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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut	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
MEGF6	1953	broad.mit.edu	37	chr1	3413612	3413612	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtcccggtggcagggtGgcaggccgggttctcaccgg	19	12	1	0			TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr1:3413612G>C	ENST00000356575.4	-	28	3779	c.3553C>G	c.(3553-3555)Cac>Gac	p.H1185D	MEGF6_ENST00000294599.4_Intron	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1185						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)		GTGGCAGGGTGGCAGGCCGGG	0.692													3	26					0	0	0.115264	0	0	C	3413612	G	C	3413612	3	2	1	1	0	0	0	0	1	0	0	0	9512	1348	47	5	1112	5	MEGF6	1	3413612	Missense_Mutation	SNP	G	TCGA-F2-7273-01A-11D-2154-08		3413612	245837009	1	1											
RBMXL1	494115	broad.mit.edu	37	chr1	89448500	89448501	+	In_Frame_Ins	INS	-	-	CAT													tctgccaaccctgtcacaacINSttgagtagagatcacttcgg							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr1:89448500_89448501insCAT	ENST00000399794.2	-	3	1724_1725	c.1009_1010insATG	c.(1009-1011)ttg>ATGttg	p.336_337insM	CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_In_Frame_Ins_p.336_337insM	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	336	Ser-rich.						nucleotide binding|RNA binding										CCTGTCACAACTTGAGTAGAGA	0.5													12	1515	---	---	---	---						CAT	89448501	-	CAT	89448500	7	5	1	1	0	1	1	0	0	0	0	0	13205	565	20	0	166	0	RBMXL1	1	89448500	In_Frame_Ins	INS	-	TCGA-F2-7273-01A-11D-2154-08	86034888	89448500	159802121	2	2											
BRDT	676	broad.mit.edu	37	chr1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-													atgtttcccgactgagtgagAgcagcagcagcagcagcagc							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr1:92447228_92447230delAGC	ENST00000370389.2	+	12	2623_2625	c.1699_1701delAGC	c.(1699-1701)del	p.S575del	BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648					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)		ACTGAGTGAGagcagcagcagca	0.419													7	523	---	---	---	---						-	92447230	AGC	-	92447228	7	5	1	1	0	1	0	1	0	0	0	0	1510	304	11	0	1960	0	BRDT	1	92447228	In_Frame_Del	DEL	AGC	TCGA-F2-7273-01A-11D-2154-08	2998728	92447228	156803393	3	3											
CLCC1	23155	broad.mit.edu	37	chr1	109477407	109477407	+	Frame_Shift_Del	DEL	T	T	-													cttcagacttgagctgggccTtttccgctgcgggtgaacct					rs150759040	by1000genomes	TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr1:109477407delT	ENST00000369971.2	-	11	1670	c.1541delA	c.(1540-1542)agfs	p.K514fs	CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369976.1_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	514						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)		GAGCTGGGCCTTTTCCGCTGC	0.597													7	788	---	---	---	---						-	109477407	T	-	109477407	7	5	1	1	0	1	0	1	0	0	0	0	3483	1609	56	0	118	0	CLCC1	1	109477407	Frame_Shift_Del	DEL	T	TCGA-F2-7273-01A-11D-2154-08	17030179	109477407	139773214	4	4											
ADAM30	11085	broad.mit.edu	37	chr1	120436591	120436591	+	Frame_Shift_Del	DEL	T	T	-													agtatggattgcccggttacTttttttgtttcttgacactc							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr1:120436591delT	ENST00000369400.1	-	1	2527	c.2369delA	c.(2368-2370)agfs	p.K790fs		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	790					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)		GCCCGGTTACTTTTTTTGTTT	0.358													9	1307	---	---	---	---						-	120436591	T	-	120436591	7	5	1	1	0	1	0	1	0	0	0	0	247	1609	56	0	7	0	ADAM30	1	120436591	Frame_Shift_Del	DEL	T	TCGA-F2-7273-01A-11D-2154-08	10959184	120436591	128814030	5	5											
SV2A	0	broad.mit.edu	37	chr1	149885223	149885225	+	In_Frame_Del	DEL	TCA	TCA	-													catcactgggagcagggaagTcatcatcatcatcctcctcc							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr1:149885223_149885225delTCA	ENST00000369146.3	-	2	658_660	c.168_170delTGA	c.(166-171)gac>ga	p.DD56del	SV2A_ENST00000369145.1_In_Frame_Del_p.DD56del	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	56	Interaction with SYT1 (By similarity).				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)	AGCAGGGAAGTCATCATCATCAT	0.542													7	624	---	---	---	---						-	149885225	TCA	-	149885223	7	5	1	1	0	1	0	1	0	0	0	0	15473	1667	58	0	2106	0	SV2A	1	149885223	In_Frame_Del	DEL	TCA	TCGA-F2-7273-01A-11D-2154-08	29448632	149885223	99365398	6	6											
INTS7	25896	broad.mit.edu	37	chr1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-													accgtgtgtaggcattgcgtTgctgctgctgctgtaatggc							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)caa>ca	p.QQ954del	INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000469606.1_5'UTR	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	954	Gln-rich.				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)		GGCATTGCGTTGCTGCTGCTGCT	0.443													8	852	---	---	---	---						-	212115193	TGC	-	212115191	7	5	1	1	0	1	0	1	0	0	0	0	7827	1812	63	0	28	0	INTS7	1	212115191	In_Frame_Del	DEL	TGC	TCGA-F2-7273-01A-11D-2154-08	62229968	212115191	37135430	7	7											
TGFB2	7042	broad.mit.edu	37	chr1	218609370	218609371	+	Frame_Shift_Ins	INS	-	-	A													aaactataaagtccactaggINSaaaaaaaacagtgggaagac							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr1:218609370_218609371insA	ENST00000366929.4	+	6	1364_1365	c.897_898insA	c.(895-900)agaaaafs	p.RK299fs	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366930.4_Frame_Shift_Ins_p.RK271fs	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	271					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)		AGTCCACTAGGAAAAAAAACAG	0.431													7	466	---	---	---	---						A	218609371	-	A	218609370	7	5	1	1	0	1	1	0	0	0	0	0	15878	1165	41	0	919	0	TGFB2	1	218609370	Frame_Shift_Ins	INS	-	TCGA-F2-7273-01A-11D-2154-08	6494179	218609370	30641251	8	8											
BCL11A	53335	broad.mit.edu	37	chr2	60689253	60689254	+	Frame_Shift_Ins	INS	-	-	G													tctcggtggtggactaaacaINSgggggggagtgggtggaaag							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr2:60689253_60689254insG	ENST00000335712.6	-	4	1020_1021	c.793_794insC	c.(793-795)gttfs	p.V265fs	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Frame_Shift_Ins_p.V265fs|BCL11A_ENST00000358510.4_Frame_Shift_Ins_p.V231fs|BCL11A_ENST00000538214.1_Frame_Shift_Ins_p.V231fs	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	265	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)			TGGACTAAACAGGGGGGGAGTG	0.584			T	IGH@	B-CLL								8	328	---	---	---	---						G	60689254	-	G	60689253	7	5	1	1	0	1	1	0	0	0	0	0	1361	188	7	0	1823	0	BCL11A	2	60689253	Frame_Shift_Ins	INS	-	TCGA-F2-7273-01A-11D-2154-08		60689253	182510120	9	9											
ERCC3	2071	broad.mit.edu	37	chr2	128046944	128046946	+	In_Frame_Del	DEL	TCT	TCT	-													caaaagacactgtctgtgtcTcttcttcttcttcttcatcc							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr2:128046944_128046946delTCT	ENST00000493187.2	-	6	1060_1062	c.597_599delAGA	c.(595-600)gag>ga	p.EE199del	ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	263					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)		TGTCTGTGTCTCTTCTTCTTCTT	0.473			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				7	304	---	---	---	---						-	128046946	TCT	-	128046944	7	5	1	1	0	1	0	1	0	0	0	0	5242	1551	54	0	1597	0	ERCC3	2	128046944	In_Frame_Del	DEL	TCT	TCGA-F2-7273-01A-11D-2154-08	67357691	128046944	115152429	10	10											
FMNL2	114793	broad.mit.edu	37	chr2	153504389	153504390	+	Frame_Shift_Del	DEL	TT	TT	-													tttgatgatcagaacttgcgTtctgttaatggtgccgaaat							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr2:153504389_153504390delTT	ENST00000288670.9	+	26	3616_3617	c.3249_3250delTT	c.(3247-3252)cgctfs	p.RS1083fs	FMNL2_ENST00000475377.2_3'UTR	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	0					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						AGAACTTGCGTTCTGTTAATGG	0.495													10	1053	---	---	---	---						-	153504390	TT	-	153504389	7	5	1	1	0	1	0	1	0	0	0	0	5985	1712	60	0	3351	0	FMNL2	2	153504389	Frame_Shift_Del	DEL	TT	TCGA-F2-7273-01A-11D-2154-08	25457445	153504389	89694984	11	11											
PPIG	9360	broad.mit.edu	37	chr2	170493804	170493804	+	Frame_Shift_Del	DEL	A	A	-													tagctcaaataacagcagggAaaaaaaggctgatagagatc							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr2:170493804delA	ENST00000260970.3	+	14	2256	c.2036delA	c.(2035-2037)gafs	p.E679fs	PPIG_ENST00000409714.3_Frame_Shift_Del_p.E664fs|PPIG_ENST00000448752.2_Frame_Shift_Del_p.E679fs	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	679					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)	AACAGCAGGGAAAAAAAGGCT	0.358													7	442	---	---	---	---						-	170493804	A	-	170493804	7	5	1	1	0	1	0	1	0	0	0	0	12373	246	9	0	2082	0	PPIG	2	170493804	Frame_Shift_Del	DEL	A	TCGA-F2-7273-01A-11D-2154-08	16989415	170493804	72705569	12	12											
RBM45	129831	broad.mit.edu	37	chr2	178977303	178977304	+	Frame_Shift_Ins	INS	-	-	G													ctggcagctctgcgagcggcINSgggggcttccgcccgggcgt					rs146365140	by1000genomes	TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr2:178977303_178977304insG	ENST00000286070.5	+	1	122_123	c.30_31insG	c.(28-33)ggggggfs	p.GG10fs		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	10					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)			CTGCGAGCGGCGGGGGCTTCCG	0.644											OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	290	---	---	---	---						G	178977304	-	G	178977303	7	5	1	1	0	1	1	0	0	0	0	0	13191	755	27	0	32	0	RBM45	2	178977303	Frame_Shift_Ins	INS	-	TCGA-F2-7273-01A-11D-2154-08	8483499	178977303	64222070	13	13											
DOCK10	55619	broad.mit.edu	37	chr2	225729790	225729790	+	Frame_Shift_Del	DEL	A	A	-													tcataaagtgccacactcacAaaaaaaggctcaatctgcat							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr2:225729790delA	ENST00000409592.3	-	12	1367	c.1254delT	c.(1252-1254)ttfs	p.F418fs	DOCK10_ENST00000258390.7_Frame_Shift_Del_p.F424fs			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	424							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)		CCACACTCACAAAAAAAGGCT	0.398													8	624	---	---	---	---						-	225729790	A	-	225729790	7	5	1	1	0	1	0	1	0	0	0	0	4712	127	5	0	5468	0	DOCK10	2	225729790	Frame_Shift_Del	DEL	A	TCGA-F2-7273-01A-11D-2154-08	46752487	225729790	17469583	14	14											
IRS1	3667	broad.mit.edu	37	chr2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-													ctctggagggtgcagcaaggGctgctgctgctgctgctgct							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr2:227660808_227660810delGCT	ENST00000305123.4	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)ccc>c	p.QP882del		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				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)		TGCAGCAAGGgctgctgctgctg	0.626													8	418	---	---	---	---						-	227660810	GCT	-	227660808	7	5	1	1	0	1	0	1	0	0	0	0	7884	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-F2-7273-01A-11D-2154-08	1931018	227660808	15538565	15	15											
COL4A4	1286	broad.mit.edu	37	chr2	227896886	227896886	+	Frame_Shift_Del	DEL	C	C	-													gggggtcctgggggacctttCtttccacgaggacctggagg					rs2229812	by1000genomes	TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr2:227896886delC	ENST00000396625.3	-	39	3891	c.3684delG	c.(3682-3684)aafs	p.K1229fs	COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K1229fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1229	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)		GGGGACCTTTCTTTCCACGAG	0.522													7	587	---	---	---	---						-	227896886	C	-	227896886	7	5	1	1	0	1	0	1	0	0	0	0	3716	912	32	0	1428	0	COL4A4	2	227896886	Frame_Shift_Del	DEL	C	TCGA-F2-7273-01A-11D-2154-08	236078	227896886	15302487	16	16											
MAML3	55534	broad.mit.edu	37	chr4	140810639	140810641	+	In_Frame_Del	DEL	GCT	GCT	-													ctggagctgtggaggtggcgGctgctgctgctgctgctgct							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr4:140810639_140810641delGCT	ENST00000509479.2	-	2	2805_2807	c.1949_1951delAGC	c.(1948-1953)ccg>c	p.QP650del	MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del|MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	646	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)					GGAGGTGGCGgctgctgctgctg	0.586													9	342	---	---	---	---						-	140810641	GCT	-	140810639	7	5	1	1	0	1	0	1	0	0	0	0	9257	1203	42	0	1481	0	MAML3	4	140810639	In_Frame_Del	DEL	GCT	TCGA-F2-7273-01A-11D-2154-08		140810639	50343637	17	17											
PCDHB14	0	broad.mit.edu	37	chr5	140605423	140605423	+	Frame_Shift_Del	DEL	T	T	-													gttcatgacactggtaggaaTatgggggaaatcgagaactt							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr5:140605423delT	ENST00000239449.4	+	1	2346	c.2346delT	c.(2344-2346)aafs	p.N782fs	PCDHB14_ENST00000515856.2_Frame_Shift_Del_p.N629fs	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		782					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)			CTGGTAGGAATATGGGGGAAA	0.368													9	554	---	---	---	---						-	140605423	T	-	140605423	7	5	1	1	0	1	0	1	0	0	0	0	11586	1403	49	0	2348	0	PCDHB14	5	140605423	Frame_Shift_Del	DEL	T	TCGA-F2-7273-01A-11D-2154-08		140605423	40309837	18	18											
TNXB	7148	broad.mit.edu	37	chr6	32013122	32013122	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcgtgggagaagcccaGgggagaatctgagtgagggg	21	6	1	4			TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr6:32013122G>T	ENST00000451343.1	-	0	783				TNXB_ENST00000375244.3_Intron|TNXB_ENST00000375247.2_Intron	NM_032470.3	NP_115859.2	P22105	TENX_HUMAN	tenascin XB						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						GAGAAGCCCAGGGGAGAATCT	0.617													6	22					2.17888e-05	2.25533e-05	0.335167	1	0	T	32013122	G	T	32013122	1	4	1	1	0	0	0	0	0	0	0	0	16406	1015	35	2		2	TNXB	6	32013122	Translation_Start_Site	SNP	G	TCGA-F2-7273-01A-11D-2154-08		32013122	139101945	19	19											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-													atggcccaccttcctcccatCaccaccaccaccaccatcac							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)del	p.H966del	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					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						TTCCTCccatcaccaccaccacc	0.645													8	904	---	---	---	---						-	33411203	CAC	-	33411201	7	5	1	1	0	1	0	1	0	0	0	0	15504	826	29	0	2930	0	SYNGAP1	6	33411201	In_Frame_Del	DEL	CAC	TCGA-F2-7273-01A-11D-2154-08	1398079	33411201	137703866	20	20											
HSP90AB1	3326	broad.mit.edu	37	chr6	44221052	44221052	+	Frame_Shift_Del	DEL	T	T	-													ccgccctgctatcttctggcTtttcccttgaggatccccag							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr6:44221052delT	ENST00000371554.1	+	11	2216	c.2002delT	c.(2002-2004)ttfs	p.F668fs	HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F668fs|HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F668fs			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	668					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)			ATCTTCTGGCTTTTCCCTTGA	0.527													8	2344	---	---	---	---						-	44221052	T	-	44221052	7	5	1	1	0	1	0	1	0	0	0	0	7445	1609	56	0	2040	0	HSP90AB1	6	44221052	Frame_Shift_Del	DEL	T	TCGA-F2-7273-01A-11D-2154-08	10809851	44221052	126894015	21	21											
ARHGAP18	93663	broad.mit.edu	37	chr6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T													caggaatctggtactgtttgINSttttttttcctcaaggtctg							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aaafs	p.K163fs		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	163					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)		GGTACTGTTTGTTTTTTTTCCT	0.421													9	1169	---	---	---	---						T	129959603	-	T	129959602	7	5	1	1	0	1	1	0	0	0	0	0	865	1368	48	0	1554	0	ARHGAP18	6	129959602	Frame_Shift_Ins	INS	-	TCGA-F2-7273-01A-11D-2154-08	85738550	129959602	41155465	22	22											
MED23	9439	broad.mit.edu	37	chr6	131919846	131919846	+	Frame_Shift_Del	DEL	T	T	-													tcctatactcctcctccacaTtttttttcagattaaaacgg							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr6:131919846delT	ENST00000403834.3	-	19	2467	c.2294delA	c.(2293-2295)atfs	p.N765fs	MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000368068.3_Frame_Shift_Del_p.N759fs			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	759					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.N759fs*7(1)|p.N765fs*7(1)		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)		CTCCTCCACATTTTTTTTCAG	0.378													9	513	---	---	---	---						-	131919846	T	-	131919846	7	5	1	1	0	1	0	1	0	0	0	0	9491	1493	52	0	1881	0	MED23	6	131919846	Frame_Shift_Del	DEL	T	TCGA-F2-7273-01A-11D-2154-08	1960244	131919846	39195221	23	23											
FOXP2	93986	broad.mit.edu	37	chr7	114269971	114269973	+	In_Frame_Del	DEL	CAA	CAA	-													agcagcaacaacagcagcagCaacaacaacaacaacagcag					rs149757187		TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr7:114269971_114269973delCAA	ENST00000393500.3	+	11	1103_1105	c.283_285delCAA	c.(283-285)del	p.Q116del	FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del			O15409	FOXP2_HUMAN	forkhead box P2	191	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	p.Q195Q(1)		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						acagcagcagcaacaacaacaac	0.502													12	253	---	---	---	---						-	114269973	CAA	-	114269971	7	5	1	1	0	1	0	1	0	0	0	0	6061	711	25	0	656	0	FOXP2	7	114269971	In_Frame_Del	DEL	CAA	TCGA-F2-7273-01A-11D-2154-08		114269971	44868692	24	24											
RGS22	26166	broad.mit.edu	37	chr8	100990177	100990178	+	Frame_Shift_Ins	INS	-	-	T													tcgtcttctaggactgccaaINStttttttttctgcttattat					rs7841915	by1000genomes	TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr8:100990177_100990178insT	ENST00000360863.6	-	23	3680_3681	c.3486_3487insA	c.(3484-3489)aatggcfs	p.NG1162fs	RGS22_ENST00000523437.1_Frame_Shift_Ins_p.NG1150fs|RGS22_ENST00000523287.1_Frame_Shift_Ins_p.NG981fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1162					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)			AGGACTGCCAATTTTTTTTTCT	0.312													8	344	---	---	---	---						T	100990178	-	T	100990177	7	5	1	1	0	1	1	0	0	0	0	0	13355	98	4	0	327	0	RGS22	8	100990177	Frame_Shift_Ins	INS	-	TCGA-F2-7273-01A-11D-2154-08		100990177	45373845	25	25											
COL22A1	169044	broad.mit.edu	37	chr8	139809072	139809072	+	Frame_Shift_Del	DEL	T	T	-													agatgcttaccttttcacccTtttccccttggccaaaaggt							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr8:139809072delT	ENST00000303045.6	-	12	2032	c.1586delA	c.(1585-1587)agfs	p.K529fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	529	Collagen-like 2.|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)			CTTTTCACCCTTTTCCCCTTG	0.463										HNSCC(7;0.00092)			8	1643	---	---	---	---						-	139809072	T	-	139809072	7	5	1	1	0	1	0	1	0	0	0	0	3704	1609	56	0	3510	0	COL22A1	8	139809072	Frame_Shift_Del	DEL	T	TCGA-F2-7273-01A-11D-2154-08	38818895	139809072	6554950	26	26											
SYT15	83849	broad.mit.edu	37	chr10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-													cagcagcttgccccgatcaaCagcagcagcagcagcccccc							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr10:46969401_46969403delCAG	ENST00000374325.3	-	2	210_212	c.58_60delCTG	c.(58-60)del	p.L21del	SYT15_ENST00000374323.3_Intron|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631													7	315	---	---	---	---						-	46969403	CAG	-	46969401	7	5	1	1	0	1	0	1	0	0	0	0	15528	465	17	0	1287	0	SYT15	10	46969401	In_Frame_Del	DEL	CAG	TCGA-F2-7273-01A-11D-2154-08		46969401	88565346	27	27											
FRMPD2	143162	broad.mit.edu	37	chr10	49409420	49409420	+	Frame_Shift_Del	DEL	T	T	-													cactgcttgtgatggtgaacTttttttgctgaaggaagcaa							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr10:49409420delT	ENST00000374201.3	-	15	2107	c.1805delA	c.(1804-1806)agfs	p.K602fs	FRMPD2_ENST00000407470.4_Frame_Shift_Del_p.K570fs|FRMPD2_ENST00000305531.3_Frame_Shift_Del_p.K577fs	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	602	FERM.				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)		GATGGTGAACTTTTTTTGCTG	0.463													7	860	---	---	---	---						-	49409420	T	-	49409420	7	5	1	1	0	1	0	1	0	0	0	0	6093	1609	56	0	2184	0	FRMPD2	10	49409420	Frame_Shift_Del	DEL	T	TCGA-F2-7273-01A-11D-2154-08	2440019	49409420	86125327	28	28											
PLAU	5328	broad.mit.edu	37	chr10	75673298	75673298	+	Splice_Site	DEL	A	A	-													ccctctgtttgtcctccaggAaaaaagccctcctctcctcc							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr10:75673298delA	ENST00000446342.1	+	6	893	c.409_splice	c.e6-1	p.G137_splice	PLAU_ENST00000372762.4_Splice_Site_p.G118_splice|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372764.3_Splice_Site_p.G154_splice|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	154	Kringle.				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)	GTCCTCCAGGAAAAAAGCCCT	0.517													7	2045	---	---	---	---						-	75673298	A	-	75673298	8	5	1	1	0	1	0	1	0	0	1	0	12070	260	9	0	522	0	PLAU	10	75673298	Splice_Site	DEL	A	TCGA-F2-7273-01A-11D-2154-08	26263878	75673298	59861449	29	29											
CCDC88B	283234	broad.mit.edu	37	chr11	64124622	64124622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggcactggagtgtcagcGgaggccccaggcagcccaag	15	14	1	0	rs61886888	by1000genomes	TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr11:64124622G>A	ENST00000359902.2	+	14	1951	c.1801G>A	c.(1801-1803)Gga>Aga	p.G601R	CCDC88B_ENST00000301897.4_3'UTR|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000356786.5_3'UTR			A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1424					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						GAGTGTCAGCGGAGGCCCCAG	0.667													11	207					0	0	0.069234	0	0	A	64124622	G	A	64124622	3	1	1	1	0	0	0	0	1	0	0	0	2884	1131	39	1		1	CCDC88B	11	64124622	Missense_Mutation	SNP	G	TCGA-F2-7273-01A-11D-2154-08		64124622	70881894	30	30											
FBXO21	23014	broad.mit.edu	37	chr12	117624320	117624320	+	Frame_Shift_Del	DEL	A	A	-													atacacaccagttcatcctcAaaaaaaatctctggtccttc							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr12:117624320delA	ENST00000427718.2	-	3	506	c.432delT	c.(430-432)ttfs	p.F144fs	FBXO21_ENST00000330622.5_Frame_Shift_Del_p.F144fs|FBXO21_ENST00000549689.1_5'UTR	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	144					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.F144fs*9(1)		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)		GTTCATCCTCAAAAAAAATCT	0.373													8	484	---	---	---	---						-	117624320	A	-	117624320	7	5	1	1	0	1	0	1	0	0	0	0	5766	127	5	0	1494	0	FBXO21	12	117624320	Frame_Shift_Del	DEL	A	TCGA-F2-7273-01A-11D-2154-08		117624320	16227575	31	31											
FBXO33	254170	broad.mit.edu	37	chr14	39871612	39871612	+	Frame_Shift_Del	DEL	T	T	-													ccatataacttactgtttaaTttttttgccatcagggtcca							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr14:39871612delT	ENST00000298097.7	-	2	1040	c.703delA	c.(703-705)ttfs	p.I235fs	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	235										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)		TACTGTTTAATTTTTTTGCCA	0.323													7	272	---	---	---	---						-	39871612	T	-	39871612	7	5	1	1	0	1	0	1	0	0	0	0	5776	1493	52	0	976	0	FBXO33	14	39871612	Frame_Shift_Del	DEL	T	TCGA-F2-7273-01A-11D-2154-08		39871612	67477928	32	32											
HERC2	8924	broad.mit.edu	37	chr15	28515875	28515876	+	Frame_Shift_Ins	INS	-	-	TC													agagctacacagcggaggcaINStacagggcgtagccagacgg							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr15:28515875_28515876insTC	ENST00000261609.7	-	10	1330_1331	c.1222_1223insGA	c.(1222-1224)gccfs	p.A408fs		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	408					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)		CAGCGGAGGCATACAGGGCGTA	0.515													9	385	---	---	---	---						TC	28515876	-	TC	28515875	7	5	1	1	0	1	1	0	0	0	0	0	7099	217	8	0	13617	0	HERC2	15	28515875	Frame_Shift_Ins	INS	-	TCGA-F2-7273-01A-11D-2154-08		28515875	74015517	33	33											
C15orf40	123207	broad.mit.edu	37	chr15	83674354	83674354	+	Frame_Shift_Del	DEL	T	T	-													cctcatttcttgcttttatgTttttttggcttcctttttta							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr15:83674354delT	ENST00000304177.5	-	4	490	c.376delA	c.(376-378)cafs	p.T126fs	C15orf40_ENST00000538348.2_Intron|RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000565712.1_Frame_Shift_Del_p.T68fs|C15orf40_ENST00000451195.3_Intron|C15orf40_ENST00000513601.2_Frame_Shift_Del_p.T153fs	NM_001160114.1|NM_144597.2	NP_001153586.1|NP_653198.2	Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	126										large_intestine(3)|lung(2)|skin(1)	6						TGCTTTTATGTTTTTTTGGCT	0.488													7	855	---	---	---	---						-	83674354	T	-	83674354	7	5	1	1	0	1	0	1	0	0	0	0	1800	1725	60	0	342	0	C15orf40	15	83674354	Frame_Shift_Del	DEL	T	TCGA-F2-7273-01A-11D-2154-08	55158479	83674354	18857038	34	34											
SLC7A6	9057	broad.mit.edu	37	chr16	68330539	68330539	+	Frame_Shift_Del	DEL	T	T	-													ctctatttcagctgagcgtgTttttccccatcgtgttctgc							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr16:68330539delT	ENST00000566454.1	+	11	1548	c.1279delT	c.(1279-1281)ttfs	p.F428fs	SLC7A6_ENST00000219343.6_Frame_Shift_Del_p.F428fs	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	428					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|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		GCTGAGCGTGTTTTTCCCCAT	0.522													7	1203	---	---	---	---						-	68330539	T	-	68330539	7	5	1	1	0	1	0	1	0	0	0	0	14756	1725	60	0	1309	0	SLC7A6	16	68330539	Frame_Shift_Del	DEL	T	TCGA-F2-7273-01A-11D-2154-08		68330539	22024214	35	35											
KDM6B	23135	broad.mit.edu	37	chr17	7750177	7750178	+	In_Frame_Ins	INS	-	-	ACCACC													ccactgcctccaccaccattINSaccaccaccaccaccaccac					rs61462443		TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr17:7750177_7750178insACCACC	ENST00000254846.5	+	9	1141_1142	c.752_753insACCACC	c.(751-753)tcc>tACCACCcc	p.251_251S>YHP	KDM6B_ENST00000448097.2_In_Frame_Ins_p.251_251S>YHP	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	251	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						ccaccaccattaccaccaccac	0.614													10	115	---	---	---	---						ACCACC	7750178	-	ACCACC	7750177	7	5	1	1	0	1	1	0	0	0	0	0	8181	1764	61	0	774	0	KDM6B	17	7750177	In_Frame_Ins	INS	-	TCGA-F2-7273-01A-11D-2154-08		7750177	73445033	36	36											
MYH10	4628	broad.mit.edu	37	chr17	8397095	8397097	+	In_Frame_Del	DEL	CCT	CCT	-													cttctccaggttcttcctggCctcctcctcctcctcctgct							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr17:8397095_8397097delCCT	ENST00000360416.3	-	32	4301_4303	c.4163_4165delAGG	c.(4162-4167)gcc>g	p.EA1388del	MYH10_ENST00000269243.4_In_Frame_Del_p.EA1357del|MYH10_ENST00000396239.1_In_Frame_Del_p.EA1378del|MYH10_ENST00000379980.4_In_Frame_Del_p.EA1373del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1357					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						TTCTTCCTGGCCTCCTCCTCCTC	0.596													7	310	---	---	---	---						-	8397097	CCT	-	8397095	7	5	1	1	0	1	0	1	0	0	0	0	10078	739	26	0	1906	0	MYH10	17	8397095	In_Frame_Del	DEL	CCT	TCGA-F2-7273-01A-11D-2154-08	646918	8397095	72798115	37	37											
MBD3	53615	broad.mit.edu	37	chr19	1578372	1578374	+	In_Frame_Del	DEL	CTC	CTC	-													atctccgggtccgggtcgggCtcctcctcctcctcctcctc							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr19:1578372_1578374delCTC	ENST00000590550.2	-	5	1046_1048	c.673_675delGAG	c.(673-675)del	p.E225del	MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	281					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)		CCGGGTCGGGctcctcctcctcc	0.714													8	193	---	---	---	---						-	1578374	CTC	-	1578372	7	5	1	1	0	1	0	1	0	0	0	0	9394	796	28	0	36	0	MBD3	19	1578372	In_Frame_Del	DEL	CTC	TCGA-F2-7273-01A-11D-2154-08		1578372	57550611	38	38											
TNFSF9	8744	broad.mit.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-													ccttgggccctggtcgcgggGctgctgctgctgctgctgct							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)ggg>gg	p.GL34del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	34					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						TGGTCGCGGGgctgctgctgctg	0.768													9	289	---	---	---	---						-	6531151	GCT	-	6531149	7	5	1	1	0	1	0	1	0	0	0	0	16372	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-F2-7273-01A-11D-2154-08	4952777	6531149	52597834	39	39											
ERF	2077	broad.mit.edu	37	chr19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-													gcttaaacttgaatggggagGaagaagaagaagaggatgac							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcc>tc	p.SS371del	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				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)				GAATGGGGAGGAAGAAGAAGAAG	0.68													7	600	---	---	---	---						-	42753151	GAA	-	42753149	7	5	1	1	0	1	0	1	0	0	0	0	5249	1174	41	0	535	0	ERF	19	42753149	In_Frame_Del	DEL	GAA	TCGA-F2-7273-01A-11D-2154-08	36222000	42753149	16375834	40	40											
PLA2G3	50487	broad.mit.edu	37	chr22	31536134	31536135	+	Frame_Shift_Ins	INS	-	-	T													catcctcccagctacatgacINStgcagcctcctatgcgcatc							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr22:31536134_31536135insT	ENST00000215885.3	-	1	458_459	c.206_207insA	c.(205-207)ctcfs	p.L69fs		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	69					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						AGCTACATGACTGCAGCCTCCT	0.649													7	565	---	---	---	---						T	31536135	-	T	31536134	7	5	1	1	0	1	1	0	0	0	0	0	12048	564	20	0	1350	0	PLA2G3	22	31536134	Frame_Shift_Ins	INS	-	TCGA-F2-7273-01A-11D-2154-08		31536134	19768432	41	41											
ARFGAP3	26286	broad.mit.edu	37	chr22	43218401	43218401	+	Frame_Shift_Del	DEL	T	T	-													ttctgagctcccaaacttccTtttttggccccaagctagaa							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chr22:43218401delT	ENST00000263245.5	-	9	906	c.687delA	c.(685-687)aafs	p.K229fs	ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.K157fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.K185fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	229					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CCAAACTTCCTTTTTTGGCCC	0.423													7	794	---	---	---	---						-	43218401	T	-	43218401	7	5	1	1	0	1	0	1	0	0	0	0	848	1606	56	0	895	0	ARFGAP3	22	43218401	Frame_Shift_Del	DEL	T	TCGA-F2-7273-01A-11D-2154-08	11682267	43218401	8086165	42	42											
ATRX	546	broad.mit.edu	37	chrX	76907782	76907784	+	In_Frame_Del	DEL	TCC	TCC	-													tttcatcttcctcctcctctTcctcctcctcctcctcttcc							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chrX:76907782_76907784delTCC	ENST00000373344.5	-	15	4591_4593	c.4377_4379delGGA	c.(4375-4380)gaa>ga	p.EE1463del	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1463	Poly-Glu.				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)	ctcctcctcttcctcctcctcct	0.389			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						7	351	---	---	---	---						-	76907784	TCC	-	76907782	7	5	1	1	0	1	0	1	0	0	0	0	1206	1783	62	0	3183	0	ATRX	23	76907782	In_Frame_Del	DEL	TCC	TCGA-F2-7273-01A-11D-2154-08		76907782	78362778	43	43											
MAMLD1	10046	broad.mit.edu	37	chrX	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-													gtaatcttctaagccagcaaCagcagcagcagcagcagcag							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)del	p.Q502del	MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000455522.2_5'UTR			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532													9	231	---	---	---	---						-	149639327	CAG	-	149639325	7	5	1	1	0	1	0	1	0	0	0	0	9258	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Del	DEL	CAG	TCGA-F2-7273-01A-11D-2154-08	72731543	149639325	5631235	44	44											
PASD1	139135	broad.mit.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-													aagccgtgtacgttgaacccGctgctgctgctgctgctgct							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)del	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)		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)					CGTTGAACCCgctgctgctgctg	0.433													13	446	---	---	---	---						-	150817144	GCT	-	150817142	7	5	1	1	0	1	0	1	0	0	0	0	11518	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-F2-7273-01A-11D-2154-08	1177817	150817142	4453418	45	45											
RPL10	6134	broad.mit.edu	37	chrX	153627860	153627860	+	Frame_Shift_Del	DEL	A	A	-													gcatttttgacctggggcggAaaaaggcaaaagtggatgag							TCGA-F2-7273-01A-11D-2154-08	TCGA-F2-7273-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3063058-e144-41a9-86f7-6e7a637bb797	fcff255b-3e83-4128-884c-2ec890589827	g.chrX:153627860delA	ENST00000424325.2	+	4	303	c.115delA	c.(115-117)aafs	p.K40fs	RPL10_ENST00000369817.2_Frame_Shift_Del_p.K40fs|RPL10_ENST00000406022.2_5'UTR	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	40					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)					CCTGGGGCGGAAAAAGGCAAA	0.512											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	644	---	---	---	---						-	153627860	A	-	153627860	7	5	1	1	0	1	0	1	0	0	0	0	13606	247	9	0	125	0	RPL10	23	153627860	Frame_Shift_Del	DEL	A	TCGA-F2-7273-01A-11D-2154-08	2810718	153627860	1642700	46	46											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_052896.3	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													142	778					0	0	1	0	0	T	34158555	C	T	34158555	3	4	2	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	47											
B4GALT2	8704	broad.mit.edu	37	chr1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-													atgccctccacccagctgctAgcagcagcagcagcagcagc					rs72406230		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)del	p.S65del	B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					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)	CCCAGCTGCTagcagcagcagca	0.685													7	426	---	---	---	---						-	44447009	AGC	-	44447007	7	5	2	1	0	1	0	1	0	0	0	0	1269	420	15	0	177	0	B4GALT2	1	44447007	In_Frame_Del	DEL	AGC	TCGA-F2-A44G-01A-11D-A26I-08	10288452	44447007	204803614	2	48											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101.2	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													62	281					0	0	1	0	0	A	98157326	G	A	98157326	3	1	2	1	0	0	0	0	1	0	0	0	4771	1203	42	2	2436	2	DPYD	1	98157326	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	53710319	98157326	151093295	3	49											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	475					0	0	1	0	0	G	150921869	C	G	150921869	4	3	2	1	0	0	0	0	0	1	0	0	14192	838	29	5	1490	5	SETDB1	1	150921869	Nonsense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	52764543	150921869	98328752	4	50											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000294816.2_Silent_p.Q265Q|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_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													27	168					0	0	1	0	0	T	165177322	C	T	165177322	2	4	2	1	0	0	0	0	0	0	0	1	8902	912	32	2		2	LMX1A	1	165177322	Silent	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	14255453	165177322	84073299	5	51											
APOBEC4	403314	broad.mit.edu	37	chr1	183616826	183616828	+	In_Frame_Del	DEL	TTC	TTC	-													gtagattttatttcttccctTtcttcttcttcttttcatct					rs141411396		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:183616826_183616828delTTC	ENST00000308641.4	-	2	1360_1362	c.1089_1091delGAA	c.(1087-1092)aaa>aa	p.KK363del	APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.3_Intron|RGL1_ENST00000367531.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	363					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTCTTCCCTTTCTTCTTCTTCT	0.419													8	1168	---	---	---	---						-	183616828	TTC	-	183616826	7	5	2	1	0	1	0	1	0	0	0	0	793	1841	64	0	16	0	APOBEC4	1	183616826	In_Frame_Del	DEL	TTC	TCGA-F2-A44G-01A-11D-A26I-08	18439504	183616826	65633795	6	52											
CR2	1380	broad.mit.edu	37	chr1	207642044	207642044	+	Frame_Shift_Del	DEL	C	C	-													tcgggaaaatggagtgctgtCccccccacatgtgaaggtac							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:207642044delC	ENST00000367057.3	+	3	807	c.618delC	c.(616-618)gtfs	p.V206fs	CR2_ENST00000458541.2_Frame_Shift_Del_p.V206fs|CR2_ENST00000367059.3_Frame_Shift_Del_p.V206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Frame_Shift_Del_p.V206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(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						GGAGTGCTGTCCCCCCCACAT	0.398													7	1075	---	---	---	---						-	207642044	C	-	207642044	7	5	2	1	0	1	0	1	0	0	0	0	3865	842	30	0	628	0	CR2	1	207642044	Frame_Shift_Del	DEL	C	TCGA-F2-A44G-01A-11D-A26I-08	24025218	207642044	41608577	7	53											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	468					0	0	1	0	0	A	110849265	G	A	110849265	3	1	2	1	0	0	0	0	1	0	0	0	9251	1059	37	1	285	1	MALL	2	110849265	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08		110849265	132350108	8	54											
MARCH7	64844	broad.mit.edu	37	chr2	160604680	160604680	+	Frame_Shift_Del	DEL	T	T	-													gcttctagcatgtcatctacTtttttttcacgaagatctag							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr2:160604680delT	ENST00000259050.3	+	5	1001	c.879delT	c.(877-879)acfs	p.T293fs	MARCH7_ENST00000409591.1_Frame_Shift_Del_p.T255fs|MARCH7_ENST00000409175.1_Frame_Shift_Del_p.T293fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.T237fs	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	293	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGTCATCTACTTTTTTTTCAC	0.393													10	362	---	---	---	---						-	160604680	T	-	160604680	7	5	2	1	0	1	0	1	0	0	0	0	9356	1596	56	0	893	0	MARCH7	2	160604680	Frame_Shift_Del	DEL	T	TCGA-F2-A44G-01A-11D-A26I-08	49755415	160604680	82594693	9	55											
ANKRD44	91526	broad.mit.edu	37	chr2	197943383	197943384	+	Frame_Shift_Del	DEL	TG	TG	-													tgcctctgtgatttggggtaTgtgtgtgtgtgtgtgttaga							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr2:197943383_197943384delTG	ENST00000409153.1	-	16	1875_1876	c.1693_1694delCA	c.(1693-1695)tfs	p.H565fs	ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000328737.2_Intron			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	811							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)			ATTTGGGGTATGTGTGTGTGTG	0.411													10	101	---	---	---	---						-	197943384	TG	-	197943383	7	5	2	1	0	1	0	1	0	0	0	0	666	1479	51	0		0	ANKRD44	2	197943383	Frame_Shift_Del	DEL	TG	TCGA-F2-A44G-01A-11D-A26I-08	37338703	197943383	45255990	10	56											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	308					0	0	1	0	0	C	219678840	G	C	219678840	3	2	2	1	0	0	0	0	1	0	0	0	4181	1116	39	5	1136	5	CYP27A1	2	219678840	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	21735457	219678840	23520533	11	57											
NGEF	25791	broad.mit.edu	37	chr2	233785144	233785146	+	In_Frame_Del	DEL	CTC	CTC	-													ctctctggtgggctggccggCtcctcctcctcctcctcttc							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr2:233785144_233785146delCTC	ENST00000264051.3	-	5	954_956	c.676_678delGAG	c.(676-678)del	p.E226del	NGEF_ENST00000409079.1_In_Frame_Del_p.E134del|NGEF_ENST00000373552.4_In_Frame_Del_p.E134del	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	226	Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|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	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GGCTGGCCGGctcctcctcctcc	0.586													7	468	---	---	---	---						-	233785146	CTC	-	233785144	7	5	2	1	0	1	0	1	0	0	0	0	10441	796	28	0	1498	0	NGEF	2	233785144	In_Frame_Del	DEL	CTC	TCGA-F2-A44G-01A-11D-A26I-08	14106304	233785144	9414229	12	58											
MST1	4485	broad.mit.edu	37	chr3	49723596	49723596	+	Missense_Mutation	SNP	G	G	A													agggcgcctctgagccgtcgGggttccggcagaagttctcc							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr3:49723596G>A	ENST00000449682.2	-	9	1407	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	335	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P335L(5)		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)		TGAGCCGTCGGGGTTCCGGCA	0.667													6	153					0	0	1	0	0	A	49723596	G	A	49723596	3	1	2	1	0	0	0	0	1	0	0	0	9938	1232	43	2	1171	2	MST1	3	49723596	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08		49723596	148298834	13	59	1	2									
MST1	4485	broad.mit.edu	37	chr3	49723603	49723603	+	Missense_Mutation	SNP	G	G	A													ctctgagccgtcggggttccGgcagaagttctcccgaaggt							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr3:49723603G>A	ENST00000449682.2	-	9	1400	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	333	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R333W(5)		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)		TCGGGGTTCCGGCAGAAGTTC	0.662													6	153					0	0	1	0	0	A	49723603	G	A	49723603	3	1	2	1	0	0	0	0	1	0	0	0	9938	1115	39	1	1178	1	MST1	3	49723603	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	7	49723603	148298827	14	60	1	2									
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000510775.1_5'UTR|MYLK_ENST00000360304.3_Silent_p.E1163E|MYLK_ENST00000359169.1_Silent_p.E1163E|MYLK_ENST00000346322.5_Silent_p.E1094E|MYLK_ENST00000475616.1_Silent_p.E1163E			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													13	333					0	0	1	0	0	T	123411658	C	T	123411658	2	4	2	1	0	0	0	0	0	0	0	1	10104	680	24	2		2	MYLK	3	123411658	Silent	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	73688055	123411658	74610772	15	61											
NEK11	79858	broad.mit.edu	37	chr3	130881254	130881254	+	Frame_Shift_Del	DEL	A	A	-													aatctttgttatttataggcAaaaaaggatccacctgcaga							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr3:130881254delA	ENST00000383366.4	+	11	1258	c.965delA	c.(964-966)cafs	p.Q322fs	NEK11_ENST00000511262.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000510769.1_Frame_Shift_Del_p.Q217fs|NEK11_ENST00000508196.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000507910.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000429253.2_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000510688.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000412440.2_Frame_Shift_Del_p.Q174fs|NEK11_ENST00000356918.4_Frame_Shift_Del_p.Q322fs	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	322					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						ATTTATAGGCAAAAAAGGATC	0.423													8	1820	---	---	---	---						-	130881254	A	-	130881254	7	5	2	1	0	1	0	1	0	0	0	0	10370	130	5	0	999	0	NEK11	3	130881254	Frame_Shift_Del	DEL	A	TCGA-F2-A44G-01A-11D-A26I-08	7469596	130881254	67141176	16	62											
EVC	2121	broad.mit.edu	37	chr4	5809995	5809997	+	In_Frame_Del	DEL	CAG	CAG	-													agcagatgcgtctgcacgccCagcagcagcaggcaggagtc							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:5809995_5809997delCAG	ENST00000382674.2	+	18	2813_2815	c.2629_2631delCAG	c.(2629-2631)del	p.Q880del	EVC_ENST00000264956.6_In_Frame_Del_p.Q880del			P57679	EVC_HUMAN	Ellis van Creveld syndrome	880					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)				TCTGCACGCCCAGCAGCAGCAGG	0.591													7	320	---	---	---	---						-	5809997	CAG	-	5809995	7	5	2	1	0	1	0	1	0	0	0	0	5313	595	21	0	2699	0	EVC	4	5809995	In_Frame_Del	DEL	CAG	TCGA-F2-A44G-01A-11D-A26I-08		5809995	185344281	17	63											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000432638.2_Silent_p.G17G|EPHA5_ENST00000511294.1_Silent_p.G17G|EPHA5_ENST00000354839.4_Silent_p.G17G	NM_004439.5	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)			4	46					0	0	1	0	0	A	66535410	G	A	66535410	2	1	2	1	0	0	0	0	0	0	0	1	5198	1074	38	1		1	EPHA5	4	66535410	Silent	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	60725415	66535410	124618866	18	64											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_598375.2	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					36	220					0	0	1	0	0	T	84342813	C	T	84342813	4	4	2	1	0	0	0	0	0	1	0	0	7088	595	21	2	469	2	HELQ	4	84342813	Nonsense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	17807403	84342813	106811463	19	65											
NPNT	255743	broad.mit.edu	37	chr4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-													agccaacaccaattcctactCcaccaccaccaccacccctg							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)del	p.P333del	NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				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)		AATTCCTACTCCACCACCACCAC	0.522													7	575	---	---	---	---						-	106863684	CCA	-	106863682	7	5	2	1	0	1	0	1	0	0	0	0	10638	855	30	0	1161	0	NPNT	4	106863682	In_Frame_Del	DEL	CCA	TCGA-F2-A44G-01A-11D-A26I-08	22520869	106863682	84290594	20	66											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:119609076A>G	ENST00000388822.4	+	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													48	220					0	0	1	0	0	G	119609076	A	G	119609076	5	3	2	1	0	0	0	0	0	0	1	0	9548	202	7	3	71	3	METTL14	4	119609076	Splice_Site	SNP	A	TCGA-F2-A44G-01A-11D-A26I-08	12745394	119609076	71545200	21	67											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:119626803G>A	ENST00000388822.4	+	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	298						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													82	596					0	0	1	0	0	A	119626803	G	A	119626803	3	1	2	1	0	0	0	0	1	0	0	0	9548	1145	40	1	931	1	METTL14	4	119626803	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	17727	119626803	71527473	22	68											
DDX60	55601	broad.mit.edu	37	chr4	169229302	169229302	+	Frame_Shift_Del	DEL	A	A	-													gtaatgaatccccatcaatcAaaaaaaattcagattcaaca							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:169229302delA	ENST00000393743.3	-	4	410	c.119delT	c.(118-120)tgfs	p.L40fs		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	40							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)		CCCATCAATCAAAAAAAATTC	0.308													7	207	---	---	---	---						-	169229302	A	-	169229302	7	5	2	1	0	1	0	1	0	0	0	0	4401	131	5	0	5159	0	DDX60	4	169229302	Frame_Shift_Del	DEL	A	TCGA-F2-A44G-01A-11D-A26I-08	49602499	169229302	21924974	23	69											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000505890.1_Missense_Mutation_p.R297H|DDX60L_ENST00000260184.7_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													33	248					0	0	1	0	0	T	169374381	C	T	169374381	3	4	2	1	0	0	0	0	1	0	0	0	4402	536	19	1	4354	1	DDX60L	4	169374381	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	145079	169374381	21779895	24	70											
BRD9	65980	broad.mit.edu	37	chr5	889776	889777	+	Frame_Shift_Ins	INS	-	-	A													tttcggctgacaatttaaggINSaaaaaaaaattgaatacaag							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:889776_889777insA	ENST00000323510.4	-	1	37_38	c.38_39insT	c.(37-39)tctfs	p.S13fs	BRD9_ENST00000388890.4_Frame_Shift_Ins_p.S13fs|BRD9_ENST00000435709.2_Frame_Shift_Ins_p.S13fs|BRD9_ENST00000467963.1_Intron|BRD9_ENST00000483173.1_Intron			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)			ACAATTTAAGGAAAAAAAAATT	0.446													8	480	---	---	---	---						A	889777	-	A	889776	7	5	2	1	0	1	1	0	0	0	0	0	1509	1189	41	0		0	BRD9	5	889776	Frame_Shift_Ins	INS	-	TCGA-F2-A44G-01A-11D-A26I-08		889776	180025484	25	71											
IRX4	50805	broad.mit.edu	37	chr5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-													ccgcgcctcctcctcgccccCctcctcctcctcgccctccg							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)ggg>g	p.EG228del	IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				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)		tcctcgcccccctcctcctcctc	0.685													7	278	---	---	---	---						-	1879671	CCT	-	1879669	7	5	2	1	0	1	0	1	0	0	0	0	7890	623	22	0	882	0	IRX4	5	1879669	In_Frame_Del	DEL	CCT	TCGA-F2-A44G-01A-11D-A26I-08	989893	1879669	179035591	26	72											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	258					0	0	1	0	0	A	14756009	G	A	14756009	2	1	2	1	0	0	0	0	0	0	0	1	623	1165	41	2		2	ANKH	5	14756009	Silent	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	12876340	14756009	166159251	27	73											
RAD17	5884	broad.mit.edu	37	chr5	68692363	68692363	+	Missense_Mutation	SNP	T	T	A													caaacctcagtggtttctaaTaaataaaaaggtaaaaaaaa							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354868.5_Missense_Mutation_p.I521K|RAD17_ENST00000361732.2_Missense_Mutation_p.I521K|RAD17_ENST00000282891.6_Missense_Mutation_p.I435K|RAD17_ENST00000358030.2_Missense_Mutation_p.I356K|RAD17_ENST00000521422.1_Missense_Mutation_p.I356K|RAD17_ENST00000305138.4_Missense_Mutation_p.I521K|RAD17_ENST00000380774.3_Missense_Mutation_p.I532K|RAD17_ENST00000354312.3_Missense_Mutation_p.I521K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000345306.6_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					10	83					0	0	1	0	0	A	68692363	T	A	68692363	3	1	2	1	0	0	0	0	1	0	0	0	13031	1406	49	5	1658	5	RAD17	5	68692363	Missense_Mutation	SNP	T	TCGA-F2-A44G-01A-11D-A26I-08	53936354	68692363	112222897	28	74	2	2									
RAD17	5884	broad.mit.edu	37	chr5	68692367	68692367	+	Missense_Mutation	SNP	T	T	A													cctcagtggtttctaataaaTaaaaaggtaaaaaaaaaaaa							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:68692367T>A	ENST00000509734.1	+	15	2277	c.1599T>A	c.(1597-1599)aaT>aaA	p.N533K	RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	533	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)		TTCTAATAAATAAAAAGGTAA	0.338								Other conserved DNA damage response genes					11	78					0	0	1	0	0	A	68692367	T	A	68692367	3	1	2	1	0	0	0	0	1	0	0	0	13031	1403	49	5	1662	5	RAD17	5	68692367	Missense_Mutation	SNP	T	TCGA-F2-A44G-01A-11D-A26I-08	4	68692367	112222893	29	75	2	2									
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000512.1	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													14	79					0	0	1	0	0	T	73981215	C	T	73981215	3	4	2	1	0	0	0	0	1	0	0	0	7115	875	31	1	132	1	HEXB	5	73981215	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	5288848	73981215	106934045	30	76											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.E1328G|VCAN_ENST00000512590.2_Missense_Mutation_p.E1280G	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													63	387					0	0	1	0	0	G	82818108	A	G	82818108	3	3	2	1	0	0	0	0	1	0	0	0	17198	304	11	3	4005	3	VCAN	5	82818108	Missense_Mutation	SNP	A	TCGA-F2-A44G-01A-11D-A26I-08	8836893	82818108	98097152	31	77											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355180.3_Missense_Mutation_p.T450M|TRPC7_ENST00000426057.2_Missense_Mutation_p.T395M	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													27	160					0	0	1	0	0	A	135587384	G	A	135587384	3	1	2	1	0	0	0	0	1	0	0	0	16645	1145	40	1	1084	1	TRPC7	5	135587384	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	52769276	135587384	45327876	32	78											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													160	940					0	0	1	0	0	T	140581425	C	T	140581425	3	4	2	1	0	0	0	0	1	0	0	0	11583	768	27	1	2080	1	PCDHB11	5	140581425	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	4994041	140581425	40333835	33	79											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_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)			AGGAGCTCTGCGCTCAGAGCC	0.498													13	370					0	0	1	0	0	T	140772668	C	T	140772668	2	4	2	1	0	0	0	0	0	0	0	1	11607	776	27	1		1	PCDHGA8	5	140772668	Silent	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	191243	140772668	40142592	34	80											
UNC5A	90249	broad.mit.edu	37	chr5	176301302	176301304	+	In_Frame_Del	DEL	CAC	CAC	-													accatccagccggacctcagCaccaccaccaccacctacca							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:176301302_176301304delCAC	ENST00000329542.4	+	8	1387_1389	c.1113_1115delCAC	c.(1111-1116)agc>ag	p.ST371del	UNC5A_ENST00000261961.3_In_Frame_Del_p.ST331del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	371					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)			CGGACCTCAGCACCACCACCACC	0.645													7	865	---	---	---	---						-	176301304	CAC	-	176301302	7	5	2	1	0	1	0	1	0	0	0	0	17051	709	25	0	1143	0	UNC5A	5	176301302	In_Frame_Del	DEL	CAC	TCGA-F2-A44G-01A-11D-A26I-08	35528634	176301302	4613958	35	81											
DNAH8	1769	broad.mit.edu	37	chr6	38816440	38816440	+	Frame_Shift_Del	DEL	A	A	-													ttagatacaatgctccatttAaaaaaaatatccagaattgg							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr6:38816440delA	ENST00000359357.3	+	35	4665	c.4411delA	c.(4411-4413)aafs	p.K1472fs	DNAH8_ENST00000449981.2_Frame_Shift_Del_p.K1689fs|DNAH8_ENST00000441566.1_Frame_Shift_Del_p.K1472fs					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						TGCTCCATTTAAAAAAAATAT	0.343													7	312	---	---	---	---						-	38816440	A	-	38816440	7	5	2	1	0	1	0	1	0	0	0	0	4634	363	13	0	4541	0	DNAH8	6	38816440	Frame_Shift_Del	DEL	A	TCGA-F2-A44G-01A-11D-A26I-08		38816440	132298627	36	82											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A													caacagcagcagcagcagcaGcaacagcagcagcagcagca							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				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						agcagcagcagcaacagcagc	0.736													8	265					0	0	1	0	0	A	45390463	G	A	45390463	2	1	2	1	0	0	0	0	0	0	0	1	13800	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	6574023	45390463	125724604	37	83	3	2									
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G													cagcagcagcagcagcagcaAcagcagcagcagcagcagga							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				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						agcagcagcaacagcagcagc	0.731													8	251					0	0	1	0	0	G	45390466	A	G	45390466	2	3	2	1	0	0	0	0	0	0	0	1	13800	40	2	3		3	RUNX2	6	45390466	Silent	SNP	A	TCGA-F2-A44G-01A-11D-A26I-08	3	45390466	125724601	38	84	3	2									
COL12A1	1303	broad.mit.edu	37	chr6	75899298	75899298	+	Frame_Shift_Del	DEL	T	T	-													gttgccacctttatatggaaTtttttttattgcagcaagaa							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr6:75899298delT	ENST00000322507.8	-	6	937	c.628delA	c.(628-630)ttfs	p.I210fs	COL12A1_ENST00000483888.2_Frame_Shift_Del_p.I210fs|COL12A1_ENST00000416123.2_Frame_Shift_Del_p.I210fs|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	210	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						TTATATGGAATTTTTTTTATT	0.323													9	961	---	---	---	---						-	75899298	T	-	75899298	7	5	2	1	0	1	0	1	0	0	0	0	3692	1493	52	0	8807	0	COL12A1	6	75899298	Frame_Shift_Del	DEL	T	TCGA-F2-A44G-01A-11D-A26I-08	30508832	75899298	95215769	39	85											
SHPRH	257218	broad.mit.edu	37	chr6	146264834	146264836	+	In_Frame_Del	DEL	ATC	ATC	-													ttataataataatagtaaggAtcatcatcatcatcagaggt							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr6:146264834_146264836delATC	ENST00000367503.3	-	9	2079_2081	c.1681_1683delGAT	c.(1681-1683)del	p.D561del	SHPRH_ENST00000367505.2_In_Frame_Del_p.D561del|SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del|SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	561					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)		AATAGTAAGGATCATCATCATCA	0.36													10	785	---	---	---	---						-	146264836	ATC	-	146264834	7	5	2	1	0	1	0	1	0	0	0	0	14346	330	12	0	3500	0	SHPRH	6	146264834	In_Frame_Del	DEL	ATC	TCGA-F2-A44G-01A-11D-A26I-08	70365536	146264834	24850233	40	86											
TBP	6908	broad.mit.edu	37	chr6	170871043	170871043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcaacagcagcagcagcagca	11	14	0	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				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	p.Q73Q(1)		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)		agcagcaacagcaacagcagc	0.562													11	351					0	0	1	0	0	A	170871043	G	A	170871043	2	1	2	1	0	0	0	0	0	0	0	1	15704	962	34	2		2	TBP	6	170871043	Silent	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	24606209	170871043	244024	41	87											
TWISTNB	221830	broad.mit.edu	37	chr7	19738111	19738113	+	In_Frame_Del	DEL	TTC	TTC	-													cctgaacttcctggtgctttTtcttcttcttctttttcttt							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:19738111_19738113delTTC	ENST00000222567.5	-	4	913_915	c.843_845delGAA	c.(841-846)aaa>aa	p.KK281del		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	281	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTGGTGCTTTTTCTTCTTCTTCT	0.433													9	3309	---	---	---	---						-	19738113	TTC	-	19738111	7	5	2	1	0	1	0	1	0	0	0	0	16846	1841	64	0	175	0	TWISTNB	7	19738111	In_Frame_Del	DEL	TTC	TCGA-F2-A44G-01A-11D-A26I-08		19738111	139400552	42	88											
ELN	2006	broad.mit.edu	37	chr7	73462847	73462849	+	In_Frame_Del	DEL	GCA	GCA	-													ccccaggggttggcccccagGcagcagcagcagcggcagct					rs140742644		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:73462847_73462849delGCA	ENST00000252034.7	+	15	1159_1161	c.760_762delGCA	c.(760-762)del	p.A260del	ELN_ENST00000320492.7_In_Frame_Del_p.A224del|ELN_ENST00000320399.6_In_Frame_Del_p.A260del|ELN_ENST00000357036.5_In_Frame_Del_p.A265del|ELN_ENST00000380575.4_In_Frame_Del_p.A250del|ELN_ENST00000445912.1_In_Frame_Del_p.A260del|ELN_ENST00000414324.1_In_Frame_Del_p.A255del|ELN_ENST00000380576.5_In_Frame_Del_p.A260del|ELN_ENST00000380553.4_In_Frame_Del_p.A143del|ELN_ENST00000458204.1_In_Frame_Del_p.A250del|ELN_ENST00000380562.4_In_Frame_Del_p.A260del|ELN_ENST00000358929.4_In_Frame_Del_p.A260del|ELN_ENST00000380584.4_In_Frame_Del_p.A246del|ELN_ENST00000429192.1_In_Frame_Del_p.A265del	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	260	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)	TGGCCCCCAGgcagcagcagcag	0.621			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						7	779	---	---	---	---						-	73462849	GCA	-	73462847	7	5	2	1	0	1	0	1	0	0	0	0	5099	1203	42	0	833	0	ELN	7	73462847	In_Frame_Del	DEL	GCA	TCGA-F2-A44G-01A-11D-A26I-08	53724736	73462847	85675816	43	89											
EIF4H	7458	broad.mit.edu	37	chr7	73609131	73609132	+	Frame_Shift_Ins	INS	-	-	C													ccaggcgaccggcgaacaggINScccccccatgggcagccgct							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:73609131_73609132insC	ENST00000265753.8	+	6	669_670	c.530_531insC	c.(529-531)gccfs	p.A177fs	EIF4H_ENST00000495187.1_3'UTR|EIF4H_ENST00000353999.6_Frame_Shift_Ins_p.A157fs	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	177					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						CGGCGAACAGGCCCCCCCATGG	0.569													8	702	---	---	---	---						C	73609132	-	C	73609131	7	5	2	1	0	1	1	0	0	0	0	0	5067	1203	42	0	552	0	EIF4H	7	73609131	Frame_Shift_Ins	INS	-	TCGA-F2-A44G-01A-11D-A26I-08	146284	73609131	85529532	44	90											
TNPO3	23534	broad.mit.edu	37	chr7	128610259	128610259	+	Frame_Shift_Del	DEL	G	G	-													gccacatctggtagggtataGggggggaggcaaaagcagca							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:128610259delG	ENST00000393245.1	-	20	3016	c.2643delC	c.(2641-2643)ccfs	p.P881fs	TNPO3_ENST00000471234.1_Frame_Shift_Del_p.P783fs|TNPO3_ENST00000471166.1_Frame_Shift_Del_p.P881fs|TNPO3_ENST00000265388.5_Frame_Shift_Del_p.P847fs|TNPO3_ENST00000482320.1_Frame_Shift_Del_p.P781fs	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	847					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GTAGGGTATAGGGGGGGAGGC	0.483													10	1345	---	---	---	---						-	128610259	G	-	128610259	7	5	2	1	0	1	0	1	0	0	0	0	16397	987	35	0	242	0	TNPO3	7	128610259	Frame_Shift_Del	DEL	G	TCGA-F2-A44G-01A-11D-A26I-08	55001128	128610259	30528404	45	91											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393054.1_Missense_Mutation_p.L117F|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.L117F|ATP6V0A4_ENST00000483139.1_5'UTR	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													92	512					0	0	1	0	0	G	138447711	C	G	138447711	3	3	2	1	0	0	0	0	1	0	0	0	1168	825	29	5	2239	5	ATP6V0A4	7	138447711	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	9837452	138447711	20690952	46	92											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Intron|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													14	133					0	0	1	0	0	T	150716447	C	T	150716447	2	4	2	1	0	0	0	0	0	0	0	1	1102	639	23	1		1	ATG9B	7	150716447	Silent	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	12268736	150716447	8422216	47	93											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	235					0	0	1	0	0	T	1626541	C	T	1626541	3	4	2	1	0	0	0	0	1	0	0	0	4588	768	27	1	2240	1	DLGAP2	8	1626541	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		1626541	144737481	48	94											
DPYS	1807	broad.mit.edu	37	chr8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-													cctgtgaaacccaccacgccTttttcccatattacggacat							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aafs	p.K362fs		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					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)			CCACCACGCCTTTTTCCCATA	0.478													7	1530	---	---	---	---						-	105440214	T	-	105440214	7	5	2	1	0	1	0	1	0	0	0	0	4772	1606	56	0	489	0	DPYS	8	105440214	Frame_Shift_Del	DEL	T	TCGA-F2-A44G-01A-11D-A26I-08	103813673	105440214	40923808	49	95											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G891R|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G891R|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G754R|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA	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													20	204					0	0	1	0	0	A	106815377	G	A	106815377	3	1	2	1	0	0	0	0	1	0	0	0	17716	1348	47	2	3097	2	ZFPM2	8	106815377	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	1375163	106815377	39548645	50	96											
PKHD1L1	93035	broad.mit.edu	37	chr8	110539106	110539108	+	In_Frame_Del	DEL	GCA	GCA	-													agagtctgtctctagcagtgGcagcagcagcagcagcaaca							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr8:110539106_110539108delGCA	ENST00000378402.5	+	77	12682_12684	c.12578_12580delGCA	c.(12577-12582)ggc>g	p.GS4193del		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4193	Poly-Ser.				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)			TCTagcagtggcagcagcagcag	0.433										HNSCC(38;0.096)			7	105	---	---	---	---						-	110539108	GCA	-	110539106	7	5	2	1	0	1	0	1	0	0	0	0	12020	1203	42	0	12884	0	PKHD1L1	8	110539106	In_Frame_Del	DEL	GCA	TCGA-F2-A44G-01A-11D-A26I-08	3723729	110539106	35824916	51	97											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000336654.5_Missense_Mutation_p.D255Y|CDK20_ENST00000325303.8_Missense_Mutation_p.D263Y|CDK20_ENST00000375871.4_Missense_Mutation_p.W200C|CDK20_ENST00000605159.1_Missense_Mutation_p.D242Y	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													130	808					1.6318e-82	1.95816e-82	1	1	0	A	90584165	C	A	90584165	3	1	2	1	0	0	0	0	1	0	0	0	3159	856	30	2	261	2	CDK20	9	90584165	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		90584165	50629266	52	98											
XPA	7507	broad.mit.edu	37	chr9	100455962	100455964	+	In_Frame_Del	DEL	TTC	TTC	-													acaacttttccaattttctgTtcttcttcttcttcctcttc					rs3176652		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr9:100455962_100455964delTTC	ENST00000375128.4	-	2	314_316	c.250_252delGAA	c.(250-252)del	p.E84del		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	84	Interaction with CEP164 and required for UV resistance.|Poly-Glu.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity	p.E84*(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CAATTTTCTGTTCTTCTTCTTCT	0.34			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				7	550	---	---	---	---						-	100455964	TTC	-	100455962	7	5	2	1	0	1	0	1	0	0	0	0	17500	1722	60	0	589	0	XPA	9	100455962	In_Frame_Del	DEL	TTC	TCGA-F2-A44G-01A-11D-A26I-08	9871797	100455962	40757469	53	99											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370151.4_Intron|DPCD_ENST00000370147.1_Intron|DPCD_ENST00000370148.2_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													7	27					0	0	1	0	0	T	103348197	C	T	103348197	3	4	2	1	0	0	0	0	1	0	0	0	4738	696	24	2		2	DPCD	10	103348197	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		103348197	32186550	54	100											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	117					0	0	1	0	0	A	125426350	G	A	125426350	3	1	2	1	0	0	0	0	1	0	0	0	6724	1087	38	1	429	1	GPR26	10	125426350	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	22078153	125426350	10108397	55	101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	463					0	0	1	0	0	A	125506294	G	A	125506294	4	1	2	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	56	102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_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													45	287					0	0	1	0	0	T	5364521	C	T	5364521	2	4	2	1	0	0	0	0	0	0	0	1	11139	639	23	1		1	OR51B5	11	5364521	Silent	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		5364521	129641995	57	103											
SLC22A9	114571	broad.mit.edu	37	chr11	63149668	63149669	+	Frame_Shift_Ins	INS	-	-	A													aaaaaagaactggaggcagcINSacaaaaaaaaaaaccttctc							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:63149668_63149669insA	ENST00000279178.3	+	6	1241_1242	c.992_993insA	c.(991-993)gcafs	p.A331fs	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	331					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGGAGGCAGCACAAAAAAAAA	0.406													7	971	---	---	---	---						A	63149669	-	A	63149668	7	5	2	1	0	1	1	0	0	0	0	0	14516	710	25	0	1014	0	SLC22A9	11	63149668	Frame_Shift_Ins	INS	-	TCGA-F2-A44G-01A-11D-A26I-08	57785147	63149668	71856848	58	104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540798.1_Missense_Mutation_p.S845T|RTN3_ENST00000356000.3_Missense_Mutation_p.S180T|RTN3_ENST00000341307.2_Missense_Mutation_p.S161T|RTN3_ENST00000537981.1_Missense_Mutation_p.S161T|RTN3_ENST00000339997.4_Missense_Mutation_p.S938T|RTN3_ENST00000354497.4_Intron	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													119	778					0	0	1	0	0	A	63520109	T	A	63520109	3	1	2	1	0	0	0	0	1	0	0	0	13779	1551	54	5	2887	5	RTN3	11	63520109	Missense_Mutation	SNP	T	TCGA-F2-A44G-01A-11D-A26I-08	370441	63520109	71486407	59	105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	460					6.4308e-24	7.33112e-24	1	1	0	A	102708080	C	A	102708080	4	1	2	1	0	0	0	0	0	1	0	0	9715	835	29	2	159	2	MMP3	11	102708080	Nonsense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	39187971	102708080	32298436	60	106											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)			17	99					0	0	1	0	0	T	25398284	C	T	25398284	3	4	2	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		25398284	108453611	61	107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	232					3.11337e-16	3.34835e-16	1	1	0	A	53170616	C	A	53170616	4	1	2	1	0	0	0	0	0	1	0	0	8532	632	22	2	1492	2	KRT76	12	53170616	Nonsense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	27772332	53170616	80681279	62	108											
OR10A7	121364	broad.mit.edu	37	chr12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-													ggctgtggtacccagatgtaCttcttcttcttctttggcag							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tac>ta	p.YF102del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414													7	1490	---	---	---	---						-	55615116	CTT	-	55615114	7	5	2	1	0	1	0	1	0	0	0	0	10943	576	20	0	308	0	OR10A7	12	55615114	In_Frame_Del	DEL	CTT	TCGA-F2-A44G-01A-11D-A26I-08	2444498	55615114	78236781	63	109											
SLITRK5	26050	broad.mit.edu	37	chr13	88329794	88329796	+	In_Frame_Del	DEL	CGG	CGG	-													aacatgcagtacagcgtgtaCggcggcggcggcggcacggg							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr13:88329794_88329796delCGG	ENST00000325089.6	+	2	2370_2372	c.2151_2153delCGG	c.(2149-2154)tac>ta	p.YG717del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	717						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)					ACAGCGTGTACGGCGGCGGCGGC	0.645													8	448	---	---	---	---						-	88329796	CGG	-	88329794	7	5	2	1	0	1	0	1	0	0	0	0	14800	547	19	0	2153	0	SLITRK5	13	88329794	In_Frame_Del	DEL	CGG	TCGA-F2-A44G-01A-11D-A26I-08		88329794	26840084	64	110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	215					0	0	1	0	0	A	68274196	G	A	68274196	3	1	2	1	0	0	0	0	1	0	0	0	17726	1115	39	1	6966	1	ZFYVE26	14	68274196	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08		68274196	39075344	65	111											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	371					2.0833e-19	2.30579e-19	1	1	0	A	35168180	C	A	35168180	3	1	2	1	0	0	0	0	1	0	0	0	832	710	25	2	1296	2	AQR	15	35168180	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		35168180	67363212	66	112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	336					8.00217e-19	8.68807e-19	1	1	0	T	2495532	G	T	2495532	3	4	2	1	0	0	0	0	1	0	0	0	2944	1145	40	4	1041	4	CCNF	16	2495532	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08		2495532	87859221	67	113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330684.3_Silent_p.T446T|GRIN2A_ENST00000404927.2_Silent_p.T446T|GRIN2A_ENST00000535259.1_Silent_p.T289T|GRIN2A_ENST00000562109.1_Silent_p.T446T|GRIN2A_ENST00000396575.2_Silent_p.T446T	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													60	389					5.86059e-21	6.61492e-21	1	1	0	T	9934952	G	T	9934952	2	4	2	1	0	0	0	0	0	0	0	1	6820	1335	47	2		2	GRIN2A	16	9934952	Silent	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	7439420	9934952	80419801	68	114											
NFAT5	10725	broad.mit.edu	37	chr16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-													aaaacacgttatctaatcaaCagcagcagcagcagcagcaa							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr16:69726420_69726422delCAG	ENST00000349945.1	+	14	3962_3964	c.2410_2412delCAG	c.(2410-2412)del	p.Q812del	NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q804Q(1)|p.Q898Q(1)		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						ATCTAATcaacagcagcagcagc	0.473													16	390	---	---	---	---						-	69726422	CAG	-	69726420	7	5	2	1	0	1	0	1	0	0	0	0	10407	479	17	0	2742	0	NFAT5	16	69726420	In_Frame_Del	DEL	CAG	TCGA-F2-A44G-01A-11D-A26I-08	59791468	69726420	20628333	69	115											
MYH10	4628	broad.mit.edu	37	chr17	8397095	8397097	+	In_Frame_Del	DEL	CCT	CCT	-													cttctccaggttcttcctggCctcctcctcctcctcctgct							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:8397095_8397097delCCT	ENST00000360416.3	-	32	4301_4303	c.4163_4165delAGG	c.(4162-4167)gcc>g	p.EA1388del	MYH10_ENST00000379980.4_In_Frame_Del_p.EA1373del|MYH10_ENST00000396239.1_In_Frame_Del_p.EA1378del|MYH10_ENST00000269243.4_In_Frame_Del_p.EA1357del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1357					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						TTCTTCCTGGCCTCCTCCTCCTC	0.596													7	292	---	---	---	---						-	8397097	CCT	-	8397095	7	5	2	1	0	1	0	1	0	0	0	0	10078	739	26	0	1906	0	MYH10	17	8397095	In_Frame_Del	DEL	CCT	TCGA-F2-A44G-01A-11D-A26I-08		8397095	72798115	70	116											
MYH10	4628	broad.mit.edu	37	chr17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-													ttttggaggatttggtttctTtcttcttcttcttcaaccct							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:8415820_8415822delTTC	ENST00000360416.3	-	24	3037_3039	c.2899_2901delGAA	c.(2899-2901)del	p.E967del	MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	936					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						TTTGGTTTCTTTCTTCTTCTTCT	0.35													12	359	---	---	---	---						-	8415822	TTC	-	8415820	7	5	2	1	0	1	0	1	0	0	0	0	10078	1838	64	0	3202	0	MYH10	17	8415820	In_Frame_Del	DEL	TTC	TCGA-F2-A44G-01A-11D-A26I-08	18725	8415820	72779390	71	117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Silent_p.I1128I|CTC-297N7.7_ENST00000399342.2_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													58	330					0	0	1	0	0	A	10432367	G	A	10432367	2	1	2	1	0	0	0	0	0	0	0	1	10083	1048	37	1		1	MYH2	17	10432367	Silent	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	2016547	10432367	70762843	72	118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:11837209G>A	ENST00000262442.3	+	65	12378	c.12310G>A	c.(12310-12312)Gat>Aat	p.D4104N	DNAH9_ENST00000396001.2_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	4104					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													51	296					0	0	1	0	0	A	11837209	G	A	11837209	3	1	2	1	0	0	0	0	1	0	0	0	4635	1290	45	2	12568	2	DNAH9	17	11837209	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	1404842	11837209	69358001	73	119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								65	319					0	0	1	0	0	G	36869292	A	G	36869292	2	3	2	1	0	0	0	0	0	0	0	1	9678	203	7	3		3	MLLT6	17	36869292	Silent	SNP	A	TCGA-F2-A44G-01A-11D-A26I-08	25032083	36869292	44325918	74	120											
TEX2	55852	broad.mit.edu	37	chr17	62291438	62291440	+	In_Frame_Del	DEL	TCC	TCC	-													ccctgaactcctcctcctctTcctcctcctcctcgccggat							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:62291438_62291440delTCC	ENST00000258991.3	-	2	222_224	c.138_140delGGA	c.(136-141)gaa>ga	p.EE50del	TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del|TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del			Q8IWB9	TEX2_HUMAN	testis expressed 2	50	Poly-Glu.				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)		ctcctcctcttcctcctcctcct	0.552													7	616	---	---	---	---						-	62291440	TCC	-	62291438	7	5	2	1	0	1	0	1	0	0	0	0	15840	1783	62	0	3308	0	TEX2	17	62291438	In_Frame_Del	DEL	TCC	TCGA-F2-A44G-01A-11D-A26I-08	25422146	62291438	18903772	75	121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591198.1_Intron|SEPT9_ENST00000427177.1_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000431235.2_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													5	175					0	0	1	0	0	A	75471704	T	A	75471704	3	1	2	1	0	0	0	0	1	0	0	0	14125	1580	55	5	924	5	SEPT9	17	75471704	Missense_Mutation	SNP	T	TCGA-F2-A44G-01A-11D-A26I-08	13180266	75471704	5723506	76	122											
KCTD1	284252	broad.mit.edu	37	chr18	24128262	24128264	+	In_Frame_Del	DEL	TCC	TCC	-													cctccagccccccacctccgTcctcctcctcctcctcgtcc							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr18:24128262_24128264delTCC	ENST00000417602.1	-	1	236_238	c.237_239delGGA	c.(235-240)gac>ga	p.ED79del	KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000408011.3_Intron	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	0	BTB.				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)			cccacctccgtcctcctcctcct	0.69													5	7	---	---	---	---						-	24128264	TCC	-	24128262	7	5	2	1	0	1	0	1	0	0	0	0	8140	1667	58	0	2378	0	KCTD1	18	24128262	In_Frame_Del	DEL	TCC	TCGA-F2-A44G-01A-11D-A26I-08		24128262	53948986	77	123											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	187					2.52088e-20	2.81745e-20	1	1	0	T	3980040	G	T	3980040	4	4	2	1	0	0	0	0	0	1	0	0	4955	1140	40	4	1229	4	EEF2	19	3980040	Nonsense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08		3980040	55148943	78	124											
UBXN6	80700	broad.mit.edu	37	chr19	4454085	4454085	+	Frame_Shift_Del	DEL	T	T	-													tgggcttctctttgtgggccTtttccctgggaacagaccga							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:4454085delT	ENST00000301281.6	-	2	213	c.89delA	c.(88-90)agfs	p.K30fs	CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_5'UTR	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	30						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTGTGGGCCTTTTCCCTGGG	0.667													11	1255	---	---	---	---						-	4454085	T	-	4454085	7	5	2	1	0	1	0	1	0	0	0	0	16977	1609	56	0	1276	0	UBXN6	19	4454085	Frame_Shift_Del	DEL	T	TCGA-F2-A44G-01A-11D-A26I-08	474045	4454085	54674898	79	125											
GTF2F1	2962	broad.mit.edu	37	chr19	6381791	6381793	+	In_Frame_Del	DEL	CTT	CTT	-													aaggcctcgtcgtctgaaccCttcttcttcttctttttcct							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:6381791_6381793delCTT	ENST00000394456.5	-	7	1215_1217	c.751_753delAAG	c.(751-753)del	p.K251del	GTF2F1_ENST00000429701.2_In_Frame_Del_p.K166del	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	251					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						CGTCTGAACCCTTCTTCTTCTTC	0.611													9	291	---	---	---	---						-	6381793	CTT	-	6381791	7	5	2	1	0	1	0	1	0	0	0	0	6899	680	24	0	828	0	GTF2F1	19	6381791	In_Frame_Del	DEL	CTT	TCGA-F2-A44G-01A-11D-A26I-08	1927706	6381791	52747192	80	126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534444.1_Silent_p.G845G|JAK3_ENST00000527670.1_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"								94	589					0	0	1	0	0	A	17943473	G	A	17943473	2	1	2	1	0	0	0	0	0	0	0	1	7983	1074	38	1		1	JAK3	19	17943473	Silent	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	11561682	17943473	41185510	81	127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	431					0	0	1	0	0	T	49447742	C	T	49447742	2	4	2	1	0	0	0	0	0	0	0	1	4507	535	19	1		1	DHDH	19	49447742	Silent	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	31504269	49447742	9681241	82	128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000292069.6_Missense_Mutation_p.G287E|ZNF667_ENST00000342634.3_Missense_Mutation_p.G415E|ZNF667_ENST00000591790.1_3'UTR			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													61	500					0	0	1	0	0	T	56953504	C	T	56953504	3	4	2	1	0	0	0	0	1	0	0	0	18131	623	22	2	976	2	ZNF667	19	56953504	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	7505762	56953504	2175479	83	129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	435					0	0	1	0	0	A	57175237	G	A	57175237	3	1	2	1	0	0	0	0	1	0	0	0	18233	1086	38	1	285	1	ZNF835	19	57175237	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	221733	57175237	1953746	84	130											
ZNF548	147694	broad.mit.edu	37	chr19	57908592	57908592	+	Frame_Shift_Del	DEL	T	T	-													gggttaggctgtgttaccccTttttacccaaaggcagctct							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:57908592delT	ENST00000598895.1	+	3	444	c.228delT	c.(226-228)ccfs	p.P76fs	AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000336128.7_Intron|ZNF548_ENST00000597400.1_Intron|AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000366197.5_Intron			Q8NEK5	ZN548_HUMAN	zinc finger protein 548	0	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)		GTGTTACCCCTTTTTACCCAA	0.542													7	1798	---	---	---	---						-	57908592	T	-	57908592	7	5	2	1	0	1	0	1	0	0	0	0	18037	1624	56	0		0	ZNF548	19	57908592	Frame_Shift_Del	DEL	T	TCGA-F2-A44G-01A-11D-A26I-08	733355	57908592	1220391	85	131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000603534.1_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.D448A|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.D448A|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.T385P	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)			6	18					0	0	1	0	0	C	57429663	A	C	57429663	3	2	2	1	0	0	0	0	1	0	0	0	6552	275	10	3	2087	3	GNAS	20	57429663	Missense_Mutation	SNP	A	TCGA-F2-A44G-01A-11D-A26I-08		57429663	5595857	86	132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407298.3_Missense_Mutation_p.A134V|APOBEC3B_ENST00000333467.3_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													54	375					0	0	1	0	0	T	39382043	C	T	39382043	3	4	2	1	0	0	0	0	1	0	0	0	787	768	27	1	411	1	APOBEC3B	22	39382043	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		39382043	11922523	87	133											
CNKSR2	22866	broad.mit.edu	37	chrX	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-													aacccccagaggtggaggaaGaggaggaggaggaggaggag							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:21627678_21627680delGAG	ENST00000425654.2	+	19	3025_3027	c.2545_2547delGAG	c.(2545-2547)del	p.E856del	CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886					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						ggtggaggaagaggaggaggagg	0.517													16	297	---	---	---	---						-	21627680	GAG	-	21627678	7	5	2	1	0	1	0	1	0	0	0	0	3630	943	33	0	2713	0	CNKSR2	23	21627678	In_Frame_Del	DEL	GAG	TCGA-F2-A44G-01A-11D-A26I-08		21627678	133642882	88	134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:40539348delT	ENST00000324817.1	-	21	2766	c.2648delA	c.(2647-2649)acfs	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													58	420	---	---	---	---						-	40539348	T	-	40539348	7	5	2	1	0	1	0	1	0	0	0	0	9482	1725	60	0	1760	0	MED14	23	40539348	Frame_Shift_Del	DEL	T	TCGA-F2-A44G-01A-11D-A26I-08	18911670	40539348	114731212	89	135											
MED12	9968	broad.mit.edu	37	chrX	70360648	70360650	+	In_Frame_Del	DEL	CAG	CAG	-													agcagcagcagcaacagcaaCagcagcagcagcagcagcag							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:70360648_70360650delCAG	ENST00000333646.6	+	42	6416_6418	c.6217_6219delCAG	c.(6217-6219)del	p.Q2079del	MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374080.3_In_Frame_Del_p.Q2076del|MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del	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)					gcaacagcaacagcagcagcagc	0.621			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						11	389	---	---	---	---						-	70360650	CAG	-	70360648	7	5	2	1	0	1	0	1	0	0	0	0	9478	479	17	0	6374	0	MED12	23	70360648	In_Frame_Del	DEL	CAG	TCGA-F2-A44G-01A-11D-A26I-08	29821300	70360648	84909912	90	136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000486615.1_Intron|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													95	714					0	0	1	0	0	T	100078981	C	T	100078981	3	4	2	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	29718333	100078981	55191579	91	137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447531.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000361229.4_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													129	802					0	0	1	0	0	T	102004384	C	T	102004384	3	4	2	1	0	0	0	0	1	0	0	0	1419	768	27	1	463	1	BHLHB9	23	102004384	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	1925403	102004384	53266176	92	138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TEX13A_ENST00000413579.1_Missense_Mutation_p.T316N|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.L317I|IL1RAPL2_ENST00000344799.4_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													51	330					3.21987e-24	3.70773e-24	1	1	0	T	104463929	G	T	104463929	3	4	2	1	0	0	0	0	1	0	0	0	15835	1020	36	2	286	2	TEX13A	23	104463929	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	2459545	104463929	50806631	93	139											
TRNAU1AP	54952	broad.mit.edu	37	chr1	28893900	28893900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactggggtctaagcctgtgCggctgagcgtggcaatccct	15	11	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:28893900C>T	ENST00000373830.3	+	6	531	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W		NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	169	RRM 2.				selenocysteine incorporation	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						TAAGCCTGTGCGGCTGAGCGT	0.542													5	223					0	0	1	0	0	T	28893900	C	T	28893900	3	4	3	1	0	0	0	0	1	0	0	0	16633	759	27	1	527	1	TRNAU1AP	1	28893900	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08		28893900	220356721	1	140											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_052896.3	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													52	418					0	0	1	0	0	T	34401481	C	T	34401481	3	4	3	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	5507581	34401481	214849140	2	141											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347													13	251	---	---	---	---						-	46184898	AC	-	46184897	7	5	3	1	0	1	0	1	0	0	0	0	7844	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-FB-A5VM-01A-11D-A32N-08	11783416	46184897	203065724	3	142											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	170					0	0	1	0	0	C	70641617	G	C	70641617	3	2	3	1	0	0	0	0	1	0	0	0	9043	942	33	5	991	5	LRRC40	1	70641617	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	24456720	70641617	178609004	4	143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:71873147C>T	ENST00000357731.4	-	7	1286	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	NEGR1_ENST00000434200.1_Silent_p.K303K|NEGR1_ENST00000306821.3_Silent_p.K221K|ZRANB2-AS2_ENST00000430605.1_RNA	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	349					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													23	137					0	0	1	0	0	T	71873147	C	T	71873147	2	4	3	1	0	0	0	0	0	0	0	1	10364	912	32	2		2	NEGR1	1	71873147	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	1231530	71873147	177377474	5	144											
CHI3L2	1117	broad.mit.edu	37	chr1	111784919	111784919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacatggatgacttcactgGcaaatcctgcaaccagggcc	10	12	1	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:111784919G>A	ENST00000445067.2	+	12	1877	c.1106G>A	c.(1105-1107)gGc>gAc	p.G369D	CHI3L2_ENST00000529459.1_3'UTR|CHI3L2_ENST00000524472.1_Missense_Mutation_p.G290D|CHI3L2_ENST00000466741.1_Missense_Mutation_p.G290D|CHI3L2_ENST00000369744.2_Missense_Mutation_p.G359D|CHI3L2_ENST00000369748.4_Missense_Mutation_p.G369D			Q15782	CH3L2_HUMAN	chitinase 3-like 2	369					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		GACTTCACTGGCAAATCCTGC	0.507													5	491					0	0	1	0	0	A	111784919	G	A	111784919	3	1	3	1	0	0	0	0	1	0	0	0	3363	1203	42	2	1144	2	CHI3L2	1	111784919	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	39911772	111784919	137465702	6	145											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000476843.1_3'UTR|INTS3_ENST00000512605.1_Missense_Mutation_p.T5M|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000435409.2_Missense_Mutation_p.T211M|RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000318967.2_Missense_Mutation_p.T211M			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													11	128					0	0	1	0	0	T	153723618	C	T	153723618	3	4	3	1	0	0	0	0	1	0	0	0	7823	536	19	1	658	1	INTS3	1	153723618	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	41938699	153723618	95527003	7	146											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	411					0	0	1	0	0	A	156038083	G	A	156038083	3	1	3	1	0	0	0	0	1	0	0	0	12964	1203	42	2	272	2	RAB25	1	156038083	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	2314465	156038083	93212538	8	147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	215					0	0	1	0	0	A	161953822	G	A	161953822	2	1	3	1	0	0	0	0	0	0	0	1	10906	932	33	2		2	OLFML2B	1	161953822	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	5915739	161953822	87296799	9	148											
LMX1A	4009	broad.mit.edu	37	chr1	165173265	165173265	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctatccaggtcatggaaaAggggctcggcacctgaaatg	13	10	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:165173265A>G	ENST00000342310.3	-	9	1383	c.1001T>C	c.(1000-1002)cTt>cCt	p.L334P	LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_Missense_Mutation_p.L334P|LMX1A_ENST00000294816.2_Missense_Mutation_p.L334P	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	334						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)					GTCATGGAAAAGGGGCTCGGC	0.498													5	308					0	0	1	0	0	G	165173265	A	G	165173265	3	3	3	1	0	0	0	0	1	0	0	0	8902	72	3	3	151	3	LMX1A	1	165173265	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	3219443	165173265	84077356	10	149											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_077734.1	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													35	284					1.04352e-10	1.14027e-10	1	1	0	A	186916023	C	A	186916023	2	1	3	1	0	0	0	0	0	0	0	1	12049	581	21	2		2	PLA2G4A	1	186916023	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	21742758	186916023	62334598	11	150											
PPP1R12B	4660	broad.mit.edu	37	chr1	202407189	202407190	+	Frame_Shift_Ins	INS	-	-	T													atgggggaattccaaggcagINSttttttttttccatgaaaat							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:202407189_202407190insT	ENST00000480184.1	+	10	1627_1628	c.1495_1496insT	c.(1495-1497)tttfs	p.F499fs	PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000406302.3_Intron	NM_001167857.1	NP_001161329.1	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	499					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCCAAGGCAGTTTTTTTTTTC	0.391													8	170	---	---	---	---						T	202407190	-	T	202407189	7	5	3	1	0	1	1	0	0	0	0	0	12404	1029	36	0	1533	0	PPP1R12B	1	202407189	Frame_Shift_Ins	INS	-	TCGA-FB-A5VM-01A-11D-A32N-08	15491166	202407189	46843432	12	151											
OTOF	9381	broad.mit.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-													tctggctcctccgcagtgccCttcttcttcttcttcttctc							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)del	p.K1310del	OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				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)					CCGCAGTGCCcttcttcttcttc	0.576													7	344	---	---	---	---						-	26693556	CTT	-	26693554	7	5	3	1	0	1	0	1	0	0	0	0	11350	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-FB-A5VM-01A-11D-A32N-08		26693554	216505819	13	152											
SOS1	6654	broad.mit.edu	37	chr2	39213243	39213243	+	Frame_Shift_Del	DEL	T	T	-													gaaggcattgccatggtcacTttttttgcccaaagggggag							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:39213243delT	ENST00000426016.1	-	24	3810	c.3724delA	c.(3724-3726)gtfs	p.S1242fs	SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs|SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1242					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)				CCATGGTCACTTTTTTTGCCC	0.517									Noonan syndrome				8	407	---	---	---	---						-	39213243	T	-	39213243	7	5	3	1	0	1	0	1	0	0	0	0	14990	1609	56	0	281	0	SOS1	2	39213243	Frame_Shift_Del	DEL	T	TCGA-FB-A5VM-01A-11D-A32N-08	12519689	39213243	203986130	14	153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000439055.1_Silent_p.N166N|ACOXL_ENST00000340561.4_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													58	373					0	0	1	0	0	T	111556628	C	T	111556628	2	4	3	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	72343385	111556628	131642745	15	154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540309.1_Intron|GPD2_ENST00000409125.4_Missense_Mutation_p.D397Y|GPD2_ENST00000438166.2_Missense_Mutation_p.D624Y|GPD2_ENST00000409674.1_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													28	304					7.38237e-10	8.01375e-10	1	1	0	T	157435503	G	T	157435503	3	4	3	1	0	0	0	0	1	0	0	0	6646	942	33	2	1920	2	GPD2	2	157435503	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	45878875	157435503	85763870	16	155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000283254.7_Missense_Mutation_p.D1374Y|SCN3A_ENST00000409101.3_Missense_Mutation_p.D1325Y	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													33	199					8.16721e-17	9.23006e-17	1	1	0	A	165953881	C	A	165953881	3	1	3	1	0	0	0	0	1	0	0	0	13972	826	29	2	1906	2	SCN3A	2	165953881	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	8518378	165953881	77245492	17	156											
RBM45	129831	broad.mit.edu	37	chr2	178977303	178977304	+	Frame_Shift_Ins	INS	-	-	G													ctggcagctctgcgagcggcINSgggggcttccgcccgggcgt					rs146365140	by1000genomes	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:178977303_178977304insG	ENST00000286070.5	+	1	122_123	c.30_31insG	c.(28-33)ggggggfs	p.GG10fs		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	10					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)			CTGCGAGCGGCGGGGGCTTCCG	0.644											OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	289	---	---	---	---						G	178977304	-	G	178977303	7	5	3	1	0	1	1	0	0	0	0	0	13191	755	27	0	32	0	RBM45	2	178977303	Frame_Shift_Ins	INS	-	TCGA-FB-A5VM-01A-11D-A32N-08	13023422	178977303	64222070	18	157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000383814.3_Intron|IL17RE_ENST00000295980.3_Intron|IL17RE_ENST00000421412.1_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													130	327					0	0	1	0	0	T	9956176	C	T	9956176	2	4	3	1	0	0	0	0	0	0	0	1	7687	812	28	2		2	IL17RE	3	9956176	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08		9956176	188066254	19	158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	383					0	0	1	0	0	G	98109887	A	G	98109887	3	3	3	1	0	0	0	0	1	0	0	0	11215	439	16	3	380	3	OR5K3	3	98109887	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	88153711	98109887	99912543	20	159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	466					0	0	1	0	0	A	140401600	G	A	140401600	3	1	3	1	0	0	0	0	1	0	0	0	16578	1145	40	1	644	1	TRIM42	3	140401600	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	42291713	140401600	57620830	21	160											
MED12L	116931	broad.mit.edu	37	chr3	150877786	150877786	+	Frame_Shift_Del	DEL	C	C	-													atcggggcccccagccctggCccccccggccctggcatgag							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:150877786delC	ENST00000474524.1	+	7	1043	c.1005delC	c.(1003-1005)ggfs	p.G335fs	MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335					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)			CCAGCCCTGGCCCCCCCGGCC	0.582													7	873	---	---	---	---						-	150877786	C	-	150877786	7	5	3	1	0	1	0	1	0	0	0	0	9479	726	26	0	1031	0	MED12L	3	150877786	Frame_Shift_Del	DEL	C	TCGA-FB-A5VM-01A-11D-A32N-08	10476186	150877786	47144644	22	161											
SPATA16	83893	broad.mit.edu	37	chr3	172643179	172643179	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgatattttttccaaaaaTtttccatcatctttgttttt	2	7	2	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:172643179T>G	ENST00000351008.3	-	7	1368	c.1185A>C	c.(1183-1185)aaA>aaC	p.K395N		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	395					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)			TTTCCAAAAATTTTCCATCAT	0.408													21	157					0	0	1	0	0	G	172643179	T	G	172643179	3	3	3	1	0	0	0	0	1	0	0	0	15057	1490	52	3	544	3	SPATA16	3	172643179	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	21765393	172643179	25379251	23	162											
CRIPAK	285464	broad.mit.edu	37	chr4	1388359	1388359	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcacacgtgcccatgTggagtgcccgcctgctcatg	11	16	2	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:1388359T>C	ENST00000324803.4	+	1	3020	c.60T>C	c.(58-60)tgT>tgC	p.C20C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	20					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)			CGTGCCCATGTGGAGTGCCCG	0.592													9	1144					0	0	1	0	0	C	1388359	T	C	1388359	2	2	3	1	0	0	0	0	0	0	0	1	3900	1702	59	3		3	CRIPAK	4	1388359	Silent	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08		1388359	189765917	24	163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515113.1_3'UTR|EVC_ENST00000264956.6_Silent_p.T660T			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													35	214					0	0	1	0	0	A	5798842	G	A	5798842	2	1	3	1	0	0	0	0	0	0	0	1	5313	1074	38	1		1	EVC	4	5798842	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	4410483	5798842	185355434	25	164											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	376					0	0	1	0	0	C	47163392	T	C	47163392	3	2	3	1	0	0	0	0	1	0	0	0	6201	1609	56	3	381	3	GABRB1	4	47163392	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	41364550	47163392	143990884	26	165											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	197					0	0	1	0	0	A	52860732	G	A	52860732	3	1	3	1	0	0	0	0	1	0	0	0	9063	1116	39	1	190	1	LRRC66	4	52860732	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	5697340	52860732	138293544	27	166											
LRRC66	339977	broad.mit.edu	37	chr4	52862094	52862094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgtcctcttttttgccgGcagcctgcacatcgcgggtg	13	13	1	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:52862094G>A	ENST00000343457.3	-	4	1100	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	365						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						TTTTTTGCCGGCAGCCTGCAC	0.582													4	167					0	0	1	0	0	A	52862094	G	A	52862094	3	1	3	1	0	0	0	0	1	0	0	0	9063	1203	42	2	1552	2	LRRC66	4	52862094	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	1362	52862094	138292182	28	167											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	90					0	0	1	0	0	T	88732603	C	T	88732603	2	4	3	1	0	0	0	0	0	0	0	1	7519	767	27	1		1	IBSP	4	88732603	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	35870509	88732603	102421673	29	168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:154542991G>T	ENST00000409959.3	+	28	3898	c.3849G>T	c.(3847-3849)caG>caT	p.Q1283H	KIAA0922_ENST00000440693.1_Missense_Mutation_p.Q1199H|KIAA0922_ENST00000409663.3_Missense_Mutation_p.Q1282H	NM_001131007.1	NP_001124479.1	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													16	129					2.35188e-11	2.62203e-11	1	1	0	T	154542991	G	T	154542991	3	4	3	1	0	0	0	0	1	0	0	0	8243	933	33	2	3959	2	KIAA0922	4	154542991	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	65810388	154542991	36611285	30	169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	301					0	0	1	0	0	G	5235183	A	G	5235183	3	3	3	1	0	0	0	0	1	0	0	0	260	43	2	3	1957	3	ADAMTS16	5	5235183	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08		5235183	175680077	31	170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	301					0	0	1	0	0	T	14610393	C	T	14610393	2	4	3	1	0	0	0	0	0	0	0	1	5418	535	19	1		1	FAM105A	5	14610393	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	9375210	14610393	166304867	32	171											
MTMR12	54545	broad.mit.edu	37	chr5	32233887	32233887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacatcttactttgaagcGcattcctttccgttggcctt	8	11	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:32233887G>A	ENST00000382142.3	-	15	1836	c.1666C>T	c.(1666-1668)Cgc>Tgc	p.R556C	MTMR12_ENST00000510216.1_5'UTR|MTMR12_ENST00000264934.5_Intron|MTMR12_ENST00000280285.5_Intron	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	556	Interaction with MTM1.|Myotubularin phosphatase.					cytoplasm	phosphatase activity	p.R556C(1)		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						ACTTTGAAGCGCATTCCTTTC	0.473													6	475					0	0	1	0	0	A	32233887	G	A	32233887	3	1	3	1	0	0	0	0	1	0	0	0	9989	1087	38	1	585	1	MTMR12	5	32233887	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	17623494	32233887	148681373	33	172											
GPR98	84059	broad.mit.edu	37	chr5	89953850	89953850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaacttcatgccatgcccGcaaaaagtgatttacaccca	6	12	1	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:89953850G>A	ENST00000405460.2	+	21	4603	c.4507G>A	c.(4507-4509)Gca>Aca	p.A1503T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1503					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)		TGCCATGCCCGCAAAAAGTGA	0.408													5	260					0	0	1	0	0	A	89953850	G	A	89953850	3	1	3	1	0	0	0	0	1	0	0	0	6762	1087	38	1	4589	1	GPR98	5	89953850	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	57719963	89953850	90961410	34	173											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000506873.1_5'UTR|KLHL3_ENST00000541417.1_Missense_Mutation_p.M116T|KLHL3_ENST00000394937.3_Missense_Mutation_p.M236T|KLHL3_ENST00000506491.1_Missense_Mutation_p.M154T|KLHL3_ENST00000309755.4_Missense_Mutation_p.M236T	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													39	163					0	0	1	0	0	G	136997650	A	G	136997650	3	3	3	1	0	0	0	0	1	0	0	0	8426	217	8	3	1092	3	KLHL3	5	136997650	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	47043800	136997650	43917610	35	174											
PCDHB7	0	broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	16	13	0	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		526	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A526A(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)			CCCTGCAGGCGTTCGAGTTCC	0.706													6	443					0.00448238	0.00459374	1	1	0	T	140553994	G	T	140553994	2	4	3	1	0	0	0	0	0	0	0	1	11594	1132	40	4		4	PCDHB7	5	140553994	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	3556344	140553994	40361266	36	175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	378					0	0	1	0	0	C	12121002	T	C	12121002	3	2	3	1	0	0	0	0	1	0	0	0	7227	1725	60	3	984	3	HIVEP1	6	12121002	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08		12121002	158994065	37	176											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	394					0	0	1	0	0	A	26413540	G	A	26413540	3	1	3	1	0	0	0	0	1	0	0	0	1565	1291	45	2	1364	2	BTN3A1	6	26413540	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	14292538	26413540	144701527	38	177											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	241					0	0	1	0	0	C	33374225	T	C	33374225	3	2	3	1	0	0	0	0	1	0	0	0	8354	1667	58	3	1819	3	KIFC1	6	33374225	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	6960685	33374225	137740842	39	178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	709					0	0	1	0	0	A	33659689	G	A	33659689	3	1	3	1	0	0	0	0	1	0	0	0	7966	1087	38	1	7656	1	ITPR3	6	33659689	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	285464	33659689	137455378	40	179											
TRERF1	55809	broad.mit.edu	37	chr6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-													caaaagccgccttctgagccTtttgcctctgttgttcctcc							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:42196333delT	ENST00000541110.1	-	18	3981	c.3413delA	c.(3412-3414)agfs	p.K1138fs	TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	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			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)			CTTCTGAGCCTTTTGCCTCTG	0.542													7	2028	---	---	---	---						-	42196333	T	-	42196333	7	5	3	1	0	1	0	1	0	0	0	0	16536	1609	56	0	253	0	TRERF1	6	42196333	Frame_Shift_Del	DEL	T	TCGA-FB-A5VM-01A-11D-A32N-08	8536644	42196333	128918734	41	180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	219					0	0	1	0	0	T	90422465	C	T	90422465	3	4	3	1	0	0	0	0	1	0	0	0	9465	884	31	1	9751	1	MDN1	6	90422465	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	48226132	90422465	80692602	42	181											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	283					2.31682e-05	2.43488e-05	1	1	0	T	111493921	G	T	111493921	3	4	3	1	0	0	0	0	1	0	0	0	14458	1232	43	2	373	2	SLC16A10	6	111493921	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	21071456	111493921	59621146	43	182											
C6orf70	0	broad.mit.edu	37	chr6	170162587	170162587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacttaggaatgtttttgCcacacttaacagatgtccaa	8	8	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:170162587C>T	ENST00000588451.1	+	9	1055	c.542C>T	c.(541-543)gCc>gTc	p.A181V	C6orf70_ENST00000418781.3_Missense_Mutation_p.A307V|C6orf70_ENST00000366772.2_Missense_Mutation_p.A307V|C6orf70_ENST00000366773.3_Missense_Mutation_p.A307V|C6orf70_ENST00000392095.4_Missense_Mutation_p.A181V			Q5T6L9	CF070_HUMAN		307						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		AATGTTTTTGCCACACTTAAC	0.383													6	490					0	0	1	0	0	T	170162587	C	T	170162587	3	4	3	1	0	0	0	0	1	0	0	0	2385	739	26	2	954	2	C6orf70	6	170162587	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	58668666	170162587	952480	44	183											
TMEM184A	202915	broad.mit.edu	37	chr7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC													ctcccgccggagccgccgctINSggggtgggtgccgggcctgg					rs3837151	by1000genomes	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)ccgcgg>ccGGCgcgg	p.389_390PR>PAR		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						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)		GAGCCGCCGCTGGGGTGGGTGC	0.703													9	168	---	---	---	---						GCC	1586663	-	GCC	1586662	7	5	3	1	0	1	1	0	0	0	0	0	16164	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-FB-A5VM-01A-11D-A32N-08		1586662	157552001	45	184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:36917614C>T	ENST00000310758.4	-	19	2470		c.e19+1		ELMO1_ENST00000341056.3_Splice_Site|ELMO1_ENST00000442504.1_Splice_Site|ELMO1_ENST00000396045.3_Splice_Site|ELMO1_ENST00000396040.2_Splice_Site|ELMO1_ENST00000448602.1_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													12	114					0	0	1	0	0	T	36917614	C	T	36917614	5	4	3	1	0	0	0	0	0	0	1	0	5093	550	19	1	376	1	ELMO1	7	36917614	Splice_Site	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	35330952	36917614	122221049	46	185											
ABCA13	154664	broad.mit.edu	37	chr7	48315041	48315041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttggcataagatattaccGtttgtcccaccttcaataaa	5	9	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:48315041G>A	ENST00000435803.1	+	17	5802	c.5778G>A	c.(5776-5778)ccG>ccA	p.P1926P		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1926					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						AGATATTACCGTTTGTCCCAC	0.373													67	417					0	0	1	0	0	A	48315041	G	A	48315041	2	1	3	1	0	0	0	0	0	0	0	1	31	1132	40	1		1	ABCA13	7	48315041	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	11397427	48315041	110823622	47	186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	202					0	0	1	0	0	T	99521174	A	T	99521174	3	4	3	1	0	0	0	0	1	0	0	0	6458	214	8	5	9	5	GJC3	7	99521174	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	51206133	99521174	59617489	48	187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415287.1_Missense_Mutation_p.V517M|SLC12A9_ENST00000275729.3_Missense_Mutation_p.V517M|SLC12A9_ENST00000428758.1_Missense_Mutation_p.V606M	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													70	486					0	0	1	0	0	A	100460407	G	A	100460407	3	1	3	1	0	0	0	0	1	0	0	0	14445	1145	40	1	1862	1	SLC12A9	7	100460407	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	939233	100460407	58678256	49	188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	225					0	0	1	0	0	A	117432633	G	A	117432633	3	1	3	1	0	0	0	0	1	0	0	0	4069	1145	40	1	4454	1	CTTNBP2	7	117432633	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	16972226	117432633	41706030	50	189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	372					0	0	1	0	0	A	10470231	G	A	10470231	2	1	3	1	0	0	0	0	0	0	0	1	13585	1103	39	1		1	RP1L1	8	10470231	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		10470231	135893791	51	190											
ADRA1A	148	broad.mit.edu	37	chr8	26627753	26627753	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcaaggctgggggttgaGggccctacacagcagcagac	15	10	1	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:26627753G>T	ENST00000380573.3	-	3	2337	c.1314C>A	c.(1312-1314)ccC>ccA	p.P438P	ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000276393.4_Silent_p.P438P|ADRA1A_ENST00000354550.4_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000380581.2_Intron			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	438					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)	TGGGGGTTGAGGGCCCTACAC	0.522													7	611					0.0293803	0.0297408	1	1	0	T	26627753	G	T	26627753	2	4	3	1	0	0	0	0	0	0	0	1	333	987	35	2		2	ADRA1A	8	26627753	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	16157522	26627753	119736269	52	191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000262231.10_Missense_Mutation_p.R937Q|RIMS2_ENST00000436393.2_Missense_Mutation_p.R838Q	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)			17	141					0	0	1	0	0	A	105026802	G	A	105026802	3	1	3	1	0	0	0	0	1	0	0	0	13420	1058	37	1	3563	1	RIMS2	8	105026802	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	78399049	105026802	41337220	53	192											
DPYS	1807	broad.mit.edu	37	chr8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-													cctgtgaaacccaccacgccTttttcccatattacggacat							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aafs	p.K362fs		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					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)			CCACCACGCCTTTTTCCCATA	0.478													7	784	---	---	---	---						-	105440214	T	-	105440214	7	5	3	1	0	1	0	1	0	0	0	0	4772	1606	56	0	489	0	DPYS	8	105440214	Frame_Shift_Del	DEL	T	TCGA-FB-A5VM-01A-11D-A32N-08	413412	105440214	40923808	54	193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	410					0	0	1	0	0	A	133142050	G	A	133142050	3	1	3	1	0	0	0	0	1	0	0	0	8128	1116	39	1	544	1	KCNQ3	8	133142050	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	27701836	133142050	13221972	55	194											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	410					0	0	1	0	0	T	133153411	C	T	133153411	3	4	3	1	0	0	0	0	1	0	0	0	8128	768	27	1	1212	1	KCNQ3	8	133153411	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	11361	133153411	13210611	56	195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	149					0	0	1	0	0	A	146076505	G	A	146076505	2	1	3	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	57	196											
SMARCA2	6595	broad.mit.edu	37	chr9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-													agcaacaacagcagcagcaaCagcagcagcagcagcagcag					rs113070757	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr9:2039777_2039779delCAG	ENST00000382203.1	+	4	876_878	c.667_669delCAG	c.(667-669)del	p.Q238del	SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	238	Poly-Gln.			Missing (in Ref. 1; CAA51407).	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)		gcagcagcaacagcagcagcagc	0.635													10	120	---	---	---	---						-	2039779	CAG	-	2039777	7	5	3	1	0	1	0	1	0	0	0	0	14823	479	17	0	677	0	SMARCA2	9	2039777	In_Frame_Del	DEL	CAG	TCGA-FB-A5VM-01A-11D-A32N-08		2039777	139173654	58	197											
LCN12	286256	broad.mit.edu	37	chr9	139847375	139847375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggttcgtcctgggcctggCgggcaacagcttcaggccgg	16	12	1	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr9:139847375C>T	ENST00000371633.3	+	2	146	c.146C>T	c.(145-147)gCg>gTg	p.A49V		NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	49					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	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)		CTGGGCCTGGCGGGCAACAGC	0.647													8	924					0	0	1	0	0	T	139847375	C	T	139847375	3	4	3	1	0	0	0	0	1	0	0	0	8721	768	27	1	152	1	LCN12	9	139847375	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	137807598	139847375	1366056	59	198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	237					0	0	1	0	0	A	76797813	G	A	76797813	2	1	3	1	0	0	0	0	0	0	0	1	4830	1277	45	2		2	DUPD1	10	76797813	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		76797813	58736934	60	199											
CTBP2	1488	broad.mit.edu	37	chr10	126682486	126682486	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctgccctccttgagggcTtgtgctaaggctttctcgtc	10	13	1	1	rs76949963	by1000genomes	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr10:126682486T>C	ENST00000309035.6	-	6	2599	c.2469A>G	c.(2467-2469)caA>caG	p.Q823Q	CTBP2_ENST00000337195.5_Silent_p.Q283Q|CTBP2_ENST00000411419.2_Silent_p.Q283Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q|CTBP2_ENST00000334808.6_Silent_p.Q351Q|CTBP2_ENST00000494626.2_Silent_p.Q283Q	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	283					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)		CCTTGAGGGCTTGTGCTAAGG	0.617													10	718					0	0	1	0	0	C	126682486	T	C	126682486	2	2	3	1	0	0	0	0	0	0	0	1	4022	1606	56	3		3	CTBP2	10	126682486	Silent	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	49884673	126682486	8852261	61	200											
CTBP2	1488	broad.mit.edu	37	chr10	126682516	126682516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttctcgtccaccaggccGccacgggctgcgttcacaag	11	16	2	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr10:126682516G>A	ENST00000309035.6	-	6	2569	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000494626.2_Silent_p.G273G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					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)		CCACCAGGCCGCCACGGGCTG	0.582													10	678					0	0	1	0	0	A	126682516	G	A	126682516	2	1	3	1	0	0	0	0	0	0	0	1	4022	1074	38	1		1	CTBP2	10	126682516	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	30	126682516	8852231	62	201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_775859.3	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													62	354					0	0	1	0	0	G	18736985	C	G	18736985	3	3	3	1	0	0	0	0	1	0	0	0	7644	478	17	5	2507	5	IGSF22	11	18736985	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08		18736985	116269531	63	202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	229					0	0	1	0	0	G	22281145	A	G	22281145	2	3	3	1	0	0	0	0	0	0	0	1	694	11	1	3		3	ANO5	11	22281145	Silent	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	3544160	22281145	112725371	64	203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000532057.1_Silent_p.E134E|FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000531080.1_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													26	143					0	0	1	0	0	C	33763529	T	C	33763529	2	2	3	1	0	0	0	0	0	0	0	1	5772	1606	56	3		3	FBXO3	11	33763529	Silent	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	11482384	33763529	101242987	65	204	4	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000532057.1_Missense_Mutation_p.E134K|FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000531080.1_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													25	140					0	0	1	0	0	T	33763531	C	T	33763531	3	4	3	1	0	0	0	0	1	0	0	0	5772	835	29	2	80	2	FBXO3	11	33763531	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	2	33763531	101242985	66	205	4	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	468					0	0	1	0	0	C	56237570	G	C	56237570	4	2	3	1	0	0	0	0	0	1	0	0	11222	1294	45	5	521	5	OR5M3	11	56237570	Nonsense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	22474039	56237570	78768946	67	206											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57087751	57087751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacaggcggtcggggctgGcaaggacctccttccgaggc	15	15	0	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:57087751G>A	ENST00000532437.1	-	2	841	c.530C>T	c.(529-531)gCc>gTc	p.A177V	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A177V			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	177	Pro-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)				GTCGGGGCTGGCAAGGACCTC	0.657													6	532					0	0	1	0	0	A	57087751	G	A	57087751	3	1	3	1	0	0	0	0	1	0	0	0	16380	1203	42	2	4695	2	TNKS1BP1	11	57087751	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	850181	57087751	77918765	68	207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	251					0	0	1	0	0	A	59599213	G	A	59599213	3	1	3	1	0	0	0	0	1	0	0	0	6418	1087	38	1	131	1	GIF	11	59599213	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	2511462	59599213	75407303	69	208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000256078.4_Missense_Mutation_p.Q61H|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.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)			31	182					0	0	1	0	0	G	25380275	T	G	25380275	3	3	3	1	0	0	0	0	1	0	0	0	8481	1606	56	3	519	3	KRAS	12	25380275	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08		25380275	108471620	70	209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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													7	437					0	0	1	0	0	T	114377796	C	T	114377796	3	4	3	1	0	0	0	0	1	0	0	0	13173	768	27	1	1015	1	RBM19	12	114377796	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	88997521	114377796	19474099	71	210											
UBC	7316	broad.mit.edu	37	chr12	125397652	125397652	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcccacctctgagacggagTaccaggtgcaaggtggactc	12	12	1	1	rs146795524		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000546120.1_Silent_p.V146V			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3.				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)		TGAGACGGAGTACCAGGTGCA	0.512													7	739					0	0	1	0	0	C	125397652	T	C	125397652	2	2	3	1	0	0	0	0	0	0	0	1	16903	1625	57	3		3	UBC	12	125397652	Silent	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	11019856	125397652	8454243	72	211											
PARP4	143	broad.mit.edu	37	chr13	25074498	25074498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctgtggcactgtccggGcatagaccttctgttttcac	9	13	3	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr13:25074498G>A	ENST00000381989.3	-	4	462	c.357C>T	c.(355-357)tgC>tgT	p.C119C		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	119					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)		CACTGTCCGGGCATAGACCTT	0.398													4	225					0	0	1	0	0	A	25074498	G	A	25074498	2	1	3	1	0	0	0	0	0	0	0	1	11510	1195	42	2		2	PARP4	13	25074498	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		25074498	90095380	73	212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535094.2_Intron|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000397024.1_Missense_Mutation_p.A15E|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000421756.1_Intron|MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000375597.4_Missense_Mutation_p.A15E|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000397030.1_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													4	86					2.56e-06	2.72516e-06	1	1	0	A	113656268	C	A	113656268	3	1	3	1	0	0	0	0	1	0	0	0	9429	783	27	4		4	MCF2L	13	113656268	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	88581770	113656268	1513610	74	213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr14:105818795_105818797delCTC	ENST00000447393.1	+	3	463_465	c.288_290delCTC	c.(286-291)ttc>tt	p.FS96del	PACS2_ENST00000458164.2_In_Frame_Del_p.FS96del|PACS2_ENST00000547217.1_Intron|PACS2_ENST00000430725.2_In_Frame_Del_p.FS29del|PACS2_ENST00000325438.8_In_Frame_Del_p.FS96del	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	96					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)	71	318	---	---	---	---						-	105818797	CTC	-	105818795	7	5	3	1	0	1	0	1	0	0	0	0	11420	912	32	0	298	0	PACS2	14	105818795	In_Frame_Del	DEL	CTC	TCGA-FB-A5VM-01A-11D-A32N-08		105818795	1530745	75	214											
SEMA4B	10509	broad.mit.edu	37	chr15	90764987	90764987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgtgtcccgcattgcccGcatctgcaaggtgaggggaa	13	11	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr15:90764987G>A	ENST00000411539.2	+	7	1111	c.851G>A	c.(850-852)cGc>cAc	p.R284H	SEMA4B_ENST00000332496.6_Missense_Mutation_p.R284H|SEMA4B_ENST00000379122.3_Missense_Mutation_p.R279H	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)			CGCATTGCCCGCATCTGCAAG	0.552											OREG0023469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	99					0	0	1	0	0	A	90764987	G	A	90764987	3	1	3	1	0	0	0	0	1	0	0	0	14086	1087	38	1	877	1	SEMA4B	15	90764987	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		90764987	11766405	76	215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556087.1_Silent_p.P115P|RGMA_ENST00000542321.2_Silent_p.P115P|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000557301.1_Silent_p.P139P|RGMA_ENST00000538818.1_Silent_p.P22P|RGMA_ENST00000556658.1_Silent_p.P22P|RGMA_ENST00000425933.2_Silent_p.P115P|RGMA_ENST00000543599.1_Silent_p.P115P	NM_020211.2	NP_064596.2	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													37	270					0	0	1	0	0	T	93595475	C	T	93595475	2	4	3	1	0	0	0	0	0	0	0	1	13332	639	23	1		1	RGMA	15	93595475	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	2830488	93595475	8935917	77	216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000416288.2_Missense_Mutation_p.G17S|FLYWCH1_ENST00000253928.9_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													4	99					0	0	1	0	0	A	2979735	G	A	2979735	3	1	3	1	0	0	0	0	1	0	0	0	5980	1116	39	1	51	1	FLYWCH1	16	2979735	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		2979735	87375018	78	217											
TAOK2	9344	broad.mit.edu	37	chr16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-													atgcctcagacaacgaggaaGaggaggaggaggaggaggaa							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)del	p.E392del	TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	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						CAACgaggaagaggaggaggagg	0.611													7	271	---	---	---	---						-	29994533	GAG	-	29994531	7	5	3	1	0	1	0	1	0	0	0	0	15605	943	33	0	1180	0	TAOK2	16	29994531	In_Frame_Del	DEL	GAG	TCGA-FB-A5VM-01A-11D-A32N-08	27014796	29994531	60360222	79	218											
SETD1A	9739	broad.mit.edu	37	chr16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-													gcagctcttccagctcctcaTcctcctcctcctcctcgtcc							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)del	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-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						CAGctcctcatcctcctcctcct	0.547													7	262	---	---	---	---						-	30982811	TCC	-	30982809	7	5	3	1	0	1	0	1	0	0	0	0	14184	1435	50	0	3173	0	SETD1A	16	30982809	In_Frame_Del	DEL	TCC	TCGA-FB-A5VM-01A-11D-A32N-08	988278	30982809	59371944	80	219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000323584.5_Missense_Mutation_p.D584N|PHKB_ENST00000566044.1_Missense_Mutation_p.D577N|PHKB_ENST00000299167.8_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													43	278					0	0	1	0	0	A	47683068	G	A	47683068	3	1	3	1	0	0	0	0	1	0	0	0	11893	1290	45	2	1879	2	PHKB	16	47683068	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	16700259	47683068	42671685	81	220											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	344					0	0	1	0	0	T	67695975	C	T	67695975	4	4	3	1	0	0	0	0	0	1	0	0	11492	644	23	1	476	1	PARD6A	16	67695975	Nonsense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	20012907	67695975	22658778	82	221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000574232.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000539421.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000317744.5_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													4	187					0	0	1	0	0	A	5984019	G	A	5984019	3	1	3	1	0	0	0	0	1	0	0	0	17466	1058	37	1	43	1	WSCD1	17	5984019	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		5984019	75211191	83	222											
TP53	7157	broad.mit.edu	37	chr17	7579585	7579585	+	Frame_Shift_Del	DEL	G	G	-													tccattgcttgggacggcaaGggggactgtagatgggtgaa					rs11575998		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:7579585delG	ENST00000420246.2	-	4	234	c.102delC	c.(100-102)ccfs	p.P34fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.P34fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P34fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P34fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	34	Interaction with HRMT1L2.|Transcription activation (acidic).		P -> 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.L35fs*9(2)|p.?(1)|p.S33fs*23(1)|p.P34fs*8(1)|p.P36fs*7(1)|p.P13fs*18(1)|p.S33fs*6(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)		GGGACGGCAAGGGGGACTGTA	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)			115	670	---	---	---	---						-	7579585	G	-	7579585	7	5	3	1	0	1	0	1	0	0	0	0	16442	987	35	0	1200	0	TP53	17	7579585	Frame_Shift_Del	DEL	G	TCGA-FB-A5VM-01A-11D-A32N-08	1595566	7579585	73615625	84	223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_004131.3	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													4	203					0	0	1	0	0	T	18138848	C	T	18138848	3	4	3	1	0	0	0	0	1	0	0	0	8874	536	19	1	1391	1	LLGL1	17	18138848	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	10559263	18138848	63056362	85	224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	135					4.22769e-11	4.68168e-11	1	1	0	A	67183986	C	A	67183986	2	1	3	1	0	0	0	0	0	0	0	1	29	813	29	2		2	ABCA10	17	67183986	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	49045138	67183986	14011224	86	225											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_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													6	231					0	0	1	0	0	A	28991322	G	A	28991322	3	1	3	1	0	0	0	0	1	0	0	0	4805	1087	38	1	2445	1	DSG4	18	28991322	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		28991322	49085926	87	226											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	111					0	0	1	0	0	A	33289706	G	A	33289706	3	1	3	1	0	0	0	0	1	0	0	0	6247	1058	37	1	1694	1	GALNT1	18	33289706	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	4298384	33289706	44787542	88	227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	442					0	0	1	0	0	T	10071228	C	T	10071228	2	4	3	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	89	228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000160740.3_Missense_Mutation_p.Y1495C|CIC_ENST00000575354.2_Missense_Mutation_p.Y1497C			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								44	396					0	0	1	0	0	G	42799006	A	G	42799006	3	3	3	1	0	0	0	0	1	0	0	0	3446	449	16	3	4568	3	CIC	19	42799006	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	32727778	42799006	16329977	90	229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	172					0	0	1	0	0	C	44280710	G	C	44280710	3	2	3	1	0	0	0	0	1	0	0	0	8125	1290	45	5	1073	5	KCNN4	19	44280710	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	1481704	44280710	14848273	91	230											
MED25	81857	broad.mit.edu	37	chr19	50333177	50333177	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccaggacccgaggcacatGgtgctggttcggggactcgt	16	11	0	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:50333177G>T	ENST00000312865.6	+	6	713	c.660G>T	c.(658-660)atG>atT	p.M220I	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	220	Interaction with the Mediator complex.|Pro-rich.				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)		CGAGGCACATGGTGCTGGTTC	0.662													4	227					1	1	1	1	0	T	50333177	G	T	50333177	3	4	3	1	0	0	0	0	1	0	0	0	9493	1348	47	2	682	2	MED25	19	50333177	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	6052467	50333177	8795806	92	231											
LILRB5	0	broad.mit.edu	37	chr19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgtggtgggggtggggAggcctgggggcctggagagg	26	5	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					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)		GGGGGTGGGGAGGCCTGGGGG	0.607													9	180					0	0	1	0	0	G	54754843	A	G	54754843	3	3	3	1	0	0	0	0	1	0	0	0	8834	319	11	3		3	LILRB5	19	54754843	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	4421666	54754843	4374140	93	232											
LILRB5	0	broad.mit.edu	37	chr19	54754946	54754946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattccccagacagtggggaGggaggagaggccatttctct	14	9	1	2	rs146755009	by1000genomes	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:54754946G>A	ENST00000450632.1	-	13	1766	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P	LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	570					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)		ACAGTGGGGAGGGAGGAGAGG	0.577													7	137					0	0	1	0	0	A	54754946	G	A	54754946	2	1	3	1	0	0	0	0	0	0	0	1	8834	1015	35	2		2	LILRB5	19	54754946	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	103	54754946	4374037	94	233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)cac>TAAcac	p.405_406ins*	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_In_Frame_Ins_p.405_406ins*	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	405					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													22	315	---	---	---	---						TAA	57089014	-	TAA	57089013	7	5	3	1	0	1	1	0	0	0	0	0	17986	1841	64	0	1230	0	ZNF470	19	57089013	In_Frame_Ins	INS	-	TCGA-FB-A5VM-01A-11D-A32N-08	2334067	57089013	2039970	95	234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	334					2.2171e-23	2.55819e-23	1	1	0	T	55012332	G	T	55012332	3	4	3	1	0	0	0	0	1	0	0	0	2701	1261	44	2	155	2	CASS4	20	55012332	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		55012332	8013188	96	235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371173.3_Missense_Mutation_p.N270H|ZBP1_ENST00000395822.3_Missense_Mutation_p.N195H|ZBP1_ENST00000343535.4_Missense_Mutation_p.N270H			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													10	93					0	0	1	0	0	G	56186849	T	G	56186849	3	3	3	1	0	0	0	0	1	0	0	0	17580	1812	63	3	493	3	ZBP1	20	56186849	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	1174517	56186849	6838671	97	236											
YTHDF1	54915	broad.mit.edu	37	chr20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-													cagcctcaccttgcgcaccaCctcctcctcctcctggcgct							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gtg>g	p.EV547del	YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557													9	545	---	---	---	---						-	61833652	CCT	-	61833650	7	5	3	1	0	1	0	1	0	0	0	0	17558	507	18	0	45	0	YTHDF1	20	61833650	In_Frame_Del	DEL	CCT	TCGA-FB-A5VM-01A-11D-A32N-08	5646801	61833650	1191870	98	237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397898.3_Silent_p.Q56Q|SUMO3_ENST00000397893.3_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													21	162					0	0	1	0	0	T	46229016	C	T	46229016	2	4	3	1	0	0	0	0	0	0	0	1	15445	912	32	2		2	SUMO3	21	46229016	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08		46229016	1900879	99	238											
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-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr22:19365576C>T	ENST00000263208.5	-	14	1685	c.1429G>A	c.(1429-1431)Gca>Aca	p.A477T	HIRA_ENST00000541063.1_Missense_Mutation_p.A433T|HIRA_ENST00000546308.1_Missense_Mutation_p.A433T|HIRA_ENST00000340170.4_Missense_Mutation_p.A477T	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													5	392					0	0	1	0	0	T	19365576	C	T	19365576	3	4	3	1	0	0	0	0	1	0	0	0	7161	739	26	2	1672	2	HIRA	22	19365576	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08		19365576	31938990	100	239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000335727.8_Silent_p.P872P|TNRC6B_ENST00000402203.1_Intron|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													18	110					0	0	1	0	0	T	40662850	C	T	40662850	2	4	3	1	0	0	0	0	0	0	0	1	16401	581	21	2		2	TNRC6B	22	40662850	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	21297274	40662850	10641716	101	240											
MKL1	57591	broad.mit.edu	37	chr22	40807694	40807694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaaaggggctctggcccGtcatgcccactggtcagcag	15	12	3	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr22:40807694G>A	ENST00000355630.3	-	15	3086	c.2496C>T	c.(2494-2496)gaC>gaT	p.D832D	MKL1_ENST00000407029.1_Silent_p.D832D|MKL1_ENST00000402042.1_Silent_p.D782D|MKL1_ENST00000396617.3_3'UTR	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	832					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						GCTCTGGCCCGTCATGCCCAC	0.657			T	RBM15	acute megakaryocytic leukemia								4	238					0	0	1	0	0	A	40807694	G	A	40807694	2	1	3	1	0	0	0	0	0	0	0	1	9649	1136	40	1		1	MKL1	22	40807694	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	144844	40807694	10496872	102	241											
FAM47A	158724	broad.mit.edu	37	chrX	34148174	34148174	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccttgcttagaatgaaaTccttaaaggcaattggtcca	8	9	0	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:34148174T>C	ENST00000346193.3	-	1	2273	c.2222A>G	c.(2221-2223)gAt>gGt	p.D741G		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	741										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						TAGAATGAAATCCTTAAAGGC	0.423													4	221					0	0	1	0	0	C	34148174	T	C	34148174	3	2	3	1	0	0	0	0	1	0	0	0	5605	1435	50	3	157	3	FAM47A	23	34148174	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08		34148174	121122386	103	242											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_694984.4	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													25	63					0	0	1	0	0	A	79932804	G	A	79932804	2	1	3	1	0	0	0	0	0	0	0	1	1528	1280	45	2		2	BRWD3	23	79932804	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	45784630	79932804	75337756	104	243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000263519.4_Silent_p.S125S|ATP2B3_ENST00000393842.1_Silent_p.S125S|ATP2B3_ENST00000370181.2_Silent_p.S125S|ATP2B3_ENST00000349466.2_Silent_p.S125S|ATP2B3_ENST00000359149.3_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													35	89					3.62531e-18	4.12535e-18	1	1	0	T	152806983	G	T	152806983	2	4	3	1	0	0	0	0	0	0	0	1	1140	1132	40	4		4	ATP2B3	23	152806983	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	72874179	152806983	2463577	105	244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:9011554G>A	ENST00000319474.2	+	3	356	c.332G>A	c.(331-333)aGg>aAg	p.R111K	CA6_ENST00000377442.2_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377443.2_Intron|CA6_ENST00000377436.3_Intron			P23280	CAH6_HUMAN	carbonic anhydrase VI	109					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													24	115					0	0	1	0	0	A	9011554	G	A	9011554	3	1	4	1	0	0	0	0	1	0	0	0	2539	1015	35	2		2	CA6	1	9011554	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		9011554	240239067	1	245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525897.1_Missense_Mutation_p.L262F|RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000397631.3_3'UTR|MANEAL_ENST00000329006.5_Missense_Mutation_p.L234F	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													29	213					0	0	1	0	0	T	38265867	C	T	38265867	3	4	4	1	0	0	0	0	1	0	0	0	9272	797	28	2	1380	2	MANEAL	1	38265867	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	29254313	38265867	210984754	2	246											
PIAS3	10401	broad.mit.edu	37	chr1	145578278	145578278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctctcccttctctctttgCcccctggcacctctcctgta	4	19	4	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:145578278C>T	ENST00000393045.2	+	2	331	c.241C>T	c.(241-243)Ccc>Tcc	p.P81S	PIAS3_ENST00000369298.1_Missense_Mutation_p.P81S|PIAS3_ENST00000369299.3_Missense_Mutation_p.P72S	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	81	Pro-rich.				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)					TCTCTCTTTGCCCCCTGGCAC	0.622													7	854					0	0	1	0	0	T	145578278	C	T	145578278	3	4	4	1	0	0	0	0	1	0	0	0	11925	739	26	2	247	2	PIAS3	1	145578278	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	107312411	145578278	103672343	3	247											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													127	460					0	0	1	0	0	T	150528719	C	T	150528719	3	4	4	1	0	0	0	0	1	0	0	0	276	884	31	1	1479	1	ADAMTSL4	1	150528719	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	4950441	150528719	98721902	4	248											
TCHH	7062	broad.mit.edu	37	chr1	152082391	152082393	+	In_Frame_Del	DEL	CTC	CTC	-													tctcccgctcctggcgccttCtcttctccggttcctctctc							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:152082391_152082393delCTC	ENST00000368804.1	-	2	3299_3301	c.3300_3302delGAG	c.(3298-3303)aaa>aa	p.KR1100del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1100	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)			CTGGCGCCTTCTCTTCTCCGGTT	0.611													7	679	---	---	---	---						-	152082393	CTC	-	152082391	7	5	4	1	0	1	0	1	0	0	0	0	15760	913	32	0	2533	0	TCHH	1	152082391	In_Frame_Del	DEL	CTC	TCGA-FB-A78T-01A-12D-A32N-08	1553672	152082391	97168230	5	249											
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-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:160098496A>G	ENST00000361216.3	+	9	1161	c.1072A>G	c.(1072-1074)Aac>Gac	p.N358D	ATP1A2_ENST00000472488.1_3'UTR|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													5	356					0	0	1	0	0	G	160098496	A	G	160098496	3	3	4	1	0	0	0	0	1	0	0	0	1128	246	9	3	1106	3	ATP1A2	1	160098496	Missense_Mutation	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08	8016105	160098496	89152125	6	250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000458541.2_Missense_Mutation_p.F241Y|CR2_ENST00000367059.3_Missense_Mutation_p.F241Y|CR2_ENST00000485707.1_3'UTR|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													14	235					0	0	1	0	0	A	207642232	T	A	207642232	3	1	4	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	47543736	207642232	41608389	7	251											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422127.1_Missense_Mutation_p.V3609M|OBSCN_ENST00000366709.4_Missense_Mutation_p.V728M|OBSCN_ENST00000359599.6_Missense_Mutation_p.V2456M|OBSCN_ENST00000366707.4_Missense_Mutation_p.V728M|OBSCN_ENST00000284548.11_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													115	374					0	0	1	0	0	A	228480445	G	A	228480445	3	1	4	1	0	0	0	0	1	0	0	0	10860	1145	40	1	10979	1	OBSCN	1	228480445	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	20838213	228480445	20770176	8	252											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404666.2_Missense_Mutation_p.F55L|VSNL1_ENST00000295156.4_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													50	325					3.76525e-18	4.13387e-18	1	1	0	A	17830679	C	A	17830679	3	1	4	1	0	0	0	0	1	0	0	0	17287	912	32	2	171	2	VSNL1	2	17830679	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08		17830679	225368694	9	253											
OTX1	5013	broad.mit.edu	37	chr2	63283259	63283261	+	In_Frame_Del	DEL	CCA	CCA	-													ccgttgagccagtcctcaggCcaccaccaccaccatcacca							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:63283259_63283261delCCA	ENST00000366671.3	+	5	1149_1151	c.873_875delCCA	c.(871-876)ggc>gg	p.GH291del	OTX1_ENST00000282549.2_In_Frame_Del_p.GH291del	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	291	His-rich.					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)					AGTCCTCAGGccaccaccaccac	0.64													8	412	---	---	---	---						-	63283261	CCA	-	63283259	7	5	4	1	0	1	0	1	0	0	0	0	11367	726	26	0	883	0	OTX1	2	63283259	In_Frame_Del	DEL	CCA	TCGA-FB-A78T-01A-12D-A32N-08	45452580	63283259	179916114	10	254											
SLC4A5	57835	broad.mit.edu	37	chr2	74531703	74531703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgtggctggtctggccGcaggccccagtggacttttt	14	12	1	0	rs139302343		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:74531703G>A	ENST00000394019.2	-	7	581	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	SLC4A5_ENST00000377632.1_Missense_Mutation_p.R62W|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R62W|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R62W|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000359484.4_Intron|SLC4A5_ENST00000483195.1_Intron|SLC4A5_ENST00000358683.4_Intron|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R62W|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R62W	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	62						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						TGGTCTGGCCGCAGGCCCCAG	0.562													5	446					0	0	1	0	0	A	74531703	G	A	74531703	3	1	4	1	0	0	0	0	1	0	0	0	14712	1086	38	1	3329	1	SLC4A5	2	74531703	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	11248444	74531703	168667670	11	255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	258					0	0	1	0	0	A	97033078	G	A	97033078	2	1	4	1	0	0	0	0	0	0	0	1	10256	1277	45	2		2	NCAPH	2	97033078	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	22501375	97033078	146166295	12	256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	52					2.79863e-10	2.96882e-10	1	1	0	T	98377121	G	T	98377121	3	4	4	1	0	0	0	0	1	0	0	0	16104	1368	48	2	624	2	TMEM131	2	98377121	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	1344043	98377121	144822252	13	257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	118					0	0	1	0	0	A	113089550	G	A	113089550	3	1	4	1	0	0	0	0	1	0	0	0	17630	1116	39	1	3101	1	ZC3H6	2	113089550	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	14712429	113089550	130109823	14	258											
RBM43	375287	broad.mit.edu	37	chr2	152112048	152112048	+	Splice_Site	DEL	T	T	-													aaatttgacttggaaataccTtttttttctttgaatattac							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:152112048delT	ENST00000331426.5	-	2	364	c.214_splice	c.e2+1	p.K71_splice		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	71	RRM.						nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TGGAAATACCTTTTTTTTCTT	0.289													7	364	---	---	---	---						-	152112048	T	-	152112048	8	5	4	1	0	1	0	1	0	0	1	0	13189	1623	56	0	872	0	RBM43	2	152112048	Splice_Site	DEL	T	TCGA-FB-A78T-01A-12D-A32N-08	39022498	152112048	91087325	15	259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000460472.2_Missense_Mutation_p.H19347Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H25844Q|TTN_ENST00000359218.5_Missense_Mutation_p.H19472Q|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H19539Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H26771Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_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													4	146					0	0	1	0	0	C	179425623	A	C	179425623	3	2	4	1	0	0	0	0	1	0	0	0	16797	446	16	3	22891	3	TTN	2	179425623	Missense_Mutation	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08	27313575	179425623	63773750	16	260											
COL5A2	1290	broad.mit.edu	37	chr2	189929785	189929785	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgattgccaggagcacccTacaaatgaccaaaatgtgat	8	11	0	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:189929785T>C	ENST00000374866.3	-	24	1838		c.e24-2			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)			AGGAGCACCCTACAAATGACC	0.408													3	84					0	0	1	0	0	C	189929785	T	C	189929785	5	2	4	1	0	0	0	0	0	0	1	0	3720	1536	53	3	3061	3	COL5A2	2	189929785	Splice_Site	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	10504162	189929785	53269588	17	261											
ANKAR	150709	broad.mit.edu	37	chr2	190541400	190541400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgccaaagaggatgtgCgctctcaagtagacctccca	10	12	2	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:190541400C>T	ENST00000520309.1	+	2	272	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	ANKAR_ENST00000313581.4_Missense_Mutation_p.R62C|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000438402.2_Missense_Mutation_p.R62C|ANKAR_ENST00000431575.2_5'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	62						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)			AGAGGATGTGCGCTCTCAAGT	0.433													5	362					0	0	1	0	0	T	190541400	C	T	190541400	3	4	4	1	0	0	0	0	1	0	0	0	619	768	27	1	186	1	ANKAR	2	190541400	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	611615	190541400	52657973	18	262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000419504.1_Missense_Mutation_p.R1185W|TNS1_ENST00000430930.1_Missense_Mutation_p.R1177W	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													7	418					0	0	1	0	0	A	218683151	G	A	218683151	3	1	4	1	0	0	0	0	1	0	0	0	16403	1086	38	1	1655	1	TNS1	2	218683151	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	28141751	218683151	24516222	19	263											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	577					0	0	1	0	0	A	219507561	G	A	219507561	2	1	4	1	0	0	0	0	0	0	0	1	17789	1190	42	2		2	ZNF142	2	219507561	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	824410	219507561	23691812	20	264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	128					0	0	1	0	0	T	21706481	C	T	21706481	3	4	4	1	0	0	0	0	1	0	0	0	17935	536	19	1	1153	1	ZNF385D	3	21706481	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08		21706481	176315949	21	265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													146	506					0	0	1	0	0	T	119132851	C	T	119132851	3	4	4	1	0	0	0	0	1	0	0	0	877	623	22	2	2121	2	ARHGAP31	3	119132851	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	97426370	119132851	78889579	22	266											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360356.2_Missense_Mutation_p.A286S|PARP9_ENST00000477522.2_Missense_Mutation_p.A251S|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.A251S	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													150	425					3.37516e-54	3.86789e-54	1	1	0	A	122274267	C	A	122274267	3	1	4	1	0	0	0	0	1	0	0	0	11513	710	25	2	1793	2	PARP9	3	122274267	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	3141416	122274267	75748163	23	267											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			80	277					0	0	1	0	0	A	140282022	G	A	140282022	3	1	4	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	18007755	140282022	57740408	24	268											
VEPH1	79674	broad.mit.edu	37	chr3	157081226	157081227	+	Frame_Shift_Ins	INS	-	-	T													atgctttcactttgctgaggINStttttttttaagtgcaagta							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:157081226_157081227insT	ENST00000362010.2	-	9	1968_1969	c.1661_1662insA	c.(1660-1662)actfs	p.T554fs	VEPH1_ENST00000392832.2_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000392833.2_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000543418.1_Frame_Shift_Ins_p.T554fs|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	554						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)			CTTTGCTGAGGTTTTTTTTTAA	0.396													13	552	---	---	---	---						T	157081227	-	T	157081226	7	5	4	1	0	1	1	0	0	0	0	0	17214	1252	44	0	863	0	VEPH1	3	157081226	Frame_Shift_Ins	INS	-	TCGA-FB-A78T-01A-12D-A32N-08	16799204	157081226	40941204	25	269											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	334					0	0	1	0	0	G	183911015	A	G	183911015	3	3	4	1	0	0	0	0	1	0	0	0	67	449	16	3	1950	3	ABCF3	3	183911015	Missense_Mutation	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08	26829789	183911015	14111415	26	270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	317					0	0	1	0	0	A	14369548	G	A	14369548	2	1	4	1	0	0	0	0	0	0	0	1	16613	1103	39	1		1	TRIO	5	14369548	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		14369548	166545712	27	271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508526.1_Intron|POLK_ENST00000504026.1_Missense_Mutation_p.E437Q|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Missense_Mutation_p.E347Q|POLK_ENST00000352007.5_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)					19	293					0	0	1	0	0	C	74886218	G	C	74886218	3	2	4	1	0	0	0	0	1	0	0	0	12252	943	33	5	1347	5	POLK	5	74886218	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	60516670	74886218	106029042	28	272											
ERAP1	51752	broad.mit.edu	37	chr5	96139617	96139617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaagggaccatttgagggGcagaaacaccatcttcttgc	11	10	2	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:96139617G>A	ENST00000296754.3	-	2	270	c.13C>T	c.(13-15)Ccc>Tcc	p.P5S	ERAP1_ENST00000443439.2_Missense_Mutation_p.P5S	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	5					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CATTTGAGGGGCAGAAACACC	0.413													4	219					0	0	1	0	0	A	96139617	G	A	96139617	3	1	4	1	0	0	0	0	1	0	0	0	5231	1203	42	2	2917	2	ERAP1	5	96139617	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	21253399	96139617	84775643	29	273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Nonsense_Mutation_p.Y421*|PCDHA1_ENST00000394633.3_Intron|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)			TGTCCGCCTACGAGCTGGTGG	0.642													162	472					6.1199e-78	7.06488e-78	1	1	0	A	140229343	C	A	140229343	4	1	4	1	0	0	0	0	0	1	0	0	11578	547	19	4	1265	4	PCDHA9	5	140229343	Nonsense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	44089726	140229343	40685917	30	274											
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-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:140792948G>A	ENST00000398610.2	+	1	206	c.206G>A	c.(205-207)cGc>cAc	p.R69H	PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_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													6	586					0	0	1	0	0	A	140792948	G	A	140792948	3	1	4	1	0	0	0	0	1	0	0	0	11598	1087	38	1	208	1	PCDHGA10	5	140792948	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	563605	140792948	40122312	31	275											
CLTB	1212	broad.mit.edu	37	chr5	175819819	175819819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggacatgagcaccgagcGcaggcgggacacatctttgc	14	12	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:175819819G>A	ENST00000310418.4	-	6	851	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	CLTB_ENST00000345807.2_Missense_Mutation_p.R198C	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	216					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)		AGCACCGAGCGCAGGCGGGAC	0.622													5	700					0	0	1	0	0	A	175819819	G	A	175819819	3	1	4	1	0	0	0	0	1	0	0	0	3588	1087	38	1	47	1	CLTB	5	175819819	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	35026871	175819819	5095441	32	276											
BTNL8	79908	broad.mit.edu	37	chr5	180374632	180374633	+	Frame_Shift_Del	DEL	GA	GA	-													ctccaaattccagtgtaagcGagagagagaagcatgggccg							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:180374632_180374633delGA	ENST00000231229.4	+	4	1028_1029	c.794_795delGA	c.(793-795)cfs	p.R265fs	BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.R265fs	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	265						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)			CAGTGTAAGCGAGAGAGAGAAG	0.495													8	1185	---	---	---	---						-	180374633	GA	-	180374632	7	5	4	1	0	1	0	1	0	0	0	0	1570	1058	37	0	834	0	BTNL8	5	180374632	Frame_Shift_Del	DEL	GA	TCGA-FB-A78T-01A-12D-A32N-08	4554813	180374632	540628	33	277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	133					1.4374e-25	1.58924e-25	1	1	0	T	29455344	G	T	29455344	2	4	4	1	0	0	0	0	0	0	0	1	9371	1164	41	2		2	MAS1L	6	29455344	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		29455344	141659723	34	278											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagcagcagcagcagcaGcaacagcagcagcagcagca	11	14	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				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						agcagcagcagcaacagcagc	0.736													4	127					0	0	1	0	0	A	45390463	G	A	45390463	2	1	4	1	0	0	0	0	0	0	0	1	13800	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	15935119	45390463	125724604	35	279											
TDRD6	221400	broad.mit.edu	37	chr6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A													tcttaactggtataatccagINSaaaaaaaaatgataagagct					rs145334816		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:46660414_46660415insA	ENST00000544460.1	+	1	4803_4804	c.4549_4550insA	c.(4549-4551)aaafs	p.K1517fs	TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					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)			GTATAATCCAGAAAAAAAAATG	0.351													11	236	---	---	---	---						A	46660415	-	A	46660414	7	5	4	1	0	1	1	0	0	0	0	0	15793	943	33	0	4551	0	TDRD6	6	46660414	Frame_Shift_Ins	INS	-	TCGA-FB-A78T-01A-12D-A32N-08	1269951	46660414	124454653	36	280											
COL19A1	1310	broad.mit.edu	37	chr6	70637868	70637868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcgagtacgaagaaacGccaaaaaggaacggtggttt	12	6	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:70637868G>A	ENST00000322773.4	+	5	436	c.334G>A	c.(334-336)Gcc>Acc	p.A112T		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	112	TSP N-terminal.			FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358).	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.A112T(1)		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						ACGAAGAAACGCCAAAAAGGA	0.428													5	358					0	0	1	0	0	A	70637868	G	A	70637868	3	1	4	1	0	0	0	0	1	0	0	0	3699	1087	38	1	348	1	COL19A1	6	70637868	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	23977454	70637868	100477199	37	281											
CCDC129	223075	broad.mit.edu	37	chr7	31617614	31617614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaacctcagtgagtgccGccaaagagcatcgaagaaga	11	9	1	5			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr7:31617614G>A	ENST00000409210.1	+	6	644	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.A246T|CCDC129_ENST00000451887.2_Missense_Mutation_p.A272T			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	246								p.A246T(1)|p.?(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGTGAGTGCCGCCAAAGAGCA	0.488													4	92					0	0	1	0	0	A	31617614	G	A	31617614	3	1	4	1	0	0	0	0	1	0	0	0	2782	1087	38	1	762	1	CCDC129	7	31617614	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		31617614	127521049	38	282											
NPTX2	4885	broad.mit.edu	37	chr7	98254285	98254285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggtgtccctcccactccGcacaaactacctatacggca	6	17	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr7:98254285G>A	ENST00000265634.3	+	3	860	c.695G>A	c.(694-696)cGc>cAc	p.R232H		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	232	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding	p.R232H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCCACTCCGCACAAACTAC	0.597													7	890					0	0	1	0	0	A	98254285	G	A	98254285	3	1	4	1	0	0	0	0	1	0	0	0	10651	1087	38	1	705	1	NPTX2	7	98254285	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	66636671	98254285	60884378	39	283											
STAG3	10734	broad.mit.edu	37	chr7	99780444	99780444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttcaatgctgtgaaagcCgccaaaagtgacatgcaggt	10	9	1	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr7:99780444C>T	ENST00000426455.1	+	4	725	c.318C>T	c.(316-318)gcC>gcT	p.A106A	STAG3_ENST00000317296.5_Silent_p.A106A|STAG3_ENST00000394018.2_Silent_p.A106A			Q9UJ98	STAG3_HUMAN	stromal antigen 3	106					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)					CTGTGAAAGCCGCCAAAAGTG	0.458													9	905					0	0	1	0	0	T	99780444	C	T	99780444	2	4	4	1	0	0	0	0	0	0	0	1	15300	639	23	1		1	STAG3	7	99780444	Silent	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	1526159	99780444	59358219	40	284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002649.2	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													43	156					0	0	1	0	0	T	106508903	C	T	106508903	2	4	4	1	0	0	0	0	0	0	0	1	11964	535	19	1		1	PIK3CG	7	106508903	Silent	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	6728459	106508903	52629760	41	285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	331					0	0	1	0	0	T	138738203	C	T	138738203	3	4	4	1	0	0	0	0	1	0	0	0	17634	661	23	1	273	1	ZC3HAV1	7	138738203	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	32229300	138738203	20400460	42	286											
TERF1	7013	broad.mit.edu	37	chr8	73921284	73921286	+	In_Frame_Del	DEL	GAG	GAG	-													aggtgcaggtgggggcccccGaggaggaggaggaggaggag							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:73921284_73921286delGAG	ENST00000276602.6	+	1	186_188	c.163_165delGAG	c.(163-165)del	p.E62del	TERF1_ENST00000276603.5_In_Frame_Del_p.E62del	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	62	Asp/Glu-rich (acidic).|Poly-Glu.|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)			GGGGGCCCCCgaggaggaggagg	0.65													9	113	---	---	---	---						-	73921286	GAG	-	73921284	7	5	4	1	0	1	0	1	0	0	0	0	15820	1059	37	0	165	0	TERF1	8	73921284	In_Frame_Del	DEL	GAG	TCGA-FB-A78T-01A-12D-A32N-08		73921284	72442738	43	287											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449720.2_Missense_Mutation_p.Q112R|KIAA1432_ENST00000251879.6_Missense_Mutation_p.Q191R|KIAA1432_ENST00000418622.3_Missense_Mutation_p.Q112R|KIAA1432_ENST00000381532.2_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													124	397					0	0	1	0	0	G	5720313	A	G	5720313	3	3	4	1	0	0	0	0	1	0	0	0	8275	188	7	3	349	3	KIAA1432	9	5720313	Missense_Mutation	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08		5720313	135493118	44	288											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	821					0	0	1	0	0	A	35853151	T	A	35853151	3	1	4	1	0	0	0	0	1	0	0	0	16275	1580	55	5	1204	5	TMEM8B	9	35853151	Missense_Mutation	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	30132838	35853151	105360280	45	289											
FAM129B	64855	broad.mit.edu	37	chr9	130271259	130271259	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtagcctcgggtctacctccCgcatgtggatctgggctcgc	13	14	2	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:130271259C>A	ENST00000373312.3	-	10	1526	c.1313G>T	c.(1312-1314)cGg>cTg	p.R438L	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.R425L	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	438							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GTCTACCTCCCGCATGTGGAT	0.642													8	207					6.5536e-12	7.04736e-12	1	1	0	A	130271259	C	A	130271259	3	1	4	1	0	0	0	0	1	0	0	0	5468	652	23	4	947	4	FAM129B	9	130271259	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	94418108	130271259	10942172	46	290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.V410L	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													8	176					6.5536e-12	7.04736e-12	1	1	0	A	130271305	C	A	130271305	3	1	4	1	0	0	0	0	1	0	0	0	5468	478	17	2	993	2	FAM129B	9	130271305	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	46	130271305	10942126	47	291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	471					0	0	1	0	0	C	17949700	G	C	17949700	3	2	4	1	0	0	0	0	1	0	0	0	9806	1377	48	5	4174	5	MRC1L1	10	17949700	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		17949700	117585047	48	292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	146					0	0	1	0	0	C	117061456	G	C	117061456	3	2	4	1	0	0	0	0	1	0	0	0	1205	1377	48	5	2787	5	ATRNL1	10	117061456	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	99111756	117061456	18473291	49	293											
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-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	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													6	865					0	0	1	0	0	A	129906577	G	A	129906577	3	1	4	1	0	0	0	0	1	0	0	0	9646	1145	40	1	6255	1	MKI67	10	129906577	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	12845121	129906577	5628170	50	294											
LRRC27	80313	broad.mit.edu	37	chr10	134165159	134165159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacccgacctcttgtcaccGtaccaaatggcgatccgagc	8	15	2	0	rs147065829		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr10:134165159G>A	ENST00000392638.2	+	8	1265	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	LRRC27_ENST00000368610.3_Silent_p.P263P|LRRC27_ENST00000368614.3_Silent_p.P325P|LRRC27_ENST00000344079.5_Missense_Mutation_p.R357H|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368613.4_Silent_p.P325P|LRRC27_ENST00000368612.1_Silent_p.P263P|LRRC27_ENST00000432555.2_Silent_p.P198P|LRRC27_ENST00000368615.3_Silent_p.P325P			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)		TCTTGTCACCGTACCAAATGG	0.527													7	715					0	0	1	0	0	A	134165159	G	A	134165159	3	1	4	1	0	0	0	0	1	0	0	0	9026	1145	40	1	1096	1	LRRC27	10	134165159	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	4258582	134165159	1369588	51	295											
OR52B6	340980	broad.mit.edu	37	chr11	5602864	5602864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctttctcaagatgcccGctccaaggccctgagtacct	7	17	1	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:5602864G>A	ENST00000345043.2	+	1	758	c.758G>A	c.(757-759)cGc>cAc	p.R253H	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	253					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)		CAAGATGCCCGCTCCAAGGCC	0.507													6	595					0	0	1	0	0	A	5602864	G	A	5602864	3	1	4	1	0	0	0	0	1	0	0	0	11161	1087	38	1	760	1	OR52B6	11	5602864	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		5602864	129403652	52	296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396393.1_Missense_Mutation_p.R89H|PSMA1_ENST00000396394.2_Missense_Mutation_p.R89H|PSMA1_ENST00000419365.2_Missense_Mutation_p.R89H|PSMA1_ENST00000555531.1_Missense_Mutation_p.R89H|PSMA1_ENST00000418988.2_Missense_Mutation_p.R95H			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													7	78					0	0	1	0	0	T	14536026	C	T	14536026	3	4	4	1	0	0	0	0	1	0	0	0	12715	536	19	1	599	1	PSMA1	11	14536026	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	8933162	14536026	120470490	53	297											
NAV2	89797	broad.mit.edu	37	chr11	19901515	19901515	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaagcagcacctctcctcAcctctgccgcccgccgtatc	7	20	3	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:19901515A>C	ENST00000396085.1	+	5	973	c.612A>C	c.(610-612)tcA>tcC	p.S204S	NAV2_ENST00000349880.4_Silent_p.S204S|NAV2_ENST00000360655.4_Silent_p.S140S|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000540292.1_Silent_p.S135S|NAV2_ENST00000396087.3_Silent_p.S204S|NAV2_ENST00000527559.2_Silent_p.S133S	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	204	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						aCCTCTCCTCACCTCTGCCGC	0.652													24	98					0	0	1	0	0	C	19901515	A	C	19901515	2	2	4	1	0	0	0	0	0	0	0	1	10232	146	6	3		3	NAV2	11	19901515	Silent	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08	5365489	19901515	115105001	54	298											
HIPK3	10114	broad.mit.edu	37	chr11	33370277	33370277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcaaaccatcattattgCcgactccccgagtcctgcag	9	15	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:33370277C>T	ENST00000303296.4	+	13	2884	c.2579C>T	c.(2578-2580)gCc>gTc	p.A860V	HIPK3_ENST00000456517.1_Missense_Mutation_p.A839V|HIPK3_ENST00000525975.1_Missense_Mutation_p.A839V|HIPK3_ENST00000379016.3_Missense_Mutation_p.A839V	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	860	Interaction with AR (By similarity).|Interaction with FAS (By similarity).|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						ATCATTATTGCCGACTCCCCG	0.468													5	305					0	0	1	0	0	T	33370277	C	T	33370277	3	4	4	1	0	0	0	0	1	0	0	0	7159	739	26	2	2625	2	HIPK3	11	33370277	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	13468762	33370277	101636239	55	299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481889.2_5'UTR|NR1H3_ENST00000405576.1_5'UTR|NR1H3_ENST00000395397.3_5'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.A17V|NR1H3_ENST00000407404.1_Missense_Mutation_p.A17V|NR1H3_ENST00000441012.2_Missense_Mutation_p.A17V|NR1H3_ENST00000529540.1_3'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)	5	268					0	0	1	0	0	T	47281348	C	T	47281348	3	4	4	1	0	0	0	0	1	0	0	0	10666	768	27	1	56	1	NR1H3	11	47281348	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	13911071	47281348	87725168	56	300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	142					0	0	1	0	0	T	66188745	C	T	66188745	3	4	4	1	0	0	0	0	1	0	0	0	10612	768	27	1	97	1	NPAS4	11	66188745	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	18907397	66188745	68817771	57	301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429686.1_Silent_p.V803V|ARAP1_ENST00000334211.8_Silent_p.V864V|ARAP1_ENST00000426523.1_Silent_p.V864V|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Silent_p.V869V|ARAP1_ENST00000455638.2_Silent_p.V1109V|ARAP1_ENST00000393609.3_Silent_p.V1109V			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													7	91					0	0	1	0	0	G	72406856	C	G	72406856	2	3	4	1	0	0	0	0	0	0	0	1	835	465	17	5		5	ARAP1	11	72406856	Silent	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	6218111	72406856	62599660	58	302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528974.1_Missense_Mutation_p.G46E|CASP1_ENST00000527979.1_Missense_Mutation_p.G69E|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.G85E|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.G85E|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.G85E|CASP1_ENST00000598974.1_Missense_Mutation_p.G85E|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Missense_Mutation_p.G85E|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000531166.1_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													6	361					0	0	1	0	0	T	104904955	C	T	104904955	3	4	4	1	0	0	0	0	1	0	0	0	2686	623	22	2	992	2	CASP1	11	104904955	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	32498099	104904955	30101561	59	303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				5	308					1.024e-07	1.06469e-07	1	1	0	A	119145571	C	A	119145571	3	1	4	1	0	0	0	0	1	0	0	0	2718	477	17	2	795	2	CBL	11	119145571	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	14240616	119145571	15860945	60	304											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	RNA	INS	-	-	C													acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs36063533		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													13	72	---	---	---	---						C	7080213	-	C	7080212	6	5	4	0	1	1	1	0	0	0	0	0	5118	1722	60	0		0	EMG1	12	7080212	RNA	INS	-	TCGA-FB-A78T-01A-12D-A32N-08		7080212	126771683	61	305											
ETV6	2120	broad.mit.edu	37	chr12	12022879	12022879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccccgcctgaagagcacGccatgcccattgggagaata	10	14	1	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:12022879G>A	ENST00000396373.4	+	5	1259	c.985G>A	c.(985-987)Gcc>Acc	p.A329T		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	329						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)				TGAAGAGCACGCCATGCCCAT	0.572			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"								5	381					0	0	1	0	0	A	12022879	G	A	12022879	3	1	4	1	0	0	0	0	1	0	0	0	5311	1087	38	1	1003	1	ETV6	12	12022879	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	4942667	12022879	121829016	62	306											
OR10A7	121364	broad.mit.edu	37	chr12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-													ggctgtggtacccagatgtaCttcttcttcttctttggcag							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tac>ta	p.YF102del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414													8	657	---	---	---	---						-	55615116	CTT	-	55615114	7	5	4	1	0	1	0	1	0	0	0	0	10943	576	20	0	308	0	OR10A7	12	55615114	In_Frame_Del	DEL	CTT	TCGA-FB-A78T-01A-12D-A32N-08	43592235	55615114	78236781	63	307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	371					0	0	1	0	0	T	57859598	C	T	57859598	3	4	4	1	0	0	0	0	1	0	0	0	6479	759	27	1	674	1	GLI1	12	57859598	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	2244484	57859598	75992297	64	308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	121					0	0	1	0	0	C	72955964	A	C	72955964	3	2	4	1	0	0	0	0	1	0	0	0	16540	72	3	3	1703	3	TRHDE	12	72955964	Missense_Mutation	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08	15096366	72955964	60895931	65	309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	219					0	0	1	0	0	G	28136823	C	G	28136823	3	3	4	1	0	0	0	0	1	0	0	0	8907	912	32	5	1145	5	LNX2	13	28136823	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08		28136823	87033055	66	310											
TSC22D1	8848	broad.mit.edu	37	chr13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-													gttgctgttgttgttgttgtTgctgctgctgctgctgcacc					rs112613609		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)caa>ca	p.QQ507del	TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	507	Gln-rich.				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)		ttgttgttgttgctgctgctgct	0.507													7	433	---	---	---	---						-	45148708	TGC	-	45148706	7	5	4	1	0	1	0	1	0	0	0	0	16668	1812	63	0	1857	0	TSC22D1	13	45148706	In_Frame_Del	DEL	TGC	TCGA-FB-A78T-01A-12D-A32N-08	17011883	45148706	70021172	67	311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	385					0	0	1	0	0	C	100635062	G	C	100635062	2	2	4	1	0	0	0	0	0	0	0	1	17737	1190	42	5		5	ZIC2	13	100635062	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	55486356	100635062	14534816	68	312											
MMP14	4323	broad.mit.edu	37	chr14	23312996	23312996	+	Frame_Shift_Del	DEL	A	A	-													cttctgttcctgataaacccAaaaaccccacctatgggccc							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr14:23312996delA	ENST00000311852.6	+	6	1189	c.928delA	c.(928-930)aafs	p.K310fs	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	310						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)		TGATAAACCCAAAAACCCCAC	0.577													8	636	---	---	---	---						-	23312996	A	-	23312996	7	5	4	1	0	1	0	1	0	0	0	0	9701	131	5	0	950	0	MMP14	14	23312996	Frame_Shift_Del	DEL	A	TCGA-FB-A78T-01A-12D-A32N-08		23312996	84036544	69	313											
NFATC4	4776	broad.mit.edu	37	chr14	24845882	24845882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccagccccctttcggccGcctcctcttcctgcatcccc	6	24	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr14:24845882G>A	ENST00000413692.2	+	10	2772	c.2628G>A	c.(2626-2628)ccG>ccA	p.P876P	NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000553708.1_Silent_p.P813P|NFATC4_ENST00000555590.1_Silent_p.P826P|NFATC4_ENST00000422617.3_Silent_p.P801P|NFATC4_ENST00000555393.1_Silent_p.P101P|NFATC4_ENST00000555453.1_Silent_p.P801P|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000556279.1_Silent_p.P845P|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000250373.4_Silent_p.P813P|NFATC4_ENST00000556759.1_Silent_p.P348P|NFATC4_ENST00000553879.1_Silent_p.P743P|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000424781.2_Silent_p.P826P|NFATC4_ENST00000539237.2_Silent_p.P845P|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000554344.1_Silent_p.P743P|NFATC4_ENST00000557451.1_Silent_p.P743P|NFATC4_ENST00000555167.1_Silent_p.P348P|NFATC4_ENST00000555802.1_Silent_p.P101P|NFATC4_ENST00000554661.1_Intron	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	813					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.P813P(1)|p.P876P(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)		CCTTTCGGCCGCCTCCTCTTC	0.627													8	773					0	0	1	0	0	A	24845882	G	A	24845882	2	1	4	1	0	0	0	0	0	0	0	1	10412	1074	38	1		1	NFATC4	14	24845882	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	1532886	24845882	82503658	70	314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)gatfs	p.D185fs	MBIP_ENST00000318473.7_Frame_Shift_Ins_p.D185fs|MBIP_ENST00000359527.7_Frame_Shift_Ins_p.D185fs	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													22	68	---	---	---	---						T	36783735	-	T	36783734	7	5	4	1	0	1	1	0	0	0	0	0	9399	349	13	0	503	0	MBIP	14	36783734	Frame_Shift_Ins	INS	-	TCGA-FB-A78T-01A-12D-A32N-08	11937852	36783734	70565806	71	315											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	134					0	0	1	0	0	A	61746986	G	A	61746986	3	1	4	1	0	0	0	0	1	0	0	0	16214	1087	38	1	179	1	TMEM30B	14	61746986	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	24963252	61746986	45602554	72	316											
MOAP1	64112	broad.mit.edu	37	chr14	93650517	93650517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagctctgggagatgccgGcaatcaatagcgctttccga	12	11	2	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr14:93650517G>A	ENST00000556883.1	-	2	555	c.71C>T	c.(70-72)gCc>gTc	p.A24V	MOAP1_ENST00000298894.4_Missense_Mutation_p.A24V			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	24					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ggagatgccggcaatcaatag	0.517													6	662					0	0	1	0	0	A	93650517	G	A	93650517	3	1	4	1	0	0	0	0	1	0	0	0	9729	1203	42	2	988	2	MOAP1	14	93650517	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	31903531	93650517	13699023	73	317											
SNRPN	6638	broad.mit.edu	37	chr15	25223426	25223426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggacgccaataggcatgCcgcctccgggaatgagaccc	14	13	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr15:25223426C>T	ENST00000444203.2	+	7	1697	c.658C>T	c.(658-660)Ccg>Tcg	p.P220S	SNRPN_ENST00000577565.1_Missense_Mutation_p.P216S|SNRPN_ENST00000346403.6_Missense_Mutation_p.P216S|SNRPN_ENST00000400100.1_Missense_Mutation_p.P216S|SNRPN_ENST00000390687.4_Missense_Mutation_p.P216S|SNRPN_ENST00000400098.1_Missense_Mutation_p.P216S|SNRPN_ENST00000554227.2_Missense_Mutation_p.P220S|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400097.1_Missense_Mutation_p.P216S			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	216	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)		AATAGGCATGCCGCCTCCGGG	0.562									Prader-Willi syndrome				5	505					0	0	1	0	0	T	25223426	C	T	25223426	3	4	4	1	0	0	0	0	1	0	0	0	14924	739	26	2	668	2	SNRPN	15	25223426	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08		25223426	77307966	74	318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000561069.1_Missense_Mutation_p.A523S|APBA2_ENST00000558330.1_Missense_Mutation_p.A511S|APBA2_ENST00000558259.1_Missense_Mutation_p.A523S|APBA2_ENST00000411764.1_Missense_Mutation_p.A511S			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													43	99					2.61675e-31	2.9345e-31	1	1	0	T	29397624	G	T	29397624	3	4	4	1	0	0	0	0	1	0	0	0	753	1203	42	2	1597	2	APBA2	15	29397624	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	4174198	29397624	73133768	75	319											
NARG2	79664	broad.mit.edu	37	chr15	60745782	60745782	+	Frame_Shift_Del	DEL	A	A	-													aagtacattccccttaggggAaaaaaaaagcattacatacg							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr15:60745782delA	ENST00000561114.1	-	9	1307	c.1145delT	c.(1144-1146)tcfs	p.F382fs	NARG2_ENST00000261520.4_Intron|NARG2_ENST00000439632.1_Intron	NM_001276385.1	NP_001263314.1	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	0						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						CCCTTAGGGGAAAAAAAAAGC	0.338													7	128	---	---	---	---						-	60745782	A	-	60745782	7	5	4	1	0	1	0	1	0	0	0	0	10217	261	9	0		0	NARG2	15	60745782	Frame_Shift_Del	DEL	A	TCGA-FB-A78T-01A-12D-A32N-08	31348158	60745782	41785610	76	320											
GOLGA6B	55889	broad.mit.edu	37	chr15	72954797	72954797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgctccgagagcaggaggTgcagagagtgcgggagcagg	20	7	0	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr15:72954797T>C	ENST00000421285.3	+	11	1052	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	351								p.V351A(4)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGCAGGAGGTGCAGAGAGTG	0.562													6	421					0	0	1	0	0	C	72954797	T	C	72954797	3	2	4	1	0	0	0	0	1	0	0	0	6600	1696	59	3	1094	3	GOLGA6B	15	72954797	Missense_Mutation	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	12209015	72954797	29576595	77	321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	151					0	0	1	0	0	T	75109005	C	T	75109005	2	4	4	1	0	0	0	0	0	0	0	1	8878	535	19	1		1	LMAN1L	15	75109005	Silent	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	2154208	75109005	27422387	78	322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	63					0	0	1	0	0	A	79051843	G	A	79051843	3	1	4	1	0	0	0	0	1	0	0	0	270	1116	39	1	83	1	ADAMTS7	15	79051843	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	3942838	79051843	23479549	79	323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	201					0	0	1	0	0	C	31500513	G	C	31500513	3	2	4	1	0	0	0	0	1	0	0	0	14720	1116	39	5	1565	5	SLC5A2	16	31500513	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		31500513	58854240	80	324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	343					0.0215528	0.0218309	1	1	0	T	72828136	G	T	72828136	3	4	4	1	0	0	0	0	1	0	0	0	17692	1194	42	2	2674	2	ZFHX3	16	72828136	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	41327623	72828136	17526617	81	325											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	224					0	0	1	0	0	A	72992317	G	A	72992317	2	1	4	1	0	0	0	0	0	0	0	1	17692	1074	38	1		1	ZFHX3	16	72992317	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	164181	72992317	17362436	82	326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	185					0	0	1	0	0	C	2224891	G	C	2224891	3	2	4	1	0	0	0	0	1	0	0	0	15222	1174	41	5	593	5	SRR	17	2224891	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		2224891	78970319	83	327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359597.4_Missense_Mutation_p.R248L|TP53_ENST00000455263.2_Missense_Mutation_p.R248L|TP53_ENST00000413465.2_Missense_Mutation_p.R248L|TP53_ENST00000445888.2_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)			58	137					1.07796e-43	1.22637e-43	1	1	0	A	7577538	C	A	7577538	3	1	4	1	0	0	0	0	1	0	0	0	16442	652	23	4	547	4	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	5352647	7577538	73617672	84	328											
MYO1D	4642	broad.mit.edu	37	chr17	30986329	30986329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttggttcttttgtaccGcatgcgggccagggtgcccc	13	13	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:30986329G>A	ENST00000318217.5	-	17	2453	c.2149C>T	c.(2149-2151)Cgg>Tgg	p.R717W	RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Missense_Mutation_p.R717W|MYO1D_ENST00000394649.4_Missense_Mutation_p.R629W	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	717	IQ 1.					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)			CTTTTGTACCGCATGCGGGCC	0.507											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	507					0	0	1	0	0	A	30986329	G	A	30986329	3	1	4	1	0	0	0	0	1	0	0	0	10119	1086	38	1	895	1	MYO1D	17	30986329	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	23408791	30986329	50208881	85	329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394570.2_Missense_Mutation_p.R619W|UNC45B_ENST00000378449.1_Missense_Mutation_p.R540W|UNC45B_ENST00000591048.1_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													5	570					0	0	1	0	0	T	33501285	C	T	33501285	3	4	4	1	0	0	0	0	1	0	0	0	17049	759	27	1	1911	1	UNC45B	17	33501285	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	2514956	33501285	47693925	86	330											
GRB7	2886	broad.mit.edu	37	chr17	37902199	37902199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaactctggttccacgggcGcatttcccgtgaggagagcc	12	14	1	2	rs149195822		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:37902199G>A	ENST00000309156.4	+	13	1561	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H	GRB7_ENST00000445327.2_Missense_Mutation_p.R458H|GRB7_ENST00000394204.1_Intron|GRB7_ENST00000394211.3_Missense_Mutation_p.R435H|GRB7_ENST00000394209.2_Missense_Mutation_p.R435H|GRB7_ENST00000309185.3_Intron	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	435	SH2.				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	p.R435H(1)		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)			TTCCACGGGCGCATTTCCCGT	0.622													6	828					0	0	1	0	0	A	37902199	G	A	37902199	3	1	4	1	0	0	0	0	1	0	0	0	6800	1087	38	1	1350	1	GRB7	17	37902199	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	4400914	37902199	43293011	87	331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				5	557					0	0	1	0	0	A	57093004	G	A	57093004	3	1	4	1	0	0	0	0	1	0	0	0	16572	1087	38	1	375	1	TRIM37	17	57093004	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	19190805	57093004	24102206	88	332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	119					0	0	1	0	0	A	74136135	G	A	74136135	2	1	4	1	0	0	0	0	0	0	0	1	6045	1140	40	1		1	FOXJ1	17	74136135	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	17043131	74136135	7059075	89	333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398417.2_Nonsense_Mutation_p.E520*|SMAD4_ENST00000586253.1_3'UTR|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													97	168					1.15966e-41	1.30983e-41	1	1	0	T	48604736	G	T	48604736	4	4	4	1	0	0	0	0	0	1	0	0	14814	943	33	2	1600	2	SMAD4	18	48604736	Nonsense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		48604736	29472512	90	334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													195	1412					0	0	1	0	0	A	4511842	G	A	4511842	2	1	4	1	0	0	0	0	0	0	0	1	12140	1045	37	1		1	PLIN4	19	4511842	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		4511842	54617141	91	335											
YIPF2	78992	broad.mit.edu	37	chr19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-													gctgaaggtccagaatcccgGctgctgctgctgctgctgct							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)ccg>c	p.QP74del	YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621													7	294	---	---	---	---						-	11038364	GCT	-	11038362	7	5	4	1	0	1	0	1	0	0	0	0	17538	1203	42	0	751	0	YIPF2	19	11038362	In_Frame_Del	DEL	GCT	TCGA-FB-A78T-01A-12D-A32N-08	6526520	11038362	48090621	92	336											
ZNF626	199777	broad.mit.edu	37	chr19	20807460	20807460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagtaaggttagaggagTacttaaaagctttgccacat	11	5	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:20807460T>C	ENST00000601440.1	-	4	1369	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y408C(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTTAGAGGAGTACTTAAAAGC	0.408													5	248					0	0	1	0	0	C	20807460	T	C	20807460	3	2	4	1	0	0	0	0	1	0	0	0	18107	1638	57	3	367	3	ZNF626	19	20807460	Missense_Mutation	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	9769098	20807460	38321523	93	337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	267					5.45122e-27	6.0698e-27	1	1	0	T	34832943	G	T	34832943	3	4	4	1	0	0	0	0	1	0	0	0	8212	1203	42	2	2138	2	KIAA0355	19	34832943	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	14025483	34832943	24296040	94	338											
DMKN	93099	broad.mit.edu	37	chr19	36002362	36002412	+	In_Frame_Del	DEL	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	-													tgctgccaccactgttgccaCtgctgccaccactgctgccg					rs112672248	byFrequency	TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:36002362_36002412delCTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	ENST00000339686.3	-	5	995_1045	c.819_869delCAGTGGCAGCAGCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAG	c.(817-870)agt>ag	p.SSGSSSGGSSGGSSGGSS273del	DMKN_ENST00000424570.2_In_Frame_Del_p.SSGSSSGGSSGGSSGGSS273del|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000447113.2_In_Frame_Del_p.SSGSSSGGSSGGSSGGSS273del|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000418261.1_In_Frame_Del_p.SSGSSSGGSSGGSSGGSS273del|DMKN_ENST00000451297.2_In_Frame_Del_p.SSGSSSGGSSGGSSGGSS273del|DMKN_ENST00000440396.1_In_Frame_Del_p.SSGSSSGGSSGGSSGGSS273del	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	273	Gly-rich.					extracellular region		p.S274_S290del(1)		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)			actgttgccactgctgccaccactgctgccgccactgctgccgccactgctgctgccactgctgctgccac	0.641													8	85	---	---	---	---						-	36002412	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	-	36002362	7	5	4	1	0	1	0	1	0	0	0	0	4610	565	20	0	926	0	DMKN	19	36002362	In_Frame_Del	DEL	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	TCGA-FB-A78T-01A-12D-A32N-08	1169419	36002362	23126621	95	339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000292841.5_Missense_Mutation_p.E499K|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E499K|ZNF585A_ENST00000588723.1_Intron			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													66	193					0	0	1	0	0	T	37643141	C	T	37643141	3	4	4	1	0	0	0	0	1	0	0	0	18074	893	31	1	653	1	ZNF585A	19	37643141	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	1640779	37643141	21485842	96	340											
ZNF546	339327	broad.mit.edu	37	chr19	40520557	40520557	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggaacttactcggcatcaTagaactcatactggtgagaa	9	9	2	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:40520557T>C	ENST00000347077.4	+	7	1596	c.1380T>C	c.(1378-1380)caT>caC	p.H460H	ZNF546_ENST00000600094.1_Silent_p.H434H|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	460					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)					CTCGGCATCATAGAACTCATA	0.413													70	201					0	0	1	0	0	C	40520557	T	C	40520557	2	2	4	1	0	0	0	0	0	0	0	1	18035	1403	49	3		3	ZNF546	19	40520557	Silent	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	2877416	40520557	18608426	97	341											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000595547.1_Missense_Mutation_p.A131V|KLK13_ENST00000335422.3_Missense_Mutation_p.A52V	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													7	712					0	0	1	0	0	A	51561829	G	A	51561829	3	1	4	1	0	0	0	0	1	0	0	0	8444	1203	42	2	230	2	KLK13	19	51561829	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	11041272	51561829	7567154	98	342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	329					0	0	1	0	0	A	52220299	G	A	52220299	4	1	4	1	0	0	0	0	0	1	0	0	7002	1095	38	1	898	1	HAS1	19	52220299	Nonsense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	658470	52220299	6908684	99	343											
ZNF584	201514	broad.mit.edu	37	chr19	58927191	58927191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccatgattttcaggccccGcatgttcctgcctctctggc	8	15	2	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:58927191G>A	ENST00000322834.7	+	4	645	c.274G>A	c.(274-276)Gca>Aca	p.A92T	ZNF584_ENST00000596921.1_Intron|ZNF584_ENST00000306910.4_Intron|ZNF584_ENST00000599238.1_Silent_p.P63P|ZNF584_ENST00000593920.1_Intron			Q8IVC4	ZN584_HUMAN	zinc finger protein 584	100					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)		TTCAGGCCCCGCATGTTCCTG	0.517													4	165					0	0	1	0	0	A	58927191	G	A	58927191	3	1	4	1	0	0	0	0	1	0	0	0	18073	1102	38	1		1	ZNF584	19	58927191	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	6706892	58927191	201792	100	344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	340					0	0	1	0	0	A	33345146	G	A	33345146	4	1	4	1	0	0	0	0	0	1	0	0	10280	1328	46	2	4822	2	NCOA6	20	33345146	Nonsense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		33345146	29680374	101	345											
PPP1R16B	26051	broad.mit.edu	37	chr20	37546918	37546918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagtgcctaccagtatgCgctggccaacggggatgtct	14	11	2	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr20:37546918C>T	ENST00000299824.1	+	11	1502	c.1313C>T	c.(1312-1314)gCg>gTg	p.A438V	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A396V	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	438					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	p.A438V(2)		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)				TACCAGTATGCGCTGGCCAAC	0.622													6	848					0	0	1	0	0	T	37546918	C	T	37546918	3	4	4	1	0	0	0	0	1	0	0	0	12415	768	27	1	1351	1	PPP1R16B	20	37546918	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	4201772	37546918	25478602	102	346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr20:40980846T>C	ENST00000373198.3	-	10	1875	c.1640A>G	c.(1639-1641)aAt>aGt	p.N547S	PTPRT_ENST00000373190.1_Missense_Mutation_p.N547S|PTPRT_ENST00000356100.2_Missense_Mutation_p.N547S|PTPRT_ENST00000373193.3_Missense_Mutation_p.N547S|PTPRT_ENST00000373187.1_Missense_Mutation_p.N547S|PTPRT_ENST00000373184.1_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	547	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													86	256					0	0	1	0	0	C	40980846	T	C	40980846	3	2	4	1	0	0	0	0	1	0	0	0	12864	1493	52	3	2834	3	PTPRT	20	40980846	Missense_Mutation	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	3433928	40980846	22044674	103	347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_Silent_p.P349P|TOX2_ENST00000423191.1_Silent_p.P429P|TOX2_ENST00000341197.3_Silent_p.P471P|TOX2_ENST00000372999.1_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													24	561					0	0	1	0	0	T	42695426	A	T	42695426	2	4	4	1	0	0	0	0	0	0	0	1	16439	204	8	5		5	TOX2	20	42695426	Silent	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08	1714580	42695426	20330094	104	348											
SS18L1	26039	broad.mit.edu	37	chr20	60734000	60734000	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcccccagcacggaggTcagatatgtcccgagagtcc	13	13	1	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr20:60734000T>C	ENST00000370848.4	+	1	155		c.e1+2		SS18L1_ENST00000331758.3_Intron|SS18L1_ENST00000421564.1_Intron			O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1						chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			AGCACGGAGGTCAGATATGTC	0.627			T	SSX1	synovial sarcoma								8	716					0	0	1	0	0	C	60734000	T	C	60734000	5	2	4	1	0	0	0	0	0	0	1	0	15232	1682	58	3		3	SS18L1	20	60734000	Splice_Site	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	18038574	60734000	2291520	105	349											
LAMA5	3911	broad.mit.edu	37	chr20	60889900	60889900	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatgagctctcgcacgcgGccaatgctggcggacagggc	15	13	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr20:60889900G>A	ENST00000252999.3	-	60	8217	c.8151C>T	c.(8149-8151)ggC>ggT	p.G2717G		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2717	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)	CTCGCACGCGGCCAATGCTGG	0.677													5	560					0	0	1	0	0	A	60889900	G	A	60889900	2	1	4	1	0	0	0	0	0	0	0	1	8648	1190	42	2		2	LAMA5	20	60889900	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	155900	60889900	2135620	106	350											
MED15	51586	broad.mit.edu	37	chr22	20918793	20918795	+	In_Frame_Del	DEL	CAG	CAG	-													agcagcaacagcagcagttcCagcagcagcagcaggcggcg							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr22:20918793_20918795delCAG	ENST00000263205.7	+	6	577_579	c.508_510delCAG	c.(508-510)del	p.Q174del	MED15_ENST00000406969.1_In_Frame_Del_p.Q148del|MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000541476.1_In_Frame_Del_p.Q148del|MED15_ENST00000425759.2_In_Frame_Del_p.Q63del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	174	Poly-Gln.				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)			gcagcagttccagcagcagcagc	0.616											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	140	---	---	---	---						-	20918795	CAG	-	20918793	7	5	4	1	0	1	0	1	0	0	0	0	9483	595	21	0	530	0	MED15	22	20918793	In_Frame_Del	DEL	CAG	TCGA-FB-A78T-01A-12D-A32N-08		20918793	30385773	107	351											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													150	311					0	0	1	0	0	C	26213152	G	C	26213152	3	2	4	1	0	0	0	0	1	0	0	0	9229	942	33	5	1191	5	MAGEB6	23	26213152	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		26213152	129057408	108	352											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328	byFrequency	TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		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						GGAGCCTCCCAATACTGGAGT	0.642													6	442					0	0	1	0	0	G	37028425	A	G	37028425	3	3	4	1	0	0	0	0	1	0	0	0	5607	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08	10815273	37028425	118242135	109	353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374360.3_Intron|DLG3_ENST00000194900.4_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													12	102					1.5842e-08	1.65813e-08	1	1	0	T	69672545	G	T	69672545	3	4	4	1	0	0	0	0	1	0	0	0	4584	1000	35	2	1249	2	DLG3	23	69672545	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	32644120	69672545	85598015	110	354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.E251A|STAG2_ENST00000218089.9_Missense_Mutation_p.E251A|STAG2_ENST00000371145.3_Missense_Mutation_p.E251A|STAG2_ENST00000371157.3_Missense_Mutation_p.E251A|STAG2_ENST00000354548.5_Missense_Mutation_p.E182A			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													16	287					0	0	1	0	0	C	123181288	A	C	123181288	3	2	4	1	0	0	0	0	1	0	0	0	15299	246	9	3	778	3	STAG2	23	123181288	Missense_Mutation	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08	53508743	123181288	32089272	111	355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	170					0	0	1	0	0	T	125685938	C	T	125685938	2	4	4	1	0	0	0	0	0	0	0	1	4288	755	27	1		1	DCAF12L1	23	125685938	Silent	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	2504650	125685938	29584622	112	356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	102					0	0	1	0	0	T	130222630	C	T	130222630	2	4	4	1	0	0	0	0	0	0	0	1	880	639	23	1		1	ARHGAP36	23	130222630	Silent	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	4536692	130222630	25047930	113	357											
MAGEC1	9947	broad.mit.edu	37	chrX	140994960	140994960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagggggaggactccctGtctcctcactactttcctca	8	16	4	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590							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)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)			13	1649					0	0	1	0	0	A	140994960	G	A	140994960	2	1	4	1	0	0	0	0	0	0	0	1	9230	1364	48	2		2	MAGEC1	23	140994960	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	10772330	140994960	14275600	114	358											
CATSPER4	378807	broad.mit.edu	37	chr1	26520380	26520380	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttctggattttctggaagGtgagatcctgagccctttgc	12	9	2	2			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:26520380G>A	ENST00000456354.2	+	3	526		c.e3+1			NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4						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)		TTTCTGGAAGGTGAGATCCTG	0.522													34	260					0	0	1	0	0	A	26520380	G	A	26520380	5	1	5	1	0	0	0	0	0	0	1	0	2708	1275	44	2	470	2	CATSPER4	1	26520380	Splice_Site	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08		26520380	222730241	1	359											
PDE4DIP	9659	broad.mit.edu	37	chr1	144859863	144859863	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccgctctccagctgcTgttgcagctgcagtcgcaga	11	15	1	1			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:144859863T>G	ENST00000369359.4	-	41	6667	c.6629A>C	c.(6628-6630)cAg>cCg	p.Q2210P	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q2074P|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q2074P|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1968P|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2159P			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2074					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)		CTCCAGCTGCTGTTGCAGCTG	0.597			T	PDGFRB	MPD								20	422					0	0	1	0	0	G	144859863	T	G	144859863	3	3	5	1	0	0	0	0	1	0	0	0	11690	1580	55	3	847	3	PDE4DIP	1	144859863	Missense_Mutation	SNP	T	TCGA-FB-A7DR-01A-21D-A33T-08	118339483	144859863	104390758	2	360											
CRCT1	54544	broad.mit.edu	37	chr1	152487987	152487987	+	Missense_Mutation	SNP	G	G	A													ctcctcctgctgcggctccgGcaggggctgctgcggcgact							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:152487987G>A	ENST00000368790.3	+	2	201	c.128G>A	c.(127-129)gGc>gAc	p.G43D		NM_019060.2	NP_061933.1	Q9UGL9	CRCT1_HUMAN	cysteine-rich C-terminal 1	43	Cys-rich.									lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCGGCTCCGGCAGGGGCTGC	0.726													4	77					0	0	1	0	0	A	152487987	G	A	152487987	3	1	5	1	0	0	0	0	1	0	0	0	3876	1203	42	2	130	2	CRCT1	1	152487987	Missense_Mutation	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	7628124	152487987	96762634	3	361	5	3									
CRCT1	54544	broad.mit.edu	37	chr1	152487989	152487989	+	Missense_Mutation	SNP	A	A	T													cctcctgctgcggctccggcAggggctgctgcggcgactca							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:152487989A>T	ENST00000368790.3	+	2	203	c.130A>T	c.(130-132)Agg>Tgg	p.R44W		NM_019060.2	NP_061933.1	Q9UGL9	CRCT1_HUMAN	cysteine-rich C-terminal 1	44	Cys-rich.									lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGCTCCGGCAGGGGCTGCTG	0.721													4	76					0	0	1	0	0	T	152487989	A	T	152487989	3	4	5	1	0	0	0	0	1	0	0	0	3876	179	7	5	132	5	CRCT1	1	152487989	Missense_Mutation	SNP	A	TCGA-FB-A7DR-01A-21D-A33T-08	2	152487989	96762632	4	362	5	3									
CRCT1	54544	broad.mit.edu	37	chr1	152487990	152487990	+	Missense_Mutation	SNP	G	G	C													ctcctgctgcggctccggcaGgggctgctgcggcgactcag							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:152487990G>C	ENST00000368790.3	+	2	204	c.131G>C	c.(130-132)aGg>aCg	p.R44T		NM_019060.2	NP_061933.1	Q9UGL9	CRCT1_HUMAN	cysteine-rich C-terminal 1	44	Cys-rich.									lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCTCCGGCAGGGGCTGCTGC	0.721													4	75					0	0	1	0	0	C	152487990	G	C	152487990	3	2	5	1	0	0	0	0	1	0	0	0	3876	1000	35	5	133	5	CRCT1	1	152487990	Missense_Mutation	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	1	152487990	96762631	5	363	5	3									
NTRK1	4914	broad.mit.edu	37	chr1	156845430	156845430	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggctccaaggccacatcatCgagaacccacaatacttcag	8	14	2	1			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:156845430C>T	ENST00000368196.3	+	11	1575	c.1455C>T	c.(1453-1455)atC>atT	p.I485I	NTRK1_ENST00000392302.2_Silent_p.I455I|NTRK1_ENST00000358660.3_Silent_p.I485I|NTRK1_ENST00000524377.1_Silent_p.I491I	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	491	Interaction with SQSTM1 (By similarity).				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)	GCCACATCATCGAGAACCCAC	0.577			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			26	268					0	0	1	0	0	T	156845430	C	T	156845430	2	4	5	1	0	0	0	0	0	0	0	1	10754	874	31	1		1	NTRK1	1	156845430	Silent	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08	4357440	156845430	92405191	6	364											
CD1D	912	broad.mit.edu	37	chr1	158151257	158151257	+	Frame_Shift_Del	DEL	T	T	-													tctcccagtcccgcaaaggcTtttccccctccgctgcctcc							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:158151257delT	ENST00000368171.3	+	3	573	c.74delT	c.(73-75)ctfs	p.L25fs		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	25					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)					CCGCAAAGGCTTTTCCCCCTC	0.592													7	1667	---	---	---	---						-	158151257	T	-	158151257	7	5	5	1	0	1	0	1	0	0	0	0	2999	1609	56	0	80	0	CD1D	1	158151257	Frame_Shift_Del	DEL	T	TCGA-FB-A7DR-01A-21D-A33T-08	1305827	158151257	91099364	7	365											
HSD17B7	51478	broad.mit.edu	37	chr1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctggacatcatctcgcaGtgcaaggaaatctaatttca	7	10	5	0			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:162769603G>A	ENST00000367917.3	+	5	586	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	TCATCTCGCAGTGCAAGGAAA	0.458													8	181					0	0	1	0	0	A	162769603	G	A	162769603	3	1	5	1	0	0	0	0	1	0	0	0	7429	1029	36	2	536	2	HSD17B7	1	162769603	Missense_Mutation	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	4618346	162769603	86481018	8	366											
PDC	5132	broad.mit.edu	37	chr1	186413293	186413293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttatagatgagcagtgtagGaagtacatctaaggaaaagc	11	4	1	2			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:186413293G>A	ENST00000391997.2	-	4	646	c.559C>T	c.(559-561)Cct>Tct	p.P187S	PDC_ENST00000456239.2_Missense_Mutation_p.P135S|PDC_ENST00000497198.1_Missense_Mutation_p.P135S|PDC_ENST00000340129.5_Missense_Mutation_p.P187S	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	187					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		AGCAGTGTAGGAAGTACATCT	0.388													31	329					0	0	1	0	0	A	186413293	G	A	186413293	3	1	5	1	0	0	0	0	1	0	0	0	11661	1174	41	2	185	2	PDC	1	186413293	Missense_Mutation	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	23643690	186413293	62837328	9	367											
URB2	9816	broad.mit.edu	37	chr1	229773136	229773136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgttactgtccatggccGtcaccaaactaggatgctct	9	11	2	0			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:229773136G>A	ENST00000258243.2	+	4	2912	c.2776G>A	c.(2776-2778)Gtc>Atc	p.V926I		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	926						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						GTCCATGGCCGTCACCAAACT	0.483													7	926					0	0	1	0	0	A	229773136	G	A	229773136	3	1	5	1	0	0	0	0	1	0	0	0	17085	1145	40	1	2786	1	URB2	1	229773136	Missense_Mutation	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	43359843	229773136	19477485	10	368											
OR14A16	284532	broad.mit.edu	37	chr1	247978219	247978219	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcatagtgtagaacacagaAattacagcatccaaaataga	7	7	0	3			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:247978219A>C	ENST00000357627.1	-	1	812	c.813T>G	c.(811-813)atT>atG	p.I271M		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	271					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						AGAACACAGAAATTACAGCAT	0.418													30	173					0	0	1	0	0	C	247978219	A	C	247978219	3	2	5	1	0	0	0	0	1	0	0	0	10993	10	1	3	120	3	OR14A16	1	247978219	Missense_Mutation	SNP	A	TCGA-FB-A7DR-01A-21D-A33T-08	18205083	247978219	1272402	11	369											
OR2T3	343173	broad.mit.edu	37	chr1	248636948	248636948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagatgataccatttccccGtcaggctgtgggatccagat	12	10	1	3			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:248636948G>A	ENST00000359594.2	+	1	322	c.297G>A	c.(295-297)ccG>ccA	p.P99P		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	99					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)			CCATTTCCCCGTCAGGCTGTG	0.547													27	196					0	0	1	0	0	A	248636948	G	A	248636948	2	1	5	1	0	0	0	0	0	0	0	1	11071	1132	40	1		1	OR2T3	1	248636948	Silent	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	658729	248636948	613673	12	370											
LRP1B	53353	broad.mit.edu	37	chr2	141533745	141533745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggatggtggggtttcttcCgtctcttttgctgcaggttc	13	8	2	0			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:141533745C>T	ENST00000389484.3	-	33	6393	c.5422G>A	c.(5422-5424)Gga>Aga	p.G1808R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1808					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)		GGGTTTCTTCCGTCTCTTTTG	0.388										TSP Lung(27;0.18)			20	202					0	0	1	0	0	T	141533745	C	T	141533745	3	4	5	1	0	0	0	0	1	0	0	0	9000	661	23	1	8613	1	LRP1B	2	141533745	Missense_Mutation	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08		141533745	101665628	13	371											
GIGYF2	26058	broad.mit.edu	37	chr2	233712228	233712230	+	In_Frame_Del	DEL	CAG	CAG	-													gtcagcagcagcagctgccaCagcagcagcagcagcagccg					rs72096937		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:233712228_233712230delCAG	ENST00000373566.3	+	28	3894_3896	c.3697_3699delCAG	c.(3697-3699)del	p.Q1238del	GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q1210del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1238del|GIGYF2_ENST00000409547.1_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1237del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q1216del			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1216	Gln-rich.				cell death		protein binding	p.Q1216delQ(2)|p.Q1237delQ(1)		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)		gcagctgccacagcagcagcagc	0.547													7	179	---	---	---	---						-	233712230	CAG	-	233712228	7	5	5	1	0	1	0	1	0	0	0	0	6420	479	17	0	3799	0	GIGYF2	2	233712228	In_Frame_Del	DEL	CAG	TCGA-FB-A7DR-01A-21D-A33T-08	92178483	233712228	9487145	14	372											
ANKMY1	51281	broad.mit.edu	37	chr2	241465801	241465801	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgggcccacagggtgcaaAgccactgcgcttcccctcca	10	16	0	0			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:241465801A>G	ENST00000391987.1	-	6	1114	c.748T>C	c.(748-750)Ttt>Ctt	p.F250L	ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.F250L|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.F339L|ANKMY1_ENST00000403283.1_Intron			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	250							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)		CAGGGTGCAAAGCCACTGCGC	0.532													25	213					0	0	1	0	0	G	241465801	A	G	241465801	3	3	5	1	0	0	0	0	1	0	0	0	630	72	3	3	2129	3	ANKMY1	2	241465801	Missense_Mutation	SNP	A	TCGA-FB-A7DR-01A-21D-A33T-08	7753573	241465801	1733572	15	373											
BHLHE40	8553	broad.mit.edu	37	chr3	5025216	5025216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcctcaacgcctctgccGcagccctctctagcttcatg	8	18	4	0			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:5025216G>A	ENST00000256495.3	+	5	1681	c.1078G>A	c.(1078-1080)Gca>Aca	p.A360T		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	360						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						CGCCTCTGCCGCAGCCCTCTC	0.602													5	455					0	0	1	0	0	A	5025216	G	A	5025216	3	1	5	1	0	0	0	0	1	0	0	0	1422	1087	38	1	1096	1	BHLHE40	3	5025216	Missense_Mutation	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08		5025216	192997214	16	374											
MST1	4485	broad.mit.edu	37	chr3	49724837	49724837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggctccaagcctggcaggGcaggccacccacggtcgtgg	16	14	0	0	rs41291712		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:49724837G>A	ENST00000449682.2	-	4	791	c.430C>T	c.(430-432)Ccc>Tcc	p.P144S	MST1_ENST00000383728.3_Missense_Mutation_p.P69S|MST1_ENST00000545762.1_Intron|MST1_ENST00000494828.2_5'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	130	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)		GCCTGGCAGGGCAGGCCACCC	0.587													5	330					0	0	1	0	0	A	49724837	G	A	49724837	3	1	5	1	0	0	0	0	1	0	0	0	9938	1203	42	2	1807	2	MST1	3	49724837	Missense_Mutation	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	44699621	49724837	148297593	17	375											
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-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	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													4	282					0	0	1	0	0	A	129370592	T	A	129370592	3	1	5	1	0	0	0	0	1	0	0	0	16052	1580	55	5	271	5	TMCC1	3	129370592	Missense_Mutation	SNP	T	TCGA-FB-A7DR-01A-21D-A33T-08	79645755	129370592	68651838	18	376											
ZBTB38	253461	broad.mit.edu	37	chr3	141162874	141162875	+	Frame_Shift_Ins	INS	-	-	A													atcatagactttccatcagtINSaaaaaaacagcaaatggagg							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:141162874_141162875insA	ENST00000514251.1	+	4	1923_1924	c.1644_1645insA	c.(1642-1647)agaaaafs	p.RK548fs	ZBTB38_ENST00000321464.5_Frame_Shift_Ins_p.RK549fs|ZBTB38_ENST00000441582.2_Frame_Shift_Ins_p.RK548fs			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	548					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						TTTCCATCAGTAAAAAAACAGC	0.386													38	254	---	---	---	---						A	141162875	-	A	141162874	7	5	5	1	0	1	1	0	0	0	0	0	17598	1635	57	0	1646	0	ZBTB38	3	141162874	Frame_Shift_Ins	INS	-	TCGA-FB-A7DR-01A-21D-A33T-08	11792282	141162874	56859556	19	377											
ZIC1	7545	broad.mit.edu	37	chr3	147128727	147128727	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctgcttctgggaggagtgTccgcgcgagggcaagccctt	15	11	2	0			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:147128727T>G	ENST00000282928.4	+	1	1557	c.828T>G	c.(826-828)tgT>tgG	p.C276W		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	276					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						GGGAGGAGTGTCCGCGCGAGG	0.577													36	399					0	0	1	0	0	G	147128727	T	G	147128727	3	3	5	1	0	0	0	0	1	0	0	0	17736	1673	58	3	830	3	ZIC1	3	147128727	Missense_Mutation	SNP	T	TCGA-FB-A7DR-01A-21D-A33T-08	5965853	147128727	50893703	20	378											
DNAJB11	51726	broad.mit.edu	37	chr3	186299863	186299863	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggagtacccctttattggaGaaggtgaaatattgatattt	10	4	0	3			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:186299863G>A	ENST00000439351.1	+	7	1608	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	DNAJB11_ENST00000265028.3_Missense_Mutation_p.E227K			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	227					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)		CTTTATTGGAGAAGGTGAAAT	0.388													10	109					0	0	1	0	0	A	186299863	G	A	186299863	3	1	5	1	0	0	0	0	1	0	0	0	4643	943	33	2	701	2	DNAJB11	3	186299863	Missense_Mutation	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	39171136	186299863	11722567	21	379											
KIAA0232	9778	broad.mit.edu	37	chr4	6865606	6865606	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaaagaaggccattactatgGaaaatcagagcttgagtctg	11	6	2	3			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr4:6865606G>T	ENST00000307659.5	+	7	3952	c.3497G>T	c.(3496-3498)gGa>gTa	p.G1166V	KIAA0232_ENST00000425103.1_Missense_Mutation_p.G1166V	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1166							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						CATTACTATGGAAAATCAGAG	0.413													31	220					1.74807e-11	1.92288e-11	1	1	0	T	6865606	G	T	6865606	3	4	5	1	0	0	0	0	1	0	0	0	8205	1174	41	2	3515	2	KIAA0232	4	6865606	Missense_Mutation	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08		6865606	184288670	22	380											
KIAA1211	57482	broad.mit.edu	37	chr4	57182265	57182267	+	In_Frame_Del	DEL	AGA	AGA	-													ctgcgaccaacaggcagaacAgaagaagaagaagaggcaca							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr4:57182265_57182267delAGA	ENST00000504228.1	+	6	2702_2704	c.2597_2599delAGA	c.(2596-2601)cag>c	p.QK866del	KIAA1211_ENST00000264229.6_In_Frame_Del_p.QK866del|KIAA1211_ENST00000541073.1_In_Frame_Del_p.QK859del			Q6ZU35	K1211_HUMAN	KIAA1211	866										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)					CAGGCAGAACAGAAGAAGAAGAA	0.567													7	177	---	---	---	---						-	57182267	AGA	-	57182265	7	5	5	1	0	1	0	1	0	0	0	0	8257	188	7	0	2615	0	KIAA1211	4	57182265	In_Frame_Del	DEL	AGA	TCGA-FB-A7DR-01A-21D-A33T-08	50316659	57182265	133972011	23	381											
MAML3	55534	broad.mit.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	14	12	0	0			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	494	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	0.537													5	145					0	0	1	0	0	T	140811108	C	T	140811108	2	4	5	1	0	0	0	0	0	0	0	1	9257	796	28	2		2	MAML3	4	140811108	Silent	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08	83628843	140811108	50343168	24	382											
SORBS2	8470	broad.mit.edu	37	chr4	186544439	186544439	+	Frame_Shift_Del	DEL	T	T	-													tctgtttcttaggagccgaaTtttttttcctccggaaaggc							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr4:186544439delT	ENST00000431808.1	-	14	2695	c.2132delA	c.(2131-2133)atfs	p.N711fs	SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Frame_Shift_Del_p.N615fs|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Frame_Shift_Del_p.N811fs|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Frame_Shift_Del_p.N711fs|SORBS2_ENST00000498125.1_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	711						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)		AGGAGCCGAATTTTTTTTCCT	0.448													7	691	---	---	---	---						-	186544439	T	-	186544439	7	5	5	1	0	1	0	1	0	0	0	0	14982	1493	52	0	1206	0	SORBS2	4	186544439	Frame_Shift_Del	DEL	T	TCGA-FB-A7DR-01A-21D-A33T-08	45733331	186544439	4609837	25	383											
DNAH5	1767	broad.mit.edu	37	chr5	13900350	13900350	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccttttgtatctatctcGtttctggaagagggaagttg	11	6	3	1			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr5:13900350G>A	ENST00000265104.4	-	15	2328	c.2224C>T	c.(2224-2226)Cga>Tga	p.R742*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	742	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)					TATCTATCTCGTTTCTGGAAG	0.383									Kartagener syndrome				5	236					0	0	1	0	0	A	13900350	G	A	13900350	4	1	5	1	0	0	0	0	0	1	0	0	4632	1153	40	1	11910	1	DNAH5	5	13900350	Nonsense_Mutation	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08		13900350	167014910	26	384											
NDUFAF2	91942	broad.mit.edu	37	chr5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacccctactgcgggtcccGctgctggcagcgctggaaac	12	15	0	0			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632													6	79					0	0	1	0	0	A	60241050	G	A	60241050	1	1	5	1	0	0	0	0	0	0	0	0	10322	1102	38	1		1	NDUFAF2	5	60241050	Translation_Start_Site	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	46340700	60241050	120674210	27	385											
GRIA1	0	broad.mit.edu	37	chr5	153035414	153035414	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagaatggcatcggctaccaCtacattcttgcaaatctggt	8	10	2	1			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr5:153035414C>G	ENST00000285900.5	+	5	1024	c.681C>G	c.(679-681)caC>caG	p.H227Q	GRIA1_ENST00000518783.1_Missense_Mutation_p.H237Q|GRIA1_ENST00000448073.4_Missense_Mutation_p.H237Q|GRIA1_ENST00000521843.2_Missense_Mutation_p.H158Q|GRIA1_ENST00000340592.5_Missense_Mutation_p.H227Q|GRIA1_ENST00000518142.1_Missense_Mutation_p.H147Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	227					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)	TCGGCTACCACTACATTCTTG	0.448													34	251					0	0	1	0	0	G	153035414	C	G	153035414	3	3	5	1	0	0	0	0	1	0	0	0	6808	564	20	5	699	5	GRIA1	5	153035414	Missense_Mutation	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08	92794364	153035414	27879846	28	386											
MDN1	23195	broad.mit.edu	37	chr6	90482330	90482330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attggatggtagaggttttgCcagtcccggtctctcccacc	11	12	1	1			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr6:90482330C>T	ENST00000369393.3	-	14	2160	c.2045G>A	c.(2044-2046)gGc>gAc	p.G682D	MDN1_ENST00000428876.1_Missense_Mutation_p.G682D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	682					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)		AGAGGTTTTGCCAGTCCCGGT	0.493													7	436					0	0	1	0	0	T	90482330	C	T	90482330	3	4	5	1	0	0	0	0	1	0	0	0	9465	739	26	2	15101	2	MDN1	6	90482330	Missense_Mutation	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08		90482330	80632737	29	387											
TWISTNB	221830	broad.mit.edu	37	chr7	19738111	19738113	+	In_Frame_Del	DEL	TTC	TTC	-													cctgaacttcctggtgctttTtcttcttcttctttttcttt							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:19738111_19738113delTTC	ENST00000222567.5	-	4	913_915	c.843_845delGAA	c.(841-846)aaa>aa	p.KK281del		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	281	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTGGTGCTTTTTCTTCTTCTTCT	0.433													7	1547	---	---	---	---						-	19738113	TTC	-	19738111	7	5	5	1	0	1	0	1	0	0	0	0	16846	1841	64	0	175	0	TWISTNB	7	19738111	In_Frame_Del	DEL	TTC	TCGA-FB-A7DR-01A-21D-A33T-08		19738111	139400552	30	388											
DNAH11	8701	broad.mit.edu	37	chr7	21751430	21751430	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgcaaccccggccactgtttCcagagctggtattctgtatg	10	13	1	1			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:21751430C>A	ENST00000328843.6	+	43	6987	c.6956C>A	c.(6955-6957)tCc>tAc	p.S2319Y	DNAH11_ENST00000409508.3_Missense_Mutation_p.S2312Y			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2319	AAA 2 (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						GCCACTGTTTCCAGAGCTGGT	0.448									Kartagener syndrome				25	139					3.6726e-16	4.15868e-16	1	1	0	A	21751430	C	A	21751430	3	1	5	1	0	0	0	0	1	0	0	0	4627	855	30	2	7123	2	DNAH11	7	21751430	Missense_Mutation	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08	2013319	21751430	137387233	31	389											
CAMK2B	816	broad.mit.edu	37	chr7	44282246	44282246	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cccacgagcaggatgtacagGatcacccctgcggatggggc	14	13	1	0			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:44282246G>T	ENST00000395749.2	-	9	685	c.609C>A	c.(607-609)atC>atA	p.I203I	CAMK2B_ENST00000258682.6_Silent_p.I203I|CAMK2B_ENST00000440254.2_Silent_p.I203I|CAMK2B_ENST00000347193.4_Silent_p.I203I|CAMK2B_ENST00000358707.3_Silent_p.I203I|CAMK2B_ENST00000346990.4_Silent_p.I203I|CAMK2B_ENST00000502837.2_Silent_p.I74I|CAMK2B_ENST00000395747.2_Silent_p.I203I|CAMK2B_ENST00000353625.4_Silent_p.I203I|CAMK2B_ENST00000350811.3_Silent_p.I203I|CAMK2B_ENST00000457475.1_Silent_p.I203I	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	203	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GGATGTACAGGATCACCCCTG	0.627													5	64					0.014758	0.014758	1	1	0	T	44282246	G	T	44282246	2	4	5	1	0	0	0	0	0	0	0	1	2618	1164	41	2		2	CAMK2B	7	44282246	Silent	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	22530816	44282246	114856417	32	390											
DLX5	1749	broad.mit.edu	37	chr7	96650202	96650202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttggaggtcggagggtggGcatgagggtggtggctgagc	24	4	0	2			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:96650202G>A	ENST00000222598.4	-	3	1189	c.716C>T	c.(715-717)gCc>gTc	p.A239V	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	239					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	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)					CGGAGGGTGGGCATGAGGGTG	0.642													5	265					0	0	1	0	0	A	96650202	G	A	96650202	3	1	5	1	0	0	0	0	1	0	0	0	4602	1203	42	2	157	2	DLX5	7	96650202	Missense_Mutation	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	52367956	96650202	62488461	33	391											
GPR124	25960	broad.mit.edu	37	chr8	37690642	37690642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgagcctcccgccggtgtgaCcgtgccggccgctgggagcc	16	17	0	1			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr8:37690642C>A	ENST00000315215.7	+	9	1575	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	GPR124_ENST00000412232.2_Missense_Mutation_p.D404E			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	404					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)			GCCGGTGTGACCGTGCCGGCC	0.667													50	248					1.21353e-23	1.40515e-23	1	1	0	A	37690642	C	A	37690642	3	1	5	1	0	0	0	0	1	0	0	0	6678	506	18	2	1225	2	GPR124	8	37690642	Missense_Mutation	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08		37690642	108673380	34	392											
BAI1	575	broad.mit.edu	37	chr8	143614731	143614731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggctgtgctcgccgtcacCgaccgccgctccgccctctt	10	20	2	0			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr8:143614731C>T	ENST00000517894.1	+	25	4368	c.3474C>T	c.(3472-3474)acC>acT	p.T1158T	BAI1_ENST00000323289.5_Silent_p.T1158T			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1158					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)					TCGCCGTCACCGACCGCCGCT	0.657													7	49					0	0	1	0	0	T	143614731	C	T	143614731	2	4	5	1	0	0	0	0	0	0	0	1	1296	639	23	1		1	BAI1	8	143614731	Silent	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08	105924089	143614731	2749291	35	393											
CACNA1B	774	broad.mit.edu	37	chr9	140846736	140846736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcttccagacaaacgatgCggccggcaacacctggaact	10	13	0	1			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr9:140846736C>T	ENST00000371372.1	+	7	1122	c.977C>T	c.(976-978)gCg>gTg	p.A326V	CACNA1B_ENST00000277551.2_Missense_Mutation_p.A326V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A326V|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A326V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A326V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	326					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)	ACAAACGATGCGGCCGGCAAC	0.597													4	207					0	0	1	0	0	T	140846736	C	T	140846736	3	4	5	1	0	0	0	0	1	0	0	0	2557	768	27	1	1003	1	CACNA1B	9	140846736	Missense_Mutation	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08		140846736	366695	36	394											
CALML3	810	broad.mit.edu	37	chr10	5567160	5567160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagctgggcacggtcatgCggtccctgggccagaacccc	15	15	1	1			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:5567160C>T	ENST00000315238.1	+	1	237	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	CALML3-AS1_ENST00000542093.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000545372.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	38	EF-hand 1.						calcium ion binding			endometrium(3)|lung(2)	5						CACGGTCATGCGGTCCCTGGG	0.642													4	150					0	0	1	0	0	T	5567160	C	T	5567160	3	4	5	1	0	0	0	0	1	0	0	0	2605	759	27	1	114	1	CALML3	10	5567160	Missense_Mutation	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08		5567160	129967587	37	395											
NMT2	9397	broad.mit.edu	37	chr10	15183511	15183511	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtttctccttttttctcttCtgtttcttctttttcttttt	3	9	6	0			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:15183511C>T	ENST00000378150.1	-	2	171	c.74G>A	c.(73-75)aGa>aAa	p.R25K	NMT2_ENST00000378165.4_Silent_p.Q52Q|NMT2_ENST00000540259.1_5'UTR|NMT2_ENST00000535341.1_Missense_Mutation_p.R25K			O60551	NMT2_HUMAN	N-myristoyltransferase 2	50					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						tttttctcttctgtttcttct	0.418													15	170					0	0	1	0	0	T	15183511	C	T	15183511	3	4	5	1	0	0	0	0	1	0	0	0	10551	912	32	2	1384	2	NMT2	10	15183511	Missense_Mutation	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08	9616351	15183511	120351236	38	396											
MKX	283078	broad.mit.edu	37	chr10	28024186	28024186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcactgcttacgctaagccGttcagcattgccttgaacat	7	12	2	1			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:28024186G>A	ENST00000375790.5	-	4	898	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	MKX_ENST00000419761.1_Missense_Mutation_p.R156W			Q8IYA7	MKX_HUMAN	mohawk homeobox	156					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R156W(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						ACGCTAAGCCGTTCAGCATTG	0.378													24	264					0	0	1	0	0	A	28024186	G	A	28024186	3	1	5	1	0	0	0	0	1	0	0	0	9658	1144	40	1	608	1	MKX	10	28024186	Missense_Mutation	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	12840675	28024186	107510561	39	397											
ANK3	288	broad.mit.edu	37	chr10	61831289	61831290	+	Frame_Shift_Ins	INS	-	-	T													cttacattcctgacttatgaINSttttttttacacctccttgt					rs28932171	byFrequency	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:61831289_61831290insT	ENST00000280772.1	-	37	9540_9541	c.9349_9350insA	c.(9349-9351)catfs	p.H3117fs	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3117			I -> V (in dbSNP:rs28932171).		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						CTGACTTATGATTTTTTTTACA	0.401													7	725	---	---	---	---						T	61831290	-	T	61831289	7	5	5	1	0	1	1	0	0	0	0	0	618	333	12	0	4124	0	ANK3	10	61831289	Frame_Shift_Ins	INS	-	TCGA-FB-A7DR-01A-21D-A33T-08	33807103	61831289	73703458	40	398											
RTKN2	219790	broad.mit.edu	37	chr10	63957932	63957932	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtccttaaccaattgatctGtgttactctgtgattttaag	7	7	2	2			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:63957932G>T	ENST00000373789.3	-	12	1661	c.1565C>A	c.(1564-1566)aCa>aAa	p.T522K	RTKN2_ENST00000315289.2_Intron|RTKN2_ENST00000395265.1_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	522					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)					CAATTGATCTGTGTTACTCTG	0.398													67	571					2.18329e-32	2.56661e-32	1	1	0	T	63957932	G	T	63957932	3	4	5	1	0	0	0	0	1	0	0	0	13775	1377	48	2	268	2	RTKN2	10	63957932	Missense_Mutation	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	2126643	63957932	71576815	41	399											
TYSND1	219743	broad.mit.edu	37	chr10	71903618	71903618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatggaagtgctcagcgGgcacagggatggggacatca	15	9	3	0			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:71903618G>A	ENST00000287078.6	-	2	1276	c.1277C>T	c.(1276-1278)cCc>cTc	p.P426L	TYSND1_ENST00000335494.5_Intron|TYSND1_ENST00000494143.1_5'UTR	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	426	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						GTGCTCAGCGGGCACAGGGAT	0.587													8	128					0	0	1	0	0	A	71903618	G	A	71903618	3	1	5	1	0	0	0	0	1	0	0	0	16879	1232	43	2	435	2	TYSND1	10	71903618	Missense_Mutation	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	7945686	71903618	63631129	42	400											
GFRA1	2674	broad.mit.edu	37	chr10	118030450	118030450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggcctccatggcgctgCggcactcatccttggcctcc	11	17	2	0			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:118030450C>T	ENST00000439649.3	-	3	585	c.218G>A	c.(217-219)cGc>cAc	p.R73H	GFRA1_ENST00000369236.1_Missense_Mutation_p.R73H|GFRA1_ENST00000355422.6_Missense_Mutation_p.R73H	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	73					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)		CATGGCGCTGCGGCACTCATC	0.607													4	269					0	0	1	0	0	T	118030450	C	T	118030450	3	4	5	1	0	0	0	0	1	0	0	0	6389	768	27	1	1215	1	GFRA1	10	118030450	Missense_Mutation	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08	46126832	118030450	17504297	43	401											
SLC17A6	57084	broad.mit.edu	37	chr11	22382454	22382454	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatcacagggtgtgacctaCccagcatgtcatgggatatg	11	11	2	1			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:22382454C>A	ENST00000263160.3	+	5	1022	c.585C>A	c.(583-585)taC>taA	p.Y195*		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	195					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						GTGTGACCTACCCAGCATGTC	0.502													12	114					4.3838e-07	4.75426e-07	1	1	0	A	22382454	C	A	22382454	4	1	5	1	0	0	0	0	0	1	0	0	14476	518	18	2	603	2	SLC17A6	11	22382454	Nonsense_Mutation	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08		22382454	112624062	44	402											
KCNA4	3739	broad.mit.edu	37	chr11	30034029	30034031	+	In_Frame_Del	DEL	TGG	TGG	-													aggtacaggccccgcgtgacTggtggtggtggtgggagccc							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:30034029_30034031delTGG	ENST00000328224.6	-	2	1428_1430	c.195_197delCCA	c.(193-198)cag>ca	p.HQ65del		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	65	Poly-His.					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						CCCGCGTGACTGGTGGTGGTGGT	0.66													7	383	---	---	---	---						-	30034031	TGG	-	30034029	7	5	5	1	0	1	0	1	0	0	0	0	8049	1580	55	0	1768	0	KCNA4	11	30034029	In_Frame_Del	DEL	TGG	TCGA-FB-A7DR-01A-21D-A33T-08	7651575	30034029	104972487	45	403											
CD59	966	broad.mit.edu	37	chr11	33731808	33731808	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcagcagtagtacgttAgctcattttccctcaagcgg	9	11	3	0			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:33731808A>C	ENST00000395850.3	-	4	326	c.251T>G	c.(250-252)cTa>cGa	p.L84R	CD59_ENST00000533403.1_3'UTR|CD59_ENST00000527577.1_Missense_Mutation_p.L84R|CD59_ENST00000415002.2_Missense_Mutation_p.L84R|CD59_ENST00000528700.1_Missense_Mutation_p.L84R|CD59_ENST00000437761.2_Missense_Mutation_p.L84R|CD59_ENST00000426650.2_Missense_Mutation_p.L84R|CD59_ENST00000534312.1_Missense_Mutation_p.L84R|CD59_ENST00000445143.2_Missense_Mutation_p.L84R|CD59_ENST00000351554.3_Missense_Mutation_p.L84R	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	84	UPAR/Ly6.				blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction				endometrium(1)|lung(2)	3						GTAGTACGTTAGCTCATTTTC	0.443													24	212					0	0	1	0	0	C	33731808	A	C	33731808	3	2	5	1	0	0	0	0	1	0	0	0	3048	420	15	3	139	3	CD59	11	33731808	Missense_Mutation	SNP	A	TCGA-FB-A7DR-01A-21D-A33T-08	3697779	33731808	101274708	46	404											
CHRM4	1132	broad.mit.edu	37	chr11	46407277	46407277	+	Frame_Shift_Del	DEL	C	C	-													ggtggcggtggcagcgctggCgggggggcctcctccagctt							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:46407277delC	ENST00000433765.2	-	1	830	c.831delG	c.(829-831)ccfs	p.P278fs		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	278					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)	GCAGCGCTGGCGGGGGGGCCT	0.672													12	125	---	---	---	---						-	46407277	C	-	46407277	7	5	5	1	0	1	0	1	0	0	0	0	3401	755	27	0	612	0	CHRM4	11	46407277	Frame_Shift_Del	DEL	C	TCGA-FB-A7DR-01A-21D-A33T-08	12675469	46407277	88599239	47	405											
CCDC88B	283234	broad.mit.edu	37	chr11	64120286	64120286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctggcagagcgtgaaCgcctgatgcaagatgggcat	14	11	0	4			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:64120286C>T	ENST00000356786.5	+	20	3471	c.3427C>T	c.(3427-3429)Cgc>Tgc	p.R1143C	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.R295C	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1143					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						AGAGCGTGAACGCCTGATGCA	0.682													13	144					0	0	1	0	0	T	64120286	C	T	64120286	3	4	5	1	0	0	0	0	1	0	0	0	2884	536	19	1	3505	1	CCDC88B	11	64120286	Missense_Mutation	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08	17713009	64120286	70886230	48	406											
ACTN3	89	broad.mit.edu	37	chr11	66318750	66318750	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacacctgcgcaaggcagGcacccagatcgagaacatcg	10	15	1	2			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:66318750G>A	ENST00000513398.1	+	0	285				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						CGCAAGGCAGGCACCCAGATC	0.562													6	51					0	0	1	0	0	A	66318750	G	A	66318750	1	1	5	0	1	0	0	0	0	0	0	0	206	1203	42	2		2	ACTN3	11	66318750	RNA	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	2198464	66318750	68687766	49	407											
ARHGEF17	9828	broad.mit.edu	37	chr11	73022572	73022572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcgccatgccagtgtgccCgccacatttatgcctattgt	9	13	0	0			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:73022572C>T	ENST00000263674.3	+	1	3239	c.2889C>T	c.(2887-2889)ccC>ccT	p.P963P		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	963	Pro-rich.				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						CCAGTGTGCCCGCCACATTTA	0.627													37	337					0	0	1	0	0	T	73022572	C	T	73022572	2	4	5	1	0	0	0	0	0	0	0	1	897	639	23	1		1	ARHGEF17	11	73022572	Silent	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08	6703822	73022572	61983944	50	408											
DGAT2	84649	broad.mit.edu	37	chr11	75508352	75508352	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcggaaccgcaagggcTttgtgaaactggccctgcgt	13	13	0	1			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:75508352T>G	ENST00000228027.7	+	6	1044	c.784T>G	c.(784-786)Ttt>Gtt	p.F262V	DGAT2_ENST00000376262.3_Missense_Mutation_p.F219V	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	262					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					CCGCAAGGGCTTTGTGAAACT	0.617													30	332					0	0	1	0	0	G	75508352	T	G	75508352	3	3	5	1	0	0	0	0	1	0	0	0	4486	1609	56	3	806	3	DGAT2	11	75508352	Missense_Mutation	SNP	T	TCGA-FB-A7DR-01A-21D-A33T-08	2485780	75508352	59498164	51	409											
PAK1	5058	broad.mit.edu	37	chr11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-													aatcactggtggtggggtagCatcatcatcatcatcatcct							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gct>g	p.DA183del	PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478													9	485	---	---	---	---						-	77069992	CAT	-	77069990	7	5	5	1	0	1	0	1	0	0	0	0	11446	710	25	0	1180	0	PAK1	11	77069990	In_Frame_Del	DEL	CAT	TCGA-FB-A7DR-01A-21D-A33T-08	1561638	77069990	57936526	52	410											
STRAP	11171	broad.mit.edu	37	chr12	16036495	16036495	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtaaacctatgctacgcCagggagatacaggagactgg	13	8	0	2			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr12:16036495C>T	ENST00000419869.2	+	2	446	c.133C>T	c.(133-135)Cag>Tag	p.Q45*	STRAP_ENST00000538352.1_Intron|STRAP_ENST00000025399.6_Nonsense_Mutation_p.Q58*	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	45					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)				TATGCTACGCCAGGGAGATAC	0.363													13	145					0	0	1	0	0	T	16036495	C	T	16036495	4	4	5	1	0	0	0	0	0	1	0	0	15382	595	21	2	139	2	STRAP	12	16036495	Nonsense_Mutation	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08		16036495	117815400	53	411											
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-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	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)			10	84					0.000673444	0.000696043	1	1	0	A	25398284	C	A	25398284	3	1	5	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08	9361789	25398284	108453611	54	412											
KRT73	319101	broad.mit.edu	37	chr12	53001991	53001991	+	Frame_Shift_Del	DEL	T	T	-													gttgcacttttatctcatggTttttttggtgggtgagctta							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr12:53001991delT	ENST00000305748.3	-	9	1646	c.1612delA	c.(1612-1614)ccfs	p.T538fs	RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	538	Tail.					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)		TATCTCATGGTTTTTTTGGTG	0.532													8	704	---	---	---	---						-	53001991	T	-	53001991	7	5	5	1	0	1	0	1	0	0	0	0	8529	1725	60	0	14	0	KRT73	12	53001991	Frame_Shift_Del	DEL	T	TCGA-FB-A7DR-01A-21D-A33T-08	27603707	53001991	80849904	55	413											
KRT76	51350	broad.mit.edu	37	chr12	53170672	53170672	+	Frame_Shift_Del	DEL	C	C	-													caccaaagctgccaggcccaCcaaatacaccaggaccacca							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr12:53170672delC	ENST00000332411.2	-	1	457	c.404delG	c.(403-405)gtfs	p.G136fs		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	136	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						gccaggcccaccaaatacacc	0.582													14	101	---	---	---	---						-	53170672	C	-	53170672	7	5	5	1	0	1	0	1	0	0	0	0	8532	507	18	0	1548	0	KRT76	12	53170672	Frame_Shift_Del	DEL	C	TCGA-FB-A7DR-01A-21D-A33T-08	168681	53170672	80681223	56	414											
NAB2	4665	broad.mit.edu	37	chr12	57485472	57485472	+	Silent	SNP	C	C	T													ccccctgcagggggaggagtCcctgaggggactggggctgg							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr12:57485472C>T	ENST00000300131.3	+	2	1026	c.648C>T	c.(646-648)gtC>gtT	p.V216V	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.V216V|NAB2_ENST00000342556.6_Silent_p.V216V	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	216					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						GGGGAGGAGTCCCTGAGGGGA	0.687													20	210					0	0	1	0	0	T	57485472	C	T	57485472	2	4	5	1	0	0	0	0	0	0	0	1	10180	842	30	2		2	NAB2	12	57485472	Silent	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08	4314800	57485472	76366423	57	415	6	3									
NAB2	4665	broad.mit.edu	37	chr12	57485473	57485473	+	Missense_Mutation	SNP	C	C	T													cccctgcagggggaggagtcCctgaggggactggggctggg							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr12:57485473C>T	ENST00000300131.3	+	2	1027	c.649C>T	c.(649-651)Cct>Tct	p.P217S	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.P217S|NAB2_ENST00000342556.6_Missense_Mutation_p.P217S	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	217					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						GGGAGGAGTCCCTGAGGGGAC	0.682													21	214					0	0	1	0	0	T	57485473	C	T	57485473	3	4	5	1	0	0	0	0	1	0	0	0	10180	623	22	2	655	2	NAB2	12	57485473	Missense_Mutation	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08	1	57485473	76366422	58	416	6	3									
NAB2	4665	broad.mit.edu	37	chr12	57485474	57485474	+	Missense_Mutation	SNP	C	C	T													ccctgcagggggaggagtccCtgaggggactggggctgggg							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr12:57485474C>T	ENST00000300131.3	+	2	1028	c.650C>T	c.(649-651)cCt>cTt	p.P217L	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.P217L|NAB2_ENST00000342556.6_Missense_Mutation_p.P217L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	217					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						GGAGGAGTCCCTGAGGGGACT	0.682													22	215					0	0	1	0	0	T	57485474	C	T	57485474	3	4	5	1	0	0	0	0	1	0	0	0	10180	681	24	2	656	2	NAB2	12	57485474	Missense_Mutation	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08	1	57485474	76366421	59	417	6	3									
ARHGEF7	8874	broad.mit.edu	37	chr13	111862267	111862267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccggccctcgtctcaccGcataaagtcttttgactccc	7	17	2	1			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr13:111862267G>A	ENST00000375741.2	+	5	699	c.449G>A	c.(448-450)cGc>cAc	p.R150H	ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	150					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)			TCGTCTCACCGCATAAAGTCT	0.517													7	777					0	0	1	0	0	A	111862267	G	A	111862267	3	1	5	1	0	0	0	0	1	0	0	0	908	1087	38	1	467	1	ARHGEF7	13	111862267	Missense_Mutation	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08		111862267	3307611	60	418											
DCAF4	26094	broad.mit.edu	37	chr14	73407031	73407031	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagagagcatccggcagaaGgagatggagagcaagagact	15	6	0	5			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr14:73407031G>A	ENST00000555042.1	+	4	362	c.297G>A	c.(295-297)aaG>aaA	p.K99K	DCAF4_ENST00000553457.1_5'UTR|DCAF4_ENST00000509153.1_Silent_p.K99K|DCAF4_ENST00000353777.3_Silent_p.K99K|DCAF4_ENST00000394234.2_5'UTR|DCAF4_ENST00000358377.2_Silent_p.K99K	NM_001163508.1	NP_001156980.1	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	99						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						TCCGGCAGAAGGAGATGGAGA	0.562													32	285					0	0	1	0	0	A	73407031	G	A	73407031	2	1	5	1	0	0	0	0	0	0	0	1	4294	991	35	2		2	DCAF4	14	73407031	Silent	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08		73407031	33942509	61	419											
BEGAIN	57596	broad.mit.edu	37	chr14	101005271	101005273	+	In_Frame_Del	DEL	CCT	CCT	-													cgggaaggccgccgcctcggCctcctcctcctcctcggccg							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr14:101005271_101005273delCCT	ENST00000556751.1	-	5	4027_4029	c.623_625delAGG	c.(622-627)gcc>g	p.EA210del	BEGAIN_ENST00000443071.2_In_Frame_Del_p.EA274del|BEGAIN_ENST00000355173.2_In_Frame_Del_p.EA274del			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	274						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCCGCCTCGGCCTCCTCCTCCTC	0.724													8	74	---	---	---	---						-	101005273	CCT	-	101005271	7	5	5	1	0	1	0	1	0	0	0	0	1395	739	26	0	968	0	BEGAIN	14	101005271	In_Frame_Del	DEL	CCT	TCGA-FB-A7DR-01A-21D-A33T-08	27598240	101005271	6344269	62	420											
CLK3	1198	broad.mit.edu	37	chr15	74922153	74922153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacactggccgaggccctgCtgcaccccttctttgctggc	10	17	2	0			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr15:74922153C>A	ENST00000395066.3	+	13	2307	c.1846C>A	c.(1846-1848)Ctg>Atg	p.L616M	CLK3_ENST00000345005.4_Missense_Mutation_p.L468M|CLK3_ENST00000352989.5_Missense_Mutation_p.L445M|CLK3_ENST00000348245.3_3'UTR	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	616	Protein kinase.					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						CGAGGCCCTGCTGCACCCCTT	0.607													15	78					1.52009e-12	1.68413e-12	1	1	0	A	74922153	C	A	74922153	3	1	5	1	0	0	0	0	1	0	0	0	3561	796	28	2	1896	2	CLK3	15	74922153	Missense_Mutation	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08		74922153	27609239	63	421											
GPR114	221188	broad.mit.edu	37	chr16	57604382	57604382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtcaagagctcggtataCggaccctgcacaatccccgt	9	14	2	1			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr16:57604382C>T	ENST00000340339.4	+	10	1666	c.1143C>T	c.(1141-1143)taC>taT	p.Y381Y	GPR114_ENST00000349457.3_Silent_p.Y381Y|GPR114_ENST00000394361.4_Intron	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	381					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GCTCGGTATACGGACCCTGCA	0.622													4	241					0	0	1	0	0	T	57604382	C	T	57604382	2	4	5	1	0	0	0	0	0	0	0	1	6671	547	19	1		1	GPR114	16	57604382	Silent	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08		57604382	32750371	64	422											
COTL1	23406	broad.mit.edu	37	chr16	84600451	84600451	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtggcgggggctggggTtactccgtctgggcgtcgta	20	8	1	0			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr16:84600451T>G	ENST00000262428.4	-	4	591	c.429A>C	c.(427-429)taA>taC	p.*143Y	COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y|COTL1_ENST00000567278.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	0						cytoplasm|cytoskeleton	actin binding|enzyme binding			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GGGGCTGGGGTTACTCCGTCT	0.622													10	95					0	0	1	0	0	G	84600451	T	G	84600451	4	3	5	1	0	0	0	0	0	0	0	0	3784	1732	60	3	3	3	COTL1	16	84600451	Nonstop_Mutation	SNP	T	TCGA-FB-A7DR-01A-21D-A33T-08	26996069	84600451	5754302	65	423											
FNDC8	54752	broad.mit.edu	37	chr17	33457365	33457365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccatccagatcaccgtgcGgcgcaaggaaccccggcaaa	10	17	1	1			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:33457365G>A	ENST00000158009.5	+	4	1002	c.887G>A	c.(886-888)cGg>cAg	p.R296Q	NLE1_ENST00000586869.1_3'UTR	NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	296										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)		ATCACCGTGCGGCGCAAGGAA	0.557													4	255					0	0	1	0	0	A	33457365	G	A	33457365	3	1	5	1	0	0	0	0	1	0	0	0	6007	1116	39	1	901	1	FNDC8	17	33457365	Missense_Mutation	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08		33457365	47737845	66	424											
GAS2L2	246176	broad.mit.edu	37	chr17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-													gctctttctcctcctttcctTcctcctcctcctcacctact							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaa>ga	p.EE840del	GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					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)		ctcctttccttcctcctcctcct	0.616													11	251	---	---	---	---						-	34071996	TCC	-	34071994	7	5	5	1	0	1	0	1	0	0	0	0	6287	1783	62	0	124	0	GAS2L2	17	34071994	In_Frame_Del	DEL	TCC	TCGA-FB-A7DR-01A-21D-A33T-08	614629	34071994	47123216	67	425											
COIL	8161	broad.mit.edu	37	chr17	55028015	55028016	+	Frame_Shift_Ins	INS	-	-	T													gagacttgggattcttagccINSttttttttatattcacattt							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:55028015_55028016insT	ENST00000240316.4	-	2	621_622	c.587_588insA	c.(586-588)agcfs	p.S196fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	196	Lys-rich (basic).					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)					GATTCTTAGCCTTTTTTTTATA	0.396													7	452	---	---	---	---						T	55028016	-	T	55028015	7	5	5	1	0	1	1	0	0	0	0	0	3688	680	24	0	1166	0	COIL	17	55028015	Frame_Shift_Ins	INS	-	TCGA-FB-A7DR-01A-21D-A33T-08	20956021	55028015	26167195	68	426											
KCNH6	81033	broad.mit.edu	37	chr17	61607501	61607501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccgtgaagaacgaggaCggggctgtcatcatgttcat	14	9	3	2			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:61607501C>T	ENST00000583023.1	+	3	368	c.357C>T	c.(355-357)gaC>gaT	p.D119D	KCNH6_ENST00000581784.1_Silent_p.D119D|KCNH6_ENST00000580652.1_Silent_p.D119D|KCNH6_ENST00000456941.2_Silent_p.D119D|KCNH6_ENST00000314672.5_Silent_p.D119D	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	119	PAC.				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)	AGAACGAGGACGGGGCTGTCA	0.632													23	274					0	0	1	0	0	T	61607501	C	T	61607501	2	4	5	1	0	0	0	0	0	0	0	1	8080	535	19	1		1	KCNH6	17	61607501	Silent	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08	6579486	61607501	19587709	69	427											
C17orf70	80233	broad.mit.edu	37	chr17	79514425	79514425	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatggtgtaggtgatggcGgagcaggccgagtccaggtc	20	7	0	1			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:79514425G>A	ENST00000537152.1	-	5	1755	c.1230C>T	c.(1228-1230)tcC>tcT	p.S410S	C17orf70_ENST00000425898.2_Silent_p.S210S|C17orf70_ENST00000327787.8_Silent_p.S561S	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	561					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)			AGGTGATGGCGGAGCAGGCCG	0.677													6	410					0	0	1	0	0	A	79514425	G	A	79514425	2	1	5	1	0	0	0	0	0	0	0	1	1886	1103	39	1		1	C17orf70	17	79514425	Silent	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	17906924	79514425	1680785	70	428											
SLC16A3	9123	broad.mit.edu	37	chr17	80194631	80194631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcagtgtgtgcgtgaacCgctttggctgccggcccgtc	14	13	1	1			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:80194631C>T	ENST00000581287.1	+	2	2572	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	SLC16A3_ENST00000584781.1_3'UTR|SLC16A3_ENST00000392341.1_Missense_Mutation_p.R84C|SLC16A3_ENST00000582743.1_Missense_Mutation_p.R84C|SLC16A3_ENST00000392339.1_Missense_Mutation_p.R84C	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	84					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|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;0.0149)		Pyruvic acid(DB00119)	GTGCGTGAACCGCTTTGGCTG	0.662											OREG0024821	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	62	420					0	0	1	0	0	T	80194631	C	T	80194631	3	4	5	1	0	0	0	0	1	0	0	0	14464	652	23	1	256	1	SLC16A3	17	80194631	Missense_Mutation	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08	680206	80194631	1000579	71	429											
TMED1	11018	broad.mit.edu	37	chr19	10945733	10945733	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagaacaccagcttctcggaGatggtgctgaaggagttgtc	13	8	1	3			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:10945733G>T	ENST00000214869.2	-	3	440	c.342C>A	c.(340-342)atC>atA	p.I114I	TMED1_ENST00000591695.1_Intron|TMED1_ENST00000588289.1_5'UTR	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	114	GOLD.				cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						GCTTCTCGGAGATGGTGCTGA	0.587													48	376					1.76056e-25	2.05398e-25	1	1	0	T	10945733	G	T	10945733	2	4	5	1	0	0	0	0	0	0	0	1	16062	932	33	2		2	TMED1	19	10945733	Silent	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08		10945733	48183250	72	430											
JAK3	3718	broad.mit.edu	37	chr19	17943491	17943491	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcctagcgggtcatagcgGcacagctccacgctgccaaa	11	15	1	0			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:17943491G>A	ENST00000458235.1	-	19	2616	c.2517C>T	c.(2515-2517)tgC>tgT	p.C839C	JAK3_ENST00000534444.1_Silent_p.C839C|JAK3_ENST00000527670.1_Silent_p.C839C	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	839	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						GGTCATAGCGGCACAGCTCCA	0.647		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								6	547					0	0	1	0	0	A	17943491	G	A	17943491	2	1	5	1	0	0	0	0	0	0	0	1	7983	1195	42	2		2	JAK3	19	17943491	Silent	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	6997758	17943491	41185492	73	431											
KLHL26	55295	broad.mit.edu	37	chr19	18779702	18779702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccatgagcgaaccccgcGtgctacacgccatggtgggt	13	15	0	1			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:18779702G>A	ENST00000300976.4	+	3	1585	c.1495G>A	c.(1495-1497)Gtg>Atg	p.V499M	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	499								p.V499M(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CGAACCCCGCGTGCTACACGC	0.667													33	282					0	0	1	0	0	A	18779702	G	A	18779702	3	1	5	1	0	0	0	0	1	0	0	0	8424	1145	40	1	1505	1	KLHL26	19	18779702	Missense_Mutation	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	836211	18779702	40349281	74	432											
ZNF676	163223	broad.mit.edu	37	chr19	22363559	22363559	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttcagtaaggcttgaggaCcagctgaaggctttgccaca	12	9	1	2			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:22363559C>A	ENST00000397121.2	-	3	1277	c.960G>T	c.(958-960)tgG>tgT	p.W320C		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	320					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)				GGCTTGAGGACCAGCTGAAGG	0.433													7	376					6.94344e-10	7.58362e-10	1	1	0	A	22363559	C	A	22363559	3	1	5	1	0	0	0	0	1	0	0	0	18140	508	18	2	810	2	ZNF676	19	22363559	Missense_Mutation	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08	3583857	22363559	36765424	75	433											
NTN5	126147	broad.mit.edu	37	chr19	49174003	49174003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcctggggtacagaagcGcaagctgacagatgtcagga	16	8	1	3			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:49174003G>A	ENST00000270235.4	-	2	336	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	81						extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						GTACAGAAGCGCAAGCTGACA	0.672													20	110					0	0	1	0	0	A	49174003	G	A	49174003	3	1	5	1	0	0	0	0	1	0	0	0	10751	1087	38	1	1252	1	NTN5	19	49174003	Missense_Mutation	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	26810444	49174003	9954980	76	434											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-													cctttctgctccttcctccaTcctcctcctcctcctccagc							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gat>ga	p.ED67del	TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.					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)					CCTTCCTCCATCCTCCTCCTCCT	0.645													10	329	---	---	---	---						-	54675749	TCC	-	54675747	7	5	5	1	0	1	0	1	0	0	0	0	16047	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-FB-A7DR-01A-21D-A33T-08	5501744	54675747	4453236	77	435											
SNAP25	6616	broad.mit.edu	37	chr20	10273546	10273546	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagaacaactcgatcgtgtCgaagaaggcatgaaccatat	9	10	0	3			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr20:10273546C>T	ENST00000304886.2	+	5	388	c.180C>T	c.(178-180)gtC>gtT	p.V60V	SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000254976.2_Intron|SNAP25-AS1_ENST00000421143.2_RNA	NM_003081.3	NP_003072.2	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	60	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	TCGATCGTGTCGAAGAAGGCA	0.403													52	273					0	0	1	0	0	T	10273546	C	T	10273546	2	4	5	1	0	0	0	0	0	0	0	1	14884	871	31	1		1	SNAP25	20	10273546	Silent	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08		10273546	52751974	78	436											
ZNF341	84905	broad.mit.edu	37	chr20	32336800	32336800	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggggaacatcttggtgagCgatgatgtgctcatgtctgc	14	8	3	2			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr20:32336800C>A	ENST00000375200.1	+	4	776	c.411C>A	c.(409-411)agC>agA	p.S137R	ZNF341_ENST00000342427.2_Missense_Mutation_p.S137R			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	137					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						TCTTGGTGAGCGATGATGTGC	0.582													25	242					7.87624e-14	8.85359e-14	1	1	0	A	32336800	C	A	32336800	3	1	5	1	0	0	0	0	1	0	0	0	17914	767	27	4	425	4	ZNF341	20	32336800	Missense_Mutation	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08	22063254	32336800	30688720	79	437											
STAU1	6780	broad.mit.edu	37	chr20	47733693	47733693	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggactccacatccttgccGataccatggctgatcagagg	10	13	1	2			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr20:47733693G>A	ENST00000371828.3	-	12	1864	c.1377C>T	c.(1375-1377)atC>atT	p.I459I	STAU1_ENST00000371856.2_Silent_p.I534I|STAU1_ENST00000340954.7_Silent_p.I453I|STAU1_ENST00000371792.1_Silent_p.I451I|STAU1_ENST00000347458.5_Silent_p.I453I|STAU1_ENST00000371802.1_Silent_p.I459I|STAU1_ENST00000360426.4_Silent_p.I453I	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	534						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)			CATCCTTGCCGATACCATGGC	0.478													5	323					0	0	1	0	0	A	47733693	G	A	47733693	2	1	5	1	0	0	0	0	0	0	0	1	15328	1048	37	1		1	STAU1	20	47733693	Silent	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	15396893	47733693	15291827	80	438											
SLC9A8	23315	broad.mit.edu	37	chr20	48467301	48467301	+	Frame_Shift_Del	DEL	T	T	-													atcttggctgttctccagggTtttttttttgtgtgtgtctg							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr20:48467301delT	ENST00000417961.1	+	7	747	c.537delT	c.(535-537)ggfs	p.G179fs	SLC9A8_ENST00000361573.2_Intron|SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000539601.1_Intron	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	178						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTCTCCAGGGTTTTTTTTTTG	0.333													14	119	---	---	---	---						-	48467301	T	-	48467301	7	5	5	1	0	1	0	1	0	0	0	0	14775	1740	60	0		0	SLC9A8	20	48467301	Frame_Shift_Del	DEL	T	TCGA-FB-A7DR-01A-21D-A33T-08	733608	48467301	14558219	81	439											
CBR3	874	broad.mit.edu	37	chr21	37510175	37510175	+	Frame_Shift_Del	DEL	T	T	-													gagatgacactgaagacaaaTttttttgccactagaaacat							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr21:37510175delT	ENST00000290354.5	+	2	623	c.342delT	c.(340-342)aafs	p.N114fs	CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000453159.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	114						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding			kidney(1)|large_intestine(1)|lung(1)	3						TGAAGACAAATTTTTTTGCCA	0.408													8	492	---	---	---	---						-	37510175	T	-	37510175	7	5	5	1	0	1	0	1	0	0	0	0	2727	1490	52	0	348	0	CBR3	21	37510175	Frame_Shift_Del	DEL	T	TCGA-FB-A7DR-01A-21D-A33T-08		37510175	10619720	82	440											
HLCS	3141	broad.mit.edu	37	chr21	38308856	38308856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctgccggggctgagccGgacggggccttcctggtacc	17	14	0	1	rs139902499		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr21:38308856G>A	ENST00000399120.1	-	5	2119	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	HLCS_ENST00000336648.3_Missense_Mutation_p.R297W	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	297					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)	GGGCTGAGCCGGACGGGGCCT	0.592													5	422					0	0	1	0	0	A	38308856	G	A	38308856	3	1	5	1	0	0	0	0	1	0	0	0	7254	1115	39	1	1323	1	HLCS	21	38308856	Missense_Mutation	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	798681	38308856	9821039	83	441											
BACE2	25825	broad.mit.edu	37	chr21	42647459	42647461	+	In_Frame_Del	DEL	CTG	CTG	-													tcctccttgtcttaatcgtcCtgctgctgctgccgttccgg							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr21:42647459_42647461delCTG	ENST00000330333.6	+	9	1928_1930	c.1465_1467delCTG	c.(1465-1467)del	p.L492del	BACE2_ENST00000347667.4_In_Frame_Del_p.L442del|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	492					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)				CTTAATCGTCCTGCTGCTGCTGC	0.567													9	227	---	---	---	---						-	42647461	CTG	-	42647459	7	5	5	1	0	1	0	1	0	0	0	0	1280	680	24	0	1499	0	BACE2	21	42647459	In_Frame_Del	DEL	CTG	TCGA-FB-A7DR-01A-21D-A33T-08	4338603	42647459	5482436	84	442											
COL18A1	80781	broad.mit.edu	37	chr21	46925285	46925285	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagctatcagcgttccCggccctccgggcccccctgg	11	20	1	0			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr21:46925285C>T	ENST00000359759.4	+	35	4293	c.4272C>T	c.(4270-4272)ccC>ccT	p.P1424P	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Silent_p.P1009P|COL18A1_ENST00000355480.5_Silent_p.P1189P			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1424	Nonhelical region 10 (NC10).				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)		TCAGCGTTCCCGGCCCTCCGG	0.701													6	86					0	0	1	0	0	T	46925285	C	T	46925285	2	4	5	1	0	0	0	0	0	0	0	1	3698	639	23	1		1	COL18A1	21	46925285	Silent	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08	4277826	46925285	1204610	85	443											
PIWIL3	440822	broad.mit.edu	37	chr22	25150021	25150021	+	Frame_Shift_Del	DEL	C	C	-													aattaatttattagttacttCctctcggatgtttcctgtct							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr22:25150021delC	ENST00000332271.5	-	8	1353	c.937delG	c.(937-939)aafs	p.E313fs	PIWIL3_ENST00000533313.1_Frame_Shift_Del_p.E204fs|PIWIL3_ENST00000527701.1_Frame_Shift_Del_p.E204fs|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	313	PAZ.				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						TTAGTTACTTCCTCTCGGATG	0.428													52	303	---	---	---	---						-	25150021	C	-	25150021	7	5	5	1	0	1	0	1	0	0	0	0	12007	864	30	0	1767	0	PIWIL3	22	25150021	Frame_Shift_Del	DEL	C	TCGA-FB-A7DR-01A-21D-A33T-08		25150021	26154545	86	444											
ARFGAP3	26286	broad.mit.edu	37	chr22	43230269	43230269	+	Frame_Shift_Del	DEL	A	A	-													tcaggagaaacgtgagaggcAaaaaaatcttcctcctttgg							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr22:43230269delA	ENST00000263245.5	-	5	675	c.456delT	c.(454-456)ttfs	p.F152fs	ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.F108fs|ARFGAP3_ENST00000429508.2_Intron	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	152					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CGTGAGAGGCAAAAAAATCTT	0.398													7	619	---	---	---	---						-	43230269	A	-	43230269	7	5	5	1	0	1	0	1	0	0	0	0	848	127	5	0	1142	0	ARFGAP3	22	43230269	Frame_Shift_Del	DEL	A	TCGA-FB-A7DR-01A-21D-A33T-08	18080248	43230269	8074297	87	445											
PRRG1	5638	broad.mit.edu	37	chrX	37312610	37312611	+	Frame_Shift_Ins	INS	-	-	C													accttaatattatcaccccaINSccccccccaccagatgaagt							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chrX:37312610_37312611insC	ENST00000542554.1	+	5	665_666	c.393_394insC	c.(391-396)ccccccfs	p.PP131fs	PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.PP131fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.PP131fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	131	Poly-Pro.					extracellular region|integral to plasma membrane	calcium ion binding	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TTATCACCCCACCCCCCCCACC	0.485													7	346	---	---	---	---						C	37312611	-	C	37312610	7	5	5	1	0	1	1	0	0	0	0	0	12655	146	6	0	485	0	PRRG1	23	37312610	Frame_Shift_Ins	INS	-	TCGA-FB-A7DR-01A-21D-A33T-08		37312610	117957950	88	446											
MED12	9968	broad.mit.edu	37	chrX	70360648	70360650	+	In_Frame_Del	DEL	CAG	CAG	-													agcagcagcagcaacagcaaCagcagcagcagcagcagcag							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chrX:70360648_70360650delCAG	ENST00000333646.6	+	42	6416_6418	c.6217_6219delCAG	c.(6217-6219)del	p.Q2079del	MED12_ENST00000374080.3_In_Frame_Del_p.Q2076del|MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del|MED12_ENST00000478889.1_3'UTR	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)					gcaacagcaacagcagcagcagc	0.621			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	155	---	---	---	---						-	70360650	CAG	-	70360648	7	5	5	1	0	1	0	1	0	0	0	0	9478	479	17	0	6374	0	MED12	23	70360648	In_Frame_Del	DEL	CAG	TCGA-FB-A7DR-01A-21D-A33T-08	33048038	70360648	84909912	89	447											
MAGEE1	57692	broad.mit.edu	37	chrX	75648564	75648564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcccaagcacctttgtgCcgcccaccatctctgaggcc	10	17	1	1			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chrX:75648564C>T	ENST00000361470.2	+	1	519	c.241C>T	c.(241-243)Ccg>Tcg	p.P81S		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	81						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						CACCTTTGTGCCGCCCACCAT	0.682													3	48					0	0	1	0	0	T	75648564	C	T	75648564	3	4	5	1	0	0	0	0	1	0	0	0	9235	739	26	2	243	2	MAGEE1	23	75648564	Missense_Mutation	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08	5287916	75648564	79621996	90	448											
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-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	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_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR	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													6	98					0	0	1	0	0	T	112058796	C	T	112058796	2	4	5	1	0	0	0	0	0	0	0	1	578	796	28	2		2	AMOT	23	112058796	Silent	SNP	C	TCGA-FB-A7DR-01A-21D-A33T-08	36410232	112058796	43211764	91	449											
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-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	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													4	182					0	0	1	0	0	A	125686253	G	A	125686253	2	1	5	1	0	0	0	0	0	0	0	1	4288	1079	38	1		1	DCAF12L1	23	125686253	Silent	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	13627457	125686253	29584307	92	450											
MAGEC1	9947	broad.mit.edu	37	chrX	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-													cctctccagattcctgtgagCtcctcctcctcctcctccac					rs144357389	byFrequency	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agc>ag	p.SS487del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	487							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)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)			9	648	---	---	---	---						-	140994641	CTC	-	140994639	7	5	5	1	0	1	0	1	0	0	0	0	9230	796	28	0	1455	0	MAGEC1	23	140994639	In_Frame_Del	DEL	CTC	TCGA-FB-A7DR-01A-21D-A33T-08	15308386	140994639	14275921	93	451											
MAGEC1	9947	broad.mit.edu	37	chrX	140994960	140994960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagggggaggactccctGtctcctcactactttcctca	8	16	4	0			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590							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)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)			7	953					0	0	1	0	0	A	140994960	G	A	140994960	2	1	5	1	0	0	0	0	0	0	0	1	9230	1364	48	2		2	MAGEC1	23	140994960	Silent	SNP	G	TCGA-FB-A7DR-01A-21D-A33T-08	321	140994960	14275600	94	452											
MAMLD1	10046	broad.mit.edu	37	chrX	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-													gtaatcttctaagccagcaaCagcagcagcagcagcagcag							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)del	p.Q502del	MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532													7	186	---	---	---	---						-	149639327	CAG	-	149639325	7	5	5	1	0	1	0	1	0	0	0	0	9258	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Del	DEL	CAG	TCGA-FB-A7DR-01A-21D-A33T-08	8644365	149639325	5631235	95	453											
MAGEA10	4109	broad.mit.edu	37	chrX	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-													gcttggtattagaggatagcAggaggaggaggaggaagagg							TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tgc>t	p.SC62del	MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562													7	315	---	---	---	---						-	151303908	AGG	-	151303906	7	5	5	1	0	1	0	1	0	0	0	0	9210	188	7	0	926	0	MAGEA10	23	151303906	In_Frame_Del	DEL	AGG	TCGA-FB-A7DR-01A-21D-A33T-08	1664581	151303906	3966654	96	454											
CLCNKA	0	broad.mit.edu	37	chr1	16356526	16356526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctgagggcattgtgactgGaggggttaccaatcccatca	12	11	1	2	rs71587743		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:16356526G>A	ENST00000375692.1	+	15	1492	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G412E|CLCNKA_ENST00000420078.1_Missense_Mutation_p.G455E|CLCNKA_ENST00000331433.4_Missense_Mutation_p.G455E			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	455					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)	ATTGTGACTGGAGGGGTTACC	0.662													15	298					0	0	1	0	0	A	16356526	G	A	16356526	3	1	6	1	0	0	0	0	1	0	0	0	3492	1174	41	2	1414	2	CLCNKA	1	16356526	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08		16356526	232894095	1	455											
CSMD2	114784	broad.mit.edu	37	chr1	34285425	34285425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgttgcaggtgaactggaCgctggatcctaacctgggag	14	10	0	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:34285425C>T	ENST00000373381.4	-	9	1389	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	365	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)				GTGAACTGGACGCTGGATCCT	0.592													13	246					0	0	1	0	0	T	34285425	C	T	34285425	3	4	6	1	0	0	0	0	1	0	0	0	3970	536	19	1	9614	1	CSMD2	1	34285425	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	17928899	34285425	214965196	2	456											
HMGB4	127540	broad.mit.edu	37	chr1	34329991	34329991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaagccctggccaaactcGacaaagcccgataccaggaa	9	13	0	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:34329991G>A	ENST00000522796.1	+	4	2104	c.199G>A	c.(199-201)Gac>Aac	p.D67N	HMGB4_ENST00000519684.1_Missense_Mutation_p.D67N|HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	67						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)				GGCCAAACTCGACAAAGCCCG	0.458													62	584					0	0	1	0	0	A	34329991	G	A	34329991	3	1	6	1	0	0	0	0	1	0	0	0	7269	1058	37	1	201	1	HMGB4	1	34329991	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	44566	34329991	214920630	3	457											
ATXN7L2	127002	broad.mit.edu	37	chr1	110031576	110031576	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaggggagtctcccaaggaGaagagcccagggcgcaagga	16	9	1	2			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:110031576G>A	ENST00000369870.3	+	7	906	c.891G>A	c.(889-891)gaG>gaA	p.E297E		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	297	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)		CTCCCAAGGAGAAGAGCCCAG	0.652													12	268					0	0	1	0	0	A	110031576	G	A	110031576	2	1	6	1	0	0	0	0	0	0	0	1	1215	933	33	2		2	ATXN7L2	1	110031576	Silent	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	75701585	110031576	139219045	4	458											
EPS8L3	79574	broad.mit.edu	37	chr1	110300579	110300580	+	Frame_Shift_Ins	INS	-	-	T													actcacctccctggtccttgINSttttttttcccaaatttctt							TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:110300579_110300580insT	ENST00000369805.3	-	9	1050_1051	c.821_822insA	c.(820-822)aaafs	p.K274fs	EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	273						cytoplasm	protein binding	p.N274fs*33(2)		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)		CCTGGTCCTTGTTTTTTTTCCC	0.545													7	862	---	---	---	---						T	110300580	-	T	110300579	7	5	6	1	0	1	1	0	0	0	0	0	5225	1368	48	0	1006	0	EPS8L3	1	110300579	Frame_Shift_Ins	INS	-	TCGA-FZ-5919-01A-11D-1609-08	269003	110300579	138950042	5	459											
PIK3C2B	5287	broad.mit.edu	37	chr1	204416603	204416603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgatgtctttaagcttgCgctggtcttcttcccggagg	12	10	3	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:204416603C>T	ENST00000367187.3	-	16	3006	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R817H	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)			TTTAAGCTTGCGCTGGTCTTC	0.557													52	245					0	0	1	0	0	T	204416603	C	T	204416603	3	4	6	1	0	0	0	0	1	0	0	0	11958	768	27	1	2530	1	PIK3C2B	1	204416603	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	94116024	204416603	44834018	6	460											
LRRN2	10446	broad.mit.edu	37	chr1	204589069	204589069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtaccacgggcacagcggCagtggcaccagccacccaag	14	15	0	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:204589069C>T	ENST00000367175.1	-	1	2264	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	LRRN2_ENST00000367177.3_Missense_Mutation_p.A18T|LRRN2_ENST00000367176.3_Missense_Mutation_p.A18T|LRRN2_ENST00000496057.1_5'UTR			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	18					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)			GGCACAGCGGCAGTGGCACCA	0.647													9	98					0	0	1	0	0	T	204589069	C	T	204589069	3	4	6	1	0	0	0	0	1	0	0	0	9080	710	25	2	2093	2	LRRN2	1	204589069	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	172466	204589069	44661552	7	461											
TTN	7273	broad.mit.edu	37	chr2	179576918	179576918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccaacagacaccttaacCggctccaactgcttgacaaa	5	15	1	2			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:179576918C>T	ENST00000589042.1	-	96	27863	c.27639G>A	c.(27637-27639)ccG>ccA	p.P9213P	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.P8896P|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.P7969P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8896	Ig-like 75.						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)			ACACCTTAACCGGCTCCAACT	0.443													15	328					0	0	1	0	0	T	179576918	C	T	179576918	2	4	6	1	0	0	0	0	0	0	0	1	16797	639	23	1		1	TTN	2	179576918	Silent	SNP	C	TCGA-FZ-5919-01A-11D-1609-08		179576918	63622455	8	462											
TTN	7273	broad.mit.edu	37	chr2	179643640	179643640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagtgtgggaatgtaagtcGgagctccaagtggtgcagca	15	7	0	0	rs144011561		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:179643640G>A	ENST00000589042.1	-	24	4393	c.4169C>T	c.(4168-4170)cCg>cTg	p.P1390L	TTN_ENST00000359218.5_Missense_Mutation_p.P1344L|TTN_ENST00000591111.1_Missense_Mutation_p.P1390L|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P1344L|TTN_ENST00000342992.6_Missense_Mutation_p.P1390L|TTN_ENST00000360870.5_Missense_Mutation_p.P1390L|TTN_ENST00000460472.2_Missense_Mutation_p.P1344L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1390							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)			AATGTAAGTCGGAGCTCCAAG	0.388													17	318					0	0	1	0	0	A	179643640	G	A	179643640	3	1	6	1	0	0	0	0	1	0	0	0	16797	1116	39	1	107175	1	TTN	2	179643640	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	66722	179643640	63555733	9	463											
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-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	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													8	647					0	0	1	0	0	A	196825327	G	A	196825327	3	1	6	1	0	0	0	0	1	0	0	0	4633	1087	38	1	9718	1	DNAH7	2	196825327	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	17181687	196825327	46374046	10	464											
CPS1	1373	broad.mit.edu	37	chr2	211532923	211532923	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaacaggtggcttgctttgGtgaaggtattcatacagcct	11	7	1	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:211532923G>T	ENST00000233072.5	+	34	4212	c.4016G>T	c.(4015-4017)gGt>gTt	p.G1339V	CPS1_ENST00000451903.2_Missense_Mutation_p.G888V|CPS1_ENST00000430249.2_Missense_Mutation_p.G1345V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1339					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)		GCTTGCTTTGGTGAAGGTATT	0.368													26	366					2.44723e-14	2.63369e-14	1	1	0	T	211532923	G	T	211532923	3	4	6	1	0	0	0	0	1	0	0	0	3846	1261	44	2	4172	2	CPS1	2	211532923	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	14707596	211532923	31666450	11	465											
PIK3CA	5290	broad.mit.edu	37	chr3	178917478	178917478	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatgtaattttattaaagGttttgctatcggcatgccag	8	5	0	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.352_splice	c.e3-1	p.G118_splice		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118					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.G118D(26)		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)			TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			35	228					0	0	1	0	0	A	178917478	G	A	178917478	5	1	6	1	0	0	0	0	0	0	1	0	11961	1275	44	2	359	2	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-FZ-5919-01A-11D-1609-08		178917478	19104952	12	466											
WDR1	9948	broad.mit.edu	37	chr4	10080533	10080533	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacacccccaattgccacCgtgtccccgccggggtgcac	9	20	0	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr4:10080533C>T	ENST00000382452.2	-	12	1659	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	WDR1_ENST00000382451.2_Silent_p.T319T|WDR1_ENST00000502702.1_Silent_p.T319T|WDR1_ENST00000499869.2_Silent_p.T459T|WDR1_ENST00000515743.1_5'UTR	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	459					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)		CAATTGCCACCGTGTCCCCGC	0.592													5	259					0	0	1	0	0	T	10080533	C	T	10080533	2	4	6	1	0	0	0	0	0	0	0	1	17332	639	23	1		1	WDR1	4	10080533	Silent	SNP	C	TCGA-FZ-5919-01A-11D-1609-08		10080533	181073743	13	467											
NPY2R	4887	broad.mit.edu	37	chr4	156135813	156135813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatatcattttcctacactcGcatttggagtaaattgaaga	6	7	1	2			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr4:156135813G>A	ENST00000329476.3	+	2	1211	c.722G>A	c.(721-723)cGc>cAc	p.R241H	NPY2R_ENST00000506608.1_Missense_Mutation_p.R241H	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	241					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)				TCCTACACTCGCATTTGGAGT	0.448													8	344					0	0	1	0	0	A	156135813	G	A	156135813	3	1	6	1	0	0	0	0	1	0	0	0	10657	1087	38	1	724	1	NPY2R	4	156135813	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	146055280	156135813	35018463	14	468											
SORBS2	8470	broad.mit.edu	37	chr4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-													gcaggagctgatgaggtggcGgtggtggtggtggtggtgat							TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr4:186544620_186544622delGGT	ENST00000431808.1	-	14	2512_2514	c.1949_1951delACC	c.(1948-1953)cgc>c	p.HR650del	SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000448662.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	650	His-rich.					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)		ATGAggtggcggtggtggtggtg	0.522													8	370	---	---	---	---						-	186544622	GGT	-	186544620	7	5	6	1	0	1	0	1	0	0	0	0	14982	1116	39	0	1387	0	SORBS2	4	186544620	In_Frame_Del	DEL	GGT	TCGA-FZ-5919-01A-11D-1609-08	30408807	186544620	4609656	15	469											
RAD17	5884	broad.mit.edu	37	chr5	68669707	68669707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattttctagagtgtagtggCgtctctactattactgccac	9	9	2	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr5:68669707C>T	ENST00000509734.1	+	4	771	c.93C>T	c.(91-93)ggC>ggT	p.G31G	RAD17_ENST00000354868.5_Silent_p.G20G|RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000354312.3_Silent_p.G20G|RAD17_ENST00000345306.6_Silent_p.G20G|RAD17_ENST00000305138.4_Silent_p.G20G|RAD17_ENST00000282891.6_Intron|RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000380774.3_Silent_p.G31G|RAD17_ENST00000361732.2_Silent_p.G20G|RAD17_ENST00000504177.1_Intron			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	31					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)		AGTGTAGTGGCGTCTCTACTA	0.363								Other conserved DNA damage response genes					47	324					0	0	1	0	0	T	68669707	C	T	68669707	2	4	6	1	0	0	0	0	0	0	0	1	13031	755	27	1		1	RAD17	5	68669707	Silent	SNP	C	TCGA-FZ-5919-01A-11D-1609-08		68669707	112245553	16	470											
GRM6	2916	broad.mit.edu	37	chr5	178413312	178413312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcgggcggcacagaccGcggccccaggctcagccacc	14	19	1	1	rs61733863	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr5:178413312G>A	ENST00000231188.5	-	8	2121	c.1943C>T	c.(1942-1944)gCg>gTg	p.A648V	GRM6_ENST00000517717.1_Missense_Mutation_p.A648V|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	648					detection of visible light|visual perception	integral to plasma membrane		p.A648V(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)		GGCACAGACCGCGGCCCCAGG	0.642													7	142					0	0	1	0	0	A	178413312	G	A	178413312	3	1	6	1	0	0	0	0	1	0	0	0	6842	1087	38	1	702	1	GRM6	5	178413312	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	109743605	178413312	2501948	17	471											
ENPP5	59084	broad.mit.edu	37	chr6	46129388	46129388	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtagtgggtacaaatctgtgGagttcatggcttcttttgag	13	5	3	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:46129388G>T	ENST00000371383.2	-	5	1369	c.1109C>A	c.(1108-1110)tCc>tAc	p.S370Y	ENPP5_ENST00000230565.3_Missense_Mutation_p.S370Y			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	370						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						CAAATCTGTGGAGTTCATGGC	0.448													42	1243					7.26314e-15	7.89168e-15	1	1	0	T	46129388	G	T	46129388	3	4	6	1	0	0	0	0	1	0	0	0	5161	1174	41	2	328	2	ENPP5	6	46129388	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08		46129388	124985679	18	472											
RNGTT	8732	broad.mit.edu	37	chr6	89388128	89388128	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atacaggaggccaacattctGaggaagtaacctacaaagaa	9	8	1	2			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:89388128G>C	ENST00000369485.4	-	14	1636	c.1450C>G	c.(1450-1452)Cag>Gag	p.Q484E	RNGTT_ENST00000538899.1_Missense_Mutation_p.Q401E|RNGTT_ENST00000369475.3_Missense_Mutation_p.Q484E|RNGTT_ENST00000265607.6_Missense_Mutation_p.Q461E	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	484	GTase.			Q -> P (in Ref. 1; AAB91559).	interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CCAACATTCTGAGGAAGTAAC	0.294													6	164					0	0	1	0	0	C	89388128	G	C	89388128	3	2	6	1	0	0	0	0	1	0	0	0	13555	1299	45	5	355	5	RNGTT	6	89388128	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	43258740	89388128	81726939	19	473											
SHPRH	257218	broad.mit.edu	37	chr6	146207836	146207836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagtgtagttcattcaagCtcttcagtttctttggtaaa	7	7	6	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:146207836C>T	ENST00000367503.3	-	30	5453	c.5055G>A	c.(5053-5055)gaG>gaA	p.E1685E	SHPRH_ENST00000275233.7_Silent_p.E1681E|SHPRH_ENST00000438092.2_Intron|SHPRH_ENST00000367505.2_Silent_p.E1681E	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1681					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)		TTCATTCAAGCTCTTCAGTTT	0.398													6	215					0	0	1	0	0	T	146207836	C	T	146207836	2	4	6	1	0	0	0	0	0	0	0	1	14346	796	28	2		2	SHPRH	6	146207836	Silent	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	56819708	146207836	24907231	20	474											
SYNE1	23345	broad.mit.edu	37	chr6	152469332	152469332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatggagtccacactagccGgggtgtctcgtcctgaccgc	14	13	1	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:152469332G>A	ENST00000367255.5	-	137	25425	c.24824C>T	c.(24823-24825)cCg>cTg	p.P8275L	SYNE1_ENST00000448038.1_Missense_Mutation_p.P8204L|SYNE1_ENST00000539504.1_Missense_Mutation_p.P430L|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.P430L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P8275L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P8204L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P7887L|SYNE1_ENST00000356820.4_Missense_Mutation_p.P2799L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8275					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)		CACACTAGCCGGGGTGTCTCG	0.617										HNSCC(10;0.0054)			6	253					0	0	1	0	0	A	152469332	G	A	152469332	3	1	6	1	0	0	0	0	1	0	0	0	15502	1116	39	1	1682	1	SYNE1	6	152469332	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	6261496	152469332	18645735	21	475											
SDK1	221935	broad.mit.edu	37	chr7	4153009	4153009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcaggccccacccgacGtggctccaaccagcgtcacg	10	20	1	0	rs149058628	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:4153009G>A	ENST00000404826.2	+	24	3662	c.3523G>A	c.(3523-3525)Gtg>Atg	p.V1175M	SDK1_ENST00000389531.3_Missense_Mutation_p.V1175M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1175	Fibronectin type-III 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)		CCCACCCGACGTGGCTCCAAC	0.612													291	959					0	0	1	0	0	A	4153009	G	A	4153009	3	1	6	1	0	0	0	0	1	0	0	0	14022	1145	40	1	3617	1	SDK1	7	4153009	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08		4153009	154985654	22	476											
OCM	654231	broad.mit.edu	37	chr7	5923595	5923595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtccttgatggctgcggCggataatgatggagatggga	16	6	0	3			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:5923595C>T	ENST00000242104.5	+	3	361	c.269C>T	c.(268-270)gCg>gTg	p.A90V	OCM_ENST00000416608.1_Missense_Mutation_p.A90V	NM_001097622.1	NP_001091091.1	P0CE72	ONCO_HUMAN	oncomodulin	90	EF-hand 2.						calcium ion binding			endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		ATGGCTGCGGCGGATAATGAT	0.498													7	129					0	0	1	0	0	T	5923595	C	T	5923595	3	4	6	1	0	0	0	0	1	0	0	0	10869	768	27	1	279	1	OCM	7	5923595	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	1770586	5923595	153215068	23	477											
GLI3	2737	broad.mit.edu	37	chr7	42005706	42005706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcggctgcaggtggcgccGcccgtagccgtgggctcccc	17	16	0	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:42005706G>A	ENST00000395925.3	-	15	3049	c.2965C>T	c.(2965-2967)Cgg>Tgg	p.R989W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	989					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						AGGTGGCGCCGCCCGTAGCCG	0.766									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				12	60					0	0	1	0	0	A	42005706	G	A	42005706	3	1	6	1	0	0	0	0	1	0	0	0	6481	1086	38	1	1781	1	GLI3	7	42005706	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	36082111	42005706	117132957	24	478											
HECW1	23072	broad.mit.edu	37	chr7	43540839	43540839	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaagagattatgtcctaCgtccccctgcaggctgcctt	10	12	0	2			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:43540839C>T	ENST00000395891.1	+	21	4154	c.3549C>T	c.(3547-3549)taC>taT	p.Y1183Y	HECW1_ENST00000453890.1_Silent_p.Y1149Y	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1183					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						TTATGTCCTACGTCCCCCTGC	0.438													46	379					0	0	1	0	0	T	43540839	C	T	43540839	2	4	6	1	0	0	0	0	0	0	0	1	7083	547	19	1		1	HECW1	7	43540839	Silent	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	1535133	43540839	115597824	25	479											
TNFRSF10C	8794	broad.mit.edu	37	chr8	22960677	22960677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagttcgtcgtcgtcatcGtcgcggtcctgctgccagtg	12	12	1	0	rs147367612	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr8:22960677G>A	ENST00000356864.3	+	1	575	c.43G>A	c.(43-45)Gtc>Atc	p.V15I	TNFRSF10C_ENST00000397703.2_Missense_Mutation_p.V55I|TNFRSF10C_ENST00000540813.1_5'UTR|TNFRSF10C_ENST00000520607.1_Intron	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	15					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CGTCGTCATCGTCGCGGTCCT	0.701													6	60					0	0	1	0	0	A	22960677	G	A	22960677	3	1	6	1	0	0	0	0	1	0	0	0	16342	1145	40	1	45	1	TNFRSF10C	8	22960677	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08		22960677	123403345	26	480											
GNE	10020	broad.mit.edu	37	chr9	36217507	36217507	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtctttgacaatgtggataTagtgactggccaggactccg	12	9	1	2			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr9:36217507T>C	ENST00000396594.3	-	12	2228	c.2117A>G	c.(2116-2118)tAt>tGt	p.Y706C	GNE_ENST00000543356.2_Missense_Mutation_p.Y670C|GNE_ENST00000539208.1_Missense_Mutation_p.Y565C|GNE_ENST00000447283.2_Missense_Mutation_p.Y601C|GNE_ENST00000377902.5_Missense_Mutation_p.Y675C|GNE_ENST00000539815.1_Missense_Mutation_p.Y675C	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	675	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)			AATGTGGATATAGTGACTGGC	0.552													8	229					0	0	1	0	0	C	36217507	T	C	36217507	3	2	6	1	0	0	0	0	1	0	0	0	6564	1406	49	3	148	3	GNE	9	36217507	Missense_Mutation	SNP	T	TCGA-FZ-5919-01A-11D-1609-08		36217507	104995924	27	481											
GRHPR	9380	broad.mit.edu	37	chr9	37424907	37424908	+	Frame_Shift_Ins	INS	-	-	G													gagctagagcgaggtgtggcINSgggggcccacggcctgctct					rs150805048		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr9:37424907_37424908insG	ENST00000607784.1	+	2	154_155	c.149_150insG	c.(148-150)gggfs	p.G50fs	GRHPR_ENST00000318158.6_Frame_Shift_Ins_p.G50fs|GRHPR_ENST00000493368.1_3'UTR			Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	50					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)		CGAGGTGTGGCGGGGGCCCACG	0.658													10	330	---	---	---	---						G	37424908	-	G	37424907	7	5	6	1	0	1	1	0	0	0	0	0	6807	768	27	0	155	0	GRHPR	9	37424907	Frame_Shift_Ins	INS	-	TCGA-FZ-5919-01A-11D-1609-08	1207400	37424907	103788524	28	482											
ZNF618	114991	broad.mit.edu	37	chr9	116812071	116812071	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagatcatcggcaaggtctGtgagctcatcaacgaggtga	14	8	4	3			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr9:116812071G>T	ENST00000288466.7	+	14	2309	c.2210G>T	c.(2209-2211)tGt>tTt	p.C737F	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.C830F	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	830					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GGCAAGGTCTGTGAGCTCATC	0.652													57	251					4.96213e-28	5.55169e-28	1	1	0	T	116812071	G	T	116812071	3	4	6	1	0	0	0	0	1	0	0	0	18099	1377	48	2	2264	2	ZNF618	9	116812071	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	79387164	116812071	24401360	29	483											
PCDH15	65217	broad.mit.edu	37	chr10	55582841	55582842	+	Frame_Shift_Ins	INS	-	-	A													ttgggtgaaaatgggtctacINSaaaatctgttctctgtgaaa							TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr10:55582841_55582842insA	ENST00000361849.3	-	34	5044_5045	c.4650_4651insT	c.(4648-4653)tttagafs	p.R1551fs	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Frame_Shift_Ins_p.R1546fs|PCDH15_ENST00000395433.1_Frame_Shift_Ins_p.R1526fs|PCDH15_ENST00000320301.6_Frame_Shift_Ins_p.R1549fs|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000437009.1_Frame_Shift_Ins_p.R1480fs|PCDH15_ENST00000395432.2_Frame_Shift_Ins_p.R1509fs	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	1549					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)				AATGGGTCTACAAAATCTGTTC	0.411										HNSCC(58;0.16)			61	752	---	---	---	---						A	55582842	-	A	55582841	7	5	6	1	0	1	1	0	0	0	0	0	11558	478	17	0	2832	0	PCDH15	10	55582841	Frame_Shift_Ins	INS	-	TCGA-FZ-5919-01A-11D-1609-08		55582841	79951906	30	484											
MKI67	4288	broad.mit.edu	37	chr10	129904534	129904535	+	Frame_Shift_Ins	INS	-	-	T													ttgcggagatttgcagagtaINStttttttggtagttttctca							TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr10:129904534_129904535insT	ENST00000368654.3	-	13	5944_5945	c.5569_5570insA	c.(5569-5571)actfs	p.T1857fs	MKI67_ENST00000368653.3_Frame_Shift_Ins_p.T1497fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1857	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)				TTTGCAGAGTATTTTTTTGGTA	0.48													7	1379	---	---	---	---						T	129904535	-	T	129904534	7	5	6	1	0	1	1	0	0	0	0	0	9646	449	16	0	4212	0	MKI67	10	129904534	Frame_Shift_Ins	INS	-	TCGA-FZ-5919-01A-11D-1609-08	74321693	129904534	5630213	31	485											
DCHS1	8642	broad.mit.edu	37	chr11	6652947	6652947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcacagtgcctgtggtgCtgcggggtgggctccctcca	15	13	0	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:6652947C>T	ENST00000299441.3	-	7	3986	c.3575G>A	c.(3574-3576)aGc>aAc	p.S1192N	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1192	Cadherin 11.				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)		GCCTGTGGTGCTGCGGGGTGG	0.617													5	93					0	0	1	0	0	T	6652947	C	T	6652947	3	4	6	1	0	0	0	0	1	0	0	0	4310	797	28	2	6381	2	DCHS1	11	6652947	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08		6652947	128353569	32	486											
SLC6A5	9152	broad.mit.edu	37	chr11	20673951	20673951	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctgttccgtcatctggatCccaattatgtttgtgataaa	8	9	2	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:20673951C>T	ENST00000525748.1	+	15	2460	c.2187C>T	c.(2185-2187)atC>atT	p.I729I	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	729					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)	TCATCTGGATCCCAATTATGT	0.488													25	770					0	0	1	0	0	T	20673951	C	T	20673951	2	4	6	1	0	0	0	0	0	0	0	1	14742	845	30	2		2	SLC6A5	11	20673951	Silent	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	14021004	20673951	114332565	33	487											
SVIP	258010	broad.mit.edu	37	chr11	22849412	22849412	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgcaagctttgctctTttctcttcctaaataaatgt	5	11	3	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:22849412T>G	ENST00000354193.4	-	2	179	c.63A>C	c.(61-63)aaA>aaC	p.K21N	SVIP_ENST00000533774.1_5'UTR	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN	small VCP/p97-interacting protein	21						Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						GCTTTGCTCTTTTCTCTTCCT	0.274													12	221					0	0	1	0	0	G	22849412	T	G	22849412	3	3	6	1	0	0	0	0	1	0	0	0	15478	1838	64	3	182	3	SVIP	11	22849412	Missense_Mutation	SNP	T	TCGA-FZ-5919-01A-11D-1609-08	2175461	22849412	112157104	34	488											
AMBRA1	55626	broad.mit.edu	37	chr11	46568662	46568662	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatcttaaggaaatactcaCgtgtaaatcccaaatcctaa	5	9	2	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:46568662C>T	ENST00000458649.2	-	4	797		c.e4+1		AMBRA1_ENST00000426438.1_Splice_Site|AMBRA1_ENST00000314845.3_Splice_Site|AMBRA1_ENST00000534300.1_Splice_Site|AMBRA1_ENST00000533727.1_Splice_Site|AMBRA1_ENST00000298834.3_Splice_Site|AMBRA1_ENST00000528950.1_Splice_Site			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1						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)		GAAATACTCACGTGTAAATCC	0.463													6	347					0	0	1	0	0	T	46568662	C	T	46568662	5	4	6	1	0	0	0	0	0	0	1	0	561	550	19	1	3311	1	AMBRA1	11	46568662	Splice_Site	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	23719250	46568662	88437854	35	489											
SPTBN2	6712	broad.mit.edu	37	chr11	66454976	66454976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctgctcctgggcagatGgctctgggcctcgaggcggc	15	14	2	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:66454976G>A	ENST00000533211.1	-	35	6975	c.6644C>T	c.(6643-6645)cCa>cTa	p.P2215L	SPTBN2_ENST00000529997.1_Missense_Mutation_p.P2215L|SPTBN2_ENST00000309996.2_Missense_Mutation_p.P2215L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2215					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						CTGGGCAGATGGCTCTGGGCC	0.667													56	506					0	0	1	0	0	A	66454976	G	A	66454976	3	1	6	1	0	0	0	0	1	0	0	0	15176	1348	47	2	544	2	SPTBN2	11	66454976	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	19886314	66454976	68551540	36	490											
YAP1	10413	broad.mit.edu	37	chr11	101984938	101984938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgttcgagctcattcctctCcagcttctctgcagttggga	9	12	3	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:101984938C>T	ENST00000282441.5	+	2	773	c.385C>T	c.(385-387)Cca>Tca	p.P129S	YAP1_ENST00000526343.1_Missense_Mutation_p.P129S|YAP1_ENST00000345877.2_Missense_Mutation_p.P129S|YAP1_ENST00000531439.1_Missense_Mutation_p.P129S|YAP1_ENST00000537274.1_Missense_Mutation_p.P129S|YAP1_ENST00000524575.1_5'UTR	NM_001130145.2	NP_001123617.1	P46937	YAP1_HUMAN	Yes-associated protein 1	129					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)		TCATTCCTCTCCAGCTTCTCT	0.507													10	295					0	0	1	0	0	T	101984938	C	T	101984938	3	4	6	1	0	0	0	0	1	0	0	0	17526	855	30	2	391	2	YAP1	11	101984938	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	35529962	101984938	33021578	37	491											
PTPRO	5800	broad.mit.edu	37	chr12	15673188	15673188	+	Silent	SNP	G	G	A													aacttccgggttaccatggtGacgtggggagatccagaatt							TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:15673188G>A	ENST00000281171.4	+	10	2163	c.1833G>A	c.(1831-1833)gtG>gtA	p.V611V	PTPRO_ENST00000348962.2_Silent_p.V611V	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	611						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)				TTACCATGGTGACGTGGGGAG	0.483													121	463					0	0	1	0	0	A	15673188	G	A	15673188	2	1	6	1	0	0	0	0	0	0	0	1	12861	1277	45	2		2	PTPRO	12	15673188	Silent	SNP	G	TCGA-FZ-5919-01A-11D-1609-08		15673188	118178707	38	492	7	2									
PTPRO	5800	broad.mit.edu	37	chr12	15673198	15673198	+	Missense_Mutation	SNP	G	G	C													ttaccatggtgacgtggggaGatccagaattgagctgctgt							TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:15673198G>C	ENST00000281171.4	+	10	2173	c.1843G>C	c.(1843-1845)Gat>Cat	p.D615H	PTPRO_ENST00000348962.2_Missense_Mutation_p.D615H	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	615						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)				GACGTGGGGAGATCCAGAATT	0.478													107	452					0	0	1	0	0	C	15673198	G	C	15673198	3	2	6	1	0	0	0	0	1	0	0	0	12861	942	33	5	1881	5	PTPRO	12	15673198	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	10	15673198	118178697	39	493	7	2									
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-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	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)			21	117					0	0	1	0	0	T	25398284	C	T	25398284	3	4	6	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	9725086	25398284	108453611	40	494											
COL2A1	1280	broad.mit.edu	37	chr12	48372412	48372412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctccaggctctcccttctCgccagggggtccagcaggac	11	16	3	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:48372412C>T	ENST00000380518.3	-	42	3027	c.2863G>A	c.(2863-2865)Gag>Aag	p.E955K	COL2A1_ENST00000337299.6_Missense_Mutation_p.E886K|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	955	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)	TCTCCCTTCTCGCCAGGGGGT	0.637													24	241					0	0	1	0	0	T	48372412	C	T	48372412	3	4	6	1	0	0	0	0	1	0	0	0	3710	893	31	1	1652	1	COL2A1	12	48372412	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	22974128	48372412	85479483	41	495											
KRT7	3855	broad.mit.edu	37	chr12	52639214	52639214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgccaagttggaggccGccattgccgaggctgaggag	17	10	0	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:52639214G>A	ENST00000331817.5	+	7	1186	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	KRT7_ENST00000552322.1_3'UTR|RP3-416H24.1_ENST00000546686.1_RNA	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	335	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)		GTTGGAGGCCGCCATTGCCGA	0.657													4	134					0	0	1	0	0	A	52639214	G	A	52639214	3	1	6	1	0	0	0	0	1	0	0	0	8526	1087	38	1	1029	1	KRT7	12	52639214	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	4266802	52639214	81212681	42	496											
AVIL	10677	broad.mit.edu	37	chr12	58207947	58207947	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcaccgagaggatgacGtagcagtccccctcatagaa	11	12	2	3	rs141365699		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:58207947G>A	ENST00000537081.1	-	2	107	c.108C>T	c.(106-108)taC>taT	p.Y36Y	AVIL_ENST00000257861.3_Silent_p.Y43Y			O75366	AVIL_HUMAN	advillin	43	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)					AGAGGATGACGTAGCAGTCCC	0.607													8	111					0	0	1	0	0	A	58207947	G	A	58207947	2	1	6	1	0	0	0	0	0	0	0	1	1225	1140	40	1		1	AVIL	12	58207947	Silent	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	5568733	58207947	75643948	43	497											
CPM	1368	broad.mit.edu	37	chr12	69260780	69260780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagcatgacagctccaacGtaatttcaaaacactgggcc	7	12	1	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:69260780G>A	ENST00000551568.1	-	7	896	c.836C>T	c.(835-837)aCg>aTg	p.T279M	CPM_ENST00000546373.1_Missense_Mutation_p.T279M|CPM_ENST00000338356.3_Missense_Mutation_p.T279M	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	279					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CAGCTCCAACGTAATTTCAAA	0.383													50	404					0	0	1	0	0	A	69260780	G	A	69260780	3	1	6	1	0	0	0	0	1	0	0	0	3831	1145	40	1	507	1	CPM	12	69260780	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	11052833	69260780	64591115	44	498											
APAF1	317	broad.mit.edu	37	chr12	99071230	99071230	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaacatcacgaatctttcCcgcttagttgtccgccccca	5	15	2	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:99071230C>A	ENST00000357310.1	+	13	2398	c.1821C>A	c.(1819-1821)tcC>tcA	p.S607S	APAF1_ENST00000547045.1_Silent_p.S607S|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000550527.1_Silent_p.S596S|APAF1_ENST00000359972.2_Silent_p.S596S|APAF1_ENST00000551964.1_Silent_p.S607S|APAF1_ENST00000549007.1_Silent_p.S607S|APAF1_ENST00000339433.3_Silent_p.S607S|APAF1_ENST00000333991.1_Intron	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	607					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)	CGAATCTTTCCCGCTTAGTTG	0.368													11	319					0.0692343	0.0704818	1	1	0	A	99071230	C	A	99071230	2	1	6	1	0	0	0	0	0	0	0	1	751	610	22	2		2	APAF1	12	99071230	Silent	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	29810450	99071230	34780665	45	499											
GOLGA2B	0	broad.mit.edu	37	chr12	100559710	100559710	+	RNA	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcccctccccagaggctggTgcccgccttccagctcttct	8	20	2	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:100559710T>G	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						CAGAGGCTGGTGCCCGCCTTC	0.602													9	70					0	0	1	0	0	G	100559710	T	G	100559710	1	3	6	0	1	0	0	0	0	0	0	0	6595	1711	59	3		3	GOLGA2B	12	100559710	RNA	SNP	T	TCGA-FZ-5919-01A-11D-1609-08	1488480	100559710	33292185	46	500											
ATP2A2	488	broad.mit.edu	37	chr12	110765385	110765385	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acattgctgctgggaaagctAtgggagtggtggtagcaact	15	6	0	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:110765385A>G	ENST00000395494.2	+	7	1140	c.577A>G	c.(577-579)Atg>Gtg	p.M193V	ATP2A2_ENST00000539276.2_Missense_Mutation_p.M220V|ATP2A2_ENST00000308664.6_Missense_Mutation_p.M220V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	220					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						TGGGAAAGCTATGGGAGTGGT	0.463													32	882					0	0	1	0	0	G	110765385	A	G	110765385	3	3	6	1	0	0	0	0	1	0	0	0	1136	449	16	3	688	3	ATP2A2	12	110765385	Missense_Mutation	SNP	A	TCGA-FZ-5919-01A-11D-1609-08	10205675	110765385	23086510	47	501											
AACS	65985	broad.mit.edu	37	chr12	125612743	125612743	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcttcatgggccacaAtttttctcttcctgtgtata	6	12	2	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:125612743A>C	ENST00000545511.1	+	3	5072	c.85A>C	c.(85-87)Att>Ctt	p.I29L	AACS_ENST00000261686.6_Missense_Mutation_p.N449T|AACS_ENST00000316519.6_Missense_Mutation_p.N449T|AACS_ENST00000316543.10_Missense_Mutation_p.N47T			Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	0					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)		ATGGGCCACAATTTTTCTCTT	0.493													24	133					0	0	1	0	0	C	125612743	A	C	125612743	3	2	6	1	0	0	0	0	1	0	0	0	9	101	4	3	1396	3	AACS	12	125612743	Missense_Mutation	SNP	A	TCGA-FZ-5919-01A-11D-1609-08	14847358	125612743	8239152	48	502											
COG3	83548	broad.mit.edu	37	chr13	46066374	46066374	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaatttttcacaaaaccaacAtcaaaattagagtaggtgga	7	6	2	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr13:46066374A>T	ENST00000349995.5	+	11	1288	c.1176A>T	c.(1174-1176)acA>acT	p.T392T	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	392					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)		CAAAACCAACATCAAAATTAG	0.353													15	158					0	0	1	0	0	T	46066374	A	T	46066374	2	4	6	1	0	0	0	0	0	0	0	1	3682	204	8	5		5	COG3	13	46066374	Silent	SNP	A	TCGA-FZ-5919-01A-11D-1609-08		46066374	69103504	49	503											
PCDH17	27253	broad.mit.edu	37	chr13	58208534	58208534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctagacagcgacttcggCgagagcgggcgtctcaccta	13	14	1	2			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr13:58208534C>T	ENST00000377918.3	+	1	1880	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	618	Cadherin 6.				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)		GCGACTTCGGCGAGAGCGGGC	0.657													8	451					0	0	1	0	0	T	58208534	C	T	58208534	2	4	6	1	0	0	0	0	0	0	0	1	11559	755	27	1		1	PCDH17	13	58208534	Silent	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	12142160	58208534	56961344	50	504											
DCT	1638	broad.mit.edu	37	chr13	95095781	95095781	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggaagaaaggaaccatgttGtacatccgattgtgaccaat	11	7	0	2			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr13:95095781G>T	ENST00000377028.5	-	7	1703	c.1290C>A	c.(1288-1290)taC>taA	p.Y430*	DCT_ENST00000446125.1_Nonsense_Mutation_p.Y463*	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	430					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)		GAACCATGTTGTACATCCGAT	0.463													33	245					1.71298e-08	1.79228e-08	1	1	0	T	95095781	G	T	95095781	4	4	6	1	0	0	0	0	0	1	0	0	4327	1372	48	2	277	2	DCT	13	95095781	Nonsense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	36887247	95095781	20074097	51	505											
GPHN	10243	broad.mit.edu	37	chr14	67576890	67576890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatgccaggacaagtcatgCgggttacaacaggtgctcca	11	10	1	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr14:67576890C>T	ENST00000478722.1	+	14	2448	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	GPHN_ENST00000543237.1_Missense_Mutation_p.R456W|GPHN_ENST00000315266.5_Missense_Mutation_p.R410W|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.R379W	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	410	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)		ACAAGTCATGCGGGTTACAAC	0.453			T	MLL	AL								7	542					0	0	1	0	0	T	67576890	C	T	67576890	3	4	6	1	0	0	0	0	1	0	0	0	6650	759	27	1	1381	1	GPHN	14	67576890	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08		67576890	39772650	52	506											
FLRT2	23768	broad.mit.edu	37	chr14	86089264	86089264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggcatcgttcaggagcGcatagtcagcggtgagaagc	17	8	2	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr14:86089264G>A	ENST00000330753.4	+	2	2173	c.1406G>A	c.(1405-1407)cGc>cAc	p.R469H	FLRT2_ENST00000554746.1_Missense_Mutation_p.R469H	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	469	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)		GTTCAGGAGCGCATAGTCAGC	0.507													9	559					0	0	1	0	0	A	86089264	G	A	86089264	3	1	6	1	0	0	0	0	1	0	0	0	5972	1087	38	1	1408	1	FLRT2	14	86089264	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	18512374	86089264	21260276	53	507											
MEX3B	84206	broad.mit.edu	37	chr15	82335639	82335639	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcgcggcaatcacttcGctctcgaagcacacggagca	10	15	2	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr15:82335639G>A	ENST00000329713.4	-	2	2007	c.1572C>T	c.(1570-1572)agC>agT	p.S524S	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	524					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						CAATCACTTCGCTCTCGAAGC	0.637													21	394					0	0	1	0	0	A	82335639	G	A	82335639	2	1	6	1	0	0	0	0	0	0	0	1	9560	1078	38	1		1	MEX3B	15	82335639	Silent	SNP	G	TCGA-FZ-5919-01A-11D-1609-08		82335639	20195753	54	508											
SEPT12	124404	broad.mit.edu	37	chr16	4836091	4836091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcaccatcgtggacttgCccagcccgctttgccctggg	11	15	1	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr16:4836091C>T	ENST00000268231.8	-	3	445	c.182G>A	c.(181-183)gGc>gAc	p.G61D	SEPT12_ENST00000591861.1_5'UTR|SEPT12_ENST00000396693.5_Missense_Mutation_p.G61D	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	61					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CGTGGACTTGCCCAGCCCGCT	0.522													16	172					0	0	1	0	0	T	4836091	C	T	4836091	3	4	6	1	0	0	0	0	1	0	0	0	14116	739	26	2	926	2	SEPT12	16	4836091	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08		4836091	85518662	55	509											
CDYL2	124359	broad.mit.edu	37	chr16	80667060	80667060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagccttttgtcaaagacGtagtccttctccgcttccag	8	13	2	2			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr16:80667060G>A	ENST00000299564.8	-	3	845	c.690C>T	c.(688-690)taC>taT	p.Y230Y	CDYL2_ENST00000562812.1_Silent_p.Y231Y|CDYL2_ENST00000563890.1_Silent_p.Y231Y|CDYL2_ENST00000566173.1_Silent_p.Y231Y	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	230						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						TGTCAAAGACGTAGTCCTTCT	0.502													22	650					0	0	1	0	0	A	80667060	G	A	80667060	2	1	6	1	0	0	0	0	0	0	0	1	3208	1140	40	1		1	CDYL2	16	80667060	Silent	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	75830969	80667060	9687693	56	510											
TP53	7157	broad.mit.edu	37	chr17	7578413	7578413	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atggtgggggcagcgcctcaCaacctccgtcatgtgctgtg	14	12	2	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:7578413C>G	ENST00000420246.2	-	5	649	c.517G>C	c.(517-519)Gtg>Ctg	p.V173L	TP53_ENST00000359597.4_Missense_Mutation_p.V173L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.V173L|TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000445888.2_Missense_Mutation_p.V173L	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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(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.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)		CAGCGCCTCACAACCTCCGTC	0.662		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)			36	239					0	0	1	0	0	G	7578413	C	G	7578413	3	3	6	1	0	0	0	0	1	0	0	0	16442	478	17	5	781	5	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-FZ-5919-01A-11D-1609-08		7578413	73616797	57	511											
CDK3	1018	broad.mit.edu	37	chr17	73997474	73997474	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggggtgcaaattgcccGgtgccttctgtttcccaggc	14	12	1	0	rs2069528	by1000genomes	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:73997474G>A	ENST00000425876.2	+	0	56				TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Intron			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3						cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						CAAATTGCCCGGTGCCTTCTG	0.622													5	131					0	0	1	0	0	A	73997474	G	A	73997474	1	1	6	1	0	0	0	0	0	0	0	0	3162	1131	39	1		1	CDK3	17	73997474	Translation_Start_Site	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	66419061	73997474	7197736	58	512											
USP36	57602	broad.mit.edu	37	chr17	76800004	76800004	+	Frame_Shift_Del	DEL	T	T	-													tactggacagcaatgtggggTgggggctgaaggggggttgc							TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:76800004delT	ENST00000312010.6	-	16	2597	c.2273delA	c.(2272-2274)ccfs	p.H758fs	USP36_ENST00000449938.2_Frame_Shift_Del_p.H458fs|USP36_ENST00000542802.2_Frame_Shift_Del_p.H758fs	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	758					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)			CAATGTGGGGTGGGGGCTGAA	0.627													7	341	---	---	---	---						-	76800004	T	-	76800004	7	5	6	1	0	1	0	1	0	0	0	0	17127	1696	59	0	1118	0	USP36	17	76800004	Frame_Shift_Del	DEL	T	TCGA-FZ-5919-01A-11D-1609-08	2802530	76800004	4395206	59	513											
CD209	30835	broad.mit.edu	37	chr19	7810584	7810584	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcctggtagatctcctGctgcttagatttctctggaa	9	11	2	2			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:7810584G>A	ENST00000315599.7	-	4	590	c.568C>T	c.(568-570)Cag>Tag	p.Q190*	CD209_ENST00000204801.8_Nonsense_Mutation_p.Q146*|CD209_ENST00000315591.8_Nonsense_Mutation_p.Q166*|CD209_ENST00000601951.1_Nonsense_Mutation_p.Q166*|CD209_ENST00000593821.1_Intron|CD209_ENST00000593660.1_Nonsense_Mutation_p.Q166*|CD209_ENST00000394173.4_Intron|CD209_ENST00000354397.6_Nonsense_Mutation_p.Q190*|CD209_ENST00000301357.8_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000601256.1_Nonsense_Mutation_p.Q166*|CD209_ENST00000602261.1_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	190	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						TAGATCTCCTGCTGCTTAGAT	0.547													43	730					0	0	1	0	0	A	7810584	G	A	7810584	4	1	6	1	0	0	0	0	0	1	0	0	3006	1328	46	2	662	2	CD209	19	7810584	Nonsense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08		7810584	51318399	60	514											
PSG6	5675	broad.mit.edu	37	chr19	43411981	43411981	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggggtttaagttgttgatGgtgatgtaaggcatgggcag	17	3	0	2			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:43411981G>T	ENST00000187910.2	-	4	797	c.732C>A	c.(730-732)acC>acA	p.T244T	PSG6_ENST00000292125.2_Silent_p.T244T|PSG6_ENST00000402603.4_Intron	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)				AGTTGTTGATGGTGATGTAAG	0.478													89	905					4.01556e-35	4.53759e-35	1	1	0	T	43411981	G	T	43411981	2	4	6	1	0	0	0	0	0	0	0	1	12708	1335	47	2		2	PSG6	19	43411981	Silent	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	35601397	43411981	15717002	61	515											
PLEKHA4	0	broad.mit.edu	37	chr19	49355519	49355530	+	In_Frame_Del	DEL	GTCTCTCTTAAG	GTCTCTCTTAAG	-													ggtgcagcaggtactccagcGtctctcttaaggtgcccagc					rs147150671	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:49355519_49355530delGTCTCTCTTAAG	ENST00000263265.6	-	13	1935_1946	c.1380_1391delCTTAAGAGAGAC	c.(1378-1392)acg>ac	p.TLRET460del	PLEKHA4_ENST00000355496.5_In_Frame_Del_p.TLRET435del	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	460						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)		GTACTCCAGCGTCTCTCTTAAGGTGCCCAGCT	0.566													22	464	---	---	---	---						-	49355530	GTCTCTCTTAAG	-	49355519	7	5	6	1	0	1	0	1	0	0	0	0	12106	1145	40	0	980	0	PLEKHA4	19	49355519	In_Frame_Del	DEL	GTCTCTCTTAAG	TCGA-FZ-5919-01A-11D-1609-08	5943538	49355519	9773464	62	516											
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-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:54646728G>A	ENST00000406403.1	+	1	1617	c.14G>A	c.(13-15)cGc>cAc	p.R5H	CNOT3_ENST00000221232.5_Missense_Mutation_p.R5H|CNOT3_ENST00000358389.3_5'UTR			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													8	536					0	0	1	0	0	A	54646728	G	A	54646728	3	1	6	1	0	0	0	0	1	0	0	0	3643	1087	38	1	16	1	CNOT3	19	54646728	Missense_Mutation	SNP	G	TCGA-FZ-5919-01A-11D-1609-08	5291209	54646728	4482255	63	517											
ZNF784	147808	broad.mit.edu	37	chr19	56133798	56133798	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcaccggctcgggtccccAccctgcccgcctccctcggc	11	22	0	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:56133798A>C	ENST00000325351.4	-	2	330	c.291T>G	c.(289-291)ggT>ggG	p.G97G	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	97					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)		TCGGGTCCCCACCCTGCCCGC	0.711													6	57					0	0	1	0	0	C	56133798	A	C	56133798	2	2	6	1	0	0	0	0	0	0	0	1	18205	146	6	3		3	ZNF784	19	56133798	Silent	SNP	A	TCGA-FZ-5919-01A-11D-1609-08	1487070	56133798	2995185	64	518											
FERMT1	55612	broad.mit.edu	37	chr20	6093196	6093196	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgggttccttattattttTgtcttttttcttcttcttct	4	7	5	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr20:6093196T>G	ENST00000217289.4	-	4	1248	c.460A>C	c.(460-462)Aaa>Caa	p.K154Q	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	154	FERM.|Poly-Lys.				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						TTATTATTTTTGTCTTTTTTC	0.318													26	526					0	0	1	0	0	G	6093196	T	G	6093196	3	3	6	1	0	0	0	0	1	0	0	0	5850	1821	63	3	1621	3	FERMT1	20	6093196	Missense_Mutation	SNP	T	TCGA-FZ-5919-01A-11D-1609-08		6093196	56932324	65	519											
TTLL9	164395	broad.mit.edu	37	chr20	30526969	30526969	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgggaagggagaagcgagtCgggggctttgacctcatgtg	18	7	1	2			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr20:30526969C>T	ENST00000375938.4	+	14	1396	c.1143C>T	c.(1141-1143)gtC>gtT	p.V381V	TTLL9_ENST00000375922.4_Intron|TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000535842.1_Silent_p.V381V|TTLL9_ENST00000375921.2_3'UTR			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	381					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)			AGAAGCGAGTCGGGGGCTTTG	0.577													43	395					0	0	1	0	0	T	30526969	C	T	30526969	2	4	6	1	0	0	0	0	0	0	0	1	16796	871	31	1		1	TTLL9	20	30526969	Silent	SNP	C	TCGA-FZ-5919-01A-11D-1609-08	24433773	30526969	32498551	66	520											
BCOR	54880	broad.mit.edu	37	chrX	39933048	39933048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttgccattgttctcttcGttaggacttggcccgggcac	10	12	1	0			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chrX:39933048G>A	ENST00000342274.4	-	4	1913	c.1551C>T	c.(1549-1551)aaC>aaT	p.N517N	BCOR_ENST00000397354.3_Silent_p.N517N|BCOR_ENST00000378444.4_Silent_p.N517N|BCOR_ENST00000378455.4_Silent_p.N517N	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	517					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.N517N(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						TGTTCTCTTCGTTAGGACTTG	0.527			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						11	330					0	0	1	0	0	A	39933048	G	A	39933048	2	1	6	1	0	0	0	0	0	0	0	1	1384	1136	40	1		1	BCOR	23	39933048	Silent	SNP	G	TCGA-FZ-5919-01A-11D-1609-08		39933048	115337512	67	521											
MAGT1	84061	broad.mit.edu	37	chrX	77112307	77112307	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagatacacaagtccaccaaTaacagccaaaagcaatccca	4	13	0	1			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chrX:77112307T>A	ENST00000358075.6	-	5	777	c.691A>T	c.(691-693)Att>Ttt	p.I231F		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	199					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						AGTCCACCAATAACAGCCAAA	0.363													34	482					0	0	1	0	0	A	77112307	T	A	77112307	3	1	6	1	0	0	0	0	1	0	0	0	9246	1406	49	5	436	5	MAGT1	23	77112307	Missense_Mutation	SNP	T	TCGA-FZ-5919-01A-11D-1609-08	37179259	77112307	78158253	68	522											
PLXNA3	55558	broad.mit.edu	37	chrX	153688565	153688565	+	Frame_Shift_Del	DEL	G	G	-													ctgctgctcttccttgccgtGgggggggccctgggcaacag							TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chrX:153688565delG	ENST00000369682.3	+	2	217	c.42delG	c.(40-42)gtfs	p.V14fs		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	14					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.A17fs*39(1)		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)					TCCTTGCCGTGGGGGGGGCCC	0.682													8	689	---	---	---	---						-	153688565	G	-	153688565	7	5	6	1	0	1	0	1	0	0	0	0	12169	1335	47	0	44	0	PLXNA3	23	153688565	Frame_Shift_Del	DEL	G	TCGA-FZ-5919-01A-11D-1609-08	76576258	153688565	1581995	69	523											
MUL1	79594	broad.mit.edu	37	chr1	20827710	20827710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttggatgcctttgggccGctcaccgctgatgtagtggc	13	12	2	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:20827710G>A	ENST00000264198.3	-	4	668	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	178					activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.R178W(1)		endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCTTTGGGCCGCTCACCGCTG	0.582													8	702					0	0	1	0	0	A	20827710	G	A	20827710	3	1	7	1	0	0	0	0	1	0	0	0	10032	1086	38	1	530	1	MUL1	1	20827710	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08		20827710	228422911	1	524											
CSMD2	114784	broad.mit.edu	37	chr1	34068135	34068135	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttggaagaagtgatgttccCgccacaagggactgccaggg	15	9	0	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:34068135C>A	ENST00000373381.4	-	43	6720	c.6544G>T	c.(6544-6546)Ggg>Tgg	p.G2182W	CSMD2_ENST00000373377.1_Missense_Mutation_p.G281W|CSMD2_ENST00000373388.2_Missense_Mutation_p.G281W|CSMD2_ENST00000373380.1_Missense_Mutation_p.G1055W	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2184	CUB 13.					integral to membrane|plasma membrane	protein binding	p.G2184W(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)				GTGATGTTCCCGCCACAAGGG	0.592													4	58					0.150653	0.151446	1	1	0	A	34068135	C	A	34068135	3	1	7	1	0	0	0	0	1	0	0	0	3970	652	23	4	4017	4	CSMD2	1	34068135	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	13240425	34068135	215182486	2	525											
HHIPL2	79802	broad.mit.edu	37	chr1	222716971	222716971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttcttcttgtccaggcaCgaataataaatatagaactt	5	9	2	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:222716971C>T	ENST00000343410.6	-	2	940	c.882G>A	c.(880-882)tcG>tcA	p.S294S		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	294					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)		TGTCCAGGCACGAATAATAAA	0.473													393	1597					0	0	1	0	0	T	222716971	C	T	222716971	2	4	7	1	0	0	0	0	0	0	0	1	7135	523	19	1		1	HHIPL2	1	222716971	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	188648836	222716971	26533650	3	526											
OR6F1	343169	broad.mit.edu	37	chr1	247875276	247875276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcatctttgatagaggtgCggacgtgaaggaaaactgtg	15	5	1	3	rs149671274	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:247875276C>T	ENST00000302084.2	-	1	829	c.782G>A	c.(781-783)cGc>cAc	p.R261H	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			GATAGAGGTGCGGACGTGAAG	0.517													99	515					0	0	1	0	0	T	247875276	C	T	247875276	3	4	7	1	0	0	0	0	1	0	0	0	11248	768	27	1	148	1	OR6F1	1	247875276	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	25158305	247875276	1375345	4	527											
HEATR5B	54497	broad.mit.edu	37	chr2	37259800	37259801	+	Frame_Shift_Ins	INS	-	-	T													tgctctctttgtcccctgtaINSttttttgccaggctcatggc							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:37259800_37259801insT	ENST00000233099.5	-	22	3427_3428	c.3332_3333insA	c.(3331-3333)aacfs	p.N1111fs	HEATR5B_ENST00000354531.2_Frame_Shift_Ins_p.N1111fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1111							binding	p.N1111K(1)		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)				TGTCCCCTGTATTTTTTGCCAG	0.386													62	515	---	---	---	---						T	37259801	-	T	37259800	7	5	7	1	0	1	1	0	0	0	0	0	7073	446	16	0	2942	0	HEATR5B	2	37259800	Frame_Shift_Ins	INS	-	TCGA-FZ-5920-01A-11D-1609-08		37259800	205939573	5	528											
SOS1	6654	broad.mit.edu	37	chr2	39213243	39213243	+	Frame_Shift_Del	DEL	T	T	-													gaaggcattgccatggtcacTttttttgcccaaagggggag							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:39213243delT	ENST00000426016.1	-	24	3810	c.3724delA	c.(3724-3726)gtfs	p.S1242fs	SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1242					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)				CCATGGTCACTTTTTTTGCCC	0.517									Noonan syndrome				8	608	---	---	---	---						-	39213243	T	-	39213243	7	5	7	1	0	1	0	1	0	0	0	0	14990	1609	56	0	281	0	SOS1	2	39213243	Frame_Shift_Del	DEL	T	TCGA-FZ-5920-01A-11D-1609-08	1953443	39213243	203986130	6	529											
OTX1	5013	broad.mit.edu	37	chr2	63283271	63283271	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcaggccaccaccaccaCcatcaccaccaccaccacca	2	24	2	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:63283271C>T	ENST00000366671.3	+	5	1161	c.885C>T	c.(883-885)caC>caT	p.H295H	OTX1_ENST00000282549.2_Silent_p.H295H	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	295	His-rich.					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)					accaccaccaccatcaccacc	0.637													6	441					0	0	1	0	0	T	63283271	C	T	63283271	2	4	7	1	0	0	0	0	0	0	0	1	11367	506	18	2		2	OTX1	2	63283271	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	24070028	63283271	179916102	7	530											
UGP2	7360	broad.mit.edu	37	chr2	64084969	64084969	+	Frame_Shift_Del	DEL	A	A	-													ttctattttcacagcacaccAaaaaagacctggatggattt							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:64084969delA	ENST00000337130.5	+	3	630	c.154delA	c.(154-156)aafs	p.K53fs	UGP2_ENST00000487469.1_Intron|UGP2_ENST00000467648.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000445915.2_Frame_Shift_Del_p.K62fs|UGP2_ENST00000394417.2_Frame_Shift_Del_p.K42fs	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	53					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						ACAGCACACCAAAAAAGACCT	0.358													7	1782	---	---	---	---						-	64084969	A	-	64084969	7	5	7	1	0	1	0	1	0	0	0	0	17003	131	5	0	164	0	UGP2	2	64084969	Frame_Shift_Del	DEL	A	TCGA-FZ-5920-01A-11D-1609-08	801698	64084969	179114404	8	531											
ZRANB3	84083	broad.mit.edu	37	chr2	136071117	136071117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccatgactgtctccatgGcacctgaatttggagttctc	8	13	2	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:136071117G>A	ENST00000401392.1	-	8	1120	c.908C>T	c.(907-909)gCc>gTc	p.A303V	ZRANB3_ENST00000536680.1_Missense_Mutation_p.A303V|ZRANB3_ENST00000264159.6_Missense_Mutation_p.A303V			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	303						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)		TGTCTCCATGGCACCTGAATT	0.373													84	706					0	0	1	0	0	A	136071117	G	A	136071117	3	1	7	1	0	0	0	0	1	0	0	0	18266	1203	42	2	2387	2	ZRANB3	2	136071117	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	71986148	136071117	107128256	9	532											
ZEB2	9839	broad.mit.edu	37	chr2	145147456	145147456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattcatgtgctgcgagtaCgagcccgagtgtgagaagcg	15	8	1	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:145147456C>T	ENST00000558170.2	-	10	4391	c.3207G>A	c.(3205-3207)tcG>tcA	p.S1069S	ZEB2_ENST00000409487.3_Silent_p.S1069S|ZEB2_ENST00000539609.3_Silent_p.S1045S|ZEB2_ENST00000303660.4_Silent_p.S1069S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1069						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)		GCTGCGAGTACGAGCCCGAGT	0.577													55	432					0	0	1	0	0	T	145147456	C	T	145147456	2	4	7	1	0	0	0	0	0	0	0	1	17682	523	19	1		1	ZEB2	2	145147456	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	9076339	145147456	98051917	10	533											
ZEB2	9839	broad.mit.edu	37	chr2	145156919	145156919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcatgaggctgcaggaccGccttgatctcttcattcatc	8	12	4	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:145156919G>A	ENST00000558170.2	-	8	3019	c.1835C>T	c.(1834-1836)gCg>gTg	p.A612V	ZEB2_ENST00000409487.3_Missense_Mutation_p.A612V|ZEB2_ENST00000539609.3_Missense_Mutation_p.A588V|ZEB2_ENST00000303660.4_Missense_Mutation_p.A612V	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	612						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)		CTGCAGGACCGCCTTGATCTC	0.433													48	483					0	0	1	0	0	A	145156919	G	A	145156919	3	1	7	1	0	0	0	0	1	0	0	0	17682	1087	38	1	1821	1	ZEB2	2	145156919	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	9463	145156919	98042454	11	534											
FKBP7	51661	broad.mit.edu	37	chr2	179343164	179343164	+	Frame_Shift_Del	DEL	A	A	-													ttcttttgtctctgagcagtAaaaaggccccacagataaaa							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:179343164delA	ENST00000424785.2	-	1	121	c.63delT	c.(61-63)ttfs	p.F21fs	FKBP7_ENST00000434643.2_Frame_Shift_Del_p.F21fs|FKBP7_ENST00000464248.1_5'UTR	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	21					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)			TCTGAGCAGTAAAAAGGCCCC	0.448													9	1413	---	---	---	---						-	179343164	A	-	179343164	7	5	7	1	0	1	0	1	0	0	0	0	5946	359	13	0	621	0	FKBP7	2	179343164	Frame_Shift_Del	DEL	A	TCGA-FZ-5920-01A-11D-1609-08	34186245	179343164	63856209	12	535											
TTN	7273	broad.mit.edu	37	chr2	179614364	179614364	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attttcgaattgactattttCtctataagtgacaggctcca	6	8	1	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:179614364C>A	ENST00000360870.5	-	46	12985	c.12763G>T	c.(12763-12765)Gaa>Taa	p.E4255*	TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	406							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)			TGACTATTTTCTCTATAAGTG	0.353													57	456					1.25972e-11	1.34417e-11	1	1	0	A	179614364	C	A	179614364	4	1	7	1	0	0	0	0	0	1	0	0	16797	922	32	2	97534	2	TTN	2	179614364	Nonsense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	271200	179614364	63585009	13	536											
DNAH7	56171	broad.mit.edu	37	chr2	196729627	196729627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcattatcaaaatccaaaCgctgaaaaagctcatgaaaa	4	9	3	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:196729627C>T	ENST00000312428.6	-	41	6852	c.6752G>A	c.(6751-6753)cGt>cAt	p.R2251H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2251					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						AAAATCCAAACGCTGAAAAAG	0.403													168	592					0	0	1	0	0	T	196729627	C	T	196729627	3	4	7	1	0	0	0	0	1	0	0	0	4633	536	19	1	5422	1	DNAH7	2	196729627	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	17115263	196729627	46469746	14	537											
CHL1	10752	broad.mit.edu	37	chr3	433473	433473	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actggctatcttttgcaataTcagataagtaagtagaaatt	7	5	2	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:433473T>A	ENST00000256509.2	+	23	3549	c.2907T>A	c.(2905-2907)taT>taA	p.Y969*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.Y953*	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	953	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.Y969Y(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)		TTTTGCAATATCAGATAAGTA	0.318													30	350					0	0	1	0	0	A	433473	T	A	433473	4	1	7	1	0	0	0	0	0	1	0	0	3371	1442	50	5	2989	5	CHL1	3	433473	Nonsense_Mutation	SNP	T	TCGA-FZ-5920-01A-11D-1609-08		433473	197588957	15	538											
LMCD1	29995	broad.mit.edu	37	chr3	8607273	8607273	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacttctggaaggatggtgcAccctggtgcggccgccatta	13	11	1	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:8607273A>C	ENST00000157600.3	+	5	1111	c.879A>C	c.(877-879)gcA>gcC	p.A293A	LMCD1_ENST00000397386.3_Silent_p.A181A|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000454244.1_Silent_p.A220A	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	293	LIM zinc-binding 1.				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)		AGGATGGTGCACCCTGGTGCG	0.632													25	141					0	0	1	0	0	C	8607273	A	C	8607273	2	2	7	1	0	0	0	0	0	0	0	1	8885	146	6	3		3	LMCD1	3	8607273	Silent	SNP	A	TCGA-FZ-5920-01A-11D-1609-08	8173800	8607273	189415157	16	539											
RBM5	10181	broad.mit.edu	37	chr3	50141711	50141711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaatttcaggaaaagactaAaatgcttccgatgtggagca	9	7	1	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:50141711A>G	ENST00000347869.3	+	8	773	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	200					apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAAAAGACTAAAATGCTTCCG	0.398													57	201					0	0	1	0	0	G	50141711	A	G	50141711	3	3	7	1	0	0	0	0	1	0	0	0	13195	15	1	3	624	3	RBM5	3	50141711	Missense_Mutation	SNP	A	TCGA-FZ-5920-01A-11D-1609-08	41534438	50141711	147880719	17	540											
PTPRG	5793	broad.mit.edu	37	chr3	61975386	61975386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacattttagaccagtatgCgcgtgttggggaagaatacc	12	7	0	3			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:61975386C>T	ENST00000474889.1	+	3	655	c.278C>T	c.(277-279)gCg>gTg	p.A93V	PTPRG_ENST00000295874.10_Missense_Mutation_p.A93V	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	93	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)		GACCAGTATGCGCGTGTTGGG	0.488													6	387					0	0	1	0	0	T	61975386	C	T	61975386	3	4	7	1	0	0	0	0	1	0	0	0	12854	768	27	1	288	1	PTPRG	3	61975386	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	11833675	61975386	136047044	18	541											
SAMD7	344658	broad.mit.edu	37	chr3	169637339	169637339	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagacaatcccactgaTcccctcaccatttgggcctc	7	17	1	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:169637339T>C	ENST00000428432.2	+	3	442	c.53T>C	c.(52-54)aTc>aCc	p.I18T	SAMD7_ENST00000335556.3_Missense_Mutation_p.I18T	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	18										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)			ATCCCACTGATCCCCTCACCA	0.423													63	614					0	0	1	0	0	C	169637339	T	C	169637339	3	2	7	1	0	0	0	0	1	0	0	0	13876	1435	50	3	55	3	SAMD7	3	169637339	Missense_Mutation	SNP	T	TCGA-FZ-5920-01A-11D-1609-08	107661953	169637339	28385091	19	542											
LAP3	51056	broad.mit.edu	37	chr4	17579127	17579127	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccggctgcggggcgagtagtCgtccgacgtctggccgtgag	18	12	1	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:17579127C>G	ENST00000226299.4	+	1	313	c.39C>G	c.(37-39)gtC>gtG	p.V13V	LAP3_ENST00000606142.1_5'UTR	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	13					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						GGCGAGTAGTCGTCCGACGTC	0.697													5	37					0	0	1	0	0	G	17579127	C	G	17579127	2	3	7	1	0	0	0	0	0	0	0	1	8662	871	31	5		5	LAP3	4	17579127	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08		17579127	173575149	20	543											
CLOCK	9575	broad.mit.edu	37	chr4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-													agctgctgctcctgggagctCtgctgctgctgctgctgcgt							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)del	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.				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)			cctgggagctctgctgctgctgc	0.512													8	279	---	---	---	---						-	56304532	CTG	-	56304530	7	5	7	1	0	1	0	1	0	0	0	0	3572	912	32	0	268	0	CLOCK	4	56304530	In_Frame_Del	DEL	CTG	TCGA-FZ-5920-01A-11D-1609-08	38725403	56304530	134849746	21	544											
MAPK10	5602	broad.mit.edu	37	chr4	86950350	86950350	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattcacggagagtgagtacCtgaaggagaaggctgtcctt	13	7	1	4			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:86950350C>A	ENST00000395169.3	-	13	1858	c.1138_splice	c.e13+1	p.G380_splice	MAPK10_ENST00000395160.3_Splice_Site_p.A273_splice|MAPK10_ENST00000449047.2_Splice_Site_p.G273_splice|MAPK10_ENST00000395166.1_Splice_Site_p.G380_splice|MAPK10_ENST00000395157.3_Splice_Site_p.G273_splice|MAPK10_ENST00000395161.2_Splice_Site_p.A418_splice|MAPK10_ENST00000359221.3_Splice_Site_p.G418_splice|MAPK10_ENST00000361569.2_Splice_Site_p.A418_splice	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	418					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GAGTGAGTACCTGAAGGAGAA	0.358													24	347					3.08376e-08	3.27221e-08	1	1	0	A	86950350	C	A	86950350	5	1	7	1	0	0	0	0	0	0	1	0	9322	695	24	2	155	2	MAPK10	4	86950350	Splice_Site	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	30645820	86950350	104203926	22	545											
MMRN1	22915	broad.mit.edu	37	chr4	90844391	90844393	+	In_Frame_Del	DEL	AGC	AGC	-													tgttggcagaggagtagctgAgcagcagcagcagcaaggct							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:90844391_90844393delAGC	ENST00000394980.1	+	5	1242_1244	c.923_925delAGC	c.(922-927)gag>g	p.EQ308del	MMRN1_ENST00000508372.1_In_Frame_Del_p.EQ50del|MMRN1_ENST00000394981.1_In_Frame_Del_p.EQ274del|MMRN1_ENST00000264790.2_In_Frame_Del_p.EQ308del			Q13201	MMRN1_HUMAN	multimerin 1	308					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)		GGAGTAGCTGAGCAGCAGCAGCA	0.448													11	1518	---	---	---	---						-	90844393	AGC	-	90844391	7	5	7	1	0	1	0	1	0	0	0	0	9719	304	11	0	937	0	MMRN1	4	90844391	In_Frame_Del	DEL	AGC	TCGA-FZ-5920-01A-11D-1609-08	3894041	90844391	100309885	23	546											
COL25A1	84570	broad.mit.edu	37	chr4	109784477	109784477	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttaagaataactcacctTtggtccgggggctccaggtt	11	9	1	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:109784477T>C	ENST00000399132.1	-	21	1680	c.1150A>G	c.(1150-1152)Aag>Gag	p.K384E	COL25A1_ENST00000399126.1_Missense_Mutation_p.K384E|COL25A1_ENST00000399127.1_Missense_Mutation_p.K380E	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	384	Collagen-like 5.					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)		TAACTCACCTTTGGTCCGGGG	0.438													26	181					0	0	1	0	0	C	109784477	T	C	109784477	3	2	7	1	0	0	0	0	1	0	0	0	3707	1850	64	3	970	3	COL25A1	4	109784477	Missense_Mutation	SNP	T	TCGA-FZ-5920-01A-11D-1609-08	18940086	109784477	81369799	24	547											
HAND2	9464	broad.mit.edu	37	chr4	174450243	174450243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgccgctggcatactcGgggctgtaggacagggccat	17	12	0	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:174450243G>A	ENST00000359562.4	-	1	1137	c.198C>T	c.(196-198)ccC>ccT	p.P66P	HAND2-AS1_ENST00000515310.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000512099.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	66					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)		TGGCATACTCGGGGCTGTAGG	0.741													8	60					0	0	1	0	0	A	174450243	G	A	174450243	2	1	7	1	0	0	0	0	0	0	0	1	6991	1103	39	1		1	HAND2	4	174450243	Silent	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	64665766	174450243	16704033	25	548											
SLC12A7	10723	broad.mit.edu	37	chr5	1065587	1065587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtgctcattagggaccGtatgttctgcgggagacagg	14	9	3	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:1065587G>A	ENST00000264930.5	-	18	2291	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	750					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)	ATTAGGGACCGTATGTTCTGC	0.642													6	302					0	0	1	0	0	A	1065587	G	A	1065587	3	1	7	1	0	0	0	0	1	0	0	0	14443	1144	40	1	1031	1	SLC12A7	5	1065587	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08		1065587	179849673	26	549											
MTMR12	54545	broad.mit.edu	37	chr5	32268842	32268842	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtcgcataggaaaacAgaaataatcgtttaagcagt	9	7	0	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:32268842A>T	ENST00000382142.3	-	6	718	c.548T>A	c.(547-549)cTg>cAg	p.L183Q	MTMR12_ENST00000280285.5_Missense_Mutation_p.L183Q|MTMR12_ENST00000264934.5_Missense_Mutation_p.L183Q	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	183						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						ATAGGAAAACAGAAATAATCG	0.388													87	373					0	0	1	0	0	T	32268842	A	T	32268842	3	4	7	1	0	0	0	0	1	0	0	0	9989	188	7	5	1739	5	MTMR12	5	32268842	Missense_Mutation	SNP	A	TCGA-FZ-5920-01A-11D-1609-08	31203255	32268842	148646418	27	550											
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-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	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													5	264					0	0	1	0	0	T	78326807	C	T	78326807	3	4	7	1	0	0	0	0	1	0	0	0	4609	768	27	1	1096	1	DMGDH	5	78326807	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	46057965	78326807	102588453	28	551											
CAMK4	814	broad.mit.edu	37	chr5	110819841	110819841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccaatccaagatggcaacGaggacatgaaagctattcca	8	11	0	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:110819841G>A	ENST00000282356.4	+	11	1497	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	CAMK4_ENST00000512453.1_Missense_Mutation_p.E367K|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	367					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)		AGATGGCAACGAGGACATGAA	0.577													41	446					0	0	1	0	0	A	110819841	G	A	110819841	3	1	7	1	0	0	0	0	1	0	0	0	2623	1059	37	1	1141	1	CAMK4	5	110819841	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	32493034	110819841	70095419	29	552											
PDGFRB	5159	broad.mit.edu	37	chr5	149506172	149506172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcaccaccaccttaaaggGcaaggctggaggcagagatg	13	10	1	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:149506172G>A	ENST00000261799.4	-	11	2054	c.1585C>T	c.(1585-1587)Ccc>Tcc	p.P529S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	529					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)	ACCTTAAAGGGCAAGGCTGGA	0.557			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								4	236					0	0	1	0	0	A	149506172	G	A	149506172	3	1	7	1	0	0	0	0	1	0	0	0	11709	1203	42	2	1787	2	PDGFRB	5	149506172	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	38686331	149506172	31409088	30	553											
PROP1	5626	broad.mit.edu	37	chr5	177421251	177421251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtggcggcgccgggagtgCgggcggcccctctgtcctcc	18	16	1	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:177421251C>T	ENST00000308304.2	-	2	506	c.198G>A	c.(196-198)ccG>ccA	p.P66P		NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	66					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P66P(2)		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)			GCCGGGAGTGCGGGCGGCCCC	0.662													5	393					0	0	1	0	0	T	177421251	C	T	177421251	2	4	7	1	0	0	0	0	0	0	0	1	12609	755	27	1		1	PROP1	5	177421251	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	27915079	177421251	3494009	31	554											
GRM6	2916	broad.mit.edu	37	chr5	178416069	178416069	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgggcaatggcgtacacCgcatcaatcacaaactgcac	10	13	2	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:178416069C>A	ENST00000231188.5	-	6	1399	c.1221G>T	c.(1219-1221)gcG>gcT	p.A407A	GRM6_ENST00000517717.1_Silent_p.A407A|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	407					detection of visible light|visual perception	integral to plasma membrane		p.A407A(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)		TGGCGTACACCGCATCAATCA	0.647													4	201					0.00909568	0.00919193	1	1	0	A	178416069	C	A	178416069	2	1	7	1	0	0	0	0	0	0	0	1	6842	639	23	4		4	GRM6	5	178416069	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	994818	178416069	2499191	32	555											
RANBP9	10048	broad.mit.edu	37	chr6	13644862	13644862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattttggttctccactcccGcatatagtcttctatatcaa	5	11	4	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:13644862G>A	ENST00000011619.3	-	6	1085	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	RANBP9_ENST00000539980.1_Missense_Mutation_p.R114W	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	343					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			CTCCACTCCCGCATATAGTCT	0.438													84	590					0	0	1	0	0	A	13644862	G	A	13644862	3	1	7	1	0	0	0	0	1	0	0	0	13084	1086	38	1	1198	1	RANBP9	6	13644862	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08		13644862	157470205	33	556											
HIST1H4B	8366	broad.mit.edu	37	chr6	26027283	26027283	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taggtcacggcgtcccggatCacgttctccagaaacacctt	9	14	3	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:26027283C>T	ENST00000377364.3	-	1	197	c.198G>A	c.(196-198)gtG>gtA	p.V66V		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	66					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CGTCCCGGATCACGTTCTCCA	0.572											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	271					0	0	1	0	0	T	26027283	C	T	26027283	2	4	7	1	0	0	0	0	0	0	0	1	7207	813	29	2		2	HIST1H4B	6	26027283	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	12382421	26027283	145087784	34	557											
SCAND3	114821	broad.mit.edu	37	chr6	28539892	28539892	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaatctcagcaagctcAggatagtcatttttagcttt	7	8	3	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:28539892A>G	ENST00000452236.2	-	4	4391	c.3774T>C	c.(3772-3774)ccT>ccC	p.P1258P		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1258					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						cagcaagctcaggatagtcat	0.358													13	351					0	0	1	0	0	G	28539892	A	G	28539892	2	3	7	1	0	0	0	0	0	0	0	1	13929	175	7	3		3	SCAND3	6	28539892	Silent	SNP	A	TCGA-FZ-5920-01A-11D-1609-08	2512609	28539892	142575175	35	558											
COL11A2	1302	broad.mit.edu	37	chr6	33143414	33143414	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgcgtccctttggcccCtcaggaccatcctctcccct	7	20	2	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:33143414C>A	ENST00000341947.2	-	30	2540	c.2313G>T	c.(2311-2313)gaG>gaT	p.E771D	COL11A2_ENST00000395197.1_Missense_Mutation_p.E711D|COL11A2_ENST00000361917.1_Missense_Mutation_p.E664D|COL11A2_ENST00000374714.1_Missense_Mutation_p.E745D|COL11A2_ENST00000374713.1_Missense_Mutation_p.E724D|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.E690D|COL11A2_ENST00000374708.4_Missense_Mutation_p.E685D|COL11A2_ENST00000357486.1_Missense_Mutation_p.E750D	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	771	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						CCTTTGGCCCCTCAGGACCAT	0.657													5	488					0.217242	0.217242	1	1	0	A	33143414	C	A	33143414	3	1	7	1	0	0	0	0	1	0	0	0	3691	680	24	2	3045	2	COL11A2	6	33143414	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	4603522	33143414	137971653	36	559											
DST	667	broad.mit.edu	37	chr6	56357816	56357816	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggtctgttcagcctgagtAagccagttgatgaagtcttg	13	7	3	3			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:56357816A>T	ENST00000370754.5	-	84	20372	c.20373T>A	c.(20371-20373)ctT>ctA	p.L6791L	DST_ENST00000370769.4_Silent_p.L6613L|DST_ENST00000370788.2_Silent_p.L4416L|DST_ENST00000361203.3_Silent_p.L6502L|DST_ENST00000446842.2_Silent_p.L6287L|DST_ENST00000421834.2_Silent_p.L4525L|DST_ENST00000244364.6_Silent_p.L4199L|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6611					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)			CAGCCTGAGTAAGCCAGTTGA	0.428													17	108					0	0	1	0	0	T	56357816	A	T	56357816	2	4	7	1	0	0	0	0	0	0	0	1	4809	349	13	5		5	DST	6	56357816	Silent	SNP	A	TCGA-FZ-5920-01A-11D-1609-08	23214402	56357816	114757251	37	560											
STXBP5	0	broad.mit.edu	37	chr6	147525792	147525792	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagatccaggaaacgctcCagtccgagcactttcagctc	10	14	1	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:147525792C>T	ENST00000367481.3	+	1	232	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	STXBP5_ENST00000367480.3_Nonsense_Mutation_p.Q42*|STXBP5_ENST00000321680.6_Nonsense_Mutation_p.Q42*|STXBP5_ENST00000546097.1_Nonsense_Mutation_p.Q42*	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	42					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)		GGAAACGCTCCAGTCCGAGCA	0.632													17	156					0	0	1	0	0	T	147525792	C	T	147525792	4	4	7	1	0	0	0	0	0	1	0	0	15412	595	21	2	126	2	STXBP5	6	147525792	Nonsense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	91167976	147525792	23589275	38	561											
MAD1L1	8379	broad.mit.edu	37	chr7	2020096	2020096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggacgtacctgagcgtGtccgcctcctccctggagaa	14	13	0	2	rs113127342	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:2020096G>A	ENST00000406869.1	-	15	2054	c.1497C>T	c.(1495-1497)gaC>gaT	p.D499D	MAD1L1_ENST00000265854.7_Silent_p.D499D|MAD1L1_ENST00000399654.2_Silent_p.D499D|MAD1L1_ENST00000402746.1_Silent_p.D407D			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	499	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)		ACCTGAGCGTGTCCGCCTCCT	0.617													4	115					0	0	1	0	0	A	2020096	G	A	2020096	2	1	7	1	0	0	0	0	0	0	0	1	9193	1368	48	2		2	MAD1L1	7	2020096	Silent	SNP	G	TCGA-FZ-5920-01A-11D-1609-08		2020096	157118567	39	562											
TBX20	57057	broad.mit.edu	37	chr7	35271146	35271146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgagcctggaggaatccCggaatcctttggcaaaagga	13	9	0	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:35271146C>T	ENST00000408931.3	-	6	1386	c.860G>A	c.(859-861)cGg>cAg	p.R287Q		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	287						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GGAGGAATCCCGGAATCCTTT	0.378													29	275					0	0	1	0	0	T	35271146	C	T	35271146	3	4	7	1	0	0	0	0	1	0	0	0	15716	652	23	1	496	1	TBX20	7	35271146	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	33251050	35271146	123867517	40	563											
AMPH	273	broad.mit.edu	37	chr7	38433731	38433731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggacagtggccttctcCgcctctgcttcctctcctgg	11	16	3	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:38433731C>T	ENST00000356264.2	-	18	1697	c.1482G>A	c.(1480-1482)gcG>gcA	p.A494A	AMPH_ENST00000428293.2_Silent_p.A452A|AMPH_ENST00000325590.5_Silent_p.A452A|AMPH_ENST00000471913.1_5'UTR	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	494					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						TGGCCTTCTCCGCCTCTGCTT	0.572													79	909					0	0	1	0	0	T	38433731	C	T	38433731	2	4	7	1	0	0	0	0	0	0	0	1	584	639	23	1		1	AMPH	7	38433731	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	3162585	38433731	120704932	41	564											
WBSCR27	155368	broad.mit.edu	37	chr7	73249275	73249275	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtccagggtggcctccagaGcctccttgtattgaaggttg	13	10	0	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:73249275G>C	ENST00000297873.4	-	6	585	c.536C>G	c.(535-537)gCt>gGt	p.A179G		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	179										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				GGCCTCCAGAGCCTCCTTGTA	0.662													63	267					0	0	1	0	0	C	73249275	G	C	73249275	3	2	7	1	0	0	0	0	1	0	0	0	17326	971	34	5	205	5	WBSCR27	7	73249275	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	34815544	73249275	85889388	42	565											
TMEM130	222865	broad.mit.edu	37	chr7	98453722	98453722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccacctcttcccactcCgccaccactttgagcttcac	5	20	2	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:98453722C>T	ENST00000450876.1	-	4	1699	c.384G>A	c.(382-384)gcG>gcA	p.A128A	TMEM130_ENST00000546258.1_Silent_p.A193A|TMEM130_ENST00000339375.4_Silent_p.A212A|TMEM130_ENST00000345589.4_Silent_p.A110A|TMEM130_ENST00000416379.2_Silent_p.A212A			Q8N3G9	TM130_HUMAN	transmembrane protein 130	212						Golgi membrane|integral to membrane		p.A212A(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTTCCCACTCCGCCACCACTT	0.587													23	182					0	0	1	0	0	T	98453722	C	T	98453722	2	4	7	1	0	0	0	0	0	0	0	1	16103	639	23	1		1	TMEM130	7	98453722	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	25204447	98453722	60684941	43	566											
ACHE	43	broad.mit.edu	37	chr7	100491142	100491142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgcatgcccaccgaggCggctcccgcgctctccccaa	11	19	1	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:100491142C>T	ENST00000302913.4	-	2	850	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	ACHE_ENST00000411582.1_Missense_Mutation_p.A238T|ACHE_ENST00000412389.1_Missense_Mutation_p.A238T|ACHE_ENST00000241069.5_Missense_Mutation_p.A238T|ACHE_ENST00000419336.2_Missense_Mutation_p.A238T|ACHE_ENST00000428317.1_Missense_Mutation_p.A238T	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	238					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)	CCCACCGAGGCGGCTCCCGCG	0.706													37	406					0	0	1	0	0	T	100491142	C	T	100491142	3	4	7	1	0	0	0	0	1	0	0	0	141	768	27	1	1283	1	ACHE	7	100491142	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	2037420	100491142	58647521	44	567											
FOXP2	93986	broad.mit.edu	37	chr7	114269971	114269973	+	In_Frame_Del	DEL	CAA	CAA	-													agcagcaacaacagcagcagCaacaacaacaacaacagcag					rs149757187		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:114269971_114269973delCAA	ENST00000393500.3	+	11	1103_1105	c.283_285delCAA	c.(283-285)del	p.Q116del	FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del			O15409	FOXP2_HUMAN	forkhead box P2	191	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	p.Q195Q(1)		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						acagcagcagcaacaacaacaac	0.502													10	268	---	---	---	---						-	114269973	CAA	-	114269971	7	5	7	1	0	1	0	1	0	0	0	0	6061	711	25	0	656	0	FOXP2	7	114269971	In_Frame_Del	DEL	CAA	TCGA-FZ-5920-01A-11D-1609-08	13778829	114269971	44868692	45	568											
WASL	8976	broad.mit.edu	37	chr7	123329093	123329094	+	Splice_Site	DEL	TA	TA	-													tctctctctctctctctctcTacctgaagaatgaatggctt							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:123329093_123329094delTA	ENST00000223023.4	-	10	1789		c.e10+1			NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like						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						tctctctctctACCTGAAGAAT	0.431													8	1546	---	---	---	---						-	123329094	TA	-	123329093	8	5	7	1	0	1	0	1	0	0	1	0	17316	1537	53	0		0	WASL	7	123329093	Splice_Site	DEL	TA	TCGA-FZ-5920-01A-11D-1609-08	9059122	123329093	35809570	46	569											
FASTK	10922	broad.mit.edu	37	chr7	150776054	150776054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtggcttcggagggaggCggagccttcgctcctgttcc	17	11	0	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:150776054C>T	ENST00000297532.6	-	3	637	c.560G>A	c.(559-561)cGc>cAc	p.R187H	FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000353841.2_Missense_Mutation_p.R46H|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000482571.1_Missense_Mutation_p.R187H	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	187					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)		CGGAGGGAGGCGGAGCCTTCG	0.622													21	61					0	0	1	0	0	T	150776054	C	T	150776054	3	4	7	1	0	0	0	0	1	0	0	0	5717	768	27	1	1121	1	FASTK	7	150776054	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	27446961	150776054	8362609	47	570											
DLC1	10395	broad.mit.edu	37	chr8	12957788	12957788	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaaccccagctttgagggCgctttgtgcttgctgtgatg	12	10	1	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:12957788C>T	ENST00000276297.4	-	9	2467	c.2058G>A	c.(2056-2058)gcG>gcA	p.A686A	DLC1_ENST00000358919.2_Silent_p.A249A|DLC1_ENST00000520226.1_Silent_p.A175A|DLC1_ENST00000512044.2_Silent_p.A283A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	686					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						GCTTTGAGGGCGCTTTGTGCT	0.557													72	632					0	0	1	0	0	T	12957788	C	T	12957788	2	4	7	1	0	0	0	0	0	0	0	1	4578	755	27	1		1	DLC1	8	12957788	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08		12957788	133406234	48	571											
SGCZ	137868	broad.mit.edu	37	chr8	13948053	13948056	+	Frame_Shift_Del	DEL	CTGT	CTGT	-													gcagacgcagagttcatacaCtgtctgtcgagaacttgagg							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:13948053_13948056delCTGT	ENST00000382080.1	-	8	1550_1553	c.835_838delACAG	c.(835-840)tgfs	p.TV279fs	SGCZ_ENST00000421524.2_Frame_Shift_Del_p.TV232fs	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	266					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)		AGTTCATACACTGTCTGTCGAGAA	0.471													63	641	---	---	---	---						-	13948056	CTGT	-	13948053	7	5	7	1	0	1	0	1	0	0	0	0	14258	565	20	0	104	0	SGCZ	8	13948053	Frame_Shift_Del	DEL	CTGT	TCGA-FZ-5920-01A-11D-1609-08	990265	13948053	132415969	49	572											
TUSC3	7991	broad.mit.edu	37	chr8	15601118	15601118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcgatgttggaaaaagaCggagtaagtctctgtgttgc	14	5	1	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:15601118C>T	ENST00000382020.4	+	8	1142	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	TUSC3_ENST00000506802.1_Missense_Mutation_p.R312W|TUSC3_ENST00000503731.1_Missense_Mutation_p.R312W	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	312					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TGGAAAAAGACGGAGTAAGTC	0.393													26	815					0	0	1	0	0	T	15601118	C	T	15601118	3	4	7	1	0	0	0	0	1	0	0	0	16840	527	19	1	964	1	TUSC3	8	15601118	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	1653065	15601118	130762904	50	573											
FBXO16	157574	broad.mit.edu	37	chr8	28314447	28314447	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcttccaatgccagcacaCctggaaaaacaattacaatt	5	11	1	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:28314447C>T	ENST00000380254.2	-	5	491	c.342_splice	c.e5-1	p.V115_splice	FBXO16_ENST00000518734.1_Splice_Site_p.V103_splice|FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000346498.2_Splice_Site_p.V103_splice	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	115	F-box.									large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TGCCAGCACACCTGGAAAAAC	0.428													22	259					0	0	1	0	0	T	28314447	C	T	28314447	5	4	7	1	0	0	0	0	0	0	1	0	5762	521	18	2	555	2	FBXO16	8	28314447	Splice_Site	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	12713329	28314447	118049575	51	574											
POTEA	340441	broad.mit.edu	37	chr8	43197470	43197470	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactcaaaatggattttaaCggtaggaccattgcataagt	8	7	1	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:43197470C>T	ENST00000522175.2	+	0	1223							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGATTTTAACGGTAGGACCA	0.373													7	741					0	0	1	0	0	T	43197470	C	T	43197470	1	4	7	0	1	0	0	0	0	0	0	0	12309	550	19	1		1	POTEA	8	43197470	RNA	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	14883023	43197470	103166552	52	575											
CDKN2A	1029	broad.mit.edu	37	chr9	21974679	21974679	+	Frame_Shift_Del	DEL	G	G	-													tgcagaccctctacccacctGgatcggcctccgaccgtaac							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:21974679delG	ENST00000304494.5	-	1	418	c.148delC	c.(148-150)agfs	p.Q50fs	CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.Q50fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.Q50fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.Q50fs|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)			314	1020	---	---	---	---						-	21974679	G	-	21974679	7	5	7	1	0	1	0	1	0	0	0	0	3183	1357	47	0	535	0	CDKN2A	9	21974679	Frame_Shift_Del	DEL	G	TCGA-FZ-5920-01A-11D-1609-08		21974679	119238752	53	576											
APBA1	320	broad.mit.edu	37	chr9	72131100	72131100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagcgagatggcatcgcGcttctccttgctgtaccgct	12	14	1	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:72131100G>A	ENST00000265381.4	-	2	1249	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	343					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						ATGGCATCGCGCTTCTCCTTG	0.706													25	394					0	0	1	0	0	A	72131100	G	A	72131100	3	1	7	1	0	0	0	0	1	0	0	0	752	1087	38	1	1534	1	APBA1	9	72131100	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	50156421	72131100	69082331	54	577											
FANCC	2176	broad.mit.edu	37	chr9	97864014	97864014	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgagttcgcagctctttaAggagctctcgggccagtttt	11	10	2	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:97864014A>G	ENST00000289081.3	-	15	1906	c.1652T>C	c.(1651-1653)cTt>cCt	p.L551P	FANCC_ENST00000375305.1_Missense_Mutation_p.L551P	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	551					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				CAGCTCTTTAAGGAGCTCTCG	0.542			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				18	180					0	0	1	0	0	G	97864014	A	G	97864014	3	3	7	1	0	0	0	0	1	0	0	0	5697	72	3	3	28	3	FANCC	9	97864014	Missense_Mutation	SNP	A	TCGA-FZ-5920-01A-11D-1609-08	25732914	97864014	43349417	55	578											
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-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	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													6	578					0	0	1	0	0	A	111970268	G	A	111970268	3	1	7	1	0	0	0	0	1	0	0	0	5184	1087	38	1	924	1	EPB41L4B	9	111970268	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	14106254	111970268	29243163	56	579											
CRB2	286204	broad.mit.edu	37	chr9	126125189	126125189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgtgcctcagacccgtGcgctccagggaccgagtgcc	13	16	1	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:126125189G>A	ENST00000373631.3	+	2	141	c.140G>A	c.(139-141)tGc>tAc	p.C47Y	CRB2_ENST00000359999.3_Missense_Mutation_p.C47Y	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	47						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						TCAGACCCGTGCGCTCCAGGG	0.647													88	673					0	0	1	0	0	A	126125189	G	A	126125189	3	1	7	1	0	0	0	0	1	0	0	0	3872	1319	46	2	146	2	CRB2	9	126125189	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	14154921	126125189	15088242	57	580											
CCBL1	883	broad.mit.edu	37	chr9	131597903	131597903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagtagctgctgggttggCggaagagcagctgctcccgt	15	10	0	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:131597903C>T	ENST00000436267.2	-	12	1330	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.R250H|CCBL1_ENST00000302586.3_Missense_Mutation_p.R300H			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	300					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	GCTGGGTTGGCGGAAGAGCAG	0.607													6	282					0	0	1	0	0	T	131597903	C	T	131597903	3	4	7	1	0	0	0	0	1	0	0	0	2750	768	27	1	385	1	CCBL1	9	131597903	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	5472714	131597903	9615528	58	581											
PRF1	5551	broad.mit.edu	37	chr10	72358782	72358782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagtgagggccgatatgCggccacccagctccacagcc	14	15	0	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr10:72358782C>T	ENST00000441259.1	-	3	855	c.695G>A	c.(694-696)cGc>cAc	p.R232H	PRF1_ENST00000373209.2_Missense_Mutation_p.R232H	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	232	MACPF.				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						GGCCGATATGCGGCCACCCAG	0.657			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				5	334					0	0	1	0	0	T	72358782	C	T	72358782	3	4	7	1	0	0	0	0	1	0	0	0	12530	768	27	1	976	1	PRF1	10	72358782	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08		72358782	63175965	59	582											
PTEN	5728	broad.mit.edu	37	chr10	89692944	89692944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatatttattacatcgggGcaaatttttaaaggcacaag	8	6	0	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr10:89692944G>A	ENST00000371953.3	+	5	1785	c.428G>A	c.(427-429)gGc>gAc	p.G143D		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	143	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G143fs*4(2)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTACATCGGGGCAAATTTTTA	0.388		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			7	666					0	0	1	0	0	A	89692944	G	A	89692944	3	1	7	1	0	0	0	0	1	0	0	0	12787	1203	42	2	446	2	PTEN	10	89692944	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	17334162	89692944	45841803	60	583											
ABCC2	1244	broad.mit.edu	37	chr10	101559000	101559000	+	Frame_Shift_Del	DEL	A	A	-													aaaaaaagaagtctgggaccAaaaaagatgttccaaaatcc							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr10:101559000delA	ENST00000370449.4	+	8	1017	c.904delA	c.(904-906)aafs	p.K303fs		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	303						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)	GTCTGGGACCAAAAAAGATGT	0.403													7	1738	---	---	---	---						-	101559000	A	-	101559000	7	5	7	1	0	1	0	1	0	0	0	0	53	131	5	0	934	0	ABCC2	10	101559000	Frame_Shift_Del	DEL	A	TCGA-FZ-5920-01A-11D-1609-08	11866056	101559000	33975747	61	584											
OR8H2	390151	broad.mit.edu	37	chr11	55873188	55873188	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctatgtgttcattctctttAccatcctgaaaattaattcc	3	11	2	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:55873188A>G	ENST00000313503.1	+	1	670	c.670A>G	c.(670-672)Acc>Gcc	p.T224A		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	224					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)					CATTCTCTTTACCATCCTGAA	0.388										HNSCC(53;0.14)			74	712					0	0	1	0	0	G	55873188	A	G	55873188	3	3	7	1	0	0	0	0	1	0	0	0	11285	391	14	3	672	3	OR8H2	11	55873188	Missense_Mutation	SNP	A	TCGA-FZ-5920-01A-11D-1609-08		55873188	79133328	62	585											
CCDC88B	283234	broad.mit.edu	37	chr11	64124622	64124622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggcactggagtgtcagcGgaggccccaggcagcccaag	15	14	1	0	rs61886888	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:64124622G>A	ENST00000359902.2	+	14	1951	c.1801G>A	c.(1801-1803)Gga>Aga	p.G601R	CCDC88B_ENST00000301897.4_3'UTR|CCDC88B_ENST00000356786.5_3'UTR|CCDC88B_ENST00000463837.1_3'UTR			A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1424					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						GAGTGTCAGCGGAGGCCCCAG	0.667													4	235					0	0	1	0	0	A	64124622	G	A	64124622	3	1	7	1	0	0	0	0	1	0	0	0	2884	1131	39	1		1	CCDC88B	11	64124622	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	8251434	64124622	70881894	63	586											
ACTN3	89	broad.mit.edu	37	chr11	66330622	66330622	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggctggagccctggactaCgtggccttctccagtgccct	12	16	1	0	rs79516407	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:66330622C>T	ENST00000513398.1	+	0	2761				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						CCCTGGACTACGTGGCCTTCT	0.632													58	298					0	0	1	0	0	T	66330622	C	T	66330622	1	4	7	0	1	0	0	0	0	0	0	0	206	547	19	1		1	ACTN3	11	66330622	RNA	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	2206000	66330622	68675894	64	587											
UVRAG	7405	broad.mit.edu	37	chr11	75694431	75694431	+	Splice_Site	DEL	A	A	-													ctgtgattttatttatttagAaaaaaaaaagtgaatgcctg							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:75694431delA	ENST00000356136.3	+	8	941	c.699_splice	c.e8-1	p.K236_splice	UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000532130.1_5'UTR|UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000528420.1_Splice_Site_p.K135_splice	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	236					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						ATTTATTTAGAAAAAAAAAAG	0.303													7	198	---	---	---	---						-	75694431	A	-	75694431	8	5	7	1	0	1	0	1	0	0	1	0	17168	260	9	0	730	0	UVRAG	11	75694431	Splice_Site	DEL	A	TCGA-FZ-5920-01A-11D-1609-08	9363809	75694431	59312085	65	588											
DCUN1D5	84259	broad.mit.edu	37	chr11	102933112	102933112	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtctgacggactttttgCcactcaacaaattcatcaag	7	10	4	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:102933112C>T	ENST00000260247.5	-	8	1032	c.690G>A	c.(688-690)tgG>tgA	p.W230*	DCUN1D5_ENST00000531543.1_Nonsense_Mutation_p.W145*	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	230	DCUN1.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		GGACTTTTTGCCACTCAACAA	0.368													6	524					0	0	1	0	0	T	102933112	C	T	102933112	4	4	7	1	0	0	0	0	0	1	0	0	4340	740	26	2	27	2	DCUN1D5	11	102933112	Nonsense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	27238681	102933112	32073404	66	589											
HSPA8	3312	broad.mit.edu	37	chr11	122931494	122931494	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcaaatctgcgtccaatcAgacgtttggcatctgtaaaa	7	10	4	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:122931494A>G	ENST00000534624.1	-	3	494	c.218T>C	c.(217-219)cTg>cCg	p.L73P	HSPA8_ENST00000526110.1_Missense_Mutation_p.L73P|HSPA8_ENST00000533540.1_Missense_Mutation_p.L73P|HSPA8_ENST00000227378.3_Missense_Mutation_p.L73P|HSPA8_ENST00000532636.1_Missense_Mutation_p.L73P|HSPA8_ENST00000453788.2_Missense_Mutation_p.L73P	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	73					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)		GCGTCCAATCAGACGTTTGGC	0.403													85	315					0	0	1	0	0	G	122931494	A	G	122931494	3	3	7	1	0	0	0	0	1	0	0	0	7459	188	7	3	1750	3	HSPA8	11	122931494	Missense_Mutation	SNP	A	TCGA-FZ-5920-01A-11D-1609-08	19998382	122931494	12075022	67	590											
ZNF202	7753	broad.mit.edu	37	chr11	123597658	123597658	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tatatcctccaaactcagatCttcctgctccagacactctt	3	15	3	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:123597658C>G	ENST00000336139.4	-	8	1356	c.994G>C	c.(994-996)Gat>Cat	p.D332H	ZNF202_ENST00000530393.1_Missense_Mutation_p.D332H|ZNF202_ENST00000529691.1_Missense_Mutation_p.D332H			O95125	ZN202_HUMAN	zinc finger protein 202	332					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)		AAACTCAGATCTTCCTGCTCC	0.468													174	1483					0	0	1	0	0	G	123597658	C	G	123597658	3	3	7	1	0	0	0	0	1	0	0	0	17821	913	32	5	956	5	ZNF202	11	123597658	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	666164	123597658	11408858	68	591											
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-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	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)			52	116					0	0	1	0	0	T	25398284	C	T	25398284	3	4	7	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08		25398284	108453611	69	592											
BIN2	51411	broad.mit.edu	37	chr12	51685907	51685907	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcttcctcagaggagcttGcttcagatccttccttctct	6	14	4	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:51685907G>T	ENST00000267012.4	-	10	1044	c.983C>A	c.(982-984)gCa>gAa	p.A328E	BIN2_ENST00000452142.2_Missense_Mutation_p.A296E|BIN2_ENST00000604560.1_Missense_Mutation_p.A301E|BIN2_ENST00000544402.1_Missense_Mutation_p.A302E	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	328						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						AGAGGAGCTTGCTTCAGATCC	0.547													34	441					9.65021e-13	1.0355e-12	1	1	0	T	51685907	G	T	51685907	3	4	7	1	0	0	0	0	1	0	0	0	1432	1319	46	2	730	2	BIN2	12	51685907	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	26287623	51685907	82165988	70	593											
ESPL1	9700	broad.mit.edu	37	chr12	53683280	53683280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagatgtccccctggcccGcatccagcgcctcttttcct	9	17	1	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:53683280G>A	ENST00000257934.4	+	22	5106	c.5015G>A	c.(5014-5016)cGc>cAc	p.R1672H	ESPL1_ENST00000552462.1_Missense_Mutation_p.R1672H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1672					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						CCCCTGGCCCGCATCCAGCGC	0.597													7	535					0	0	1	0	0	A	53683280	G	A	53683280	3	1	7	1	0	0	0	0	1	0	0	0	5281	1087	38	1	5097	1	ESPL1	12	53683280	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	1997373	53683280	80168615	71	594											
HOXC11	3227	broad.mit.edu	37	chr12	54367353	54367353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcctgcctccttccaccGtcaccgagatcctcatgaaa	7	16	2	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:54367353G>A	ENST00000546378.1	+	1	444	c.328G>A	c.(328-330)Gtc>Atc	p.V110I	HOXC11_ENST00000243082.4_Missense_Mutation_p.V110I|HOTAIR_ENST00000424518.1_RNA|HOTAIR_ENST00000455246.1_RNA			O43248	HXC11_HUMAN	homeobox C11	110					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						TCCTTCCACCGTCACCGAGAT	0.642			T	NUP98	AML								327	1247					0	0	1	0	0	A	54367353	G	A	54367353	3	1	7	1	0	0	0	0	1	0	0	0	7351	1145	40	1	330	1	HOXC11	12	54367353	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	684073	54367353	79484542	72	595											
NUAK1	9891	broad.mit.edu	37	chr12	106532400	106532400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagccccaagtcggggcggTcccccgccacaggcgcggcg	15	19	0	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:106532400T>C	ENST00000261402.2	-	1	1411	c.32A>G	c.(31-33)gAc>gGc	p.D11G		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	11							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						GTCGGGGCGGTCCCCCGCCAC	0.771													5	18					0	0	1	0	0	C	106532400	T	C	106532400	3	2	7	1	0	0	0	0	1	0	0	0	10760	1667	58	3	1981	3	NUAK1	12	106532400	Missense_Mutation	SNP	T	TCGA-FZ-5920-01A-11D-1609-08	52165047	106532400	27319495	73	596											
KSR2	283455	broad.mit.edu	37	chr12	118105363	118105363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaaggagcggagggagcGctcggacagcagcggggagc	20	8	0	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:118105363G>A	ENST00000425217.1	-	5	1054	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.R60C|KSR2_ENST00000339824.5_Missense_Mutation_p.R363C	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	363					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)					CGGAGGGAGCGCTCGGACAGC	0.592													25	70					0	0	1	0	0	A	118105363	G	A	118105363	3	1	7	1	0	0	0	0	1	0	0	0	8621	1087	38	1	1829	1	KSR2	12	118105363	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	11572963	118105363	15746532	74	597											
GCN1L1	10985	broad.mit.edu	37	chr12	120589168	120589168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggctggcacaaggggtgGcaagcagctggctacggact	17	9	0	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:120589168G>A	ENST00000300648.6	-	34	4102	c.4090C>T	c.(4090-4092)Cca>Tca	p.P1364S		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1364					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)					ACAAGGGGTGGCAAGCAGCTG	0.612													4	225					0	0	1	0	0	A	120589168	G	A	120589168	3	1	7	1	0	0	0	0	1	0	0	0	6339	1203	42	2	4025	2	GCN1L1	12	120589168	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	2483805	120589168	13262727	75	598											
KLF12	11278	broad.mit.edu	37	chr13	74420080	74420080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtaccaccacggggatgCggtgaacatgactcagtttg	12	10	1	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr13:74420080C>T	ENST00000377669.2	-	3	580	c.554G>A	c.(553-555)cGc>cAc	p.R185H	KLF12_ENST00000377666.4_Missense_Mutation_p.R185H|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	185					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)		CACGGGGATGCGGTGAACATG	0.502													5	388					0	0	1	0	0	T	74420080	C	T	74420080	3	4	7	1	0	0	0	0	1	0	0	0	8383	768	27	1	674	1	KLF12	13	74420080	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08		74420080	40749798	76	599											
NID2	22795	broad.mit.edu	37	chr14	52495453	52495453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcacagatgcaagtatgCcggtcatctgcaaactcata	7	11	4	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr14:52495453C>T	ENST00000216286.5	-	11	2516	c.2517G>A	c.(2515-2517)cgG>cgA	p.R839R	NID2_ENST00000541773.1_Silent_p.R786R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	839	EGF-like 3; calcium-binding (Potential).					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)					TGCAAGTATGCCGGTCATCTG	0.453													5	349					0	0	1	0	0	T	52495453	C	T	52495453	2	4	7	1	0	0	0	0	0	0	0	1	10462	726	26	2		2	NID2	14	52495453	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08		52495453	54854087	77	600											
HERC2	8924	broad.mit.edu	37	chr15	28515875	28515876	+	Frame_Shift_Ins	INS	-	-	TC													agagctacacagcggaggcaINStacagggcgtagccagacgg							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:28515875_28515876insTC	ENST00000261609.7	-	10	1330_1331	c.1222_1223insGA	c.(1222-1224)gccfs	p.A408fs		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	408					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)		CAGCGGAGGCATACAGGGCGTA	0.515													16	438	---	---	---	---						TC	28515876	-	TC	28515875	7	5	7	1	0	1	1	0	0	0	0	0	7099	217	8	0	13617	0	HERC2	15	28515875	Frame_Shift_Ins	INS	-	TCGA-FZ-5920-01A-11D-1609-08		28515875	74015517	78	601											
APBA2	321	broad.mit.edu	37	chr15	29400578	29400578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaccagctgggcttcagcGtgcagaatggaattgtgagt	14	7	1	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:29400578G>A	ENST00000558402.1	+	14	2622	c.2023G>A	c.(2023-2025)Gtg>Atg	p.V675M	APBA2_ENST00000558330.1_Missense_Mutation_p.V663M|APBA2_ENST00000558259.1_Missense_Mutation_p.V675M|APBA2_ENST00000561069.1_Missense_Mutation_p.V675M|APBA2_ENST00000411764.1_Missense_Mutation_p.V663M			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	675	PDZ 2.				nervous system development|protein transport		protein binding	p.V675M(1)		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)		GGGCTTCAGCGTGCAGAATGG	0.607													113	448					0	0	1	0	0	A	29400578	G	A	29400578	3	1	7	1	0	0	0	0	1	0	0	0	753	1145	40	1	2061	1	APBA2	15	29400578	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	884703	29400578	73130814	79	602											
KIF23	9493	broad.mit.edu	37	chr15	69715496	69715496	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aattgaacttttctttttttAgacgacaagtagatccagag	7	6	1	4			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:69715496A>T	ENST00000260363.4	+	7	680		c.e7-1		KIF23_ENST00000559279.1_Splice_Site|KIF23_ENST00000558585.1_Splice_Site|KIF23_ENST00000537891.1_5'UTR|KIF23_ENST00000395392.2_Splice_Site|KIF23_ENST00000352331.4_Splice_Site	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23						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						TTCTTTTTTTAGACGACAAGT	0.383													7	375					0	0	1	0	0	T	69715496	A	T	69715496	5	4	7	1	0	0	0	0	0	0	1	0	8333	434	15	5	588	5	KIF23	15	69715496	Splice_Site	SNP	A	TCGA-FZ-5920-01A-11D-1609-08	40314918	69715496	32815896	80	603											
IL27	246778	broad.mit.edu	37	chr16	28515269	28515269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggctgactgtgaactccCtccgcagctcctgcaggctc	11	16	0	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:28515269C>T	ENST00000356897.1	-	2	156	c.134G>A	c.(133-135)aGg>aAg	p.R45K		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	45					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						TGTGAACTCCCTCCGCAGCTC	0.642													85	298					0	0	1	0	0	T	28515269	C	T	28515269	3	4	7	1	0	0	0	0	1	0	0	0	7724	681	24	2	613	2	IL27	16	28515269	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08		28515269	61839484	81	604											
CETP	1071	broad.mit.edu	37	chr16	57003893	57003893	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttccataagctgctcctGcatctccaaggggagcgaga	10	12	2	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:57003893G>A	ENST00000200676.3	+	5	637	c.507G>A	c.(505-507)ctG>ctA	p.L169L	CETP_ENST00000566128.1_Silent_p.L104L|CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Silent_p.L169L	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	169					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						AGCTGCTCCTGCATCTCCAAG	0.602													4	166					0	0	1	0	0	A	57003893	G	A	57003893	2	1	7	1	0	0	0	0	0	0	0	1	3299	1306	46	2		2	CETP	16	57003893	Silent	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	28488624	57003893	33350860	82	605											
GPR114	221188	broad.mit.edu	37	chr16	57601845	57601845	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgaacatcgccttcctgcTgagccccgcattcgcaatgt	8	16	0	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:57601845T>C	ENST00000340339.4	+	9	1422	c.899T>C	c.(898-900)cTg>cCg	p.L300P	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.L300P	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	300					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GCCTTCCTGCTGAGCCCCGCA	0.617													22	219					0	0	1	0	0	C	57601845	T	C	57601845	3	2	7	1	0	0	0	0	1	0	0	0	6671	1580	55	3	929	3	GPR114	16	57601845	Missense_Mutation	SNP	T	TCGA-FZ-5920-01A-11D-1609-08	597952	57601845	32752908	83	606											
KIFC3	3801	broad.mit.edu	37	chr16	57829005	57829005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggctgggcgagctgcacttCgggcactggagtcctcgtca	16	12	1	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:57829005C>T	ENST00000379655.4	-	3	478	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	KIFC3_ENST00000541240.1_Missense_Mutation_p.R96Q|KIFC3_ENST00000445690.2_Missense_Mutation_p.R74Q|KIFC3_ENST00000539578.1_5'UTR|KIFC3_ENST00000465878.2_5'UTR|KIFC3_ENST00000421376.2_5'UTR|KIFC3_ENST00000566975.1_5'UTR	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	74					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)				AGCTGCACTTCGGGCACTGGA	0.637													27	182					0	0	1	0	0	T	57829005	C	T	57829005	3	4	7	1	0	0	0	0	1	0	0	0	8356	884	31	1	2357	1	KIFC3	16	57829005	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	227160	57829005	32525748	84	607											
EDC4	23644	broad.mit.edu	37	chr16	67913786	67913788	+	In_Frame_Del	DEL	AGC	AGC	-													ccagcagcagcagcagcggtAgcagcagcagcagcagcagt							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:67913786_67913788delAGC	ENST00000358933.5	+	16	2094_2096	c.1855_1857delAGC	c.(1855-1857)del	p.S629del		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	629	Ser-rich.				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)		cagcagcggtagcagcagcagca	0.616													8	461	---	---	---	---						-	67913788	AGC	-	67913786	7	5	7	1	0	1	0	1	0	0	0	0	4934	420	15	0	1917	0	EDC4	16	67913786	In_Frame_Del	DEL	AGC	TCGA-FZ-5920-01A-11D-1609-08	10084781	67913786	22440967	85	608											
CDH3	1001	broad.mit.edu	37	chr16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-													agggtttggattttgaggccAaaaaccagcacaccctgtac							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aafs	p.K401fs	CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522													7	2407	---	---	---	---						-	68718504	A	-	68718504	7	5	7	1	0	1	0	1	0	0	0	0	3133	131	5	0	1239	0	CDH3	16	68718504	Frame_Shift_Del	DEL	A	TCGA-FZ-5920-01A-11D-1609-08	804718	68718504	21636249	86	609											
TP53	7157	broad.mit.edu	37	chr17	7578464	7578476	+	Frame_Shift_Del	DEL	GGGTGCCGGGCGG	GGGTGCCGGGCGG	-													gatggccatggcgcggacgcGggtgccgggcgggggtgtgg					rs72661116		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:7578464_7578476delGGGTGCCGGGCGG	ENST00000420246.2	-	5	586_598	c.454_466delCCGCCCGGCACCC	c.(454-468)gcfs	p.PPGTR152fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PPGTR152fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> 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.P152L(66)|p.G154V(46)|p.T155N(22)|p.P152S(22)|p.T155P(17)|p.T155I(14)|p.G154G(12)|p.R156fs*14(10)|p.T155A(10)|p.P153fs*28(10)|p.G154S(9)|p.P152R(8)|p.0?(8)|p.P153S(8)|p.P152T(7)|p.P152fs*18(7)|p.P153P(7)|p.G154D(6)|p.T150fs*16(6)|p.P153L(6)|p.P152fs*29(5)|p.T155T(5)|p.P152P(5)|p.P152fs*14(5)|p.?(5)|p.G154C(4)|p.P152Q(4)|p.G61V(3)|p.R156S(3)|p.R156fs*25(3)|p.R156G(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G22V(3)|p.P153T(3)|p.G154fs*27(3)|p.T155fs*23(2)|p.R156C(2)|p.G154fs*16(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.P152A(2)|p.T155S(2)|p.P20L(2)|p.P59L(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.R156_V157del(1)|p.P152fs*27(1)|p.G154_R156delGTR(1)|p.P152fs*28(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.T155_A161delTRVRAMA(1)|p.G61C(1)|p.Q144_G154del11(1)|p.D148_T155delDSTPPPGT(1)|p.R156_A161delRVRAMA(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.T57fs*16(1)|p.T150_P153delTPPP(1)|p.T62P(1)|p.G154A(1)|p.P152del(1)|p.T62A(1)|p.S149fs*72(1)|p.T62N(1)|p.T62I(1)|p.Q144fs*16(1)|p.P153_G154insX(1)|p.P152_P153del(1)|p.R156_R158delRVR(1)|p.P20R(1)|p.T23P(1)|p.T23A(1)|p.T23N(1)|p.S149fs*17(1)|p.T23I(1)|p.P152_P153insXXX(1)|p.T155_R156delTR(1)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P59R(1)|p.G22C(1)|p.R156_A161del(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.G154fs*22(1)|p.P153F(1)|p.T18fs*16(1)|p.P153A(1)|p.P153H(1)|p.T155fs*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)		GCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAA	0.606		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)			50	351	---	---	---	---						-	7578476	GGGTGCCGGGCGG	-	7578464	7	5	7	1	0	1	0	1	0	0	0	0	16442	1116	39	0	832	0	TP53	17	7578464	Frame_Shift_Del	DEL	GGGTGCCGGGCGG	TCGA-FZ-5920-01A-11D-1609-08		7578464	73616746	87	610											
DNAH2	146754	broad.mit.edu	37	chr17	7707727	7707728	+	In_Frame_Ins	INS	-	-	GAG													ctgagttccagaagcagtgtINSgaggagtacctggtcatcat							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:7707727_7707728insGAG	ENST00000572933.1	+	59	10586_10587	c.9126_9127insGAG	c.(9124-9129)tgagga>tgGAGagga	p.3042_3042*>WR	DNAH2_ENST00000389173.2_In_Frame_Ins_p.3042_3042*>WR			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3042	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)				AGAAGCAGTGTGAGGAGTACCT	0.579													59	239	---	---	---	---						GAG	7707728	-	GAG	7707727	7	5	7	1	0	1	1	0	0	0	0	0	4630	1702	59	0	9356	0	DNAH2	17	7707727	In_Frame_Ins	INS	-	TCGA-FZ-5920-01A-11D-1609-08	129263	7707727	73487483	88	611											
GAS2L2	246176	broad.mit.edu	37	chr17	34077157	34077157	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgctggcggcgaggggTcgggcgggggcagggccagc	26	10	0	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:34077157T>G	ENST00000254466.6	-	2	593	c.566A>C	c.(565-567)gAc>gCc	p.D189A	GAS2L2_ENST00000587565.1_Intron	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	189					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)		CGGCGAGGGGTCGGGCGGGGG	0.741													31	375					0	0	1	0	0	G	34077157	T	G	34077157	3	3	7	1	0	0	0	0	1	0	0	0	6287	1667	58	3	2096	3	GAS2L2	17	34077157	Missense_Mutation	SNP	T	TCGA-FZ-5920-01A-11D-1609-08	26369430	34077157	47118053	89	612											
SPATA20	64847	broad.mit.edu	37	chr17	48631710	48631710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggactggatggacaagtgtGtgtgcctattgaccgccttt	13	8	0	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:48631710G>A	ENST00000006658.6	+	15	2176	c.2056G>A	c.(2056-2058)Gtg>Atg	p.V686M	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000356488.4_Missense_Mutation_p.V670M|SPATA20_ENST00000393244.3_Missense_Mutation_p.V626M	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	670					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)			GGACAAGTGTGTGTGCCTATT	0.632													74	508					0	0	1	0	0	A	48631710	G	A	48631710	3	1	7	1	0	0	0	0	1	0	0	0	15062	1377	48	2	2114	2	SPATA20	17	48631710	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	14554553	48631710	32563500	90	613											
QRICH2	84074	broad.mit.edu	37	chr17	74288692	74288692	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgtaccaaaccatgctgatCtgcaccaggttgcaccacat	7	13	1	1	rs140703547	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:74288692C>A	ENST00000262765.5	-	4	1797	c.1618G>T	c.(1618-1620)Gat>Tat	p.D540Y		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	540	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						CCATGCTGATCTGCACCAGGT	0.527													42	343					1.59361e-14	1.71966e-14	1	1	0	A	74288692	C	A	74288692	3	1	7	1	0	0	0	0	1	0	0	0	12932	913	32	2	3437	2	QRICH2	17	74288692	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	25656982	74288692	6906518	91	614											
CBX8	57332	broad.mit.edu	37	chr17	77769890	77769890	+	Frame_Shift_Del	DEL	T	T	-													ttttgggcttgggtccacgcTttttggggccatagagctcc							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:77769890delT	ENST00000269385.4	-	4	329	c.212delA	c.(211-213)agfs	p.K71fs	CBX8_ENST00000485449.1_5'UTR	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	71					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGGTCCACGCTTTTTGGGGCC	0.512													7	1661	---	---	---	---						-	77769890	T	-	77769890	7	5	7	1	0	1	0	1	0	0	0	0	2742	1606	56	0	940	0	CBX8	17	77769890	Frame_Shift_Del	DEL	T	TCGA-FZ-5920-01A-11D-1609-08	3481198	77769890	3425320	92	615											
PLIN4	729359	broad.mit.edu	37	chr19	4513206	4513206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcttactggtgtccacacCggtctgaatgcttcctctgg	10	12	3	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:4513206C>T	ENST00000301286.3	-	3	723	c.724G>A	c.(724-726)Ggt>Agt	p.G242S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	242	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.G170S(1)|p.G242S(1)		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						GTGTCCACACCGGTCTGAATG	0.572													30	1035					0	0	1	0	0	T	4513206	C	T	4513206	3	4	7	1	0	0	0	0	1	0	0	0	12140	652	23	1	3365	1	PLIN4	19	4513206	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08		4513206	54615777	93	616											
ARHGEF18	23370	broad.mit.edu	37	chr19	7527146	7527146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgaagacctgccccagccccGaggcctattccgtggagggg	14	15	0	1	rs146371166		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:7527146G>A	ENST00000359920.6	+	11	2250	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R508Q|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.E624K	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	666					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)				CCCCAGCCCCGAGGCCTATTC	0.602													58	483					0	0	1	0	0	A	7527146	G	A	7527146	3	1	7	1	0	0	0	0	1	0	0	0	898	1058	37	1	2039	1	ARHGEF18	19	7527146	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	3013940	7527146	51601837	94	617											
ZNF700	90592	broad.mit.edu	37	chr19	12059966	12059966	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggcttttattctgccaagtCatttcaaacacatgaaaaaa	5	8	3	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:12059966C>G	ENST00000482090.1	+	3	1491	c.1073C>G	c.(1072-1074)tCa>tGa	p.S358*	ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Nonsense_Mutation_p.S376*|CTD-2006C1.12_ENST00000586394.1_RNA			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	376					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						TCTGCCAAGTCATTTCAAACA	0.343													107	320					0	0	1	0	0	G	12059966	C	G	12059966	4	3	7	1	0	0	0	0	0	1	0	0	18160	838	29	5	1141	5	ZNF700	19	12059966	Nonsense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	4532820	12059966	47069017	95	618											
ZNF799	90576	broad.mit.edu	37	chr19	12502436	12502436	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtaatcagggaaggctttaGaacactgtttacattcatac	8	7	2	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:12502436G>T	ENST00000419318.1	-	4	1429	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.S259Y			Q96GE5	ZN799_HUMAN	zinc finger protein 799	259					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						GAAGGCTTTAGAACACTGTTT	0.378													70	748					7.62465e-47	8.32176e-47	1	1	0	T	12502436	G	T	12502436	3	4	7	1	0	0	0	0	1	0	0	0	18215	942	33	2	1159	2	ZNF799	19	12502436	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	442470	12502436	46626547	96	619											
ZSWIM4	65249	broad.mit.edu	37	chr19	13941586	13941587	+	Frame_Shift_Ins	INS	-	-	C													cggtctgggccccttaggggINScacgccgggccgccaagcca							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:13941586_13941587insC	ENST00000254323.2	+	13	2881_2882	c.2692_2693insC	c.(2692-2694)acgfs	p.T898fs	ZSWIM4_ENST00000440752.2_Frame_Shift_Ins_p.T732fs	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	898							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)			CCCCTTAGGGGCACGCCGGGCC	0.693													13	615	---	---	---	---						C	13941587	-	C	13941586	7	5	7	1	0	1	1	0	0	0	0	0	18283	1203	42	0	2742	0	ZSWIM4	19	13941586	Frame_Shift_Ins	INS	-	TCGA-FZ-5920-01A-11D-1609-08	1439150	13941586	45187397	97	620											
CYP4F11	57834	broad.mit.edu	37	chr19	16024596	16024596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaaagtccaccctctgcGcgcaatatcagctcgggttt	9	14	2	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:16024596G>A	ENST00000402119.3	-	12	1947	c.1521C>T	c.(1519-1521)cgC>cgT	p.R507R	CYP4F11_ENST00000248041.7_Silent_p.R507R|CYP4F11_ENST00000326742.7_3'UTR	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	507					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						CACCCTCTGCGCGCAATATCA	0.612													23	211					0	0	1	0	0	A	16024596	G	A	16024596	2	1	7	1	0	0	0	0	0	0	0	1	4209	1074	38	1		1	CYP4F11	19	16024596	Silent	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	2083010	16024596	43104387	98	621											
ZNF536	9745	broad.mit.edu	37	chr19	30935498	30935498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcgagcagtcggccaaCgagttccgctgcgaggtgtg	18	10	0	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:30935498C>T	ENST00000355537.3	+	2	1176	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	343					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)					AGTCGGCCAACGAGTTCCGCT	0.647													124	1123					0	0	1	0	0	T	30935498	C	T	30935498	2	4	7	1	0	0	0	0	0	0	0	1	18031	535	19	1		1	ZNF536	19	30935498	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	14910902	30935498	28193485	99	622											
C19orf55	148137	broad.mit.edu	37	chr19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-													ccctgcagcaaagcctccatCtcctcctcctcctccctcag							TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atc>at	p.IS213del	C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	213	Ser-rich.									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)			AAGCCTCCATCTCCTCCTCCTCC	0.631													10	1778	---	---	---	---						-	36255949	CTC	-	36255947	7	5	7	1	0	1	0	1	0	0	0	0	1949	903	32	0	665	0	C19orf55	19	36255947	In_Frame_Del	DEL	CTC	TCGA-FZ-5920-01A-11D-1609-08	5320449	36255947	22873036	100	623											
RYR1	6261	broad.mit.edu	37	chr19	38958370	38958370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaccacaggcgagatgcGcgtgggctgggcgaggcccg	18	12	1	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:38958370G>A	ENST00000355481.4	+	25	3430	c.3299G>A	c.(3298-3300)cGc>cAc	p.R1100H	RYR1_ENST00000359596.3_Missense_Mutation_p.R1100H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1100H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1100	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)	GGCGAGATGCGCGTGGGCTGG	0.627													50	637					0	0	1	0	0	A	38958370	G	A	38958370	3	1	7	1	0	0	0	0	1	0	0	0	13820	1087	38	1	3397	1	RYR1	19	38958370	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	2702423	38958370	20170613	101	624											
CEACAM8	1088	broad.mit.edu	37	chr19	43098946	43098946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcccctgccaggggatgCgccatctgcaggaaggggct	17	12	1	0	rs143763173		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:43098946C>T	ENST00000244336.5	-	1	136	c.35G>A	c.(34-36)cGc>cAc	p.R12H	CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	12					immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CCAGGGGATGCGCCATCTGCA	0.612													8	664					0	0	1	0	0	T	43098946	C	T	43098946	3	4	7	1	0	0	0	0	1	0	0	0	3220	768	27	1	1034	1	CEACAM8	19	43098946	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	4140576	43098946	16030037	102	625											
ZC3H4	23211	broad.mit.edu	37	chr19	47575243	47575243	+	Silent	SNP	T	T	A													ggcatgtctgcgtgcatgtcTgcgtgcatgtcagggtgcat					rs392366		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:47575243T>A	ENST00000253048.5	-	13	1975	c.1938A>T	c.(1936-1938)gcA>gcT	p.A646A	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	646	Pro-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)		cgtgcatgtctgcgtgcatgt	0.662													3	83					0	0	1	0	0	A	47575243	T	A	47575243	2	1	7	1	0	0	0	0	0	0	0	1	17629	1567	55	5		5	ZC3H4	19	47575243	Silent	SNP	T	TCGA-FZ-5920-01A-11D-1609-08	4476297	47575243	11553740	103	626	8	2									
ZC3H4	23211	broad.mit.edu	37	chr19	47575245	47575245	+	Missense_Mutation	SNP	C	C	G													catgtctgcgtgcatgtctgCgtgcatgtcagggtgcatgt					rs381976		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:47575245C>G	ENST00000253048.5	-	13	1973	c.1936G>C	c.(1936-1938)Gca>Cca	p.A646P	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	646	Pro-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)		tgcatgtctgcgtgcatgtca	0.662													4	76					0	0	1	0	0	G	47575245	C	G	47575245	3	3	7	1	0	0	0	0	1	0	0	0	17629	768	27	5	1987	5	ZC3H4	19	47575245	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	2	47575245	11553738	104	627	8	2									
CDH22	64405	broad.mit.edu	37	chr20	44838993	44838993	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcccgcgccgtcaccacgccGaccagggagcccacctgcgc	11	21	1	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr20:44838993G>T	ENST00000372262.3	-	6	1639	c.1239C>A	c.(1237-1239)gtC>gtA	p.V413V	CDH22_ENST00000537909.1_Silent_p.V413V|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	413	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)				TCACCACGCCGACCAGGGAGC	0.771													6	32					0.00116845	0.00119986	1	1	0	T	44838993	G	T	44838993	2	4	7	1	0	0	0	0	0	0	0	1	3129	1045	37	4		4	CDH22	20	44838993	Silent	SNP	G	TCGA-FZ-5920-01A-11D-1609-08		44838993	18186527	105	628											
SRMS	6725	broad.mit.edu	37	chr20	62172886	62172886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtcccggtgcacaacgCgctgctcctccaggtagctc	10	17	0	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr20:62172886C>T	ENST00000217188.1	-	6	1074	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	345	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)			GTGCACAACGCGCTGCTCCTC	0.706													12	71					0	0	1	0	0	T	62172886	C	T	62172886	3	4	7	1	0	0	0	0	1	0	0	0	15208	768	27	1	444	1	SRMS	20	62172886	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	17333893	62172886	852634	106	629											
NCAM2	4685	broad.mit.edu	37	chr21	22658659	22658659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgcagaagtggtttgCcgagttagcagttcacctgc	13	8	1	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr21:22658659C>T	ENST00000400546.1	+	4	657	c.408C>T	c.(406-408)tgC>tgT	p.C136C	NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Silent_p.C161C	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	136	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)		AAGTGGTTTGCCGAGTTAGCA	0.398													4	221					0	0	1	0	0	T	22658659	C	T	22658659	2	4	7	1	0	0	0	0	0	0	0	1	10250	747	26	2		2	NCAM2	21	22658659	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08		22658659	25471236	107	630											
KRTAP26-1	388818	broad.mit.edu	37	chr21	31692255	31692255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacatctccacagctcacGctggtagggcagaggtcgat	13	11	2	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr21:31692255G>A	ENST00000360542.3	-	1	352	c.99C>T	c.(97-99)agC>agT	p.S33S		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	33						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CACAGCTCACGCTGGTAGGGC	0.552													64	412					0	0	1	0	0	A	31692255	G	A	31692255	2	1	7	1	0	0	0	0	0	0	0	1	8587	1078	38	1		1	KRTAP26-1	21	31692255	Silent	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	9033596	31692255	16437640	108	631											
PI4KA	5297	broad.mit.edu	37	chr22	21064273	21064273	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaccagggagacgaccgcGtccatgtagggcctggggag	18	10	0	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:21064273G>A	ENST00000255882.6	-	53	6182	c.6096C>T	c.(6094-6096)gaC>gaT	p.D2032D	PI4KA_ENST00000414196.3_Silent_p.D784D|PI4KA_ENST00000572273.1_Silent_p.D1974D	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1974					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)			AGACGACCGCGTCCATGTAGG	0.612													5	383					0	0	1	0	0	A	21064273	G	A	21064273	2	1	7	1	0	0	0	0	0	0	0	1	11921	1136	40	1		1	PI4KA	22	21064273	Silent	SNP	G	TCGA-FZ-5920-01A-11D-1609-08		21064273	30240293	109	632											
SUSD2	56241	broad.mit.edu	37	chr22	24583191	24583191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgttcctgtcggtggctgCcggggacagggtctccatca	14	11	2	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:24583191C>T	ENST00000358321.3	+	11	1925	c.1664C>T	c.(1663-1665)gCc>gTc	p.A555V		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	555	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						TCGGTGGCTGCCGGGGACAGG	0.652													5	273					0	0	1	0	0	T	24583191	C	T	24583191	3	4	7	1	0	0	0	0	1	0	0	0	15464	739	26	2	1706	2	SUSD2	22	24583191	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	3518918	24583191	26721375	110	633											
MKL1	57591	broad.mit.edu	37	chr22	40813466	40813466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccatctgggcagaggggGcaggcgctggagagccaggc	20	10	1	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:40813466G>A	ENST00000396617.3	-	13	2686	c.2096C>T	c.(2095-2097)gCc>gTc	p.A699V	MKL1_ENST00000407029.1_Missense_Mutation_p.A699V|MKL1_ENST00000402042.1_Missense_Mutation_p.A649V|MKL1_ENST00000355630.3_Missense_Mutation_p.A699V			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	699	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						GGCAGAGGGGGCAGGCGCTGG	0.662			T	RBM15	acute megakaryocytic leukemia								3	45					0	0	1	0	0	A	40813466	G	A	40813466	3	1	7	1	0	0	0	0	1	0	0	0	9649	1203	42	2	711	2	MKL1	22	40813466	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	16230275	40813466	10491100	111	634											
MXRA5	25878	broad.mit.edu	37	chrX	3240231	3240231	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtggggtttgcttgtgCcggtggcggaatttgttggg	21	4	0	0			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:3240231C>T	ENST00000217939.6	-	5	3649	c.3495G>A	c.(3493-3495)cgG>cgA	p.R1165R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1165						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)				TTTGCTTGTGCCGGTGGCGGA	0.498													5	471					0	0	1	0	0	T	3240231	C	T	3240231	2	4	7	1	0	0	0	0	0	0	0	1	10051	726	26	2		2	MXRA5	23	3240231	Silent	SNP	C	TCGA-FZ-5920-01A-11D-1609-08		3240231	152030329	112	635											
FAM104B	90736	broad.mit.edu	37	chrX	55172537	55172537	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgttggagcttgccctcGctgctgcaggctgttgaagt	13	10	1	1	rs1047054	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:55172537G>A	ENST00000425133.2	-	3	369	c.331C>T	c.(331-333)Cga>Tga	p.R111*	FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000332132.4_Intron	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.R111*(5)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GCTTGCCCTCGCTGCTGCAGG	0.438													4	151					0	0	1	0	0	A	55172537	G	A	55172537	4	1	7	1	0	0	0	0	0	1	0	0	5417	1095	38	1	124	1	FAM104B	23	55172537	Nonsense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	51932306	55172537	100098023	113	636											
FAM104B	90736	broad.mit.edu	37	chrX	55185620	55185620	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tattccttttgggctgggtgGaatgatggttgccctcttta	12	7	1	1			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:55185620G>C	ENST00000425133.2	-	2	100	c.62C>G	c.(61-63)tCc>tGc	p.S21C	FAM104B_ENST00000477847.2_Missense_Mutation_p.S18C|FAM104B_ENST00000489298.1_Missense_Mutation_p.S20C|FAM104B_ENST00000478918.1_5'UTR|FAM104B_ENST00000472571.2_Missense_Mutation_p.S21C|FAM104B_ENST00000358460.4_Missense_Mutation_p.S21C|FAM104B_ENST00000332132.4_Missense_Mutation_p.S21C	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	21										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GGGCTGGGTGGAATGATGGTT	0.383													5	291					0	0	1	0	0	C	55185620	G	C	55185620	3	2	7	1	0	0	0	0	1	0	0	0	5417	1174	41	5	401	5	FAM104B	23	55185620	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	13083	55185620	100084940	114	637											
NLGN3	54413	broad.mit.edu	37	chrX	70389238	70389238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgggctgaaaccaagggtccGagatcattaccgggccacta	12	12	1	2			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:70389238G>A	ENST00000374051.3	+	7	2100	c.1778G>A	c.(1777-1779)cGa>cAa	p.R593Q	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.R573Q|NLGN3_ENST00000358741.3_Missense_Mutation_p.R613Q	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	613					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)					CCAAGGGTCCGAGATCATTAC	0.522													17	48					0	0	1	0	0	A	70389238	G	A	70389238	3	1	7	1	0	0	0	0	1	0	0	0	10510	1058	37	1	1864	1	NLGN3	23	70389238	Missense_Mutation	SNP	G	TCGA-FZ-5920-01A-11D-1609-08	15203618	70389238	84881322	115	638											
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-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	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													5	408					0	0	1	0	0	T	102471391	C	T	102471391	3	4	7	1	0	0	0	0	1	0	0	0	1411	768	27	1	312	1	BEX4	23	102471391	Missense_Mutation	SNP	C	TCGA-FZ-5920-01A-11D-1609-08	32082153	102471391	52799169	116	639											
PTCHD2	57540	broad.mit.edu	37	chr1	11561569	11561569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcctcccgagccccccgcGtcatccccgcggcctcactc	8	23	2	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:11561569G>A	ENST00000294484.6	+	2	658	c.520G>A	c.(520-522)Gtc>Atc	p.V174I	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V174I	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	174					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.V391I(1)		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)		AGCCCCCCGCGTCATCCCCGC	0.682													11	126					0	0	1	0	0	A	11561569	G	A	11561569	3	1	8	1	0	0	0	0	1	0	0	0	12782	1145	40	1	522	1	PTCHD2	1	11561569	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		11561569	237689052	1	640											
SYF2	25949	broad.mit.edu	37	chr1	25555531	25555531	+	Frame_Shift_Del	DEL	T	T	-													agttcccactccaaacgagcTtttttggcttcccaatttgc							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:25555531delT	ENST00000236273.4	-	3	241	c.216delA	c.(214-216)aafs	p.K72fs	SYF2_ENST00000354361.3_Intron	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	72						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)		CCAAACGAGCTTTTTTGGCTT	0.348													7	657	---	---	---	---						-	25555531	T	-	25555531	7	5	8	1	0	1	0	1	0	0	0	0	15494	1606	56	0	535	0	SYF2	1	25555531	Frame_Shift_Del	DEL	T	TCGA-FZ-5921-01A-11D-1609-08	13993962	25555531	223695090	2	641											
WDR63	126820	broad.mit.edu	37	chr1	85561704	85561704	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctgtatcaatgggcagGtacttaacagaatttttttc	10	6	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:85561704G>A	ENST00000294664.6	+	11	1443		c.e11+1		WDR63_ENST00000326813.8_Splice_Site|WDR63_ENST00000370596.1_Splice_Site	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63											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)		CAATGGGCAGGTACTTAACAG	0.388													25	434					0	0	1	0	0	A	85561704	G	A	85561704	5	1	8	1	0	0	0	0	0	0	1	0	17374	1275	44	2	1302	2	WDR63	1	85561704	Splice_Site	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	60006173	85561704	163688917	3	642											
PI4KB	5298	broad.mit.edu	37	chr1	151265430	151265432	+	In_Frame_Del	DEL	CTC	CTC	-													tccaccagcagctgcagctgCtcctcagtcatgctcatgtg							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:151265430_151265432delCTC	ENST00000368875.2	-	13	2963_2965	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PI4KB_ENST00000368874.4_In_Frame_Del_p.E768del|PI4KB_ENST00000271657.5_In_Frame_Del_p.E795del|PI4KB_ENST00000529142.1_In_Frame_Del_p.E451del|PI4KB_ENST00000368873.1_In_Frame_Del_p.E783del|PI4KB_ENST00000368872.1_In_Frame_Del_p.E768del	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	783					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)			GCTGCAGCTGCTCCTCAGTCATG	0.542													62	381	---	---	---	---						-	151265432	CTC	-	151265430	7	5	8	1	0	1	0	1	0	0	0	0	11922	796	28	0	105	0	PI4KB	1	151265430	In_Frame_Del	DEL	CTC	TCGA-FZ-5921-01A-11D-1609-08	65703726	151265430	97985191	4	643											
PYHIN1	149628	broad.mit.edu	37	chr1	158908939	158908939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccaaagagcagactcggCcttcctgctctgcaggagcc	11	14	1	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:158908939C>T	ENST00000368140.1	+	4	726	c.481C>T	c.(481-483)Cct>Tct	p.P161S	PYHIN1_ENST00000368135.4_Missense_Mutation_p.P161S|PYHIN1_ENST00000392252.3_Missense_Mutation_p.P152S|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P152S|PYHIN1_ENST00000392254.2_Missense_Mutation_p.P161S	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	161					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)					GCAGACTCGGCCTTCCTGCTC	0.483													45	273					0	0	1	0	0	T	158908939	C	T	158908939	3	4	8	1	0	0	0	0	1	0	0	0	12917	739	26	2	491	2	PYHIN1	1	158908939	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	7643509	158908939	90341682	5	644											
CADM3	57863	broad.mit.edu	37	chr1	159169659	159169659	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggccactacttgatccgGcacaaaggtcagaggcacaa	10	12	1	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:159169659G>A	ENST00000368125.4	+	8	1228	c.1071G>A	c.(1069-1071)cgG>cgA	p.R357R	CADM3_ENST00000368124.4_Silent_p.R391R|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	357					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.R391R(2)		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)					ACTTGATCCGGCACAAAGGTC	0.562													5	180					0	0	1	0	0	A	159169659	G	A	159169659	2	1	8	1	0	0	0	0	0	0	0	1	2586	1190	42	2		2	CADM3	1	159169659	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	260720	159169659	90080962	6	645											
SELP	6403	broad.mit.edu	37	chr1	169586589	169586589	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtatttacgggaaatattcCatgagtatgcttttgtgctg	10	5	0	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:169586589C>T	ENST00000263686.6	-	3	195	c.158G>A	c.(157-159)tGg>tAg	p.W53*	SELP_ENST00000367788.2_Nonsense_Mutation_p.W53*|SELP_ENST00000458599.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367791.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367794.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367786.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367792.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367793.2_Nonsense_Mutation_p.W53*	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	53					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)	GGAAATATTCCATGAGTATGC	0.413													48	615					0	0	1	0	0	T	169586589	C	T	169586589	4	4	8	1	0	0	0	0	0	1	0	0	14073	595	21	2	2390	2	SELP	1	169586589	Nonsense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	10416930	169586589	79664032	7	646											
OR2L2	26246	broad.mit.edu	37	chr1	248201829	248201829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtttatgattttctgtatgGaaacaagtctatctccttca	7	7	4	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:248201829G>A	ENST00000366479.2	+	1	356	c.260G>A	c.(259-261)gGa>gAa	p.G87E	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	87					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)			tttctgtatggaaacaagtct	0.418													81	897					0	0	1	0	0	A	248201829	G	A	248201829	3	1	8	1	0	0	0	0	1	0	0	0	11055	1174	41	2	262	2	OR2L2	1	248201829	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	78615240	248201829	1048792	8	647											
GPR113	165082	broad.mit.edu	37	chr2	26536714	26536714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtacgtggtgtcagccatcGggcagcgctgaacagccagc	14	13	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:26536714G>A	ENST00000333478.6	-	5	1175	c.593C>T	c.(592-594)cCg>cTg	p.P198L	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.P328L|GPR113_ENST00000311519.1_Missense_Mutation_p.P397L|GPR113_ENST00000541401.1_5'UTR	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	397					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P198L(1)		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)					GTCAGCCATCGGGCAGCGCTG	0.597													19	241					0	0	1	0	0	A	26536714	G	A	26536714	3	1	8	1	0	0	0	0	1	0	0	0	6670	1116	39	1	2162	1	GPR113	2	26536714	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		26536714	216662659	9	648											
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-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	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													20	378					0	0	1	0	0	T	39440588	C	T	39440588	3	4	8	1	0	0	0	0	1	0	0	0	3178	536	19	1	655	1	CDKL4	2	39440588	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	12903874	39440588	203758785	10	649											
ABCG5	64240	broad.mit.edu	37	chr2	44055164	44055164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgatggagacccggcgccGctcacccgtggaaatgcccc	13	16	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:44055164G>A	ENST00000405322.1	-	4	1245	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	ABCG5_ENST00000260645.1_Missense_Mutation_p.R198W|ABCG5_ENST00000543989.1_5'UTR			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	198	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)				ACCCGGCGCCGCTCACCCGTG	0.597													14	133					0	0	1	0	0	A	44055164	G	A	44055164	3	1	8	1	0	0	0	0	1	0	0	0	71	1086	38	1	1399	1	ABCG5	2	44055164	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	4614576	44055164	199144209	11	650											
ADD2	119	broad.mit.edu	37	chr2	70903959	70903959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctcggcaatgacgctcGccaggagctgggactgaggc	14	12	2	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:70903959G>A	ENST00000264436.3	-	13	2006	c.1562C>T	c.(1561-1563)gCg>gTg	p.A521V	ADD2_ENST00000413157.2_Missense_Mutation_p.A521V|ADD2_ENST00000407644.2_Missense_Mutation_p.A521V|ADD2_ENST00000355733.3_Missense_Mutation_p.A521V|ADD2_ENST00000430656.1_Missense_Mutation_p.A537V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	521					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						AATGACGCTCGCCAGGAGCTG	0.602													31	367					0	0	1	0	0	A	70903959	G	A	70903959	3	1	8	1	0	0	0	0	1	0	0	0	304	1087	38	1	811	1	ADD2	2	70903959	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	26848795	70903959	172295414	12	651											
EN1	2019	broad.mit.edu	37	chr2	119600717	119600717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgctccgtgatgtagcGgtttgcctggaactccgcct	12	14	0	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:119600717G>A	ENST00000295206.6	-	2	1486	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	326					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						GTGATGTAGCGGTTTGCCTGG	0.597													11	119					0	0	1	0	0	A	119600717	G	A	119600717	3	1	8	1	0	0	0	0	1	0	0	0	5137	1116	39	1	206	1	EN1	2	119600717	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	48696758	119600717	123598656	13	652											
EN1	2019	broad.mit.edu	37	chr2	119604052	119604052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctccggggctccccgcgCcgcctccactgccgccgcca	12	23	0	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:119604052C>T	ENST00000295206.6	-	1	1202	c.692G>A	c.(691-693)gGc>gAc	p.G231D		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	231	Poly-Gly.				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						GCTCCCCGCGCCGCCTCCACT	0.766													15	84					0	0	1	0	0	T	119604052	C	T	119604052	3	4	8	1	0	0	0	0	1	0	0	0	5137	739	26	2	494	2	EN1	2	119604052	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	3335	119604052	123595321	14	653											
LRP1B	53353	broad.mit.edu	37	chr2	141245239	141245239	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcgactgccattgggtcGgctagaatcgatccaataga	11	9	0	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:141245239G>A	ENST00000389484.3	-	58	10161	c.9190C>T	c.(9190-9192)Cga>Tga	p.R3064*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3064					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)		CCATTGGGTCGGCTAGAATCG	0.313										TSP Lung(27;0.18)			30	330					0	0	1	0	0	A	141245239	G	A	141245239	4	1	8	1	0	0	0	0	0	1	0	0	9000	1124	39	1	4745	1	LRP1B	2	141245239	Nonsense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	21641187	141245239	101954134	15	654											
TTN	7273	broad.mit.edu	37	chr2	179470381	179470381	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcggggctctttccagtcaaGtgtgatagtggactttgtcc	13	9	2	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:179470381G>C	ENST00000589042.1	-	279	53865	c.53641C>G	c.(53641-53643)Ctt>Gtt	p.L17881V	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L9008V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L8816V|TTN_ENST00000359218.5_Missense_Mutation_p.L8941V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L15313V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L16240V|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16240	Fibronectin type-III 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)			TTCCAGTCAAGTGTGATAGTG	0.438													5	307					0	0	1	0	0	C	179470381	G	C	179470381	3	2	8	1	0	0	0	0	1	0	0	0	16797	1029	36	5	54388	5	TTN	2	179470381	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	38225142	179470381	63728992	16	655											
SRGAP3	9901	broad.mit.edu	37	chr3	9036080	9036080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccatccacgccgttgtgCcggccctcccaccagtcctc	8	20	0	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:9036080C>T	ENST00000383836.3	-	19	2782	c.2355G>A	c.(2353-2355)cgG>cgA	p.R785R	SRGAP3_ENST00000360413.3_Silent_p.R761R	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	785					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)		CGCCGTTGTGCCGGCCCTCCC	0.567			T	RAF1	pilocytic astrocytoma								6	555					0	0	1	0	0	T	9036080	C	T	9036080	2	4	8	1	0	0	0	0	0	0	0	1	15203	726	26	2		2	SRGAP3	3	9036080	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08		9036080	188986350	17	656											
IQSEC1	9922	broad.mit.edu	37	chr3	12983364	12983364	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggggcctcgccctcgaCgctgcagaggagagagaggt	18	11	0	3			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:12983364C>T	ENST00000273221.4	-	2	283	c.65_splice	c.e2-1	p.V23_splice	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	23					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						TCGCCCTCGACGCTGCAGAGG	0.672													7	49					0	0	1	0	0	T	12983364	C	T	12983364	5	4	8	1	0	0	0	0	0	0	1	0	7861	550	19	1	3421	1	IQSEC1	3	12983364	Splice_Site	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	3947284	12983364	185039066	18	657											
EXOG	9941	broad.mit.edu	37	chr3	38537984	38537984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagttcttccggagtcaGggcgctgagggagcgttgac	16	10	2	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:38537984G>T	ENST00000287675.5	+	1	222	c.126G>T	c.(124-126)caG>caT	p.Q42H	EXOG_ENST00000422077.2_Missense_Mutation_p.Q42H|EXOG_ENST00000358249.2_5'UTR	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	42						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						TCCGGAGTCAGGGCGCTGAGG	0.672											OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	459					0.00198382	0.00199637	1	1	0	T	38537984	G	T	38537984	3	4	8	1	0	0	0	0	1	0	0	0	5339	991	35	2	128	2	EXOG	3	38537984	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	25554620	38537984	159484446	19	658											
SCN5A	6331	broad.mit.edu	37	chr3	38592495	38592495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcatagaacatatcgaagtCgtcctcactcaggggctcgg	10	12	3	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:38592495C>T	ENST00000413689.1	-	28	5561	c.5368G>A	c.(5368-5370)Gac>Aac	p.D1790N	SCN5A_ENST00000455624.2_Missense_Mutation_p.D1757N|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1736N|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1736N|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1736N|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1789N|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1772N|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1789N|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1772N|SCN5A_ENST00000333535.4_Missense_Mutation_p.D1790N	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1790			D -> G (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)	ATATCGAAGTCGTCCTCACTC	0.512													31	285					0	0	1	0	0	T	38592495	C	T	38592495	3	4	8	1	0	0	0	0	1	0	0	0	13976	884	31	1	686	1	SCN5A	3	38592495	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	54511	38592495	159429935	20	659											
PFKFB4	5210	broad.mit.edu	37	chr3	48587623	48587623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggtcttgcccctggcggGcaggcccaccatgacaatga	13	13	1	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:48587623G>A	ENST00000232375.3	-	2	254	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	PFKFB4_ENST00000383734.2_Missense_Mutation_p.P48S|PFKFB4_ENST00000545984.1_Missense_Mutation_p.P48S|PFKFB4_ENST00000416568.1_Missense_Mutation_p.P48S|PFKFB4_ENST00000541519.1_Missense_Mutation_p.P14S|PFKFB4_ENST00000536104.1_Missense_Mutation_p.P37S|PFKFB4_ENST00000490115.1_5'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	48	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)		CCCCTGGCGGGCAGGCCCACC	0.597													5	276					0	0	1	0	0	A	48587623	G	A	48587623	3	1	8	1	0	0	0	0	1	0	0	0	11811	1203	42	2	1319	2	PFKFB4	3	48587623	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	9995128	48587623	149434807	21	660											
DPPA4	55211	broad.mit.edu	37	chr3	109050853	109050853	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctggggttgtcagtgtgCtctgcctttttcttagggca	14	8	4	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:109050853C>T	ENST00000335658.6	-	3	258	c.204G>A	c.(202-204)gaG>gaA	p.E68E	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	68						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGTCAGTGTGCTCTGCCTTTT	0.423													47	562					0	0	1	0	0	T	109050853	C	T	109050853	2	4	8	1	0	0	0	0	0	0	0	1	4762	796	28	2		2	DPPA4	3	109050853	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	60463230	109050853	88971577	22	661											
ATR	545	broad.mit.edu	37	chr3	142218556	142218556	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtttaattcatctgtccactCggacctattaaaagaaaccc	5	11	2	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:142218556C>A	ENST00000350721.4	-	31	5414	c.5293G>T	c.(5293-5295)Gag>Tag	p.E1765*	ATR_ENST00000383101.3_Nonsense_Mutation_p.E1701*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1765	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						TCTGTCCACTCGGACCTATTA	0.328								Other conserved DNA damage response genes					48	361					6.68952e-21	7.09089e-21	1	1	0	A	142218556	C	A	142218556	4	1	8	1	0	0	0	0	0	1	0	0	1202	893	31	4	2709	4	ATR	3	142218556	Nonsense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	33167703	142218556	55803874	23	662											
MUC4	4585	broad.mit.edu	37	chr3	195508188	195508188	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacaggaagaggggtggcGtgacctgtggatgctgagga	20	5	0	4			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:195508188G>A	ENST00000463781.3	-	2	10722	c.10263C>T	c.(10261-10263)caC>caT	p.H3421H	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.H3421H|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	189					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)		GAGGGGTGGCGTGACCTGTGG	0.582													3	16					0	0	1	0	0	A	195508188	G	A	195508188	2	1	8	1	0	0	0	0	0	0	0	1	10026	1136	40	1		1	MUC4	3	195508188	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	53289632	195508188	2514242	24	663											
SH3TC1	54436	broad.mit.edu	37	chr4	8214499	8214499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcctacagcagaccctcCggggccagctccgcctgctg	12	19	0	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:8214499C>T	ENST00000539824.1	+	4	465	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	SH3TC1_ENST00000245105.3_Missense_Mutation_p.R107W			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	107							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						GCAGACCCTCCGGGGCCAGCT	0.677													14	121					0	0	1	0	0	T	8214499	C	T	8214499	3	4	8	1	0	0	0	0	1	0	0	0	14316	643	23	1	329	1	SH3TC1	4	8214499	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08		8214499	182939777	25	664											
PF4V1	5197	broad.mit.edu	37	chr4	74719545	74719545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgcctgtgtgtgaagaCcacctcccaggtccgtccca	11	15	0	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:74719545C>T	ENST00000226524.3	+	2	320	c.146C>T	c.(145-147)aCc>aTc	p.T49I		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	49					immune response	extracellular region	chemokine activity|heparin binding			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGTGTGAAGACCACCTCCCAG	0.612													13	83					0	0	1	0	0	T	74719545	C	T	74719545	3	4	8	1	0	0	0	0	1	0	0	0	11801	507	18	2	152	2	PF4V1	4	74719545	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	66505046	74719545	116434731	26	665											
PAQR3	152559	broad.mit.edu	37	chr4	79847745	79847745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggaatcactccatatcccGaaacagaacaaaagatgata	6	9	1	3			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:79847745G>A	ENST00000512733.1	-	4	845	c.632C>T	c.(631-633)tCg>tTg	p.S211L	PAQR3_ENST00000380645.4_Missense_Mutation_p.S211L|PAQR3_ENST00000515541.1_5'UTR|PAQR3_ENST00000295462.3_3'UTR	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	211						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						TCCATATCCCGAAACAGAACA	0.443													27	476					0	0	1	0	0	A	79847745	G	A	79847745	3	1	8	1	0	0	0	0	1	0	0	0	11483	1059	37	1	315	1	PAQR3	4	79847745	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	5128200	79847745	111306531	27	666											
BMP3	651	broad.mit.edu	37	chr4	81967430	81967430	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgccctttccattgagcgGaggaagaagcgctctactgg	13	11	1	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:81967430G>A	ENST00000282701.2	+	2	1175	c.855G>A	c.(853-855)cgG>cgA	p.R285R		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	285					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						CCATTGAGCGGAGGAAGAAGC	0.512													32	353					0	0	1	0	0	A	81967430	G	A	81967430	2	1	8	1	0	0	0	0	0	0	0	1	1460	1161	41	2		2	BMP3	4	81967430	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	2119685	81967430	109186846	28	667											
KIAA1109	84162	broad.mit.edu	37	chr4	123164205	123164205	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctagacagaggcatgcaacTttcaggatcaacttcaaagt	9	9	3	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:123164205T>G	ENST00000264501.4	+	30	5097	c.4724T>G	c.(4723-4725)cTt>cGt	p.L1575R	KIAA1109_ENST00000455637.1_Missense_Mutation_p.L1575R|KIAA1109_ENST00000388738.3_Missense_Mutation_p.L1575R			Q2LD37	K1109_HUMAN	KIAA1109	1575					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						GGCATGCAACTTTCAGGATCA	0.308													29	412					0	0	1	0	0	G	123164205	T	G	123164205	3	3	8	1	0	0	0	0	1	0	0	0	8250	1609	56	3	4834	3	KIAA1109	4	123164205	Missense_Mutation	SNP	T	TCGA-FZ-5921-01A-11D-1609-08	41196775	123164205	67990071	29	668											
NPY2R	4887	broad.mit.edu	37	chr4	156135406	156135406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaacactctgtgtctaccGttcactcttacctatacctt	5	13	4	1	rs148709959	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:156135406G>A	ENST00000329476.3	+	2	804	c.315G>A	c.(313-315)ccG>ccA	p.P105P	NPY2R_ENST00000506608.1_Silent_p.P105P	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	105					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)				TGTGTCTACCGTTCACTCTTA	0.493													21	246					0	0	1	0	0	A	156135406	G	A	156135406	2	1	8	1	0	0	0	0	0	0	0	1	10657	1132	40	1		1	NPY2R	4	156135406	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	32971201	156135406	35018870	30	669											
TERT	0	broad.mit.edu	37	chr5	1294328	1294328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcggctggcactgccccCgcgcctcctcgcacccgggg	12	20	0	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:1294328C>T	ENST00000310581.5	-	2	730	c.673G>A	c.(673-675)Ggg>Agg	p.G225R	TERT_ENST00000296820.5_Missense_Mutation_p.G225R|TERT_ENST00000508104.2_Missense_Mutation_p.G225R|TERT_ENST00000334602.6_Missense_Mutation_p.G225R	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	225	RNA-interacting domain 1.				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)			GCACTGCCCCCGCGCCTCCTC	0.746									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				7	65					0	0	1	0	0	T	1294328	C	T	1294328	3	4	8	1	0	0	0	0	1	0	0	0	15823	652	23	1	2785	1	TERT	5	1294328	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08		1294328	179620932	31	670											
KCNN2	3781	broad.mit.edu	37	chr5	113698895	113698895	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgactacgcgctcatcttCggcatgttcggcatcgtggt	12	12	2	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:113698895C>T	ENST00000512097.3	+	2	1441	c.423C>T	c.(421-423)ttC>ttT	p.F141F	KCNN2_ENST00000264773.3_Silent_p.F141F|KCNN2_ENST00000507750.1_3'UTR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	141						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CGCTCATCTTCGGCATGTTCG	0.602													13	208					0	0	1	0	0	T	113698895	C	T	113698895	2	4	8	1	0	0	0	0	0	0	0	1	8123	883	31	1		1	KCNN2	5	113698895	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	112404567	113698895	67216365	32	671											
CSNK1G3	1456	broad.mit.edu	37	chr5	122881495	122881495	+	Frame_Shift_Del	DEL	A	A	-													ggacctaactttagagttggAaaaaaaattggatgtggcaa							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:122881495delA	ENST00000395412.1	+	2	857	c.138delA	c.(136-138)ggfs	p.G46fs	CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000361991.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	46	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)		TTAGAGTTGGAAAAAAAATTG	0.363													7	497	---	---	---	---						-	122881495	A	-	122881495	7	5	8	1	0	1	0	1	0	0	0	0	3981	233	9	0	140	0	CSNK1G3	5	122881495	Frame_Shift_Del	DEL	A	TCGA-FZ-5921-01A-11D-1609-08	9182600	122881495	58033765	33	672											
PCDHB14	0	broad.mit.edu	37	chr5	140604077	140604077	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttcaggaaaatgcacccttCtagttaaagttatggatata	7	6	2	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:140604077C>T	ENST00000239449.4	+	1	1000	c.1000C>T	c.(1000-1002)Cta>Tta	p.L334L	PCDHB14_ENST00000515856.2_Silent_p.L181L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		334	Cadherin 3.				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)			ATGCACCCTTCTAGTTAAAGT	0.408													6	418					0	0	1	0	0	T	140604077	C	T	140604077	2	4	8	1	0	0	0	0	0	0	0	1	11586	912	32	2		2	PCDHB14	5	140604077	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	17722582	140604077	40311183	34	673											
PCDHGA11	0	broad.mit.edu	37	chr5	140801533	140801533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaatgtttacacagtccGtatatcgcgtgagtgttcca	8	11	0	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:140801533G>A	ENST00000398587.2	+	1	772	c.739G>A	c.(739-741)Gta>Ata	p.V247I	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.V247I|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_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)			TACACAGTCCGTATATCGCGT	0.502													6	580					0	0	1	0	0	A	140801533	G	A	140801533	3	1	8	1	0	0	0	0	1	0	0	0	11599	1145	40	1	741	1	PCDHGA11	5	140801533	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	197456	140801533	40113727	35	674											
GRIA1	0	broad.mit.edu	37	chr5	153054198	153054198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgctcgagaccacacaCgggtggactggaagagaccc	14	11	0	3			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:153054198C>T	ENST00000285900.5	+	6	1181	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	GRIA1_ENST00000521843.2_Missense_Mutation_p.R211W|GRIA1_ENST00000518783.1_Missense_Mutation_p.R290W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R290W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R200W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R280W	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	280					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)	AGACCACACACGGGTGGACTG	0.557													47	332					0	0	1	0	0	T	153054198	C	T	153054198	3	4	8	1	0	0	0	0	1	0	0	0	6808	527	19	1	860	1	GRIA1	5	153054198	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	12252665	153054198	27861062	36	675											
TIMD4	91937	broad.mit.edu	37	chr5	156378788	156378788	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggttgctgttctgtgCgtggttgttgaggctgtaac	17	5	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:156378788C>T	ENST00000274532.2	-	3	470	c.414G>A	c.(412-414)acG>acA	p.T138T	TIMD4_ENST00000407087.3_Silent_p.T138T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	138	Thr-rich.					integral to membrane		p.T138T(1)		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)			CTGTTCTGTGCGTGGTTGTTG	0.493													79	1059					0	0	1	0	0	T	156378788	C	T	156378788	2	4	8	1	0	0	0	0	0	0	0	1	15963	755	27	1		1	TIMD4	5	156378788	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	3324590	156378788	24536472	37	676											
GABRB2	0	broad.mit.edu	37	chr5	160886675	160886675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatgcaggcgaatcatgCggttcttaacagtcactccg	11	11	3	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:160886675C>T	ENST00000274547.2	-	5	630	c.413G>A	c.(412-414)cGc>cAc	p.R138H	GABRB2_ENST00000393959.1_Missense_Mutation_p.R138H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R138H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R138H|GABRB2_ENST00000517901.1_Missense_Mutation_p.R75H|GABRB2_ENST00000517547.1_Intron	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	138					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)	GCGAATCATGCGGTTCTTAAC	0.448													4	153					0	0	1	0	0	T	160886675	C	T	160886675	3	4	8	1	0	0	0	0	1	0	0	0	6202	768	27	1	1153	1	GABRB2	5	160886675	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	4507887	160886675	20028585	38	677											
SQSTM1	8878	broad.mit.edu	37	chr5	179248115	179248115	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctgttccccgcgctgcggcCtggcggcttccaggcgcact	13	18	0	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:179248115C>G	ENST00000389805.4	+	1	357	c.179C>G	c.(178-180)cCt>cGt	p.P60R	SQSTM1_ENST00000402874.3_5'UTR|SQSTM1_ENST00000510187.1_Missense_Mutation_p.P60R|SQSTM1_ENST00000376929.3_Intron	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	60	Interaction with PAWR.|Interaction with PRKCZ and dimerization (By similarity).|OPR.				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)			GCGCTGCGGCCTGGCGGCTTC	0.801													3	10					0	0	1	0	0	G	179248115	C	G	179248115	3	3	8	1	0	0	0	0	1	0	0	0	15186	681	24	5	181	5	SQSTM1	5	179248115	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	18361440	179248115	1667145	39	678											
HDGFL1	154150	broad.mit.edu	37	chr6	22570346	22570347	+	In_Frame_Ins	INS	-	-	GGC													agggcggcggaagcggagagINSggcggcggcggcggcggcgg							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:22570346_22570347insGGC	ENST00000510882.2	+	1	552_553	c.542_543insGGC	c.(541-543)agc>aGGCgc	p.181_181S>RR	HDGFL1_ENST00000230012.3_In_Frame_Ins_p.181_181S>RR			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	181	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					gaagcggagagggcggcggcgg	0.767													5	6	---	---	---	---						GGC	22570347	-	GGC	22570346	7	5	8	1	0	1	1	0	0	0	0	0	7060	1000	35	0	544	0	HDGFL1	6	22570346	In_Frame_Ins	INS	-	TCGA-FZ-5921-01A-11D-1609-08		22570346	148544721	40	679											
OR2H2	7932	broad.mit.edu	37	chr6	29555744	29555744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttaaccaaagctccacacCgggcttcctccttctgggct	9	15	1	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:29555744C>T	ENST00000383640.2	+	1	62	c.23C>T	c.(22-24)cCg>cTg	p.P8L	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	8					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						AGCTCCACACCGGGCTTCCTC	0.522													6	509					0	0	1	0	0	T	29555744	C	T	29555744	3	4	8	1	0	0	0	0	1	0	0	0	11050	652	23	1	25	1	OR2H2	6	29555744	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	6985398	29555744	141559323	41	680											
BAI3	577	broad.mit.edu	37	chr6	69666614	69666614	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggctgggaaaggcgaataAggacctgtcagggtgcagtg	18	7	1	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:69666614A>C	ENST00000370598.1	+	8	2259	c.1438A>C	c.(1438-1440)Agg>Cgg	p.R480R		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	480	TSP type-1 4.				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)				AAGGCGAATAAGGACCTGTCA	0.507													30	404					0	0	1	0	0	C	69666614	A	C	69666614	2	2	8	1	0	0	0	0	0	0	0	1	1298	63	3	3		3	BAI3	6	69666614	Silent	SNP	A	TCGA-FZ-5921-01A-11D-1609-08	40110870	69666614	101448453	42	681											
FILIP1	27145	broad.mit.edu	37	chr6	76022446	76022446	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggtgactttgaggattgtCcgtcccatgggcatttcctg	14	9	0	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:76022446C>T	ENST00000393004.2	-	5	3323	c.3102G>A	c.(3100-3102)cgG>cgA	p.R1034R	FILIP1_ENST00000237172.7_Silent_p.R1034R|FILIP1_ENST00000370020.1_Silent_p.R935R|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						TGAGGATTGTCCGTCCCATGG	0.468													84	844					0	0	1	0	0	T	76022446	C	T	76022446	2	4	8	1	0	0	0	0	0	0	0	1	5927	842	30	2		2	FILIP1	6	76022446	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	6355832	76022446	95092621	43	682											
IMPG1	3617	broad.mit.edu	37	chr6	76751711	76751711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaatgcggatctttttgttCgatgctttgccaaatcgaat	8	7	1	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:76751711C>T	ENST00000369950.3	-	2	389	c.200G>A	c.(199-201)cGa>cAa	p.R67Q	IMPG1_ENST00000369963.3_Intron	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	67					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)				TCTTTTTGTTCGATGCTTTGC	0.363													35	459					0	0	1	0	0	T	76751711	C	T	76751711	3	4	8	1	0	0	0	0	1	0	0	0	7772	884	31	1	2257	1	IMPG1	6	76751711	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	729265	76751711	94363356	44	683											
HOXA7	3204	broad.mit.edu	37	chr7	27196029	27196029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaacggtcgaggcgaaggCgccggcgcccgccccgtagc	17	16	0	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:27196029C>T	ENST00000242159.3	-	1	269	c.136G>A	c.(136-138)Gcc>Acc	p.A46T		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	46					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	p.A46P(2)		endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GAGGCGAAGGCGCCGGCGCCC	0.622													120	434					0	0	1	0	0	T	27196029	C	T	27196029	3	4	8	1	0	0	0	0	1	0	0	0	7338	768	27	1	564	1	HOXA7	7	27196029	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08		27196029	131942634	45	684											
ZMIZ2	83637	broad.mit.edu	37	chr7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C													cgccctgggccccggcgctgINSccccctttgcccccctgcag							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)cccfs	p.P728fs	ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	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						CCCCGGCGCTGCCCCCTTTGCC	0.698													10	88	---	---	---	---						C	44805119	-	C	44805118	7	5	8	1	0	1	1	0	0	0	0	0	17755	1319	46	0	2240	0	ZMIZ2	7	44805118	Frame_Shift_Ins	INS	-	TCGA-FZ-5921-01A-11D-1609-08	17609089	44805118	114333545	46	685											
SRCRB4D	136853	broad.mit.edu	37	chr7	76028102	76028102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttccttgttgggggctgcGttggcaagaattctggaaag	14	7	2	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:76028102G>A	ENST00000275560.3	-	5	835	c.488C>T	c.(487-489)aCg>aTg	p.T163M	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	163						extracellular region|membrane	scavenger receptor activity	p.T163M(1)		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						TGGGGGCTGCGTTGGCAAGAA	0.507													60	822					0	0	1	0	0	A	76028102	G	A	76028102	3	1	8	1	0	0	0	0	1	0	0	0	15193	1145	40	1	1267	1	SRCRB4D	7	76028102	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	31222984	76028102	83110561	47	686											
PCLO	27445	broad.mit.edu	37	chr7	82595385	82595385	+	Frame_Shift_Del	DEL	T	T	-													ttttgtcttcaggggttggcTttttttcttctaggagtggc							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:82595385delT	ENST00000423517.2	-	4	4056	c.3719delA	c.(3718-3720)agfs	p.K1240fs	PCLO_ENST00000333891.8_Frame_Shift_Del_p.K1240fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1179					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						AGGGGTTGGCTTTTTTTCTTC	0.383													8	1670	---	---	---	---						-	82595385	T	-	82595385	7	5	8	1	0	1	0	1	0	0	0	0	11630	1609	56	0	11814	0	PCLO	7	82595385	Frame_Shift_Del	DEL	T	TCGA-FZ-5921-01A-11D-1609-08	6567283	82595385	76543278	48	687											
ABCB4	5244	broad.mit.edu	37	chr7	87035608	87035608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactctttaacttacgtggGgtaacgtctcgatgaaagga	10	8	2	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:87035608G>A	ENST00000265723.4	-	26	3614	c.3503C>T	c.(3502-3504)cCc>cTc	p.P1168L	ABCB4_ENST00000453593.1_Missense_Mutation_p.P1114L|ABCB4_ENST00000359206.3_Missense_Mutation_p.P1161L|ABCB4_ENST00000358400.3_Missense_Mutation_p.P1114L|ABCB4_ENST00000545634.1_Missense_Mutation_p.P1161L	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	1168	ABC transporter 2.		P -> S (in GBD1).		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)					ACTTACGTGGGGTAACGTCTC	0.398													9	719					0	0	1	0	0	A	87035608	G	A	87035608	3	1	8	1	0	0	0	0	1	0	0	0	43	1232	43	2	369	2	ABCB4	7	87035608	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	4440223	87035608	72103055	49	688											
TES	26136	broad.mit.edu	37	chr7	115891866	115891866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgacccagccatctatgCcgaaagggctggctatgata	12	10	1	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:115891866C>T	ENST00000358204.4	+	5	970	c.755C>T	c.(754-756)gCc>gTc	p.A252V	TES_ENST00000393481.2_Missense_Mutation_p.A243V|AC002066.1_ENST00000446355.2_RNA|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000537767.1_Missense_Mutation_p.A10V	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	252	LIM zinc-binding 1.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			GCCATCTATGCCGAAAGGGCT	0.463													87	596					0	0	1	0	0	T	115891866	C	T	115891866	3	4	8	1	0	0	0	0	1	0	0	0	15824	739	26	2	773	2	TES	7	115891866	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	28856258	115891866	43246797	50	689											
SMO	6608	broad.mit.edu	37	chr7	128850261	128850261	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagcccatccctgactgtgaGatcaagaatcgcccgagcct	9	15	1	3			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:128850261G>T	ENST00000249373.3	+	9	1804	c.1524G>T	c.(1522-1524)gaG>gaT	p.E508D	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	508					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						CTGACTGTGAGATCAAGAATC	0.552			Mis		skin basal cell						OREG0018305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	74	378					3.31162e-33	3.53387e-33	1	1	0	T	128850261	G	T	128850261	3	4	8	1	0	0	0	0	1	0	0	0	14854	933	33	2	1558	2	SMO	7	128850261	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	12958395	128850261	30288402	51	690											
KIAA1147	57189	broad.mit.edu	37	chr7	141385395	141385395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctctccacgggcatgttgGcaaagcaggccaggccgaag	14	13	1	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:141385395G>A	ENST00000536163.1	-	3	409	c.410C>T	c.(409-411)gCc>gTc	p.A137V	KIAA1147_ENST00000482493.1_Missense_Mutation_p.A46V	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	137										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					GGGCATGTTGGCAAAGCAGGC	0.537													5	370					0	0	1	0	0	A	141385395	G	A	141385395	3	1	8	1	0	0	0	0	1	0	0	0	8252	1203	42	2	985	2	KIAA1147	7	141385395	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	12535134	141385395	17753268	52	691											
RP1L1	94137	broad.mit.edu	37	chr8	10469289	10469289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggggaggtatgggggcCggcgagcatgtcctggaccc	20	9	0	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr8:10469289C>T	ENST00000382483.3	-	4	2542	c.2319G>A	c.(2317-2319)ccG>ccA	p.P773P		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	773					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)		GTATGGGGGCCGGCGAGCATG	0.662													86	527					0	0	1	0	0	T	10469289	C	T	10469289	2	4	8	1	0	0	0	0	0	0	0	1	13585	639	23	1		1	RP1L1	8	10469289	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08		10469289	135894733	53	692											
GFRA2	2675	broad.mit.edu	37	chr8	21560393	21560393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcatctggcaaagaaggcGtcttctccacccgaggggcc	13	13	4	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr8:21560393G>A	ENST00000524240.1	-	7	1792	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M	GFRA2_ENST00000518077.1_Missense_Mutation_p.T248M|GFRA2_ENST00000400782.4_Missense_Mutation_p.T276M|GFRA2_ENST00000517328.1_Missense_Mutation_p.T381M	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	381						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)		CAAAGAAGGCGTCTTCTCCAC	0.627													17	76					0	0	1	0	0	A	21560393	G	A	21560393	3	1	8	1	0	0	0	0	1	0	0	0	6390	1145	40	1	264	1	GFRA2	8	21560393	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	11091104	21560393	124803629	54	693											
ZFHX4	79776	broad.mit.edu	37	chr8	77767609	77767609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgacgccaccaccggagacGagggaaacactgaaatggaa	13	10	0	3			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr8:77767609G>A	ENST00000521891.2	+	10	8900	c.8452G>A	c.(8452-8454)Gag>Aag	p.E2818K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2792K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2773K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2773K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2773						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)			CACCGGAGACGAGGGAAACAC	0.478										HNSCC(33;0.089)			32	180					0	0	1	0	0	A	77767609	G	A	77767609	3	1	8	1	0	0	0	0	1	0	0	0	17693	1059	37	1	8486	1	ZFHX4	8	77767609	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	56207216	77767609	68596413	55	694											
DMRT3	58524	broad.mit.edu	37	chr9	990182	990182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagagccctgagatagtgtCcgtggaggaagggggatacg	18	6	0	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990182C>T	ENST00000190165.2	+	2	634	c.596C>T	c.(595-597)tCc>tTc	p.S199F		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	199					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)		GAGATAGTGTCCGTGGAGGAA	0.562													27	326					0	0	1	0	0	T	990182	C	T	990182	3	4	8	1	0	0	0	0	1	0	0	0	4615	855	30	2	602	2	DMRT3	9	990182	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08		990182	140223249	56	695			1	1		9	9	799	C		2.13925e-25
DMRT3	58524	broad.mit.edu	37	chr9	990458	990458	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccttctgtccagccgatcctCagtcacgggagcagagcgaa	11	14	3	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990458C>G	ENST00000190165.2	+	2	910	c.872C>G	c.(871-873)tCa>tGa	p.S291*		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	291					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)		AGCCGATCCTCAGTCACGGGA	0.582													26	368					0	0	1	0	0	G	990458	C	G	990458	4	3	8	1	0	0	0	0	0	1	0	0	4615	838	29	5	878	5	DMRT3	9	990458	Nonsense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	276	990458	140222973	57	696			1	1		9	9	799	C		2.13925e-25
DMRT3	58524	broad.mit.edu	37	chr9	990482	990482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacgggagcagagcgaacttCcgcagaacctgagagtctag	13	11	1	3			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990482C>T	ENST00000190165.2	+	2	934	c.896C>T	c.(895-897)tCc>tTc	p.S299F		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)		GAGCGAACTTCCGCAGAACCT	0.577													25	350					0	0	1	0	0	T	990482	C	T	990482	3	4	8	1	0	0	0	0	1	0	0	0	4615	855	30	2	902	2	DMRT3	9	990482	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	24	990482	140222949	58	697			1	1		9	9	799	C		2.13925e-25
DMRT3	58524	broad.mit.edu	37	chr9	990525	990525	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgccctccaatgggcacatCtttgaacacaccttgagctc	7	14	1	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990525C>G	ENST00000190165.2	+	2	977	c.939C>G	c.(937-939)atC>atG	p.I313M		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	313					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)		ATGGGCACATCTTTGAACACA	0.557													11	303					0	0	1	0	0	G	990525	C	G	990525	3	3	8	1	0	0	0	0	1	0	0	0	4615	903	32	5	945	5	DMRT3	9	990525	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	43	990525	140222906	59	698			1	1		9	9	799	C		2.13925e-25
DMRT3	58524	broad.mit.edu	37	chr9	990557	990557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgagctcctaccccatctCgtcttccaaatggtctgtgg	8	14	3	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990557C>T	ENST00000190165.2	+	2	1009	c.971C>T	c.(970-972)tCg>tTg	p.S324L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	324					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)		TACCCCATCTCGTCTTCCAAA	0.557													15	336					0	0	1	0	0	T	990557	C	T	990557	3	4	8	1	0	0	0	0	1	0	0	0	4615	893	31	1	977	1	DMRT3	9	990557	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	32	990557	140222874	60	699			1	1		9	9	799	C		2.13925e-25
DMRT3	58524	broad.mit.edu	37	chr9	990581	990581	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttccaaatggtctgtgggatCagcctttcgagtcccagaca	10	11	2	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990581C>T	ENST00000190165.2	+	2	1033	c.995C>T	c.(994-996)tCa>tTa	p.S332L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	332					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)		TCTGTGGGATCAGCCTTTCGA	0.572													16	377					0	0	1	0	0	T	990581	C	T	990581	3	4	8	1	0	0	0	0	1	0	0	0	4615	838	29	2	1001	2	DMRT3	9	990581	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	24	990581	140222850	61	700			1	1		9	9	799	C		2.13925e-25
DMRT3	58524	broad.mit.edu	37	chr9	990814	990814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaggtcccagtatgtcagtCctttccccagtaactctacc	7	14	2	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990814C>T	ENST00000190165.2	+	2	1266	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	410					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)		GTATGTCAGTCCTTTCCCCAG	0.582													23	179					0	0	1	0	0	T	990814	C	T	990814	3	4	8	1	0	0	0	0	1	0	0	0	4615	855	30	2	1234	2	DMRT3	9	990814	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	233	990814	140222617	62	701			1	1		9	9	799	C		2.13925e-25
DMRT3	58524	broad.mit.edu	37	chr9	990923	990923	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgatgggtgtccatttgtgtCaaagcagtccatttacaccg	10	9	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990923C>T	ENST00000190165.2	+	2	1375	c.1337C>T	c.(1336-1338)tCa>tTa	p.S446L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	446					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)		CCATTTGTGTCAAAGCAGTCC	0.527													32	392					0	0	1	0	0	T	990923	C	T	990923	3	4	8	1	0	0	0	0	1	0	0	0	4615	838	29	2	1343	2	DMRT3	9	990923	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	109	990923	140222508	63	702			1	1		9	9	799	C		2.13925e-25
DMRT3	58524	broad.mit.edu	37	chr9	990980	990980	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaggtctgactcctcagactCtagaacactcaacacatcat	6	13	5	3			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990980C>G	ENST00000190165.2	+	2	1432	c.1394C>G	c.(1393-1395)tCt>tGt	p.S465C		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	465					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)		TCCTCAGACTCTAGAACACTC	0.512													44	563					0	0	1	0	0	G	990980	C	G	990980	3	3	8	1	0	0	0	0	1	0	0	0	4615	913	32	5	1400	5	DMRT3	9	990980	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	57	990980	140222451	64	703			1	1		9	9	799	C		2.13925e-25
GPR21	2844	broad.mit.edu	37	chr9	125797765	125797765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtgtaatttatagtctctCcaacagtgtattccaaagag	7	8	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:125797765C>T	ENST00000373642.1	+	1	960	c.920C>T	c.(919-921)tCc>tTc	p.S307F	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	307						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						TATAGTCTCTCCAACAGTGTA	0.473													58	327					0	0	1	0	0	T	125797765	C	T	125797765	3	4	8	1	0	0	0	0	1	0	0	0	6721	855	30	2	922	2	GPR21	9	125797765	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	124806785	125797765	15415666	65	704											
CRB2	286204	broad.mit.edu	37	chr9	126133673	126133673	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcacgtgggtgggaggcTccttgctgccgacagccagc	16	13	0	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:126133673T>A	ENST00000373631.3	+	8	2253	c.2252T>A	c.(2251-2253)cTc>cAc	p.L751H	CRB2_ENST00000359999.3_Missense_Mutation_p.L751H|CRB2_ENST00000373629.2_Missense_Mutation_p.L419H	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	751	Laminin G-like 2.					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						GGTGGGAGGCTCCTTGCTGCC	0.682													45	443					0	0	1	0	0	A	126133673	T	A	126133673	3	1	8	1	0	0	0	0	1	0	0	0	3872	1551	54	5	2282	5	CRB2	9	126133673	Missense_Mutation	SNP	T	TCGA-FZ-5921-01A-11D-1609-08	335908	126133673	15079758	66	705											
PRKCQ	5588	broad.mit.edu	37	chr10	6557092	6557092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccaatccgaagaaatggCgacatggttgcgccctggaa	12	10	0	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:6557092C>T	ENST00000263125.5	-	2	105	c.6G>A	c.(4-6)tcG>tcA	p.S2S	PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Silent_p.S2S	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	2					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						GAAGAAATGGCGACATGGTTG	0.478													21	244					0	0	1	0	0	T	6557092	C	T	6557092	2	4	8	1	0	0	0	0	0	0	0	1	12567	755	27	1		1	PRKCQ	10	6557092	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08		6557092	128977655	67	706											
MCM10	55388	broad.mit.edu	37	chr10	13234464	13234464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttcagggattatggggagCccaaaaccagccatcaagtc	11	10	2	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:13234464C>T	ENST00000378694.1	+	12	1716	c.1641C>T	c.(1639-1641)agC>agT	p.S547S	MCM10_ENST00000378714.3_Silent_p.S547S|MCM10_ENST00000484800.2_Silent_p.S548S			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	548					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						TTATGGGGAGCCCAAAACCAG	0.542													29	322					0	0	1	0	0	T	13234464	C	T	13234464	2	4	8	1	0	0	0	0	0	0	0	1	9435	738	26	2		2	MCM10	10	13234464	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	6677372	13234464	122300283	68	707											
P4HA1	5033	broad.mit.edu	37	chr10	74770789	74770789	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggctcctcctgcagacacatCactcatctataagaaacaag	6	13	3	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:74770789C>T	ENST00000412021.2	-	14	1708	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N	P4HA1_ENST00000307116.2_Missense_Mutation_p.D459N|P4HA1_ENST00000263556.3_Missense_Mutation_p.D459N|P4HA1_ENST00000373008.2_Missense_Mutation_p.D459N|P4HA1_ENST00000394890.2_Missense_Mutation_p.D459N|P4HA1_ENST00000440381.1_Missense_Mutation_p.D441N	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	459	Fe2OG dioxygenase.					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)	GCAGACACATCACTCATCTAT	0.353													30	387					0	0	1	0	0	T	74770789	C	T	74770789	3	4	8	1	0	0	0	0	1	0	0	0	11403	826	29	2	241	2	P4HA1	10	74770789	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	61536325	74770789	60763958	69	708											
ZNF503	84858	broad.mit.edu	37	chr10	77161100	77161101	+	In_Frame_Ins	INS	-	-	CCGCCTCCGCCT													tccaggcagggtctgcaccgINSccgcctccgcctccgccgcc					rs72126859		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:77161100_77161101insCCGCCTCCGCCT	ENST00000372524.4	-	1	563_564	c.77_78insAGGCGGAGGCGG	c.(76-78)ggg>gAGGCGGAGGCGGgg	p.25_26insEAEA	ZNF503_ENST00000535216.1_In_Frame_Ins_p.25_26insEAEA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	25	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GGTCTGCAccgccgcctccgcc	0.713													7	25	---	---	---	---						CCGCCTCCGCCT	77161101	-	CCGCCTCCGCCT	77161100	7	5	8	1	0	1	1	0	0	0	0	0	18008	1074	38	0	1870	0	ZNF503	10	77161100	In_Frame_Ins	INS	-	TCGA-FZ-5921-01A-11D-1609-08	2390311	77161100	58373647	70	709											
SORCS3	22986	broad.mit.edu	37	chr10	106899195	106899195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagctactacgtgtcttatcGaagagaggcctttgctcaga	10	10	2	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:106899195G>A	ENST00000369701.3	+	8	1480	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	418						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)		GTGTCTTATCGAAGAGAGGCC	0.502													44	473					0	0	1	0	0	A	106899195	G	A	106899195	3	1	8	1	0	0	0	0	1	0	0	0	14986	1058	37	1	1283	1	SORCS3	10	106899195	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	29738095	106899195	28635552	71	710											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57088170	57088170	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgggcttgacagggggTttggcccgagtgtcacctac	16	9	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr11:57088170T>G	ENST00000532437.1	-	2	422	c.111A>C	c.(109-111)aaA>aaC	p.K37N	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.K37N			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	37	Arg/Glu/Lys/Pro-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)				TGACAGGGGGTTTGGCCCGAG	0.622													4	123					0	0	1	0	0	G	57088170	T	G	57088170	3	3	8	1	0	0	0	0	1	0	0	0	16380	1722	60	3	5114	3	TNKS1BP1	11	57088170	Missense_Mutation	SNP	T	TCGA-FZ-5921-01A-11D-1609-08		57088170	77918346	72	711											
HEPHL1	341208	broad.mit.edu	37	chr11	93836096	93836096	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggagaagtaaaaacttaTagatggaatatccctaaaag	8	5	0	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr11:93836096T>C	ENST00000315765.9	+	15	2600	c.2592T>C	c.(2590-2592)taT>taC	p.Y864Y		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	864	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)				TAAAAACTTATAGATGGAATA	0.328													20	197					0	0	1	0	0	C	93836096	T	C	93836096	2	2	8	1	0	0	0	0	0	0	0	1	7096	1413	49	3		3	HEPHL1	11	93836096	Silent	SNP	T	TCGA-FZ-5921-01A-11D-1609-08	36747926	93836096	41170420	73	712											
MMP3	4314	broad.mit.edu	37	chr11	102706890	102706890	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctgttactcttcaaagtGtgtgtcactttctttgcatt	7	9	4	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr11:102706890G>T	ENST00000299855.5	-	10	1657	c.1401C>A	c.(1399-1401)caC>caA	p.H467Q	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	467	Hemopexin-like 4.				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)	TCTTCAAAGTGTGTGTCACTT	0.358													60	433					9.61844e-40	1.04036e-39	1	1	0	T	102706890	G	T	102706890	3	4	8	1	0	0	0	0	1	0	0	0	9715	1368	48	2	36	2	MMP3	11	102706890	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	8870794	102706890	32299626	74	713											
GRIN2B	2904	broad.mit.edu	37	chr12	13768140	13768141	+	Frame_Shift_Ins	INS	-	-	C													cacagagaagtcgaccacctINSccgatcgttcctcattgatg							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:13768140_13768141insC	ENST00000279593.3	-	7	1770_1771	c.1561_1562insG	c.(1561-1563)ggtfs	p.G521fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	521					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.E521K(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)	GTCGACCACCTCCGATCGTTCC	0.5													9	362	---	---	---	---						C	13768141	-	C	13768140	7	5	8	1	0	1	1	0	0	0	0	0	6821	1551	54	0	2920	0	GRIN2B	12	13768140	Frame_Shift_Ins	INS	-	TCGA-FZ-5921-01A-11D-1609-08		13768140	120083755	75	714											
EPS8	0	broad.mit.edu	37	chr12	15818756	15818756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaacatccacctgggtgaCggtcccagggggcgcagggg	16	12	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:15818756C>T	ENST00000281172.5	-	8	1106	c.670G>A	c.(670-672)Gtc>Atc	p.V224I	EPS8_ENST00000543612.1_Missense_Mutation_p.V224I|EPS8_ENST00000543523.1_Missense_Mutation_p.V224I	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	224					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)		ACCTGGGTGACGGTCCCAGGG	0.502													6	397					0	0	1	0	0	T	15818756	C	T	15818756	3	4	8	1	0	0	0	0	1	0	0	0	5222	536	19	1	1854	1	EPS8	12	15818756	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	2050616	15818756	118033139	76	715											
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-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	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)			15	91					8.00594e-06	8.10793e-06	1	1	0	A	25398284	C	A	25398284	3	1	8	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	9579528	25398284	108453611	77	716											
SCN8A	6334	broad.mit.edu	37	chr12	52200183	52200183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaggcgccaaagggattcGtaccctgctctttgccttaa	9	12	1	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:52200183G>A	ENST00000354534.5	+	27	5091	c.4913G>A	c.(4912-4914)cGt>cAt	p.R1638H	SCN8A_ENST00000545061.1_Missense_Mutation_p.R1597H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1638					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)	AAAGGGATTCGTACCCTGCTC	0.488													13	619					0	0	1	0	0	A	52200183	G	A	52200183	3	1	8	1	0	0	0	0	1	0	0	0	13978	1145	40	1	5015	1	SCN8A	12	52200183	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	26801899	52200183	81651712	78	717											
NAV3	89795	broad.mit.edu	37	chr12	78513106	78513106	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcagatgcaggaaaaAgcagtggagatgaagggaaa	13	6	1	3			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:78513106A>G	ENST00000397909.2	+	15	3303	c.3130A>G	c.(3130-3132)Agc>Ggc	p.S1044G	NAV3_ENST00000266692.7_Missense_Mutation_p.S1044G|NAV3_ENST00000228327.6_Missense_Mutation_p.S1044G|NAV3_ENST00000536525.2_Missense_Mutation_p.S1044G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1044	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						TGCAGGAAAAAGCAGTGGAGA	0.468										HNSCC(70;0.22)			78	542					0	0	1	0	0	G	78513106	A	G	78513106	3	3	8	1	0	0	0	0	1	0	0	0	10233	72	3	3	3188	3	NAV3	12	78513106	Missense_Mutation	SNP	A	TCGA-FZ-5921-01A-11D-1609-08	26312923	78513106	55338789	79	718											
NOS1	4842	broad.mit.edu	37	chr12	117662844	117662844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgttggatatcaaattgcCgctgttgccagaagcttcgg	12	8	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:117662844C>T	ENST00000317775.6	-	25	4488	c.3803G>A	c.(3802-3804)cGg>cAg	p.R1268Q	NOS1_ENST00000338101.4_Missense_Mutation_p.R1302Q|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)	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)	ATCAAATTGCCGCTGTTGCCA	0.607													116	1115					0	0	1	0	0	T	117662844	C	T	117662844	3	4	8	1	0	0	0	0	1	0	0	0	10588	652	23	1	521	1	NOS1	12	117662844	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	39149738	117662844	16189051	80	719											
GPR133	283383	broad.mit.edu	37	chr12	131621519	131621519	+	Splice_Site	SNP	G	G	T													ttcttccctttcttcccaggGactgttcatattcctctttc							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:131621519G>T	ENST00000261654.5	+	23	2955	c.2394_splice	c.e23-1	p.G799_splice	GPR133_ENST00000535015.1_Splice_Site_p.G831_splice|GPR133_ENST00000376682.4_Splice_Site_p.G485_splice|GPR133_ENST00000543617.1_Splice_Site_p.G318_splice|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	799					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)		TCTTCCCAGGGACTGTTCATA	0.532													13	274					7.07758e-08	7.35513e-08	1	1	0	T	131621519	G	T	131621519	5	4	8	1	0	0	0	0	0	0	1	0	6683	1188	41	2	2486	2	GPR133	12	131621519	Splice_Site	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	13958675	131621519	2230376	81	720	9	2									
GPR133	283383	broad.mit.edu	37	chr12	131621523	131621523	+	Silent	SNP	G	G	A													tccctttcttcccagggactGttcatattcctctttcattg							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:131621523G>A	ENST00000261654.5	+	23	2959	c.2400G>A	c.(2398-2400)ctG>ctA	p.L800L	GPR133_ENST00000535015.1_Silent_p.L832L|GPR133_ENST00000376682.4_Silent_p.L486L|GPR133_ENST00000543617.1_Silent_p.L319L|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	800					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)		CCCAGGGACTGTTCATATTCC	0.527													13	282					0	0	1	0	0	A	131621523	G	A	131621523	2	1	8	1	0	0	0	0	0	0	0	1	6683	1364	48	2		2	GPR133	12	131621523	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	4	131621523	2230372	82	721	9	2									
GPR133	283383	broad.mit.edu	37	chr12	131621557	131621557	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcattgtctcctgaattcaGaggtacgtccgctctgcttg	9	11	4	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:131621557G>C	ENST00000261654.5	+	23	2993	c.2434G>C	c.(2434-2436)Gag>Cag	p.E812Q	GPR133_ENST00000535015.1_Missense_Mutation_p.E844Q|GPR133_ENST00000376682.4_Missense_Mutation_p.E498Q|GPR133_ENST00000543617.1_Missense_Mutation_p.E331Q|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	812					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)		CCTGAATTCAGAGGTACGTCC	0.532													13	260					0	0	1	0	0	C	131621557	G	C	131621557	3	2	8	1	0	0	0	0	1	0	0	0	6683	943	33	5	2524	5	GPR133	12	131621557	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	34	131621557	2230338	83	722											
SACS	26278	broad.mit.edu	37	chr13	23910739	23910739	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattccttcactgattattcGtcggcaaagctgaaaattct	6	9	2	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr13:23910739G>A	ENST00000382298.3	-	10	7864	c.7276C>T	c.(7276-7278)Cga>Tga	p.R2426*	SACS_ENST00000402364.1_Nonsense_Mutation_p.R1676*|SACS_ENST00000382292.3_Nonsense_Mutation_p.R2426*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2426					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)		CTGATTATTCGTCGGCAAAGC	0.333													51	183					0	0	1	0	0	A	23910739	G	A	23910739	4	1	8	1	0	0	0	0	0	1	0	0	13856	1153	40	1	6467	1	SACS	13	23910739	Nonsense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		23910739	91259139	84	723											
AP1G2	8906	broad.mit.edu	37	chr14	24033838	24033838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacaggaccgcatttccgGcatttcggctggtgtccgtg	12	12	0	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:24033838G>A	ENST00000308724.5	-	8	1609	c.854C>T	c.(853-855)gCc>gTc	p.A285V	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR|AP1G2_ENST00000397120.3_Missense_Mutation_p.A285V	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	285					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)		CGCATTTCCGGCATTTCGGCT	0.547													5	270					0	0	1	0	0	A	24033838	G	A	24033838	3	1	8	1	0	0	0	0	1	0	0	0	729	1203	42	2	1559	2	AP1G2	14	24033838	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		24033838	83315702	85	724											
GPR135	64582	broad.mit.edu	37	chr14	59930958	59930958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgaggacggtggtggcCgtgcgcacctcgctgaagaa	16	9	0	4			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:59930958C>T	ENST00000395116.1	-	1	1102	c.987G>A	c.(985-987)acG>acA	p.T329T		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	329						integral to membrane|plasma membrane	G-protein coupled receptor activity			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)		CGGTGGTGGCCGTGCGCACCT	0.677													8	157					0	0	1	0	0	T	59930958	C	T	59930958	2	4	8	1	0	0	0	0	0	0	0	1	6684	639	23	1		1	GPR135	14	59930958	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	35897120	59930958	47418582	86	725											
SYT16	83851	broad.mit.edu	37	chr14	62541981	62541981	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accacggcacatctcaccaaGagtccagtgtggtccaaagc	9	14	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:62541981G>A	ENST00000430451.2	+	3	1062	c.865G>A	c.(865-867)Gag>Aag	p.E289K	SYT16_ENST00000446982.2_Missense_Mutation_p.E289K|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	289										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)		ATCTCACCAAGAGTCCAGTGT	0.527													13	227					0	0	1	0	0	A	62541981	G	A	62541981	3	1	8	1	0	0	0	0	1	0	0	0	15529	943	33	2	875	2	SYT16	14	62541981	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	2611023	62541981	44807559	87	726											
SYT16	83851	broad.mit.edu	37	chr14	62542083	62542083	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgaagattcctatgccactGacagctcctccatgtggagt	9	11	0	3			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:62542083G>A	ENST00000430451.2	+	3	1164	c.967G>A	c.(967-969)Gac>Aac	p.D323N	SYT16_ENST00000446982.2_Missense_Mutation_p.D323N|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	323										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)		CTATGCCACTGACAGCTCCTC	0.498													40	587					0	0	1	0	0	A	62542083	G	A	62542083	3	1	8	1	0	0	0	0	1	0	0	0	15529	1290	45	2	977	2	SYT16	14	62542083	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	102	62542083	44807457	88	727											
AHNAK2	113146	broad.mit.edu	37	chr14	105419058	105419058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggtgcactttggggccGgctccctcgggcacagggcc	17	14	0	0	rs149453124	by1000genomes	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:105419058G>A	ENST00000333244.5	-	7	2849	c.2730C>T	c.(2728-2730)gcC>gcT	p.A910A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	910						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)			CTTTGGGGCCGGCTCCCTCGG	0.617													111	1325					0	0	1	0	0	A	105419058	G	A	105419058	2	1	8	1	0	0	0	0	0	0	0	1	412	1103	39	1		1	AHNAK2	14	105419058	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	42876975	105419058	1930482	89	728											
ATP10A	57194	broad.mit.edu	37	chr15	25924728	25924728	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaggggggtcaccctgccGgtgctggcagctctcacctt	14	14	2	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:25924728G>T	ENST00000356865.6	-	21	4371	c.4260C>A	c.(4258-4260)acC>acA	p.T1420T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1420					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)		TCACCCTGCCGGTGCTGGCAG	0.642													56	266					6.56871e-35	7.05693e-35	1	1	0	T	25924728	G	T	25924728	2	4	8	1	0	0	0	0	0	0	0	1	1115	1103	39	4		4	ATP10A	15	25924728	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		25924728	76606664	90	729											
ATP8B4	79895	broad.mit.edu	37	chr15	50193367	50193368	+	Frame_Shift_Ins	INS	-	-	T													aatccaactccagctgctgcINStttttttcacaaactacatg							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:50193367_50193368insT	ENST00000284509.6	-	21	2351_2352	c.2210_2211insA	c.(2209-2211)acafs	p.T737fs	ATP8B4_ENST00000559829.1_Frame_Shift_Ins_p.T737fs	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	737					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)		CCAGCTGCTGCTTTTTTTCACA	0.361													42	252	---	---	---	---						T	50193368	-	T	50193367	7	5	8	1	0	1	1	0	0	0	0	0	1195	796	28	0	1399	0	ATP8B4	15	50193367	Frame_Shift_Ins	INS	-	TCGA-FZ-5921-01A-11D-1609-08	24268639	50193367	52338025	91	730											
ITGA11	22801	broad.mit.edu	37	chr15	68612671	68612671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaagactgtggtgtcgaagGacagcgtgtatgcggagcag	17	6	0	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:68612671G>A	ENST00000423218.2	-	20	2563	c.2468C>T	c.(2467-2469)tCc>tTc	p.S823F	ITGA11_ENST00000315757.7_Missense_Mutation_p.S823F			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	823					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGTGTCGAAGGACAGCGTGTA	0.592													11	88					0	0	1	0	0	A	68612671	G	A	68612671	3	1	8	1	0	0	0	0	1	0	0	0	7918	1174	41	2	1142	2	ITGA11	15	68612671	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	18419304	68612671	33918721	92	731											
CYP11A1	1583	broad.mit.edu	37	chr15	74636146	74636146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctttactgaaaatcacGtcccatgcagccacatggtc	6	14	2	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:74636146G>A	ENST00000358632.4	-	4	1034	c.339C>T	c.(337-339)gaC>gaT	p.D113D	CYP11A1_ENST00000419019.2_Silent_p.D113D|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000268053.6_Silent_p.D271D	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	271					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)	TGAAAATCACGTCCCATGCAG	0.592													177	860					0	0	1	0	0	A	74636146	G	A	74636146	2	1	8	1	0	0	0	0	0	0	0	1	4167	1136	40	1		1	CYP11A1	15	74636146	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	6023475	74636146	27895246	93	732											
ACAN	176	broad.mit.edu	37	chr15	89402162	89402162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggttcggggcatctgccGcccctgaggccagcagagaa	15	13	1	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:89402162G>A	ENST00000439576.2	+	12	6720	c.6346G>A	c.(6346-6348)Gcc>Acc	p.A2116T	ACAN_ENST00000561243.1_Missense_Mutation_p.A2116T|ACAN_ENST00000559004.1_Missense_Mutation_p.A2116T|ACAN_ENST00000352105.7_Missense_Mutation_p.A2116T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2116					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)			GGCATCTGCCGCCCCTGAGGC	0.562													5	334					0	0	1	0	0	A	89402162	G	A	89402162	3	1	8	1	0	0	0	0	1	0	0	0	117	1087	38	1	6388	1	ACAN	15	89402162	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	14766016	89402162	13129230	94	733											
USP7	7874	broad.mit.edu	37	chr16	9017122	9017122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaatcctacgcttttttgGtgtggtctgtctggataaaa	10	6	2	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:9017122G>A	ENST00000344836.4	-	3	531	c.333C>T	c.(331-333)caC>caT	p.H111H	USP7_ENST00000381886.4_Silent_p.H95H|USP7_ENST00000535863.1_Silent_p.H12H	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	111	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						CGCTTTTTTGGTGTGGTCTGT	0.453													6	489					0	0	1	0	0	A	9017122	G	A	9017122	2	1	8	1	0	0	0	0	0	0	0	1	17148	1252	44	2		2	USP7	16	9017122	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		9017122	81337631	95	734											
GGA2	23062	broad.mit.edu	37	chr16	23480293	23480293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagcttggagctggatgCcggctgcagcttcactctca	13	11	2	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:23480293C>T	ENST00000309859.4	-	16	1727	c.1645G>A	c.(1645-1647)Gca>Aca	p.A549T	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	549	GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GAGCTGGATGCCGGCTGCAGC	0.493													5	273					0	0	1	0	0	T	23480293	C	T	23480293	3	4	8	1	0	0	0	0	1	0	0	0	6395	739	26	2	204	2	GGA2	16	23480293	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	14463171	23480293	66874460	96	735											
ARMC5	79798	broad.mit.edu	37	chr16	31474214	31474214	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggacccctgagcgggcacAgggtggaagcttccggagcc	17	12	0	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:31474214A>G	ENST00000457010.2	+	3	2047	c.1346A>G	c.(1345-1347)cAg>cGg	p.Q449R	ARMC5_ENST00000538189.1_Missense_Mutation_p.Q481R|ARMC5_ENST00000563544.1_Missense_Mutation_p.Q449R|ARMC5_ENST00000408912.3_Missense_Mutation_p.Q544R|ARMC5_ENST00000412665.2_Missense_Mutation_p.Q93R|ARMC5_ENST00000268314.4_Missense_Mutation_p.Q449R	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	449							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						GAGCGGGCACAGGGTGGAAGC	0.607													3	101					0	0	1	0	0	G	31474214	A	G	31474214	3	3	8	1	0	0	0	0	1	0	0	0	953	188	7	3	1356	3	ARMC5	16	31474214	Missense_Mutation	SNP	A	TCGA-FZ-5921-01A-11D-1609-08	7993921	31474214	58880539	97	736											
SALL1	6299	broad.mit.edu	37	chr16	51173233	51173233	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtcaaatccaaagccccaCcattcactggggtgggagac	10	12	2	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:51173233C>A	ENST00000440970.1	-	2	3040	c.2609G>T	c.(2608-2610)gGt>gTt	p.G870V	SALL1_ENST00000251020.4_Missense_Mutation_p.G967V|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	967					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)			CAAAGCCCCACCATTCACTGG	0.483													40	200					5.71845e-15	6.02141e-15	1	1	0	A	51173233	C	A	51173233	3	1	8	1	0	0	0	0	1	0	0	0	13862	507	18	2	1082	2	SALL1	16	51173233	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	19699019	51173233	39181520	98	737											
C16orf46	123775	broad.mit.edu	37	chr16	81095233	81095233	+	Silent	SNP	G	G	A													cccatccttttccacatccaGcaccttctcttctgactgca							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:81095233G>A	ENST00000378611.4	-	3	836	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	C16orf46_ENST00000299578.5_Silent_p.L241L|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	241										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TCCACATCCAGCACCTTCTCT	0.468													68	810					0	0	1	0	0	A	81095233	G	A	81095233	2	1	8	1	0	0	0	0	0	0	0	1	1822	962	34	2		2	C16orf46	16	81095233	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	29922000	81095233	9259520	99	738	10	2									
C16orf46	123775	broad.mit.edu	37	chr16	81095234	81095234	+	Silent	SNP	C	C	G													ccatccttttccacatccagCaccttctcttctgactgcaa							TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:81095234C>G	ENST00000378611.4	-	3	835	c.720G>C	c.(718-720)gtG>gtC	p.V240V	C16orf46_ENST00000299578.5_Silent_p.V240V|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	240										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CCACATCCAGCACCTTCTCTT	0.473													68	809					0	0	1	0	0	G	81095234	C	G	81095234	2	3	8	1	0	0	0	0	0	0	0	1	1822	697	25	5		5	C16orf46	16	81095234	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	1	81095234	9259519	100	739	10	2									
GALNS	2588	broad.mit.edu	37	chr16	88908313	88908313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcagcctaccgtttctgGcatgggcgttggtggtgtag	17	8	1	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:88908313G>A	ENST00000268695.5	-	3	399	c.311C>T	c.(310-312)gCc>gTc	p.A104V	GALNS_ENST00000565364.1_5'UTR|GALNS_ENST00000542788.1_Intron	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	104						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	ACCGTTTCTGGCATGGGCGTT	0.632													3	89					0	0	1	0	0	A	88908313	G	A	88908313	3	1	8	1	0	0	0	0	1	0	0	0	6246	1203	42	2	1305	2	GALNS	16	88908313	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	7813079	88908313	1446440	101	740											
TP53	7157	broad.mit.edu	37	chr17	7578475	7578475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcggacgcgggtgccgggcGggggtgtggaatcaacccac	19	12	1	0	rs137852790		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:7578475G>A	ENST00000420246.2	-	5	587	c.455C>T	c.(454-456)cCg>cTg	p.P152L	TP53_ENST00000413465.2_Missense_Mutation_p.P152L|TP53_ENST00000445888.2_Missense_Mutation_p.P152L|TP53_ENST00000269305.4_Missense_Mutation_p.P152L|TP53_ENST00000455263.2_Missense_Mutation_p.P152L|TP53_ENST00000359597.4_Missense_Mutation_p.P152L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> 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.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*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)		GGTGCCGGGCGGGGGTGTGGA	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)			45	233					0	0	1	0	0	A	7578475	G	A	7578475	3	1	8	1	0	0	0	0	1	0	0	0	16442	1116	39	1	843	1	TP53	17	7578475	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		7578475	73616735	102	741											
C17orf59	54785	broad.mit.edu	37	chr17	8092931	8092931	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgaggacccggcgccaccGcacgcctcgctcagcccgtc	11	21	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:8092931G>C	ENST00000389017.4	-	1	633	c.528C>G	c.(526-528)tgC>tgG	p.C176W		NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN	chromosome 17 open reading frame 59	176										large_intestine(2)|lung(3)|urinary_tract(1)	6						CGGCGCCACCGCACGCCTCGC	0.736													27	96					0	0	1	0	0	C	8092931	G	C	8092931	3	2	8	1	0	0	0	0	1	0	0	0	1876	1079	38	5	549	5	C17orf59	17	8092931	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	514456	8092931	73102279	103	742											
PLCD3	113026	broad.mit.edu	37	chr17	43194110	43194110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcctgctgctccagcccGcagtggttctccagggatag	13	14	1	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:43194110G>A	ENST00000322765.5	-	8	1415	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	434	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.C434C(2)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	GCTCCAGCCCGCAGTGGTTCT	0.647													24	270					0	0	1	0	0	A	43194110	G	A	43194110	2	1	8	1	0	0	0	0	0	0	0	1	12080	1079	38	1		1	PLCD3	17	43194110	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	35101179	43194110	38001100	104	743											
SDK2	54549	broad.mit.edu	37	chr17	71382685	71382685	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggacgtgaagggcttcAgcctgtagggagaaatcagg	16	6	2	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:71382685A>G	ENST00000392650.3	-	31	4397	c.4397T>C	c.(4396-4398)cTg>cCg	p.L1466P	SDK2_ENST00000388726.3_Missense_Mutation_p.L1466P	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1466	Fibronectin type-III 9.				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						GAAGGGCTTCAGCCTGTAGGG	0.592													2	11					0	0	1	0	0	G	71382685	A	G	71382685	3	3	8	1	0	0	0	0	1	0	0	0	14023	188	7	3	2181	3	SDK2	17	71382685	Missense_Mutation	SNP	A	TCGA-FZ-5921-01A-11D-1609-08	28188575	71382685	9812525	105	744											
GRIN2C	2905	broad.mit.edu	37	chr17	72839130	72839131	+	In_Frame_Ins	INS	-	-	GCTCCGGGG													gagcagcggcaggtcctccaINSgctccgggaagagcgggagg					rs67510083	by1000genomes	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:72839130_72839131insGCTCCGGGG	ENST00000293190.5	-	13	3291_3292	c.3145_3146insCCCCGGAGC	c.(3145-3147)gga>CCCCGGAGCgga	p.1048_1049insPRS		NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	1048				E -> EPPE (in Ref. 3; AAI40802).	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)	CAGGTCCTCCAGCTCCGGGAAG	0.762													3	2	---	---	---	---						GCTCCGGGG	72839131	-	GCTCCGGGG	72839130	7	5	8	1	0	1	1	0	0	0	0	0	6822	188	7	0	559	0	GRIN2C	17	72839130	In_Frame_Ins	INS	-	TCGA-FZ-5921-01A-11D-1609-08	1456445	72839130	8356080	106	745											
QRICH2	84074	broad.mit.edu	37	chr17	74289257	74289257	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatgttgatcgacgacaggCaatgtcaatccttgctggtc	10	11	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:74289257C>A	ENST00000262765.5	-	4	1232	c.1053G>T	c.(1051-1053)ttG>ttT	p.L351F		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	351							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						CGACGACAGGCAATGTCAATC	0.483													97	415					4.08182e-41	4.44527e-41	1	1	0	A	74289257	C	A	74289257	3	1	8	1	0	0	0	0	1	0	0	0	12932	709	25	2	4002	2	QRICH2	17	74289257	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	1450127	74289257	6905953	107	746											
DNAH17	8632	broad.mit.edu	37	chr17	76455227	76455227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcaccaggagcacaggccGgcggcggccgtggacttgga	17	12	0	0	rs139000751	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:76455227G>A	ENST00000389840.5	-	61	9799	c.9675C>T	c.(9673-9675)gcC>gcT	p.A3225A	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.A3234A					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)			AGCACAGGCCGGCGGCGGCCG	0.652													105	1145					0	0	1	0	0	A	76455227	G	A	76455227	2	1	8	1	0	0	0	0	0	0	0	1	4629	1103	39	1		1	DNAH17	17	76455227	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	2165970	76455227	4739983	108	747											
LAMA1	284217	broad.mit.edu	37	chr18	7036029	7036029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgaggttactgtctaccGtctctaccggaatatcgtag	9	10	2	1	rs148234507	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr18:7036029G>A	ENST00000389658.3	-	13	1889	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	599	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)	ACTGTCTACCGTCTCTACCGG	0.448													22	235					0	0	1	0	0	A	7036029	G	A	7036029	3	1	8	1	0	0	0	0	1	0	0	0	8644	1145	40	1	7635	1	LAMA1	18	7036029	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		7036029	71041219	109	748											
ZNF208	7757	broad.mit.edu	37	chr19	22156518	22156518	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattttcttatgttccataaGgtttgaggaccagttgaaag	9	5	1	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:22156518G>T	ENST00000397126.4	-	4	1466	c.1318C>A	c.(1318-1320)Ctt>Att	p.L440I	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_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)				TGTTCCATAAGGTTTGAGGAC	0.378													35	392					6.90743e-12	7.22553e-12	1	1	0	T	22156518	G	T	22156518	3	4	8	1	0	0	0	0	1	0	0	0	17824	1000	35	2	2528	2	ZNF208	19	22156518	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		22156518	36972465	110	749											
C19orf40	91442	broad.mit.edu	37	chr19	33467438	33467438	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcgaaccgtgcagcagatCccaggagttggaaaagttaa	11	9	0	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:33467438C>T	ENST00000588258.1	+	5	608	c.498C>T	c.(496-498)atC>atT	p.I166I	C19orf40_ENST00000589646.1_Silent_p.I71I|C19orf40_ENST00000590281.1_Silent_p.I166I|C19orf40_ENST00000590179.1_Silent_p.I71I	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	166	RuvA domain 2-like.				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)					TGCAGCAGATCCCAGGAGTTG	0.532								Direct reversal of damage			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	94	583					0	0	1	0	0	T	33467438	C	T	33467438	2	4	8	1	0	0	0	0	0	0	0	1	1935	845	30	2		2	C19orf40	19	33467438	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	11310920	33467438	25661545	111	750											
ATP4A	495	broad.mit.edu	37	chr19	36050067	36050067	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgcagttcttactggccagGcgcttggctgtcagggacag	14	11	2	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:36050067G>C	ENST00000262623.3	-	8	1111	c.1083C>G	c.(1081-1083)cgC>cgG	p.R361R		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	361					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)	TACTGGCCAGGCGCTTGGCTG	0.622													106	859					0	0	1	0	0	C	36050067	G	C	36050067	2	2	8	1	0	0	0	0	0	0	0	1	1144	1190	42	5		5	ATP4A	19	36050067	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	2582629	36050067	23078916	112	751											
ZC3H4	23211	broad.mit.edu	37	chr19	47570533	47570533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattgcagggccgcgggcaCggggggcactgcgtcctgct	19	12	0	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:47570533C>T	ENST00000253048.5	-	15	3029	c.2992G>A	c.(2992-2994)Gtg>Atg	p.V998M	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	998							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)		GCCGCGGGCACGGGGGGCACT	0.741													36	450					0	0	1	0	0	T	47570533	C	T	47570533	3	4	8	1	0	0	0	0	1	0	0	0	17629	536	19	1	923	1	ZC3H4	19	47570533	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	11520466	47570533	11558450	113	752											
FUT1	2523	broad.mit.edu	37	chr19	49254216	49254216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcaggataaaggcccggCggccgttgagctgggccaga	17	11	0	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:49254216C>T	ENST00000310160.3	-	4	1297	c.323G>A	c.(322-324)cGc>cAc	p.R108H		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	108					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AAAGGCCCGGCGGCCGTTGAG	0.662													5	288					0	0	1	0	0	T	49254216	C	T	49254216	3	4	8	1	0	0	0	0	1	0	0	0	6136	768	27	1	778	1	FUT1	19	49254216	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	1683683	49254216	9874767	114	753											
KLK4	9622	broad.mit.edu	37	chr19	51411614	51411614	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccctttcccctctctcaCgttgcaggagtccttctggt	7	17	3	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:51411614C>T	ENST00000324041.1	-	4	612		c.e4+1		KLK4_ENST00000431178.2_Intron	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4						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)		CCCTCTCTCACGTTGCAGGAG	0.622													47	520					0	0	1	0	0	T	51411614	C	T	51411614	5	4	8	1	0	0	0	0	0	0	1	0	8449	550	19	1	159	1	KLK4	19	51411614	Splice_Site	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	2157398	51411614	7717369	115	754											
SNRPB	6628	broad.mit.edu	37	chr20	2442419	2442419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctagggccttggtgggcGcattcccgggggagggggcc	20	10	1	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr20:2442419G>A	ENST00000438552.2	-	7	868	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	SNRPB_ENST00000381342.2_3'UTR	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	236	Repeat-rich region.				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CTTGGTGGGCGCATTCCCGGG	0.547													5	393					0	0	1	0	0	A	2442419	G	A	2442419	3	1	8	1	0	0	0	0	1	0	0	0	14915	1087	38	1	20	1	SNRPB	20	2442419	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		2442419	60583101	116	755											
SPTLC3	55304	broad.mit.edu	37	chr20	13098235	13098235	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acctctacatagatgaagctCacagtattggggccgtgggc	12	10	2	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr20:13098235C>T	ENST00000399002.2	+	8	1289	c.1015C>T	c.(1015-1017)Cac>Tac	p.H339Y	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	339					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)	AGATGAAGCTCACAGTATTGG	0.507													52	762					0	0	1	0	0	T	13098235	C	T	13098235	3	4	8	1	0	0	0	0	1	0	0	0	15181	826	29	2	1045	2	SPTLC3	20	13098235	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	10655816	13098235	49927285	117	756											
PCIF1	63935	broad.mit.edu	37	chr20	44574946	44574946	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcgtcagcttcgagtgcttCgcctcacccctcaactgcta	9	16	3	0			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr20:44574946C>T	ENST00000372409.3	+	14	1900	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	512						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TCGAGTGCTTCGCCTCACCCC	0.642													48	670					0	0	1	0	0	T	44574946	C	T	44574946	2	4	8	1	0	0	0	0	0	0	0	1	11627	883	31	1		1	PCIF1	20	44574946	Silent	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	31476711	44574946	18450574	118	757											
PACSIN2	11252	broad.mit.edu	37	chr22	43272926	43272926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcgtccttctcactgacGgtgctgcccgtgtcgtcctc	11	15	1	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr22:43272926G>A	ENST00000263246.3	-	9	1320	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	PACSIN2_ENST00000407585.1_Intron|PACSIN2_ENST00000402229.1_Silent_p.T373T|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000337959.4_Intron|PACSIN2_ENST00000403744.3_Silent_p.T373T	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	373					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				TCTCACTGACGGTGCTGCCCG	0.567													167	622					0	0	1	0	0	A	43272926	G	A	43272926	2	1	8	1	0	0	0	0	0	0	0	1	11422	1103	39	1		1	PACSIN2	22	43272926	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		43272926	8031640	119	758											
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-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr22:44559756G>A	ENST00000338758.6	+	12	1027	c.964G>A	c.(964-966)Gcc>Acc	p.A322T	PARVB_ENST00000406477.3_Missense_Mutation_p.A355T|PARVB_ENST00000404989.1_Missense_Mutation_p.A285T	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	322	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													30	321					0	0	1	0	0	A	44559756	G	A	44559756	3	1	8	1	0	0	0	0	1	0	0	0	11516	1087	38	1	1229	1	PARVB	22	44559756	Missense_Mutation	SNP	G	TCGA-FZ-5921-01A-11D-1609-08	1286830	44559756	6744810	120	759											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685629	125685629	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaatgggagcccacggcGtacacagacatatcatcaca	11	11	2	1			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chrX:125685629G>A	ENST00000371126.1	-	1	1205	c.963C>T	c.(961-963)taC>taT	p.Y321Y		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	321								p.Y321Y(1)		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						AGCCCACGGCGTACACAGACA	0.597													5	375					0	0	1	0	0	A	125685629	G	A	125685629	2	1	8	1	0	0	0	0	0	0	0	1	4288	1140	40	1		1	DCAF12L1	23	125685629	Silent	SNP	G	TCGA-FZ-5921-01A-11D-1609-08		125685629	29584931	121	760											
FRMD7	90167	broad.mit.edu	37	chrX	131212649	131212649	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttgctggacgcacttTgcttgtgaggccagaatata	11	9	0	2			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chrX:131212649T>G	ENST00000298542.4	-	12	1571	c.1396A>C	c.(1396-1398)Aaa>Caa	p.K466Q	FRMD7_ENST00000370879.1_Missense_Mutation_p.K346Q|FRMD7_ENST00000464296.1_Missense_Mutation_p.K451Q	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	466					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)					GGACGCACTTTGCTTGTGAGG	0.438													85	1055					0	0	1	0	0	G	131212649	T	G	131212649	3	3	8	1	0	0	0	0	1	0	0	0	6090	1821	63	3	752	3	FRMD7	23	131212649	Missense_Mutation	SNP	T	TCGA-FZ-5921-01A-11D-1609-08	5527020	131212649	24057911	122	761											
OPN1LW	5956	broad.mit.edu	37	chrX	153416268	153416268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgaagttcaagaagctgCgccacccgctgaactggatc	10	13	1	3			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chrX:153416268C>T	ENST00000369951.4	+	2	313	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	85					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)					CAAGAAGCTGCGCCACCCGCT	0.562													21	333					0	0	1	0	0	T	153416268	C	T	153416268	3	4	8	1	0	0	0	0	1	0	0	0	10925	768	27	1	259	1	OPN1LW	23	153416268	Missense_Mutation	SNP	C	TCGA-FZ-5921-01A-11D-1609-08	22203619	153416268	1854292	123	762											
ARID1A	8289	broad.mit.edu	37	chr1	27106165	27106165	+	Frame_Shift_Del	DEL	G	G	-													ctagcaccttgaccgaggatGgagctaagagttcagaggcc							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:27106165delG	ENST00000324856.7	+	20	6147	c.5776delG	c.(5776-5778)gafs	p.G1926fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.G1709fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.G254fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.G1543fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1926					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)		GACCGAGGATGGAGCTAAGAG	0.537			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								177	612	---	---	---	---						-	27106165	G	-	27106165	7	5	9	1	0	1	0	1	0	0	0	0	910	1349	47	0	5854	0	ARID1A	1	27106165	Frame_Shift_Del	DEL	G	TCGA-FZ-5922-01A-11D-1609-08		27106165	222144456	1	763											
KCNQ4	9132	broad.mit.edu	37	chr1	41284263	41284263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccgcgctgcgcagcatgCgcttcctgcagatcctgcgc	12	17	0	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:41284263C>T	ENST00000347132.5	+	4	701	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	KCNQ4_ENST00000509682.2_Missense_Mutation_p.R207C	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	207					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)			GCGCAGCATGCGCTTCCTGCA	0.682													5	199					0	0	1	0	0	T	41284263	C	T	41284263	3	4	9	1	0	0	0	0	1	0	0	0	8129	768	27	1	633	1	KCNQ4	1	41284263	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	14178098	41284263	207966358	2	764											
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-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	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													5	426					0	0	1	0	0	A	109865648	G	A	109865648	3	1	9	1	0	0	0	0	1	0	0	0	14989	1086	38	1	589	1	SORT1	1	109865648	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	68581385	109865648	139384973	3	765											
MPZL1	9019	broad.mit.edu	37	chr1	167734835	167734835	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcagtgacagctggagtatCagccttggaagtatatacgc	11	8	2	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:167734835C>T	ENST00000359523.2	+	2	309	c.107C>T	c.(106-108)tCa>tTa	p.S36L	MPZL1_ENST00000392121.3_Missense_Mutation_p.S36L|MPZL1_ENST00000474859.1_Missense_Mutation_p.S36L	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	36	Ig-like V-type.				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					GCTGGAGTATCAGCCTTGGAA	0.433													63	276					0	0	1	0	0	T	167734835	C	T	167734835	3	4	9	1	0	0	0	0	1	0	0	0	9798	838	29	2	113	2	MPZL1	1	167734835	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	57869187	167734835	81515786	4	766											
REN	5972	broad.mit.edu	37	chr1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-													caaaggtacaggagccccagAgcagcagcagcagtccccag					rs142739309		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:204135375_204135377delAGC	ENST00000367195.2	-	1	88_90	c.45_47delGCT	c.(43-48)ctc>ct	p.LL15del	REN_ENST00000272190.8_In_Frame_Del_p.LL15del			P00797	RENI_HUMAN	renin	15					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)	GGAGCCCCAGAGCAGCAGCAGCA	0.581													7	750	---	---	---	---						-	204135377	AGC	-	204135375	7	5	9	1	0	1	0	1	0	0	0	0	13276	304	11	0	1213	0	REN	1	204135375	In_Frame_Del	DEL	AGC	TCGA-FZ-5922-01A-11D-1609-08	36400540	204135375	45115246	5	767											
ACTA1	58	broad.mit.edu	37	chr1	229567782	229567782	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgtctccgggcagcggaagCgctcgttgccgatggtgatg	17	11	1	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:229567782C>A	ENST00000366684.3	-	5	869	c.767G>T	c.(766-768)cGc>cTc	p.R256L	ACTA1_ENST00000366683.2_Missense_Mutation_p.R168L	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	256					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)	GCAGCGGAAGCGCTCGTTGCC	0.716													4	119					1	1	1	1	0	A	229567782	C	A	229567782	3	1	9	1	0	0	0	0	1	0	0	0	191	768	27	4	378	4	ACTA1	1	229567782	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	25432407	229567782	19682839	6	768											
KIF26B	55083	broad.mit.edu	37	chr1	245850589	245850589	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaacagtgcaaagaaagagaTgaaatttgaggacccgtggc	12	6	0	4			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:245850589T>A	ENST00000366518.4	+	9	3265	c.3161T>A	c.(3160-3162)aTg>aAg	p.M1054K	KIF26B_ENST00000407071.2_Missense_Mutation_p.M1435K			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1435					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)			AAGAAAGAGATGAAATTTGAG	0.552													19	70					0	0	1	0	0	A	245850589	T	A	245850589	3	1	9	1	0	0	0	0	1	0	0	0	8337	1464	51	5	4350	5	KIF26B	1	245850589	Missense_Mutation	SNP	T	TCGA-FZ-5922-01A-11D-1609-08	16282807	245850589	3400032	7	769											
KIF3C	3797	broad.mit.edu	37	chr2	26203464	26203466	+	In_Frame_Del	DEL	GTT	GTT	-													atgggctggggcgggcggtgGttgttgttgttgtcatcctc							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:26203464_26203466delGTT	ENST00000264712.3	-	1	1900_1902	c.1321_1323delAAC	c.(1321-1323)del	p.N441del	KIF3C_ENST00000405914.1_In_Frame_Del_p.N441del	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	441	Poly-Asn.				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)					GCGGGCGGTGGTTGTTGTTGTTG	0.621													7	1119	---	---	---	---						-	26203466	GTT	-	26203464	7	5	9	1	0	1	0	1	0	0	0	0	8344	1252	44	0	1090	0	KIF3C	2	26203464	In_Frame_Del	DEL	GTT	TCGA-FZ-5922-01A-11D-1609-08		26203464	216995909	8	770											
DGUOK	1716	broad.mit.edu	37	chr2	74184338	74184338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagctgcatggccaacaCgaagcctggcttattcacaa	10	12	1	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:74184338C>T	ENST00000264093.4	+	5	763	c.678C>T	c.(676-678)caC>caT	p.H226H	DGUOK_ENST00000356837.6_Silent_p.H204H|DGUOK_ENST00000348222.1_Intron|DGUOK-AS1_ENST00000453103.1_RNA|DGUOK_ENST00000462685.1_Intron	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	226					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						ATGGCCAACACGAAGCCTGGC	0.478													38	187					0	0	1	0	0	T	74184338	C	T	74184338	2	4	9	1	0	0	0	0	0	0	0	1	4503	535	19	1		1	DGUOK	2	74184338	Silent	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	47980874	74184338	169015035	9	771											
MRPL35	51318	broad.mit.edu	37	chr2	86433365	86433366	+	Frame_Shift_Ins	INS	-	-	A													tttcctccactcccagacttINSaccacatctgagagaaacct							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:86433365_86433366insA	ENST00000337109.4	+	2	214_215	c.180_181insA	c.(178-183)ctccacfs	p.H61fs	MRPL35_ENST00000409180.1_Frame_Shift_Ins_p.H61fs|MRPL35_ENST00000254644.8_Frame_Shift_Ins_p.H61fs|MRPL35_ENST00000605125.1_Frame_Shift_Ins_p.H61fs	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	61					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						CTCCCAGACTTACCACATCTGA	0.406													169	905	---	---	---	---						A	86433366	-	A	86433365	7	5	9	1	0	1	1	0	0	0	0	0	9847	1741	61	0	186	0	MRPL35	2	86433365	Frame_Shift_Ins	INS	-	TCGA-FZ-5922-01A-11D-1609-08	12249027	86433365	156766008	10	772											
THSD7B	80731	broad.mit.edu	37	chr2	138169334	138169334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcctcaccgaggactgCgggtacaagcagacagcaaa	14	11	1	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:138169334C>T	ENST00000409968.1	+	14	3029	c.2851C>T	c.(2851-2853)Cgg>Tgg	p.R951W	THSD7B_ENST00000413152.2_Missense_Mutation_p.R920W|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.R951W					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)		CCGAGGACTGCGGGTACAAGC	0.488													7	666					0	0	1	0	0	T	138169334	C	T	138169334	3	4	9	1	0	0	0	0	1	0	0	0	15940	759	27	1	2808	1	THSD7B	2	138169334	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	51735969	138169334	105030039	11	773											
RBM43	375287	broad.mit.edu	37	chr2	152112048	152112048	+	Splice_Site	DEL	T	T	-													aaatttgacttggaaataccTtttttttctttgaatattac							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:152112048delT	ENST00000331426.5	-	2	364	c.214_splice	c.e2+1	p.K71_splice		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	71	RRM.						nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TGGAAATACCTTTTTTTTCTT	0.289													7	852	---	---	---	---						-	152112048	T	-	152112048	8	5	9	1	0	1	0	1	0	0	1	0	13189	1623	56	0	872	0	RBM43	2	152112048	Splice_Site	DEL	T	TCGA-FZ-5922-01A-11D-1609-08	13942714	152112048	91087325	12	774											
PPIG	9360	broad.mit.edu	37	chr2	170493804	170493804	+	Frame_Shift_Del	DEL	A	A	-													tagctcaaataacagcagggAaaaaaaggctgatagagatc							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:170493804delA	ENST00000260970.3	+	14	2256	c.2036delA	c.(2035-2037)gafs	p.E679fs	PPIG_ENST00000448752.2_Frame_Shift_Del_p.E679fs|PPIG_ENST00000409714.3_Frame_Shift_Del_p.E664fs	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	679					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)	AACAGCAGGGAAAAAAAGGCT	0.358													7	451	---	---	---	---						-	170493804	A	-	170493804	7	5	9	1	0	1	0	1	0	0	0	0	12373	246	9	0	2082	0	PPIG	2	170493804	Frame_Shift_Del	DEL	A	TCGA-FZ-5922-01A-11D-1609-08	18381756	170493804	72705569	13	775											
GMPPA	29926	broad.mit.edu	37	chr2	220371072	220371072	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccagtgaccctaaccccaacGatccccgagcccgcatggac	8	19	0	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:220371072G>T	ENST00000358215.3	+	12	1459	c.1090G>T	c.(1090-1092)Gat>Tat	p.D364Y	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.D364Y|GMPPA_ENST00000373917.3_Missense_Mutation_p.D417Y|GMPPA_ENST00000341142.3_Missense_Mutation_p.D364Y|GMPPA_ENST00000313597.5_Missense_Mutation_p.D364Y	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	364					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)		TAACCCCAACGATCCCCGAGC	0.657													89	376					6.71967e-41	7.2402e-41	1	1	0	T	220371072	G	T	220371072	3	4	9	1	0	0	0	0	1	0	0	0	6536	1058	37	4	1132	4	GMPPA	2	220371072	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	49877268	220371072	22828301	14	776											
ECEL1	9427	broad.mit.edu	37	chr2	233351013	233351013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcatgggtcgatgctggcGtccaggttggcggccaggaa	18	9	0	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:233351013G>A	ENST00000304546.1	-	2	561	c.351C>T	c.(349-351)gaC>gaT	p.D117D	ECEL1_ENST00000409941.1_Silent_p.D117D	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	117					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)		CGATGCTGGCGTCCAGGTTGG	0.726													13	70					0	0	1	0	0	A	233351013	G	A	233351013	2	1	9	1	0	0	0	0	0	0	0	1	4917	1136	40	1		1	ECEL1	2	233351013	Silent	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	12979941	233351013	9848360	15	777											
UGT1A3	0	broad.mit.edu	37	chr2	234637991	234637991	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgcacatcaaagaagagaaCtttttcaccctgacaaccta	5	11	2	3			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:234637991C>A	ENST00000482026.1	+	1	238	c.219C>A	c.(217-219)aaC>aaA	p.N73K	UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		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;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AAGAAGAGAACTTTTTCACCC	0.517													8	644					5.18039e-06	5.31946e-06	1	1	0	A	234637991	C	A	234637991	3	1	9	1	0	0	0	0	1	0	0	0	17006	564	20	2	221	2	UGT1A3	2	234637991	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	1286978	234637991	8561382	16	778											
CTNNB1	1499	broad.mit.edu	37	chr3	41277892	41277892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagctgcaggggtcctctGtgaacttgctcaggacaagg	14	9	2	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:41277892G>A	ENST00000349496.5	+	12	2136	c.1856G>A	c.(1855-1857)tGt>tAt	p.C619Y	CTNNB1_ENST00000396183.3_Missense_Mutation_p.C619Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.C612Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.C619Y|CTNNB1_ENST00000396185.3_Missense_Mutation_p.C619Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	619					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.C619Y(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)	GGGGTCCTCTGTGAACTTGCT	0.438		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				176	812					0	0	1	0	0	A	41277892	G	A	41277892	3	1	9	1	0	0	0	0	1	0	0	0	4040	1377	48	2	1898	2	CTNNB1	3	41277892	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08		41277892	156744538	17	779											
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-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	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													8	865					0	0	1	0	0	T	47618421	C	T	47618421	2	4	9	1	0	0	0	0	0	0	0	1	3986	726	26	2		2	CSPG5	3	47618421	Silent	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	6340529	47618421	150404009	18	780											
BAP1	8314	broad.mit.edu	37	chr3	52439312	52439312	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgcctcctctgcaccatcTgagacagggcaagaacacag	10	15	2	2	rs112194987		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:52439312T>G	ENST00000460680.1	-	11	1403		c.e11-2		BAP1_ENST00000296288.5_Splice_Site	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						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)		CTGCACCATCTGAGACAGGGC	0.587			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							157	515					0	0	1	0	0	G	52439312	T	G	52439312	5	3	9	1	0	0	0	0	0	0	1	0	1309	1594	55	3	1287	3	BAP1	3	52439312	Splice_Site	SNP	T	TCGA-FZ-5922-01A-11D-1609-08	4820891	52439312	145583118	19	781											
DRD3	1814	broad.mit.edu	37	chr3	113890593	113890593	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtataccacccagggcaTcaccaaggtggccaccagca	10	15	1	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:113890593T>C	ENST00000383673.2	-	2	677	c.247A>G	c.(247-249)Atg>Gtg	p.M83V	DRD3_ENST00000295881.7_Missense_Mutation_p.M83V|DRD3_ENST00000467632.1_Missense_Mutation_p.M83V|DRD3_ENST00000460779.1_Missense_Mutation_p.M83V	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	83					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)	ACCCAGGGCATCACCAAGGTG	0.557													7	740					0	0	1	0	0	C	113890593	T	C	113890593	3	2	9	1	0	0	0	0	1	0	0	0	4784	1435	50	3	979	3	DRD3	3	113890593	Missense_Mutation	SNP	T	TCGA-FZ-5922-01A-11D-1609-08	61451281	113890593	84131837	20	782											
RAB6B	51560	broad.mit.edu	37	chr3	133560230	133560230	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgtgtcccagagctgcagtCgcacctgtctcagggagggc	14	13	1	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:133560230C>G	ENST00000285208.4	-	4	537	c.188G>C	c.(187-189)cGa>cCa	p.R63P	RAB6B_ENST00000543906.1_Missense_Mutation_p.R63P|RAB6B_ENST00000486858.1_Missense_Mutation_p.R50P|RAB6B_ENST00000469959.1_Intron	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	63					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						GAGCTGCAGTCGCACCTGTCT	0.647													69	353					0	0	1	0	0	G	133560230	C	G	133560230	3	3	9	1	0	0	0	0	1	0	0	0	13004	884	31	5	458	5	RAB6B	3	133560230	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	19669637	133560230	64462200	21	783											
TNIK	23043	broad.mit.edu	37	chr3	170783996	170783996	+	Frame_Shift_Del	DEL	G	G	-													cttatcatttctttcacataGaaactttaacctttgagctc							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:170783996delG	ENST00000436636.2	-	32	4323	c.3979delC	c.(3979-3981)tafs	p.L1327fs	TNIK_ENST00000470834.1_Frame_Shift_Del_p.L1290fs|TNIK_ENST00000538048.1_Frame_Shift_Del_p.L1279fs|TNIK_ENST00000369326.5_Frame_Shift_Del_p.L1305fs|TNIK_ENST00000460047.1_Frame_Shift_Del_p.L1264fs|TNIK_ENST00000488470.1_Frame_Shift_Del_p.L1272fs|TNIK_ENST00000475336.1_Frame_Shift_Del_p.L1235fs|TNIK_ENST00000341852.6_Frame_Shift_Del_p.L1243fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.L1298fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.L1319fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1327	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)			CTTTCACATAGAAACTTTAAC	0.393													67	434	---	---	---	---						-	170783996	G	-	170783996	7	5	9	1	0	1	0	1	0	0	0	0	16373	933	33	0	111	0	TNIK	3	170783996	Frame_Shift_Del	DEL	G	TCGA-FZ-5922-01A-11D-1609-08	37223766	170783996	27238434	22	784											
USP13	8975	broad.mit.edu	37	chr3	179472528	179472528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcattttgcagatgtttctAttgatatgccagacctactt	6	9	2	3			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:179472528A>G	ENST00000263966.3	+	15	2278	c.1807A>G	c.(1807-1809)Att>Gtt	p.I603V	USP13_ENST00000482333.1_Intron|USP13_ENST00000496897.1_Missense_Mutation_p.I538V	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	603					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)			AGATGTTTCTATTGATATGCC	0.443													16	692					0	0	1	0	0	G	179472528	A	G	179472528	3	3	9	1	0	0	0	0	1	0	0	0	17104	449	16	3	1865	3	USP13	3	179472528	Missense_Mutation	SNP	A	TCGA-FZ-5922-01A-11D-1609-08	8688532	179472528	18549902	23	785											
LIAS	11019	broad.mit.edu	37	chr4	39462521	39462521	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagattttgtatctggtgatCttgcagacaggagcacctgg	12	7	2	3			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:39462521C>G	ENST00000261434.3	+	2	275	c.157C>G	c.(157-159)Ctt>Gtt	p.L53V	LIAS_ENST00000513731.1_Missense_Mutation_p.L53V|LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000381846.1_Missense_Mutation_p.L53V|LIAS_ENST00000340169.2_Missense_Mutation_p.L53V	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN	lipoic acid synthetase	53					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	ATCTGGTGATCTTGCAGACAG	0.403													134	635					0	0	1	0	0	G	39462521	C	G	39462521	3	3	9	1	0	0	0	0	1	0	0	0	8818	913	32	5	163	5	LIAS	4	39462521	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08		39462521	151691755	24	786											
SCFD2	152579	broad.mit.edu	37	chr4	54231749	54231749	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatctcggccgctgccgcCgctgggacatgattagctgt	12	14	1	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:54231749C>T	ENST00000401642.3	-	1	493	c.360G>A	c.(358-360)gcG>gcA	p.A120A	SCFD2_ENST00000388940.4_Silent_p.A120A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	120	Poly-Ala.				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)			CCGCTGCCGCCGCTGGGACAT	0.592													72	251					0	0	1	0	0	T	54231749	C	T	54231749	2	4	9	1	0	0	0	0	0	0	0	1	13943	639	23	1		1	SCFD2	4	54231749	Silent	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	14769228	54231749	136922527	25	787											
BTC	685	broad.mit.edu	37	chr4	75681140	75681140	+	Frame_Shift_Del	DEL	G	G	-													cagtaatgcttgtattgcttGgggcacctagagaagtggcc							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:75681140delG	ENST00000395743.3	-	3	570	c.210delC	c.(208-210)ccfs	p.P70fs		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	70	EGF-like.				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			TGTATTGCTTGGGGCACCTAG	0.473													7	1362	---	---	---	---						-	75681140	G	-	75681140	7	5	9	1	0	1	0	1	0	0	0	0	1552	1335	47	0	338	0	BTC	4	75681140	Frame_Shift_Del	DEL	G	TCGA-FZ-5922-01A-11D-1609-08	21449391	75681140	115473136	26	788											
DSPP	1834	broad.mit.edu	37	chr4	88534045	88534045	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacaccaggcactggagaagAtgctggcctggataattccg	12	10	0	2			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:88534045A>T	ENST00000399271.1	+	4	827	c.707A>T	c.(706-708)gAt>gTt	p.D236V	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.D236V	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	236					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)		ACTGGAGAAGATGCTGGCCTG	0.473													56	222					0	0	1	0	0	T	88534045	A	T	88534045	3	4	9	1	0	0	0	0	1	0	0	0	4808	333	12	5	717	5	DSPP	4	88534045	Missense_Mutation	SNP	A	TCGA-FZ-5922-01A-11D-1609-08	12852905	88534045	102620231	27	789											
DCHS2	54798	broad.mit.edu	37	chr4	155176731	155176731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttatcacaccactcagtGcatcaatctggaatgcttct	6	11	5	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:155176731G>A	ENST00000357232.3	-	21	5515	c.5516C>T	c.(5515-5517)gCa>gTa	p.A1839V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1839	Cadherin 16.				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)		ACCACTCAGTGCATCAATCTG	0.458													46	197					0	0	1	0	0	A	155176731	G	A	155176731	3	1	9	1	0	0	0	0	1	0	0	0	4311	1319	46	2	3254	2	DCHS2	4	155176731	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	66642686	155176731	35977545	28	790											
PCDHA9	0	broad.mit.edu	37	chr5	140230590	140230590	+	Frame_Shift_Del	DEL	T	T	-													ttttctagaaatccagcagaTtttttttctgataaagtaaa					rs17844337		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr5:140230590delT	ENST00000378122.3	+	1	3234	c.2510delT	c.(2509-2511)atfs	p.I837fs	PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_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)			ATCCAGCAGATTTTTTTTCTG	0.279													11	1719	---	---	---	---						-	140230590	T	-	140230590	7	5	9	1	0	1	0	1	0	0	0	0	11578	1493	52	0	2512	0	PCDHA9	5	140230590	Frame_Shift_Del	DEL	T	TCGA-FZ-5922-01A-11D-1609-08		140230590	40684670	29	791											
PCDHB2	0	broad.mit.edu	37	chr5	140476009	140476009	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccccggcgttgagcagCgaggcgctggtgcgcgtgct	18	13	0	1	rs147433427		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr5:140476009C>T	ENST00000194155.4	+	1	1783	c.1635C>T	c.(1633-1635)agC>agT	p.S545S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		545	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)			CGTTGAGCAGCGAGGCGCTGG	0.706													43	376					0	0	1	0	0	T	140476009	C	T	140476009	2	4	9	1	0	0	0	0	0	0	0	1	11589	767	27	1		1	PCDHB2	5	140476009	Silent	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	245419	140476009	40439251	30	792											
FAT2	2196	broad.mit.edu	37	chr5	150911268	150911268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctccgtgccaggtggggCgtcctcgggcacctgcacgc	14	17	0	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr5:150911268C>T	ENST00000261800.5	-	13	9703	c.9691G>A	c.(9691-9693)Gcc>Acc	p.A3231T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3231	Cadherin 29.				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)			CCAGGTGGGGCGTCCTCGGGC	0.677													44	225					0	0	1	0	0	T	150911268	C	T	150911268	3	4	9	1	0	0	0	0	1	0	0	0	5723	768	27	1	3402	1	FAT2	5	150911268	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	10435259	150911268	30003992	31	793											
NUP153	9972	broad.mit.edu	37	chr6	17688753	17688753	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaacctcgcttgtgtctgTtgaacagctgcatacatctt	9	10	2	1	rs138192099		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:17688753T>C	ENST00000262077.2	-	2	207	c.208A>G	c.(208-210)Aca>Gca	p.T70A	NUP153_ENST00000537253.1_Missense_Mutation_p.T70A	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	70					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)			CTTGTGTCTGTTGAACAGCTG	0.443													41	721					0	0	1	0	0	C	17688753	T	C	17688753	3	2	9	1	0	0	0	0	1	0	0	0	10803	1725	60	3	4303	3	NUP153	6	17688753	Missense_Mutation	SNP	T	TCGA-FZ-5922-01A-11D-1609-08		17688753	153426314	32	794											
RING1	6015	broad.mit.edu	37	chr6	33180151	33180151	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggccactggagctgtgctAtgctcccaccaaggatccaa	10	15	0	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:33180151A>G	ENST00000374656.4	+	7	1404	c.1196A>G	c.(1195-1197)tAt>tGt	p.Y399C	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	399	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						GAGCTGTGCTATGCTCCCACC	0.577													10	34					0	0	1	0	0	G	33180151	A	G	33180151	3	3	9	1	0	0	0	0	1	0	0	0	13426	449	16	3	1218	3	RING1	6	33180151	Missense_Mutation	SNP	A	TCGA-FZ-5922-01A-11D-1609-08	15491398	33180151	137934916	33	795											
COL12A1	1303	broad.mit.edu	37	chr6	75840656	75840656	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagtgtgtccggaatcagCcgctccagatgcaccatgcg	12	12	1	2			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:75840656C>T	ENST00000322507.8	-	36	6288	c.5979G>A	c.(5977-5979)cgG>cgA	p.R1993R	COL12A1_ENST00000345356.6_Silent_p.R829R|COL12A1_ENST00000483888.2_Silent_p.R1993R|COL12A1_ENST00000416123.2_Silent_p.R1993R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1993	Fibronectin type-III 15.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.R1993R(1)		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						CCGGAATCAGCCGCTCCAGAT	0.537													5	387					0	0	1	0	0	T	75840656	C	T	75840656	2	4	9	1	0	0	0	0	0	0	0	1	3692	726	26	2		2	COL12A1	6	75840656	Silent	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	42660505	75840656	95274411	34	796											
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-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_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													5	473					0	0	1	0	0	A	150715311	G	A	150715311	3	1	9	1	0	0	0	0	1	0	0	0	7976	1087	38	1	621	1	IYD	6	150715311	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	74874655	150715311	20399756	35	797											
MAP3K4	4216	broad.mit.edu	37	chr6	161529826	161529826	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggaaactgcagacgaaTtgaaaatattcgaaggcatc	9	7	1	2			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:161529826T>C	ENST00000392142.4	+	22	4319	c.4171T>C	c.(4171-4173)Ttg>Ctg	p.L1391L	MAP3K4_ENST00000366919.2_Silent_p.L1341L|MAP3K4_ENST00000366920.2_Silent_p.L1387L|MAP3K4_ENST00000348824.7_Silent_p.L1337L	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1391	Protein kinase.				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)		TGCAGACGAATTGAAAATATT	0.408													167	579					0	0	1	0	0	C	161529826	T	C	161529826	2	2	9	1	0	0	0	0	0	0	0	1	9302	1490	52	3		3	MAP3K4	6	161529826	Silent	SNP	T	TCGA-FZ-5922-01A-11D-1609-08	10814515	161529826	9585241	36	798											
SUN1	23353	broad.mit.edu	37	chr7	897577	897577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaccggctgtgagacagtgGatgccgtacaagaaagagtg	15	7	0	4			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:897577G>A	ENST00000456758.2	+	19	2074	c.2074G>A	c.(2074-2076)Gat>Aat	p.D692N	SUN1_ENST00000452783.2_Missense_Mutation_p.D400N|SUN1_ENST00000413514.2_Missense_Mutation_p.D301N|SUN1_ENST00000425407.2_Missense_Mutation_p.D420N|SUN1_ENST00000389574.3_Missense_Mutation_p.D420N|SUN1_ENST00000405266.1_Missense_Mutation_p.D540N|SUN1_ENST00000401592.1_Missense_Mutation_p.D503N			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	530	SUN.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	p.D420N(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGAGACAGTGGATGCCGTACA	0.458													168	788					0	0	1	0	0	A	897577	G	A	897577	3	1	9	1	0	0	0	0	1	0	0	0	15447	1174	41	2	1740	2	SUN1	7	897577	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08		897577	158241086	37	799											
NDUFA4	4697	broad.mit.edu	37	chr7	10979660	10979660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgctcggatgcttcttggCctgaccgatgatctggcgga	13	11	2	2			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:10979660C>T	ENST00000339600.5	-	1	223	c.25G>A	c.(25-27)Gcc>Acc	p.A9T	NDUFA4_ENST00000492822.1_5'UTR	NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa	9					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)	TGCTTCTTGGCCTGACCGATG	0.552													89	1070					0	0	1	0	0	T	10979660	C	T	10979660	3	4	9	1	0	0	0	0	1	0	0	0	10313	739	26	2	236	2	NDUFA4	7	10979660	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	10082083	10979660	148159003	38	800											
ZNF107	51427	broad.mit.edu	37	chr7	64166850	64166850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtggatgagtgtacgggGcacaaaggaggtcataatac	14	6	1	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:64166850G>A	ENST00000395391.1	+	4	1543	c.168G>A	c.(166-168)ggG>ggA	p.G56G	ZNF107_ENST00000344930.3_Silent_p.G56G|ZNF107_ENST00000423627.1_Silent_p.G56G			Q9UII5	ZN107_HUMAN	zinc finger protein 107	56					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)				AGTGTACGGGGCACAAAGGAG	0.348													5	354					0	0	1	0	0	A	64166850	G	A	64166850	2	1	9	1	0	0	0	0	0	0	0	1	17773	1190	42	2		2	ZNF107	7	64166850	Silent	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	53187190	64166850	94971813	39	801											
HYAL4	23553	broad.mit.edu	37	chr7	123508827	123508827	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agatgtttacagacagaagtCaagaaagcttatttccgata	8	6	1	4			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:123508827C>G	ENST00000223026.4	+	3	1138	c.500C>G	c.(499-501)tCa>tGa	p.S167*	HYAL4_ENST00000476325.1_Nonsense_Mutation_p.S167*	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	167					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						AGACAGAAGTCAAGAAAGCTT	0.408													113	496					0	0	1	0	0	G	123508827	C	G	123508827	4	3	9	1	0	0	0	0	0	1	0	0	7510	838	29	5	502	5	HYAL4	7	123508827	Nonsense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	59341977	123508827	35629836	40	802											
GRM8	0	broad.mit.edu	37	chr7	126173847	126173847	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagcagcaagggacccctTtcaccgttttcttcctctcc	7	17	3	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:126173847T>G	ENST00000339582.2	-	9	2397	c.1589A>C	c.(1588-1590)aAa>aCa	p.K530T	GRM8_ENST00000358373.3_Missense_Mutation_p.K530T|GRM8_ENST00000444921.2_Missense_Mutation_p.K530T|GRM8_ENST00000480995.1_Intron			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	530					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)	AGGGACCCCTTTCACCGTTTT	0.557										HNSCC(24;0.065)			17	669					0	0	1	0	0	G	126173847	T	G	126173847	3	3	9	1	0	0	0	0	1	0	0	0	6844	1841	64	3	1199	3	GRM8	7	126173847	Missense_Mutation	SNP	T	TCGA-FZ-5922-01A-11D-1609-08	2665020	126173847	32964816	41	803											
TNPO3	23534	broad.mit.edu	37	chr7	128658021	128658021	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggatttacctgcgttacaAtaacaggtgacaagtctttc	8	9	1	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:128658021A>T	ENST00000393245.1	-	2	684	c.311T>A	c.(310-312)aTt>aAt	p.I104N	TNPO3_ENST00000265388.5_Missense_Mutation_p.I104N|TNPO3_ENST00000471166.1_Missense_Mutation_p.I104N|TNPO3_ENST00000482320.1_Missense_Mutation_p.I38N|TNPO3_ENST00000471234.1_Missense_Mutation_p.I104N	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	104					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CTGCGTTACAATAACAGGTGA	0.408													64	303					0	0	1	0	0	T	128658021	A	T	128658021	3	4	9	1	0	0	0	0	1	0	0	0	16397	101	4	5	2544	5	TNPO3	7	128658021	Missense_Mutation	SNP	A	TCGA-FZ-5922-01A-11D-1609-08	2484174	128658021	30480642	42	804											
EPHB6	0	broad.mit.edu	37	chr7	142562188	142562188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacccaacgcggcttctaCgtggccttccaggacacggg	11	16	2	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:142562188C>T	ENST00000392957.2	+	7	1417	c.630C>T	c.(628-630)taC>taT	p.Y210Y	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.Y210Y	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	210						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)					GCGGCTTCTACGTGGCCTTCC	0.657													27	1379					0	0	1	0	0	T	142562188	C	T	142562188	2	4	9	1	0	0	0	0	0	0	0	1	5206	547	19	1		1	EPHB6	7	142562188	Silent	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	13904167	142562188	16576475	43	805											
PXDNL	137902	broad.mit.edu	37	chr8	52384793	52384793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggggtttccttccgcccGgcaggtgaagtagacggtat	14	9	0	2			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr8:52384793G>A	ENST00000356297.4	-	8	866	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	PXDNL_ENST00000543296.1_Missense_Mutation_p.R256W	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	256	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)				CCTTCCGCCCGGCAGGTGAAG	0.443													6	660					0	0	1	0	0	A	52384793	G	A	52384793	3	1	9	1	0	0	0	0	1	0	0	0	12900	1115	39	1	3689	1	PXDNL	8	52384793	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08		52384793	93979229	44	806											
OSR2	116039	broad.mit.edu	37	chr8	99961401	99961402	+	Frame_Shift_Ins	INS	-	-	G													accatcacggagatggcggcINSggcgcagggcctcgtggacg							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr8:99961401_99961402insG	ENST00000297565.4	+	2	717_718	c.221_222insG	c.(220-222)ggcfs	p.G74fs	OSR2_ENST00000435298.2_Frame_Shift_Ins_p.G74fs|OSR2_ENST00000457907.2_Frame_Shift_Ins_p.G195fs|OSR2_ENST00000522510.1_Frame_Shift_Ins_p.G74fs|OSR2_ENST00000523368.1_Frame_Shift_Ins_p.G74fs	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	74					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)			GAGATGGCGGCGGCGCAGGGCC	0.649													7	750	---	---	---	---						G	99961402	-	G	99961401	7	5	9	1	0	1	1	0	0	0	0	0	11341	768	27	0	223	0	OSR2	8	99961401	Frame_Shift_Ins	INS	-	TCGA-FZ-5922-01A-11D-1609-08	47576608	99961401	46402621	45	807											
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-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr9:78790148G>A	ENST00000376767.3	+	14	2515	c.2003G>A	c.(2002-2004)gGa>gAa	p.G668E	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						aaatggaatggaatgaaatgg	0.413													4	114					0	0	1	0	0	A	78790148	G	A	78790148	3	1	9	1	0	0	0	0	1	0	0	0	11650	1189	41	2		2	PCSK5	9	78790148	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08		78790148	62423283	46	808											
PSAT1	29968	broad.mit.edu	37	chr9	80943962	80943962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagacgttcagaagctggCcgccttcatgaaaaaatttt	9	8	2	4			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr9:80943962C>T	ENST00000376588.3	+	9	1141	c.1073C>T	c.(1072-1074)gCc>gTc	p.A358V	PSAT1_ENST00000347159.2_Missense_Mutation_p.A312V	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	358					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			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)	CAGAAGCTGGCCGCCTTCATG	0.418													6	420					0	0	1	0	0	T	80943962	C	T	80943962	3	4	9	1	0	0	0	0	1	0	0	0	12693	739	26	2	1107	2	PSAT1	9	80943962	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	2153814	80943962	60269469	47	809											
XPA	7507	broad.mit.edu	37	chr9	100455962	100455964	+	In_Frame_Del	DEL	TTC	TTC	-													acaacttttccaattttctgTtcttcttcttcttcctcttc					rs3176652		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr9:100455962_100455964delTTC	ENST00000375128.4	-	2	314_316	c.250_252delGAA	c.(250-252)del	p.E84del		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	84	Interaction with CEP164 and required for UV resistance.|Poly-Glu.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity	p.E84*(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CAATTTTCTGTTCTTCTTCTTCT	0.34			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				8	531	---	---	---	---						-	100455964	TTC	-	100455962	7	5	9	1	0	1	0	1	0	0	0	0	17500	1722	60	0	589	0	XPA	9	100455962	In_Frame_Del	DEL	TTC	TCGA-FZ-5922-01A-11D-1609-08	19512000	100455962	40757469	48	810											
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-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	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													53	165					0	0	1	0	0	A	101911535	G	A	101911535	3	1	9	1	0	0	0	0	1	0	0	0	15881	1116	39	1	1494	1	TGFBR1	9	101911535	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	1455573	101911535	39301896	49	811											
GRIN3A	116443	broad.mit.edu	37	chr9	104432526	104432526	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgccaaacaagagggcataaCagatgttcaaggctgaagaa	11	7	1	4			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr9:104432526C>G	ENST00000361820.3	-	3	2768	c.2168G>C	c.(2167-2169)tGt>tCt	p.C723S		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	723					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)	GAGGGCATAACAGATGTTCAA	0.433													6	610					0	0	1	0	0	G	104432526	C	G	104432526	3	3	9	1	0	0	0	0	1	0	0	0	6824	478	17	5	1207	5	GRIN3A	9	104432526	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	2520991	104432526	36780905	50	812											
GDI2	2665	broad.mit.edu	37	chr10	5808002	5808002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagatgtcattcttcttgcgCttcatttcctcaaagtcaaa	5	10	6	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:5808002C>T	ENST00000380191.4	-	11	1595	c.1305G>A	c.(1303-1305)aaG>aaA	p.K435K	GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380181.3_Silent_p.K390K|GDI2_ENST00000380132.4_Silent_p.K439K	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	435					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						TCTTCTTGCGCTTCATTTCCT	0.348													145	770					0	0	1	0	0	T	5808002	C	T	5808002	2	4	9	1	0	0	0	0	0	0	0	1	6363	796	28	2		2	GDI2	10	5808002	Silent	SNP	C	TCGA-FZ-5922-01A-11D-1609-08		5808002	129726745	51	813											
IL2RA	3559	broad.mit.edu	37	chr10	6067953	6067953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccatggctttgaatgtggCgtgtgggatctctggcgggt	18	7	1	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:6067953C>T	ENST00000379959.3	-	2	273	c.100G>A	c.(100-102)Gcc>Acc	p.A34T	RP11-536K7.5_ENST00000440436.1_RNA|IL2RA_ENST00000256876.6_Missense_Mutation_p.A34T|IL2RA_ENST00000379954.1_Missense_Mutation_p.A34T	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	34	Sushi 1.				cell proliferation	integral to membrane	interleukin-2 receptor activity			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)	TTGAATGTGGCGTGTGGGATC	0.478													70	339					0	0	1	0	0	T	6067953	C	T	6067953	3	4	9	1	0	0	0	0	1	0	0	0	7730	768	27	1	746	1	IL2RA	10	6067953	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	259951	6067953	129466794	52	814											
TMEM26	219623	broad.mit.edu	37	chr10	63170199	63170199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccactctcagaggtctgtgCccggcaaccatgttctcctt	8	16	3	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:63170199C>T	ENST00000399298.3	-	6	1356	c.988G>A	c.(988-990)Gca>Aca	p.A330T	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	330						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GAGGTCTGTGCCCGGCAACCA	0.597													7	421					0	0	1	0	0	T	63170199	C	T	63170199	3	4	9	1	0	0	0	0	1	0	0	0	16211	739	26	2	122	2	TMEM26	10	63170199	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	57102246	63170199	72364548	53	815											
PRF1	5551	broad.mit.edu	37	chr10	72358622	72358624	+	In_Frame_Del	DEL	CTT	CTT	-													aaggaggccgtcatcttgtgCttcttcttcttctcctcaca							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:72358622_72358624delCTT	ENST00000441259.1	-	3	1013_1015	c.853_855delAAG	c.(853-855)del	p.K285del	PRF1_ENST00000373209.2_In_Frame_Del_p.K285del	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	285	MACPF.		Missing (in FHL2).		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						TCATCTTGTGCTTCTTCTTCTTC	0.591			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				9	647	---	---	---	---						-	72358624	CTT	-	72358622	7	5	9	1	0	1	0	1	0	0	0	0	12530	796	28	0	816	0	PRF1	10	72358622	In_Frame_Del	DEL	CTT	TCGA-FZ-5922-01A-11D-1609-08	9188423	72358622	63176125	54	816											
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-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	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													6	417					0	0	1	0	0	A	94110927	G	A	94110927	3	1	9	1	0	0	0	0	1	0	0	0	9354	1087	38	1	822	1	MARCH5	10	94110927	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	21752305	94110927	41423820	55	817											
PTPRE	5791	broad.mit.edu	37	chr10	129847884	129847884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacctggaggaggagatccGtatcagatccgccgacgact	13	12	1	2			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:129847884G>A	ENST00000254667.3	+	6	653	c.374G>A	c.(373-375)cGt>cAt	p.R125H	PTPRE_ENST00000419012.2_Missense_Mutation_p.R125H|PTPRE_ENST00000471218.1_Silent_p.P123P|PTPRE_ENST00000430713.2_Missense_Mutation_p.R125H|PTPRE_ENST00000306042.5_Missense_Mutation_p.R67H	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	125					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)				GAGGAGATCCGTATCAGATCC	0.587													91	406					0	0	1	0	0	A	129847884	G	A	129847884	3	1	9	1	0	0	0	0	1	0	0	0	12852	1145	40	1	427	1	PTPRE	10	129847884	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	35736957	129847884	5686863	56	818											
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-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	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													8	746					0	0	1	0	0	A	58892674	G	A	58892674	2	1	9	1	0	0	0	0	0	0	0	1	5431	1074	38	1		1	FAM111B	11	58892674	Silent	SNP	G	TCGA-FZ-5922-01A-11D-1609-08		58892674	76113842	57	819											
CD5	921	broad.mit.edu	37	chr11	60892527	60892527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttccatcgcaaccacacgGcaaccgtccgatcccatgct	6	18	0	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr11:60892527G>A	ENST00000347785.3	+	9	1469	c.1303G>A	c.(1303-1305)Gca>Aca	p.A435T		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	435					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)		CAACCACACGGCAACCGTCCG	0.567													5	368					0	0	1	0	0	A	60892527	G	A	60892527	3	1	9	1	0	0	0	0	1	0	0	0	3043	1203	42	2	1337	2	CD5	11	60892527	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	1999853	60892527	74113989	58	820											
FADS2	9415	broad.mit.edu	37	chr11	61607885	61607887	+	In_Frame_Del	DEL	TCC	TCC	-													caagaccaaccacgtgttctTcctcctcctcctggcccaca							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr11:61607885_61607887delTCC	ENST00000278840.4	+	3	1028_1030	c.398_400delTCC	c.(397-402)ttc>t	p.FL133del	FADS2_ENST00000521849.1_In_Frame_Del_p.FL133del|FADS2_ENST00000522056.1_In_Frame_Del_p.FL102del|FADS2_ENST00000257261.6_In_Frame_Del_p.FL111del	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	133					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CACGTGTTCTTCCTCCTCCTCCT	0.537													7	1326	---	---	---	---						-	61607887	TCC	-	61607885	7	5	9	1	0	1	0	1	0	0	0	0	5397	1783	62	0	408	0	FADS2	11	61607885	In_Frame_Del	DEL	TCC	TCGA-FZ-5922-01A-11D-1609-08	715358	61607885	73398631	59	821											
CDC42BPG	55561	broad.mit.edu	37	chr11	64594614	64594614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgagatgagcttggagcGcacaaaagggtccttcagca	14	10	1	2			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr11:64594614G>A	ENST00000342711.5	-	34	4296	c.4297C>T	c.(4297-4299)Cgc>Tgc	p.R1433C		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1433					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						AGCTTGGAGCGCACAAAAGGG	0.652													7	805					0	0	1	0	0	A	64594614	G	A	64594614	3	1	9	1	0	0	0	0	1	0	0	0	3096	1087	38	1	374	1	CDC42BPG	11	64594614	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	2986729	64594614	70411902	60	822											
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-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	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													7	674					0	0	1	0	0	T	89405142	C	T	89405142	1	4	9	0	1	0	0	0	0	0	0	0	6013	565	20	2		2	FOLH1B	11	89405142	RNA	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	24810528	89405142	45601374	61	823											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	RNA	INS	-	-	C													acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs36063533		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													7	92	---	---	---	---						C	7080213	-	C	7080212	6	5	9	0	1	1	1	0	0	0	0	0	5118	1722	60	0		0	EMG1	12	7080212	RNA	INS	-	TCGA-FZ-5922-01A-11D-1609-08		7080212	126771683	62	824											
CLEC1B	51266	broad.mit.edu	37	chr12	10145836	10145836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagggtgcattttcccattaTgaaaataagcacaattcata	6	7	1	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:10145836T>C	ENST00000428126.2	-	7	766	c.497A>G	c.(496-498)cAt>cGt	p.H166R	CLEC1B_ENST00000298527.6_Missense_Mutation_p.H199R|CLEC1B_ENST00000348658.4_Missense_Mutation_p.H166R			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	199	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						TTTCCCATTATGAAAATAAGC	0.368													137	671					0	0	1	0	0	C	10145836	T	C	10145836	3	2	9	1	0	0	0	0	1	0	0	0	3529	1464	51	3	97	3	CLEC1B	12	10145836	Missense_Mutation	SNP	T	TCGA-FZ-5922-01A-11D-1609-08	3065624	10145836	123706059	63	825											
SOX5	6660	broad.mit.edu	37	chr12	23728637	23728637	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggactagctaacgctgctgGgacagaggctttgagggggc	17	8	0	2			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:23728637G>C	ENST00000546136.1	-	9	1263	c.1261C>G	c.(1261-1263)Cca>Gca	p.P421A	SOX5_ENST00000309359.1_Missense_Mutation_p.P421A|SOX5_ENST00000451604.2_Missense_Mutation_p.P434A|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000537393.1_Missense_Mutation_p.P399A|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000545921.1_Missense_Mutation_p.P424A|SOX5_ENST00000396007.2_Missense_Mutation_p.P48A			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	434					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						AACGCTGCTGGGACAGAGGCT	0.483													30	770					0	0	1	0	0	C	23728637	G	C	23728637	3	2	9	1	0	0	0	0	1	0	0	0	15008	1232	43	5	1015	5	SOX5	12	23728637	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	13582801	23728637	110123258	64	826											
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-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	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)			22	141					2.98393e-07	3.10572e-07	1	1	0	A	25398284	C	A	25398284	3	1	9	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	1669647	25398284	108453611	65	827											
OR10A7	121364	broad.mit.edu	37	chr12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-													ggctgtggtacccagatgtaCttcttcttcttctttggcag							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tac>ta	p.YF102del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414													8	1482	---	---	---	---						-	55615116	CTT	-	55615114	7	5	9	1	0	1	0	1	0	0	0	0	10943	576	20	0	308	0	OR10A7	12	55615114	In_Frame_Del	DEL	CTT	TCGA-FZ-5922-01A-11D-1609-08	30216830	55615114	78236781	66	828											
TXNRD1	7296	broad.mit.edu	37	chr12	104682725	104682725	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaggacggtcgggccctGgaaggaacgctctcggaatt	15	10	1	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:104682725G>A	ENST00000526691.1	+	2	483	c.27G>A	c.(25-27)ctG>ctA	p.L9L	TXNRD1_ENST00000524698.1_5'UTR|TXNRD1_ENST00000388854.3_Silent_p.L9L|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000503506.2_5'UTR|TXNRD1_ENST00000429002.2_Silent_p.L107L|TXNRD1_ENST00000378070.4_Silent_p.L56L|TXNRD1_ENST00000542918.1_Silent_p.L7L|TXNRD1_ENST00000540716.1_5'UTR|TXNRD1_ENST00000529546.1_5'UTR|TXNRD1_ENST00000526390.1_5'UTR|TXNRD1_ENST00000525566.1_Silent_p.L107L	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	107					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GTCGGGCCCTGGAAGGAACGC	0.612													121	633					0	0	1	0	0	A	104682725	G	A	104682725	2	1	9	1	0	0	0	0	0	0	0	1	16869	1335	47	2		2	TXNRD1	12	104682725	Silent	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	49067611	104682725	29169170	67	829											
ACACB	32	broad.mit.edu	37	chr12	109625910	109625910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggcctgcacgagtttgCggattcccaatttgggcact	13	10	0	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:109625910C>T	ENST00000338432.7	+	13	2206	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	ACACB_ENST00000377848.3_Missense_Mutation_p.A696V|ACACB_ENST00000377854.5_Missense_Mutation_p.A696V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	696	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)	CACGAGTTTGCGGATTCCCAA	0.562													6	696					0	0	1	0	0	T	109625910	C	T	109625910	3	4	9	1	0	0	0	0	1	0	0	0	107	768	27	1	2133	1	ACACB	12	109625910	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	4943185	109625910	24225985	68	830											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	11	14	0	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000332482.4_Silent_p.Q2706Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2742Q(2)		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)		agcagcaacagcagcagcagc	0.597													5	328					0	0	1	0	0	A	132547141	G	A	132547141	2	1	9	1	0	0	0	0	0	0	0	1	5177	962	34	2		2	EP400	12	132547141	Silent	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	22921231	132547141	1304754	69	831											
LNX2	0	broad.mit.edu	37	chr13	28127529	28127529	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cattgcaactgcctcactgtGacttaaattggtcaaatcaa	6	10	3	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr13:28127529G>A	ENST00000316334.3	-	8	1723	c.1594C>T	c.(1594-1596)Cac>Tac	p.H532Y		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	532	PDZ 3.						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)		GCCTCACTGTGACTTAAATTG	0.473													83	410					0	0	1	0	0	A	28127529	G	A	28127529	3	1	9	1	0	0	0	0	1	0	0	0	8907	1290	45	2	490	2	LNX2	13	28127529	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08		28127529	87042349	70	832											
ATG2B	55102	broad.mit.edu	37	chr14	96783571	96783572	+	Frame_Shift_Ins	INS	-	-	T													ttcttgttctgagagtctaaINStttttttttcctgcgagaac							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr14:96783571_96783572insT	ENST00000359933.4	-	20	4013_4014	c.3120_3121insA	c.(3118-3123)aatagafs	p.NR1040fs		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1040										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)		TGAGAGTCTAATTTTTTTTTCC	0.371													7	477	---	---	---	---						T	96783572	-	T	96783571	7	5	9	1	0	1	1	0	0	0	0	0	1093	98	4	0	3207	0	ATG2B	14	96783571	Frame_Shift_Ins	INS	-	TCGA-FZ-5922-01A-11D-1609-08		96783571	10565969	71	833											
FMN1	342184	broad.mit.edu	37	chr15	33261055	33261055	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgggggtgcaagtccTgggggtggtggagcaggagg	25	4	0	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr15:33261055T>G	ENST00000334528.9	-	4	2177	c.2178A>C	c.(2176-2178)ccA>ccC	p.P726P	FMN1_ENST00000561249.1_Silent_p.P851P|FMN1_ENST00000559047.1_Silent_p.P949P	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	949	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)		GTGCAAGTCCTGGGGGTGGTG	0.622													14	183					0	0	1	0	0	G	33261055	T	G	33261055	2	3	9	1	0	0	0	0	0	0	0	1	5982	1567	55	3		3	FMN1	15	33261055	Silent	SNP	T	TCGA-FZ-5922-01A-11D-1609-08		33261055	69270337	72	834											
DISP2	85455	broad.mit.edu	37	chr15	40662363	40662363	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgagggagacagtgtatgaCccatcattgcccgcttccca	10	13	1	3			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr15:40662363C>G	ENST00000267889.3	+	8	4137	c.4050C>G	c.(4048-4050)gaC>gaG	p.D1350E		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1350					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)		CAGTGTATGACCCATCATTGC	0.637													45	765					0	0	1	0	0	G	40662363	C	G	40662363	3	3	9	1	0	0	0	0	1	0	0	0	4568	506	18	5	4080	5	DISP2	15	40662363	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	7401308	40662363	61869029	73	835											
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-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	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													6	519					0	0	1	0	0	T	42520944	C	T	42520944	2	4	9	1	0	0	0	0	0	0	0	1	16270	726	26	2		2	TMEM87A	15	42520944	Silent	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	1858581	42520944	60010448	74	836											
ADAL	161823	broad.mit.edu	37	chr15	43641114	43641115	+	Frame_Shift_Ins	INS	-	-	A													ctttctttagattccaaaccINSaaaaaaaagaaacacaaata							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr15:43641114_43641115insA	ENST00000422466.2	+	11	1217_1218	c.643_644insA	c.(643-645)aaafs	p.K215fs	ADAL_ENST00000389651.4_Frame_Shift_Ins_p.K215fs|ADAL_ENST00000428046.3_Frame_Shift_Ins_p.K188fs|ADAL_ENST00000562188.1_Frame_Shift_Ins_p.K215fs			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	215					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GATTCCAAACCAAAAAAAAGAA	0.455													7	476	---	---	---	---						A	43641115	-	A	43641114	7	5	9	1	0	1	1	0	0	0	0	0	232	595	21	0	673	0	ADAL	15	43641114	Frame_Shift_Ins	INS	-	TCGA-FZ-5922-01A-11D-1609-08	1120170	43641114	58890278	75	837											
PKD1	5310	broad.mit.edu	37	chr16	2159313	2159313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagctcacgtggtttttgCcccgcacgctcaccacgtgg	10	17	2	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr16:2159313C>T	ENST00000262304.4	-	15	6063	c.5855G>A	c.(5854-5856)gGc>gAc	p.G1952D	PKD1_ENST00000423118.1_Missense_Mutation_p.G1952D	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1952	PKD 15.		G -> D.		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						GTGGTTTTTGCCCCGCACGCT	0.711													4	218					0	0	1	0	0	T	2159313	C	T	2159313	3	4	9	1	0	0	0	0	1	0	0	0	12011	739	26	2	7184	2	PKD1	16	2159313	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08		2159313	88195440	76	838											
DNAH3	55567	broad.mit.edu	37	chr16	21065824	21065824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccagctggacaatctgcGcaatctgatcattgctcttt	8	12	4	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr16:21065824G>A	ENST00000261383.3	-	28	3955	c.3956C>T	c.(3955-3957)gCg>gTg	p.A1319V	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1319V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1319	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)		GACAATCTGCGCAATCTGATC	0.542													73	259					0	0	1	0	0	A	21065824	G	A	21065824	3	1	9	1	0	0	0	0	1	0	0	0	4631	1087	38	1	8533	1	DNAH3	16	21065824	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	18906511	21065824	69288929	77	839											
ELMO3	79767	broad.mit.edu	37	chr16	67237464	67237484	+	In_Frame_Del	DEL	TCATTGCCCCCTCCAAGCGGG	TCATTGCCCCCTCCAAGCGGG	-													ggaggaagcgtacctcaactTcattgccccctccaagcggg					rs148378199	by1000genomes	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr16:67237464_67237484delTCATTGCCCCCTCCAAGCGGG	ENST00000393997.2	+	19	2144_2164	c.2087_2107delTCATTGCCCCCTCCAAGCGGG	c.(2086-2109)tag>t	p.FIAPSKRE696del	ELMO3_ENST00000360833.1_In_Frame_Del_p.FIAPSKRE679del|ELMO3_ENST00000477898.1_In_Frame_Del_p.FIAPSKRE530del	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	643					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)		TACCTCAACTTCATTGCCCCCTCCAAGCGGGAGGTGAGTGT	0.629													28	436	---	---	---	---						-	67237484	TCATTGCCCCCTCCAAGCGGG	-	67237464	7	5	9	1	0	1	0	1	0	0	0	0	5095	1783	62	0	2161	0	ELMO3	16	67237464	In_Frame_Del	DEL	TCATTGCCCCCTCCAAGCGGG	TCGA-FZ-5922-01A-11D-1609-08	46171640	67237464	23117289	78	840											
ZNF276	92822	broad.mit.edu	37	chr16	89789731	89789731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgggtgcatggacatgCggccagctgcggggccctgc	20	11	0	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr16:89789731C>T	ENST00000289816.5	+	4	707	c.395C>T	c.(394-396)gCg>gTg	p.A132V	ZNF276_ENST00000568064.1_Missense_Mutation_p.R126W|ZNF276_ENST00000443381.2_Missense_Mutation_p.A207V|ZNF276_ENST00000446326.2_Missense_Mutation_p.R4W	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	207	ZAD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CATGGACATGCGGCCAGCTGC	0.642													78	379					0	0	1	0	0	T	89789731	C	T	89789731	3	4	9	1	0	0	0	0	1	0	0	0	17869	768	27	1	634	1	ZNF276	16	89789731	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	22552267	89789731	565022	79	841											
NEURL4	84461	broad.mit.edu	37	chr17	7227181	7227181	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcgctgcgacagttgtggCggagggcggtgcggcccccg	18	13	0	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr17:7227181C>A	ENST00000399464.2	-	12	2228	c.2213G>T	c.(2212-2214)cGc>cTc	p.R738L	NEURL4_ENST00000315614.7_Missense_Mutation_p.R738L|NEURL4_ENST00000570460.1_Missense_Mutation_p.R716L	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						ACAGTTGTGGCGGAGGGCGGT	0.622											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	92	654					5.5301e-39	5.91682e-39	1	1	0	A	7227181	C	A	7227181	3	1	9	1	0	0	0	0	1	0	0	0	10394	768	27	4	2547	4	NEURL4	17	7227181	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08		7227181	73968029	80	842											
B4GALNT2	124872	broad.mit.edu	37	chr17	47246916	47246916	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gatgggctagggaccctactCgtggggtcatgcccagaagt	15	10	1	1	rs148956387	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr17:47246916C>A	ENST00000300404.2	+	11	1586	c.1527C>A	c.(1525-1527)ctC>ctA	p.L509L	B4GALNT2_ENST00000504681.1_Silent_p.L423L|B4GALNT2_ENST00000393354.2_Silent_p.L449L	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	509					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)			GGACCCTACTCGTGGGGTCAT	0.522													96	472					1.54295e-31	1.62808e-31	1	1	0	A	47246916	C	A	47246916	2	1	9	1	0	0	0	0	0	0	0	1	1265	871	31	4		4	B4GALNT2	17	47246916	Silent	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	40019735	47246916	33948294	81	843											
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-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr17:77705082G>A	ENST00000328313.5	+	1	402	c.181G>A	c.(181-183)Ggg>Agg	p.G61R		NM_178543.3	NP_848638.2	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													4	224					0	0	1	0	0	A	77705082	G	A	77705082	3	1	9	1	0	0	0	0	1	0	0	0	5163	1116	39	1	183	1	ENPP7	17	77705082	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	30458166	77705082	3490128	82	844											
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-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr17:79078379C>T	ENST00000321300.6	+	10	1225	c.1132C>T	c.(1132-1134)Cgg>Tgg	p.R378W	BAIAP2_ENST00000575712.1_Missense_Mutation_p.R378W|BAIAP2_ENST00000416299.2_Missense_Mutation_p.R241W|BAIAP2_ENST00000321280.7_Missense_Mutation_p.R378W|BAIAP2_ENST00000392411.3_Missense_Mutation_p.R300W|BAIAP2_ENST00000435091.3_Missense_Mutation_p.R378W|BAIAP2_ENST00000428708.2_Missense_Mutation_p.R378W|BAIAP2_ENST00000575245.1_Missense_Mutation_p.R411W	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													5	413					0	0	1	0	0	T	79078379	C	T	79078379	3	4	9	1	0	0	0	0	1	0	0	0	1299	759	27	1	1170	1	BAIAP2	17	79078379	Missense_Mutation	SNP	C	TCGA-FZ-5922-01A-11D-1609-08	1373297	79078379	2116831	83	845											
HMHA1	23526	broad.mit.edu	37	chr19	1073261	1073261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccgtggagacgctcaccGcagccggcaccctcattgcc	10	18	2	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr19:1073261G>A	ENST00000313093.2	+	3	766	c.535G>A	c.(535-537)Gca>Aca	p.A179T	HMHA1_ENST00000536472.1_Missense_Mutation_p.A19T|HMHA1_ENST00000539243.2_Missense_Mutation_p.A195T|HMHA1_ENST00000590214.1_Missense_Mutation_p.A206T|HMHA1_ENST00000592335.1_3'UTR|HMHA1_ENST00000543365.1_Missense_Mutation_p.A62T|HMHA1_ENST00000586866.1_Missense_Mutation_p.A183T	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	179					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)		GACGCTCACCGCAGCCGGCAC	0.637													6	579					0	0	1	0	0	A	1073261	G	A	1073261	3	1	9	1	0	0	0	0	1	0	0	0	7281	1087	38	1	545	1	HMHA1	19	1073261	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08		1073261	58055722	84	846											
NFIC	4782	broad.mit.edu	37	chr19	3449068	3449068	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcaccattcaacagcccgTccccccaggactctccccgc	6	21	3	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr19:3449068T>C	ENST00000589123.1	+	7	1108	c.988T>C	c.(988-990)Tcc>Ccc	p.S330P	NFIC_ENST00000346156.5_Missense_Mutation_p.S306P|NFIC_ENST00000341919.3_Missense_Mutation_p.S339P|NFIC_ENST00000590282.1_Missense_Mutation_p.S339P|NFIC_ENST00000395111.3_Missense_Mutation_p.S330P|NFIC_ENST00000586919.1_Missense_Mutation_p.S306P|NFIC_ENST00000443272.2_Missense_Mutation_p.S339P	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	339					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)		CAACAGCCCGTCCCCCCAGGA	0.667													11	252					0	0	1	0	0	C	3449068	T	C	3449068	3	2	9	1	0	0	0	0	1	0	0	0	10419	1667	58	3	1048	3	NFIC	19	3449068	Missense_Mutation	SNP	T	TCGA-FZ-5922-01A-11D-1609-08	2375807	3449068	55679915	85	847											
NAPSA	9476	broad.mit.edu	37	chr19	50868836	50868838	+	In_Frame_Del	DEL	GCA	GCA	-													aggctccacattcagcagagGcagcagcagcagcaggggtt							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr19:50868836_50868838delGCA	ENST00000253719.2	-	1	249_251	c.41_43delTGC	c.(40-45)cct>c	p.LP14del	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	14					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)		TTcagcagaggcagcagcagcag	0.596													7	203	---	---	---	---						-	50868838	GCA	-	50868836	7	5	9	1	0	1	0	1	0	0	0	0	10214	1203	42	0	1255	0	NAPSA	19	50868836	In_Frame_Del	DEL	GCA	TCGA-FZ-5922-01A-11D-1609-08	47419768	50868836	8260147	86	848											
ZHX3	23051	broad.mit.edu	37	chr20	39832962	39832962	+	Frame_Shift_Del	DEL	T	T	-													attctccttgagtgtatgaaTttttttggcttcagctttgc							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr20:39832962delT	ENST00000309060.3	-	4	1010	c.595delA	c.(595-597)ttfs	p.I199fs	ZHX3_ENST00000557816.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000432768.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000544979.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000540170.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000558993.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.I199fs			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	199					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)				AGTGTATGAATTTTTTTGGCT	0.488													8	847	---	---	---	---						-	39832962	T	-	39832962	7	5	9	1	0	1	0	1	0	0	0	0	17735	1493	52	0	2283	0	ZHX3	20	39832962	Frame_Shift_Del	DEL	T	TCGA-FZ-5922-01A-11D-1609-08		39832962	23192558	87	849											
APP	351	broad.mit.edu	37	chr21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-													ccacctcttccacagactctGtggtggtggtggtggtggtg							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr21:27394182_27394184delGTG	ENST00000358918.3	-	6	1036_1038	c.837_839delCAC	c.(835-840)aca>ac	p.TT279del	APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000474136.1_5'UTR|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				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)				CACAGACTCTgtggtggtggtgg	0.522													7	333	---	---	---	---						-	27394184	GTG	-	27394182	7	5	9	1	0	1	0	1	0	0	0	0	812	1377	48	0	1525	0	APP	21	27394182	In_Frame_Del	DEL	GTG	TCGA-FZ-5922-01A-11D-1609-08		27394182	20735713	88	850											
SLC5A3	6526	broad.mit.edu	37	chr21	35467569	35467569	+	Frame_Shift_Del	DEL	T	T	-													atcctggtcatgtgcattggTttttttgccatgtggaaatc							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr21:35467569delT	ENST00000381151.3	+	2	584	c.72delT	c.(70-72)ggfs	p.G24fs	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	24		Implicated in sodium coupling (By similarity).				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						TGTGCATTGGTTTTTTTGCCA	0.468													7	972	---	---	---	---						-	35467569	T	-	35467569	7	5	9	1	0	1	0	1	0	0	0	0	14721	1712	60	0	74	0	SLC5A3	21	35467569	Frame_Shift_Del	DEL	T	TCGA-FZ-5922-01A-11D-1609-08	8073387	35467569	12662326	89	851											
AGPAT3	56894	broad.mit.edu	37	chr21	45402220	45402220	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcagactgataggagtaactGagatagaaaaaggctccagc	12	7	0	4			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr21:45402220G>A	ENST00000398063.2	+	9	1570	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	AGPAT3_ENST00000398061.1_Missense_Mutation_p.E360K|AGPAT3_ENST00000327505.2_Missense_Mutation_p.E360K|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.E360K|AGPAT3_ENST00000291572.8_Missense_Mutation_p.E360K|AGPAT3_ENST00000546158.1_Missense_Mutation_p.E360K	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	360				VTEIEKGSSYGNQEFKKKE -> ESLEPGRWRLQ (in Ref. 3; AAQ89067).	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)		AGGAGTAACTGAGATAGAAAA	0.453													206	1003					0	0	1	0	0	A	45402220	G	A	45402220	3	1	9	1	0	0	0	0	1	0	0	0	385	1291	45	2	1108	2	AGPAT3	21	45402220	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	9934651	45402220	2727675	90	852											
PPIL2	23759	broad.mit.edu	37	chr22	22049265	22049265	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cacagctcaaggtagccccgGagaccaaagtgaagagcagc	12	12	1	3			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr22:22049265G>T	ENST00000406385.1	+	19	1432	c.1372G>T	c.(1372-1374)Gag>Tag	p.E458*	PPIL2_ENST00000492445.2_Nonsense_Mutation_p.E458*|PPIL2_ENST00000456792.2_Intron|PPIL2_ENST00000412327.1_Nonsense_Mutation_p.E458*|PPIL2_ENST00000335025.7_Nonsense_Mutation_p.E458*|PPIL2_ENST00000398831.3_Nonsense_Mutation_p.E458*			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	458					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GGTAGCCCCGGAGACCAAAGT	0.642													142	624					6.46734e-63	7.01776e-63	1	1	0	T	22049265	G	T	22049265	4	4	9	1	0	0	0	0	0	1	0	0	12376	1175	41	2	1446	2	PPIL2	22	22049265	Nonsense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08		22049265	29255301	91	853											
TFIP11	24144	broad.mit.edu	37	chr22	26906183	26906185	+	In_Frame_Del	DEL	TCA	TCA	-													tctcaaagttctcccgctcgTcatcatcatcatcaatgcgg					rs145794160	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr22:26906183_26906185delTCA	ENST00000407690.1	-	4	337_339	c.54_56delTGA	c.(52-57)gac>ga	p.DD18del	TFIP11_ENST00000407431.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000407148.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000405938.1_In_Frame_Del_p.DD18del	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	18	Poly-Asp.				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						CTCCCGCTCGTCATCATCATCAT	0.532													9	612	---	---	---	---						-	26906185	TCA	-	26906183	7	5	9	1	0	1	0	1	0	0	0	0	15867	1667	58	0	2505	0	TFIP11	22	26906183	In_Frame_Del	DEL	TCA	TCGA-FZ-5922-01A-11D-1609-08	4856918	26906183	24398383	92	854											
AP1B1	162	broad.mit.edu	37	chr22	29727462	29727462	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttcccgtcctccacaaagaGgatgtgcagtgggtacaagg	12	11	0	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr22:29727462G>C	ENST00000357586.2	-	19	2686	c.2500C>G	c.(2500-2502)Ctc>Gtc	p.L834V	AP1B1_ENST00000317368.7_Missense_Mutation_p.L807V|AP1B1_ENST00000405198.1_Missense_Mutation_p.L834V|AP1B1_ENST00000356015.2_Missense_Mutation_p.L827V|AP1B1_ENST00000415447.1_Missense_Mutation_p.L827V|AP1B1_ENST00000402502.1_Missense_Mutation_p.L827V|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000432560.2_Missense_Mutation_p.L827V	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	834					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						TCCACAAAGAGGATGTGCAGT	0.577													215	1127					0	0	1	0	0	C	29727462	G	C	29727462	3	2	9	1	0	0	0	0	1	0	0	0	727	1000	35	5	369	5	AP1B1	22	29727462	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	2821279	29727462	21577104	93	855											
BAIAP2L2	80115	broad.mit.edu	37	chr22	38484914	38484914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgcccccgccgccgcccGggcgctcgccaaaggagttg	15	18	0	0			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr22:38484914G>A	ENST00000381669.3	-	10	1103	c.959C>T	c.(958-960)cCg>cTg	p.P320L		NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	320					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)					gccgccgcccgggcgcTCGCC	0.726													3	63					0	0	1	0	0	A	38484914	G	A	38484914	3	1	9	1	0	0	0	0	1	0	0	0	1301	1116	39	1	650	1	BAIAP2L2	22	38484914	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	8757452	38484914	12819652	94	856											
BMP15	9210	broad.mit.edu	37	chrX	50659096	50659096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcttgagctctggcatgGcacttcatccttggacattg	11	10	3	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chrX:50659096G>A	ENST00000252677.3	+	2	668	c.668G>A	c.(667-669)gGc>gAc	p.G223D		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	223					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)					CTCTGGCATGGCACTTCATCC	0.448													5	468					0	0	1	0	0	A	50659096	G	A	50659096	3	1	9	1	0	0	0	0	1	0	0	0	1457	1203	42	2	674	2	BMP15	23	50659096	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08		50659096	104611464	95	857											
PHF8	23133	broad.mit.edu	37	chrX	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-													tgttcatccagactggcgttCtcctcctcctcctcgctctc							TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chrX:54011405_54011407delCTC	ENST00000338154.6	-	18	2887_2889	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831	Ser-rich.				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						GACTGGCGTTCTCCTCCTCCTCC	0.591													9	524	---	---	---	---						-	54011407	CTC	-	54011405	7	5	9	1	0	1	0	1	0	0	0	0	11888	912	32	0	835	0	PHF8	23	54011405	In_Frame_Del	DEL	CTC	TCGA-FZ-5922-01A-11D-1609-08	3352309	54011405	101259155	96	858											
LONRF3	79836	broad.mit.edu	37	chrX	118140187	118140187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtccattgtgcaaagacGgtctttcacaggtaaatcaa	9	8	3	1			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chrX:118140187G>A	ENST00000365713.2	+	5	1559	c.1396G>A	c.(1396-1398)Ggt>Agt	p.G466S	LONRF3_ENST00000371628.3_Missense_Mutation_p.G507S|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Missense_Mutation_p.G251S|LONRF3_ENST00000304778.7_Missense_Mutation_p.G466S			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	507					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						GTGCAAAGACGGTCTTTCACA	0.368													267	499					0	0	1	0	0	A	118140187	G	A	118140187	3	1	9	1	0	0	0	0	1	0	0	0	8941	1116	39	1	1541	1	LONRF3	23	118140187	Missense_Mutation	SNP	G	TCGA-FZ-5922-01A-11D-1609-08	64128782	118140187	37130373	97	859											
RNF220	55182	broad.mit.edu	37	chr1	45111155	45111155	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctgcaagaacagcgacatCgagaagtaagtgtttggcca	11	9	0	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:45111155C>T	ENST00000355387.2	+	12	1890	c.1440C>T	c.(1438-1440)atC>atT	p.I480I	TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000361799.2_Silent_p.I480I|RNF220_ENST00000480686.1_3'UTR|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000443020.2_Silent_p.I267I|RNF220_ENST00000372247.2_Silent_p.I480I			Q5VTB9	RN220_HUMAN	ring finger protein 220	480					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						ACAGCGACATCGAGAAGTAAG	0.592													6	225					0	0	1	0	0	T	45111155	C	T	45111155	2	4	10	1	0	0	0	0	0	0	0	1	13535	874	31	1		1	RNF220	1	45111155	Silent	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		45111155	204139466	1	860											
SPATA1	100505741	broad.mit.edu	37	chr1	84988201	84988201	+	RNA	DEL	T	T	-													tttagctgtggtaagttttcTttttttttctttctgattga							TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:84988201delT	ENST00000370638.2	+	0	526									spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		GTAAGTTTTCTTTTTTTTTCT	0.323													7	303	---	---	---	---						-	84988201	T	-	84988201	6	5	10	0	1	1	0	1	0	0	0	0	15054	1624	56	0		0	SPATA1	1	84988201	RNA	DEL	T	TCGA-FZ-5923-01A-12D-1609-08	39877046	84988201	164262420	2	861											
AMPD1	270	broad.mit.edu	37	chr1	115222920	115222920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcaagtaaaaaattcatatCgtctaagaaggtgtccagat	8	6	2	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:115222920C>T	ENST00000369538.3	-	5	861	c.814G>A	c.(814-816)Gat>Aat	p.D272N	AMPD1_ENST00000520113.2_Missense_Mutation_p.D276N|AMPD1_ENST00000353928.6_Missense_Mutation_p.D243N	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	243					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)	AAATTCATATCGTCTAAGAAG	0.393													14	535					0	0	1	0	0	T	115222920	C	T	115222920	3	4	10	1	0	0	0	0	1	0	0	0	581	884	31	1	1560	1	AMPD1	1	115222920	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	30234719	115222920	134027701	3	862											
SEMA6C	10500	broad.mit.edu	37	chr1	151112146	151112146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcccctccccttcttcttCggcttgaagatcgaaggaga	9	14	2	3	rs143410634		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:151112146C>T	ENST00000341697.3	-	5	1956	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	89	Sema.					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)			CCTTCTTCTTCGGCTTGAAGA	0.572													9	231					0	0	1	0	0	T	151112146	C	T	151112146	3	4	10	1	0	0	0	0	1	0	0	0	14095	893	31	1	2687	1	SEMA6C	1	151112146	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	35889226	151112146	98138475	4	863											
TCHH	7062	broad.mit.edu	37	chr1	152085461	152085462	+	Frame_Shift_Ins	INS	-	-	A													gcttgagccactttgaaaatINSaaataggaggaattcgttga							TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:152085461_152085462insA	ENST00000368804.1	-	2	230_231	c.231_232insT	c.(229-234)ttttttfs	p.FF77fs		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	77	EF-hand 2.|S-100-like.				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)			ACTTTGAAAATAAATAGGAGGA	0.485													11	400	---	---	---	---						A	152085462	-	A	152085461	7	5	10	1	0	1	1	0	0	0	0	0	15760	1406	49	0	5603	0	TCHH	1	152085461	Frame_Shift_Ins	INS	-	TCGA-FZ-5923-01A-12D-1609-08	973315	152085461	97165160	5	864											
FMO2	2327	broad.mit.edu	37	chr1	171174741	171174741	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cattttcccaactgctgaacTtcaagctcgttgggtgacaa	8	11	1	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:171174741T>A	ENST00000441535.1	+	7	1268	c.1151T>A	c.(1150-1152)cTt>cAt	p.L384H	RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.L384H|FMO2_ENST00000529935.1_3'UTR|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	384					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)					ACTGCTGAACTTCAAGCTCGT	0.453													12	218					0	0	1	0	0	A	171174741	T	A	171174741	3	1	10	1	0	0	0	0	1	0	0	0	5988	1609	56	5	1173	5	FMO2	1	171174741	Missense_Mutation	SNP	T	TCGA-FZ-5923-01A-12D-1609-08	19089280	171174741	78075880	6	865											
OBSCN	84033	broad.mit.edu	37	chr1	228467882	228467882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtgtgtctcttgcagcgCgggaggtgacagtgacaggg	18	9	1	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:228467882C>T	ENST00000570156.2	+	34	9027	c.8953C>T	c.(8953-8955)Cgg>Tgg	p.R2985W	OBSCN_ENST00000284548.11_Missense_Mutation_p.R2556W|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.R2556W|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1403W|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1986	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)				TCTTGCAGCGCGGGAGGTGAC	0.642													26	331					0	0	1	0	0	T	228467882	C	T	228467882	3	4	10	1	0	0	0	0	1	0	0	0	10860	759	27	1	7776	1	OBSCN	1	228467882	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	57293141	228467882	20782739	7	866											
FMN2	56776	broad.mit.edu	37	chr1	240374520	240374520	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atctctgatactatctcaaaGacgaaggctaaacaagtgag	8	8	2	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr1:240374520G>A	ENST00000319653.9	+	6	4280	c.4050G>A	c.(4048-4050)aaG>aaA	p.K1350K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1350	FH2.				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)			CTATCTCAAAGACGAAGGCTA	0.328													18	545					0	0	1	0	0	A	240374520	G	A	240374520	2	1	10	1	0	0	0	0	0	0	0	1	5983	933	33	2		2	FMN2	1	240374520	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	11906638	240374520	8876101	8	867											
TMEM214	54867	broad.mit.edu	37	chr2	27259447	27259447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggttttgccaacctcacCgagggactgaaaggtaacag	12	10	1	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:27259447C>T	ENST00000238788.9	+	6	875	c.813C>T	c.(811-813)acC>acT	p.T271T	TMEM214_ENST00000404032.3_Silent_p.T226T	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	271						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCAACCTCACCGAGGGACTGA	0.567													63	672					0	0	1	0	0	T	27259447	C	T	27259447	2	4	10	1	0	0	0	0	0	0	0	1	16197	639	23	1		1	TMEM214	2	27259447	Silent	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		27259447	215939926	9	868											
AGBL5	60509	broad.mit.edu	37	chr2	27276415	27276415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacccggccacgctgggaaCgcattcgagaccggcccacc	11	19	0	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:27276415C>T	ENST00000360131.4	+	3	520	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	AGBL5_ENST00000323064.8_Missense_Mutation_p.R121C	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	121					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)					ACGCTGGGAACGCATTCGAGA	0.502													39	374					0	0	1	0	0	T	27276415	C	T	27276415	3	4	10	1	0	0	0	0	1	0	0	0	375	536	19	1	367	1	AGBL5	2	27276415	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	16968	27276415	215922958	10	869											
NRBP1	29959	broad.mit.edu	37	chr2	27656328	27656328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagagtcgccctgtgggcGctggcagaagaggcgagaag	19	8	0	4			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:27656328G>A	ENST00000233557.3	+	3	1020	c.188G>A	c.(187-189)cGc>cAc	p.R63H	NRBP1_ENST00000379852.3_Missense_Mutation_p.R63H|NRBP1_ENST00000379863.3_Missense_Mutation_p.R63H			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	63				R -> G (in Ref. 4; BAD96856).	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)					CCCTGTGGGCGCTGGCAGAAG	0.493													28	163					0	0	1	0	0	A	27656328	G	A	27656328	3	1	10	1	0	0	0	0	1	0	0	0	10690	1087	38	1	190	1	NRBP1	2	27656328	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	379913	27656328	215543045	11	870											
ABCG5	64240	broad.mit.edu	37	chr2	44051560	44051560	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgctttgggtatccactgAcgtcaggtccactaaaagtt	9	10	1	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:44051560A>G	ENST00000405322.1	-	5	1299	c.403T>C	c.(403-405)Tca>Cca	p.S135P	ABCG5_ENST00000543989.1_Intron|ABCG5_ENST00000260645.1_Missense_Mutation_p.S306P			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	306	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)				GTATCCACTGACGTCAGGTCC	0.393													67	727					0	0	1	0	0	G	44051560	A	G	44051560	3	3	10	1	0	0	0	0	1	0	0	0	71	275	10	3	1063	3	ABCG5	2	44051560	Missense_Mutation	SNP	A	TCGA-FZ-5923-01A-12D-1609-08	16395232	44051560	199147813	12	871											
BIN1	274	broad.mit.edu	37	chr2	127808793	127808794	+	Frame_Shift_Ins	INS	-	-	CCCG													cagccgcaggttgggtcccaINScccgccacctccgaggcctc							TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:127808793_127808794insCCCG	ENST00000316724.5	-	16	1808_1809	c.1397_1398insCGGG	c.(1396-1398)gggfs	p.-465fs	BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000357970.3_Frame_Shift_Ins_p.-422fs|BIN1_ENST00000351659.3_Frame_Shift_Ins_p.-378fs|BIN1_ENST00000352848.3_Frame_Shift_Ins_p.-326fs|BIN1_ENST00000259238.4_Frame_Shift_Ins_p.-369fs|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000409400.1_Frame_Shift_Ins_p.-311fs|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000393040.3_Frame_Shift_Ins_p.-354fs|BIN1_ENST00000346226.3_Frame_Shift_Ins_p.-390fs|BIN1_ENST00000393041.3_Frame_Shift_Ins_p.-347fs	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1						cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				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)		GTTGGGTCCCACCCGCCACCTC	0.639													17	308	---	---	---	---						CCCG	127808794	-	CCCG	127808793	7	5	10	1	0	1	1	0	0	0	0	0	1431	146	6	0	399	0	BIN1	2	127808793	Frame_Shift_Ins	INS	-	TCGA-FZ-5923-01A-12D-1609-08	83757233	127808793	115390580	13	872											
CHRNA1	1134	broad.mit.edu	37	chr2	175619033	175619033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaaagggaaagtgggtgaCgatgatctcacagtagcttt	12	6	2	2	rs137852807		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:175619033C>T	ENST00000348749.5	-	5	531	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	CHRNA1_ENST00000261007.5_Missense_Mutation_p.V177I|CHRNA1_ENST00000409323.1_Missense_Mutation_p.V152I|CHRNA1_ENST00000409542.1_Intron|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V152I	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	177					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						AAGTGGGTGACGATGATCTCA	0.527													22	386					0	0	1	0	0	T	175619033	C	T	175619033	3	4	10	1	0	0	0	0	1	0	0	0	3403	536	19	1	939	1	CHRNA1	2	175619033	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	47810240	175619033	67580340	14	873											
TTN	7273	broad.mit.edu	37	chr2	179569435	179569435	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggataattaattttaatgtCaatttcaaagacagcatcat	5	5	3	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:179569435C>T	ENST00000589042.1	-	105	29988	c.29764G>A	c.(29764-29766)Gac>Aac	p.D9922N	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D9605N|TTN_ENST00000342992.6_Missense_Mutation_p.D8678N|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9605	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)			ATTTTAATGTCAATTTCAAAG	0.333													13	133					0	0	1	0	0	T	179569435	C	T	179569435	3	4	10	1	0	0	0	0	1	0	0	0	16797	826	29	2	74797	2	TTN	2	179569435	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	3950402	179569435	63629938	15	874											
TTN	7273	broad.mit.edu	37	chr2	179604915	179604915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtctgggggcatcaccaCgttgtcagaatgctcttctt	11	10	5	1	rs140847585	by1000genomes	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:179604915C>T	ENST00000589042.1	-	48	13269	c.13045G>A	c.(13045-13047)Gtg>Atg	p.V4349M	TTN_ENST00000359218.5_Missense_Mutation_p.V4111M|TTN_ENST00000591111.1_Missense_Mutation_p.V4032M|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.V4178M|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V3986M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4032	Ig-like 23.						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)			GGCATCACCACGTTGTCAGAA	0.463													74	440					0	0	1	0	0	T	179604915	C	T	179604915	3	4	10	1	0	0	0	0	1	0	0	0	16797	536	19	1	91744	1	TTN	2	179604915	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	35480	179604915	63594458	16	875											
SDPR	8436	broad.mit.edu	37	chr2	192701269	192701269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actttcttccaccttttcctCggcactgtcttccagggcct	6	16	2	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:192701269C>T	ENST00000304141.4	-	2	987	c.658G>A	c.(658-660)Gag>Aag	p.E220K		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	220						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)	ACCTTTTCCTCGGCACTGTCT	0.493													60	741					0	0	1	0	0	T	192701269	C	T	192701269	3	4	10	1	0	0	0	0	1	0	0	0	14024	893	31	1	623	1	SDPR	2	192701269	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	13096354	192701269	50498104	17	876											
ADAM23	8745	broad.mit.edu	37	chr2	207452819	207452819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcctgtccccagggccGctgctacaatggcgagtgca	13	14	0	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:207452819G>A	ENST00000264377.3	+	20	2121	c.1793G>A	c.(1792-1794)cGc>cAc	p.R598H	ADAM23_ENST00000374415.3_Missense_Mutation_p.R598H|ADAM23_ENST00000374416.1_Missense_Mutation_p.R598H	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	598	Cys-rich.				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)		CCCCAGGGCCGCTGCTACAAT	0.498													40	321					0	0	1	0	0	A	207452819	G	A	207452819	3	1	10	1	0	0	0	0	1	0	0	0	244	1087	38	1	1871	1	ADAM23	2	207452819	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	14751550	207452819	35746554	18	877											
ATG16L1	55054	broad.mit.edu	37	chr2	234182379	234182379	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttagtaagcgactctcGcagcctgctggaggccttct	10	13	3	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr2:234182379G>A	ENST00000392017.4	+	8	1064	c.807G>A	c.(805-807)tcG>tcA	p.S269S	ATG16L1_ENST00000373525.5_Silent_p.S125S|ATG16L1_ENST00000498620.1_Intron|ATG16L1_ENST00000347464.5_Intron|ATG16L1_ENST00000392018.1_Silent_p.S269S|ATG16L1_ENST00000392020.4_Intron	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	269					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		AGCGACTCTCGCAGCCTGCTG	0.383													10	415					0	0	1	0	0	A	234182379	G	A	234182379	2	1	10	1	0	0	0	0	0	0	0	1	1090	1074	38	1		1	ATG16L1	2	234182379	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	26729560	234182379	9016994	19	878											
OSBPL10	114884	broad.mit.edu	37	chr3	31725318	31725318	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcggccattgggtgttcgtGacagctggcaggagagcggg	18	8	0	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:31725318G>A	ENST00000396556.2	-	8	1656	c.1534C>T	c.(1534-1536)Cac>Tac	p.H512Y	OSBPL10_ENST00000438237.2_Missense_Mutation_p.H448Y	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	512					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)		GGGTGTTCGTGACAGCTGGCA	0.537													45	539					0	0	1	0	0	A	31725318	G	A	31725318	3	1	10	1	0	0	0	0	1	0	0	0	11322	1290	45	2	780	2	OSBPL10	3	31725318	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08		31725318	166297112	20	879											
SETD2	29072	broad.mit.edu	37	chr3	47125634	47125634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttataattttcagtctgCgaaacattagtttcttggga	7	7	3	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:47125634C>T	ENST00000409792.3	-	12	5678	c.5636G>A	c.(5635-5637)cGc>cAc	p.R1879H		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1879					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)		TTTCAGTCTGCGAAACATTAG	0.443			"N, F, S, Mis"		clear cell renal carcinoma								35	895					0	0	1	0	0	T	47125634	C	T	47125634	3	4	10	1	0	0	0	0	1	0	0	0	14185	768	27	1	2098	1	SETD2	3	47125634	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	15400316	47125634	150896796	21	880											
PRICKLE2	166336	broad.mit.edu	37	chr3	64085557	64085557	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcaggcatggaaaatcGggataggtgctcctggcgct	16	8	1	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:64085557G>A	ENST00000295902.6	-	8	2290	c.1705C>T	c.(1705-1707)Cga>Tga	p.R569*	PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R625*	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	569						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)		ATGGAAAATCGGGATAGGTGC	0.537													68	718					0	0	1	0	0	A	64085557	G	A	64085557	4	1	10	1	0	0	0	0	0	1	0	0	12539	1124	39	1	833	1	PRICKLE2	3	64085557	Nonsense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	16959923	64085557	133936873	22	881											
SENP7	57337	broad.mit.edu	37	chr3	101177867	101177867	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttatttttatggtctagagaGatgactttattccttaggct	8	5	1	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:101177867G>A	ENST00000394095.2	-	4	269	c.216C>T	c.(214-216)atC>atT	p.I72I	SENP7_ENST00000358203.3_Silent_p.I39I|SENP7_ENST00000394091.1_Silent_p.I39I|SENP7_ENST00000348610.3_Silent_p.I39I|SENP7_ENST00000314261.7_Silent_p.I72I|SENP7_ENST00000394094.2_Silent_p.I72I	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	72					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						GGTCTAGAGAGATGACTTTAT	0.333													26	791					0	0	1	0	0	A	101177867	G	A	101177867	2	1	10	1	0	0	0	0	0	0	0	1	14105	932	33	2		2	SENP7	3	101177867	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	37092310	101177867	96844563	23	882											
PEX5L	51555	broad.mit.edu	37	chr3	179519804	179519804	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaactgagggcagtgagaaAattgctgaccgcttctctaa	10	9	1	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:179519804A>C	ENST00000467460.1	-	15	2023	c.1693T>G	c.(1693-1695)Ttt>Gtt	p.F565V	PEX5L_ENST00000464614.1_Missense_Mutation_p.F457V|PEX5L_ENST00000465751.1_Missense_Mutation_p.F541V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000485199.1_Missense_Mutation_p.F530V|PEX5L_ENST00000476138.1_Missense_Mutation_p.F522V|PEX5L_ENST00000472994.1_Missense_Mutation_p.F506V|PEX5L_ENST00000263962.8_Missense_Mutation_p.F563V|PEX5L_ENST00000392649.3_Missense_Mutation_p.F457V|PEX5L_ENST00000468741.1_Missense_Mutation_p.F373V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	565					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)			GCAGTGAGAAAATTGCTGACC	0.393													92	542					0	0	1	0	0	C	179519804	A	C	179519804	3	2	10	1	0	0	0	0	1	0	0	0	11797	14	1	3	191	3	PEX5L	3	179519804	Missense_Mutation	SNP	A	TCGA-FZ-5923-01A-12D-1609-08	78341937	179519804	18502626	24	883											
LRCH3	84859	broad.mit.edu	37	chr3	197562601	197562601	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gctgcaccgcagaggaagagGaggccgaggtgagacagccc	17	11	0	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr3:197562601G>T	ENST00000438796.2	+	9	1203	c.1159G>T	c.(1159-1161)Gag>Tag	p.E387*	LRCH3_ENST00000441090.2_Nonsense_Mutation_p.E261*|LRCH3_ENST00000425562.2_Nonsense_Mutation_p.E387*|LRCH3_ENST00000414675.2_Nonsense_Mutation_p.E387*|LRCH3_ENST00000334859.4_Nonsense_Mutation_p.E387*|LRCH3_ENST00000536618.1_5'UTR			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	387	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)		AGAGGAAGAGGAGGCCGAGGT	0.507													37	296					9.80977e-26	1.07016e-25	1	1	0	T	197562601	G	T	197562601	4	4	10	1	0	0	0	0	0	1	0	0	8979	1175	41	2	1193	2	LRCH3	3	197562601	Nonsense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	18042797	197562601	459829	25	884											
ABLIM2	84448	broad.mit.edu	37	chr4	8021973	8021973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctggtaggtggaggggGgcggcttgctgtcagagagc	20	8	1	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:8021973G>A	ENST00000296372.8	-	12	1368	c.1226C>T	c.(1225-1227)cCc>cTc	p.P409L	ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000341937.5_Missense_Mutation_p.P409L|ABLIM2_ENST00000447017.2_Missense_Mutation_p.P442L|ABLIM2_ENST00000514025.1_Intron|ABLIM2_ENST00000318888.4_Intron|ABLIM2_ENST00000545242.1_Missense_Mutation_p.P409L|ABLIM2_ENST00000361581.5_Missense_Mutation_p.P409L|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000407564.3_Intron			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	409					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						GGTGGAGGGGGGCGGCTTGCT	0.632													6	207					0	0	1	0	0	A	8021973	G	A	8021973	3	1	10	1	0	0	0	0	1	0	0	0	95	1232	43	2	665	2	ABLIM2	4	8021973	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08		8021973	183132303	26	885											
CCKAR	886	broad.mit.edu	37	chr4	26483672	26483674	+	In_Frame_Del	DEL	CTG	CTG	-													tactccggatgcggttggccCtgctgctgctgccggtggac							TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:26483672_26483674delCTG	ENST00000295589.3	-	5	1067_1069	c.873_875delCAG	c.(871-876)agg>ag	p.SR291del		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	291					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)	GCGGTTGGCCCTGCTGCTGCTGC	0.606													9	737	---	---	---	---						-	26483674	CTG	-	26483672	7	5	10	1	0	1	0	1	0	0	0	0	2900	681	24	0	415	0	CCKAR	4	26483672	In_Frame_Del	DEL	CTG	TCGA-FZ-5923-01A-12D-1609-08	18461699	26483672	164670604	27	886											
SRP72	6731	broad.mit.edu	37	chr4	57333839	57333839	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgggggggtgtcagtacctgCgctgtggagtgaagtgaacc	18	8	1	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:57333839C>G	ENST00000342756.5	+	1	759	c.38C>G	c.(37-39)gCg>gGg	p.A13G	SRP72_ENST00000510663.1_Missense_Mutation_p.A13G|SRP72_ENST00000504757.1_Missense_Mutation_p.A13G	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	13					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)					TCAGTACCTGCGCTGTGGAGT	0.667													16	122					0	0	1	0	0	G	57333839	C	G	57333839	3	3	10	1	0	0	0	0	1	0	0	0	15213	768	27	5	40	5	SRP72	4	57333839	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	30850167	57333839	133820437	28	887											
NUP54	53371	broad.mit.edu	37	chr4	77065403	77065403	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgttgttgtgccaaaaccaGtaccaaatccaaaacctttg	6	12	0	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:77065403G>C	ENST00000264883.3	-	3	334	c.194C>G	c.(193-195)aCt>aGt	p.T65S	NUP54_ENST00000458189.2_5'UTR|NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000514987.1_Intron	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	65	9 X 2 AA repeats of F-G.|Gly-rich.|Thr-rich.				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						GCCAAAACCAGTACCAAATCC	0.393													202	1444					0	0	1	0	0	C	77065403	G	C	77065403	3	2	10	1	0	0	0	0	1	0	0	0	10815	1029	36	5	1369	5	NUP54	4	77065403	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	19731564	77065403	114088873	29	888											
RAP1GDS1	5910	broad.mit.edu	37	chr4	99325653	99325653	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaaagaacagtttgccagTacaaacattgctgaagagct	9	7	0	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:99325653T>C	ENST00000408927.3	+	7	776	c.663T>C	c.(661-663)agT>agC	p.S221S	RAP1GDS1_ENST00000408900.3_Silent_p.S172S|RAP1GDS1_ENST00000339360.5_Silent_p.S222S|RAP1GDS1_ENST00000264572.7_Silent_p.S130S|RAP1GDS1_ENST00000380158.4_Silent_p.S173S|RAP1GDS1_ENST00000453712.2_Silent_p.S222S	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	221							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)		AGTTTGCCAGTACAAACATTG	0.299			T	NUP98	T-ALL								30	263					0	0	1	0	0	C	99325653	T	C	99325653	2	2	10	1	0	0	0	0	0	0	0	1	13091	1635	57	3		3	RAP1GDS1	4	99325653	Silent	SNP	T	TCGA-FZ-5923-01A-12D-1609-08	22260250	99325653	91828623	30	889											
PCDH18	54510	broad.mit.edu	37	chr4	138442421	138442421	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgaaaatgcgtactggctGcccatgccgctaccccctgt	9	14	0	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:138442421G>T	ENST00000344876.4	-	4	3556	c.3170C>A	c.(3169-3171)gCa>gAa	p.A1057E	PCDH18_ENST00000507846.1_Missense_Mutation_p.A836E|PCDH18_ENST00000412923.2_Missense_Mutation_p.A1056E|PCDH18_ENST00000511115.1_Missense_Mutation_p.A237E|PCDH18_ENST00000510305.1_Missense_Mutation_p.A268E	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1057	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)					CGTACTGGCTGCCCATGCCGC	0.577													6	299					0.0215528	0.0216918	1	1	0	T	138442421	G	T	138442421	3	4	10	1	0	0	0	0	1	0	0	0	11560	1319	46	2	241	2	PCDH18	4	138442421	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	39116768	138442421	52711855	31	890											
WDR17	116966	broad.mit.edu	37	chr4	177100634	177100634	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgtttttccttgaagaCgggaaatctgctatctcctt	8	10	2	2	rs142280699	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr4:177100634C>T	ENST00000393643.2	+	30	4053	c.3801C>T	c.(3799-3801)gaC>gaT	p.D1267D	WDR17_ENST00000280190.4_Silent_p.D1291D|WDR17_ENST00000508596.1_Silent_p.D1252D|WDR17_ENST00000507824.2_Silent_p.D1266D	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1291										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)		TCCTTGAAGACGGGAAATCTG	0.393													16	506					0	0	1	0	0	T	177100634	C	T	177100634	2	4	10	1	0	0	0	0	0	0	0	1	17337	535	19	1		1	WDR17	4	177100634	Silent	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	38658213	177100634	14053642	32	891											
C5orf49	134121	broad.mit.edu	37	chr5	7835544	7835544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcatgttctctgtcatctCggtgcaacttctgatcataa	7	10	5	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:7835544C>T	ENST00000399810.2	-	2	683	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	C5orf49_ENST00000509627.1_Missense_Mutation_p.R72Q	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	72										large_intestine(3)|lung(5)|skin(1)	9						TCTGTCATCTCGGTGCAACTT	0.353													89	604					0	0	1	0	0	T	7835544	C	T	7835544	3	4	10	1	0	0	0	0	1	0	0	0	2322	884	31	1	236	1	C5orf49	5	7835544	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		7835544	173079716	33	892											
HCN1	348980	broad.mit.edu	37	chr5	45267329	45267329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctcgaacactggcagtacGacgtcctttggtcagcaggc	12	12	1	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:45267329G>A	ENST00000303230.4	-	7	1702	c.1645C>T	c.(1645-1647)Cgt>Tgt	p.R549C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	549						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						CTGGCAGTACGACGTCCTTTG	0.408													10	376					0	0	1	0	0	A	45267329	G	A	45267329	3	1	10	1	0	0	0	0	1	0	0	0	7037	1058	37	1	1035	1	HCN1	5	45267329	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	37431785	45267329	135647931	34	893											
SPZ1	84654	broad.mit.edu	37	chr5	79617205	79617205	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agggtacattttggaaaaaaGacagatcctgtagaagcctg	11	6	0	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:79617205G>T	ENST00000296739.4	+	1	1416	c.1171G>T	c.(1171-1173)Gac>Tac	p.D391Y		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	391					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)		TTGGAAAAAAGACAGATCCTG	0.363													30	333					4.74835e-14	5.10857e-14	1	1	0	T	79617205	G	T	79617205	3	4	10	1	0	0	0	0	1	0	0	0	15183	942	33	2	1173	2	SPZ1	5	79617205	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	34349876	79617205	101298055	35	894											
FSTL4	23105	broad.mit.edu	37	chr5	132534846	132534846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatacctgacacctcacaccGcagcgtgttttgtctcccat	6	15	2	1	rs150466282	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:132534846G>A	ENST00000265342.7	-	16	2719	c.2470C>T	c.(2470-2472)Cgg>Tgg	p.R824W	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	824						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)			ACCTCACACCGCAGCGTGTTT	0.577													10	256					0	0	1	0	0	A	132534846	G	A	132534846	3	1	10	1	0	0	0	0	1	0	0	0	6114	1086	38	1	62	1	FSTL4	5	132534846	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	52917641	132534846	48380414	36	895											
CD14	929	broad.mit.edu	37	chr5	140012532	140012534	+	In_Frame_Del	DEL	GCA	GCA	-													cgcagagacgtgcaccagcgGcagcagcagcagcaacaagc							TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:140012532_140012534delGCA	ENST00000302014.6	-	2	664_666	c.35_37delTGC	c.(34-39)ccg>c	p.LP12del	CD14_ENST00000401743.2_In_Frame_Del_p.LP12del	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	12					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	p.P13S(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACCAGCGGCAGCAGCAGCAG	0.635													7	222	---	---	---	---						-	140012534	GCA	-	140012532	7	5	10	1	0	1	0	1	0	0	0	0	2986	1203	42	0	1094	0	CD14	5	140012532	In_Frame_Del	DEL	GCA	TCGA-FZ-5923-01A-12D-1609-08	7477686	140012532	40902728	37	896											
PCDHB8	0	broad.mit.edu	37	chr5	140559035	140559035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccctgcacatcggcagcGtcagcgccacagacagagac	11	17	1	2	rs149925643		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:140559035G>A	ENST00000239444.2	+	1	1665	c.1420G>A	c.(1420-1422)Gtc>Atc	p.V474I		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		474	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V474I(2)		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)			CATCGGCAGCGTCAGCGCCAC	0.662													30	2000					0	0	1	0	0	A	140559035	G	A	140559035	3	1	10	1	0	0	0	0	1	0	0	0	11595	1145	40	1	1422	1	PCDHB8	5	140559035	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	546503	140559035	40356225	38	897											
SLIT3	6586	broad.mit.edu	37	chr5	168244314	168244314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatcctcacctgggcacaCgtactccttcttctgcacat	6	16	3	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr5:168244314C>T	ENST00000519560.1	-	8	1203	c.784G>A	c.(784-786)Gtg>Atg	p.V262M	SLIT3_ENST00000404867.3_Missense_Mutation_p.V262M|SLIT3_ENST00000332966.8_Missense_Mutation_p.V262M	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	262	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)			CCTGGGCACACGTACTCCTTC	0.572													18	235					0	0	1	0	0	T	168244314	C	T	168244314	3	4	10	1	0	0	0	0	1	0	0	0	14795	536	19	1	3903	1	SLIT3	5	168244314	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	27685279	168244314	12670946	39	898											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28213219	28213219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattccgcctaaaggctttgCcacacatattgcactggtat	7	11	0	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr6:28213219C>T	ENST00000377294.2	-	5	1556	c.1313G>A	c.(1312-1314)gGc>gAc	p.G438D	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.G283D	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	438					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						AAAGGCTTTGCCACACATATT	0.483													7	606					0	0	1	0	0	T	28213219	C	T	28213219	3	4	10	1	0	0	0	0	1	0	0	0	17747	739	26	2	328	2	ZKSCAN4	6	28213219	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		28213219	142901848	40	899											
OR2J3	442186	broad.mit.edu	37	chr6	29080438	29080438	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatctctctttttcattccGgccatgtgcatgtatctcca	6	12	4	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr6:29080438G>A	ENST00000377169.1	+	1	771	c.771G>A	c.(769-771)ccG>ccA	p.P257P		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	257					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						TTTTCATTCCGGCCATGTGCA	0.458													52	397					0	0	1	0	0	A	29080438	G	A	29080438	2	1	10	1	0	0	0	0	0	0	0	1	11052	1103	39	1		1	OR2J3	6	29080438	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	867219	29080438	142034629	41	900											
PDE1C	5137	broad.mit.edu	37	chr7	31890287	31890287	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaattgttggtggttccGgtatgctcgtagtcatggat	14	5	1	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:31890287G>A	ENST00000396184.3	-	9	1023	c.819C>T	c.(817-819)acC>acT	p.T273T	PDE1C_ENST00000321453.7_Silent_p.T273T|PDE1C_ENST00000396191.1_Silent_p.T273T|PDE1C_ENST00000396193.1_Silent_p.T333T|PDE1C_ENST00000396182.2_Silent_p.T273T	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	273	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	p.T273T(2)|p.T333T(1)		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)			TGGTGGTTCCGGTATGCTCGT	0.448													58	519					0	0	1	0	0	A	31890287	G	A	31890287	2	1	10	1	0	0	0	0	0	0	0	1	11682	1103	39	1		1	PDE1C	7	31890287	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08		31890287	127248376	42	901											
RSBN1L	222194	broad.mit.edu	37	chr7	77379157	77379157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgaactctcccacctgtctCctatggagatggagaggttt	10	11	2	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:77379157C>T	ENST00000334955.7	+	3	1147	c.1120C>T	c.(1120-1122)Cct>Tct	p.P374S	RSBN1L_ENST00000445288.1_Missense_Mutation_p.P104S	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	374						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCACCTGTCTCCTATGGAGAT	0.453													74	623					0	0	1	0	0	T	77379157	C	T	77379157	3	4	10	1	0	0	0	0	1	0	0	0	13749	855	30	2	1130	2	RSBN1L	7	77379157	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	45488870	77379157	81759506	43	902											
NPTX2	4885	broad.mit.edu	37	chr7	98254349	98254349	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtacgccttcaccatctgCctgtggctgcggtccagcgc	11	16	2	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:98254349C>A	ENST00000265634.3	+	3	924	c.759C>A	c.(757-759)tgC>tgA	p.C253*		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	253	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TCACCATCTGCCTGTGGCTGC	0.597													32	955					9.04072e-19	9.79411e-19	1	1	0	A	98254349	C	A	98254349	4	1	10	1	0	0	0	0	0	1	0	0	10651	747	26	2	769	2	NPTX2	7	98254349	Nonsense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	20875192	98254349	60884314	44	903											
ZAN	7455	broad.mit.edu	37	chr7	100384030	100384033	+	RNA	DEL	TTGT	TTGT	-													cctccaaagtttttcttttcTtgtttgtttgttttttgaga					rs71973809		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:100384030_100384033delTTGT	ENST00000542585.1	+	0	7124				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_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)			ttttcttttcttgtttgtttgttt	0.505													5	6	---	---	---	---						-	100384033	TTGT	-	100384030	6	5	10	0	1	1	0	1	0	0	0	0	17573	1624	56	0		0	ZAN	7	100384030	RNA	DEL	TTGT	TCGA-FZ-5923-01A-12D-1609-08	2129681	100384030	58754633	45	904											
CNTNAP2	26047	broad.mit.edu	37	chr7	147914427	147914427	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtggctacgatataactttCaggcaccagcaacaaatgcc	8	11	1	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr7:147914427C>T	ENST00000361727.3	+	19	3574	c.3058C>T	c.(3058-3060)Cag>Tag	p.Q1020*	CNTNAP2_ENST00000538075.1_Nonsense_Mutation_p.Q79*	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1020					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)			ATATAACTTTCAGGCACCAGC	0.493										HNSCC(39;0.1)			15	606					0	0	1	0	0	T	147914427	C	T	147914427	4	4	10	1	0	0	0	0	0	1	0	0	3670	827	29	2	3132	2	CNTNAP2	7	147914427	Nonsense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	47530397	147914427	11224236	46	905											
FGF17	8822	broad.mit.edu	37	chr8	21900685	21900685	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgattctctgctgtcAaactcaggtaggcgggcatt	12	10	3	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:21900685A>G	ENST00000359441.3	+	2	568	c.65A>G	c.(64-66)cAa>cGa	p.Q22R	FGF17_ENST00000518533.1_Missense_Mutation_p.Q22R	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17	22					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CTCTGCTGTCAAACTCAGGTA	0.622													6	145					0	0	1	0	0	G	21900685	A	G	21900685	3	3	10	1	0	0	0	0	1	0	0	0	5878	130	5	3	71	3	FGF17	8	21900685	Missense_Mutation	SNP	A	TCGA-FZ-5923-01A-12D-1609-08		21900685	124463337	47	906											
NEFL	4747	broad.mit.edu	37	chr8	24813396	24813396	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccatcaagctgtcgatgcGcttctcgagctcggcgcgag	13	13	2	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:24813396G>A	ENST00000221169.5	-	0	1228							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)		CTGTCGATGCGCTTCTCGAGC	0.627													13	195					0	0	1	0	0	A	24813396	G	A	24813396	1	1	10	0	1	0	0	0	0	0	0	0	10362	1087	38	1		1	NEFL	8	24813396	RNA	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	2912711	24813396	121550626	48	907											
ADRA1A	148	broad.mit.edu	37	chr8	26627800	26627800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcttttacttctcacccGggctgtggtacaggaggatt	11	9	1	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:26627800G>A	ENST00000380573.3	-	3	2290	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	ADRA1A_ENST00000276393.4_Missense_Mutation_p.R423W|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R423W|ADRA1A_ENST00000519229.1_Missense_Mutation_p.R423W|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380586.1_Missense_Mutation_p.R423W|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380582.3_Missense_Mutation_p.R423W			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	423					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)	CTTCTCACCCGGGCTGTGGTA	0.507													42	626					0	0	1	0	0	A	26627800	G	A	26627800	3	1	10	1	0	0	0	0	1	0	0	0	333	1115	39	1	428	1	ADRA1A	8	26627800	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	1814404	26627800	119736222	49	908											
WHSC1L1	54904	broad.mit.edu	37	chr8	38133932	38133932	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaacagtaatcttcatgcatCtgctttggttctgttttgat	7	7	4	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:38133932C>T	ENST00000317025.8	-	23	4471	c.3954G>A	c.(3952-3954)caG>caA	p.Q1318Q	WHSC1L1_ENST00000527502.1_Silent_p.Q1307Q|WHSC1L1_ENST00000433384.2_Silent_p.Q1269Q|RP11-513D5.5_ENST00000529325.1_RNA	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1318					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)			CTTCATGCATCTGCTTTGGTT	0.423			T	NUP98	AML								22	226					0	0	1	0	0	T	38133932	C	T	38133932	2	4	10	1	0	0	0	0	0	0	0	1	17423	912	32	2		2	WHSC1L1	8	38133932	Silent	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	11506132	38133932	108230090	50	909											
SLC45A4	57210	broad.mit.edu	37	chr8	142229763	142229763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttaccggcagagaaggcgTggatgttgagggccatgtcc	16	9	0	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr8:142229763T>C	ENST00000519067.1	-	3	746	c.443A>G	c.(442-444)cAc>cGc	p.H148R	SLC45A4_ENST00000517878.1_Missense_Mutation_p.H199R|SLC45A4_ENST00000433583.2_Missense_Mutation_p.H141R|SLC45A4_ENST00000024061.3_Missense_Mutation_p.H148R			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	199					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)			AGAGAAGGCGTGGATGTTGAG	0.667													28	94					0	0	1	0	0	C	142229763	T	C	142229763	3	2	10	1	0	0	0	0	1	0	0	0	14698	1696	59	3	1977	3	SLC45A4	8	142229763	Missense_Mutation	SNP	T	TCGA-FZ-5923-01A-12D-1609-08	104095831	142229763	4134259	51	910											
LINGO2	158038	broad.mit.edu	37	chr9	27950456	27950456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgaattcttcagggttgaCgctttttagcctgtttttac	8	7	2	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:27950456C>T	ENST00000379992.2	-	6	663	c.214G>A	c.(214-216)Gtc>Atc	p.V72I	LINGO2_ENST00000308675.3_Missense_Mutation_p.V72I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	72						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)		TCAGGGTTGACGCTTTTTAGC	0.438													138	782					0	0	1	0	0	T	27950456	C	T	27950456	3	4	10	1	0	0	0	0	1	0	0	0	8856	536	19	1	1610	1	LINGO2	9	27950456	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		27950456	113262975	52	911											
ZFP37	7539	broad.mit.edu	37	chr9	115818910	115818912	+	In_Frame_Del	DEL	CTC	CTC	-													ctttggtcgtttccgcacttCtcctccggtccacggtctct							TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:115818910_115818912delCTC	ENST00000374227.3	-	1	84_86	c.57_59delGAG	c.(55-60)aga>ag	p.RR19del	ZFP37_ENST00000555206.1_In_Frame_Del_p.RR19del|ZFP37_ENST00000553380.1_In_Frame_Del_p.RR19del			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	19						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R20K(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TTCCGCACTTCTCCTCCGGTCCA	0.665													82	831	---	---	---	---						-	115818912	CTC	-	115818910	7	5	10	1	0	1	0	1	0	0	0	0	17706	913	32	0	1849	0	ZFP37	9	115818910	In_Frame_Del	DEL	CTC	TCGA-FZ-5923-01A-12D-1609-08	87868454	115818910	25394521	53	912											
DOLPP1	57171	broad.mit.edu	37	chr9	131849065	131849065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgagtacacggtaacccGggcagaagccaggtgagttc	14	9	0	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:131849065G>A	ENST00000372546.4	+	7	700	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	DOLPP1_ENST00000406974.3_Missense_Mutation_p.R180Q|DOLPP1_ENST00000540102.1_Missense_Mutation_p.R82Q	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	223					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						ACGGTAACCCGGGCAGAAGCC	0.597													11	414					0	0	1	0	0	A	131849065	G	A	131849065	3	1	10	1	0	0	0	0	1	0	0	0	4731	1116	39	1	694	1	DOLPP1	9	131849065	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	16030155	131849065	9364366	54	913											
SARDH	1757	broad.mit.edu	37	chr9	136529088	136529088	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcaccataggtcacccCcattctctccagggcatagt	9	15	2	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:136529088C>G	ENST00000371872.4	-	21	2937	c.2680G>C	c.(2680-2682)Ggg>Cgg	p.G894R	SARDH_ENST00000371868.1_Missense_Mutation_p.G344R|SARDH_ENST00000422262.2_Missense_Mutation_p.G726R|SARDH_ENST00000439388.1_Missense_Mutation_p.G894R	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	894					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)		TAGGTCACCCCCATTCTCTCC	0.577													19	411					0	0	1	0	0	G	136529088	C	G	136529088	3	3	10	1	0	0	0	0	1	0	0	0	13894	623	22	5	80	5	SARDH	9	136529088	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	4680023	136529088	4684343	55	914											
GLT6D1	360203	broad.mit.edu	37	chr9	138516228	138516228	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcccagggtctccaccccGaactcattctggaagacctg	11	15	3	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:138516228G>A	ENST00000371763.1	-	5	799	c.546C>T	c.(544-546)ttC>ttT	p.F182F		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	182					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)		TCTCCACCCCGAACTCATTCT	0.577													31	366					0	0	1	0	0	A	138516228	G	A	138516228	2	1	10	1	0	0	0	0	0	0	0	1	6510	1049	37	1		1	GLT6D1	9	138516228	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	1987140	138516228	2697203	56	915											
KCNT1	57582	broad.mit.edu	37	chr9	138683989	138683989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcaaccccgagactcgCgacgagacacagctctgagc	10	16	1	3	rs141521745	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr9:138683989C>T	ENST00000298480.5	+	32	3827	c.3753C>T	c.(3751-3753)cgC>cgT	p.R1251R	KCNT1_ENST00000371757.2_Silent_p.R1230R|KCNT1_ENST00000491806.2_Silent_p.R1216R|KCNT1_ENST00000263604.3_Silent_p.R1225R|KCNT1_ENST00000490355.2_Silent_p.R1229R|KCNT1_ENST00000488444.2_Silent_p.R1230R|KCNT1_ENST00000486577.2_Silent_p.R1208R|KCNT1_ENST00000487664.1_Silent_p.R1206R			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	1230						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)		CCGAGACTCGCGACGAGACAC	0.667													12	112					0	0	1	0	0	T	138683989	C	T	138683989	2	4	10	1	0	0	0	0	0	0	0	1	8135	755	27	1		1	KCNT1	9	138683989	Silent	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	167761	138683989	2529442	57	916											
ANK3	288	broad.mit.edu	37	chr10	61946485	61946485	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgggttaccttattgctcagGttcacattcgcatttctacc	7	11	3	0	rs139111941		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:61946485G>C	ENST00000280772.1	-	17	2264	c.2073C>G	c.(2071-2073)aaC>aaG	p.N691K	ANK3_ENST00000373827.2_Missense_Mutation_p.N685K|ANK3_ENST00000503366.1_Missense_Mutation_p.N674K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	691					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						TATTGCTCAGGTTCACATTCG	0.502													9	181					0	0	1	0	0	C	61946485	G	C	61946485	3	2	10	1	0	0	0	0	1	0	0	0	618	1252	44	5	11501	5	ANK3	10	61946485	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08		61946485	73588262	58	917											
MMRN2	79812	broad.mit.edu	37	chr10	88702296	88702296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaggctgtggaagagccGctggtgctgctccaagctgc	15	10	0	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:88702296G>A	ENST00000372027.4	-	6	2318	c.2245C>T	c.(2245-2247)Cgg>Tgg	p.R749W		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	749						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGGAAGAGCCGCTGGTGCTGC	0.652													13	414					0	0	1	0	0	A	88702296	G	A	88702296	3	1	10	1	0	0	0	0	1	0	0	0	9720	1086	38	1	612	1	MMRN2	10	88702296	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	26755811	88702296	46832451	59	918											
FOXI2	399823	broad.mit.edu	37	chr10	129536923	129536923	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgggaggggccgaggcGccagcgctggagcccccgag	20	13	0	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:129536923G>A	ENST00000388920.4	+	2	690	c.651G>A	c.(649-651)gcG>gcA	p.A217A		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	217					epidermal cell fate specification|otic placode formation|pattern specification process|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			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				GGGCCGAGGCGCCAGCGCTGG	0.687													12	44					0	0	1	0	0	A	129536923	G	A	129536923	2	1	10	1	0	0	0	0	0	0	0	1	6044	1074	38	1		1	FOXI2	10	129536923	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	40834627	129536923	5997824	60	919											
JAKMIP3	282973	broad.mit.edu	37	chr10	133958614	133958614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcccgtcctacagaccCgtgagcagctacaagccgaa	8	16	0	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr10:133958614C>T	ENST00000298622.4	+	11	1744	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C	JAKMIP3_ENST00000477275.1_3'UTR	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)		CCTACAGACCCGTGAGCAGCT	0.572													8	86					0	0	1	0	0	T	133958614	C	T	133958614	3	4	10	1	0	0	0	0	1	0	0	0	7986	652	23	1	1648	1	JAKMIP3	10	133958614	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	4421691	133958614	1576133	61	920											
B4GALNT4	338707	broad.mit.edu	37	chr11	373804	373804	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacaagcaggacgaccgCggctcggaccacgtggaagt	14	13	0	0	rs149327151	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:373804C>T	ENST00000329962.6	+	8	759	c.759C>T	c.(757-759)cgC>cgT	p.R253R		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	253						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)		AGGACGACCGCGGCTCGGACC	0.642													10	329					0	0	1	0	0	T	373804	C	T	373804	2	4	10	1	0	0	0	0	0	0	0	1	1267	755	27	1		1	B4GALNT4	11	373804	Silent	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		373804	134632712	62	921											
RBMXL2	27288	broad.mit.edu	37	chr11	7111150	7111150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagacggctacggaggtcgcGaccgtgactacggggatcat	16	10	1	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:7111150G>A	ENST00000306904.5	+	1	986	c.799G>A	c.(799-801)Gac>Aac	p.D267N		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	267	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)		CGGAGGTCGCGACCGTGACTA	0.672													32	189					0	0	1	0	0	A	7111150	G	A	7111150	3	1	10	1	0	0	0	0	1	0	0	0	13206	1058	37	1	801	1	RBMXL2	11	7111150	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	6737346	7111150	127895366	63	922											
USH1C	10083	broad.mit.edu	37	chr11	17531093	17531093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgggtgggaacggatggcGggggagggatgggaatgggg	25	3	0	0	rs41282932	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:17531093G>A	ENST00000005226.7	-	18	1822	c.1823C>T	c.(1822-1824)cCg>cTg	p.P608L	USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527720.1_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						AACGGATGGCGGGGGAGGGAT	0.662													3	99					0	0	1	0	0	A	17531093	G	A	17531093	3	1	10	1	0	0	0	0	1	0	0	0	17094	1116	39	1	916	1	USH1C	11	17531093	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	10419943	17531093	117475423	64	923											
ATM	472	broad.mit.edu	37	chr11	108141784	108141791	+	Splice_Site	DEL	ATCTTAGT	ATCTTAGT	-													tgatttttttccctcctaccAtcttagtatctaatgctttt							TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:108141784_108141791delATCTTAGT	ENST00000278616.4	+	19	3223_3224	c.2838_splice	c.e19-1	p.I946_splice	ATM_ENST00000452508.2_Splice_Site_p.I946_splice	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	946					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)		CCCTCCTACCATCTTAGTATCTAATGCT	0.389			"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)			23	203	---	---	---	---						-	108141791	ATCTTAGT	-	108141784	8	5	10	1	0	1	0	1	0	0	1	0	1108	232	8	0		0	ATM	11	108141784	Splice_Site	DEL	ATCTTAGT	TCGA-FZ-5923-01A-12D-1609-08	90610691	108141784	26864732	65	924											
IFT46	56912	broad.mit.edu	37	chr11	118427683	118427685	+	In_Frame_Del	DEL	ATC	ATC	-													tcagaatcagtttcagatgaAtcatcatcatcatcatcgtc							TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:118427683_118427685delATC	ENST00000264020.2	-	5	651_653	c.274_276delGAT	c.(274-276)del	p.D92del	IFT46_ENST00000264021.3_In_Frame_Del_p.D41del|IFT46_ENST00000530872.1_In_Frame_Del_p.D92del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	41					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						TTTCAGATGAatcatcatcatca	0.478													7	583	---	---	---	---						-	118427685	ATC	-	118427683	7	5	10	1	0	1	0	1	0	0	0	0	7604	98	4	0	827	0	IFT46	11	118427683	In_Frame_Del	DEL	ATC	TCGA-FZ-5923-01A-12D-1609-08	10285899	118427683	16578833	66	925											
OR8B12	219858	broad.mit.edu	37	chr11	124413511	124413511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggctggtgggttaagccttCgaggataaactctgtcacag	13	9	2	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr11:124413511C>T	ENST00000306842.2	-	1	64	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	14					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)		GTTAAGCCTTCGAGGATAAAC	0.527													46	341					0	0	1	0	0	T	124413511	C	T	124413511	3	4	10	1	0	0	0	0	1	0	0	0	11273	893	31	1	894	1	OR8B12	11	124413511	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	5985828	124413511	10593005	67	926											
LRTM2	0	broad.mit.edu	37	chr12	1943539	1943539	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgctcccagctggaggaCgagaatagctcagctgggct	13	11	1	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:1943539C>T	ENST00000543818.1	+	5	1607	c.765C>T	c.(763-765)gaC>gaT	p.D255D	CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Silent_p.D255D|LRTM2_ENST00000299194.1_Silent_p.D255D|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585732.1_Intron	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	255						integral to membrane				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)			AGCTGGAGGACGAGAATAGCT	0.637													23	237					0	0	1	0	0	T	1943539	C	T	1943539	2	4	10	1	0	0	0	0	0	0	0	1	9090	535	19	1		1	LRTM2	12	1943539	Silent	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		1943539	131908356	68	927											
C12orf39	80763	broad.mit.edu	37	chr12	21680123	21680123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgctctacctgaaagggGcacgtaagttccaaatattt	8	9	1	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:21680123G>A	ENST00000256969.2	+	3	308	c.142G>A	c.(142-144)Gca>Aca	p.A48T		NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN	chromosome 12 open reading frame 39	48						extracellular region|nucleus|transport vesicle				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CCTGAAAGGGGCACGTAAGTT	0.458													18	443					0	0	1	0	0	A	21680123	G	A	21680123	3	1	10	1	0	0	0	0	1	0	0	0	1690	1203	42	2	152	2	C12orf39	12	21680123	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	19736584	21680123	112171772	69	928											
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-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	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)			11	108					0	0	1	0	0	T	25398284	C	T	25398284	3	4	10	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	3718161	25398284	108453611	70	929											
THAP2	83591	broad.mit.edu	37	chr12	72070632	72070632	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatcattaaactggaaaaagAaatagcaagcttaagaagaa	8	4	1	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:72070632A>T	ENST00000308086.2	+	3	1932	c.431A>T	c.(430-432)gAa>gTa	p.E144V	RP11-293I14.2_ENST00000548802.1_Intron	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	144						nucleolus	DNA binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						CTGGAAAAAGAAATAGCAAGC	0.358													33	248					0	0	1	0	0	T	72070632	A	T	72070632	3	4	10	1	0	0	0	0	1	0	0	0	15904	246	9	5	441	5	THAP2	12	72070632	Missense_Mutation	SNP	A	TCGA-FZ-5923-01A-12D-1609-08	46672348	72070632	61781263	71	930											
NOS1	4842	broad.mit.edu	37	chr12	117768312	117768312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactctggttgctttcttcGcggggtcctggcctgggggc	16	11	2	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:117768312G>A	ENST00000317775.6	-	2	1248	c.563C>T	c.(562-564)gCg>gTg	p.A188V	NOS1_ENST00000338101.4_Missense_Mutation_p.A188V|NOS1_ENST00000344089.3_Missense_Mutation_p.A188V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	188	Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.				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)	TGCTTTCTTCGCGGGGTCCTG	0.632													31	775					0	0	1	0	0	A	117768312	G	A	117768312	3	1	10	1	0	0	0	0	1	0	0	0	10588	1087	38	1	3853	1	NOS1	12	117768312	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	45697680	117768312	16083583	72	931											
EP400	57634	broad.mit.edu	37	chr12	132466743	132466743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcagaacgctgccagctTgcacaccccactgccgcagc	10	18	0	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr12:132466743T>C	ENST00000333577.4	+	6	1866	c.1757T>C	c.(1756-1758)tTg>tCg	p.L586S	EP400_ENST00000330386.6_Missense_Mutation_p.L550S|EP400_ENST00000332482.4_Missense_Mutation_p.L513S|EP400_ENST00000389562.2_Missense_Mutation_p.L549S|EP400_ENST00000389561.2_Missense_Mutation_p.L550S			Q96L91	EP400_HUMAN	E1A binding protein p400	586					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)		GCTGCCAGCTTGCACACCCCA	0.697													48	632					0	0	1	0	0	C	132466743	T	C	132466743	3	2	10	1	0	0	0	0	1	0	0	0	5177	1821	63	3	1660	3	EP400	12	132466743	Missense_Mutation	SNP	T	TCGA-FZ-5923-01A-12D-1609-08	14698431	132466743	1385152	73	932											
FLT1	2321	broad.mit.edu	37	chr13	28908198	28908198	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccacagtccggcacgtagGtgatttcttaatgccaaatg	10	10	1	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr13:28908198G>T	ENST00000282397.4	-	18	2808	c.2557C>A	c.(2557-2559)Cct>Act	p.P853T	FLT1_ENST00000540678.1_Missense_Mutation_p.P71T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	853	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)	CGGCACGTAGGTGATTTCTTA	0.428													96	700					1.90545e-35	2.09331e-35	1	1	0	T	28908198	G	T	28908198	3	4	10	1	0	0	0	0	1	0	0	0	5974	1261	44	2	1511	2	FLT1	13	28908198	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08		28908198	86261680	74	933											
MTUS2	23281	broad.mit.edu	37	chr13	29598940	29598940	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcttaagtctgggagatacGaatgccaatcaaatcatgtt	8	7	4	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr13:29598940G>A	ENST00000431530.3	+	1	193	c.135G>A	c.(133-135)acG>acA	p.T45T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	35						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						TGGGAGATACGAATGCCAATC	0.438													10	214					0	0	1	0	0	A	29598940	G	A	29598940	2	1	10	1	0	0	0	0	0	0	0	1	10014	1045	37	1		1	MTUS2	13	29598940	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	690742	29598940	85570938	75	934											
SPTB	6710	broad.mit.edu	37	chr14	65271700	65271700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagcttgatgagcatgCgcccatcccgcaggtccttg	11	15	0	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr14:65271700C>T	ENST00000389722.3	-	2	310	c.257G>A	c.(256-258)cGc>cAc	p.R86H	SPTB_ENST00000389720.3_Missense_Mutation_p.R86H|SPTB_ENST00000542895.1_Missense_Mutation_p.R86H|SPTB_ENST00000556626.1_Missense_Mutation_p.R86H|SPTB_ENST00000389721.5_Missense_Mutation_p.R86H	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	86	Actin-binding.|CH 1.				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)		GATGAGCATGCGCCCATCCCG	0.582													7	474					0	0	1	0	0	T	65271700	C	T	65271700	3	4	10	1	0	0	0	0	1	0	0	0	15174	768	27	1	6934	1	SPTB	14	65271700	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		65271700	42077840	76	935											
FBN1	2200	broad.mit.edu	37	chr15	48780430	48780430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcaggagatatgcggcattCgtcaatgtctgcacaaaaac	10	9	3	1	rs137854478		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr15:48780430C>T	ENST00000316623.5	-	27	3672	c.3217G>A	c.(3217-3219)Gaa>Aaa	p.E1073K		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1073	EGF-like 16; calcium-binding.		E -> K (in MFS; severe neonatal).		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)		ATGCGGCATTCGTCAATGTCT	0.453													31	296					0	0	1	0	0	T	48780430	C	T	48780430	3	4	10	1	0	0	0	0	1	0	0	0	5735	893	31	1	5558	1	FBN1	15	48780430	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		48780430	53750962	77	936											
POLG	5428	broad.mit.edu	37	chr15	89876526	89876526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgcaacagcaagttggCcgcctccaggtagggcaggc	15	13	0	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr15:89876526C>T	ENST00000268124.5	-	2	793	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	POLG_ENST00000442287.2_Missense_Mutation_p.A154T	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	154					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)			AGCAAGTTGGCCGCCTCCAGG	0.731								DNA polymerases (catalytic subunits)					3	51					0	0	1	0	0	T	89876526	C	T	89876526	3	4	10	1	0	0	0	0	1	0	0	0	12248	739	26	2	3347	2	POLG	15	89876526	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	41096096	89876526	12654866	78	937											
SOX8	30812	broad.mit.edu	37	chr16	1035280	1035280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgcttccactcgccgcGccggccctacgcctcacccc	7	25	1	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:1035280G>A	ENST00000293894.3	+	3	1350	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	412					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)				CACTCGCCGCGCCGGCCCTAC	0.692													23	137					0	0	1	0	0	A	1035280	G	A	1035280	3	1	10	1	0	0	0	0	1	0	0	0	15011	1087	38	1	1245	1	SOX8	16	1035280	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08		1035280	89319473	79	938											
CPPED1	55313	broad.mit.edu	37	chr16	12875067	12875067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcgtggatgaggtcgccGcacagaacgaagaatttggg	16	7	0	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:12875067G>A	ENST00000381774.4	-	2	504	c.264C>T	c.(262-264)tgC>tgT	p.C88C	CPPED1_ENST00000261660.4_Silent_p.C88C|CPPED1_ENST00000433677.2_Silent_p.C88C	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	88							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGAGGTCGCCGCACAGAACGA	0.532													4	127					0	0	1	0	0	A	12875067	G	A	12875067	2	1	10	1	0	0	0	0	0	0	0	1	3845	1079	38	1		1	CPPED1	16	12875067	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	11839787	12875067	77479686	80	939											
ZFHX3	463	broad.mit.edu	37	chr16	72830460	72830460	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggggtggagggggaggtgGtggtggctctggggtctggg	27	3	2	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:72830460G>T	ENST00000268489.5	-	9	6793	c.6121C>A	c.(6121-6123)Cca>Aca	p.P2041T	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1127T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2041	Poly-Pro.				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)				GGGGGAGGTGGTGGTGGCTCT	0.617													21	277					2.89027e-11	3.06722e-11	1	1	0	T	72830460	G	T	72830460	3	4	10	1	0	0	0	0	1	0	0	0	17692	1261	44	2	4998	2	ZFHX3	16	72830460	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	59955393	72830460	17524293	81	940											
CHST6	4166	broad.mit.edu	37	chr16	75512997	75512997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacgtggctacggcacacctCgcgcaccacgcgcaggccgg	13	17	0	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr16:75512997C>T	ENST00000332272.4	-	3	909	c.730G>A	c.(730-732)Gag>Aag	p.E244K	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.E244K	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	244					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						CGGCACACCTCGCGCACCACG	0.716													28	198					0	0	1	0	0	T	75512997	C	T	75512997	3	4	10	1	0	0	0	0	1	0	0	0	3430	893	31	1	461	1	CHST6	16	75512997	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	2682537	75512997	14841756	82	941											
MYH4	4622	broad.mit.edu	37	chr17	10360755	10360755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgcttcagcagtttgtgCcccagagaagaggaaagcca	11	11	1	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:10360755C>T	ENST00000255381.2	-	16	1989	c.1879G>A	c.(1879-1881)Gca>Aca	p.A627T	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	627	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						GCAGTTTGTGCCCCAGAGAAG	0.458													5	304					0	0	1	0	0	T	10360755	C	T	10360755	3	4	10	1	0	0	0	0	1	0	0	0	10085	739	26	2	4040	2	MYH4	17	10360755	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		10360755	70834455	83	942											
IGFBP4	3487	broad.mit.edu	37	chr17	38612726	38612726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagctctggatgggcagcGtggcaagtgctggtgtgtgg	18	9	1	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:38612726G>A	ENST00000269593.4	+	4	943	c.668G>A	c.(667-669)cGt>cAt	p.R223H	IGFBP4_ENST00000542955.1_Missense_Mutation_p.R123H	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	223	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)			GATGGGCAGCGTGGCAAGTGC	0.627													9	443					0	0	1	0	0	A	38612726	G	A	38612726	3	1	10	1	0	0	0	0	1	0	0	0	7625	1145	40	1	682	1	IGFBP4	17	38612726	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	28251971	38612726	42582484	84	943											
ASB16	92591	broad.mit.edu	37	chr17	42255678	42255678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggttgggaagccgctgcCggcagggtgccacccggctg	17	14	0	0	rs75035743	byFrequency	TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:42255678C>T	ENST00000293414.1	+	5	1366	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000591166.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	428	SOCS box.				intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AAGCCGCTGCCGGCAGGGTGC	0.677													7	131					0	0	1	0	0	T	42255678	C	T	42255678	3	4	10	1	0	0	0	0	1	0	0	0	1019	643	23	1	1300	1	ASB16	17	42255678	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	3642952	42255678	38939532	85	944											
SDK2	54549	broad.mit.edu	37	chr17	71354323	71354323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaccgcacgatgatgggcaCgccaggcggtcctggggcac	16	13	0	1	rs146597384		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:71354323C>T	ENST00000392650.3	-	40	5488	c.5488G>A	c.(5488-5490)Gtg>Atg	p.V1830M	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.V1811M	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1830	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						ATGATGGGCACGCCAGGCGGT	0.652													82	780					0	0	1	0	0	T	71354323	C	T	71354323	3	4	10	1	0	0	0	0	1	0	0	0	14023	536	19	1	1054	1	SDK2	17	71354323	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	29098645	71354323	9840887	86	945											
SEC14L1	6397	broad.mit.edu	37	chr17	75205427	75205427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgtttcttcttccagtgcGaagtgccagagggtggactg	14	8	2	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:75205427G>A	ENST00000413679.2	+	14	1783	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	SEC14L1_ENST00000430767.4_Missense_Mutation_p.E494K|SEC14L1_ENST00000431431.2_Missense_Mutation_p.E460K|SEC14L1_ENST00000436233.4_Missense_Mutation_p.E494K|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E494K|SEC14L1_ENST00000585618.1_Missense_Mutation_p.E494K|SEC14L1_ENST00000443798.4_Missense_Mutation_p.E494K|SEC14L1_ENST00000591437.1_Missense_Mutation_p.E460K	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	494	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						CTTCCAGTGCGAAGTGCCAGA	0.547													6	171					0	0	1	0	0	A	75205427	G	A	75205427	3	1	10	1	0	0	0	0	1	0	0	0	14035	1059	37	1	1526	1	SEC14L1	17	75205427	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	3851104	75205427	5989783	87	946											
TNRC6C	57690	broad.mit.edu	37	chr17	76047044	76047044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggttggaatgacaccaCgagatctgggaacagtggct	14	8	2	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr17:76047044C>T	ENST00000335749.4	+	3	2470	c.1901C>T	c.(1900-1902)aCg>aTg	p.T634M	TNRC6C_ENST00000588061.1_Missense_Mutation_p.T634M|TNRC6C_ENST00000541771.1_Missense_Mutation_p.T634M|TNRC6C_ENST00000544502.1_Missense_Mutation_p.T634M|TNRC6C_ENST00000588847.1_Missense_Mutation_p.T634M|TNRC6C_ENST00000301624.4_Missense_Mutation_p.T634M	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	634	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)			AATGACACCACGAGATCTGGG	0.507													9	270					0	0	1	0	0	T	76047044	C	T	76047044	3	4	10	1	0	0	0	0	1	0	0	0	16402	536	19	1	1903	1	TNRC6C	17	76047044	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	841617	76047044	5148166	88	947											
ADCYAP1	116	broad.mit.edu	37	chr18	909573	909573	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaagaaatacttggcggcCgtcctagggaagaggtataa	13	7	1	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr18:909573C>T	ENST00000579794.1	+	4	746	c.468C>T	c.(466-468)gcC>gcT	p.A156A	ADCYAP1_ENST00000450565.3_Silent_p.A156A	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	156	Important for receptor binding.				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						ACTTGGCGGCCGTCCTAGGGA	0.527													48	781					0	0	1	0	0	T	909573	C	T	909573	2	4	10	1	0	0	0	0	0	0	0	1	301	639	23	1		1	ADCYAP1	18	909573	Silent	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		909573	77167675	89	948											
RBBP8	5932	broad.mit.edu	37	chr18	20572961	20572961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcacacatcacagtcttGggtctgaagtgaacaagatc	8	9	4	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr18:20572961G>A	ENST00000399722.2	+	11	1522	c.1171G>A	c.(1171-1173)Ggg>Agg	p.G391R	RBBP8_ENST00000399725.2_Missense_Mutation_p.G391R|RBBP8_ENST00000327155.5_Missense_Mutation_p.G391R|RBBP8_ENST00000360790.5_Missense_Mutation_p.G391R	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	391					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)			TCACAGTCTTGGGTCTGAAGT	0.333								Homologous recombination					107	725					0	0	1	0	0	A	20572961	G	A	20572961	3	1	10	1	0	0	0	0	1	0	0	0	13157	1348	47	2	1209	2	RBBP8	18	20572961	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	19663388	20572961	57504287	90	949											
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-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	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													35	333					0	0	1	0	0	T	48591918	C	T	48591918	3	4	10	1	0	0	0	0	1	0	0	0	14814	884	31	1	1111	1	SMAD4	18	48591918	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	28018957	48591918	29485330	91	950											
PCSK4	54760	broad.mit.edu	37	chr19	1487059	1487059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagcgtgcccagcccgccGcggccctgggaaaccaggag	15	15	0	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:1487059G>A	ENST00000300954.5	-	8	922	c.861C>T	c.(859-861)cgC>cgT	p.R287R		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	287	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)		CCAGCCCGCCGCGGCCCTGGG	0.697													19	226					0	0	1	0	0	A	1487059	G	A	1487059	2	1	10	1	0	0	0	0	0	0	0	1	11649	1074	38	1		1	PCSK4	19	1487059	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08		1487059	57641924	92	951											
OR2Z1	284383	broad.mit.edu	37	chr19	8841411	8841411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggggatgtgaatcagtcGgtggcctcagacttcattct	13	8	4	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:8841411G>A	ENST00000324060.2	+	1	96	c.21G>A	c.(19-21)tcG>tcA	p.S7S		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	7					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						TGAATCAGTCGGTGGCCTCAG	0.507													10	255					0	0	1	0	0	A	8841411	G	A	8841411	2	1	10	1	0	0	0	0	0	0	0	1	11084	1103	39	1		1	OR2Z1	19	8841411	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	7354352	8841411	50287572	93	952											
KANK2	25959	broad.mit.edu	37	chr19	11304177	11304177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcttccgcagggcaccCgccatctgctcccgcacgtg	11	19	1	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:11304177C>T	ENST00000432929.2	-	4	939	c.579G>A	c.(577-579)gcG>gcA	p.A193A	KANK2_ENST00000589359.1_Silent_p.A193A|KANK2_ENST00000589894.1_Silent_p.A193A|KANK2_ENST00000586659.1_Silent_p.A193A|KANK2_ENST00000355150.5_Silent_p.A193A	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	193										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCAGGGCACCCGCCATCTGCT	0.677													11	233					0	0	1	0	0	T	11304177	C	T	11304177	2	4	10	1	0	0	0	0	0	0	0	1	8021	639	23	1		1	KANK2	19	11304177	Silent	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	2462766	11304177	47824806	94	953											
ZNF799	90576	broad.mit.edu	37	chr19	12502559	12502559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtttctctccagtgtgcGttctctcatgcatatgtaat	8	9	3	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:12502559G>A	ENST00000419318.1	-	4	1306	c.557C>T	c.(556-558)aCg>aTg	p.T186M	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.T218M			Q96GE5	ZN799_HUMAN	zinc finger protein 799	218					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						TCCAGTGTGCGTTCTCTCATG	0.403													94	682					0	0	1	0	0	A	12502559	G	A	12502559	3	1	10	1	0	0	0	0	1	0	0	0	18215	1145	40	1	1282	1	ZNF799	19	12502559	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	1198382	12502559	46626424	95	954											
EMR2	30817	broad.mit.edu	37	chr19	14862377	14862377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgagtagttgaccaccGtcaggttccgtgcagtgagg	14	9	1	3	rs45563436		TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:14862377G>A	ENST00000315576.3	-	16	2346	c.1895C>T	c.(1894-1896)aCg>aTg	p.T632M	EMR2_ENST00000346057.1_Missense_Mutation_p.T583M|EMR2_ENST00000594294.1_Missense_Mutation_p.T583M|EMR2_ENST00000596991.2_Missense_Mutation_p.T621M|EMR2_ENST00000353876.1_Missense_Mutation_p.T539M|EMR2_ENST00000392965.3_Missense_Mutation_p.T574M|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000392967.2_Missense_Mutation_p.T621M|EMR2_ENST00000601345.1_Missense_Mutation_p.T621M|EMR2_ENST00000594076.1_Missense_Mutation_p.T539M|EMR2_ENST00000595839.1_Missense_Mutation_p.T490M|EMR2_ENST00000353005.1_Missense_Mutation_p.T490M	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	632					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						GTTGACCACCGTCAGGTTCCG	0.557													46	344					0	0	1	0	0	A	14862377	G	A	14862377	3	1	10	1	0	0	0	0	1	0	0	0	5133	1145	40	1	600	1	EMR2	19	14862377	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	2359818	14862377	44266606	96	955											
LRP3	4037	broad.mit.edu	37	chr19	33696374	33696374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctgcctgtggagcggcGctgtgacggcttgcaggact	16	12	0	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:33696374G>A	ENST00000253193.7	+	5	900	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	233	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)					GTGGAGCGGCGCTGTGACGGC	0.756													3	46					0	0	1	0	0	A	33696374	G	A	33696374	3	1	10	1	0	0	0	0	1	0	0	0	9003	1087	38	1	716	1	LRP3	19	33696374	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	18833997	33696374	25432609	97	956											
CAPN12	147968	broad.mit.edu	37	chr19	39227921	39227921	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccccccgcgctgggccccGtgcccctgcagccccccagc	11	25	0	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:39227921G>C	ENST00000328867.4	-	10	1545	c.1237C>G	c.(1237-1239)Cgg>Ggg	p.R413G	CAPN12_ENST00000601953.1_Missense_Mutation_p.R264G	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	413	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)			GCTGGGCCCCGTGCCCCTGCA	0.682													4	12					0	0	1	0	0	C	39227921	G	C	39227921	3	2	10	1	0	0	0	0	1	0	0	0	2643	1144	40	5	970	5	CAPN12	19	39227921	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	5531547	39227921	19901062	98	957											
SHKBP1	92799	broad.mit.edu	37	chr19	41089528	41089528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcagaagttccccttgcGcatgaaagacaacgacctcc	9	13	0	3			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:41089528G>A	ENST00000291842.5	+	12	1119	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	SHKBP1_ENST00000600733.1_Missense_Mutation_p.R332H	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	357						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)			TTCCCCTTGCGCATGAAAGAC	0.622													54	615					0	0	1	0	0	A	41089528	G	A	41089528	3	1	10	1	0	0	0	0	1	0	0	0	14339	1087	38	1	1116	1	SHKBP1	19	41089528	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	1861607	41089528	18039455	99	958											
VSTM1	284415	broad.mit.edu	37	chr19	54544289	54544289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagctgcctcagacagggCgctggtgcttagctcagcat	13	11	2	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:54544289C>T	ENST00000338372.2	-	9	812	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	VSTM1_ENST00000376626.1_Missense_Mutation_p.A182T|VSTM1_ENST00000366170.2_Missense_Mutation_p.A125T|VSTM1_ENST00000425006.2_3'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	213						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)		TCAGACAGGGCGCTGGTGCTT	0.517													6	190					0	0	1	0	0	T	54544289	C	T	54544289	3	4	10	1	0	0	0	0	1	0	0	0	17288	768	27	1	77	1	VSTM1	19	54544289	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	13454761	54544289	4584694	100	959											
LILRB1	0	broad.mit.edu	37	chr19	55147979	55147979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagacccccaggcagtgaCgtatgccgaggtgaaacact	12	11	0	4			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr19:55147979C>T	ENST00000396331.1	+	15	2039	c.1682C>T	c.(1681-1683)aCg>aTg	p.T561M	LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396317.1_Missense_Mutation_p.T545M|LILRB1_ENST00000396315.1_Missense_Mutation_p.T563M|LILRB1_ENST00000396321.2_Missense_Mutation_p.T561M|LILRB1_ENST00000434867.2_Missense_Mutation_p.T561M|LILRB1_ENST00000396327.3_Missense_Mutation_p.T562M|LILRB1_ENST00000427581.2_Missense_Mutation_p.T612M|LILRB1_ENST00000324602.7_Missense_Mutation_p.T563M|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000418536.2_Missense_Mutation_p.T545M|LILRB1_ENST00000396332.4_Missense_Mutation_p.T562M|AC009892.10_ENST00000456337.1_Intron	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	561					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)		CAGGCAGTGACGTATGCCGAG	0.567										HNSCC(37;0.09)			7	319					0	0	1	0	0	T	55147979	C	T	55147979	3	4	10	1	0	0	0	0	1	0	0	0	8830	536	19	1	1738	1	LILRB1	19	55147979	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	603690	55147979	3981004	101	960											
ACSS1	84532	broad.mit.edu	37	chr20	24993297	24993297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctggtactgcagggtggtCggcctgtgtacaacagagaa	14	8	1	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr20:24993297C>T	ENST00000537502.1	-	10	2993	c.1462G>A	c.(1462-1464)Gac>Aac	p.D488N	ACSS1_ENST00000323482.4_Missense_Mutation_p.D571N|ACSS1_ENST00000542618.1_Missense_Mutation_p.D450N|ACSS1_ENST00000432802.2_Intron			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	571			V -> M (in dbSNP:rs6050249).		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)	GCAGGGTGGTCGGCCTGTGTA	0.577													22	664					0	0	1	0	0	T	24993297	C	T	24993297	3	4	10	1	0	0	0	0	1	0	0	0	188	884	31	1	370	1	ACSS1	20	24993297	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08		24993297	38032223	102	961											
PYGB	5834	broad.mit.edu	37	chr20	25259058	25259058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtccaagttcggctgccGggaccctgtgagaacctgtt	13	12	0	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr20:25259058G>A	ENST00000216962.4	+	8	1069	c.959G>A	c.(958-960)cGg>cAg	p.R320Q		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	320					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)	TTCGGCTGCCGGGACCCTGTG	0.622													9	359					0	0	1	0	0	A	25259058	G	A	25259058	3	1	10	1	0	0	0	0	1	0	0	0	12912	1116	39	1	989	1	PYGB	20	25259058	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	265761	25259058	37766462	103	962											
DLGAP4	22839	broad.mit.edu	37	chr20	35060245	35060245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacggaggccttcgcccGcgaggcccgcttccccgggc	14	20	0	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr20:35060245G>A	ENST00000373913.3	+	3	605	c.125G>A	c.(124-126)cGc>cAc	p.R42H	DLGAP4_ENST00000373907.2_Missense_Mutation_p.R42H|DLGAP4_ENST00000339266.5_Missense_Mutation_p.R42H|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R42H			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	42					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)				GCCTTCGCCCGCGAGGCCCGC	0.697													52	330					0	0	1	0	0	A	35060245	G	A	35060245	3	1	10	1	0	0	0	0	1	0	0	0	4590	1087	38	1	127	1	DLGAP4	20	35060245	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	9801187	35060245	27965275	104	963											
ADAMTS5	11096	broad.mit.edu	37	chr21	28337977	28337977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcctgagcccccagcgggcGagagagcggactggtccaag	16	13	0	2			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:28337977G>A	ENST00000284987.5	-	1	855	c.734C>T	c.(733-735)tCg>tTg	p.S245L		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	245					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						CCCAGCGGGCGAGAGAGCGGA	0.741													7	43					0	0	1	0	0	A	28337977	G	A	28337977	3	1	10	1	0	0	0	0	1	0	0	0	268	1059	37	1	2090	1	ADAMTS5	21	28337977	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08		28337977	19791918	105	964											
CCT8	10694	broad.mit.edu	37	chr21	30435800	30435800	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcatccatgaggttttcttCtcccttactaaaattcatca	4	11	4	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:30435800C>T	ENST00000286788.4	-	8	1020	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000540844.1_Missense_Mutation_p.E199K|CCT8_ENST00000542732.1_Missense_Mutation_p.E253K	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	272					'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						AGGTTTTCTTCTCCCTTACTA	0.398													6	428					0	0	1	0	0	T	30435800	C	T	30435800	3	4	10	1	0	0	0	0	1	0	0	0	2982	922	32	2	864	2	CCT8	21	30435800	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	2097823	30435800	17694095	106	965											
ITSN1	6453	broad.mit.edu	37	chr21	35147045	35147046	+	Frame_Shift_Ins	INS	-	-	A													gtcacaggctgcaaaacgggINSaacttgaaaggcaacgacaa							TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:35147045_35147046insA	ENST00000381318.3	+	13	1606_1607	c.1318_1319insA	c.(1318-1320)actfs	p.T440fs	ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.T440fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.T403fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.T440fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.T440fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	440	KLERQ.				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						TGCAAAACGGGAACTTGAAAGG	0.376													12	216	---	---	---	---						A	35147046	-	A	35147045	7	5	10	1	0	1	1	0	0	0	0	0	7970	1175	41	0	1364	0	ITSN1	21	35147045	Frame_Shift_Ins	INS	-	TCGA-FZ-5923-01A-12D-1609-08	4711245	35147045	12982850	107	966											
PRDM15	63977	broad.mit.edu	37	chr21	43256271	43256271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctttaggctctctttgCggctgaacaattttgcacac	9	11	1	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:43256271C>T	ENST00000422911.1	-	10	1441	c.1340G>A	c.(1339-1341)cGc>cAc	p.R447H	PRDM15_ENST00000269844.3_Missense_Mutation_p.R776H|PRDM15_ENST00000398548.1_Missense_Mutation_p.R447H|PRDM15_ENST00000447207.2_Missense_Mutation_p.R410H|PRDM15_ENST00000538201.1_Missense_Mutation_p.R410H			P57071	PRD15_HUMAN	PR domain containing 15	776	SET.				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						GCTCTCTTTGCGGCTGAACAA	0.493													5	222					0	0	1	0	0	T	43256271	C	T	43256271	3	4	10	1	0	0	0	0	1	0	0	0	12508	768	27	1	2256	1	PRDM15	21	43256271	Missense_Mutation	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	8109226	43256271	4873624	108	967											
C21orf2	755	broad.mit.edu	37	chr21	45753013	45753013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgggttctcggccagccaCagcacccgcagacgcggcag	13	17	1	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:45753013C>T	ENST00000339818.4	-	4	483	c.276G>A	c.(274-276)ctG>ctA	p.L92L	C21orf2_ENST00000397956.3_Silent_p.L92L|C21orf2_ENST00000496321.1_5'UTR|AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000325223.7_Silent_p.L92L	NM_004928.2	NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	92										endometrium(2)	2				Colorectal(79;0.0806)		CGGCCAGCCACAGCACCCGCA	0.687													12	107					0	0	1	0	0	T	45753013	C	T	45753013	2	4	10	1	0	0	0	0	0	0	0	1	2137	465	17	2		2	C21orf2	21	45753013	Silent	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	2496742	45753013	2376882	109	968											
COL6A2	0	broad.mit.edu	37	chr21	47532319	47532319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaggccgagcgggcccGcgaggagggcatccggctct	18	14	1	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr21:47532319G>A	ENST00000300527.4	+	3	646	c.542G>A	c.(541-543)cGc>cAc	p.R181H	COL6A2_ENST00000310645.5_Missense_Mutation_p.R181H|COL6A2_ENST00000357838.4_Missense_Mutation_p.R181H|COL6A2_ENST00000409416.1_Missense_Mutation_p.R181H|COL6A2_ENST00000397763.1_Missense_Mutation_p.R181H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	181	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)		GAGCGGGCCCGCGAGGAGGGC	0.711													7	142					0	0	1	0	0	A	47532319	G	A	47532319	3	1	10	1	0	0	0	0	1	0	0	0	3723	1087	38	1	548	1	COL6A2	21	47532319	Missense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	1779306	47532319	597576	110	969											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31859948	31859948	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttctttcacacgctctcGtggatctggaaggacgtggg	12	10	5	0			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chr22:31859948G>A	ENST00000397525.1	-	5	527	c.304C>T	c.(304-306)Cga>Tga	p.R102*	EIF4ENIF1_ENST00000344710.5_Intron|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000330125.5_Nonsense_Mutation_p.R102*|EIF4ENIF1_ENST00000397523.1_Nonsense_Mutation_p.R102*|RP11-247I13.11_ENST00000464523.1_RNA|RP11-247I13.8_ENST00000439588.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	102						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						ACACGCTCTCGTGGATCTGGA	0.502													14	310					0	0	1	0	0	A	31859948	G	A	31859948	4	1	10	1	0	0	0	0	0	1	0	0	5063	1153	40	1	2716	1	EIF4ENIF1	22	31859948	Nonsense_Mutation	SNP	G	TCGA-FZ-5923-01A-12D-1609-08		31859948	19444618	111	970											
BEND2	139105	broad.mit.edu	37	chrX	18189251	18189251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatctagccgacaggcttgcGcaagacttagtttttgccaa	9	10	1	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chrX:18189251G>A	ENST00000380033.4	-	13	2187	c.2055C>T	c.(2053-2055)tgC>tgT	p.C685C	BEND2_ENST00000380030.3_Silent_p.C594C	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	685	BEN 2.							p.C685C(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						ACAGGCTTGCGCAAGACTTAG	0.428													33	304					0	0	1	0	0	A	18189251	G	A	18189251	2	1	10	1	0	0	0	0	0	0	0	1	1396	1079	38	1		1	BEND2	23	18189251	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08		18189251	137081309	112	971											
LAS1L	81887	broad.mit.edu	37	chrX	64738237	64738237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatgggggaggcctcagaGccctcctgcaccaggctgtt	13	14	1	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chrX:64738237G>A	ENST00000374811.3	-	12	1597	c.1557C>T	c.(1555-1557)ggC>ggT	p.G519G	LAS1L_ENST00000374807.5_Silent_p.G502G|LAS1L_ENST00000374804.5_Silent_p.G460G|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	519						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						AGGCCTCAGAGCCCTCCTGCA	0.582													20	278					0	0	1	0	0	A	64738237	G	A	64738237	2	1	10	1	0	0	0	0	0	0	0	1	8675	958	34	2		2	LAS1L	23	64738237	Silent	SNP	G	TCGA-FZ-5923-01A-12D-1609-08	46548986	64738237	90532323	113	972											
SEPT6	23157	broad.mit.edu	37	chrX	118763358	118763358	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactggagcagctcagccgcCgtctttctttgcttgaaagc	11	12	3	1			TCGA-FZ-5923-01A-12D-1609-08	TCGA-FZ-5923-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4156a5ba-b841-4ac5-8a74-1ced53a46e8d	6b54618d-2465-4cec-aa6a-fbdfed8f2391	g.chrX:118763358C>T	ENST00000394610.1	-	9	1467	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000394616.4_Silent_p.T343T|SEPT6_ENST00000394617.2_Silent_p.T431T|SEPT6_ENST00000343984.5_Silent_p.T401T|SEPT6_ENST00000360156.7_Silent_p.T401T|SEPT6_ENST00000354416.3_Silent_p.T401T|SEPT6_ENST00000354228.4_Silent_p.T401T|SEPT6_ENST00000489216.1_Silent_p.T401T	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	401					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GCTCAGCCGCCGTCTTTCTTT	0.507			T	MLL	AML								8	551					0	0	1	0	0	T	118763358	C	T	118763358	2	4	10	1	0	0	0	0	0	0	0	1	14122	639	23	1		1	SEPT6	23	118763358	Silent	SNP	C	TCGA-FZ-5923-01A-12D-1609-08	54025121	118763358	36507202	114	973											
CR2	1380	broad.mit.edu	37	chr1	207643052	207643052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccctagaaattttttgccCatcacctccccctattctca	2	17	2	1	rs115418682	by1000genomes	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr1:207643052C>T	ENST00000367057.3	+	6	1019	c.830C>T	c.(829-831)cCa>cTa	p.P277L	CR2_ENST00000367058.3_Missense_Mutation_p.P277L|CR2_ENST00000367059.3_Missense_Mutation_p.P277L|CR2_ENST00000458541.2_Missense_Mutation_p.P277L|CR2_ENST00000485707.1_3'UTR	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	277	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						ATTTTTTGCCCATCACCTCCC	0.428													87	455					0	0	0.870114	0	0	T	207643052	C	T	207643052	3	4	11	1	0	0	0	0	1	0	0	0	3865	594	21	2	852	2	CR2	1	207643052	Missense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08		207643052	41607569	1	974											
PPP2R5A	5525	broad.mit.edu	37	chr1	212459533	212459533	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggacggcttcacccggaaAtcggtccgcaaggcgcagag	15	12	1	1			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr1:212459533A>G	ENST00000261461.2	+	1	655	c.81A>G	c.(79-81)aaA>aaG	p.K27K		NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	27					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)		TCACCCGGAAATCGGTCCGCA	0.701													48	80					0	0	0.870114	0	0	G	212459533	A	G	212459533	2	3	11	1	0	0	0	0	0	0	0	1	12441	98	4	3		3	PPP2R5A	1	212459533	Silent	SNP	A	TCGA-FZ-5924-01A-13D-1609-08	4816481	212459533	36791088	2	975											
PXDN	7837	broad.mit.edu	37	chr2	1668825	1668825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacgactctgtcctgaggcGtcacagtgaactgaggaaga	12	9	2	4			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:1668825G>A	ENST00000252804.4	-	11	1363	c.1313C>T	c.(1312-1314)aCg>aTg	p.T438M		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	438	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)		GTCCTGAGGCGTCACAGTGAA	0.532													22	69					0	0	0.608945	0	0	A	1668825	G	A	1668825	3	1	11	1	0	0	0	0	1	0	0	0	12899	1145	40	1	3178	1	PXDN	2	1668825	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08		1668825	241530548	3	976											
C2orf71	388939	broad.mit.edu	37	chr2	29295775	29295775	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaatcacatggggtgcttgtCcccagcttcaaaggtgggga	14	9	2	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:29295775C>T	ENST00000331664.5	-	1	1352	c.1353G>A	c.(1351-1353)ggG>ggA	p.G451G		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	451					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						GGGTGCTTGTCCCCAGCTTCA	0.542													127	389					0	0	0.870114	0	0	T	29295775	C	T	29295775	2	4	11	1	0	0	0	0	0	0	0	1	2205	842	30	2		2	C2orf71	2	29295775	Silent	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	27626950	29295775	213903598	4	977											
XIRP2	129446	broad.mit.edu	37	chr2	168099977	168099977	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggggggatgtcaagactgTgagatacatgtttgaaactc	14	5	1	3			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:168099977T>C	ENST00000409195.1	+	9	2164	c.2075T>C	c.(2074-2076)gTg>gCg	p.V692A	XIRP2_ENST00000295237.9_Missense_Mutation_p.V692A|XIRP2_ENST00000409273.1_Missense_Mutation_p.V470A|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	517					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						GTCAAGACTGTGAGATACATG	0.403													70	250					0	0	0.870114	0	0	C	168099977	T	C	168099977	3	2	11	1	0	0	0	0	1	0	0	0	17490	1696	59	3	2105	3	XIRP2	2	168099977	Missense_Mutation	SNP	T	TCGA-FZ-5924-01A-13D-1609-08	138804202	168099977	75099396	5	978											
NFE2L2	4780	broad.mit.edu	37	chr2	178098962	178098962	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgacttactccaagatctAtatcttgcctccaaagtatg	5	12	2	1			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:178098962A>G	ENST00000397062.3	-	2	637	c.83T>C	c.(82-84)aTa>aCa	p.I28T	NFE2L2_ENST00000446151.2_Missense_Mutation_p.I12T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.I12T|NFE2L2_ENST00000423513.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000464747.1_Missense_Mutation_p.I12T	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	28					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I28T(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCCAAGATCTATATCTTGCCT	0.358			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			62	207					0	0	0.870114	0	0	G	178098962	A	G	178098962	3	3	11	1	0	0	0	0	1	0	0	0	10415	449	16	3	1750	3	NFE2L2	2	178098962	Missense_Mutation	SNP	A	TCGA-FZ-5924-01A-13D-1609-08	9998985	178098962	65100411	6	979											
ZDBF2	57683	broad.mit.edu	37	chr2	207172204	207172204	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatggcttcaaagagaaaaGcacgctgaattccaaggtag	10	8	1	2			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:207172204G>A	ENST00000374423.3	+	5	3338	c.2952G>A	c.(2950-2952)aaG>aaA	p.K984K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	984							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						AAAGAGAAAAGCACGCTGAAT	0.398													77	254					0	0	0.870114	0	0	A	207172204	G	A	207172204	2	1	11	1	0	0	0	0	0	0	0	1	17657	962	34	2		2	ZDBF2	2	207172204	Silent	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	29073242	207172204	36027169	7	980											
DYTN	391475	broad.mit.edu	37	chr2	207572064	207572064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggctcagagtgagttcCggagctctgggatgcacttg	15	8	2	3			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr2:207572064C>T	ENST00000452335.2	-	3	374	c.258G>A	c.(256-258)ccG>ccA	p.P86P		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	86						plasma membrane	zinc ion binding	p.P86P(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GAGTGAGTTCCGGAGCTCTGG	0.522													13	64					0	0	0.435327	0	0	T	207572064	C	T	207572064	2	4	11	1	0	0	0	0	0	0	0	1	4887	639	23	1		1	DYTN	2	207572064	Silent	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	399860	207572064	35627309	8	981											
COL6A5	256076	broad.mit.edu	37	chr3	130095344	130095344	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tggcgggtccctgcagatagGaaaggctcttcaggaggctc	15	10	2	1			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr3:130095344G>C	ENST00000265379.6	+	3	826	c.332G>C	c.(331-333)gGa>gCa	p.G111A	COL6A5_ENST00000432398.2_Missense_Mutation_p.G111A			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	111	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						CTGCAGATAGGAAAGGCTCTT	0.502													15	42					0	0	0.457914	0	0	C	130095344	G	C	130095344	3	2	11	1	0	0	0	0	1	0	0	0	3725	1174	41	5	338	5	COL6A5	3	130095344	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08		130095344	67927086	9	982											
TERT	0	broad.mit.edu	37	chr5	1268676	1268676	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagcttgttctccatgtcGccgtagcacaggctgcagag	11	12	1	1			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:1268676G>A	ENST00000296820.5	-	7	2416	c.2359C>T	c.(2359-2361)Cga>Tga	p.R787*	TERT_ENST00000310581.5_Silent_p.G847G|TERT_ENST00000334602.6_Silent_p.G847G|TERT_ENST00000508104.2_Nonsense_Mutation_p.R787*			O14746	TERT_HUMAN	telomerase reverse transcriptase	0	Reverse transcriptase.				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)			TCTCCATGTCGCCGTAGCACA	0.627									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				68	264					0	0	0.870114	0	0	A	1268676	G	A	1268676	4	1	11	1	0	0	0	0	0	1	0	0	15823	1074	38	1	889	1	TERT	5	1268676	Nonsense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08		1268676	179646584	10	983											
CDH10	1008	broad.mit.edu	37	chr5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-													gattgacagcagctaaactgAaaaaaaatttctgtccacct							TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)tcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5.				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)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)			7	1315	---	---	---	---						-	24492973	A	-	24492973	7	5	11	1	0	1	0	1	0	0	0	0	3118	246	9	0	801	0	CDH10	5	24492973	Frame_Shift_Del	DEL	A	TCGA-FZ-5924-01A-13D-1609-08	23224297	24492973	156422287	11	984											
IL31RA	133396	broad.mit.edu	37	chr5	55206448	55206448	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcaggtcatggccagcacCagtgctgggggaaccaacgg	15	11	2	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:55206448C>A	ENST00000396834.1	+	14	2029	c.1533C>A	c.(1531-1533)acC>acA	p.T511T	IL31RA_ENST00000354961.4_Silent_p.T511T|IL31RA_ENST00000359040.5_Silent_p.T530T|IL31RA_ENST00000490985.1_Silent_p.T388T|IL31RA_ENST00000447346.2_Silent_p.T530T	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	498	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)				TGGCCAGCACCAGTGCTGGGG	0.473													134	584					4.28411e-51	4.66074e-51	0.870114	1	0	A	55206448	C	A	55206448	2	1	11	1	0	0	0	0	0	0	0	1	7735	581	21	2		2	IL31RA	5	55206448	Silent	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	30713475	55206448	125708812	12	985											
WDR36	134430	broad.mit.edu	37	chr5	110428198	110428198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggccagcgcgctttttgCggggttccgggccttgggac	16	13	0	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:110428198C>T	ENST00000506538.2	+	1	785	c.212C>T	c.(211-213)gCg>gTg	p.A71V	WDR36_ENST00000505303.1_Missense_Mutation_p.A15V|WDR36_ENST00000513710.2_Missense_Mutation_p.A71V	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	71					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)		GCGCTTTTTGCGGGGTTCCGG	0.612													7	357					0	0	0.248553	0	0	T	110428198	C	T	110428198	3	4	11	1	0	0	0	0	1	0	0	0	17350	768	27	1	214	1	WDR36	5	110428198	Missense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	55221750	110428198	70487062	13	986											
PCDHGA11	0	broad.mit.edu	37	chr5	140800914	140800914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattcggtgccagaagagacCgaaaagggctccttcgtggg	14	9	0	2	rs147068995	by1000genomes	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:140800914C>T	ENST00000398587.2	+	1	153	c.120C>T	c.(118-120)acC>acT	p.T40T	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Silent_p.T40T|PCDHGA2_ENST00000394576.2_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)			CAGAAGAGACCGAAAAGGGCT	0.652													119	200					0	0	0.870114	0	0	T	140800914	C	T	140800914	2	4	11	1	0	0	0	0	0	0	0	1	11599	639	23	1		1	PCDHGA11	5	140800914	Silent	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	30372716	140800914	40114346	14	987											
UNC5A	90249	broad.mit.edu	37	chr5	176301302	176301304	+	In_Frame_Del	DEL	CAC	CAC	-													accatccagccggacctcagCaccaccaccaccacctacca							TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr5:176301302_176301304delCAC	ENST00000329542.4	+	8	1387_1389	c.1113_1115delCAC	c.(1111-1116)agc>ag	p.ST371del	UNC5A_ENST00000261961.3_In_Frame_Del_p.ST331del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	371					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)			CGGACCTCAGCACCACCACCACC	0.645													7	823	---	---	---	---						-	176301304	CAC	-	176301302	7	5	11	1	0	1	0	1	0	0	0	0	17051	709	25	0	1143	0	UNC5A	5	176301302	In_Frame_Del	DEL	CAC	TCGA-FZ-5924-01A-13D-1609-08	35500388	176301302	4613958	15	988											
MPP6	51678	broad.mit.edu	37	chr7	24690147	24690147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taatgatctggtaattgcccGaatcctccatgggggaatga	11	8	1	2			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr7:24690147G>A	ENST00000396475.2	+	6	766	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	MPP6_ENST00000409761.1_Missense_Mutation_p.R44Q|MPP6_ENST00000222644.4_Missense_Mutation_p.R156Q	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	156	PDZ.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GTAATTGCCCGAATCCTCCAT	0.353													7	400					0	0	0.27861	0	0	A	24690147	G	A	24690147	3	1	11	1	0	0	0	0	1	0	0	0	9787	1058	37	1	481	1	MPP6	7	24690147	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08		24690147	134448516	16	989											
MMP16	4325	broad.mit.edu	37	chr8	89086968	89086968	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcactcgccaaaaccactGgtcctgcaaaccaagcaaag	6	15	1	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr8:89086968G>A	ENST00000286614.6	-	7	1368	c.1087C>T	c.(1087-1089)Cag>Tag	p.Q363*	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	363	Hemopexin-like 1.				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						CAAAACCACTGGTCCTGCAAA	0.498													99	329					0	0	0.870114	0	0	A	89086968	G	A	89086968	4	1	11	1	0	0	0	0	0	1	0	0	9703	1357	47	2	908	2	MMP16	8	89086968	Nonsense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08		89086968	57277054	17	990											
TAF2	6873	broad.mit.edu	37	chr8	120843973	120843973	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagacgacctgatgggttgTatattaataaatataaaaag	9	4	0	2			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr8:120843973T>C	ENST00000378164.2	-	2	382		c.e2-2			NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa						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)			TGATGGGTTGtatattaataa	0.244													60	158					0	0	0.870114	0	0	C	120843973	T	C	120843973	5	2	11	1	0	0	0	0	0	0	1	0	15581	1652	57	3	3617	3	TAF2	8	120843973	Splice_Site	SNP	T	TCGA-FZ-5924-01A-13D-1609-08	31757005	120843973	25520049	18	991											
OLFML2A	169611	broad.mit.edu	37	chr9	127549437	127549437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgccgctgctcctgtaccGcacctccctcctctctcaac	5	21	2	0	rs147454300	by1000genomes	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr9:127549437G>A	ENST00000373580.3	+	2	274	c.274G>A	c.(274-276)Gca>Aca	p.A92T		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	92										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CTCCTGTACCGCACCTCCCTC	0.617													88	189					0	0	0.870114	0	0	A	127549437	G	A	127549437	3	1	11	1	0	0	0	0	1	0	0	0	10905	1087	38	1	280	1	OLFML2A	9	127549437	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08		127549437	13663994	19	992											
DHTKD1	55526	broad.mit.edu	37	chr10	12142180	12142180	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgaattttacagtccAgaatggagaagatgatggac	10	7	1	5			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:12142180A>G	ENST00000263035.4	+	9	1737	c.1675A>G	c.(1675-1677)Aga>Gga	p.R559G		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	559					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)			TTTACAGTCCAGAATGGAGAA	0.413													259	802					0	0	0.870114	0	0	G	12142180	A	G	12142180	3	3	11	1	0	0	0	0	1	0	0	0	4528	180	7	3	1709	3	DHTKD1	10	12142180	Missense_Mutation	SNP	A	TCGA-FZ-5924-01A-13D-1609-08		12142180	123392567	20	993											
PLXDC2	84898	broad.mit.edu	37	chr10	20534299	20534299	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acagatgacagtgcagctgaGaagaaagggggaaccctcca	13	9	0	4			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:20534299G>C	ENST00000377252.3	+	13	2179	c.1338G>C	c.(1336-1338)gaG>gaC	p.E446D	PLXDC2_ENST00000377242.3_Missense_Mutation_p.E397D|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	446						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						GTGCAGCTGAGAAGAAAGGGG	0.468													84	329					0	0	0.870114	0	0	C	20534299	G	C	20534299	3	2	11	1	0	0	0	0	1	0	0	0	12166	933	33	5	1388	5	PLXDC2	10	20534299	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	8392119	20534299	115000448	21	994											
ANKRD26	22852	broad.mit.edu	37	chr10	27324226	27324226	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatcttttaggttagacacAtcaaaattcattttgtcctg	5	7	3	1			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:27324226A>G	ENST00000376087.4	-	24	3318	c.3153T>C	c.(3151-3153)gaT>gaC	p.D1051D	ANKRD26_ENST00000436985.2_Silent_p.D1067D|ANKRD26_ENST00000376070.3_Silent_p.D608D	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1050						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						GGTTAGACACATCAAAATTCA	0.343													128	332					0	0	0.870114	0	0	G	27324226	A	G	27324226	2	3	11	1	0	0	0	0	0	0	0	1	650	214	8	3		3	ANKRD26	10	27324226	Silent	SNP	A	TCGA-FZ-5924-01A-13D-1609-08	6789927	27324226	108210521	22	995											
PTCHD3	374308	broad.mit.edu	37	chr10	27702139	27702139	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaatgttggtaaattgatcGagcaaatgggtgagccactg	12	5	0	2			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:27702139G>A	ENST00000438700.3	-	1	1158	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	347					spermatid development	integral to membrane	hedgehog receptor activity	p.L347L(1)		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						TAAATTGATCGAGCAAATGGG	0.517													346	1057					0	0	0.870114	0	0	A	27702139	G	A	27702139	2	1	11	1	0	0	0	0	0	0	0	1	12783	1045	37	1		1	PTCHD3	10	27702139	Silent	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	377913	27702139	107832608	23	996											
PLCE1	51196	broad.mit.edu	37	chr10	96005755	96005755	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgacatctttgagcaatccAaagaatacgactctcatggt	7	9	2	3			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:96005755A>G	ENST00000260766.3	+	8	3107	c.2473A>G	c.(2473-2475)Aaa>Gaa	p.K825E	PLCE1_ENST00000371385.3_Missense_Mutation_p.K517E|PLCE1_ENST00000371380.2_Missense_Mutation_p.K825E|PLCE1_ENST00000371375.1_Missense_Mutation_p.K517E	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	825					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)				TGAGCAATCCAAAGAATACGA	0.433													110	295					0	0	0.870114	0	0	G	96005755	A	G	96005755	3	3	11	1	0	0	0	0	1	0	0	0	12082	131	5	3	2785	3	PLCE1	10	96005755	Missense_Mutation	SNP	A	TCGA-FZ-5924-01A-13D-1609-08	68303616	96005755	39528992	24	997											
TAF5	6877	broad.mit.edu	37	chr10	105128042	105128042	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaccgacagactctactggCcgtgctgcagttcctacggc	11	14	1	2			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:105128042C>A	ENST00000369839.3	+	1	319	c.296C>A	c.(295-297)gCc>gAc	p.A99D	TAF5_ENST00000351396.4_Missense_Mutation_p.A99D	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	99	LisH.				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACTCTACTGGCCGTGCTGCAG	0.756													3	52					6.4e-05	6.66947e-05	0.115264	1	0	A	105128042	C	A	105128042	3	1	11	1	0	0	0	0	1	0	0	0	15585	739	26	2	298	2	TAF5	10	105128042	Missense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	9122287	105128042	30406705	25	998											
EBF3	253738	broad.mit.edu	37	chr10	131639152	131639152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccattaagaaatccaggcGagccagggacccctagactg	11	12	0	2			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr10:131639152G>A	ENST00000368648.3	-	14	1562	c.1490C>T	c.(1489-1491)tCg>tTg	p.S497L	EBF3_ENST00000355311.5_Missense_Mutation_p.S506L	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	506	Pro/Ser/Thr-rich.				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)		AAATCCAGGCGAGCCAGGGAC	0.522													162	519					0	0	0.870114	0	0	A	131639152	G	A	131639152	3	1	11	1	0	0	0	0	1	0	0	0	4908	1059	37	1	177	1	EBF3	10	131639152	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	26511110	131639152	3895595	26	999											
SLC22A11	55867	broad.mit.edu	37	chr11	64323727	64323727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggggccccaccagtgcCgccgcttccgccagccacag	11	20	0	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr11:64323727C>T	ENST00000301891.4	+	1	630	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	SLC22A11_ENST00000377585.3_Missense_Mutation_p.R86C|SLC22A11_ENST00000377581.3_Missense_Mutation_p.R86C|SLC22A11_ENST00000490834.1_3'UTR	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	86					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)	CCACCAGTGCCGCCGCTTCCG	0.652											OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	271	696					0	0	0.870114	0	0	T	64323727	C	T	64323727	3	4	11	1	0	0	0	0	1	0	0	0	14497	652	23	1	258	1	SLC22A11	11	64323727	Missense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08		64323727	70682789	27	1000											
LRFN4	78999	broad.mit.edu	37	chr11	66625342	66625342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgaggcctgctgtttgtgCcgcccaacgtggaccggcgc	14	15	0	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr11:66625342C>T	ENST00000309602.4	+	1	370	c.127C>T	c.(127-129)Ccg>Tcg	p.P43S	LRFN4_ENST00000393952.3_Missense_Mutation_p.P43S|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	43	LRRNT.					integral to membrane				breast(1)|lung(1)|prostate(1)	3						GCTGTTTGTGCCGCCCAACGT	0.687													5	276					0	0	0.184627	0	0	T	66625342	C	T	66625342	3	4	11	1	0	0	0	0	1	0	0	0	8985	739	26	2	129	2	LRFN4	11	66625342	Missense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	2301615	66625342	68381174	28	1001											
PC	5091	broad.mit.edu	37	chr11	66637839	66637839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgggtccaggtgggcggcGggggcaatctcgaccacctt	17	12	1	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr11:66637839G>A	ENST00000393960.1	-	9	1118	c.837C>T	c.(835-837)ccC>ccT	p.P279P	PC_ENST00000355677.3_Silent_p.P279P|PC_ENST00000393955.2_Silent_p.P279P|PC_ENST00000524491.1_Silent_p.P239P|PC_ENST00000393958.2_Silent_p.P279P	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	279	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)	GGTGGGCGGCGGGGGCAATCT	0.637													79	435					0	0	0.870114	0	0	A	66637839	G	A	66637839	2	1	11	1	0	0	0	0	0	0	0	1	11544	1103	39	1		1	PC	11	66637839	Silent	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	12497	66637839	68368677	29	1002											
MYEOV	26579	broad.mit.edu	37	chr11	69063185	69063185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggccctgcgtgttgcgGtgagaggagcatttgtgtct	15	10	1	1			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr11:69063185G>A	ENST00000535407.1	+	2	737	c.94G>A	c.(94-96)Gtg>Atg	p.V32M	MYEOV_ENST00000441339.2_Missense_Mutation_p.V90M|MYEOV_ENST00000308946.3_Missense_Mutation_p.V90M			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	90										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)		GCGTGTTGCGGTGAGAGGAGC	0.632													83	578					0	0	0.870114	0	0	A	69063185	G	A	69063185	3	1	11	1	0	0	0	0	1	0	0	0	10073	1261	44	2	274	2	MYEOV	11	69063185	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	2425346	69063185	65943331	30	1003											
B3GAT1	27087	broad.mit.edu	37	chr11	134254062	134254062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccgggcggcgtttcgcGtcgggggtcactgccctcat	17	14	2	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr11:134254062G>A	ENST00000524765.1	-	3	4677	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	B3GAT1_ENST00000312527.4_Missense_Mutation_p.R45C|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R58C|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R45C			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	45					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			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)		GGCGTTTCGCGTCGGGGGTCA	0.711													51	135					0	0	0.870114	0	0	A	134254062	G	A	134254062	3	1	11	1	0	0	0	0	1	0	0	0	1251	1145	40	1	883	1	B3GAT1	11	134254062	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	65190877	134254062	752454	31	1004											
DCP1B	196513	broad.mit.edu	37	chr12	2064701	2064701	+	Frame_Shift_Del	DEL	T	T	-													tggcagaggaactggttatcTtttttggctcagaacaggtt							TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr12:2064701delT	ENST00000280665.6	-	6	627	c.548delA	c.(547-549)agfs	p.K183fs	DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000397173.4_Frame_Shift_Del_p.K81fs|DCP1B_ENST00000540622.1_Frame_Shift_Del_p.K57fs	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	183					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)			ACTGGTTATCTTTTTTGGCTC	0.378													9	1014	---	---	---	---						-	2064701	T	-	2064701	7	5	11	1	0	1	0	1	0	0	0	0	4322	1609	56	0	1321	0	DCP1B	12	2064701	Frame_Shift_Del	DEL	T	TCGA-FZ-5924-01A-13D-1609-08		2064701	131787194	32	1005											
CACNA1C	775	broad.mit.edu	37	chr12	2702421	2702421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagatgcctgtcggccctcGcccacgaccactctctgagc	10	17	1	2			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr12:2702421G>A	ENST00000399655.1	+	19	2838	c.2573G>A	c.(2572-2574)cGc>cAc	p.R858H	CACNA1C_ENST00000480911.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R858H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R883H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R858H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R858H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R858H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R858H	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	858					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)	GTCGGCCCTCGCCCACGACCA	0.512													40	181					0	0	0.819951	0	0	A	2702421	G	A	2702421	3	1	11	1	0	0	0	0	1	0	0	0	2558	1087	38	1	2755	1	CACNA1C	12	2702421	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	637720	2702421	131149474	33	1006											
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-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	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)			19	138					0	0	0.624587	0	0	G	25398285	C	G	25398285	3	3	11	1	0	0	0	0	1	0	0	0	8481	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	22695864	25398285	108453610	34	1007											
ANO6	196527	broad.mit.edu	37	chr12	45803201	45803201	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcagaaaagataaccccaCgatgggaacaggactaccat	9	10	1	2			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr12:45803201C>T	ENST00000320560.8	+	16	2144	c.1942C>T	c.(1942-1944)Cga>Tga	p.R648*	ANO6_ENST00000441606.2_Nonsense_Mutation_p.R630*|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Nonsense_Mutation_p.R669*|ANO6_ENST00000425752.2_Nonsense_Mutation_p.R648*|ANO6_ENST00000435642.1_Nonsense_Mutation_p.R648*	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	648					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						GATAACCCCACGATGGGAACA	0.353													160	332					0	0	0.870114	0	0	T	45803201	C	T	45803201	4	4	11	1	0	0	0	0	0	1	0	0	695	528	19	1	2024	1	ANO6	12	45803201	Nonsense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	20404916	45803201	88048694	35	1008											
FZD10	11211	broad.mit.edu	37	chr12	130647817	130647817	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcctgccgggtcatgtgCgagcaggcccggctcaagtg	15	15	2	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr12:130647817C>T	ENST00000539839.1	+	1	814	c.232C>T	c.(232-234)Cga>Tga	p.R78*	FZD10_ENST00000229030.4_Silent_p.C110C	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0	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)		GGGTCATGTGCGAGCAGGCCC	0.642													31	584					0	0	0.740014	0	0	T	130647817	C	T	130647817	4	4	11	1	0	0	0	0	0	1	0	0	6164	776	27	1	332	1	FZD10	12	130647817	Nonsense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	84844616	130647817	3204078	36	1009											
SPTB	6710	broad.mit.edu	37	chr14	65266502	65266502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcggtaggtgctgaaggCctgcagctgctgctggacgc	18	10	0	1	rs149837193	byFrequency	TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr14:65266502C>T	ENST00000389722.3	-	8	1080	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	SPTB_ENST00000389721.5_Missense_Mutation_p.A343T|SPTB_ENST00000556626.1_Missense_Mutation_p.A343T|SPTB_ENST00000389720.3_Missense_Mutation_p.A343T|SPTB_ENST00000542895.1_Missense_Mutation_p.A343T	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	343					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)		GTGCTGAAGGCCTGCAGCTGC	0.617													105	299					0	0	0.870114	0	0	T	65266502	C	T	65266502	3	4	11	1	0	0	0	0	1	0	0	0	15174	739	26	2	6140	2	SPTB	14	65266502	Missense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08		65266502	42083038	37	1010											
BRF1	2972	broad.mit.edu	37	chr14	105707720	105707720	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctccccgaattccagcagGtgcgcaaagcgtggaatata	10	11	1	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr14:105707720G>T	ENST00000546474.1	-	6	15535	c.576C>A	c.(574-576)caC>caA	p.H192Q	BRF1_ENST00000440513.3_Missense_Mutation_p.H77Q|BRF1_ENST00000551787.1_5'UTR|BRF1_ENST00000392557.4_5'UTR|BRF1_ENST00000446501.2_Intron|BRF1_ENST00000379932.4_5'UTR|BRF1_ENST00000379937.2_Missense_Mutation_p.H165Q|BRF1_ENST00000327359.3_Missense_Mutation_p.H77Q	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	192					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)		ATTCCAGCAGGTGCGCAAAGC	0.632													58	231					7.50695e-29	8.07814e-29	0.870114	1	0	T	105707720	G	T	105707720	3	4	11	1	0	0	0	0	1	0	0	0	1512	1252	44	2	1509	2	BRF1	14	105707720	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	40441218	105707720	1641820	38	1011											
ZFYVE19	84936	broad.mit.edu	37	chr15	41101367	41101367	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgttcaggctgcctaagcttCagtgcagcagtgcctcggac	12	12	2	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr15:41101367C>T	ENST00000355341.4	+	2	831	c.330C>T	c.(328-330)ttC>ttT	p.F110F	ZFYVE19_ENST00000336455.5_Silent_p.F100F|ZFYVE19_ENST00000563530.1_3'UTR|ZFYVE19_ENST00000564258.1_5'UTR|ZFYVE19_ENST00000299173.10_Silent_p.F110F|ZFYVE19_ENST00000570108.1_Silent_p.F87F	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	110							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-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;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCTAAGCTTCAGTGCAGCAG	0.562													9	476					0	0	0.307466	0	0	T	41101367	C	T	41101367	2	4	11	1	0	0	0	0	0	0	0	1	17723	825	29	2		2	ZFYVE19	15	41101367	Silent	SNP	C	TCGA-FZ-5924-01A-13D-1609-08		41101367	61430025	39	1012											
SHC4	399694	broad.mit.edu	37	chr15	49255053	49255053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggggaggctgcggcgagcCcttgttcccgaccgagcctc	16	14	0	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr15:49255053C>T	ENST00000332408.4	-	1	588	c.160G>A	c.(160-162)Ggc>Agc	p.G54S		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	54	CH2.				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)		TGCGGCGAGCCCTTGTTCCCG	0.662													150	418					0	0	0.870114	0	0	T	49255053	C	T	49255053	3	4	11	1	0	0	0	0	1	0	0	0	14328	623	22	2	1780	2	SHC4	15	49255053	Missense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	8153686	49255053	53276339	40	1013											
ARNT2	9915	broad.mit.edu	37	chr15	80800573	80800573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggatgtgcatgggctcGcggcggtctttcatctgcag	15	9	3	1			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr15:80800573G>A	ENST00000533983.1	+	7	1005	c.666G>A	c.(664-666)tcG>tcA	p.S222S	ARNT2_ENST00000527771.1_Silent_p.S222S|ARNT2_ENST00000303329.4_Silent_p.S233S			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	233					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)			GCATGGGCTCGCGGCGGTCTT	0.537													79	320					0	0	0.870114	0	0	A	80800573	G	A	80800573	2	1	11	1	0	0	0	0	0	0	0	1	965	1074	38	1		1	ARNT2	15	80800573	Silent	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	31545520	80800573	21730819	41	1014											
SLC9A3R2	9351	broad.mit.edu	37	chr16	2086466	2086466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacccgggctcacctgccGcccgctctggcctccgcgcc	12	21	2	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr16:2086466G>A	ENST00000424542.2	+	3	694	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A80T|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A186T|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A75T|SLC9A3R2_ENST00000565086.1_3'UTR	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	186	PDZ 2.				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						CTCACCTGCCGCCCGCTCTGG	0.697													20	71					0	0	0.608945	0	0	A	2086466	G	A	2086466	3	1	11	1	0	0	0	0	1	0	0	0	14770	1087	38	1	566	1	SLC9A3R2	16	2086466	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08		2086466	88268287	42	1015											
GPT2	84706	broad.mit.edu	37	chr16	46956249	46956249	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcggtgcgcctgtgcccccCagtgtctgggcaggccgcca	15	16	1	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr16:46956249C>A	ENST00000440783.2	+	9	1498	c.833C>A	c.(832-834)cCa>cAa	p.P278Q	GPT2_ENST00000340124.4_Missense_Mutation_p.P378Q	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	378					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)	CTGTGCCCCCCAGTGTCTGGG	0.607													160	491					3.12418e-63	3.47521e-63	0.870114	1	0	A	46956249	C	A	46956249	3	1	11	1	0	0	0	0	1	0	0	0	6779	594	21	2	1163	2	GPT2	16	46956249	Missense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	44869783	46956249	43398504	43	1016											
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-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	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_ENST00000359597.4_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	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)			67	156					0	0	0.870114	0	0	T	7577538	C	T	7577538	3	4	11	1	0	0	0	0	1	0	0	0	16442	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08		7577538	73617672	44	1017											
SUZ12	23512	broad.mit.edu	37	chr17	30303572	30303572	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttccagccagaagaaaaCgaaatcgtgaggatggggaa	13	7	0	3			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr17:30303572C>T	ENST00000322652.5	+	8	1085	c.856C>T	c.(856-858)Cga>Tga	p.R286*	SUZ12_ENST00000580398.1_Nonsense_Mutation_p.R263*	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	286					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	p.R286*(1)	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)				CAGAAGAAAACGAAATCGTGA	0.343			T	JAZF1	endometrial stromal tumours								5	186					0	0	0.217242	0	0	T	30303572	C	T	30303572	4	4	11	1	0	0	0	0	0	1	0	0	15472	528	19	1	886	1	SUZ12	17	30303572	Nonsense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08	22726034	30303572	50891638	45	1018											
GAS2L2	246176	broad.mit.edu	37	chr17	34077157	34077157	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgctggcggcgaggggTcgggcgggggcagggccagc	26	10	0	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr17:34077157T>G	ENST00000254466.6	-	2	593	c.566A>C	c.(565-567)gAc>gCc	p.D189A	GAS2L2_ENST00000587565.1_Intron	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	189					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)		CGGCGAGGGGTCGGGCGGGGG	0.741													23	363					0	0	0.796494	0	0	G	34077157	T	G	34077157	3	3	11	1	0	0	0	0	1	0	0	0	6287	1667	58	3	2096	3	GAS2L2	17	34077157	Missense_Mutation	SNP	T	TCGA-FZ-5924-01A-13D-1609-08	3773585	34077157	47118053	46	1019											
KRT39	390792	broad.mit.edu	37	chr17	39122914	39122914	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtagatgggcttgcgacaAaagcgaggagtgggttggca	18	5	0	1			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr17:39122914A>G	ENST00000355612.2	-	1	230	c.195T>C	c.(193-195)ttT>ttC	p.F65F	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	65	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)				GCTTGCGACAAAAGCGAGGAG	0.522													214	753					0	0	0.870114	0	0	G	39122914	A	G	39122914	2	3	11	1	0	0	0	0	0	0	0	1	8519	11	1	3		3	KRT39	17	39122914	Silent	SNP	A	TCGA-FZ-5924-01A-13D-1609-08	5045757	39122914	42072296	47	1020											
ZNF428	126299	broad.mit.edu	37	chr19	44111875	44111877	+	In_Frame_Del	DEL	TCC	TCC	-													aggttccctcctcctcctctTcctcctcctcctcccgccca							TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr19:44111875_44111877delTCC	ENST00000300811.3	-	3	905_907	c.459_461delGGA	c.(457-462)gaa>ga	p.EE157del	SRRM5_ENST00000607544.1_Intron|SRRM5_ENST00000526798.1_Intron	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN	zinc finger protein 428	157	Glu-rich.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				ctcctcctcttcctcctcctcct	0.66													7	189	---	---	---	---						-	44111877	TCC	-	44111875	7	5	11	1	0	1	0	1	0	0	0	0	17958	1783	62	0	109	0	ZNF428	19	44111875	In_Frame_Del	DEL	TCC	TCGA-FZ-5924-01A-13D-1609-08		44111875	15017108	48	1021											
SLC8A2	6543	broad.mit.edu	37	chr19	47935504	47935507	+	Frame_Shift_Del	DEL	GCGA	GCGA	-													cggtgcagccgaagtgggagGcgaggtccccaatgagggcg							TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr19:47935504_47935507delGCGA	ENST00000236877.6	-	9	2701_2704	c.2306_2309delTCGC	c.(2305-2310)ccfs	p.LA769fs	SLC8A2_ENST00000542837.1_Frame_Shift_Del_p.LA525fs|SLC8A2_ENST00000539381.1_Frame_Shift_Del_p.LA232fs	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	769					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)		GAAGTGGGAGGCGAGGTCCCCAAT	0.623													97	337	---	---	---	---						-	47935507	GCGA	-	47935504	7	5	11	1	0	1	0	1	0	0	0	0	14762	1203	42	0	464	0	SLC8A2	19	47935504	Frame_Shift_Del	DEL	GCGA	TCGA-FZ-5924-01A-13D-1609-08	3823629	47935504	11193479	49	1022											
HRC	3270	broad.mit.edu	37	chr19	49658442	49658442	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggggggaggagcaggctgGccaccccagcccagaggaca	17	14	0	1			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr19:49658442G>T	ENST00000252825.4	-	1	239	c.53C>A	c.(52-54)gCc>gAc	p.A18D	HRC_ENST00000595625.1_Missense_Mutation_p.A18D	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	18					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)		GAGCAGGCTGGCCACCCCAGC	0.667													107	313					4.22592e-57	4.64852e-57	0.870114	1	0	T	49658442	G	T	49658442	3	4	11	1	0	0	0	0	1	0	0	0	7393	1203	42	2	2070	2	HRC	19	49658442	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	1722938	49658442	9470541	50	1023											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-													cctttctgctccttcctccaTcctcctcctcctcctccagc							TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gat>ga	p.ED67del	TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.					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)					CCTTCCTCCATCCTCCTCCTCCT	0.645													8	724	---	---	---	---						-	54675749	TCC	-	54675747	7	5	11	1	0	1	0	1	0	0	0	0	16047	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-FZ-5924-01A-13D-1609-08	5017305	54675747	4453236	51	1024											
SNAP25	6616	broad.mit.edu	37	chr20	10273541	10273541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctaaccagaacaactcgatCgtgtcgaagaaggcatgaac	9	11	0	3	rs146976467		TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr20:10273541C>T	ENST00000304886.2	+	5	383	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000254976.2_Intron	NM_003081.3	NP_003072.2	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	59	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		p.R59C(1)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	ACAACTCGATCGTGTCGAAGA	0.403													94	344					0	0	0.870114	0	0	T	10273541	C	T	10273541	3	4	11	1	0	0	0	0	1	0	0	0	14884	884	31	1	189	1	SNAP25	20	10273541	Missense_Mutation	SNP	C	TCGA-FZ-5924-01A-13D-1609-08		10273541	52751979	52	1025											
COL6A1	1291	broad.mit.edu	37	chr21	47422162	47422162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgcagtggatggcgggCggcaccttcacgggggaggc	19	11	1	0			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chr21:47422162C>T	ENST00000361866.3	+	32	2211	c.2097C>T	c.(2095-2097)ggC>ggT	p.G699G	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	699	C-terminal globular domain.|VWFA 2.				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)	GGATGGCGGGCGGCACCTTCA	0.697													21	54					0	0	0.592651	0	0	T	47422162	C	T	47422162	2	4	11	1	0	0	0	0	0	0	0	1	3722	755	27	1		1	COL6A1	21	47422162	Silent	SNP	C	TCGA-FZ-5924-01A-13D-1609-08		47422162	707733	53	1026											
RBM10	8241	broad.mit.edu	37	chrX	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-													gactatcggaccgagcaaggGgaggaggaggaggaggagga							TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggg>gg	p.GE112del	RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_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	112					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						CCGAGCAAGGggaggaggaggag	0.66													7	97	---	---	---	---						-	47030563	GGA	-	47030561	7	5	11	1	0	1	0	1	0	0	0	0	13163	1219	43	0	346	0	RBM10	23	47030561	In_Frame_Del	DEL	GGA	TCGA-FZ-5924-01A-13D-1609-08		47030561	108239999	54	1027											
SLC35A2	7355	broad.mit.edu	37	chrX	48761886	48761886	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcagtgacctgggagaaaaGaccatctcccaaacccagag	9	13	2	4			TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chrX:48761886G>A	ENST00000445167.2	-	4	729	c.710C>T	c.(709-711)tCt>tTt	p.S237F	SLC35A2_ENST00000376521.1_3'UTR|SLC35A2_ENST00000413561.2_3'UTR|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000452555.2_3'UTR|SLC35A2_ENST00000376515.3_Missense_Mutation_p.S213F|SLC35A2_ENST00000247138.5_Intron	NM_001032289.1	NP_001027460.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	36					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						TGGGAGAAAAGACCATCTCCC	0.642													27	19					0	0	0.706142	0	0	A	48761886	G	A	48761886	3	1	11	1	0	0	0	0	1	0	0	0	14626	942	33	2	54	2	SLC35A2	23	48761886	Missense_Mutation	SNP	G	TCGA-FZ-5924-01A-13D-1609-08	1731325	48761886	106508674	55	1028											
ZMYM3	9203	broad.mit.edu	37	chrX	70472554	70472555	+	Frame_Shift_Ins	INS	-	-	A													gcggggcatttgggctctgtINSggctgcccttggggaagctc							TCGA-FZ-5924-01A-13D-1609-08	TCGA-FZ-5924-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8a9adaa-884a-4fe3-addf-a9e689c276d0	00935704-940c-4cb0-a0f6-03682d465c6a	g.chrX:70472554_70472555insA	ENST00000373998.1	-	2	1248_1249	c.551_552insT	c.(550-552)ccafs	p.P184fs	ZMYM3_ENST00000373978.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373981.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373982.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373984.3_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000314425.5_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000353904.2_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373988.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000489332.1_5'UTR	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	184					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)					TTGGGCTCTGTGGCTGCCCTTG	0.604													114	137	---	---	---	---						A	70472555	-	A	70472554	7	5	11	1	0	1	1	0	0	0	0	0	17759	1683	59	0	3674	0	ZMYM3	23	70472554	Frame_Shift_Ins	INS	-	TCGA-FZ-5924-01A-13D-1609-08	21710668	70472554	84798006	56	1029											
MMEL1	79258	broad.mit.edu	37	chr1	2530110	2530110	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacctggctgagtaggtgtcGatgatgttttcaaggttctg	13	7	2	2			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:2530110G>A	ENST00000288709.6	-	12	1374	c.1134C>T	c.(1132-1134)atC>atT	p.I378I	MMEL1_ENST00000502556.1_Silent_p.I230I|MMEL1_ENST00000378412.3_Silent_p.I387I	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	387					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)		AGTAGGTGTCGATGATGTTTT	0.542													27	313					0	0	0.681144	0	0	A	2530110	G	A	2530110	2	1	12	1	0	0	0	0	0	0	0	1	9694	1048	37	1		1	MMEL1	1	2530110	Silent	SNP	G	TCGA-FZ-5926-01A-11D-1609-08		2530110	246720511	1	1030											
UBR4	23352	broad.mit.edu	37	chr1	19455510	19455510	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggacaccgccaacgtttcGtaattgaggcagggtctgca	12	12	1	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:19455510G>A	ENST00000375267.2	-	61	8968	c.8965C>T	c.(8965-8967)Cga>Tga	p.R2989*	UBR4_ENST00000375254.3_Nonsense_Mutation_p.R2989*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.R2982*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.R2965*			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2989					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)		CCAACGTTTCGTAATTGAGGC	0.502													23	433					0	0	0.639603	0	0	A	19455510	G	A	19455510	4	1	12	1	0	0	0	0	0	1	0	0	16965	1153	40	1	6770	1	UBR4	1	19455510	Nonsense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	16925400	19455510	229795111	2	1031											
CSMD2	114784	broad.mit.edu	37	chr1	34209014	34209014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccaggacgggcgcctcGgcggtggccccatccttgat	15	15	0	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:34209014G>A	ENST00000373381.4	-	14	2216	c.2040C>T	c.(2038-2040)gcC>gcT	p.A680A		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	640	CUB 4.					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)				CGGGCGCCTCGGCGGTGGCCC	0.612													33	401					0	0	0.769981	0	0	A	34209014	G	A	34209014	2	1	12	1	0	0	0	0	0	0	0	1	3970	1103	39	1		1	CSMD2	1	34209014	Silent	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	14753504	34209014	215041607	3	1032											
C8A	731	broad.mit.edu	37	chr1	57378141	57378141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggaggccaagcgccagaaCctgcgccgcgccttggacca	13	16	0	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:57378141C>A	ENST00000361249.3	+	10	1542	c.1446C>A	c.(1444-1446)aaC>aaA	p.N482K		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	482	MACPF.				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						AGCGCCAGAACCTGCGCCGCG	0.622													14	494					1.49906e-05	1.57309e-05	0.457914	1	0	A	57378141	C	A	57378141	3	1	12	1	0	0	0	0	1	0	0	0	2432	506	18	2	1484	2	C8A	1	57378141	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	23169127	57378141	191872480	4	1033											
HFM1	164045	broad.mit.edu	37	chr1	91851171	91851171	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaagcaactgaaaaagatgGtgctttgaacatgccttctc	9	8	1	3			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:91851171G>T	ENST00000370425.3	-	5	813	c.715C>A	c.(715-717)Cca>Aca	p.P239T	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	239							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)		GAAAAAGATGGTGCTTTGAAC	0.338													9	272					0.000442599	0.000458792	0.335167	1	0	T	91851171	G	T	91851171	3	4	12	1	0	0	0	0	1	0	0	0	7124	1261	44	2	3732	2	HFM1	1	91851171	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	34473030	91851171	157399450	5	1034											
SPAG17	200162	broad.mit.edu	37	chr1	118535130	118535130	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtttcacctcattctttaTgacctcatgctgaatgaatt	5	10	4	3			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:118535130T>G	ENST00000336338.5	-	36	5385	c.5320A>C	c.(5320-5322)Ata>Cta	p.I1774L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1774						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)		TCATTCTTTATGACCTCATGC	0.473													13	547					0	0	0.457914	0	0	G	118535130	T	G	118535130	3	3	12	1	0	0	0	0	1	0	0	0	15035	1464	51	3	1403	3	SPAG17	1	118535130	Missense_Mutation	SNP	T	TCGA-FZ-5926-01A-11D-1609-08	26683959	118535130	130715491	6	1035											
RGS21	431704	broad.mit.edu	37	chr1	192321195	192321195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctggtctagatgcttttcGaatatttctaaaatcagagt	8	6	3	2			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:192321195G>A	ENST00000417209.2	+	4	281	c.107G>A	c.(106-108)cGa>cAa	p.R36Q		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	36	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						GATGCTTTTCGAATATTTCTA	0.299													17	158					0	0	0.575678	0	0	A	192321195	G	A	192321195	3	1	12	1	0	0	0	0	1	0	0	0	13354	1058	37	1	117	1	RGS21	1	192321195	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	73786065	192321195	56929426	7	1036											
OTOF	9381	broad.mit.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-													tctggctcctccgcagtgccCttcttcttcttcttcttctc							TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)del	p.K1310del	OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				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)					CCGCAGTGCCcttcttcttcttc	0.576													8	457	---	---	---	---						-	26693556	CTT	-	26693554	7	5	12	1	0	1	0	1	0	0	0	0	11350	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-FZ-5926-01A-11D-1609-08		26693554	216505819	8	1037											
GAD1	2571	broad.mit.edu	37	chr2	171702549	171702549	+	Frame_Shift_Del	DEL	A	A	-													attccagctgattttgaggcAaaaattcttgaagccaaaca							TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:171702549delA	ENST00000358196.3	+	10	1528	c.978delA	c.(976-978)gcfs	p.A326fs		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	326					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)	ATTTTGAGGCAAAAATTCTTG	0.353													7	476	---	---	---	---						-	171702549	A	-	171702549	7	5	12	1	0	1	0	1	0	0	0	0	6214	117	5	0	1053	0	GAD1	2	171702549	Frame_Shift_Del	DEL	A	TCGA-FZ-5926-01A-11D-1609-08	145008995	171702549	71496824	9	1038											
DFNB59	494513	broad.mit.edu	37	chr2	179319081	179319081	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atttcatcttatcaattactGaattatgaagatgaatcaga	5	5	4	5			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:179319081G>C	ENST00000409117.3	+	3	590	c.234G>C	c.(232-234)ctG>ctC	p.L78L	DFNB59_ENST00000375129.4_Silent_p.L78L	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	78					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			ATCAATTACTGAATTATGAAG	0.299													18	328					0	0	0.592651	0	0	C	179319081	G	C	179319081	2	2	12	1	0	0	0	0	0	0	0	1	4484	1277	45	5		5	DFNB59	2	179319081	Silent	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	7616532	179319081	63880292	10	1039											
TTN	7273	broad.mit.edu	37	chr2	179569272	179569272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcgctagcgatgtgtggaCcacaaaccaatcgataattg	10	9	0	0			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:179569272C>T	ENST00000589042.1	-	105	30151	c.29927G>A	c.(29926-29928)gGt>gAt	p.G9976D	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G9659D|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G8732D|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9659	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)			GATGTGTGGACCACAAACCAA	0.383													8	185					0	0	0.27861	0	0	T	179569272	C	T	179569272	3	4	12	1	0	0	0	0	1	0	0	0	16797	507	18	2	74634	2	TTN	2	179569272	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	250191	179569272	63630101	11	1040											
TFPI	7035	broad.mit.edu	37	chr2	188343525	188343525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accatcatttgttccttcttTtgtaactgtggatcacaaaa	5	9	3	0			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:188343525T>C	ENST00000409676.1	-	8	898	c.634A>G	c.(634-636)Aaa>Gaa	p.K212E	TFPI_ENST00000339091.4_Missense_Mutation_p.K212E|TFPI_ENST00000233156.3_Intron|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Intron|AC007319.1_ENST00000412276.1_RNA			P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	0					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)	GTTCCTTCTTTTGTAACTGTG	0.378													20	190					0	0	0.639603	0	0	C	188343525	T	C	188343525	3	2	12	1	0	0	0	0	1	0	0	0	15868	1850	64	3	420	3	TFPI	2	188343525	Missense_Mutation	SNP	T	TCGA-FZ-5926-01A-11D-1609-08	8774253	188343525	54855848	12	1041											
ULK4	54986	broad.mit.edu	37	chr3	41504591	41504591	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctctacctgcaaagccagcCgtacaataccggaggtatag	9	13	1	0			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:41504591C>A	ENST00000301831.4	-	33	3842	c.3380G>T	c.(3379-3381)cGg>cTg	p.R1127L		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1127							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)		CAAAGCCAGCCGTACAATACC	0.443													33	347					6.00712e-18	6.90007e-18	0.760397	1	0	A	41504591	C	A	41504591	3	1	12	1	0	0	0	0	1	0	0	0	17038	652	23	4	467	4	ULK4	3	41504591	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08		41504591	156517839	13	1042											
KALRN	8997	broad.mit.edu	37	chr3	124103747	124103747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagagcagttggctcagaCgggggaatgtgaccccgagg	17	9	1	3			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:124103747C>T	ENST00000360013.3	+	11	1947	c.1820C>T	c.(1819-1821)aCg>aTg	p.T607M	KALRN_ENST00000460856.1_Missense_Mutation_p.T607M|KALRN_ENST00000240874.3_Missense_Mutation_p.T607M	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	607					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						TTGGCTCAGACGGGGGAATGT	0.577													12	384					0	0	0.38729	0	0	T	124103747	C	T	124103747	3	4	12	1	0	0	0	0	1	0	0	0	8019	536	19	1	1862	1	KALRN	3	124103747	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	82599156	124103747	73918683	14	1043											
EPHA5	2044	broad.mit.edu	37	chr4	66197831	66197831	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctagtgggctatgttctgcCaataaattagatactctaaa	7	8	2	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr4:66197831C>A	ENST00000273854.3	-	17	3468	c.2868G>T	c.(2866-2868)ttG>ttT	p.L956F	EPHA5_ENST00000432638.2_Missense_Mutation_p.L793F|EPHA5_ENST00000511294.1_Missense_Mutation_p.L957F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L934F	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	956					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						TATGTTCTGCCAATAAATTAG	0.323										TSP Lung(17;0.13)			7	155					0.00198382	0.00200744	0.248553	1	0	A	66197831	C	A	66197831	3	1	12	1	0	0	0	0	1	0	0	0	5198	593	21	2	253	2	EPHA5	4	66197831	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08		66197831	124956445	15	1044											
SCLT1	132320	broad.mit.edu	37	chr4	129864162	129864163	+	Frame_Shift_Ins	INS	-	-	T													gaaaatacctttactttggcINSttttttttgagcctccaggg							TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr4:129864162_129864163insT	ENST00000281142.5	-	17	2123_2124	c.1620_1621insA	c.(1618-1623)aaccaafs	p.NQ540fs	SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	540						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTTACTTTGGCTTTTTTTTGAG	0.356													7	649	---	---	---	---						T	129864163	-	T	129864162	7	5	12	1	0	1	1	0	0	0	0	0	13960	797	28	0	465	0	SCLT1	4	129864162	Frame_Shift_Ins	INS	-	TCGA-FZ-5926-01A-11D-1609-08	63666331	129864162	61290114	16	1045											
NR2F1	7025	broad.mit.edu	37	chr5	92923762	92923762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgagccctaccccacgtcGcgctacggcagccagtgcat	11	18	0	0			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr5:92923762G>A	ENST00000327111.3	+	2	2290	c.603G>A	c.(601-603)tcG>tcA	p.S201S		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	201					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)		ACCCCACGTCGCGCTACGGCA	0.667													14	393					0	0	0.520397	0	0	A	92923762	G	A	92923762	2	1	12	1	0	0	0	0	0	0	0	1	10675	1074	38	1		1	NR2F1	5	92923762	Silent	SNP	G	TCGA-FZ-5926-01A-11D-1609-08		92923762	87991498	17	1046											
TRIM40	135644	broad.mit.edu	37	chr6	30104878	30104878	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctgccaggagagcctgaAggaggccgtgagcaccaact	13	12	1	3			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr6:30104878A>G	ENST00000396581.1	+	2	451	c.65A>G	c.(64-66)aAg>aGg	p.K22R	TRIM40_ENST00000307859.4_Missense_Mutation_p.K22R|TRIM40_ENST00000376724.2_Missense_Mutation_p.K22R|TRIM40_ENST00000489892.1_3'UTR			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	22						intracellular	zinc ion binding			ovary(1)	1						GAGAGCCTGAAGGAGGCCGTG	0.602													8	290					0	0	0.27861	0	0	G	30104878	A	G	30104878	3	3	12	1	0	0	0	0	1	0	0	0	16576	72	3	3	67	3	TRIM40	6	30104878	Missense_Mutation	SNP	A	TCGA-FZ-5926-01A-11D-1609-08		30104878	141010189	18	1047											
QKI	9444	broad.mit.edu	37	chr6	163987788	163987788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttcgaaggcacgatatgCgtgtccatccttaccaaagg	10	10	0	0			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr6:163987788C>T	ENST00000361752.3	+	7	1521	c.970C>T	c.(970-972)Cgt>Tgt	p.R324C	QKI_ENST00000361195.2_Missense_Mutation_p.R316C|QKI_ENST00000392127.2_3'UTR|QKI_ENST00000453779.2_3'UTR|QKI_ENST00000275262.7_3'UTR	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	324					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			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)		GCACGATATGCGTGTCCATCC	0.413													10	156					0	0	0.361761	0	0	T	163987788	C	T	163987788	3	4	12	1	0	0	0	0	1	0	0	0	12925	768	27	1	1100	1	QKI	6	163987788	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	133882910	163987788	7127279	19	1048											
CPA2	1358	broad.mit.edu	37	chr7	129909574	129909574	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccgagttcccttcgtcaaCgtccaggcagtcaaagtgtt	10	12	2	0			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr7:129909574C>T	ENST00000222481.4	+	3	274	c.219C>T	c.(217-219)aaC>aaT	p.N73N		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	73					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)					CCTTCGTCAACGTCCAGGCAG	0.502													20	351					0	0	0.557998	0	0	T	129909574	C	T	129909574	2	4	12	1	0	0	0	0	0	0	0	1	3813	535	19	1		1	CPA2	7	129909574	Silent	SNP	C	TCGA-FZ-5926-01A-11D-1609-08		129909574	29229089	20	1049											
XKR5	389610	broad.mit.edu	37	chr8	6673495	6673496	+	RNA	INS	-	-	C													aggtgcacactgcctagggaINScccccgtcccgtgagtctgc					rs67140828		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:6673495_6673496insC	ENST00000518724.1	-	0	958							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)		CTGCCTAGGGACCCCCGTCCCG	0.634											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	13	---	---	---	---						C	6673496	-	C	6673495	6	5	12	0	1	1	1	0	0	0	0	0	17494	290	10	0		0	XKR5	8	6673495	RNA	INS	-	TCGA-FZ-5926-01A-11D-1609-08		6673495	139690527	21	1050											
MCM4	4173	broad.mit.edu	37	chr8	48887486	48887486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagtctgcaactgatcccCggactggcatcgtggacata	11	12	1	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:48887486C>T	ENST00000262105.2	+	14	2538	c.2329C>T	c.(2329-2331)Cgg>Tgg	p.R777W	MCM4_ENST00000523944.1_Missense_Mutation_p.R777W	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	777					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			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AACTGATCCCCGGACTGGCAT	0.408													14	404					0	0	0.435327	0	0	T	48887486	C	T	48887486	3	4	12	1	0	0	0	0	1	0	0	0	9439	643	23	1	2383	1	MCM4	8	48887486	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	42213991	48887486	97476536	22	1051											
SULF1	23213	broad.mit.edu	37	chr8	70512900	70512900	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattatgcagtacacaggacCaatgctgcccatccacatgg	9	12	0	0			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:70512900C>A	ENST00000260128.4	+	9	1514	c.797C>A	c.(796-798)cCa>cAa	p.P266Q	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.P266Q|SULF1_ENST00000402687.4_Missense_Mutation_p.P266Q|SULF1_ENST00000419716.3_Missense_Mutation_p.P266Q	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	266					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)			TACACAGGACCAATGCTGCCC	0.393													18	533					5.35267e-07	5.83303e-07	0.557998	1	0	A	70512900	C	A	70512900	3	1	12	1	0	0	0	0	1	0	0	0	15426	594	21	2	815	2	SULF1	8	70512900	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	21625414	70512900	75851122	23	1052											
COL5A1	1289	broad.mit.edu	37	chr9	137593108	137593108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaaattcctcgaccgcagcGaccaccccatgatcgacatc	6	18	0	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr9:137593108G>A	ENST00000371817.3	+	4	997	c.583G>A	c.(583-585)Gac>Aac	p.D195N	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	195	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)		CGACCGCAGCGACCACCCCAT	0.527													9	135					0	0	0.335167	0	0	A	137593108	G	A	137593108	3	1	12	1	0	0	0	0	1	0	0	0	3719	1058	37	1	597	1	COL5A1	9	137593108	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08		137593108	3620323	24	1053											
NLRP10	338322	broad.mit.edu	37	chr11	7981305	7981305	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtccatggacagaaggAcatttttgctcctccttagg	9	10	1	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:7981305A>T	ENST00000328600.2	-	2	2015	c.1854T>A	c.(1852-1854)tgT>tgA	p.C618*		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	618							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)		GGACAGAAGGACATTTTTGCT	0.398													14	333					0	0	0.435327	0	0	T	7981305	A	T	7981305	4	4	12	1	0	0	0	0	0	1	0	0	10519	273	10	5	117	5	NLRP10	11	7981305	Nonsense_Mutation	SNP	A	TCGA-FZ-5926-01A-11D-1609-08		7981305	127025211	25	1054											
ST5	6764	broad.mit.edu	37	chr11	8724252	8724252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccttgagtccatgggccGccgcagctctaacacctgca	10	16	1	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:8724252G>A	ENST00000534127.1	-	17	2972	c.2587C>T	c.(2587-2589)Cgg>Tgg	p.R863W	ST5_ENST00000526757.1_Missense_Mutation_p.R443W|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.R335W|ST5_ENST00000530438.1_Missense_Mutation_p.R443W|ST5_ENST00000357665.1_Missense_Mutation_p.R863W|ST5_ENST00000313726.6_Missense_Mutation_p.R863W|ST5_ENST00000534278.1_Missense_Mutation_p.R54W|ST5_ENST00000526099.1_Missense_Mutation_p.R376W	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	863	DENN.				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)		TCCATGGGCCGCCGCAGCTCT	0.612													13	288					0	0	0.435327	0	0	A	8724252	G	A	8724252	3	1	12	1	0	0	0	0	1	0	0	0	15276	1086	38	1	854	1	ST5	11	8724252	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	742947	8724252	126282264	26	1055											
ANO3	63982	broad.mit.edu	37	chr11	26619970	26619970	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atactgacctatacttgggaCcttatcgaatgggaagaaga	10	7	0	3	rs141900098		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:26619970C>A	ENST00000256737.3	+	15	2358	c.1506C>A	c.(1504-1506)gaC>gaA	p.D502E	ANO3_ENST00000537978.1_Missense_Mutation_p.D486E|ANO3_ENST00000531568.1_Missense_Mutation_p.D356E|ANO3_ENST00000525139.1_Missense_Mutation_p.D486E	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	502						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						ATACTTGGGACCTTATCGAAT	0.388													22	415					4.26978e-12	4.77541e-12	0.654019	1	0	A	26619970	C	A	26619970	3	1	12	1	0	0	0	0	1	0	0	0	692	506	18	2	1564	2	ANO3	11	26619970	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	17895718	26619970	108386546	27	1056											
FAT3	120114	broad.mit.edu	37	chr11	92616466	92616466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccggcggggcgtggtcGtgtgcagtgtggcccccaac	17	14	0	0			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:92616466G>A	ENST00000298047.6	+	23	12861	c.12844G>A	c.(12844-12846)Gtg>Atg	p.V4282M	FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Missense_Mutation_p.V4282M|FAT3_ENST00000533797.1_Missense_Mutation_p.V617M|FAT3_ENST00000525166.1_Missense_Mutation_p.V4132M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4282					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)				GGGCGTGGTCGTGTGCAGTGT	0.657										TCGA Ovarian(4;0.039)			19	333					0	0	0.557998	0	0	A	92616466	G	A	92616466	3	1	12	1	0	0	0	0	1	0	0	0	5724	1145	40	1	12934	1	FAT3	11	92616466	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	65996496	92616466	42390050	28	1057											
CNTN5	53942	broad.mit.edu	37	chr11	100141958	100141958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccccatctcgaatgatcCgcacaaatgaagcaggtaaa	8	12	1	2			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:100141958C>T	ENST00000524871.1	+	18	2589	c.2299C>T	c.(2299-2301)Cgc>Tgc	p.R767C	CNTN5_ENST00000528682.1_Missense_Mutation_p.R767C|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.R767C|CNTN5_ENST00000418526.2_Missense_Mutation_p.R693C|CNTN5_ENST00000279463.3_Missense_Mutation_p.R767C	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	767					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)		TCGAATGATCCGCACAAATGA	0.443													4	137					0	0	0.150653	0	0	T	100141958	C	T	100141958	3	4	12	1	0	0	0	0	1	0	0	0	3667	652	23	1	2361	1	CNTN5	11	100141958	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	7525492	100141958	34864558	29	1058											
C11orf63	79864	broad.mit.edu	37	chr11	122805736	122805736	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accaaaaataagaaacaactCaaacagccttatacagagac	4	10	1	2			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:122805736C>T	ENST00000227349.2	+	5	1884	c.1587C>T	c.(1585-1587)ctC>ctT	p.L529L	C11orf63_ENST00000531316.1_Silent_p.L529L	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	529										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)		AGAAACAACTCAAACAGCCTT	0.368													33	324					0	0	0.769981	0	0	T	122805736	C	T	122805736	2	4	12	1	0	0	0	0	0	0	0	1	1659	813	29	2		2	C11orf63	11	122805736	Silent	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	22663778	122805736	12200780	30	1059											
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-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	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)			12	125					0	0	0.457914	0	0	T	25398284	C	T	25398284	3	4	12	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08		25398284	108453611	31	1060											
ADAMTS20	80070	broad.mit.edu	37	chr12	43771274	43771274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcttgataaactataggcCgaagtcgatggagcttatgt	10	6	1	1	rs112430320		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:43771274C>T	ENST00000389420.3	-	32	4888	c.4889G>A	c.(4888-4890)cGg>cAg	p.R1630Q		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1630	TSP type-1 14.					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)		AACTATAGGCCGAAGTCGATG	0.413													7	162					0	0	0.307466	0	0	T	43771274	C	T	43771274	3	4	12	1	0	0	0	0	1	0	0	0	265	652	23	1	874	1	ADAMTS20	12	43771274	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	18372990	43771274	90080621	32	1061											
GLI1	2735	broad.mit.edu	37	chr12	57861870	57861870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacagtgcatggtcctgacGcccatgtgaccaaacggcac	11	13	0	3			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:57861870G>A	ENST00000228682.2	+	10	1262	c.1171G>A	c.(1171-1173)Gcc>Acc	p.A391T	GLI1_ENST00000546141.1_Missense_Mutation_p.A350T|GLI1_ENST00000543426.1_Missense_Mutation_p.A263T	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	391					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)			TGGTCCTGACGCCCATGTGAC	0.572													14	243					0	0	0.500413	0	0	A	57861870	G	A	57861870	3	1	12	1	0	0	0	0	1	0	0	0	6479	1087	38	1	1205	1	GLI1	12	57861870	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	14090596	57861870	75990025	33	1062											
GAS6	2621	broad.mit.edu	37	chr13	114535842	114535842	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgcctcgggagtggccAccccgcctctagctgctgag	13	16	1	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr13:114535842A>C	ENST00000357389.3	-	9	999	c.847T>G	c.(847-849)Tgg>Ggg	p.W283G	GAS6_ENST00000450766.1_Intron|GAS6_ENST00000480426.1_5'UTR|GAS6_ENST00000355761.4_Intron|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000327773.6_Intron|GAS6_ENST00000418959.3_5'UTR			Q14393	GAS6_HUMAN	growth arrest-specific 6	283					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)				GGGAGTGGCCACCCCGCCTCT	0.711													8	21					0	0	0.654019	0	0	C	114535842	A	C	114535842	3	2	12	1	0	0	0	0	1	0	0	0	6289	174	6	3		3	GAS6	13	114535842	Missense_Mutation	SNP	A	TCGA-FZ-5926-01A-11D-1609-08		114535842	634036	34	1063											
RPGRIP1	57096	broad.mit.edu	37	chr14	21792810	21792810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgcttatggcacccgacCgttgtcgttatgtttggaaa	11	8	0	0			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:21792810C>T	ENST00000206660.6	+	14	1796	c.1796C>T	c.(1795-1797)cCg>cTg	p.P599L	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.P599L|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P561L|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.R8C			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	599					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)		GGCACCCGACCGTTGTCGTTA	0.473													15	419					0	0	0.500413	0	0	T	21792810	C	T	21792810	3	4	12	1	0	0	0	0	1	0	0	0	13601	652	23	1	1850	1	RPGRIP1	14	21792810	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08		21792810	85556730	35	1064											
GPR68	0	broad.mit.edu	37	chr14	91700906	91700906	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtgctggttctcgtcctcGatgacctcctcgtgcatcag	11	14	2	1	rs145413696		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:91700906G>A	ENST00000535815.1	-	2	829	c.489C>T	c.(487-489)atC>atT	p.I163I	GPR68_ENST00000531499.2_Silent_p.I163I|GPR68_ENST00000238699.3_Silent_p.I173I	NM_001177676.1	NP_001171147.1	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	163					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		TCTCGTCCTCGATGACCTCCT	0.617													9	138					0	0	0.361761	0	0	A	91700906	G	A	91700906	2	1	12	1	0	0	0	0	0	0	0	1	6747	1048	37	1		1	GPR68	14	91700906	Silent	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	69908096	91700906	15648634	36	1065											
ATG2B	55102	broad.mit.edu	37	chr14	96790267	96790267	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcatctgacgatgttgtatCtccatctactccactagaca	6	12	4	2			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:96790267C>T	ENST00000359933.4	-	16	3399	c.2506G>A	c.(2506-2508)Gat>Aat	p.D836N		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	836										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)		GATGTTGTATCTCCATCTACT	0.348													11	274					0	0	0.411799	0	0	T	96790267	C	T	96790267	3	4	12	1	0	0	0	0	1	0	0	0	1093	913	32	2	3838	2	ATG2B	14	96790267	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	5089361	96790267	10559273	37	1066											
CYP46A1	10858	broad.mit.edu	37	chr14	100182237	100182237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactgggtccagcgccgcCgggaagccctgaagaggggc	19	12	0	2			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:100182237C>T	ENST00000554176.1	+	3	991	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	CYP46A1_ENST00000261835.3_Missense_Mutation_p.R262W|CYP46A1_ENST00000423126.2_Missense_Mutation_p.R165W			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	262					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)				CCAGCGCCGCCGGGAAGCCCT	0.657													9	248					0	0	0.307466	0	0	T	100182237	C	T	100182237	3	4	12	1	0	0	0	0	1	0	0	0	4205	643	23	1	814	1	CYP46A1	14	100182237	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	3391970	100182237	7167303	38	1067											
CPEB1	64506	broad.mit.edu	37	chr15	83226611	83226611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgggccgggtgtccaggcGtgatcctctaactgagggtg	17	9	1	2			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr15:83226611G>A	ENST00000563800.1	-	4	2311	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	CPEB1_ENST00000568128.1_Missense_Mutation_p.R169C|CPEB1_ENST00000564522.1_Missense_Mutation_p.R94C|CPEB1_ENST00000562019.1_Missense_Mutation_p.R169C|CPEB1_ENST00000423133.2_Missense_Mutation_p.R94C|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000450751.2_Missense_Mutation_p.R94C|CPEB1_ENST00000261723.6_Missense_Mutation_p.R172C|CPEB1_ENST00000398591.2_Missense_Mutation_p.R94C|CPEB1_ENST00000568757.1_Missense_Mutation_p.R94C|RP11-379H8.1_ENST00000568285.1_Intron			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	169	Ser-rich.				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)			GTGTCCAGGCGTGATCCTCTA	0.552													12	327					0	0	0.38729	0	0	A	83226611	G	A	83226611	3	1	12	1	0	0	0	0	1	0	0	0	3823	1145	40	1	1231	1	CPEB1	15	83226611	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08		83226611	19304781	39	1068											
SRRM2	23524	broad.mit.edu	37	chr16	2817974	2817974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctctggggcagtggcaaCgaccacgtcctctgctggtg	13	13	2	0			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr16:2817974C>T	ENST00000301740.8	+	11	7994	c.7445C>T	c.(7444-7446)aCg>aTg	p.T2482M	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2482	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						GCAGTGGCAACGACCACGTCC	0.602													12	333					0	0	0.411799	0	0	T	2817974	C	T	2817974	3	4	12	1	0	0	0	0	1	0	0	0	15225	536	19	1	7483	1	SRRM2	16	2817974	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08		2817974	87536779	40	1069											
MEFV	4210	broad.mit.edu	37	chr16	3299561	3299561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggacctgcttcaggtggCgcttacactgtggcaggggc	16	11	1	0	rs144998416		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr16:3299561C>T	ENST00000219596.1	-	3	1169	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	MEFV_ENST00000536379.1_Missense_Mutation_p.R166H|MEFV_ENST00000339854.4_Missense_Mutation_p.R197H|MEFV_ENST00000541159.1_Missense_Mutation_p.R166H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	377					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.R377H(1)|p.R166H(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)	CTTCAGGTGGCGCTTACACTG	0.647													21	244					0	0	0.608945	0	0	T	3299561	C	T	3299561	3	4	12	1	0	0	0	0	1	0	0	0	9509	768	27	1	1247	1	MEFV	16	3299561	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	481587	3299561	87055192	41	1070											
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-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_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)			17	145					0	0	0.500413	0	0	T	7577120	C	T	7577120	3	4	12	1	0	0	0	0	1	0	0	0	16442	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08		7577120	73618090	42	1071											
ALOX15B	247	broad.mit.edu	37	chr17	7942847	7942847	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttccagctgacaccgccGcggggcggccacctcctctt	12	17	1	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:7942847G>A	ENST00000380183.4	+	2	430	c.291G>A	c.(289-291)ccG>ccA	p.P97P	ALOX15B_ENST00000572022.1_Silent_p.P97P|ALOX15B_ENST00000380173.2_Silent_p.P97P|ALOX15B_ENST00000573359.1_Silent_p.P97P	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	97	PLAT.				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						TGACACCGCCGCGGGGCGGCC	0.746													4	29					0	0	0.184627	0	0	A	7942847	G	A	7942847	2	1	12	1	0	0	0	0	0	0	0	1	535	1074	38	1		1	ALOX15B	17	7942847	Silent	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	365727	7942847	73252363	43	1072											
AP2B1	163	broad.mit.edu	37	chr17	33977630	33977630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctgttacagctaaagaaGtagtcttgtctgagaagcca	9	9	2	2			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:33977630G>A	ENST00000262325.7	+	13	2171	c.1618G>A	c.(1618-1620)Gta>Ata	p.V540I	AP2B1_ENST00000592545.1_Missense_Mutation_p.V502I|AP2B1_ENST00000538556.1_Missense_Mutation_p.V483I|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000589344.1_Missense_Mutation_p.V540I|AP2B1_ENST00000537622.2_Missense_Mutation_p.V540I|AP2B1_ENST00000312678.8_Missense_Mutation_p.V540I	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	540					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)		AGCTAAAGAAGTAGTCTTGTC	0.473													47	572					0	0	0.864702	0	0	A	33977630	G	A	33977630	3	1	12	1	0	0	0	0	1	0	0	0	737	1029	36	2	1664	2	AP2B1	17	33977630	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	26034783	33977630	47217580	44	1073											
KRT12	3859	broad.mit.edu	37	chr17	39022893	39022894	+	Frame_Shift_Ins	INS	-	-	AGTG													tattcctgaggtcttcaatcINSagtggataatatttgctgta							TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:39022893_39022894insAGTG	ENST00000251643.4	-	1	568_569	c.545_546insCACT	c.(544-546)catfs	p.H182fs		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	182	Linker 1.|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)				GGTCTTCAATCAGTGGATAATA	0.371													25	853	---	---	---	---						AGTG	39022894	-	AGTG	39022893	7	5	12	1	0	1	1	0	0	0	0	0	8492	813	29	0	970	0	KRT12	17	39022893	Frame_Shift_Ins	INS	-	TCGA-FZ-5926-01A-11D-1609-08	5045263	39022893	42172317	45	1074											
KRT15	3866	broad.mit.edu	37	chr17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgttgatgtcagcctcaaCgccctggcgcagggccagct	13	15	2	1	rs138271368		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393974.3_Missense_Mutation_p.V40I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.V205I(3)		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)				TCAGCCTCAACGCCCTGGCGC	0.612													19	377					0	0	0.575678	0	0	T	39673185	C	T	39673185	3	4	12	1	0	0	0	0	1	0	0	0	8495	536	19	1	781	1	KRT15	17	39673185	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	650292	39673185	41522025	46	1075											
KCNJ2	3759	broad.mit.edu	37	chr17	68172063	68172063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaacgcagactttgaaatcGtggtcatactggaaggcatg	11	8	1	2			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:68172063G>A	ENST00000243457.3	+	2	1266	c.883G>A	c.(883-885)Gtg>Atg	p.V295M	KCNJ2_ENST00000535240.1_Missense_Mutation_p.V295M	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	295					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)					CTTTGAAATCGTGGTCATACT	0.458													13	303					0	0	0.435327	0	0	A	68172063	G	A	68172063	3	1	12	1	0	0	0	0	1	0	0	0	8095	1145	40	1	885	1	KCNJ2	17	68172063	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	28498878	68172063	13023147	47	1076											
RNF213	57674	broad.mit.edu	37	chr17	78321227	78321227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttctcagaaggtgccggGtggagagcaggaagatgctg	17	8	1	3			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:78321227G>A	ENST00000582970.1	+	29	9235	c.9092G>A	c.(9091-9093)gGt>gAt	p.G3031D	RNF213_ENST00000508628.2_Missense_Mutation_p.G3080D|RNF213_ENST00000336301.6_Missense_Mutation_p.G1104D	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)			AAGGTGCCGGGTGGAGAGCAG	0.547													20	243					0	0	0.575678	0	0	A	78321227	G	A	78321227	3	1	12	1	0	0	0	0	1	0	0	0	13529	1261	44	2	9521	2	RNF213	17	78321227	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	10149164	78321227	2873983	48	1077											
PTPRM	5797	broad.mit.edu	37	chr18	7774244	7774244	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgaacaccttgactaaaccGacttctgatccatggatgcc	8	12	1	3	rs145799313		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr18:7774244G>A	ENST00000332175.8	+	2	1208	c.171G>A	c.(169-171)ccG>ccA	p.P57P	PTPRM_ENST00000580170.1_Silent_p.P57P|PTPRM_ENST00000400060.4_Silent_p.P57P|PTPRM_ENST00000400053.4_5'UTR	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	57	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)				TGACTAAACCGACTTCTGATC	0.403													12	444					0	0	0.479597	0	0	A	7774244	G	A	7774244	2	1	12	1	0	0	0	0	0	0	0	1	12858	1045	37	1		1	PTPRM	18	7774244	Silent	SNP	G	TCGA-FZ-5926-01A-11D-1609-08		7774244	70303004	49	1078											
FBN3	84467	broad.mit.edu	37	chr19	8206691	8206691	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgacgcagctgcctccctGgcacaggcctggcacagcct	12	16	0	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:8206691G>A	ENST00000600128.1	-	8	1189	c.775C>T	c.(775-777)Cag>Tag	p.Q259*	FBN3_ENST00000601739.1_Nonsense_Mutation_p.Q259*|FBN3_ENST00000270509.2_Nonsense_Mutation_p.Q259*			Q75N90	FBN3_HUMAN	fibrillin 3	259	EGF-like 2; 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						CTGCCTCcctggcacaggcct	0.622													18	262					0	0	0.592651	0	0	A	8206691	G	A	8206691	4	1	12	1	0	0	0	0	0	1	0	0	5737	1357	47	2	7882	2	FBN3	19	8206691	Nonsense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08		8206691	50922292	50	1079											
EMR2	30817	broad.mit.edu	37	chr19	14854232	14854232	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcaatgcgtgatcttacCgtgctgggtttggaggtgtc	16	7	1	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:14854232C>T	ENST00000315576.3	-	20	2914	c.2463_splice	c.e20+1	p.T821_splice	EMR2_ENST00000353876.1_Splice_Site_p.T728_splice|EMR2_ENST00000346057.1_Splice_Site_p.T772_splice|EMR2_ENST00000353005.1_Splice_Site_p.T679_splice|EMR2_ENST00000596991.2_Splice_Site_p.T810_splice|EMR2_ENST00000595839.1_Splice_Site_p.T679_splice|EMR2_ENST00000392965.3_Splice_Site_p.T763_splice|EMR2_ENST00000594076.1_Splice_Site_p.T728_splice|EMR2_ENST00000594294.1_Splice_Site_p.T772_splice|EMR2_ENST00000601345.1_Splice_Site_p.T810_splice|EMR2_ENST00000392967.2_Splice_Site_p.T810_splice	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	821					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						GTGATCTTACCGTGCTGGGTT	0.507													10	754					0	0	0.411799	0	0	T	14854232	C	T	14854232	5	4	12	1	0	0	0	0	0	0	1	0	5133	666	23	1	16	1	EMR2	19	14854232	Splice_Site	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	6647541	14854232	44274751	51	1080											
PLAUR	5329	broad.mit.edu	37	chr19	44174235	44174237	+	In_Frame_Del	DEL	AGC	AGC	-													tacctgggacgcaggtgtggAgcagcagcagcagcggcagc							TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:44174235_44174237delAGC	ENST00000221264.4	-	1	462_464	c.36_38delGCT	c.(34-39)ctc>ct	p.LL12del	PLAUR_ENST00000340093.3_In_Frame_Del_p.LL12del|PLAUR_ENST00000339082.3_In_Frame_Del_p.LL12del|PLAUR_ENST00000601723.1_In_Frame_Del_p.LL12del	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	12					attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCAGGTGTGGagcagcagcagca	0.66													7	546	---	---	---	---						-	44174237	AGC	-	44174235	7	5	12	1	0	1	0	1	0	0	0	0	12071	304	11	0	1093	0	PLAUR	19	44174235	In_Frame_Del	DEL	AGC	TCGA-FZ-5926-01A-11D-1609-08	29320003	44174235	14954748	52	1081											
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-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:55106342C>T	ENST00000453777.1	+	4	453	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.R95W|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron	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													16	450					0	0	0.557998	0	0	T	55106342	C	T	55106342	3	4	12	1	0	0	0	0	1	0	0	0	8824	759	27	1	293	1	LILRA1	19	55106342	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	10932107	55106342	4022641	53	1082											
NKX2-2	4821	broad.mit.edu	37	chr20	21492919	21492919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtgttcgcgctcgggcGccgacaggtaccgctgctgc	15	15	0	0			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:21492919G>A	ENST00000377142.4	-	2	820	c.464C>T	c.(463-465)gCg>gTg	p.A155V	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	155					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						GCGCTCGGGCGCCGACAGGTA	0.672													5	131					0	0	0.184627	0	0	A	21492919	G	A	21492919	3	1	12	1	0	0	0	0	1	0	0	0	10497	1087	38	1	361	1	NKX2-2	20	21492919	Missense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08		21492919	41532601	54	1083											
REM1	28954	broad.mit.edu	37	chr20	30064350	30064350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagcctggccgcctgagCacagtgccttccactcaatc	8	18	1	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:30064350C>T	ENST00000201979.2	+	2	395	c.102C>T	c.(100-102)agC>agT	p.S34S	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	34					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	p.S34R(2)		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)			GCCGCCTGAGCACAGTGCCTT	0.642													40	375					0	0	0.804634	0	0	T	30064350	C	T	30064350	2	4	12	1	0	0	0	0	0	0	0	1	13274	709	25	2		2	REM1	20	30064350	Silent	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	8571431	30064350	32961170	55	1084											
NCOA6	23054	broad.mit.edu	37	chr20	33324554	33324554	+	Nonsense_Mutation	SNP	G	G	A													ttcctttgagactaaattctGcgacggggctaaggcaagga							TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:33324554G>A	ENST00000374796.2	-	13	8472	c.5902C>T	c.(5902-5904)Cag>Tag	p.Q1968*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q1968*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1968	EP300/CRSP3-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						ACTAAATTCTGCGACGGGGCT	0.423													20	182					0	0	0.575678	0	0	A	33324554	G	A	33324554	4	1	12	1	0	0	0	0	0	1	0	0	10280	1328	46	2	305	2	NCOA6	20	33324554	Nonsense_Mutation	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	3260204	33324554	29700966	56	1085	11	2									
NCOA6	23054	broad.mit.edu	37	chr20	33324555	33324555	+	Silent	SNP	C	C	A													tcctttgagactaaattctgCgacggggctaaggcaaggaa							TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:33324555C>A	ENST00000374796.2	-	13	8471	c.5901G>T	c.(5899-5901)tcG>tcT	p.S1967S	NCOA6_ENST00000359003.2_Silent_p.S1967S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1967	EP300/CRSP3-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						CTAAATTCTGCGACGGGGCTA	0.418													19	181					3.99206e-14	4.52433e-14	0.557998	1	0	A	33324555	C	A	33324555	2	1	12	1	0	0	0	0	0	0	0	1	10280	755	27	4		4	NCOA6	20	33324555	Silent	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	1	33324555	29700965	57	1086	11	2									
SGK2	10110	broad.mit.edu	37	chr20	42198157	42198157	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actatgtcaacgggggagagGtgggtgggcccacagggagg	20	7	1	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:42198157G>T	ENST00000373100.1	+	7	820		c.e7+1		SGK2_ENST00000423407.3_Splice_Site|SGK2_ENST00000373077.1_Splice_Site|SGK2_ENST00000373092.3_Splice_Site|SGK2_ENST00000341458.4_Splice_Site|SGK2_ENST00000426287.1_Splice_Site|SGK2_ENST00000485914.1_Splice_Site			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2						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)			CGGGGGAGAGGTGGGTGGGCC	0.607													19	287					3.83957e-06	4.13118e-06	0.639603	1	0	T	42198157	G	T	42198157	5	4	12	1	0	0	0	0	0	0	1	0	14263	1275	44	2	559	2	SGK2	20	42198157	Splice_Site	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	8873602	42198157	20827363	58	1087											
MMP9	4318	broad.mit.edu	37	chr20	44641961	44641961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccacggctcccccgacGgtctgccccaccggaccccc	9	24	1	0			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:44641961G>A	ENST00000372330.3	+	9	1417	c.1398G>A	c.(1396-1398)acG>acA	p.T466T		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	466					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)	CTCCCCCGACGGTCTGCCCCA	0.687											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	463					0	0	0.870114	0	0	A	44641961	G	A	44641961	2	1	12	1	0	0	0	0	0	0	0	1	9718	1103	39	1		1	MMP9	20	44641961	Silent	SNP	G	TCGA-FZ-5926-01A-11D-1609-08	2443804	44641961	18383559	59	1088											
KDM6A	7403	broad.mit.edu	37	chrX	44936003	44936003	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggataaatgtccacctccaAgaccaccatcttcaccatac	4	15	2	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrX:44936003A>T	ENST00000377967.4	+	18	2805	c.2764A>T	c.(2764-2766)Aga>Tga	p.R922*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.R929*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.R877*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.R843*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	922					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						TCCACCTCCAAGACCACCATC	0.373			"D, N, F, S"		"renal, oesophageal SCC, MM"								21	445					0	0	0.608945	0	0	T	44936003	A	T	44936003	4	4	12	1	0	0	0	0	0	1	0	0	8180	64	3	5	2834	5	KDM6A	23	44936003	Nonsense_Mutation	SNP	A	TCGA-FZ-5926-01A-11D-1609-08		44936003	110334557	60	1089											
UBA1	7317	broad.mit.edu	37	chrX	47058941	47058941	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatcacagccccgcctcgcTgagctcaacagctatgtgcc	9	16	2	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrX:47058941T>C	ENST00000335972.6	+	5	591	c.408T>C	c.(406-408)gcT>gcC	p.A136A	UBA1_ENST00000377351.4_Silent_p.A136A	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	136	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						CCCGCCTCGCTGAGCTCAACA	0.547													18	525					0	0	0.520397	0	0	C	47058941	T	C	47058941	2	2	12	1	0	0	0	0	0	0	0	1	16888	1567	55	3		3	UBA1	23	47058941	Silent	SNP	T	TCGA-FZ-5926-01A-11D-1609-08	2122938	47058941	108211619	61	1090											
FAM155B	27112	broad.mit.edu	37	chrX	68725671	68725672	+	Frame_Shift_Ins	INS	-	-	A													cggccgagttcccctccgccINSaaaaaaaacttgctcaaagg							TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrX:68725671_68725672insA	ENST00000252338.4	+	1	588_589	c.546_547insA	c.(544-549)gcaaaafs	p.AK182fs		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	182						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						TCCCCTCCGCCAAAAAAAACTT	0.589													8	342	---	---	---	---						A	68725672	-	A	68725671	7	5	12	1	0	1	1	0	0	0	0	0	5496	581	21	0	548	0	FAM155B	23	68725671	Frame_Shift_Ins	INS	-	TCGA-FZ-5926-01A-11D-1609-08	21666730	68725671	86544889	62	1091											
NONO	4841	broad.mit.edu	37	chrX	70519912	70519912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatttgccccaaacaaaCgtcgccgatactaataagtt	6	11	0	1			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrX:70519912C>T	ENST00000535149.1	+	10	1778	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	NONO_ENST00000373841.1_Missense_Mutation_p.R468C|NONO_ENST00000373856.3_Missense_Mutation_p.R468C|NONO_ENST00000276079.8_Missense_Mutation_p.R468C|NONO_ENST00000490044.1_3'UTR	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	468					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)					CCCAAACAAACGTCGCCGATA	0.468			T	TFE3	papillary renal cancer								30	480					0	0	0.769981	0	0	T	70519912	C	T	70519912	3	4	12	1	0	0	0	0	1	0	0	0	10581	536	19	1	1440	1	NONO	23	70519912	Missense_Mutation	SNP	C	TCGA-FZ-5926-01A-11D-1609-08	1794241	70519912	84750648	63	1092											
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-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	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													5	208					0	0	1	0	0	T	6313858	C	T	6313858	3	4	13	1	0	0	0	0	1	0	0	0	6699	768	27	1	1139	1	GPR153	1	6313858	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08		6313858	242936763	1	1093											
CAMTA1	23261	broad.mit.edu	37	chr1	7811329	7811329	+	Frame_Shift_Del	DEL	A	A	-													attccgaagttactatgaacAaaaaaaattccagcagagcc							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:7811329delA	ENST00000303635.7	+	20	4967	c.4760delA	c.(4759-4761)cafs	p.Q1587fs	CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.Q1573fs|CAMTA1_ENST00000476864.1_Frame_Shift_Del_p.Q151fs	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1587	IQ 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.K1589fs*33(1)		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)		TACTATGAACAAAAAAAATTC	0.473			T	WWTR1	epitheliod hemangioendothelioma								7	883	---	---	---	---						-	7811329	A	-	7811329	7	5	13	1	0	1	0	1	0	0	0	0	2631	130	5	0	4838	0	CAMTA1	1	7811329	Frame_Shift_Del	DEL	A	TCGA-H8-A6C1-01A-11D-A32N-08	1497471	7811329	241439292	2	1094											
HSPB7	27129	broad.mit.edu	37	chr1	16343648	16343648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtctctcacgtccaccGcaaactcataggcgtctcct	7	15	4	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:16343648G>A	ENST00000311890.9	-	2	1080	c.254C>T	c.(253-255)gCg>gTg	p.A85V	HSPB7_ENST00000411503.1_Missense_Mutation_p.A85V|HSPB7_ENST00000406363.2_Missense_Mutation_p.A89V|HSPB7_ENST00000375718.4_Missense_Mutation_p.A160V|HSPB7_ENST00000487046.1_Missense_Mutation_p.A90V	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	85					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		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;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CACGTCCACCGCAAACTCATA	0.607													5	608					0	0	1	0	0	A	16343648	G	A	16343648	3	1	13	1	0	0	0	0	1	0	0	0	7466	1087	38	1	266	1	HSPB7	1	16343648	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	8532319	16343648	232906973	3	1095											
MYOM3	127294	broad.mit.edu	37	chr1	24418739	24418739	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagtcaggatgaggcagtctCtgttcacatccaggcatcgg	12	10	3	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:24418739C>T	ENST00000330966.7	-	11	1322	c.1160G>A	c.(1159-1161)aGa>aAa	p.R387K	MYOM3_ENST00000329601.7_Missense_Mutation_p.R386K|MYOM3_ENST00000374434.3_Missense_Mutation_p.R386K|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	386	Fibronectin type-III 1.									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)		GAGGCAGTCTCTGTTCACATC	0.647													7	432					0	0	1	0	0	T	24418739	C	T	24418739	3	4	13	1	0	0	0	0	1	0	0	0	10141	913	32	2	3264	2	MYOM3	1	24418739	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	8075091	24418739	224831882	4	1096											
C1orf168	199920	broad.mit.edu	37	chr1	57224419	57224419	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaattccaacttcataAgttgctaaagtaaacataaa	3	8	3	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:57224419A>C	ENST00000343433.6	-	6	1148	c.1068T>G	c.(1066-1068)acT>acG	p.T356T	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	356										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CAACTTCATAAGTTGCTAAAG	0.318													19	71					0	0	1	0	0	C	57224419	A	C	57224419	2	2	13	1	0	0	0	0	0	0	0	1	2025	59	3	3		3	C1orf168	1	57224419	Silent	SNP	A	TCGA-H8-A6C1-01A-11D-A32N-08	32805680	57224419	192026202	5	1097											
ELTD1	64123	broad.mit.edu	37	chr1	79387436	79387436	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggtatcaggtgagtaattCcaaaatgcacatagactcct	8	8	1	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:79387436C>T	ENST00000370742.3	-	9	1182	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	373	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)		GTGAGTAATTCCAAAATGCAC	0.398													35	196					0	0	1	0	0	T	79387436	C	T	79387436	4	4	13	1	0	0	0	0	0	1	0	0	5112	856	30	2	981	2	ELTD1	1	79387436	Nonsense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	22163017	79387436	169863185	6	1098											
LPHN2	23266	broad.mit.edu	37	chr1	82408793	82408793	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccctggactccctatcgtAccgatactttaatagaatat	6	11	0	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:82408793A>G	ENST00000370728.1	+	8	1183	c.538A>G	c.(538-540)Acc>Gcc	p.T180A	LPHN2_ENST00000370725.1_Missense_Mutation_p.T180A|LPHN2_ENST00000359929.3_Missense_Mutation_p.T180A|LPHN2_ENST00000370730.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370723.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370727.1_Missense_Mutation_p.T180A|LPHN2_ENST00000394879.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370715.1_Missense_Mutation_p.T180A|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.T180A|LPHN2_ENST00000271029.4_Missense_Mutation_p.T180A|LPHN2_ENST00000370721.1_Missense_Mutation_p.T184A|LPHN2_ENST00000370713.1_Missense_Mutation_p.T180A|LPHN2_ENST00000335786.5_Missense_Mutation_p.T180A|LPHN2_ENST00000319517.6_Missense_Mutation_p.T180A			O95490	LPHN2_HUMAN	latrophilin 2	180	Olfactomedin-like.				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)		TCCCTATCGTACCGATACTTT	0.393													50	175					0	0	1	0	0	G	82408793	A	G	82408793	3	3	13	1	0	0	0	0	1	0	0	0	8961	391	14	3	552	3	LPHN2	1	82408793	Missense_Mutation	SNP	A	TCGA-H8-A6C1-01A-11D-A32N-08	3021357	82408793	166841828	7	1099											
ABCA4	24	broad.mit.edu	37	chr1	94502769	94502769	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agccagcgtctcctccagctCtctgaaaaggctggcatatg	10	13	2	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:94502769C>A	ENST00000370225.3	-	25	3831	c.3745G>T	c.(3745-3747)Gag>Tag	p.E1249*		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1249					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)		TCCTCCAGCTCTCTGAAAAGG	0.473													8	355					3.09899e-07	3.32211e-07	1	1	0	A	94502769	C	A	94502769	4	1	13	1	0	0	0	0	0	1	0	0	34	922	32	2	3180	2	ABCA4	1	94502769	Nonsense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	12093976	94502769	154747852	8	1100											
SV2A	0	broad.mit.edu	37	chr1	149885316	149885316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcaccaccttcttggccGcatgctttttgacttcctta	5	15	2	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:149885316G>A	ENST00000369146.3	-	2	567	c.77C>T	c.(76-78)gCg>gTg	p.A26V	SV2A_ENST00000369145.1_Missense_Mutation_p.A26V	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	26	Interaction with SYT1 (By similarity).				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)	CTTCTTGGCCGCATGCTTTTT	0.547													5	475					0	0	1	0	0	A	149885316	G	A	149885316	3	1	13	1	0	0	0	0	1	0	0	0	15473	1087	38	1	2199	1	SV2A	1	149885316	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	55382547	149885316	99365305	9	1101											
SNX27	81609	broad.mit.edu	37	chr1	151611351	151611351	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgggattgtctttttcccTttttccccttaggaaccacg	7	11	1	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:151611351T>C	ENST00000368838.1	+	1	20	c.20T>C	c.(19-21)cTt>cCt	p.L7P	SNX27_ENST00000368843.3_Intron|SNX27_ENST00000458013.2_Intron			Q96L92	SNX27_HUMAN	sorting nexin family member 27	0					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)			TCTTTTTCCCTTTTTCCCCTT	0.493													5	175					0	0	1	0	0	C	151611351	T	C	151611351	3	2	13	1	0	0	0	0	1	0	0	0	14951	1624	56	3		3	SNX27	1	151611351	Missense_Mutation	SNP	T	TCGA-H8-A6C1-01A-11D-A32N-08	1726035	151611351	97639270	10	1102											
DENND4B	9909	broad.mit.edu	37	chr1	153916630	153916630	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactgagttccaaggggtggCccccagcagaagcctggatg	14	12	0	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:153916630C>A	ENST00000361217.4	-	2	639	c.221G>T	c.(220-222)gGc>gTc	p.G74V		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	74	MABP.									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)			CAAGGGGTGGCCCCCAGCAGA	0.642													5	131					3.59834e-05	3.8268e-05	1	1	0	A	153916630	C	A	153916630	3	1	13	1	0	0	0	0	1	0	0	0	4462	739	26	2	4377	2	DENND4B	1	153916630	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	2305279	153916630	95333991	11	1103											
RIT1	6016	broad.mit.edu	37	chr1	155870237	155870237	+	Frame_Shift_Del	DEL	T	T	-													ttagcctcttccatacactgTttttgggcttagattttttc							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:155870237delT	ENST00000368323.3	-	6	806	c.602delA	c.(601-603)acfs	p.N201fs	RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Frame_Shift_Del_p.N218fs|RIT1_ENST00000539040.1_Frame_Shift_Del_p.N165fs	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	201					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)			CCATACACTGTTTTTGGGCTT	0.413													7	1430	---	---	---	---						-	155870237	T	-	155870237	7	5	13	1	0	1	0	1	0	0	0	0	13438	1725	60	0	61	0	RIT1	1	155870237	Frame_Shift_Del	DEL	T	TCGA-H8-A6C1-01A-11D-A32N-08	1953607	155870237	93380384	12	1104											
CD1D	912	broad.mit.edu	37	chr1	158152778	158152778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatgggtgaagtggatgCggggtgagcaggagcagcag	20	5	0	2	rs139209490	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:158152778C>T	ENST00000368171.3	+	5	1217	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	240	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)					GAAGTGGATGCGGGGTGAGCA	0.632													6	565					0	0	1	0	0	T	158152778	C	T	158152778	3	4	13	1	0	0	0	0	1	0	0	0	2999	759	27	1	732	1	CD1D	1	158152778	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	2282541	158152778	91097843	13	1105											
DCAF8	50717	broad.mit.edu	37	chr1	160201178	160201178	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccccactttcttctctttctCttttgtcaccaccagtttcc	2	17	4	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:160201178C>A	ENST00000368073.3	-	7	1413	c.979G>T	c.(979-981)Gag>Tag	p.E327*	DCAF8_ENST00000326837.2_Nonsense_Mutation_p.E327*|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000556710.1_Nonsense_Mutation_p.E481*|DCAF8_ENST00000368074.1_Nonsense_Mutation_p.E327*			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	327						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						TTCTCTTTCTCTTTTGTCACC	0.433													5	428					0.0215528	0.0217148	1	1	0	A	160201178	C	A	160201178	4	1	13	1	0	0	0	0	0	1	0	0	4300	922	32	2	846	2	DCAF8	1	160201178	Nonsense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	2048400	160201178	89049443	14	1106											
FCRLB	127943	broad.mit.edu	37	chr1	161696656	161696656	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agccgcgcggtgcgccgcttCgactggggcgccgagtacac	16	15	0	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:161696656C>A	ENST00000367946.3	+	5	607	c.593C>A	c.(592-594)tCg>tAg	p.S198*	FCRLB_ENST00000392158.1_Missense_Mutation_p.F246L|FCRLB_ENST00000367944.3_Silent_p.R205R|FCRLB_ENST00000367945.1_Nonsense_Mutation_p.S191*|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367948.2_Missense_Mutation_p.F246L|FCRLB_ENST00000336830.5_Silent_p.R212R			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	309						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)			TGCGCCGCTTCGACTGGGGCG	0.687													11	48					0.000673444	0.000694165	1	1	0	A	161696656	C	A	161696656	4	1	13	1	0	0	0	0	0	1	0	0	5834	883	31	4	756	4	FCRLB	1	161696656	Nonsense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	1495478	161696656	87553965	15	1107											
GPR25	2848	broad.mit.edu	37	chr1	200842776	200842778	+	In_Frame_Del	DEL	TGC	TGC	-													cgccttccagggcctcagctTgctgctgctgctgctgacct							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:200842776_200842778delTGC	ENST00000304244.2	+	1	694_696	c.611_613delTGC	c.(610-615)ttg>t	p.LL208del		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	208	Poly-Leu.					integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGCCTCAGCTTGCTGCTGCTGCT	0.724													11	175	---	---	---	---						-	200842778	TGC	-	200842776	7	5	13	1	0	1	0	1	0	0	0	0	6723	1821	63	0	613	0	GPR25	1	200842776	In_Frame_Del	DEL	TGC	TCGA-H8-A6C1-01A-11D-A32N-08	39146120	200842776	48407845	16	1108											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73315337	73315339	+	In_Frame_Del	DEL	TGG	TGG	-													actcgctccgacttaggcctTggtggtggtggtggaagaga							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:73315337_73315339delTGG	ENST00000258098.6	-	3	1647_1649	c.1407_1409delCCA	c.(1405-1410)caa>ca	p.HQ469del	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	469					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						ACTTAGGCCTTGGTGGTGGTGGT	0.635													7	757	---	---	---	---						-	73315339	TGG	-	73315337	7	5	13	1	0	1	0	1	0	0	0	0	12949	1812	63	0	564	0	RAB11FIP5	2	73315337	In_Frame_Del	DEL	TGG	TCGA-H8-A6C1-01A-11D-A32N-08		73315337	169884036	17	1109											
ANKAR	150709	broad.mit.edu	37	chr2	190560943	190560943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttttccacacatttagccGtaaaacctcaagctcaacaa	4	12	2	0	rs116405601	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:190560943G>A	ENST00000520309.1	+	7	1644	c.1556G>A	c.(1555-1557)cGt>cAt	p.R519H	ANKAR_ENST00000438402.2_Missense_Mutation_p.R519H|ANKAR_ENST00000431575.2_Missense_Mutation_p.R448H|ANKAR_ENST00000281412.6_Missense_Mutation_p.R283H|ANKAR_ENST00000313581.4_Missense_Mutation_p.R519H	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	519						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)			ACATTTAGCCGTAAAACCTCA	0.378													5	337					0	0	1	0	0	A	190560943	G	A	190560943	3	1	13	1	0	0	0	0	1	0	0	0	619	1145	40	1	1578	1	ANKAR	2	190560943	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	117245606	190560943	52638430	18	1110											
ANKRD44	91526	broad.mit.edu	37	chr2	197943383	197943384	+	Frame_Shift_Del	DEL	TG	TG	-													tgcctctgtgatttggggtaTgtgtgtgtgtgtgtgttaga							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:197943383_197943384delTG	ENST00000409153.1	-	16	1875_1876	c.1693_1694delCA	c.(1693-1695)tfs	p.H565fs	ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000450567.1_Intron			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	811							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)			ATTTGGGGTATGTGTGTGTGTG	0.411													11	63	---	---	---	---						-	197943384	TG	-	197943383	7	5	13	1	0	1	0	1	0	0	0	0	666	1479	51	0		0	ANKRD44	2	197943383	Frame_Shift_Del	DEL	TG	TCGA-H8-A6C1-01A-11D-A32N-08	7382440	197943383	45255990	19	1111											
NRP2	8828	broad.mit.edu	37	chr2	206610562	206610562	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggtatacccggagaggtgGtcgccggcggggattgggat	20	8	0	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:206610562G>A	ENST00000360409.3	+	10	2525	c.1734G>A	c.(1732-1734)tgG>tgA	p.W578*	NRP2_ENST00000540841.1_Nonsense_Mutation_p.W578*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.W578*|NRP2_ENST00000357118.4_Nonsense_Mutation_p.W578*|NRP2_ENST00000357785.5_Nonsense_Mutation_p.W578*|NRP2_ENST00000272849.3_Nonsense_Mutation_p.W578*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.W578*	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	578	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						CGGAGAGGTGGTCGCCGGCGG	0.582													49	151					0	0	1	0	0	A	206610562	G	A	206610562	4	1	13	1	0	0	0	0	0	1	0	0	10709	1270	44	2	1799	2	NRP2	2	206610562	Nonsense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	8667179	206610562	36588811	20	1112											
DYTN	391475	broad.mit.edu	37	chr2	207564891	207564891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggaaacagctgcgggtgGcactttccacagggcacaga	13	11	0	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:207564891G>A	ENST00000452335.2	-	6	649	c.533C>T	c.(532-534)gCc>gTc	p.A178V	DYTN_ENST00000477734.1_5'UTR	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	178						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GCTGCGGGTGGCACTTTCCAC	0.498													5	315					0	0	1	0	0	A	207564891	G	A	207564891	3	1	13	1	0	0	0	0	1	0	0	0	4887	1203	42	2	1231	2	DYTN	2	207564891	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	954329	207564891	35634482	21	1113											
SLC4A3	6508	broad.mit.edu	37	chr2	220496799	220496801	+	In_Frame_Del	DEL	GAA	GAA	-													ctggcccccatccttcgcagGaagaagaagaagaaaaagct							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:220496799_220496801delGAA	ENST00000358055.3	+	7	1433_1435	c.921_923delGAA	c.(919-924)agg>ag	p.RK307del	SLC4A3_ENST00000317151.3_In_Frame_Del_p.RK307del|SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del|SLC4A3_ENST00000273063.6_In_Frame_Del_p.RK334del			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	307					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)		TCCTTCGCAGGAAGAAGAAGAAG	0.65													8	336	---	---	---	---						-	220496801	GAA	-	220496799	7	5	13	1	0	1	0	1	0	0	0	0	14710	1165	41	0	1024	0	SLC4A3	2	220496799	In_Frame_Del	DEL	GAA	TCGA-H8-A6C1-01A-11D-A32N-08	12931908	220496799	22702574	22	1114											
SLC6A6	6533	broad.mit.edu	37	chr3	14513784	14513785	+	Frame_Shift_Ins	INS	-	-	T													gcccacattttggtccattcINSttttttttattatgcttctc							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:14513784_14513785insT	ENST00000454876.2	+	10	1497_1498	c.1168_1169insT	c.(1168-1170)tttfs	p.F390fs	SLC6A6_ENST00000360861.3_Frame_Shift_Ins_p.F390fs			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	390					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						TTGGTCCATTCTTTTTTTTATT	0.53													8	353	---	---	---	---						T	14513785	-	T	14513784	7	5	13	1	0	1	1	0	0	0	0	0	14743	913	32	0	1202	0	SLC6A6	3	14513784	Frame_Shift_Ins	INS	-	TCGA-H8-A6C1-01A-11D-A32N-08		14513784	183508646	23	1115											
GLB1	2720	broad.mit.edu	37	chr3	33060032	33060032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttgaggaagtgttgtccGgtacagcacaaacccataat	9	9	1	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:33060032G>A	ENST00000307363.5	-	13	1399	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	GLB1_ENST00000399402.3_Missense_Mutation_p.R389W|GLB1_ENST00000307377.8_Missense_Mutation_p.R288W|GLB1_ENST00000445488.2_Missense_Mutation_p.R467W|GLB1_ENST00000497796.1_5'UTR	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	419					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)				AGTGTTGTCCGGTACAGCACA	0.433													4	226					0	0	1	0	0	A	33060032	G	A	33060032	3	1	13	1	0	0	0	0	1	0	0	0	6469	1115	39	1	794	1	GLB1	3	33060032	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	18546248	33060032	164962398	24	1116											
IFRD2	7866	broad.mit.edu	37	chr3	50329757	50329757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggacccggtgggtgtgggCtccaggccaacgagacgccg	18	12	0	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:50329757C>T	ENST00000336089.4	-	4	446	c.447G>A	c.(445-447)gaG>gaA	p.E149E	IFRD2_ENST00000429673.2_Silent_p.E47E|IFRD2_ENST00000436390.1_5'UTR|IFRD2_ENST00000417626.2_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	47							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)		TGGGTGTGGGCTCCAGGCCAA	0.756													8	26					0	0	1	0	0	T	50329757	C	T	50329757	2	4	13	1	0	0	0	0	0	0	0	1	7598	796	28	2		2	IFRD2	3	50329757	Silent	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	17269725	50329757	147692673	25	1117											
VEPH1	79674	broad.mit.edu	37	chr3	157081226	157081227	+	Frame_Shift_Ins	INS	-	-	T													atgctttcactttgctgaggINStttttttttaagtgcaagta							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:157081226_157081227insT	ENST00000362010.2	-	9	1968_1969	c.1661_1662insA	c.(1660-1662)actfs	p.T554fs	VEPH1_ENST00000392832.2_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000392833.2_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000543418.1_Frame_Shift_Ins_p.T554fs|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	554						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)			CTTTGCTGAGGTTTTTTTTTAA	0.396													10	479	---	---	---	---						T	157081227	-	T	157081226	7	5	13	1	0	1	1	0	0	0	0	0	17214	1252	44	0	863	0	VEPH1	3	157081226	Frame_Shift_Ins	INS	-	TCGA-H8-A6C1-01A-11D-A32N-08	106751469	157081226	40941204	26	1118											
CPN2	1370	broad.mit.edu	37	chr3	194062235	194062235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtaggccaggtggcagtcGcactgccaggggttaccgtg	17	10	0	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:194062235G>A	ENST00000323830.3	-	2	1286	c.1197C>T	c.(1195-1197)tgC>tgT	p.C399C	CPN2_ENST00000429275.1_Silent_p.C399C	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	399	LRRCT.				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)		GGTGGCAGTCGCACTGCCAGG	0.597													60	194					0	0	1	0	0	A	194062235	G	A	194062235	2	1	13	1	0	0	0	0	0	0	0	1	3833	1079	38	1		1	CPN2	3	194062235	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	36981009	194062235	3960195	27	1119											
CRIPAK	285464	broad.mit.edu	37	chr4	1388838	1388839	+	Frame_Shift_Del	DEL	CA	CA	-													atgtggagtgcccgcctgctCacacgtgccaacgtggagtg					rs71299249		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:1388838_1388839delCA	ENST00000324803.4	+	1	3499_3500	c.539_540delCA	c.(538-540)tfs	p.S180fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	180					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)			CCCGCCTGCTCACACGTGCCAA	0.673													7	1841	---	---	---	---						-	1388839	CA	-	1388838	7	5	13	1	0	1	0	1	0	0	0	0	3900	838	29	0	541	0	CRIPAK	4	1388838	Frame_Shift_Del	DEL	CA	TCGA-H8-A6C1-01A-11D-A32N-08		1388838	189765438	28	1120											
DRD5	0	broad.mit.edu	37	chr4	9783938	9783938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtggcgctgctggtcatGccctggaaggcagtcgccga	15	12	1	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:9783938G>A	ENST00000304374.2	+	1	681	c.285G>A	c.(283-285)atG>atA	p.M95I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	95					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)	TGCTGGTCATGCCCTGGAAGG	0.637													5	233					0	0	1	0	0	A	9783938	G	A	9783938	3	1	13	1	0	0	0	0	1	0	0	0	4786	1319	46	2	287	2	DRD5	4	9783938	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	8395100	9783938	181370338	29	1121											
FRG1	2483	broad.mit.edu	37	chr4	190878604	190878604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttattagatgcaatgaaGcaggggacatagaagcaaaa	11	5	0	3			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:190878604G>A	ENST00000226798.4	+	6	706	c.484G>A	c.(484-486)Gca>Aca	p.A162T	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	162					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)		ATGCAATGAAGCAGGGGACAT	0.383													4	200					0	0	1	0	0	A	190878604	G	A	190878604	3	1	13	1	0	0	0	0	1	0	0	0	6081	971	34	2	506	2	FRG1	4	190878604	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	181094666	190878604	275672	30	1122											
CEP72	55722	broad.mit.edu	37	chr5	640649	640651	+	In_Frame_Del	DEL	AGC	AGC	-													cctgcaaagccgccttgctgAgcagcagcagcagcacgccc							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:640649_640651delAGC	ENST00000264935.5	+	9	1559_1561	c.1469_1471delAGC	c.(1468-1473)gag>g	p.EQ490del	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	490					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)			CGCCTTGCTGAGCAGCAGCAGCA	0.621													8	255	---	---	---	---						-	640651	AGC	-	640649	7	5	13	1	0	1	0	1	0	0	0	0	3282	304	11	0	1503	0	CEP72	5	640649	In_Frame_Del	DEL	AGC	TCGA-H8-A6C1-01A-11D-A32N-08		640649	180274611	31	1123											
PCSK1	5122	broad.mit.edu	37	chr5	95746544	95746544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggagcacttctcagcGtaccagggggataggccttg	16	9	1	0	rs145132329		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:95746544G>A	ENST00000311106.3	-	8	1266	c.1029C>T	c.(1027-1029)taC>taT	p.Y343Y	PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.Y296Y	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	343	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	p.Y343Y(1)		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)	ACTTCTCAGCGTACCAGGGGG	0.527													6	616					0	0	1	0	0	A	95746544	G	A	95746544	2	1	13	1	0	0	0	0	0	0	0	1	11647	1140	40	1		1	PCSK1	5	95746544	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	95105895	95746544	85168716	32	1124											
PCDHA9	0	broad.mit.edu	37	chr5	140228551	140228551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtttccactagagggcgcGtccgatgcagatatcgggga	15	10	0	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:140228551G>A	ENST00000378122.3	+	1	1195	c.471G>A	c.(469-471)gcG>gcA	p.A157A	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.A157A|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_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)			TAGAGGGCGCGTCCGATGCAG	0.537													43	205					0	0	1	0	0	A	140228551	G	A	140228551	2	1	13	1	0	0	0	0	0	0	0	1	11578	1132	40	1		1	PCDHA9	5	140228551	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	44482007	140228551	40686709	33	1125											
PCDHGB3	0	broad.mit.edu	37	chr5	140751055	140751055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgctgagctggggactgCcgttgccctgatcaaaacac	12	11	1	3			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:140751055C>T	ENST00000576222.1	+	1	1225	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_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)			CTGGGGACTGCCGTTGCCCTG	0.408													6	121					0	0	1	0	0	T	140751055	C	T	140751055	3	4	13	1	0	0	0	0	1	0	0	0	11611	739	26	2	1096	2	PCDHGB3	5	140751055	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	522504	140751055	40164205	34	1126											
AARS2	57505	broad.mit.edu	37	chr6	44270894	44270894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccccactgataccacccGcacagggtctgggtaaacct	8	17	1	1	rs145436818	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:44270894G>A	ENST00000244571.4	-	16	2166	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	722					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	p.R722W(1)		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)	GATACCACCCGCACAGGGTCT	0.607													5	199					0	0	1	0	0	A	44270894	G	A	44270894	3	1	13	1	0	0	0	0	1	0	0	0	20	1086	38	1	821	1	AARS2	6	44270894	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08		44270894	126844173	35	1127											
CRISP2	7180	broad.mit.edu	37	chr6	49667525	49667525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatttacatactggttttgCggtcctctggatcactatgt	8	8	2	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:49667525C>T	ENST00000339139.4	-	6	499	c.263G>A	c.(262-264)cGc>cAc	p.R88H		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	88						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			actggttttgcggtcctctgG	0.338													4	130					0	0	1	0	0	T	49667525	C	T	49667525	3	4	13	1	0	0	0	0	1	0	0	0	3903	768	27	1	488	1	CRISP2	6	49667525	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	5396631	49667525	121447542	36	1128											
LAMA2	3908	broad.mit.edu	37	chr6	129802516	129802516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcaccaagaatgagtccGgcatcattcttttgggaagt	10	9	3	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:129802516G>A	ENST00000421865.2	+	55	7730	c.7681G>A	c.(7681-7683)Ggc>Agc	p.G2561S	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2561	Laminin G-like 3.				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)		GAATGAGTCCGGCATCATTCT	0.488													75	321					0	0	1	0	0	A	129802516	G	A	129802516	3	1	13	1	0	0	0	0	1	0	0	0	8645	1116	39	1	7899	1	LAMA2	6	129802516	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	80134991	129802516	41312551	37	1129											
ARHGAP18	93663	broad.mit.edu	37	chr6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T													caggaatctggtactgtttgINSttttttttcctcaaggtctg							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aaafs	p.K163fs		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	163					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)		GGTACTGTTTGTTTTTTTTCCT	0.421													7	669	---	---	---	---						T	129959603	-	T	129959602	7	5	13	1	0	1	1	0	0	0	0	0	865	1368	48	0	1554	0	ARHGAP18	6	129959602	Frame_Shift_Ins	INS	-	TCGA-H8-A6C1-01A-11D-A32N-08	157086	129959602	41155465	38	1130											
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-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	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_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|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													8	777					0	0	1	0	0	G	72398976	A	G	72398976	3	3	13	1	0	0	0	0	1	0	0	0	12287	101	4	3	291	3	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-H8-A6C1-01A-11D-A32N-08		72398976	86739687	39	1131											
SPDYE3	441272	broad.mit.edu	37	chr7	99917393	99917393	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagttcttctgttccatgCgctgcagggcttgggtttcc	11	12	2	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:99917393C>A	ENST00000332397.6	+	9	1736	c.1552C>A	c.(1552-1554)Cgc>Agc	p.R518S	SPDYE3_ENST00000437326.2_Missense_Mutation_p.R141S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	518										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CTGTTCCATGCGCTGCAGGGC	0.612													6	327					1.52009e-12	1.68341e-12	1	1	0	A	99917393	C	A	99917393	3	1	13	1	0	0	0	0	1	0	0	0	15088	768	27	4	1586	4	SPDYE3	7	99917393	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	27518417	99917393	59221270	40	1132											
FOXP2	93986	broad.mit.edu	37	chr7	114270015	114270015	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacagcagcagcagcagcaAcagcagcagcagcagcaaca	10	14	0	0	rs146945410	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:114270015A>G	ENST00000393500.3	+	11	1147	c.327A>G	c.(325-327)caA>caG	p.Q109Q	FOXP2_ENST00000393491.3_Silent_p.Q92Q|FOXP2_ENST00000390668.3_Silent_p.Q208Q|FOXP2_ENST00000350908.4_Silent_p.Q184Q|FOXP2_ENST00000378237.3_Silent_p.Q184Q|FOXP2_ENST00000408937.3_Silent_p.Q209Q|FOXP2_ENST00000393498.2_Silent_p.Q164Q|FOXP2_ENST00000393489.3_Silent_p.Q92Q|FOXP2_ENST00000360232.4_Silent_p.Q184Q|FOXP2_ENST00000393494.2_Silent_p.Q184Q|FOXP2_ENST00000403559.4_Silent_p.Q201Q			O15409	FOXP2_HUMAN	forkhead box P2	184	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						agcagcagcaacagcagcagc	0.502													6	203					0	0	1	0	0	G	114270015	A	G	114270015	2	3	13	1	0	0	0	0	0	0	0	1	6061	40	2	3		3	FOXP2	7	114270015	Silent	SNP	A	TCGA-H8-A6C1-01A-11D-A32N-08	14352622	114270015	44868648	41	1133											
PBK	55872	broad.mit.edu	37	chr8	27690580	27690581	+	Frame_Shift_Ins	INS	-	-	T													ctgctatcttaccagatttcINStttttttctgataatttgct							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:27690580_27690581insT	ENST00000301905.4	-	2	513_514	c.50_51insA	c.(49-51)aaafs	p.K17fs	PBK_ENST00000522944.1_Frame_Shift_Ins_p.K17fs	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	17					mitosis		ATP binding|protein binding|protein serine/threonine kinase activity	p.K17K(2)		endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		TACCAGATTTCTTTTTTTCTGA	0.322													15	65	---	---	---	---						T	27690581	-	T	27690580	7	5	13	1	0	1	1	0	0	0	0	0	11535	912	32	0	945	0	PBK	8	27690580	Frame_Shift_Ins	INS	-	TCGA-H8-A6C1-01A-11D-A32N-08		27690580	118673442	42	1134											
WRN	7486	broad.mit.edu	37	chr8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-													aaatctgggtcttcctactaAagaagaagaagaagatgatg							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaa>a	p.KE506del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	506					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)		CTTCCTACTAaagaagaagaaga	0.36			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				7	259	---	---	---	---						-	30945379	AAG	-	30945377	7	5	13	1	0	1	0	1	0	0	0	0	17462	14	1	0	1559	0	WRN	8	30945377	In_Frame_Del	DEL	AAG	TCGA-H8-A6C1-01A-11D-A32N-08	3254797	30945377	115418645	43	1135											
MSC	9242	broad.mit.edu	37	chr8	72754901	72754901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttccagtccgatttaagCggtggttccacatagtctgt	11	9	1	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:72754901C>T	ENST00000325509.4	-	2	905	c.616G>A	c.(616-618)Gct>Act	p.A206T	MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	206					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.A206T(2)		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)			CCGATTTAAGCGGTGGTTCCA	0.493													254	1073					0	0	1	0	0	T	72754901	C	T	72754901	3	4	13	1	0	0	0	0	1	0	0	0	9917	768	27	1	8	1	MSC	8	72754901	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	41809524	72754901	73609121	44	1136											
RIMS2	9699	broad.mit.edu	37	chr8	104709490	104709490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaacaaagttctgtgctcGttgtggaggtcgagtgtcat	12	8	2	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:104709490G>A	ENST00000406091.3	+	2	353	c.353G>A	c.(352-354)cGt>cAt	p.R118H		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	149	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)			TTCTGTGCTCGTTGTGGAGGT	0.413										HNSCC(12;0.0054)			74	294					0	0	1	0	0	A	104709490	G	A	104709490	3	1	13	1	0	0	0	0	1	0	0	0	13420	1145	40	1	359	1	RIMS2	8	104709490	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	31954589	104709490	41654532	45	1137											
SMC2	10592	broad.mit.edu	37	chr9	106878520	106878520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaaaggggggaactgaaaCgtcgatacactataattcca	10	7	0	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:106878520C>T	ENST00000286398.7	+	14	1999	c.1711C>T	c.(1711-1713)Cgt>Tgt	p.R571C	SMC2_ENST00000303219.8_Missense_Mutation_p.R571C|SMC2_ENST00000374787.3_Missense_Mutation_p.R571C|SMC2_ENST00000374793.3_Missense_Mutation_p.R571C	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	571	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						GGAACTGAAACGTCGATACAC	0.348													27	130					0	0	1	0	0	T	106878520	C	T	106878520	3	4	13	1	0	0	0	0	1	0	0	0	14837	536	19	1	1761	1	SMC2	9	106878520	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08		106878520	34334911	46	1138											
ZNF483	158399	broad.mit.edu	37	chr9	114305358	114305358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacctaaaaattcataccGgaaggagagaatatgaatgt	8	6	1	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:114305358G>A	ENST00000309235.5	+	6	2301	c.2143G>A	c.(2143-2145)Gga>Aga	p.G715R	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	715					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						AATTCATACCGGAAGGAGAGA	0.403													4	255					0	0	1	0	0	A	114305358	G	A	114305358	3	1	13	1	0	0	0	0	1	0	0	0	17993	1117	39	1	2161	1	ZNF483	9	114305358	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	7426838	114305358	26908073	47	1139											
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-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:124062285T>G	ENST00000373818.4	+	1	213		c.e1+2		GSN_ENST00000341272.2_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000449733.1_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													26	50					0	0	1	0	0	G	124062285	T	G	124062285	5	3	13	1	0	0	0	0	0	0	1	0	6866	1710	59	3	148	3	GSN	9	124062285	Splice_Site	SNP	T	TCGA-H8-A6C1-01A-11D-A32N-08	9756927	124062285	17151146	48	1140											
CARD9	64170	broad.mit.edu	37	chr9	139266361	139266361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgacccactttccgtttgCggatgaccaggttggggtcg	13	11	0	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:139266361C>T	ENST00000371732.5	-	2	335	c.170G>A	c.(169-171)cGc>cAc	p.R57H	CARD9_ENST00000315908.7_Missense_Mutation_p.R57H|CARD9_ENST00000371734.3_Missense_Mutation_p.R57H	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	57	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)		TTTCCGTTTGCGGATGACCAG	0.637													6	968					0	0	1	0	0	T	139266361	C	T	139266361	3	4	13	1	0	0	0	0	1	0	0	0	2670	768	27	1	1541	1	CARD9	9	139266361	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	15204076	139266361	1947070	49	1141											
ITIH5	80760	broad.mit.edu	37	chr10	7618670	7618670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgaggtagctccagagaCgctcgatgtggttggtgtcc	16	8	0	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:7618670C>T	ENST00000256861.6	-	10	1802	c.1724G>A	c.(1723-1725)cGt>cAt	p.R575H	ITIH5_ENST00000446830.2_Missense_Mutation_p.R357H|ITIH5_ENST00000298441.6_Missense_Mutation_p.R361H|ITIH5_ENST00000397145.2_Missense_Mutation_p.R575H|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.R575H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	575					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						GCTCCAGAGACGCTCGATGTG	0.627													38	152					0	0	1	0	0	T	7618670	C	T	7618670	3	4	13	1	0	0	0	0	1	0	0	0	7951	536	19	1	1247	1	ITIH5	10	7618670	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08		7618670	127916077	50	1142											
PCDH15	65217	broad.mit.edu	37	chr10	55944926	55944926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtttgctgttcttccctgtCcactggttgaagtaaggtga	11	8	1	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:55944926C>T	ENST00000373965.2	-	13	1823	c.1429G>A	c.(1429-1431)Gac>Aac	p.D477N	PCDH15_ENST00000361849.3_Missense_Mutation_p.D470N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D448N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D470N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.D477N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D470N|PCDH15_ENST00000395446.1_Missense_Mutation_p.D470N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D470N|PCDH15_ENST00000395432.2_Missense_Mutation_p.D433N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.D475N|PCDH15_ENST00000373957.3_Missense_Mutation_p.D448N|PCDH15_ENST00000395430.1_Missense_Mutation_p.D470N|PCDH15_ENST00000409834.1_Missense_Mutation_p.D81N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D470N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	470	Cadherin 4.				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)				TCTTCCCTGTCCACTGGTTGA	0.398										HNSCC(58;0.16)			42	175					0	0	1	0	0	T	55944926	C	T	55944926	3	4	13	1	0	0	0	0	1	0	0	0	11558	855	30	2	6166	2	PCDH15	10	55944926	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	48326256	55944926	79589821	51	1143											
NARS2	79731	broad.mit.edu	37	chr11	78180334	78180334	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggatgcttgctttaagaTctccactgcttcagtataag	9	9	2	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:78180334T>G	ENST00000281038.5	-	10	1360	c.985A>C	c.(985-987)Atc>Ctc	p.I329L	NARS2_ENST00000528850.1_Missense_Mutation_p.I102L	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	329					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)	TGCTTTAAGATCTCCACTGCT	0.378													29	144					0	0	1	0	0	G	78180334	T	G	78180334	3	3	13	1	0	0	0	0	1	0	0	0	10219	1435	50	3	468	3	NARS2	11	78180334	Missense_Mutation	SNP	T	TCGA-H8-A6C1-01A-11D-A32N-08		78180334	56826182	52	1144											
IFFO1	25900	broad.mit.edu	37	chr12	6650735	6650735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatctgcacgtccaggccgCgcttcatgctgcacatctcc	8	18	3	0	rs144197395		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:6650735C>T	ENST00000436152.2	-	10	1167	c.608G>A	c.(607-609)cGc>cAc	p.R203H	IFFO1_ENST00000336604.4_Missense_Mutation_p.R509H|IFFO1_ENST00000356896.4_Missense_Mutation_p.R510H|IFFO1_ENST00000396840.2_Missense_Mutation_p.R506H|IFFO1_ENST00000465801.1_Missense_Mutation_p.R202H			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	506						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GTCCAGGCCGCGCTTCATGCT	0.662													66	318					0	0	1	0	0	T	6650735	C	T	6650735	3	4	13	1	0	0	0	0	1	0	0	0	7554	768	27	1	170	1	IFFO1	12	6650735	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08		6650735	127201160	53	1145											
CD163L1	283316	broad.mit.edu	37	chr12	7527078	7527078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccttgtgcctgcagtcGtgctgcccccagccgcggga	12	17	0	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:7527078G>A	ENST00000313599.3	-	13	3426	c.3369C>T	c.(3367-3369)caC>caT	p.H1123H	CD163L1_ENST00000416109.2_Silent_p.H1133H|CD163L1_ENST00000396630.1_Silent_p.H1123H			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1123	SRCR 10.					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						GCCTGCAGTCGTGCTGCCCCC	0.607													5	270					0	0	1	0	0	A	7527078	G	A	7527078	2	1	13	1	0	0	0	0	0	0	0	1	2990	1136	40	1		1	CD163L1	12	7527078	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	876343	7527078	126324817	54	1146											
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-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	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)			11	73					4.36969e-10	4.7995e-10	1	1	0	A	25398284	C	A	25398284	3	1	13	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	17871206	25398284	108453611	55	1147											
TROAP	10024	broad.mit.edu	37	chr12	49722972	49722972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtgttgcggcgtctcaCcgttcaacctaaaacccggt	9	13	3	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:49722972C>T	ENST00000551245.1	+	10	1160	c.1049C>T	c.(1048-1050)aCc>aTc	p.T350I	TROAP_ENST00000257909.3_Missense_Mutation_p.T350I|TROAP_ENST00000547923.1_Missense_Mutation_p.T58I			Q12815	TROAP_HUMAN	trophinin associated protein	350					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						CGGCGTCTCACCGTTCAACCT	0.552													7	680					0	0	1	0	0	T	49722972	C	T	49722972	3	4	13	1	0	0	0	0	1	0	0	0	16636	507	18	2	1185	2	TROAP	12	49722972	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	24324688	49722972	84128923	56	1148											
CUX2	23316	broad.mit.edu	37	chr12	111758235	111758237	+	In_Frame_Del	DEL	TCC	TCC	-													cctccgtgtcgccctcgctgTcctcctcctcctcctctggc							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:111758235_111758237delTCC	ENST00000261726.6	+	17	2576_2578	c.2422_2424delTCC	c.(2422-2424)del	p.S813del		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	813	Poly-Ser.					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						GCCCTCGCTGTCCTCCTCCTCCT	0.749													7	295	---	---	---	---						-	111758237	TCC	-	111758235	7	5	13	1	0	1	0	1	0	0	0	0	4088	1667	58	0	2488	0	CUX2	12	111758235	In_Frame_Del	DEL	TCC	TCGA-H8-A6C1-01A-11D-A32N-08	62035263	111758235	22093660	57	1149											
SBNO1	55206	broad.mit.edu	37	chr12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagctgtttctgttggaccGcaagctgttgagactggtct	12	8	2	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:123780522G>A	ENST00000420886.2	-	31	4114	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372							ATP binding|DNA binding|hydrolase activity	p.A1371V(2)		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)		CTGTTGGACCGCAAGCTGTTG	0.433													6	554					0	0	1	0	0	A	123780522	G	A	123780522	3	1	13	1	0	0	0	0	1	0	0	0	13915	1087	38	1	70	1	SBNO1	12	123780522	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	12022287	123780522	10071373	58	1150											
ZMYM5	9205	broad.mit.edu	37	chr13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-													tatagattcaataaacacaaCatcatcatcatcatcatcat							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gtt>g	p.DV59del	ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					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)		ATAAACACAAcatcatcatcatc	0.379													8	235	---	---	---	---						-	20426145	CAT	-	20426143	7	5	13	1	0	1	0	1	0	0	0	0	17761	478	17	0	1966	0	ZMYM5	13	20426143	In_Frame_Del	DEL	CAT	TCGA-H8-A6C1-01A-11D-A32N-08		20426143	94743735	59	1151											
APBA2	321	broad.mit.edu	37	chr15	29346361	29346363	+	In_Frame_Del	DEL	GAG	GAG	-													actatgacgagggcctccctGaggaggaggagggcatcacc							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:29346361_29346363delGAG	ENST00000558402.1	+	5	873_875	c.274_276delGAG	c.(274-276)del	p.E95del	APBA2_ENST00000561069.1_In_Frame_Del_p.E95del|APBA2_ENST00000558330.1_In_Frame_Del_p.E95del|APBA2_ENST00000558259.1_In_Frame_Del_p.E95del|APBA2_ENST00000411764.1_In_Frame_Del_p.E95del			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	95	Poly-Glu.				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)		GGGCCTCCCTGAGGAGGAGGAGG	0.601													7	708	---	---	---	---						-	29346363	GAG	-	29346361	7	5	13	1	0	1	0	1	0	0	0	0	753	1291	45	0	276	0	APBA2	15	29346361	In_Frame_Del	DEL	GAG	TCGA-H8-A6C1-01A-11D-A32N-08		29346361	73185031	60	1152											
MGA	23269	broad.mit.edu	37	chr15	41961798	41961798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagactgaattctttgcaGtaacagcttatcagaacatt	6	9	2	3			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:41961798G>A	ENST00000219905.7	+	2	887	c.706G>A	c.(706-708)Gta>Ata	p.V236I	MGA_ENST00000570161.1_Missense_Mutation_p.V236I|MGA_ENST00000566586.1_Missense_Mutation_p.V236I|MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Missense_Mutation_p.V236I|MGA_ENST00000545763.1_Missense_Mutation_p.V236I	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	236						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)		ATTCTTTGCAGTAACAGCTTA	0.438													4	118					0	0	1	0	0	A	41961798	G	A	41961798	3	1	13	1	0	0	0	0	1	0	0	0	9590	1029	36	2	708	2	MGA	15	41961798	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	12615437	41961798	60569594	61	1153											
AQP9	366	broad.mit.edu	37	chr15	58465314	58465314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcaatgtgtctctttggaCggatgaaatggttcaaattg	11	5	2	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:58465314C>T	ENST00000219919.4	+	3	656	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.R31W|AQP9_ENST00000536493.1_Missense_Mutation_p.R96W	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	96					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)		TCTCTTTGGACGGATGAAATG	0.468													11	641					0	0	1	0	0	T	58465314	C	T	58465314	3	4	13	1	0	0	0	0	1	0	0	0	830	527	19	1	296	1	AQP9	15	58465314	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	16503516	58465314	44066078	62	1154											
ISLR	3671	broad.mit.edu	37	chr15	74467397	74467397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccggctgccaggcttgccGgagggtgccttcagggaggt	17	11	1	0	rs145245668	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:74467397G>A	ENST00000249842.3	+	2	555	c.198G>A	c.(196-198)ccG>ccA	p.P66P	ISLR_ENST00000395118.1_Silent_p.P66P|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	66					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CAGGCTTGCCGGAGGGTGCCT	0.667													6	334					0	0	1	0	0	A	74467397	G	A	74467397	2	1	13	1	0	0	0	0	0	0	0	1	7902	1103	39	1		1	ISLR	15	74467397	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	16002083	74467397	28063995	63	1155											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84694186	84694186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtgggaaccagggaacCgggtaaagctaacacatcta	11	9	2	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:84694186C>T	ENST00000286744.5	+	27	4878	c.4654C>T	c.(4654-4656)Cgg>Tgg	p.R1552W	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1552W	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1552						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)			ACCAGGGAACCGGGTAAAGCT	0.478													21	67					0	0	1	0	0	T	84694186	C	T	84694186	3	4	13	1	0	0	0	0	1	0	0	0	275	643	23	1	4756	1	ADAMTSL3	15	84694186	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	10226789	84694186	17837206	64	1156											
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-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:4516232G>A	ENST00000574733.1	-	4	1180	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	NMRAL1_ENST00000574425.1_Missense_Mutation_p.R151W|NMRAL1_ENST00000283429.6_Missense_Mutation_p.R151W|NMRAL1_ENST00000404295.3_Missense_Mutation_p.R151W|NMRAL1_ENST00000572391.1_5'UTR			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													5	234					0	0	1	0	0	A	4516232	G	A	4516232	3	1	13	1	0	0	0	0	1	0	0	0	10548	1086	38	1	460	1	NMRAL1	16	4516232	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08		4516232	85838521	65	1157											
TMC7	79905	broad.mit.edu	37	chr16	19058506	19058506	+	Frame_Shift_Del	DEL	T	T	-													ccatctgctggatcggagccTttttctcaccccttctccct							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:19058506delT	ENST00000421369.3	+	12	1903	c.1345delT	c.(1345-1347)ttfs	p.F450fs	TMC7_ENST00000304381.5_Frame_Shift_Del_p.F560fs|TMC7_ENST00000569532.1_Frame_Shift_Del_p.F560fs	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	560						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						GATCGGAGCCTTTTTCTCACC	0.502													7	1369	---	---	---	---						-	19058506	T	-	19058506	7	5	13	1	0	1	0	1	0	0	0	0	16050	1609	56	0	1721	0	TMC7	16	19058506	Frame_Shift_Del	DEL	T	TCGA-H8-A6C1-01A-11D-A32N-08	14542274	19058506	71296247	66	1158											
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-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:69832593G>A	ENST00000359154.2	+	3	180	c.79G>A	c.(79-81)Gca>Aca	p.A27T	WWP2_ENST00000569174.1_Missense_Mutation_p.A27T|WWP2_ENST00000448661.1_Missense_Mutation_p.A27T|WWP2_ENST00000356003.2_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)	7	373					0	0	1	0	0	A	69832593	G	A	69832593	3	1	13	1	0	0	0	0	1	0	0	0	17476	1087	38	1	85	1	WWP2	16	69832593	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	50774087	69832593	20522160	67	1159											
BCAR1	9564	broad.mit.edu	37	chr16	75269102	75269102	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggctccagagcctccccgGccagcgtcgagggcctgacc	14	17	0	2	rs138166614		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:75269102G>A	ENST00000546196.1	-	5	3260	c.1608C>T	c.(1606-1608)ggC>ggT	p.G536G	BCAR1_ENST00000418647.3_Silent_p.G611G|BCAR1_ENST00000162330.5_Silent_p.G565G|BCAR1_ENST00000393420.6_Silent_p.G583G|BCAR1_ENST00000420641.3_Silent_p.G583G|BCAR1_ENST00000393422.2_Silent_p.G583G|BCAR1_ENST00000542031.2_Silent_p.G563G|BCAR1_ENST00000538440.2_Silent_p.G565G|BCAR1_ENST00000535626.2_Silent_p.G417G|BCAR1_ENST00000566982.1_5'UTR			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	565	Ser-rich.				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)		AGCCTCCCCGGCCAGCGTCGA	0.682													4	203					0	0	1	0	0	A	75269102	G	A	75269102	2	1	13	1	0	0	0	0	0	0	0	1	1346	1190	42	2		2	BCAR1	16	75269102	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	5436509	75269102	15085651	68	1160											
USP10	9100	broad.mit.edu	37	chr16	84793046	84793046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtattccaaagtgcaaagGccttgtacgtcaacacccat	7	12	1	0	rs113266067		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:84793046G>A	ENST00000219473.7	+	6	1475	c.1362G>A	c.(1360-1362)agG>agA	p.R454R	USP10_ENST00000570191.1_Silent_p.R458R	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	454					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						AAGTGCAAAGGCCTTGTACGT	0.448													6	194					0	0	1	0	0	A	84793046	G	A	84793046	2	1	13	1	0	0	0	0	0	0	0	1	17101	1194	42	2		2	USP10	16	84793046	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	9523944	84793046	5561707	69	1161											
PRPF8	10594	broad.mit.edu	37	chr17	1582381	1582381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtagttgaggtttttgCggtgaatgagaaggttgagc	17	3	0	4			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:1582381C>T	ENST00000572621.1	-	10	1794	c.1529G>A	c.(1528-1530)cGc>cAc	p.R510H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R510H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	510						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)		GAGGTTTTTGCGGTGAATGAG	0.537													5	354					0	0	1	0	0	T	1582381	C	T	1582381	3	4	13	1	0	0	0	0	1	0	0	0	12627	768	27	1	5610	1	PRPF8	17	1582381	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08		1582381	79612829	70	1162											
TP53	7157	broad.mit.edu	37	chr17	7579716	7579716	+	Frame_Shift_Del	DEL	G	G	-													ttaccagaacgttgttttcaGgaagtctgaaagacaagagc							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:7579716delG	ENST00000420246.2	-	3	212	c.80delC	c.(79-81)ctfs	p.P27fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P27fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	27	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.0?(8)|p.P27fs*17(4)|p.P27fs*50(1)|p.P13fs*18(1)|p.L26fs*11(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)		GTTGTTTTCAGGAAGTCTGAA	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)			29	173	---	---	---	---						-	7579716	G	-	7579716	7	5	13	1	0	1	0	1	0	0	0	0	16442	1000	35	0	1226	0	TP53	17	7579716	Frame_Shift_Del	DEL	G	TCGA-H8-A6C1-01A-11D-A32N-08	5997335	7579716	73615494	71	1163											
AOC2	314	broad.mit.edu	37	chr17	40997803	40997803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcagctttggactcggccGtaacagccgaggcttggtgc	14	11	0	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:40997803G>A	ENST00000253799.3	+	1	1187	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	AOC2_ENST00000452774.2_Missense_Mutation_p.R387H	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	387					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)		GGACTCGGCCGTAACAGCCGA	0.542													5	367					0	0	1	0	0	A	40997803	G	A	40997803	3	1	13	1	0	0	0	0	1	0	0	0	723	1145	40	1	1162	1	AOC2	17	40997803	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	33418087	40997803	40197407	72	1164											
GPATCH8	23131	broad.mit.edu	37	chr17	42477425	42477425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctttttctttttgtgccGgtgggacttcccagatcgtt	9	10	2	1	rs148452781		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:42477425G>A	ENST00000434000.1	-	9	2068	c.1786C>T	c.(1786-1788)Cgg>Tgg	p.R596W	GPATCH8_ENST00000591680.1_Missense_Mutation_p.R674W			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	674						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)		TTTTTGTGCCGGTGGGACTTC	0.502													5	432					0	0	1	0	0	A	42477425	G	A	42477425	3	1	13	1	0	0	0	0	1	0	0	0	6634	1115	39	1	2492	1	GPATCH8	17	42477425	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	1479622	42477425	38717785	73	1165											
GPRC5C	0	broad.mit.edu	37	chr17	72436919	72436919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagagcagaagggtcagaGcatgttcgtggagaacaagg	16	5	1	4			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:72436919G>A	ENST00000392627.1	+	2	2265	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N	GPRC5C_ENST00000392629.2_Missense_Mutation_p.S347N|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Missense_Mutation_p.S20N	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	335						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						AAGGGTCAGAGCATGTTCGTG	0.577													6	208					0	0	1	0	0	A	72436919	G	A	72436919	3	1	13	1	0	0	0	0	1	0	0	0	6767	971	34	2	1153	2	GPRC5C	17	72436919	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	29959494	72436919	8758291	74	1166											
RNF213	57674	broad.mit.edu	37	chr17	78348328	78348328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgaatacaaggctctccGtgatgctgtggccaaagctg	12	10	1	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:78348328G>A	ENST00000582970.1	+	50	13156	c.13013G>A	c.(13012-13014)cGt>cAt	p.R4338H	RNF213_ENST00000336301.6_Missense_Mutation_p.R2411H|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4387H|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)			AAGGCTCTCCGTGATGCTGTG	0.577													65	225					0	0	1	0	0	A	78348328	G	A	78348328	3	1	13	1	0	0	0	0	1	0	0	0	13529	1145	40	1	13526	1	RNF213	17	78348328	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	5911409	78348328	2846882	75	1167											
HNRNPM	4670	broad.mit.edu	37	chr19	8550904	8550904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggcctgagcatggagcGcatggtgcccgcaggtatgg	17	10	0	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:8550904G>A	ENST00000348943.3	+	15	1707	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H	HNRNPM_ENST00000325495.4_Missense_Mutation_p.R531H	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						AGCATGGAGCGCATGGTGCCC	0.687													5	412					0	0	1	0	0	A	8550904	G	A	8550904	3	1	13	1	0	0	0	0	1	0	0	0	7312	1087	38	1	1646	1	HNRNPM	19	8550904	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08		8550904	50578079	76	1168											
ZNF878	729747	broad.mit.edu	37	chr19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacgaacagaactgggaaaActgaatgctttcccacactg	8	11	0	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:12155673A>C	ENST00000602107.1	-	5	683	c.684T>G	c.(682-684)agT>agG	p.S228R	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R			C9JN71	ZN878_HUMAN	zinc finger protein 878	181					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						AACTGGGAAAACTGAATGCTT	0.403													7	650					0	0	1	0	0	C	12155673	A	C	12155673	3	2	13	1	0	0	0	0	1	0	0	0	18239	40	2	3	1056	3	ZNF878	19	12155673	Missense_Mutation	SNP	A	TCGA-H8-A6C1-01A-11D-A32N-08	3604769	12155673	46973310	77	1169											
MAN2B1	4125	broad.mit.edu	37	chr19	12760241	12760241	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtgggtcgataatcccGcctggggttgggggtgagct	18	9	0	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:12760241G>A	ENST00000456935.2	-	19	2309	c.2267_splice	c.e19-1	p.R757_splice	MAN2B1_ENST00000221363.4_Splice_Site_p.R756_splice	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	757					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						CGATAATCCCGCCTGGGGTTG	0.522													15	70					0	0	1	0	0	A	12760241	G	A	12760241	5	1	13	1	0	0	0	0	0	0	1	0	9266	1101	38	1	790	1	MAN2B1	19	12760241	Splice_Site	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	604568	12760241	46368742	78	1170											
C19orf55	148137	broad.mit.edu	37	chr19	36253204	36253204	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atacagctgtccctactgcgGtcaacgtgaccagtgcatcc	9	14	1	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:36253204G>T	ENST00000544099.1	+	5	553	c.490G>T	c.(490-492)Gtc>Ttc	p.V164F	C19orf55_ENST00000396908.4_Missense_Mutation_p.V164F|C19orf55_ENST00000536950.1_Missense_Mutation_p.V163F|C19orf55_ENST00000537459.1_Missense_Mutation_p.V164F|C19orf55_ENST00000421853.2_Missense_Mutation_p.V64F			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	164										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)			CCCTACTGCGGTCAACGTGAC	0.572													8	41					0.000157383	0.000166058	1	1	0	T	36253204	G	T	36253204	3	4	13	1	0	0	0	0	1	0	0	0	1949	1261	44	2	508	2	C19orf55	19	36253204	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	23492963	36253204	22875779	79	1171											
VASP	7408	broad.mit.edu	37	chr19	46021317	46021317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggatgcggcccagtttgCcgccggcatggccagtgccc	16	14	0	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:46021317C>T	ENST00000245932.6	+	3	664	c.308C>T	c.(307-309)gCc>gTc	p.A103V	VASP_ENST00000586619.1_3'UTR	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	103	WH1.				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		GCCCAGTTTGCCGCCGGCATG	0.642													4	194					0	0	1	0	0	T	46021317	C	T	46021317	3	4	13	1	0	0	0	0	1	0	0	0	17188	739	26	2	318	2	VASP	19	46021317	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	9768113	46021317	13107666	80	1172											
SYMPK	8189	broad.mit.edu	37	chr19	46331114	46331114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcatcctcgcagtacttgCggaccacctccagggcactc	8	18	1	0			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:46331114C>T	ENST00000245934.7	-	15	2292	c.2048G>A	c.(2047-2049)cGc>cAc	p.R683H		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	683					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)		GCAGTACTTGCGGACCACCTC	0.632													6	777					0	0	1	0	0	T	46331114	C	T	46331114	3	4	13	1	0	0	0	0	1	0	0	0	15496	768	27	1	1828	1	SYMPK	19	46331114	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	309797	46331114	12797869	81	1173											
CCDC114	93233	broad.mit.edu	37	chr19	48800557	48800557	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgctggagctgaggccGccaaaagtgacgtggccaag	15	11	0	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:48800557G>A	ENST00000315396.7	-	14	2371	c.1689C>T	c.(1687-1689)ggC>ggT	p.G563G		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	563										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)		AGCTGAGGCCGCCAAAAGTGA	0.642													5	254					0	0	1	0	0	A	48800557	G	A	48800557	2	1	13	1	0	0	0	0	0	0	0	1	2769	1074	38	1		1	CCDC114	19	48800557	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	2469443	48800557	10328426	82	1174											
ZNF347	84671	broad.mit.edu	37	chr19	53644386	53644386	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgtaaggtttttcTccagtatggatgacctgatg	9	6	1	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:53644386T>A	ENST00000452676.2	-	5	2124	c.1698A>T	c.(1696-1698)ggA>ggT	p.G566G	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					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)		AAGGTTTTTCTCCAGTATGGA	0.408													7	533					0	0	1	0	0	A	53644386	T	A	53644386	2	1	13	1	0	0	0	0	0	0	0	1	17918	1538	54	5		5	ZNF347	19	53644386	Silent	SNP	T	TCGA-H8-A6C1-01A-11D-A32N-08	4843829	53644386	5484597	83	1175											
NLRP2	55655	broad.mit.edu	37	chr19	55494005	55494005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgggagaagaagaagccGgtgcccgtcctcctggggag	17	10	0	3	rs61735080	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:55494005G>A	ENST00000543010.1	+	6	1082	c.939G>A	c.(937-939)ccG>ccA	p.P313P	NLRP2_ENST00000263437.6_Silent_p.P310P|NLRP2_ENST00000339757.7_Silent_p.P291P|NLRP2_ENST00000391721.4_Silent_p.P289P|NLRP2_ENST00000537859.1_Silent_p.P291P|NLRP2_ENST00000538819.1_Silent_p.P289P|NLRP2_ENST00000448584.2_Silent_p.P313P|NLRP2_ENST00000427260.2_Silent_p.P290P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	313	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)		AGAAGAAGCCGGTGCCCGTCC	0.632													54	202					0	0	1	0	0	A	55494005	G	A	55494005	2	1	13	1	0	0	0	0	0	0	0	1	10524	1103	39	1		1	NLRP2	19	55494005	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	1849619	55494005	3634978	84	1176											
BMP2	650	broad.mit.edu	37	chr20	6758933	6758933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacgagtgggaaaacaaccCggagattcttctttaattta	8	7	2	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:6758933C>T	ENST00000378827.4	+	3	1607	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	130					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)	GAAAACAACCCGGAGATTCTT	0.388													14	195					0	0	1	0	0	T	6758933	C	T	6758933	3	4	13	1	0	0	0	0	1	0	0	0	1458	643	23	1	394	1	BMP2	20	6758933	Missense_Mutation	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08		6758933	56266587	85	1177											
ZNF337	26152	broad.mit.edu	37	chr20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-													cacacataggacttctctccTgtgtgtgtgttctggtgcaa							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)afs	p.T231fs	RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000455791.1_RNA					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						ACTTCTCTCCTGTGTGTGTGTT	0.51													8	310	---	---	---	---						-	25657232	TG	-	25657231	7	5	13	1	0	1	0	1	0	0	0	0	17910	1567	55	0	1566	0	ZNF337	20	25657231	Frame_Shift_Del	DEL	TG	TCGA-H8-A6C1-01A-11D-A32N-08	18898298	25657231	37368289	86	1178											
IFNGR2	3460	broad.mit.edu	37	chr21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-													tcgctgatacctccacggccTttttttgttattatgtccat							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)ttfs	p.F173fs	IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													8	955	---	---	---	---						-	34799292	T	-	34799292	7	5	13	1	0	1	0	1	0	0	0	0	7594	1609	56	0	528	0	IFNGR2	21	34799292	Frame_Shift_Del	DEL	T	TCGA-H8-A6C1-01A-11D-A32N-08		34799292	13330603	87	1179											
MORC3	23515	broad.mit.edu	37	chr21	37741700	37741700	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtagaagctgaagcaaagatAcatgaaacccaggaaaccac	9	9	0	4			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr21:37741700A>T	ENST00000400485.1	+	15	2110	c.2034A>T	c.(2032-2034)atA>atT	p.I678I	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	678					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						AAGCAAAGATACATGAAACCC	0.413													27	162					0	0	1	0	0	T	37741700	A	T	37741700	2	4	13	1	0	0	0	0	0	0	0	1	9752	381	14	5		5	MORC3	21	37741700	Silent	SNP	A	TCGA-H8-A6C1-01A-11D-A32N-08	2942408	37741700	10388195	88	1180											
SGSM1	129049	broad.mit.edu	37	chr22	25280108	25280108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtctccagacttgccctgCgatgctggacagggactgac	13	12	1	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:25280108C>T	ENST00000400358.4	+	15	1641	c.1584C>T	c.(1582-1584)tgC>tgT	p.C528C	SGSM1_ENST00000400359.4_Silent_p.C583C	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	583						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						ACTTGCCCTGCGATGCTGGAC	0.582													26	113					0	0	1	0	0	T	25280108	C	T	25280108	2	4	13	1	0	0	0	0	0	0	0	1	14276	776	27	1		1	SGSM1	22	25280108	Silent	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08		25280108	26024458	89	1181											
TLR7	51284	broad.mit.edu	37	chrX	12906661	12906661	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaaggctctgtgggagttctGtccttgagtggccaacaaac	12	9	2	1			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chrX:12906661G>C	ENST00000380659.3	+	3	3173	c.3034G>C	c.(3034-3036)Gtc>Ctc	p.V1012L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	1012	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|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|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TGGGAGTTCTGTCCTTGAGTG	0.478													4	412					0	0	1	0	0	C	12906661	G	C	12906661	3	2	13	1	0	0	0	0	1	0	0	0	16016	1377	48	5	3040	5	TLR7	23	12906661	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08		12906661	142363899	90	1182											
RBBP7	5931	broad.mit.edu	37	chrX	16870947	16870947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttgacttcggcagtgtgCgcatccaccaagtgactcgg	12	12	0	2			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chrX:16870947C>T	ENST00000380087.2	-	7	1170	c.810G>A	c.(808-810)gcG>gcA	p.A270A	RBBP7_ENST00000404022.1_Silent_p.A261A|RBBP7_ENST00000380084.4_Silent_p.A314A			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	270					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)					CGGCAGTGTGCGCATCCACCA	0.502													5	343					0	0	1	0	0	T	16870947	C	T	16870947	2	4	13	1	0	0	0	0	0	0	0	1	13156	755	27	1		1	RBBP7	23	16870947	Silent	SNP	C	TCGA-H8-A6C1-01A-11D-A32N-08	3964286	16870947	138399613	91	1183											
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-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	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													5	302					0	0	1	0	0	A	109695238	G	A	109695238	3	1	13	1	0	0	0	0	1	0	0	0	13326	1087	38	1	1395	1	RGAG1	23	109695238	Missense_Mutation	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	92824291	109695238	45575322	92	1184											
MAMLD1	10046	broad.mit.edu	37	chrX	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-													gccactgccaccttgcagctGcagcagcagcagcagcaaca							TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctg>ct	p.LQ596del	MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	596	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)					CCTTgcagctgcagcagcagcag	0.611													7	230	---	---	---	---						-	149639635	GCA	-	149639633	7	5	13	1	0	1	0	1	0	0	0	0	9258	1306	46	0	1798	0	MAMLD1	23	149639633	In_Frame_Del	DEL	GCA	TCGA-H8-A6C1-01A-11D-A32N-08	39944395	149639633	5630927	93	1185											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													4	133					0	0	1	0	0	A	150156360	G	A	150156360	2	1	13	1	0	0	0	0	0	0	0	1	7268	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-H8-A6C1-01A-11D-A32N-08	516727	150156360	5114200	94	1186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	579					0	0	1	0	0	G	12779503	C	G	12779503	3	3	14	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	1187											
PAQR7	164091	broad.mit.edu	37	chr1	26189404	26189404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagttgtgaggccagtgCgtgtgcagaggctcatagat	15	6	1	3	rs146789461	by1000genomes	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:26189404C>T	ENST00000374296.3	-	2	1593	c.927G>A	c.(925-927)acG>acA	p.T309T	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	309					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)		GAGGCCAGTGCGTGTGCAGAG	0.577													5	294					0	0	1	0	0	T	26189404	C	T	26189404	2	4	14	1	0	0	0	0	0	0	0	1	11487	755	27	1		1	PAQR7	1	26189404	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	13409901	26189404	223061217	2	1188											
UBXN11	91544	broad.mit.edu	37	chr1	26608892	26608892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggccgggaccgggaccGggacagggaccaggactgaa	19	11	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:26608892G>A	ENST00000314675.7	-	11	1180	c.1101C>T	c.(1099-1101)ccC>ccT	p.P367P	UBXN11_ENST00000374223.1_Silent_p.P244P|UBXN11_ENST00000374217.2_Silent_p.P454P|UBXN11_ENST00000357089.4_Silent_p.P454P|UBXN11_ENST00000374221.3_Silent_p.P487P|UBXN11_ENST00000374222.1_Silent_p.P487P	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	487						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gaccgggaccgggacagggac	0.716													5	319					0	0	1	0	0	A	26608892	G	A	26608892	2	1	14	1	0	0	0	0	0	0	0	1	16973	1103	39	1		1	UBXN11	1	26608892	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	419488	26608892	222641729	3	1189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373104.1_Missense_Mutation_p.V178M|CSF3R_ENST00000373106.1_Missense_Mutation_p.V178M|CSF3R_ENST00000440588.2_Missense_Mutation_p.V178M|CSF3R_ENST00000338937.5_Missense_Mutation_p.V178M|CSF3R_ENST00000331941.5_Missense_Mutation_p.V178M|CSF3R_ENST00000361632.4_Missense_Mutation_p.V178M|CSF3R_ENST00000418048.2_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													47	183					0	0	1	0	0	T	36939177	C	T	36939177	3	4	14	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	10330285	36939177	212311444	4	1190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	268					0	0	1	0	0	G	37947303	A	G	37947303	3	3	14	1	0	0	0	0	1	0	0	0	17620	217	8	3	695	3	ZC3H12A	1	37947303	Missense_Mutation	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	1008126	37947303	211303318	5	1191											
ZNF644	84146	broad.mit.edu	37	chr1	91406039	91406040	+	Frame_Shift_Ins	INS	-	-	T													tacatccatttttcgctttcINStttttttttctagacctatt							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:91406039_91406040insT	ENST00000370440.1	-	3	1088_1089	c.871_872insA	c.(871-873)aaafs	p.K291fs	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.K291fs|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	291					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)		TTTTCGCTTTCTTTTTTTTTCT	0.337													8	200	---	---	---	---						T	91406040	-	T	91406039	7	5	14	1	0	1	1	0	0	0	0	0	18117	913	32	0	3127	0	ZNF644	1	91406039	Frame_Shift_Ins	INS	-	TCGA-HV-A7OL-01A-11D-A33T-08	53458736	91406039	157844582	6	1192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	247					0	0	1	0	0	T	120438703	C	T	120438703	3	4	14	1	0	0	0	0	1	0	0	0	247	884	31	1	2119	1	ADAM30	1	120438703	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	29032664	120438703	128811918	7	1193											
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-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	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_ENST00000606391.1_Missense_Mutation_p.A47T|SHC1_ENST00000368445.5_Missense_Mutation_p.A246T|SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000368453.4_Missense_Mutation_p.A136T	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													7	1044					0	0	1	0	0	T	154940985	C	T	154940985	3	4	14	1	0	0	0	0	1	0	0	0	14325	768	27	1	1054	1	SHC1	1	154940985	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	34502282	154940985	94309636	8	1194											
HSD17B7	51478	broad.mit.edu	37	chr1	162769681	162769681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacagctcttccaaatatgCcactgaccttttgagtgtgg	8	11	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:162769681C>T	ENST00000367917.3	+	5	664	c.596C>T	c.(595-597)gCc>gTc	p.A199V	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.A199V			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	199					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	TCCAAATATGCCACTGACCTT	0.483													4	140					0	0	1	0	0	T	162769681	C	T	162769681	3	4	14	1	0	0	0	0	1	0	0	0	7429	739	26	2	614	2	HSD17B7	1	162769681	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	7828696	162769681	86480940	9	1195											
INTS7	25896	broad.mit.edu	37	chr1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-													accgtgtgtaggcattgcgtTgctgctgctgctgtaatggc							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)caa>ca	p.QQ954del	INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del	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	954	Gln-rich.				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)		GGCATTGCGTTGCTGCTGCTGCT	0.443													7	560	---	---	---	---						-	212115193	TGC	-	212115191	7	5	14	1	0	1	0	1	0	0	0	0	7827	1812	63	0	28	0	INTS7	1	212115191	In_Frame_Del	DEL	TGC	TCGA-HV-A7OL-01A-11D-A33T-08	49345510	212115191	37135430	10	1196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.L677L	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													58	290					0	0	1	0	0	T	222802593	C	T	222802593	2	4	14	1	0	0	0	0	0	0	0	1	9614	900	32	2		2	MIA3	1	222802593	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	10687402	222802593	26448028	11	1197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	294					2.17888e-05	2.29289e-05	1	1	0	A	248004586	C	A	248004586	3	1	14	1	0	0	0	0	1	0	0	0	10978	710	25	2	359	2	OR11L1	1	248004586	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	25201993	248004586	1246035	12	1198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	317					0	0	1	0	0	T	10583672	C	T	10583672	3	4	14	1	0	0	0	0	1	0	0	0	10873	884	31	1	799	1	ODC1	2	10583672	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		10583672	232615701	13	1199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000452935.2_Missense_Mutation_p.A462V|ATL2_ENST00000419554.2_Missense_Mutation_p.A480V|ATL2_ENST00000402054.1_Missense_Mutation_p.A309V|ATL2_ENST00000546051.1_Missense_Mutation_p.A309V|ATL2_ENST00000332337.4_Missense_Mutation_p.A462V|ATL2_ENST00000539122.1_Missense_Mutation_p.A309V	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													5	289					0	0	1	0	0	A	38525479	G	A	38525479	3	1	14	1	0	0	0	0	1	0	0	0	1106	1087	38	1	432	1	ATL2	2	38525479	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	27941807	38525479	204673894	14	1200											
ZFP36L2	678	broad.mit.edu	37	chr2	43452623	43452623	+	Frame_Shift_Del	DEL	C	C	-													tgagcagggctgtgccgccgCcccccgacggctccttaagg							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:43452623delC	ENST00000282388.3	-	2	613	c.320delG	c.(319-321)gcfs	p.G109fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	109	Poly-Gly.				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)				TGTGCCGCCGCCCCCCGACGG	0.692													16	93	---	---	---	---						-	43452623	C	-	43452623	7	5	14	1	0	1	0	1	0	0	0	0	17705	739	26	0	1168	0	ZFP36L2	2	43452623	Frame_Shift_Del	DEL	C	TCGA-HV-A7OL-01A-11D-A33T-08	4927144	43452623	199746750	15	1201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	174					0	0	1	0	0	T	54120082	A	T	54120082	3	4	14	1	0	0	0	0	1	0	0	0	12758	14	1	5	1521	5	PSME4	2	54120082	Missense_Mutation	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	10667459	54120082	189079291	16	1202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	647					0	0	1	0	0	A	99226304	G	A	99226304	3	1	14	1	0	0	0	0	1	0	0	0	17050	1117	39	1	84	1	UNC50	2	99226304	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	45106222	99226304	143973069	17	1203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	331					0	0	1	0	0	C	171818252	A	C	171818252	2	2	14	1	0	0	0	0	0	0	0	1	6615	204	8	3		3	GORASP2	2	171818252	Silent	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	72591948	171818252	71381121	18	1204											
BCS1L	617	broad.mit.edu	37	chr2	219525979	219525979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcagcatgagagtggccGcatttccactaagtttgaat	9	10	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:219525979G>A	ENST00000431802.1	+	2	968	c.269G>A	c.(268-270)cGc>cAc	p.R90H	BCS1L_ENST00000359273.3_Missense_Mutation_p.R90H|BCS1L_ENST00000392111.2_Missense_Mutation_p.R90H|BCS1L_ENST00000392109.1_Missense_Mutation_p.R90H|BCS1L_ENST00000392110.2_Missense_Mutation_p.R90H|BCS1L_ENST00000439945.1_Missense_Mutation_p.R90H|BCS1L_ENST00000412366.1_Missense_Mutation_p.R90H			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)		GAGAGTGGCCGCATTTCCACT	0.527													5	567					0	0	1	0	0	A	219525979	G	A	219525979	3	1	14	1	0	0	0	0	1	0	0	0	1387	1087	38	1	271	1	BCS1L	2	219525979	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	47707727	219525979	23673394	19	1205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	170					3.94638e-17	4.38217e-17	1	1	0	T	228855826	G	T	228855826	3	4	14	1	0	0	0	0	1	0	0	0	15104	1203	42	2	261	2	SPHKAP	2	228855826	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	9329847	228855826	14343547	20	1206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	357					0	0	1	0	0	C	45153640	T	C	45153640	3	2	14	1	0	0	0	0	1	0	0	0	3115	1696	59	3	1956	3	CDCP1	3	45153640	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08		45153640	152868790	21	1207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	196					0	0	1	0	0	A	52551596	G	A	52551596	3	1	14	1	0	0	0	0	1	0	0	0	15293	1116	39	1	4768	1	STAB1	3	52551596	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	7397956	52551596	145470834	22	1208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	237					0	0	1	0	0	A	101446386	G	A	101446386	5	1	14	1	0	0	0	0	0	0	1	0	3285	1275	44	2	356	2	CEP97	3	101446386	Splice_Site	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	48894790	101446386	96576044	23	1209											
ATR	545	broad.mit.edu	37	chr3	142226865	142226865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtgtgtatgctttggagcGaaaggaagctactgccagag	14	7	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:142226865G>A	ENST00000350721.4	-	28	5060	c.4939C>T	c.(4939-4941)Cgc>Tgc	p.R1647C	ATR_ENST00000383101.3_Missense_Mutation_p.R1583C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1647	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						GCTTTGGAGCGAAAGGAAGCT	0.383								Other conserved DNA damage response genes					4	222					0	0	1	0	0	A	142226865	G	A	142226865	3	1	14	1	0	0	0	0	1	0	0	0	1202	1058	37	1	3075	1	ATR	3	142226865	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	40780479	142226865	55795565	24	1210											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	392					0	0	1	0	0	A	154056055	G	A	154056055	2	1	14	1	0	0	0	0	0	0	0	1	6694	1103	39	1		1	GPR149	3	154056055	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	11829190	154056055	43966375	25	1211											
ECE2	9718	broad.mit.edu	37	chr3	184008443	184008443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcccccttctatgcccGcaaccaccccaagtgtgtct	8	18	2	0	rs144993832	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:184008443G>A	ENST00000402825.3	+	15	2108	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H	ECE2_ENST00000359140.4_Missense_Mutation_p.R556H|ECE2_ENST00000357474.5_Missense_Mutation_p.R631H|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.R585H	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	703	Endothelin-converting enzyme 2 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)			TTCTATGCCCGCAACCACCCC	0.607													5	342					0	0	1	0	0	A	184008443	G	A	184008443	3	1	14	1	0	0	0	0	1	0	0	0	4916	1087	38	1	2730	1	ECE2	3	184008443	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	29952388	184008443	14013987	26	1212											
TMEM41A	90407	broad.mit.edu	37	chr3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A													aaagtctcaaaaacaataagINSaaaaaaaacaagctgtttct					rs150885877	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)tttfs	p.F156fs	TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						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)			AAAACAATAAGAAAAAAAACAA	0.446													8	507	---	---	---	---						A	185212518	-	A	185212517	7	5	14	1	0	1	1	0	0	0	0	0	16224	933	33	0	334	0	TMEM41A	3	185212517	Frame_Shift_Ins	INS	-	TCGA-HV-A7OL-01A-11D-A33T-08	1204074	185212517	12809913	27	1213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457772.2_5'UTR|ST6GAL1_ENST00000448044.1_Silent_p.L231L	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													20	167					0	0	1	0	0	C	186769122	G	C	186769122	2	2	14	1	0	0	0	0	0	0	0	1	15277	1277	45	5		5	ST6GAL1	3	186769122	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	1556605	186769122	11253308	28	1214											
MUC4	4585	broad.mit.edu	37	chr3	195481086	195481086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgttcccggctcacccGcacagtgccgcccatcccca	8	22	1	0	rs145047205		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:195481086G>A	ENST00000463781.3	-	19	15785	c.15326C>T	c.(15325-15327)gCg>gTg	p.A5109V	MUC4_ENST00000346145.4_Missense_Mutation_p.A873V|MUC4_ENST00000349607.4_Missense_Mutation_p.A822V|MUC4_ENST00000475231.1_Missense_Mutation_p.A5057V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1866					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)		CGGCTCACCCGCACAGTGCCG	0.617													5	507					0	0	1	0	0	A	195481086	G	A	195481086	3	1	14	1	0	0	0	0	1	0	0	0	10026	1087	38	1	940	1	MUC4	3	195481086	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	8711964	195481086	2541344	29	1215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T299S	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													6	321					0	0	1	0	0	A	195517556	T	A	195517556	3	1	14	1	0	0	0	0	1	0	0	0	10026	1725	60	5		5	MUC4	3	195517556	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	36470	195517556	2504874	30	1216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	436					3.24416e-54	3.64716e-54	1	1	0	A	71508260	C	A	71508260	3	1	14	1	0	0	0	0	1	0	0	0	5140	884	31	4	1147	4	ENAM	4	71508260	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		71508260	119646016	31	1217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	438					0	0	1	0	0	A	85715780	G	A	85715780	3	1	14	1	0	0	0	0	1	0	0	0	17330	1087	38	1	7393	1	WDFY3	4	85715780	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	14207520	85715780	105438496	32	1218											
CXXC4	80319	broad.mit.edu	37	chr4	105412465	105412467	+	In_Frame_Del	DEL	GCC	GCC	-													tggtgcatgctggtcctgctGccgccgccgccgccgccgcc							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:105412465_105412467delGCC	ENST00000394767.2	-	2	943_945	c.493_495delGGC	c.(493-495)del	p.G165del	AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000426831.1_5'UTR|CXXC4_ENST00000466963.1_Intron	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	0	Interaction with DVL1 (By similarity).				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)		TGGTCCTgctgccgccgccgccg	0.695													10	389	---	---	---	---						-	105412467	GCC	-	105412465	7	5	14	1	0	1	0	1	0	0	0	0	4121	1334	46	0		0	CXXC4	4	105412465	In_Frame_Del	DEL	GCC	TCGA-HV-A7OL-01A-11D-A33T-08	19696685	105412465	85741811	33	1219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000511297.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000416865.2_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|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380939.2_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													59	254					0	0	1	0	0	A	65288599	G	A	65288599	3	1	14	1	0	0	0	0	1	0	0	0	5235	1058	37	1	55	1	ERBB2IP	5	65288599	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08		65288599	115626661	34	1220											
PCSK1	5122	broad.mit.edu	37	chr5	95768674	95768674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattgccttttcgcttttgCactgttcagtgcacaccaag	7	11	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:95768674C>T	ENST00000311106.3	-	1	310	c.73G>A	c.(73-75)Gca>Aca	p.A25T	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	25					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)	TTCGCTTTTGCACTGTTCAGT	0.562													6	582					0	0	1	0	0	T	95768674	C	T	95768674	3	4	14	1	0	0	0	0	1	0	0	0	11647	710	25	2	2287	2	PCSK1	5	95768674	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	30480075	95768674	85146586	35	1221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_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)			CAGACTGCAGCGCTGGCACAA	0.647													101	427					0	0	1	0	0	T	140755802	C	T	140755802	3	4	14	1	0	0	0	0	1	0	0	0	11605	768	27	1	2154	1	PCDHGA6	5	140755802	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	44987128	140755802	40159458	36	1222											
BRPF3	27154	broad.mit.edu	37	chr6	36198280	36198280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaagatgctggaaggccGcaagaccagcatccgcaagt	12	12	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:36198280G>A	ENST00000357641.6	+	13	3765	c.3512G>A	c.(3511-3513)cGc>cAc	p.R1171H	BRPF3_ENST00000543502.1_Missense_Mutation_p.R901H|BRPF3_ENST00000443324.2_Missense_Mutation_p.R837H|BRPF3_ENST00000534400.1_3'UTR|BRPF3_ENST00000534694.1_Missense_Mutation_p.R837H|BRPF3_ENST00000339717.7_Missense_Mutation_p.R901H	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1171					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						CTGGAAGGCCGCAAGACCAGC	0.582													4	202					0	0	1	0	0	A	36198280	G	A	36198280	3	1	14	1	0	0	0	0	1	0	0	0	1523	1087	38	1	3558	1	BRPF3	6	36198280	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08		36198280	134916787	37	1223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	47					0	0	1	0	0	T	38690644	C	T	38690644	3	4	14	1	0	0	0	0	1	0	0	0	4634	551	19	1		1	DNAH8	6	38690644	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	2492364	38690644	132424423	38	1224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370479.3_Silent_p.Y347Y|FAM135A_ENST00000457062.2_Silent_p.Y347Y|FAM135A_ENST00000361499.3_Silent_p.Y364Y|FAM135A_ENST00000505868.1_Silent_p.Y364Y|FAM135A_ENST00000505769.1_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													83	212					0	0	1	0	0	T	71232278	C	T	71232278	2	4	14	1	0	0	0	0	0	0	0	1	5479	518	18	2		2	FAM135A	6	71232278	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	32541634	71232278	99882789	39	1225											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359203.2_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													6	678					0	0	1	0	0	A	90097155	G	A	90097155	2	1	14	1	0	0	0	0	0	0	0	1	13727	1195	42	2		2	RRAGD	6	90097155	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	18864877	90097155	81017912	40	1226											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111880692	111880693	+	Frame_Shift_Ins	INS	-	-	T													tcagcagccgcagcaggatgINSttttttttattcttgggcca							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:111880692_111880693insT	ENST00000368761.5	-	9	2091_2092	c.1613_1614insA	c.(1612-1614)aatfs	p.N538fs	TRAF3IP2_ENST00000368735.1_Frame_Shift_Ins_p.N82fs|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2_ENST00000392556.4_Frame_Shift_Ins_p.N126fs|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000340026.6_Frame_Shift_Ins_p.N547fs|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000359831.4_Frame_Shift_Ins_p.N537fs|TRAF3IP2_ENST00000368731.2_5'UTR	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	547	SEFIR.				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				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)		GCAGCAGGATGTTTTTTTTATT	0.55													9	408	---	---	---	---						T	111880693	-	T	111880692	7	5	14	1	0	1	1	0	0	0	0	0	16502	1368	48	0	87	0	TRAF3IP2	6	111880692	Frame_Shift_Ins	INS	-	TCGA-HV-A7OL-01A-11D-A33T-08	21783537	111880692	59234375	41	1227											
ARHGAP18	93663	broad.mit.edu	37	chr6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T													caggaatctggtactgtttgINSttttttttcctcaaggtctg							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aaafs	p.K163fs		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	163					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)		GGTACTGTTTGTTTTTTTTCCT	0.421													7	538	---	---	---	---						T	129959603	-	T	129959602	7	5	14	1	0	1	1	0	0	0	0	0	865	1368	48	0	1554	0	ARHGAP18	6	129959602	Frame_Shift_Ins	INS	-	TCGA-HV-A7OL-01A-11D-A33T-08	18078910	129959602	41155465	42	1228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000476845.1_Missense_Mutation_p.I8T|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													42	137					0	0	1	0	0	C	131894445	T	C	131894445	3	2	14	1	0	0	0	0	1	0	0	0	854	1406	49	3	25	3	ARG1	6	131894445	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	1934843	131894445	39220622	43	1229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								5	252					0	0	1	0	0	C	139206663	A	C	139206663	2	2	14	1	0	0	0	0	0	0	0	1	4928	204	8	3		3	ECT2L	6	139206663	Silent	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	7312218	139206663	31908404	44	1230											
EEPD1	80820	broad.mit.edu	37	chr7	36324335	36324335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatgggacgcggctgccgGcatggagctgagagacgcgg	18	11	0	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:36324335G>A	ENST00000242108.4	+	5	1800	c.1082G>A	c.(1081-1083)gGc>gAc	p.G361D	EEPD1_ENST00000534978.1_Missense_Mutation_p.G361D	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	361					DNA repair		DNA binding	p.G361D(1)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GCGGCTGCCGGCATGGAGCTG	0.657													6	556					0	0	1	0	0	A	36324335	G	A	36324335	3	1	14	1	0	0	0	0	1	0	0	0	4958	1203	42	2	1096	2	EEPD1	7	36324335	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08		36324335	122814328	45	1231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	229					1.07637e-12	1.1666e-12	1	1	0	T	53104235	G	T	53104235	3	4	14	1	0	0	0	0	1	0	0	0	12289	1319	46	2	873	2	POM121L12	7	53104235	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	16779900	53104235	106034428	46	1232											
MLXIPL	51085	broad.mit.edu	37	chr7	73008610	73008610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggctcacgtacttggccGgagagcgggcagagagcagt	17	9	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:73008610G>A	ENST00000313375.3	-	16	2481	c.2434C>T	c.(2434-2436)Cgg>Tgg	p.R812W	MLXIPL_ENST00000395189.1_Missense_Mutation_p.R719W|MLXIPL_ENST00000429400.2_Missense_Mutation_p.R793W|MLXIPL_ENST00000434326.1_Missense_Mutation_p.R718W|MLXIPL_ENST00000414749.2_Missense_Mutation_p.R810W|MLXIPL_ENST00000354613.1_Missense_Mutation_p.R791W	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	812					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)				GTACTTGGCCGGAGAGCGGGC	0.622													4	321					0	0	1	0	0	A	73008610	G	A	73008610	3	1	14	1	0	0	0	0	1	0	0	0	9685	1115	39	1	132	1	MLXIPL	7	73008610	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	19904375	73008610	86130053	47	1233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			80	290					0	0	1	0	0	T	94052353	C	T	94052353	4	4	14	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	21043743	94052353	65086310	48	1234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	97					0	0	1	0	0	T	100204241	C	T	100204241	3	4	14	1	0	0	0	0	1	0	0	0	11641	855	30	2	950	2	PCOLCE	7	100204241	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	6151888	100204241	58934422	49	1235											
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-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	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													5	484					0	0	1	0	0	A	143807373	G	A	143807373	3	1	14	1	0	0	0	0	1	0	0	0	11025	1087	38	1	700	1	OR2A2	7	143807373	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	43603132	143807373	15331290	50	1236											
RBM33	155435	broad.mit.edu	37	chr7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-													ccaggacagccgtttctgccCacacacacacagcccaacct							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccafs	p.PT571fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	571	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)		CGTTTCTGCCCACACACACACA	0.53													10	248	---	---	---	---						-	155531074	CA	-	155531073	7	5	14	1	0	1	0	1	0	0	0	0	13182	581	21	0	1755	0	RBM33	7	155531073	Frame_Shift_Del	DEL	CA	TCGA-HV-A7OL-01A-11D-A33T-08	11723700	155531073	3607590	51	1237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	238					0	0	1	0	0	A	2041801	G	A	2041801	3	1	14	1	0	0	0	0	1	0	0	0	10140	1145	40	1	2070	1	MYOM2	8	2041801	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08		2041801	144322221	52	1238											
PKHD1L1	93035	broad.mit.edu	37	chr8	110412530	110412530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacatcaagggtgatgaccGttatgctatttattttagcc	8	8	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr8:110412530G>A	ENST00000378402.5	+	13	1342	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	413					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)			GGTGATGACCGTTATGCTATT	0.368										HNSCC(38;0.096)			5	479					0	0	1	0	0	A	110412530	G	A	110412530	3	1	14	1	0	0	0	0	1	0	0	0	12020	1145	40	1	1288	1	PKHD1L1	8	110412530	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	108370729	110412530	35951492	53	1239											
ZNF7	7553	broad.mit.edu	37	chr8	146068363	146068363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtccacctttgtgagccGtaaaaaggttaatactataa	9	7	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr8:146068363G>A	ENST00000528372.1	+	5	2111	c.1871G>A	c.(1870-1872)cGt>cAt	p.R624H	ZNF7_ENST00000544249.1_Missense_Mutation_p.R528H|ZNF7_ENST00000325241.6_Missense_Mutation_p.R624H|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.R635H|ZNF7_ENST00000525266.1_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	624					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)		TTTGTGAGCCGTAAAAAGGTT	0.433													4	324					0	0	1	0	0	A	146068363	G	A	146068363	3	1	14	1	0	0	0	0	1	0	0	0	18158	1145	40	1	1885	1	ZNF7	8	146068363	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	35655833	146068363	295659	54	1240											
DMRT2	10655	broad.mit.edu	37	chr9	1056849	1056849	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtgaccttcagggtcatcAggctgtcccagagaggtccg	13	11	3	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:1056849A>G	ENST00000382251.3	+	5	1591	c.1262A>G	c.(1261-1263)cAg>cGg	p.Q421R	DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.Q421R|DMRT2_ENST00000358146.2_Missense_Mutation_p.Q421R|DMRT2_ENST00000259622.6_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	421					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)		CAGGGTCATCAGGCTGTCCCA	0.562													5	518					0	0	1	0	0	G	1056849	A	G	1056849	3	3	14	1	0	0	0	0	1	0	0	0	4614	188	7	3	1329	3	DMRT2	9	1056849	Missense_Mutation	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08		1056849	140156582	55	1241											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|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)			15	59					0	0	1	0	0	A	21971120	G	A	21971120	4	1	14	1	0	0	0	0	0	1	0	0	3183	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	20914271	21971120	119242311	56	1242											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	327					0	0	1	0	0	C	79438590	T	C	79438590	2	2	14	1	0	0	0	0	0	0	0	1	12690	1538	54	3		3	PRUNE2	9	79438590	Silent	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	57467470	79438590	61774841	57	1243											
NR4A3	0	broad.mit.edu	37	chr9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-													cgcccagctaccatcaccatCaccaccaccaccaccaccac							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:102590616_102590618delCAC	ENST00000330847.1	+	2	369_371	c.325_327delCAC	c.(325-327)del	p.H119del	NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del|NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108					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)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma								13	205	---	---	---	---						-	102590618	CAC	-	102590616	7	5	14	1	0	1	0	1	0	0	0	0	10682	826	29	0	331	0	NR4A3	9	102590616	In_Frame_Del	DEL	CAC	TCGA-HV-A7OL-01A-11D-A33T-08	23152026	102590616	38622815	58	1244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Missense_Mutation_p.G442D|FIBCD1_ENST00000372337.2_Missense_Mutation_p.G284D	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													5	322					0	0	1	0	0	T	133779512	C	T	133779512	3	4	14	1	0	0	0	0	1	0	0	0	5917	739	26	2	64	2	FIBCD1	9	133779512	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	31188896	133779512	7433919	59	1245											
CEL	1056	broad.mit.edu	37	chr9	135941982	135941982	+	Frame_Shift_Del	DEL	G	G	-													agaggaatatcgcggccttcGggggggaccccaacaacatc							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:135941982delG	ENST00000372080.4	+	5	629	c.613delG	c.(613-615)ggfs	p.G206fs	CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	203					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)		CGCGGCCTTCGGGGGGGACCC	0.642													7	751	---	---	---	---						-	135941982	G	-	135941982	7	5	14	1	0	1	0	1	0	0	0	0	3231	1116	39	0	631	0	CEL	9	135941982	Frame_Shift_Del	DEL	G	TCGA-HV-A7OL-01A-11D-A33T-08	2162470	135941982	5271449	60	1246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	91					0	0	1	0	0	A	137593148	G	A	137593148	3	1	14	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	1651166	137593148	3620283	61	1247											
GRIN1	2902	broad.mit.edu	37	chr9	140056884	140056886	+	In_Frame_Del	DEL	GAG	GAG	-													gccggttcaaggtgaacagcGaggaggaggaggaggacgca							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:140056884_140056886delGAG	ENST00000371561.3	+	13	2877_2879	c.1780_1782delGAG	c.(1780-1782)del	p.E598del	GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000350902.5_In_Frame_Del_p.E598del|GRIN1_ENST00000371546.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371555.4_In_Frame_Del_p.E619del|GRIN1_ENST00000315048.3_In_Frame_Del_p.E598del|GRIN1_ENST00000371559.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371560.3_In_Frame_Del_p.E619del|GRIN1_ENST00000371553.3_In_Frame_Del_p.E619del|GRIN1_ENST00000371550.4_In_Frame_Del_p.E598del	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	598					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)	GGTGAACAGCGAGGAGGAGGAGG	0.739													7	173	---	---	---	---						-	140056886	GAG	-	140056884	7	5	14	1	0	1	0	1	0	0	0	0	6819	1059	37	0	1897	0	GRIN1	9	140056884	In_Frame_Del	DEL	GAG	TCGA-HV-A7OL-01A-11D-A33T-08	2463736	140056884	1156547	62	1248											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409049.3_Missense_Mutation_p.D230N|ARMC3_ENST00000409983.3_Missense_Mutation_p.D230N|ARMC3_ENST00000376528.4_Intron	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													23	80					0	0	1	0	0	A	23250963	G	A	23250963	3	1	14	1	0	0	0	0	1	0	0	0	951	942	33	2	710	2	ARMC3	10	23250963	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08		23250963	112283784	63	1249											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43650929	43650929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatggcataggctatcagaGcaacaaagagcaagcaccta	9	9	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:43650929G>A	ENST00000374466.3	+	2	667	c.332G>A	c.(331-333)aGc>aAc	p.S111N	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.S111N	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	111					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						GGCTATCAGAGCAACAAAGAG	0.423													4	195					0	0	1	0	0	A	43650929	G	A	43650929	3	1	14	1	0	0	0	0	1	0	0	0	3964	971	34	2	334	2	CSGALNACT2	10	43650929	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	20399966	43650929	91883818	64	1250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000607131.1_Missense_Mutation_p.A171V|DUSP13_ENST00000372700.3_Missense_Mutation_p.A128V|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000472493.2_Missense_Mutation_p.A78V|DUSP13_ENST00000605915.1_Missense_Mutation_p.A100V|DUSP13_ENST00000478873.2_Missense_Mutation_p.A214V|DUSP13_ENST00000464872.1_Missense_Mutation_p.A78V	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													6	516					0	0	1	0	0	A	76855494	G	A	76855494	3	1	14	1	0	0	0	0	1	0	0	0	4839	1203	42	2	371	2	DUSP13	10	76855494	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	33204565	76855494	58679253	65	1251											
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-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:105363099G>A	ENST00000369774.4	-	15	2152	c.1876C>T	c.(1876-1878)Cgg>Tgg	p.R626W	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R493W|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R598W|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													5	548					0	0	1	0	0	A	105363099	G	A	105363099	3	1	14	1	0	0	0	0	1	0	0	0	14311	1115	39	1	1529	1	SH3PXD2A	10	105363099	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	28507605	105363099	30171648	66	1252											
KNDC1	85442	broad.mit.edu	37	chr10	135025268	135025268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgagggcaaccctcgcgGcacagacctggagaacccca	13	16	0	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:135025268G>A	ENST00000304613.3	+	23	4163	c.4142G>A	c.(4141-4143)gGc>gAc	p.G1381D	KNDC1_ENST00000368572.2_Missense_Mutation_p.G1383D			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1381					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)		AACCCTCGCGGCACAGACCTG	0.662													5	165					0	0	1	0	0	A	135025268	G	A	135025268	3	1	14	1	0	0	0	0	1	0	0	0	8469	1203	42	2	4232	2	KNDC1	10	135025268	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	29662169	135025268	509479	67	1253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	173					0	0	1	0	0	G	57466302	A	G	57466302	3	3	14	1	0	0	0	0	1	0	0	0	17676	101	4	3	1432	3	ZDHHC5	11	57466302	Missense_Mutation	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08		57466302	77540214	68	1254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000426142.2_Intron|CTNND1_ENST00000526357.1_5'UTR|CTNND1_ENST00000532649.1_5'UTR|CTNND1_ENST00000361332.4_Missense_Mutation_p.E42K|CTNND1_ENST00000532844.1_5'UTR|CTNND1_ENST00000399050.4_Missense_Mutation_p.E42K|CTNND1_ENST00000415361.2_Intron|CTNND1_ENST00000532787.1_Intron|CTNND1_ENST00000399039.4_Missense_Mutation_p.E42K|CTNND1_ENST00000529873.1_5'UTR|CTNND1_ENST00000530748.1_5'UTR|CTNND1_ENST00000534579.1_5'UTR|CTNND1_ENST00000528621.1_5'UTR|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000532463.1_Intron|CTNND1_ENST00000361796.4_Missense_Mutation_p.E42K|CTNND1_ENST00000526938.1_Missense_Mutation_p.E42K|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000360682.6_Missense_Mutation_p.E42K|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000361391.6_Missense_Mutation_p.E42K|CTNND1_ENST00000529526.1_5'UTR|CTNND1_ENST00000530094.1_Intron|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000529986.1_Intron|RP11-691N7.6_ENST00000531074.1_3'UTR|CTNND1_ENST00000529919.1_Missense_Mutation_p.E42K|CTNND1_ENST00000358694.6_Missense_Mutation_p.E42K|CTNND1_ENST00000428599.2_Missense_Mutation_p.E42K|CTNND1_ENST00000526772.1_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													29	137					0	0	1	0	0	A	57559074	G	A	57559074	3	1	14	1	0	0	0	0	1	0	0	0	4043	1175	41	2	126	2	CTNND1	11	57559074	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	92772	57559074	77447442	69	1255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	185					0	0	1	0	0	A	64666137	G	A	64666137	3	1	14	1	0	0	0	0	1	0	0	0	1092	1086	38	1	1214	1	ATG2A	11	64666137	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	7107063	64666137	70340379	70	1256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526281.1_3'UTR|SYT12_ENST00000527043.1_Missense_Mutation_p.R94H|SYT12_ENST00000525457.1_Missense_Mutation_p.R94H			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													6	581					0	0	1	0	0	A	66807334	G	A	66807334	3	1	14	1	0	0	0	0	1	0	0	0	15525	1087	38	1	291	1	SYT12	11	66807334	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	2141197	66807334	68199182	71	1257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_Missense_Mutation_p.E170G	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)	174	793					0	0	1	0	0	C	85375165	T	C	85375165	3	2	14	1	0	0	0	0	1	0	0	0	3886	1551	54	3	313	3	CREBZF	11	85375165	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	18567831	85375165	49631351	72	1258											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000401611.2_Silent_p.G293G|NCAM1_ENST00000533760.1_Silent_p.G176G|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	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													11	51					0	0	1	0	0	T	113078690	C	T	113078690	2	4	14	1	0	0	0	0	0	0	0	1	10249	755	27	1		1	NCAM1	11	113078690	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	27703525	113078690	21927826	73	1259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				4	319					0	0	1	0	0	C	119148958	T	C	119148958	3	2	14	1	0	0	0	0	1	0	0	0	2718	1493	52	3	1208	3	CBL	11	119148958	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	6070268	119148958	15857558	74	1260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	170					0.150653	0.152337	1	1	0	A	119230302	C	A	119230302	3	1	14	1	0	0	0	0	1	0	0	0	17111	738	26	2	963	2	USP2	11	119230302	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	81344	119230302	15776214	75	1261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)			13	50					0	0	1	0	0	T	25398284	C	T	25398284	3	4	14	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		25398284	108453611	76	1262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	140					0	0	1	0	0	C	76791663	T	C	76791663	2	2	14	1	0	0	0	0	0	0	0	1	11330	1741	61	3		3	OSBPL8	12	76791663	Silent	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	51393379	76791663	57060232	77	1263											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.R170Q|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R590Q	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													116	457					0	0	1	0	0	T	99640630	C	T	99640630	3	4	14	1	0	0	0	0	1	0	0	0	683	884	31	1	2321	1	ANKS1B	12	99640630	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	22848967	99640630	34211265	78	1264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	39					3.09899e-07	3.31903e-07	1	1	0	A	111758041	C	A	111758041	3	1	14	1	0	0	0	0	1	0	0	0	4088	739	26	2	2294	2	CUX2	12	111758041	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	12117411	111758041	22093854	79	1265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	276					0	0	1	0	0	T	131487822	C	T	131487822	2	4	14	1	0	0	0	0	0	0	0	1	6683	639	23	1		1	GPR133	12	131487822	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	19729781	131487822	2364073	80	1266											
USPL1	10208	broad.mit.edu	37	chr13	31232528	31232528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggggtgcttcttttatgCcactctgtgtttcagctcat	10	10	4	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr13:31232528C>T	ENST00000255304.4	+	9	2656	c.2314C>T	c.(2314-2316)Cca>Tca	p.P772S		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	772					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)		TTCTTTTATGCCACTCTGTGT	0.348													5	491					0	0	1	0	0	T	31232528	C	T	31232528	3	4	14	1	0	0	0	0	1	0	0	0	17152	739	26	2	2344	2	USPL1	13	31232528	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		31232528	83937350	81	1267											
FOXO1	2308	broad.mit.edu	37	chr13	41134023	41134023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggggcaggggacgcccGttaactgcagatgtctgctg	17	9	1	1	rs140973984		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr13:41134023G>A	ENST00000379561.5	-	2	1989	c.1605C>T	c.(1603-1605)aaC>aaT	p.N535N		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	535					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|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		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GGGGACGCCCGTTAACTGCAG	0.572													6	574					0	0	1	0	0	A	41134023	G	A	41134023	2	1	14	1	0	0	0	0	0	0	0	1	6057	1136	40	1		1	FOXO1	13	41134023	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	9901495	41134023	74035855	82	1268											
DIAPH3	81624	broad.mit.edu	37	chr13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T													aatacaaaaaaatctgtcaaINStttttttttcttcaccagct							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)tgafs	p.*320fs	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	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)		AAATCTGTCAATTTTTTTTTCT	0.322													7	387	---	---	---	---						T	60582734	-	T	60582733	7	5	14	1	0	1	1	0	0	0	0	0	4548	101	4	0	2722	0	DIAPH3	13	60582733	Frame_Shift_Ins	INS	-	TCGA-HV-A7OL-01A-11D-A33T-08	19448710	60582733	54587145	83	1269											
FAM155A	728215	broad.mit.edu	37	chr13	108518659	108518661	+	In_Frame_Del	DEL	GCT	GCT	-													ggagggctcctgctgccgccGctgctgctgctgctgctgcc							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr13:108518659_108518661delGCT	ENST00000375915.2	-	1	422_424	c.284_286delAGC	c.(283-288)cgg>c	p.QR95del		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	95	Poly-Gln.					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						tgctgccgccgctgctgctgctg	0.734													7	162	---	---	---	---						-	108518661	GCT	-	108518659	7	5	14	1	0	1	0	1	0	0	0	0	5495	1086	38	0	1102	0	FAM155A	13	108518659	In_Frame_Del	DEL	GCT	TCGA-HV-A7OL-01A-11D-A33T-08	47935926	108518659	6651219	84	1270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	77					0	0	1	0	0	T	110434482	C	T	110434482	3	4	14	1	0	0	0	0	1	0	0	0	7885	652	23	1	105	1	IRS2	13	110434482	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	1915823	110434482	4735396	85	1271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	519					0	0	1	0	0	A	81743580	G	A	81743580	3	1	14	1	0	0	0	0	1	0	0	0	15374	1145	40	1	648	1	STON2	14	81743580	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08		81743580	25605960	86	1272											
HERC2	8924	broad.mit.edu	37	chr15	28421858	28421858	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggtcagagccagggtctgCgcgtctctactcccacatgc	11	15	3	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:28421858C>T	ENST00000261609.7	-	62	9597	c.9489G>A	c.(9487-9489)gcG>gcA	p.A3163A		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3163					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)		CCAGGGTCTGCGCGTCTCTAC	0.493													6	824					0	0	1	0	0	T	28421858	C	T	28421858	2	4	14	1	0	0	0	0	0	0	0	1	7099	755	27	1		1	HERC2	15	28421858	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		28421858	74109534	87	1273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	235					0	0	1	0	0	T	33954961	C	T	33954961	3	4	14	1	0	0	0	0	1	0	0	0	13822	875	31	1	5368	1	RYR3	15	33954961	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	5533103	33954961	68576431	88	1274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	397					0	0	1	0	0	C	34130099	T	C	34130099	3	2	14	1	0	0	0	0	1	0	0	0	13822	1464	51	3	12272	3	RYR3	15	34130099	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	175138	34130099	68401293	89	1275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424560.1_Missense_Mutation_p.V185I|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Missense_Mutation_p.V185I|MYO9A_ENST00000444904.1_Missense_Mutation_p.V185I|MYO9A_ENST00000563542.1_5'UTR	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													47	201					0	0	1	0	0	T	72338352	C	T	72338352	3	4	14	1	0	0	0	0	1	0	0	0	10132	565	20	2	7257	2	MYO9A	15	72338352	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	38208253	72338352	30193040	90	1276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	193					0	0	1	0	0	T	703653	C	T	703653	2	4	14	1	0	0	0	0	0	0	0	1	17397	535	19	1		1	WDR90	16	703653	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		703653	89651100	91	1277											
BAIAP3	8938	broad.mit.edu	37	chr16	1397935	1397935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgtggagctgggcccaccGcatctctttccactggtccg	11	15	1	0	rs143470802		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:1397935G>A	ENST00000324385.5	+	32	3329	c.3171G>A	c.(3169-3171)ccG>ccA	p.P1057P	BAIAP3_ENST00000426824.3_Silent_p.P1022P|BAIAP3_ENST00000568887.1_Silent_p.P994P|BAIAP3_ENST00000562208.1_Silent_p.P999P|BAIAP3_ENST00000397488.2_Silent_p.P1039P|BAIAP3_ENST00000397489.1_Silent_p.P1039P|BAIAP3_ENST00000421665.2_Silent_p.P986P	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1057	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)				TGGGCCCACCGCATCTCTTTC	0.627													5	475					0	0	1	0	0	A	1397935	G	A	1397935	2	1	14	1	0	0	0	0	0	0	0	1	1302	1074	38	1		1	BAIAP3	16	1397935	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	694282	1397935	88956818	92	1278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	162					0	0	1	0	0	T	2024605	C	T	2024605	3	4	14	1	0	0	0	0	1	0	0	0	15703	652	23	1	322	1	TBL3	16	2024605	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	626670	2024605	88330148	93	1279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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						32	133					0	0	1	0	0	T	3801767	C	T	3801767	3	4	14	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	94	1280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	C16orf71_ENST00000590191.1_Silent_p.A74A|RP11-127I20.7_ENST00000588099.1_RNA	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													4	232					1	1	1	1	0	A	4787893	C	A	4787893	2	1	14	1	0	0	0	0	0	0	0	1	1837	639	23	4		4	C16orf71	16	4787893	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	986126	4787893	85566860	95	1281											
NAGPA	51172	broad.mit.edu	37	chr16	5083678	5083679	+	Frame_Shift_Del	DEL	GC	GC	-													cgtgtgcagtcccgggggagGcgcgcgcgcgcgcgtggata							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:5083678_5083679delGC	ENST00000312251.3	-	2	156_157	c.137_138delGC	c.(136-138)cfs	p.R46fs	NAGPA_ENST00000564922.1_5'UTR|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	46					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)	CCCGGGGGAGGCGCGCGCGCGC	0.767													9	123	---	---	---	---						-	5083679	GC	-	5083678	7	5	14	1	0	1	0	1	0	0	0	0	10192	1190	42	0	1445	0	NAGPA	16	5083678	Frame_Shift_Del	DEL	GC	TCGA-HV-A7OL-01A-11D-A33T-08	295785	5083678	85271075	96	1282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	470					0	0	1	0	0	A	20976524	G	A	20976524	2	1	14	1	0	0	0	0	0	0	0	1	4631	1140	40	1		1	DNAH3	16	20976524	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	15892846	20976524	69378229	97	1283											
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-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	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													5	583					0	0	1	0	0	A	30616626	G	A	30616626	2	1	14	1	0	0	0	0	0	0	0	1	18150	1079	38	1		1	ZNF689	16	30616626	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	9640102	30616626	59738127	98	1284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000445888.2_Missense_Mutation_p.N131I|TP53_ENST00000413465.2_Missense_Mutation_p.N131I|TP53_ENST00000455263.2_Missense_Mutation_p.N131I|TP53_ENST00000269305.4_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)			34	89					0	0	1	0	0	A	7578538	T	A	7578538	3	1	14	1	0	0	0	0	1	0	0	0	16442	1725	60	5	906	5	TP53	17	7578538	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08		7578538	73616672	99	1285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:9684814C>T	ENST00000330255.4	-	2	264	c.252G>A	c.(250-252)gtG>gtA	p.V84V	DHRS7C_ENST00000571134.1_Silent_p.V84V	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	84						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TGGGGTCAGCCACGCTGATCA	0.552													31	113					0	0	1	0	0	T	9684814	C	T	9684814	2	4	14	1	0	0	0	0	0	0	0	1	4525	581	21	2		2	DHRS7C	17	9684814	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	2106276	9684814	71510396	100	1286											
AOC2	314	broad.mit.edu	37	chr17	40997800	40997800	+	Missense_Mutation	SNP	G	G	A													ggatagcagctttggactcgGccgtaacagccgaggcttgg							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:40997800G>A	ENST00000253799.3	+	1	1184	c.1157G>A	c.(1156-1158)gGc>gAc	p.G386D	AOC2_ENST00000452774.2_Missense_Mutation_p.G386D	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	386					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)		TTTGGACTCGGCCGTAACAGC	0.532													5	396					0	0	1	0	0	A	40997800	G	A	40997800	3	1	14	1	0	0	0	0	1	0	0	0	723	1203	42	2	1159	2	AOC2	17	40997800	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	31312986	40997800	40197410	101	1287	12	2									
AOC2	314	broad.mit.edu	37	chr17	40997803	40997803	+	Missense_Mutation	SNP	G	G	A													tagcagctttggactcggccGtaacagccgaggcttggtgc							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:40997803G>A	ENST00000253799.3	+	1	1187	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	AOC2_ENST00000452774.2_Missense_Mutation_p.R387H	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	387					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)		GGACTCGGCCGTAACAGCCGA	0.542													5	383					0	0	1	0	0	A	40997803	G	A	40997803	3	1	14	1	0	0	0	0	1	0	0	0	723	1145	40	1	1162	1	AOC2	17	40997803	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	3	40997803	40197407	102	1288	12	2									
PPP1R9B	84687	broad.mit.edu	37	chr17	48216665	48216665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatctctgcctcagtgaccGcatgcttgatctggagctgt	12	11	3	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:48216665G>A	ENST00000316878.6	-	9	2032	c.2030C>T	c.(2029-2031)gCg>gTg	p.A677V	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	677	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						CTCAGTGACCGCATGCTTGAT	0.602													5	566					0	0	1	0	0	A	48216665	G	A	48216665	3	1	14	1	0	0	0	0	1	0	0	0	12428	1087	38	1	433	1	PPP1R9B	17	48216665	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	7218862	48216665	32978545	103	1289											
VEZF1	7716	broad.mit.edu	37	chr17	56056587	56056589	+	In_Frame_Del	DEL	TGT	TGT	-													tccctggccagcttgtcacaTgttgttgttgttgttgttgc							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:56056587_56056589delTGT	ENST00000584396.1	-	5	1123_1125	c.1035_1037delACA	c.(1033-1038)cat>ca	p.QH345del	VEZF1_ENST00000581208.1_In_Frame_Del_p.QH354del			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	354	Poly-Gln.				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						GCTTGTCACAtgttgttgttgtt	0.473													27	838	---	---	---	---						-	56056589	TGT	-	56056587	7	5	14	1	0	1	0	1	0	0	0	0	17215	1464	51	0	509	0	VEZF1	17	56056587	In_Frame_Del	DEL	TGT	TCGA-HV-A7OL-01A-11D-A33T-08	7839922	56056587	25138623	104	1290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:56448270A>G	ENST00000584437.1	-	2	2331		c.e2+1		RNF43_ENST00000577716.1_Splice_Site|RNF43_ENST00000583753.1_Intron|RNF43_ENST00000577625.1_Splice_Site|RNF43_ENST00000581868.1_Splice_Site|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000407977.2_Splice_Site			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													88	182					0	0	1	0	0	G	56448270	A	G	56448270	5	3	14	1	0	0	0	0	0	0	1	0	13547	405	14	3	2006	3	RNF43	17	56448270	Splice_Site	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	391683	56448270	24746940	105	1291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr18:9255365T>C	ENST00000383440.2	+	8	2288	c.2031T>C	c.(2029-2031)ttT>ttC	p.F677F	ANKRD12_ENST00000400020.3_Silent_p.F677F|ANKRD12_ENST00000262126.3_Silent_p.F700F	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	700						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													3	117					0	0	1	0	0	C	9255365	T	C	9255365	2	2	14	1	0	0	0	0	0	0	0	1	636	1838	64	3		3	ANKRD12	18	9255365	Silent	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08		9255365	68821883	106	1292											
DSC1	1823	broad.mit.edu	37	chr18	28725666	28725666	+	Frame_Shift_Del	DEL	T	T	-													atctgggatttgttgtaagaTtttatatttcagacgagtat							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr18:28725666delT	ENST00000257197.3	-	7	1108	c.847delA	c.(847-849)tcfs	p.I283fs	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Frame_Shift_Del_p.I283fs	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	283	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)			TGTTGTAAGATTTTATATTTC	0.413													66	242	---	---	---	---						-	28725666	T	-	28725666	7	5	14	1	0	1	0	1	0	0	0	0	4791	1493	52	0	1917	0	DSC1	18	28725666	Frame_Shift_Del	DEL	T	TCGA-HV-A7OL-01A-11D-A33T-08	19470301	28725666	49351582	107	1293											
MRPL4	51073	broad.mit.edu	37	chr19	10367430	10367430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggtgcggggcggtggccGgaagccttggccgcagaaag	20	10	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:10367430G>A	ENST00000393733.2	+	5	401	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000590669.1_Missense_Mutation_p.R125Q|MRPL4_ENST00000307422.5_Missense_Mutation_p.R125Q|MRPL4_ENST00000253099.6_Missense_Mutation_p.R125Q|MRPL4_ENST00000588502.1_Missense_Mutation_p.R124Q			Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	125					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		GGCGGTGGCCGGAAGCCTTGG	0.687													5	527					0	0	1	0	0	A	10367430	G	A	10367430	3	1	14	1	0	0	0	0	1	0	0	0	9852	1116	39	1	392	1	MRPL4	19	10367430	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08		10367430	48761553	108	1294											
WDR88	126248	broad.mit.edu	37	chr19	33666419	33666421	+	In_Frame_Del	DEL	TCA	TCA	-													tgccagcagatacttcatcgTcatcatcatcatcggaaagg							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:33666419_33666421delTCA	ENST00000355868.3	+	11	1436_1438	c.1360_1362delTCA	c.(1360-1362)del	p.S458del	WDR88_ENST00000361680.2_3'UTR	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	458	Poly-Ser.									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)					TACTTCATCGTCATCATCATCAT	0.527													7	604	---	---	---	---						-	33666421	TCA	-	33666419	7	5	14	1	0	1	0	1	0	0	0	0	17395	1667	58	0	1402	0	WDR88	19	33666419	In_Frame_Del	DEL	TCA	TCGA-HV-A7OL-01A-11D-A33T-08	23298989	33666419	25462564	109	1295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589002.1_5'UTR|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589130.1_Missense_Mutation_p.C331R|MAP4K1_ENST00000396857.2_Missense_Mutation_p.C335R|MAP4K1_ENST00000586296.1_Splice_Site_p.C335_splice	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													31	74					0	0	1	0	0	G	39100239	A	G	39100239	3	3	14	1	0	0	0	0	1	0	0	0	9309	188	7	3	1640	3	MAP4K1	19	39100239	Missense_Mutation	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	5433820	39100239	20028744	110	1296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	727					0	0	1	0	0	T	42132119	C	T	42132119	3	4	14	1	0	0	0	0	1	0	0	0	3216	768	27	1	478	1	CEACAM4	19	42132119	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	3031880	42132119	16996864	111	1297											
NDUFA3	4696	broad.mit.edu	37	chr19	54611759	54611759	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcctagcggctggggaaaAgggccacaggatagagctca	14	10	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:54611759A>G	ENST00000391764.3	+	4	186	c.176A>G	c.(175-177)aAg>aGg	p.K59R	TFPT_ENST00000391759.1_Intron|TFPT_ENST00000391758.1_Intron|TFPT_ENST00000391757.1_Intron			O95167	NDUA3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa	60					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)	2	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)				NADH(DB00157)	GCTGGGGAAAAGGGCCACAGG	0.602													5	202					0	0	1	0	0	G	54611759	A	G	54611759	3	3	14	1	0	0	0	0	1	0	0	0	10312	87	3	3		3	NDUFA3	19	54611759	Missense_Mutation	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	12479640	54611759	4517224	112	1298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R71C|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|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													6	671					0	0	1	0	0	T	55284925	C	T	55284925	3	4	14	1	0	0	0	0	1	0	0	0	8359	768	27	1	221	1	KIR2DL1	19	55284925	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	673166	55284925	3844058	113	1299											
NLRP2	55655	broad.mit.edu	37	chr19	55505649	55505649	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttctaggctttggaactgCgacataactagcgatggctg	11	8	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:55505649C>T	ENST00000543010.1	+	11	2864	c.2721C>T	c.(2719-2721)tgC>tgT	p.C907C	NLRP2_ENST00000538819.1_Silent_p.C883C|NLRP2_ENST00000427260.2_Silent_p.C884C|NLRP2_ENST00000537859.1_Silent_p.C885C|NLRP2_ENST00000391721.4_Silent_p.C883C|NLRP2_ENST00000263437.6_Silent_p.C904C|NLRP2_ENST00000448584.2_Silent_p.C907C|NLRP2_ENST00000339757.7_Silent_p.C885C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	907					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)		TTTGGAACTGCGACATAACTA	0.478													5	361					0	0	1	0	0	T	55505649	C	T	55505649	2	4	14	1	0	0	0	0	0	0	0	1	10524	776	27	1		1	NLRP2	19	55505649	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	220724	55505649	3623334	114	1300											
TRIM28	10155	broad.mit.edu	37	chr19	59056897	59056897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaccgacgcccaggatgCgaaccaggtgcgtcctatct	11	15	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:59056897C>T	ENST00000253024.5	+	2	735	c.446C>T	c.(445-447)gCg>gTg	p.A149V	TRIM28_ENST00000341753.6_Intron	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	149	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)		GCCCAGGATGCGAACCAGGTG	0.572													4	304					0	0	1	0	0	T	59056897	C	T	59056897	3	4	14	1	0	0	0	0	1	0	0	0	16563	768	27	1	452	1	TRIM28	19	59056897	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	3551248	59056897	72086	115	1301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	104					0	0	1	0	0	A	4771183	G	A	4771183	3	1	14	1	0	0	0	0	1	0	0	0	13138	1058	37	1	553	1	RASSF2	20	4771183	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08		4771183	58254337	116	1302											
CPNE1	8904	broad.mit.edu	37	chr20	34214179	34214179	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacctaggcctggggggccTgtgcaggatccttggctgag	17	10	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:34214179T>C	ENST00000317619.3	-	18	1992	c.1598A>G	c.(1597-1599)cAg>cGg	p.Q533R	CPNE1_ENST00000397442.1_Missense_Mutation_p.Q477R|CPNE1_ENST00000397443.1_Missense_Mutation_p.Q533R|CPNE1_ENST00000397446.1_Missense_Mutation_p.Q533R|CPNE1_ENST00000352393.4_Missense_Mutation_p.Q533R|CPNE1_ENST00000397445.1_Missense_Mutation_p.Q533R|CPNE1_ENST00000317677.5_Missense_Mutation_p.Q538R			Q99829	CPNE1_HUMAN	copine I	533					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CTGGGGGGCCTGTGCAGGATC	0.622													6	684					0	0	1	0	0	C	34214179	T	C	34214179	3	2	14	1	0	0	0	0	1	0	0	0	3834	1580	55	3	19	3	CPNE1	20	34214179	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	29442996	34214179	28811341	117	1303											
ZNF217	7764	broad.mit.edu	37	chr20	52198226	52198226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggttctgaaagctttgccGcactcggagcagtgagtggg	15	8	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:52198226G>A	ENST00000371471.2	-	2	1565	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	ZNF217_ENST00000302342.3_Silent_p.C380C			O75362	ZN217_HUMAN	zinc finger protein 217	380					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)			AAGCTTTGCCGCACTCGGAGC	0.612													5	343					0	0	1	0	0	A	52198226	G	A	52198226	2	1	14	1	0	0	0	0	0	0	0	1	17830	1079	38	1		1	ZNF217	20	52198226	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	17984047	52198226	10827294	118	1304											
GNAS	2778	broad.mit.edu	37	chr20	57484598	57484598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgacgtgggtggccagCgcgatgaacgccgcaagtgg	17	9	0	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:57484598C>T	ENST00000371100.4	+	9	3163	c.2611C>T	c.(2611-2613)Cgc>Tgc	p.R871C	GNAS_ENST00000371102.4_Missense_Mutation_p.R857C|GNAS_ENST00000354359.7_Missense_Mutation_p.R229C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R214C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.R228C|GNAS_ENST00000371095.3_Missense_Mutation_p.R214C|GNAS_ENST00000265620.7_Missense_Mutation_p.R213C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	228					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)			GGGTGGCCAGCGCGATGAACG	0.517			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			4	197					0	0	1	0	0	T	57484598	C	T	57484598	3	4	14	1	0	0	0	0	1	0	0	0	6552	768	27	1	3533	1	GNAS	20	57484598	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	5286372	57484598	5540922	119	1305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	118					2.37509e-13	2.6054e-13	1	1	0	T	60883799	G	T	60883799	3	4	14	1	0	0	0	0	1	0	0	0	344	991	35	2	1240	2	ADRM1	20	60883799	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	3399201	60883799	2141721	120	1306	13	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	114					2.37509e-13	2.6054e-13	1	1	0	T	60883800	G	T	60883800	3	4	14	1	0	0	0	0	1	0	0	0	344	1174	41	2	1241	2	ADRM1	20	60883800	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	1	60883800	2141720	121	1307	13	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													142	674					0	0	1	0	0	T	62187669	C	T	62187669	3	4	14	1	0	0	0	0	1	0	0	0	2114	768	27	1	655	1	C20orf195	20	62187669	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	1303869	62187669	837851	122	1308											
TIAM1	7074	broad.mit.edu	37	chr21	32508274	32508274	+	Frame_Shift_Del	DEL	T	T	-													atgctgccaactctggttccTttttccacttgcccagcgag							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr21:32508274delT	ENST00000286827.3	-	24	4331	c.3860delA	c.(3859-3861)agfs	p.K1287fs	TIAM1_ENST00000541036.1_Frame_Shift_Del_p.K1227fs	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1287	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						CTCTGGTTCCTTTTTCCACTT	0.483													7	484	---	---	---	---						-	32508274	T	-	32508274	7	5	14	1	0	1	0	1	0	0	0	0	15950	1609	56	0	939	0	TIAM1	21	32508274	Frame_Shift_Del	DEL	T	TCGA-HV-A7OL-01A-11D-A33T-08		32508274	15621621	123	1309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr21:43543258A>C	ENST00000400427.1	+	16	3709	c.3313A>C	c.(3313-3315)Agc>Cgc	p.S1105R	UMODL1_ENST00000408989.2_Missense_Mutation_p.S1177R|UMODL1_ENST00000400424.1_Missense_Mutation_p.S977R|UMODL1_ENST00000408910.2_Missense_Mutation_p.S1049R|UMODL1_ENST00000400423.2_3'UTR	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1049	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						CCTCATGCAGAGCGTAAGACC	0.622													23	127					0	0	1	0	0	C	43543258	A	C	43543258	3	2	14	1	0	0	0	0	1	0	0	0	17040	304	11	3	3591	3	UMODL1	21	43543258	Missense_Mutation	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	11034984	43543258	4586637	124	1310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461286.2_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													5	350					0	0	1	0	0	T	29834846	C	T	29834846	2	4	14	1	0	0	0	0	0	0	0	1	13305	718	25	2		2	RFPL1	22	29834846	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		29834846	21469720	125	1311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373097.1_Silent_p.A15A|PCDH11X_ENST00000395337.2_Silent_p.A15A|PCDH11X_ENST00000361655.2_Silent_p.A15A|PCDH11X_ENST00000361724.1_Silent_p.A15A|PCDH11X_ENST00000373088.1_Silent_p.A15A|PCDH11X_ENST00000298274.8_Silent_p.A15A|PCDH11X_ENST00000504220.1_Silent_p.A15A|PCDH11X_ENST00000406881.1_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													4	141					0	0	1	0	0	G	91090548	A	G	91090548	2	3	14	1	0	0	0	0	0	0	0	1	11555	204	8	3		3	PCDH11X	23	91090548	Silent	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08		91090548	64180012	126	1312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373061.3_Missense_Mutation_p.L336R|DIAPH2_ENST00000355827.4_Missense_Mutation_p.L336R|DIAPH2_ENST00000373049.4_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													42	75					0	0	1	0	0	G	96185760	T	G	96185760	3	3	14	1	0	0	0	0	1	0	0	0	4547	1609	56	3	1045	3	DIAPH2	23	96185760	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	5095212	96185760	59084800	127	1313											
HTR2C	3358	broad.mit.edu	37	chrX	113965899	113965899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatccttgtgatcatggcaGtaagcatggaaaagaaactg	10	7	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:113965899G>A	ENST00000276198.1	+	4	960	c.232G>A	c.(232-234)Gta>Ata	p.V78I	HTR2C_ENST00000371950.3_Missense_Mutation_p.V78I|HTR2C_ENST00000371951.1_Missense_Mutation_p.V78I	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	78					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)	GATCATGGCAGTAAGCATGGA	0.443													4	232					0	0	1	0	0	A	113965899	G	A	113965899	3	1	14	1	0	0	0	0	1	0	0	0	7487	1029	36	2	238	2	HTR2C	23	113965899	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	17780139	113965899	41304661	128	1314											
F8	2157	broad.mit.edu	37	chrX	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-													gaatggctaaagaaaggttaTtttttttggctccttgtaag							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)atfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				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.N1460fs*5(2)|p.N1460fs*2(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)	AGAAAGGTTATTTTTTTTGGC	0.413													8	263	---	---	---	---						-	154157686	T	-	154157686	7	5	14	1	0	1	0	1	0	0	0	0	5378	1493	52	0	2756	0	F8	23	154157686	Frame_Shift_Del	DEL	T	TCGA-HV-A7OL-01A-11D-A33T-08	40191787	154157686	1112874	129	1315											
MEGF6	1953	broad.mit.edu	37	chr1	3407102	3407102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcctctactagtgcctcGctggtccaccgctccgggat	10	16	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:3407102G>A	ENST00000356575.4	-	37	4842	c.4616C>T	c.(4615-4617)gCg>gTg	p.A1539V	MEGF6_ENST00000294599.4_Missense_Mutation_p.A1227V	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1539						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)		CTAGTGCCTCGCTGGTCCACC	0.672													5	91					0	0	1	0	0	A	3407102	G	A	3407102	3	1	15	1	0	0	0	0	1	0	0	0	9512	1087	38	1	13	1	MEGF6	1	3407102	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08		3407102	245843519	1	1316											
PTP4A2	8073	broad.mit.edu	37	chr1	32381581	32381582	+	In_Frame_Ins	INS	-	-	TAA													agtcgtcactccatacttctINStaagttcctttaaaaaaaaa							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:32381581_32381582insTAA	ENST00000344035.6	-	3	1096_1097	c.103_104insTTA	c.(103-105)gaa>TTAgaa	p.34_35insL	RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000602725.1_In_Frame_Ins_p.34_35insL|PTP4A2_ENST00000470404.1_In_Frame_Ins_p.34_35insL|PTP4A2_ENST00000457805.2_Intron|PTP4A2_ENST00000356536.3_In_Frame_Ins_p.34_35insL	NM_080391.3	NP_536316.1	Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	34						early endosome|plasma membrane	prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				TCCATACTTCTTAAGTTCCttt	0.361													36	21	---	---	---	---						TAA	32381582	-	TAA	32381581	7	5	15	1	0	1	1	0	0	0	0	0	12821	1609	56	0	415	0	PTP4A2	1	32381581	In_Frame_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	28974479	32381581	216869040	2	1317											
LRRC41	10489	broad.mit.edu	37	chr1	46745230	46745230	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttcatagcagcaaccatctCaggcagaaattgggctgggc	11	11	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:46745230C>T	ENST00000343304.6	-	8	2362	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	693								p.E693Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCAACCATCTCAGGCAGAAAT	0.547													6	355					0	0	1	0	0	T	46745230	C	T	46745230	3	4	15	1	0	0	0	0	1	0	0	0	9044	835	29	2	373	2	LRRC41	1	46745230	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	14363649	46745230	202505391	3	1318											
PODN	127435	broad.mit.edu	37	chr1	53543466	53543466	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgagggcctggacaacgagaCcttctggtgagtccttgtct	13	11	2	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:53543466C>G	ENST00000371500.3	+	9	1276	c.935C>G	c.(934-936)aCc>aGc	p.T312S	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Missense_Mutation_p.T189S|PODN_ENST00000312553.5_Missense_Mutation_p.T331S	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	283					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GACAACGAGACCTTCTGGTGA	0.642													32	194					0	0	1	0	0	G	53543466	C	G	53543466	3	3	15	1	0	0	0	0	1	0	0	0	12226	507	18	5	1018	5	PODN	1	53543466	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	6798236	53543466	195707155	4	1319											
SV2A	0	broad.mit.edu	37	chr1	149885223	149885225	+	In_Frame_Del	DEL	TCA	TCA	-													catcactgggagcagggaagTcatcatcatcatcctcctcc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:149885223_149885225delTCA	ENST00000369146.3	-	2	658_660	c.168_170delTGA	c.(166-171)gac>ga	p.DD56del	SV2A_ENST00000369145.1_In_Frame_Del_p.DD56del	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	56	Interaction with SYT1 (By similarity).				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)	AGCAGGGAAGTCATCATCATCAT	0.542													7	728	---	---	---	---						-	149885225	TCA	-	149885223	7	5	15	1	0	1	0	1	0	0	0	0	15473	1667	58	0	2106	0	SV2A	1	149885223	In_Frame_Del	DEL	TCA	TCGA-HV-A7OP-01A-11D-A33T-08	96341757	149885223	99365398	5	1320											
ECM1	1893	broad.mit.edu	37	chr1	150484272	150484272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagttccagcgctgctgcCgccaggggaacaatcacacc	13	14	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:150484272C>T	ENST00000369047.4	+	7	1173	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.R377C|ECM1_ENST00000346569.6_Intron	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	350	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)			GCGCTGCTGCCGCCAGGGGAA	0.622													44	339					0	0	1	0	0	T	150484272	C	T	150484272	3	4	15	1	0	0	0	0	1	0	0	0	4923	652	23	1	1074	1	ECM1	1	150484272	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	599049	150484272	98766349	6	1321											
DENND4B	9909	broad.mit.edu	37	chr1	153905124	153905124	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcccagcccttacccccatGtgcccgttgcagagctgggg	13	16	0	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:153905124G>T	ENST00000361217.4	-	23	4171	c.3753C>A	c.(3751-3753)caC>caA	p.H1251Q	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1251										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)			TTACCCCCATGTGCCCGTTGC	0.632													6	361					8.12818e-05	8.33571e-05	1	1	0	T	153905124	G	T	153905124	3	4	15	1	0	0	0	0	1	0	0	0	4462	1368	48	2	761	2	DENND4B	1	153905124	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	3420852	153905124	95345497	7	1322											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	14	12	0	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		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)			gctgctgttgctgctgctgct	0.642													7	527					0	0	1	0	0	T	153907309	C	T	153907309	2	4	15	1	0	0	0	0	0	0	0	1	4462	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	2185	153907309	95343312	8	1323											
PRCC	5546	broad.mit.edu	37	chr1	156756500	156756500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccccatgccttctcccGcaaaccctcggatggctccc	7	21	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:156756500G>A	ENST00000271526.4	+	3	889	c.617G>A	c.(616-618)cGc>cAc	p.R206H	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Missense_Mutation_p.R206H	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	206					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)					GCCTTCTCCCGCAAACCCTCG	0.552			T	TFE3	papillary renal								7	620					0	0	1	0	0	A	156756500	G	A	156756500	3	1	15	1	0	0	0	0	1	0	0	0	12499	1087	38	1	627	1	PRCC	1	156756500	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	2849191	156756500	92494121	9	1324											
OR10K2	391107	broad.mit.edu	37	chr1	158390071	158390071	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagcatgaagatgacaatctGactaaagtggttatggtgag	13	4	1	5			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:158390071G>A	ENST00000314902.2	-	1	585	c.586C>T	c.(586-588)Cag>Tag	p.Q196*		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	196					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)					ATGACAATCTGACTAAAGTGG	0.438													134	398					0	0	1	0	0	A	158390071	G	A	158390071	4	1	15	1	0	0	0	0	0	1	0	0	10962	1299	45	2	354	2	OR10K2	1	158390071	Nonsense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	1633571	158390071	90860550	10	1325											
DCAF6	55827	broad.mit.edu	37	chr1	168034905	168034905	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacattttcatctgggatcgGcacactgctgagcatttgat	9	10	2	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:168034905G>A	ENST00000367840.3	+	19	2611	c.2517G>A	c.(2515-2517)cgG>cgA	p.R839R	DCAF6_ENST00000432587.2_Silent_p.R808R|DCAF6_ENST00000312263.6_Silent_p.R748R|DCAF6_ENST00000367843.3_Silent_p.R768R	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	748					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						TCTGGGATCGGCACACTGCTG	0.413													5	269					0	0	1	0	0	A	168034905	G	A	168034905	2	1	15	1	0	0	0	0	0	0	0	1	4298	1190	42	2		2	DCAF6	1	168034905	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	9644834	168034905	81215716	11	1326											
PRG4	10216	broad.mit.edu	37	chr1	186276564	186276564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaggagcctgcacccacCacccccaagaagcctgcccc	7	22	0	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:186276564C>T	ENST00000445192.2	+	7	1758	c.1713C>T	c.(1711-1713)acC>acT	p.T571T	PRG4_ENST00000367485.4_Silent_p.T478T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T528T|PRG4_ENST00000367483.4_Silent_p.T530T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	571	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.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						CTGCACCCACCACCCCCAAGA	0.642													9	670					0	0	1	0	0	T	186276564	C	T	186276564	2	4	15	1	0	0	0	0	0	0	0	1	12533	581	21	2		2	PRG4	1	186276564	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	18241659	186276564	62974057	12	1327											
PTGS2	5743	broad.mit.edu	37	chr1	186645692	186645692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatactctgttgtgttcccGcagccagattgtggcataca	10	11	1	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:186645692G>A	ENST00000367468.5	-	7	1013	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	293					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)	TTGTGTTCCCGCAGCCAGATT	0.507													6	720					0	0	1	0	0	A	186645692	G	A	186645692	3	1	15	1	0	0	0	0	1	0	0	0	12806	1086	38	1	953	1	PTGS2	1	186645692	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	369128	186645692	62604929	13	1328											
FAM5C	0	broad.mit.edu	37	chr1	190067701	190067701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattcacaggcataaaccagCtctcagagtggctgcctccg	9	14	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:190067701C>T	ENST00000367462.3	-	8	1979	c.1748G>A	c.(1747-1749)aGc>aAc	p.S583N	FAM5C_ENST00000534846.1_Missense_Mutation_p.S481N|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		583						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CATAAACCAGCTCTCAGAGTG	0.468													246	747					0	0	1	0	0	T	190067701	C	T	190067701	3	4	15	1	0	0	0	0	1	0	0	0	5629	797	28	2	556	2	FAM5C	1	190067701	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	3422009	190067701	59182920	14	1329											
TNNT2	7139	broad.mit.edu	37	chr1	201332505	201332507	+	In_Frame_Del	DEL	CTC	CTC	-													tcctcagccttcctcctgttCtcctcctcctctcgtcgagc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:201332505_201332507delCTC	ENST00000509001.1	-	11	773_775	c.487_489delGAG	c.(487-489)del	p.E163del	TNNT2_ENST00000367315.2_In_Frame_Del_p.E163del|TNNT2_ENST00000367317.4_In_Frame_Del_p.E163del|TNNT2_ENST00000367318.5_In_Frame_Del_p.E163del|TNNT2_ENST00000367320.2_In_Frame_Del_p.E133del|TNNT2_ENST00000367322.1_In_Frame_Del_p.E163del|TNNT2_ENST00000460780.1_5'UTR|TNNT2_ENST00000458432.2_In_Frame_Del_p.E175del|TNNT2_ENST00000360372.4_In_Frame_Del_p.E158del|TNNT2_ENST00000236918.7_In_Frame_Del_p.E168del|TNNT2_ENST00000421663.2_In_Frame_Del_p.E165del	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	173					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						TCCTCCTGTTCTCCTCCTCCTCT	0.522													7	1262	---	---	---	---						-	201332507	CTC	-	201332505	7	5	15	1	0	1	0	1	0	0	0	0	16391	912	32	0	404	0	TNNT2	1	201332505	In_Frame_Del	DEL	CTC	TCGA-HV-A7OP-01A-11D-A33T-08	11264804	201332505	47918116	15	1330											
ADORA1	134	broad.mit.edu	37	chr1	203098141	203098141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggtggctgatgtggccGtgggtgccctggtcatcccc	17	12	1	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:203098141G>A	ENST00000367236.4	+	2	1093	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	ADORA1_ENST00000337894.4_Missense_Mutation_p.V58M|ADORA1_ENST00000309502.3_Missense_Mutation_p.V58M|ADORA1_ENST00000367235.1_Missense_Mutation_p.V58M	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	58					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TGATGTGGCCGTGGGTGCCCT	0.632													6	997					0	0	1	0	0	A	203098141	G	A	203098141	3	1	15	1	0	0	0	0	1	0	0	0	325	1145	40	1	174	1	ADORA1	1	203098141	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	1765636	203098141	46152480	16	1331											
GOLT1A	127845	broad.mit.edu	37	chr1	204170871	204170871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttcccttgagtttgtgCcgttggaagaagaaccaaaa	11	8	0	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:204170871C>T	ENST00000308302.3	-	3	371	c.186G>A	c.(184-186)cgG>cgA	p.R62R		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	62					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		p.R62R(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567													6	798					0	0	1	0	0	T	204170871	C	T	204170871	2	4	15	1	0	0	0	0	0	0	0	1	6609	726	26	2		2	GOLT1A	1	204170871	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	1072730	204170871	45079750	17	1332											
CENPF	1063	broad.mit.edu	37	chr1	214818826	214818826	+	Frame_Shift_Del	DEL	A	A	-													ggagaattagatactatgtcAaaaaaaaccacggcactgga							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:214818826delA	ENST00000366955.3	+	13	6081	c.5913delA	c.(5911-5913)tcfs	p.S1971fs		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2067					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)		ATACTATGTCAAAAAAAACCA	0.408													7	471	---	---	---	---						-	214818826	A	-	214818826	7	5	15	1	0	1	0	1	0	0	0	0	3253	117	5	0	5959	0	CENPF	1	214818826	Frame_Shift_Del	DEL	A	TCGA-HV-A7OP-01A-11D-A33T-08	10647955	214818826	34431795	18	1333											
WNT3A	89780	broad.mit.edu	37	chr1	228238532	228238532	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaggacatcgagtttggtggGatggtgtctcgggagttcgc	18	6	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:228238532G>T	ENST00000284523.1	+	3	567	c.489G>T	c.(487-489)ggG>ggT	p.G163G	WNT3A_ENST00000366753.2_Silent_p.G163G	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	163					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)				AGTTTGGTGGGATGGTGTCTC	0.667													15	380					2.32078e-09	2.47482e-09	1	1	0	T	228238532	G	T	228238532	2	4	15	1	0	0	0	0	0	0	0	1	17449	1161	41	2		2	WNT3A	1	228238532	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	13419706	228238532	21012089	19	1334											
COG2	22796	broad.mit.edu	37	chr1	230805103	230805103	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccaccttttcttgcagcGtatagctggcattacagcca	7	13	1	0	rs147719039		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:230805103G>A	ENST00000534989.1	+	7	754	c.417_splice	c.e7-1	p.R140_splice	COG2_ENST00000494371.1_3'UTR|COG2_ENST00000366669.4_Splice_Site_p.R199_splice|COG2_ENST00000366668.3_Splice_Site_p.R199_splice|COG2_ENST00000535166.1_Splice_Site_p.R83_splice			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	199					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	p.R199H(1)		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)				TTCTTGCAGCGTATAGCTGGC	0.418													5	558					0	0	1	0	0	A	230805103	G	A	230805103	5	1	15	1	0	0	0	0	0	0	1	0	3681	1159	40	1	622	1	COG2	1	230805103	Splice_Site	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	2566571	230805103	18445518	20	1335											
OR6F1	343169	broad.mit.edu	37	chr1	247875338	247875338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtgagatgcgaggagcaCgtggagaaggctttgctccg	17	8	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:247875338C>T	ENST00000302084.2	-	1	767	c.720G>A	c.(718-720)acG>acA	p.T240T	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			GCGAGGAGCACGTGGAGAAGG	0.527													65	630					0	0	1	0	0	T	247875338	C	T	247875338	2	4	15	1	0	0	0	0	0	0	0	1	11248	523	19	1		1	OR6F1	1	247875338	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	17070235	247875338	1375283	21	1336											
OR2T33	391195	broad.mit.edu	37	chr1	248437112	248437112	+	Frame_Shift_Del	DEL	T	T	-													ctggggtagtatttctcatcTccataatttcccctggtgtg							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:248437112delT	ENST00000318021.2	-	1	26	c.5delA	c.(4-6)ggfs	p.E2fs		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	2					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)			ATTTCTCATCTCCATAATTTC	0.428													12	572	---	---	---	---						-	248437112	T	-	248437112	7	5	15	1	0	1	0	1	0	0	0	0	11072	1551	54	0	960	0	OR2T33	1	248437112	Frame_Shift_Del	DEL	T	TCGA-HV-A7OP-01A-11D-A33T-08	561774	248437112	813509	22	1337											
MAPRE3	22924	broad.mit.edu	37	chr2	27248501	27248501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacatgcagacctctggcCggctgagcaatgtggccccc	11	14	1	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:27248501C>T	ENST00000233121.2	+	5	718	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	MAPRE3_ENST00000402218.1_Missense_Mutation_p.R159W|MAPRE3_ENST00000405074.3_Missense_Mutation_p.R159W			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	174					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)					GACCTCTGGCCGGCTGAGCAA	0.577													16	305					0	0	1	0	0	T	27248501	C	T	27248501	3	4	15	1	0	0	0	0	1	0	0	0	9346	643	23	1	534	1	MAPRE3	2	27248501	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08		27248501	215950872	23	1338											
DHX57	90957	broad.mit.edu	37	chr2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-													cctttctgttgccgccacctCcaccaccaccaccaccgcca							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)gga>gg	p.GG47del		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	47	Gly-rich.						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)				Gccgccacctccaccaccaccac	0.532													12	386	---	---	---	---						-	39095413	CCA	-	39095411	7	5	15	1	0	1	0	1	0	0	0	0	4541	855	30	0	4115	0	DHX57	2	39095411	In_Frame_Del	DEL	CCA	TCGA-HV-A7OP-01A-11D-A33T-08	11846910	39095411	204103962	24	1339											
SPTBN1	0	broad.mit.edu	37	chr2	54855304	54855304	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgttacagaagcacacccTggttgaagcagacattggca	10	11	0	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:54855304T>G	ENST00000333896.5	+	12	2061	c.1676T>G	c.(1675-1677)cTg>cGg	p.L559R	SPTBN1_ENST00000356805.4_Missense_Mutation_p.L572R	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	572					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)			AAGCACACCCTGGTTGAAGCA	0.517													61	100					0	0	1	0	0	G	54855304	T	G	54855304	3	3	15	1	0	0	0	0	1	0	0	0	15175	1580	55	3	1874	3	SPTBN1	2	54855304	Missense_Mutation	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	15759893	54855304	188344069	25	1340											
TTN	7273	broad.mit.edu	37	chr2	179483531	179483531	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaccattgtcagaggcttGccaacatcaaccacaaggtc	7	14	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:179483531G>T	ENST00000589042.1	-	251	46970	c.46746C>A	c.(46744-46746)ggC>ggA	p.G15582G	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Silent_p.G6517G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.G6709G|TTN_ENST00000359218.5_Silent_p.G6642G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.G13014G|TTN_ENST00000591111.1_Silent_p.G13941G|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13941	Fibronectin type-III 13.						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)			TCAGAGGCTTGCCAACATCAA	0.413													12	119					1.49906e-05	1.55053e-05	1	1	0	T	179483531	G	T	179483531	2	4	15	1	0	0	0	0	0	0	0	1	16797	1306	46	2		2	TTN	2	179483531	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	124628227	179483531	63715842	26	1341											
TTN	7273	broad.mit.edu	37	chr2	179546424	179546424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttggttttgtgggaactgGttcttctgggacaggcttta	13	6	2	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:179546424G>A	ENST00000589042.1	-	136	33360	c.33136C>T	c.(33136-33138)Cca>Tca	p.P11046S	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P9802S|TTN_ENST00000591111.1_Missense_Mutation_p.P10729S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10729	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)			GTGGGAACTGGTTCTTCTGGG	0.383													21	300					0	0	1	0	0	A	179546424	G	A	179546424	3	1	15	1	0	0	0	0	1	0	0	0	16797	1261	44	2	71301	2	TTN	2	179546424	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	62893	179546424	63652949	27	1342											
CYP27A1	1593	broad.mit.edu	37	chr2	219674321	219674321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctttacaaggccaagtacGgtccaatgtggatgtcctac	10	10	0	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:219674321G>A	ENST00000258415.4	+	2	704	c.277G>A	c.(277-279)Ggt>Agt	p.G93S		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	93					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)	GGCCAAGTACGGTCCAATGTG	0.557													18	304					0	0	1	0	0	A	219674321	G	A	219674321	3	1	15	1	0	0	0	0	1	0	0	0	4181	1116	39	1	283	1	CYP27A1	2	219674321	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	40127897	219674321	23525052	28	1343											
UGT1A3	0	broad.mit.edu	37	chr2	234638369	234638369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatattcctagattactaacAaccaattcagaccacatgac	3	11	1	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:234638369A>G	ENST00000482026.1	+	1	616	c.597A>G	c.(595-597)acA>acG	p.T199T	UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A8_ENST00000373450.4_Intron	NM_019093.2	NP_061966.1												p.T199T(8)		breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		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;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GATTACTAACAACCAATTCAG	0.423													7	706					0	0	1	0	0	G	234638369	A	G	234638369	2	3	15	1	0	0	0	0	0	0	0	1	17006	117	5	3		3	UGT1A3	2	234638369	Silent	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	14964048	234638369	8561004	29	1344											
RARB	5915	broad.mit.edu	37	chr3	25637964	25637964	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcctggatcaatgccacctCtcattcaagaaatgctggag	8	11	3	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:25637964C>T	ENST00000330688.4	+	8	1625	c.1204C>T	c.(1204-1206)Ctc>Ttc	p.L402F	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Missense_Mutation_p.L290F|RARB_ENST00000404969.1_Missense_Mutation_p.L409F|RARB_ENST00000437042.2_Missense_Mutation_p.L290F	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	409	Ligand-binding.				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)	AATGCCACCTCTCATTCAAGA	0.433													185	253					0	0	1	0	0	T	25637964	C	T	25637964	3	4	15	1	0	0	0	0	1	0	0	0	13105	913	32	2	1234	2	RARB	3	25637964	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08		25637964	172384466	30	1345											
TOP2B	7155	broad.mit.edu	37	chr3	25668727	25668727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatatctaaacaagatgCgatgcctttccatatcagca	6	11	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:25668727C>T	ENST00000435706.2	-	16	2153	c.1952G>A	c.(1951-1953)cGc>cAc	p.R651H	TOP2B_ENST00000264331.4_Missense_Mutation_p.R656H			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	656					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	p.R651H(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						AAACAAGATGCGATGCCTTTC	0.353													215	284					0	0	1	0	0	T	25668727	C	T	25668727	3	4	15	1	0	0	0	0	1	0	0	0	16427	768	27	1	2997	1	TOP2B	3	25668727	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	30763	25668727	172353703	31	1346											
CTNNB1	1499	broad.mit.edu	37	chr3	41277224	41277224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttttggcaggagggggtcCgcatggaagaaatagttgaa	15	5	1	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:41277224C>T	ENST00000349496.5	+	11	1973	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	CTNNB1_ENST00000396185.3_Missense_Mutation_p.R565C|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R565C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R565C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R558C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	565					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)	GGAGGGGGTCCGCATGGAAGA	0.403		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				5	430					0	0	1	0	0	T	41277224	C	T	41277224	3	4	15	1	0	0	0	0	1	0	0	0	4040	652	23	1	1731	1	CTNNB1	3	41277224	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	15608497	41277224	156745206	32	1347											
KIF9	64147	broad.mit.edu	37	chr3	47308515	47308515	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagatccaccaagttaattTtggaagtgatgtacttttcc	7	9	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:47308515T>G	ENST00000335044.2	-	7	1076	c.719A>C	c.(718-720)aAa>aCa	p.K240T	KIF9_ENST00000265529.3_Missense_Mutation_p.K240T|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000352910.4_Missense_Mutation_p.K147T|KIF9_ENST00000452770.2_Missense_Mutation_p.K240T|KIF9_ENST00000444589.2_Missense_Mutation_p.K240T	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	240	Kinesin-motor.				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)		CAAGTTAATTTTGGAAGTGAT	0.483													48	300					0	0	1	0	0	G	47308515	T	G	47308515	3	3	15	1	0	0	0	0	1	0	0	0	8352	1841	64	3	1713	3	KIF9	3	47308515	Missense_Mutation	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	6031291	47308515	150713915	33	1348											
WNT5A	7474	broad.mit.edu	37	chr3	55508500	55508500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccatagtcgatgttgtcGccgcagccgccccagagcca	11	15	0	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:55508500G>A	ENST00000474267.1	-	5	1070	c.549C>T	c.(547-549)ggC>ggT	p.G183G	WNT5A_ENST00000264634.4_Silent_p.G183G|WNT5A_ENST00000497027.1_Silent_p.G168G			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	183					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)		CGATGTTGTCGCCGCAGCCGC	0.716													27	43					0	0	1	0	0	A	55508500	G	A	55508500	2	1	15	1	0	0	0	0	0	0	0	1	17451	1074	38	1		1	WNT5A	3	55508500	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	8199985	55508500	142513930	34	1349											
ARHGEF3	50650	broad.mit.edu	37	chr3	56779360	56779360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattccagagatctagtttgCggctaaagggggattctaaa	11	6	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:56779360C>T	ENST00000413728.2	-	7	1304	c.761G>A	c.(760-762)cGc>cAc	p.R254H	ARHGEF3_ENST00000338458.4_Missense_Mutation_p.R280H|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.R219H|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.R248H|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.R248H|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.R254H	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	248	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)		ATCTAGTTTGCGGCTAAAGGG	0.468													6	978					0	0	1	0	0	T	56779360	C	T	56779360	3	4	15	1	0	0	0	0	1	0	0	0	901	768	27	1	853	1	ARHGEF3	3	56779360	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	1270860	56779360	141243070	35	1350											
ADAMTS9	56999	broad.mit.edu	37	chr3	64667008	64667008	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtagtggttcaataaaaTaatccccatcatgagaccgg	8	9	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:64667008T>C	ENST00000498707.1	-	3	890	c.548A>G	c.(547-549)tAt>tGt	p.Y183C	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Y183C|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.Y183C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	183					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)		TTCAATAAAATAATCCCCATC	0.448													15	155					0	0	1	0	0	C	64667008	T	C	64667008	3	2	15	1	0	0	0	0	1	0	0	0	272	1406	49	3	5407	3	ADAMTS9	3	64667008	Missense_Mutation	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	7887648	64667008	133355422	36	1351											
COL6A6	131873	broad.mit.edu	37	chr3	130293015	130293015	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taggtgaaaaagagatatcaTttcagattgaaaacatcaag	8	4	3	4			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:130293015T>A	ENST00000358511.6	+	7	3224	c.3193T>A	c.(3193-3195)Ttt>Att	p.F1065I	COL6A6_ENST00000453409.2_Missense_Mutation_p.F1065I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1065	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						AGAGATATCATTTCAGATTGA	0.478													105	127					0	0	1	0	0	A	130293015	T	A	130293015	3	1	15	1	0	0	0	0	1	0	0	0	3726	1493	52	5	3219	5	COL6A6	3	130293015	Missense_Mutation	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	65626007	130293015	67729415	37	1352											
WWTR1	25937	broad.mit.edu	37	chr3	149260194	149260196	+	In_Frame_Del	DEL	CTG	CTG	-													attctctgaagccgcagtttCtgctgctgctgctgctgagt							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:149260194_149260196delCTG	ENST00000465804.1	-	5	953_955	c.697_699delCAG	c.(697-699)del	p.Q233del	WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Gln-rich.				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)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma								7	293	---	---	---	---						-	149260196	CTG	-	149260194	7	5	15	1	0	1	0	1	0	0	0	0	17477	912	32	0	519	0	WWTR1	3	149260194	In_Frame_Del	DEL	CTG	TCGA-HV-A7OP-01A-11D-A33T-08	18967179	149260194	48762236	38	1353											
C3orf55	152078	broad.mit.edu	37	chr3	157289824	157289825	+	Frame_Shift_Ins	INS	-	-	A													acaggttaaagaatcagaagINSaaaaaaatgtaagattgata							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:157289824_157289825insA	ENST00000449199.2	+	4	435_436	c.294_295insA	c.(292-297)aaaaaafs	p.KK98fs	C3orf55_ENST00000426338.2_Intron|C3orf55_ENST00000461040.1_Intron|C3orf55_ENST00000459838.1_Intron|C3orf55_ENST00000312275.5_Frame_Shift_Ins_p.KK98fs	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN	chromosome 3 open reading frame 55	98										breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			AGAATCAGAAGAAAAAAATGTA	0.302													7	12	---	---	---	---						A	157289825	-	A	157289824	7	5	15	1	0	1	1	0	0	0	0	0	2248	933	33	0	304	0	C3orf55	3	157289824	Frame_Shift_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	8029630	157289824	40732606	39	1354											
PIK3CA	5290	broad.mit.edu	37	chr3	178951994	178951994	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgccagaactacaatcttttGatgacattgcatacattcga	6	9	1	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:178951994G>A	ENST00000263967.3	+	21	3206	c.3049G>A	c.(3049-3051)Gat>Aat	p.D1017N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1017	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	p.D1017H(4)		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)			ACAATCTTTTGATGACATTGC	0.393		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			115	153					0	0	1	0	0	A	178951994	G	A	178951994	3	1	15	1	0	0	0	0	1	0	0	0	11961	1290	45	2	3127	2	PIK3CA	3	178951994	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	21662170	178951994	19070436	40	1355											
FXR1	0	broad.mit.edu	37	chr3	180688069	180688069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtaggcggtctcgtagacGaaggactgatgaagatgctg	15	7	1	4			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:180688069G>A	ENST00000357559.4	+	15	1910	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q	FXR1_ENST00000445140.2_Missense_Mutation_p.R509Q|FXR1_ENST00000305586.7_Missense_Mutation_p.R424Q|FXR1_ENST00000468861.1_Missense_Mutation_p.R424Q|FXR1_ENST00000480918.1_Missense_Mutation_p.R496Q|FXR1_ENST00000491062.1_Missense_Mutation_p.R460Q	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	509	Poly-Arg.				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)			TCTCGTAGACGAAGGACTGAT	0.443													13	288					0	0	1	0	0	A	180688069	G	A	180688069	3	1	15	1	0	0	0	0	1	0	0	0	6150	1058	37	1	1584	1	FXR1	3	180688069	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	1736075	180688069	17334361	41	1356											
PTPN13	0	broad.mit.edu	37	chr4	87653817	87653817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaacgggcaaagactggaaCtgacctgtgataccaaaact	10	9	0	4			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:87653817C>A	ENST00000436978.1	+	12	2236	c.1756C>A	c.(1756-1758)Ctg>Atg	p.L586M	PTPN13_ENST00000316707.6_Missense_Mutation_p.L586M|PTPN13_ENST00000511467.1_Missense_Mutation_p.L586M|PTPN13_ENST00000427191.2_Missense_Mutation_p.L586M|PTPN13_ENST00000411767.2_Missense_Mutation_p.L586M	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)	586	FERM.					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)		AAGACTGGAACTGACCTGTGA	0.368													18	163					8.34094e-07	8.70202e-07	1	1	0	A	87653817	C	A	87653817	3	1	15	1	0	0	0	0	1	0	0	0	12832	564	20	2	1798	2	PTPN13	4	87653817	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08		87653817	103500459	42	1357											
AFF1	4299	broad.mit.edu	37	chr4	87968372	87968372	+	Frame_Shift_Del	DEL	C	C	-													attccaaccagcaaactcttCcccggacgcaaggaagcagc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:87968372delC	ENST00000307808.6	+	3	1084	c.664delC	c.(664-666)ccfs	p.P222fs	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Frame_Shift_Del_p.P229fs	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	222						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)		GCAAACTCTTCCCCGGACGCA	0.512													339	301	---	---	---	---						-	87968372	C	-	87968372	7	5	15	1	0	1	0	1	0	0	0	0	355	855	30	0	716	0	AFF1	4	87968372	Frame_Shift_Del	DEL	C	TCGA-HV-A7OP-01A-11D-A33T-08	314555	87968372	103185904	43	1358											
MMRN1	22915	broad.mit.edu	37	chr4	90857205	90857205	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctattcagactttggtcaatGacaatcagagatataacttt	6	7	3	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:90857205G>A	ENST00000394980.1	+	7	2693	c.2374G>A	c.(2374-2376)Gac>Aac	p.D792N	MMRN1_ENST00000264790.2_Missense_Mutation_p.D792N|MMRN1_ENST00000508372.1_Missense_Mutation_p.D534N|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	792					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)		TTTGGTCAATGACAATCAGAG	0.378													7	198					0	0	1	0	0	A	90857205	G	A	90857205	3	1	15	1	0	0	0	0	1	0	0	0	9719	1290	45	2	2396	2	MMRN1	4	90857205	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	2888833	90857205	100297071	44	1359											
PCDH10	57575	broad.mit.edu	37	chr4	134073206	134073206	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggactggcgcaccggggaGctgcgcacagcacgccgagt	16	13	0	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:134073206G>A	ENST00000264360.4	+	1	2737	c.1911G>A	c.(1909-1911)gaG>gaA	p.E637E		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	637	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)		GCACCGGGGAGCTGCGCACAG	0.677													25	144					0	0	1	0	0	A	134073206	G	A	134073206	2	1	15	1	0	0	0	0	0	0	0	1	11554	962	34	2		2	PCDH10	4	134073206	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	43216001	134073206	57081070	45	1360											
DCLK2	166614	broad.mit.edu	37	chr4	151023709	151023709	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attaatccaaactggtctgtGaacatcaagggtgggacatc	10	8	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:151023709G>A	ENST00000296550.7	+	2	1255	c.501G>A	c.(499-501)gtG>gtA	p.V167V	DCLK2_ENST00000506325.1_Silent_p.V167V|DCLK2_ENST00000302176.8_Silent_p.V167V	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	167					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)					ACTGGTCTGTGAACATCAAGG	0.403													19	129					0	0	1	0	0	A	151023709	G	A	151023709	2	1	15	1	0	0	0	0	0	0	0	1	4315	1277	45	2		2	DCLK2	4	151023709	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	16950503	151023709	40130567	46	1361											
DDX60L	91351	broad.mit.edu	37	chr4	169305894	169305894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggagtctttttattttggGcaatgggatatcaaagaaat	10	3	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:169305894G>A	ENST00000511577.1	-	30	4232	c.3985C>T	c.(3985-3987)Ccc>Tcc	p.P1329S	DDX60L_ENST00000260184.7_Missense_Mutation_p.P1329S			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1329	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)		TTTATTTTGGGCAATGGGATA	0.468													3	51					0	0	1	0	0	A	169305894	G	A	169305894	3	1	15	1	0	0	0	0	1	0	0	0	4402	1203	42	2	1171	2	DDX60L	4	169305894	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	18282185	169305894	21848382	47	1362											
SLC6A18	348932	broad.mit.edu	37	chr5	1232476	1232476	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccgtacctcagtggagtaggTaggccaccgtcctcgcttgc	12	14	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:1232476T>A	ENST00000324642.3	+	2	424		c.e2+2		SLC6A18_ENST00000296821.4_Splice_Site	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18						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)			GTGGAGTAGGTAGGCCACCGT	0.682													4	118					0	0	1	0	0	A	1232476	T	A	1232476	5	1	15	1	0	0	0	0	0	0	1	0	14736	1652	57	5	309	5	SLC6A18	5	1232476	Splice_Site	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08		1232476	179682784	48	1363											
TERT	0	broad.mit.edu	37	chr5	1278808	1278808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcggccttctggaccacgGcataccgacgcacgcagtac	13	15	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:1278808G>A	ENST00000310581.5	-	6	2291	c.2234C>T	c.(2233-2235)gCc>gTc	p.A745V	TERT_ENST00000296820.5_Missense_Mutation_p.A745V|TERT_ENST00000508104.2_Missense_Mutation_p.A745V|TERT_ENST00000334602.6_Missense_Mutation_p.A745V	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	745	Reverse transcriptase.				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)			CTGGACCACGGCATACCGACG	0.602									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				14	2589					0	0	1	0	0	A	1278808	G	A	1278808	3	1	15	1	0	0	0	0	1	0	0	0	15823	1203	42	2	1208	2	TERT	5	1278808	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	46332	1278808	179636452	49	1364											
IRX4	50805	broad.mit.edu	37	chr5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-													ccgcgcctcctcctcgccccCctcctcctcctcgccctccg							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)ggg>g	p.EG228del	IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				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)		tcctcgcccccctcctcctcctc	0.685													8	339	---	---	---	---						-	1879671	CCT	-	1879669	7	5	15	1	0	1	0	1	0	0	0	0	7890	623	22	0	882	0	IRX4	5	1879669	In_Frame_Del	DEL	CCT	TCGA-HV-A7OP-01A-11D-A33T-08	600861	1879669	179035591	50	1365											
SEMA5A	9037	broad.mit.edu	37	chr5	9197404	9197404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacgcacacagctgaggccGcaatgctgttcctgggagcg	14	12	0	2	rs138681371	by1000genomes	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:9197404G>A	ENST00000382496.5	-	10	1609	c.944C>T	c.(943-945)gCg>gTg	p.A315V		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	315	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						AGCTGAGGCCGCAATGCTGTT	0.617													6	622					0	0	1	0	0	A	9197404	G	A	9197404	3	1	15	1	0	0	0	0	1	0	0	0	14091	1087	38	1	2336	1	SEMA5A	5	9197404	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	7317735	9197404	171717856	51	1366											
RXFP3	51289	broad.mit.edu	37	chr5	33936896	33936896	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgaataaggcagcaggCggggacaagctagcagaact	13	9	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:33936896C>T	ENST00000330120.3	+	1	406	c.51C>T	c.(49-51)ggC>ggT	p.G17G		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	17						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						AGGCAGCAGGCGGGGACAAGC	0.582													44	644					0	0	1	0	0	T	33936896	C	T	33936896	2	4	15	1	0	0	0	0	0	0	0	1	13813	755	27	1		1	RXFP3	5	33936896	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	24739492	33936896	146978364	52	1367											
SPEF2	79925	broad.mit.edu	37	chr5	35776458	35776458	+	Frame_Shift_Del	DEL	A	A	-													tgatgtatataaactcatggAaaaatggcttggtgagaggt							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:35776458delA	ENST00000440995.2	+	29	4163	c.4163delA	c.(4162-4164)gafs	p.E1388fs	SPEF2_ENST00000356031.3_Frame_Shift_Del_p.E1393fs|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1393					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)			AAACTCATGGAAAAATGGCTT	0.348													7	863	---	---	---	---						-	35776458	A	-	35776458	7	5	15	1	0	1	0	1	0	0	0	0	15091	246	9	0	4313	0	SPEF2	5	35776458	Frame_Shift_Del	DEL	A	TCGA-HV-A7OP-01A-11D-A33T-08	1839562	35776458	145138802	53	1368											
FGF10	2255	broad.mit.edu	37	chr5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-													caccaagaacagcaacaaaaAgcagcagcagcagcagccgg							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:44388715_44388717delAGC	ENST00000264664.4	-	1	182_184	c.68_70delGCT	c.(67-72)ttt>t	p.CF23del		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	23					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)					AGCAACAAAAAGCAGCAGCAGCA	0.537													7	453	---	---	---	---						-	44388717	AGC	-	44388715	7	5	15	1	0	1	0	1	0	0	0	0	5872	72	3	0	568	0	FGF10	5	44388715	In_Frame_Del	DEL	AGC	TCGA-HV-A7OP-01A-11D-A33T-08	8612257	44388715	136526545	54	1369											
ARSB	411	broad.mit.edu	37	chr5	78264932	78264932	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtataacctgcttcttttagGagctggggcaggagtttttc	12	7	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:78264932G>C	ENST00000264914.4	-	2	932	c.396C>G	c.(394-396)ctC>ctG	p.L132L	ARSB_ENST00000396151.3_Silent_p.L132L|ARSB_ENST00000565165.1_Silent_p.L132L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	132					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)		CTTCTTTTAGGAGCTGGGGCA	0.478													13	393					0	0	1	0	0	C	78264932	G	C	78264932	2	2	15	1	0	0	0	0	0	0	0	1	987	1161	41	5		5	ARSB	5	78264932	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	33876217	78264932	102650328	55	1370											
APC	324	broad.mit.edu	37	chr5	112162891	112162891	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacagtattacactaagaCgatatgctggaatggctttg	9	7	0	1	rs137854580		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:112162891C>T	ENST00000457016.1	+	12	1875	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	APC_ENST00000257430.4_Nonsense_Mutation_p.R499*|APC_ENST00000508376.2_Nonsense_Mutation_p.R499*			P25054	APC_HUMAN	adenomatous polyposis coli	499	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.R499*(5)|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)		TACACTAAGACGATATGCTGG	0.373		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)			107	23					0	0	1	0	0	T	112162891	C	T	112162891	4	4	15	1	0	0	0	0	0	1	0	0	759	528	19	1	1537	1	APC	5	112162891	Nonsense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	33897959	112162891	68752369	56	1371											
TCF7	6932	broad.mit.edu	37	chr5	133478560	133478560	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagcgctgccatcaaccagAtcctgggccgcagggtgaga	14	12	1	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:133478560A>T	ENST00000395029.1	+	7	1099	c.904A>T	c.(904-906)Atc>Ttc	p.I302F	TCF7_ENST00000520958.1_Missense_Mutation_p.I187F|TCF7_ENST00000518915.1_Missense_Mutation_p.I187F|TCF7_ENST00000378564.1_Missense_Mutation_p.I302F|TCF7_ENST00000321584.4_Missense_Mutation_p.I302F|TCF7_ENST00000395023.1_Missense_Mutation_p.I187F|TCF7_ENST00000432532.2_Missense_Mutation_p.I187F|TCF7_ENST00000378560.4_Missense_Mutation_p.I187F|TCF7_ENST00000342854.5_Missense_Mutation_p.I302F|TCF7_ENST00000321603.6_Missense_Mutation_p.I302F			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	302					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			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)			CATCAACCAGATCCTGGGCCG	0.587													20	146					0	0	1	0	0	T	133478560	A	T	133478560	3	4	15	1	0	0	0	0	1	0	0	0	15756	333	12	5	930	5	TCF7	5	133478560	Missense_Mutation	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	21315669	133478560	47436700	57	1372											
PCDHA12	0	broad.mit.edu	37	chr5	140256419	140256419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaacgacaatgcgcctgcGttcgcgcagcccgagtacac	12	14	0	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:140256419G>A	ENST00000398631.2	+	1	1362	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.1	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)			ATGCGCCTGCGTTCGCGCAGC	0.652													291	65					0	0	1	0	0	A	140256419	G	A	140256419	2	1	15	1	0	0	0	0	0	0	0	1	11569	1132	40	1		1	PCDHA12	5	140256419	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	6777859	140256419	40658841	58	1373											
PCDHB14	0	broad.mit.edu	37	chr5	140603142	140603142	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aatattccttgttttgctggGattgtctcgggcaggtactg	12	7	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:140603142G>T	ENST00000239449.4	+	1	65	c.65G>T	c.(64-66)gGa>gTa	p.G22V	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		22					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)			GTTTTGCTGGGATTGTCTCGG	0.478													84	19					9.96456e-45	1.09656e-44	1	1	0	T	140603142	G	T	140603142	3	4	15	1	0	0	0	0	1	0	0	0	11586	1174	41	2	67	2	PCDHB14	5	140603142	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	346723	140603142	40312118	59	1374											
SLC22A23	63027	broad.mit.edu	37	chr6	3284091	3284091	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctcccatgacgcaccttatCaccgtcggggtgatctccgc	9	16	3	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:3284091C>G	ENST00000436008.2	-	10	2184	c.1722G>C	c.(1720-1722)gtG>gtC	p.V574V	PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000406686.3_Silent_p.V566V|SLC22A23_ENST00000380302.4_Silent_p.V285V|SLC22A23_ENST00000490273.1_Silent_p.V285V			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	566					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)				CGCACCTTATCACCGTCGGGG	0.587													11	163					0	0	1	0	0	G	3284091	C	G	3284091	2	3	15	1	0	0	0	0	0	0	0	1	14508	813	29	5		5	SLC22A23	6	3284091	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08		3284091	167830976	60	1375											
GMPR	2766	broad.mit.edu	37	chr6	16254859	16254859	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaccagcatcctggaagctGtgccacaggttaagtttatt	10	9	0	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:16254859G>T	ENST00000259727.4	+	4	472	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	120					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)				CCTGGAAGCTGTGCCACAGGT	0.448													230	283					1.56607e-112	1.74733e-112	1	1	0	T	16254859	G	T	16254859	3	4	15	1	0	0	0	0	1	0	0	0	6538	1377	48	2	372	2	GMPR	6	16254859	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	12970768	16254859	154860208	61	1376											
RBM24	221662	broad.mit.edu	37	chr6	17292126	17292128	+	In_Frame_Del	DEL	GCT	GCT	-													catacgcacaatactcagcaGctgctgctgctgccgccgcc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:17292126_17292128delGCT	ENST00000379052.5	+	4	723_725	c.487_489delGCT	c.(487-489)del	p.A172del	RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000318204.5_In_Frame_Del_p.A127del|RBM24_ENST00000425446.2_In_Frame_Del_p.A114del	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	172	Ala-rich.				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)			ATACTCAGCAgctgctgctgctg	0.606													10	378	---	---	---	---						-	17292128	GCT	-	17292126	7	5	15	1	0	1	0	1	0	0	0	0	13176	971	34	0	534	0	RBM24	6	17292126	In_Frame_Del	DEL	GCT	TCGA-HV-A7OP-01A-11D-A33T-08	1037267	17292126	153822941	62	1377											
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-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	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													5	567					0	0	1	0	0	A	26390289	G	A	26390289	3	1	15	1	0	0	0	0	1	0	0	0	1564	1087	38	1	795	1	BTN2A2	6	26390289	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	9098163	26390289	144724778	63	1378											
TFAP2B	7021	broad.mit.edu	37	chr6	50807925	50807925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgcgaaacggagtttcccGccaaagccgtctctgagtat	10	11	1	1	rs140210899	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:50807925G>A	ENST00000263046.4	+	7	1190	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	TFAP2B_ENST00000393655.3_Missense_Mutation_p.A333T			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	333					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)					GGAGTTTCCCGCCAAAGCCGT	0.488													6	568					0	0	1	0	0	A	50807925	G	A	50807925	3	1	15	1	0	0	0	0	1	0	0	0	15848	1087	38	1	1019	1	TFAP2B	6	50807925	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	24417636	50807925	120307142	64	1379											
PKHD1	5314	broad.mit.edu	37	chr6	51618013	51618013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttacctgaaaattcttctCggctggacttcctgaaggac	8	10	2	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:51618013C>T	ENST00000371117.3	-	57	9211	c.8936G>A	c.(8935-8937)cGa>cAa	p.R2979Q	PKHD1_ENST00000340994.4_Missense_Mutation_p.R2979Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2979					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)					AAATTCTTCTCGGCTGGACTT	0.443													156	191					0	0	1	0	0	T	51618013	C	T	51618013	3	4	15	1	0	0	0	0	1	0	0	0	12019	884	31	1	3371	1	PKHD1	6	51618013	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	810088	51618013	119497054	65	1380											
DST	667	broad.mit.edu	37	chr6	56472575	56472575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatgttcaggttctccaCagtgacatttattgaaacta	6	9	3	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:56472575C>T	ENST00000370754.5	-	39	6751	c.6752G>A	c.(6751-6753)tGt>tAt	p.C2251Y	DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.C2073Y|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.C2073Y|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Missense_Mutation_p.C1747Y|DST_ENST00000312431.6_Missense_Mutation_p.C2073Y			Q03001	DYST_HUMAN	dystonin	2073					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)			AGGTTCTCCACAGTGACATTT	0.338													138	181					0	0	1	0	0	T	56472575	C	T	56472575	3	4	15	1	0	0	0	0	1	0	0	0	4809	493	17	2		2	DST	6	56472575	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	4854562	56472575	114642492	66	1381											
FAM135A	57579	broad.mit.edu	37	chr6	71246002	71246002	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcaatttaataattcgttcAgtgcttacaaggccaaggtt	9	7	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:71246002A>T	ENST00000418814.2	+	19	4619	c.4005A>T	c.(4003-4005)tcA>tcT	p.S1335S	FAM135A_ENST00000361499.3_Silent_p.S1139S|FAM135A_ENST00000505868.1_Silent_p.S1335S|FAM135A_ENST00000370479.3_Silent_p.S1122S|FAM135A_ENST00000505769.1_Silent_p.S915S|FAM135A_ENST00000457062.2_Silent_p.S1122S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1335										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						TAATTCGTTCAGTGCTTACAA	0.348													97	143					0	0	1	0	0	T	71246002	A	T	71246002	2	4	15	1	0	0	0	0	0	0	0	1	5479	175	7	5		5	FAM135A	6	71246002	Silent	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	14773427	71246002	99869065	67	1382											
KCNQ5	56479	broad.mit.edu	37	chr6	73751750	73751750	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atatagaggatggcaaggaaGactgaggtttgctcgaaagc	14	5	0	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:73751750G>A	ENST00000342056.2	+	3	979	c.581G>A	c.(580-582)aGa>aAa	p.R194K	KCNQ5_ENST00000355635.3_Missense_Mutation_p.R194K|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R194K|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R194K|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R194K|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R194K|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R194K|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R194K	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	194					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)		TGGCAAGGAAGACTGAGGTTT	0.428													37	590					0	0	1	0	0	A	73751750	G	A	73751750	3	1	15	1	0	0	0	0	1	0	0	0	8130	942	33	2	591	2	KCNQ5	6	73751750	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	2505748	73751750	97363317	68	1383											
COL12A1	1303	broad.mit.edu	37	chr6	75884785	75884785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccttcaccaaagagggcGtctccagccccagacgcata	9	15	2	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:75884785G>A	ENST00000322507.8	-	13	2988	c.2679C>T	c.(2677-2679)gaC>gaT	p.D893D	COL12A1_ENST00000483888.2_Silent_p.D893D|COL12A1_ENST00000416123.2_Silent_p.D893D|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	893	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						CAAAGAGGGCGTCTCCAGCCC	0.468													35	545					0	0	1	0	0	A	75884785	G	A	75884785	2	1	15	1	0	0	0	0	0	0	0	1	3692	1136	40	1		1	COL12A1	6	75884785	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	2133035	75884785	95230282	69	1384											
PLEKHG1	57480	broad.mit.edu	37	chr6	151161016	151161017	+	Frame_Shift_Del	DEL	AG	AG	-													tgtatgaccagattgtattcAgagagtctcccttgaaaatt							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:151161016_151161017delAG	ENST00000367328.1	+	17	3454_3455	c.3142_3143delAG	c.(3142-3144)afs	p.R1048fs	PLEKHG1_ENST00000358517.2_Frame_Shift_Del_p.R1048fs	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1048					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)		GATTGTATTCAGAGAGTCTCCC	0.475													144	233	---	---	---	---						-	151161017	AG	-	151161016	7	5	15	1	0	1	0	1	0	0	0	0	12116	180	7	0	3200	0	PLEKHG1	6	151161016	Frame_Shift_Del	DEL	AG	TCGA-HV-A7OP-01A-11D-A33T-08	75276231	151161016	19954051	70	1385											
C6orf118	168090	broad.mit.edu	37	chr6	165715668	165715668	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcccggtggtctttctgaAgccgattcagaagtttcttc	9	12	4	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:165715668A>G	ENST00000230301.8	-	2	163	c.143T>C	c.(142-144)cTt>cCt	p.L48P	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	48										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)		GTCTTTCTGAAGCCGATTCAG	0.552													185	213					0	0	1	0	0	G	165715668	A	G	165715668	3	3	15	1	0	0	0	0	1	0	0	0	2337	72	3	3	1298	3	C6orf118	6	165715668	Missense_Mutation	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	14554652	165715668	5399399	71	1386											
HEATR2	54919	broad.mit.edu	37	chr7	803512	803512	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccaggacctctaccgcaagCacattggtcccctcctggag	10	16	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:803512C>G	ENST00000297440.6	+	8	1704	c.1684C>G	c.(1684-1686)Cac>Gac	p.H562D	HEATR2_ENST00000313147.5_Missense_Mutation_p.H562D	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	562							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)		CTACCGCAAGCACATTGGTCC	0.607													212	332					0	0	1	0	0	G	803512	C	G	803512	3	3	15	1	0	0	0	0	1	0	0	0	7069	710	25	5	1714	5	HEATR2	7	803512	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08		803512	158335151	72	1387											
IQCE	23288	broad.mit.edu	37	chr7	2634595	2634595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagagaaagaggattgcccGgaagttcctcataaggtaca	12	7	1	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:2634595G>A	ENST00000402050.2	+	16	1609	c.1425G>A	c.(1423-1425)ccG>ccA	p.P475P	IQCE_ENST00000325979.7_Silent_p.P410P|IQCE_ENST00000438376.2_Silent_p.P459P|IQCE_ENST00000404984.1_Silent_p.P424P	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	475										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)		AGGATTGCCCGGAAGTTCCTC	0.483													5	320					0	0	1	0	0	A	2634595	G	A	2634595	2	1	15	1	0	0	0	0	0	0	0	1	7850	1103	39	1		1	IQCE	7	2634595	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	1831083	2634595	156504068	73	1388											
DGKB	1607	broad.mit.edu	37	chr7	14661065	14661065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattttattcttgtcaatcaCtttgtttggctgctgggaac	8	8	3	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:14661065C>T	ENST00000403951.2	-	15	1644	c.1225G>A	c.(1225-1227)Gtg>Atg	p.V409M	DGKB_ENST00000407950.1_Missense_Mutation_p.V401M|DGKB_ENST00000258767.5_Missense_Mutation_p.V409M|DGKB_ENST00000406247.3_Missense_Mutation_p.V409M|DGKB_ENST00000444700.2_Missense_Mutation_p.V390M|DGKB_ENST00000402815.1_Missense_Mutation_p.V408M|DGKB_ENST00000399322.3_Missense_Mutation_p.V409M|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	409					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)	TTGTCAATCACTTTGTTTGGC	0.313													9	101					0	0	1	0	0	T	14661065	C	T	14661065	3	4	15	1	0	0	0	0	1	0	0	0	4494	565	20	2	1252	2	DGKB	7	14661065	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	12026470	14661065	144477598	74	1389											
ABCA13	154664	broad.mit.edu	37	chr7	48313734	48313734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaatttgagattttattaGctcttttaaatgattccaca	4	6	1	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:48313734G>A	ENST00000435803.1	+	17	4495	c.4471G>A	c.(4471-4473)Gct>Act	p.A1491T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1491					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						GATTTTATTAGCTCTTTTAAA	0.294													28	48					0	0	1	0	0	A	48313734	G	A	48313734	3	1	15	1	0	0	0	0	1	0	0	0	31	971	34	2	4366	2	ABCA13	7	48313734	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	33652669	48313734	110824929	75	1390											
ABCB1	5243	broad.mit.edu	37	chr7	87229495	87229495	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattgcggtccccttcaagAtccattccgacctgaagaga	8	14	1	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:87229495A>C	ENST00000265724.3	-	3	423	c.6T>G	c.(4-6)gaT>gaG	p.D2E	ABCB1_ENST00000543898.1_Missense_Mutation_p.D2E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	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)	CCCCTTCAAGATCCATTCCGA	0.458													13	104					0	0	1	0	0	C	87229495	A	C	87229495	3	2	15	1	0	0	0	0	1	0	0	0	40	330	12	3	3944	3	ABCB1	7	87229495	Missense_Mutation	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	38915761	87229495	71909168	76	1391											
AKAP9	10142	broad.mit.edu	37	chr7	91674456	91674456	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atctagtaaaagccagtcatCtgccagcctaatttggaggt	9	9	3	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:91674456C>A	ENST00000359028.2	+	22	5558	c.5333C>A	c.(5332-5334)tCt>tAt	p.S1778Y	AKAP9_ENST00000358100.2_Missense_Mutation_p.S1778Y|AKAP9_ENST00000356239.3_Missense_Mutation_p.S1766Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1778					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)			AGCCAGTCATCTGCCAGCCTA	0.418			T	BRAF	papillary thyroid								174	188					2.29794e-99	2.54038e-99	1	1	0	A	91674456	C	A	91674456	3	1	15	1	0	0	0	0	1	0	0	0	456	913	32	2	5379	2	AKAP9	7	91674456	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	4444961	91674456	67464207	77	1392											
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-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	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													8	891					0	0	1	0	0	G	99913460	A	G	99913460	2	3	15	1	0	0	0	0	0	0	0	1	15088	175	7	3		3	SPDYE3	7	99913460	Silent	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	8239004	99913460	59225203	78	1393											
MEPCE	56257	broad.mit.edu	37	chr7	100028823	100028825	+	In_Frame_Del	DEL	CCA	CCA	-													cgagggagttggggaggccgCcaccaccaccaccacccact					rs71555278		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:100028823_100028825delCCA	ENST00000310512.2	+	1	1570_1572	c.1182_1184delCCA	c.(1180-1185)cgc>cg	p.RH394del	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	394							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)					GGGGAGGCCGCCACCACCACCAC	0.581													11	346	---	---	---	---						-	100028825	CCA	-	100028823	7	5	15	1	0	1	0	1	0	0	0	0	9527	726	26	0	1184	0	MEPCE	7	100028823	In_Frame_Del	DEL	CCA	TCGA-HV-A7OP-01A-11D-A33T-08	115363	100028823	59109840	79	1394											
PIK3CG	5294	broad.mit.edu	37	chr7	106508584	106508584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtggccagccgcgaccCcaagctctacgccatgcacc	12	17	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:106508584C>T	ENST00000359195.3	+	2	888	c.578C>T	c.(577-579)cCc>cTc	p.P193L	PIK3CG_ENST00000440650.2_Missense_Mutation_p.P193L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.P193L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	193					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						AGCCGCGACCCCAAGCTCTAC	0.617													19	331					0	0	1	0	0	T	106508584	C	T	106508584	3	4	15	1	0	0	0	0	1	0	0	0	11964	623	22	2	580	2	PIK3CG	7	106508584	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	6479761	106508584	52630079	80	1395											
ZNF398	0	broad.mit.edu	37	chr7	148851398	148851398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaacttctggatcctgcGgctccctccaggtattaagg	11	12	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:148851398G>A	ENST00000475153.1	+	2	653	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.R134Q|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000491174.1_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	129					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)			TGGATCCTGCGGCTCCCTCCA	0.517													147	182					0	0	1	0	0	A	148851398	G	A	148851398	3	1	15	1	0	0	0	0	1	0	0	0	17942	1116	39	1	392	1	ZNF398	7	148851398	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	42342814	148851398	10287265	81	1396											
MCPH1	79648	broad.mit.edu	37	chr8	6301971	6301971	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgatctttgtggaaactcagGatgtggaaatcaggaaagga	13	4	3	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:6301971G>T	ENST00000344683.5	+	8	804	c.728G>T	c.(727-729)gGa>gTa	p.G243V	MCPH1_ENST00000519480.1_Missense_Mutation_p.G243V|MCPH1_ENST00000522905.1_Missense_Mutation_p.G195V	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	243						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GGAAACTCAGGATGTGGAAAT	0.338													65	193					1.38921e-15	1.49464e-15	1	1	0	T	6301971	G	T	6301971	3	4	15	1	0	0	0	0	1	0	0	0	9448	1174	41	2	758	2	MCPH1	8	6301971	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08		6301971	140062051	82	1397											
CPA6	57094	broad.mit.edu	37	chr8	68423884	68423884	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttttctgaagatcttctatGaggaccctgaatttggaatg	10	6	3	4			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:68423884G>A	ENST00000297770.4	-	4	539	c.324C>T	c.(322-324)ctC>ctT	p.L108L	CPA6_ENST00000518549.1_Silent_p.L108L|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	108					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.L108L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GATCTTCTATGAGGACCCTGA	0.383													217	316					0	0	1	0	0	A	68423884	G	A	68423884	2	1	15	1	0	0	0	0	0	0	0	1	3817	1277	45	2		2	CPA6	8	68423884	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	62121913	68423884	77940138	83	1398											
TRPS1	7227	broad.mit.edu	37	chr8	116599641	116599641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattttagagtctggagttaGcagattgtagaccctgaagt	11	6	1	4			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:116599641G>A	ENST00000395715.3	-	5	2864	c.2287C>T	c.(2287-2289)Cta>Tta	p.L763L	TRPS1_ENST00000520276.1_Silent_p.L754L|TRPS1_ENST00000519674.1_Silent_p.L750L|TRPS1_ENST00000519076.1_Silent_p.L504L|TRPS1_ENST00000220888.5_Silent_p.L750L	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	750	Mediates interaction with GLI3.				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)			TCTGGAGTTAGCAGATTGTAG	0.498									Langer-Giedion syndrome				123	775					0	0	1	0	0	A	116599641	G	A	116599641	2	1	15	1	0	0	0	0	0	0	0	1	16654	962	34	2		2	TRPS1	8	116599641	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	48175757	116599641	29764381	84	1399											
COLEC10	10584	broad.mit.edu	37	chr8	120118316	120118316	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaatgagggggaacccagCgacccctatggtcatgagga	15	9	1	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:120118316C>T	ENST00000332843.2	+	6	761	c.720C>T	c.(718-720)agC>agT	p.S240S		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	240	C-type lectin.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GGGAACCCAGCGACCCCTATG	0.493													108	155					0	0	1	0	0	T	120118316	C	T	120118316	2	4	15	1	0	0	0	0	0	0	0	1	3733	767	27	1		1	COLEC10	8	120118316	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	3518675	120118316	26245706	85	1400											
FAM135B	51059	broad.mit.edu	37	chr8	139145029	139145029	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggttgttgatcatttctGcataaactggccctgtaaag	11	7	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:139145029G>T	ENST00000395297.1	-	20	4198	c.4028C>A	c.(4027-4029)gCa>gAa	p.A1343E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1343										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)			GATCATTTCTGCATAAACTGG	0.493										HNSCC(54;0.14)			46	680					1.23103e-26	1.34243e-26	1	1	0	T	139145029	G	T	139145029	3	4	15	1	0	0	0	0	1	0	0	0	5480	1319	46	2	196	2	FAM135B	8	139145029	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	19026713	139145029	7218993	86	1401											
TIGD5	84948	broad.mit.edu	37	chr8	144680914	144680914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtaacggtgctgctggccGcaaacctgaccggcagccac	13	15	0	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:144680914G>A	ENST00000321385.3	+	1	841	c.694G>A	c.(694-696)Gca>Aca	p.A232T	TIGD5_ENST00000504548.2_Missense_Mutation_p.A281T			E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	281					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)			GCTGCTGGCCGCAAACCTGAC	0.756													3	40					0	0	1	0	0	A	144680914	G	A	144680914	3	1	15	1	0	0	0	0	1	0	0	0	15959	1087	38	1	843	1	TIGD5	8	144680914	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	5535885	144680914	1683108	87	1402											
GRINA	2907	broad.mit.edu	37	chr8	145066693	145066693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcatggtggtgctcttcAtcttcgccattctctgcatc	9	12	4	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:145066693A>G	ENST00000313269.5	+	6	1161	c.883A>G	c.(883-885)Atc>Gtc	p.I295V	GRINA_ENST00000395068.4_Missense_Mutation_p.I295V	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	295						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)			GGTGCTCTTCATCTTCGCCAT	0.617													60	88					0	0	1	0	0	G	145066693	A	G	145066693	3	3	15	1	0	0	0	0	1	0	0	0	6826	217	8	3	901	3	GRINA	8	145066693	Missense_Mutation	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	385779	145066693	1297329	88	1403											
FOXD4	2298	broad.mit.edu	37	chr9	118035	118035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttcctcctctcccaggaCatcgattttaccgtcttccc	4	17	3	0	rs142161808		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:118035C>T	ENST00000382500.2	-	1	382	c.85G>A	c.(85-87)Gtc>Atc	p.V29I		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	29					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)		TCTCCCAGGACATCGATTTTA	0.652													25	480					0	0	1	0	0	T	118035	C	T	118035	3	4	15	1	0	0	0	0	1	0	0	0	6032	478	17	2	1238	2	FOXD4	9	118035	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08		118035	141095396	89	1404											
UBAP2	55833	broad.mit.edu	37	chr9	33948659	33948659	+	Translation_Start_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggctttaaaacatatcaagTattttcacaagtatgttaaa	5	5	2	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:33948659T>C	ENST00000379225.1	-	0	305				UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000379238.1_Intron|UBAP2_ENST00000360802.1_Intron|UBAP2_ENST00000449054.1_Intron|UBAP2_ENST00000418786.2_Intron			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2											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)		ACATATCAAGTATTTTCACAA	0.294													65	66					0	0	1	0	0	C	33948659	T	C	33948659	1	2	15	1	0	0	0	0	0	0	0	0	16898	1653	57	3		3	UBAP2	9	33948659	Translation_Start_Site	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	33830624	33948659	107264772	90	1405											
NPR2	4882	broad.mit.edu	37	chr9	35800075	35800075	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgctatatgctgaagtcctGaatgagacaatacaggaagg	11	7	0	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:35800075G>T	ENST00000342694.2	+	4	1299	c.1044G>T	c.(1042-1044)ctG>ctT	p.L348L		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	348					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)	CTGAAGTCCTGAATGAGACAA	0.502													43	620					2.00842e-17	2.17053e-17	1	1	0	T	35800075	G	T	35800075	2	4	15	1	0	0	0	0	0	0	0	1	10643	1277	45	2		2	NPR2	9	35800075	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	1851416	35800075	105413356	91	1406											
VPS13A	23230	broad.mit.edu	37	chr9	79966268	79966268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagattccctccctcctgGtaaagccgtgttttatacat	7	11	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:79966268G>A	ENST00000360280.3	+	53	7585	c.7325G>A	c.(7324-7326)gGt>gAt	p.G2442D	VPS13A_ENST00000376636.3_Missense_Mutation_p.G2403D|VPS13A_ENST00000357409.5_Missense_Mutation_p.G2442D|VPS13A_ENST00000376634.4_Missense_Mutation_p.G2442D	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2442					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						CTCCCTCCTGGTAAAGCCGTG	0.408													39	453					0	0	1	0	0	A	79966268	G	A	79966268	3	1	15	1	0	0	0	0	1	0	0	0	17249	1261	44	2	7535	2	VPS13A	9	79966268	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	44166193	79966268	61247163	92	1407											
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-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	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													7	1252					0	0	1	0	0	A	80921289	G	A	80921289	3	1	15	1	0	0	0	0	1	0	0	0	12693	1087	38	1	475	1	PSAT1	9	80921289	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	955021	80921289	60292142	93	1408											
NOL8	55035	broad.mit.edu	37	chr9	95077502	95077502	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attatactcctcacctccttCagagtcagctaattctgatg	5	12	4	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:95077502C>T	ENST00000545558.1	-	7	1897	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	NOL8_ENST00000442668.2_Missense_Mutation_p.E469K|NOL8_ENST00000542053.1_Missense_Mutation_p.E401K|NOL8_ENST00000535387.1_Missense_Mutation_p.E469K|NOL8_ENST00000358855.4_Missense_Mutation_p.E401K			Q76FK4	NOL8_HUMAN	nucleolar protein 8	469					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						TCACCTCCTTCAGAGTCAGCT	0.443													71	109					0	0	1	0	0	T	95077502	C	T	95077502	3	4	15	1	0	0	0	0	1	0	0	0	10574	835	29	2	2142	2	NOL8	9	95077502	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	14156213	95077502	46135929	94	1409											
RABEPK	10244	broad.mit.edu	37	chr9	127996170	127996171	+	In_Frame_Ins	INS	-	-	AGA													tgactcacatgaggaaagccINSagactgctacactgctctgt							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:127996170_127996171insAGA	ENST00000373538.3	+	8	1340_1341	c.1030_1031insAGA	c.(1030-1032)gac>AGAgac	p.343_344insR	RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_In_Frame_Ins_p.292_293insR|RABEPK_ENST00000394125.4_In_Frame_Ins_p.343_344insR	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	343					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						TGAGGAAAGCCAGACTGCTACA	0.436													48	590	---	---	---	---						AGA	127996171	-	AGA	127996170	7	5	15	1	0	1	1	0	0	0	0	0	13015	595	21	0	1056	0	RABEPK	9	127996170	In_Frame_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	32918668	127996170	13217261	95	1410											
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-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	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													7	542					0	0	1	0	0	A	139266428	G	A	139266428	3	1	15	1	0	0	0	0	1	0	0	0	2670	1086	38	1	1608	1	CARD9	9	139266428	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	11270258	139266428	1947003	96	1411											
PIP4K2A	5305	broad.mit.edu	37	chr10	22862387	22862387	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgacattccactatgtaCtgcataggagagaaagaaaa	8	8	0	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:22862387C>T	ENST00000376573.4	-	5	721		c.e5-1		PIP4K2A_ENST00000323883.7_Splice_Site|PIP4K2A_ENST00000422321.1_Splice_Site|PIP4K2A_ENST00000545335.1_Splice_Site	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha								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						CCACTATGTACTGCATAGGAG	0.373													60	144					0	0	1	0	0	T	22862387	C	T	22862387	5	4	15	1	0	0	0	0	0	0	1	0	11984	579	20	2	752	2	PIP4K2A	10	22862387	Splice_Site	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08		22862387	112672360	97	1412											
KIAA1217	56243	broad.mit.edu	37	chr10	24816938	24816938	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagagtttgagaagctccTagaagaagctcaggccaata	11	7	1	4			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:24816938T>C	ENST00000376451.2	+	9	2281	c.2021T>C	c.(2020-2022)cTa>cCa	p.L674P	KIAA1217_ENST00000376452.3_Missense_Mutation_p.L956P|KIAA1217_ENST00000376462.1_Missense_Mutation_p.L911P|KIAA1217_ENST00000396445.1_Missense_Mutation_p.L674P|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000307544.6_Missense_Mutation_p.L674P|KIAA1217_ENST00000376454.3_Missense_Mutation_p.L991P|KIAA1217_ENST00000396446.1_Missense_Mutation_p.L674P|KIAA1217_ENST00000458595.1_Missense_Mutation_p.L956P			Q5T5P2	SKT_HUMAN	KIAA1217	991					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						GAGAAGCTCCTAGAAGAAGCT	0.473													19	579					0	0	1	0	0	C	24816938	T	C	24816938	3	2	15	1	0	0	0	0	1	0	0	0	8258	1522	53	3	3026	3	KIAA1217	10	24816938	Missense_Mutation	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	1954551	24816938	110717809	98	1413											
ANK3	288	broad.mit.edu	37	chr10	61834899	61834899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagtattgcggtcatccGcattaggtcctctttcattt	8	10	3	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:61834899G>A	ENST00000280772.1	-	37	5931	c.5740C>T	c.(5740-5742)Cgg>Tgg	p.R1914W	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)	1914					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						GCGGTCATCCGCATTAGGTCC	0.438													18	241					0	0	1	0	0	A	61834899	G	A	61834899	3	1	15	1	0	0	0	0	1	0	0	0	618	1086	38	1	7734	1	ANK3	10	61834899	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	37017961	61834899	73699848	99	1414											
CDH23	64072	broad.mit.edu	37	chr10	73472564	73472564	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atccctgaaggccacagcatCttgcaggcaggtggcccgtg	13	13	1	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:73472564C>A	ENST00000224721.6	+	27	3383	c.3378C>A	c.(3376-3378)atC>atA	p.I1126I	C10orf105_ENST00000441508.2_3'UTR|C10orf105_ENST00000398786.2_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1121	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						GCCACAGCATCTTGCAGGCAG	0.642													64	49					2.05175e-36	2.2476e-36	1	1	0	A	73472564	C	A	73472564	2	1	15	1	0	0	0	0	0	0	0	1	3130	903	32	2		2	CDH23	10	73472564	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	11637665	73472564	62062183	100	1415											
SEC24C	9632	broad.mit.edu	37	chr10	75527671	75527671	+	Missense_Mutation	SNP	T	T	A													ccaaggctgctgtgtagatcTctttctcttccctaaccagt							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:75527671T>A	ENST00000339365.2	+	16	2249	c.2087T>A	c.(2086-2088)cTc>cAc	p.L696H	SEC24C_ENST00000411652.2_Missense_Mutation_p.L577H|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.L696H|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000496827.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	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	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)					TGTGTAGATCTCTTTCTCTTC	0.522													9	483					0	0	1	0	0	A	75527671	T	A	75527671	3	1	15	1	0	0	0	0	1	0	0	0	14050	1551	54	5	2141	5	SEC24C	10	75527671	Missense_Mutation	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	2055107	75527671	60007076	101	1416	14	2									
SEC24C	9632	broad.mit.edu	37	chr10	75527672	75527672	+	Silent	SNP	C	C	T													caaggctgctgtgtagatctCtttctcttccctaaccagta							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:75527672C>T	ENST00000339365.2	+	16	2250	c.2088C>T	c.(2086-2088)ctC>ctT	p.L696L	SEC24C_ENST00000411652.2_Silent_p.L577L|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Silent_p.L696L|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000496827.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	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	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)					GTGTAGATCTCTTTCTCTTCC	0.522													8	478					0	0	1	0	0	T	75527672	C	T	75527672	2	4	15	1	0	0	0	0	0	0	0	1	14050	900	32	2		2	SEC24C	10	75527672	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	1	75527672	60007075	102	1417	14	2									
SH2D4B	387694	broad.mit.edu	37	chr10	82331253	82331253	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccaatgagaaagcccggatCttggcggagaagtggaaagt	15	7	1	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:82331253C>T	ENST00000339284.2	+	3	844	c.414C>T	c.(412-414)atC>atT	p.I138I	SH2D4B_ENST00000313455.4_Silent_p.I89I|SH2D4B_ENST00000470604.2_Silent_p.I137I	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	137	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			AAGCCCGGATCTTGGCGGAGA	0.557													47	317					0	0	1	0	0	T	82331253	C	T	82331253	2	4	15	1	0	0	0	0	0	0	0	1	14290	903	32	2		2	SH2D4B	10	82331253	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	6803581	82331253	53203494	103	1418											
IFIT1	3434	broad.mit.edu	37	chr10	91162380	91162380	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agactggcagaagcccagacTtacctggacaaggtggagaa	13	9	0	4			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:91162380T>A	ENST00000546318.1	+	2	1542	c.255T>A	c.(253-255)acT>acA	p.T85T	IFIT1_ENST00000371804.3_Silent_p.T116T|LIPA_ENST00000371837.1_Intron	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	116					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						AAGCCCAGACTTACCTGGACA	0.493													77	185					0	0	1	0	0	A	91162380	T	A	91162380	2	1	15	1	0	0	0	0	0	0	0	1	7565	1596	56	5		5	IFIT1	10	91162380	Silent	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	8831127	91162380	44372367	104	1419											
KIF20B	9585	broad.mit.edu	37	chr10	91498335	91498337	+	In_Frame_Del	DEL	AAG	AAG	-													gaaacatttacttcaattaaAagaagaagaagaagaaacca							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:91498335_91498337delAAG	ENST00000416354.1	+	20	3899_3901	c.3827_3829delAAG	c.(3826-3831)aaa>a	p.KE1276del	KIF20B_ENST00000394289.2_In_Frame_Del_p.KE1246del|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_In_Frame_Del_p.KE1206del|KIF20B_ENST00000371728.3_In_Frame_Del_p.KE1246del			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1246					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						CTTCAATTAAAAGAAGAAGAAGA	0.276													7	297	---	---	---	---						-	91498337	AAG	-	91498335	7	5	15	1	0	1	0	1	0	0	0	0	8329	14	1	0	3691	0	KIF20B	10	91498335	In_Frame_Del	DEL	AAG	TCGA-HV-A7OP-01A-11D-A33T-08	335955	91498335	44036412	105	1420											
HECTD2	143279	broad.mit.edu	37	chr10	93221081	93221081	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atttttatctaacaacgtttGattctttcccagaattaaat	3	7	2	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:93221081G>A	ENST00000446394.1	+	4	578	c.478G>A	c.(478-480)Gat>Aat	p.D160N	HECTD2_ENST00000371681.4_Missense_Mutation_p.D160N|HECTD2_ENST00000298068.5_Missense_Mutation_p.D160N			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	160					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						AACAACGTTTGATTCTTTCCC	0.269													20	593					0	0	1	0	0	A	93221081	G	A	93221081	3	1	15	1	0	0	0	0	1	0	0	0	7081	1290	45	2	492	2	HECTD2	10	93221081	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	1722746	93221081	42313666	106	1421											
PDZD7	79955	broad.mit.edu	37	chr10	102789811	102789811	+	Frame_Shift_Del	DEL	G	G	-													cgatgaggctcggattccgcGggggggcccgttcagcagcc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:102789811delG	ENST00000370215.3	-	2	391	c.166delC	c.(166-168)gcfs	p.R56fs	PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	56						cilium|nucleus	protein binding	p.R56C(1)		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)		CGGATTCCGCGGGGGGGCCCG	0.667													7	679	---	---	---	---						-	102789811	G	-	102789811	7	5	15	1	0	1	0	1	0	0	0	0	11751	1116	39	0	1423	0	PDZD7	10	102789811	Frame_Shift_Del	DEL	G	TCGA-HV-A7OP-01A-11D-A33T-08	9568730	102789811	32744936	107	1422											
PSD	5662	broad.mit.edu	37	chr10	104176584	104176584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggggtgagggggggccaCgcagaggtgtacagggtgct	21	8	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:104176584C>T	ENST00000020673.5	-	2	738	c.212G>A	c.(211-213)cGt>cAt	p.R71H	PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Missense_Mutation_p.R71H	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	71	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)		GGGGGGGCCACGCAGAGGTGT	0.672													141	392					0	0	1	0	0	T	104176584	C	T	104176584	3	4	15	1	0	0	0	0	1	0	0	0	12695	536	19	1	2926	1	PSD	10	104176584	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	1386773	104176584	31358163	108	1423											
INA	9118	broad.mit.edu	37	chr10	105048170	105048170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccagtgggttaagcatttCggggctgaatccacttccca	10	12	0	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:105048170C>T	ENST00000369849.4	+	3	1293	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	415	Tail.				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)		TTAAGCATTTCGGGGCTGAAT	0.453													248	470					0	0	1	0	0	T	105048170	C	T	105048170	3	4	15	1	0	0	0	0	1	0	0	0	7774	893	31	1	1254	1	INA	10	105048170	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	871586	105048170	30486577	109	1424											
HSPA12A	259217	broad.mit.edu	37	chr10	118460624	118460624	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgattggacacaccagggtCacctccctcccatcgcctgc	8	18	1	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:118460624C>T	ENST00000369209.3	-	4	375	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	91							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)		ACACCAGGGTCACCTCCCTCC	0.527													18	414					0	0	1	0	0	T	118460624	C	T	118460624	3	4	15	1	0	0	0	0	1	0	0	0	7447	826	29	2	1792	2	HSPA12A	10	118460624	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	13412454	118460624	17074123	110	1425											
CTBP2	1488	broad.mit.edu	37	chr10	126682516	126682516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttctcgtccaccaggccGccacgggctgcgttcacaag	11	16	2	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:126682516G>A	ENST00000309035.6	-	6	2569	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000531469.1_Silent_p.G273G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					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)		CCACCAGGCCGCCACGGGCTG	0.582													6	979					0	0	1	0	0	A	126682516	G	A	126682516	2	1	15	1	0	0	0	0	0	0	0	1	4022	1074	38	1		1	CTBP2	10	126682516	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	8221892	126682516	8852231	111	1426											
C10orf90	118611	broad.mit.edu	37	chr10	128193005	128193005	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctggacactgctgagacaccCtgaggtggacacaggaactg	13	11	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:128193005C>G	ENST00000284694.7	-	3	884	c.764G>C	c.(763-765)aGg>aCg	p.R255T	C10orf90_ENST00000392694.1_Missense_Mutation_p.R208T|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000454341.1_Missense_Mutation_p.R255T|C10orf90_ENST00000356858.3_Missense_Mutation_p.R208T|C10orf90_ENST00000544758.1_Missense_Mutation_p.R352T	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	255										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)		CTGAGACACCCTGAGGTGGAC	0.522											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	155	340					0	0	1	0	0	G	128193005	C	G	128193005	3	3	15	1	0	0	0	0	1	0	0	0	1627	681	24	5	1363	5	C10orf90	10	128193005	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	1510489	128193005	7341742	112	1427											
MKI67	4288	broad.mit.edu	37	chr10	129913974	129913974	+	Frame_Shift_Del	DEL	T	T	-													gcttccaaaagggagattcaTtttttttgctattgtcaaga							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:129913974delT	ENST00000368654.3	-	7	1073	c.698delA	c.(697-699)atfs	p.N233fs	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	233					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)				GGGAGATTCATTTTTTTTGCT	0.343													8	272	---	---	---	---						-	129913974	T	-	129913974	7	5	15	1	0	1	0	1	0	0	0	0	9646	1493	52	0	9108	0	MKI67	10	129913974	Frame_Shift_Del	DEL	T	TCGA-HV-A7OP-01A-11D-A33T-08	1720969	129913974	5620773	113	1428											
TCERG1L	256536	broad.mit.edu	37	chr10	132915167	132915167	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcctctctctttgcctcCtctggcttgggactcccgca	8	16	3	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:132915167C>T	ENST00000368642.4	-	9	1375	c.1290G>A	c.(1288-1290)gaG>gaA	p.E430E		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	430										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)		TCTTTGCCTCCTCTGGCTTGG	0.582													21	53					0	0	1	0	0	T	132915167	C	T	132915167	2	4	15	1	0	0	0	0	0	0	0	1	15746	680	24	2		2	TCERG1L	10	132915167	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	3001193	132915167	2619580	114	1429											
EPS8L2	64787	broad.mit.edu	37	chr11	720113	720113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagccatcacgtctgtggacGacgccatccggaagctggtg	13	12	2	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:720113G>A	ENST00000533256.1	+	6	592	c.217G>A	c.(217-219)Gac>Aac	p.D73N	EPS8L2_ENST00000526198.1_Missense_Mutation_p.D73N|EPS8L2_ENST00000530636.1_Missense_Mutation_p.D73N|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Missense_Mutation_p.D73N			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	73	PID.					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)		GTCTGTGGACGACGCCATCCG	0.612													5	117					0	0	1	0	0	A	720113	G	A	720113	3	1	15	1	0	0	0	0	1	0	0	0	5224	1058	37	1	231	1	EPS8L2	11	720113	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08		720113	134286403	115	1430											
KCNC1	3746	broad.mit.edu	37	chr11	17794108	17794108	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcagagtgacacatgtccGctggcccaggaagaaatttt	10	10	1	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:17794108G>A	ENST00000379472.3	+	2	1497	c.1467G>A	c.(1465-1467)ccG>ccA	p.P489P	KCNC1_ENST00000265969.6_Silent_p.P489P	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	489						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						ACACATGTCCGCTGGCCCAGG	0.478													4	263					0	0	1	0	0	A	17794108	G	A	17794108	2	1	15	1	0	0	0	0	0	0	0	1	8058	1074	38	1		1	KCNC1	11	17794108	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	17073995	17794108	117212408	116	1431											
NAV2	89797	broad.mit.edu	37	chr11	20122572	20122572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtctccctcctgatagagCaccgtcggatcattctctct	7	15	4	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:20122572C>T	ENST00000396085.1	+	33	6641	c.6280C>T	c.(6280-6282)Cac>Tac	p.H2094Y	NAV2_ENST00000527559.2_Missense_Mutation_p.H2079Y|NAV2_ENST00000396087.3_Missense_Mutation_p.H2150Y|NAV2_ENST00000533917.1_Missense_Mutation_p.H1155Y|NAV2_ENST00000311043.8_Missense_Mutation_p.H1155Y|NAV2_ENST00000360655.4_Missense_Mutation_p.H2027Y|NAV2_ENST00000349880.4_Missense_Mutation_p.H2091Y|NAV2_ENST00000540292.1_Missense_Mutation_p.H2081Y	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2150						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						CCTGATAGAGCACCGTCGGAT	0.567													5	387					0	0	1	0	0	T	20122572	C	T	20122572	3	4	15	1	0	0	0	0	1	0	0	0	10232	710	25	2	6515	2	NAV2	11	20122572	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	2328464	20122572	114883944	117	1432											
EHF	26298	broad.mit.edu	37	chr11	34668171	34668172	+	Frame_Shift_Ins	INS	-	-	G													gagtttgcaggagttcacccINSgggcggcagggacggcgggg							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:34668171_34668172insG	ENST00000257831.3	+	3	404_405	c.283_284insG	c.(283-285)ggcfs	p.G95fs	EHF_ENST00000531794.1_Frame_Shift_Ins_p.G117fs|EHF_ENST00000533754.1_Frame_Shift_Ins_p.G95fs|EHF_ENST00000527935.1_Frame_Shift_Ins_p.G95fs|EHF_ENST00000450654.2_Frame_Shift_Ins_p.G95fs|EHF_ENST00000531728.1_Frame_Shift_Ins_p.G95fs|EHF_ENST00000530286.1_Frame_Shift_Ins_p.G95fs	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	95	PNT.				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GGAGTTCACCCGGGCGGCAGGG	0.574													356	326	---	---	---	---						G	34668172	-	G	34668171	7	5	15	1	0	1	1	0	0	0	0	0	5007	643	23	0	289	0	EHF	11	34668171	Frame_Shift_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	14545599	34668171	100338345	118	1433											
OR5L1	219437	broad.mit.edu	37	chr11	55579038	55579038	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcttcctgctgttcctTctcatctatggagtcacgtt	7	13	4	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:55579038T>A	ENST00000333973.2	+	1	185	c.96T>A	c.(94-96)ctT>ctA	p.L32L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	32					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)				TGCTGTTCCTTCTCATCTATG	0.512													62	626					0	0	1	0	0	A	55579038	T	A	55579038	2	1	15	1	0	0	0	0	0	0	0	1	11217	1770	62	5		5	OR5L1	11	55579038	Silent	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	20910867	55579038	79427478	119	1434											
TIGD3	220359	broad.mit.edu	37	chr11	65123359	65123368	+	Frame_Shift_Del	DEL	CCAAGATGTC	CCAAGATGTC	-													gctggaactcctggatgagtCcaagatgtcccagtcggagg							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:65123359_65123368delCCAAGATGTC	ENST00000309880.5	+	2	287_296	c.80_89delCCAAGATGTC	c.(79-90)tcfs	p.SKMS27fs		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	27	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CTGGATGAGTCCAAGATGTCCCAGTCGGAG	0.619													13	303	---	---	---	---						-	65123368	CCAAGATGTC	-	65123359	7	5	15	1	0	1	0	1	0	0	0	0	15957	855	30	0	82	0	TIGD3	11	65123359	Frame_Shift_Del	DEL	CCAAGATGTC	TCGA-HV-A7OP-01A-11D-A33T-08	9544321	65123359	69883157	120	1435											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238416	71238436	+	In_Frame_Del	DEL	TGTGGCTCTGGCTGTGGGGGA	TGTGGCTCTGGCTGTGGGGGA	-													gtggctccggctgtgggggcTgtggctctggctgtggggga					rs71931178		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:71238416_71238436delTGTGGCTCTGGCTGTGGGGGA	ENST00000398536.4	+	1	104_124	c.70_90delTGTGGCTCTGGCTGTGGGGGA	c.(70-90)del	p.CGSGCGG24del		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	24						keratin filament		p.G30G(1)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CTGTGGGGGCTGTGGCTCTGGCTGTGGGGGATGTGGCTCCA	0.665													7	960	---	---	---	---						-	71238436	TGTGGCTCTGGCTGTGGGGGA	-	71238416	7	5	15	1	0	1	0	1	0	0	0	0	8605	1580	55	0	72	0	KRTAP5-7	11	71238416	In_Frame_Del	DEL	TGTGGCTCTGGCTGTGGGGGA	TCGA-HV-A7OP-01A-11D-A33T-08	6115057	71238416	63768100	121	1436											
GRIA4	0	broad.mit.edu	37	chr11	105483022	105483022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtctcttcatccgaaaCacagatcaggaatacactgc	9	11	3	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:105483022C>T	ENST00000393127.2	+	3	554	c.108C>T	c.(106-108)aaC>aaT	p.N36N	GRIA4_ENST00000393125.2_Silent_p.N36N|GRIA4_ENST00000282499.5_Silent_p.N36N|GRIA4_ENST00000527669.1_Silent_p.N36N|GRIA4_ENST00000428631.2_Silent_p.N36N|GRIA4_ENST00000530497.1_Silent_p.N36N|GRIA4_ENST00000525187.1_Silent_p.N36N	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	36					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)	TCATCCGAAACACAGATCAGG	0.418													13	215					0	0	1	0	0	T	105483022	C	T	105483022	2	4	15	1	0	0	0	0	0	0	0	1	6811	477	17	2		2	GRIA4	11	105483022	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	34244606	105483022	29523494	122	1437											
C1R	715	broad.mit.edu	37	chr12	7241475	7241475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagccccggctgtccccCgactcatctgtgaagaacag	9	16	2	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:7241475C>T	ENST00000542285.1	-	6	1022	c.873G>A	c.(871-873)tcG>tcA	p.S291S				P00736	C1R_HUMAN	complement component 1, r subcomponent	292	CUB 2.				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)	GGCTGTCCCCCGACTCATCTG	0.607													8	34					0	0	1	0	0	T	7241475	C	T	7241475	2	4	15	1	0	0	0	0	0	0	0	1	1985	639	23	1		1	C1R	12	7241475	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08		7241475	126610420	123	1438											
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-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	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)			40	8					0	0	1	0	0	T	25398284	C	T	25398284	3	4	15	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	18156809	25398284	108453611	124	1439											
ALG10B	144245	broad.mit.edu	37	chr12	38714204	38714204	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggaatgtcattgcacaaaAgttaactgaggcttggaaaa	11	5	1	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:38714204A>T	ENST00000308742.4	+	3	927	c.611A>T	c.(610-612)aAg>aTg	p.K204M	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	204					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)				ATTGCACAAAAGTTAACTGAG	0.388													111	318					0	0	1	0	0	T	38714204	A	T	38714204	3	4	15	1	0	0	0	0	1	0	0	0	509	72	3	5	621	5	ALG10B	12	38714204	Missense_Mutation	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	13315920	38714204	95137691	125	1440											
CYP27B1	1594	broad.mit.edu	37	chr12	58158695	58158695	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgcctctgcctctcgccgctCcacgtgcctctgagctgcgt	10	18	3	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:58158695C>G	ENST00000228606.4	-	5	1014	c.805G>C	c.(805-807)Gag>Cag	p.E269Q		NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	269					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	TCTCGCCGCTCCACGTGCCTC	0.607													156	30					0	0	1	0	0	G	58158695	C	G	58158695	3	3	15	1	0	0	0	0	1	0	0	0	4182	864	30	5	741	5	CYP27B1	12	58158695	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	19444491	58158695	75693200	126	1441											
POLR3B	55703	broad.mit.edu	37	chr12	106826185	106826185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttaaattagccagtaacttGggagtagaagatgtgaattt	11	3	0	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:106826185G>A	ENST00000228347.4	+	15	1776	c.1554G>A	c.(1552-1554)ttG>ttA	p.L518L	POLR3B_ENST00000539066.1_Silent_p.L460L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	518					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						CCAGTAACTTGGGAGTAGAAG	0.373													48	214					0	0	1	0	0	A	106826185	G	A	106826185	2	1	15	1	0	0	0	0	0	0	0	1	12277	1339	47	2		2	POLR3B	12	106826185	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	48667490	106826185	27025710	127	1442											
ARPC3	10094	broad.mit.edu	37	chr12	110874388	110874388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtttgtttgcaggtttgGcataaattgcgttaagtgga	12	5	0	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:110874388G>A	ENST00000228825.7	-	5	499	c.353C>T	c.(352-354)gCc>gTc	p.A118V	RP11-478C19.2_ENST00000550231.1_RNA	NM_001278556.1|NM_005719.2	NP_001265485.1|NP_005710.1	O15145	ARPC3_HUMAN	actin related protein 2/3 complex, subunit 3, 21kDa	118					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			lung(1)|ovary(1)	2						TGCAGGTTTGGCATAAATTGC	0.423													4	273					0	0	1	0	0	A	110874388	G	A	110874388	3	1	15	1	0	0	0	0	1	0	0	0	971	1203	42	2	195	2	ARPC3	12	110874388	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	4048203	110874388	22977507	128	1443											
HPD	3242	broad.mit.edu	37	chr12	122285009	122285009	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggctcattgatgggcatcttGatggactcttcatagttggc	12	8	4	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:122285009G>A	ENST00000543163.1	-	11	1036	c.591C>T	c.(589-591)atC>atT	p.I197I	HPD_ENST00000289004.4_Silent_p.I236I|HPD_ENST00000543869.2_5'UTR	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	236					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)	TGGGCATCTTGATGGACTCTT	0.592													72	237					0	0	1	0	0	A	122285009	G	A	122285009	2	1	15	1	0	0	0	0	0	0	0	1	7373	1280	45	2		2	HPD	12	122285009	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	11410621	122285009	11566886	129	1444											
TNFRSF19	55504	broad.mit.edu	37	chr13	24200926	24200926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcctcctccttacgaacCgcactgtgagtgaacgcaac	7	17	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:24200926C>T	ENST00000382263.3	+	5	624	c.440C>T	c.(439-441)cCg>cTg	p.P147L	TNFRSF19_ENST00000382258.4_Missense_Mutation_p.P147L|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.P15L|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.P147L	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	147					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)		CCTTACGAACCGCACTGTGAG	0.463													60	180					0	0	1	0	0	T	24200926	C	T	24200926	3	4	15	1	0	0	0	0	1	0	0	0	16352	652	23	1	454	1	TNFRSF19	13	24200926	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08		24200926	90968952	130	1445											
ATP8A2	51761	broad.mit.edu	37	chr13	26273464	26273464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggatttggcactctcgtgcAaagcggtcatatgctgcagg	13	9	2	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:26273464A>G	ENST00000381655.2	+	25	2507	c.2365A>G	c.(2365-2367)Aaa>Gaa	p.K789E	ATP8A2_ENST00000255283.8_Missense_Mutation_p.K749E|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	749					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)		ACTCTCGTGCAAAGCGGTCAT	0.532													8	201					0	0	1	0	0	G	26273464	A	G	26273464	3	3	15	1	0	0	0	0	1	0	0	0	1191	131	5	3	2463	3	ATP8A2	13	26273464	Missense_Mutation	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	2072538	26273464	88896414	131	1446											
B3GALTL	145173	broad.mit.edu	37	chr13	31858882	31858882	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctactgtggatttgggaatTcctaatacagatagaggtga	11	6	0	3			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:31858882T>A	ENST00000343307.4	+	11	1097	c.948T>A	c.(946-948)atT>atA	p.I316I	B3GALTL_ENST00000461652.2_3'UTR	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	316					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		ATTTGGGAATTCCTAATACAG	0.348													18	185					0	0	1	0	0	A	31858882	T	A	31858882	2	1	15	1	0	0	0	0	0	0	0	1	1250	1771	62	5		5	B3GALTL	13	31858882	Silent	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	5585418	31858882	83310996	132	1447											
FREM2	341640	broad.mit.edu	37	chr13	39454821	39454821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgcagtgctgatgtgcaGgggcaaggaaagtttcaggg	16	6	1	1	rs142012270		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:39454821G>A	ENST00000280481.7	+	24	9623	c.9407G>A	c.(9406-9408)aGg>aAg	p.R3136K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	3136					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)		CTGATGTGCAGGGGCAAGGAA	0.582													9	306					0	0	1	0	0	A	39454821	G	A	39454821	3	1	15	1	0	0	0	0	1	0	0	0	6080	1000	35	2	9501	2	FREM2	13	39454821	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	7595939	39454821	75715057	133	1448											
KBTBD7	84078	broad.mit.edu	37	chr13	41767432	41767434	+	In_Frame_Del	DEL	CTG	CTG	-													caagagagttgctgctgctaCtgctgctgctgctgtttggc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:41767432_41767434delCTG	ENST00000379483.3	-	1	1268_1270	c.960_962delCAG	c.(958-963)agt>ag	p.SS322del		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	322							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)		gctgctgctactgctgctgctgc	0.512													10	195	---	---	---	---						-	41767434	CTG	-	41767432	7	5	15	1	0	1	0	1	0	0	0	0	8042	565	20	0	1096	0	KBTBD7	13	41767432	In_Frame_Del	DEL	CTG	TCGA-HV-A7OP-01A-11D-A33T-08	2312611	41767432	73402446	134	1449											
DIAPH3	81624	broad.mit.edu	37	chr13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T													aatacaaaaaaatctgtcaaINStttttttttcttcaccagct							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)tgafs	p.*320fs	DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	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)		AAATCTGTCAATTTTTTTTTCT	0.322													9	689	---	---	---	---						T	60582734	-	T	60582733	7	5	15	1	0	1	1	0	0	0	0	0	4548	101	4	0	2722	0	DIAPH3	13	60582733	Frame_Shift_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	18815301	60582733	54587145	135	1450											
SLITRK6	84189	broad.mit.edu	37	chr13	86370131	86370131	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttggaggaagactctcaatAgcattgtcatttaaaattaa	7	5	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:86370131A>T	ENST00000400286.2	-	2	1111	c.513T>A	c.(511-513)gcT>gcA	p.A171A		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	171						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GACTCTCAATAGCATTGTCAT	0.368													179	430					0	0	1	0	0	T	86370131	A	T	86370131	2	4	15	1	0	0	0	0	0	0	0	1	14801	407	15	5		5	SLITRK6	13	86370131	Silent	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	25787398	86370131	28799747	136	1451											
SLITRK5	26050	broad.mit.edu	37	chr13	88330019	88330021	+	In_Frame_Del	DEL	GCA	GCA	-													tacagcagcaaccaccacctGcagcagcagcagcagccgcc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:88330019_88330021delGCA	ENST00000325089.6	+	2	2595_2597	c.2376_2378delGCA	c.(2374-2379)ctg>ct	p.LQ792del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.LQ551del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	792						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)					ACCACCACCTgcagcagcagcag	0.655													8	315	---	---	---	---						-	88330021	GCA	-	88330019	7	5	15	1	0	1	0	1	0	0	0	0	14800	1306	46	0	2378	0	SLITRK5	13	88330019	In_Frame_Del	DEL	GCA	TCGA-HV-A7OP-01A-11D-A33T-08	1959888	88330019	26839859	137	1452											
TPP2	7174	broad.mit.edu	37	chr13	103298740	103298740	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgacatataactttcatcaAgtaagtgtttgcctagtaaa	6	7	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:103298740A>C	ENST00000376052.3	+	20	2506	c.2490_splice	c.e20+1	p.Q830_splice	TPP2_ENST00000376065.4_Splice_Site_p.Q830_splice			P29144	TPP2_HUMAN	tripeptidyl peptidase II	830					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)					ACTTTCATCAAGTAAGTGTTT	0.343													52	111					0	0	1	0	0	C	103298740	A	C	103298740	5	2	15	1	0	0	0	0	0	0	1	0	16473	86	3	3	2568	3	TPP2	13	103298740	Splice_Site	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	14968721	103298740	11871138	138	1453											
PRKD1	5587	broad.mit.edu	37	chr14	30047559	30047559	+	Frame_Shift_Del	DEL	A	A	-													tgcagcaaattgttgataagAtcaatggctgaaaaaaatta							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:30047559delA	ENST00000331968.5	-	17	2671	c.2442delT	c.(2440-2442)gafs	p.D814fs	PRKD1_ENST00000415220.2_Frame_Shift_Del_p.D822fs	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	814	Protein kinase.				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)		TGTTGATAAGATCAATGGCTG	0.333													18	59	---	---	---	---						-	30047559	A	-	30047559	7	5	15	1	0	1	0	1	0	0	0	0	12570	330	12	0	304	0	PRKD1	14	30047559	Frame_Shift_Del	DEL	A	TCGA-HV-A7OP-01A-11D-A33T-08		30047559	77301981	139	1454											
EGLN3	112399	broad.mit.edu	37	chr14	34419830	34419830	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgcttgacgcgctccagGacgcagtcgcccaccacctc	10	18	0	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:34419830G>A	ENST00000547327.2	-	1	457	c.129C>T	c.(127-129)gtC>gtT	p.V43V	EGLN3_ENST00000250457.3_Silent_p.V43V|EGLN3_ENST00000553215.1_Intron			Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	43					apoptosis	cytoplasm|nucleus	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|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	CGCGCTCCAGGACGCAGTCGC	0.692													18	103					0	0	1	0	0	A	34419830	G	A	34419830	2	1	15	1	0	0	0	0	0	0	0	1	4996	1161	41	2		2	EGLN3	14	34419830	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	4372271	34419830	72929710	140	1455											
SSTR1	0	broad.mit.edu	37	chr14	38678919	38678919	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgatgagctgctcatgCtcagcgtgcccttcctagtc	10	13	2	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:38678919C>A	ENST00000267377.2	+	3	942	c.325C>A	c.(325-327)Ctc>Atc	p.L109I		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	109					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)	GCTGCTCATGCTCAGCGTGCC	0.567													5	375					0.0293803	0.0296262	1	1	0	A	38678919	C	A	38678919	3	1	15	1	0	0	0	0	1	0	0	0	15253	797	28	2	327	2	SSTR1	14	38678919	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	4259089	38678919	68670621	141	1456											
C14orf105	55195	broad.mit.edu	37	chr14	57938236	57938237	+	Frame_Shift_Ins	INS	-	-	T													ttcatgaagccatgtttccaINSttttgccaattttccaggga							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:57938236_57938237insT	ENST00000216445.3	-	6	863_864	c.727_728insA	c.(727-729)ggafs	p.G243fs	C14orf105_ENST00000534126.1_Frame_Shift_Ins_p.G242fs|C14orf105_ENST00000422976.2_Frame_Shift_Ins_p.G283fs	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	243										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CCATGTTTCCATTTTGCCAATT	0.396													53	17	---	---	---	---						T	57938237	-	T	57938236	7	5	15	1	0	1	1	0	0	0	0	0	1743	217	8	0	166	0	C14orf105	14	57938236	Frame_Shift_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	19259317	57938236	49411304	142	1457											
THBS1	7057	broad.mit.edu	37	chr15	39885651	39885651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaccttcttcatcaacaccGaaagggacgatgactatgct	8	12	3	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:39885651G>A	ENST00000260356.5	+	19	3214	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1017	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)	CATCAACACCGAAAGGGACGA	0.493													6	545					0	0	1	0	0	A	39885651	G	A	39885651	3	1	15	1	0	0	0	0	1	0	0	0	15913	1059	37	1	3119	1	THBS1	15	39885651	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08		39885651	62645741	143	1458											
PLCB2	5330	broad.mit.edu	37	chr15	40591062	40591062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgcacctggtcaggccGtgctggcgggaacagcaggg	17	13	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:40591062G>A	ENST00000260402.3	-	9	1036	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	PLCB2_ENST00000456256.2_Missense_Mutation_p.R263W|PLCB2_ENST00000557821.1_Missense_Mutation_p.R263W	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	263					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)		TGGTCAGGCCGTGCTGGCGGG	0.577													17	201					0	0	1	0	0	A	40591062	G	A	40591062	3	1	15	1	0	0	0	0	1	0	0	0	12076	1144	40	1	2866	1	PLCB2	15	40591062	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	705411	40591062	61940330	144	1459											
SMAD3	4088	broad.mit.edu	37	chr15	67482873	67482873	+	Nonstop_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgttccagtgtgtcttAgagacatcaagtatggtagg	12	8	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:67482873A>T	ENST00000327367.4	+	9	1587	c.1277A>T	c.(1276-1278)tAg>tTg	p.*426L	SMAD3_ENST00000537194.2_Nonstop_Mutation_p.*231L|SMAD3_ENST00000439724.3_Nonstop_Mutation_p.*382L|SMAD3_ENST00000540846.2_Nonstop_Mutation_p.*321L	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	0					activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		AGTGTGTCTTAGAGACATCAA	0.537													62	18					0	0	1	0	0	T	67482873	A	T	67482873	4	4	15	1	0	0	0	0	0	0	0	0	14813	433	15	5	1389	5	SMAD3	15	67482873	Nonstop_Mutation	SNP	A	TCGA-HV-A7OP-01A-11D-A33T-08	26891811	67482873	35048519	145	1460											
SIN3A	25942	broad.mit.edu	37	chr15	75664478	75664478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgccatttcacggggcaCatgctccttggtccatttat	9	12	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:75664478C>T	ENST00000394947.3	-	21	3978	c.3664G>A	c.(3664-3666)Gtg>Atg	p.V1222M	SIN3A_ENST00000360439.4_Missense_Mutation_p.V1222M|SIN3A_ENST00000394949.4_Missense_Mutation_p.V1222M	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	1222					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						TCACGGGGCACATGCTCCTTG	0.517													32	223					0	0	1	0	0	T	75664478	C	T	75664478	3	4	15	1	0	0	0	0	1	0	0	0	14380	478	17	2	161	2	SIN3A	15	75664478	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	8181605	75664478	26866914	146	1461											
MVP	9961	broad.mit.edu	37	chr16	29848107	29848107	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggagtgtcccgccgcactgGggaggagtggctggtaacag	19	9	0	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:29848107G>T	ENST00000357402.5	+	7	875	c.737G>T	c.(736-738)gGg>gTg	p.G246V	MVP_ENST00000395353.1_Missense_Mutation_p.G246V|MVP_ENST00000452209.2_Missense_Mutation_p.W60C	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	246					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						CGCCGCACTGGGGAGGAGTGG	0.647													15	205					9.16793e-09	9.73335e-09	1	1	0	T	29848107	G	T	29848107	3	4	15	1	0	0	0	0	1	0	0	0	10044	1232	43	2	759	2	MVP	16	29848107	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08		29848107	60506646	147	1462											
RSPRY1	89970	broad.mit.edu	37	chr16	57243042	57243042	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagttattccactggaagaTccactgggaccagctgttat	10	9	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:57243042T>C	ENST00000537866.1	+	4	1332	c.459T>C	c.(457-459)gaT>gaC	p.D153D	RSPRY1_ENST00000394420.4_Silent_p.D153D			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	153						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						CACTGGAAGATCCACTGGGAC	0.338													60	506					0	0	1	0	0	C	57243042	T	C	57243042	2	2	15	1	0	0	0	0	0	0	0	1	13765	1432	50	3		3	RSPRY1	16	57243042	Silent	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	27394935	57243042	33111711	148	1463											
CES3	23491	broad.mit.edu	37	chr16	66998264	66998264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacactgcccccagcactGgagatgagcatgcacctggc	10	16	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:66998264G>A	ENST00000303334.4	+	5	636	c.565G>A	c.(565-567)Gga>Aga	p.G189R	CES3_ENST00000394037.1_Missense_Mutation_p.G189R	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	189						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)		CCCCAGCACTGGAGATGAGCA	0.587													93	63					0	0	1	0	0	A	66998264	G	A	66998264	3	1	15	1	0	0	0	0	1	0	0	0	3293	1349	47	2	583	2	CES3	16	66998264	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	9755222	66998264	23356489	149	1464											
DPEP3	64180	broad.mit.edu	37	chr16	68014188	68014188	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtctccgcgcgggttacGggctgccgcagcagcagcag	17	13	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:68014188G>A	ENST00000268793.4	-	1	544	c.171C>T	c.(169-171)ccC>ccT	p.P57P	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	32					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)		CGCGGGTTACGGGCTGCCgca	0.731													5	39					0	0	1	0	0	A	68014188	G	A	68014188	2	1	15	1	0	0	0	0	0	0	0	1	4742	1103	39	1		1	DPEP3	16	68014188	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	1015924	68014188	22340565	150	1465											
DPEP2	64174	broad.mit.edu	37	chr16	68024785	68024785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcacacaccccgggcagccGagtgggagaagatcacaggt	14	12	1	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:68024785G>A	ENST00000412757.2	-	8	1513	c.848C>T	c.(847-849)tCg>tTg	p.S283L	DPEP2_ENST00000393847.1_Missense_Mutation_p.S283L|DPEP2_ENST00000572888.1_Missense_Mutation_p.S283L			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	283					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)		CCGGGCAGCCGAGTGGGAGAA	0.572													48	500					0	0	1	0	0	A	68024785	G	A	68024785	3	1	15	1	0	0	0	0	1	0	0	0	4741	1059	37	1	632	1	DPEP2	16	68024785	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	10597	68024785	22329968	151	1466											
ITGAE	3682	broad.mit.edu	37	chr17	3664312	3664314	+	In_Frame_Del	DEL	TCC	TCC	-													tctgcctcttctcaccagctTcctcctcctcctcgtcttcc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:3664312_3664314delTCC	ENST00000263087.4	-	6	689_691	c.591_593delGGA	c.(589-594)gaa>ga	p.EE197del		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	197	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)		CTCACCAGCTtcctcctcctcct	0.586													7	289	---	---	---	---						-	3664314	TCC	-	3664312	7	5	15	1	0	1	0	1	0	0	0	0	7929	1783	62	0	3050	0	ITGAE	17	3664312	In_Frame_Del	DEL	TCC	TCGA-HV-A7OP-01A-11D-A33T-08		3664312	77530898	152	1467											
HS3ST3B1	9953	broad.mit.edu	37	chr17	14205233	14205233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctttttcagtgggtctgGgagcaagcagctgccgcagg	15	10	2	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:14205233G>A	ENST00000360954.2	+	1	834	c.398G>A	c.(397-399)gGg>gAg	p.G133E		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	133					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)		AGTGGGTCTGGGAGCAAGCAG	0.682													29	39					0	0	1	0	0	A	14205233	G	A	14205233	3	1	15	1	0	0	0	0	1	0	0	0	7407	1232	43	2	400	2	HS3ST3B1	17	14205233	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	10540921	14205233	66989977	153	1468											
STAC2	342667	broad.mit.edu	37	chr17	37371270	37371270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctcggtcagctcatcccGctcactctagggacagagag	10	14	4	1	rs145436426		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:37371270G>A	ENST00000333461.5	-	6	1075	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	236					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						AGCTCATCCCGCTCACTCTAG	0.627													6	760					0	0	1	0	0	A	37371270	G	A	37371270	3	1	15	1	0	0	0	0	1	0	0	0	15296	1086	38	1	553	1	STAC2	17	37371270	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	23166037	37371270	43823940	154	1469											
MRC2	9902	broad.mit.edu	37	chr17	60754766	60754766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgacgccggagctgccGgggccagatcccacgcccag	14	17	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:60754766G>A	ENST00000303375.5	+	12	2373	c.1971G>A	c.(1969-1971)ccG>ccA	p.P657P		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	657					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						CGGAGCTGCCGGGGCCAGATC	0.667													29	48					0	0	1	0	0	A	60754766	G	A	60754766	2	1	15	1	0	0	0	0	0	0	0	1	9807	1103	39	1		1	MRC2	17	60754766	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	23383496	60754766	20440444	155	1470											
SLC16A5	9121	broad.mit.edu	37	chr17	73096669	73096669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggcctttgctagccaccGcaagtacctgttcagcctgg	11	15	1	0	rs142646577		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:73096669G>A	ENST00000450736.2	+	4	1326	c.911G>A	c.(910-912)cGc>cAc	p.R304H	SLC16A5_ENST00000329783.4_Missense_Mutation_p.R304H|SLC16A5_ENST00000580123.1_Missense_Mutation_p.R304H|SLC16A5_ENST00000538213.2_Missense_Mutation_p.R344H			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	304					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)	GCTAGCCACCGCAAGTACCTG	0.622													6	927					0	0	1	0	0	A	73096669	G	A	73096669	3	1	15	1	0	0	0	0	1	0	0	0	14466	1087	38	1	921	1	SLC16A5	17	73096669	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	12341903	73096669	8098541	156	1471											
OSBPL1A	114876	broad.mit.edu	37	chr18	21745096	21745097	+	Frame_Shift_Ins	INS	-	-	T													ctttgtttttcctcaagtcgINSttttttttcttcactagctt							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:21745096_21745097insT	ENST00000319481.3	-	27	2888_2889	c.2682_2683insA	c.(2680-2685)aagactfs	p.T895fs	OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	895					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)					TCCTCAAGTCGTTTTTTTTCTT	0.46													9	1061	---	---	---	---						T	21745097	-	T	21745096	7	5	15	1	0	1	1	0	0	0	0	0	11324	1153	40	0	177	0	OSBPL1A	18	21745096	Frame_Shift_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08		21745096	56332152	157	1472											
ASXL3	80816	broad.mit.edu	37	chr18	31241680	31241680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcttccttccagcagcaCaccaaaaaggctcttaaaca	6	13	2	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:31241680C>T	ENST00000269197.5	+	5	456	c.456C>T	c.(454-456)caC>caT	p.H152H		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	152					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						TCCAGCAGCACACCAAAAAGG	0.408													8	125					0	0	1	0	0	T	31241680	C	T	31241680	2	4	15	1	0	0	0	0	0	0	0	1	1067	477	17	2		2	ASXL3	18	31241680	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	9496584	31241680	46835568	158	1473											
NOL4	8715	broad.mit.edu	37	chr18	31709908	31709908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccccgtttccacatgcatcGaataaataatgtcaaagaaa	6	10	1	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:31709908G>A	ENST00000261592.5	-	2	638	c.341C>T	c.(340-342)tCg>tTg	p.S114L	NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000538587.1_Missense_Mutation_p.S40L|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.S114L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	114						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						CACATGCATCGAATAAATAAT	0.388													95	280					0	0	1	0	0	A	31709908	G	A	31709908	3	1	15	1	0	0	0	0	1	0	0	0	10571	1059	37	1	1615	1	NOL4	18	31709908	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	468228	31709908	46367340	159	1474											
ZNF24	7572	broad.mit.edu	37	chr18	32920402	32920402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcaaagttctcggagctgGctcacagcctcacggggccc	13	15	3	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:32920402G>A	ENST00000589881.1	-	1	216	c.213C>T	c.(211-213)agC>agT	p.S71S	ZNF24_ENST00000261332.6_Silent_p.S71S|ZNF24_ENST00000399061.3_Silent_p.S71S			P17028	ZNF24_HUMAN	zinc finger protein 24	71	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						CTCGGAGCTGGCTCACAGCCT	0.547													6	824					0	0	1	0	0	A	32920402	G	A	32920402	2	1	15	1	0	0	0	0	0	0	0	1	17850	1194	42	2		2	ZNF24	18	32920402	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	1210494	32920402	45156846	160	1475											
LRG1	116844	broad.mit.edu	37	chr19	4538264	4538264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctggccagcttgttgccGttcaggaagaggtagcgcag	14	11	1	1	rs142530537	by1000genomes	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:4538264G>A	ENST00000306390.6	-	2	1192	c.732C>T	c.(730-732)aaC>aaT	p.N244N	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	244						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)		GCTTGTTGCCGTTCAGGAAGA	0.592													7	1206					0	0	1	0	0	A	4538264	G	A	4538264	2	1	15	1	0	0	0	0	0	0	0	1	8987	1136	40	1		1	LRG1	19	4538264	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08		4538264	54590719	161	1476											
UHRF1	29128	broad.mit.edu	37	chr19	4929125	4929125	+	RNA	DEL	C	C	-													ctttactctgatgcagattgCcccccccccacaagggctgg					rs66904189		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:4929125delC	ENST00000592666.1	+	0	729							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			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)		ATGCAGATTGCCCCCCCCCCA	0.607													10	104	---	---	---	---						-	4929125	C	-	4929125	6	5	15	0	1	1	0	1	0	0	0	0	17027	754	26	0		0	UHRF1	19	4929125	RNA	DEL	C	TCGA-HV-A7OP-01A-11D-A33T-08	390861	4929125	54199858	162	1477											
KLF1	10661	broad.mit.edu	37	chr19	12997930	12997930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagtgtgctgatggaggGcaaggcggtctcggctgtgg	20	7	2	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:12997930G>A	ENST00000264834.4	-	1	65	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S		NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	9	Pro-rich.				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGATGGAGGGCAAGGCGGTC	0.657													5	287					0	0	1	0	0	A	12997930	G	A	12997930	3	1	15	1	0	0	0	0	1	0	0	0	8380	1203	42	2	1075	2	KLF1	19	12997930	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	8068805	12997930	46131053	163	1478											
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-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	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													9	1539					0	0	1	0	0	A	40395919	G	A	40395919	3	1	15	1	0	0	0	0	1	0	0	0	5811	1203	42	2	8827	2	FCGBP	19	40395919	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	27397989	40395919	18733064	164	1479											
ZNF780A	284323	broad.mit.edu	37	chr19	40580666	40580666	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcgaaaggctttcccacaTtccttacattcaaagggttt	7	10	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:40580666T>C	ENST00000450241.2	-	6	1892	c.1581A>G	c.(1579-1581)gaA>gaG	p.E527E	ZNF780A_ENST00000594395.1_Silent_p.E562E|ZNF780A_ENST00000340963.5_Silent_p.E561E|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Silent_p.E562E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Silent_p.E561E			O75290	Z780A_HUMAN	zinc finger protein 780A	561					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)					CTTTCCCACATTCCTTACATT	0.388													5	554					0	0	1	0	0	C	40580666	T	C	40580666	2	2	15	1	0	0	0	0	0	0	0	1	18201	1490	52	3		3	ZNF780A	19	40580666	Silent	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	184747	40580666	18548317	165	1480											
CYP2F1	1572	broad.mit.edu	37	chr19	41622456	41622456	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgtgaaggaggccctggtgGaccagggagaggagtttagt	18	6	0	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:41622456G>T	ENST00000331105.2	+	3	340	c.268G>T	c.(268-270)Gac>Tac	p.D90Y		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	90					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						GGCCCTGGTGGACCAGGGAGA	0.597													28	349					6.32553e-13	6.77535e-13	1	1	0	T	41622456	G	T	41622456	3	4	15	1	0	0	0	0	1	0	0	0	4194	1174	41	2	274	2	CYP2F1	19	41622456	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	1041790	41622456	17506527	166	1481											
NLRP2	55655	broad.mit.edu	37	chr19	55494011	55494011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagaagaagccggtgccCgtcctcctggggagtttgct	15	10	0	3	rs139643111		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:55494011C>T	ENST00000543010.1	+	6	1088	c.945C>T	c.(943-945)ccC>ccT	p.P315P	NLRP2_ENST00000339757.7_Silent_p.P293P|NLRP2_ENST00000448584.2_Silent_p.P315P|NLRP2_ENST00000538819.1_Silent_p.P291P|NLRP2_ENST00000427260.2_Silent_p.P292P|NLRP2_ENST00000263437.6_Silent_p.P312P|NLRP2_ENST00000537859.1_Silent_p.P293P|NLRP2_ENST00000391721.4_Silent_p.P291P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	315	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)		AGCCGGTGCCCGTCCTCCTGG	0.637													18	280					0	0	1	0	0	T	55494011	C	T	55494011	2	4	15	1	0	0	0	0	0	0	0	1	10524	639	23	1		1	NLRP2	19	55494011	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	13871555	55494011	3634972	167	1482											
RSPO4	343637	broad.mit.edu	37	chr20	944604	944604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagggcctctggatgggaCatttccttgactcagaaagc	13	10	2	2			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:944604C>T	ENST00000217260.4	-	4	665	c.569G>A	c.(568-570)tGt>tAt	p.C190Y	RSPO4_ENST00000400634.2_Intron	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	190	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CTGGATGGGACATTTCCTTGA	0.672													39	280					0	0	1	0	0	T	944604	C	T	944604	3	4	15	1	0	0	0	0	1	0	0	0	13764	478	17	2	143	2	RSPO4	20	944604	Missense_Mutation	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08		944604	62080916	168	1483											
THBD	7056	broad.mit.edu	37	chr20	23029062	23029062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacgggctccacacactcGccgtccaccaggtcgtagtt	9	17	0	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:23029062G>A	ENST00000377103.2	-	1	1316	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	360	EGF-like 3; calcium-binding (Potential).				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)	CCACACACTCGCCGTCCACCA	0.617													54	256					0	0	1	0	0	A	23029062	G	A	23029062	2	1	15	1	0	0	0	0	0	0	0	1	15912	1074	38	1		1	THBD	20	23029062	Silent	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	22084458	23029062	39996458	169	1484											
PXMP4	11264	broad.mit.edu	37	chr20	32295669	32295669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccagcccccacaccaccGcagtgagcagcgggaacggg	13	17	0	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:32295669G>A	ENST00000409299.3	-	4	574	c.482C>T	c.(481-483)gCg>gTg	p.A161V	PXMP4_ENST00000217398.3_3'UTR|PXMP4_ENST00000344022.3_3'UTR	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	161						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity			NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CCACACCACCGCAGTGAGCAG	0.602													7	507					0	0	1	0	0	A	32295669	G	A	32295669	3	1	15	1	0	0	0	0	1	0	0	0	12903	1087	38	1	160	1	PXMP4	20	32295669	Missense_Mutation	SNP	G	TCGA-HV-A7OP-01A-11D-A33T-08	9266607	32295669	30729851	170	1485											
CHD6	0	broad.mit.edu	37	chr20	40049687	40049687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcctcctcatcactgTggttctgactcaaaatcaat	4	13	6	1			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:40049687T>C	ENST00000373233.3	-	31	5765	c.5588A>G	c.(5587-5589)cAc>cGc	p.H1863R		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1863					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)				ctcatcACTGTGGTTCTGACT	0.433													129	156					0	0	1	0	0	C	40049687	T	C	40049687	3	2	15	1	0	0	0	0	1	0	0	0	3351	1696	59	3	2587	3	CHD6	20	40049687	Missense_Mutation	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08	7754018	40049687	22975833	171	1486											
APCDD1L	164284	broad.mit.edu	37	chr20	57036519	57036520	+	Frame_Shift_Ins	INS	-	-	G													ccaccagccgcccaggtgcaINSggggcagggccagagggggc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:57036519_57036520insG	ENST00000371149.3	-	4	1062_1063	c.832_833insC	c.(832-834)gcafs	p.A278fs	APCDD1L_ENST00000439429.1_Frame_Shift_Ins_p.A289fs|APCDD1L_ENST00000491015.1_5'UTR	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	278						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)			GCCCAGGTGCAGGGGCAGGGCC	0.708													16	19	---	---	---	---						G	57036520	-	G	57036519	7	5	15	1	0	1	1	0	0	0	0	0	762	188	7	0	676	0	APCDD1L	20	57036519	Frame_Shift_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	16986832	57036519	5989001	172	1487											
DIDO1	11083	broad.mit.edu	37	chr20	61511303	61511303	+	Frame_Shift_Del	DEL	T	T	-													atcgcgaaggggtctgctcaTttttttcagaaaagggtgcg							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:61511303delT	ENST00000266070.4	-	16	6330	c.6005delA	c.(6004-6006)atfs	p.N2002fs	DIDO1_ENST00000395343.1_Frame_Shift_Del_p.N2002fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2002	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)					GGTCTGCTCATTTTTTTCAGA	0.622													9	975	---	---	---	---						-	61511303	T	-	61511303	7	5	15	1	0	1	0	1	0	0	0	0	4550	1493	52	0	721	0	DIDO1	20	61511303	Frame_Shift_Del	DEL	T	TCGA-HV-A7OP-01A-11D-A33T-08	4474784	61511303	1514217	173	1488											
L3MBTL2	83746	broad.mit.edu	37	chr22	41621925	41621925	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtcagaagaatgacaTtgagctcacaccgccaaaag	8	11	3	4			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:41621925T>C	ENST00000216237.5	+	12	1642	c.1484T>C	c.(1483-1485)aTt>aCt	p.I495T		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	495					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						AAGAATGACATTGAGCTCACA	0.602													69	119					0	0	1	0	0	C	41621925	T	C	41621925	3	2	15	1	0	0	0	0	1	0	0	0	8631	1493	52	3	1530	3	L3MBTL2	22	41621925	Missense_Mutation	SNP	T	TCGA-HV-A7OP-01A-11D-A33T-08		41621925	9682641	174	1489											
PHF8	23133	broad.mit.edu	37	chrX	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-													tgttcatccagactggcgttCtcctcctcctcctcgctctc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chrX:54011405_54011407delCTC	ENST00000338154.6	-	18	2887_2889	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831	Ser-rich.				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						GACTGGCGTTCTCCTCCTCCTCC	0.591													9	344	---	---	---	---						-	54011407	CTC	-	54011405	7	5	15	1	0	1	0	1	0	0	0	0	11888	912	32	0	835	0	PHF8	23	54011405	In_Frame_Del	DEL	CTC	TCGA-HV-A7OP-01A-11D-A33T-08		54011405	101259155	175	1490											
BHLHB9	80823	broad.mit.edu	37	chrX	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-													gcaaacctaggtcaggggctGaggaggaggaggaagagaat							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)del	p.E171del	BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.					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						GTCAGGGGCTGAGGAGGAGGAGG	0.488													7	408	---	---	---	---						-	102004421	GAG	-	102004419	7	5	15	1	0	1	0	1	0	0	0	0	1419	1291	45	0	498	0	BHLHB9	23	102004419	In_Frame_Del	DEL	GAG	TCGA-HV-A7OP-01A-11D-A33T-08	47993014	102004419	53266141	176	1491											
IRS4	8471	broad.mit.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C													tcccacttcctgagcctttgINSccccccccagagttcttgcc							TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)gaafs	p.E591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						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						CTGAGCCTTTGCCCCCCCCAGA	0.545													7	737	---	---	---	---						C	107977803	-	C	107977802	7	5	15	1	0	1	1	0	0	0	0	0	7886	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-HV-A7OP-01A-11D-A33T-08	5973383	107977802	47292758	177	1492											
F9	2158	broad.mit.edu	37	chrX	138643810	138643810	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcccttctggaactggaCgaacccttagtgctaaacag	9	11	1	0			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chrX:138643810C>T	ENST00000218099.2	+	8	973	c.966C>T	c.(964-966)gaC>gaT	p.D322D	F9_ENST00000394090.2_Silent_p.D284D	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	322	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TGGAACTGGACGAACCCTTAG	0.408													185	26					0	0	1	0	0	T	138643810	C	T	138643810	2	4	15	1	0	0	0	0	0	0	0	1	5382	535	19	1		1	F9	23	138643810	Silent	SNP	C	TCGA-HV-A7OP-01A-11D-A33T-08	30666008	138643810	16626750	178	1493											
CELA3A	10136	broad.mit.edu	37	chr1	22331987	22331987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttctaccacacgtgtggCggtagcctcatcgcccccga	10	16	2	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:22331987C>T	ENST00000290122.3	+	3	196	c.177C>T	c.(175-177)ggC>ggT	p.G59G	CELA3A_ENST00000374663.1_Silent_p.G59G	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						ACACGTGTGGCGGTAGCCTCA	0.622											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	504					0	0	1	0	0	T	22331987	C	T	22331987	2	4	16	1	0	0	0	0	0	0	0	1	3235	755	27	1		1	CELA3A	1	22331987	Silent	SNP	C	TCGA-HZ-7918-01A-11D-2154-08		22331987	226918634	1	1494											
DMAP1	55929	broad.mit.edu	37	chr1	44680376	44680376	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccctaaacctccctgccaggGatgcacccccactgctaccc	6	21	0	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:44680376G>C	ENST00000372289.2	+	3	462	c.197_splice	c.e3-1	p.D67_splice	DMAP1_ENST00000315913.5_Splice_Site_p.D67_splice|DMAP1_ENST00000361745.6_Splice_Site_p.D67_splice	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	67					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)					CCCTGCCAGGGATGCACCCCC	0.537													58	390					0	0	1	0	0	C	44680376	G	C	44680376	5	2	16	1	0	0	0	0	0	0	1	0	4604	1188	41	5	209	5	DMAP1	1	44680376	Splice_Site	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	22348389	44680376	204570245	2	1495											
ZSWIM5	57643	broad.mit.edu	37	chr1	45486422	45486422	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaatgaatgtgcttctGtattgcttccagaattgttc	10	6	1	3			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:45486422G>T	ENST00000359600.5	-	12	2693	c.2488C>A	c.(2488-2490)Cag>Aag	p.Q830K		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	830							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)					ATGTGCTTCTGTATTGCTTCC	0.448													160	990					4.16832e-71	4.66577e-71	1	1	0	T	45486422	G	T	45486422	3	4	16	1	0	0	0	0	1	0	0	0	18284	1386	48	2	1081	2	ZSWIM5	1	45486422	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	806046	45486422	203764199	3	1496											
CDCP2	200008	broad.mit.edu	37	chr1	54605517	54605517	+	Frame_Shift_Del	DEL	T	T	-													ttgtggcttgaggtcacgggTggtggcaggtggtgtccaca							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:54605517delT	ENST00000371330.1	-	4	1873	c.1026delA	c.(1024-1026)ccfs	p.P343fs	CDCP2_ENST00000530059.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	343	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						AGGTCACGGGTGGTGGCAGGT	0.632													43	270	---	---	---	---						-	54605517	T	-	54605517	7	5	16	1	0	1	0	1	0	0	0	0	3116	1683	59	0	327	0	CDCP2	1	54605517	Frame_Shift_Del	DEL	T	TCGA-HZ-7918-01A-11D-2154-08	9119095	54605517	194645104	4	1497											
KCNC4	3749	broad.mit.edu	37	chr1	110768648	110768664	+	Frame_Shift_Del	DEL	CTGGCCTCACCCAACCC	CTGGCCTCACCCAACCC	-													gctgtctgatgaggagggagCtggcctcacccaacccctgg							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:110768648_110768664delCTGGCCTCACCCAACCC	ENST00000369787.3	+	3	1694_1710	c.1667_1683delCTGGCCTCACCCAACCC	c.(1666-1683)gfs	p.AGLTQP556fs	KCNC4_ENST00000438661.2_Frame_Shift_Del_p.AGLTQP556fs|KCNC4_ENST00000413138.3_Frame_Shift_Del_p.AGLTQP556fs|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	556					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)		GAGGAGGGAGCTGGCCTCACCCAACCCCTGGCCTCCT	0.641													51	300	---	---	---	---						-	110768664	CTGGCCTCACCCAACCC	-	110768648	7	5	16	1	0	1	0	1	0	0	0	0	8061	797	28	0	1811	0	KCNC4	1	110768648	Frame_Shift_Del	DEL	CTGGCCTCACCCAACCC	TCGA-HZ-7918-01A-11D-2154-08	56163131	110768648	138481973	5	1498											
C1orf162	128346	broad.mit.edu	37	chr1	112020662	112020662	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcacaactttcaaactctcaGaagaaaagagcaatcacttg	6	10	3	3			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:112020662G>A	ENST00000343534.5	+	6	635	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	C1orf162_ENST00000464591.1_3'UTR|C1orf162_ENST00000369718.3_Missense_Mutation_p.E104K	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	129						integral to membrane				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)		CAAACTCTCAGAAGAAAAGAG	0.433													67	339					0	0	1	0	0	A	112020662	G	A	112020662	3	1	16	1	0	0	0	0	1	0	0	0	2023	943	33	2	403	2	C1orf162	1	112020662	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	1252014	112020662	137229959	6	1499											
CD58	965	broad.mit.edu	37	chr1	117087113	117087113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttccagttctgcaacttTatccttttgttttttccata	3	9	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:117087113T>C	ENST00000457047.2	-	2	237	c.184A>G	c.(184-186)Aaa>Gaa	p.K62E	CD58_ENST00000369487.3_Missense_Mutation_p.K62E|CD58_ENST00000369489.5_Missense_Mutation_p.K62E	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN	CD58 molecule	62					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)		TCTGCAACTTTATCCTTTTGT	0.348													38	168					0	0	1	0	0	C	117087113	T	C	117087113	3	2	16	1	0	0	0	0	1	0	0	0	3047	1763	61	3	592	3	CD58	1	117087113	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08	5066451	117087113	132163508	7	1500											
OTUD7B	56957	broad.mit.edu	37	chr1	149920861	149920869	+	Splice_Site	DEL	CCTGGCTTA	CCTGGCTTA	-													aaatagatgaaaagactaggCctggcttacctggccaatcg							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:149920861_149920869delCCTGGCTTA	ENST00000369135.3	-	10	1533		c.e10+1			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)			AAAGACTAGGCCTGGCTTACCTGGCCAAT	0.498													26	353	---	---	---	---						-	149920869	CCTGGCTTA	-	149920861	8	5	16	1	0	1	0	1	0	0	1	0	11366	754	26	0		0	OTUD7B	1	149920861	Splice_Site	DEL	CCTGGCTTA	TCGA-HZ-7918-01A-11D-2154-08	32833748	149920861	99329760	8	1501											
UBE2Q1	55585	broad.mit.edu	37	chr1	154525225	154525225	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aactcaccgcctttgaaactCtgtgatcggtatatatccct	6	12	2	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:154525225C>G	ENST00000292211.4	-	6	880	c.801G>C	c.(799-801)caG>caC	p.Q267H	UBE2Q1_ENST00000497453.1_5'UTR	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	267							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTTTGAAACTCTGTGATCGGT	0.572													20	465					0	0	1	0	0	G	154525225	C	G	154525225	3	3	16	1	0	0	0	0	1	0	0	0	16930	912	32	5	499	5	UBE2Q1	1	154525225	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	4604364	154525225	94725396	9	1502											
CHRNB2	1141	broad.mit.edu	37	chr1	154544140	154544140	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggcgctcacggtcttcctgCtgctcatctccaagatcgtg	10	14	4	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:154544140C>G	ENST00000368476.3	+	5	1105	c.841C>G	c.(841-843)Ctg>Gtg	p.L281V		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	281					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)	GGTCTTCCTGCTGCTCATCTC	0.577													71	623					0	0	1	0	0	G	154544140	C	G	154544140	3	3	16	1	0	0	0	0	1	0	0	0	3413	796	28	5	859	5	CHRNB2	1	154544140	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	18915	154544140	94706481	10	1503											
OR10K2	391107	broad.mit.edu	37	chr1	158390123	158390123	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggacaggagcaatgtcacaGaagaagtgatgtagttgatt	13	4	1	4			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:158390123G>A	ENST00000314902.2	-	1	533	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	178					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)					CAATGTCACAGAAGAAGTGAT	0.463													91	470					0	0	1	0	0	A	158390123	G	A	158390123	2	1	16	1	0	0	0	0	0	0	0	1	10962	933	33	2		2	OR10K2	1	158390123	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	3845983	158390123	90860498	11	1504											
OR6Y1	391112	broad.mit.edu	37	chr1	158517108	158517108	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagtttgggacgggcatagGtgaaaagtgtcatggaatag	16	3	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:158517108G>T	ENST00000302617.3	-	1	787	c.788C>A	c.(787-789)aCc>aAc	p.T263N		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	263					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)					ACGGGCATAGGTGAAAAGTGT	0.483													98	608					9.86815e-39	1.09557e-38	1	1	0	T	158517108	G	T	158517108	3	4	16	1	0	0	0	0	1	0	0	0	11260	1261	44	2	191	2	OR6Y1	1	158517108	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	126985	158517108	90733513	12	1505											
PPOX	5498	broad.mit.edu	37	chr1	161139773	161139773	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcactgcagtgtctgtagctGtggtgaatctgcagtaccaa	11	9	3	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:161139773G>T	ENST00000367999.4	+	9	1212	c.946G>T	c.(946-948)Gtg>Ttg	p.V316L	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.V316L|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_3'UTR	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	316					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)			GTCTGTAGCTGTGGTGAATCT	0.577													19	187					8.28177e-16	8.73117e-16	1	1	0	T	161139773	G	T	161139773	3	4	16	1	0	0	0	0	1	0	0	0	12397	1377	48	2	976	2	PPOX	1	161139773	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	2622665	161139773	88110848	13	1506											
HMCN1	83872	broad.mit.edu	37	chr1	185966578	185966578	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tagaaccacccacagtggaaGatctagaacctccatataac	6	12	1	3			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:185966578G>C	ENST00000271588.4	+	25	4025	c.3796G>C	c.(3796-3798)Gat>Cat	p.D1266H	HMCN1_ENST00000367492.2_Missense_Mutation_p.D1266H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1266	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						CACAGTGGAAGATCTAGAACC	0.383													50	282					0	0	1	0	0	C	185966578	G	C	185966578	3	2	16	1	0	0	0	0	1	0	0	0	7261	942	33	5	3894	5	HMCN1	1	185966578	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	24826805	185966578	63284043	14	1507											
CRB1	23418	broad.mit.edu	37	chr1	197404147	197404147	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccagacctccaggtggCaaatggaagtggacaacgaa	12	10	0	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:197404147C>G	ENST00000367397.1	+	5	2155	c.1297C>G	c.(1297-1299)Caa>Gaa	p.Q433E	CRB1_ENST00000544212.1_Missense_Mutation_p.Q533E|CRB1_ENST00000367400.3_Missense_Mutation_p.Q1052E|CRB1_ENST00000367399.2_Missense_Mutation_p.Q940E|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.Q1028E			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1052	EGF-like 10; calcium-binding (Potential).		Y -> C (in RP12).		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						CTCCAGGTGGCAAATGGAAGT	0.453													22	492					0	0	1	0	0	G	197404147	C	G	197404147	3	3	16	1	0	0	0	0	1	0	0	0	3871	711	25	5	3188	5	CRB1	1	197404147	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	11437569	197404147	51846474	15	1508											
DYRK3	8444	broad.mit.edu	37	chr1	206822032	206822032	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgatgactacttgtttataGagttcttgaaaaggtgtctt	10	4	2	4			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:206822032G>A	ENST00000367106.1	+	4	1902	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	DYRK3_ENST00000367109.2_Missense_Mutation_p.E497K|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Missense_Mutation_p.E477K			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	497	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)			CTTGTTTATAGAGTTCTTGAA	0.547													19	575					0	0	1	0	0	A	206822032	G	A	206822032	3	1	16	1	0	0	0	0	1	0	0	0	4883	943	33	2	1520	2	DYRK3	1	206822032	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	9417885	206822032	42428589	16	1509											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220326745	220326745	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcactgacaactttcaataAgaacttgaaaatggagaaag	8	6	1	4			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:220326745A>C	ENST00000358951.2	-	33	3765	c.3649T>G	c.(3649-3651)Tta>Gta	p.L1217V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1217					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.L1217V(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)		ACTTTCAATAAGAACTTGAAA	0.408													80	370					0	0	1	0	0	C	220326745	A	C	220326745	3	2	16	1	0	0	0	0	1	0	0	0	12988	69	3	3	544	3	RAB3GAP2	1	220326745	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	13504713	220326745	28923876	17	1510											
PLB1	151056	broad.mit.edu	37	chr2	28849295	28849295	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggatcttctgtcccctcagGacatcaacctggagaaagac	9	12	4	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:28849295G>T	ENST00000422425.2	+	50	3591	c.3546_splice	c.e50-1	p.D1183_splice	PLB1_ENST00000541605.1_Splice_Site_p.D159_splice|PLB1_ENST00000327757.5_Splice_Site_p.D1194_splice	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1194	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)					GTCCCCTCAGGACATCAACCT	0.547													33	246					3.11337e-16	3.29509e-16	1	1	0	T	28849295	G	T	28849295	5	4	16	1	0	0	0	0	0	0	1	0	12072	1188	41	2	3815	2	PLB1	2	28849295	Splice_Site	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		28849295	214350078	18	1511											
EML4	27436	broad.mit.edu	37	chr2	42511790	42511790	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttagccttgctatacatcctGacaaaattaggattgcaact	6	9	0	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:42511790G>T	ENST00000318522.5	+	9	1220	c.958G>T	c.(958-960)Gac>Tac	p.D320Y	EML4_ENST00000402711.2_Missense_Mutation_p.D262Y|EML4_ENST00000401738.3_Missense_Mutation_p.D331Y	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	320					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						TATACATCCTGACAAAATTAG	0.378			T	ALK	NSCLC								43	274					1.23103e-26	1.34474e-26	1	1	0	T	42511790	G	T	42511790	3	4	16	1	0	0	0	0	1	0	0	0	5127	1290	45	2	992	2	EML4	2	42511790	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	13662495	42511790	200687583	19	1512											
BCL11A	53335	broad.mit.edu	37	chr2	60688255	60688255	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccattaacagtgccatcgtCtatgcggtccgactcgccgg	11	14	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:60688255C>A	ENST00000335712.6	-	4	2019	c.1792G>T	c.(1792-1794)Gac>Tac	p.D598Y	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.D564Y|BCL11A_ENST00000358510.4_Missense_Mutation_p.D564Y|BCL11A_ENST00000356842.4_Missense_Mutation_p.D598Y|BCL11A_ENST00000537768.1_Missense_Mutation_p.D267Y|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	598					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)			GTGCCATCGTCTATGCGGTCC	0.697			T	IGH@	B-CLL								34	188					2.09667e-21	2.24525e-21	1	1	0	A	60688255	C	A	60688255	3	1	16	1	0	0	0	0	1	0	0	0	1361	913	32	2	825	2	BCL11A	2	60688255	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	18176465	60688255	182511118	20	1513											
ZNF514	84874	broad.mit.edu	37	chr2	95815575	95815575	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatcgctgatggcgcctaaGttctgactggaagtgaaagg	13	8	1	3			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:95815575G>T	ENST00000295208.2	-	5	1117	c.655C>A	c.(655-657)Ctt>Att	p.L219I	ZNF514_ENST00000411425.1_Missense_Mutation_p.L219I	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TGGCGCCTAAGTTCTGACTGG	0.443													26	783					4.06085e-26	4.4182e-26	1	1	0	T	95815575	G	T	95815575	3	4	16	1	0	0	0	0	1	0	0	0	18016	1029	36	2	551	2	ZNF514	2	95815575	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	35127320	95815575	147383798	21	1514											
EDAR	10913	broad.mit.edu	37	chr2	109524464	109524464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctcattctcggatgagGcatcgttctcgctgcaaaaa	10	11	3	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:109524464G>A	ENST00000409271.1	-	10	1354	c.911C>T	c.(910-912)gCc>gTc	p.A304V	EDAR_ENST00000376651.1_Missense_Mutation_p.A304V|EDAR_ENST00000258443.2_Missense_Mutation_p.A272V			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	272					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						CTCGGATGAGGCATCGTTCTC	0.607													25	173					0	0	1	0	0	A	109524464	G	A	109524464	3	1	16	1	0	0	0	0	1	0	0	0	4931	1203	42	2	543	2	EDAR	2	109524464	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	13708889	109524464	133674909	22	1515											
ZRANB3	84083	broad.mit.edu	37	chr2	135988368	135988368	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctcttgcagctgtttttgTagggtctgatgacactacag	10	8	2	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:135988368T>C	ENST00000401392.1	-	13	1881	c.1669A>G	c.(1669-1671)Aca>Gca	p.T557A	ZRANB3_ENST00000264159.6_Missense_Mutation_p.T557A|ZRANB3_ENST00000536680.1_Missense_Mutation_p.T557A|ZRANB3_ENST00000412849.1_5'UTR			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	557						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)		GCTGTTTTTGTAGGGTCTGAT	0.413													33	415					0	0	1	0	0	C	135988368	T	C	135988368	3	2	16	1	0	0	0	0	1	0	0	0	18266	1638	57	3	1606	3	ZRANB3	2	135988368	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08	26463904	135988368	107211005	23	1516											
ARHGAP15	55843	broad.mit.edu	37	chr2	143959733	143959733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaaggaatcattcacagCatatcttgaaagatgtcatt	7	7	4	3			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:143959733C>T	ENST00000409869.1	+	4	373	c.196C>T	c.(196-198)Cat>Tat	p.H66Y	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.H66Y			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	66					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)		TCATTCACAGCATATCTTGAA	0.303													66	306					0	0	1	0	0	T	143959733	C	T	143959733	3	4	16	1	0	0	0	0	1	0	0	0	863	710	25	2	202	2	ARHGAP15	2	143959733	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	7971365	143959733	99239640	24	1517											
MYO3B	140469	broad.mit.edu	37	chr2	171323216	171323216	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atcctttttgaagaatttgtGaaaaggtcagaccgtcatct	8	7	3	4			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:171323216G>C	ENST00000334231.6	+	25	3036	c.3036G>C	c.(3034-3036)gtG>gtC	p.V1012V	MYO3B_ENST00000408978.4_Silent_p.V1003V|MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Silent_p.V1003V			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1003	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						AAGAATTTGTGAAAAGGTCAG	0.532													59	385					0	0	1	0	0	C	171323216	G	C	171323216	2	2	16	1	0	0	0	0	0	0	0	1	10125	1277	45	5		5	MYO3B	2	171323216	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	27363483	171323216	71876157	25	1518											
HIBCH	26275	broad.mit.edu	37	chr2	191161629	191161629	+	Frame_Shift_Del	DEL	T	T	-													gttatgactcccgtgcaaccTtttttttccaatagcacctc							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:191161629delT	ENST00000392332.3	-	3	268	c.129delA	c.(127-129)aafs	p.K43fs	HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs			Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	43					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCGTGCAACCTTTTTTTTCCA	0.353													7	339	---	---	---	---						-	191161629	T	-	191161629	7	5	16	1	0	1	0	1	0	0	0	0	7141	1606	56	0	1079	0	HIBCH	2	191161629	Frame_Shift_Del	DEL	T	TCGA-HZ-7918-01A-11D-2154-08	19838413	191161629	52037744	26	1519											
NEK10	152110	broad.mit.edu	37	chr3	27297832	27297832	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaggtgagtttactgtttTcttgtttttgctttgccagg	11	6	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:27297832T>C	ENST00000429845.2	-	24	2407	c.2045A>G	c.(2044-2046)gAa>gGa	p.E682G	NEK10_ENST00000357467.2_Missense_Mutation_p.E79G|NEK10_ENST00000341435.5_Missense_Mutation_p.E682G			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	682	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						TTTACTGTTTTCTTGTTTTTG	0.358													12	117					0	0	1	0	0	C	27297832	T	C	27297832	3	2	16	1	0	0	0	0	1	0	0	0	10369	1783	62	3	101	3	NEK10	3	27297832	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08		27297832	170724598	27	1520											
EOMES	8320	broad.mit.edu	37	chr3	27759190	27759190	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	taaagtgttgacaaagggctCcgggaagaaggattgaacgc	14	6	0	3			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:27759190C>A	ENST00000295743.4	-	6	1635	c.1432G>T	c.(1432-1434)Gag>Tag	p.E478*	EOMES_ENST00000537516.1_Nonsense_Mutation_p.E202*|EOMES_ENST00000449599.1_Nonsense_Mutation_p.E497*			O95936	EOMES_HUMAN	eomesodermin	478					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ACAAAGGGCTCCGGGAAGAAG	0.527													40	435					1.96642e-18	2.09751e-18	1	1	0	A	27759190	C	A	27759190	4	1	16	1	0	0	0	0	0	1	0	0	5175	864	30	2	632	2	EOMES	3	27759190	Nonsense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	461358	27759190	170263240	28	1521											
LARS2	23395	broad.mit.edu	37	chr3	45533136	45533136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacggcagcggtactgggGcacaccaatccccattgtcc	10	15	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:45533136G>A	ENST00000415258.1	+	12	1508	c.1367G>A	c.(1366-1368)gGc>gAc	p.G456D	LARS2_ENST00000414984.1_Missense_Mutation_p.G413D|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Missense_Mutation_p.G456D			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	456					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)	CGGTACTGGGGCACACCAATC	0.582													65	298					0	0	1	0	0	A	45533136	G	A	45533136	3	1	16	1	0	0	0	0	1	0	0	0	8674	1203	42	2	1409	2	LARS2	3	45533136	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	17773946	45533136	152489294	29	1522											
C3orf37	0	broad.mit.edu	37	chr3	129020839	129020839	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggcagtttctaaatggcttGactttggtgaagtctcaact	10	7	2	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:129020839G>C	ENST00000383463.4	+	6	771	c.682G>C	c.(682-684)Gac>Cac	p.D228H	C3orf37_ENST00000389735.3_Missense_Mutation_p.D228H|C3orf37_ENST00000502878.2_Missense_Mutation_p.D228H|C3orf37_ENST00000417226.2_Missense_Mutation_p.D186H	NM_020187.2	NP_064572.2	Q96FZ2	CC037_HUMAN		228										breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						TAAATGGCTTGACTTTGGTGA	0.463													86	455					0	0	1	0	0	C	129020839	G	C	129020839	3	2	16	1	0	0	0	0	1	0	0	0	2241	1290	45	5	700	5	C3orf37	3	129020839	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	83487703	129020839	69001591	30	1523											
SLITRK3	22865	broad.mit.edu	37	chr3	164908435	164908435	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atttgtaaatcctttactgtCacaatgtatatgaaagaggc	7	6	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:164908435C>T	ENST00000475390.1	-	2	627	c.184G>A	c.(184-186)Gac>Aac	p.D62N	SLITRK3_ENST00000241274.3_Missense_Mutation_p.D62N			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	62						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						CCTTTACTGTCACAATGTATA	0.373										HNSCC(40;0.11)			61	505					0	0	1	0	0	T	164908435	C	T	164908435	3	4	16	1	0	0	0	0	1	0	0	0	14798	826	29	2	2753	2	SLITRK3	3	164908435	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	35887596	164908435	33113995	31	1524											
CLCN2	1181	broad.mit.edu	37	chr3	184079221	184079221	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccagggtctgctcgtacTgcagcgcccgtggctccatc	11	15	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:184079221T>G	ENST00000265593.4	-	1	218	c.47A>C	c.(46-48)cAg>cCg	p.Q16P	CLCN2_ENST00000344937.7_Missense_Mutation_p.Q16P|CLCN2_ENST00000457512.1_Missense_Mutation_p.Q16P|CLCN2_ENST00000434054.2_Missense_Mutation_p.Q16P|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_5'UTR	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	16						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)	CTGCTCGTACTGCAGCGCCCG	0.706													44	298					0	0	1	0	0	G	184079221	T	G	184079221	3	3	16	1	0	0	0	0	1	0	0	0	3486	1580	55	3	2745	3	CLCN2	3	184079221	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08	19170786	184079221	13943209	32	1525											
CC2D2A	57545	broad.mit.edu	37	chr4	15572024	15572024	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcccacccttcctttaggatGaccgtgaaagaggaagtgga	11	10	0	3			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:15572024G>T	ENST00000424120.1	+	28	3753	c.3499G>T	c.(3499-3501)Gac>Tac	p.D1167Y	CC2D2A_ENST00000389652.5_Missense_Mutation_p.D1118Y|CC2D2A_ENST00000503292.1_Missense_Mutation_p.D1167Y|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D1167Y			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1167	C2.				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						CCTTTAGGATGACCGTGAAAG	0.408													10	42					1.58986e-06	1.62573e-06	1	1	0	T	15572024	G	T	15572024	3	4	16	1	0	0	0	0	1	0	0	0	2746	1290	45	2	3808	2	CC2D2A	4	15572024	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		15572024	175582252	33	1526											
COMMD8	54951	broad.mit.edu	37	chr4	47462175	47462175	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttacctcttcatcaggtaAgtttttaccaactatggctt	6	9	3	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:47462175A>C	ENST00000381571.4	-	2	275	c.208T>G	c.(208-210)Tta>Gta	p.L70V		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	70							protein binding			large_intestine(2)|lung(5)|prostate(1)	8						TCATCAGGTAAGTTTTTACCA	0.343													58	397					0	0	1	0	0	C	47462175	A	C	47462175	3	2	16	1	0	0	0	0	1	0	0	0	3745	69	3	3	359	3	COMMD8	4	47462175	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	31890151	47462175	143692101	34	1527											
FRYL	285527	broad.mit.edu	37	chr4	48605373	48605373	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agcatctccacaaaatttttCaaacagggaacattcacttc	4	11	3	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:48605373C>G	ENST00000358350.4	-	12	1471	c.867G>C	c.(865-867)ttG>ttC	p.L289F	FRYL_ENST00000507711.1_Missense_Mutation_p.L289F|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.L289F|FRYL_ENST00000537810.1_Missense_Mutation_p.L289F	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	289					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						CAAAATTTTTCAAACAGGGAA	0.289													46	318					0	0	1	0	0	G	48605373	C	G	48605373	3	3	16	1	0	0	0	0	1	0	0	0	6099	825	29	5	8386	5	FRYL	4	48605373	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	1143198	48605373	142548903	35	1528											
FAT4	79633	broad.mit.edu	37	chr4	126408614	126408614	+	Frame_Shift_Del	DEL	A	A	-													ggcacacttttctaattgggAaaaatggaacagcaacagta							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:126408614delA	ENST00000394329.3	+	16	12944	c.12931delA	c.(12931-12933)aafs	p.K4311fs	FAT4_ENST00000335110.5_Frame_Shift_Del_p.K2552fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4311	Laminin G-like 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						TCTAATTGGGAAAAATGGAAC	0.403													8	677	---	---	---	---						-	126408614	A	-	126408614	7	5	16	1	0	1	0	1	0	0	0	0	5725	247	9	0	12993	0	FAT4	4	126408614	Frame_Shift_Del	DEL	A	TCGA-HZ-7918-01A-11D-2154-08	77803241	126408614	64745662	36	1529											
PLK4	0	broad.mit.edu	37	chr4	128804674	128804674	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaatgaacaggtatctAaagaatagagtgaaaccctt	10	5	1	5			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:128804674A>G	ENST00000270861.5	+	4	577	c.303A>G	c.(301-303)ctA>ctG	p.L101L	PLK4_ENST00000513090.1_Silent_p.L69L|PLK4_ENST00000514379.1_Silent_p.L60L|PLK4_ENST00000515069.1_Silent_p.L101L|PLK4_ENST00000507249.1_Silent_p.L101L	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	101	Protein kinase.				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						ACAGGTATCTAAAGAATAGAG	0.323													86	257					0	0	1	0	0	G	128804674	A	G	128804674	2	3	16	1	0	0	0	0	0	0	0	1	12146	349	13	3		3	PLK4	4	128804674	Silent	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	2396060	128804674	62349602	37	1530											
FBXW7	0	broad.mit.edu	37	chr4	153332931	153332931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcgtcgtcttttgctgcCcacagagagcagttcctgat	10	11	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:153332931C>T	ENST00000281708.4	-	2	1254	c.25G>A	c.(25-27)Ggc>Agc	p.G9S	FBXW7_ENST00000604872.1_Missense_Mutation_p.G9S|FBXW7_ENST00000603548.1_Missense_Mutation_p.G9S|FBXW7_ENST00000603841.1_Missense_Mutation_p.G9S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	9					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			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)				CTTTTGCTGCCCACAGAGAGC	0.483			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								37	171					0	0	1	0	0	T	153332931	C	T	153332931	3	4	16	1	0	0	0	0	1	0	0	0	5802	623	22	2	2558	2	FBXW7	4	153332931	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	24528257	153332931	37821345	38	1531											
TRIML1	339976	broad.mit.edu	37	chr4	189065010	189065010	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aggaagtgagaggagccctgGaaaggtaggctttcattctg	15	6	2	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:189065010G>C	ENST00000332517.3	+	4	894	c.754G>C	c.(754-756)Gaa>Caa	p.E252Q	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	252					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)		AGGAGCCCTGGAAAGGTAGGC	0.488													155	741					0	0	1	0	0	C	189065010	G	C	189065010	3	2	16	1	0	0	0	0	1	0	0	0	16611	1175	41	5	768	5	TRIML1	4	189065010	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	35732079	189065010	2089266	39	1532											
PDE8B	8622	broad.mit.edu	37	chr5	76507011	76507011	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggttccgcagcccccgccgcGaccaccagcaggggccggag	15	18	0	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:76507011G>A	ENST00000264917.5	+	1	306	c.261G>A	c.(259-261)gcG>gcA	p.A87A	PDE8B_ENST00000340978.3_Silent_p.A87A|PDE8B_ENST00000346042.3_Silent_p.A87A|PDE8B_ENST00000342343.4_Silent_p.A87A|PDE8B_ENST00000333194.4_Silent_p.A87A	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	87					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)		CCCCCGCCGCGACCACCAGCA	0.751													7	10					0	0	1	0	0	A	76507011	G	A	76507011	2	1	16	1	0	0	0	0	0	0	0	1	11701	1045	37	1		1	PDE8B	5	76507011	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		76507011	104408249	40	1533											
SNX24	28966	broad.mit.edu	37	chr5	122272452	122272452	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttaagatagaagtgctaatGaatggaagaaaacattttgt	9	2	0	4			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:122272452G>C	ENST00000261369.4	+	2	269	c.84G>C	c.(82-84)atG>atC	p.M28I	SNX24_ENST00000511211.1_3'UTR|SNX24_ENST00000395451.4_Missense_Mutation_p.M61I|SNX24_ENST00000513881.1_Missense_Mutation_p.M28I|SNX24_ENST00000506996.1_Missense_Mutation_p.M28I	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	28	PX.				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)		AAGTGCTAATGAATGGAAGAA	0.313													49	172					0	0	1	0	0	C	122272452	G	C	122272452	3	2	16	1	0	0	0	0	1	0	0	0	14949	1290	45	5	90	5	SNX24	5	122272452	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	45765441	122272452	58642808	41	1534											
PPARGC1B	133522	broad.mit.edu	37	chr5	149216457	149216459	+	In_Frame_Del	DEL	GGA	GGA	-													gaggaggaagaggaagaaggGgaggaggaggaggaggacga							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:149216457_149216459delGGA	ENST00000309241.5	+	8	2471_2473	c.2439_2441delGGA	c.(2437-2442)ggg>gg	p.GE813del	PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	813	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)			aggaagaaggggaggaggaggag	0.606													13	539	---	---	---	---						-	149216459	GGA	-	149216457	7	5	16	1	0	1	0	1	0	0	0	0	12346	1219	43	0	2476	0	PPARGC1B	5	149216457	In_Frame_Del	DEL	GGA	TCGA-HZ-7918-01A-11D-2154-08	26944005	149216457	31698803	42	1535											
KIF4B	285643	broad.mit.edu	37	chr5	154395716	154395716	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agccaaacgccatctgaatgAcctccttgaagacagaaaga	8	11	1	6			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:154395716A>C	ENST00000435029.4	+	1	2457	c.2297A>C	c.(2296-2298)gAc>gCc	p.D766A		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	766	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)			CATCTGAATGACCTCCTTGAA	0.458													41	255					0	0	1	0	0	C	154395716	A	C	154395716	3	2	16	1	0	0	0	0	1	0	0	0	8346	275	10	3	2299	3	KIF4B	5	154395716	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	5179259	154395716	26519544	43	1536											
FLT4	2324	broad.mit.edu	37	chr5	180056837	180056837	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgtcatagagctcgttgccTgttgacacgcacacagtgac	10	11	1	3			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:180056837T>A	ENST00000261937.6	-	6	755		c.e6-2		FLT4_ENST00000424276.2_Splice_Site|FLT4_ENST00000502649.1_Splice_Site|FLT4_ENST00000393347.3_Splice_Site	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 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)	GCTCGTTGCCTGTTGACACGC	0.607													70	93					0	0	1	0	0	A	180056837	T	A	180056837	5	1	16	1	0	0	0	0	0	0	1	0	5977	1594	55	5	3524	5	FLT4	5	180056837	Splice_Site	SNP	T	TCGA-HZ-7918-01A-11D-2154-08	25661121	180056837	858423	44	1537											
SERPINB1	1992	broad.mit.edu	37	chr6	2838132	2838132	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaccttctgtctgtcctttGacccactggtttatggtctt	7	12	4	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:2838132G>A	ENST00000380739.5	-	4	610	c.408C>T	c.(406-408)gtC>gtT	p.V136V	SERPINB1_ENST00000537185.1_5'UTR|SERPINB1_ENST00000476896.1_5'UTR			P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	136					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		TCTGTCCTTTGACCCACTGGT	0.488													90	936					0	0	1	0	0	A	2838132	G	A	2838132	2	1	16	1	0	0	0	0	0	0	0	1	14150	1277	45	2		2	SERPINB1	6	2838132	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		2838132	168276935	45	1538											
SCGN	10590	broad.mit.edu	37	chr6	25670278	25670278	+	Nonsense_Mutation	SNP	A	A	T													aaaaggccatttctgaggctAaactggaagaatacactggc							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:25670278A>T	ENST00000377961.2	+	6	613	c.445A>T	c.(445-447)Aaa>Taa	p.K149*	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	149	EF-hand 4.					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						TTCTGAGGCTAAACTGGAAGA	0.463													101	544					0	0	1	0	0	T	25670278	A	T	25670278	4	4	16	1	0	0	0	0	0	1	0	0	13957	363	13	5	467	5	SCGN	6	25670278	Nonsense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	22832146	25670278	145444789	46	1539	15	2									
SCGN	10590	broad.mit.edu	37	chr6	25670281	25670281	+	Missense_Mutation	SNP	C	C	A													aggccatttctgaggctaaaCtggaagaatacactggcacc							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:25670281C>A	ENST00000377961.2	+	6	616	c.448C>A	c.(448-450)Ctg>Atg	p.L150M	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	150	EF-hand 4.					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						TGAGGCTAAACTGGAAGAATA	0.463													97	533					2.44874e-31	2.70755e-31	1	1	0	A	25670281	C	A	25670281	3	1	16	1	0	0	0	0	1	0	0	0	13957	564	20	2	470	2	SCGN	6	25670281	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	3	25670281	145444786	47	1540	15	2									
TNXB	7148	broad.mit.edu	37	chr6	32020759	32020759	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttctgtgggggcgggagtttCttcctctgcagctgagaaga	15	8	3	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:32020759C>G	ENST00000375244.3	-	26	9004	c.8803G>C	c.(8803-8805)Gaa>Caa	p.E2935Q	TNXB_ENST00000375247.2_Missense_Mutation_p.E2933Q			P22105	TENX_HUMAN	tenascin XB	2980	Fibronectin type-III 21.				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						GCGGGAGTTTCTTCCTCTGCA	0.637													47	209					0	0	1	0	0	G	32020759	C	G	32020759	3	3	16	1	0	0	0	0	1	0	0	0	16406	922	32	5	5992	5	TNXB	6	32020759	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	6350478	32020759	139094308	48	1541											
ZNF318	24149	broad.mit.edu	37	chr6	43305986	43305986	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattctctagcccctcctcaCtaacaactgaaactccttgc	3	16	2	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:43305986C>A	ENST00000361428.2	-	10	5827	c.5750G>T	c.(5749-5751)aGt>aTt	p.S1917I	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1917					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)			CCCCTCCTCACTAACAACTGA	0.438													75	509					3.66258e-25	3.96901e-25	1	1	0	A	43305986	C	A	43305986	3	1	16	1	0	0	0	0	1	0	0	0	17893	565	20	2	1093	2	ZNF318	6	43305986	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	11285227	43305986	127809081	49	1542											
MCM3	4172	broad.mit.edu	37	chr6	52146932	52146932	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttcttagtagcaggacAgtagtggacactgcggacga	14	8	2	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:52146932A>G	ENST00000596288.1	-	4	604	c.577T>C	c.(577-579)Tgt>Cgt	p.C193R	MCM3_ENST00000419835.2_Missense_Mutation_p.C102R|MCM3_ENST00000229854.7_Missense_Mutation_p.C148R	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	148					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)					GTAGCAGGACAGTAGTGGACA	0.488													69	465					0	0	1	0	0	G	52146932	A	G	52146932	3	3	16	1	0	0	0	0	1	0	0	0	9437	188	7	3	2040	3	MCM3	6	52146932	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	8840946	52146932	118968135	50	1543											
GCM1	8521	broad.mit.edu	37	chr6	52996784	52996811	+	Splice_Site	DEL	TAACTAACTCAAAAATCCAACCTGGAAA	TAACTAACTCAAAAATCCAACCTGGAAA	-													tcagtaatgaaactctcacgTaactaactcaaaaatccaac							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:52996784_52996811delTAACTAACTCAAAAATCCAACCTGGAAA	ENST00000259803.7	-	4	646_653	c.441_splice	c.e4+1	p.F145_splice		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	145						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.?(1)		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)					AACTCTCACGTAACTAACTCAAAAATCCAACCTGGAAAAATATAAAGC	0.518													8	161	---	---	---	---						-	52996811	TAACTAACTCAAAAATCCAACCTGGAAA	-	52996784	8	5	16	1	0	1	0	1	0	0	1	0	6337	1653	57	0		0	GCM1	6	52996784	Splice_Site	DEL	TAACTAACTCAAAAATCCAACCTGGAAA	TCGA-HZ-7918-01A-11D-2154-08	849852	52996784	118118283	51	1544											
TBX18	9096	broad.mit.edu	37	chr6	85457659	85457659	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgctgattctgataggcagtGacggttgtgaagacagtttc	13	6	1	5			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:85457659G>A	ENST00000369663.5	-	5	1255	c.918C>T	c.(916-918)gtC>gtT	p.V306V	TBX18_ENST00000606784.1_Silent_p.V148V|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	306					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)		GATAGGCAGTGACGGTTGTGA	0.438													30	190					0	0	1	0	0	A	85457659	G	A	85457659	2	1	16	1	0	0	0	0	0	0	0	1	15713	1277	45	2		2	TBX18	6	85457659	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	32460875	85457659	85657408	52	1545											
DSE	29940	broad.mit.edu	37	chr6	116579984	116579984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtgagcaggtgtatgaCctcgaaggcatgcttgacga	14	9	0	3			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:116579984C>T	ENST00000540275.1	+	2	499	c.378C>T	c.(376-378)gaC>gaT	p.D126D				Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	55					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)		AGGTGTATGACCTCGAAGGCA	0.577													19	178					0	0	1	0	0	T	116579984	C	T	116579984	2	4	16	1	0	0	0	0	0	0	0	1	4800	522	18	2		2	DSE	6	116579984	Silent	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	31122325	116579984	54535083	53	1546											
DSE	29940	broad.mit.edu	37	chr6	116580008	116580008	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcatgcttgacgatgcAcacagtcatgagcttcttgc	11	10	2	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:116580008A>G	ENST00000540275.1	+	2	523	c.402A>G	c.(400-402)gcA>gcG	p.A134A				Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	63					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)		TTGACGATGCACACAGTCATG	0.552													7	157					0	0	1	0	0	G	116580008	A	G	116580008	2	3	16	1	0	0	0	0	0	0	0	1	4800	174	6	3		3	DSE	6	116580008	Silent	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	24	116580008	54535059	54	1547											
IGF2R	3482	broad.mit.edu	37	chr6	160492963	160492963	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actccaggcccatgttcatcAgcgccgtggaggactgtgag	13	12	2	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:160492963A>C	ENST00000356956.1	+	32	4613	c.4465A>C	c.(4465-4467)Agc>Cgc	p.S1489R		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1489				S -> N (in Ref. 2; AAA59866).	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)		CATGTTCATCAGCGCCGTGGA	0.517													24	589					0	0	1	0	0	C	160492963	A	C	160492963	3	2	16	1	0	0	0	0	1	0	0	0	7620	188	7	3	4591	3	IGF2R	6	160492963	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	43912955	160492963	10622104	55	1548											
GLI3	2737	broad.mit.edu	37	chr7	42012195	42012195	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgggtctgtgtaacgcttaGtgcagcctgggattttgcac	13	8	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr7:42012195G>C	ENST00000395925.3	-	13	1928	c.1844C>G	c.(1843-1845)aCt>aGt	p.T615S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	615					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						GTAACGCTTAGTGCAGCCTGG	0.507									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				40	226					0	0	1	0	0	C	42012195	G	C	42012195	3	2	16	1	0	0	0	0	1	0	0	0	6481	1029	36	5	2910	5	GLI3	7	42012195	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		42012195	117126468	56	1549											
ABCB1	5243	broad.mit.edu	37	chr7	87178760	87178760	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggggttgcgaaccagggcAcgtgcaatggcgatcctctg	15	10	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr7:87178760A>G	ENST00000265724.3	-	15	2046	c.1629T>C	c.(1627-1629)cgT>cgC	p.R543R	ABCB1_ENST00000543898.1_Silent_p.R479R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	543	ABC transporter 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)	GAACCAGGGCACGTGCAATGG	0.547													76	392					0	0	1	0	0	G	87178760	A	G	87178760	2	3	16	1	0	0	0	0	0	0	0	1	40	146	6	3		3	ABCB1	7	87178760	Silent	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	45166565	87178760	71959903	57	1550											
SLC25A13	10165	broad.mit.edu	37	chr7	95818665	95818665	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcttccagaggagcaatccGttcaatgtctgctaaggtca	9	11	4	1	rs142308242		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr7:95818665G>T	ENST00000416240.2	-	9	1064	c.874C>A	c.(874-876)Cgg>Agg	p.R292R	SLC25A13_ENST00000265631.5_Silent_p.R292R|SLC25A13_ENST00000542654.1_Silent_p.R184R	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	292					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)	GGAGCAATCCGTTCAATGTCT	0.408													31	148					9.17885e-22	9.86817e-22	1	1	0	T	95818665	G	T	95818665	2	4	16	1	0	0	0	0	0	0	0	1	14530	1144	40	4		4	SLC25A13	7	95818665	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	8639905	95818665	63319998	58	1551											
FAM180A	389558	broad.mit.edu	37	chr7	135418815	135418815	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgcgcccagatgtccttctGatggccgtgggacagggctg	15	12	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr7:135418815G>C	ENST00000338588.3	-	3	695	c.430C>G	c.(430-432)Cag>Gag	p.Q144E	FAM180A_ENST00000415751.1_Missense_Mutation_p.Q144E	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	144						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						ATGTCCTTCTGATGGCCGTGG	0.607													39	281					0	0	1	0	0	C	135418815	G	C	135418815	3	2	16	1	0	0	0	0	1	0	0	0	5537	1299	45	5	95	5	FAM180A	7	135418815	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	39600150	135418815	23719848	59	1552											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864416	22864416	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctgcagttctggaagtccCacctccgcaatgtgcagcgg	11	14	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:22864416C>G	ENST00000251822.6	+	5	1195	c.658C>G	c.(658-660)Cac>Gac	p.H220D	RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.H227D|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.H242D	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	220					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)		CTGGAAGTCCCACCTCCGCAA	0.652													82	529					0	0	1	0	0	G	22864416	C	G	22864416	3	3	16	1	0	0	0	0	1	0	0	0	13384	594	21	5	757	5	RHOBTB2	8	22864416	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08		22864416	123499606	60	1553											
PRKDC	5591	broad.mit.edu	37	chr8	48744458	48744458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcataaaccgtctgcgcaGtcgtagtaggtccgtccggc	11	14	2	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:48744458G>A	ENST00000314191.2	-	61	8235	c.8179C>T	c.(8179-8181)Ctg>Ttg	p.L2727L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L2727L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2728	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)				CGTCTGCGCAGTCGTAGTAGG	0.552								Non-homologous end-joining					142	774					0	0	1	0	0	A	48744458	G	A	48744458	2	1	16	1	0	0	0	0	0	0	0	1	12573	1020	36	2		2	PRKDC	8	48744458	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	25880042	48744458	97619564	61	1554											
CSPP1	79848	broad.mit.edu	37	chr8	68062034	68062034	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcagctgatttgaataggatGcacagacaaaatatagatgc	9	6	1	4			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:68062034G>C	ENST00000262210.5	+	16	2008	c.1977G>C	c.(1975-1977)atG>atC	p.M659I	CSPP1_ENST00000412460.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	694						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)			TGAATAGGATGCACAGACAAA	0.328													111	851					0	0	1	0	0	C	68062034	G	C	68062034	3	2	16	1	0	0	0	0	1	0	0	0	3987	1319	46	5	2152	5	CSPP1	8	68062034	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	19317576	68062034	78301988	62	1555											
PTDSS1	9791	broad.mit.edu	37	chr8	97311970	97311970	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgccgagtgctggtgggatCaagtcattctggacatcctg	13	9	3	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:97311970C>G	ENST00000517309.1	+	6	975	c.649C>G	c.(649-651)Caa>Gaa	p.Q217E	PTDSS1_ENST00000455950.2_Missense_Mutation_p.Q71E|PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000522072.1_Missense_Mutation_p.Q14E	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	217					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)	CTGGTGGGATCAAGTCATTCT	0.493													64	841					0	0	1	0	0	G	97311970	C	G	97311970	3	3	16	1	0	0	0	0	1	0	0	0	12785	827	29	5	671	5	PTDSS1	8	97311970	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	29249936	97311970	49052052	63	1556											
VPS13B	157680	broad.mit.edu	37	chr8	100155279	100155279	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggagaagtccaccaaaagcCttgttataggtcctcttgat	9	9	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:100155279C>G	ENST00000395996.1	+	13	1840	c.1729C>G	c.(1729-1731)Ctt>Gtt	p.L577V	VPS13B_ENST00000357162.2_Missense_Mutation_p.L577V|VPS13B_ENST00000358544.2_Missense_Mutation_p.L577V|VPS13B_ENST00000355155.1_Missense_Mutation_p.L577V			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	577					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)			CACCAAAAGCCTTGTTATAGG	0.373													143	335					0	0	1	0	0	G	100155279	C	G	100155279	3	3	16	1	0	0	0	0	1	0	0	0	17250	681	24	5	1817	5	VPS13B	8	100155279	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	2843309	100155279	46208743	64	1557											
ZHX1	11244	broad.mit.edu	37	chr8	124267697	124267697	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctgtagattctgcttgctCtgcattctcctctttaacaa	5	11	5	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:124267697C>T	ENST00000395571.3	-	3	1107	c.490G>A	c.(490-492)Gag>Aag	p.E164K	ZHX1_ENST00000522655.1_Missense_Mutation_p.E164K|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.E164K	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	164					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)			TCTGCTTGCTCTGCATTCTCC	0.323													29	636					0	0	1	0	0	T	124267697	C	T	124267697	3	4	16	1	0	0	0	0	1	0	0	0	17733	922	32	2	2135	2	ZHX1	8	124267697	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	24112418	124267697	22096325	65	1558											
KLHL38	340359	broad.mit.edu	37	chr8	124664765	124664792	+	Frame_Shift_Del	DEL	GCTGGGGGCCAACTGGCTCTGCAAGTAC	GCTGGGGGCCAACTGGCTCTGCAAGTAC	-													ctgatcatacccaggcagttGctgggggccaactggctctg					rs7387544	by1000genomes	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:124664765_124664792delGCTGGGGGCCAACTGGCTCTGCAAGTAC	ENST00000325995.7	-	1	398_425	c.375_402delGTACTTGCAGAGCCAGTTGGCCCCCAGC	c.(373-402)tcfs	p.SYLQSQLAPS125fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	125								p.S134R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCAGGCAGTTGCTGGGGGCCAACTGGCTCTGCAAGTACGAGGAGCAGG	0.575													15	279	---	---	---	---						-	124664792	GCTGGGGGCCAACTGGCTCTGCAAGTAC	-	124664765	7	5	16	1	0	1	0	1	0	0	0	0	8433	1310	46	0	1355	0	KLHL38	8	124664765	Frame_Shift_Del	DEL	GCTGGGGGCCAACTGGCTCTGCAAGTAC	TCGA-HZ-7918-01A-11D-2154-08	397068	124664765	21699257	66	1559											
LRRC6	23639	broad.mit.edu	37	chr8	133595976	133595976	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctctgctcctgtccgaggtAgttttcatagatttgaatgc	9	9	2	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:133595976A>T	ENST00000519595.1	-	11	1289	c.1191T>A	c.(1189-1191)acT>acA	p.T397T	LRRC6_ENST00000518642.1_Silent_p.T394T|LRRC6_ENST00000250173.1_Silent_p.T397T			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	397						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)			TGTCCGAGGTAGTTTTCATAG	0.403													32	325					0	0	1	0	0	T	133595976	A	T	133595976	2	4	16	1	0	0	0	0	0	0	0	1	9061	407	15	5		5	LRRC6	8	133595976	Silent	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	8931211	133595976	12768046	67	1560											
SLC45A4	57210	broad.mit.edu	37	chr8	142222650	142222650	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gagttcccggggctgtggtgGatgtactgcaagagaggaaa	17	6	0	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:142222650G>C	ENST00000519067.1	-	7	2097	c.1794C>G	c.(1792-1794)atC>atG	p.I598M	SLC45A4_ENST00000517878.1_Missense_Mutation_p.I649M|SLC45A4_ENST00000024061.3_Missense_Mutation_p.I598M|SLC45A4_ENST00000433583.2_Missense_Mutation_p.I591M			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	649					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)			GGCTGTGGTGGATGTACTGCA	0.567													11	204					0	0	1	0	0	C	142222650	G	C	142222650	3	2	16	1	0	0	0	0	1	0	0	0	14698	1164	41	5	610	5	SLC45A4	8	142222650	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	8626674	142222650	4141372	68	1561											
TSNARE1	203062	broad.mit.edu	37	chr8	143427196	143427196	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcggttctgcagcttgctcTctggcgacgggcaggggaaa	16	10	2	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:143427196T>G	ENST00000524325.1	-	3	321	c.146A>C	c.(145-147)gAg>gCg	p.E49A	TSNARE1_ENST00000520166.1_Missense_Mutation_p.E49A|TSNARE1_ENST00000307180.3_Missense_Mutation_p.E49A|TSNARE1_ENST00000519651.1_Intron			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	49					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGCTTGCTCTCTGGCGACGG	0.597													22	329					0	0	1	0	0	G	143427196	T	G	143427196	3	3	16	1	0	0	0	0	1	0	0	0	16691	1551	54	3	1439	3	TSNARE1	8	143427196	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08	1204546	143427196	2936826	69	1562											
SHARPIN	81858	broad.mit.edu	37	chr8	145154701	145154701	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccacttgggctgcccccttCtcgtctccacctgcaatagc	8	18	2	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:145154701C>G	ENST00000398712.2	-	4	1000	c.564G>C	c.(562-564)gaG>gaC	p.E188D	SHARPIN_ENST00000533948.1_5'UTR	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	188	Interaction with SHANK1 (By similarity).				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(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;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGCCCCCTTCTCGTCTCCAC	0.637													44	379					0	0	1	0	0	G	145154701	C	G	145154701	3	3	16	1	0	0	0	0	1	0	0	0	14322	912	32	5	619	5	SHARPIN	8	145154701	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	1727505	145154701	1209321	70	1563											
RFX3	5991	broad.mit.edu	37	chr9	3271027	3271027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcggtaatggtagtgccaTcagttggagtagagggagaa	15	4	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:3271027T>C	ENST00000382004.3	-	11	1489	c.1178A>G	c.(1177-1179)gAt>gGt	p.D393G	RFX3_ENST00000358730.2_Missense_Mutation_p.D393G|RFX3_ENST00000302303.1_Missense_Mutation_p.D393G	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	393					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)		GGTAGTGCCATCAGTTGGAGT	0.368													48	362					0	0	1	0	0	C	3271027	T	C	3271027	3	2	16	1	0	0	0	0	1	0	0	0	13316	1435	50	3	1259	3	RFX3	9	3271027	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08		3271027	137942404	71	1564											
TAF1L	138474	broad.mit.edu	37	chr9	32634851	32634851	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagttcggtgacacttggcaAcagcttggtggcatcatgct	12	9	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:32634851A>G	ENST00000242310.4	-	1	816	c.727T>C	c.(727-729)Ttg>Ctg	p.L243L	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	243					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)		ACACTTGGCAACAGCTTGGTG	0.488													46	523					0	0	1	0	0	G	32634851	A	G	32634851	2	3	16	1	0	0	0	0	0	0	0	1	15580	40	2	3		3	TAF1L	9	32634851	Silent	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	29363824	32634851	108578580	72	1565											
NOL6	65083	broad.mit.edu	37	chr9	33468069	33468069	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cggatcatgggtttgggagtCatcaacagcaggtggaaccc	14	9	3	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:33468069C>T	ENST00000379471.2	-	11	1470	c.1383G>A	c.(1381-1383)atG>atA	p.M461I	NOL6_ENST00000455041.2_Missense_Mutation_p.M409I|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	461					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)		GTTTGGGAGTCATCAACAGCA	0.567													29	590					0	0	1	0	0	T	33468069	C	T	33468069	3	4	16	1	0	0	0	0	1	0	0	0	10572	826	29	2	2121	2	NOL6	9	33468069	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	833218	33468069	107745362	73	1566											
PIGO	84720	broad.mit.edu	37	chr9	35095294	35095294	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agacaggaggctctctaggcAcgtgtgaatgctggggctgg	17	8	1	2	rs148704151		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:35095294A>T	ENST00000378617.3	-	2	663	c.269T>A	c.(268-270)gTg>gAg	p.V90E	PIGO_ENST00000298004.5_Missense_Mutation_p.V90E|PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000361778.2_Missense_Mutation_p.V90E|PIGO_ENST00000341666.3_Missense_Mutation_p.V90E	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	90					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)			CTCTCTAGGCACGTGTGAATG	0.577													48	717					0	0	1	0	0	T	35095294	A	T	35095294	3	4	16	1	0	0	0	0	1	0	0	0	11942	159	6	5	3040	5	PIGO	9	35095294	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	1627225	35095294	106118137	74	1567											
RNF38	152006	broad.mit.edu	37	chr9	36390574	36390574	+	Translation_Start_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttcacaaatcaccttgttagGatggccaggtagagatgctg	11	8	2	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:36390574G>C	ENST00000357058.3	-	0	409				RNF38_ENST00000350199.4_Intron|RNF38_ENST00000353739.4_Intron|RNF38_ENST00000377877.4_Intron|RNF38_ENST00000377885.2_De_novo_Start_OutOfFrame|RNF38_ENST00000259605.6_Missense_Mutation_p.P18A|RNF38_ENST00000491349.1_5'UTR	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	ring finger protein 38								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)			ACCTTGTTAGGATGGCCAGGT	0.488													74	488					0	0	1	0	0	C	36390574	G	C	36390574	1	2	16	1	0	0	0	0	0	0	0	0	13542	1174	41	5		5	RNF38	9	36390574	Translation_Start_Site	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	1295280	36390574	104822857	75	1568											
TMOD1	7111	broad.mit.edu	37	chr9	100328234	100328234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagtaatgaccccgtggcGtatgtatgtacctttctgtt	11	9	1	1	rs142987399		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:100328234G>A	ENST00000395211.2	+	7	859	c.723G>A	c.(721-723)gcG>gcA	p.A241A	TMOD1_ENST00000259365.3_Silent_p.A241A|TMOD1_ENST00000375175.1_Silent_p.A114A	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN	tropomodulin 1	241					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)		ACCCCGTGGCGTATGTATGTA	0.493													59	300					0	0	1	0	0	A	100328234	G	A	100328234	2	1	16	1	0	0	0	0	0	0	0	1	16293	1132	40	1		1	TMOD1	9	100328234	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	63937660	100328234	40885197	76	1569											
OR1J2	26740	broad.mit.edu	37	chr9	125273681	125273681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgagctggtcatgttcAcagtaggggtggtggtcatt	14	6	4	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:125273681A>G	ENST00000335302.5	+	1	601	c.601A>G	c.(601-603)Aca>Gca	p.T201A		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	201					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						GGTCATGTTCACAGTAGGGGT	0.517													74	330					0	0	1	0	0	G	125273681	A	G	125273681	3	3	16	1	0	0	0	0	1	0	0	0	11008	159	6	3	603	3	OR1J2	9	125273681	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	24945447	125273681	15939750	77	1570											
FNBP1	23048	broad.mit.edu	37	chr9	132662705	132662705	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctgtgcagatactgtacCtctcacggtcctgggcgcag	13	13	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:132662705C>T	ENST00000420781.1	-	14	1741	c.1523_splice	c.e14+1	p.S508_splice	FNBP1_ENST00000355681.3_Splice_Site_p.S488_splice|FNBP1_ENST00000446176.2_Splice_Site_p.S517_splice|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000443566.2_Splice_Site_p.S145_splice			Q96RU3	FNBP1_HUMAN	formin binding protein 1	517	Interaction with PDE6G (By similarity).|Interaction with RND2 (By similarity).|Required for self-association 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)		GATACTGTACCTCTCACGGTC	0.572			T	MLL	AML								9	73					0	0	1	0	0	T	132662705	C	T	132662705	5	4	16	1	0	0	0	0	0	0	1	0	5998	695	24	2	319	2	FNBP1	9	132662705	Splice_Site	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	7389024	132662705	8550726	78	1571											
PITRM1	10531	broad.mit.edu	37	chr10	3185639	3185639	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcattcacccacgtaattcaCcgggaagggcatcaggaagt	11	11	3	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr10:3185639C>A	ENST00000380989.2	-	23	2628	c.2590G>T	c.(2590-2592)Gtg>Ttg	p.V864L	PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.V765L|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.V421L|PITRM1_ENST00000224949.4_Missense_Mutation_p.V863L|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000598280.1_RNA	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	765					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						ACGTAATTCACCGGGAAGGGC	0.592													18	272					0.000566183	0.000570377	1	1	0	A	3185639	C	A	3185639	3	1	16	1	0	0	0	0	1	0	0	0	12001	507	18	2	546	2	PITRM1	10	3185639	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08		3185639	132349108	79	1572											
C1QL3	389941	broad.mit.edu	37	chr10	16562659	16562659	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcgtagccttcatgctGccgcttgaggccggcgtaga	12	14	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr10:16562659G>A	ENST00000298943.3	-	1	1345	c.406C>T	c.(406-408)Cag>Tag	p.Q136*		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	136	C1q.					collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCTTCATGCTGCCGCTTGAGG	0.687													12	318					0	0	1	0	0	A	16562659	G	A	16562659	4	1	16	1	0	0	0	0	0	1	0	0	1973	1328	46	2	369	2	C1QL3	10	16562659	Nonsense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	13377020	16562659	118972088	80	1573											
CCDC6	8030	broad.mit.edu	37	chr10	61552865	61552865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgcttctccgtggtgaaGgcctctgcagaggggacagg	16	9	2	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr10:61552865G>A	ENST00000263102.6	-	9	1466	c.1235C>T	c.(1234-1236)cCt>cTt	p.P412L		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	412						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)		CCGTGGTGAAGGCCTCTGCAG	0.562			T	RET	NSCLC								21	134					0	0	1	0	0	A	61552865	G	A	61552865	3	1	16	1	0	0	0	0	1	0	0	0	2850	1000	35	2	193	2	CCDC6	10	61552865	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	44990206	61552865	73981882	81	1574											
DLG5	9231	broad.mit.edu	37	chr10	79589222	79589222	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccccattgaggagcgccttGatggcctgcttcttgtcctt	10	13	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr10:79589222G>A	ENST00000372391.2	-	12	2081	c.2076C>T	c.(2074-2076)atC>atT	p.I692I	DLG5_ENST00000372388.2_Silent_p.I692I	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	692	PDZ 1.				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)			GGAGCGCCTTGATGGCCTGCT	0.587													25	750					0	0	1	0	0	A	79589222	G	A	79589222	2	1	16	1	0	0	0	0	0	0	0	1	4586	1280	45	2		2	DLG5	10	79589222	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	18036357	79589222	55945525	82	1575											
HBE1	3046	broad.mit.edu	37	chr11	5289744	5289744	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atggcgacagcagacaccagCttctgccaggcagcctgcac	11	15	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:5289744C>G	ENST00000380237.1	-	5	743	c.399G>C	c.(397-399)aaG>aaC	p.K133N	HBE1_ENST00000292896.2_Missense_Mutation_p.K133N|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	133					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGACACCAGCTTCTGCCAGG	0.532													109	531					0	0	1	0	0	G	5289744	C	G	5289744	3	3	16	1	0	0	0	0	1	0	0	0	7021	796	28	5	48	5	HBE1	11	5289744	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08		5289744	129716772	83	1576											
SLC3A2	6520	broad.mit.edu	37	chr11	62648627	62648627	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagaagaatggtctggtgaaGatcaaggtggcggaagacga	17	4	2	5			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:62648627G>C	ENST00000377892.1	+	5	752	c.528G>C	c.(526-528)aaG>aaC	p.K176N	SLC3A2_ENST00000377891.2_Missense_Mutation_p.K146N|SLC3A2_ENST00000377890.2_Missense_Mutation_p.K145N|SLC3A2_ENST00000338663.7_Missense_Mutation_p.K44N|SLC3A2_ENST00000535296.1_Missense_Mutation_p.K114N|SLC3A2_ENST00000377889.2_Missense_Mutation_p.K83N			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	145					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GTCTGGTGAAGATCAAGGTGG	0.657											OREG0021031	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	44					0	0	1	0	0	C	62648627	G	C	62648627	3	2	16	1	0	0	0	0	1	0	0	0	14682	933	33	5	549	5	SLC3A2	11	62648627	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	57358883	62648627	72357889	84	1577											
CDCA5	113130	broad.mit.edu	37	chr11	64847203	64847203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtgtcttgaaaaggtcCtccttagtaagctccctgcc	9	12	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:64847203C>T	ENST00000275517.3	-	5	472	c.300G>A	c.(298-300)gaG>gaA	p.E100E	CDCA5_ENST00000404147.3_Silent_p.E100E	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	100					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						TGAAAAGGTCCTCCTTAGTAA	0.567													4	67					0	0	1	0	0	T	64847203	C	T	64847203	2	4	16	1	0	0	0	0	0	0	0	1	3111	680	24	2		2	CDCA5	11	64847203	Silent	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	2198576	64847203	70159313	85	1578											
EHBP1L1	254102	broad.mit.edu	37	chr11	65351822	65351822	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccacatcctggcgcaaCggcttggccttctgtgccat	9	15	2	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:65351822C>G	ENST00000309295.4	+	10	3469	c.3204C>G	c.(3202-3204)aaC>aaG	p.N1068K		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1068	CH.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCTGGCGCAACGGCTTGGCCT	0.622													16	415					0	0	1	0	0	G	65351822	C	G	65351822	3	3	16	1	0	0	0	0	1	0	0	0	5002	535	19	5	3242	5	EHBP1L1	11	65351822	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	504619	65351822	69654694	86	1579											
CTSF	8722	broad.mit.edu	37	chr11	66331559	66331559	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaagccagcaagactcacCttctcaccccagtcagtgcc	7	18	3	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:66331559C>T	ENST00000310325.5	-	12	1489	c.1380_splice	c.e12+1	p.K460_splice		NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	460				SDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASSAV VD -> EFRCLSCIQPGHRQGWDHSISGPLEGK (in Ref. 9).	proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAAGACTCACCTTCTCACCCC	0.612													14	112					0	0	1	0	0	T	66331559	C	T	66331559	5	4	16	1	0	0	0	0	0	0	1	0	4058	695	24	2	82	2	CTSF	11	66331559	Splice_Site	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	979737	66331559	68674957	87	1580											
ANKRD13D	338692	broad.mit.edu	37	chr11	67067334	67067334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtccttcctggggatggCgcagcagcattcctcccaca	10	16	0	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:67067334C>T	ENST00000447274.2	+	9	1831	c.656C>T	c.(655-657)gCg>gTg	p.A219V	ANKRD13D_ENST00000308440.6_Missense_Mutation_p.A219V|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.A306V|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.A219V			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	219										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTGGGGATGGCGCAGCAGCAT	0.687													27	291					0	0	1	0	0	T	67067334	C	T	67067334	3	4	16	1	0	0	0	0	1	0	0	0	640	768	27	1	951	1	ANKRD13D	11	67067334	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	735775	67067334	67939182	88	1581											
SSH3	54961	broad.mit.edu	37	chr11	67076881	67076899	+	Frame_Shift_Del	DEL	TTGAACATGGCCCGGGAGA	TTGAACATGGCCCGGGAGA	-													gggacagggtcacccacatcTtgaacatggcccgggagatt					rs74859815	by1000genomes	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:67076881_67076899delTTGAACATGGCCCGGGAGA	ENST00000308127.4	+	11	1253_1271	c.1075_1093delTTGAACATGGCCCGGGAGA	c.(1075-1095)ttfs	p.LNMAREI359fs	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Frame_Shift_Del_p.LNMAREI359fs|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	359	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CACCCACATCTTGAACATGGCCCGGGAGATTGACAACTT	0.635													24	415	---	---	---	---						-	67076899	TTGAACATGGCCCGGGAGA	-	67076881	7	5	16	1	0	1	0	1	0	0	0	0	15242	1606	56	0	1117	0	SSH3	11	67076881	Frame_Shift_Del	DEL	TTGAACATGGCCCGGGAGA	TCGA-HZ-7918-01A-11D-2154-08	9547	67076881	67929635	89	1582											
MRPL48	51642	broad.mit.edu	37	chr11	73555970	73555980	+	Frame_Shift_Del	DEL	CCCAGTATGTT	CCCAGTATGTT	-													gaccctggcagagagttatgCccagtatgttcacaacctct							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:73555970_73555980delCCCAGTATGTT	ENST00000314282.7	+	2	1374_1384	c.23_33delCCCAGTATGTT	c.(22-33)gfs	p.AQYV8fs	MRPL48_ENST00000411840.2_Frame_Shift_Del_p.AQYV8fs|MRPL48_ENST00000310614.7_Frame_Shift_Del_p.AQYV107fs|MRPL48_ENST00000535529.1_Frame_Shift_Del_p.AQYV89fs|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000398483.3_Frame_Shift_Del_p.AQYV8fs			Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	107					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			kidney(1)	1						GAGAGTTATGCCCAGTATGTTCACAACCTCT	0.403													40	241	---	---	---	---						-	73555980	CCCAGTATGTT	-	73555970	7	5	16	1	0	1	0	1	0	0	0	0	9861	739	26	0	338	0	MRPL48	11	73555970	Frame_Shift_Del	DEL	CCCAGTATGTT	TCGA-HZ-7918-01A-11D-2154-08	6479089	73555970	61450546	90	1583											
NCAM1	4684	broad.mit.edu	37	chr11	113105776	113105776	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcatggagggcatcgtcaCcatcgtgggcctgaagcccg	14	13	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:113105776C>A	ENST00000316851.7	+	13	1685	c.1685C>A	c.(1684-1686)aCc>aAc	p.T562N	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.T571N|NCAM1_ENST00000533760.1_Missense_Mutation_p.T444N	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	572	Fibronectin type-III 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)		GGCATCGTCACCATCGTGGGC	0.547													10	35					0.000442599	0.000447535	1	1	0	A	113105776	C	A	113105776	3	1	16	1	0	0	0	0	1	0	0	0	10249	507	18	2	1770	2	NCAM1	11	113105776	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	39549806	113105776	21900740	91	1584											
BSX	390259	broad.mit.edu	37	chr11	122850021	122850021	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gctccactcgttctggcgtgGacaggtagcgctggatctcg	14	12	2	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:122850021G>C	ENST00000343035.2	-	2	455	c.407C>G	c.(406-408)tCc>tGc	p.S136C		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	136										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)		TTCTGGCGTGGACAGGTAGCG	0.657													24	459					0	0	1	0	0	C	122850021	G	C	122850021	3	2	16	1	0	0	0	0	1	0	0	0	1537	1174	41	5	301	5	BSX	11	122850021	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	9744245	122850021	12156495	92	1585											
CACNA1C	775	broad.mit.edu	37	chr12	2760901	2760901	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agccgtggggagggcatccgGacgctgctgtggaccttcat	16	11	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:2760901G>C	ENST00000399655.1	+	32	4306	c.4041G>C	c.(4039-4041)cgG>cgC	p.R1347R	CACNA1C_ENST00000399621.1_Silent_p.R1347R|CACNA1C_ENST00000399591.1_Silent_p.R1336R|CACNA1C_ENST00000344100.3_Silent_p.R1369R|CACNA1C_ENST00000399637.1_Silent_p.R1347R|CACNA1C_ENST00000399595.1_Silent_p.R1336R|CACNA1C_ENST00000399617.1_Silent_p.R1347R|CACNA1C_ENST00000399597.1_Silent_p.R1347R|CACNA1C_ENST00000399649.1_Silent_p.R1334R|CACNA1C_ENST00000347598.4_Silent_p.R1395R|CACNA1C_ENST00000399606.1_Silent_p.R1367R|CACNA1C_ENST00000399634.1_Silent_p.R1347R|CACNA1C_ENST00000399641.1_Silent_p.R1347R|CACNA1C_ENST00000402845.3_Silent_p.R1347R|CACNA1C_ENST00000327702.7_Silent_p.R1347R|CACNA1C_ENST00000399629.1_Silent_p.R1364R|CACNA1C_ENST00000399601.1_Silent_p.R1347R|CACNA1C_ENST00000335762.5_Silent_p.R1372R|CACNA1C_ENST00000399644.1_Silent_p.R1347R|CACNA1C_ENST00000399638.1_Silent_p.R1375R|CACNA1C_ENST00000399603.1_Silent_p.R1347R|CACNA1C_ENST00000406454.3_Silent_p.R1347R	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	1395					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)	AGGGCATCCGGACGCTGCTGT	0.637													39	205					0	0	1	0	0	C	2760901	G	C	2760901	2	2	16	1	0	0	0	0	0	0	0	1	2558	1161	41	5		5	CACNA1C	12	2760901	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		2760901	131090994	93	1586											
CHD4	1108	broad.mit.edu	37	chr12	6692545	6692545	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgttctacctcctcttcctcCtgggacagagggagggccag	12	14	2	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:6692545C>A	ENST00000309577.6	-	26	4043		c.e26-1		CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000357008.2_Splice_Site|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000540960.1_Intron			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			central_nervous_system(2)	2						CCTCTTCCTCCTGGGACAGAG	0.532													24	660					3.5997e-14	3.78038e-14	1	1	0	A	6692545	C	A	6692545	5	1	16	1	0	0	0	0	0	0	1	0	3349	695	24	2	1919	2	CHD4	12	6692545	Splice_Site	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	3931644	6692545	127159350	94	1587											
PHC1	1911	broad.mit.edu	37	chr12	9087018	9087032	+	In_Frame_Del	DEL	ATTCTCACCCACATC	ATTCTCACCCACATC	-													aggccatcgtgaagccccagAttctcacccacatcattgaa							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:9087018_9087032delATTCTCACCCACATC	ENST00000433083.2	+	9	2207_2221	c.2062_2076delATTCTCACCCACATC	c.(2062-2076)del	p.ILTHI688del	PHC1_ENST00000544916.1_In_Frame_Del_p.ILTHI733del|PHC1_ENST00000536844.1_In_Frame_Del_p.ILTHI339del|PHC1_ENST00000543824.1_In_Frame_Del_p.ILTHI733del			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	733					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						GAAGCCCCAGATTCTCACCCACATCATTGAAGGCT	0.544													8	507	---	---	---	---						-	9087032	ATTCTCACCCACATC	-	9087018	7	5	16	1	0	1	0	1	0	0	0	0	11864	333	12	0	2231	0	PHC1	12	9087018	In_Frame_Del	DEL	ATTCTCACCCACATC	TCGA-HZ-7918-01A-11D-2154-08	2394473	9087018	124764877	95	1588											
KIAA1467	57613	broad.mit.edu	37	chr12	13219646	13219646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctgtgaagtacaacatcGttggagttgggaatctgatt	12	6	1	2	rs145573782	by1000genomes	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:13219646G>A	ENST00000197268.8	+	6	1045	c.925G>A	c.(925-927)Gtt>Att	p.V309I		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	309						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)		GTACAACATCGTTGGAGTTGG	0.507													18	399					0	0	1	0	0	A	13219646	G	A	13219646	3	1	16	1	0	0	0	0	1	0	0	0	8277	1145	40	1	947	1	KIAA1467	12	13219646	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	4132628	13219646	120632249	96	1589											
SLC2A13	114134	broad.mit.edu	37	chr12	40499348	40499348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaggaagccgcccagcgcgGagaagacggccaccacgtac	13	15	0	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:40499348G>A	ENST00000280871.4	-	1	313	c.263C>T	c.(262-264)tCc>tTc	p.S88F	SLC2A13_ENST00000380858.1_Missense_Mutation_p.S88F	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	88						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)				GCCCAGCGCGGAGAAGACGGC	0.721										HNSCC(50;0.14)			6	34					0	0	1	0	0	A	40499348	G	A	40499348	3	1	16	1	0	0	0	0	1	0	0	0	14597	1174	41	2	1723	2	SLC2A13	12	40499348	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	27279702	40499348	93352547	97	1590											
ARID2	196528	broad.mit.edu	37	chr12	46245520	46245520	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agcaggaattaccatgagcgGaacgcagacaggagttggac	14	8	0	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:46245520G>C	ENST00000334344.6	+	15	3786	c.3614G>C	c.(3613-3615)gGa>gCa	p.G1205A	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.G1056A|ARID2_ENST00000444670.1_Missense_Mutation_p.G815A	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1205					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)		ACCATGAGCGGAACGCAGACA	0.483			"N, S, F"		hepatocellular carcinoma								50	249					0	0	1	0	0	C	46245520	G	C	46245520	3	2	16	1	0	0	0	0	1	0	0	0	912	1174	41	5	3672	5	ARID2	12	46245520	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	5746172	46245520	87606375	98	1591											
TDG	6996	broad.mit.edu	37	chr12	104373759	104373759	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agacacatttaaagtaaaaaGaaaagtagaccgttttaatg	7	4	0	3			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:104373759G>A	ENST00000392872.3	+	3	551	c.317G>A	c.(316-318)aGa>aAa	p.R106K	TDG_ENST00000544861.1_5'UTR|TDG_ENST00000542036.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.R102K	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	106					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)		AAAGTAAAAAGAAAAGTAGAC	0.353								Base excision repair (BER), DNA glycosylases					29	294					0	0	1	0	0	A	104373759	G	A	104373759	3	1	16	1	0	0	0	0	1	0	0	0	15784	942	33	2	327	2	TDG	12	104373759	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	58128239	104373759	29478136	99	1592											
SNRNP35	11066	broad.mit.edu	37	chr12	123950763	123950764	+	Frame_Shift_Del	DEL	GA	GA	-													tgtggcccgacaatgactggGagagagagagggacttcaga							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:123950763_123950764delGA	ENST00000526639.2	+	2	1255_1256	c.676_677delGA	c.(676-678)gfs	p.E226fs	SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000412157.2_Frame_Shift_Del_p.E231fs|SNRNP35_ENST00000350887.5_Frame_Shift_Del_p.E226fs	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	226	Arg-rich.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding	p.E226*(1)		NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						CAATGACTGGGAGAGAGAGAGG	0.554													7	344	---	---	---	---						-	123950764	GA	-	123950763	7	5	16	1	0	1	0	1	0	0	0	0	14909	1175	41	0	697	0	SNRNP35	12	123950763	Frame_Shift_Del	DEL	GA	TCGA-HZ-7918-01A-11D-2154-08	19577004	123950763	9901132	100	1593											
ZIC5	85416	broad.mit.edu	37	chr13	100617947	100617947	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtgagtgtaggatttgTcacagcctcgaatcttgcag	13	7	2	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr13:100617947T>A	ENST00000267294.4	-	2	1909	c.1676A>T	c.(1675-1677)gAc>gTc	p.D559V		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	559					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)					GTAGGATTTGTCACAGCCTCG	0.522													140	394					0	0	1	0	0	A	100617947	T	A	100617947	3	1	16	1	0	0	0	0	1	0	0	0	17740	1667	58	5	319	5	ZIC5	13	100617947	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08		100617947	14551931	101	1594											
CHD8	57680	broad.mit.edu	37	chr14	21861651	21861651	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcacttagcttctcttccttCtcatcctcactctcatcagt	2	16	6	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:21861651C>T	ENST00000399982.2	-	31	6367	c.6303G>A	c.(6301-6303)gaG>gaA	p.E2101E	CHD8_ENST00000557364.1_Silent_p.E2101E|CHD8_ENST00000430710.3_Silent_p.E1822E	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2101					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)		TCTCTTCCTTCTCATCCTCAC	0.498													7	37					0	0	1	0	0	T	21861651	C	T	21861651	2	4	16	1	0	0	0	0	0	0	0	1	3353	912	32	2		2	CHD8	14	21861651	Silent	SNP	C	TCGA-HZ-7918-01A-11D-2154-08		21861651	85487889	102	1595											
COCH	1690	broad.mit.edu	37	chr14	31355263	31355270	+	Frame_Shift_Del	DEL	GCTGTACA	GCTGTACA	-													acattggtgccaagatagctGctgtacagtttacttatgat							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:31355263_31355270delGCTGTACA	ENST00000460581.2	+	9	1432_1439	c.886_893delGCTGTACA	c.(886-894)gfs	p.AVQ296fs	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000396618.3_Frame_Shift_Del_p.AVQ408fs|COCH_ENST00000382493.4_Frame_Shift_Del_p.AVQ259fs|COCH_ENST00000475087.1_Frame_Shift_Del_p.AVQ408fs|COCH_ENST00000216361.4_Frame_Shift_Del_p.AVQ408fs			O43405	COCH_HUMAN	cochlin	408	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)		CAAGATAGCTGCTGTACAGTTTACTTAT	0.442													38	417	---	---	---	---						-	31355270	GCTGTACA	-	31355263	7	5	16	1	0	1	0	1	0	0	0	0	3679	1319	46	0	1260	0	COCH	14	31355263	Frame_Shift_Del	DEL	GCTGTACA	TCGA-HZ-7918-01A-11D-2154-08	9493612	31355263	75994277	103	1596											
NFKBIA	4792	broad.mit.edu	37	chr14	35873637	35873637	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cacttacgagtccccgtcctCggtgagctgctgcttccagg	11	15	0	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:35873637C>G	ENST00000216797.5	-	1	315	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	NFKBIA_ENST00000557140.1_Missense_Mutation_p.E72Q|NFKBIA_ENST00000557100.1_5'UTR	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	72					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)		TCCCCGTCCTCGGTGAGCTGC	0.741													11	71					0	0	1	0	0	G	35873637	C	G	35873637	3	3	16	1	0	0	0	0	1	0	0	0	10424	893	31	5	763	5	NFKBIA	14	35873637	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	4518374	35873637	71475903	104	1597											
CHGA	1113	broad.mit.edu	37	chr14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-													ggtggcaggcaaagagagaaGaggaggaggaggaggaggag							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)del	p.E236del	CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	236					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)		AAAGAGAgaagaggaggaggagg	0.645													7	219	---	---	---	---						-	93397926	GAG	-	93397924	7	5	16	1	0	1	0	1	0	0	0	0	3360	943	33	0	707	0	CHGA	14	93397924	In_Frame_Del	DEL	GAG	TCGA-HZ-7918-01A-11D-2154-08	57524287	93397924	13951616	105	1598											
TRMT61A	115708	broad.mit.edu	37	chr14	103996579	103996579	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgcacgcagatcctctaCtccacagacatcgccctcat	5	19	2	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:103996579C>T	ENST00000389749.4	+	2	371	c.264C>T	c.(262-264)taC>taT	p.Y88Y		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	88						nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity			skin(1)	1						AGATCCTCTACTCCACAGACA	0.622													91	444					0	0	1	0	0	T	103996579	C	T	103996579	2	4	16	1	0	0	0	0	0	0	0	1	16630	576	20	2		2	TRMT61A	14	103996579	Silent	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	10598655	103996579	3352961	106	1599											
DPP8	54878	broad.mit.edu	37	chr15	65793003	65793003	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccactaccggcttgaaacaGaaatgttccacttccttggt	7	12	0	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr15:65793003G>A	ENST00000341861.5	-	4	2115	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	DPP8_ENST00000358939.4_Silent_p.L163L|DPP8_ENST00000559233.1_Silent_p.L179L|DPP8_ENST00000321118.7_Silent_p.L179L|DPP8_ENST00000339244.5_Silent_p.L179L|DPP8_ENST00000321147.6_Silent_p.L179L|DPP8_ENST00000300141.6_Silent_p.L163L	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	179					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	p.L163V(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCTTGAAACAGAAATGTTCCA	0.403													102	757					0	0	1	0	0	A	65793003	G	A	65793003	2	1	16	1	0	0	0	0	0	0	0	1	4758	933	33	2		2	DPP8	15	65793003	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		65793003	36738389	107	1600											
ADPGK	83440	broad.mit.edu	37	chr15	73045100	73045100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttctttcaagatccagaagAggatgtcactgaccatgccc	9	11	3	4			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr15:73045100A>G	ENST00000311669.8	-	7	1166	c.1073T>C	c.(1072-1074)cTc>cCc	p.L358P	ADPGK_ENST00000456471.2_Missense_Mutation_p.L84P	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	359	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						GATCCAGAAGAGGATGTCACT	0.517													84	390					0	0	1	0	0	G	73045100	A	G	73045100	3	3	16	1	0	0	0	0	1	0	0	0	329	304	11	3	421	3	ADPGK	15	73045100	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	7252097	73045100	29486292	108	1601											
MESDC1	59274	broad.mit.edu	37	chr15	81295381	81295381	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagcgggcccctggtgcagGcagtgagcgccctggtaggc	17	13	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr15:81295381G>T	ENST00000267984.2	+	1	2087	c.769G>T	c.(769-771)Gca>Tca	p.A257S		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	257										endometrium(1)|lung(2)	3						CCTGGTGCAGGCAGTGAGCGC	0.736													4	40					0.00909568	0.00912924	1	1	0	T	81295381	G	T	81295381	3	4	16	1	0	0	0	0	1	0	0	0	9530	1203	42	2	771	2	MESDC1	15	81295381	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	8250281	81295381	21236011	109	1602											
SPG7	6687	broad.mit.edu	37	chr16	89611106	89611106	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggcgtccacgaaccgagctGacattttggacggtgctctg	13	11	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr16:89611106G>A	ENST00000268704.2	+	10	1390	c.1375G>A	c.(1375-1377)Gac>Aac	p.D459N		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	459					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)		GAACCGAGCTGACATTTTGGA	0.602													68	428					0	0	1	0	0	A	89611106	G	A	89611106	3	1	16	1	0	0	0	0	1	0	0	0	15100	1290	45	2	1563	2	SPG7	16	89611106	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		89611106	743647	110	1603											
SPATA2L	124044	broad.mit.edu	37	chr16	89764126	89764126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttcaggttccagcccctcCtccaaggccccatatggtgg	11	15	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr16:89764126C>T	ENST00000289805.5	-	3	959	c.891G>A	c.(889-891)gaG>gaA	p.E297E	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	297										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)		CCAGCCCCTCCTCCAAGGCCC	0.682													15	104					0	0	1	0	0	T	89764126	C	T	89764126	2	4	16	1	0	0	0	0	0	0	0	1	15065	680	24	2		2	SPATA2L	16	89764126	Silent	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	153020	89764126	590627	111	1604											
ITGAE	3682	broad.mit.edu	37	chr17	3661083	3661083	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcctcgaatatgccacCatcggtgagcaccaccatga	11	13	0	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:3661083C>A	ENST00000263087.4	-	9	1035	c.937G>T	c.(937-939)Ggt>Tgt	p.G313C		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	313	VWFA.				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)		AATATGCCACCATCGGTGAGC	0.542													186	981					2.29838e-65	2.56212e-65	1	1	0	A	3661083	C	A	3661083	3	1	16	1	0	0	0	0	1	0	0	0	7929	594	21	2	2694	2	ITGAE	17	3661083	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08		3661083	77534127	112	1605											
DNAH9	1770	broad.mit.edu	37	chr17	11650939	11650939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgggtggcgctggtaccGgcaagtcacaggtgctgagg	19	8	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:11650939G>A	ENST00000262442.3	+	32	6534	c.6466G>A	c.(6466-6468)Ggc>Agc	p.G2156S	DNAH9_ENST00000454412.2_Missense_Mutation_p.G2156S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2156	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)		CGCTGGTACCGGCAAGTCACA	0.572													43	334					0	0	1	0	0	A	11650939	G	A	11650939	3	1	16	1	0	0	0	0	1	0	0	0	4635	1116	39	1	6592	1	DNAH9	17	11650939	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	7989856	11650939	69544271	113	1606											
NOS2	4843	broad.mit.edu	37	chr17	26108128	26108128	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcatctggtagccagcataGcggatgagctgagcattcca	13	10	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:26108128G>T	ENST00000313735.6	-	8	1031	c.798C>A	c.(796-798)cgC>cgA	p.R266R		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	266				R -> H (in Ref. 8; AAC19133).	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)	AGCCAGCATAGCGGATGAGCT	0.612													13	406					1.05317e-09	1.08508e-09	1	1	0	T	26108128	G	T	26108128	2	4	16	1	0	0	0	0	0	0	0	1	10590	958	34	2		2	NOS2	17	26108128	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	14457189	26108128	55087082	114	1607											
TAOK1	57551	broad.mit.edu	37	chr17	27857472	27857472	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcaggatacctgcaaaatCcaaaccagacagtacaaagc	6	11	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:27857472C>T	ENST00000261716.3	+	18	2715	c.2196C>T	c.(2194-2196)atC>atT	p.I732I	TAOK1_ENST00000536202.1_Silent_p.I584I	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	732					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)			CCTGCAAAATCCAAACCAGAC	0.393													27	198					0	0	1	0	0	T	27857472	C	T	27857472	2	4	16	1	0	0	0	0	0	0	0	1	15604	845	30	2		2	TAOK1	17	27857472	Silent	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	1749344	27857472	53337738	115	1608											
RNF135	84282	broad.mit.edu	37	chr17	29325974	29325984	+	Frame_Shift_Del	DEL	GCCAGCTCTCT	GCCAGCTCTCT	-													tgtggaatggaaggggactaGccagctctctgcatggcaca							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:29325974_29325984delGCCAGCTCTCT	ENST00000328381.5	+	5	1937_1947	c.1064_1074delGCCAGCTCTCT	c.(1063-1074)afs	p.SQLS355fs	RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000443677.2_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	355	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				AAGGGGACTAGCCAGCTCTCTGCATGGCACA	0.573													35	308	---	---	---	---						-	29325984	GCCAGCTCTCT	-	29325974	7	5	16	1	0	1	0	1	0	0	0	0	13492	971	34	0	1151	0	RNF135	17	29325974	Frame_Shift_Del	DEL	GCCAGCTCTCT	TCGA-HZ-7918-01A-11D-2154-08	1468502	29325974	51869236	116	1609											
WIPF2	147179	broad.mit.edu	37	chr17	38421174	38421176	+	In_Frame_Del	DEL	CTC	CTC	-													accaagtggccagtctctggCtcctcctcctccgccttacc					rs151273872	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:38421174_38421176delCTC	ENST00000323571.4	+	5	986_988	c.746_748delCTC	c.(745-750)gct>g	p.AP249del	WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_In_Frame_Del_p.AP249del|WIPF2_ENST00000585043.1_In_Frame_Del_p.AP249del|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	249						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						CAGTCTCTGGCTCCTCCTCCTCC	0.596										HNSCC(43;0.11)			7	1163	---	---	---	---						-	38421176	CTC	-	38421174	7	5	16	1	0	1	0	1	0	0	0	0	17428	797	28	0	760	0	WIPF2	17	38421174	In_Frame_Del	DEL	CTC	TCGA-HZ-7918-01A-11D-2154-08	9095200	38421174	42774036	117	1610											
KRT39	390792	broad.mit.edu	37	chr17	39114945	39114945	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctccttggtgatggtgcAaattttaaccagtatccggg	10	8	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:39114945A>G	ENST00000355612.2	-	7	1419	c.1384T>C	c.(1384-1386)Tgc>Cgc	p.C462R	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	462	Tail.					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)				GTGATGGTGCAAATTTTAACC	0.507													16	513					0	0	1	0	0	G	39114945	A	G	39114945	3	3	16	1	0	0	0	0	1	0	0	0	8519	130	5	3	95	3	KRT39	17	39114945	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	693771	39114945	42080265	118	1611											
KLHL11	55175	broad.mit.edu	37	chr17	40010103	40010103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaggttttgaggcataggGtatctctgtgtgccatgcaa	12	7	2	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:40010103G>A	ENST00000319121.3	-	2	2076	c.2016C>T	c.(2014-2016)taC>taT	p.Y672Y		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	672						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)				GAGGCATAGGGTATCTCTGTG	0.527													97	574					0	0	1	0	0	A	40010103	G	A	40010103	2	1	16	1	0	0	0	0	0	0	0	1	8410	1256	44	2		2	KLHL11	17	40010103	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	895158	40010103	41185107	119	1612											
C17orf47	284083	broad.mit.edu	37	chr17	56620313	56620313	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaaggaccgaggaggcaagGgcctaggggtcagttccagt	17	8	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:56620313G>T	ENST00000321691.3	-	1	1416	c.1235C>A	c.(1234-1236)cCc>cAc	p.P412H	RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	412										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGAGGCAAGGGCCTAGGGGT	0.547													58	567					1.19403e-26	1.30959e-26	1	1	0	T	56620313	G	T	56620313	3	4	16	1	0	0	0	0	1	0	0	0	1867	1232	43	2	485	2	C17orf47	17	56620313	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	16610210	56620313	24574897	120	1613											
NACA2	342538	broad.mit.edu	37	chr17	59668536	59668536	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acggtttctgtggcttcgccCggcattttgtgcagggaacg	14	10	1	0	rs112308210		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:59668536C>G	ENST00000521764.1	-	1	27	c.6G>C	c.(4-6)ccG>ccC	p.P2P		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	2					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)					TGGCTTCGCCCGGCATTTTGT	0.577													13	382					0	0	1	0	0	G	59668536	C	G	59668536	2	3	16	1	0	0	0	0	0	0	0	1	10182	639	23	5		5	NACA2	17	59668536	Silent	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	3048223	59668536	21526674	121	1614											
FASN	2194	broad.mit.edu	37	chr17	80049208	80049208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagggcatggcggtggcgGggacagccgcgatgtcgttc	20	9	0	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:80049208G>A	ENST00000306749.2	-	9	1600	c.1382C>T	c.(1381-1383)cCc>cTc	p.P461L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	461	Acyl and malonyl transferases (By similarity).			AVPA -> LSPT (in Ref. 2; AAA73576).	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)	GGCGGTGGCGGGGACAGCCGC	0.701													15	87					0	0	1	0	0	A	80049208	G	A	80049208	3	1	16	1	0	0	0	0	1	0	0	0	5716	1232	43	2	6293	2	FASN	17	80049208	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	20380672	80049208	1146002	122	1615											
SEH1L	81929	broad.mit.edu	37	chr18	12986927	12986929	+	In_Frame_Del	DEL	TCC	TCC	-													tccagttatgcccagctcctTcctcctcctcctcctcctct							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr18:12986927_12986929delTCC	ENST00000399892.2	+	9	1238_1240	c.1137_1139delTCC	c.(1135-1140)ctt>ct	p.LP379del	SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	0					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						CCCAGCTCCTtcctcctcctcct	0.522													7	284	---	---	---	---						-	12986929	TCC	-	12986927	7	5	16	1	0	1	0	1	0	0	0	0	14063	1770	62	0	1188	0	SEH1L	18	12986927	In_Frame_Del	DEL	TCC	TCGA-HZ-7918-01A-11D-2154-08		12986927	65090321	123	1616											
DYM	54808	broad.mit.edu	37	chr18	46783384	46783384	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taaagttcatatttacctgaTgatcctctgggcagcatact	7	9	2	2	rs61758455		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr18:46783384T>A	ENST00000269445.6	-	13	1913	c.1456A>T	c.(1456-1458)Atc>Ttc	p.I486F	DYM_ENST00000442713.2_Missense_Mutation_p.I296F	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	486						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						ATTTACCTGATGATCCTCTGG	0.403													34	181					0	0	1	0	0	A	46783384	T	A	46783384	3	1	16	1	0	0	0	0	1	0	0	0	4866	1464	51	5	573	5	DYM	18	46783384	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08	33796457	46783384	31293864	124	1617											
ZNF556	80032	broad.mit.edu	37	chr19	2877458	2877458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgataaggcacaaaagaGctcactctggacaaaaatta	7	10	2	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:2877458G>A	ENST00000586426.1	+	4	586	c.499G>A	c.(499-501)Gct>Act	p.A167T	ZNF556_ENST00000307635.2_Missense_Mutation_p.A168T			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	168					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)		GCACAAAAGAGCTCACTCTGG	0.438													87	440					0	0	1	0	0	A	2877458	G	A	2877458	3	1	16	1	0	0	0	0	1	0	0	0	18044	971	34	2	516	2	ZNF556	19	2877458	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		2877458	56251525	125	1618											
PRR22	163154	broad.mit.edu	37	chr19	5783339	5783339	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggccggcccagggacctcgcAcagggtaccctcaggctcag	14	16	2	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:5783339A>T	ENST00000419421.2	-	3	1023	c.919T>A	c.(919-921)Tgc>Agc	p.C307S		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	305										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						GGGACCTCGCACAGGGTACCC	0.642													39	290					0	0	1	0	0	T	5783339	A	T	5783339	3	4	16	1	0	0	0	0	1	0	0	0	12645	159	6	5	353	5	PRR22	19	5783339	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	2905881	5783339	53345644	126	1619											
C19orf59	199675	broad.mit.edu	37	chr19	7743463	7743463	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatggtcaggagcaagAttgatagattagagacgaca	11	7	2	4			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:7743463A>G	ENST00000333598.3	+	5	914	c.460A>G	c.(460-462)Att>Gtt	p.I154V	CTD-3214H19.16_ENST00000597959.1_Missense_Mutation_p.D26G|C19orf59_ENST00000597445.1_Missense_Mutation_p.I111V	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN	chromosome 19 open reading frame 59	154						integral to membrane				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						CAGGAGCAAGATTGATAGATT	0.522											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	236					0	0	1	0	0	G	7743463	A	G	7743463	3	3	16	1	0	0	0	0	1	0	0	0	1952	333	12	3	478	3	C19orf59	19	7743463	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	1960124	7743463	51385520	127	1620											
ADAMTS10	81794	broad.mit.edu	37	chr19	8661292	8661292	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacattccgcccaccggggcCaggcctgggaagacggacat	13	15	0	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:8661292C>A	ENST00000270328.4	-	9	1355	c.1089G>T	c.(1087-1089)ctG>ctT	p.L363L	ADAMTS10_ENST00000597188.1_Silent_p.L363L			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	363	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						CCACCGGGGCCAGGCCTGGGA	0.657													15	137					3.45872e-05	3.51034e-05	1	1	0	A	8661292	C	A	8661292	2	1	16	1	0	0	0	0	0	0	0	1	255	581	21	2		2	ADAMTS10	19	8661292	Silent	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	917829	8661292	50467691	128	1621											
WDR83	84292	broad.mit.edu	37	chr19	12786384	12786384	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttccggtgtggtgcagtcGctggcctaccacccaacaga	13	13	0	1	rs142130654	by1000genomes	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:12786384G>A	ENST00000418543.3	+	11	1195	c.846G>A	c.(844-846)tcG>tcA	p.S282S	WDR83_ENST00000242796.4_Silent_p.S282S	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	282					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						TGGTGCAGTCGCTGGCCTACC	0.657											OREG0025272	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	226					0	0	1	0	0	A	12786384	G	A	12786384	2	1	16	1	0	0	0	0	0	0	0	1	17392	1074	38	1		1	WDR83	19	12786384	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	4125092	12786384	46342599	129	1622											
BRD4	23476	broad.mit.edu	37	chr19	15354198	15354198	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gggagcaggggtgtttgggtCaaggctggtgacacggctgg	21	6	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:15354198C>G	ENST00000263377.2	-	14	2903	c.2682G>C	c.(2680-2682)ttG>ttC	p.L894F		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	894					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)			GTGTTTGGGTCAAGGCTGGTG	0.682			T	C15orf55	lethal midline carcinoma of young people								5	65					0	0	1	0	0	G	15354198	C	G	15354198	3	3	16	1	0	0	0	0	1	0	0	0	1506	825	29	5	1434	5	BRD4	19	15354198	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	2567814	15354198	43774785	130	1623											
MYO9B	4650	broad.mit.edu	37	chr19	17311139	17311139	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tttttctgcataaaaccaagGataaaaaatacagcctggag	7	7	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:17311139G>C	ENST00000595618.1	+	25	4428	c.4276G>C	c.(4276-4278)Gat>Cat	p.D1426H	MYO9B_ENST00000594824.1_Missense_Mutation_p.D1426H|MYO9B_ENST00000397274.2_Missense_Mutation_p.D1426H	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1426	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						TAAAACCAAGGATAAAAAATA	0.507													9	105					0	0	1	0	0	C	17311139	G	C	17311139	3	2	16	1	0	0	0	0	1	0	0	0	10133	1174	41	5	4370	5	MYO9B	19	17311139	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	1956941	17311139	41817844	131	1624											
LSM14A	26065	broad.mit.edu	37	chr19	34685499	34685499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaccttactgtttgtgagCcaccaaaaccacagtgttct	7	11	1	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:34685499C>T	ENST00000544216.3	+	2	315	c.238C>T	c.(238-240)Cca>Tca	p.P80S	LSM14A_ENST00000540746.2_Missense_Mutation_p.P80S|LSM14A_ENST00000433627.5_Missense_Mutation_p.P80S	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	80					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)					TGTTTGTGAGCCACCAAAACC	0.438													90	611					0	0	1	0	0	T	34685499	C	T	34685499	3	4	16	1	0	0	0	0	1	0	0	0	9099	739	26	2	244	2	LSM14A	19	34685499	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	17374360	34685499	24443484	132	1625											
MAP3K10	4294	broad.mit.edu	37	chr19	40711993	40711993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagccccgggtccgcaagcGcaagggcaacttcaagcgca	13	14	1	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:40711993G>A	ENST00000253055.3	+	5	1652	c.1364G>A	c.(1363-1365)cGc>cAc	p.R455H		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	455	Arg/Lys-rich (basic).				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						GTCCGCAAGCGCAAGGGCAAC	0.672													31	128					0	0	1	0	0	A	40711993	G	A	40711993	3	1	16	1	0	0	0	0	1	0	0	0	9294	1087	38	1	1382	1	MAP3K10	19	40711993	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	6026494	40711993	18416990	133	1626											
BCAM	4059	broad.mit.edu	37	chr19	45315574	45315574	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcccaggtgggcgacgAgcgagactacgtgtgcgtgg	19	9	0	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:45315574A>C	ENST00000391955.1	+	3	403	c.359A>C	c.(358-360)gAg>gCg	p.E120A	BCAM_ENST00000270233.6_Missense_Mutation_p.E120A			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	120	Ig-like V-type 1.				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)				GTGGGCGACGAGCGAGACTAC	0.682													13	208					0	0	1	0	0	C	45315574	A	C	45315574	3	2	16	1	0	0	0	0	1	0	0	0	1342	304	11	3	369	3	BCAM	19	45315574	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	4603581	45315574	13813409	134	1627											
LHB	3972	broad.mit.edu	37	chr19	49520322	49520322	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaggggccctgtagtcttAcctggagcatctccatcctt	9	15	2	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:49520322A>C	ENST00000221421.2	-	1	15		c.e1+1			NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide						cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		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)	Lutropin alfa(DB00044)|Menotropins(DB00032)	CTGTAGTCTTACCTGGAGCAT	0.602													80	921					0	0	1	0	0	C	49520322	A	C	49520322	5	2	16	1	0	0	0	0	0	0	1	0	8801	405	14	3	420	3	LHB	19	49520322	Splice_Site	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	4204748	49520322	9608661	135	1628											
KLK8	11202	broad.mit.edu	37	chr19	51503919	51503919	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccactgtgggttcaaatgGacacacggcaagttctccgc	12	12	2	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:51503919G>A	ENST00000391806.2	-	3	206	c.126C>T	c.(124-126)gtC>gtT	p.V42V	KLK8_ENST00000593490.1_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000376832.4_Intron|KLK9_ENST00000250366.6_Intron|KLK8_ENST00000600767.1_Intron|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000291726.7_Intron|KLK8_ENST00000347619.4_Intron			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	23	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GGTTCAAATGGACACACGGCA	0.587													38	401					0	0	1	0	0	A	51503919	G	A	51503919	2	1	16	1	0	0	0	0	0	0	0	1	8453	1161	41	2		2	KLK8	19	51503919	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	1983597	51503919	7625064	136	1629											
ZNF615	284370	broad.mit.edu	37	chr19	52497760	52497760	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgttgcttaatgaacTgggacttattaataggtttt	8	5	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:52497760T>C	ENST00000602063.1	-	6	918	c.569A>G	c.(568-570)cAg>cGg	p.Q190R	ZNF615_ENST00000598071.1_Missense_Mutation_p.Q201R|ZNF615_ENST00000391795.3_Missense_Mutation_p.Q195R|ZNF615_ENST00000376716.5_Missense_Mutation_p.Q190R|ZNF615_ENST00000594083.1_Missense_Mutation_p.Q201R			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	190					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)		CTTAATGAACTGGGACTTATT	0.363													119	854					0	0	1	0	0	C	52497760	T	C	52497760	3	2	16	1	0	0	0	0	1	0	0	0	18097	1580	55	3	1630	3	ZNF615	19	52497760	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08	993841	52497760	6631223	137	1630											
EPS8L1	54869	broad.mit.edu	37	chr19	55597500	55597501	+	Frame_Shift_Ins	INS	-	-	A													agggatatgtgccctacaacINSatcctgacaccctaccccgg							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:55597500_55597501insA	ENST00000201647.6	+	16	1646_1647	c.1590_1591insA	c.(1588-1593)aatcctfs	p.NP530fs	EPS8L1_ENST00000245618.5_Frame_Shift_Ins_p.NP403fs|EPS8L1_ENST00000588359.1_Frame_Shift_Ins_p.NP216fs|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000540810.1_Frame_Shift_Ins_p.NP466fs	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	530	SH3.					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)		TGCCCTACAACATCCTGACACC	0.629													22	492	---	---	---	---						A	55597501	-	A	55597500	7	5	16	1	0	1	1	0	0	0	0	0	5223	477	17	0	1700	0	EPS8L1	19	55597500	Frame_Shift_Ins	INS	-	TCGA-HZ-7918-01A-11D-2154-08	3099740	55597500	3531483	138	1631											
NLRP5	126206	broad.mit.edu	37	chr19	56565133	56565133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggggttgctgcgctgtgCgagggactgaagcaaaagaa	18	6	0	2			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:56565133C>T	ENST00000390649.3	+	13	3258	c.3258C>T	c.(3256-3258)tgC>tgT	p.C1086C		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1086						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)		CTGCGCTGTGCGAGGGACTGA	0.622													47	308					0	0	1	0	0	T	56565133	C	T	56565133	2	4	16	1	0	0	0	0	0	0	0	1	10527	776	27	1		1	NLRP5	19	56565133	Silent	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	967633	56565133	2563850	139	1632											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56701318	56701318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgggtgcgctggtgaaCgttcaggttccccttgtggc	17	9	1	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:56701318C>T	ENST00000586855.2	-	5	1679	c.1366G>A	c.(1366-1368)Gtt>Att	p.V456I	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.V456I			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	456					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						CGCTGGTGAACGTTCAGGTTC	0.537													11	248					0	0	1	0	0	T	56701318	C	T	56701318	3	4	16	1	0	0	0	0	1	0	0	0	18279	536	19	1	125	1	ZSCAN5B	19	56701318	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	136185	56701318	2427665	140	1633											
STK4	6789	broad.mit.edu	37	chr20	43703783	43703783	+	Missense_Mutation	SNP	T	T	A													gcagcccatcctggatgccaTagaggctaagaagagacggc							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr20:43703783T>A	ENST00000372806.3	+	11	1525	c.1430T>A	c.(1429-1431)aTa>aAa	p.I477K	STK4_ENST00000372801.1_3'UTR|STK4_ENST00000499879.2_Missense_Mutation_p.I422K	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	477	SARAH.				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)				CTGGATGCCATAGAGGCTAAG	0.572													11	216					0	0	1	0	0	A	43703783	T	A	43703783	3	1	16	1	0	0	0	0	1	0	0	0	15362	1406	49	5	1472	5	STK4	20	43703783	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08		43703783	19321737	141	1634	16	2									
STK4	6789	broad.mit.edu	37	chr20	43703792	43703792	+	Missense_Mutation	SNP	A	A	T													cctggatgccatagaggctaAgaagagacggcaacaaaact							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr20:43703792A>T	ENST00000372806.3	+	11	1534	c.1439A>T	c.(1438-1440)aAg>aTg	p.K480M	STK4_ENST00000372801.1_3'UTR|STK4_ENST00000499879.2_Missense_Mutation_p.K425M	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	480	SARAH.				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)				ATAGAGGCTAAGAAGAGACGG	0.562													10	211					0	0	1	0	0	T	43703792	A	T	43703792	3	4	16	1	0	0	0	0	1	0	0	0	15362	72	3	5	1481	5	STK4	20	43703792	Missense_Mutation	SNP	A	TCGA-HZ-7918-01A-11D-2154-08	9	43703792	19321728	142	1635	16	2									
SLC17A9	63910	broad.mit.edu	37	chr20	61591929	61591929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgagccttcacctacagCatcgtgggcgccggctccca	12	16	1	0	rs144534537	by1000genomes	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr20:61591929C>T	ENST00000370349.3	+	5	657	c.453C>T	c.(451-453)agC>agT	p.S151S	SLC17A9_ENST00000370351.4_Silent_p.S157S|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	157					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						TCACCTACAGCATCGTGGGCG	0.652													17	157					0	0	1	0	0	T	61591929	C	T	61591929	2	4	16	1	0	0	0	0	0	0	0	1	14479	709	25	2		2	SLC17A9	20	61591929	Silent	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	17888137	61591929	1433591	143	1636											
OPRL1	4987	broad.mit.edu	37	chr20	62729444	62729444	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggctgtcaatgtggccatcTgggccctggcctctgttgtc	13	12	3	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr20:62729444T>A	ENST00000349451.3	+	5	935	c.523T>A	c.(523-525)Tgg>Agg	p.W175R	OPRL1_ENST00000355631.4_Missense_Mutation_p.W175R|OPRL1_ENST00000336866.2_Missense_Mutation_p.W175R	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	175					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)					TGTGGCCATCTGGGCCCTGGC	0.627													49	488					0	0	1	0	0	A	62729444	T	A	62729444	3	1	16	1	0	0	0	0	1	0	0	0	10934	1580	55	5	529	5	OPRL1	20	62729444	Missense_Mutation	SNP	T	TCGA-HZ-7918-01A-11D-2154-08	1137515	62729444	296076	144	1637											
LSS	4047	broad.mit.edu	37	chr21	47614458	47614458	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgttatggatctgggactgGgcactctgcaaataacgccg	13	9	2	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr21:47614458G>T	ENST00000397728.3	-	20	2013	c.1935C>A	c.(1933-1935)gcC>gcA	p.A645A	LSS_ENST00000522411.1_Silent_p.A634A|LSS_ENST00000356396.4_Silent_p.A645A|LSS_ENST00000457828.2_Silent_p.A565A	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	645					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)					TCTGGGACTGGGCACTCTGCA	0.632													41	147					4.92203e-23	5.31266e-23	1	1	0	T	47614458	G	T	47614458	2	4	16	1	0	0	0	0	0	0	0	1	9110	1219	43	2		2	LSS	21	47614458	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		47614458	515437	145	1638											
TIMP1	7076	broad.mit.edu	37	chrX	47446054	47446054	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctcgggagccagggctGtgcacctggcagtccctgcg	15	15	0	0			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:47446054G>C	ENST00000218388.4	+	6	758	c.588G>C	c.(586-588)ctG>ctC	p.L196L	SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000377017.1_Silent_p.L132L|SYN1_ENST00000340666.4_Intron	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	196					erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						AGCCAGGGCTGTGCACCTGGC	0.612													12	201					0	0	1	0	0	C	47446054	G	C	47446054	2	2	16	1	0	0	0	0	0	0	0	1	15977	1364	48	5		5	TIMP1	23	47446054	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08		47446054	107824506	146	1639											
GLOD5	392465	broad.mit.edu	37	chrX	48624245	48624245	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttttctttttttagtcatgGagggacagcagtcagacccc	9	9	3	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:48624245G>T	ENST00000303227.6	+	2	110	c.69G>T	c.(67-69)tgG>tgT	p.W23C	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2			glyoxalase domain containing 5											endometrium(1)|lung(2)	3						TTTAGTCATGGAGGGACAGCA	0.473													5	65					1	1	1	1	0	T	48624245	G	T	48624245	3	4	16	1	0	0	0	0	1	0	0	0	6493	1183	41	2	75	2	GLOD5	23	48624245	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	1178191	48624245	106646315	147	1640											
WDR45	11152	broad.mit.edu	37	chrX	48932556	48932556	+	Nonsense_Mutation	SNP	C	C	T													agacatatttgtggaaggtcCcatctacgcagatggctggg							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:48932556C>T	ENST00000473974.1	-	9	879	c.741G>A	c.(739-741)tgG>tgA	p.W247*	WDR45_ENST00000356463.3_Missense_Mutation_p.G331E|WDR45_ENST00000396681.4_Missense_Mutation_p.G316E|WDR45_ENST00000376358.3_Intron|WDR45_ENST00000376368.2_Missense_Mutation_p.G331E|WDR45_ENST00000376372.3_Missense_Mutation_p.G330E|WDR45_ENST00000322995.8_Missense_Mutation_p.G341E|WDR45_ENST00000485908.1_Missense_Mutation_p.G295E|WDR45_ENST00000470270.1_Intron|WDR45_ENST00000553851.1_Intron			Q9Y484	WIPI4_HUMAN	WD repeat domain 45	247					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GTGGAAGGTCCCATCTACGCA	0.537													20	291					0	0	1	0	0	T	48932556	C	T	48932556	4	4	16	1	0	0	0	0	0	1	0	0	17357	623	22	2	97	2	WDR45	23	48932556	Nonsense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	308311	48932556	106338004	148	1641	17	2									
WDR45	11152	broad.mit.edu	37	chrX	48932560	48932560	+	Missense_Mutation	SNP	C	C	G													atatttgtggaaggtcccatCtacgcagatggctgggggag							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:48932560C>G	ENST00000356463.3	-	12	1426	c.988G>C	c.(988-990)Gat>Cat	p.D330H	WDR45_ENST00000396681.4_Missense_Mutation_p.D315H|WDR45_ENST00000376358.3_Intron|WDR45_ENST00000376368.2_Missense_Mutation_p.D330H|WDR45_ENST00000376372.3_Missense_Mutation_p.D329H|WDR45_ENST00000322995.8_Missense_Mutation_p.D340H|WDR45_ENST00000485908.1_Missense_Mutation_p.D294H|WDR45_ENST00000473974.1_Missense_Mutation_p.R246T|WDR45_ENST00000470270.1_Intron|WDR45_ENST00000553851.1_Intron	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	329					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						AAGGTCCCATCTACGCAGATG	0.537													18	278					0	0	1	0	0	G	48932560	C	G	48932560	3	3	16	1	0	0	0	0	1	0	0	0	17357	913	32	5	101	5	WDR45	23	48932560	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	4	48932560	106338000	149	1642	17	2									
TRPC5	7224	broad.mit.edu	37	chrX	111090417	111090418	+	Frame_Shift_Ins	INS	-	-	C													atcgatagctctggtttcatINSaatagaagtaaagctggttc							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:111090417_111090418insC	ENST00000262839.2	-	6	2542_2543	c.1624_1625insG	c.(1624-1626)tgafs	p.*542fs		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	542					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						TCTGGTTTCATAATAGAAGTAA	0.441													7	486	---	---	---	---						C	111090418	-	C	111090417	7	5	16	1	0	1	1	0	0	0	0	0	16643	1406	49	0	1320	0	TRPC5	23	111090417	Frame_Shift_Ins	INS	-	TCGA-HZ-7918-01A-11D-2154-08	62157857	111090417	44180143	150	1643											
AGTR2	186	broad.mit.edu	37	chrX	115303595	115303595	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccagcggtcttcacttcgGgcttgtgaacatctctggca	10	12	3	1	rs121917810	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:115303595G>T	ENST00000371906.4	+	3	252	c.62G>T	c.(61-63)gGg>gTg	p.G21V		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	21					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						CTTCACTTCGGGCTTGTGAAC	0.413													34	228					2.42023e-17	2.5715e-17	1	1	0	T	115303595	G	T	115303595	3	4	16	1	0	0	0	0	1	0	0	0	399	1232	43	2	64	2	AGTR2	23	115303595	Missense_Mutation	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	4213178	115303595	39966965	151	1644											
SMARCA1	6594	broad.mit.edu	37	chrX	128624058	128624058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgttgtataacaattgaatCgagtctcagttttatctcag	7	6	2	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:128624058C>T	ENST00000371122.4	-	15	2056	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	SMARCA1_ENST00000371123.1_Missense_Mutation_p.D631N|SMARCA1_ENST00000371121.3_Missense_Mutation_p.D631N	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	643	Helicase C-terminal.				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						ACAATTGAATCGAGTCTCAGT	0.328													26	84					0	0	1	0	0	T	128624058	C	T	128624058	3	4	16	1	0	0	0	0	1	0	0	0	14822	884	31	1	1277	1	SMARCA1	23	128624058	Missense_Mutation	SNP	C	TCGA-HZ-7918-01A-11D-2154-08	13320463	128624058	26646502	152	1645											
OCRL	4952	broad.mit.edu	37	chrX	128696369	128696369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaactcataggttcaactGgtgcgccttgttgggatgat	13	8	2	1			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:128696369G>A	ENST00000371113.4	+	11	1113	c.948G>A	c.(946-948)ctG>ctA	p.L316L	OCRL_ENST00000357121.5_Silent_p.L316L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	316					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						AGGTTCAACTGGTGCGCCTTG	0.403													85	328					0	0	1	0	0	A	128696369	G	A	128696369	2	1	16	1	0	0	0	0	0	0	0	1	10871	1335	47	2		2	OCRL	23	128696369	Silent	SNP	G	TCGA-HZ-7918-01A-11D-2154-08	72311	128696369	26574191	153	1646											
PASD1	139135	broad.mit.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-													aagccgtgtacgttgaacccGctgctgctgctgctgctgct							TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)del	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)		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)					CGTTGAACCCgctgctgctgctg	0.433													8	518	---	---	---	---						-	150817144	GCT	-	150817142	7	5	16	1	0	1	0	1	0	0	0	0	11518	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-HZ-7918-01A-11D-2154-08	22120773	150817142	4453418	154	1647											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-													ggccagaaggagcggcccccGcagcagcagcagcagcagca					rs113832855		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccg>cc	p.PQ37del	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	37					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						AGCGGCCCCCgcagcagcagcag	0.7													8	232	---	---	---	---						-	77334279	GCA	-	77334277	7	5	17	1	0	1	0	1	0	0	0	0	15283	1074	38	0	117	0	ST6GALNAC5	1	77334277	In_Frame_Del	DEL	GCA	TCGA-HZ-7925-01A-11D-2154-08		77334277	171916344	1	1648											
PRCC	5546	broad.mit.edu	37	chr1	156761536	156761536	+	Frame_Shift_Del	DEL	C	C	-													gcacaggacccggccctggtCcccccccaggaaattgcccc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:156761536delC	ENST00000271526.4	+	4	1403	c.1131delC	c.(1129-1131)gtfs	p.V377fs	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Intron	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	377					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	p.Q380fs*12(1)	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)					CGGCCCTGGTCCCCCCCCAGG	0.527			T	TFE3	papillary renal								7	517	---	---	---	---						-	156761536	C	-	156761536	7	5	17	1	0	1	0	1	0	0	0	0	12499	842	30	0	1145	0	PRCC	1	156761536	Frame_Shift_Del	DEL	C	TCGA-HZ-7925-01A-11D-2154-08	79427259	156761536	92489085	2	1649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367210.1_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000332127.4_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													53	520					2.81731e-22	3.12465e-22	1	1	0	T	203798664	G	T	203798664	3	4	17	1	0	0	0	0	1	0	0	0	17619	1020	36	2	398	2	ZC3H11A	1	203798664	Missense_Mutation	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	47037128	203798664	45451957	3	1650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													147	499					0	0	1	0	0	T	211256132	C	T	211256132	3	4	17	1	0	0	0	0	1	0	0	0	8075	768	27	1	2449	1	KCNH1	1	211256132	Missense_Mutation	SNP	C	TCGA-HZ-7925-01A-11D-2154-08	7457468	211256132	37994489	4	1651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			48	393					0	0	1	0	0	C	216498693	T	C	216498693	3	2	17	1	0	0	0	0	1	0	0	0	17096	1493	52	3	14793	3	USH2A	1	216498693	Missense_Mutation	SNP	T	TCGA-HZ-7925-01A-11D-2154-08	5242561	216498693	32751928	5	1652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366633.3_Missense_Mutation_p.A281T|DISC1_ENST00000535983.1_Missense_Mutation_p.A281T|DISC1_ENST00000602281.1_Missense_Mutation_p.A281T|DISC1_ENST00000317586.4_Missense_Mutation_p.A281T|DISC1_ENST00000539444.1_Missense_Mutation_p.A281T|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366637.3_5'UTR|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.A281T|DISC1_ENST00000537876.1_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													31	342					0	0	1	0	0	A	231830345	G	A	231830345	3	1	17	1	0	0	0	0	1	0	0	0	4566	1087	38	1	847	1	DISC1	1	231830345	Missense_Mutation	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	15331652	231830345	17420276	6	1653											
TAF1B	9014	broad.mit.edu	37	chr2	9989570	9989571	+	Frame_Shift_Ins	INS	-	-	A													aagccctcaaccgggggcttINSaaaaaaaaaaacaatactgg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:9989570_9989571insA	ENST00000263663.5	+	3	374_375	c.186_187insA	c.(184-189)ctaaaafs	p.LK62fs	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	62					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	p.K63fs*1(1)		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)					ACCGGGGGCTTAAAAAAAAAAA	0.337													8	44	---	---	---	---						A	9989571	-	A	9989570	7	5	17	1	0	1	1	0	0	0	0	0	15577	1741	61	0	196	0	TAF1B	2	9989570	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08		9989570	233209803	7	1654											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	427					0	0	1	0	0	A	133542683	G	A	133542683	2	1	17	1	0	0	0	0	0	0	0	1	10270	1190	42	2		2	NCKAP5	2	133542683	Silent	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	123553113	133542683	109656690	8	1655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.T3416A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|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													24	191					0	0	1	0	0	C	179621444	T	C	179621444	3	2	17	1	0	0	0	0	1	0	0	0	16797	1696	59	3	100497	3	TTN	2	179621444	Missense_Mutation	SNP	T	TCGA-HZ-7925-01A-11D-2154-08	46078761	179621444	63577929	9	1656											
HIBCH	26275	broad.mit.edu	37	chr2	191161629	191161629	+	Frame_Shift_Del	DEL	T	T	-													gttatgactcccgtgcaaccTtttttttccaatagcacctc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:191161629delT	ENST00000392332.3	-	3	268	c.129delA	c.(127-129)aafs	p.K43fs	HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs			Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	43					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCGTGCAACCTTTTTTTTCCA	0.353													7	292	---	---	---	---						-	191161629	T	-	191161629	7	5	17	1	0	1	0	1	0	0	0	0	7141	1606	56	0	1079	0	HIBCH	2	191161629	Frame_Shift_Del	DEL	T	TCGA-HZ-7925-01A-11D-2154-08	11540185	191161629	52037744	10	1657											
KIAA2018	205717	broad.mit.edu	37	chr3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-													cccgttggaataaacaataaTttttttttgaacctggtcac							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:113380090delT	ENST00000316407.4	-	7	849	c.439delA	c.(439-441)ttfs	p.I148fs	KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	148					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						TAAACAATAATTTTTTTTTGA	0.373													9	452	---	---	---	---						-	113380090	T	-	113380090	7	5	17	1	0	1	0	1	0	0	0	0	8310	1493	52	0	6302	0	KIAA2018	3	113380090	Frame_Shift_Del	DEL	T	TCGA-HZ-7925-01A-11D-2154-08		113380090	84642340	11	1658											
BMP2K	55589	broad.mit.edu	37	chr4	79792161	79792169	+	In_Frame_Del	DEL	CAGCACCAC	CAGCACCAC	-													agcagcagcagcagcagcagCagcaccaccaccaccaccac					rs2114202	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:79792161_79792169delCAGCACCAC	ENST00000335016.5	+	11	1622_1630	c.1456_1464delCAGCACCAC	c.(1456-1464)del	p.QHH486del	BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	486	Gln/His-rich.		Q -> H (in dbSNP:rs2114202).	Missing (in Ref. 2; CAB70863).		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						gcagcagcagcagcaccaccaccaccacc	0.488													11	234	---	---	---	---						-	79792169	CAGCACCAC	-	79792161	7	5	17	1	0	1	0	1	0	0	0	0	1459	711	25	0	1498	0	BMP2K	4	79792161	In_Frame_Del	DEL	CAGCACCAC	TCGA-HZ-7925-01A-11D-2154-08		79792161	111362115	12	1659											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gat>g	p.AD153del	OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						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)					CCATTCACATCAGCAGCAGCAGC	0.34													7	279	---	---	---	---						-	146077125	CAG	-	146077123	7	5	17	1	0	1	0	1	0	0	0	0	11361	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-HZ-7925-01A-11D-2154-08	66284962	146077123	45077153	13	1660											
FHDC1	85462	broad.mit.edu	37	chr4	153896050	153896058	+	In_Frame_Del	DEL	CCCGCCGCT	CCCGCCGCT	-													ctcctaccggcccccgaacaCccgccgctcccgcctctccc					rs61753618	by1000genomes	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:153896050_153896058delCCCGCCGCT	ENST00000511601.1	+	12	1795_1803	c.1607_1615delCCCGCCGCT	c.(1606-1617)acc>a	p.TRRS536del	FHDC1_ENST00000260008.3_In_Frame_Del_p.TRRS536del			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	536					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)					CCCCCGAACACCCGCCGCTCCCGCCTCTC	0.675													7	113	---	---	---	---						-	153896058	CCCGCCGCT	-	153896050	7	5	17	1	0	1	0	1	0	0	0	0	5909	507	18	0	1649	0	FHDC1	4	153896050	In_Frame_Del	DEL	CCCGCCGCT	TCGA-HZ-7925-01A-11D-2154-08	7818927	153896050	37258226	14	1661											
CEP72	55722	broad.mit.edu	37	chr5	640649	640651	+	In_Frame_Del	DEL	AGC	AGC	-													cctgcaaagccgccttgctgAgcagcagcagcagcacgccc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:640649_640651delAGC	ENST00000264935.5	+	9	1559_1561	c.1469_1471delAGC	c.(1468-1473)gag>g	p.EQ490del	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	490					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)			CGCCTTGCTGAGCAGCAGCAGCA	0.621													7	390	---	---	---	---						-	640651	AGC	-	640649	7	5	17	1	0	1	0	1	0	0	0	0	3282	304	11	0	1503	0	CEP72	5	640649	In_Frame_Del	DEL	AGC	TCGA-HZ-7925-01A-11D-2154-08		640649	180274611	15	1662											
NDUFAF2	91942	broad.mit.edu	37	chr5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacccctactgcgggtcccGctgctggcagcgctggaaac	12	15	0	0			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632													6	101					0	0	1	0	0	A	60241050	G	A	60241050	1	1	17	1	0	0	0	0	0	0	0	0	10322	1102	38	1		1	NDUFAF2	5	60241050	Translation_Start_Site	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	59600401	60241050	120674210	16	1663											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	381					0	0	1	0	0	T	115327959	C	T	115327959	2	4	17	1	0	0	0	0	0	0	0	1	831	535	19	1		1	AQPEP	5	115327959	Silent	SNP	C	TCGA-HZ-7925-01A-11D-2154-08	55086909	115327959	65587301	17	1664											
PHF15	0	broad.mit.edu	37	chr5	133914449	133914451	+	In_Frame_Del	DEL	ACC	ACC	-													cgcctgcctgccaagaagaaAccaccaccaccaccaccgca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:133914449_133914451delACC	ENST00000395003.1	+	11	1994_1996	c.1815_1817delACC	c.(1813-1818)aaa>aa	p.KP605del	PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000282605.4_In_Frame_Del_p.KP649del|PHF15_ENST00000361895.2_In_Frame_Del_p.KP606del	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		605	Pro-rich.				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)			CCAAGAAGAAACCACCACCACCA	0.66													7	306	---	---	---	---						-	133914451	ACC	-	133914449	7	5	17	1	0	1	0	1	0	0	0	0	11874	40	2	0	1853	0	PHF15	5	133914449	In_Frame_Del	DEL	ACC	TCGA-HZ-7925-01A-11D-2154-08	18586490	133914449	47000811	18	1665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E526K	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													115	946					0	0	1	0	0	A	140222482	G	A	140222482	3	1	17	1	0	0	0	0	1	0	0	0	11577	1059	37	1	1578	1	PCDHA8	5	140222482	Missense_Mutation	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	6308033	140222482	40692778	19	1666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000517880.1_5'UTR|CPEB4_ENST00000520867.1_Missense_Mutation_p.R377C|CPEB4_ENST00000522336.1_5'UTR|CPEB4_ENST00000334035.5_Missense_Mutation_p.R377C|CPEB4_ENST00000519835.1_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													75	422					0	0	1	0	0	T	173337529	C	T	173337529	3	4	17	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	33115047	173337529	7577731	20	1667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	76					0	0	1	0	0	T	13230385	C	T	13230385	3	4	17	1	0	0	0	0	1	0	0	0	11857	759	27	1	1381	1	PHACTR1	6	13230385	Missense_Mutation	SNP	C	TCGA-HZ-7925-01A-11D-2154-08		13230385	157884682	21	1668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	729					0	0	1	0	0	T	32046935	C	T	32046935	3	4	17	1	0	0	0	0	1	0	0	0	16406	536	19	1	10599	1	TNXB	6	32046935	Missense_Mutation	SNP	C	TCGA-HZ-7925-01A-11D-2154-08	18816550	32046935	139068132	22	1669											
OLIG3	167826	broad.mit.edu	37	chr6	137815210	137815212	+	In_Frame_Del	DEL	TGG	TGG	-													ccgagttgagacggctctccTggtggtggtggtggcggtgg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:137815210_137815212delTGG	ENST00000367734.2	-	1	319_321	c.96_98delCCA	c.(94-99)cag>ca	p.HQ32del		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	32	Poly-His.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Q33K(1)		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)		ACGGCTCTCCtggtggtggtggt	0.596													7	502	---	---	---	---						-	137815212	TGG	-	137815210	7	5	17	1	0	1	0	1	0	0	0	0	10910	1580	55	0	724	0	OLIG3	6	137815210	In_Frame_Del	DEL	TGG	TCGA-HZ-7925-01A-11D-2154-08	105768275	137815210	33299857	23	1670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	633					0	0	1	0	0	T	27148069	C	T	27148069	3	4	17	1	0	0	0	0	1	0	0	0	7334	768	27	1	538	1	HOXA3	7	27148069	Missense_Mutation	SNP	C	TCGA-HZ-7925-01A-11D-2154-08		27148069	131990594	24	1671											
ZAN	7455	broad.mit.edu	37	chr7	100350354	100350355	+	RNA	INS	-	-	A													aaaactcaccatccccacggINSaaaaactcaccatccccacg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:100350354_100350355insA	ENST00000542585.1	+	0	2774_2775				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_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)			CATCCCCACGGAAAAACTCACC	0.505													87	691	---	---	---	---						A	100350355	-	A	100350354	6	5	17	0	1	1	1	0	0	0	0	0	17573	1175	41	0		0	ZAN	7	100350354	RNA	INS	-	TCGA-HZ-7925-01A-11D-2154-08	73202285	100350354	58788309	25	1672											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376864.4_Missense_Mutation_p.R526H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Missense_Mutation_p.R526H|TRPM6_ENST00000361255.3_Missense_Mutation_p.R521H|TRPM6_ENST00000360774.1_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													53	395					0	0	1	0	0	T	77423011	C	T	77423011	3	4	17	1	0	0	0	0	1	0	0	0	16651	768	27	1	4595	1	TRPM6	9	77423011	Missense_Mutation	SNP	C	TCGA-HZ-7925-01A-11D-2154-08		77423011	63790420	26	1673											
NR4A3	0	broad.mit.edu	37	chr9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-													cgcccagctaccatcaccatCaccaccaccaccaccaccac							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:102590616_102590618delCAC	ENST00000330847.1	+	2	369_371	c.325_327delCAC	c.(325-327)del	p.H119del	NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del|NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108					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)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma								10	335	---	---	---	---						-	102590618	CAC	-	102590616	7	5	17	1	0	1	0	1	0	0	0	0	10682	826	29	0	331	0	NR4A3	9	102590616	In_Frame_Del	DEL	CAC	TCGA-HZ-7925-01A-11D-2154-08	25167605	102590616	38622815	27	1674											
RTKN2	219790	broad.mit.edu	37	chr10	63958148	63958149	+	Frame_Shift_Ins	INS	-	-	T													ctgcccatttgtctcttcaaINStttttttttgtattatatcc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:63958148_63958149insT	ENST00000373789.3	-	12	1444_1445	c.1348_1349insA	c.(1348-1350)tgafs	p.*450fs	RTKN2_ENST00000395265.1_Frame_Shift_Ins_p.*471fs|RTKN2_ENST00000315289.2_Frame_Shift_Ins_p.*252fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	450					signal transduction	intracellular		p.I450fs*67(1)		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)					TGTCTCTTCAATTTTTTTTTGT	0.337													7	315	---	---	---	---						T	63958149	-	T	63958148	7	5	17	1	0	1	1	0	0	0	0	0	13775	101	4	0	484	0	RTKN2	10	63958148	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08		63958148	71576599	28	1675											
ZMIZ1	57178	broad.mit.edu	37	chr10	81052021	81052023	+	In_Frame_Del	DEL	GCA	GCA	-													ccgctgcagcagcggcagtgGcagcagcagcagccacagct							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:81052021_81052023delGCA	ENST00000334512.5	+	11	1437_1439	c.865_867delGCA	c.(865-867)del	p.A293del	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	293	Ala-rich.				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)			agcggcagtggcagcagcagcag	0.65													9	726	---	---	---	---						-	81052023	GCA	-	81052021	7	5	17	1	0	1	0	1	0	0	0	0	17754	1203	42	0	891	0	ZMIZ1	10	81052021	In_Frame_Del	DEL	GCA	TCGA-HZ-7925-01A-11D-2154-08	17093873	81052021	54482726	29	1676											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_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													22	453					0	0	1	0	0	G	4843497	T	G	4843497	3	3	17	1	0	0	0	0	1	0	0	0	11145	1780	62	3	884	3	OR51F2	11	4843497	Missense_Mutation	SNP	T	TCGA-HZ-7925-01A-11D-2154-08		4843497	130163019	30	1677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	539					0	0	1	0	0	A	89891358	G	A	89891358	3	1	17	1	0	0	0	0	1	0	0	0	10176	1058	37	1	868	1	NAALAD2	11	89891358	Missense_Mutation	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	85047861	89891358	45115158	31	1678											
CRYAB	1410	broad.mit.edu	37	chr11	111780950	111780950	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatcccgactgttatggcttGggactggaatgtagccagcc	13	10	0	0			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:111780950G>T	ENST00000533971.1	-	2	516	c.425C>A	c.(424-426)cCa>cAa	p.P142Q	CRYAB_ENST00000531198.1_Intron|CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000533280.1_Intron|CRYAB_ENST00000525823.1_Intron|CRYAB_ENST00000527950.1_Intron			P02511	CRYAB_HUMAN	crystallin, alpha B	0					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		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)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GTTATGGCTTGGGACTGGAAT	0.418													15	90					2.94398e-08	2.99305e-08	1	1	0	T	111780950	G	T	111780950	3	4	17	1	0	0	0	0	1	0	0	0	3929	1363	47	2		2	CRYAB	11	111780950	Missense_Mutation	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	21889592	111780950	23225566	32	1679											
PVRL1	5818	broad.mit.edu	37	chr11	119535678	119535680	+	In_Frame_Del	DEL	CCT	CCT	-													gcgctcgccccctccaccgcCctcctcctcctcctcctcct							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:119535678_119535680delCCT	ENST00000264025.3	-	6	1861_1863	c.1331_1333delAGG	c.(1330-1335)ggc>g	p.EG444del	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	444	Poly-Glu.				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.E444fs*>73(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)		CCTCCACCGCcctcctcctcctc	0.66													8	218	---	---	---	---						-	119535680	CCT	-	119535678	7	5	17	1	0	1	0	1	0	0	0	0	12891	623	22	0	610	0	PVRL1	11	119535678	In_Frame_Del	DEL	CCT	TCGA-HZ-7925-01A-11D-2154-08	7754728	119535678	15470838	33	1680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)			14	113					2.98522e-18	3.25175e-18	1	1	0	A	25398284	C	A	25398284	3	1	17	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-7925-01A-11D-2154-08		25398284	108453611	34	1681											
SLC39A5	283375	broad.mit.edu	37	chr12	56628997	56628999	+	In_Frame_Del	DEL	CTG	CTG	-													gcctcccttctcccctatccCtgctgctgctgcggctcctg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:56628997_56628999delCTG	ENST00000266980.4	+	5	984_986	c.691_693delCTG	c.(691-693)del	p.L234del	SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	234					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCCCTATCCCTGCTGCTGCTGC	0.635													8	1243	---	---	---	---						-	56628999	CTG	-	56628997	7	5	17	1	0	1	0	1	0	0	0	0	14676	680	24	0	705	0	SLC39A5	12	56628997	In_Frame_Del	DEL	CTG	TCGA-HZ-7925-01A-11D-2154-08	31230713	56628997	77222898	35	1682											
ATXN2	6311	broad.mit.edu	37	chr12	112036754	112036756	+	In_Frame_Del	DEL	GCT	GCT	-													attggcagccgcgggcggcgGctgctgctgctgctgctgct					rs10560189		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:112036754_112036756delGCT	ENST00000377617.3	-	1	724_726	c.563_565delAGC	c.(562-567)ccg>c	p.QP188del	ATXN2_ENST00000535949.1_Intron|ATXN2_ENST00000542287.2_Intron|ATXN2_ENST00000549455.1_5'UTR|ATXN2_ENST00000550104.1_In_Frame_Del_p.QP188del	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	188				Missing (in Ref. 1; AAB19200 and 5; CAA69589).	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						GCGGGCGGCGgctgctgctgctg	0.709													9	3	---	---	---	---						-	112036756	GCT	-	112036754	7	5	17	1	0	1	0	1	0	0	0	0	1209	1203	42	0	3476	0	ATXN2	12	112036754	In_Frame_Del	DEL	GCT	TCGA-HZ-7925-01A-11D-2154-08	55407757	112036754	21815141	36	1683											
ZMYM5	9205	broad.mit.edu	37	chr13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-													tatagattcaataaacacaaCatcatcatcatcatcatcat							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gtt>g	p.DV59del	ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					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)		ATAAACACAAcatcatcatcatc	0.379													8	384	---	---	---	---						-	20426145	CAT	-	20426143	7	5	17	1	0	1	0	1	0	0	0	0	17761	478	17	0	1966	0	ZMYM5	13	20426143	In_Frame_Del	DEL	CAT	TCGA-HZ-7925-01A-11D-2154-08		20426143	94743735	37	1684											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	361					0	0	1	0	0	T	25043947	C	T	25043947	2	4	17	1	0	0	0	0	0	0	0	1	4059	755	27	1		1	CTSG	14	25043947	Silent	SNP	C	TCGA-HZ-7925-01A-11D-2154-08		25043947	82305593	38	1685											
BEGAIN	57596	broad.mit.edu	37	chr14	101005271	101005273	+	In_Frame_Del	DEL	CCT	CCT	-													cgggaaggccgccgcctcggCctcctcctcctcctcggccg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:101005271_101005273delCCT	ENST00000556751.1	-	5	4027_4029	c.623_625delAGG	c.(622-627)gcc>g	p.EA210del	BEGAIN_ENST00000443071.2_In_Frame_Del_p.EA274del|BEGAIN_ENST00000355173.2_In_Frame_Del_p.EA274del			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	274						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCCGCCTCGGCCTCCTCCTCCTC	0.724													8	140	---	---	---	---						-	101005273	CCT	-	101005271	7	5	17	1	0	1	0	1	0	0	0	0	1395	739	26	0	968	0	BEGAIN	14	101005271	In_Frame_Del	DEL	CCT	TCGA-HZ-7925-01A-11D-2154-08	75961324	101005271	6344269	39	1686											
SRP14	6727	broad.mit.edu	37	chr15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-													gctgttgctgctgcggcaggTgctgctgctgctgctgctgc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)del	p.A116del	SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-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;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478													10	387	---	---	---	---						-	40328599	TGC	-	40328597	7	5	17	1	0	1	0	1	0	0	0	0	15209	1683	59	0	66	0	SRP14	15	40328597	In_Frame_Del	DEL	TGC	TCGA-HZ-7925-01A-11D-2154-08		40328597	62202795	40	1687											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	218					0	0	1	0	0	A	62993388	G	A	62993388	2	1	17	1	0	0	0	0	0	0	0	1	16008	1103	39	1		1	TLN2	15	62993388	Silent	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	22664791	62993388	39538004	41	1688											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394745.3_5'UTR|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.S733S	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													51	428					0	0	1	0	0	T	79296394	C	T	79296394	2	4	17	1	0	0	0	0	0	0	0	1	13124	523	19	1		1	RASGRF1	15	79296394	Silent	SNP	C	TCGA-HZ-7925-01A-11D-2154-08	16303006	79296394	23234998	42	1689											
PDILT	204474	broad.mit.edu	37	chr16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-													tggaggtccctttggcttagCcaccaccaccaccacctcct							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gct>g	p.VA565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					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						TTTGGCTTAGCCACCACCACCAC	0.478													8	1315	---	---	---	---						-	20370702	CCA	-	20370700	7	5	17	1	0	1	0	1	0	0	0	0	11721	739	26	0	62	0	PDILT	16	20370700	In_Frame_Del	DEL	CCA	TCGA-HZ-7925-01A-11D-2154-08		20370700	69984053	43	1690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000564817.1_Intron|CENPT_ENST00000219172.3_Silent_p.P355P|CENPT_ENST00000440851.2_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													156	1058					0	0	1	0	0	C	67863789	G	C	67863789	2	2	17	1	0	0	0	0	0	0	0	1	3264	1335	47	5		5	CENPT	16	67863789	Silent	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	47493089	67863789	22490964	44	1691											
CTRL	1506	broad.mit.edu	37	chr16	67963919	67963919	+	Frame_Shift_Del	DEL	T	T	-													caggtgcgcgcacattgcagTttttggtgccccaggagaca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:67963919delT	ENST00000574481.1	-	7	1274	c.713delA	c.(712-714)acfs	p.N238fs		NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	238	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CACATTGCAGTTTTTGGTGCC	0.552													8	695	---	---	---	---						-	67963919	T	-	67963919	7	5	17	1	0	1	0	1	0	0	0	0	4052	1725	60	0	85	0	CTRL	16	67963919	Frame_Shift_Del	DEL	T	TCGA-HZ-7925-01A-11D-2154-08	100130	67963919	22390834	45	1692											
ZFHX3	463	broad.mit.edu	37	chr16	72991716	72991718	+	In_Frame_Del	DEL	CCG	CCG	-													tgccgccgccgccgcagccaCcgccgccgccgccgccccgg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:72991716_72991718delCCG	ENST00000268489.5	-	2	2999_3001	c.2327_2329delCGG	c.(2326-2331)gtg>g	p.AV776del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	776	Poly-Ala.				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)				gccgcagccaccgccgccgccgc	0.635													7	724	---	---	---	---						-	72991718	CCG	-	72991716	7	5	17	1	0	1	0	1	0	0	0	0	17692	507	18	0	8818	0	ZFHX3	16	72991716	In_Frame_Del	DEL	CCG	TCGA-HZ-7925-01A-11D-2154-08	5027797	72991716	17363037	46	1693											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000269305.4_Nonsense_Mutation_p.C135*|TP53_ENST00000359597.4_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)			23	173					3.28513e-13	3.45505e-13	1	1	0	T	7578525	G	T	7578525	4	4	17	1	0	0	0	0	0	1	0	0	16442	1195	42	2	893	2	TP53	17	7578525	Nonsense_Mutation	SNP	G	TCGA-HZ-7925-01A-11D-2154-08		7578525	73616685	47	1694											
SMCR7	0	broad.mit.edu	37	chr17	18167778	18167780	+	In_Frame_Del	DEL	GCT	GCT	-													gacgctgggactcgccggcgGctgctgctgctgctgtgtgc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:18167778_18167780delGCT	ENST00000323019.4	+	4	1276_1278	c.1065_1067delGCT	c.(1063-1068)cgg>cg	p.RL355del	SMCR7_ENST00000395704.4_3'UTR|SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN		355						integral to membrane	protein binding	p.L356R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					CTCGCCGGCGGCTGCTGCTGCTG	0.685													8	401	---	---	---	---						-	18167780	GCT	-	18167778	7	5	17	1	0	1	0	1	0	0	0	0	14844	1190	42	0	1112	0	SMCR7	17	18167778	In_Frame_Del	DEL	GCT	TCGA-HZ-7925-01A-11D-2154-08	10589253	18167778	63027432	48	1695											
TOB1	10140	broad.mit.edu	37	chr17	48940610	48940612	+	In_Frame_Del	DEL	GTG	GTG	-													tttctgctgttgttgctgctGtggtggtggtggtggcggtg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:48940610_48940612delGTG	ENST00000499247.2	-	2	1200_1202	c.767_769delCAC	c.(766-771)cag>c	p.PQ256del	TOB1_ENST00000268957.3_In_Frame_Del_p.PQ256del	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	256	Poly-Pro.				negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			tgttgctgctgtggtggtggtgg	0.517													11	265	---	---	---	---						-	48940612	GTG	-	48940610	7	5	17	1	0	1	0	1	0	0	0	0	16407	1386	48	0	272	0	TOB1	17	48940610	In_Frame_Del	DEL	GTG	TCGA-HZ-7925-01A-11D-2154-08	30772832	48940610	32254600	49	1696											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	43					0	0	1	0	0	A	56356676	G	A	56356676	2	1	17	1	0	0	0	0	0	0	0	1	9781	1136	40	1		1	MPO	17	56356676	Silent	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	7416066	56356676	24838534	50	1697											
SMAD4	4089	broad.mit.edu	37	chr18	48584825	48584826	+	Splice_Site	INS	-	-	TG													cgccccatcccggacattacINStgtaagctcttgtttttgtt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:48584825_48584826insTG	ENST00000342988.3	+	7	1441_1442	c.904_splice	c.e7+1	p.*A301_splice	SMAD4_ENST00000398417.2_Splice_Site_p.*A301_splice|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	301	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.W302R(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)		CCGGACATTACTGTAAGCTCTT	0.411													52	361	---	---	---	---						TG	48584826	-	TG	48584825	8	5	17	1	0	1	1	0	0	0	1	0	14814	579	20	0	925	0	SMAD4	18	48584825	Splice_Site	INS	-	TCGA-HZ-7925-01A-11D-2154-08		48584825	29492423	51	1698											
TNFSF9	8744	broad.mit.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-													ccttgggccctggtcgcgggGctgctgctgctgctgctgct							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)ggg>gg	p.GL34del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	34					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						TGGTCGCGGGgctgctgctgctg	0.768													9	379	---	---	---	---						-	6531151	GCT	-	6531149	7	5	17	1	0	1	0	1	0	0	0	0	16372	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-HZ-7925-01A-11D-2154-08		6531149	52597834	52	1699											
CIC	23152	broad.mit.edu	37	chr19	42795823	42795824	+	Frame_Shift_Ins	INS	-	-	C													gtcagtgcggggtggaggggINSccggccagccactgccactg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:42795823_42795824insC	ENST00000572681.2	+	12	5607_5608	c.5539_5540insC	c.(5539-5541)cggfs	p.R1847fs	CIC_ENST00000160740.3_Frame_Shift_Ins_p.R938fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.R938fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	938					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)				GGGTGGAGGGGCCGGCCAGCCA	0.693			"Mis, F, S"		oligodendroglioma								11	714	---	---	---	---						C	42795824	-	C	42795823	7	5	17	1	0	1	1	0	0	0	0	0	3446	1203	42	0	2854	0	CIC	19	42795823	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	36264674	42795823	16333160	53	1700											
NAPSA	9476	broad.mit.edu	37	chr19	50868836	50868838	+	In_Frame_Del	DEL	GCA	GCA	-													aggctccacattcagcagagGcagcagcagcagcaggggtt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:50868836_50868838delGCA	ENST00000253719.2	-	1	249_251	c.41_43delTGC	c.(40-45)cct>c	p.LP14del	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	14					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)		TTcagcagaggcagcagcagcag	0.596													8	198	---	---	---	---						-	50868838	GCA	-	50868836	7	5	17	1	0	1	0	1	0	0	0	0	10214	1203	42	0	1255	0	NAPSA	19	50868836	In_Frame_Del	DEL	GCA	TCGA-HZ-7925-01A-11D-2154-08	8073013	50868836	8260147	54	1701											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600079.1_Silent_p.L274L|SYT3_ENST00000544769.1_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													81	554					0	0	1	0	0	A	51133283	G	A	51133283	2	1	17	1	0	0	0	0	0	0	0	1	15532	962	34	2		2	SYT3	19	51133283	Silent	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	264447	51133283	7995700	55	1702											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-													cctttctgctccttcctccaTcctcctcctcctcctccagc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gat>ga	p.ED67del	TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.					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)					CCTTCCTCCATCCTCCTCCTCCT	0.645													8	528	---	---	---	---						-	54675749	TCC	-	54675747	7	5	17	1	0	1	0	1	0	0	0	0	16047	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-HZ-7925-01A-11D-2154-08	3542464	54675747	4453236	56	1703											
APP	351	broad.mit.edu	37	chr21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-													ccacctcttccacagactctGtggtggtggtggtggtggtg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr21:27394182_27394184delGTG	ENST00000358918.3	-	6	1036_1038	c.837_839delCAC	c.(835-840)aca>ac	p.TT279del	APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000474136.1_5'UTR|APP_ENST00000359726.3_In_Frame_Del_p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				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)				CACAGACTCTgtggtggtggtgg	0.522													7	208	---	---	---	---						-	27394184	GTG	-	27394182	7	5	17	1	0	1	0	1	0	0	0	0	812	1377	48	0	1525	0	APP	21	27394182	In_Frame_Del	DEL	GTG	TCGA-HZ-7925-01A-11D-2154-08		27394182	20735713	57	1704											
ADAMTS5	11096	broad.mit.edu	37	chr21	28296615	28296615	+	Frame_Shift_Del	DEL	A	A	-													ggagtggacttcttgggaacAaaaaagctataacggacatc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr21:28296615delA	ENST00000284987.5	-	8	2671	c.2550delT	c.(2548-2550)ttfs	p.F850fs	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	850	Spacer.				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						TCTTGGGAACAAAAAAGCTAT	0.478													9	747	---	---	---	---						-	28296615	A	-	28296615	7	5	17	1	0	1	0	1	0	0	0	0	268	127	5	0	246	0	ADAMTS5	21	28296615	Frame_Shift_Del	DEL	A	TCGA-HZ-7925-01A-11D-2154-08	902433	28296615	19833280	58	1705											
GNL3L	54552	broad.mit.edu	37	chrX	54578339	54578341	+	In_Frame_Del	DEL	GAA	GAA	-													gcagtggcccaccgtttgggGaagaagaagaagggaggctt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:54578339_54578341delGAA	ENST00000336470.4	+	12	1252_1254	c.1113_1115delGAA	c.(1111-1116)ggg>gg	p.GK371del	GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	371					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCGTTTGGGGAAGAAGAAGAAG	0.557													7	277	---	---	---	---						-	54578341	GAA	-	54578339	7	5	17	1	0	1	0	1	0	0	0	0	6580	1161	41	0	1155	0	GNL3L	23	54578339	In_Frame_Del	DEL	GAA	TCGA-HZ-7925-01A-11D-2154-08		54578339	100692221	59	1706											
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-													ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gac>ga	p.ED221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				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)					CTCAATGTCGtcctcctcctcct	0.424													9	150	---	---	---	---						-	72433666	TCC	-	72433664	7	5	17	1	0	1	0	1	0	0	0	0	10205	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-HZ-7925-01A-11D-2154-08	17855325	72433664	82836896	60	1707											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361981.3_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000370057.3_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000370055.1_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000361699.4_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000538883.1_Nonsense_Mutation_p.Q293*|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													199	598					0	0	1	0	0	A	153135631	G	A	153135631	4	1	17	1	0	0	0	0	0	1	0	0	8627	1357	47	2	2986	2	L1CAM	23	153135631	Nonsense_Mutation	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	80701967	153135631	2134929	61	1708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377493.5_Missense_Mutation_p.A84T|PARK7_ENST00000377488.1_Missense_Mutation_p.A104T|PARK7_ENST00000377491.1_Missense_Mutation_p.A104T|PARK7_ENST00000497113.1_3'UTR|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													5	411					0	0	1	0	0	A	8031011	G	A	8031011	3	1	18	1	0	0	0	0	1	0	0	0	11497	1087	38	1	324	1	PARK7	1	8031011	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		8031011	241219610	1	1709											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	441					0	0	1	0	0	A	11008867	G	A	11008867	3	1	18	1	0	0	0	0	1	0	0	0	2007	1116	39	1	1150	1	C1orf127	1	11008867	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	2977856	11008867	238241754	2	1710											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	219					0	0	1	0	0	C	27269375	T	C	27269375	3	2	18	1	0	0	0	0	1	0	0	0	10769	1783	62	3	582	3	NUDC	1	27269375	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	16260508	27269375	221981246	3	1711											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:28240575G>A	ENST00000373912.3	-	2	415	c.117_splice	c.e2+1	p.S39_splice	RPA2_ENST00000373909.3_Splice_Site_p.S47_splice|RPA2_ENST00000313433.7_Splice_Site_p.S127_splice	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)					5	222					0	0	1	0	0	A	28240575	G	A	28240575	5	1	18	1	0	0	0	0	0	0	1	0	13589	1304	45	2	728	2	RPA2	1	28240575	Splice_Site	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	971200	28240575	221010046	4	1712											
IQCC	55721	broad.mit.edu	37	chr1	32673443	32673443	+	Frame_Shift_Del	DEL	G	G	-													atcatctgggatggtaccttGggggggccagagcatagtgt							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:32673443delG	ENST00000537469.1	+	5	1448	c.1401delG	c.(1399-1401)ttfs	p.L467fs	IQCC_ENST00000291358.6_Frame_Shift_Del_p.L387fs	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ATGGTACCTTGGGGGGGCCAG	0.552													9	982	---	---	---	---						-	32673443	G	-	32673443	7	5	18	1	0	1	0	1	0	0	0	0	7848	1339	47	0	1419	0	IQCC	1	32673443	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	4432868	32673443	216577178	5	1713											
MAP7D1	55700	broad.mit.edu	37	chr1	36636625	36636626	+	Frame_Shift_Ins	INS	-	-	C													ttctccagaaggtgacccttINScccccccaccaccaccaatg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:36636625_36636626insC	ENST00000316156.4	+	2	553_554	c.100_101insC	c.(100-102)cccfs	p.P34fs	MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P34fs|MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.P34fs			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	34	Pro-rich.					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)				AGGTGACCCTTCCCCCCCACCA	0.594													8	685	---	---	---	---						C	36636626	-	C	36636625	7	5	18	1	0	1	1	0	0	0	0	0	9317	1783	62	0	106	0	MAP7D1	1	36636625	Frame_Shift_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08	3963182	36636625	212613996	6	1714											
PTPRF	5792	broad.mit.edu	37	chr1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-													gagcaaggcggagaggagcaGcggcggcggcggcggcaggc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cag>ca	p.QR1173del	PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1173					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)				GAGAGGAGCAGCGGCGGCGGCGG	0.631													12	888	---	---	---	---						-	44071948	GCG	-	44071946	7	5	18	1	0	1	0	1	0	0	0	0	12853	962	34	0	3589	0	PTPRF	1	44071946	In_Frame_Del	DEL	GCG	TCGA-HZ-8637-01A-11D-2396-08	7435321	44071946	205178675	7	1715											
SLC6A9	6536	broad.mit.edu	37	chr1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-													accagcatccctttggcaccTtttcctaccatggcggcggt							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aafs	p.K4fs	SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000537678.1_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335						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)	CTTTGGCACCTTTTCCTACCA	0.627													7	2153	---	---	---	---						-	44489938	T	-	44489938	7	5	18	1	0	1	0	1	0	0	0	0	14746	1606	56	0	2198	0	SLC6A9	1	44489938	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	417992	44489938	204760683	8	1716											
ZNF644	84146	broad.mit.edu	37	chr1	91406039	91406040	+	Frame_Shift_Ins	INS	-	-	T													tacatccatttttcgctttcINStttttttttctagacctatt							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:91406039_91406040insT	ENST00000370440.1	-	3	1088_1089	c.871_872insA	c.(871-873)aaafs	p.K291fs	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.K291fs|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	291					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)		TTTTCGCTTTCTTTTTTTTTCT	0.337													12	344	---	---	---	---						T	91406040	-	T	91406039	7	5	18	1	0	1	1	0	0	0	0	0	18117	913	32	0	3127	0	ZNF644	1	91406039	Frame_Shift_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08	46916101	91406039	157844582	9	1717											
BRDT	676	broad.mit.edu	37	chr1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-													atgtttcccgactgagtgagAgcagcagcagcagcagcagc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:92447228_92447230delAGC	ENST00000370389.2	+	12	2623_2625	c.1699_1701delAGC	c.(1699-1701)del	p.S575del	BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648					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)		ACTGAGTGAGagcagcagcagca	0.419													9	556	---	---	---	---						-	92447230	AGC	-	92447228	7	5	18	1	0	1	0	1	0	0	0	0	1510	304	11	0	1960	0	BRDT	1	92447228	In_Frame_Del	DEL	AGC	TCGA-HZ-8637-01A-11D-2396-08	1041189	92447228	156803393	10	1718											
CLCC1	23155	broad.mit.edu	37	chr1	109477407	109477407	+	Frame_Shift_Del	DEL	T	T	-													cttcagacttgagctgggccTtttccgctgcgggtgaacct					rs150759040	by1000genomes	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:109477407delT	ENST00000369971.2	-	11	1670	c.1541delA	c.(1540-1542)agfs	p.K514fs	CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	514						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)		GAGCTGGGCCTTTTCCGCTGC	0.597													7	871	---	---	---	---						-	109477407	T	-	109477407	7	5	18	1	0	1	0	1	0	0	0	0	3483	1609	56	0	118	0	CLCC1	1	109477407	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	17030179	109477407	139773214	11	1719											
SPAG17	200162	broad.mit.edu	37	chr1	118584455	118584455	+	Frame_Shift_Del	DEL	G	G	-													tatcttaggttctggttggtGgggggactcttctgttactt							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:118584455delG	ENST00000336338.5	-	21	3090	c.3025delC	c.(3025-3027)acfs	p.H1009fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1009						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)		TCTGGTTGGTGGGGGGACTCT	0.373													7	1791	---	---	---	---						-	118584455	G	-	118584455	7	5	18	1	0	1	0	1	0	0	0	0	15035	1348	47	0	3758	0	SPAG17	1	118584455	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	9107048	118584455	130666166	12	1720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542459.1_Missense_Mutation_p.E341V|PBXIP1_ENST00000539880.1_Missense_Mutation_p.E323V	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													16	1839					0	0	1	0	0	A	154918663	T	A	154918663	3	1	18	1	0	0	0	0	1	0	0	0	11543	1783	62	5	716	5	PBXIP1	1	154918663	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	36334208	154918663	94331958	13	1721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000315174.8_Silent_p.K334K|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000361409.2_Silent_p.K918K	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													124	743					0	0	1	0	0	T	156914928	C	T	156914928	2	4	18	1	0	0	0	0	0	0	0	1	893	564	20	2		2	ARHGEF11	1	156914928	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	1996265	156914928	92335693	14	1722											
DHX9	1660	broad.mit.edu	37	chr1	182845333	182845333	+	Frame_Shift_Del	DEL	T	T	-													tgttcctggagctgtgttggTttttttgcctggctggaatc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:182845333delT	ENST00000367549.3	+	17	2074	c.1964delT	c.(1963-1965)gtfs	p.V655fs		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	655	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						GCTGTGTTGGTTTTTTTGCCT	0.378													10	1194	---	---	---	---						-	182845333	T	-	182845333	7	5	18	1	0	1	0	1	0	0	0	0	4544	1725	60	0	2026	0	DHX9	1	182845333	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	25930405	182845333	66405288	15	1723											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_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													21	688					0	0	1	0	0	T	197072159	C	T	197072159	2	4	18	1	0	0	0	0	0	0	0	1	1055	912	32	2		2	ASPM	1	197072159	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	14226826	197072159	52178462	16	1724											
CR1L	1379	broad.mit.edu	37	chr1	207867814	207867814	+	Frame_Shift_Del	DEL	A	A	-													gcaatcttggaagcagagggAaaaaggtgtttgagcttgtg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:207867814delA	ENST00000508064.2	+	5	640	c.580delA	c.(580-582)aafs	p.K195fs	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	195	Sushi 3.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAGCAGAGGGAAAAAGGTGTT	0.507													7	1394	---	---	---	---						-	207867814	A	-	207867814	7	5	18	1	0	1	0	1	0	0	0	0	3864	247	9	0	598	0	CR1L	1	207867814	Frame_Shift_Del	DEL	A	TCGA-HZ-8637-01A-11D-2396-08	10795655	207867814	41382807	17	1725											
TOMM20	9804	broad.mit.edu	37	chr1	235291954	235291954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggtcacttcgtcttttgCggtcgaagtagatgcagtac	13	8	2	1	rs1130507		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:235291954C>T	ENST00000366607.4	-	1	297	c.77G>A	c.(76-78)cGc>cAc	p.R26H		NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)	26					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			TCGTCTTTTGCGGTCGAAGTA	0.597													7	1098					0	0	1	0	0	T	235291954	C	T	235291954	3	4	18	1	0	0	0	0	1	0	0	0	16414	768	27	1	380	1	TOMM20	1	235291954	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	27424140	235291954	13958667	18	1726											
OR2T10	127069	broad.mit.edu	37	chr1	248756363	248756363	+	Frame_Shift_Del	DEL	T	T	-													aggagcaggtggtgaaggccTttttccgaccctcaactgag							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:248756363delT	ENST00000330500.2	-	1	737	c.707delA	c.(706-708)agfs	p.K236fs		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	236					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)			GGTGAAGGCCTTTTTCCGACC	0.478													7	541	---	---	---	---						-	248756363	T	-	248756363	7	5	18	1	0	1	0	1	0	0	0	0	11065	1609	56	0	234	0	OR2T10	1	248756363	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	13464409	248756363	494258	19	1727											
PUM2	23369	broad.mit.edu	37	chr2	20494235	20494235	+	Frame_Shift_Del	DEL	C	C	-													aaataagttggctggatacaCcccccatggaacgccgtaat							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:20494235delC	ENST00000361078.2	-	8	1076	c.1054delG	c.(1054-1056)tgfs	p.V352fs	PUM2_ENST00000403432.1_Frame_Shift_Del_p.V352fs|PUM2_ENST00000536417.1_Frame_Shift_Del_p.V296fs|PUM2_ENST00000319801.5_Frame_Shift_Del_p.V352fs|PUM2_ENST00000338086.5_Frame_Shift_Del_p.V352fs			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	352	Ala-rich.				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)					GCTGGATACACCCCCCATGGA	0.507													7	1254	---	---	---	---						-	20494235	C	-	20494235	7	5	18	1	0	1	0	1	0	0	0	0	12878	507	18	0	2192	0	PUM2	2	20494235	Frame_Shift_Del	DEL	C	TCGA-HZ-8637-01A-11D-2396-08		20494235	222705138	20	1728											
HS1BP3	64342	broad.mit.edu	37	chr2	20840864	20840864	+	Frame_Shift_Del	DEL	G	G	-													acaggaccttcctgggtagtGgggggaggctggctgctgca					rs77941615	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:20840864delG	ENST00000402541.1	-	3	289	c.275delC	c.(274-276)cafs	p.P92fs	HS1BP3_ENST00000406618.3_Frame_Shift_Del_p.P92fs|HS1BP3_ENST00000304031.3_Frame_Shift_Del_p.P92fs			Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	92	PX.				cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGGTAGTGGGGGGAGGCT	0.537													7	1597	---	---	---	---						-	20840864	G	-	20840864	7	5	18	1	0	1	0	1	0	0	0	0	7402	1348	47	0	923	0	HS1BP3	2	20840864	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	346629	20840864	222358509	21	1729											
UGP2	7360	broad.mit.edu	37	chr2	64084969	64084969	+	Frame_Shift_Del	DEL	A	A	-													ttctattttcacagcacaccAaaaaagacctggatggattt							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:64084969delA	ENST00000337130.5	+	3	630	c.154delA	c.(154-156)aafs	p.K53fs	UGP2_ENST00000467648.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000445915.2_Frame_Shift_Del_p.K62fs|UGP2_ENST00000394417.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000487469.1_Intron	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	53					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						ACAGCACACCAAAAAAGACCT	0.358													7	2277	---	---	---	---						-	64084969	A	-	64084969	7	5	18	1	0	1	0	1	0	0	0	0	17003	131	5	0	164	0	UGP2	2	64084969	Frame_Shift_Del	DEL	A	TCGA-HZ-8637-01A-11D-2396-08	43244105	64084969	179114404	22	1730											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L156L|CTNNA2_ENST00000466387.1_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)			13	472					0.00010058	0.000105874	1	1	0	T	80530477	G	T	80530477	2	4	18	1	0	0	0	0	0	0	0	1	9084	929	33	2		2	LRRTM1	2	80530477	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	16445508	80530477	162668896	23	1731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	755					0	0	1	0	0	T	96943638	C	T	96943638	2	4	18	1	0	0	0	0	0	0	0	1	14906	755	27	1		1	SNRNP200	2	96943638	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	16413161	96943638	146255735	24	1732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	657					0	0	1	0	0	A	101898405	G	A	101898405	3	1	18	1	0	0	0	0	1	0	0	0	13502	1174	41	2	135	2	RNF149	2	101898405	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	4954767	101898405	141300968	25	1733											
CCDC74A	90557	broad.mit.edu	37	chr2	132290249	132290249	+	Frame_Shift_Del	DEL	C	C	-													cagatgggggcgggggcacaCcccccaatgatcctgcccct							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:132290249delC	ENST00000295171.6	+	5	909	c.771delC	c.(769-771)cafs	p.H257fs	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Frame_Shift_Del_p.H191fs	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	257										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CGGGGGCACACCCCCCAATGA	0.602													7	1037	---	---	---	---						-	132290249	C	-	132290249	7	5	18	1	0	1	0	1	0	0	0	0	2867	506	18	0	789	0	CCDC74A	2	132290249	Frame_Shift_Del	DEL	C	TCGA-HZ-8637-01A-11D-2396-08	30391844	132290249	110909124	26	1734											
NEB	4703	broad.mit.edu	37	chr2	152466345	152466345	+	Frame_Shift_Del	DEL	T	T	-													cactctgcaggtcataggccTtttttgcttggataatgtcg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:152466345delT	ENST00000427231.2	-	81	12510	c.12308delA	c.(12307-12309)agfs	p.K4103fs	NEB_ENST00000172853.10_Frame_Shift_Del_p.K3860fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.K3860fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.K4103fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.K4103fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.K4103fs	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	4102					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)		GTCATAGGCCTTTTTTGCTTG	0.448													7	1000	---	---	---	---						-	152466345	T	-	152466345	7	5	18	1	0	1	0	1	0	0	0	0	10349	1609	56	0	13786	0	NEB	2	152466345	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	20176096	152466345	90733028	27	1735											
TANK	10010	broad.mit.edu	37	chr2	162088014	162088014	+	Frame_Shift_Del	DEL	T	T	-													ctggacccatctgatgcaccTtttccctcactcgattcccc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:162088014delT	ENST00000392749.2	+	7	1292	c.1053delT	c.(1051-1053)ccfs	p.P351fs	TANK_ENST00000406287.1_Intron|TANK_ENST00000402568.1_Intron|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000259075.2_Frame_Shift_Del_p.P351fs|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000405852.1_Frame_Shift_Del_p.P351fs	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	351						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CTGATGCACCTTTTCCCTCAC	0.438													7	549	---	---	---	---						-	162088014	T	-	162088014	7	5	18	1	0	1	0	1	0	0	0	0	15603	1596	56	0	1108	0	TANK	2	162088014	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	9621669	162088014	81111359	28	1736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000283254.7_Missense_Mutation_p.G880R|SCN3A_ENST00000409101.3_Missense_Mutation_p.G831R	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													7	913					0	0	1	0	0	T	165986734	C	T	165986734	3	4	18	1	0	0	0	0	1	0	0	0	13972	623	22	2	3412	2	SCN3A	2	165986734	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	3898720	165986734	77212639	29	1737											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	245					0	0	1	0	0	T	166514474	C	T	166514474	3	4	18	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	30	1738											
FKBP7	51661	broad.mit.edu	37	chr2	179343217	179343217	+	Frame_Shift_Del	DEL	T	T	-													tctgaataagaaatgcatggTttttggcatcggctccagca							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:179343217delT	ENST00000424785.2	-	1	68	c.10delA	c.(10-12)ccfs	p.T4fs	FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	4					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)			AAATGCATGGTTTTTGGCATC	0.522													11	1859	---	---	---	---						-	179343217	T	-	179343217	7	5	18	1	0	1	0	1	0	0	0	0	5946	1725	60	0	674	0	FKBP7	2	179343217	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	12828743	179343217	63856156	31	1739											
CRYGA	1418	broad.mit.edu	37	chr2	209025577	209025577	+	Frame_Shift_Del	DEL	C	C	-													agccgactttggcatctgcaCccccccagtcgtggtacctt							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:209025577delC	ENST00000304502.4	-	3	495	c.476delG	c.(475-477)gtfs	p.G159fs		NM_014617.3	NP_055432.2			crystallin, gamma A											endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		GGCATCTGCACCCCCCCAGTC	0.532													9	1141	---	---	---	---						-	209025577	C	-	209025577	7	5	18	1	0	1	0	1	0	0	0	0	3937	507	18	0	52	0	CRYGA	2	209025577	Frame_Shift_Del	DEL	C	TCGA-HZ-8637-01A-11D-2396-08	29682360	209025577	34173796	32	1740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	1914					0	0	1	0	0	T	216002880	C	T	216002880	3	4	18	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	6977303	216002880	27196493	33	1741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359671.1_Missense_Mutation_p.Q1615E|FN1_ENST00000356005.4_Missense_Mutation_p.Q1615E|FN1_ENST00000346544.3_Missense_Mutation_p.Q1615E|FN1_ENST00000345488.5_Missense_Mutation_p.Q1615E|FN1_ENST00000336916.4_Missense_Mutation_p.Q1615E|FN1_ENST00000323926.6_Missense_Mutation_p.Q1706E|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000432072.2_Missense_Mutation_p.Q1706E|FN1_ENST00000357867.4_Missense_Mutation_p.Q1615E|FN1_ENST00000446046.1_Missense_Mutation_p.Q1615E|FN1_ENST00000421182.1_Missense_Mutation_p.Q1615E|FN1_ENST00000357009.2_Missense_Mutation_p.Q1615E|FN1_ENST00000443816.1_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													32	323					0	0	1	0	0	C	216246983	G	C	216246983	3	2	18	1	0	0	0	0	1	0	0	0	5995	1299	45	5	2377	5	FN1	2	216246983	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	244103	216246983	26952390	34	1742											
AAMP	14	broad.mit.edu	37	chr2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-													ggaagcttagggtctccagtGggggggtgtcagcagcagcc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:219134766delG	ENST00000248450.4	-	1	214	c.44delC	c.(43-45)cafs	p.P15fs	AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	15					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	p.L16fs*9(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCTCCAGTGGGGGGGTGTC	0.617													8	2830	---	---	---	---						-	219134766	G	-	219134766	7	5	18	1	0	1	0	1	0	0	0	0	17	1348	47	0	1304	0	AAMP	2	219134766	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	2887783	219134766	24064607	35	1743											
IRS1	3667	broad.mit.edu	37	chr2	227660234	227660234	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttaggactgaggttcaccCgggtgaaggcgctcatgccc	15	11	2	2	rs146268112	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:227660234C>A	ENST00000305123.4	-	1	4241	c.3221G>T	c.(3220-3222)cGg>cTg	p.R1074L		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1074					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)		GAGGTTCACCCGGGTGAAGGC	0.642													5	586					0.00198382	0.00202995	1	1	0	A	227660234	C	A	227660234	3	1	18	1	0	0	0	0	1	0	0	0	7884	652	23	4	511	4	IRS1	2	227660234	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	8525468	227660234	15539139	36	1744											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	932					0	0	1	0	0	C	227945177	T	C	227945177	2	2	18	1	0	0	0	0	0	0	0	1	3716	1606	56	3		3	COL4A4	2	227945177	Silent	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	284943	227945177	15254196	37	1745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	876					0	0	1	0	0	A	233273223	G	A	233273223	3	1	18	1	0	0	0	0	1	0	0	0	545	1145	40	1	822	1	ALPPL2	2	233273223	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	5328046	233273223	9926150	38	1746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				7	1056					0	0	1	0	0	T	10115018	C	T	10115018	3	4	18	1	0	0	0	0	1	0	0	0	5698	536	19	1	2793	1	FANCD2	3	10115018	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08		10115018	187907412	39	1747											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428977.2_Missense_Mutation_p.E2099V|TRANK1_ENST00000301807.6_Missense_Mutation_p.E2099V			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													11	123					0	0	1	0	0	A	36872996	T	A	36872996	3	1	18	1	0	0	0	0	1	0	0	0	16515	1551	54	5	843	5	TRANK1	3	36872996	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	26757978	36872996	161149434	40	1748											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	202					0	0	1	0	0	T	51743379	C	T	51743379	3	4	18	1	0	0	0	0	1	0	0	0	6838	768	27	1	382	1	GRM2	3	51743379	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	14870383	51743379	146279051	41	1749											
ITIH4	3700	broad.mit.edu	37	chr3	52847474	52847474	+	Frame_Shift_Del	DEL	G	G	-													agcaggaaatctccactcccGggggcccctcctggtaatcc					rs140372968	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:52847474delG	ENST00000266041.4	-	24	2852	c.2756delC	c.(2755-2757)cgfs	p.P919fs	ITIH4_ENST00000406595.1_Frame_Shift_Del_p.P889fs|ITIH4_ENST00000346281.5_Frame_Shift_Del_p.P903fs|ITIH4_ENST00000485816.1_Frame_Shift_Del_p.P924fs	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	919					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				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)		CTCCACTCCCGGGGGCCCCTC	0.582													8	863	---	---	---	---						-	52847474	G	-	52847474	7	5	18	1	0	1	0	1	0	0	0	0	7950	1116	39	0	40	0	ITIH4	3	52847474	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	1104095	52847474	145174956	42	1750											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000494014.1_Missense_Mutation_p.E471D|EPHA3_ENST00000452448.2_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)			10	1031					0	0	1	0	0	C	89445093	G	C	89445093	3	2	18	1	0	0	0	0	1	0	0	0	5196	991	35	5	1435	5	EPHA3	3	89445093	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	36597619	89445093	108577337	43	1751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	287					0	0	1	0	0	C	108129678	T	C	108129678	3	2	18	1	0	0	0	0	1	0	0	0	10082	1551	54	3	1577	3	MYH15	3	108129678	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	18684585	108129678	89892752	44	1752											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:126736303C>T	ENST00000393409.2	+	17	3312	c.3312C>T	c.(3310-3312)tgC>tgT	p.C1104C	PLXNA1_ENST00000251772.4_Silent_p.C1081C	NM_032242.3	NP_115618.3	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													5	372					0	0	1	0	0	T	126736303	C	T	126736303	2	4	18	1	0	0	0	0	0	0	0	1	12167	747	26	2		2	PLXNA1	3	126736303	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	18606625	126736303	71286127	45	1753											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	344					0	0	1	0	0	A	195022345	G	A	195022345	4	1	18	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	46	1754											
CCKAR	886	broad.mit.edu	37	chr4	26483672	26483674	+	In_Frame_Del	DEL	CTG	CTG	-													tactccggatgcggttggccCtgctgctgctgccggtggac							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr4:26483672_26483674delCTG	ENST00000295589.3	-	5	1067_1069	c.873_875delCAG	c.(871-876)agg>ag	p.SR291del		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	291					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)	GCGGTTGGCCCTGCTGCTGCTGC	0.606													8	811	---	---	---	---						-	26483674	CTG	-	26483672	7	5	18	1	0	1	0	1	0	0	0	0	2900	681	24	0	415	0	CCKAR	4	26483672	In_Frame_Del	DEL	CTG	TCGA-HZ-8637-01A-11D-2396-08		26483672	164670604	47	1755											
N4BP2	55728	broad.mit.edu	37	chr4	40144449	40144449	+	Frame_Shift_Del	DEL	A	A	-													aagaagcttatcggatagggAaaaaaaatgtcgccaccttt							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr4:40144449delA	ENST00000261435.6	+	15	5358	c.4942delA	c.(4942-4944)aafs	p.K1649fs		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1649						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						TCGGATAGGGAAAAAAAATGT	0.398													8	623	---	---	---	---						-	40144449	A	-	40144449	7	5	18	1	0	1	0	1	0	0	0	0	10158	247	9	0	4992	0	N4BP2	4	40144449	Frame_Shift_Del	DEL	A	TCGA-HZ-8637-01A-11D-2396-08	13660777	40144449	151009827	48	1756											
KIAA1211	57482	broad.mit.edu	37	chr4	57182265	57182267	+	In_Frame_Del	DEL	AGA	AGA	-													ctgcgaccaacaggcagaacAgaagaagaagaagaggcaca							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr4:57182265_57182267delAGA	ENST00000504228.1	+	6	2702_2704	c.2597_2599delAGA	c.(2596-2601)cag>c	p.QK866del	KIAA1211_ENST00000541073.1_In_Frame_Del_p.QK859del|KIAA1211_ENST00000264229.6_In_Frame_Del_p.QK866del			Q6ZU35	K1211_HUMAN	KIAA1211	866										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)					CAGGCAGAACAGAAGAAGAAGAA	0.567													7	370	---	---	---	---						-	57182267	AGA	-	57182265	7	5	18	1	0	1	0	1	0	0	0	0	8257	188	7	0	2615	0	KIAA1211	4	57182265	In_Frame_Del	DEL	AGA	TCGA-HZ-8637-01A-11D-2396-08	17037816	57182265	133972011	49	1757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			6	840					0	0	1	0	0	T	187629556	C	T	187629556	3	4	18	1	0	0	0	0	1	0	0	0	5722	536	19	1	12444	1	FAT1	4	187629556	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	130447291	187629556	3524720	50	1758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000505113.1_Missense_Mutation_p.R228H|AHRR_ENST00000512529.1_Missense_Mutation_p.R74H|AHRR_ENST00000506456.1_Missense_Mutation_p.R84H	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													17	492					0	0	1	0	0	A	424055	G	A	424055	3	1	18	1	0	0	0	0	1	0	0	0	414	1145	40	1	709	1	AHRR	5	424055	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		424055	180491205	51	1759											
NKD2	85409	broad.mit.edu	37	chr5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-													agcaccaccaccaccacgagCaccaccaccaccaccaccac					rs3840989		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)del	p.H447del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.AP78del	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			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)			ccaccacgagcaccaccaccacc	0.69													11	24	---	---	---	---						-	1038449	CAC	-	1038447	7	5	18	1	0	1	0	1	0	0	0	0	10489	710	25	0	1353	0	NKD2	5	1038447	In_Frame_Del	DEL	CAC	TCGA-HZ-8637-01A-11D-2396-08	614392	1038447	179876813	52	1760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000513692.1_Missense_Mutation_p.R151C|IRX4_ENST00000231357.2_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													68	421					0	0	1	0	0	A	1879903	G	A	1879903	3	1	18	1	0	0	0	0	1	0	0	0	7890	1087	38	1	1116	1	IRX4	5	1879903	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	841456	1879903	179035357	53	1761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	251					0	0	1	0	0	C	78325780	A	C	78325780	2	2	18	1	0	0	0	0	0	0	0	1	4609	291	11	3		3	DMGDH	5	78325780	Silent	SNP	A	TCGA-HZ-8637-01A-11D-2396-08	76445877	78325780	102589480	54	1762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000514949.1_Missense_Mutation_p.G161E|SNX2_ENST00000510372.1_3'UTR	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													6	208					0	0	1	0	0	A	122152644	G	A	122152644	3	1	18	1	0	0	0	0	1	0	0	0	14945	1174	41	2	867	2	SNX2	5	122152644	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	43826864	122152644	58762616	55	1763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	1332					0	0	1	0	0	T	140559337	C	T	140559337	2	4	18	1	0	0	0	0	0	0	0	1	11595	639	23	1		1	PCDHB8	5	140559337	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	18406693	140559337	40355923	56	1764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	321					0	0	1	0	0	A	145719395	G	A	145719395	2	1	18	1	0	0	0	0	0	0	0	1	12326	1103	39	1		1	POU4F3	5	145719395	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	5160058	145719395	35195865	57	1765											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	6	104					0.000157383	0.000164878	1	1	0	T	145826931	G	T	145826931	3	4	18	1	0	0	0	0	1	0	0	0	15745	1174	41	2	21	2	TCERG1	5	145826931	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	107536	145826931	35088329	58	1766											
PPARGC1B	133522	broad.mit.edu	37	chr5	149216457	149216459	+	In_Frame_Del	DEL	GGA	GGA	-													gaggaggaagaggaagaaggGgaggaggaggaggaggacga							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:149216457_149216459delGGA	ENST00000309241.5	+	8	2471_2473	c.2439_2441delGGA	c.(2437-2442)ggg>gg	p.GE813del	PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	813	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)			aggaagaaggggaggaggaggag	0.606													7	606	---	---	---	---						-	149216459	GGA	-	149216457	7	5	18	1	0	1	0	1	0	0	0	0	12346	1219	43	0	2476	0	PPARGC1B	5	149216457	In_Frame_Del	DEL	GGA	TCGA-HZ-8637-01A-11D-2396-08	3389526	149216457	31698803	59	1767											
GEMIN5	25929	broad.mit.edu	37	chr5	154287370	154287370	+	Frame_Shift_Del	DEL	T	T	-													ttttttctccaattcaatacTttttttgcctacaagaatca							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:154287370delT	ENST00000285873.7	-	16	2251	c.2176delA	c.(2176-2178)gtfs	p.S726fs		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	726					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)			AATTCAATACTTTTTTTGCCT	0.373													7	574	---	---	---	---						-	154287370	T	-	154287370	7	5	18	1	0	1	0	1	0	0	0	0	6373	1609	56	0	2402	0	GEMIN5	5	154287370	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	5070913	154287370	26627890	60	1768											
RANBP9	10048	broad.mit.edu	37	chr6	13632610	13632610	+	Frame_Shift_Del	DEL	T	T	-													aaatatattcaccttcaacaTttttttgtttgcagtgttct							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:13632610delT	ENST00000011619.3	-	12	1997	c.1939delA	c.(1939-1941)tgfs	p.M647fs	RANBP9_ENST00000539980.1_Frame_Shift_Del_p.M418fs|NOL7_ENST00000474485.1_Intron|RANBP9_ENST00000469916.1_5'UTR	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	647	Interaction with FMR1.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ACCTTCAACATTTTTTTGTTT	0.378													9	802	---	---	---	---						-	13632610	T	-	13632610	7	5	18	1	0	1	0	1	0	0	0	0	13084	1493	52	0	262	0	RANBP9	6	13632610	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08		13632610	157482457	61	1769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	1121					0	0	1	0	0	T	27114417	C	T	27114417	3	4	18	1	0	0	0	0	1	0	0	0	7191	739	26	2	223	2	HIST1H2BK	6	27114417	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	13481807	27114417	144000650	62	1770											
DAXX	1616	broad.mit.edu	37	chr6	33287900	33287900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctcctcttcttcttcCtcctcctcctcctcttcctc	1	23	4	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:33287900C>T	ENST00000374542.5	-	5	1557	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	DAXX_ENST00000266000.6_Silent_p.E451E|DAXX_ENST00000414083.2_Silent_p.E376E|DAXX_ENST00000477162.1_5'UTR	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	451	Asp/Glu-rich (acidic).|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	p.E451E(2)		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						cttcttcttcctcctcctcct	0.557			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								8	314					0	0	1	0	0	T	33287900	C	T	33287900	2	4	18	1	0	0	0	0	0	0	0	1	4267	680	24	2		2	DAXX	6	33287900	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	6173483	33287900	137827167	63	1771											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34804004	34804006	+	In_Frame_Del	DEL	CAG	CAG	-													ggcagccagggcaacagcaaCagcagcagcagccgcctcag							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:34804004_34804006delCAG	ENST00000192788.5	+	8	1083_1085	c.912_914delCAG	c.(910-915)aac>aa	p.NS304del	UHRF1BP1_ENST00000452449.2_In_Frame_Del_p.NS304del	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	304										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCAACAGCAACAGCAGCAGCAGC	0.552													7	1552	---	---	---	---						-	34804006	CAG	-	34804004	7	5	18	1	0	1	0	1	0	0	0	0	17028	477	17	0	942	0	UHRF1BP1	6	34804004	In_Frame_Del	DEL	CAG	TCGA-HZ-8637-01A-11D-2396-08	1516104	34804004	136311063	64	1772											
STK38	11329	broad.mit.edu	37	chr6	36475332	36475332	+	Frame_Shift_Del	DEL	T	T	-													taaaattctgtcctatgtgcTtttttcagtcctgtgcaaag							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:36475332delT	ENST00000229812.7	-	8	1002	c.717delA	c.(715-717)aafs	p.K239fs		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	239	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						TCCTATGTGCTTTTTTCAGTC	0.423													9	2084	---	---	---	---						-	36475332	T	-	36475332	7	5	18	1	0	1	0	1	0	0	0	0	15359	1606	56	0	708	0	STK38	6	36475332	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	1671328	36475332	134639735	65	1773											
AARS2	57505	broad.mit.edu	37	chr6	44269188	44269189	+	Frame_Shift_Ins	INS	-	-	T													ccgctccagcagctcctgagINSttttctttgcagcctatggg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:44269188_44269189insT	ENST00000244571.4	-	20	2613_2614	c.2611_2612insA	c.(2611-2613)tcafs	p.S871fs	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	871					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)	CAGCTCCTGAGTTTTCTTTGCA	0.584													9	967	---	---	---	---						T	44269189	-	T	44269188	7	5	18	1	0	1	1	0	0	0	0	0	20	1029	36	0	357	0	AARS2	6	44269188	Frame_Shift_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08	7793856	44269188	126845879	66	1774											
TBX18	9096	broad.mit.edu	37	chr6	85446744	85446744	+	Frame_Shift_Del	DEL	G	G	-													tggcatgatatactggagctGgggggacattcccgaaatct							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:85446744delG	ENST00000369663.5	-	8	1820	c.1483delC	c.(1483-1485)agfs	p.Q495fs	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	495					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)		TACTGGAGCTGGGGGGACATT	0.537													8	1467	---	---	---	---						-	85446744	G	-	85446744	7	5	18	1	0	1	0	1	0	0	0	0	15713	1357	47	0	344	0	TBX18	6	85446744	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	41177556	85446744	85668323	67	1775											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				31	214					0	0	1	0	0	T	144508554	C	T	144508554	3	4	18	1	0	0	0	0	1	0	0	0	15393	759	27	1	792	1	STX11	6	144508554	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	59061810	144508554	26606513	68	1776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341594.5_Missense_Mutation_p.A1700V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1637V|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1630V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1630V|SYNE1_ENST00000423061.1_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)			8	1217					0	0	1	0	0	A	152749427	G	A	152749427	3	1	18	1	0	0	0	0	1	0	0	0	15502	1087	38	1	22017	1	SYNE1	6	152749427	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	8240873	152749427	18365640	69	1777											
TBP	6908	broad.mit.edu	37	chr6	170871047	170871049	+	In_Frame_Del	DEL	CAG	CAG	-													agcagcagcagcaacagcaaCagcagcagcagcagcagcag					rs10592951		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:170871047_170871049delCAG	ENST00000392092.2	+	3	502_504	c.223_225delCAG	c.(223-225)del	p.Q95del	TBP_ENST00000540980.1_In_Frame_Del_p.Q75del|TBP_ENST00000230354.6_In_Frame_Del_p.Q95del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	95	Poly-Gln.		Missing.		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	p.Q75Q(2)		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)		gcaacagcaacagcagcagcagc	0.571													7	386	---	---	---	---						-	170871049	CAG	-	170871047	7	5	18	1	0	1	0	1	0	0	0	0	15704	479	17	0	229	0	TBP	6	170871047	In_Frame_Del	DEL	CAG	TCGA-HZ-8637-01A-11D-2396-08	18121620	170871047	244020	70	1778											
C7orf10	79783	broad.mit.edu	37	chr7	40899967	40899967	+	Frame_Shift_Del	DEL	G	G	-													tcagaggccaggccgcccccGctgctcgggcagcacacaac					rs2010706	by1000genomes	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:40899967delG	ENST00000309930.5	+	15	1329	c.1305delG	c.(1303-1305)ccfs	p.P435fs	C7orf10_ENST00000335693.4_Frame_Shift_Del_p.P409fs|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000401647.2_Frame_Shift_Del_p.P361fs	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	409							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GGCCGCCCCCGCTGCTCGGGC	0.577													9	1247	---	---	---	---						-	40899967	G	-	40899967	7	5	18	1	0	1	0	1	0	0	0	0	2392	1074	38	0	1252	0	C7orf10	7	40899967	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08		40899967	118238696	71	1779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:43351558C>T	ENST00000395891.1	+	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	75					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													48	376					0	0	1	0	0	T	43351558	C	T	43351558	3	4	18	1	0	0	0	0	1	0	0	0	7083	893	31	1	230	1	HECW1	7	43351558	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	2451591	43351558	115787105	72	1780											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)gtg>g	p.EV77del	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_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													15	678	---	---	---	---						-	76828881	CCT	-	76828879	7	5	18	1	0	1	0	1	0	0	0	0	5906	507	18	0	1095	0	FGL2	7	76828879	In_Frame_Del	DEL	CCT	TCGA-HZ-8637-01A-11D-2396-08	33477321	76828879	82309784	73	1781											
CCDC132	55610	broad.mit.edu	37	chr7	92923947	92923948	+	Splice_Site	INS	-	-	G													ggacttacacgaatatggcaINSggtttggtttttttaaaatt					rs140810598	by1000genomes	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:92923947_92923948insG	ENST00000544910.1	+	15	1296_1297	c.1077_splice	c.e15+1	p.R359_splice	CCDC132_ENST00000541136.1_Splice_Site_p.R200_splice|CCDC132_ENST00000535481.1_Splice_Site_p.R109_splice|CCDC132_ENST00000317751.6_Splice_Site_p.R120_splice|CCDC132_ENST00000305866.5_Splice_Site_p.R389_splice	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	389										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)			CGAATATGGCAGGTTTGGtttt	0.272													7	742	---	---	---	---						G	92923948	-	G	92923947	8	5	18	1	0	1	1	0	0	0	1	0	2785	202	7	0	1262	0	CCDC132	7	92923947	Splice_Site	INS	-	TCGA-HZ-8637-01A-11D-2396-08	16095068	92923947	66214716	74	1782											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			27	352					0	0	1	0	0	A	94050355	G	A	94050355	3	1	18	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	1126408	94050355	65088308	75	1783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	636					0	0	1	0	0	A	121694078	G	A	121694078	3	1	18	1	0	0	0	0	1	0	0	0	12866	1290	45	2	6469	2	PTPRZ1	7	121694078	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	27643723	121694078	37444585	76	1784											
FAM71F1	84691	broad.mit.edu	37	chr7	128356955	128356956	+	Frame_Shift_Ins	INS	-	-	C													tcggtaccctgcctgcccctINSccccaacatcctactcatgg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:128356955_128356956insC	ENST00000315184.5	+	2	391_392	c.338_339insC	c.(337-339)cccfs	p.P113fs	FAM71F1_ENST00000485070.1_Frame_Shift_Ins_p.PP34fs|FAM71F1_ENST00000469348.1_3'UTR	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	113										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGCCTGCCCCTCCCCAACATCC	0.569													8	285	---	---	---	---						C	128356956	-	C	128356955	7	5	18	1	0	1	1	0	0	0	0	0	5647	1551	54	0	344	0	FAM71F1	7	128356955	Frame_Shift_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08	6662877	128356955	30781708	77	1785											
TAS2R4	50832	broad.mit.edu	37	chr7	141478534	141478534	+	Frame_Shift_Del	DEL	T	T	-													aggtcagtctacctgtctgcTttttttgtgttgtgtttcat							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:141478534delT	ENST00000247881.2	+	1	293	c.246delT	c.(244-246)gcfs	p.A82fs	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	82					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)		ACCTGTCTGCTTTTTTTGTGT	0.428													7	872	---	---	---	---						-	141478534	T	-	141478534	7	5	18	1	0	1	0	1	0	0	0	0	15634	1596	56	0	248	0	TAS2R4	7	141478534	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	13121579	141478534	17660129	78	1786											
PSD3	23362	broad.mit.edu	37	chr8	18729796	18729796	+	Frame_Shift_Del	DEL	T	T	-													aaagaggtatttctggtaaaTttttttggccagcagggagc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:18729796delT	ENST00000440756.2	-	3	680	c.578delA	c.(577-579)atfs	p.N193fs	PSD3_ENST00000327040.8_Frame_Shift_Del_p.N193fs|PSD3_ENST00000523619.1_Frame_Shift_Del_p.N128fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	193					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)		TTCTGGTAAATTTTTTTGGCC	0.438													7	919	---	---	---	---						-	18729796	T	-	18729796	7	5	18	1	0	1	0	1	0	0	0	0	12697	1493	52	0	2657	0	PSD3	8	18729796	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08		18729796	127634226	79	1787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	597					0	0	1	0	0	T	36788639	C	T	36788639	2	4	18	1	0	0	0	0	0	0	0	1	8137	535	19	1		1	KCNU1	8	36788639	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	18058843	36788639	109575383	80	1788											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:53062293T>C	ENST00000276480.7	-	16	2734	c.2052_splice	c.e16+1	p.E684_splice		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													32	220					0	0	1	0	0	C	53062293	T	C	53062293	5	2	18	1	0	0	0	0	0	0	1	0	15268	1565	54	3	1136	3	ST18	8	53062293	Splice_Site	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	16273654	53062293	93301729	81	1789											
CHD7	55636	broad.mit.edu	37	chr8	61735158	61735158	+	Frame_Shift_Del	DEL	T	T	-													ttgaaaggaatccatggcccTtttttagtaattgccccatt							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:61735158delT	ENST00000423902.2	+	12	3533	c.3054delT	c.(3052-3054)ccfs	p.P1018fs	CHD7_ENST00000525508.1_Frame_Shift_Del_p.P1018fs|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1018	Helicase ATP-binding.				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)			TCCATGGCCCTTTTTTAGTAA	0.418													8	1359	---	---	---	---						-	61735158	T	-	61735158	7	5	18	1	0	1	0	1	0	0	0	0	3352	1596	56	0	3096	0	CHD7	8	61735158	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	8672865	61735158	84628864	82	1790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:61757622G>A	ENST00000423902.2	+	22	5529	c.5050_splice	c.e22+1	p.G1684_splice	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													6	916					0	0	1	0	0	A	61757622	G	A	61757622	5	1	18	1	0	0	0	0	0	0	1	0	3352	1130	39	1	5132	1	CHD7	8	61757622	Splice_Site	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	22464	61757622	84606400	83	1791											
VPS13B	157680	broad.mit.edu	37	chr8	100654474	100654474	+	Frame_Shift_Del	DEL	A	A	-													gcatttcttttccttcagggAaaaaaataggggtcctctct							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:100654474delA	ENST00000358544.2	+	34	5842	c.5731delA	c.(5731-5733)aafs	p.K1912fs	VPS13B_ENST00000357162.2_Frame_Shift_Del_p.K1887fs|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1912					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)			TCCTTCAGGGAAAAAAATAGG	0.458													8	1052	---	---	---	---						-	100654474	A	-	100654474	7	5	18	1	0	1	0	1	0	0	0	0	17250	247	9	0	6055	0	VPS13B	8	100654474	Frame_Shift_Del	DEL	A	TCGA-HZ-8637-01A-11D-2396-08	38896852	100654474	45709548	84	1792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_015435.3	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													6	873					0	0	1	0	0	A	101299991	G	A	101299991	3	1	18	1	0	0	0	0	1	0	0	0	13522	1086	38	1	2140	1	RNF19A	8	101299991	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	645517	101299991	45064031	85	1793											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	677					0	0	1	0	0	A	143599550	G	A	143599550	3	1	18	1	0	0	0	0	1	0	0	0	1296	1145	40	1	2939	1	BAI1	8	143599550	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	42299559	143599550	2764472	86	1794											
SCRIB	23513	broad.mit.edu	37	chr8	144890900	144890902	+	In_Frame_Del	DEL	TCC	TCC	-													cctcctgaggactaccctctTcctcctcctcctcctccttc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:144890900_144890902delTCC	ENST00000356994.2	-	15	1998_2000	c.1992_1994delGGA	c.(1990-1995)gaa>ga	p.EE664del	SCRIB_ENST00000377533.3_In_Frame_Del_p.EE583del|SCRIB_ENST00000320476.3_In_Frame_Del_p.EE664del	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	664	Glu-rich.|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)			actaccctcttcctcctcctcct	0.665													8	346	---	---	---	---						-	144890902	TCC	-	144890900	7	5	18	1	0	1	0	1	0	0	0	0	13991	1783	62	0	3065	0	SCRIB	8	144890900	In_Frame_Del	DEL	TCC	TCGA-HZ-8637-01A-11D-2396-08	1291350	144890900	1473122	87	1795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	653					7.48243e-07	8.02992e-07	1	1	0	T	21201878	G	T	21201878	4	4	18	1	0	0	0	0	0	1	0	0	7586	1294	45	2	286	2	IFNA7	9	21201878	Nonsense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		21201878	120011553	88	1796											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	630					0	0	1	0	0	C	79318999	T	C	79318999	3	2	18	1	0	0	0	0	1	0	0	0	12690	1396	49	3	1780	3	PRUNE2	9	79318999	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	58117121	79318999	61894432	89	1797											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359847.3_Missense_Mutation_p.A203T|NTRK2_ENST00000376213.1_Missense_Mutation_p.A203T|NTRK2_ENST00000323115.4_Missense_Mutation_p.A203T|NTRK2_ENST00000376208.1_Missense_Mutation_p.A203T|NTRK2_ENST00000277120.3_Missense_Mutation_p.A203T|NTRK2_ENST00000395882.1_Missense_Mutation_p.A203T|NTRK2_ENST00000395866.2_Missense_Mutation_p.A47T|NTRK2_ENST00000376214.1_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)			5	394					0	0	1	0	0	A	87338511	G	A	87338511	3	1	18	1	0	0	0	0	1	0	0	0	10755	1087	38	1	629	1	NTRK2	9	87338511	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	8019512	87338511	53874920	90	1798											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	364					0	0	1	0	0	A	109686870	G	A	109686870	3	1	18	1	0	0	0	0	1	0	0	0	17983	1087	38	1	683	1	ZNF462	9	109686870	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	22348359	109686870	31526561	91	1799											
CRAT	1384	broad.mit.edu	37	chr9	131864814	131864814	+	Frame_Shift_Del	DEL	C	C	-													tggttcatgcacagtggcttCccccccaggtactccacggg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:131864814delC	ENST00000318080.2	-	5	789	c.495delG	c.(493-495)ggfs	p.G165fs	CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	165					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	ACAGTGGCTTCCCCCCCAGGT	0.607													7	2021	---	---	---	---						-	131864814	C	-	131864814	7	5	18	1	0	1	0	1	0	0	0	0	3870	842	30	0	1425	0	CRAT	9	131864814	Frame_Shift_Del	DEL	C	TCGA-HZ-8637-01A-11D-2396-08	22177944	131864814	9348617	92	1800											
OGDHL	55753	broad.mit.edu	37	chr10	50946000	50946000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggagactcaccggcttgCggaagggcagcaggatctgc	16	11	2	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:50946000C>T	ENST00000374103.4	-	19	2595	c.2510G>A	c.(2509-2511)cGc>cAc	p.R837H	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.R780H|OGDHL_ENST00000432695.1_Missense_Mutation_p.R628H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	837					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R837L(1)		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						CACCGGCTTGCGGAAGGGCAG	0.647													8	1084					0	0	1	0	0	T	50946000	C	T	50946000	3	4	18	1	0	0	0	0	1	0	0	0	10888	768	27	1	542	1	OGDHL	10	50946000	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08		50946000	84588747	93	1801											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	414					0	0	1	0	0	T	72489912	C	T	72489912	3	4	18	1	0	0	0	0	1	0	0	0	258	884	31	1	1031	1	ADAMTS14	10	72489912	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	21543912	72489912	63044835	94	1802											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	438					0	0	1	0	0	T	98097935	C	T	98097935	3	4	18	1	0	0	0	0	1	0	0	0	4707	768	27	1	1526	1	DNTT	10	98097935	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	25608023	98097935	37436812	95	1803											
SFXN3	81855	broad.mit.edu	37	chr10	102798946	102798946	+	Frame_Shift_Del	DEL	C	C	-													ccccagcctggtatttgcaaCccccctgtgctgtgccctat							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:102798946delC	ENST00000393459.1	+	11	1309	c.836delC	c.(835-837)acfs	p.T279fs	SFXN3_ENST00000224807.5_Frame_Shift_Del_p.T283fs|SFXN3_ENST00000466982.1_3'UTR			Q9BWM7	SFXN3_HUMAN	sideroflexin 3	283					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			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)		GTATTTGCAACCCCCCTGTGC	0.577													7	943	---	---	---	---						-	102798946	C	-	102798946	7	5	18	1	0	1	0	1	0	0	0	0	14250	507	18	0	886	0	SFXN3	10	102798946	Frame_Shift_Del	DEL	C	TCGA-HZ-8637-01A-11D-2396-08	4701011	102798946	32735801	96	1804											
PPRC1	23082	broad.mit.edu	37	chr10	103908248	103908248	+	Frame_Shift_Del	DEL	C	C	-													aagccgctcacgatccccatCcccccgccggagaagtgaca							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:103908248delC	ENST00000278070.2	+	10	4559	c.4520delC	c.(4519-4521)tcfs	p.S1507fs	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000370012.1_Frame_Shift_Del_p.S474fs|PPRC1_ENST00000413464.2_Frame_Shift_Del_p.S1243fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1507	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)		CGATCCCCATCCCCCCGCCGG	0.557													7	1805	---	---	---	---						-	103908248	C	-	103908248	7	5	18	1	0	1	0	1	0	0	0	0	12459	855	30	0	4558	0	PPRC1	10	103908248	Frame_Shift_Del	DEL	C	TCGA-HZ-8637-01A-11D-2396-08	1109302	103908248	31626499	97	1805											
COL17A1	1308	broad.mit.edu	37	chr10	105799216	105799216	+	Frame_Shift_Del	DEL	G	G	-													cactgacctttgtcacctttGggtccctgggggccaggtgg					rs2296219	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:105799216delG	ENST00000353479.5	-	43	3173	c.2883delC	c.(2881-2883)ccfs	p.P961fs	COL17A1_ENST00000369733.3_Intron	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	961	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)		TGTCACCTTTGGGTCCCTGGG	0.597													8	448	---	---	---	---						-	105799216	G	-	105799216	7	5	18	1	0	1	0	1	0	0	0	0	3697	1335	47	0	1666	0	COL17A1	10	105799216	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	1890968	105799216	29735531	98	1806											
HMX2	3167	broad.mit.edu	37	chr10	124909413	124909414	+	Frame_Shift_Ins	INS	-	-	C													gtaaagacttggttccagaaINSccgccgcaacaagtggaagc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:124909413_124909414insC	ENST00000339992.3	+	2	853_854	c.596_597insC	c.(595-597)acgfs	p.T199fs		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	199					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)		TGGTTCCAGAACCGCCGCAACA	0.649													7	210	---	---	---	---						C	124909414	-	C	124909413	7	5	18	1	0	1	1	0	0	0	0	0	7288	43	2	0	602	0	HMX2	10	124909413	Frame_Shift_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08	19110197	124909413	10625334	99	1807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	614					0	0	1	0	0	G	10776660	A	G	10776660	2	3	18	1	0	0	0	0	0	0	0	1	4048	11	1	3		3	CTR9	11	10776660	Silent	SNP	A	TCGA-HZ-8637-01A-11D-2396-08		10776660	124229856	100	1808											
PTPRJ	5795	broad.mit.edu	37	chr11	48168446	48168446	+	Frame_Shift_Del	DEL	T	T	-													aggtgtcatctgtggagcggTttttggctgtatctttggtg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:48168446delT	ENST00000418331.2	+	15	3282	c.2930delT	c.(2929-2931)gtfs	p.V977fs		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	977					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						TGTGGAGCGGTTTTTGGCTGT	0.448													7	1531	---	---	---	---						-	48168446	T	-	48168446	7	5	18	1	0	1	0	1	0	0	0	0	12856	1725	60	0	2997	0	PTPRJ	11	48168446	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	37391786	48168446	86838070	101	1809											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	545					0	0	1	0	0	T	55371698	C	T	55371698	3	4	18	1	0	0	0	0	1	0	0	0	11093	652	23	1	782	1	OR4C11	11	55371698	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	7203252	55371698	79634818	102	1810											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355556.2_Missense_Mutation_p.D415N|HTR3A_ENST00000506841.2_Missense_Mutation_p.D409N|HTR3A_ENST00000299961.5_Missense_Mutation_p.D362N|HTR3A_ENST00000535865.1_Missense_Mutation_p.D121N|HTR3A_ENST00000375498.2_Missense_Mutation_p.D383N			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													10	416					0	0	1	0	0	A	113857759	G	A	113857759	3	1	18	1	0	0	0	0	1	0	0	0	7488	1290	45	2	1295	2	HTR3A	11	113857759	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	58486061	113857759	21148757	103	1811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													190	683					0	0	1	0	0	T	120998885	C	T	120998885	2	4	18	1	0	0	0	0	0	0	0	1	15806	639	23	1		1	TECTA	11	120998885	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	7141126	120998885	14007631	104	1812											
GLB1L3	112937	broad.mit.edu	37	chr11	134181005	134181005	+	Frame_Shift_Del	DEL	C	C	-													ttcctcccaaggctgtgtatCcccccgtgagaccgtcgctg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:134181005delC	ENST00000431683.2	+	13	1228	c.1228delC	c.(1228-1230)ccfs	p.P411fs		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	411					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)		GGCTGTGTATCCCCCCGTGAG	0.602													11	2601	---	---	---	---						-	134181005	C	-	134181005	7	5	18	1	0	1	0	1	0	0	0	0	6472	855	30	0	1278	0	GLB1L3	11	134181005	Frame_Shift_Del	DEL	C	TCGA-HZ-8637-01A-11D-2396-08	13182120	134181005	825511	105	1813											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	512					0	0	1	0	0	C	18891410	G	C	18891410	3	2	18	1	0	0	0	0	1	0	0	0	2660	1029	36	5	210	5	CAPZA3	12	18891410	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		18891410	114960485	106	1814											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)			11	88					2.80697e-09	3.04204e-09	1	1	0	A	25398284	C	A	25398284	3	1	18	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	6506874	25398284	108453611	107	1815											
ITPR2	3709	broad.mit.edu	37	chr12	26640046	26640046	+	Frame_Shift_Del	DEL	T	T	-													caattcattgtcatcgtcccTttttttgttacctaaatcta							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:26640046delT	ENST00000381340.3	-	40	5925	c.5509delA	c.(5509-5511)ggfs	p.R1837fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1837					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)					TCATCGTCCCTTTTTTTGTTA	0.358													7	697	---	---	---	---						-	26640046	T	-	26640046	7	5	18	1	0	1	0	1	0	0	0	0	7965	1608	56	0	2668	0	ITPR2	12	26640046	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	1241762	26640046	107211849	108	1816											
C12orf40	283461	broad.mit.edu	37	chr12	40076535	40076535	+	Frame_Shift_Del	DEL	G	G	-													acactcaatacagcatatttGggggaaaaatggaaaggaag							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:40076535delG	ENST00000324616.5	+	8	963	c.809delG	c.(808-810)tgfs	p.W270fs	C12orf40_ENST00000398716.1_Frame_Shift_Del_p.W193fs|C12orf40_ENST00000405531.3_Frame_Shift_Del_p.W270fs	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	270										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						CAGCATATTTGGGGGAAAAAT	0.353													8	802	---	---	---	---						-	40076535	G	-	40076535	7	5	18	1	0	1	0	1	0	0	0	0	1692	1357	47	0	839	0	C12orf40	12	40076535	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	13436489	40076535	93775360	109	1817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357869.3_Silent_p.N991N|ADCY6_ENST00000550422.1_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													5	427					0	0	1	0	0	A	49164673	G	A	49164673	2	1	18	1	0	0	0	0	0	0	0	1	297	1136	40	1		1	ADCY6	12	49164673	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	9088138	49164673	84687222	110	1818											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:53202186G>A	ENST00000293774.4	-	6	1509	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	KRT4_ENST00000551956.1_Silent_p.I339I|KRT4_ENST00000458244.2_Silent_p.I319I			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													15	507					0	0	1	0	0	A	53202186	G	A	53202186	2	1	18	1	0	0	0	0	0	0	0	1	8520	932	33	2		2	KRT4	12	53202186	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	4037513	53202186	80649709	111	1819											
SLC39A5	283375	broad.mit.edu	37	chr12	56628997	56628999	+	In_Frame_Del	DEL	CTG	CTG	-													gcctcccttctcccctatccCtgctgctgctgcggctcctg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:56628997_56628999delCTG	ENST00000266980.4	+	5	984_986	c.691_693delCTG	c.(691-693)del	p.L234del	SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	234					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCCCTATCCCTGCTGCTGCTGC	0.635													7	1454	---	---	---	---						-	56628999	CTG	-	56628997	7	5	18	1	0	1	0	1	0	0	0	0	14676	680	24	0	705	0	SLC39A5	12	56628997	In_Frame_Del	DEL	CTG	TCGA-HZ-8637-01A-11D-2396-08	3426811	56628997	77222898	112	1820											
LRIG3	121227	broad.mit.edu	37	chr12	59268350	59268351	+	Frame_Shift_Ins	INS	-	-	G													ctgctattgtcaatatggcaINSggtccctttgaaacaaaaat							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:59268350_59268351insG	ENST00000320743.3	-	17	2986_2987	c.2700_2701insC	c.(2698-2703)acgccafs	p.P901fs	LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.P841fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	901						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)			TCAATATGGCAGGTCCCTTTGA	0.401			T	ROS1	NSCLC								10	537	---	---	---	---						G	59268351	-	G	59268350	7	5	18	1	0	1	1	0	0	0	0	0	8991	188	7	0	670	0	LRIG3	12	59268350	Frame_Shift_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08	2639353	59268350	74583545	113	1821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000548324.1_Missense_Mutation_p.R83H|ACSS3_ENST00000261206.3_Missense_Mutation_p.R400H			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													15	279					0	0	1	0	0	A	81568670	G	A	81568670	3	1	18	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	22300320	81568670	52283225	114	1822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	124					6.72482e-11	7.3605e-11	1	1	0	T	122669269	G	T	122669269	2	4	18	1	0	0	0	0	0	0	0	1	9046	1045	37	4		4	LRRC43	12	122669269	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	41100599	122669269	11182626	115	1823											
PARP4	143	broad.mit.edu	37	chr13	25044068	25044068	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcccattgatgaaggcttcGaagccacacacagcggcctt	9	13	0	2	rs146166448	by1000genomes	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr13:25044068G>A	ENST00000381989.3	-	16	2115	c.2010C>T	c.(2008-2010)ttC>ttT	p.F670F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	670	VIT.				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)		TGAAGGCTTCGAAGCCACACA	0.458													5	224					0	0	1	0	0	A	25044068	G	A	25044068	2	1	18	1	0	0	0	0	0	0	0	1	11510	1049	37	1		1	PARP4	13	25044068	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		25044068	90125810	116	1824											
WASF3	10810	broad.mit.edu	37	chr13	27250862	27250863	+	Splice_Site	DEL	GT	GT	-													tccctgtccccagatactagGtgtgtgtgtgtcactgctcc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr13:27250862_27250863delGT	ENST00000335327.5	+	7	894		c.e7+1		WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3						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)		CAGATACTAGGTGTGTGTGTGT	0.475													8	485	---	---	---	---						-	27250863	GT	-	27250862	8	5	18	1	0	1	0	1	0	0	1	0	17314	1275	44	0	735	0	WASF3	13	27250862	Splice_Site	DEL	GT	TCGA-HZ-8637-01A-11D-2396-08	2206794	27250862	87919016	117	1825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								15	345					0	0	1	0	0	T	46718595	C	T	46718595	3	4	18	1	0	0	0	0	1	0	0	0	8730	884	31	1	672	1	LCP1	13	46718595	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	19467733	46718595	68451283	118	1826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000456367.1_Missense_Mutation_p.A21T|PCDH9_ENST00000377865.2_Missense_Mutation_p.A21T|PCDH9_ENST00000328454.5_Missense_Mutation_p.A21T|PCDH9_ENST00000377861.3_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													5	389					0	0	1	0	0	T	67802512	C	T	67802512	3	4	18	1	0	0	0	0	1	0	0	0	11565	768	27	1	3668	1	PCDH9	13	67802512	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	21083917	67802512	47367366	119	1827											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	199					0	0	1	0	0	C	20851408	A	C	20851408	2	2	18	1	0	0	0	0	0	0	0	1	15818	175	7	3		3	TEP1	14	20851408	Silent	SNP	A	TCGA-HZ-8637-01A-11D-2396-08		20851408	86498132	120	1828											
MMP14	4323	broad.mit.edu	37	chr14	23312996	23312996	+	Frame_Shift_Del	DEL	A	A	-													cttctgttcctgataaacccAaaaaccccacctatgggccc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:23312996delA	ENST00000311852.6	+	6	1189	c.928delA	c.(928-930)aafs	p.K310fs	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	310						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)		TGATAAACCCAAAAACCCCAC	0.577													7	1283	---	---	---	---						-	23312996	A	-	23312996	7	5	18	1	0	1	0	1	0	0	0	0	9701	131	5	0	950	0	MMP14	14	23312996	Frame_Shift_Del	DEL	A	TCGA-HZ-8637-01A-11D-2396-08	2461588	23312996	84036544	121	1829											
REC8	9985	broad.mit.edu	37	chr14	24642564	24642564	+	Frame_Shift_Del	DEL	T	T	-													tagaagatgctccagatcccTtttttgggatgatgtctgtg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:24642564delT	ENST00000311457.3	+	6	1005	c.406delT	c.(406-408)ttfs	p.F137fs	REC8_ENST00000559919.1_Frame_Shift_Del_p.F137fs			O95072	REC8_HUMAN	REC8 meiotic recombination protein	137					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)		TCCAGATCCCTTTTTTGGGAT	0.532													7	1443	---	---	---	---						-	24642564	T	-	24642564	7	5	18	1	0	1	0	1	0	0	0	0	13251	1609	56	0	424	0	REC8	14	24642564	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	1329568	24642564	82706976	122	1830											
NPAS3	64067	broad.mit.edu	37	chr14	34269751	34269751	+	Frame_Shift_Del	DEL	G	G	-													gcccccgtcgcctccgacccGctgtcacccccgctctcggc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:34269751delG	ENST00000346562.2	+	11	2216	c.2142delG	c.(2140-2142)ccfs	p.P714fs	NPAS3_ENST00000356141.4_Frame_Shift_Del_p.P746fs|NPAS3_ENST00000551492.1_Frame_Shift_Del_p.P751fs|NPAS3_ENST00000548645.1_Frame_Shift_Del_p.P716fs|NPAS3_ENST00000357798.5_Frame_Shift_Del_p.P733fs	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	746	Gly-rich.				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)		CCTCCGACCCGCTGTCACCCC	0.841													2	4	---	---	---	---						-	34269751	G	-	34269751	7	5	18	1	0	1	0	1	0	0	0	0	10611	1074	38	0	2339	0	NPAS3	14	34269751	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	9627187	34269751	73079789	123	1831											
BEGAIN	57596	broad.mit.edu	37	chr14	101005271	101005273	+	In_Frame_Del	DEL	CCT	CCT	-													cgggaaggccgccgcctcggCctcctcctcctcctcggccg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:101005271_101005273delCCT	ENST00000556751.1	-	5	4027_4029	c.623_625delAGG	c.(622-627)gcc>g	p.EA210del	BEGAIN_ENST00000443071.2_In_Frame_Del_p.EA274del|BEGAIN_ENST00000355173.2_In_Frame_Del_p.EA274del			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	274						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCCGCCTCGGCCTCCTCCTCCTC	0.724													8	182	---	---	---	---						-	101005273	CCT	-	101005271	7	5	18	1	0	1	0	1	0	0	0	0	1395	739	26	0	968	0	BEGAIN	14	101005271	In_Frame_Del	DEL	CCT	TCGA-HZ-8637-01A-11D-2396-08	66735520	101005271	6344269	124	1832											
THBS1	7057	broad.mit.edu	37	chr15	39885651	39885651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaccttcttcatcaacaccGaaagggacgatgactatgct	8	12	3	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:39885651G>A	ENST00000260356.5	+	19	3214	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1017	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)	CATCAACACCGAAAGGGACGA	0.493													9	1514					0	0	1	0	0	A	39885651	G	A	39885651	3	1	18	1	0	0	0	0	1	0	0	0	15913	1059	37	1	3119	1	THBS1	15	39885651	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		39885651	62645741	125	1833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	149					9.31168e-06	9.94451e-06	1	1	0	T	42147503	G	T	42147503	2	4	18	1	0	0	0	0	0	0	0	1	15178	1219	43	2		2	SPTBN5	15	42147503	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	2261852	42147503	60383889	126	1834											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	437					0	0	1	0	0	C	51012246	T	C	51012246	3	2	18	1	0	0	0	0	1	0	0	0	15144	1609	56	3	191	3	SPPL2A	15	51012246	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	8864743	51012246	51519146	127	1835											
FAM63B	54629	broad.mit.edu	37	chr15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-													aggaacaggaacaagcagcaGctgctgctgctgctgcttct							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)del	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									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						ACAAGCAGCAGCTGCTGCTGCTG	0.468													13	705	---	---	---	---						-	59144134	GCT	-	59144132	7	5	18	1	0	1	0	1	0	0	0	0	5632	971	34	0	1735	0	FAM63B	15	59144132	In_Frame_Del	DEL	GCT	TCGA-HZ-8637-01A-11D-2396-08	8131886	59144132	43387260	128	1836											
TLN2	83660	broad.mit.edu	37	chr15	63076122	63076123	+	Frame_Shift_Del	DEL	CA	CA	-													aagacccctattttaagatgCacacacacactggtgcccac							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:63076122_63076123delCA	ENST00000472902.1	+	9	1201_1202	c.948_949delCA	c.(946-951)tgcafs	p.CT316fs	TLN2_ENST00000306829.6_Intron|TLN2_ENST00000561311.1_Intron			Q9Y4G6	TLN2_HUMAN	talin 2	0	FERM.|Interaction with PIP5K1C (By similarity).				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						TTTTAAGATGCACACACACACT	0.554													8	446	---	---	---	---						-	63076123	CA	-	63076122	7	5	18	1	0	1	0	1	0	0	0	0	16008	725	25	0		0	TLN2	15	63076122	Frame_Shift_Del	DEL	CA	TCGA-HZ-8637-01A-11D-2396-08	3931990	63076122	39455270	129	1837											
TAOK2	9344	broad.mit.edu	37	chr16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-													atgcctcagacaacgaggaaGaggaggaggaggaggaggaa							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)del	p.E392del	TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	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						CAACgaggaagaggaggaggagg	0.611													13	448	---	---	---	---						-	29994533	GAG	-	29994531	7	5	18	1	0	1	0	1	0	0	0	0	15605	943	33	0	1180	0	TAOK2	16	29994531	In_Frame_Del	DEL	GAG	TCGA-HZ-8637-01A-11D-2396-08		29994531	60360222	130	1838											
FUS	2521	broad.mit.edu	37	chr16	31201632	31201634	+	In_Frame_Del	DEL	GTG	GTG	-													aggctatggaggtggtggcaGtggtggtggtggccgaggag							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:31201632_31201634delGTG	ENST00000254108.7	+	12	1310_1312	c.1205_1207delGTG	c.(1204-1209)agt>a	p.SG402del	FUS_ENST00000568685.1_In_Frame_Del_p.SG403del|FUS_ENST00000380244.3_In_Frame_Del_p.SG401del|FUS_ENST00000474990.1_3'UTR	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	402	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)		ggtggtggcagtggtggtggtgg	0.557			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"								7	555	---	---	---	---						-	31201634	GTG	-	31201632	7	5	18	1	0	1	0	1	0	0	0	0	6135	1029	36	0	1251	0	FUS	16	31201632	In_Frame_Del	DEL	GTG	TCGA-HZ-8637-01A-11D-2396-08	1207101	31201632	59153121	131	1839											
CNGB1	1258	broad.mit.edu	37	chr16	57983275	57983277	+	In_Frame_Del	DEL	TCC	TCC	-													actcagtcacctcctcctctTcctcctcctcctcctcttcc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:57983275_57983277delTCC	ENST00000564448.1	-	14	1143_1145	c.1083_1085delGGA	c.(1081-1086)gaa>ga	p.EE363del	CNGB1_ENST00000251102.8_In_Frame_Del_p.EE369del			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	369	Poly-Glu.				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						ctcctcctcttcctcctcctcct	0.586													7	430	---	---	---	---						-	57983277	TCC	-	57983275	7	5	18	1	0	1	0	1	0	0	0	0	3623	1783	62	0	2732	0	CNGB1	16	57983275	In_Frame_Del	DEL	TCC	TCGA-HZ-8637-01A-11D-2396-08	26781643	57983275	32371478	132	1840											
C16orf70	80262	broad.mit.edu	37	chr16	67180989	67180989	+	Frame_Shift_Del	DEL	C	C	-													gcctcggtgaccctgtatggCccccccaggcctggtagcca							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:67180989delC	ENST00000219139.3	+	16	1412	c.1224delC	c.(1222-1224)ggfs	p.G408fs	C16orf70_ENST00000569600.1_Frame_Shift_Del_p.G408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		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)		CCCTGTATGGCCCCCCCAGGC	0.597													8	976	---	---	---	---						-	67180989	C	-	67180989	7	5	18	1	0	1	0	1	0	0	0	0	1836	726	26	0	1286	0	C16orf70	16	67180989	Frame_Shift_Del	DEL	C	TCGA-HZ-8637-01A-11D-2396-08	9197714	67180989	23173764	133	1841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000521374.1_Missense_Mutation_p.S489G|HSF4_ENST00000421453.1_Missense_Mutation_p.S459G|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)	36	592					0	0	1	0	0	G	67203674	A	G	67203674	3	3	18	1	0	0	0	0	1	0	0	0	7439	188	7	3	1529	3	HSF4	16	67203674	Missense_Mutation	SNP	A	TCGA-HZ-8637-01A-11D-2396-08	22685	67203674	23151079	134	1842											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000569174.1_Missense_Mutation_p.A27T|WWP2_ENST00000448661.1_Missense_Mutation_p.A27T|WWP2_ENST00000356003.2_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)	7	734					0	0	1	0	0	A	69832593	G	A	69832593	3	1	18	1	0	0	0	0	1	0	0	0	17476	1087	38	1	85	1	WWP2	16	69832593	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	2628919	69832593	20522160	135	1843											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	335					0	0	1	0	0	A	89341354	G	A	89341354	2	1	18	1	0	0	0	0	0	0	0	1	635	1048	37	1		1	ANKRD11	16	89341354	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	19508761	89341354	1013399	136	1844											
PHF23	79142	broad.mit.edu	37	chr17	7140034	7140034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagccatcactgtcggccGcactctctcctcgcaatgga	8	18	2	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:7140034G>A	ENST00000320316.3	-	4	438	c.212C>T	c.(211-213)gCg>gTg	p.A71V	PHF23_ENST00000576955.1_5'UTR|PHF23_ENST00000571362.1_Intron|PHF23_ENST00000454255.2_Missense_Mutation_p.A67V|PHF23_ENST00000570753.1_5'UTR	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	71							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						ACTGTCGGCCGCACTCTCTCC	0.552													8	922					0	0	1	0	0	A	7140034	G	A	7140034	3	1	18	1	0	0	0	0	1	0	0	0	11883	1087	38	1	1007	1	PHF23	17	7140034	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		7140034	74055176	137	1845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_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)			81	319					0	0	1	0	0	T	7577548	C	T	7577548	3	4	18	1	0	0	0	0	1	0	0	0	16442	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	437514	7577548	73617662	138	1846											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358181.4_Missense_Mutation_p.A1736V|CHD3_ENST00000330494.7_Missense_Mutation_p.A1770V	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													7	1351					0	0	1	0	0	T	7812062	C	T	7812062	3	4	18	1	0	0	0	0	1	0	0	0	3348	739	26	2	5732	2	CHD3	17	7812062	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	234514	7812062	73383148	139	1847											
NDEL1	81565	broad.mit.edu	37	chr17	8370271	8370273	+	In_Frame_Del	DEL	CTC	CTC	-													agtaaacggctttgaccccgCtcctcctcctcctggtctgg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:8370271_8370273delCTC	ENST00000334527.7	+	9	1165_1167	c.968_970delCTC	c.(967-972)gct>g	p.AP323del	NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000380025.4_3'UTR|NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000402554.3_3'UTR	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	323	Interaction with CENPF.|Interaction with NEFL (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						TTTGACCCCGCTCCTCCTCCTCC	0.576													7	732	---	---	---	---						-	8370273	CTC	-	8370271	7	5	18	1	0	1	0	1	0	0	0	0	10291	797	28	0	1037	0	NDEL1	17	8370271	In_Frame_Del	DEL	CTC	TCGA-HZ-8637-01A-11D-2396-08	558209	8370271	72824939	140	1848											
MED9	55090	broad.mit.edu	37	chr17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-													gcatccacctgagccccgaaCagcagcagcagcagctgcag							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)del	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117					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						GAGCCCCGAACAGCAGCAGCAGC	0.581													7	816	---	---	---	---						-	17394707	CAG	-	17394705	7	5	18	1	0	1	0	1	0	0	0	0	9504	479	17	0	343	0	MED9	17	17394705	In_Frame_Del	DEL	CAG	TCGA-HZ-8637-01A-11D-2396-08	9024434	17394705	63800505	141	1849											
TEX2	55852	broad.mit.edu	37	chr17	62291438	62291440	+	In_Frame_Del	DEL	TCC	TCC	-													ccctgaactcctcctcctctTcctcctcctcctcgccggat							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:62291438_62291440delTCC	ENST00000258991.3	-	2	222_224	c.138_140delGGA	c.(136-141)gaa>ga	p.EE50del	TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del|TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del			Q8IWB9	TEX2_HUMAN	testis expressed 2	50	Poly-Glu.				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)		ctcctcctcttcctcctcctcct	0.552													12	620	---	---	---	---						-	62291440	TCC	-	62291438	7	5	18	1	0	1	0	1	0	0	0	0	15840	1783	62	0	3308	0	TEX2	17	62291438	In_Frame_Del	DEL	TCC	TCGA-HZ-8637-01A-11D-2396-08	44896733	62291438	18903772	142	1850											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'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													13	276					0	0	1	0	0	A	67144973	G	A	67144973	3	1	18	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	4853535	67144973	14050237	143	1851											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr18:9886941A>G	ENST00000306084.6	+	2	664	c.465A>G	c.(463-465)aaA>aaG	p.K155K	TXNDC2_ENST00000536353.2_Silent_p.K88K|TXNDC2_ENST00000357775.4_Silent_p.K88K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	155	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						CCTCAGCAAAACCCATCCAGC	0.547													8	1322					0	0	1	0	0	G	9886941	A	G	9886941	2	3	18	1	0	0	0	0	0	0	0	1	16859	40	2	3		3	TXNDC2	18	9886941	Silent	SNP	A	TCGA-HZ-8637-01A-11D-2396-08		9886941	68190307	144	1852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000581374.1_Missense_Mutation_p.S254N|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.S254N|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000583022.1_5'UTR	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													22	1405					0	0	1	0	0	T	24436320	C	T	24436320	3	4	18	1	0	0	0	0	1	0	0	0	825	797	28	2	148	2	AQP4	18	24436320	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	14549379	24436320	53640928	145	1853											
ARRDC5	645432	broad.mit.edu	37	chr19	4891312	4891313	+	Frame_Shift_Ins	INS	-	-	G													gtggtgttgaagcgggtcacINSgggggtgttggcctcctgcc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:4891312_4891313insG	ENST00000381781.2	-	3	773_774	c.774_775insC	c.(772-777)cctgacfs	p.D259fs		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	259					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)		AAGCGGGTCACGGGGGTGTTGG	0.624													7	343	---	---	---	---						G	4891313	-	G	4891312	7	5	18	1	0	1	1	0	0	0	0	0	985	536	19	0	257	0	ARRDC5	19	4891312	Frame_Shift_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08		4891312	54237671	146	1854											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	465					0	0	1	0	0	G	9090831	A	G	9090831	2	3	18	1	0	0	0	0	0	0	0	1	10021	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-HZ-8637-01A-11D-2396-08	4199519	9090831	50038152	147	1855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000529370.1_Missense_Mutation_p.V318L|TYK2_ENST00000524462.1_Missense_Mutation_p.V133L|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													7	494					0	0	1	0	0	G	10476252	C	G	10476252	3	3	18	1	0	0	0	0	1	0	0	0	16872	507	18	5	2687	5	TYK2	19	10476252	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	1385421	10476252	48652731	148	1856											
RGL3	57139	broad.mit.edu	37	chr19	11526663	11526663	+	Frame_Shift_Del	DEL	A	A	-													gctctcgctcagcctcctccAaaaaatcttccagaagcttc					rs151155820	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:11526663delA	ENST00000380456.3	-	5	650	c.587delT	c.(586-588)tgfs	p.L196fs	RGL3_ENST00000393423.3_Frame_Shift_Del_p.L196fs	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	196	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						AGCCTCCTCCAAAAAATCTTC	0.582													8	2015	---	---	---	---						-	11526663	A	-	11526663	7	5	18	1	0	1	0	1	0	0	0	0	13330	131	5	0	1623	0	RGL3	19	11526663	Frame_Shift_Del	DEL	A	TCGA-HZ-8637-01A-11D-2396-08	1050411	11526663	47602320	149	1857											
CYP4F3	4051	broad.mit.edu	37	chr19	15769322	15769322	+	Frame_Shift_Del	DEL	T	T	-													cattatctgcctcatcagtgTttttggaacccatcacaacc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:15769322delT	ENST00000221307.7	+	11	1319	c.1271delT	c.(1270-1272)gtfs	p.V424fs	CYP4F3_ENST00000585846.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000591058.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000586182.1_Frame_Shift_Del_p.V424fs	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	424					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CTCATCAGTGTTTTTGGAACC	0.622													8	1938	---	---	---	---						-	15769322	T	-	15769322	7	5	18	1	0	1	0	1	0	0	0	0	4213	1725	60	0	1309	0	CYP4F3	19	15769322	Frame_Shift_Del	DEL	T	TCGA-HZ-8637-01A-11D-2396-08	4242659	15769322	43359661	150	1858											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545697.1_Nonsense_Mutation_p.R421*|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Nonsense_Mutation_p.R931*|LTBP4_ENST00000243562.9_Nonsense_Mutation_p.R66*|LTBP4_ENST00000396819.3_Nonsense_Mutation_p.R901*	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													6	339					0	0	1	0	0	T	41120241	C	T	41120241	4	4	18	1	0	0	0	0	0	1	0	0	9121	760	27	1	3281	1	LTBP4	19	41120241	Nonsense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	25350919	41120241	18008742	151	1859											
ATP5SL	55101	broad.mit.edu	37	chr19	41942324	41942324	+	Frame_Shift_Del	DEL	A	A	-													cgcctccctgcttcaggatgAaaaaggcacctgcgccgtat							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:41942324delA	ENST00000221943.9	-	3	274	c.269delT	c.(268-270)tcfs	p.F90fs	ATP5SL_ENST00000590641.2_Intron|ATP5SL_ENST00000592922.2_Intron|ATP5SL_ENST00000595425.1_Intron|ATP5SL_ENST00000438807.3_Intron|ATP5SL_ENST00000417807.3_Frame_Shift_Del_p.F96fs|ATP5SL_ENST00000597457.1_Intron|ATP5SL_ENST00000301183.11_Frame_Shift_Del_p.F96fs|ATP5SL_ENST00000589970.1_Frame_Shift_Del_p.F90fs	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	90										breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						CTTCAGGATGAAAAAGGCACC	0.552													10	1158	---	---	---	---						-	41942324	A	-	41942324	7	5	18	1	0	1	0	1	0	0	0	0	1162	246	9	0	520	0	ATP5SL	19	41942324	Frame_Shift_Del	DEL	A	TCGA-HZ-8637-01A-11D-2396-08	822083	41942324	17186659	152	1860											
ZNF576	79177	broad.mit.edu	37	chr19	44102990	44102990	+	Frame_Shift_Del	DEL	G	G	-													ccacattcctcaggccacctGggggccccgaagtgcacccg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:44102990delG	ENST00000336564.4	+	3	247	c.93delG	c.(91-93)ctfs	p.L31fs	SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000525771.1_Frame_Shift_Del_p.L31fs|ZNF576_ENST00000528387.1_Frame_Shift_Del_p.L31fs|ZNF576_ENST00000391965.2_Frame_Shift_Del_p.L31fs|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000533118.1_Frame_Shift_Del_p.L31fs|ZNF576_ENST00000529930.1_Frame_Shift_Del_p.L31fs	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				CAGGCCACCTGGGGGCCCCGA	0.592													7	880	---	---	---	---						-	44102990	G	-	44102990	7	5	18	1	0	1	0	1	0	0	0	0	18065	1335	47	0	99	0	ZNF576	19	44102990	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	2160666	44102990	15025993	153	1861											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000533118.1_Missense_Mutation_p.R167Q|ZNF576_ENST00000529930.1_Missense_Mutation_p.R167Q|ZNF576_ENST00000528387.1_Missense_Mutation_p.R167Q|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000525771.1_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													13	252					0	0	1	0	0	A	44103397	G	A	44103397	3	1	18	1	0	0	0	0	1	0	0	0	18065	1116	39	1	506	1	ZNF576	19	44103397	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	407	44103397	15025586	154	1862											
PLAUR	5329	broad.mit.edu	37	chr19	44174235	44174237	+	In_Frame_Del	DEL	AGC	AGC	-													tacctgggacgcaggtgtggAgcagcagcagcagcggcagc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:44174235_44174237delAGC	ENST00000221264.4	-	1	462_464	c.36_38delGCT	c.(34-39)ctc>ct	p.LL12del	PLAUR_ENST00000601723.1_In_Frame_Del_p.LL12del|PLAUR_ENST00000340093.3_In_Frame_Del_p.LL12del|PLAUR_ENST00000339082.3_In_Frame_Del_p.LL12del	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	12					attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCAGGTGTGGagcagcagcagca	0.66													9	889	---	---	---	---						-	44174237	AGC	-	44174235	7	5	18	1	0	1	0	1	0	0	0	0	12071	304	11	0	1093	0	PLAUR	19	44174235	In_Frame_Del	DEL	AGC	TCGA-HZ-8637-01A-11D-2396-08	70838	44174235	14954748	155	1863											
TMEM143	55260	broad.mit.edu	37	chr19	48866688	48866688	+	Frame_Shift_Del	DEL	G	G	-													tgccagcgatgagagggcccGggggggcccgaggagcgcgg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:48866688delG	ENST00000293261.3	-	2	440	c.124delC	c.(124-126)ggfs	p.R42fs	TMEM143_ENST00000598012.1_5'UTR|TMEM143_ENST00000541566.1_Intron|TMEM143_ENST00000436660.2_Frame_Shift_Del_p.R42fs|TMEM143_ENST00000435956.3_Frame_Shift_Del_p.R42fs|TMEM143_ENST00000377431.2_Frame_Shift_Del_p.R42fs	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	42						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)		GAGAGGGCCCGGGGGGGCCCG	0.682													10	541	---	---	---	---						-	48866688	G	-	48866688	7	5	18	1	0	1	0	1	0	0	0	0	16117	1115	39	0	1283	0	TMEM143	19	48866688	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	4692453	48866688	10262295	156	1864											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:49714750G>C	ENST00000252826.5	+	25	3766		c.e25-1		TRPM4_ENST00000355712.5_Splice_Site|TRPM4_ENST00000427978.2_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													9	1132					0	0	1	0	0	C	49714750	G	C	49714750	5	2	18	1	0	0	0	0	0	0	1	0	16649	956	33	5	3738	5	TRPM4	19	49714750	Splice_Site	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	848062	49714750	9414233	157	1865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	679					0	0	1	0	0	A	51629104	G	A	51629104	2	1	18	1	0	0	0	0	0	0	0	1	14370	1045	37	1		1	SIGLEC9	19	51629104	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	1914354	51629104	7499879	158	1866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354278.3_Missense_Mutation_p.E165G|NLRP12_ENST00000391773.1_Missense_Mutation_p.E165G|NLRP12_ENST00000345770.5_Missense_Mutation_p.E165G|NLRP12_ENST00000391772.1_Missense_Mutation_p.E165G|NLRP12_ENST00000535162.1_Missense_Mutation_p.E165G|NLRP12_ENST00000351894.4_Missense_Mutation_p.E165G|NLRP12_ENST00000391775.3_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													5	606					0	0	1	0	0	C	54314419	T	C	54314419	3	2	18	1	0	0	0	0	1	0	0	0	10521	1551	54	3	2819	3	NLRP12	19	54314419	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	2685315	54314419	4814564	159	1867											
NLRP7	199713	broad.mit.edu	37	chr19	55435113	55435113	+	Frame_Shift_Del	DEL	A	A	-													gcgatcccaggctgctcagcAaaaaaagtcacagcacggag							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:55435113delA	ENST00000588756.1	-	13	3595	c.3109delT	c.(3109-3111)gcfs	p.C1037fs	NLRP7_ENST00000592784.1_Frame_Shift_Del_p.C1037fs|NLRP7_ENST00000590030.1_Frame_Shift_Del_p.C980fs|NLRP7_ENST00000448121.2_Frame_Shift_Del_p.C1009fs|NLRP7_ENST00000446217.1_Frame_Shift_Del_p.C1065fs|NLRP7_ENST00000340844.2_Frame_Shift_Del_p.C980fs|NLRP7_ENST00000328092.5_Frame_Shift_Del_p.C1009fs			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	0							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)		GCTGCTCAGCAAAAAAAGTCA	0.478													7	768	---	---	---	---						-	55435113	A	-	55435113	7	5	18	1	0	1	0	1	0	0	0	0	10529	130	5	0	8	0	NLRP7	19	55435113	Frame_Shift_Del	DEL	A	TCGA-HZ-8637-01A-11D-2396-08	1120694	55435113	3693870	160	1868											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000592784.1_Silent_p.A494A|NLRP7_ENST00000590030.1_Silent_p.A494A|NLRP7_ENST00000588756.1_Silent_p.A494A|NLRP7_ENST00000340844.2_Silent_p.A494A|NLRP7_ENST00000328092.5_Silent_p.A494A|NLRP7_ENST00000448121.2_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													14	480					0	0	1	0	0	A	55450705	G	A	55450705	2	1	18	1	0	0	0	0	0	0	0	1	10529	987	35	2		2	NLRP7	19	55450705	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	15592	55450705	3678278	161	1869											
PPP1R12C	54776	broad.mit.edu	37	chr19	55607462	55607462	+	Frame_Shift_Del	DEL	C	C	-													tcctcgtcctggatggggggCcccccagccccaccaggccg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:55607462delC	ENST00000263433.3	-	8	1125	c.1110delG	c.(1108-1110)ggfs	p.G370fs	PPP1R12C_ENST00000435544.2_Frame_Shift_Del_p.G296fs|PPP1R12C_ENST00000376393.2_Frame_Shift_Del_p.G370fs	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	370						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)		GGATGGGGGGCCCCCCAGCCC	0.647													8	791	---	---	---	---						-	55607462	C	-	55607462	7	5	18	1	0	1	0	1	0	0	0	0	12405	726	26	0	1298	0	PPP1R12C	19	55607462	Frame_Shift_Del	DEL	C	TCGA-HZ-8637-01A-11D-2396-08	156757	55607462	3521521	162	1870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	571					0	0	1	0	0	C	57956396	T	C	57956396	3	2	18	1	0	0	0	0	1	0	0	0	18181	1580	55	3	1890	3	ZNF749	19	57956396	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	2348934	57956396	1172587	163	1871											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359675.2_Missense_Mutation_p.A202V|NDRG3_ENST00000349004.1_Missense_Mutation_p.A214V|NDRG3_ENST00000373773.3_Missense_Mutation_p.A119V|NDRG3_ENST00000540765.1_Missense_Mutation_p.A110V			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													5	412					0	0	1	0	0	A	35294743	G	A	35294743	3	1	18	1	0	0	0	0	1	0	0	0	10300	1203	42	2	514	2	NDRG3	20	35294743	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		35294743	27730777	164	1872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr20:44685057C>A	ENST00000454036.1	+	23	3109	c.3033C>A	c.(3031-3033)tcC>tcA	p.S1011S	SLC12A5_ENST00000243964.3_Silent_p.S988S	NM_001134771.1	NP_001128243.1	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													5	208					1	1	1	1	0	A	44685057	C	A	44685057	2	1	18	1	0	0	0	0	0	0	0	1	14441	610	22	2		2	SLC12A5	20	44685057	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	9390314	44685057	18340463	165	1873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	758					0	0	1	0	0	T	57766652	C	T	57766652	3	4	18	1	0	0	0	0	1	0	0	0	18232	536	19	1	580	1	ZNF831	20	57766652	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	13081595	57766652	5258868	166	1874											
BAGE2	85319	broad.mit.edu	37	chr21	11085780	11085781	+	RNA	INS	-	-	C													caccaccatcatcaccaccaINScatcacaatcaccaccacca							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr21:11085780_11085781insC	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)		catcaccaccacatcacaatca	0.579													5	7	---	---	---	---						C	11085781	-	C	11085780	6	5	18	0	1	1	1	0	0	0	0	0	1290	174	6	0		0	BAGE2	21	11085780	RNA	INS	-	TCGA-HZ-8637-01A-11D-2396-08		11085780	37044115	167	1875											
BAGE2	85319	broad.mit.edu	37	chr21	11097726	11097726	+	RNA	DEL	G	G	-													ggtggctggggccagtttcaGcgaaggcactcacacccacc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr21:11097726delG	ENST00000470054.1	-	0	223									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)		GCCAGTTTCAGCGAAGGCACT	0.587													9	182	---	---	---	---						-	11097726	G	-	11097726	6	5	18	0	1	1	0	1	0	0	0	0	1290	986	34	0		0	BAGE2	21	11097726	RNA	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	11946	11097726	37032169	168	1876											
APP	351	broad.mit.edu	37	chr21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-													ccacctcttccacagactctGtggtggtggtggtggtggtg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr21:27394182_27394184delGTG	ENST00000358918.3	-	6	1036_1038	c.837_839delCAC	c.(835-840)aca>ac	p.TT279del	APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000474136.1_5'UTR|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				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)				CACAGACTCTgtggtggtggtgg	0.522													8	218	---	---	---	---						-	27394184	GTG	-	27394182	7	5	18	1	0	1	0	1	0	0	0	0	812	1377	48	0	1525	0	APP	21	27394182	In_Frame_Del	DEL	GTG	TCGA-HZ-8637-01A-11D-2396-08	16296456	27394182	20735713	169	1877											
TTC3	7267	broad.mit.edu	37	chr21	38538054	38538054	+	Frame_Shift_Del	DEL	A	A	-													aggttgcatcacggctcaagAaaaaaaggaagaagaaaaac							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr21:38538054delA	ENST00000399017.2	+	33	6285	c.3538delA	c.(3538-3540)aafs	p.K1181fs	TTC3_ENST00000354749.2_Frame_Shift_Del_p.K1181fs|TTC3_ENST00000355666.1_Frame_Shift_Del_p.K1181fs|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1181	Arg/Lys-rich (basic).				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)				ACGGCTCAAGAAAAAAAGGAA	0.383													7	1247	---	---	---	---						-	38538054	A	-	38538054	7	5	18	1	0	1	0	1	0	0	0	0	16759	247	9	0	3664	0	TTC3	21	38538054	Frame_Shift_Del	DEL	A	TCGA-HZ-8637-01A-11D-2396-08	11143872	38538054	9591841	170	1878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000486519.1_5'UTR|U2AF1_ENST00000459639.1_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"								24	232					0	0	1	0	0	A	44524456	G	A	44524456	3	1	18	1	0	0	0	0	1	0	0	0	16882	942	33	2	720	2	U2AF1	21	44524456	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	5986402	44524456	3605439	171	1879											
CABIN1	23523	broad.mit.edu	37	chr22	24567686	24567686	+	Frame_Shift_Del	DEL	G	G	-													tgtttgtcctcacaggcctcGggggacacccccaccactcc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr22:24567686delG	ENST00000398319.2	+	34	6148	c.5763delG	c.(5761-5763)tcfs	p.S1921fs	CABIN1_ENST00000405822.2_Frame_Shift_Del_p.S1842fs|CABIN1_ENST00000263119.5_Frame_Shift_Del_p.S1921fs|CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000337989.7_Frame_Shift_Del_p.S346fs	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1921					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						CACAGGCCTCGGGGGACACCC	0.627													7	1366	---	---	---	---						-	24567686	G	-	24567686	7	5	18	1	0	1	0	1	0	0	0	0	2546	1103	39	0	5893	0	CABIN1	22	24567686	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08		24567686	26736880	172	1880											
TCF20	6942	broad.mit.edu	37	chr22	42610948	42610948	+	Frame_Shift_Del	DEL	G	G	-													attgccaaagctgctcccctGggggggtccatagctctgca					rs138734341		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr22:42610948delG	ENST00000359486.3	-	1	500	c.364delC	c.(364-366)agfs	p.Q122fs	TCF20_ENST00000335626.4_Frame_Shift_Del_p.Q122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	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						CTGCTCCCCTGGGGGGGTCCA	0.567													8	1209	---	---	---	---						-	42610948	G	-	42610948	7	5	18	1	0	1	0	1	0	0	0	0	15750	1357	47	0	5556	0	TCF20	22	42610948	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	18043262	42610948	8693618	173	1881											
ZFX	7543	broad.mit.edu	37	chrX	24229134	24229134	+	Frame_Shift_Del	DEL	A	A	-													acgtggctgcccacaagggcAaaaaaatgcaccagtgtaga							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:24229134delA	ENST00000379177.1	+	11	2486	c.2059delA	c.(2059-2061)aafs	p.K688fs	ZFX_ENST00000539115.1_Frame_Shift_Del_p.K459fs|ZFX_ENST00000304543.5_Frame_Shift_Del_p.K688fs|ZFX_ENST00000540034.1_Frame_Shift_Del_p.K727fs|ZFX_ENST00000338565.3_Frame_Shift_Del_p.K638fs|ZFX_ENST00000379188.3_Frame_Shift_Del_p.K688fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	688					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						CCACAAGGGCAAAAAAATGCA	0.428													7	780	---	---	---	---						-	24229134	A	-	24229134	7	5	18	1	0	1	0	1	0	0	0	0	17719	131	5	0	2144	0	ZFX	23	24229134	Frame_Shift_Del	DEL	A	TCGA-HZ-8637-01A-11D-2396-08		24229134	131041426	174	1882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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	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													12	374					0	0	1	0	0	A	32563424	G	A	32563424	3	1	18	1	0	0	0	0	1	0	0	0	4608	1203	42	2	9532	2	DMD	23	32563424	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	8334290	32563424	122707136	175	1883											
GRIPAP1	56850	broad.mit.edu	37	chrX	48841735	48841737	+	In_Frame_Del	DEL	CTG	CTG	-													ataaggtcctcgtactcagcCtgctgctgctgcaactcagc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:48841735_48841737delCTG	ENST00000376423.4	-	13	993_995	c.961_963delCAG	c.(961-963)del	p.Q321del	GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_In_Frame_Del_p.Q329del|GRIPAP1_ENST00000376425.3_In_Frame_Del_p.Q343del|GRIPAP1_ENST00000376441.1_In_Frame_Del_p.Q374del	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	374						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CGTACTCAGCCTGCTGCTGCTGC	0.517													7	336	---	---	---	---						-	48841737	CTG	-	48841735	7	5	18	1	0	1	0	1	0	0	0	0	6830	680	24	0	1509	0	GRIPAP1	23	48841735	In_Frame_Del	DEL	CTG	TCGA-HZ-8637-01A-11D-2396-08	16278311	48841735	106428825	176	1884											
GAGE2D	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT													gttggcgaggaagatcgaccINStatcggcctagaccaagacg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													20	72	---	---	---	---						TAT	49208296	-	TAT	49208295	7	5	18	1	0	1	1	0	0	0	0	0	6229	668	24	0	366	0	GAGE2D	23	49208295	In_Frame_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08	366560	49208295	106062265	177	1885											
MED12	9968	broad.mit.edu	37	chrX	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-													cagcagcagtaccacatccgGcagcagcagcagcagcagat							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:70360680_70360682delGCA	ENST00000333646.6	+	42	6448_6450	c.6249_6251delGCA	c.(6247-6252)cgg>cg	p.RQ2083del	MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	2080	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)					accacatccggcagcagcagcag	0.586			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						12	408	---	---	---	---						-	70360682	GCA	-	70360680	7	5	18	1	0	1	0	1	0	0	0	0	9478	1190	42	0	6406	0	MED12	23	70360680	In_Frame_Del	DEL	GCA	TCGA-HZ-8637-01A-11D-2396-08	21152385	70360680	84909880	178	1886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373294.5_Silent_p.K150K|TBX22_ENST00000373296.3_Silent_p.K150K|TBX22_ENST00000373291.1_Silent_p.K30K	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													101	438					0	0	1	0	0	G	79279655	A	G	79279655	2	3	18	1	0	0	0	0	0	0	0	1	15718	40	2	3		3	TBX22	23	79279655	Silent	SNP	A	TCGA-HZ-8637-01A-11D-2396-08	8918975	79279655	75990905	179	1887											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000263033.5_Missense_Mutation_p.R89W|SYTL4_ENST00000276141.6_Missense_Mutation_p.R89W|SYTL4_ENST00000372989.1_Missense_Mutation_p.R89W|SYTL4_ENST00000455616.1_Missense_Mutation_p.R89W|SYTL4_ENST00000454200.2_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													153	820					0	0	1	0	0	A	99956515	G	A	99956515	3	1	18	1	0	0	0	0	1	0	0	0	15542	1057	37	1	1810	1	SYTL4	23	99956515	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	20676860	99956515	55314045	180	1888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538510.1_Missense_Mutation_p.F578S|DRP2_ENST00000402866.1_Missense_Mutation_p.F578S|DRP2_ENST00000541709.1_Missense_Mutation_p.F500S	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													33	1198					0	0	1	0	0	C	100505940	T	C	100505940	3	2	18	1	0	0	0	0	1	0	0	0	4790	1783	62	3	1787	3	DRP2	23	100505940	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	549425	100505940	54764620	181	1889											
RNF128	79589	broad.mit.edu	37	chrX	105937255	105937256	+	Frame_Shift_Ins	INS	-	-	T													aaccaggagaataggtccagINSttttttttggctccttgtaa							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:105937255_105937256insT	ENST00000324342.3	+	1	188_189	c.23_24insT	c.(22-24)attfs	p.I8fs		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	0						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						AATAGGTCCAGTTTTTTTTGGC	0.347													8	474	---	---	---	---						T	105937256	-	T	105937255	7	5	18	1	0	1	1	0	0	0	0	0	13488	1029	36	0	25	0	RNF128	23	105937255	Frame_Shift_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08	5431315	105937255	49333305	182	1890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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		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													54	562					0	0	1	0	0	G	107979420	C	G	107979420	3	3	18	1	0	0	0	0	1	0	0	0	7886	855	30	5	3622	5	IRS4	23	107979420	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	2042165	107979420	47291140	183	1891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP1-136J15.3_ENST00000439581.1_RNA	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													6	146					0	0	1	0	0	T	108868206	C	T	108868206	3	4	18	1	0	0	0	0	1	0	0	0	8066	768	27	1	388	1	KCNE1L	23	108868206	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	888786	108868206	46402354	184	1892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	3209					0.0135373	0.013788	1	1	0	T	110494868	G	T	110494868	3	4	18	1	0	0	0	0	1	0	0	0	2648	1029	36	2	1155	2	CAPN6	23	110494868	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	1626662	110494868	44775692	185	1893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Silent_p.Q162Q|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													7	431					0	0	1	0	0	T	112058796	C	T	112058796	2	4	18	1	0	0	0	0	0	0	0	1	578	796	28	2		2	AMOT	23	112058796	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	1563928	112058796	43211764	186	1894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	1455					0	0	1	0	0	A	119005896	G	A	119005896	3	1	18	1	0	0	0	0	1	0	0	0	10306	1117	39	1	24	1	NDUFA1	23	119005896	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	6947100	119005896	36264664	187	1895											
CUL4B	8450	broad.mit.edu	37	chrX	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-													ttgcagcagttggtgaagatGaggaggaggaggaggaggat							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:119694117_119694119delGAG	ENST00000371322.5	-	1	436_438	c.375_377delCTC	c.(373-378)tca>tc	p.SS127del	CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	145	Ser-rich.				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						TGGTGAAGATgaggaggaggagg	0.488													12	581	---	---	---	---						-	119694119	GAG	-	119694117	7	5	18	1	0	1	0	1	0	0	0	0	4081	1294	45	0	2390	0	CUL4B	23	119694117	In_Frame_Del	DEL	GAG	TCGA-HZ-8637-01A-11D-2396-08	688221	119694117	35576443	188	1896											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													184	768					0	0	1	0	0	A	132351106	G	A	132351106	2	1	18	1	0	0	0	0	0	0	0	1	15859	1136	40	1		1	TFDP3	23	132351106	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	12656989	132351106	22919454	189	1897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	964					0	0	1	0	0	A	142967510	G	A	142967510	3	1	18	1	0	0	0	0	1	0	0	0	16928	1087	38	1	310	1	UBE2NL	23	142967510	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	10616404	142967510	12303050	190	1898											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000426613.2_Silent_p.Q577Q|MAMLD1_ENST00000262858.5_Silent_p.Q602Q|MAMLD1_ENST00000432680.2_Silent_p.Q577Q|MAMLD1_ENST00000455522.2_Silent_p.Q83Q			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													6	1007					0	0	1	0	0	G	149639651	A	G	149639651	2	3	18	1	0	0	0	0	0	0	0	1	9258	40	2	3		3	MAMLD1	23	149639651	Silent	SNP	A	TCGA-HZ-8637-01A-11D-2396-08	6672141	149639651	5630909	191	1899											
CD99L2	83692	broad.mit.edu	37	chrX	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-													ctcagatccgggctggttcgGgcggcggcggcggctctgca					rs7877654	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccc>cc	p.PP256del	CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				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)					GGCTGGTTCGGGCGGCGGCGGCG	0.611													24	1742	---	---	---	---						-	149937528	GGC	-	149937526	7	5	18	1	0	1	0	1	0	0	0	0	3073	1232	43	0	22	0	CD99L2	23	149937526	In_Frame_Del	DEL	GGC	TCGA-HZ-8637-01A-11D-2396-08	297875	149937526	5333034	192	1900											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													13	566					0	0	1	0	0	A	150156360	G	A	150156360	2	1	18	1	0	0	0	0	0	0	0	1	7268	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	218834	150156360	5114200	193	1901											
GABRE	2564	broad.mit.edu	37	chrX	151138810	151138810	+	Frame_Shift_Del	DEL	G	G	-													attttccagaggctggggctGggggccatagacaacatcac							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:151138810delG	ENST00000370325.1	-	2	174	c.121delC	c.(121-123)agfs	p.Q41fs	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Frame_Shift_Del_p.Q41fs			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	41					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)					GGCTGGGGCTGGGGGCCATAG	0.512													8	1920	---	---	---	---						-	151138810	G	-	151138810	7	5	18	1	0	1	0	1	0	0	0	0	6205	1357	47	0	1431	0	GABRE	23	151138810	Frame_Shift_Del	DEL	G	TCGA-HZ-8637-01A-11D-2396-08	982450	151138810	4131750	194	1902											
PNMA3	29944	broad.mit.edu	37	chrX	152225996	152225997	+	Frame_Shift_Ins	INS	-	-	G													gagatgctacagatgtggcaINSggtgcccgagggggaaaaga							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:152225996_152225997insG	ENST00000447306.1	+	2	920_921	c.584_585insG	c.(583-585)cgtfs	p.R195fs	PNMA3_ENST00000370264.4_Frame_Shift_Ins_p.R195fs|PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.R195fs	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	195					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					cagatgtggcaggtgcccgagg	0.574													11	1297	---	---	---	---						G	152225997	-	G	152225996	7	5	18	1	0	1	1	0	0	0	0	0	12203	188	7	0	586	0	PNMA3	23	152225996	Frame_Shift_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08	1087186	152225996	3044564	195	1903	18	2									
PNMA3	29944	broad.mit.edu	37	chrX	152226003	152226004	+	Frame_Shift_Ins	INS	-	-	G													tacagatgtggcaggtgcccINSgagggggaaaagaggcggag							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:152226003_152226004insG	ENST00000447306.1	+	2	927_928	c.591_592insG	c.(589-594)ccagggfs	p.G198fs	PNMA3_ENST00000370264.4_Frame_Shift_Ins_p.G198fs|PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.G198fs	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	198					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ggcaggtgcccgagggggaaaa	0.574													9	1169	---	---	---	---						G	152226004	-	G	152226003	7	5	18	1	0	1	1	0	0	0	0	0	12203	639	23	0	593	0	PNMA3	23	152226003	Frame_Shift_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08	7	152226003	3044557	196	1904	18	2									
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544474.1_Missense_Mutation_p.V280I|PDZD4_ENST00000393758.2_Missense_Mutation_p.V314I	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													18	346					0	0	1	0	0	T	153069953	C	T	153069953	3	4	18	1	0	0	0	0	1	0	0	0	11750	536	19	1	1148	1	PDZD4	23	153069953	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	843950	153069953	2200607	197	1905											
IL9R	3581	broad.mit.edu	37	chrX	155239799	155239801	+	In_Frame_Del	DEL	AGC	AGC	-													cagactcagagggcagcaggAgcagcagcagcagcagcagc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:155239799_155239801delAGC	ENST00000424344.3	+	10	1595_1597	c.1228_1230delAGC	c.(1228-1230)del	p.S417del	IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000244174.5_In_Frame_Del_p.S438del|IL9R_ENST00000369423.2_3'UTR			Q01113	IL9R_HUMAN	interleukin 9 receptor	438					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)					GGgcagcaggagcagcagcagca	0.621													8	218	---	---	---	---						-	155239801	AGC	-	155239799	7	5	18	1	0	1	0	1	0	0	0	0	7752	304	11	0	1325	0	IL9R	23	155239799	In_Frame_Del	DEL	AGC	TCGA-HZ-8637-01A-11D-2396-08	2169846	155239799	30761	198	1906											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537142.1_Missense_Mutation_p.G538W|ZBTB17_ENST00000375743.4_Missense_Mutation_p.G620W			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													25	213					2.41591e-17	2.66757e-17	1	1	0	A	16269204	C	A	16269204	3	1	19	1	0	0	0	0	1	0	0	0	17586	594	21	2	565	2	ZBTB17	1	16269204	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		16269204	232981417	1	1907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	38					0	0	1	0	0	A	22928191	G	A	22928191	3	1	19	1	0	0	0	0	1	0	0	0	5201	1116	39	1	3214	1	EPHA8	1	22928191	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	6658987	22928191	226322430	2	1908											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	397					0	0	1	0	0	T	37947235	A	T	37947235	3	4	19	1	0	0	0	0	1	0	0	0	17620	72	3	5	627	5	ZC3H12A	1	37947235	Missense_Mutation	SNP	A	TCGA-HZ-A49I-01A-12D-A26I-08	15019044	37947235	211303386	3	1909											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000567887.1_Silent_p.P7497P|MACF1_ENST00000539005.1_Silent_p.P5205P|MACF1_ENST00000545844.1_Silent_p.P5335P|MACF1_ENST00000361689.2_Silent_p.P5335P|MACF1_ENST00000289893.4_Silent_p.P5843P|MACF1_ENST00000372915.3_Silent_p.P7293P|MACF1_ENST00000317713.7_Silent_p.P5335P			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													106	561					0	0	1	0	0	A	39950371	G	A	39950371	2	1	19	1	0	0	0	0	0	0	0	1	9190	1103	39	1		1	MACF1	1	39950371	Silent	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	2003136	39950371	209300250	4	1910											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	451					0	0	1	0	0	T	86372901	C	T	86372901	2	4	19	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	1911											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	50					0	0	1	0	0	A	112046027	G	A	112046027	1	1	19	1	0	0	0	0	0	0	0	0	328	1160	40	1		1	ADORA3	1	112046027	Translation_Start_Site	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	25673126	112046027	137204594	6	1912											
TSPAN2	10100	broad.mit.edu	37	chr1	115601537	115601537	+	Frame_Shift_Del	DEL	T	T	-													gtgatgagtgtcccattgccTtttcccctgtctttaaggta							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:115601537delT	ENST00000369516.2	-	5	442	c.411delA	c.(409-411)aafs	p.K137fs	TSPAN2_ENST00000369515.2_Frame_Shift_Del_p.K112fs|TSPAN2_ENST00000369514.2_Frame_Shift_Del_p.K137fs	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	137						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)		TCCCATTGCCTTTTCCCCTGT	0.418													7	1172	---	---	---	---						-	115601537	T	-	115601537	7	5	19	1	0	1	0	1	0	0	0	0	16705	1606	56	0	270	0	TSPAN2	1	115601537	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	3555510	115601537	133649084	7	1913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368284.1_Intron|SEMA4A_ENST00000368286.2_Intron|SEMA4A_ENST00000355014.2_Silent_p.C142C|SEMA4A_ENST00000487358.1_3'UTR	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													149	787					0	0	1	0	0	T	156128241	C	T	156128241	2	4	19	1	0	0	0	0	0	0	0	1	14085	776	27	1		1	SEMA4A	1	156128241	Silent	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	40526704	156128241	93122380	8	1914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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		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													31	226					0	0	1	0	0	G	161495096	T	G	161495096	2	3	19	1	0	0	0	0	0	0	0	1	7458	1567	55	3		3	HSPA6	1	161495096	Silent	SNP	T	TCGA-HZ-A49I-01A-12D-A26I-08	5366855	161495096	87755525	9	1915											
FAM5B	0	broad.mit.edu	37	chr1	177199125	177199125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggctgtctcagccacggCggctgctgtggtccccgagc	15	14	1	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:177199125C>T	ENST00000361539.4	+	2	425	c.113C>T	c.(112-114)gCg>gTg	p.A38V		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		38						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						TCAGCCACGGCGGCTGCTGTG	0.687													52	314					0	0	1	0	0	T	177199125	C	T	177199125	3	4	19	1	0	0	0	0	1	0	0	0	5628	768	27	1	115	1	FAM5B	1	177199125	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	15704029	177199125	72051496	10	1916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	215					0	0	1	0	0	A	180063129	G	A	180063129	3	1	19	1	0	0	0	0	1	0	0	0	3276	1029	36	2	8019	2	CEP350	1	180063129	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	2864004	180063129	69187492	11	1917											
APOBEC4	403314	broad.mit.edu	37	chr1	183616826	183616828	+	In_Frame_Del	DEL	TTC	TTC	-													gtagattttatttcttccctTtcttcttcttcttttcatct					rs141411396		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:183616826_183616828delTTC	ENST00000308641.4	-	2	1360_1362	c.1089_1091delGAA	c.(1087-1092)aaa>aa	p.KK363del	APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000304685.3_Intron|RGL1_ENST00000367531.1_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	363					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTCTTCCCTTTCTTCTTCTTCT	0.419													7	1174	---	---	---	---						-	183616828	TTC	-	183616826	7	5	19	1	0	1	0	1	0	0	0	0	793	1841	64	0	16	0	APOBEC4	1	183616826	In_Frame_Del	DEL	TTC	TCGA-HZ-A49I-01A-12D-A26I-08	3553697	183616826	65633795	12	1918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000458541.2_Missense_Mutation_p.I684N|CR2_ENST00000367059.3_Missense_Mutation_p.I711N|CR2_ENST00000367058.3_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													18	520					0	0	1	0	0	A	207647654	T	A	207647654	3	1	19	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	24030828	207647654	41602967	13	1919											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													265	1150					0	0	1	0	0	G	207867914	C	G	207867914	3	3	19	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	14	1920											
RHOU	58480	broad.mit.edu	37	chr1	228879333	228879333	+	Frame_Shift_Del	DEL	A	A	-													cgagtgttcagccttgactcAaaaaaacctcaaagaggtct							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:228879333delA	ENST00000366691.3	+	3	1289	c.623delA	c.(622-624)cafs	p.Q208fs		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	208					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				GCCTTGACTCAAAAAAACCTC	0.493													7	848	---	---	---	---						-	228879333	A	-	228879333	7	5	19	1	0	1	0	1	0	0	0	0	13395	130	5	0	633	0	RHOU	1	228879333	Frame_Shift_Del	DEL	A	TCGA-HZ-A49I-01A-12D-A26I-08	21011419	228879333	20371288	15	1921											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													313	1485					0	0	1	0	0	T	248487356	C	T	248487356	3	4	19	1	0	0	0	0	1	0	0	0	11062	652	23	1	426	1	OR2M7	1	248487356	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	19608023	248487356	763265	16	1922											
SLC4A5	57835	broad.mit.edu	37	chr2	74452025	74452025	+	Frame_Shift_Del	DEL	T	T	-													tcctcttcttgtctgtctccTttttttccttctctgggagg							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:74452025delT	ENST00000394019.2	-	28	3585	c.3188delA	c.(3187-3189)agfs	p.K1063fs	SLC4A5_ENST00000423644.1_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_Frame_Shift_Del_p.K1079fs|SLC4A5_ENST00000377632.1_Frame_Shift_Del_p.K982fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Frame_Shift_Del_p.K1079fs|SLC4A5_ENST00000359484.4_Frame_Shift_Del_p.K961fs|SLC4A5_ENST00000358683.4_Frame_Shift_Del_p.K961fs|SLC4A5_ENST00000346834.4_Frame_Shift_Del_p.K982fs	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	1079						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						GTCTGTCTCCTTTTTTTCCTT	0.517													8	664	---	---	---	---						-	74452025	T	-	74452025	7	5	19	1	0	1	0	1	0	0	0	0	14712	1609	56	0	189	0	SLC4A5	2	74452025	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08		74452025	168747348	17	1923											
EIF5B	9669	broad.mit.edu	37	chr2	99977775	99977777	+	In_Frame_Del	DEL	TGA	TGA	-													gtggaaatgtactctgggagTgatgatgatgatgattttaa							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:99977775_99977777delTGA	ENST00000289371.5	+	4	613_615	c.411_413delTGA	c.(409-414)agt>ag	p.SD137del		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	137					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						ACTCTGGGAGTGATGATGATGAT	0.345													8	713	---	---	---	---						-	99977777	TGA	-	99977775	7	5	19	1	0	1	0	1	0	0	0	0	5072	1693	59	0	425	0	EIF5B	2	99977775	In_Frame_Del	DEL	TGA	TCGA-HZ-A49I-01A-12D-A26I-08	25525750	99977775	143221598	18	1924											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			81	431					0	0	1	0	0	A	141200116	G	A	141200116	2	1	19	1	0	0	0	0	0	0	0	1	9000	1136	40	1		1	LRP1B	2	141200116	Silent	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	41222341	141200116	101999257	19	1925											
RBM43	375287	broad.mit.edu	37	chr2	152112047	152112048	+	Splice_Site	INS	-	-	T													aaatttgacttggaaataccINSttttttttctttgaatatta							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:152112047_152112048insT	ENST00000331426.5	-	2	364_365	c.214_splice	c.e2+1	p.NC71_splice		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	71	RRM.						nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTGGAAATACCTTTTTTTTCTT	0.287													7	864	---	---	---	---						T	152112048	-	T	152112047	8	5	19	1	0	1	1	0	0	0	1	0	13189	695	24	0	871	0	RBM43	2	152112047	Splice_Site	INS	-	TCGA-HZ-A49I-01A-12D-A26I-08	10911931	152112047	91087326	20	1926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6834Q|TTN_ENST00000591111.1_Missense_Mutation_p.P7761Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	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													9	82					0.00621372	0.00627289	1	1	0	T	179583694	G	T	179583694	3	4	19	1	0	0	0	0	1	0	0	0	16797	1348	47	2	80412	2	TTN	2	179583694	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	27471647	179583694	63615679	21	1927											
UGT1A4	0	broad.mit.edu	37	chr2	234627977	234627977	+	Frame_Shift_Del	DEL	T	T	-													acctgtcgattcctgctgtgTttttttggaggtacattcca							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:234627977delT	ENST00000373409.3	+	1	554	c.511delT	c.(511-513)ttfs	p.F172fs	UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_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)		TCCTGCTGTGTTTTTTTGGAG	0.458													7	1219	---	---	---	---						-	234627977	T	-	234627977	7	5	19	1	0	1	0	1	0	0	0	0	17007	1725	60	0	513	0	UGT1A4	2	234627977	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	55044283	234627977	8571396	22	1928											
GRM7	2917	broad.mit.edu	37	chr3	7621012	7621013	+	Frame_Shift_Ins	INS	-	-	T													atggcttgccttcattccaaINSttttttttggcaccgctcaa							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:7621012_7621013insT	ENST00000486284.1	+	8	2693_2694	c.2419_2420insT	c.(2419-2421)tttfs	p.F807fs	GRM7_ENST00000389336.4_Frame_Shift_Ins_p.F807fs|GRM7_ENST00000402647.2_Frame_Shift_Ins_p.F807fs|GRM7_ENST00000357716.4_Frame_Shift_Ins_p.F807fs|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Frame_Shift_Ins_p.F807fs	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	807					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)	CTTCATTCCAATTTTTTTTGGC	0.381													8	223	---	---	---	---						T	7621013	-	T	7621012	7	5	19	1	0	1	1	0	0	0	0	0	6843	101	4	0	2449	0	GRM7	3	7621012	Frame_Shift_Ins	INS	-	TCGA-HZ-A49I-01A-12D-A26I-08		7621012	190401418	23	1929											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000419585.1_Missense_Mutation_p.P672L|FANCD2_ENST00000383807.1_Missense_Mutation_p.P672L|FANCD2_ENST00000383806.1_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				39	730					0	0	1	0	0	T	10106107	C	T	10106107	3	4	19	1	0	0	0	0	1	0	0	0	5698	652	23	1	2097	1	FANCD2	3	10106107	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	2485095	10106107	187916323	24	1930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	136					0	0	1	0	0	A	27346443	G	A	27346443	3	1	19	1	0	0	0	0	1	0	0	0	10369	1087	38	1	1367	1	NEK10	3	27346443	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	17240336	27346443	170675987	25	1931											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	448					0	0	1	0	0	T	45817325	C	T	45817325	2	4	19	1	0	0	0	0	0	0	0	1	14739	639	23	1		1	SLC6A20	3	45817325	Silent	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	18470882	45817325	152205105	26	1932											
PIK3CB	5291	broad.mit.edu	37	chr3	138413710	138413710	+	Frame_Shift_Del	DEL	G	G	-													cagaagctctagggcctcccGggggggcagtttaggccaaa							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:138413710delG	ENST00000477593.1	-	13	1883	c.1810delC	c.(1810-1812)ggfs	p.R604fs	PIK3CB_ENST00000544716.1_Frame_Shift_Del_p.R50fs|PIK3CB_ENST00000289153.2_Frame_Shift_Del_p.R604fs			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	604	PI3K helical.				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						AGGGCCTCCCGGGGGGGCAGT	0.468													8	643	---	---	---	---						-	138413710	G	-	138413710	7	5	19	1	0	1	0	1	0	0	0	0	11962	1115	39	0	1444	0	PIK3CB	3	138413710	Frame_Shift_Del	DEL	G	TCGA-HZ-A49I-01A-12D-A26I-08	92596385	138413710	59608720	27	1933											
RNF168	165918	broad.mit.edu	37	chr3	196214353	196214353	+	Frame_Shift_Del	DEL	T	T	-													tcgccttttttctgcctgtcTtttttcctcttcttcctcct							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:196214353delT	ENST00000318037.3	-	3	1069	c.475delA	c.(475-477)gafs	p.R159fs		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	159	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)		TCTGCCTGTCTTTTTTCCTCT	0.458													9	1642	---	---	---	---						-	196214353	T	-	196214353	7	5	19	1	0	1	0	1	0	0	0	0	13511	1617	56	0	1256	0	RNF168	3	196214353	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	57800643	196214353	1808077	28	1934											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000302174.4_Missense_Mutation_p.N185K|NUDT9_ENST00000515371.1_3'UTR	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													77	198					0	0	1	0	0	A	88370318	T	A	88370318	3	1	19	1	0	0	0	0	1	0	0	0	10794	1403	49	5	573	5	NUDT9	4	88370318	Missense_Mutation	SNP	T	TCGA-HZ-A49I-01A-12D-A26I-08		88370318	102783958	29	1935											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	444					0	0	1	0	0	A	185033945	G	A	185033945	2	1	19	1	0	0	0	0	0	0	0	1	5162	1310	46	2		2	ENPP6	4	185033945	Silent	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	96663627	185033945	6120331	30	1936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000280285.5_Missense_Mutation_p.P467S|MTMR12_ENST00000264934.5_Intron	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													8	268					0	0	1	0	0	A	32235181	G	A	32235181	3	1	19	1	0	0	0	0	1	0	0	0	9989	1174	41	2	856	2	MTMR12	5	32235181	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08		32235181	148680079	31	1937											
FGF10	2255	broad.mit.edu	37	chr5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-													caccaagaacagcaacaaaaAgcagcagcagcagcagccgg							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr5:44388715_44388717delAGC	ENST00000264664.4	-	1	182_184	c.68_70delGCT	c.(67-72)ttt>t	p.CF23del		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	23					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)					AGCAACAAAAAGCAGCAGCAGCA	0.537													13	435	---	---	---	---						-	44388717	AGC	-	44388715	7	5	19	1	0	1	0	1	0	0	0	0	5872	72	3	0	568	0	FGF10	5	44388715	In_Frame_Del	DEL	AGC	TCGA-HZ-A49I-01A-12D-A26I-08	12153534	44388715	136526545	32	1938											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	238					0	0	1	0	0	T	52235424	C	T	52235424	3	4	19	1	0	0	0	0	1	0	0	0	7916	710	25	2	3181	2	ITGA1	5	52235424	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	7846709	52235424	128679836	33	1939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	183					0	0	1	0	0	T	22292852	C	T	22292852	3	4	19	1	0	0	0	0	1	0	0	0	12580	652	23	1	468	1	PRL	6	22292852	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		22292852	148822215	34	1940											
ZNF184	7738	broad.mit.edu	37	chr6	27420810	27420810	+	Frame_Shift_Del	DEL	T	T	-													aattcattatttacagggccTttttcccaactgggtattgt							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr6:27420810delT	ENST00000211936.6	-	6	812	c.528delA	c.(526-528)aafs	p.K176fs	ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	176					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						TTACAGGGCCTTTTTCCCAAC	0.408													9	1716	---	---	---	---						-	27420810	T	-	27420810	7	5	19	1	0	1	0	1	0	0	0	0	17809	1606	56	0	1731	0	ZNF184	6	27420810	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	5127958	27420810	143694257	35	1941											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34826124	34826124	+	Frame_Shift_Del	DEL	T	T	-													ctttagccttctgcacatgcTttttttgcatcatgcctttc							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr6:34826124delT	ENST00000192788.5	+	14	2162	c.1991delT	c.(1990-1992)ctfs	p.L664fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.L664fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	664								p.L666fs*15(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTGCACATGCTTTTTTTGCAT	0.502													7	690	---	---	---	---						-	34826124	T	-	34826124	7	5	19	1	0	1	0	1	0	0	0	0	17028	1609	56	0	2045	0	UHRF1BP1	6	34826124	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	7405314	34826124	136288943	36	1942											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Silent_p.P89P|BACH2_ENST00000537989.1_Silent_p.P89P	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													8	280					0	0	1	0	0	T	90661558	C	T	90661558	2	4	19	1	0	0	0	0	0	0	0	1	1282	755	27	1		1	BACH2	6	90661558	Silent	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	55835434	90661558	80453509	37	1943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													144	811					0	0	1	0	0	A	26883668	G	A	26883668	1	1	19	1	0	0	0	0	0	0	0	0	14411	1136	40	1		1	SKAP2	7	26883668	Translation_Start_Site	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08		26883668	132254995	38	1944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396259.1_Missense_Mutation_p.C295G|PLEKHA8_ENST00000258679.7_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													102	548					0	0	1	0	0	G	30094411	T	G	30094411	3	3	19	1	0	0	0	0	1	0	0	0	12110	1812	63	3	913	3	PLEKHA8	7	30094411	Missense_Mutation	SNP	T	TCGA-HZ-A49I-01A-12D-A26I-08	3210743	30094411	129044252	39	1945											
MFHAS1	9258	broad.mit.edu	37	chr8	8749703	8749703	+	Frame_Shift_Del	DEL	G	G	-													ccaggggcagcagcgcggcaGggaactcctcgaagaggttg							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:8749703delG	ENST00000276282.6	-	1	1452	c.866delC	c.(865-867)ctfs	p.P289fs		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	289										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)		CAGCGCGGCAGGGAACTCCTC	0.627													55	229	---	---	---	---						-	8749703	G	-	8749703	7	5	19	1	0	1	0	1	0	0	0	0	9571	1000	35	0	2304	0	MFHAS1	8	8749703	Frame_Shift_Del	DEL	G	TCGA-HZ-A49I-01A-12D-A26I-08		8749703	137614319	40	1946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	324					0	0	1	0	0	G	10470187	C	G	10470187	3	3	19	1	0	0	0	0	1	0	0	0	13585	681	24	5	5785	5	RP1L1	8	10470187	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	1720484	10470187	135893835	41	1947											
WHSC1L1	54904	broad.mit.edu	37	chr8	38205092	38205092	+	Frame_Shift_Del	DEL	T	T	-													tgatgagtcatgcttgttgcTttttttcctcttttcttttc							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:38205092delT	ENST00000317025.8	-	2	1115	c.598delA	c.(598-600)gcfs	p.S200fs	WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	200					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)			TGCTTGTTGCTTTTTTTCCTC	0.378			T	NUP98	AML								7	1026	---	---	---	---						-	38205092	T	-	38205092	7	5	19	1	0	1	0	1	0	0	0	0	17423	1609	56	0	3894	0	WHSC1L1	8	38205092	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	27734905	38205092	108158930	42	1948											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)cat>c	p.HY307del	OTUD6B_ENST00000404789.3_In_Frame_Del_p.HY176del	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	277										endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			TTAGGAGAACATTATAATTCGGT	0.276													17	76	---	---	---	---						-	92097046	ATT	-	92097044	7	5	19	1	0	1	0	1	0	0	0	0	11364	217	8	0	946	0	OTUD6B	8	92097044	In_Frame_Del	DEL	ATT	TCGA-HZ-A49I-01A-12D-A26I-08	53891952	92097044	54266978	43	1949											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	618					1.15088e-07	1.20785e-07	1	1	0	T	100861089	G	T	100861089	3	4	19	1	0	0	0	0	1	0	0	0	17250	1174	41	2	10511	2	VPS13B	8	100861089	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	8764045	100861089	45502933	44	1950											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000345136.3_Missense_Mutation_p.A3969V|PLEC_ENST00000398774.2_Missense_Mutation_p.A3937V|PLEC_ENST00000354589.3_Missense_Mutation_p.A3969V|PLEC_ENST00000357649.2_Missense_Mutation_p.A3973V|PLEC_ENST00000436759.2_Missense_Mutation_p.A3996V|PLEC_ENST00000354958.2_Missense_Mutation_p.A3947V|PLEC_ENST00000356346.3_Missense_Mutation_p.A3955V|PLEC_ENST00000527096.1_Missense_Mutation_p.A3992V	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													27	163					0	0	1	0	0	A	144992083	G	A	144992083	3	1	19	1	0	0	0	0	1	0	0	0	12100	1087	38	1	1741	1	PLEC	8	144992083	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	44130994	144992083	1371939	45	1951											
HNRNPK	3190	broad.mit.edu	37	chr9	86586806	86586808	+	In_Frame_Del	DEL	GGT	GGT	-													aaacaacttacccccctctaGgtggtggtggtggaggaaga							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr9:86586806_86586808delGGT	ENST00000376263.3	-	11	1165_1167	c.942_944delACC	c.(940-945)cct>cc	p.PP314del	HNRNPK_ENST00000351839.3_In_Frame_Del_p.PP314del|HNRNPK_ENST00000360384.5_In_Frame_Del_p.PP314del|HNRNPK_ENST00000376281.4_In_Frame_Del_p.PP314del|HNRNPK_ENST00000376264.2_In_Frame_Del_p.PP314del	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	314	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						CCCCCCTCTAGGTGGTGGTGGTG	0.522													9	670	---	---	---	---						-	86586808	GGT	-	86586806	7	5	19	1	0	1	0	1	0	0	0	0	7310	1000	35	0	513	0	HNRNPK	9	86586806	In_Frame_Del	DEL	GGT	TCGA-HZ-A49I-01A-12D-A26I-08		86586806	54626625	46	1952											
NFIL3	4783	broad.mit.edu	37	chr9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-													agcttcattatttttccgccTtttttcccaatacatagcat							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)ggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81					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						TTTTTCCGCCTTTTTTCCCAA	0.423													9	1848	---	---	---	---						-	94172779	T	-	94172779	7	5	19	1	0	1	0	1	0	0	0	0	10420	1608	56	0	1154	0	NFIL3	9	94172779	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	7585973	94172779	47040652	47	1953											
RAB14	51552	broad.mit.edu	37	chr9	123954450	123954450	+	Splice_Site	DEL	T	T	-													cctcatgtattgaacttacaTtttttttctgtaaattgatg							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr9:123954450delT	ENST00000373840.4	-	3	342	c.106_splice	c.e3+1	p.K35_splice		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	35					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						TGAACTTACATTTTTTTTCTG	0.294													7	579	---	---	---	---						-	123954450	T	-	123954450	8	5	19	1	0	1	0	1	0	0	1	0	12952	1507	52	0	566	0	RAB14	9	123954450	Splice_Site	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	29781671	123954450	17258981	48	1954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373584.3_Nonsense_Mutation_p.R54*|NR6A1_ENST00000344523.4_Nonsense_Mutation_p.R58*|NR6A1_ENST00000416460.2_Nonsense_Mutation_p.R54*	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													82	357					0	0	1	0	0	A	127316820	G	A	127316820	4	1	19	1	0	0	0	0	0	1	0	0	10685	1153	40	1	1302	1	NR6A1	9	127316820	Nonsense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	3362370	127316820	13896611	49	1955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	232					2.40228e-13	2.59838e-13	1	1	0	A	17026279	C	A	17026279	5	1	19	1	0	0	0	0	0	0	1	0	4074	927	32	2	6673	2	CUBN	10	17026279	Splice_Site	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		17026279	118508468	50	1956											
STAM	8027	broad.mit.edu	37	chr10	17756616	17756618	+	In_Frame_Del	DEL	CTG	CTG	-													tagtcctcctcctgccgctaCtgctgctgctgcaactgccg							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:17756616_17756618delCTG	ENST00000377524.3	+	14	1675_1677	c.1460_1462delCTG	c.(1459-1464)act>a	p.TA487del	STAM_ENST00000540523.1_In_Frame_Del_p.TA376del	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	487					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						CCTGCCGCTACTGCTGCTGCTGC	0.493													7	653	---	---	---	---						-	17756618	CTG	-	17756616	7	5	19	1	0	1	0	1	0	0	0	0	15304	565	20	0	1514	0	STAM	10	17756616	In_Frame_Del	DEL	CTG	TCGA-HZ-A49I-01A-12D-A26I-08	730337	17756616	117778131	51	1957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)cgfs	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													43	507	---	---	---	---						-	18961595	ACTAGCT	-	18961589	7	5	19	1	0	1	0	1	0	0	0	0	939	262	10	0	308	0	ARL5B	10	18961589	Frame_Shift_Del	DEL	ACTAGCT	TCGA-HZ-A49I-01A-12D-A26I-08	1204973	18961589	116573158	52	1958											
ANKRD26	22852	broad.mit.edu	37	chr10	27337806	27337808	+	In_Frame_Del	DEL	CAT	CAT	-													ctttcttttttgaattaatcCatcatcatcatcatcatctt							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:27337806_27337808delCAT	ENST00000376087.4	-	17	1901_1903	c.1736_1738delATG	c.(1735-1740)gga>g	p.DG579del	ANKRD26_ENST00000376070.3_In_Frame_Del_p.DG136del|ANKRD26_ENST00000436985.2_In_Frame_Del_p.DG595del	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	579	Poly-Asp.					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						TGAATTAATCcatcatcatcatc	0.345													7	299	---	---	---	---						-	27337808	CAT	-	27337806	7	5	19	1	0	1	0	1	0	0	0	0	650	603	21	0	3466	0	ANKRD26	10	27337806	In_Frame_Del	DEL	CAT	TCGA-HZ-A49I-01A-12D-A26I-08	8376217	27337806	108196941	53	1959											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396144.4_Silent_p.E321E|ARHGAP12_ENST00000344936.2_Silent_p.E321E|ARHGAP12_ENST00000311380.4_Intron|ARHGAP12_ENST00000375245.4_Intron	NM_001270696.1	NP_001257625.1	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													73	296					0	0	1	0	0	C	32143120	T	C	32143120	2	2	19	1	0	0	0	0	0	0	0	1	862	1606	56	3		3	ARHGAP12	10	32143120	Silent	SNP	T	TCGA-HZ-A49I-01A-12D-A26I-08	4805314	32143120	103391627	54	1960											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394890.2_Missense_Mutation_p.D354H|P4HA1_ENST00000263556.3_Missense_Mutation_p.D354H|P4HA1_ENST00000307116.2_Missense_Mutation_p.D354H|P4HA1_ENST00000373008.2_Missense_Mutation_p.D354H|P4HA1_ENST00000440381.1_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													17	670					0	0	1	0	0	G	74806700	C	G	74806700	3	3	19	1	0	0	0	0	1	0	0	0	11403	913	32	5	651	5	P4HA1	10	74806700	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	42663580	74806700	60728047	55	1961											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			90	370					0	0	1	0	0	A	87628834	G	A	87628834	3	1	19	1	0	0	0	0	1	0	0	0	6812	1145	40	1	2189	1	GRID1	10	87628834	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	12822134	87628834	47905913	56	1962											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	515					0	0	1	0	0	A	98145915	G	A	98145915	3	1	19	1	0	0	0	0	1	0	0	0	16006	1116	39	1	1165	1	TLL2	10	98145915	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	10517081	98145915	37388832	57	1963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002779.3	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													74	326					0	0	1	0	0	T	104173704	C	T	104173704	3	4	19	1	0	0	0	0	1	0	0	0	12695	768	27	1	1751	1	PSD	10	104173704	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	6027789	104173704	31361043	58	1964											
GDPD4	220032	broad.mit.edu	37	chr11	76928312	76928315	+	Splice_Site	DEL	ATCT	ATCT	-													ggtttcatggctatgtgcaaAtctatctatctatctatctt							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr11:76928312_76928315delATCT	ENST00000376217.2	-	17	1791_1792	c.1540_splice	c.e17-1	p.514_splice	GDPD4_ENST00000315938.4_3'UTR			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	514					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						CTATGTGCAAatctatctatctat	0.471													13	516	---	---	---	---						-	76928315	ATCT	-	76928312	8	5	19	1	0	1	0	1	0	0	1	0	6368	116	4	0		0	GDPD4	11	76928312	Splice_Site	DEL	ATCT	TCGA-HZ-A49I-01A-12D-A26I-08		76928312	58078204	59	1965											
SYTL2	54843	broad.mit.edu	37	chr11	85437269	85437269	+	Frame_Shift_Del	DEL	T	T	-													atttcctctcttgccataacTttttttgggcttagaagcac							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr11:85437269delT	ENST00000359152.5	-	1	1802	c.1803delA	c.(1801-1803)aafs	p.K601fs	SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000354566.3_Frame_Shift_Del_p.K77fs|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	113	Ser-rich.				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)		TTGCCATAACTTTTTTTGGGC	0.373													7	807	---	---	---	---						-	85437269	T	-	85437269	7	5	19	1	0	1	0	1	0	0	0	0	15540	1606	56	0	3639	0	SYTL2	11	85437269	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	8508957	85437269	49569247	60	1966											
FOLH1B	219595	broad.mit.edu	37	chr11	89391931	89391932	+	RNA	INS	-	-	T													ggtaaggtaaaaattatctcINSttttttttctctcccccaat							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr11:89391931_89391932insT	ENST00000532352.1	+	0	528							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						AAAATTATCTCTTTTTTTTCTC	0.292													25	179	---	---	---	---						T	89391932	-	T	89391931	6	5	19	0	1	1	1	0	0	0	0	0	6013	928	32	0		0	FOLH1B	11	89391931	RNA	INS	-	TCGA-HZ-A49I-01A-12D-A26I-08	3954662	89391931	45614585	61	1967											
FOLH1B	219595	broad.mit.edu	37	chr11	89405323	89405326	+	RNA	DEL	TTTA	TTTA	-													ttggttggttaattatattgTttatttatttttgcatttat					rs34562444		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr11:89405323_89405326delTTTA	ENST00000532352.1	+	0	1114							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						aattatattgtttatttatttttg	0.23													13	25	---	---	---	---						-	89405326	TTTA	-	89405323	6	5	19	0	1	1	0	1	0	0	0	0	6013	1740	60	0		0	FOLH1B	11	89405323	RNA	DEL	TTTA	TCGA-HZ-A49I-01A-12D-A26I-08	13392	89405323	45601193	62	1968											
FOLH1B	219595	broad.mit.edu	37	chr11	89407177	89407177	+	RNA	DEL	C	C	-													tcaatgacttttttttttttCcccaatctgggcttggtagt							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr11:89407177delC	ENST00000532352.1	+	0	1114							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						TTTTTTTTTTCCCCAATCTGG	0.303													8	188	---	---	---	---						-	89407177	C	-	89407177	6	5	19	0	1	1	0	1	0	0	0	0	6013	870	30	0		0	FOLH1B	11	89407177	RNA	DEL	C	TCGA-HZ-A49I-01A-12D-A26I-08	1854	89407177	45599339	63	1969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000339772.7_Missense_Mutation_p.E613A|GLB1L2_ENST00000389881.3_Missense_Mutation_p.E613A|GLB1L2_ENST00000529077.1_3'UTR	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													21	103					0	0	1	0	0	C	134244879	A	C	134244879	3	2	19	1	0	0	0	0	1	0	0	0	6471	304	11	3	1912	3	GLB1L2	11	134244879	Missense_Mutation	SNP	A	TCGA-HZ-A49I-01A-12D-A26I-08	44837702	134244879	761637	64	1970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)			43	101					0	0	1	0	0	T	25398284	C	T	25398284	3	4	19	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		25398284	108453611	65	1971											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000299252.4_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000258149.5_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000350057.5_Missense_Mutation_p.H103D|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000258148.7_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_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"								44	247					0	0	1	0	0	G	69218184	C	G	69218184	3	3	19	1	0	0	0	0	1	0	0	0	9463	826	29	5	422	5	MDM2	12	69218184	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	43819900	69218184	64633711	66	1972											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	333					0	0	1	0	0	T	122999745	C	T	122999745	3	4	19	1	0	0	0	0	1	0	0	0	13767	913	32	2	692	2	RSRC2	12	122999745	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	53781561	122999745	10852150	67	1973											
ZMYM5	9205	broad.mit.edu	37	chr13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-													tatagattcaataaacacaaCatcatcatcatcatcatcat							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gtt>g	p.DV59del	ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					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)		ATAAACACAAcatcatcatcatc	0.379													8	578	---	---	---	---						-	20426145	CAT	-	20426143	7	5	19	1	0	1	0	1	0	0	0	0	17761	478	17	0	1966	0	ZMYM5	13	20426143	In_Frame_Del	DEL	CAT	TCGA-HZ-A49I-01A-12D-A26I-08		20426143	94743735	68	1974											
BRCA2	675	broad.mit.edu	37	chr13	32907421	32907421	+	Frame_Shift_Del	DEL	A	A	-													gatgaaacatcttataaaggAaaaaaaataccgaaagacca					rs80359307		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr13:32907421delA	ENST00000544455.1	+	10	2033	c.1806delA	c.(1804-1806)ggfs	p.G602fs	BRCA2_ENST00000380152.3_Frame_Shift_Del_p.G602fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	602					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)		CTTATAAAGGAAAAAAAATAC	0.303			"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)			8	386	---	---	---	---						-	32907421	A	-	32907421	7	5	19	1	0	1	0	1	0	0	0	0	1501	233	9	0	1840	0	BRCA2	13	32907421	Frame_Shift_Del	DEL	A	TCGA-HZ-A49I-01A-12D-A26I-08	12481278	32907421	82262457	69	1975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_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													88	416					0	0	1	0	0	G	99947840	A	G	99947840	3	3	19	1	0	0	0	0	1	0	0	0	6718	14	1	3	529	3	GPR183	13	99947840	Missense_Mutation	SNP	A	TCGA-HZ-A49I-01A-12D-A26I-08	67040419	99947840	15222038	70	1976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001747.2	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													61	257					0	0	1	0	0	T	94780770	C	T	94780770	3	4	19	1	0	0	0	0	1	0	0	0	14147	594	21	2	1017	2	SERPINA6	14	94780770	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		94780770	12568770	71	1977											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr16:3607671C>T	ENST00000301749.7	-	0	2427				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_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													20	110					0	0	1	0	0	T	3607671	C	T	3607671	1	4	19	0	1	0	0	0	0	0	0	0	10515	639	23	1		1	NLRC3	16	3607671	RNA	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		3607671	86747082	72	1978											
SALL1	6299	broad.mit.edu	37	chr16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-													gaggagctgccgccgccgccGctgctgctgctgctgctgct					rs13336129	byFrequency	TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr16:51175656_51175658delGCT	ENST00000440970.1	-	2	615_617	c.184_186delAGC	c.(184-186)del	p.S62del	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159					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	p.S159G(1)		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)			cgccgccgccgctgctgctgctg	0.631													10	331	---	---	---	---						-	51175658	GCT	-	51175656	7	5	19	1	0	1	0	1	0	0	0	0	13862	1078	38	0	3505	0	SALL1	16	51175656	In_Frame_Del	DEL	GCT	TCGA-HZ-A49I-01A-12D-A26I-08	47567985	51175656	39179097	73	1979											
ZFHX3	463	broad.mit.edu	37	chr16	72822009	72822011	+	In_Frame_Del	DEL	TGC	TGC	-													gctgctgctgctgcacttttTgctgctgctgctgctgtagt							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr16:72822009_72822011delTGC	ENST00000268489.5	-	10	10836_10838	c.10164_10166delGCA	c.(10162-10167)caa>ca	p.QQ3388del	ZFHX3_ENST00000397992.5_In_Frame_Del_p.QQ2474del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3388	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)				ctgcactttttgctgctgctgct	0.591													8	289	---	---	---	---						-	72822011	TGC	-	72822009	7	5	19	1	0	1	0	1	0	0	0	0	17692	1812	63	0	949	0	ZFHX3	16	72822009	In_Frame_Del	DEL	TGC	TCGA-HZ-A49I-01A-12D-A26I-08	21646353	72822009	17532744	74	1980											
ZFHX3	463	broad.mit.edu	37	chr16	72822586	72822586	+	Frame_Shift_Del	DEL	G	G	-													ctgctgctgctgctgctgctGggggggttgctgagggccca							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr16:72822586delG	ENST00000268489.5	-	10	10261	c.9589delC	c.(9589-9591)agfs	p.Q3204fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.Q2290fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3204	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)				tgctgctgctgGGGGGGTTGC	0.657													8	950	---	---	---	---						-	72822586	G	-	72822586	7	5	19	1	0	1	0	1	0	0	0	0	17692	1357	47	0	1526	0	ZFHX3	16	72822586	Frame_Shift_Del	DEL	G	TCGA-HZ-A49I-01A-12D-A26I-08	577	72822586	17532167	75	1981											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359597.4_Missense_Mutation_p.M246R|TP53_ENST00000269305.4_Missense_Mutation_p.M246R|TP53_ENST00000413465.2_Missense_Mutation_p.M246R|TP53_ENST00000445888.2_Missense_Mutation_p.M246R|TP53_ENST00000455263.2_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)			38	215					0	0	1	0	0	C	7577544	A	C	7577544	3	2	19	1	0	0	0	0	1	0	0	0	16442	217	8	3	553	3	TP53	17	7577544	Missense_Mutation	SNP	A	TCGA-HZ-A49I-01A-12D-A26I-08		7577544	73617666	76	1982											
SPAG9	9043	broad.mit.edu	37	chr17	49157025	49157025	+	Frame_Shift_Del	DEL	T	T	-													ccactcgggtctgtaagtccTttttttcctgttcttgagag							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr17:49157025delT	ENST00000262013.7	-	2	552	c.344delA	c.(343-345)agfs	p.K115fs	SPAG9_ENST00000357122.4_Frame_Shift_Del_p.K115fs|RP11-481C4.1_ENST00000509833.1_RNA|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.K115fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	115					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)			CTGTAAGTCCTTTTTTTCCTG	0.313													7	811	---	---	---	---						-	49157025	T	-	49157025	7	5	19	1	0	1	0	1	0	0	0	0	15041	1609	56	0	3737	0	SPAG9	17	49157025	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	41579481	49157025	32038185	77	1983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	703					2.35188e-11	2.51818e-11	1	1	0	T	73497867	G	T	73497867	2	4	19	1	0	0	0	0	0	0	0	1	2685	1103	39	4		4	CASKIN2	17	73497867	Silent	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	24340842	73497867	7697343	78	1984											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543082.1_Missense_Mutation_p.W320R|TCF4_ENST00000356073.4_Missense_Mutation_p.W362R|TCF4_ENST00000540999.1_Missense_Mutation_p.W338R|TCF4_ENST00000561831.3_Missense_Mutation_p.W202R|TCF4_ENST00000564228.1_Missense_Mutation_p.W291R|TCF4_ENST00000565018.2_Missense_Mutation_p.W362R|TCF4_ENST00000570287.2_Missense_Mutation_p.W202R|TCF4_ENST00000561992.1_Missense_Mutation_p.W232R|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000570177.2_Missense_Mutation_p.W232R|TCF4_ENST00000567880.1_Missense_Mutation_p.W302R|TCF4_ENST00000564403.2_Missense_Mutation_p.W368R|TCF4_ENST00000566279.1_Missense_Mutation_p.W302R|TCF4_ENST00000537856.3_Missense_Mutation_p.W232R|TCF4_ENST00000537578.1_Missense_Mutation_p.W338R|TCF4_ENST00000566286.1_Missense_Mutation_p.W359R|TCF4_ENST00000568740.1_Missense_Mutation_p.W337R|TCF4_ENST00000564999.1_Missense_Mutation_p.W362R|TCF4_ENST00000568673.1_Missense_Mutation_p.W338R|TCF4_ENST00000457482.3_Missense_Mutation_p.W202R|TCF4_ENST00000544241.2_Missense_Mutation_p.W291R|TCF4_ENST00000398339.1_Missense_Mutation_p.W464R	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													16	609					0	0	1	0	0	G	52924608	A	G	52924608	3	3	19	1	0	0	0	0	1	0	0	0	15755	130	5	3	955	3	TCF4	18	52924608	Missense_Mutation	SNP	A	TCGA-HZ-A49I-01A-12D-A26I-08		52924608	25152640	79	1985											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591230.1_Missense_Mutation_p.D25N|ZNF532_ENST00000591083.1_Missense_Mutation_p.D25N|ZNF532_ENST00000589288.1_Missense_Mutation_p.D25N|ZNF532_ENST00000591808.1_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													70	282					0	0	1	0	0	A	56585592	G	A	56585592	3	1	19	1	0	0	0	0	1	0	0	0	18029	1058	37	1	75	1	ZNF532	18	56585592	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	3660984	56585592	21491656	80	1986											
UBXN6	80700	broad.mit.edu	37	chr19	4454085	4454085	+	Frame_Shift_Del	DEL	T	T	-													tgggcttctctttgtgggccTtttccctgggaacagaccga							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:4454085delT	ENST00000301281.6	-	2	213	c.89delA	c.(88-90)agfs	p.K30fs	UBXN6_ENST00000394765.3_5'UTR|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	30						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTGTGGGCCTTTTCCCTGGG	0.667													8	1232	---	---	---	---						-	4454085	T	-	4454085	7	5	19	1	0	1	0	1	0	0	0	0	16977	1609	56	0	1276	0	UBXN6	19	4454085	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08		4454085	54674898	81	1987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	256					0	0	1	0	0	T	7796974	C	T	7796974	5	4	19	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	3342889	7796974	51332009	82	1988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000601861.1_Missense_Mutation_p.A563S|FAM129C_ENST00000599164.1_Missense_Mutation_p.A563S|FAM129C_ENST00000595684.1_Missense_Mutation_p.A594S|FAM129C_ENST00000332386.5_Missense_Mutation_p.A594S|FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000599124.1_Missense_Mutation_p.A527S|FAM129C_ENST00000449408.2_Missense_Mutation_p.A320S|FAM129C_ENST00000352727.3_Missense_Mutation_p.A558S	NM_173544.4	NP_775815.2	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													106	721					4.07119e-57	4.69072e-57	1	1	0	T	17660273	G	T	17660273	3	4	19	1	0	0	0	0	1	0	0	0	5469	1319	46	2	1838	2	FAM129C	19	17660273	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	9863299	17660273	41468710	83	1989											
FPR3	2359	broad.mit.edu	37	chr19	52327875	52327875	+	Frame_Shift_Del	DEL	T	T	-													acccaacaagctccttggccTtttttaacagctgcctcaac							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:52327875delT	ENST00000339223.4	+	2	1053	c.874delT	c.(874-876)ttfs	p.F293fs	FPR3_ENST00000595991.1_Frame_Shift_Del_p.F293fs	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	293					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						CTCCTTGGCCTTTTTTAACAG	0.428													8	989	---	---	---	---						-	52327875	T	-	52327875	7	5	19	1	0	1	0	1	0	0	0	0	6074	1609	56	0	876	0	FPR3	19	52327875	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	34667602	52327875	6801108	84	1990											
ZNF611	81856	broad.mit.edu	37	chr19	53208246	53208247	+	Frame_Shift_Ins	INS	-	-	A													gaaaggtgtgattgttgattINSaaaagccttcccacattcat							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:53208246_53208247insA	ENST00000543227.1	-	6	2335_2336	c.2061_2062insT	c.(2059-2064)ttatcafs	p.LS687fs	ZNF611_ENST00000595798.1_Frame_Shift_Ins_p.LS618fs|ZNF611_ENST00000602162.1_Frame_Shift_Ins_p.LS618fs|ZNF611_ENST00000319783.1_Frame_Shift_Ins_p.LS687fs|ZNF611_ENST00000540744.1_Frame_Shift_Ins_p.LS687fs|ZNF611_ENST00000453741.2_Frame_Shift_Ins_p.LS618fs	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	687					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)		GATTGTTGATTAAAAGCCTTCC	0.391													140	568	---	---	---	---						A	53208247	-	A	53208246	7	5	19	1	0	1	1	0	0	0	0	0	18094	1754	61	0	59	0	ZNF611	19	53208246	Frame_Shift_Ins	INS	-	TCGA-HZ-A49I-01A-12D-A26I-08	880371	53208246	5920737	85	1991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:55501388A>G	ENST00000543010.1	+	9	2509		c.e9-1		NLRP2_ENST00000537859.1_Splice_Site|NLRP2_ENST00000538819.1_Splice_Site|NLRP2_ENST00000263437.6_Splice_Site|NLRP2_ENST00000427260.2_Splice_Site|NLRP2_ENST00000391721.4_Splice_Site|NLRP2_ENST00000448584.2_Splice_Site|NLRP2_ENST00000339757.7_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													52	291					0	0	1	0	0	G	55501388	A	G	55501388	5	3	19	1	0	0	0	0	0	0	1	0	10524	202	7	3	2395	3	NLRP2	19	55501388	Splice_Site	SNP	A	TCGA-HZ-A49I-01A-12D-A26I-08	2293142	55501388	3627595	86	1992											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	139					0	0	1	0	0	T	36855620	C	T	36855620	3	4	19	1	0	0	0	0	1	0	0	0	8299	652	23	1	1646	1	KIAA1755	20	36855620	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		36855620	26169900	87	1993											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	85					0	0	1	0	0	T	36859706	C	T	36859706	3	4	19	1	0	0	0	0	1	0	0	0	8299	652	23	1	1873	1	KIAA1755	20	36859706	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	4086	36859706	26165814	88	1994											
RTEL1	51750	broad.mit.edu	37	chr20	62292822	62292824	+	In_Frame_Del	DEL	GCT	GCT	-													ccttgtcatcctggggcaacGctgctgctgctgctggagac							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr20:62292822_62292824delGCT	ENST00000318100.4	+	3	1101_1103	c.274_276delGCT	c.(274-276)del	p.A96del	RTEL1_ENST00000370018.3_In_Frame_Del_p.A96del|RTEL1_ENST00000488316.1_3'UTR|RTEL1_ENST00000360203.5_In_Frame_Del_p.A96del|RTEL1_ENST00000508582.2_In_Frame_Del_p.A96del|RTEL1-TNFRSF6B_ENST00000482936.1_In_Frame_Del_p.A96del			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	96	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)			CTGGGGCAACGCTGCTGCTGCTG	0.645													7	203	---	---	---	---						-	62292824	GCT	-	62292822	7	5	19	1	0	1	0	1	0	0	0	0	13772	1087	38	0	280	0	RTEL1	20	62292822	In_Frame_Del	DEL	GCT	TCGA-HZ-A49I-01A-12D-A26I-08	25433116	62292822	732698	89	1995											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000290239.6_Missense_Mutation_p.P1196L|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.P1196L|SON_ENST00000381679.4_Missense_Mutation_p.P1196L	NM_138927.1	NP_620305.1	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													157	775					0	0	1	0	0	T	34925124	C	T	34925124	3	4	19	1	0	0	0	0	1	0	0	0	14980	681	24	2	3597	2	SON	21	34925124	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		34925124	13204771	90	1996											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													124	553					0	0	1	0	0	A	40650700	G	A	40650700	2	1	19	1	0	0	0	0	0	0	0	1	1527	1074	38	1		1	BRWD1	21	40650700	Silent	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	5725576	40650700	7479195	91	1997											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr22:44559738G>T	ENST00000338758.6	+	12	1009	c.945_splice	c.e12-1	p.V316_splice	PARVB_ENST00000404989.1_Splice_Site_p.V279_splice|PARVB_ENST00000406477.3_Splice_Site_p.V349_splice	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	316	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													8	338					0.00621372	0.00627289	1	1	0	T	44559738	G	T	44559738	5	4	19	1	0	0	0	0	0	0	1	0	11516	1275	44	2	1211	2	PARVB	22	44559738	Splice_Site	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08		44559738	6744828	92	1998											
PER3	8863	broad.mit.edu	37	chr1	7845050	7845050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatctgcagaggaaattggCggacagcagccacaggtgac	13	11	1	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:7845050C>T	ENST00000377532.3	+	1	337	c.113C>T	c.(112-114)gCg>gTg	p.A38V	PER3_ENST00000377541.1_Missense_Mutation_p.A38V|PER3_ENST00000361923.2_Missense_Mutation_p.A38V			P56645	PER3_HUMAN	period circadian clock 3	38					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)		AGGAAATTGGCGGACAGCAGC	0.632													4	161					0	0	1	0	0	T	7845050	C	T	7845050	3	4	20	1	0	0	0	0	1	0	0	0	11778	768	27	1	115	1	PER3	1	7845050	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08		7845050	241405571	1	1999											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000606561.1_Missense_Mutation_p.R93H|HNRNPR_ENST00000374612.1_Missense_Mutation_p.R232H|HNRNPR_ENST00000427764.2_Missense_Mutation_p.R194H|HNRNPR_ENST00000426846.2_Missense_Mutation_p.R72H|HNRNPR_ENST00000374616.3_Missense_Mutation_p.R232H	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													97	222					0	0	1	0	0	T	23648137	C	T	23648137	3	4	20	1	0	0	0	0	1	0	0	0	7313	768	27	1	1235	1	HNRNPR	1	23648137	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	15803087	23648137	225602484	2	2000											
IL12RB2	3595	broad.mit.edu	37	chr1	67855714	67855714	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttttctttatctatagggTgtttgttctcctagcagccc	8	9	3	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:67855714T>C	ENST00000262345.1	+	15	2589	c.1949T>C	c.(1948-1950)gTg>gCg	p.V650A	IL12RB2_ENST00000544434.1_Missense_Mutation_p.V564A|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000371000.1_Intron|IL12RB2_ENST00000541374.1_Intron	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	650					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						ATCTATAGGGTGTTTGTTCTC	0.458													5	132					0	0	1	0	0	C	67855714	T	C	67855714	3	2	20	1	0	0	0	0	1	0	0	0	7671	1696	59	3	2003	3	IL12RB2	1	67855714	Missense_Mutation	SNP	T	TCGA-HZ-A77O-01A-11D-A33T-08	44207577	67855714	181394907	3	2001											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:161167857G>T	ENST00000367996.4	-	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	187					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													87	287					2.42809e-49	2.65572e-49	1	1	0	T	161167857	G	T	161167857	2	4	20	1	0	0	0	0	0	0	0	1	267	1335	47	2		2	ADAMTS4	1	161167857	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	93312143	161167857	88082764	4	2002											
GPR25	2848	broad.mit.edu	37	chr1	200842776	200842778	+	In_Frame_Del	DEL	TGC	TGC	-													cgccttccagggcctcagctTgctgctgctgctgctgacct							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:200842776_200842778delTGC	ENST00000304244.2	+	1	694_696	c.611_613delTGC	c.(610-615)ttg>t	p.LL208del		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	208	Poly-Leu.					integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGCCTCAGCTTGCTGCTGCTGCT	0.724													8	125	---	---	---	---						-	200842778	TGC	-	200842776	7	5	20	1	0	1	0	1	0	0	0	0	6723	1821	63	0	613	0	GPR25	1	200842776	In_Frame_Del	DEL	TGC	TCGA-HZ-A77O-01A-11D-A33T-08	39674919	200842776	48407845	5	2003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	227					0	0	1	0	0	T	229750171	C	T	229750171	3	4	20	1	0	0	0	0	1	0	0	0	15586	652	23	1	1732	1	TAF5L	1	229750171	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	28907395	229750171	19500450	6	2004											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	139					0	0	1	0	0	A	248023988	G	A	248023988	3	1	20	1	0	0	0	0	1	0	0	0	16592	1145	40	1	496	1	TRIM58	1	248023988	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	18273817	248023988	1226633	7	2005											
OTOF	9381	broad.mit.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-													tctggctcctccgcagtgccCttcttcttcttcttcttctc							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)del	p.K1310del	OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				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)					CCGCAGTGCCcttcttcttcttc	0.576													8	338	---	---	---	---						-	26693556	CTT	-	26693554	7	5	20	1	0	1	0	1	0	0	0	0	11350	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-HZ-A77O-01A-11D-A33T-08		26693554	216505819	8	2006											
GPAT2	150763	broad.mit.edu	37	chr2	96691942	96691942	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccatacctgcagggaaaAgggctgagctaggtgcaccc	13	12	0	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:96691942A>G	ENST00000434632.1	-	12	1603	c.1144T>C	c.(1144-1146)Ttt>Ctt	p.F382L	GPAT2_ENST00000453542.1_Missense_Mutation_p.F311L|GPAT2_ENST00000359548.4_Missense_Mutation_p.F382L|GPAT2_ENST00000377137.3_Missense_Mutation_p.F382L			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	382					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						TGCAGGGAAAAGGGCTGAGCT	0.647													5	342					0	0	1	0	0	G	96691942	A	G	96691942	3	3	20	1	0	0	0	0	1	0	0	0	6629	72	3	3	1291	3	GPAT2	2	96691942	Missense_Mutation	SNP	A	TCGA-HZ-A77O-01A-11D-A33T-08	69998388	96691942	146507431	9	2007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	220					0	0	1	0	0	A	99907775	G	A	99907775	2	1	20	1	0	0	0	0	0	0	0	1	9150	1048	37	1		1	LYG1	2	99907775	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	3215833	99907775	143291598	10	2008											
LRP1B	53353	broad.mit.edu	37	chr2	141625833	141625833	+	Splice_Site	DEL	C	C	-													agtctgtccagaaaagaattCtaaaaaaaaaaaaaaaaaaa							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:141625833delC	ENST00000389484.3	-	26	5141		c.e26-1			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)		GAAAAGAATTCTaaaaaaaaa	0.343										TSP Lung(27;0.18)			12	211	---	---	---	---						-	141625833	C	-	141625833	8	5	20	1	0	1	0	1	0	0	1	0	9000	927	32	0	9894	0	LRP1B	2	141625833	Splice_Site	DEL	C	TCGA-HZ-A77O-01A-11D-A33T-08	41718058	141625833	101573540	11	2009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357546.2_Missense_Mutation_p.A182V|DHRS9_ENST00000432060.2_Missense_Mutation_p.A242V|DHRS9_ENST00000412271.1_Missense_Mutation_p.A182V|DHRS9_ENST00000602501.1_Missense_Mutation_p.A182V|DHRS9_ENST00000436483.2_Missense_Mutation_p.A182V|DHRS9_ENST00000428522.1_Missense_Mutation_p.A182V|DHRS9_ENST00000421653.1_Missense_Mutation_p.A35V	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													42	164					0	0	1	0	0	T	169940070	C	T	169940070	3	4	20	1	0	0	0	0	1	0	0	0	4526	710	25	2	551	2	DHRS9	2	169940070	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	28314237	169940070	73259303	12	2010											
IRS1	3667	broad.mit.edu	37	chr2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-													ctctggagggtgcagcaaggGctgctgctgctgctgctgct							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:227660808_227660810delGCT	ENST00000305123.4	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)ccc>c	p.QP882del		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				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)		TGCAGCAAGGgctgctgctgctg	0.626													7	332	---	---	---	---						-	227660810	GCT	-	227660808	7	5	20	1	0	1	0	1	0	0	0	0	7884	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-HZ-A77O-01A-11D-A33T-08	57720738	227660808	15538565	13	2011											
TRPM8	79054	broad.mit.edu	37	chr2	234879010	234879010	+	Frame_Shift_Del	DEL	C	C	-													gatttccattcggtgccacaCccccccgagctggtcctgta							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:234879010delC	ENST00000324695.4	+	17	2335	c.2295delC	c.(2293-2295)cafs	p.H765fs	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	765						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)	CGGTGCCACACCCCCCCGAGC	0.577													10	1342	---	---	---	---						-	234879010	C	-	234879010	7	5	20	1	0	1	0	1	0	0	0	0	16653	506	18	0	2357	0	TRPM8	2	234879010	Frame_Shift_Del	DEL	C	TCGA-HZ-A77O-01A-11D-A33T-08	7218202	234879010	8320363	14	2012											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544142.1_Missense_Mutation_p.G413S|PASK_ENST00000405260.1_Missense_Mutation_p.G599S|PASK_ENST00000358649.4_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													36	374					0	0	1	0	0	T	242066535	C	T	242066535	3	4	20	1	0	0	0	0	1	0	0	0	11519	623	22	2	2212	2	PASK	2	242066535	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	7187525	242066535	1132838	15	2013											
MST1	4485	broad.mit.edu	37	chr3	49721622	49721622	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgggcccccgtagtcacCctggcaggtaggagaactga	14	11	1	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:49721622C>T	ENST00000449682.2	-	18	2378	c.2016_splice	c.e18-1	p.G673_splice		NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	659	Peptidase S1.				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)		CCGTAGTCACCCTGGCAGGTA	0.567													4	150					0	0	1	0	0	T	49721622	C	T	49721622	5	4	20	1	0	0	0	0	0	0	1	0	9938	637	22	2	164	2	MST1	3	49721622	Splice_Site	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08		49721622	148300808	16	2014											
PRKCD	5580	broad.mit.edu	37	chr3	53220653	53220653	+	Frame_Shift_Del	DEL	G	G	-													ttgtgatggagttcctcaacGggggggacctgatgtaccac							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:53220653delG	ENST00000394729.2	+	13	1622	c.1294delG	c.(1294-1296)ggfs	p.G433fs	PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	433	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)		GTTCCTCAACGGGGGGGACCT	0.602													7	1357	---	---	---	---						-	53220653	G	-	53220653	7	5	20	1	0	1	0	1	0	0	0	0	12561	1116	39	0	1340	0	PRKCD	3	53220653	Frame_Shift_Del	DEL	G	TCGA-HZ-A77O-01A-11D-A33T-08	3499031	53220653	144801777	17	2015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	285					0	0	1	0	0	A	170723136	G	A	170723136	4	1	20	1	0	0	0	0	0	1	0	0	14599	1124	39	1	693	1	SLC2A2	3	170723136	Nonsense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	117502483	170723136	27299294	18	2016											
EIF4G1	1981	broad.mit.edu	37	chr3	184045234	184045234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgggaccgtgggcgggatgCcggtgagagtctgggagagg	22	7	1	2	rs139196308	by1000genomes	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:184045234C>T	ENST00000342981.4	+	23	4076	c.3662C>T	c.(3661-3663)gCc>gTc	p.A1221V	EIF4G1_ENST00000382330.3_Missense_Mutation_p.A1227V|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A1056V|EIF4G1_ENST00000424196.1_Missense_Mutation_p.A1227V|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A1133V|EIF4G1_ENST00000346169.2_Missense_Mutation_p.A1220V|EIF4G1_ENST00000441154.1_Missense_Mutation_p.A1057V|EIF4G1_ENST00000435046.2_Missense_Mutation_p.A1024V|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A1220V|EIF4G1_ENST00000414031.1_Missense_Mutation_p.A1180V|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A1134V|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A1025V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Missense_Mutation_p.A1181V|EIF4G1_ENST00000352767.3_Missense_Mutation_p.A1227V	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1220					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)			GGGCGGGATGCCGGTGAGAGT	0.607													5	303					0	0	1	0	0	T	184045234	C	T	184045234	3	4	20	1	0	0	0	0	1	0	0	0	5064	739	26	2	3745	2	EIF4G1	3	184045234	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	13322098	184045234	13977196	19	2017											
MUC4	4585	broad.mit.edu	37	chr3	195511883	195511883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgacaggaagaggggtggCgtgacctgtggatgctgagg	21	5	0	4			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:195511883C>T	ENST00000463781.3	-	2	7027	c.6568G>A	c.(6568-6570)Gcc>Acc	p.A2190T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A2190T|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	979					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)		AGAGGGGTGGCGTGACCTGTG	0.597													3	13					0	0	1	0	0	T	195511883	C	T	195511883	3	4	20	1	0	0	0	0	1	0	0	0	10026	768	27	1		1	MUC4	3	195511883	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	11466649	195511883	2510547	20	2018											
TMEM175	84286	broad.mit.edu	37	chr4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-													ctctgggcatcttcttgttcTgtgtgtgtgtgatcgccatt							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tfs	p.C144fs	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						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)			CTTCTTGTTCTGTGTGTGTGTG	0.515													8	922	---	---	---	---						-	946207	TG	-	946206	7	5	20	1	0	1	0	1	0	0	0	0	16151	1580	55	0	452	0	TMEM175	4	946206	Frame_Shift_Del	DEL	TG	TCGA-HZ-A77O-01A-11D-A33T-08		946206	190208070	21	2019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	268					0	0	1	0	0	G	8218705	C	G	8218705	3	3	20	1	0	0	0	0	1	0	0	0	14316	681	24	5	672	5	SH3TC1	4	8218705	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	7272499	8218705	182935571	22	2020											
PRDM8	56978	broad.mit.edu	37	chr4	81123250	81123252	+	In_Frame_Del	DEL	CAG	CAG	-													gcggcggcggtggcaaagacCagcagcagcagcagcaggag							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:81123250_81123252delCAG	ENST00000339711.4	+	10	1865_1867	c.634_636delCAG	c.(634-636)del	p.Q217del	PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				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						tggcaaagaccagcagcagcagc	0.655											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	282	---	---	---	---						-	81123252	CAG	-	81123250	7	5	20	1	0	1	0	1	0	0	0	0	12514	595	21	0	644	0	PRDM8	4	81123250	In_Frame_Del	DEL	CAG	TCGA-HZ-A77O-01A-11D-A33T-08	72904545	81123250	110031026	23	2021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	194					0	0	1	0	0	T	83601872	C	T	83601872	3	4	20	1	0	0	0	0	1	0	0	0	13940	652	23	1	653	1	SCD5	4	83601872	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	2478622	83601872	107552404	24	2022											
TRERF1	55809	broad.mit.edu	37	chr6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-													caaaagccgccttctgagccTtttgcctctgttgttcctcc							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:42196333delT	ENST00000541110.1	-	18	3981	c.3413delA	c.(3412-3414)agfs	p.K1138fs	TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	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			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)			CTTCTGAGCCTTTTGCCTCTG	0.542													8	2513	---	---	---	---						-	42196333	T	-	42196333	7	5	20	1	0	1	0	1	0	0	0	0	16536	1609	56	0	253	0	TRERF1	6	42196333	Frame_Shift_Del	DEL	T	TCGA-HZ-A77O-01A-11D-A33T-08		42196333	128918734	25	2023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000507907.1_Silent_p.F178F|GRM1_ENST00000282753.1_Silent_p.F178F|GRM1_ENST00000492807.2_Silent_p.F178F|GRM1_ENST00000361719.2_Silent_p.F178F|GRM1_ENST00000355289.4_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													144	243					0	0	1	0	0	T	146351187	C	T	146351187	2	4	20	1	0	0	0	0	0	0	0	1	6837	883	31	1		1	GRM1	6	146351187	Silent	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	104154854	146351187	24763880	26	2024											
TMEM184A	202915	broad.mit.edu	37	chr7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC													ctcccgccggagccgccgctINSggggtgggtgccgggcctgg					rs3837151	by1000genomes	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)ccgcgg>ccGGCgcgg	p.389_390PR>PAR		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						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)		GAGCCGCCGCTGGGGTGGGTGC	0.703													9	147	---	---	---	---						GCC	1586663	-	GCC	1586662	7	5	20	1	0	1	1	0	0	0	0	0	16164	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-HZ-A77O-01A-11D-A33T-08		1586662	157552001	27	2025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	217					0	0	1	0	0	G	92732859	A	G	92732859	3	3	20	1	0	0	0	0	1	0	0	0	13878	101	4	3	2221	3	SAMD9	7	92732859	Missense_Mutation	SNP	A	TCGA-HZ-A77O-01A-11D-A33T-08	91146197	92732859	66405804	28	2026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473745.1_Missense_Mutation_p.R406H|IRF5_ENST00000357234.5_Missense_Mutation_p.R422H|IRF5_ENST00000477535.1_Missense_Mutation_p.R320H	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													5	336					0	0	1	0	0	A	128588348	G	A	128588348	3	1	20	1	0	0	0	0	1	0	0	0	7877	1087	38	1	1291	1	IRF5	7	128588348	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	35855489	128588348	30550315	29	2027											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000522656.1_Intron|SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000398090.3_Missense_Mutation_p.V427G|SLC7A2_ENST00000004531.10_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													139	349					0	0	1	0	0	G	17412559	T	G	17412559	3	3	20	1	0	0	0	0	1	0	0	0	14752	1725	60	3	1450	3	SLC7A2	8	17412559	Missense_Mutation	SNP	T	TCGA-HZ-A77O-01A-11D-A33T-08		17412559	128951463	30	2028											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			13	469					0	0	1	0	0	A	139767411	G	A	139767411	3	1	20	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	31	2029											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446177.1_Missense_Mutation_p.H83Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|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)			31	67					0	0	1	0	0	A	21971111	G	A	21971111	3	1	20	1	0	0	0	0	1	0	0	0	3183	1319	46	2	231	2	CDKN2A	9	21971111	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08		21971111	119242320	32	2030											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													286	603					8.35172e-133	9.32905e-133	1	1	0	T	114911537	G	T	114911537	2	4	20	1	0	0	0	0	0	0	0	1	15463	1306	46	2		2	SUSD1	9	114911537	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	92940426	114911537	26301894	33	2031											
AKNA	80709	broad.mit.edu	37	chr9	117122000	117122002	+	In_Frame_Del	DEL	TCC	TCC	-													gggagtcacctcccccctctTcctcctcctcctcctctcct							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:117122000_117122002delTCC	ENST00000307564.4	-	11	2525_2527	c.2364_2366delGGA	c.(2362-2367)gaa>ga	p.EE788del	AKNA_ENST00000374075.5_In_Frame_Del_p.EE707del|AKNA_ENST00000223791.3_In_Frame_Del_p.EE248del|AKNA_ENST00000374088.3_In_Frame_Del_p.EE788del|AKNA_ENST00000312033.3_In_Frame_Del_p.EE788del	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	788	PEST.				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						TCccccctcttcctcctcctcct	0.596													7	327	---	---	---	---						-	117122002	TCC	-	117122000	7	5	20	1	0	1	0	1	0	0	0	0	460	1783	62	0	2001	0	AKNA	9	117122000	In_Frame_Del	DEL	TCC	TCGA-HZ-A77O-01A-11D-A33T-08	2210463	117122000	24091431	34	2032											
WDR5	11091	broad.mit.edu	37	chr9	137019598	137019598	+	Frame_Shift_Del	DEL	C	C	-													tttattgcagatgacgacaaCccccccgtgtcttttgtgaa							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:137019598delC	ENST00000358625.3	+	10	813	c.642delC	c.(640-642)aafs	p.N214fs	WDR5_ENST00000425041.1_Frame_Shift_Del_p.N214fs	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	214					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)		ATGACGACAACCCCCCCGTGT	0.627													7	1147	---	---	---	---						-	137019598	C	-	137019598	7	5	20	1	0	1	0	1	0	0	0	0	17363	506	18	0	676	0	WDR5	9	137019598	Frame_Shift_Del	DEL	C	TCGA-HZ-A77O-01A-11D-A33T-08	19897598	137019598	4193833	35	2033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)			19	72					4.96729e-08	5.26834e-08	1	1	0	A	25398284	C	A	25398284	3	1	20	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08		25398284	108453611	36	2034											
ACACB	32	broad.mit.edu	37	chr12	109654726	109654726	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggtgatcatgttgatcGtaagcaggaagagggcctgt	15	6	1	3			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr12:109654726G>A	ENST00000338432.7	+	24	3683		c.e24+1		ACACB_ENST00000377854.5_Intron|ACACB_ENST00000377848.3_Splice_Site			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta						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)	CATGTTGATCGTAAGCAGGAA	0.557													4	140					0	0	1	0	0	A	109654726	G	A	109654726	5	1	20	1	0	0	0	0	0	0	1	0	107	1159	40	1	3655	1	ACACB	12	109654726	Splice_Site	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	84256442	109654726	24197169	37	2035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr12:122623025C>A	ENST00000319080.6	+	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	771	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													5	162					1	1	1	1	0	A	122623025	C	A	122623025	3	1	20	1	0	0	0	0	1	0	0	0	9684	711	25	2	2365	2	MLXIP	12	122623025	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	12968299	122623025	11228870	38	2036											
TEP1	7011	broad.mit.edu	37	chr14	20841276	20841276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaagccacagcagtgacgGctgcagaactccttggtata	10	13	0	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:20841276G>A	ENST00000262715.5	-	48	6885	c.6845C>T	c.(6844-6846)gCc>gTc	p.A2282V	TEP1_ENST00000545983.1_Missense_Mutation_p.A620V|TEP1_ENST00000556935.1_Missense_Mutation_p.A2174V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2282					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)		AGCAGTGACGGCTGCAGAACT	0.512													5	353					0	0	1	0	0	A	20841276	G	A	20841276	3	1	20	1	0	0	0	0	1	0	0	0	15818	1203	42	2	1070	2	TEP1	14	20841276	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08		20841276	86508264	39	2037											
FBXO34	55030	broad.mit.edu	37	chr14	55818555	55818555	+	Frame_Shift_Del	DEL	T	T	-													acccagttccagggatgttgTtttttttgccacctggtcag							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:55818555delT	ENST00000313833.4	+	2	1692	c.1447delT	c.(1447-1449)ttfs	p.F484fs	FBXO34_ENST00000440021.1_Frame_Shift_Del_p.F484fs	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	484										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AGGGATGTTGTTTTTTTTGCC	0.443													10	491	---	---	---	---						-	55818555	T	-	55818555	7	5	20	1	0	1	0	1	0	0	0	0	5777	1725	60	0	1449	0	FBXO34	14	55818555	Frame_Shift_Del	DEL	T	TCGA-HZ-A77O-01A-11D-A33T-08	34977279	55818555	51530985	40	2038											
TMED10	10972	broad.mit.edu	37	chr14	75601711	75601712	+	Splice_Site	INS	-	-	A													cccgagtgtttgttgactctINSaaaaaaaaacaaaagcattg							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:75601711_75601712insA	ENST00000303575.4	-	5	590		c.e5-2		TMED10_ENST00000557670.1_Splice_Site|RP11-950C14.7_ENST00000556236.1_RNA	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)		TTGTTGACTCTAAAAAAAAACA	0.426													7	247	---	---	---	---						A	75601712	-	A	75601711	8	5	20	1	0	1	1	0	0	0	1	0	16063	1536	53	0	126	0	TMED10	14	75601711	Splice_Site	INS	-	TCGA-HZ-A77O-01A-11D-A33T-08	19783156	75601711	31747829	41	2039											
CHGA	1113	broad.mit.edu	37	chr14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-													ggtggcaggcaaagagagaaGaggaggaggaggaggaggag							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)del	p.E236del	CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	236					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)		AAAGAGAgaagaggaggaggagg	0.645													8	158	---	---	---	---						-	93397926	GAG	-	93397924	7	5	20	1	0	1	0	1	0	0	0	0	3360	943	33	0	707	0	CHGA	14	93397924	In_Frame_Del	DEL	GAG	TCGA-HZ-A77O-01A-11D-A33T-08	17796213	93397924	13951616	42	2040											
SIN3A	25942	broad.mit.edu	37	chr15	75684712	75684712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggcttgggaacaaatccGtagcagcctcaggcagagaa	12	10	1	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr15:75684712G>A	ENST00000394947.3	-	15	3036	c.2722C>T	c.(2722-2724)Cgg>Tgg	p.R908W	SIN3A_ENST00000394949.4_Missense_Mutation_p.R908W|SIN3A_ENST00000360439.4_Missense_Mutation_p.R908W	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	908					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						GAACAAATCCGTAGCAGCCTC	0.453													7	426					0	0	1	0	0	A	75684712	G	A	75684712	3	1	20	1	0	0	0	0	1	0	0	0	14380	1144	40	1	1127	1	SIN3A	15	75684712	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08		75684712	26846680	43	2041											
COTL1	23406	broad.mit.edu	37	chr16	84600451	84600451	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtggcgggggctggggTtactccgtctgggcgtcgta	20	8	1	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:84600451T>G	ENST00000262428.4	-	4	591	c.429A>C	c.(427-429)taA>taC	p.*143Y	COTL1_ENST00000567278.1_5'UTR|COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	0						cytoplasm|cytoskeleton	actin binding|enzyme binding			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GGGGCTGGGGTTACTCCGTCT	0.622													11	129					0	0	1	0	0	G	84600451	T	G	84600451	4	3	20	1	0	0	0	0	0	0	0	0	3784	1732	60	3	3	3	COTL1	16	84600451	Nonstop_Mutation	SNP	T	TCGA-HZ-A77O-01A-11D-A33T-08		84600451	5754302	44	2042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000269305.4_Missense_Mutation_p.S127F|TP53_ENST00000413465.2_Missense_Mutation_p.S127F|TP53_ENST00000359597.4_Missense_Mutation_p.S127F|TP53_ENST00000445888.2_Missense_Mutation_p.S127F|TP53_ENST00000455263.2_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)			40	75					0	0	1	0	0	A	7578550	G	A	7578550	3	1	20	1	0	0	0	0	1	0	0	0	16442	1174	41	2	918	2	TP53	17	7578550	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08		7578550	73616660	45	2043											
CHD3	1107	broad.mit.edu	37	chr17	7810228	7810228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgggcgttggtcaatgccGgaactgatgcctgaccccag	13	11	1	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:7810228G>A	ENST00000380358.4	+	30	4723	c.4722G>A	c.(4720-4722)ccG>ccA	p.P1574P	CHD3_ENST00000330494.7_Silent_p.P1515P|CHD3_ENST00000358181.4_Silent_p.P1515P	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1515	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	p.P1515P(1)		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)				GGTCAATGCCGGAACTGATGC	0.587													7	498					0	0	1	0	0	A	7810228	G	A	7810228	2	1	20	1	0	0	0	0	0	0	0	1	3348	1103	39	1		1	CHD3	17	7810228	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	231678	7810228	73384982	46	2044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	EVI2A_ENST00000461237.1_Missense_Mutation_p.T3M|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000462804.2_Missense_Mutation_p.T3M|NF1_ENST00000581113.2_Intron	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													11	761					0	0	1	0	0	A	29646024	G	A	29646024	3	1	20	1	0	0	0	0	1	0	0	0	5315	1145	40	1	706	1	EVI2A	17	29646024	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	21835796	29646024	51549186	47	2045											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_705694.2	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													9	271					0	0	1	0	0	T	39661661	C	T	39661661	3	4	20	1	0	0	0	0	1	0	0	0	8493	652	23	1	1266	1	KRT13	17	39661661	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	10015637	39661661	41533549	48	2046											
PIK3R2	5296	broad.mit.edu	37	chr19	18278056	18278056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagagagatcgacaagcGcatgaacagcctcaagccgg	11	12	1	3			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:18278056G>A	ENST00000593731.1	+	13	2236	c.1676G>A	c.(1675-1677)cGc>cAc	p.R559H	PIK3R2_ENST00000222254.7_Missense_Mutation_p.R559H			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	559					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						ATCGACAAGCGCATGAACAGC	0.627													5	323					0	0	1	0	0	A	18278056	G	A	18278056	3	1	20	1	0	0	0	0	1	0	0	0	11967	1087	38	1	1722	1	PIK3R2	19	18278056	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08		18278056	40850927	49	2047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	46					0	0	1	0	0	A	42862961	G	A	42862961	3	1	20	1	0	0	0	0	1	0	0	0	9513	1145	40	1	5111	1	MEGF8	19	42862961	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	24584905	42862961	16266022	50	2048											
ZC3H4	23211	broad.mit.edu	37	chr19	47572401	47572403	+	In_Frame_Del	DEL	CTC	CTC	-													tcagccagcctcctcgctctCtcctcctcctcctgctgctt							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:47572401_47572403delCTC	ENST00000253048.5	-	14	2381_2383	c.2344_2346delGAG	c.(2344-2346)del	p.E782del	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	782							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)		TCCTCGCTCTCTCCTCCTCCTCC	0.7													7	634	---	---	---	---						-	47572403	CTC	-	47572401	7	5	20	1	0	1	0	1	0	0	0	0	17629	912	32	0	1573	0	ZC3H4	19	47572401	In_Frame_Del	DEL	CTC	TCGA-HZ-A77O-01A-11D-A33T-08	4709440	47572401	11556582	51	2049											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000439096.2_3'UTR|BBC3_ENST00000341983.4_3'UTR|BBC3_ENST00000300880.7_Silent_p.P74P	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													6	134					0	0	1	0	0	T	47725042	C	T	47725042	2	4	20	1	0	0	0	0	0	0	0	1	1331	639	23	1		1	BBC3	19	47725042	Silent	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	152641	47725042	11403941	52	2050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	157					0	0	1	0	0	G	48259965	T	G	48259965	3	3	20	1	0	0	0	0	1	0	0	0	6517	1696	59	3	1440	3	GLTSCR2	19	48259965	Missense_Mutation	SNP	T	TCGA-HZ-A77O-01A-11D-A33T-08	534923	48259965	10869018	53	2051											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341197.3_Missense_Mutation_p.R160H|TOX2_ENST00000423191.1_Missense_Mutation_p.R118H|TOX2_ENST00000372999.1_Missense_Mutation_p.R118H|TOX2_ENST00000435864.2_Missense_Mutation_p.R38H	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													53	154					0	0	1	0	0	A	42680013	G	A	42680013	3	1	20	1	0	0	0	0	1	0	0	0	16439	1087	38	1	623	1	TOX2	20	42680013	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08		42680013	20345507	54	2052											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	241					0	0	1	0	0	A	47309258	G	A	47309258	4	1	20	1	0	0	0	0	0	1	0	0	12528	1066	37	1	4123	1	PREX1	20	47309258	Nonsense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	4629245	47309258	15716262	55	2053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370468.3_Intron|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													5	111					0	0	1	0	0	G	61444809	A	G	61444809	2	3	20	1	0	0	0	0	0	0	0	1	10891	175	7	3		3	OGFR	20	61444809	Silent	SNP	A	TCGA-HZ-A77O-01A-11D-A33T-08	14135551	61444809	1580711	56	2054											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	53					0	0	1	0	0	T	20229361	C	T	20229361	3	4	20	1	0	0	0	0	1	0	0	0	13782	739	26	2	130	2	RTN4R	22	20229361	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08		20229361	31075205	57	2055											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000249130.5_Silent_p.G71G|SULT4A1_ENST00000540422.1_Intron	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													37	189					0	0	1	0	0	A	44237769	G	A	44237769	2	1	20	1	0	0	0	0	0	0	0	1	15439	1074	38	1		1	SULT4A1	22	44237769	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	24008408	44237769	7066797	58	2056											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498009.1_3'UTR|ATXN10_ENST00000381061.4_Missense_Mutation_p.V110I	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													63	175					0	0	1	0	0	A	46098600	G	A	46098600	3	1	20	1	0	0	0	0	1	0	0	0	1208	1377	48	2	538	2	ATXN10	22	46098600	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	1860831	46098600	5205966	59	2057											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													162	553					5.64644e-101	6.24081e-101	1	1	0	A	54099471	C	A	54099471	3	1	20	1	0	0	0	0	1	0	0	0	5449	855	30	2	8	2	FAM120C	23	54099471	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08		54099471	101171089	60	2058											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	8	8	3	2	rs61754468	by1000genomes	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413													10	424					0	0	1	0	0	C	73811938	G	C	73811938	2	2	20	1	0	0	0	0	0	0	0	1	13442	1335	47	5		5	RLIM	23	73811938	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	19712467	73811938	81458622	61	2059											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402866.1_Missense_Mutation_p.K605E|DRP2_ENST00000538510.1_Missense_Mutation_p.K605E|DRP2_ENST00000541709.1_Missense_Mutation_p.K527E	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													142	481					0	0	1	0	0	G	100506020	A	G	100506020	3	3	20	1	0	0	0	0	1	0	0	0	4790	247	9	3	1867	3	DRP2	23	100506020	Missense_Mutation	SNP	A	TCGA-HZ-A77O-01A-11D-A33T-08	26694082	100506020	54764540	62	2060											
PAK3	5063	broad.mit.edu	37	chrX	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-													ctgaagaagaagatgaagagGaagaagaagaagaagatgaa							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:110406206_110406208delGAA	ENST00000519681.1	+	10	1037_1039	c.595_597delGAA	c.(595-597)del	p.E203del	PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)			12	442	---	---	---	---						-	110406208	GAA	-	110406206	7	5	20	1	0	1	0	1	0	0	0	0	11449	1175	41	0	666	0	PAK3	23	110406206	In_Frame_Del	DEL	GAA	TCGA-HZ-A77O-01A-11D-A33T-08	9900186	110406206	44864354	63	2061											
CD99L2	83692	broad.mit.edu	37	chrX	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-													tggttcctggcctattggttGtggtggtggtggtgtggtcc							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)aca>ac	p.TT52del	CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000355149.3_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				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)					CCTATTGGTTGTGGTGGTGGTGG	0.552													9	873	---	---	---	---						-	149984526	GTG	-	149984524	7	5	20	1	0	1	0	1	0	0	0	0	3073	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-HZ-A77O-01A-11D-A33T-08	39578318	149984524	5286036	64	2062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_064445.1	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													22	1131					0	0	1	0	0	C	153420210	G	C	153420210	3	2	20	1	0	0	0	0	1	0	0	0	10925	1058	37	5	754	5	OPN1LW	23	153420210	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	3435686	153420210	1850350	65	2063											
B4GALT2	8704	broad.mit.edu	37	chr1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-													atgccctccacccagctgctAgcagcagcagcagcagcagc					rs72406230		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)del	p.S65del	B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					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)	CCCAGCTGCTagcagcagcagca	0.685													8	365	---	---	---	---						-	44447009	AGC	-	44447007	7	5	21	1	0	1	0	1	0	0	0	0	1269	420	15	0	177	0	B4GALT2	1	44447007	In_Frame_Del	DEL	AGC	TCGA-HZ-A77P-01A-11D-A33T-08		44447007	204803614	1	2064											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	525					0	0	1	0	0	T	63789346	C	T	63789346	3	4	21	1	0	0	0	0	1	0	0	0	6031	652	23	1	619	1	FOXD3	1	63789346	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	19342339	63789346	185461275	2	2065											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*|ATP1A2_ENST00000472488.1_3'UTR	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													7	77					0	0	1	0	0	T	160098814	C	T	160098814	4	4	21	1	0	0	0	0	0	1	0	0	1128	876	31	1	1299	1	ATP1A2	1	160098814	Nonsense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	96309468	160098814	89151807	3	2066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	319					3.61848e-18	4.31562e-18	1	1	0	T	179989235	G	T	179989235	4	4	21	1	0	0	0	0	0	1	0	0	3276	1291	45	2	2368	2	CEP350	1	179989235	Nonsense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	19890421	179989235	69261386	4	2067			1	2		3	3	559	N	TCAGAAG_G	1.116022e-06
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)atfs	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													34	280	---	---	---	---						-	179989594	TCAGAAG	-	179989588	7	5	21	1	0	1	0	1	0	0	0	0	3276	1771	62	0	2721	0	CEP350	1	179989588	Frame_Shift_Del	DEL	TCAGAAG	TCGA-HZ-A77P-01A-11D-A33T-08	353	179989588	69261033	5	2068			1	2		3	3	559	N	TCAGAAG_G	1.116022e-06
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	348					0	0	1	0	0	C	179989793	G	C	179989793	3	2	21	1	0	0	0	0	1	0	0	0	3276	1290	45	5	2926	5	CEP350	1	179989793	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	205	179989793	69260828	6	2069			1	2		3	3	559	N	TCAGAAG_G	1.116022e-06
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	279					0	0	1	0	0	T	182027016	C	T	182027016	3	4	21	1	0	0	0	0	1	0	0	0	18120	893	31	1	1580	1	ZNF648	1	182027016	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	2037223	182027016	67223605	7	2070											
ASPM	259266	broad.mit.edu	37	chr1	197072532	197072532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagattgaagcaccagtaccGcatgacggagttcaatatac	9	9	1	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:197072532G>A	ENST00000367409.4	-	18	6105	c.5849C>T	c.(5848-5850)gCg>gTg	p.A1950V	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						CACCAGTACCGCATGACGGAG	0.393													7	613					0	0	1	0	0	A	197072532	G	A	197072532	3	1	21	1	0	0	0	0	1	0	0	0	1055	1087	38	1	4628	1	ASPM	1	197072532	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	15045516	197072532	52178089	8	2071											
OTOF	9381	broad.mit.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-													tctggctcctccgcagtgccCttcttcttcttcttcttctc							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)del	p.K1310del	OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				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)					CCGCAGTGCCcttcttcttcttc	0.576													10	333	---	---	---	---						-	26693556	CTT	-	26693554	7	5	21	1	0	1	0	1	0	0	0	0	11350	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-HZ-A77P-01A-11D-A33T-08		26693554	216505819	9	2072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394417.2_Missense_Mutation_p.F435S|UGP2_ENST00000467648.2_Missense_Mutation_p.F435S|UGP2_ENST00000445915.2_Missense_Mutation_p.F455S	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													21	165					0	0	1	0	0	C	64117237	T	C	64117237	3	2	21	1	0	0	0	0	1	0	0	0	17003	1841	64	3	1371	3	UGP2	2	64117237	Missense_Mutation	SNP	T	TCGA-HZ-A77P-01A-11D-A33T-08	37423683	64117237	179082136	10	2073											
CIR1	9541	broad.mit.edu	37	chr2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T													ctttcttttcttcctttgtaINStttttttttctttattgtta							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)acafs	p.T289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	Lys/Ser-rich.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						cttcctttgtatttttttttct	0.381													7	228	---	---	---	---						T	175213713	-	T	175213712	7	5	21	1	0	1	1	0	0	0	0	0	3454	449	16	0	490	0	CIR1	2	175213712	Frame_Shift_Ins	INS	-	TCGA-HZ-A77P-01A-11D-A33T-08	111096475	175213712	67985661	11	2074											
GTF3C3	9330	broad.mit.edu	37	chr2	197649613	197649614	+	Frame_Shift_Ins	INS	-	-	T													tgaggtgccttcttctgaagINStttttttttccagcacaatt							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:197649613_197649614insT	ENST00000263956.3	-	8	1170_1171	c.1081_1082insA	c.(1081-1083)ttcfs	p.F361fs	GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.F361fs	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	361						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						TTCTTCTGAAGTTTTTTTTTCC	0.337													8	242	---	---	---	---						T	197649614	-	T	197649613	7	5	21	1	0	1	1	0	0	0	0	0	6915	1029	36	0	1622	0	GTF3C3	2	197649613	Frame_Shift_Ins	INS	-	TCGA-HZ-A77P-01A-11D-A33T-08	22435901	197649613	45549760	12	2075											
SEC13	6396	broad.mit.edu	37	chr3	10354280	10354280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgaggagtcgtgtcccGcatgctcgtggctcttctcc	11	14	2	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:10354280G>A	ENST00000397117.1	-	4	848	c.257C>T	c.(256-258)gCg>gTg	p.A86V	SEC13_ENST00000337354.4_Missense_Mutation_p.A103V|SEC13_ENST00000397109.3_Missense_Mutation_p.A86V|SEC13_ENST00000350697.3_Missense_Mutation_p.A100V|SEC13_ENST00000383801.2_Missense_Mutation_p.A146V			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	100					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						GTCGTGTCCCGCATGCTCGTG	0.592													6	417					0	0	1	0	0	A	10354280	G	A	10354280	3	1	21	1	0	0	0	0	1	0	0	0	14034	1087	38	1	693	1	SEC13	3	10354280	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		10354280	187668150	13	2076											
TMEM40	55287	broad.mit.edu	37	chr3	12790156	12790158	+	In_Frame_Del	DEL	GAG	GAG	-													tttaaatctctgctatacctGaggaggaggaggatgaagaa							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:12790156_12790158delGAG	ENST00000314124.7	-	3	563_565	c.207_209delCTC	c.(205-210)tca>tc	p.SS69del	TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	69	Ser-rich.					integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TGCTATACCTgaggaggaggagg	0.394													7	496	---	---	---	---						-	12790158	GAG	-	12790156	7	5	21	1	0	1	0	1	0	0	0	0	16223	1294	45	0	532	0	TMEM40	3	12790156	In_Frame_Del	DEL	GAG	TCGA-HZ-A77P-01A-11D-A33T-08	2435876	12790156	185232274	14	2077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443581.1_Missense_Mutation_p.A993T|SCN5A_ENST00000425664.1_Missense_Mutation_p.A993T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A993T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A993T|SCN5A_ENST00000333535.4_Missense_Mutation_p.A993T|SCN5A_ENST00000450102.2_Missense_Mutation_p.A993T|SCN5A_ENST00000455624.2_Missense_Mutation_p.A993T|SCN5A_ENST00000451551.2_Missense_Mutation_p.A993T|SCN5A_ENST00000449557.2_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													10	68					0	0	1	0	0	T	38622673	C	T	38622673	3	4	21	1	0	0	0	0	1	0	0	0	13976	768	27	1	3121	1	SCN5A	3	38622673	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	25832517	38622673	159399757	15	2078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000326151.5_Missense_Mutation_p.Q419K|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.Q441K	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													39	299					4.0492e-12	4.61751e-12	1	1	0	A	101574269	C	A	101574269	3	1	21	1	0	0	0	0	1	0	0	0	10430	827	29	2	1651	2	NFKBIZ	3	101574269	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	62951596	101574269	96448161	16	2079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	487					5.82218e-30	7.07368e-30	1	1	0	A	108110745	C	A	108110745	3	1	21	1	0	0	0	0	1	0	0	0	10082	796	28	2	508	2	MYH15	3	108110745	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	6536476	108110745	89911685	17	2080											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	181					0	0	1	0	0	A	140866041	G	A	140866041	3	1	21	1	0	0	0	0	1	0	0	0	15171	1087	38	1	758	1	SPSB4	3	140866041	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	32755296	140866041	57156389	18	2081											
FGFBP1	9982	broad.mit.edu	37	chr4	15938187	15938187	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccattcttcactttttttttCccctccaccaggagcacctg	4	16	2	0	rs11550451		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr4:15938187C>T	ENST00000382333.1	-	3	363	c.69G>A	c.(67-69)ggG>ggA	p.G23G	FGFBP1_ENST00000259988.2_Silent_p.G23G	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	23					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						CTTTTTTTTTCCCCTCCACCA	0.517													7	382					0	0	1	0	0	T	15938187	C	T	15938187	2	4	21	1	0	0	0	0	0	0	0	1	5893	842	30	2		2	FGFBP1	4	15938187	Silent	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08		15938187	175216089	19	2082											
FRG1	2483	broad.mit.edu	37	chr4	190878555	190878556	+	Frame_Shift_Ins	INS	-	-	A													ttatttgtttcacttaggggINSaaaatggctttgttggcctc							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr4:190878555_190878556insA	ENST00000226798.4	+	6	657_658	c.435_436insA	c.(433-438)ggaaatfs	p.N146fs	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	146					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)		TCACTTAGGGGAAAATGGCTTT	0.351													10	93	---	---	---	---						A	190878556	-	A	190878555	7	5	21	1	0	1	1	0	0	0	0	0	6081	1161	41	0	457	0	FRG1	4	190878555	Frame_Shift_Ins	INS	-	TCGA-HZ-A77P-01A-11D-A33T-08	174940368	190878555	275721	20	2083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000506456.1_Missense_Mutation_p.W414C|AHRR_ENST00000512529.1_Missense_Mutation_p.W404C|AHRR_ENST00000505113.1_Missense_Mutation_p.W558C	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													10	146					4.3838e-07	4.78903e-07	1	1	0	T	434517	G	T	434517	3	4	21	1	0	0	0	0	1	0	0	0	414	1212	42	2	1774	2	AHRR	5	434517	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		434517	180480743	21	2084											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	135					0	0	1	0	0	A	122163297	G	A	122163297	3	1	21	1	0	0	0	0	1	0	0	0	14945	1145	40	1	1519	1	SNX2	5	122163297	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	121728780	122163297	58751963	22	2085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	262					0	0	1	0	0	A	129037148	G	A	129037148	3	1	21	1	0	0	0	0	1	0	0	0	263	1203	42	2	3082	2	ADAMTS19	5	129037148	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	6873851	129037148	51878112	23	2086											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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)			GAGGTGCGCACGGCGCGAGCC	0.697													30	274					0	0	1	0	0	T	140725483	C	T	140725483	3	4	21	1	0	0	0	0	1	0	0	0	11602	536	19	1	1885	1	PCDHGA3	5	140725483	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	11688335	140725483	40189777	24	2087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_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)	9	92					0	0	1	0	0	A	140729951	G	A	140729951	3	1	21	1	0	0	0	0	1	0	0	0	11609	1116	39	1	126	1	PCDHGB1	5	140729951	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	4468	140729951	40185309	25	2088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000513878.1_Missense_Mutation_p.T554M|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.T794M	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)	4	142					0	0	1	0	0	A	141044614	G	A	141044614	3	1	21	1	0	0	0	0	1	0	0	0	837	1145	40	1	2019	1	ARAP3	5	141044614	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	314663	141044614	39870646	26	2089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000476549.2_Missense_Mutation_p.Y79H|BTN3A1_ENST00000425234.2_Missense_Mutation_p.Y79H|BTN3A1_ENST00000414912.2_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													48	412					0	0	1	0	0	C	26406286	T	C	26406286	3	2	21	1	0	0	0	0	1	0	0	0	1565	1638	57	3	241	3	BTN3A1	6	26406286	Missense_Mutation	SNP	T	TCGA-HZ-A77P-01A-11D-A33T-08		26406286	144708781	27	2090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	277					0	0	1	0	0	T	28501886	C	T	28501886	3	4	21	1	0	0	0	0	1	0	0	0	6784	536	19	1	626	1	GPX5	6	28501886	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	2095600	28501886	142613181	28	2091											
PPP1R10	5514	broad.mit.edu	37	chr6	30570264	30570266	+	In_Frame_Del	DEL	GGA	GGA	-													ctcctctggcgcctcggaatGgaggaggaggaggaggaggt							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:30570264_30570266delGGA	ENST00000376511.2	-	19	2712_2714	c.2160_2162delTCC	c.(2158-2163)cca>cc	p.PP720del		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	720	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCCTCGGAATggaggaggaggag	0.67													7	247	---	---	---	---						-	30570266	GGA	-	30570264	7	5	21	1	0	1	0	1	0	0	0	0	12401	1348	47	0	668	0	PPP1R10	6	30570264	In_Frame_Del	DEL	GGA	TCGA-HZ-A77P-01A-11D-A33T-08	2068378	30570264	140544803	29	2092											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-													atggcccaccttcctcccatCaccaccaccaccaccatcac							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)del	p.H966del	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					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						TTCCTCccatcaccaccaccacc	0.645													11	771	---	---	---	---						-	33411203	CAC	-	33411201	7	5	21	1	0	1	0	1	0	0	0	0	15504	826	29	0	2930	0	SYNGAP1	6	33411201	In_Frame_Del	DEL	CAC	TCGA-HZ-A77P-01A-11D-A33T-08	2840937	33411201	137703866	30	2093											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagcagcagcagcagcaGcaacagcagcagcagcagca	11	14	0	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				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						agcagcagcagcaacagcagc	0.736													5	127					0	0	1	0	0	A	45390463	G	A	45390463	2	1	21	1	0	0	0	0	0	0	0	1	13800	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	11979262	45390463	125724604	31	2094											
TNRC18	84629	broad.mit.edu	37	chr7	5430009	5430011	+	In_Frame_Del	DEL	AAG	AAG	-													caaaaaaaaaaaaaaaaaaaAagccagcatcctggacagag					rs34840801		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr7:5430009_5430011delAAG	ENST00000399434.2	-	3	528_530	c.370_372delCTT	c.(370-372)del	p.L124del	TNRC18_ENST00000430969.1_Intron|TNRC18_ENST00000399537.4_Intron			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	0							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)		aaaaaaaaaaaaGCCAGCATCCT	0.547													7	50	---	---	---	---						-	5430011	AAG	-	5430009	7	5	21	1	0	1	0	1	0	0	0	0	16399	29	1	0		0	TNRC18	7	5430009	In_Frame_Del	DEL	AAG	TCGA-HZ-A77P-01A-11D-A33T-08		5430009	153708654	32	2095											
DLX6	1750	broad.mit.edu	37	chr7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC													cagcagcagcaacagcaacaINSgccgccgccgccgccgccgc							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-132)ccc>cGCCcc	p.43_44insR	DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000437541.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					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)					caacagcaacagccgccgccgc	0.698													7	17	---	---	---	---						GCC	96635421	-	GCC	96635420	7	5	21	1	0	1	1	0	0	0	0	0	4603	188	7	0	133	0	DLX6	7	96635420	In_Frame_Ins	INS	-	TCGA-HZ-A77P-01A-11D-A33T-08	91205411	96635420	62503243	33	2096											
ZAN	7455	broad.mit.edu	37	chr7	100384030	100384033	+	RNA	DEL	TTGT	TTGT	-													cctccaaagtttttcttttcTtgtttgtttgttttttgaga					rs71973809		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr7:100384030_100384033delTTGT	ENST00000542585.1	+	0	7124				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_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)			ttttcttttcttgtttgtttgttt	0.505													4	4	---	---	---	---						-	100384033	TTGT	-	100384030	6	5	21	0	1	1	0	1	0	0	0	0	17573	1624	56	0		0	ZAN	7	100384030	RNA	DEL	TTGT	TCGA-HZ-A77P-01A-11D-A33T-08	3748610	100384030	58754633	34	2097											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000252512.9_Missense_Mutation_p.R605H|XPO7_ENST00000433566.4_Missense_Mutation_p.R606H			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													11	101					0	0	1	0	0	A	21846540	G	A	21846540	3	1	21	1	0	0	0	0	1	0	0	0	17509	1145	40	1	1928	1	XPO7	8	21846540	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		21846540	124517482	35	2098											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	134					0	0	1	0	0	A	88365930	G	A	88365930	3	1	21	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	36	2099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MATN2_ENST00000524308.1_Silent_p.D848D|MATN2_ENST00000522025.2_Silent_p.D605D|MATN2_ENST00000521689.1_Silent_p.D870D|MATN2_ENST00000520016.1_Silent_p.D889D|RPL30_ENST00000518164.1_Intron	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													3	49					0	0	1	0	0	T	99045355	C	T	99045355	2	4	21	1	0	0	0	0	0	0	0	1	9384	477	17	2		2	MATN2	8	99045355	Silent	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	10679425	99045355	47318667	37	2100											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003175.1	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													42	397					0	0	1	0	0	G	120770369	A	G	120770369	2	3	21	1	0	0	0	0	0	0	0	1	15581	224	8	3		3	TAF2	8	120770369	Silent	SNP	A	TCGA-HZ-A77P-01A-11D-A33T-08	21725014	120770369	25593653	38	2101											
NFIL3	4783	broad.mit.edu	37	chr9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-													agcttcattatttttccgccTtttttcccaatacatagcat							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)ggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81					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						TTTTTCCGCCTTTTTTCCCAA	0.423													7	854	---	---	---	---						-	94172779	T	-	94172779	7	5	21	1	0	1	0	1	0	0	0	0	10420	1608	56	0	1154	0	NFIL3	9	94172779	Frame_Shift_Del	DEL	T	TCGA-HZ-A77P-01A-11D-A33T-08		94172779	47040652	39	2102											
EHMT1	79813	broad.mit.edu	37	chr9	140637837	140637837	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttagcttgcttgccttttGttttagcagctgcagtatct	8	8	1	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr9:140637837G>T	ENST00000460843.1	+	5	865	c.838G>T	c.(838-840)Gtt>Ttt	p.V280F	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.V249F|EHMT1_ENST00000462484.1_Missense_Mutation_p.V280F	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	280					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	p.V249F(2)|p.V280F(2)		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)		cttgccttttgttttAGCAGC	0.358													11	110					1.08611e-07	1.19656e-07	1	1	0	T	140637837	G	T	140637837	3	4	21	1	0	0	0	0	1	0	0	0	5009	1377	48	2	856	2	EHMT1	9	140637837	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	46465058	140637837	575594	40	2103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.P363L			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													24	242					0	0	1	0	0	A	29822208	G	A	29822208	3	1	21	1	0	0	0	0	1	0	0	0	15477	1348	47	2	5680	2	SVIL	10	29822208	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		29822208	105712539	41	2104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000602371.1_Missense_Mutation_p.A459V|CUL2_ENST00000374742.1_Missense_Mutation_p.A516V|CUL2_ENST00000374751.3_Missense_Mutation_p.A516V|CUL2_ENST00000537177.1_Missense_Mutation_p.A535V|CUL2_ENST00000374746.1_Missense_Mutation_p.A516V|CUL2_ENST00000374749.3_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													18	127					0	0	1	0	0	A	35317808	G	A	35317808	3	1	21	1	0	0	0	0	1	0	0	0	4078	1087	38	1	714	1	CUL2	10	35317808	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	5495600	35317808	100216939	42	2105											
AGAP11	119385	broad.mit.edu	37	chr10	88753099	88753100	+	RNA	INS	-	-	T													tattttgaaaatgagtttacINSttttttttttaatgaatagg							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:88753099_88753100insT	ENST00000444431.1	+	0	64				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										AATGAGTTTACTTTTTTTTTTA	0.307													10	116	---	---	---	---						T	88753100	-	T	88753099	6	5	21	0	1	1	1	0	0	0	0	0	366	580	20	0		0	AGAP11	10	88753099	RNA	INS	-	TCGA-HZ-A77P-01A-11D-A33T-08	53435291	88753099	46781648	43	2106											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461105.1_Silent_p.P52P|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000343195.4_Intron|KCNIP2_ENST00000356640.2_Silent_p.P52P|KCNIP2_ENST00000370046.1_Intron|KCNIP2_ENST00000353068.3_Intron|KCNIP2_ENST00000348850.5_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													13	82					0	0	1	0	0	A	103590842	G	A	103590842	2	1	21	1	0	0	0	0	0	0	0	1	8084	987	35	2		2	KCNIP2	10	103590842	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	14837743	103590842	31943905	44	2107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000403482.3_Silent_p.P623P|ARNTL_ENST00000389707.4_Silent_p.P624P|ARNTL_ENST00000396441.3_Silent_p.P624P|ARNTL_ENST00000389708.3_3'UTR|ARNTL_ENST00000361003.4_Silent_p.P507P|ARNTL_ENST00000403290.1_Silent_p.P625P|ARNTL_ENST00000403510.3_Silent_p.P581P	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													28	305					1.7367e-05	1.83553e-05	1	1	0	T	13408297	G	T	13408297	2	4	21	1	0	0	0	0	0	0	0	1	966	1074	38	4		4	ARNTL	11	13408297	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		13408297	121598219	45	2108											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379115.4_Silent_p.N128N|PAX6_ENST00000241001.8_Silent_p.N114N|PAX6_ENST00000379111.2_Silent_p.N114N|PAX6_ENST00000379123.5_Silent_p.N114N|PAX6_ENST00000379129.2_Silent_p.N128N|PAX6_ENST00000379107.2_Silent_p.N128N|PAX6_ENST00000379132.3_Silent_p.N114N	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				30	253					0	0	1	0	0	A	31823124	G	A	31823124	2	1	21	1	0	0	0	0	0	0	0	1	11530	1136	40	1		1	PAX6	11	31823124	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	18414827	31823124	103183392	46	2109											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	270					3.11337e-16	3.67944e-16	1	1	0	T	43852525	G	T	43852525	5	4	21	1	0	0	0	0	0	0	1	0	7422	956	33	2	527	2	HSD17B12	11	43852525	Splice_Site	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	12029401	43852525	91153991	47	2110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	475					9.62906e-15	1.12773e-14	1	1	0	A	48510911	C	A	48510911	3	1	21	1	0	0	0	0	1	0	0	0	11090	477	17	2	569	2	OR4A47	11	48510911	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	4658386	48510911	86495605	48	2111											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394227.3_Silent_p.N191N|SIPA1_ENST00000527525.1_Silent_p.N191N|SIPA1_ENST00000534313.1_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													27	270					0	0	1	0	0	T	65408965	C	T	65408965	2	4	21	1	0	0	0	0	0	0	0	1	14383	535	19	1		1	SIPA1	11	65408965	Silent	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	16898054	65408965	69597551	49	2112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000421552.1_Intron|KLC2_ENST00000417856.1_Intron|KLC2_ENST00000394066.2_Intron|KLC2_ENST00000394067.2_Intron|KLC2_ENST00000394078.1_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													10	129					0	0	1	0	0	A	66034032	T	A	66034032	3	1	21	1	0	0	0	0	1	0	0	0	8377	1566	54	5		5	KLC2	11	66034032	Missense_Mutation	SNP	T	TCGA-HZ-A77P-01A-11D-A33T-08	625067	66034032	68972484	50	2113											
MCAM	4162	broad.mit.edu	37	chr11	119182040	119182040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccaggtcgttggaggccGtgcattcaacacctgtctcc	11	14	2	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:119182040G>A	ENST00000392814.1	-	7	2075	c.1346C>T	c.(1345-1347)aCg>aTg	p.T449M	MCAM_ENST00000264036.4_Missense_Mutation_p.T500M			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	500	Ig-like C2-type 3.				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)		GTTGGAGGCCGTGCATTCAAC	0.617													4	144					0	0	1	0	0	A	119182040	G	A	119182040	3	1	21	1	0	0	0	0	1	0	0	0	9418	1145	40	1	461	1	MCAM	11	119182040	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	53148008	119182040	15824476	51	2114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	463					0	0	1	0	0	A	4479899	G	A	4479899	2	1	21	1	0	0	0	0	0	0	0	1	5885	1136	40	1		1	FGF23	12	4479899	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		4479899	129371996	52	2115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	338					0	0	1	0	0	A	20801641	G	A	20801641	3	1	21	1	0	0	0	0	1	0	0	0	11684	1145	40	1	2635	1	PDE3A	12	20801641	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	16321742	20801641	113050254	53	2116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)			7	79					0.00621372	0.00626188	1	1	0	A	25398284	C	A	25398284	3	1	21	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	4596643	25398284	108453611	54	2117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	51					0	0	1	0	0	T	43847747	C	T	43847747	3	4	21	1	0	0	0	0	1	0	0	0	265	661	23	1	4120	1	ADAMTS20	12	43847747	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	18449463	43847747	90004148	55	2118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	379					0	0	1	0	0	T	48367243	C	T	48367243	3	4	21	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	56	2119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000423955.2_Missense_Mutation_p.A11D|KRT86_ENST00000544024.1_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													7	393					0.00198382	0.0020468	1	1	0	A	52695732	C	A	52695732	3	1	21	1	0	0	0	0	1	0	0	0	8543	739	26	2	34	2	KRT86	12	52695732	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	4328489	52695732	81156163	57	2120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	239					5.26018e-13	6.05153e-13	1	1	0	T	105150764	G	T	105150764	3	4	21	1	0	0	0	0	1	0	0	0	3421	1116	39	4	252	4	CHST11	12	105150764	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	52455032	105150764	28701131	58	2121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	290					0	0	1	0	0	T	32783787	A	T	32783787	3	4	21	1	0	0	0	0	1	0	0	0	6098	98	4	5	4471	5	FRY	13	32783787	Missense_Mutation	SNP	A	TCGA-HZ-A77P-01A-11D-A33T-08		32783787	82386091	59	2122											
VPS36	51028	broad.mit.edu	37	chr13	52990060	52990061	+	Splice_Site	INS	-	-	A													ttctctgcaagcagcaacctINSaaaaaaaaacaacaaaaaaa							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr13:52990060_52990061insA	ENST00000378060.4	-	14	1095		c.e14-2			NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)						cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	p.?(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)		AGCAGCAACCTAAAAAAAAACA	0.396													10	475	---	---	---	---						A	52990061	-	A	52990060	8	5	21	1	0	1	1	0	0	0	1	0	17264	1536	53	0	98	0	VPS36	13	52990060	Splice_Site	INS	-	TCGA-HZ-A77P-01A-11D-A33T-08	20206273	52990060	62179818	60	2123											
SLITRK5	26050	broad.mit.edu	37	chr13	88329794	88329796	+	In_Frame_Del	DEL	CGG	CGG	-													aacatgcagtacagcgtgtaCggcggcggcggcggcacggg							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr13:88329794_88329796delCGG	ENST00000325089.6	+	2	2370_2372	c.2151_2153delCGG	c.(2149-2154)tac>ta	p.YG717del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	717						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)					ACAGCGTGTACGGCGGCGGCGGC	0.645													8	282	---	---	---	---						-	88329796	CGG	-	88329794	7	5	21	1	0	1	0	1	0	0	0	0	14800	547	19	0	2153	0	SLITRK5	13	88329794	In_Frame_Del	DEL	CGG	TCGA-HZ-A77P-01A-11D-A33T-08	35339734	88329794	26840084	61	2124											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Silent_p.D261D|ESR2_ENST00000554572.1_Silent_p.D261D|ESR2_ENST00000553796.1_Silent_p.D261D|ESR2_ENST00000542956.1_Silent_p.D261D|ESR2_ENST00000353772.3_Silent_p.D261D|ESR2_ENST00000555278.1_Silent_p.D261D|ESR2_ENST00000357782.2_Silent_p.D261D|ESR2_ENST00000341099.4_Silent_p.D261D|ESR2_ENST00000267525.6_Silent_p.D261D	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													56	190					0	0	1	0	0	A	64727336	G	A	64727336	2	1	21	1	0	0	0	0	0	0	0	1	5285	1136	40	1		1	ESR2	14	64727336	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		64727336	42622204	62	2125											
SRP14	6727	broad.mit.edu	37	chr15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-													gctgttgctgctgcggcaggTgctgctgctgctgctgctgc							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)del	p.A116del	SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-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;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478													9	257	---	---	---	---						-	40328599	TGC	-	40328597	7	5	21	1	0	1	0	1	0	0	0	0	15209	1683	59	0	66	0	SRP14	15	40328597	In_Frame_Del	DEL	TGC	TCGA-HZ-A77P-01A-11D-A33T-08		40328597	62202795	63	2126											
TLN2	83660	broad.mit.edu	37	chr15	63076122	63076123	+	Frame_Shift_Del	DEL	CA	CA	-													aagacccctattttaagatgCacacacacactggtgcccac							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr15:63076122_63076123delCA	ENST00000472902.1	+	9	1201_1202	c.948_949delCA	c.(946-951)tgcafs	p.CT316fs	TLN2_ENST00000561311.1_Intron|TLN2_ENST00000306829.6_Intron			Q9Y4G6	TLN2_HUMAN	talin 2	0	FERM.|Interaction with PIP5K1C (By similarity).				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						TTTTAAGATGCACACACACACT	0.554													8	312	---	---	---	---						-	63076123	CA	-	63076122	7	5	21	1	0	1	0	1	0	0	0	0	16008	725	25	0		0	TLN2	15	63076122	Frame_Shift_Del	DEL	CA	TCGA-HZ-A77P-01A-11D-A33T-08	22747525	63076122	39455270	64	2127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000318282.5_Intron|MKL2_ENST00000574045.1_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													5	64					0.000602214	0.000626303	1	1	0	T	14280893	G	T	14280893	5	4	21	1	0	0	0	0	0	0	1	0	9650	1276	44	2		2	MKL2	16	14280893	Splice_Site	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		14280893	76073860	65	2128											
CCDC135	84229	broad.mit.edu	37	chr16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-													gaggtcctgagggagaaggtGgaggaggaggaggaggccga							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtg>gt	p.VE8del	CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	8						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						Gggagaaggtggaggaggaggag	0.591													8	398	---	---	---	---						-	57731887	GGA	-	57731885	7	5	21	1	0	1	0	1	0	0	0	0	2787	1335	47	0	26	0	CCDC135	16	57731885	In_Frame_Del	DEL	GGA	TCGA-HZ-A77P-01A-11D-A33T-08	43450992	57731885	32622868	66	2129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)cacfs	p.H149fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.H149fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.H149fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.H149fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.H149fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.H149fs	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)			27	204	---	---	---	---						A	7578485	-	A	7578484	7	5	21	1	0	1	1	0	0	0	0	0	16442	1174	41	0	852	0	TP53	17	7578484	Frame_Shift_Ins	INS	-	TCGA-HZ-A77P-01A-11D-A33T-08		7578484	73616726	67	2130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535788.1_Missense_Mutation_p.L73V|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Missense_Mutation_p.L73V|UBB_ENST00000395837.1_Missense_Mutation_p.L73V	NM_018955.2	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													39	275					0	0	1	0	0	G	16285438	C	G	16285438	3	3	21	1	0	0	0	0	1	0	0	0	16902	912	32	5	219	5	UBB	17	16285438	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	8706954	16285438	64909772	68	2131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	73					0	0	1	0	0	G	79983019	T	G	79983019	3	3	21	1	0	0	0	0	1	0	0	0	9047	1522	53	3	511	3	LRRC45	17	79983019	Missense_Mutation	SNP	T	TCGA-HZ-A77P-01A-11D-A33T-08	63697581	79983019	1212191	69	2132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400111.3_Missense_Mutation_p.R503Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R485Q|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R503Q|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R503Q	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													31	206					0	0	1	0	0	T	5419762	C	T	5419762	3	4	21	1	0	0	0	0	1	0	0	0	5182	652	23	1	1853	1	EPB41L3	18	5419762	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08		5419762	72657486	70	2133											
SEH1L	81929	broad.mit.edu	37	chr18	12986927	12986929	+	In_Frame_Del	DEL	TCC	TCC	-													tccagttatgcccagctcctTcctcctcctcctcctcctct							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr18:12986927_12986929delTCC	ENST00000399892.2	+	9	1238_1240	c.1137_1139delTCC	c.(1135-1140)ctt>ct	p.LP379del	SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	0					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						CCCAGCTCCTtcctcctcctcct	0.522													11	170	---	---	---	---						-	12986929	TCC	-	12986927	7	5	21	1	0	1	0	1	0	0	0	0	14063	1770	62	0	1188	0	SEH1L	18	12986927	In_Frame_Del	DEL	TCC	TCGA-HZ-A77P-01A-11D-A33T-08	7567165	12986927	65090321	71	2134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000564999.1_Missense_Mutation_p.R174Q|TCF4_ENST00000540999.1_Missense_Mutation_p.R150Q|TCF4_ENST00000564403.2_Missense_Mutation_p.R174Q|TCF4_ENST00000566286.1_Missense_Mutation_p.R172Q|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000568740.1_Missense_Mutation_p.R149Q|TCF4_ENST00000561992.1_Missense_Mutation_p.R44Q|TCF4_ENST00000570177.2_Missense_Mutation_p.R44Q|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000565018.2_Missense_Mutation_p.R174Q|TCF4_ENST00000537856.3_Missense_Mutation_p.R44Q|TCF4_ENST00000537578.1_Missense_Mutation_p.R150Q|TCF4_ENST00000568673.1_Missense_Mutation_p.R150Q|TCF4_ENST00000356073.4_Missense_Mutation_p.R174Q|TCF4_ENST00000564228.1_Missense_Mutation_p.R103Q|TCF4_ENST00000544241.2_Missense_Mutation_p.R103Q|TCF4_ENST00000398339.1_Missense_Mutation_p.R276Q|TCF4_ENST00000543082.1_Missense_Mutation_p.R132Q	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													24	122					0	0	1	0	0	T	53017618	C	T	53017618	3	4	21	1	0	0	0	0	1	0	0	0	15755	884	31	1	1542	1	TCF4	18	53017618	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	40030691	53017618	25059630	72	2135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	345					0	0	1	0	0	T	4219626	C	T	4219626	2	4	21	1	0	0	0	0	0	0	0	1	649	535	19	1		1	ANKRD24	19	4219626	Silent	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08		4219626	54909357	73	2136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	257					0	0	1	0	0	T	15839311	C	T	15839311	3	4	21	1	0	0	0	0	1	0	0	0	10954	893	31	1	460	1	OR10H2	19	15839311	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	11619685	15839311	43289672	74	2137											
C19orf55	148137	broad.mit.edu	37	chr19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-													ccctgcagcaaagcctccatCtcctcctcctcctccctcag							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atc>at	p.IS213del	C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	213	Ser-rich.									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)			AAGCCTCCATCTCCTCCTCCTCC	0.631													8	914	---	---	---	---						-	36255949	CTC	-	36255947	7	5	21	1	0	1	0	1	0	0	0	0	1949	903	32	0	665	0	C19orf55	19	36255947	In_Frame_Del	DEL	CTC	TCGA-HZ-A77P-01A-11D-A33T-08	20416636	36255947	22873036	75	2138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MZF1_ENST00000599369.1_Missense_Mutation_p.E601D|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594234.1_3'UTR	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													9	52					0	0	1	0	0	G	59073841	C	G	59073841	3	3	21	1	0	0	0	0	1	0	0	0	10156	564	20	5	405	5	MZF1	19	59073841	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	22817894	59073841	55142	76	2139											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000492344.1_5'UTR|DEFB119_ENST00000376321.3_Missense_Mutation_p.L12P|DEFB119_ENST00000376315.2_Missense_Mutation_p.L12P			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													46	352					0	0	1	0	0	G	29978252	A	G	29978252	3	3	21	1	0	0	0	0	1	0	0	0	4434	188	7	3	481	3	DEFB119	20	29978252	Missense_Mutation	SNP	A	TCGA-HZ-A77P-01A-11D-A33T-08		29978252	33047268	77	2140											
SYCP2	10388	broad.mit.edu	37	chr20	58452518	58452519	+	Frame_Shift_Ins	INS	-	-	T													aatttgagagatctttatagINStttttttttgttttggttgc							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr20:58452518_58452519insT	ENST00000357552.3	-	33	3296_3297	c.3071_3072insA	c.(3070-3072)atafs	p.I1024fs	SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1024fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1024					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)			GATCTTTATAGTTTTTTTTTGT	0.327													7	197	---	---	---	---						T	58452519	-	T	58452518	7	5	21	1	0	1	1	0	0	0	0	0	15489	1020	36	0	1572	0	SYCP2	20	58452518	Frame_Shift_Ins	INS	-	TCGA-HZ-A77P-01A-11D-A33T-08	28474266	58452518	4573002	78	2141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.A184S|SON_ENST00000381679.4_Missense_Mutation_p.A184S|SON_ENST00000290239.6_Missense_Mutation_p.A184S	NM_138927.1	NP_620305.1	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	36	278					2.91434e-09	3.29447e-09	1	1	0	T	34922087	G	T	34922087	3	4	21	1	0	0	0	0	1	0	0	0	14980	1319	46	2	560	2	SON	21	34922087	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		34922087	13207808	79	2142											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404234.3_Missense_Mutation_p.S746L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S746L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.S519L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S519L|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S746L|SEZ6L_ENST00000248933.6_Missense_Mutation_p.S746L	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													29	223					0	0	1	0	0	T	26743709	C	T	26743709	3	4	21	1	0	0	0	0	1	0	0	0	14197	893	31	1	2279	1	SEZ6L	22	26743709	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08		26743709	24560857	80	2143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	110					5.18039e-06	5.61209e-06	1	1	0	T	299380	G	T	299380	2	4	21	1	0	0	0	0	0	0	0	1	12438	1164	41	2		2	PPP2R3B	23	299380	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		299380	154971180	81	2144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	13					0	0	1	0	0	A	45011191	G	A	45011191	2	1	21	1	0	0	0	0	0	0	0	1	4129	962	34	2		2	CXorf36	23	45011191	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	44711811	45011191	110259369	82	2145											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													4	142					0	0	1	0	0	A	150156360	G	A	150156360	2	1	21	1	0	0	0	0	0	0	0	1	7268	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	105145169	150156360	5114200	83	2146											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_689699.2	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													113	479					2.96211e-45	3.63119e-45	1	1	0	T	879470	G	T	879470	3	4	22	1	0	0	0	0	1	0	0	0	13868	962	34	2	2033	2	SAMD11	1	879470	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08		879470	248371151	1	2147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056473.2	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													161	569					0	0	1	0	0	T	892379	C	T	892379	2	4	22	1	0	0	0	0	0	0	0	1	10560	639	23	1		1	NOC2L	1	892379	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12909	892379	248358242	2	2148											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056473.2	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													90	336					0	0	1	0	0	T	892589	C	T	892589	3	4	22	1	0	0	0	0	1	0	0	0	10560	893	31	1	2073	1	NOC2L	1	892589	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	210	892589	248358032	3	2149											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	307					0	0	1	0	0	T	897248	C	T	897248	4	4	22	1	0	0	0	0	0	1	0	0	8415	644	23	1	546	1	KLHL17	1	897248	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4659	897248	248353373	4	2150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	113					0	0	1	0	0	T	979372	C	T	979372	2	4	22	1	0	0	0	0	0	0	0	1	394	874	31	1		1	AGRN	1	979372	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82124	979372	248271249	5	2151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	66					0	0	1	0	0	T	989173	C	T	989173	3	4	22	1	0	0	0	0	1	0	0	0	394	768	27	1	5826	1	AGRN	1	989173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9801	989173	248261448	6	2152											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	55					0	0	1	0	0	T	989228	C	T	989228	3	4	22	1	0	0	0	0	1	0	0	0	394	710	25	2	5881	2	AGRN	1	989228	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	989228	248261393	7	2153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000482816.1_5'UTR|C1orf159_ENST00000379319.1_Missense_Mutation_p.F117L|C1orf159_ENST00000437760.1_Missense_Mutation_p.F117L|C1orf159_ENST00000421241.2_Missense_Mutation_p.F117L|C1orf159_ENST00000379339.1_Missense_Mutation_p.F153L|C1orf159_ENST00000294576.5_Missense_Mutation_p.F117L|C1orf159_ENST00000379320.1_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													17	180					0	0	1	0	0	G	1021354	A	G	1021354	3	3	22	1	0	0	0	0	1	0	0	0	2021	43	2	3	263	3	C1orf159	1	1021354	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32126	1021354	248229267	8	2154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379289.1_Silent_p.R83R|TTLL10_ENST00000379288.3_Silent_p.R10R			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													28	78					0	0	1	0	0	A	1115463	G	A	1115463	2	1	22	1	0	0	0	0	0	0	0	1	16785	1248	44	2		2	TTLL10	1	1115463	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94109	1115463	248135158	9	2155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	478					0	0	1	0	0	A	1153037	G	A	1153037	3	1	22	1	0	0	0	0	1	0	0	0	14016	1087	38	1	148	1	SDF4	1	1153037	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37574	1153037	248097584	10	2156											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	302					0	0	1	0	0	T	1154014	C	T	1154014	5	4	22	1	0	0	0	0	0	0	1	0	14016	927	32	2	476	2	SDF4	1	1154014	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	977	1154014	248096607	11	2157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000349431.6_Missense_Mutation_p.V163I|UBE2J2_ENST00000348298.7_Missense_Mutation_p.V111I|UBE2J2_ENST00000400929.2_Missense_Mutation_p.V111I|UBE2J2_ENST00000491779.1_5'UTR|UBE2J2_ENST00000400930.4_Missense_Mutation_p.V179I|UBE2J2_ENST00000339385.6_Missense_Mutation_p.V128I|UBE2J2_ENST00000360466.2_Missense_Mutation_p.V163I	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													10	583					0	0	1	0	0	T	1191433	C	T	1191433	3	4	22	1	0	0	0	0	1	0	0	0	16922	565	20	2	300	2	UBE2J2	1	1191433	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37419	1191433	248059188	12	2158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348298.7_5'UTR|UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000400930.4_Missense_Mutation_p.D20Y|UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000360466.2_Missense_Mutation_p.D20Y	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													30	1803					1.5739e-10	1.67034e-10	1	1	0	A	1203315	C	A	1203315	3	1	22	1	0	0	0	0	1	0	0	0	16922	855	30	2	797	2	UBE2J2	1	1203315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11882	1203315	248047306	13	2159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379116.5_Missense_Mutation_p.S306G|SCNN1D_ENST00000400928.3_Missense_Mutation_p.S142G					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													39	170					0	0	1	0	0	G	1222152	A	G	1222152	3	3	22	1	0	0	0	0	1	0	0	0	13983	304	11	3	640	3	SCNN1D	1	1222152	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18837	1222152	248028469	14	2160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379116.5_Missense_Mutation_p.P577S|SCNN1D_ENST00000400928.3_Missense_Mutation_p.P413S					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													33	277					0	0	1	0	0	T	1225717	C	T	1225717	3	4	22	1	0	0	0	0	1	0	0	0	13983	623	22	2	1473	2	SCNN1D	1	1225717	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3565	1225717	248024904	15	2161											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379116.5_Missense_Mutation_p.T645M|SCNN1D_ENST00000400928.3_Missense_Mutation_p.T481M					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													14	61					0	0	1	0	0	T	1226291	C	T	1226291	3	4	22	1	0	0	0	0	1	0	0	0	13983	536	19	1	1690	1	SCNN1D	1	1226291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	574	1226291	248024330	16	2162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1255909G>A	ENST00000540437.1	-	5	600	c.144_splice	c.e5-1	p.R49_splice	CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000435064.1_Splice_Site_p.R43_splice|CPSF3L_ENST00000545578.1_Splice_Site_p.R14_splice|CPSF3L_ENST00000450926.2_Splice_Site_p.R43_splice|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000411962.1_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													119	415					0	0	1	0	0	A	1255909	G	A	1255909	5	1	22	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	2163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_689414.1	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													5	200					0	0	1	0	0	T	1268422	C	T	1268422	3	4	22	1	0	0	0	0	1	0	0	0	15621	623	22	2	1411	2	TAS1R3	1	1268422	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12513	1268422	247982199	18	2164											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_689414.1	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													16	91					4.7546e-09	4.99022e-09	1	1	0	T	1269749	G	T	1269749	3	4	22	1	0	0	0	0	1	0	0	0	15621	1000	35	2	2486	2	TAS1R3	1	1269749	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1327	1269749	247980872	19	2165											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	101					5.35356e-11	5.69577e-11	1	1	0	A	1271741	C	A	1271741	3	1	22	1	0	0	0	0	1	0	0	0	4861	796	28	2	222	2	DVL1	1	1271741	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1992	1271741	247978880	20	2166	19	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	124					0	0	1	0	0	A	1271751	G	A	1271751	3	1	22	1	0	0	0	0	1	0	0	0	4861	1116	39	1	232	1	DVL1	1	1271751	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10	1271751	247978870	21	2167	19	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	328					0	0	1	0	0	T	1275450	C	T	1275450	3	4	22	1	0	0	0	0	1	0	0	0	4861	652	23	1	1167	1	DVL1	1	1275450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3699	1275450	247975171	22	2168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	105					0	0	1	0	0	T	1275821	C	T	1275821	3	4	22	1	0	0	0	0	1	0	0	0	4861	652	23	1	1384	1	DVL1	1	1275821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	371	1275821	247974800	23	2169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	103					0	0	1	0	0	T	1386075	C	T	1386075	2	4	22	1	0	0	0	0	0	0	0	1	1074	535	19	1		1	ATAD3C	1	1386075	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110254	1386075	247864546	24	2170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	75					3.86212e-05	3.93988e-05	1	1	0	A	1389854	C	A	1389854	3	1	22	1	0	0	0	0	1	0	0	0	1074	797	28	2	366	2	ATAD3C	1	1389854	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3779	1389854	247860767	25	2171											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1455928G>A	ENST00000378755.5	+	7	919	c.824_splice	c.e7-1	p.R275_splice	ATAD3A_ENST00000536055.1_Splice_Site_p.R148_splice|ATAD3A_ENST00000378756.3_Splice_Site_p.R227_splice	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													102	319					0	0	1	0	0	A	1455928	G	A	1455928	5	1	22	1	0	0	0	0	0	0	1	0	1072	1188	41	2	851	2	ATAD3A	1	1455928	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66074	1455928	247794693	26	2172											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	136					0	0	1	0	0	A	1458924	G	A	1458924	3	1	22	1	0	0	0	0	1	0	0	0	1072	1087	38	1	1118	1	ATAD3A	1	1458924	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2996	1458924	247791697	27	2173											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340677.5_Silent_p.R184R|CDK11B_ENST00000341832.6_Silent_p.R150R|CDK11B_ENST00000317673.7_Silent_p.R195R			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													12	97					0	0	1	0	0	A	1580536	G	A	1580536	2	1	22	1	0	0	0	0	0	0	0	1	3149	1102	38	1		1	CDK11B	1	1580536	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121612	1580536	247670085	28	2174											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000246421.4_Silent_p.G214G|RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000400924.1_Silent_p.G214G|SLC35E2_ENST00000475229.1_5'UTR	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													9	164					0	0	1	0	0	G	1666219	A	G	1666219	2	3	22	1	0	0	0	0	0	0	0	1	14640	146	6	3		3	SLC35E2	1	1666219	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	85683	1666219	247584402	29	2175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000246421.4_Missense_Mutation_p.M152T|SLC35E2_ENST00000400924.1_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													10	75					0	0	1	0	0	G	1670364	A	G	1670364	3	3	22	1	0	0	0	0	1	0	0	0	14640	217	8	3	1611	3	SLC35E2	1	1670364	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4145	1670364	247580257	30	2176											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002074.3	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													40	408					0	0	1	0	0	T	1718817	C	T	1718817	3	4	22	1	0	0	0	0	1	0	0	0	6557	739	26	2	50	2	GNB1	1	1718817	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48453	1718817	247531804	31	2177											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	519					3.95532e-38	4.76227e-38	1	1	0	A	1956825	C	A	1956825	2	1	22	1	0	0	0	0	0	0	0	1	6204	903	32	2		2	GABRD	1	1956825	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	238008	1956825	247293796	32	2178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	513					0	0	1	0	0	T	1961614	C	T	1961614	3	4	22	1	0	0	0	0	1	0	0	0	6204	643	23	1	1286	1	GABRD	1	1961614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4789	1961614	247289007	33	2179											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	40					0	0	1	0	0	C	2160432	T	C	2160432	3	2	22	1	0	0	0	0	1	0	0	0	14412	1580	55	3	229	3	SKI	1	2160432	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	198818	2160432	247090189	34	2180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	99					0	0	1	0	0	T	2160862	C	T	2160862	2	4	22	1	0	0	0	0	0	0	0	1	14412	755	27	1		1	SKI	1	2160862	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	430	2160862	247089759	35	2181											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	113					5.04308e-16	5.52873e-16	1	1	0	T	2160910	G	T	2160910	3	4	22	1	0	0	0	0	1	0	0	0	14412	962	34	2	707	2	SKI	1	2160910	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	2160910	247089711	36	2182											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2290153G>A	ENST00000378531.3	-	9	920	c.745_splice	c.e9-1	p.S249_splice	MORN1_ENST00000378529.3_Splice_Site_p.S249_splice|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													8	80					0	0	1	0	0	A	2290153	G	A	2290153	5	1	22	1	0	0	0	0	0	0	1	0	9757	1101	38	1	770	1	MORN1	1	2290153	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129243	2290153	246960468	37	2183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	514					0	0	1	0	0	T	2318897	C	T	2318897	3	4	22	1	0	0	0	0	1	0	0	0	9757	661	23	1	1218	1	MORN1	1	2318897	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28744	2318897	246931724	38	2184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	402					0	0	1	0	0	A	2452547	G	A	2452547	3	1	22	1	0	0	0	0	1	0	0	0	11466	1086	38	1	1974	1	PANK4	1	2452547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133650	2452547	246798074	39	2185											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													172	652					0	0	1	0	0	T	2523018	C	T	2523018	3	4	22	1	0	0	0	0	1	0	0	0	9694	536	19	1	129	1	MMEL1	1	2523018	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70471	2523018	246727603	40	2186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	303					0.0215528	0.0216335	1	1	0	A	2524320	C	A	2524320	3	1	22	1	0	0	0	0	1	0	0	0	9694	826	29	2	406	2	MMEL1	1	2524320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1302	2524320	246726301	41	2187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	369					1.50424e-25	1.72683e-25	1	1	0	A	2938529	C	A	2938529	2	1	22	1	0	0	0	0	0	0	0	1	218	900	32	2		2	ACTRT2	1	2938529	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	414209	2938529	246312092	42	2188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000514189.1_Silent_p.F157F|PRDM16_ENST00000511072.1_Silent_p.F157F|PRDM16_ENST00000442529.2_Silent_p.F156F|PRDM16_ENST00000441472.2_Silent_p.F156F|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Silent_p.F156F|PRDM16_ENST00000270722.5_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"								105	456					0	0	1	0	0	T	3301745	C	T	3301745	2	4	22	1	0	0	0	0	0	0	0	1	12509	912	32	2		2	PRDM16	1	3301745	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	363216	3301745	245948876	43	2189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413250.2_Missense_Mutation_p.A225V|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A233V|ARHGEF16_ENST00000378371.2_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													41	474					0	0	1	0	0	T	3394527	C	T	3394527	3	4	22	1	0	0	0	0	1	0	0	0	896	739	26	2	1600	2	ARHGEF16	1	3394527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92782	3394527	245856094	44	2190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	169					6.31075e-24	7.19376e-24	1	1	0	T	3413807	G	T	3413807	2	4	22	1	0	0	0	0	0	0	0	1	9512	958	34	2		2	MEGF6	1	3413807	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19280	3413807	245836814	45	2191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	203					0	0	1	0	0	T	3432077	C	T	3432077	3	4	22	1	0	0	0	0	1	0	0	0	9512	768	27	1	4134	1	MEGF6	1	3432077	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18270	3432077	245818544	46	2192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	150					0	0	1	0	0	G	3683818	A	G	3683818	3	3	22	1	0	0	0	0	1	0	0	0	2820	15	1	3	1590	3	CCDC27	1	3683818	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	251741	3683818	245566803	47	2193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	295					0	0	1	0	0	G	3699296	A	G	3699296	3	3	22	1	0	0	0	0	1	0	0	0	9049	362	13	3	421	3	LRRC47	1	3699296	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15478	3699296	245551325	48	2194											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	284					0	0	1	0	0	A	3703686	G	A	3703686	2	1	22	1	0	0	0	0	0	0	0	1	9049	1306	46	2		2	LRRC47	1	3703686	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4390	3703686	245546935	49	2195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	571					5.50884e-06	5.65664e-06	1	1	0	T	3800135	G	T	3800135	4	4	22	1	0	0	0	0	0	1	0	0	4481	943	33	2	873	2	DFFB	1	3800135	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96449	3800135	245450486	50	2196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	209					4.14922e-12	4.44601e-12	1	1	0	T	3807396	G	T	3807396	3	4	22	1	0	0	0	0	1	0	0	0	2028	942	33	2	384	2	C1orf174	1	3807396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7261	3807396	245443225	51	2197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													158	1480					1.04275e-50	1.2925e-50	1	1	0	A	4772030	C	A	4772030	3	1	22	1	0	0	0	0	1	0	0	0	435	797	28	2	106	2	AJAP1	1	4772030	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	964634	4772030	244478591	52	2198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	517					9.52127e-25	1.09014e-24	1	1	0	A	4772744	C	A	4772744	3	1	22	1	0	0	0	0	1	0	0	0	435	912	32	2	820	2	AJAP1	1	4772744	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	714	4772744	244477877	53	2199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	143					4.26978e-12	4.57227e-12	1	1	0	T	5924003	G	T	5924003	3	4	22	1	0	0	0	0	1	0	0	0	10628	1348	47	2	201	2	NPHP4	1	5924003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1151259	5924003	243326618	54	2200											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	53					0	0	1	0	0	A	5926444	G	A	5926444	2	1	22	1	0	0	0	0	0	0	0	1	10628	1277	45	2		2	NPHP4	1	5926444	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2441	5926444	243324177	55	2201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	91					1.10923e-09	1.16946e-09	1	1	0	A	5935119	C	A	5935119	3	1	22	1	0	0	0	0	1	0	0	0	10628	680	24	2	1461	2	NPHP4	1	5935119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8675	5935119	243315502	56	2202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	425					0	0	1	0	0	T	5964847	C	T	5964847	3	4	22	1	0	0	0	0	1	0	0	0	10628	884	31	1	2367	1	NPHP4	1	5964847	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29728	5964847	243285774	57	2203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	385					0	0	1	0	0	T	5965437	C	T	5965437	3	4	22	1	0	0	0	0	1	0	0	0	10628	922	32	2	2474	2	NPHP4	1	5965437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	590	5965437	243285184	58	2204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	117					0	0	1	0	0	A	6046288	G	A	6046288	3	1	22	1	0	0	0	0	1	0	0	0	10628	1087	38	1	4334	1	NPHP4	1	6046288	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80851	6046288	243204333	59	2205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	108					0	0	1	0	0	T	6046333	C	T	6046333	3	4	22	1	0	0	0	0	1	0	0	0	10628	681	24	2	4379	2	NPHP4	1	6046333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45	6046333	243204288	60	2206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378097.1_Silent_p.G239G|KCNAB2_ENST00000378083.3_Silent_p.G287G|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000352527.1_Silent_p.G225G|KCNAB2_ENST00000341524.1_Silent_p.G239G|KCNAB2_ENST00000458166.2_Silent_p.G172G|KCNAB2_ENST00000378092.1_Silent_p.G225G|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000602612.1_Silent_p.G239G	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													32	327					0	0	1	0	0	T	6155597	C	T	6155597	2	4	22	1	0	0	0	0	0	0	0	1	8054	755	27	1		1	KCNAB2	1	6155597	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109264	6155597	243095024	61	2207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	36					0	0	1	0	0	T	6166503	C	T	6166503	3	4	22	1	0	0	0	0	1	0	0	0	3350	632	22	2	63	2	CHD5	1	6166503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10906	6166503	243084118	62	2208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	465					0	0	1	0	0	T	6169927	C	T	6169927	3	4	22	1	0	0	0	0	1	0	0	0	3350	768	27	1	374	1	CHD5	1	6169927	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3424	6169927	243080694	63	2209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	117					0	0	1	0	0	T	6181169	C	T	6181169	2	4	22	1	0	0	0	0	0	0	0	1	3350	871	31	1		1	CHD5	1	6181169	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11242	6181169	243069452	64	2210											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6184720C>A	ENST00000262450.3	-	30	4495	c.4394_splice	c.e30-1	p.A1466_splice	CHD5_ENST00000378021.1_Splice_Site_p.A323_splice	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													5	15					0.014758	0.0148251	1	1	0	A	6184720	C	A	6184720	5	1	22	1	0	0	0	0	0	0	1	0	3350	811	28	2	1516	2	CHD5	1	6184720	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3551	6184720	243065901	65	2211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	357					0	0	1	0	0	T	6190296	C	T	6190296	3	4	22	1	0	0	0	0	1	0	0	0	3350	884	31	1	2589	1	CHD5	1	6190296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5576	6190296	243060325	66	2212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	873					0	0	1	0	0	A	6202222	G	A	6202222	3	1	22	1	0	0	0	0	1	0	0	0	3350	1203	42	2	3570	2	CHD5	1	6202222	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11926	6202222	243048399	67	2213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	243					0	0	1	0	0	T	6211106	C	T	6211106	3	4	22	1	0	0	0	0	1	0	0	0	3350	768	27	1	5024	1	CHD5	1	6211106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8884	6211106	243039515	68	2214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	219					0	0	1	0	0	T	6214959	C	T	6214959	5	4	22	1	0	0	0	0	0	0	1	0	3350	695	24	2	5506	2	CHD5	1	6214959	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3853	6214959	243035662	69	2215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	197					4.44401e-20	4.96976e-20	1	1	0	A	6215750	C	A	6215750	3	1	22	1	0	0	0	0	1	0	0	0	3350	739	26	2	5601	2	CHD5	1	6215750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	791	6215750	243034871	70	2216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	300					0	0	1	0	0	A	6313786	G	A	6313786	3	1	22	1	0	0	0	0	1	0	0	0	6699	1232	43	2	1067	2	GPR153	1	6313786	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98036	6313786	242936835	71	2217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377845.3_Missense_Mutation_p.A340V|ACOT7_ENST00000377855.2_Missense_Mutation_p.A370V	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													20	130					0	0	1	0	0	A	6324691	G	A	6324691	3	1	22	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	2218											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377837.1_Intron|HES2_ENST00000487437.1_Intron|HES2_ENST00000377836.4_Intron|HES2_ENST00000489730.1_Silent_p.V59V	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													15	143					2.31682e-05	2.36778e-05	1	1	0	T	6479365	G	T	6479365	2	4	22	1	0	0	0	0	0	0	0	1	7107	1161	41	2		2	HES2	1	6479365	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154674	6479365	242771256	73	2219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_078930.3	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													38	290					0	0	1	0	0	C	6592123	T	C	6592123	3	2	22	1	0	0	0	0	1	0	0	0	10575	1493	52	3	572	3	NOL9	1	6592123	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	112758	6592123	242658498	74	2220											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000351136.3_Missense_Mutation_p.V528I|TAS1R1_ENST00000328191.4_3'UTR	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													39	361					0	0	1	0	0	A	6639462	G	A	6639462	3	1	22	1	0	0	0	0	1	0	0	0	15619	1145	40	1	2366	1	TAS1R1	1	6639462	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47339	6639462	242611159	75	2221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	439					1.8453e-21	2.07902e-21	1	1	0	T	6692877	G	T	6692877	3	4	22	1	0	0	0	0	1	0	0	0	15905	986	34	2		2	THAP3	1	6692877	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53415	6692877	242557744	76	2222											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	105					2.44723e-14	2.65813e-14	1	1	0	A	6693075	C	A	6693075	3	1	22	1	0	0	0	0	1	0	0	0	15905	696	24	2		2	THAP3	1	6693075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198	6693075	242557546	77	2223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	84					0	0	1	0	0	A	6694606	G	A	6694606	3	1	22	1	0	0	0	0	1	0	0	0	4657	1102	38	1		1	DNAJC11	1	6694606	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1531	6694606	242556015	78	2224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								37	448					3.21399e-22	3.63327e-22	1	1	0	T	7700507	G	T	7700507	3	4	22	1	0	0	0	0	1	0	0	0	2631	991	35	2	584	2	CAMTA1	1	7700507	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1005901	7700507	241550114	79	2225											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								48	391					0	0	1	0	0	A	7724340	G	A	7724340	3	1	22	1	0	0	0	0	1	0	0	0	2631	971	34	2	1767	2	CAMTA1	1	7724340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23833	7724340	241526281	80	2226											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								72	810					0	0	1	0	0	T	7724600	C	T	7724600	3	4	22	1	0	0	0	0	1	0	0	0	2631	759	27	1	2027	1	CAMTA1	1	7724600	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	260	7724600	241526021	81	2227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								33	260					1.62565e-12	1.74646e-12	1	1	0	A	7737765	C	A	7737765	2	1	22	1	0	0	0	0	0	0	0	1	2631	668	24	2		2	CAMTA1	1	7737765	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13165	7737765	241512856	82	2228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								268	1179					0	0	1	0	0	T	7811265	C	T	7811265	3	4	22	1	0	0	0	0	1	0	0	0	2631	565	20	2	4774	2	CAMTA1	1	7811265	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73500	7811265	241439356	83	2229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	259					0	0	1	0	0	A	7863170	G	A	7863170	2	1	22	1	0	0	0	0	0	0	0	1	11778	1306	46	2		2	PER3	1	7863170	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51905	7863170	241387451	84	2230											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	250					0	0	1	0	0	A	8390438	G	A	8390438	2	1	22	1	0	0	0	0	0	0	0	1	14695	1074	38	1		1	SLC45A1	1	8390438	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	527268	8390438	240860183	85	2231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	279					0	0	1	0	0	A	8390791	G	A	8390791	3	1	22	1	0	0	0	0	1	0	0	0	14695	1087	38	1	1252	1	SLC45A1	1	8390791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	353	8390791	240859830	86	2232											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.L1217F|RERE_ENST00000476556.1_Missense_Mutation_p.L663F|RERE_ENST00000377464.1_Missense_Mutation_p.L949F	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													50	533					0	0	1	0	0	A	8418946	G	A	8418946	3	1	22	1	0	0	0	0	1	0	0	0	13283	1000	35	2	1067	2	RERE	1	8418946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28155	8418946	240831675	87	2233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Nonsense_Mutation_p.Q672*|RERE_ENST00000476556.1_Nonsense_Mutation_p.Q118*|RERE_ENST00000377464.1_Nonsense_Mutation_p.Q404*	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													65	252					0	0	1	0	0	A	8421825	G	A	8421825	4	1	22	1	0	0	0	0	0	1	0	0	13283	1328	46	2	2714	2	RERE	1	8421825	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2879	8421825	240828796	88	2234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.P553L|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000377464.1_Missense_Mutation_p.P285L	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													26	417					0	0	1	0	0	A	8424198	G	A	8424198	3	1	22	1	0	0	0	0	1	0	0	0	13283	1116	39	1	3078	1	RERE	1	8424198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2373	8424198	240826423	89	2235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	1210					1.02788e-11	1.09837e-11	1	1	0	A	8716278	C	A	8716278	3	1	22	1	0	0	0	0	1	0	0	0	13283	913	32	2	4709	2	RERE	1	8716278	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	292080	8716278	240534343	90	2236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	8	151					0	0	1	0	0	A	8923343	G	A	8923343	3	1	22	1	0	0	0	0	1	0	0	0	5149	1029	36	2	189	2	ENO1	1	8923343	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	207065	8923343	240327278	91	2237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	64	477					0	0	1	0	0	A	8931976	T	A	8931976	3	1	22	1	0	0	0	0	1	0	0	0	5149	1493	52	5	1189	5	ENO1	1	8931976	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8633	8931976	240318645	92	2238											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9011647G>A	ENST00000319474.2	+	3	449	c.425G>A	c.(424-426)cGt>cAt	p.R142H	CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Intron|CA6_ENST00000377443.2_Intron|CA6_ENST00000377442.2_Intron			P23280	CAH6_HUMAN	carbonic anhydrase VI	0					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													17	127					0	0	1	0	0	A	9011647	G	A	9011647	3	1	22	1	0	0	0	0	1	0	0	0	2539	1160	40	1		1	CA6	1	9011647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79671	9011647	240238974	93	2239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000476083.1_3'UTR|CA6_ENST00000377436.3_Missense_Mutation_p.T258I|CA6_ENST00000377442.2_Missense_Mutation_p.T198I	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													81	459					0	0	1	0	0	T	9030969	C	T	9030969	3	4	22	1	0	0	0	0	1	0	0	0	2539	507	18	2	799	2	CA6	1	9030969	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19322	9030969	240219652	94	2240											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	45					0	0	1	0	0	T	9188913	C	T	9188913	2	4	22	1	0	0	0	0	0	0	0	1	6702	697	25	2		2	GPR157	1	9188913	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157944	9188913	240061708	95	2241											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_004285.3	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													44	169					0	0	1	0	0	G	9305205	A	G	9305205	3	3	22	1	0	0	0	0	1	0	0	0	6977	72	3	3	214	3	H6PD	1	9305205	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	116292	9305205	239945416	96	2242											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_004285.3	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													74	434					8.70598e-44	1.06393e-43	1	1	0	T	9324603	G	T	9324603	3	4	22	1	0	0	0	0	1	0	0	0	6977	971	34	2	2065	2	H6PD	1	9324603	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19398	9324603	239926018	97	2243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_004285.3	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													23	165					0	0	1	0	0	A	9324735	G	A	9324735	3	1	22	1	0	0	0	0	1	0	0	0	6977	1087	38	1	2197	1	H6PD	1	9324735	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132	9324735	239925886	98	2244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_004285.3	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													18	226					0	0	1	0	0	A	9324884	G	A	9324884	3	1	22	1	0	0	0	0	1	0	0	0	6977	1116	39	1	2346	1	H6PD	1	9324884	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149	9324884	239925737	99	2245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	418					0	0	1	0	0	T	9416403	C	T	9416403	2	4	22	1	0	0	0	0	0	0	0	1	15168	535	19	1		1	SPSB1	1	9416403	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91519	9416403	239834218	100	2246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	259					0	0	1	0	0	A	9416645	G	A	9416645	5	1	22	1	0	0	0	0	0	0	1	0	15168	1159	40	1	697	1	SPSB1	1	9416645	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242	9416645	239833976	101	2247											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	375					0	0	1	0	0	A	9661306	G	A	9661306	2	1	22	1	0	0	0	0	0	0	0	1	16186	1306	46	2		2	TMEM201	1	9661306	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	244661	9661306	239589315	102	2248											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	364					0	0	1	0	0	A	9661466	G	A	9661466	3	1	22	1	0	0	0	0	1	0	0	0	16186	1232	43	2	928	2	TMEM201	1	9661466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	160	9661466	239589155	103	2249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	194					0	0	1	0	0	T	9776551	C	T	9776551	2	4	22	1	0	0	0	0	0	0	0	1	11963	668	24	2		2	PIK3CD	1	9776551	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115085	9776551	239474070	104	2250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377346.4_Silent_p.R437R|PIK3CD_ENST00000361110.2_Silent_p.R402R|PIK3CD_ENST00000543390.1_Silent_p.R104R			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													156	706					0	0	1	0	0	T	9780047	C	T	9780047	2	4	22	1	0	0	0	0	0	0	0	1	11963	784	28	2		2	PIK3CD	1	9780047	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3496	9780047	239470574	105	2251											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377346.4_Missense_Mutation_p.A545V|PIK3CD_ENST00000361110.2_Missense_Mutation_p.A569V|PIK3CD_ENST00000543390.1_Missense_Mutation_p.A212V			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													11	80					0	0	1	0	0	T	9780912	C	T	9780912	3	4	22	1	0	0	0	0	1	0	0	0	11963	768	27	1	1676	1	PIK3CD	1	9780912	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	865	9780912	239469709	106	2252											
PIK3CD	5293	broad.mit.edu	37	chr1	9781553	9781553	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgcaggtgctcaagtaCgagtcctacctggactgcga	13	11	1	0	rs151235777	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9781553C>T	ENST00000536656.1	+	15	2143	c.1935C>T	c.(1933-1935)taC>taT	p.Y645Y	PIK3CD_ENST00000377346.4_Silent_p.Y621Y|PIK3CD_ENST00000361110.2_Silent_p.Y645Y|PIK3CD_ENST00000543390.1_Silent_p.Y288Y			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	621					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)		TGCTCAAGTACGAGTCCTACC	0.632													43	166					0	0	1	0	0	T	9781553	C	T	9781553	2	4	22	1	0	0	0	0	0	0	0	1	11963	547	19	1		1	PIK3CD	1	9781553	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	641	9781553	239469068	107	2253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377346.4_Missense_Mutation_p.R641L|PIK3CD_ENST00000361110.2_Missense_Mutation_p.R665L|PIK3CD_ENST00000543390.1_Missense_Mutation_p.R308L			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)	14	200					3.27435e-08	3.41456e-08	1	1	0	T	9781612	G	T	9781612	3	4	22	1	0	0	0	0	1	0	0	0	11963	1087	38	4	1972	4	PIK3CD	1	9781612	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59	9781612	239469009	108	2254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	110					0	0	1	0	0	T	9782362	C	T	9782362	2	4	22	1	0	0	0	0	0	0	0	1	11963	535	19	1		1	PIK3CD	1	9782362	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	750	9782362	239468259	109	2255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	407					0	0	1	0	0	A	9790629	G	A	9790629	2	1	22	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	110	2256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377213.1_Missense_Mutation_p.G174V|LZIC_ENST00000541052.1_Missense_Mutation_p.G195V|LZIC_ENST00000400903.2_Missense_Mutation_p.G174V			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													34	869					4.3181e-19	4.80867e-19	1	1	0	A	9990509	C	A	9990509	3	1	22	1	0	0	0	0	1	0	0	0	9181	855	30	2	55	2	LZIC	1	9990509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199880	9990509	239260112	111	2257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000253251.8_Missense_Mutation_p.A677T|UBE4B_ENST00000343090.6_Missense_Mutation_p.A806T	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													19	203					0	0	1	0	0	A	10205050	G	A	10205050	3	1	22	1	0	0	0	0	1	0	0	0	16944	1203	42	2	2486	2	UBE4B	1	10205050	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214541	10205050	239045571	112	2258											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000253251.8_Missense_Mutation_p.R1126H|UBE4B_ENST00000343090.6_Missense_Mutation_p.R1255H	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													66	521					0	0	1	0	0	A	10239537	G	A	10239537	3	1	22	1	0	0	0	0	1	0	0	0	16944	1087	38	1	3870	1	UBE4B	1	10239537	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34487	10239537	239011084	113	2259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377086.1_Intron|KIF1B_ENST00000377083.1_Silent_p.V857V|KIF1B_ENST00000377081.1_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													53	219					0	0	1	0	0	T	10363814	C	T	10363814	2	4	22	1	0	0	0	0	0	0	0	1	8326	900	32	2		2	KIF1B	1	10363814	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124277	10363814	238886807	114	2260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377086.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.R918C|KIF1B_ENST00000377081.1_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													11	262					0	0	1	0	0	T	10363995	C	T	10363995	3	4	22	1	0	0	0	0	1	0	0	0	8326	536	19	1	2830	1	KIF1B	1	10363995	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	181	10363995	238886626	115	2261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	428					0	0	1	0	0	A	10386320	G	A	10386320	3	1	22	1	0	0	0	0	1	0	0	0	8326	1087	38	1	4272	1	KIF1B	1	10386320	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22325	10386320	238864301	116	2262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000465635.1_3'UTR|KIF1B_ENST00000377081.1_Missense_Mutation_p.A1332V			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													74	318					0	0	1	0	0	T	10412734	C	T	10412734	3	4	22	1	0	0	0	0	1	0	0	0	8326	739	26	2	5484	2	KIF1B	1	10412734	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26414	10412734	238837887	117	2263											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	216					0	0	1	0	0	G	10473299	A	G	10473299	3	3	22	1	0	0	0	0	1	0	0	0	11835	159	6	3	865	3	PGD	1	10473299	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60565	10473299	238777322	118	2264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	55					0	0	1	0	0	T	10689807	C	T	10689807	2	4	22	1	0	0	0	0	0	0	0	1	11790	755	27	1		1	PEX14	1	10689807	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	216508	10689807	238560814	119	2265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	211					0	0	1	0	0	T	10689966	C	T	10689966	2	4	22	1	0	0	0	0	0	0	0	1	11790	755	27	1		1	PEX14	1	10689966	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159	10689966	238560655	120	2266											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001079843.1	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													7	52					0	0	1	0	0	T	10699493	C	T	10699493	3	4	22	1	0	0	0	0	1	0	0	0	2703	893	31	1	497	1	CASZ1	1	10699493	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9527	10699493	238551128	121	2267											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001079843.1	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													44	375					0	0	1	0	0	T	10714519	C	T	10714519	3	4	22	1	0	0	0	0	1	0	0	0	2703	884	31	1	3536	1	CASZ1	1	10714519	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15026	10714519	238536102	122	2268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001079843.1	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													164	575					0	0	1	0	0	T	10720073	C	T	10720073	2	4	22	1	0	0	0	0	0	0	0	1	2703	912	32	2		2	CASZ1	1	10720073	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5554	10720073	238530548	123	2269											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001079843.1	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													128	400					2.70824e-66	3.42657e-66	1	1	0	A	10725412	C	A	10725412	3	1	22	1	0	0	0	0	1	0	0	0	2703	768	27	4	5118	4	CASZ1	1	10725412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5339	10725412	238525209	124	2270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	554					0	0	1	0	0	T	11008344	C	T	11008344	2	4	22	1	0	0	0	0	0	0	0	1	2007	523	19	1		1	C1orf127	1	11008344	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	282932	11008344	238242277	125	2271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	306					0	0	1	0	0	A	11082189	G	A	11082189	2	1	22	1	0	0	0	0	0	0	0	1	15614	1020	36	2		2	TARDBP	1	11082189	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73845	11082189	238168432	126	2272											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	168					0	0	1	0	0	A	11090932	G	A	11090932	2	1	22	1	0	0	0	0	0	0	0	1	9373	1020	36	2		2	MASP2	1	11090932	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8743	11090932	238159689	127	2273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	149					0	0	1	0	0	A	11106656	G	A	11106656	2	1	22	1	0	0	0	0	0	0	0	1	9373	1136	40	1		1	MASP2	1	11106656	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15724	11106656	238143965	128	2274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376936.4_Missense_Mutation_p.L407M|EXOSC10_ENST00000304457.7_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													79	594					9.35349e-44	1.14279e-43	1	1	0	T	11142806	G	T	11142806	3	4	22	1	0	0	0	0	1	0	0	0	5341	991	35	2	1502	2	EXOSC10	1	11142806	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36150	11142806	238107815	129	2275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376936.4_Missense_Mutation_p.P140H|EXOSC10_ENST00000304457.7_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													8	223					0.000673444	0.000681208	1	1	0	T	11151608	G	T	11151608	3	4	22	1	0	0	0	0	1	0	0	0	5341	1000	35	2	2326	2	EXOSC10	1	11151608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8802	11151608	238099013	130	2276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	273					0	0	1	0	0	A	11194521	G	A	11194521	2	1	22	1	0	0	0	0	0	0	0	1	10002	1048	37	1		1	MTOR	1	11194521	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42913	11194521	238056100	131	2277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	664					0	0	1	0	0	C	11199383	T	C	11199383	3	2	22	1	0	0	0	0	1	0	0	0	10002	1725	60	3	2633	3	MTOR	1	11199383	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4862	11199383	238051238	132	2278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	230					5.57489e-27	6.44243e-27	1	1	0	T	11270930	G	T	11270930	3	4	22	1	0	0	0	0	1	0	0	0	10002	933	33	2	4194	2	MTOR	1	11270930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71547	11270930	237979691	133	2279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	113					0	0	1	0	0	A	11317062	G	A	11317062	2	1	22	1	0	0	0	0	0	0	0	1	10002	1140	40	1		1	MTOR	1	11317062	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46132	11317062	237933559	134	2280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	159					0	0	1	0	0	T	11561444	C	T	11561444	3	4	22	1	0	0	0	0	1	0	0	0	12782	855	30	2	397	2	PTCHD2	1	11561444	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244382	11561444	237689177	135	2281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	117					0	0	1	0	0	A	11561540	G	A	11561540	3	1	22	1	0	0	0	0	1	0	0	0	12782	1087	38	1	493	1	PTCHD2	1	11561540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96	11561540	237689081	136	2282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	66					0	0	1	0	0	A	11561811	G	A	11561811	2	1	22	1	0	0	0	0	0	0	0	1	12782	1074	38	1		1	PTCHD2	1	11561811	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	271	11561811	237688810	137	2283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376762.4_Intron|FBXO44_ENST00000376770.1_Silent_p.S136S|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000251547.5_Silent_p.S136S|FBXO44_ENST00000251546.4_Intron			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													42	168					2.66277e-13	2.87267e-13	1	1	0	A	11718605	C	A	11718605	3	1	22	1	0	0	0	0	1	0	0	0	5786	610	22	2	418	2	FBXO44	1	11718605	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	156794	11718605	237532016	138	2284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													139	589					0	0	1	0	0	A	11860309	G	A	11860309	2	1	22	1	0	0	0	0	0	0	0	1	9979	1164	41	2		2	MTHFR	1	11860309	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141704	11860309	237390312	139	2285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	62					0	0	1	0	0	C	11863151	T	C	11863151	3	2	22	1	0	0	0	0	1	0	0	0	9979	1725	60	3	1991	3	MTHFR	1	11863151	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2842	11863151	237387470	140	2286											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001277.1	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													6	115					0	0	1	0	0	T	11896113	C	T	11896113	3	4	22	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	141	2287											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001277.1	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)	19	171					0	0	1	0	0	T	11898394	C	T	11898394	2	4	22	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	142	2288											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001277.1	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)	49	402					0	0	1	0	0	A	11898697	G	A	11898697	3	1	22	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	143	2289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	542					1.95512e-22	2.21276e-22	1	1	0	T	11980383	G	T	11980383	3	4	22	1	0	0	0	0	1	0	0	0	8309	1174	41	2	14	2	KIAA2013	1	11980383	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81686	11980383	237270238	144	2290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000196061.4_Intron|PLOD1_ENST00000485046.1_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													13	71					0	0	1	0	0	A	12004699	G	A	12004699	3	1	22	1	0	0	0	0	1	0	0	0	12149	1160	40	1		1	PLOD1	1	12004699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24316	12004699	237245922	145	2291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	351					0	0	1	0	0	A	12032953	G	A	12032953	3	1	22	1	0	0	0	0	1	0	0	0	12149	1145	40	1	1997	1	PLOD1	1	12032953	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28254	12032953	237217668	146	2292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000497302.1_3'UTR|MFN2_ENST00000444836.1_Missense_Mutation_p.G87D	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													185	832					0	0	1	0	0	A	12052696	G	A	12052696	3	1	22	1	0	0	0	0	1	0	0	0	9574	1203	42	2	266	2	MFN2	1	12052696	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19743	12052696	237197925	147	2293											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417814.2_Missense_Mutation_p.R304Q|TNFRSF8_ENST00000413146.2_5'UTR	NM_001243.3	NP_001234.2	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													9	538					0	0	1	0	0	A	12186098	G	A	12186098	3	1	22	1	0	0	0	0	1	0	0	0	16359	1058	37	1	1286	1	TNFRSF8	1	12186098	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133402	12186098	237064523	148	2294											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	784					6.06247e-24	6.9123e-24	1	1	0	T	12251090	G	T	12251090	3	4	22	1	0	0	0	0	1	0	0	0	16354	962	34	2	265	2	TNFRSF1B	1	12251090	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64992	12251090	236999531	149	2295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	170					0	0	1	0	0	T	12252968	C	T	12252968	2	4	22	1	0	0	0	0	0	0	0	1	16354	718	25	2		2	TNFRSF1B	1	12252968	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1878	12252968	236997653	150	2296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	307					0	0	1	0	0	T	12266843	C	T	12266843	2	4	22	1	0	0	0	0	0	0	0	1	16354	874	31	1		1	TNFRSF1B	1	12266843	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13875	12266843	236983778	151	2297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	213					1.99824e-07	2.07512e-07	1	1	0	A	12309338	C	A	12309338	3	1	22	1	0	0	0	0	1	0	0	0	17252	681	24	2	524	2	VPS13D	1	12309338	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42495	12309338	236941283	152	2298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	639					6.44939e-38	7.75849e-38	1	1	0	A	12368618	C	A	12368618	2	1	22	1	0	0	0	0	0	0	0	1	17252	668	24	2		2	VPS13D	1	12368618	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59280	12368618	236882003	153	2299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	555					0	0	1	0	0	A	12368655	G	A	12368655	3	1	22	1	0	0	0	0	1	0	0	0	17252	1059	37	1	6709	1	VPS13D	1	12368655	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	12368655	236881966	154	2300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	662					0	0	1	0	0	A	12371629	G	A	12371629	3	1	22	1	0	0	0	0	1	0	0	0	17252	943	33	2	6875	2	VPS13D	1	12371629	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2974	12371629	236878992	155	2301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	204					0	0	1	0	0	A	12374263	G	A	12374263	3	1	22	1	0	0	0	0	1	0	0	0	17252	1290	45	2	7141	2	VPS13D	1	12374263	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2634	12374263	236876358	156	2302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	401					0	0	1	0	0	A	12395787	G	A	12395787	2	1	22	1	0	0	0	0	0	0	0	1	17252	1132	40	1		1	VPS13D	1	12395787	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21524	12395787	236854834	157	2303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	272					0	0	1	0	0	A	12416088	G	A	12416088	3	1	22	1	0	0	0	0	1	0	0	0	17252	1058	37	1	9998	1	VPS13D	1	12416088	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20301	12416088	236834533	158	2304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	258					0	0	1	0	0	C	12638749	A	C	12638749	3	2	22	1	0	0	0	0	1	0	0	0	4519	275	10	3	225	3	DHRS3	1	12638749	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	222661	12638749	236611872	159	2305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	541					0	0	1	0	0	A	12726629	G	A	12726629	4	1	22	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	160	2306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	494					0	0	1	0	0	T	12726682	C	T	12726682	3	4	22	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	161	2307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	386					2.5963e-48	3.20365e-48	1	1	0	A	12780892	C	A	12780892	3	1	22	1	0	0	0	0	1	0	0	0	12	506	18	2	236	2	AADACL3	1	12780892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54210	12780892	236469729	162	2308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	966					0	0	1	0	0	A	12819304	G	A	12819304	3	1	22	1	0	0	0	0	1	0	0	0	2020	971	34	2	297	2	C1orf158	1	12819304	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38412	12819304	236431317	163	2309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													184	734					4.58104e-65	5.79144e-65	1	1	0	T	12835753	G	T	12835753	3	4	22	1	0	0	0	0	1	0	0	0	12476	971	34	2	361	2	PRAMEF12	1	12835753	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16449	12835753	236414868	164	2310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	553					0	0	1	0	0	A	12836043	G	A	12836043	2	1	22	1	0	0	0	0	0	0	0	1	12476	962	34	2		2	PRAMEF12	1	12836043	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	290	12836043	236414578	165	2311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	604					0	0	1	0	0	A	12837595	G	A	12837595	2	1	22	1	0	0	0	0	0	0	0	1	12476	962	34	2		2	PRAMEF12	1	12837595	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1552	12837595	236413026	166	2312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	381					5.3912e-06	5.54037e-06	1	1	0	T	12837727	G	T	12837727	3	4	22	1	0	0	0	0	1	0	0	0	12476	991	35	2	1447	2	PRAMEF12	1	12837727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132	12837727	236412894	167	2313											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													131	1932					0	0	1	0	0	A	12854104	G	A	12854104	3	1	22	1	0	0	0	0	1	0	0	0	12474	1059	37	1	334	1	PRAMEF1	1	12854104	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16377	12854104	236396517	168	2314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													141	1384					1.73933e-33	2.06204e-33	1	1	0	T	12854270	G	T	12854270	3	4	22	1	0	0	0	0	1	0	0	0	12474	942	33	2	500	2	PRAMEF1	1	12854270	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166	12854270	236396351	169	2315											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	660					6.86016e-32	8.08805e-32	1	1	0	A	12907993	C	A	12907993	3	1	22	1	0	0	0	0	1	0	0	0	7304	680	24	2	733	2	HNRNPCL1	1	12907993	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53723	12907993	236342628	170	2316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	1467					0	0	1	0	0	A	12954533	G	A	12954533	2	1	22	1	0	0	0	0	0	0	0	1	12475	1078	38	1		1	PRAMEF10	1	12954533	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46540	12954533	236296088	171	2317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000487038.1_Missense_Mutation_p.S115L|PDPN_ENST00000475043.1_Missense_Mutation_p.S115L|PDPN_ENST00000509009.1_Missense_Mutation_p.S152L|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													86	370					0	0	1	0	0	T	13940894	C	T	13940894	3	4	22	1	0	0	0	0	1	0	0	0	11735	893	31	1	716	1	PDPN	1	13940894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	986361	13940894	235309727	172	2318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	90					0	0	1	0	0	C	14075893	A	C	14075893	3	2	22	1	0	0	0	0	1	0	0	0	12510	101	4	3	440	3	PRDM2	1	14075893	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	134999	14075893	235174728	173	2319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000311066.5_Missense_Mutation_p.R311W|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R110W|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.R110W	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													84	318					0	0	1	0	0	T	14105221	C	T	14105221	3	4	22	1	0	0	0	0	1	0	0	0	12510	527	19	1	957	1	PRDM2	1	14105221	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29328	14105221	235145400	174	2320											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000311066.5_Silent_p.N439N|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Silent_p.N238N|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Silent_p.N238N	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													70	219					0	0	1	0	0	T	14105607	C	T	14105607	2	4	22	1	0	0	0	0	0	0	0	1	12510	535	19	1		1	PRDM2	1	14105607	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	386	14105607	235145014	175	2321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000311066.5_Missense_Mutation_p.K1163R|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.K962R|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.K962R	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													21	571					0	0	1	0	0	G	14107778	A	G	14107778	3	3	22	1	0	0	0	0	1	0	0	0	12510	14	1	3	3514	3	PRDM2	1	14107778	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2171	14107778	235142843	176	2322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000311066.5_Missense_Mutation_p.S1604A|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S1403A|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.S1403A	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													36	293					0	0	1	0	0	G	14109100	T	G	14109100	3	3	22	1	0	0	0	0	1	0	0	0	12510	1783	62	3	4836	3	PRDM2	1	14109100	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1322	14109100	235141521	177	2323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400796.3_Missense_Mutation_p.L33M|TMEM51_ENST00000434578.2_Missense_Mutation_p.L33M|TMEM51_ENST00000376008.2_Missense_Mutation_p.L33M|TMEM51_ENST00000376014.3_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													77	778					1.7488e-33	2.07287e-33	1	1	0	A	15541680	C	A	15541680	3	1	22	1	0	0	0	0	1	0	0	0	16237	680	24	2	99	2	TMEM51	1	15541680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1432580	15541680	233708941	178	2324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	48					0	0	1	0	0	T	15753776	C	T	15753776	3	4	22	1	0	0	0	0	1	0	0	0	4975	739	26	2	597	2	EFHD2	1	15753776	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212096	15753776	233496845	179	2325											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	48					0	0	1	0	0	A	15755181	G	A	15755181	2	1	22	1	0	0	0	0	0	0	0	1	4975	1161	41	2		2	EFHD2	1	15755181	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1405	15755181	233495440	180	2326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375890.4_Missense_Mutation_p.L131M|CASP9_ENST00000333868.5_Missense_Mutation_p.L214M|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													10	349					1.08611e-07	1.12939e-07	1	1	0	T	15832565	G	T	15832565	3	4	22	1	0	0	0	0	1	0	0	0	2697	962	34	2	630	2	CASP9	1	15832565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77384	15832565	233418056	181	2327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375849.1_Missense_Mutation_p.A642D|DNAJC16_ENST00000483270.1_3'UTR	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													12	370					7.03913e-09	7.37812e-09	1	1	0	A	15893740	C	A	15893740	3	1	22	1	0	0	0	0	1	0	0	0	4662	797	28	2	1975	2	DNAJC16	1	15893740	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61175	15893740	233356881	182	2328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	668					0	0	1	0	0	T	15986601	C	T	15986601	3	4	22	1	0	0	0	0	1	0	0	0	13750	826	29	2	240	2	RSC1A1	1	15986601	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92861	15986601	233264020	183	2329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	251					0	0	1	0	0	G	16064705	T	G	16064705	3	3	22	1	0	0	0	0	1	0	0	0	14553	1609	56	3	572	3	SLC25A34	1	16064705	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	78104	16064705	233185916	184	2330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000441801.2_Silent_p.G247G|FBLIM1_ENST00000375771.1_Silent_p.G247G|FBLIM1_ENST00000332305.5_Silent_p.G150G|FBLIM1_ENST00000400773.1_Silent_p.G150G	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													51	417					0	0	1	0	0	T	16101142	C	T	16101142	2	4	22	1	0	0	0	0	0	0	0	1	5730	755	27	1		1	FBLIM1	1	16101142	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36437	16101142	233149479	185	2331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	344					0	0	1	0	0	T	16254623	C	T	16254623	3	4	22	1	0	0	0	0	1	0	0	0	15094	884	31	1	1930	1	SPEN	1	16254623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153481	16254623	232995998	186	2332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	393					0	0	1	0	0	T	16255163	C	T	16255163	3	4	22	1	0	0	0	0	1	0	0	0	15094	527	19	1	2470	1	SPEN	1	16255163	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	540	16255163	232995458	187	2333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	401					1.96642e-18	2.182e-18	1	1	0	A	16258456	C	A	16258456	2	1	22	1	0	0	0	0	0	0	0	1	15094	900	32	2		2	SPEN	1	16258456	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3293	16258456	232992165	188	2334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	422					0	0	1	0	0	A	16264404	G	A	16264404	3	1	22	1	0	0	0	0	1	0	0	0	15094	1116	39	1	10657	1	SPEN	1	16264404	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5948	16264404	232986217	189	2335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000331433.4_Silent_p.I114I|CLCNKA_ENST00000439316.2_Intron|CLCNKA_ENST00000464764.1_3'UTR|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													19	281					1.2644e-06	1.30616e-06	1	1	0	A	16351370	C	A	16351370	2	1	22	1	0	0	0	0	0	0	0	1	3492	816	29	2		2	CLCNKA	1	16351370	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86966	16351370	232899251	190	2336											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000331433.4_Missense_Mutation_p.H230P|CLCNKA_ENST00000439316.2_Missense_Mutation_p.H187P|CLCNKA_ENST00000464764.1_3'UTR|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													73	787					0	0	1	0	0	C	16353838	A	C	16353838	3	2	22	1	0	0	0	0	1	0	0	0	3492	159	6	3	715	3	CLCNKA	1	16353838	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2468	16353838	232896783	191	2337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16456084G>A	ENST00000358432.5	-	16	2824	c.2669_splice	c.e16-1	p.R890_splice		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													14	115					0	0	1	0	0	A	16456084	G	A	16456084	5	1	22	1	0	0	0	0	0	0	1	0	5195	1101	38	1	268	1	EPHA2	1	16456084	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102246	16456084	232794537	192	2338											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	134					0	0	1	0	0	A	16460967	G	A	16460967	3	1	22	1	0	0	0	0	1	0	0	0	5195	1116	39	1	1292	1	EPHA2	1	16460967	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4883	16460967	232789654	193	2339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	128					0	0	1	0	0	G	16461042	A	G	16461042	2	3	22	1	0	0	0	0	0	0	0	1	5195	69	3	3		3	EPHA2	1	16461042	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75	16461042	232789579	194	2340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	129					0	0	1	0	0	A	16464503	G	A	16464503	3	1	22	1	0	0	0	0	1	0	0	0	5195	1059	37	1	1825	1	EPHA2	1	16464503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3461	16464503	232786118	195	2341											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	137					4.02929e-09	4.23443e-09	1	1	0	T	16464553	G	T	16464553	4	4	22	1	0	0	0	0	0	1	0	0	5195	963	34	2	1875	2	EPHA2	1	16464553	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50	16464553	232786068	196	2342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	325					2.09667e-21	2.36065e-21	1	1	0	T	16475444	G	T	16475444	3	4	22	1	0	0	0	0	1	0	0	0	5195	1020	36	2	2738	2	EPHA2	1	16475444	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10891	16475444	232775177	197	2343											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|ARHGEF19_ENST00000421561.1_Intron	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													18	67					2.35188e-11	2.50879e-11	1	1	0	T	16531318	G	T	16531318	3	4	22	1	0	0	0	0	1	0	0	0	899	962	34	2	585	2	ARHGEF19	1	16531318	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55874	16531318	232719303	198	2344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|ARHGEF19_ENST00000421561.1_Missense_Mutation_p.R448H	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													12	37					0	0	1	0	0	T	16532534	C	T	16532534	3	4	22	1	0	0	0	0	1	0	0	0	899	768	27	1	1101	1	ARHGEF19	1	16532534	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1216	16532534	232718087	199	2345											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ARHGEF19_ENST00000421561.1_Missense_Mutation_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													86	303					0	0	1	0	0	T	16534248	C	T	16534248	3	4	22	1	0	0	0	0	1	0	0	0	899	884	31	1	1741	1	ARHGEF19	1	16534248	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1714	16534248	232716373	200	2346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16579592G>A	ENST00000375592.3	-	8	1136	c.921_splice	c.e8+1	p.A307_splice		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													11	88					0	0	1	0	0	A	16579592	G	A	16579592	5	1	22	1	0	0	0	0	0	0	1	0	5784	985	34	2	1245	2	FBXO42	1	16579592	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45344	16579592	232671029	201	2347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	206					0	0	1	0	0	T	16641844	C	T	16641844	3	4	22	1	0	0	0	0	1	0	0	0	5784	681	24	2	2119	2	FBXO42	1	16641844	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62252	16641844	232608777	202	2348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.L226F	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													32	213					0	0	1	0	0	A	16731528	G	A	16731528	3	1	22	1	0	0	0	0	1	0	0	0	15063	971	34	2	688	2	SPATA21	1	16731528	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89684	16731528	232519093	203	2349											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Silent_p.S205S	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													34	247					0	0	1	0	0	A	16731589	G	A	16731589	2	1	22	1	0	0	0	0	0	0	0	1	15063	962	34	2		2	SPATA21	1	16731589	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61	16731589	232519032	204	2350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443980.2_Silent_p.A33A|NECAP2_ENST00000457722.2_Silent_p.A7A|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													10	74					0	0	1	0	0	A	16770133	G	A	16770133	2	1	22	1	0	0	0	0	0	0	0	1	10355	1103	39	1		1	NECAP2	1	16770133	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38544	16770133	232480488	205	2351											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443980.2_Missense_Mutation_p.A163T|NECAP2_ENST00000457722.2_Missense_Mutation_p.A137T|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													18	55					0	0	1	0	0	A	16775694	G	A	16775694	3	1	22	1	0	0	0	0	1	0	0	0	10355	1087	38	1	505	1	NECAP2	1	16775694	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5561	16775694	232474927	206	2352											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	5983					0	0	1	0	0	G	16892237	A	G	16892237	2	3	22	1	0	0	0	0	0	0	0	1	10240	41	2	3		3	NBPF1	1	16892237	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	116543	16892237	232358384	207	2353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	2005					0	0	1	0	0	G	16902779	A	G	16902779	3	3	22	1	0	0	0	0	1	0	0	0	10240	275	10	3	1366	3	NBPF1	1	16902779	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10542	16902779	232347842	208	2354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	40					0	0	1	0	0	A	17256517	G	A	17256517	2	1	22	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	209	2355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	226					0	0	1	0	0	A	17281832	G	A	17281832	3	1	22	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	210	2356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	52					0.000602214	0.000609647	1	1	0	T	17281989	G	T	17281989	2	4	22	1	0	0	0	0	0	0	0	1	3916	1190	42	2		2	CROCC	1	17281989	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157	17281989	231968632	211	2357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	44					0	0	1	0	0	T	17296826	C	T	17296826	4	4	22	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	212	2358											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	157					0	0	1	0	0	T	17301766	C	T	17301766	3	4	22	1	0	0	0	0	1	0	0	0	9564	884	31	1	113	1	MFAP2	1	17301766	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4940	17301766	231948855	213	2359											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000444885.2_Silent_p.G229G|PADI2_ENST00000375481.1_Silent_p.G345G	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													50	351					0	0	1	0	0	A	17410236	G	A	17410236	2	1	22	1	0	0	0	0	0	0	0	1	11425	1074	38	1		1	PADI2	1	17410236	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108470	17410236	231840385	214	2360											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Silent_p.S133S|PADI1_ENST00000536552.1_Silent_p.S89S|PADI1_ENST00000537499.1_Silent_p.S175S	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													35	251					0	0	1	0	0	T	17570600	C	T	17570600	2	4	22	1	0	0	0	0	0	0	0	1	11424	610	22	2		2	PADI1	1	17570600	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160364	17570600	231680021	215	2361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	181					1.58986e-06	1.64048e-06	1	1	0	T	17597649	G	T	17597649	3	4	22	1	0	0	0	0	1	0	0	0	11426	933	33	2	1057	2	PADI3	1	17597649	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27049	17597649	231652972	216	2362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	338					0	0	1	0	0	A	17664602	G	A	17664602	3	1	22	1	0	0	0	0	1	0	0	0	11427	1059	37	1	496	1	PADI4	1	17664602	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66953	17664602	231586019	217	2363											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	196					0	0	1	0	0	T	17674450	C	T	17674450	2	4	22	1	0	0	0	0	0	0	0	1	11427	874	31	1		1	PADI4	1	17674450	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9848	17674450	231576171	218	2364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	62					0	0	1	0	0	T	17722154	C	T	17722154	1	4	22	0	1	0	0	0	0	0	0	0	11428	913	32	2		2	PADI6	1	17722154	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47704	17722154	231528467	219	2365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	526					6.26901e-30	7.33784e-30	1	1	0	A	17748709	C	A	17748709	3	1	22	1	0	0	0	0	1	0	0	0	13226	797	28	2	866	2	RCC2	1	17748709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26555	17748709	231501912	220	2366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	258					0	0	1	0	0	G	17749218	T	G	17749218	3	3	22	1	0	0	0	0	1	0	0	0	13226	1696	59	3	966	3	RCC2	1	17749218	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	509	17749218	231501403	221	2367											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434513.1_Missense_Mutation_p.P301T|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P79T|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P79T|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P262T|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P262T|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.P59T	NM_018125.3	NP_060595.3	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													11	104					2.80697e-09	2.95087e-09	1	1	0	A	17945899	C	A	17945899	3	1	22	1	0	0	0	0	1	0	0	0	892	623	22	2	935	2	ARHGEF10L	1	17945899	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	196681	17945899	231304722	222	2368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Silent_p.L875L|ARHGEF10L_ENST00000375408.3_Silent_p.L945L|ARHGEF10L_ENST00000375415.1_Silent_p.L1133L|ARHGEF10L_ENST00000452522.1_Silent_p.L1133L	NM_018125.3	NP_060595.3	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													30	82					0	0	1	0	0	T	18023551	C	T	18023551	2	4	22	1	0	0	0	0	0	0	0	1	892	900	32	2		2	ARHGEF10L	1	18023551	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77652	18023551	231227070	223	2369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	598					0	0	1	0	0	A	18149669	G	A	18149669	3	1	22	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	224	2370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	804					0	0	1	0	0	T	18691979	C	T	18691979	3	4	22	1	0	0	0	0	1	0	0	0	7643	536	19	1	825	1	IGSF21	1	18691979	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	542310	18691979	230558642	225	2371											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													135	527					0	0	1	0	0	A	18692065	G	A	18692065	3	1	22	1	0	0	0	0	1	0	0	0	7643	1116	39	1	911	1	IGSF21	1	18692065	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86	18692065	230558556	226	2372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	429					0	0	1	0	0	A	18703915	G	A	18703915	2	1	22	1	0	0	0	0	0	0	0	1	7643	991	35	2		2	IGSF21	1	18703915	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11850	18703915	230546706	227	2373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	148					0	0	1	0	0	A	18808505	G	A	18808505	3	1	22	1	0	0	0	0	1	0	0	0	8403	1059	37	1	1032	1	KLHDC7A	1	18808505	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104590	18808505	230442116	228	2374											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	349					0.000157383	0.000159814	1	1	0	T	18809562	G	T	18809562	3	4	22	1	0	0	0	0	1	0	0	0	8403	971	34	2	2089	2	KLHDC7A	1	18809562	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1057	18809562	230441059	229	2375											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								15	109					0	0	1	0	0	T	19018338	C	T	19018338	3	4	22	1	0	0	0	0	1	0	0	0	11531	739	26	2	695	2	PAX7	1	19018338	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208776	19018338	230232283	230	2376											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	148					0	0	1	0	0	T	19166262	C	T	19166262	3	4	22	1	0	0	0	0	1	0	0	0	15620	797	28	2	172	2	TAS1R2	1	19166262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147924	19166262	230084359	231	2377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	251					0	0	1	0	0	A	19175848	G	A	19175848	3	1	22	1	0	0	0	0	1	0	0	0	15620	1261	44	2	1077	2	TAS1R2	1	19175848	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9586	19175848	230074773	232	2378											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	173					0	0	1	0	0	T	19181132	C	T	19181132	3	4	22	1	0	0	0	0	1	0	0	0	15620	884	31	1	1703	1	TAS1R2	1	19181132	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5284	19181132	230069489	233	2379											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000290597.5_Silent_p.S208S|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Silent_p.S148S|ALDH4A1_ENST00000538839.1_Silent_p.S208S|ALDH4A1_ENST00000454547.1_5'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													29	401					0	0	1	0	0	T	19209672	C	T	19209672	2	4	22	1	0	0	0	0	0	0	0	1	498	755	27	1		1	ALDH4A1	1	19209672	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28540	19209672	230040949	234	2380											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000290597.5_Missense_Mutation_p.G199S|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G139S|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G199S|ALDH4A1_ENST00000454547.1_5'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													58	213					0	0	1	0	0	T	19209781	C	T	19209781	3	4	22	1	0	0	0	0	1	0	0	0	498	623	22	2	1136	2	ALDH4A1	1	19209781	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109	19209781	230040840	235	2381											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000290597.5_Missense_Mutation_p.D133Y|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.D73Y|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.D133Y|ALDH4A1_ENST00000454547.1_5'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													11	56					0.000673444	0.000681208	1	1	0	A	19212023	C	A	19212023	3	1	22	1	0	0	0	0	1	0	0	0	498	913	32	2	1338	2	ALDH4A1	1	19212023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2242	19212023	230038598	236	2382											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375254.3_Silent_p.A4308A|UBR4_ENST00000375217.2_Silent_p.A4301A|UBR4_ENST00000375226.2_Silent_p.A4284A|UBR4_ENST00000543981.1_5'UTR|UBR4_ENST00000375224.1_Silent_p.A15A			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													9	507					0.000442599	0.000448314	1	1	0	T	19428113	G	T	19428113	2	4	22	1	0	0	0	0	0	0	0	1	16965	987	35	2		2	UBR4	1	19428113	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	216090	19428113	229822508	237	2383											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375254.3_Missense_Mutation_p.S4240G|UBR4_ENST00000375217.2_Missense_Mutation_p.S4233G|UBR4_ENST00000375226.2_Missense_Mutation_p.S4216G|UBR4_ENST00000375224.1_5'UTR			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													14	103					0	0	1	0	0	C	19431088	T	C	19431088	3	2	22	1	0	0	0	0	1	0	0	0	16965	1609	56	3	2917	3	UBR4	1	19431088	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2975	19431088	229819533	238	2384											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375254.3_Missense_Mutation_p.S3344I|UBR4_ENST00000375217.2_Missense_Mutation_p.S3337I|UBR4_ENST00000375226.2_Missense_Mutation_p.S3320I			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													33	304					1.80694e-10	1.9163e-10	1	1	0	A	19447793	C	A	19447793	3	1	22	1	0	0	0	0	1	0	0	0	16965	565	20	2	5676	2	UBR4	1	19447793	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16705	19447793	229802828	239	2385											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375254.3_Missense_Mutation_p.R2712K|UBR4_ENST00000375217.2_Missense_Mutation_p.R2740K|UBR4_ENST00000375226.2_Missense_Mutation_p.R2723K			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													60	506					0	0	1	0	0	T	19470518	C	T	19470518	3	4	22	1	0	0	0	0	1	0	0	0	16965	913	32	2	7624	2	UBR4	1	19470518	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22725	19470518	229780103	240	2386											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375254.3_Missense_Mutation_p.G1011E|UBR4_ENST00000375217.2_Missense_Mutation_p.G1011E|UBR4_ENST00000375226.2_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													8	186					0	0	1	0	0	T	19500066	C	T	19500066	3	4	22	1	0	0	0	0	1	0	0	0	16965	855	30	2	12855	2	UBR4	1	19500066	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29548	19500066	229750555	241	2387											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375254.3_Missense_Mutation_p.P264T|UBR4_ENST00000375217.2_Missense_Mutation_p.P264T|UBR4_ENST00000375226.2_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													30	668					5.52252e-06	5.67046e-06	1	1	0	T	19524267	G	T	19524267	3	4	22	1	0	0	0	0	1	0	0	0	16965	1203	42	2	15161	2	UBR4	1	19524267	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24201	19524267	229726354	242	2388											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375254.3_Missense_Mutation_p.A158T|UBR4_ENST00000375217.2_Missense_Mutation_p.A158T|UBR4_ENST00000375226.2_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													45	487					0	0	1	0	0	T	19525329	C	T	19525329	3	4	22	1	0	0	0	0	1	0	0	0	16965	768	27	1	15491	1	UBR4	1	19525329	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1062	19525329	229725292	243	2389											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	256					0	0	1	0	0	A	19584466	G	A	19584466	3	1	22	1	0	0	0	0	1	0	0	0	9901	1087	38	1	503	1	MRTO4	1	19584466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59137	19584466	229666155	244	2390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	201					0	0	1	0	0	A	19585280	G	A	19585280	3	1	22	1	0	0	0	0	1	0	0	0	9901	1087	38	1	706	1	MRTO4	1	19585280	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	814	19585280	229665341	245	2391											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	55					0	0	1	0	0	T	19600445	C	T	19600445	1	4	22	0	1	0	0	0	0	0	0	0	474	893	31	1		1	AKR7L	1	19600445	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15165	19600445	229650176	246	2392											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	259					0	0	1	0	0	A	19609268	G	A	19609268	3	1	22	1	0	0	0	0	1	0	0	0	473	1203	42	2	46	2	AKR7A3	1	19609268	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8823	19609268	229641353	247	2393											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	523					1.64915e-30	1.93527e-30	1	1	0	A	19633502	C	A	19633502	3	1	22	1	0	0	0	0	1	0	0	0	472	681	24	2	309	2	AKR7A2	1	19633502	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24234	19633502	229617119	248	2394											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	192					0	0	1	0	0	A	19992447	G	A	19992447	2	1	22	1	0	0	0	0	0	0	0	1	7495	1074	38	1		1	HTR6	1	19992447	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	358945	19992447	229258174	249	2395											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375127.1_Intron|TMCO4_ENST00000489814.1_5'UTR|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													100	354					0	0	1	0	0	A	20009753	G	A	20009753	3	1	22	1	0	0	0	0	1	0	0	0	16058	1261	44	2	223	2	TMCO4	1	20009753	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17306	20009753	229240868	250	2396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375122.2_Missense_Mutation_p.P357T|TMCO4_ENST00000489814.1_5'UTR	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													70	323					1.42676e-28	1.66098e-28	1	1	0	T	20063940	G	T	20063940	3	4	22	1	0	0	0	0	1	0	0	0	16058	1261	44	2	731	2	TMCO4	1	20063940	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54187	20063940	229186681	251	2397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													152	522					3.7336e-74	4.75615e-74	1	1	0	T	20216981	G	T	20216981	3	4	22	1	0	0	0	0	1	0	0	0	11360	942	33	2	331	2	OTUD3	1	20216981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153041	20216981	229033640	252	2398											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	164					3.51602e-12	3.76992e-12	1	1	0	T	20248849	G	T	20248849	2	4	22	1	0	0	0	0	0	0	0	1	12046	958	34	2		2	PLA2G2E	1	20248849	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31868	20248849	229001772	253	2399											
PLA2G2D	26279	broad.mit.edu	37	chr1	20442831	20442831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaaaggagttaccagtcCgtggcatctttgggttggcc	14	8	1	1	rs150798636	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20442831C>T	ENST00000375105.3	-	2	238	c.180G>A	c.(178-180)acG>acA	p.T60T		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	60					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		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;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTTACCAGTCCGTGGCATCTT	0.522										Multiple Myeloma(11;0.12)			32	270					0	0	1	0	0	T	20442831	C	T	20442831	2	4	22	1	0	0	0	0	0	0	0	1	12045	639	23	1		1	PLA2G2D	1	20442831	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193982	20442831	228807790	254	2400											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	288					3.80469e-20	4.25708e-20	1	1	0	T	20517570	G	T	20517570	3	4	22	1	0	0	0	0	1	0	0	0	16972	1165	41	2	518	2	UBXN10	1	20517570	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74739	20517570	228733051	255	2401											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415136.2_Intron|DDOST_ENST00000602624.2_Nonsense_Mutation_p.E74*|DDOST_ENST00000477229.1_5'UTR	NM_005216.4	NP_005207.2	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													16	187					0.000566183	0.000573471	1	1	0	A	20987419	C	A	20987419	4	1	22	1	0	0	0	0	0	1	0	0	4358	864	30	2	1139	2	DDOST	1	20987419	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	469849	20987419	228263202	256	2402											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400463.3_Missense_Mutation_p.P487L|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Missense_Mutation_p.P387L			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													14	406					0	0	1	0	0	A	21014359	G	A	21014359	3	1	22	1	0	0	0	0	1	0	0	0	8321	1116	39	1	1661	1	KIF17	1	21014359	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26940	21014359	228236262	257	2403											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400463.3_Missense_Mutation_p.R294Q|KIF17_ENST00000375044.1_Missense_Mutation_p.R194Q			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													48	412					0	0	1	0	0	T	21031182	C	T	21031182	3	4	22	1	0	0	0	0	1	0	0	0	8321	652	23	1	2252	1	KIF17	1	21031182	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16823	21031182	228219439	258	2404											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400463.3_Missense_Mutation_p.P115L|KIF17_ENST00000375044.1_Missense_Mutation_p.P15L			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													50	401					0	0	1	0	0	A	21042020	G	A	21042020	3	1	22	1	0	0	0	0	1	0	0	0	8321	1232	43	2	2801	2	KIF17	1	21042020	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10838	21042020	228208601	259	2405											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400422.1_Missense_Mutation_p.S1567F|EIF4G3_ENST00000537738.1_Missense_Mutation_p.S1057F|EIF4G3_ENST00000374935.3_Missense_Mutation_p.S1287F|EIF4G3_ENST00000536266.1_Missense_Mutation_p.S1171F|EIF4G3_ENST00000264211.8_Missense_Mutation_p.S1567F|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S1573F	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													196	780					0	0	1	0	0	A	21133870	G	A	21133870	3	1	22	1	0	0	0	0	1	0	0	0	5066	942	33	2	61	2	EIF4G3	1	21133870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91850	21133870	228116751	260	2406											
EIF4G3	8672	broad.mit.edu	37	chr1	21268212	21268212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtgtgaggaggagaagCtggaggagttggaggagttg	22	1	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21268212C>T	ENST00000602326.1	-	12	1868	c.1285G>A	c.(1285-1287)Gct>Act	p.A429T	EIF4G3_ENST00000356916.3_Missense_Mutation_p.A434T|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A423T|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A27T|EIF4G3_ENST00000264211.8_Missense_Mutation_p.A423T|EIF4G3_ENST00000374927.4_Missense_Mutation_p.A423T|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A429T	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	423					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)		ggaggagaagctggaggagtt	0.527													59	413					0	0	1	0	0	T	21268212	C	T	21268212	3	4	22	1	0	0	0	0	1	0	0	0	5066	797	28	2	3586	2	EIF4G3	1	21268212	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134342	21268212	227982409	261	2407											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356916.3_Missense_Mutation_p.N356D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.N345D|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000264211.8_Missense_Mutation_p.N345D|EIF4G3_ENST00000374927.4_Missense_Mutation_p.N345D|EIF4G3_ENST00000374937.3_Missense_Mutation_p.N351D	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													95	812					0	0	1	0	0	C	21268446	T	C	21268446	3	2	22	1	0	0	0	0	1	0	0	0	5066	1754	61	3	3820	3	EIF4G3	1	21268446	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	234	21268446	227982175	262	2408											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356916.3_Missense_Mutation_p.S284F|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S273F|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000264211.8_Missense_Mutation_p.S273F|EIF4G3_ENST00000374927.4_Missense_Mutation_p.S273F|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S279F	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													50	491					0	0	1	0	0	A	21268661	G	A	21268661	3	1	22	1	0	0	0	0	1	0	0	0	5066	942	33	2	4035	2	EIF4G3	1	21268661	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215	21268661	227981960	263	2409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356916.3_Missense_Mutation_p.L65M|EIF4G3_ENST00000400422.1_Missense_Mutation_p.L54M|EIF4G3_ENST00000374935.3_Missense_Mutation_p.L54M|EIF4G3_ENST00000264211.8_Missense_Mutation_p.L54M|EIF4G3_ENST00000374927.4_Missense_Mutation_p.L54M|EIF4G3_ENST00000374937.3_Missense_Mutation_p.L61M	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													14	356					7.93312e-07	8.20014e-07	1	1	0	T	21307591	G	T	21307591	3	4	22	1	0	0	0	0	1	0	0	0	5066	933	33	2	4713	2	EIF4G3	1	21307591	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38930	21307591	227943030	264	2410											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357071.4_Missense_Mutation_p.G594S|ECE1_ENST00000436918.2_Missense_Mutation_p.G606S|ECE1_ENST00000264205.6_Missense_Mutation_p.G603S|ECE1_ENST00000374893.6_Missense_Mutation_p.G606S	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													20	286					0	0	1	0	0	T	21553685	C	T	21553685	3	4	22	1	0	0	0	0	1	0	0	0	4915	623	22	2	512	2	ECE1	1	21553685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	246094	21553685	227696936	265	2411											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357071.4_Missense_Mutation_p.A217T|ECE1_ENST00000436918.2_Missense_Mutation_p.A229T|ECE1_ENST00000264205.6_Missense_Mutation_p.A226T|ECE1_ENST00000374893.6_Missense_Mutation_p.A229T	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													27	268					0	0	1	0	0	T	21585263	C	T	21585263	3	4	22	1	0	0	0	0	1	0	0	0	4915	768	27	1	1683	1	ECE1	1	21585263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31578	21585263	227665358	266	2412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000454000.2_Nonsense_Mutation_p.R41*|NBPF3_ENST00000342104.5_Nonsense_Mutation_p.R41*|NBPF3_ENST00000318220.6_5'UTR|NBPF3_ENST00000478653.2_3'UTR	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													13	197					0	0	1	0	0	T	21771700	C	T	21771700	4	4	22	1	0	0	0	0	0	1	0	0	10245	760	27	1	123	1	NBPF3	1	21771700	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186437	21771700	227478921	267	2413											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000454000.2_Silent_p.E66E|NBPF3_ENST00000318249.5_Silent_p.E136E|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													39	385					0	0	1	0	0	A	21797189	G	A	21797189	2	1	22	1	0	0	0	0	0	0	0	1	10245	933	33	2		2	NBPF3	1	21797189	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25489	21797189	227453432	268	2414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374832.1_Missense_Mutation_p.A132T|ALPL_ENST00000540617.1_Missense_Mutation_p.A77T|ALPL_ENST00000539907.1_Missense_Mutation_p.A55T|ALPL_ENST00000425315.2_Missense_Mutation_p.A132T|ALPL_ENST00000468526.1_3'UTR	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													42	361					0	0	1	0	0	A	21889699	G	A	21889699	3	1	22	1	0	0	0	0	1	0	0	0	543	1087	38	1	408	1	ALPL	1	21889699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92510	21889699	227360922	269	2415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374832.1_Missense_Mutation_p.D203G|ALPL_ENST00000540617.1_Missense_Mutation_p.D148G|ALPL_ENST00000539907.1_Missense_Mutation_p.D126G|ALPL_ENST00000425315.2_Missense_Mutation_p.D203G|ALPL_ENST00000468526.1_3'UTR	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													9	288					0	0	1	0	0	G	21890669	A	G	21890669	3	3	22	1	0	0	0	0	1	0	0	0	543	275	10	3	626	3	ALPL	1	21890669	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	970	21890669	227359952	270	2416											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374763.2_Silent_p.S610S|RAP1GAP_ENST00000374761.2_Silent_p.S556S|RAP1GAP_ENST00000374765.4_Silent_p.S525S|RAP1GAP_ENST00000290101.4_Silent_p.S589S	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													32	169					0	0	1	0	0	A	21928254	G	A	21928254	2	1	22	1	0	0	0	0	0	0	0	1	13089	1078	38	1		1	RAP1GAP	1	21928254	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37585	21928254	227322367	271	2417											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21936611A>G	ENST00000542643.2	-	15	1302		c.e15+1		RAP1GAP_ENST00000374763.2_Splice_Site|RAP1GAP_ENST00000374761.2_Splice_Site|RAP1GAP_ENST00000374765.4_Splice_Site|RAP1GAP_ENST00000290101.4_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													29	124					0	0	1	0	0	G	21936611	A	G	21936611	5	3	22	1	0	0	0	0	0	0	1	0	13089	173	6	3	1116	3	RAP1GAP	1	21936611	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8357	21936611	227314010	272	2418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000529637.1_Silent_p.S254S|USP48_ENST00000421625.2_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													8	432					0.00307968	0.00310409	1	1	0	A	22078012	C	A	22078012	2	1	22	1	0	0	0	0	0	0	0	1	17139	639	23	4		4	USP48	1	22078012	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141401	22078012	227172609	273	2419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	113					0	0	1	0	0	A	22140902	G	A	22140902	3	1	22	1	0	0	0	0	1	0	0	0	8745	1175	41	2	103	2	LDLRAD2	1	22140902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62890	22140902	227109719	274	2420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	183					0	0	1	0	0	A	22140961	G	A	22140961	2	1	22	1	0	0	0	0	0	0	0	1	8745	1074	38	1		1	LDLRAD2	1	22140961	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59	22140961	227109660	275	2421											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	141					3.07112e-06	3.16074e-06	1	1	0	T	22162127	G	T	22162127	2	4	22	1	0	0	0	0	0	0	0	1	7474	1164	41	2		2	HSPG2	1	22162127	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21166	22162127	227088494	276	2422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	116					2.47316e-13	2.66891e-13	1	1	0	A	22222460	C	A	22222460	5	1	22	1	0	0	0	0	0	0	1	0	7474	927	32	2	13356	2	HSPG2	1	22222460	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60333	22222460	227028161	277	2423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400259.1_Silent_p.P182P|CDC42_ENST00000421089.2_Silent_p.P224P	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													30	308					0	0	1	0	0	A	22417980	G	A	22417980	2	1	22	1	0	0	0	0	0	0	0	1	3093	1045	37	1		1	CDC42	1	22417980	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	195520	22417980	226832641	278	2424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	311					0	0	1	0	0	A	22447815	G	A	22447815	2	1	22	1	0	0	0	0	0	0	0	1	17450	1048	37	1		1	WNT4	1	22447815	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29835	22447815	226802806	279	2425											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375647.4_Missense_Mutation_p.P450S|ZBTB40_ENST00000374651.4_Missense_Mutation_p.P338S	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													28	240					0	0	1	0	0	T	22832722	C	T	22832722	3	4	22	1	0	0	0	0	1	0	0	0	17601	739	26	2	1366	2	ZBTB40	1	22832722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	384907	22832722	226417899	280	2426											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375647.4_Missense_Mutation_p.S991F|ZBTB40_ENST00000374651.4_Missense_Mutation_p.S879F	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													35	385					0	0	1	0	0	T	22846692	C	T	22846692	3	4	22	1	0	0	0	0	1	0	0	0	17601	855	30	2	3022	2	ZBTB40	1	22846692	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13970	22846692	226403929	281	2427											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538803.1_Missense_Mutation_p.R179H|EPHA8_ENST00000374644.4_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													65	268					0	0	1	0	0	A	22903086	G	A	22903086	3	1	22	1	0	0	0	0	1	0	0	0	5201	1087	38	1	546	1	EPHA8	1	22903086	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56394	22903086	226347535	282	2428											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538803.1_Missense_Mutation_p.T219A|EPHA8_ENST00000374644.4_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													20	209					0	0	1	0	0	G	22903205	A	G	22903205	3	3	22	1	0	0	0	0	1	0	0	0	5201	275	10	3	665	3	EPHA8	1	22903205	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	119	22903205	226347416	283	2429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538803.1_Missense_Mutation_p.S297N|EPHA8_ENST00000374644.4_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													88	243					0	0	1	0	0	A	22913039	G	A	22913039	3	1	22	1	0	0	0	0	1	0	0	0	5201	971	34	2	904	2	EPHA8	1	22913039	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9834	22913039	226337582	284	2430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	455					0	0	1	0	0	A	22924291	G	A	22924291	3	1	22	1	0	0	0	0	1	0	0	0	5201	1203	42	2	2268	2	EPHA8	1	22924291	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11252	22924291	226326330	285	2431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	317					0	0	1	0	0	T	22927925	C	T	22927925	2	4	22	1	0	0	0	0	0	0	0	1	5201	755	27	1		1	EPHA8	1	22927925	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3634	22927925	226322696	286	2432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	83					0	0	1	0	0	T	22964203	A	T	22964203	4	4	22	1	0	0	0	0	0	1	0	0	1967	247	9	5	96	5	C1QA	1	22964203	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36278	22964203	226286418	287	2433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	288					0	0	1	0	0	T	22973781	C	T	22973781	2	4	22	1	0	0	0	0	0	0	0	1	1970	639	23	1		1	C1QC	1	22973781	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9578	22973781	226276840	288	2434											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	301					0	0	1	0	0	T	22973816	C	T	22973816	3	4	22	1	0	0	0	0	1	0	0	0	1970	681	24	2	284	2	C1QC	1	22973816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	22973816	226276805	289	2435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	420					0	0	1	0	0	T	22974234	C	T	22974234	2	4	22	1	0	0	0	0	0	0	0	1	1970	784	28	2		2	C1QC	1	22974234	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	418	22974234	226276387	290	2436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374627.1_Silent_p.S344S|EPHB2_ENST00000374632.3_Silent_p.S350S|EPHB2_ENST00000544305.1_Silent_p.S350S|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374630.3_Silent_p.S350S	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													66	699					0	0	1	0	0	T	23191452	C	T	23191452	2	4	22	1	0	0	0	0	0	0	0	1	5203	639	23	1		1	EPHB2	1	23191452	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217218	23191452	226059169	291	2437											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374627.1_Missense_Mutation_p.N561S|EPHB2_ENST00000374632.3_Missense_Mutation_p.N566S|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374630.3_Missense_Mutation_p.N566S	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													21	313					0	0	1	0	0	G	23222070	A	G	23222070	3	3	22	1	0	0	0	0	1	0	0	0	5203	43	2	3	1727	3	EPHB2	1	23222070	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30618	23222070	226028551	292	2438											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	53					0	0	1	0	0	A	23240353	G	A	23240353	3	1	22	1	0	0	0	0	1	0	0	0	5203	1334	46	2		2	EPHB2	1	23240353	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18283	23240353	226010268	293	2439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	330					0	0	1	0	0	C	23409708	A	C	23409708	3	2	22	1	0	0	0	0	1	0	0	0	8166	333	12	3	2564	3	KDM1A	1	23409708	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	169355	23409708	225840913	294	2440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000418342.1_Silent_p.S307S|LUZP1_ENST00000374623.3_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													57	503					0	0	1	0	0	T	23419834	C	T	23419834	2	4	22	1	0	0	0	0	0	0	0	1	9131	523	19	1		1	LUZP1	1	23419834	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10126	23419834	225830787	295	2441											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	433					1.67525e-54	2.09142e-54	1	1	0	A	23519707	C	A	23519707	3	1	22	1	0	0	0	0	1	0	0	0	7482	739	26	2	131	2	HTR1D	1	23519707	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99873	23519707	225730914	296	2442											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000426846.2_Intron|HNRNPR_ENST00000427764.2_Splice_Site|HNRNPR_ENST00000606561.1_Splice_Site|HNRNPR_ENST00000374616.3_Splice_Site|HNRNPR_ENST00000302271.6_Splice_Site	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													26	277					2.44723e-14	2.65813e-14	1	1	0	A	23650226	C	A	23650226	5	1	22	1	0	0	0	0	0	0	1	0	7313	695	24	2	1436	2	HNRNPR	1	23650226	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130519	23650226	225600395	297	2443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000495646.1_Silent_p.E295E|ASAP3_ENST00000437606.2_Silent_p.E782E|ASAP3_ENST00000484906.1_Intron	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													78	298					0	0	1	0	0	T	23758362	C	T	23758362	2	4	22	1	0	0	0	0	0	0	0	1	1011	912	32	2		2	ASAP3	1	23758362	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108136	23758362	225492259	298	2444											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000495646.1_Missense_Mutation_p.D140N|ASAP3_ENST00000437606.2_Missense_Mutation_p.D627N|ASAP3_ENST00000484906.1_5'UTR	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													69	329					0	0	1	0	0	T	23760792	C	T	23760792	3	4	22	1	0	0	0	0	1	0	0	0	1011	884	31	1	833	1	ASAP3	1	23760792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2430	23760792	225489829	299	2445											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24076437C>T	ENST00000418390.2	+	3	587	c.317_splice	c.e3+1	p.R106_splice	TCEB3_ENST00000487554.1_3'UTR	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													15	117					0	0	1	0	0	T	24076437	C	T	24076437	5	4	22	1	0	0	0	0	0	0	1	0	15741	550	19	1	326	1	TCEB3	1	24076437	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	315645	24076437	225174184	300	2446											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374434.3_Missense_Mutation_p.E1416K|MYOM3_ENST00000338909.5_Missense_Mutation_p.E309K|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													58	165					0	0	1	0	0	T	24383922	C	T	24383922	3	4	22	1	0	0	0	0	1	0	0	0	10141	893	31	1	71	1	MYOM3	1	24383922	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	307485	24383922	224866699	301	2447											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MYOM3_ENST00000374434.3_Missense_Mutation_p.T834I|RP11-293P20.4_ENST00000429191.1_RNA|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													38	336					0	0	1	0	0	A	24406591	G	A	24406591	3	1	22	1	0	0	0	0	1	0	0	0	10141	1377	48	2	1884	2	MYOM3	1	24406591	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22669	24406591	224844030	302	2448											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374434.3_Silent_p.S349S|MYOM3_ENST00000329601.7_Silent_p.S349S|MYOM3_ENST00000475306.1_5'UTR			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													15	103					0	0	1	0	0	T	24419480	C	T	24419480	2	4	22	1	0	0	0	0	0	0	0	1	10141	755	27	1		1	MYOM3	1	24419480	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12889	24419480	224831141	303	2449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356046.2_Missense_Mutation_p.S116N|GRHL3_ENST00000342072.4_Missense_Mutation_p.S69N|GRHL3_ENST00000236255.4_Missense_Mutation_p.S167N|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000350501.5_Missense_Mutation_p.S162N	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													69	611					0	0	1	0	0	A	24663190	G	A	24663190	3	1	22	1	0	0	0	0	1	0	0	0	6806	971	34	2	535	2	GRHL3	1	24663190	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	243710	24663190	224587431	304	2450											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													400	1580					0	0	1	0	0	T	24782746	C	T	24782746	2	4	22	1	0	0	0	0	0	0	0	1	10473	639	23	1		1	NIPAL3	1	24782746	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119556	24782746	224467875	305	2451											
RCAN3	11123	broad.mit.edu	37	chr1	24859587	24859587	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggtgcagatgtccggCgaagtgcgggacaagtccta	15	10	0	1	rs34116411	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24859587C>T	ENST00000374395.4	+	4	697	c.384C>T	c.(382-384)ggC>ggT	p.G128G	RCAN3_ENST00000412742.2_Intron|RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000538532.1_Silent_p.G70G|RCAN3_ENST00000436717.2_Intron	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	128					anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		AGATGTCCGGCGAAGTGCGGG	0.562													23	132					0	0	1	0	0	T	24859587	C	T	24859587	2	4	22	1	0	0	0	0	0	0	0	1	13222	755	27	1		1	RCAN3	1	24859587	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76841	24859587	224391034	306	2452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537199.1_3'UTR|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.R555W|SRRM1_ENST00000447431.2_Missense_Mutation_p.R558W	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													45	189					0	0	1	0	0	T	24993313	C	T	24993313	3	4	22	1	0	0	0	0	1	0	0	0	15224	527	19	1	1686	1	SRRM1	1	24993313	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133726	24993313	224257308	307	2453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.K797Q|SRRM1_ENST00000447431.2_Missense_Mutation_p.K800Q	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													67	497					0	0	1	0	0	C	24996768	A	C	24996768	3	2	22	1	0	0	0	0	1	0	0	0	15224	15	1	3	2420	3	SRRM1	1	24996768	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3455	24996768	224253853	308	2454											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.A845V|SRRM1_ENST00000447431.2_Missense_Mutation_p.A848V	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													22	140					0	0	1	0	0	T	24997983	C	T	24997983	3	4	22	1	0	0	0	0	1	0	0	0	15224	797	28	2	2569	2	SRRM1	1	24997983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1215	24997983	224252638	309	2455											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540420.1_Silent_p.S168S|RUNX3_ENST00000308873.6_Silent_p.S261S|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000338888.3_Silent_p.S275S	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													71	679					0	0	1	0	0	A	25229078	G	A	25229078	2	1	22	1	0	0	0	0	0	0	0	1	13801	1194	42	2		2	RUNX3	1	25229078	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	231095	25229078	224021543	310	2456											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	80					0	0	1	0	0	A	25291031	G	A	25291031	3	1	22	1	0	0	0	0	1	0	0	0	13801	1116	39	1	1297	1	RUNX3	1	25291031	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61953	25291031	223959590	311	2457											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													124	413					1.58838e-66	2.01039e-66	1	1	0	A	25549848	C	A	25549848	3	1	22	1	0	0	0	0	1	0	0	0	15494	681	24	2	94	2	SYF2	1	25549848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	258817	25549848	223700773	312	2458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000423810.2_Missense_Mutation_p.A46T|RHD_ENST00000417538.2_Missense_Mutation_p.A46T|RHD_ENST00000357542.4_Missense_Mutation_p.A46T|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000454452.2_Missense_Mutation_p.A46T|RHD_ENST00000568195.1_Missense_Mutation_p.A46T|RHD_ENST00000342055.5_Missense_Mutation_p.A46T	NM_016124.3	NP_057208.2	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													105	467					0	0	1	0	0	A	25599174	G	A	25599174	3	1	22	1	0	0	0	0	1	0	0	0	13377	1203	42	2	138	2	RHD	1	25599174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49326	25599174	223651447	313	2459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000423810.2_Missense_Mutation_p.A252S|RHD_ENST00000417538.2_Missense_Mutation_p.A252S|RHD_ENST00000357542.4_Missense_Mutation_p.A252S|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000454452.2_Missense_Mutation_p.A252S|RHD_ENST00000568195.1_Missense_Mutation_p.A252S|RHD_ENST00000342055.5_Missense_Mutation_p.A252S	NM_016124.3	NP_057208.2	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													24	843					7.07758e-08	7.37026e-08	1	1	0	T	25628130	G	T	25628130	3	4	22	1	0	0	0	0	1	0	0	0	13377	971	34	2	772	2	RHD	1	25628130	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28956	25628130	223622491	314	2460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000423810.2_3'UTR|RHD_ENST00000417538.2_3'UTR|RHD_ENST00000357542.4_3'UTR|RHD_ENST00000454452.2_3'UTR|RHD_ENST00000568195.1_Silent_p.V427V|RHD_ENST00000328664.4_3'UTR			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													40	152					0	0	1	0	0	T	25655516	C	T	25655516	2	4	22	1	0	0	0	0	0	0	0	1	13377	928	32	2		2	RHD	1	25655516	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27386	25655516	223595105	315	2461											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340849.4_Intron|RHCE_ENST00000294413.7_Missense_Mutation_p.G360D|RHCE_ENST00000349438.4_Nonsense_Mutation_p.W315*|RHCE_ENST00000243186.6_Intron|RHCE_ENST00000374352.2_Missense_Mutation_p.G344D|RHCE_ENST00000455194.1_Missense_Mutation_p.G255D|RHCE_ENST00000346452.4_Missense_Mutation_p.G209D|RHCE_ENST00000413854.1_Intron|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													55	558					0	0	1	0	0	T	25701914	C	T	25701914	4	4	22	1	0	0	0	0	0	1	0	0	13375	740	26	2	186	2	RHCE	1	25701914	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46398	25701914	223548707	316	2462											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399763.3_Intron|TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399766.3_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													157	588					0	0	1	0	0	A	25784913	G	A	25784913	2	1	22	1	0	0	0	0	0	0	0	1	16244	1045	37	1		1	TMEM57	1	25784913	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82999	25784913	223465708	317	2463											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399763.3_Silent_p.K167K|TMEM57_ENST00000399766.3_Silent_p.K298K	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													47	151					0	0	1	0	0	A	25815742	G	A	25815742	2	1	22	1	0	0	0	0	0	0	0	1	16244	991	35	2		2	TMEM57	1	25815742	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30829	25815742	223434879	318	2464											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399763.3_Missense_Mutation_p.R233W|TMEM57_ENST00000399766.3_Missense_Mutation_p.R364W	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													16	189					0	0	1	0	0	T	25818054	C	T	25818054	3	4	22	1	0	0	0	0	1	0	0	0	16244	759	27	1	1809	1	TMEM57	1	25818054	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2312	25818054	223432567	319	2465											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	267					0	0	1	0	0	A	25880492	G	A	25880492	2	1	22	1	0	0	0	0	0	0	0	1	8747	1074	38	1		1	LDLRAP1	1	25880492	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62438	25880492	223370129	320	2466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	207					3.41278e-10	3.61262e-10	1	1	0	T	25893459	G	T	25893459	3	4	22	1	0	0	0	0	1	0	0	0	8747	962	34	2	937	2	LDLRAP1	1	25893459	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12967	25893459	223357162	321	2467											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	58					0	0	1	0	0	A	25944734	G	A	25944734	3	1	22	1	0	0	0	0	1	0	0	0	9263	1116	39	1	448	1	MAN1C1	1	25944734	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51275	25944734	223305887	322	2468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	318					0	0	1	0	0	T	26189357	C	T	26189357	3	4	22	1	0	0	0	0	1	0	0	0	11487	797	28	2	70	2	PAQR7	1	26189357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244623	26189357	223061264	323	2469											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374291.1_Nonsense_Mutation_p.E10*|STMN1_ENST00000357865.2_Nonsense_Mutation_p.E10*|STMN1_ENST00000465604.1_5'UTR|STMN1_ENST00000426559.2_Nonsense_Mutation_p.E10*|STMN1_ENST00000455785.2_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													28	274					2.12542e-12	2.28249e-12	1	1	0	A	26230290	C	A	26230290	4	1	22	1	0	0	0	0	0	1	0	0	15364	922	32	2	584	2	STMN1	1	26230290	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40933	26230290	223020331	324	2470											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	181					0	0	1	0	0	T	26301000	C	T	26301000	2	4	22	1	0	0	0	0	0	0	0	1	11434	796	28	2		2	PAFAH2	1	26301000	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70710	26301000	222949621	325	2471											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	207					3.41278e-10	3.61262e-10	1	1	0	A	26301077	C	A	26301077	4	1	22	1	0	0	0	0	0	1	0	0	11434	690	24	2	367	2	PAFAH2	1	26301077	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77	26301077	222949544	326	2472											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	140					0	0	1	0	0	A	26308959	G	A	26308959	3	1	22	1	0	0	0	0	1	0	0	0	11434	1086	38	1	636	1	PAFAH2	1	26308959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7882	26308959	222941662	327	2473											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	126					0	0	1	0	0	T	26349754	C	T	26349754	3	4	22	1	0	0	0	0	1	0	0	0	5353	652	23	1	619	1	EXTL1	1	26349754	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40795	26349754	222900867	328	2474	20	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	108					0	0	1	0	0	A	26349755	G	A	26349755	2	1	22	1	0	0	0	0	0	0	0	1	5353	1132	40	1		1	EXTL1	1	26349755	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1	26349755	222900866	329	2475	20	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	179					2.47872e-24	2.8326e-24	1	1	0	T	26361822	G	T	26361822	3	4	22	1	0	0	0	0	1	0	0	0	5353	971	34	2	2057	2	EXTL1	1	26361822	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12067	26361822	222888799	330	2476											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	441					0	0	1	0	0	G	26380400	T	G	26380400	2	3	22	1	0	0	0	0	0	0	0	1	16599	1567	55	3		3	TRIM63	1	26380400	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18578	26380400	222870221	331	2477											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361530.6_Missense_Mutation_p.P294L|CNKSR1_ENST00000374253.5_Missense_Mutation_p.P301L			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													9	430					0	0	1	0	0	T	26510587	C	T	26510587	3	4	22	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	332	2478											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361530.6_Missense_Mutation_p.R416H|CNKSR1_ENST00000374253.5_Missense_Mutation_p.R423H			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													7	41					0	0	1	0	0	A	26511616	G	A	26511616	3	1	22	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	333	2479											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	655					1.10923e-09	1.16946e-09	1	1	0	A	26524884	C	A	26524884	2	1	22	1	0	0	0	0	0	0	0	1	2708	784	28	2		2	CATSPER4	1	26524884	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13268	26524884	222725737	334	2480											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	228					2.62258e-09	2.75829e-09	1	1	0	A	26607289	C	A	26607289	3	1	22	1	0	0	0	0	1	0	0	0	14297	680	24	2	88	2	SH3BGRL3	1	26607289	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82405	26607289	222643332	335	2481											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	341					0	0	1	0	0	A	26646758	G	A	26646758	3	1	22	1	0	0	0	0	1	0	0	0	3044	1203	42	2	157	2	CD52	1	26646758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39469	26646758	222603863	336	2482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000403843.1_Missense_Mutation_p.G54D|ZNF683_ENST00000374204.1_Missense_Mutation_p.G54D|ZNF683_ENST00000349618.3_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													6	68					0	0	1	0	0	T	26694242	C	T	26694242	3	4	22	1	0	0	0	0	1	0	0	0	18146	739	26	2	1369	2	ZNF683	1	26694242	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47484	26694242	222556379	337	2483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525682.2_Missense_Mutation_p.A77T|DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000427245.2_Missense_Mutation_p.A77T|DHDDS_ENST00000374185.3_Missense_Mutation_p.A77T|DHDDS_ENST00000526219.1_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													132	474					0	0	1	0	0	A	26769270	G	A	26769270	3	1	22	1	0	0	0	0	1	0	0	0	4506	1087	38	1	239	1	DHDDS	1	26769270	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75028	26769270	222481351	338	2484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374152.2_Missense_Mutation_p.Q228H|ARID1A_ENST00000457599.2_Missense_Mutation_p.Q611H	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"								52	290					9.72345e-25	1.11288e-24	1	1	0	T	27059196	G	T	27059196	3	4	22	1	0	0	0	0	1	0	0	0	910	991	35	2	1847	2	ARID1A	1	27059196	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	289926	27059196	222191425	339	2485											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374152.2_Nonsense_Mutation_p.Q537*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q920*	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"								57	201					0	0	1	0	0	T	27092737	C	T	27092737	4	4	22	1	0	0	0	0	0	1	0	0	910	827	29	2	2792	2	ARID1A	1	27092737	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33541	27092737	222157884	340	2486											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.A1051V|ARID1A_ENST00000457599.2_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"								108	382					0	0	1	0	0	T	27101019	C	T	27101019	3	4	22	1	0	0	0	0	1	0	0	0	910	739	26	2	4371	2	ARID1A	1	27101019	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8282	27101019	222149602	341	2487											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540690.1_Missense_Mutation_p.N128Y|ARID1A_ENST00000374152.2_Missense_Mutation_p.N1417Y|ARID1A_ENST00000457599.2_Missense_Mutation_p.N1583Y	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"								34	286					0	0	1	0	0	T	27105787	A	T	27105787	3	4	22	1	0	0	0	0	1	0	0	0	910	246	9	5	5476	5	ARID1A	1	27105787	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4768	27105787	222144834	342	2488											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	417					0	0	1	0	0	G	27333276	A	G	27333276	3	3	22	1	0	0	0	0	1	0	0	0	5602	159	6	3	844	3	FAM46B	1	27333276	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	227489	27333276	221917345	343	2489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	826					1.32035e-51	1.6395e-51	1	1	0	T	27427125	G	T	27427125	2	4	22	1	0	0	0	0	0	0	0	1	14764	987	35	2		2	SLC9A1	1	27427125	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93849	27427125	221823496	344	2490											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	13	127					0	0	1	0	0	A	27429187	G	A	27429187	2	1	22	1	0	0	0	0	0	0	0	1	14764	1140	40	1		1	SLC9A1	1	27429187	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2062	27429187	221821434	345	2491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	316					0	0	1	0	0	T	27632740	C	T	27632740	3	4	22	1	0	0	0	0	1	0	0	0	17402	768	27	1	1955	1	WDTC1	1	27632740	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	203553	27632740	221617881	346	2492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	274					5.90632e-09	6.19411e-09	1	1	0	T	27677325	G	T	27677325	3	4	22	1	0	0	0	0	1	0	0	0	15539	971	34	2	1048	2	SYTL1	1	27677325	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44585	27677325	221573296	347	2493											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	213					0	0	1	0	0	T	27677441	C	T	27677441	3	4	22	1	0	0	0	0	1	0	0	0	15539	643	23	1	1164	1	SYTL1	1	27677441	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116	27677441	221573180	348	2494											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	400					0	0	1	0	0	T	27697117	C	T	27697117	3	4	22	1	0	0	0	0	1	0	0	0	5826	739	26	2	279	2	FCN3	1	27697117	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19676	27697117	221553504	349	2495											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_005281.2	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													77	300					0	0	1	0	0	A	27721074	G	A	27721074	3	1	22	1	0	0	0	0	1	0	0	0	6726	1087	38	1	774	1	GPR3	1	27721074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23957	27721074	221529547	350	2496											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	586					0	0	1	0	0	T	27741358	C	T	27741358	3	4	22	1	0	0	0	0	1	0	0	0	17313	478	17	2	875	2	WASF2	1	27741358	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20284	27741358	221509263	351	2497											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000482400.2_Intron|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													58	243					0	0	1	0	0	C	27876902	T	C	27876902	2	2	22	1	0	0	0	0	0	0	0	1	409	1567	55	3		3	AHDC1	1	27876902	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	135544	27876902	221373719	352	2498											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000482400.2_5'UTR|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													53	263					0	0	1	0	0	A	27877908	G	A	27877908	3	1	22	1	0	0	0	0	1	0	0	0	409	971	34	2	4096	2	AHDC1	1	27877908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1006	27877908	221372713	353	2499											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545953.1_Missense_Mutation_p.Y422H|FGR_ENST00000399173.1_Missense_Mutation_p.Y488H|FGR_ENST00000374004.1_Missense_Mutation_p.Y488H	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													24	263					0	0	1	0	0	G	27939553	A	G	27939553	3	3	22	1	0	0	0	0	1	0	0	0	5907	391	14	3	131	3	FGR	1	27939553	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	61645	27939553	221311068	354	2500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	228					0	0	1	0	0	A	28120075	G	A	28120075	3	1	22	1	0	0	0	0	1	0	0	0	15394	1087	38	1	230	1	STX12	1	28120075	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180522	28120075	221130546	355	2501											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					46	405					0	0	1	0	0	A	28218701	G	A	28218701	2	1	22	1	0	0	0	0	0	0	0	1	13589	1252	44	2		2	RPA2	1	28218701	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98626	28218701	221031920	356	2502											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	360					0	0	1	0	0	G	28293620	A	G	28293620	3	3	22	1	0	0	0	0	1	0	0	0	17497	449	16	3	1107	3	XKR8	1	28293620	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	74919	28293620	220957001	357	2503											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	305					0.00010058	0.000102273	1	1	0	A	28601432	C	A	28601432	3	1	22	1	0	0	0	0	1	0	0	0	14179	681	24	2	1147	2	SESN2	1	28601432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	307812	28601432	220649189	358	2504											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	382					0	0	1	0	0	T	28607282	C	T	28607282	3	4	22	1	0	0	0	0	1	0	0	0	14179	739	26	2	1450	2	SESN2	1	28607282	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5850	28607282	220643339	359	2505											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	831					0	0	1	0	0	T	28800249	C	T	28800249	3	4	22	1	0	0	0	0	1	0	0	0	11860	594	21	2	1079	2	PHACTR4	1	28800249	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192967	28800249	220450372	360	2506											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	680					0	0	1	0	0	A	28807089	G	A	28807089	3	1	22	1	0	0	0	0	1	0	0	0	11860	1116	39	1	1813	1	PHACTR4	1	28807089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6840	28807089	220443532	361	2507											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373833.6_Intron|RCC1_ENST00000373832.1_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													15	151					0	0	1	0	0	A	28857092	G	A	28857092	3	1	22	1	0	0	0	0	1	0	0	0	13225	1319	46	2	137	2	RCC1	1	28857092	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50003	28857092	220393529	362	2508											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373831.3_Missense_Mutation_p.R356W|RCC1_ENST00000373832.1_Missense_Mutation_p.R325W|RCC1_ENST00000398958.2_Missense_Mutation_p.R325W			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													132	543					0	0	1	0	0	T	28863294	C	T	28863294	3	4	22	1	0	0	0	0	1	0	0	0	13225	759	27	1	1100	1	RCC1	1	28863294	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6202	28863294	220387327	363	2509											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	452					1.48734e-19	1.65976e-19	1	1	0	T	28891240	G	T	28891240	3	4	22	1	0	0	0	0	1	0	0	0	16633	1174	41	2	322	2	TRNAU1AP	1	28891240	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27946	28891240	220359381	364	2510											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	338					0	0	1	0	0	A	29030754	G	A	29030754	3	1	22	1	0	0	0	0	1	0	0	0	6529	943	33	2	837	2	GMEB1	1	29030754	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139514	29030754	220219867	365	2511											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	364					0	0	1	0	0	C	29037105	A	C	29037105	3	2	22	1	0	0	0	0	1	0	0	0	6529	243	9	3	1002	3	GMEB1	1	29037105	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6351	29037105	220213516	366	2512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	71					0	0	1	0	0	A	29189517	G	A	29189517	3	1	22	1	0	0	0	0	1	0	0	0	10932	1145	40	1	851	1	OPRD1	1	29189517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152412	29189517	220061104	367	2513											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	119					0	0	1	0	0	T	29447499	C	T	29447499	3	4	22	1	0	0	0	0	1	0	0	0	16184	884	31	1	85	1	TMEM200B	1	29447499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257982	29447499	219803122	368	2514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373779.3_Missense_Mutation_p.A336T|PTPRU_ENST00000428026.2_Missense_Mutation_p.A336T|PTPRU_ENST00000345512.3_Missense_Mutation_p.A336T|PTPRU_ENST00000460170.2_Missense_Mutation_p.A336T|PTPRU_ENST00000323874.8_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													26	353					0	0	1	0	0	A	29587277	G	A	29587277	3	1	22	1	0	0	0	0	1	0	0	0	12865	1087	38	1	1032	1	PTPRU	1	29587277	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139778	29587277	219663344	369	2515											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Missense_Mutation_p.E640D|PTPRU_ENST00000428026.2_Missense_Mutation_p.E640D|PTPRU_ENST00000345512.3_Missense_Mutation_p.E640D|PTPRU_ENST00000460170.2_Missense_Mutation_p.E640D|PTPRU_ENST00000323874.8_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													38	280					4.07013e-28	4.72867e-28	1	1	0	T	29609239	G	T	29609239	3	4	22	1	0	0	0	0	1	0	0	0	12865	962	34	2	1966	2	PTPRU	1	29609239	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21962	29609239	219641382	370	2516											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Missense_Mutation_p.R722H|PTPRU_ENST00000428026.2_Missense_Mutation_p.R722H|PTPRU_ENST00000345512.3_Missense_Mutation_p.R722H|PTPRU_ENST00000460170.2_Missense_Mutation_p.R722H|PTPRU_ENST00000323874.8_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													86	630					0	0	1	0	0	A	29610474	G	A	29610474	3	1	22	1	0	0	0	0	1	0	0	0	12865	1087	38	1	2215	1	PTPRU	1	29610474	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1235	29610474	219640147	371	2517											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Missense_Mutation_p.G1000R|PTPRU_ENST00000428026.2_Missense_Mutation_p.G997R|PTPRU_ENST00000345512.3_Missense_Mutation_p.G1010R|PTPRU_ENST00000460170.2_Missense_Mutation_p.G1006R|PTPRU_ENST00000323874.8_Missense_Mutation_p.G1006R	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													128	536					0	0	1	0	0	A	29638197	G	A	29638197	3	1	22	1	0	0	0	0	1	0	0	0	12865	1116	39	1	3136	1	PTPRU	1	29638197	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27723	29638197	219612424	372	2518											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	106					0	0	1	0	0	T	31189685	C	T	31189685	3	4	22	1	0	0	0	0	1	0	0	0	9383	768	27	1	768	1	MATN1	1	31189685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1551488	31189685	218060936	373	2519											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	866					5.91559e-30	6.92642e-30	1	1	0	A	31208047	C	A	31208047	3	1	22	1	0	0	0	0	1	0	0	0	8665	912	32	2	124	2	LAPTM5	1	31208047	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18362	31208047	218042574	374	2520											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	37					0.0215528	0.0216335	1	1	0	A	31211857	C	A	31211857	3	1	22	1	0	0	0	0	1	0	0	0	8665	797	28	2	364	2	LAPTM5	1	31211857	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3810	31211857	218038764	375	2521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	146					0	0	1	0	0	T	31230535	C	T	31230535	3	4	22	1	0	0	0	0	1	0	0	0	8665	768	27	1	762	1	LAPTM5	1	31230535	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18678	31230535	218020086	376	2522											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	128					0	0	1	0	0	T	31349524	C	T	31349524	3	4	22	1	0	0	0	0	1	0	0	0	14007	507	18	2	595	2	SDC3	1	31349524	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118989	31349524	217901097	377	2523											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	169					0	0	1	0	0	A	31766156	G	A	31766156	2	1	22	1	0	0	0	0	0	0	0	1	14910	962	34	2		2	SNRNP40	1	31766156	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	416632	31766156	217484465	378	2524											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373709.3_Silent_p.T353T|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536384.1_Silent_p.T357T|SERINC2_ENST00000536859.1_Silent_p.T357T	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													13	119					0	0	1	0	0	T	31905859	C	T	31905859	2	4	22	1	0	0	0	0	0	0	0	1	14134	639	23	1		1	SERINC2	1	31905859	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139703	31905859	217344762	379	2525											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Missense_Mutation_p.G316S	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													140	472					0	0	1	0	0	A	32050933	G	A	32050933	3	1	22	1	0	0	0	0	1	0	0	0	15982	1116	39	1	1065	1	TINAGL1	1	32050933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145074	32050933	217199688	380	2526											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373705.1_Missense_Mutation_p.L49I|HCRTR1_ENST00000468521.1_3'UTR	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													81	758					7.29696e-51	9.04737e-51	1	1	0	A	32084938	C	A	32084938	3	1	22	1	0	0	0	0	1	0	0	0	7042	681	24	2	147	2	HCRTR1	1	32084938	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34005	32084938	217165683	381	2527											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	254					0.000117367	0.000119338	1	1	0	A	32133784	C	A	32133784	2	1	22	1	0	0	0	0	0	0	0	1	3696	639	23	4		4	COL16A1	1	32133784	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48846	32133784	217116837	382	2528											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	305					0	0	1	0	0	C	32138370	T	C	32138370	2	2	22	1	0	0	0	0	0	0	0	1	3696	1538	54	3		3	COL16A1	1	32138370	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4586	32138370	217112251	383	2529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440175.2_Silent_p.A999A|BAI2_ENST00000398556.3_Silent_p.A1305A|BAI2_ENST00000257070.4_Silent_p.A1357A|BAI2_ENST00000373655.2_Silent_p.A1390A|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000527361.1_Silent_p.A1357A|BAI2_ENST00000398538.1_Silent_p.A1378A|BAI2_ENST00000398547.1_Silent_p.A1323A|BAI2_ENST00000398542.1_Silent_p.A1290A	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													24	162					0	0	1	0	0	A	32196611	G	A	32196611	2	1	22	1	0	0	0	0	0	0	0	1	1297	1219	43	2		2	BAI2	1	32196611	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58241	32196611	217054010	384	2530											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440175.2_Silent_p.C824C|BAI2_ENST00000398556.3_Silent_p.C1130C|BAI2_ENST00000257070.4_Silent_p.C1182C|BAI2_ENST00000373655.2_Silent_p.C1215C|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000527361.1_Silent_p.C1182C|BAI2_ENST00000398538.1_Silent_p.C1203C|BAI2_ENST00000398547.1_Silent_p.C1148C|BAI2_ENST00000398542.1_Silent_p.C1115C	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													11	130					0	0	1	0	0	A	32198193	G	A	32198193	2	1	22	1	0	0	0	0	0	0	0	1	1297	1195	42	2		2	BAI2	1	32198193	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1582	32198193	217052428	385	2531											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440175.2_Missense_Mutation_p.A125V|BAI2_ENST00000398556.3_Missense_Mutation_p.A431V|BAI2_ENST00000257070.4_Missense_Mutation_p.A483V|BAI2_ENST00000373655.2_Missense_Mutation_p.A483V|BAI2_ENST00000527361.1_Missense_Mutation_p.A483V|BAI2_ENST00000398538.1_Missense_Mutation_p.A471V|BAI2_ENST00000398547.1_Missense_Mutation_p.A416V|BAI2_ENST00000398542.1_Missense_Mutation_p.A416V	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													67	287					0	0	1	0	0	A	32207538	G	A	32207538	3	1	22	1	0	0	0	0	1	0	0	0	1297	1087	38	1	3409	1	BAI2	1	32207538	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9345	32207538	217043083	386	2532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398556.3_Missense_Mutation_p.G243C|BAI2_ENST00000257070.4_Missense_Mutation_p.G240C|BAI2_ENST00000373655.2_Missense_Mutation_p.G240C|BAI2_ENST00000527361.1_Missense_Mutation_p.G240C|BAI2_ENST00000398538.1_Missense_Mutation_p.G228C|BAI2_ENST00000398547.1_Missense_Mutation_p.G228C|BAI2_ENST00000398542.1_Missense_Mutation_p.G228C	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													23	319					1.87028e-06	1.92935e-06	1	1	0	A	32221720	C	A	32221720	3	1	22	1	0	0	0	0	1	0	0	0	1297	681	24	2	4159	2	BAI2	1	32221720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14182	32221720	217028901	387	2533											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533231.1_Missense_Mutation_p.E1031D|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.E524D|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													14	118					1.3612e-06	1.40558e-06	1	1	0	A	32256723	C	A	32256723	3	1	22	1	0	0	0	0	1	0	0	0	15134	912	32	2	522	2	SPOCD1	1	32256723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35003	32256723	216993898	388	2534											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533231.1_Missense_Mutation_p.G888R|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.G381R	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													13	61					0	0	1	0	0	T	32258902	C	T	32258902	3	4	22	1	0	0	0	0	1	0	0	0	15134	632	22	2	1004	2	SPOCD1	1	32258902	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2179	32258902	216991719	389	2535											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533231.1_Silent_p.E754E|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Silent_p.E247E	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													50	415					0	0	1	0	0	T	32262200	C	T	32262200	2	4	22	1	0	0	0	0	0	0	0	1	15134	680	24	2		2	SPOCD1	1	32262200	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3298	32262200	216988421	390	2536											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533231.1_Missense_Mutation_p.A384T|SPOCD1_ENST00000373648.2_Missense_Mutation_p.A384T|SPOCD1_ENST00000257100.3_Intron	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													12	75					0	0	1	0	0	T	32279785	C	T	32279785	3	4	22	1	0	0	0	0	1	0	0	0	15134	768	27	1	2560	1	SPOCD1	1	32279785	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17585	32279785	216970836	391	2537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533231.1_Missense_Mutation_p.S137N|SPOCD1_ENST00000373648.2_Missense_Mutation_p.S137N|SPOCD1_ENST00000257100.3_Intron	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													85	559					0	0	1	0	0	T	32280525	C	T	32280525	3	4	22	1	0	0	0	0	1	0	0	0	15134	797	28	2	3300	2	SPOCD1	1	32280525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	740	32280525	216970096	392	2538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373634.4_Missense_Mutation_p.R221W|TMEM39B_ENST00000487305.1_3'UTR	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													80	405					0	0	1	0	0	T	32568053	C	T	32568053	3	4	22	1	0	0	0	0	1	0	0	0	16222	759	27	1	1292	1	TMEM39B	1	32568053	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	287528	32568053	216682568	393	2539											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537234.1_Missense_Mutation_p.N8S|KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Missense_Mutation_p.N16S	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													21	266					0	0	1	0	0	G	32620216	A	G	32620216	3	3	22	1	0	0	0	0	1	0	0	0	8477	101	4	3	38	3	KPNA6	1	32620216	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52163	32620216	216630405	394	2540											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000336890.5_Missense_Mutation_p.R39Q|LCK_ENST00000373564.3_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								30	243					0	0	1	0	0	A	32740348	G	A	32740348	3	1	22	1	0	0	0	0	1	0	0	0	8715	1058	37	1	122	1	LCK	1	32740348	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120132	32740348	216510273	395	2541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526031.1_Missense_Mutation_p.P235L|BSDC1_ENST00000446293.2_Missense_Mutation_p.P347L|BSDC1_ENST00000419121.2_Missense_Mutation_p.P274L|BSDC1_ENST00000455895.2_Missense_Mutation_p.P330L|BSDC1_ENST00000413080.1_Missense_Mutation_p.P269L|BSDC1_ENST00000449308.1_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													49	513					0	0	1	0	0	A	32842030	G	A	32842030	3	1	22	1	0	0	0	0	1	0	0	0	1530	1232	43	2	315	2	BSDC1	1	32842030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101682	32842030	216408591	396	2542											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	157					0	0	1	0	0	T	33058584	C	T	33058584	3	4	22	1	0	0	0	0	1	0	0	0	17615	768	27	1	54	1	ZBTB8A	1	33058584	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	216554	33058584	216192037	397	2543											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33233558G>T	ENST00000401073.2	+	2	476	c.406_splice	c.e2+1	p.E136_splice	KIAA1522_ENST00000294521.3_Splice_Site_p.E77_splice|KIAA1522_ENST00000373481.3_Splice_Site_p.E88_splice|KIAA1522_ENST00000373480.1_Splice_Site_p.E77_splice	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													20	383					5.03518e-11	5.3609e-11	1	1	0	T	33233558	G	T	33233558	5	4	22	1	0	0	0	0	0	0	1	0	8280	1014	35	2	412	2	KIAA1522	1	33233558	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174974	33233558	216017063	398	2544											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.E288E|KIAA1522_ENST00000373480.1_Silent_p.E277E	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													47	410					0	0	1	0	0	A	33235788	G	A	33235788	2	1	22	1	0	0	0	0	0	0	0	1	8280	962	34	2		2	KIAA1522	1	33235788	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2230	33235788	216014833	399	2545											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.R431R|KIAA1522_ENST00000373480.1_Silent_p.R420R	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													14	130					0	0	1	0	0	A	33236217	G	A	33236217	2	1	22	1	0	0	0	0	0	0	0	1	8280	1161	41	2		2	KIAA1522	1	33236217	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	429	33236217	216014404	400	2546											
TMEM54	113452	broad.mit.edu	37	chr1	33360427	33360427	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagggtcagaggctcagaGctggtgcagctcagcaggtc	16	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33360427G>T	ENST00000373463.3	-	6	767	c.648C>A	c.(646-648)agC>agA	p.S216R	TMEM54_ENST00000329151.5_Missense_Mutation_p.S163R	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	216						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAGGCTCAGAGCTGGTGCAGC	0.627													82	318					2.38877e-28	2.77873e-28	1	1	0	T	33360427	G	T	33360427	3	4	22	1	0	0	0	0	1	0	0	0	16240	962	34	2	24	2	TMEM54	1	33360427	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124210	33360427	215890194	401	2547											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	513					1.76689e-08	1.84553e-08	1	1	0	A	33407890	C	A	33407890	3	1	22	1	0	0	0	0	1	0	0	0	13523	594	21	2	660	2	RNF19B	1	33407890	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47463	33407890	215842731	402	2548											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	239					0	0	1	0	0	T	33409668	C	T	33409668	3	4	22	1	0	0	0	0	1	0	0	0	13523	661	23	1	883	1	RNF19B	1	33409668	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1778	33409668	215840953	403	2549											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	125					9.04072e-19	1.00536e-18	1	1	0	T	33412058	G	T	33412058	3	4	22	1	0	0	0	0	1	0	0	0	13523	971	34	2	1154	2	RNF19B	1	33412058	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2390	33412058	215838563	404	2550											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000487289.1_Missense_Mutation_p.R103Q|AK2_ENST00000480134.1_Missense_Mutation_p.R103Q|AK2_ENST00000548033.1_Missense_Mutation_p.R61Q|AK2_ENST00000467905.1_Missense_Mutation_p.R103Q|AK2_ENST00000354858.6_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													57	227					0	0	1	0	0	T	33487216	C	T	33487216	3	4	22	1	0	0	0	0	1	0	0	0	437	652	23	1	436	1	AK2	1	33487216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75158	33487216	215763405	405	2551											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543586.1_Silent_p.I110I|TRIM62_ENST00000485148.1_5'UTR	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													11	376					0	0	1	0	0	A	33625357	G	A	33625357	2	1	22	1	0	0	0	0	0	0	0	1	16598	1164	41	2		2	TRIM62	1	33625357	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138141	33625357	215625264	406	2552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431992.1_Missense_Mutation_p.P723H|PHC2_ENST00000373416.1_Missense_Mutation_p.P217H|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373418.3_Missense_Mutation_p.P217H|PHC2_ENST00000419414.2_Missense_Mutation_p.P753H|PHC2_ENST00000373422.3_Missense_Mutation_p.P358H	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													45	462					2.37825e-27	2.75276e-27	1	1	0	T	33794638	G	T	33794638	3	4	22	1	0	0	0	0	1	0	0	0	11865	1232	43	2	329	2	PHC2	1	33794638	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169281	33794638	215455983	407	2553											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431992.1_Silent_p.L615L|PHC2_ENST00000373416.1_Silent_p.L109L|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373418.3_Silent_p.L109L|PHC2_ENST00000419414.2_Silent_p.L645L|PHC2_ENST00000373422.3_Silent_p.L250L	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													62	573					2.54232e-27	2.94239e-27	1	1	0	T	33797020	G	T	33797020	2	4	22	1	0	0	0	0	0	0	0	1	11865	929	33	2		2	PHC2	1	33797020	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2382	33797020	215453601	408	2554											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_660281.2	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													44	386					0	0	1	0	0	T	33960721	C	T	33960721	3	4	22	1	0	0	0	0	1	0	0	0	18273	565	20	2	2803	2	ZSCAN20	1	33960721	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163701	33960721	215289900	409	2555											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_660281.2	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													33	292					0	0	1	0	0	C	33960823	A	C	33960823	3	2	22	1	0	0	0	0	1	0	0	0	18273	14	1	3	2905	3	ZSCAN20	1	33960823	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	102	33960823	215289798	410	2556											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	182					0	0	1	0	0	T	34663476	C	T	34663476	3	4	22	1	0	0	0	0	1	0	0	0	2085	623	22	2	977	2	C1orf94	1	34663476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	702653	34663476	214587145	411	2557											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	150					1.06647e-15	1.16694e-15	1	1	0	A	34666546	C	A	34666546	3	1	22	1	0	0	0	0	1	0	0	0	2085	797	28	2	1193	2	C1orf94	1	34666546	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3070	34666546	214584075	412	2558											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	236					0	0	1	0	0	T	35223537	C	T	35223537	2	4	22	1	0	0	0	0	0	0	0	1	6453	871	31	1		1	GJB5	1	35223537	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	556991	35223537	214027084	413	2559											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	122					0	0	1	0	0	T	35260722	C	T	35260722	3	4	22	1	0	0	0	0	1	0	0	0	6445	855	30	2	910	2	GJA4	1	35260722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37185	35260722	213989899	414	2560											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	277					3.65163e-15	3.98403e-15	1	1	0	T	35370403	G	T	35370403	3	4	22	1	0	0	0	0	1	0	0	0	4589	1020	36	2	2397	2	DLGAP3	1	35370403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109681	35370403	213880218	415	2561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	169					0	0	1	0	0	C	35578670	T	C	35578670	2	2	22	1	0	0	0	0	0	0	0	1	17757	1664	58	3		3	ZMYM1	1	35578670	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	208267	35578670	213671951	416	2562											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	112					0	0	1	0	0	C	35580389	T	C	35580389	2	2	22	1	0	0	0	0	0	0	0	1	17757	1809	63	3		3	ZMYM1	1	35580389	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1719	35580389	213670232	417	2563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373297.2_Missense_Mutation_p.L175I|ZMYM4-AS1_ENST00000432683.1_RNA	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													17	154					3.57192e-18	3.96073e-18	1	1	0	A	35824963	C	A	35824963	3	1	22	1	0	0	0	0	1	0	0	0	17760	680	24	2	533	2	ZMYM4	1	35824963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244574	35824963	213425658	418	2564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	608					0	0	1	0	0	G	35873657	A	G	35873657	3	3	22	1	0	0	0	0	1	0	0	0	17760	304	11	3	3947	3	ZMYM4	1	35873657	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48694	35873657	213376964	419	2565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	217					2.50483e-33	2.96817e-33	1	1	0	A	35900633	C	A	35900633	3	1	22	1	0	0	0	0	1	0	0	0	8211	564	20	2	141	2	KIAA0319L	1	35900633	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26976	35900633	213349988	420	2566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356090.4_Missense_Mutation_p.R148C|NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000373253.3_Missense_Mutation_p.R131C	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													37	958					0	0	1	0	0	T	36026194	C	T	36026194	3	4	22	1	0	0	0	0	1	0	0	0	10261	652	23	1	452	1	NCDN	1	36026194	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125561	36026194	213224427	421	2567											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356090.4_Silent_p.L418L|NCDN_ENST00000373253.3_Silent_p.L401L	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													29	217					0	0	1	0	0	A	36028103	G	A	36028103	2	1	22	1	0	0	0	0	0	0	0	1	10261	1306	46	2		2	NCDN	1	36028103	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1909	36028103	213222518	422	2568											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356090.4_Silent_p.T571T|NCDN_ENST00000373253.3_Silent_p.T554T	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													30	294					0	0	1	0	0	T	36029470	C	T	36029470	2	4	22	1	0	0	0	0	0	0	0	1	10261	610	22	2		2	NCDN	1	36029470	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1367	36029470	213221151	423	2569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	260					0	0	1	0	0	T	36053933	C	T	36053933	3	4	22	1	0	0	0	0	1	0	0	0	15851	739	26	2	579	2	TFAP2E	1	36053933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24463	36053933	213196688	424	2570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CLSPN_ENST00000520551.1_Missense_Mutation_p.E977K|CLSPN_ENST00000373220.3_Missense_Mutation_p.E966K|RP11-435D7.3_ENST00000373226.2_RNA|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													76	620					0	0	1	0	0	T	36208797	C	T	36208797	3	4	22	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	425	2571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	110					0	0	1	0	0	T	36553677	C	T	36553677	3	4	22	1	0	0	0	0	1	0	0	0	15812	768	27	1	1217	1	TEKT2	1	36553677	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	344880	36553677	212696944	426	2572											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	271					1.75807e-36	2.10477e-36	1	1	0	A	36558779	C	A	36558779	3	1	22	1	0	0	0	0	1	0	0	0	332	681	24	2	906	2	ADPRHL2	1	36558779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5102	36558779	212691842	427	2573											
COL8A2	1296	broad.mit.edu	37	chr1	36563558	36563558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcaccgcagtgaaggccGgtgtggcatgggcagacagc	17	10	0	3	rs145553904	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36563558G>A	ENST00000397799.1	-	4	1948	c.1724C>T	c.(1723-1725)cCg>cTg	p.P575L	COL8A2_ENST00000303143.4_Missense_Mutation_p.P575L|COL8A2_ENST00000481785.1_Missense_Mutation_p.P510L			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	575	C1q.|Nonhelical region (NC1).		P -> L (in FECD1; uncertain pathogenicity).		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)				AGTGAAGGCCGGTGTGGCATG	0.667													11	119					0	0	1	0	0	A	36563558	G	A	36563558	3	1	22	1	0	0	0	0	1	0	0	0	3729	1116	39	1	391	1	COL8A2	1	36563558	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4779	36563558	212687063	428	2574											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	60					0	0	1	0	0	T	36563619	C	T	36563619	3	4	22	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	61	36563619	212687002	429	2575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	70					0	0	1	0	0	T	36563679	C	T	36563679	3	4	22	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	2576											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	140					0	0	1	0	0	T	36564482	C	T	36564482	3	4	22	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	2577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373150.4_Silent_p.N257N|MAP7D1_ENST00000316156.4_Intron|MAP7D1_ENST00000474796.1_3'UTR	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													32	189					0	0	1	0	0	T	36640530	C	T	36640530	2	4	22	1	0	0	0	0	0	0	0	1	9317	506	18	2		2	MAP7D1	1	36640530	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76048	36640530	212610091	432	2578											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373150.4_Silent_p.L411L|MAP7D1_ENST00000373151.2_Silent_p.L443L|MAP7D1_ENST00000474796.1_3'UTR			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													7	54					0	0	1	0	0	A	36642393	G	A	36642393	2	1	22	1	0	0	0	0	0	0	0	1	9317	1306	46	2		2	MAP7D1	1	36642393	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1863	36642393	212608228	433	2579											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373150.4_Missense_Mutation_p.A421T|MAP7D1_ENST00000373151.2_Missense_Mutation_p.A453T|MAP7D1_ENST00000474796.1_3'UTR			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													6	48					0	0	1	0	0	A	36642421	G	A	36642421	3	1	22	1	0	0	0	0	1	0	0	0	9317	1319	46	2	1387	2	MAP7D1	1	36642421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28	36642421	212608200	434	2580											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								34	267					3.11337e-16	3.41587e-16	1	1	0	T	36766592	G	T	36766592	3	4	22	1	0	0	0	0	1	0	0	0	15934	991	35	2	2439	2	THRAP3	1	36766592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124171	36766592	212484029	435	2581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	462					2.53126e-37	3.03882e-37	1	1	0	T	36921477	G	T	36921477	3	4	22	1	0	0	0	0	1	0	0	0	9874	971	34	2	91	2	MRPS15	1	36921477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154885	36921477	212329144	436	2582											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373106.1_Missense_Mutation_p.F156S|CSF3R_ENST00000338937.5_Missense_Mutation_p.F156S|CSF3R_ENST00000331941.5_Missense_Mutation_p.F156S|CSF3R_ENST00000373104.1_Missense_Mutation_p.F156S|CSF3R_ENST00000440588.2_Missense_Mutation_p.F156S|CSF3R_ENST00000361632.4_Missense_Mutation_p.F156S|CSF3R_ENST00000418048.2_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													62	214					0	0	1	0	0	G	36939383	A	G	36939383	3	3	22	1	0	0	0	0	1	0	0	0	3962	246	9	3	2285	3	CSF3R	1	36939383	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17906	36939383	212311238	437	2583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	334					0	0	1	0	0	T	37947216	C	T	37947216	3	4	22	1	0	0	0	0	1	0	0	0	17620	759	27	1	608	1	ZC3H12A	1	37947216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1007833	37947216	211303405	438	2584											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	272					0	0	1	0	0	T	37948755	C	T	37948755	3	4	22	1	0	0	0	0	1	0	0	0	17620	893	31	1	1361	1	ZC3H12A	1	37948755	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1539	37948755	211301866	439	2585											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	411					0	0	1	0	0	A	38003439	G	A	38003439	2	1	22	1	0	0	0	0	0	0	0	1	14902	1140	40	1		1	SNIP1	1	38003439	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54684	38003439	211247182	440	2586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													139	582					8.12429e-59	1.01946e-58	1	1	0	A	38006201	C	A	38006201	3	1	22	1	0	0	0	0	1	0	0	0	14902	680	24	2	715	2	SNIP1	1	38006201	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2762	38006201	211244420	441	2587											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	252					0	0	1	0	0	C	38040330	T	C	38040330	3	2	22	1	0	0	0	0	1	0	0	0	6578	1435	50	3	981	3	GNL2	1	38040330	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34129	38040330	211210291	442	2588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	423					0	0	1	0	0	G	38042031	T	G	38042031	3	3	22	1	0	0	0	0	1	0	0	0	6578	1850	64	3	1191	3	GNL2	1	38042031	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1701	38042031	211208590	443	2589											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373059.1_Missense_Mutation_p.D58N|RSPO1_ENST00000401069.1_Missense_Mutation_p.D85N|RSPO1_ENST00000401068.1_Missense_Mutation_p.D85N|RSPO1_ENST00000401071.2_Missense_Mutation_p.D85N|RSPO1_ENST00000401070.1_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													66	277					0	0	1	0	0	T	38082189	C	T	38082189	3	4	22	1	0	0	0	0	1	0	0	0	13761	884	31	1	554	1	RSPO1	1	38082189	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40158	38082189	211168432	444	2590											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373059.1_Silent_p.C48C|RSPO1_ENST00000401069.1_Silent_p.C75C|RSPO1_ENST00000401068.1_Silent_p.C75C|RSPO1_ENST00000401071.2_Silent_p.C75C|RSPO1_ENST00000401070.1_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													46	378					0	0	1	0	0	A	38082217	G	A	38082217	2	1	22	1	0	0	0	0	0	0	0	1	13761	963	34	2		2	RSPO1	1	38082217	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28	38082217	211168404	445	2591											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	677					0	0	1	0	0	T	38168953	C	T	38168953	3	4	22	1	0	0	0	0	1	0	0	0	3114	739	26	2	544	2	CDCA8	1	38168953	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86736	38168953	211081668	446	2592											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_Intron|EPHA10_ENST00000330210.7_Missense_Mutation_p.S393I	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													48	161					1.4374e-25	1.6504e-25	1	1	0	A	38185149	C	A	38185149	3	1	22	1	0	0	0	0	1	0	0	0	5194	797	28	2	345	2	EPHA10	1	38185149	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16196	38185149	211065472	447	2593											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.E189D	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													34	121					2.42023e-17	2.67004e-17	1	1	0	A	38187396	C	A	38187396	3	1	22	1	0	0	0	0	1	0	0	0	5194	680	24	2	972	2	EPHA10	1	38187396	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2247	38187396	211063225	448	2594											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_Silent_p.V62V|EPHA10_ENST00000330210.7_Silent_p.V62V	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													14	196					0	0	1	0	0	A	38192845	G	A	38192845	2	1	22	1	0	0	0	0	0	0	0	1	5194	1045	37	1		1	EPHA10	1	38192845	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5449	38192845	211057776	449	2595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	644					0	0	1	0	0	T	38227628	C	T	38227628	3	4	22	1	0	0	0	0	1	0	0	0	5194	768	27	1	2825	1	EPHA10	1	38227628	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34783	38227628	211022993	450	2596											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38272774G>A	ENST00000373044.2	-	2	507	c.504_splice	c.e2+1	p.P168_splice	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													51	239					0	0	1	0	0	A	38272774	G	A	38272774	5	1	22	1	0	0	0	0	0	0	1	0	17554	1014	35	2	352	2	YRDC	1	38272774	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45146	38272774	210977847	451	2597											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	228					4.21674e-32	4.97474e-32	1	1	0	T	38287880	G	T	38287880	2	4	22	1	0	0	0	0	0	0	0	1	9970	1164	41	2		2	MTF1	1	38287880	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15106	38287880	210962741	452	2598											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	304					0	0	1	0	0	A	38305726	G	A	38305726	2	1	22	1	0	0	0	0	0	0	0	1	9970	929	33	2		2	MTF1	1	38305726	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17846	38305726	210944895	453	2599											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373024.3_Silent_p.V562V|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373026.1_Silent_p.V642V|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													6	151					0	0	1	0	0	A	38341380	G	A	38341380	2	1	22	1	0	0	0	0	0	0	0	1	7799	1045	37	1		1	INPP5B	1	38341380	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35654	38341380	210909241	454	2600											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	311					0	0	1	0	0	A	38463411	G	A	38463411	2	1	22	1	0	0	0	0	0	0	0	1	5913	987	35	2		2	FHL3	1	38463411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122031	38463411	210787210	455	2601											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	276					0	0	1	0	0	T	38463501	C	T	38463501	4	4	22	1	0	0	0	0	0	1	0	0	5913	740	26	2	307	2	FHL3	1	38463501	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90	38463501	210787120	456	2602											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	189					0	0	1	0	0	C	38483358	A	C	38483358	3	2	22	1	0	0	0	0	1	0	0	0	17154	69	3	3	154	3	UTP11L	1	38483358	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19857	38483358	210767263	457	2603											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	254					0	0	1	0	0	A	38511485	G	A	38511485	3	1	22	1	0	0	0	0	1	0	0	0	12320	1203	42	2	428	2	POU3F1	1	38511485	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28127	38511485	210739136	458	2604											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	GJA9_ENST00000360786.3_Silent_p.G460G|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000454994.2_Intron|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR	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													44	315					0	0	1	0	0	C	39340391	T	C	39340391	2	2	22	1	0	0	0	0	0	0	0	1	6448	1538	54	3		3	GJA9	1	39340391	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	828906	39340391	209910230	459	2605											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361689.2_Missense_Mutation_p.D1334N|MACF1_ENST00000567887.1_Missense_Mutation_p.D1366N|MACF1_ENST00000545844.1_Missense_Mutation_p.D1334N|MACF1_ENST00000317713.7_Missense_Mutation_p.D1334N|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Missense_Mutation_p.D1334N|MACF1_ENST00000539005.1_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													33	273					0	0	1	0	0	A	39785375	G	A	39785375	3	1	22	1	0	0	0	0	1	0	0	0	9190	1174	41	2	4118	2	MACF1	1	39785375	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	444984	39785375	209465246	460	2606											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Silent_p.L1821L|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Silent_p.L224L|MACF1_ENST00000372915.3_Silent_p.L1789L|MACF1_ENST00000539005.1_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													21	313					0	0	1	0	0	C	39797612	T	C	39797612	2	2	22	1	0	0	0	0	0	0	0	1	9190	1741	61	3		3	MACF1	1	39797612	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12237	39797612	209453009	461	2607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.H2197Q|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.H600Q|MACF1_ENST00000372915.3_Missense_Mutation_p.H2165Q|MACF1_ENST00000539005.1_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													20	272					0	0	1	0	0	A	39798740	T	A	39798740	3	1	22	1	0	0	0	0	1	0	0	0	9190	1432	50	5	6571	5	MACF1	1	39798740	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1128	39798740	209451881	462	2608											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Silent_p.N2285N|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Silent_p.N688N|MACF1_ENST00000372915.3_Silent_p.N2253N|MACF1_ENST00000539005.1_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													17	434					0	0	1	0	0	T	39799004	C	T	39799004	2	4	22	1	0	0	0	0	0	0	0	1	9190	477	17	2		2	MACF1	1	39799004	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	264	39799004	209451617	463	2609											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Silent_p.Q2519Q|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Silent_p.Q922Q|MACF1_ENST00000372915.3_Silent_p.Q2487Q|MACF1_ENST00000539005.1_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													140	569					0	0	1	0	0	A	39799706	G	A	39799706	2	1	22	1	0	0	0	0	0	0	0	1	9190	1020	36	2		2	MACF1	1	39799706	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	702	39799706	209450915	464	2610											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.L3116I|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.L1519I|MACF1_ENST00000372915.3_Missense_Mutation_p.L3084I|MACF1_ENST00000539005.1_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													26	270					7.92952e-12	8.47903e-12	1	1	0	A	39801495	C	A	39801495	3	1	22	1	0	0	0	0	1	0	0	0	9190	913	32	2	9326	2	MACF1	1	39801495	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1789	39801495	209449126	465	2611											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361689.2_Missense_Mutation_p.L2033M|MACF1_ENST00000567887.1_Missense_Mutation_p.L4132M|MACF1_ENST00000545844.1_Missense_Mutation_p.L2033M|MACF1_ENST00000317713.7_Missense_Mutation_p.L2033M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000289893.4_Missense_Mutation_p.L2535M|MACF1_ENST00000372915.3_Missense_Mutation_p.L4100M|MACF1_ENST00000539005.1_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													27	200					9.39395e-14	1.01619e-13	1	1	0	A	39826503	C	A	39826503	3	1	22	1	0	0	0	0	1	0	0	0	9190	680	24	2	12418	2	MACF1	1	39826503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25008	39826503	209424118	466	2612											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361689.2_Missense_Mutation_p.L2057M|MACF1_ENST00000567887.1_Missense_Mutation_p.L4156M|MACF1_ENST00000545844.1_Missense_Mutation_p.L2057M|MACF1_ENST00000317713.7_Missense_Mutation_p.L2057M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000289893.4_Missense_Mutation_p.L2559M|MACF1_ENST00000372915.3_Missense_Mutation_p.L4124M|MACF1_ENST00000539005.1_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													25	203					7.88262e-20	8.81088e-20	1	1	0	A	39826575	C	A	39826575	3	1	22	1	0	0	0	0	1	0	0	0	9190	680	24	2	12490	2	MACF1	1	39826575	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72	39826575	209424046	467	2613											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361689.2_Missense_Mutation_p.V2657A|MACF1_ENST00000567887.1_Missense_Mutation_p.V4756A|MACF1_ENST00000545844.1_Missense_Mutation_p.V2657A|MACF1_ENST00000317713.7_Missense_Mutation_p.V2657A|MACF1_ENST00000289893.4_Missense_Mutation_p.V3159A|MACF1_ENST00000372915.3_Missense_Mutation_p.V4724A|MACF1_ENST00000539005.1_Missense_Mutation_p.V2636A			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													56	219					0	0	1	0	0	C	39851413	T	C	39851413	3	2	22	1	0	0	0	0	1	0	0	0	9190	1638	57	3	14327	3	MACF1	1	39851413	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24838	39851413	209399208	468	2614											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361689.2_Silent_p.E2672E|MACF1_ENST00000567887.1_Silent_p.E4771E|MACF1_ENST00000545844.1_Silent_p.E2672E|MACF1_ENST00000317713.7_Silent_p.E2672E|MACF1_ENST00000289893.4_Silent_p.E3174E|MACF1_ENST00000372915.3_Silent_p.E4739E|MACF1_ENST00000539005.1_Silent_p.E2651E			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													15	299					0	0	1	0	0	A	39851459	G	A	39851459	2	1	22	1	0	0	0	0	0	0	0	1	9190	962	34	2		2	MACF1	1	39851459	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46	39851459	209399162	469	2615											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361689.2_Missense_Mutation_p.L3472W|MACF1_ENST00000567887.1_Missense_Mutation_p.L5571W|MACF1_ENST00000545844.1_Missense_Mutation_p.L3472W|MACF1_ENST00000317713.7_Missense_Mutation_p.L3472W|MACF1_ENST00000289893.4_Missense_Mutation_p.L3974W|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron			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													15	235					0	0	1	0	0	G	39893757	T	G	39893757	3	3	22	1	0	0	0	0	1	0	0	0	9190	1821	63	3	16796	3	MACF1	1	39893757	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42298	39893757	209356864	470	2616											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361689.2_Missense_Mutation_p.T3700N|MACF1_ENST00000567887.1_Missense_Mutation_p.T5799N|MACF1_ENST00000545844.1_Missense_Mutation_p.T3700N|MACF1_ENST00000317713.7_Missense_Mutation_p.T3700N|MACF1_ENST00000289893.4_Missense_Mutation_p.T4202N|MACF1_ENST00000372915.3_Missense_Mutation_p.T5658N|MACF1_ENST00000539005.1_Missense_Mutation_p.T3570N			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													20	289					1.00905e-13	1.09121e-13	1	1	0	A	39896528	C	A	39896528	3	1	22	1	0	0	0	0	1	0	0	0	9190	565	20	2	17492	2	MACF1	1	39896528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2771	39896528	209354093	471	2617											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361689.2_Silent_p.I4016I|MACF1_ENST00000567887.1_Silent_p.I6112I|MACF1_ENST00000545844.1_Silent_p.I4016I|MACF1_ENST00000317713.7_Silent_p.I4016I|MACF1_ENST00000289893.4_Silent_p.I4518I|MACF1_ENST00000372915.3_Silent_p.I5974I|MACF1_ENST00000539005.1_Silent_p.I3886I			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													11	123					1.61879e-10	1.71755e-10	1	1	0	A	39904950	C	A	39904950	2	1	22	1	0	0	0	0	0	0	0	1	9190	845	30	2		2	MACF1	1	39904950	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8422	39904950	209345671	472	2618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361689.2_Silent_p.R4439R|MACF1_ENST00000567887.1_Silent_p.R6535R|MACF1_ENST00000545844.1_Silent_p.R4439R|MACF1_ENST00000317713.7_Silent_p.R4439R|MACF1_ENST00000289893.4_Silent_p.R4941R|MACF1_ENST00000372915.3_Silent_p.R6397R|MACF1_ENST00000539005.1_Silent_p.R4309R			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													29	219					0	0	1	0	0	G	39910396	A	G	39910396	2	3	22	1	0	0	0	0	0	0	0	1	9190	272	10	3		3	MACF1	1	39910396	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5446	39910396	209340225	473	2619											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361689.2_Missense_Mutation_p.R5079C|MACF1_ENST00000567887.1_Missense_Mutation_p.R7175C|MACF1_ENST00000545844.1_Missense_Mutation_p.R5079C|MACF1_ENST00000317713.7_Missense_Mutation_p.R5079C|MACF1_ENST00000289893.4_Missense_Mutation_p.R5581C|MACF1_ENST00000372915.3_Missense_Mutation_p.R7037C|MACF1_ENST00000539005.1_Missense_Mutation_p.R4949C			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													111	439					0	0	1	0	0	T	39926355	C	T	39926355	3	4	22	1	0	0	0	0	1	0	0	0	9190	768	27	1	21736	1	MACF1	1	39926355	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15959	39926355	209324266	474	2620											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361689.2_Missense_Mutation_p.S5272Y|MACF1_ENST00000567887.1_Missense_Mutation_p.S7397Y|MACF1_ENST00000545844.1_Missense_Mutation_p.S5272Y|MACF1_ENST00000317713.7_Missense_Mutation_p.S5272Y|MACF1_ENST00000289893.4_Missense_Mutation_p.S5780Y|MACF1_ENST00000372915.3_Missense_Mutation_p.S7230Y|MACF1_ENST00000539005.1_Missense_Mutation_p.S5142Y			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													7	293					2.7689e-08	2.89045e-08	1	1	0	A	39945590	C	A	39945590	3	1	22	1	0	0	0	0	1	0	0	0	9190	855	30	2	22354	2	MACF1	1	39945590	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19235	39945590	209305031	475	2621											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361689.2_Missense_Mutation_p.P5305S|MACF1_ENST00000567887.1_Missense_Mutation_p.P7467S|MACF1_ENST00000545844.1_Missense_Mutation_p.P5305S|MACF1_ENST00000317713.7_Missense_Mutation_p.P5305S|MACF1_ENST00000289893.4_Missense_Mutation_p.P5813S|MACF1_ENST00000372915.3_Missense_Mutation_p.P7263S|MACF1_ENST00000539005.1_Missense_Mutation_p.P5175S			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													42	465					0	0	1	0	0	T	39950279	C	T	39950279	3	4	22	1	0	0	0	0	1	0	0	0	9190	623	22	2	22456	2	MACF1	1	39950279	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4689	39950279	209300342	476	2622											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_016257.2	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													13	121					0	0	1	0	0	T	40150155	C	T	40150155	3	4	22	1	0	0	0	0	1	0	0	0	7372	652	23	1	466	1	HPCAL4	1	40150155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199876	40150155	209100466	477	2623											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PPIE_ENST00000372830.1_3'UTR|PPIE_ENST00000356511.2_3'UTR|BMP8B_ENST00000397360.2_Missense_Mutation_p.R328Q	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													52	499					0	0	1	0	0	T	40229424	C	T	40229424	3	4	22	1	0	0	0	0	1	0	0	0	1466	652	23	1	312	1	BMP8B	1	40229424	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79269	40229424	209021197	478	2624											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541099.1_Silent_p.L14L|TRIT1_ENST00000537223.1_Silent_p.L92L|TRIT1_ENST00000372818.1_Silent_p.L370L|TRIT1_ENST00000545233.1_Silent_p.L150L|TRIT1_ENST00000537440.1_Silent_p.L92L|TRIT1_ENST00000441669.2_Silent_p.L314L|TRIT1_ENST00000491865.1_5'UTR	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													35	309					6.29468e-14	6.81746e-14	1	1	0	A	40309819	C	A	40309819	2	1	22	1	0	0	0	0	0	0	0	1	16621	465	17	2		2	TRIT1	1	40309819	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80395	40309819	208940802	479	2625											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	174					7.53189e-24	8.58305e-24	1	1	0	A	40702892	C	A	40702892	3	1	22	1	0	0	0	0	1	0	0	0	13441	565	20	2	2548	2	RLF	1	40702892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	393073	40702892	208547729	480	2626											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	284					0	0	1	0	0	G	40716992	A	G	40716992	3	3	22	1	0	0	0	0	1	0	0	0	16056	391	14	3	281	3	TMCO2	1	40716992	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14100	40716992	208533629	481	2627											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													209	714					9.93019e-89	1.27394e-88	1	1	0	A	40735717	C	A	40735717	3	1	22	1	0	0	0	0	1	0	0	0	17756	913	32	2	563	2	ZMPSTE24	1	40735717	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18725	40735717	208514904	482	2628											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	383					6.27289e-28	7.28045e-28	1	1	0	A	40747106	C	A	40747106	4	1	22	1	0	0	0	0	0	1	0	0	17756	576	20	2	887	2	ZMPSTE24	1	40747106	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11389	40747106	208503515	483	2629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	330					0	0	1	0	0	A	40874336	G	A	40874336	2	1	22	1	0	0	0	0	0	0	0	1	14821	933	33	2		2	SMAP2	1	40874336	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127230	40874336	208376285	484	2630											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440226.3_Missense_Mutation_p.T170M|NFYC_ENST00000372653.1_Missense_Mutation_p.T170M|NFYC_ENST00000425457.2_Missense_Mutation_p.T170M|NFYC_ENST00000427410.2_Missense_Mutation_p.T132M|NFYC_ENST00000372654.1_Missense_Mutation_p.T170M|NFYC_ENST00000447388.3_Missense_Mutation_p.T170M|NFYC_ENST00000308733.5_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													9	194					0	0	1	0	0	T	41223914	C	T	41223914	3	4	22	1	0	0	0	0	1	0	0	0	10438	536	19	1	527	1	NFYC	1	41223914	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	349578	41223914	208026707	485	2631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	63					0	0	1	0	0	G	41284339	A	G	41284339	3	3	22	1	0	0	0	0	1	0	0	0	8129	391	14	3	709	3	KCNQ4	1	41284339	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60425	41284339	207966282	486	2632											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397197.2_Intron|SLFNL1_ENST00000372611.1_Missense_Mutation_p.A301T|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													10	51					0	0	1	0	0	T	41482929	C	T	41482929	3	4	22	1	0	0	0	0	1	0	0	0	14792	768	27	1	153	1	SLFNL1	1	41482929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198590	41482929	207767692	487	2633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000247584.5_Missense_Mutation_p.R2171W|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R2170W	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													11	324					0	0	1	0	0	A	41976832	G	A	41976832	3	1	22	1	0	0	0	0	1	0	0	0	7229	1115	39	1	713	1	HIVEP3	1	41976832	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	493903	41976832	207273789	488	2634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000247584.5_Silent_p.N1740N|HIVEP3_ENST00000429157.2_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													38	269					0	0	1	0	0	A	41990569	G	A	41990569	2	1	22	1	0	0	0	0	0	0	0	1	7229	1136	40	1		1	HIVEP3	1	41990569	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13737	41990569	207260052	489	2635											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000247584.5_Missense_Mutation_p.P1513H|HIVEP3_ENST00000429157.2_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													65	205					8.4772e-36	1.0133e-35	1	1	0	T	42045931	G	T	42045931	3	4	22	1	0	0	0	0	1	0	0	0	7229	1000	35	2	2706	2	HIVEP3	1	42045931	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55362	42045931	207204690	490	2636											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000247584.5_Missense_Mutation_p.G635D|HIVEP3_ENST00000429157.2_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													112	540					0	0	1	0	0	T	42048565	C	T	42048565	3	4	22	1	0	0	0	0	1	0	0	0	7229	507	18	2	5340	2	HIVEP3	1	42048565	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2634	42048565	207202056	491	2637											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000247584.5_Missense_Mutation_p.R367H|HIVEP3_ENST00000429157.2_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													90	337					0	0	1	0	0	T	42049369	C	T	42049369	3	4	22	1	0	0	0	0	1	0	0	0	7229	768	27	1	6144	1	HIVEP3	1	42049369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	804	42049369	207201252	492	2638											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372573.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000545068.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000361776.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000361346.1_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													43	398					5.20837e-25	5.9682e-25	1	1	0	T	42744089	G	T	42744089	3	4	22	1	0	0	0	0	1	0	0	0	6047	1029	36	2	1613	2	FOXJ3	1	42744089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	694720	42744089	206506532	493	2639											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													150	624					2.88375e-75	3.67652e-75	1	1	0	A	42875661	C	A	42875661	3	1	22	1	0	0	0	0	1	0	0	0	13417	797	28	2	502	2	RIMKLA	1	42875661	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131572	42875661	206374960	494	2640											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000296388.5_Missense_Mutation_p.K662N|LEPRE1_ENST00000397054.3_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)	45	323					6.14515e-18	6.80267e-18	1	1	0	A	43213012	C	A	43213012	3	1	22	1	0	0	0	0	1	0	0	0	8768	680	24	2	251	2	LEPRE1	1	43213012	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	337351	43213012	206037609	495	2641											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000296388.5_Missense_Mutation_p.T638A|LEPRE1_ENST00000397054.3_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)	196	701					0	0	1	0	0	C	43213396	T	C	43213396	3	2	22	1	0	0	0	0	1	0	0	0	8768	1667	58	3	329	3	LEPRE1	1	43213396	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	384	43213396	206037225	496	2642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000487556.1_Intron|ERMAP_ENST00000372514.3_Missense_Mutation_p.R73H|ERMAP_ENST00000328249.3_5'UTR	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													25	83					0	0	1	0	0	A	43296571	G	A	43296571	3	1	22	1	0	0	0	0	1	0	0	0	5262	1087	38	1	224	1	ERMAP	1	43296571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83175	43296571	205954050	497	2643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	563					0	0	1	0	0	T	43394659	C	T	43394659	3	4	22	1	0	0	0	0	1	0	0	0	14593	681	24	2	472	2	SLC2A1	1	43394659	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98088	43394659	205855962	498	2644											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	715					0	0	1	0	0	T	43395385	C	T	43395385	3	4	22	1	0	0	0	0	1	0	0	0	14593	652	23	1	752	1	SLC2A1	1	43395385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	726	43395385	205855236	499	2645											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	150					9.7654e-05	9.93505e-05	1	1	0	A	43396482	C	A	43396482	3	1	22	1	0	0	0	0	1	0	0	0	14593	623	22	2	1175	2	SLC2A1	1	43396482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1097	43396482	205854139	500	2646											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	169					3.27435e-08	3.41456e-08	1	1	0	A	43738921	C	A	43738921	4	1	22	1	0	0	0	0	0	1	0	0	16097	747	26	2	530	2	TMEM125	1	43738921	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	342439	43738921	205511700	501	2647											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	318					8.58068e-18	9.49213e-18	1	1	0	A	43748499	C	A	43748499	3	1	22	1	0	0	0	0	1	0	0	0	2043	739	26	2	46	2	C1orf210	1	43748499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9578	43748499	205502122	502	2648											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	260					0	0	1	0	0	T	43774659	C	T	43774659	3	4	22	1	0	0	0	0	1	0	0	0	15953	643	23	1	1075	1	TIE1	1	43774659	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26160	43774659	205475962	503	2649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	485					0	0	1	0	0	T	43777353	C	T	43777353	3	4	22	1	0	0	0	0	1	0	0	0	15953	739	26	2	1383	2	TIE1	1	43777353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2694	43777353	205473268	504	2650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.L402M	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													21	150					1.28384e-07	1.33406e-07	1	1	0	A	43779499	C	A	43779499	3	1	22	1	0	0	0	0	1	0	0	0	15953	680	24	2	2323	2	TIE1	1	43779499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2146	43779499	205471122	505	2651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MED8_ENST00000290663.6_Missense_Mutation_p.P69L|MED8_ENST00000372455.4_5'UTR|RP1-92O14.6_ENST00000436713.1_RNA	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													19	272					0	0	1	0	0	A	43853238	G	A	43853238	3	1	22	1	0	0	0	0	1	0	0	0	9503	1116	39	1	727	1	MED8	1	43853238	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73739	43853238	205397383	506	2652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	510					0	0	1	0	0	A	44056764	G	A	44056764	2	1	22	1	0	0	0	0	0	0	0	1	12853	1103	39	1		1	PTPRF	1	44056764	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203526	44056764	205193857	507	2653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	79					0	0	1	0	0	A	44056913	G	A	44056913	3	1	22	1	0	0	0	0	1	0	0	0	12853	1087	38	1	1246	1	PTPRF	1	44056913	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149	44056913	205193708	508	2654											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422171.2_Silent_p.S431S|PTPRF_ENST00000372414.3_Silent_p.S1083S|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Silent_p.S1074S	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													43	389					0	0	1	0	0	T	44070974	C	T	44070974	2	4	22	1	0	0	0	0	0	0	0	1	12853	767	27	1		1	PTPRF	1	44070974	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14061	44070974	205179647	509	2655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422171.2_Silent_p.P452P|PTPRF_ENST00000372414.3_Silent_p.P1104P|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Silent_p.P1095P	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													34	289					0	0	1	0	0	A	44071037	G	A	44071037	2	1	22	1	0	0	0	0	0	0	0	1	12853	1074	38	1		1	PTPRF	1	44071037	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63	44071037	205179584	510	2656											
PTPRF	5792	broad.mit.edu	37	chr1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-													gagcaaggcggagaggagcaGcggcggcggcggcggcaggc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cag>ca	p.QR1173del	PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1173					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)				GAGAGGAGCAGCGGCGGCGGCGG	0.631													7	719	---	---	---	---						-	44071948	GCG	-	44071946	7	5	22	1	0	1	0	1	0	0	0	0	12853	962	34	0	3589	0	PTPRF	1	44071946	In_Frame_Del	DEL	GCG	TCGA-IB-7651-01A-11D-2154-08	909	44071946	205178675	511	2657											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422171.2_Missense_Mutation_p.E1001K|PTPRF_ENST00000372414.3_Missense_Mutation_p.E1642K|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.E1633K	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													39	248					0	0	1	0	0	A	44085236	G	A	44085236	3	1	22	1	0	0	0	0	1	0	0	0	12853	1059	37	1	5026	1	PTPRF	1	44085236	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13290	44085236	205165385	512	2658											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	344					0	0	1	0	0	A	44149434	G	A	44149434	3	1	22	1	0	0	0	0	1	0	0	0	8172	1087	38	1	1856	1	KDM4A	1	44149434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64198	44149434	205101187	513	2659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	335					2.59497e-14	2.81812e-14	1	1	0	T	44163605	G	T	44163605	3	4	22	1	0	0	0	0	1	0	0	0	8172	1000	35	2	2832	2	KDM4A	1	44163605	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14171	44163605	205087016	514	2660											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	235					0	0	1	0	0	C	44163674	A	C	44163674	3	2	22	1	0	0	0	0	1	0	0	0	8172	304	11	3	2901	3	KDM4A	1	44163674	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69	44163674	205086947	515	2661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	971					0	0	1	0	0	A	44425977	G	A	44425977	4	1	22	1	0	0	0	0	0	1	0	0	7838	1270	44	2	2131	2	IPO13	1	44425977	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262303	44425977	204824644	516	2662											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	356					1.96642e-18	2.182e-18	1	1	0	T	44595120	G	T	44595120	3	4	22	1	0	0	0	0	1	0	0	0	8388	962	34	2	183	2	KLF17	1	44595120	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169143	44595120	204655501	517	2663											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	318					0	0	1	0	0	A	44595709	G	A	44595709	3	1	22	1	0	0	0	0	1	0	0	0	8388	1117	39	1	772	1	KLF17	1	44595709	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	589	44595709	204654912	518	2664											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000488433.1_3'UTR|DMAP1_ENST00000361745.6_Silent_p.A220A|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)	85	293					0	0	1	0	0	C	44684367	T	C	44684367	2	2	22	1	0	0	0	0	0	0	0	1	4604	1567	55	3		3	DMAP1	1	44684367	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88658	44684367	204566254	519	2665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443020.2_5'UTR|RNF220_ENST00000372247.2_Nonsense_Mutation_p.C227*|RNF220_ENST00000361799.2_Nonsense_Mutation_p.C227*			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													54	493					5.22555e-25	5.98653e-25	1	1	0	A	45079892	C	A	45079892	4	1	22	1	0	0	0	0	0	1	0	0	13535	747	26	2	687	2	RNF220	1	45079892	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	395525	45079892	204170729	520	2666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RNF220_ENST00000480686.1_3'UTR|RNF220_ENST00000443020.2_Silent_p.S265S|RNF220_ENST00000372247.2_Silent_p.S478S|RNF220_ENST00000361799.2_Silent_p.S478S|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron			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													22	148					0	0	1	0	0	T	45111149	C	T	45111149	2	4	22	1	0	0	0	0	0	0	0	1	13535	767	27	1		1	RNF220	1	45111149	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31257	45111149	204139472	521	2667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	473					0	0	1	0	0	A	45253349	G	A	45253349	3	1	22	1	0	0	0	0	1	0	0	0	1405	1087	38	1	1428	1	BEST4	1	45253349	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	142200	45253349	203997272	522	2668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	343					0	0	1	0	0	A	45268516	G	A	45268516	2	1	22	1	0	0	0	0	0	0	0	1	12145	1335	47	2		2	PLK3	1	45268516	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15167	45268516	203982105	523	2669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	324					0	0	1	0	0	A	45270982	G	A	45270982	2	1	22	1	0	0	0	0	0	0	0	1	12145	1074	38	1		1	PLK3	1	45270982	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2466	45270982	203979639	524	2670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	330					0	0	1	0	0	A	45271006	G	A	45271006	2	1	22	1	0	0	0	0	0	0	0	1	12145	933	33	2		2	PLK3	1	45271006	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24	45271006	203979615	525	2671											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	118					0	0	1	0	0	T	45271752	C	T	45271752	3	4	22	1	0	0	0	0	1	0	0	0	15780	884	31	1	80	1	TCTEX1D4	1	45271752	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	746	45271752	203978869	526	2672											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				103	330					2.6418e-55	3.30104e-55	1	1	0	A	45292982	C	A	45292982	5	1	22	1	0	0	0	0	0	0	1	0	12780	695	24	2	1288	2	PTCH2	1	45292982	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21230	45292982	203957639	527	2673											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				49	455					3.86236e-30	4.52529e-30	1	1	0	T	45293758	G	T	45293758	3	4	22	1	0	0	0	0	1	0	0	0	12780	1020	36	2	1852	2	PTCH2	1	45293758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	776	45293758	203956863	528	2674											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				79	347					0	0	1	0	0	A	45307689	G	A	45307689	3	1	22	1	0	0	0	0	1	0	0	0	12780	971	34	2	3620	2	PTCH2	1	45307689	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13931	45307689	203942932	529	2675											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	472					0	0	1	0	0	A	45340395	G	A	45340395	3	1	22	1	0	0	0	0	1	0	0	0	5028	1029	36	2	250	2	EIF2B3	1	45340395	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32706	45340395	203910226	530	2676											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372168.3_Nonsense_Mutation_p.E320*|HECTD3_ENST00000486132.1_5'UTR	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													31	476					5.45727e-16	5.98072e-16	1	1	0	A	45470286	C	A	45470286	4	1	22	1	0	0	0	0	0	1	0	0	7082	864	30	2	481	2	HECTD3	1	45470286	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129891	45470286	203780335	531	2677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	98	313					0	0	1	0	0	T	45484670	C	T	45484670	3	4	22	1	0	0	0	0	1	0	0	0	18284	768	27	1	547	1	ZSWIM5	1	45484670	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14384	45484670	203765951	532	2678											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	209					1.02788e-11	1.09837e-11	1	1	0	T	45504624	G	T	45504624	2	4	22	1	0	0	0	0	0	0	0	1	18284	958	34	2		2	ZSWIM5	1	45504624	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19954	45504624	203745997	533	2679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	577					0	0	1	0	0	T	45553598	C	T	45553598	3	4	22	1	0	0	0	0	1	0	0	0	18284	739	26	2	2702	2	ZSWIM5	1	45553598	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48974	45553598	203697023	534	2680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	281					6.75472e-32	7.9656e-32	1	1	0	T	45806997	G	T	45806997	3	4	22	1	0	0	0	0	1	0	0	0	16409	1000	35	2	228	2	TOE1	1	45806997	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	253399	45806997	203443624	535	2681											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538496.1_Missense_Mutation_p.R291H|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.R345H|TESK2_ENST00000341771.6_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													26	273					0	0	1	0	0	T	45811107	C	T	45811107	3	4	22	1	0	0	0	0	1	0	0	0	15827	536	19	1	598	1	TESK2	1	45811107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4110	45811107	203439514	536	2682											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372079.1_Missense_Mutation_p.K83N|PRDX1_ENST00000319248.8_Missense_Mutation_p.K185N	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													210	983					1.51328e-59	1.9009e-59	1	1	0	A	45977046	C	A	45977046	3	1	22	1	0	0	0	0	1	0	0	0	12516	796	28	2	48	2	PRDX1	1	45977046	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	165939	45977046	203273575	537	2683											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537798.1_Silent_p.V719V|NASP_ENST00000351223.3_Silent_p.V444V|NASP_ENST00000402363.3_Silent_p.V785V|NASP_ENST00000372052.4_Silent_p.V417V|NASP_ENST00000530073.1_3'UTR	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													10	38					0	0	1	0	0	C	46083795	T	C	46083795	2	2	22	1	0	0	0	0	0	0	0	1	10220	1799	63	3		3	NASP	1	46083795	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	106749	46083795	203166826	538	2684											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347													15	323	---	---	---	---						-	46184898	AC	-	46184897	7	5	22	1	0	1	0	1	0	0	0	0	7844	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-IB-7651-01A-11D-2154-08	101102	46184897	203065724	539	2685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	311					0	0	1	0	0	A	46206618	G	A	46206618	4	1	22	1	0	0	0	0	0	1	0	0	7844	1066	37	1	1205	1	IPP	1	46206618	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21721	46206618	203044003	540	2686											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|MAST2_ENST00000372008.1_Missense_Mutation_p.Y476H	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													38	193					0	0	1	0	0	C	46489643	T	C	46489643	3	2	22	1	0	0	0	0	1	0	0	0	9375	1638	57	3	1829	3	MAST2	1	46489643	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	283025	46489643	202760978	541	2687											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|MAST2_ENST00000372008.1_Intron	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													63	169					8.81991e-31	1.03612e-30	1	1	0	T	46497062	G	T	46497062	5	4	22	1	0	0	0	0	0	0	1	0	9375	985	34	2	3086	2	MAST2	1	46497062	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7419	46497062	202753559	542	2688											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|MAST2_ENST00000372008.1_Intron	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													8	214					0	0	1	0	0	A	46500837	G	A	46500837	3	1	22	1	0	0	0	0	1	0	0	0	9375	1145	40	1	4610	1	MAST2	1	46500837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3775	46500837	202749784	543	2689											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000488808.1_5'UTR|PIK3R3_ENST00000420542.1_Silent_p.E417E|PIK3R3_ENST00000372006.1_Silent_p.E417E|PIK3R3_ENST00000354242.4_Silent_p.E358E|PIK3R3_ENST00000540385.1_Silent_p.E463E|PIK3R3_ENST00000340332.6_Silent_p.E322E|PIK3R3_ENST00000423209.1_Silent_p.E358E	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													30	139					0	0	1	0	0	T	46509480	C	T	46509480	2	4	22	1	0	0	0	0	0	0	0	1	11968	796	28	2		2	PIK3R3	1	46509480	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8643	46509480	202741141	544	2690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420542.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000372006.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000354242.4_Missense_Mutation_p.E217K|PIK3R3_ENST00000540385.1_Missense_Mutation_p.E263K|PIK3R3_ENST00000340332.6_Missense_Mutation_p.E181K|PIK3R3_ENST00000423209.1_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													88	314					0	0	1	0	0	T	46527716	C	T	46527716	3	4	22	1	0	0	0	0	1	0	0	0	11968	922	32	2	756	2	PIK3R3	1	46527716	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18236	46527716	202722905	545	2691											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371984.3_Missense_Mutation_p.H546R|POMGNT1_ENST00000535522.1_Missense_Mutation_p.H524R|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371986.3_Missense_Mutation_p.H546R	NM_001243766.1	NP_001230695.1	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													131	1275					0	0	1	0	0	C	46656157	T	C	46656157	3	2	22	1	0	0	0	0	1	0	0	0	12291	1696	59	3	361	3	POMGNT1	1	46656157	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	128441	46656157	202594464	546	2692											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46657980C>A	ENST00000371992.1	-	16	2063	c.1413_splice	c.e16+1	p.K471_splice	POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000371984.3_Splice_Site_p.K471_splice|POMGNT1_ENST00000535522.1_Splice_Site_p.K449_splice|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371986.3_Splice_Site_p.K471_splice	NM_001243766.1	NP_001230695.1	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													40	316					2.95478e-19	3.29235e-19	1	1	0	A	46657980	C	A	46657980	5	1	22	1	0	0	0	0	0	0	1	0	12291	695	24	2	597	2	POMGNT1	1	46657980	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1823	46657980	202592641	547	2693											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46663544C>A	ENST00000396420.3	-	2	587		c.e2-1		POMGNT1_ENST00000371984.3_Splice_Site|POMGNT1_ENST00000371992.1_Splice_Site|POMGNT1_ENST00000371986.3_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													45	181					3.76604e-16	4.1305e-16	1	1	0	A	46663544	C	A	46663544	5	1	22	1	0	0	0	0	0	0	1	0	12291	927	32	2		2	POMGNT1	1	46663544	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5564	46663544	202587077	548	2694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					19	178					0	0	1	0	0	G	46714235	T	G	46714235	3	3	22	1	0	0	0	0	1	0	0	0	13045	1667	58	3	61	3	RAD54L	1	46714235	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	50691	46714235	202536386	549	2695											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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					6	281					1.26484e-09	1.33308e-09	1	1	0	T	46726956	G	T	46726956	3	4	22	1	0	0	0	0	1	0	0	0	13045	971	34	2	820	2	RAD54L	1	46726956	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12721	46726956	202523665	550	2696											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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					81	277					7.63117e-38	9.17446e-38	1	1	0	A	46733150	C	A	46733150	3	1	22	1	0	0	0	0	1	0	0	0	13045	913	32	2	945	2	RAD54L	1	46733150	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6194	46733150	202517471	551	2697											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RAD54L_ENST00000488942.1_3'UTR	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					16	96					0	0	1	0	0	T	46739361	C	T	46739361	2	4	22	1	0	0	0	0	0	0	0	1	13045	796	28	2		2	RAD54L	1	46739361	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6211	46739361	202511260	552	2698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RAD54L_ENST00000488942.1_3'UTR	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					28	106					0	0	1	0	0	T	46743903	C	T	46743903	2	4	22	1	0	0	0	0	0	0	0	1	13045	816	29	2		2	RAD54L	1	46743903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4542	46743903	202506718	553	2699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536062.1_Missense_Mutation_p.A245D|NSUN4_ENST00000537428.1_Missense_Mutation_p.A245D|NSUN4_ENST00000498008.1_3'UTR	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													36	301					6.53348e-20	7.30415e-20	1	1	0	A	46827244	C	A	46827244	3	1	22	1	0	0	0	0	1	0	0	0	10728	797	28	2	903	2	NSUN4	1	46827244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83341	46827244	202423377	554	2700											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536062.1_Missense_Mutation_p.S284I|NSUN4_ENST00000537428.1_Missense_Mutation_p.S284I|NSUN4_ENST00000498008.1_3'UTR	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													118	465					2.32265e-44	2.8419e-44	1	1	0	T	46827361	G	T	46827361	3	4	22	1	0	0	0	0	1	0	0	0	10728	971	34	2	1020	2	NSUN4	1	46827361	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117	46827361	202423260	555	2701											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536062.1_Missense_Mutation_p.F323S|NSUN4_ENST00000537428.1_Missense_Mutation_p.F323S|NSUN4_ENST00000498008.1_3'UTR	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													44	193					0	0	1	0	0	C	46827478	T	C	46827478	3	2	22	1	0	0	0	0	1	0	0	0	10728	1841	64	3	1137	3	NSUN4	1	46827478	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	117	46827478	202423143	556	2702											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	101					0	0	1	0	0	G	46976890	A	G	46976890	3	3	22	1	0	0	0	0	1	0	0	0	4606	14	1	3	642	3	DMBX1	1	46976890	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	149412	46976890	202273731	557	2703											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	432					0	0	1	0	0	A	47016857	G	A	47016857	3	1	22	1	0	0	0	0	1	0	0	0	8468	1116	39	1	286	1	KNCN	1	47016857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39967	47016857	202233764	558	2704											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371923.4_Silent_p.K176K|CYP4B1_ENST00000452782.2_Silent_p.K13K|CYP4B1_ENST00000371919.4_Silent_p.K161K			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													25	222					0	0	1	0	0	A	47279186	G	A	47279186	2	1	22	1	0	0	0	0	0	0	0	1	4208	1020	36	2		2	CYP4B1	1	47279186	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262329	47279186	201971435	559	2705											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371923.4_Silent_p.A188A|CYP4B1_ENST00000452782.2_Silent_p.A25A|CYP4B1_ENST00000371919.4_Silent_p.A173A			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													54	233					0	0	1	0	0	A	47279222	G	A	47279222	2	1	22	1	0	0	0	0	0	0	0	1	4208	1074	38	1		1	CYP4B1	1	47279222	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36	47279222	201971399	560	2706											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	450					0	0	1	0	0	T	47495763	C	T	47495763	2	4	22	1	0	0	0	0	0	0	0	1	4216	903	32	2		2	CYP4X1	1	47495763	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	216541	47495763	201754858	561	2707											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	208					0	0	1	0	0	G	47533229	T	G	47533229	3	3	22	1	0	0	0	0	1	0	0	0	4217	1667	58	3	69	3	CYP4Z1	1	47533229	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37466	47533229	201717392	562	2708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000294337.3_Missense_Mutation_p.P387S|CYP4A22_ENST00000371890.3_Missense_Mutation_p.P289S|CYP4A22_ENST00000485117.1_3'UTR|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													57	166					0	0	1	0	0	T	47610579	C	T	47610579	3	4	22	1	0	0	0	0	1	0	0	0	4207	739	26	2	1193	2	CYP4A22	1	47610579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77350	47610579	201640042	563	2709											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371884.2_Silent_p.A275A|TAL1_ENST00000459729.1_5'UTR|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								42	134					0	0	1	0	0	T	47685563	C	T	47685563	2	4	22	1	0	0	0	0	0	0	0	1	15598	755	27	1		1	TAL1	1	47685563	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74984	47685563	201565058	564	2710											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000243182.6_Missense_Mutation_p.S556Y|STIL_ENST00000371877.3_Missense_Mutation_p.S556Y|STIL_ENST00000396221.2_Missense_Mutation_p.S556Y			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													166	545					4.35918e-57	5.4578e-57	1	1	0	T	47746463	G	T	47746463	3	4	22	1	0	0	0	0	1	0	0	0	15338	1174	41	2	2223	2	STIL	1	47746463	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60900	47746463	201504158	565	2711											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000243182.6_Silent_p.L355L|STIL_ENST00000371877.3_Silent_p.L355L|STIL_ENST00000396221.2_Silent_p.L355L			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													22	115					0	0	1	0	0	A	47753293	G	A	47753293	2	1	22	1	0	0	0	0	0	0	0	1	15338	1020	36	2		2	STIL	1	47753293	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6830	47753293	201497328	566	2712											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000243182.6_Missense_Mutation_p.S272I|STIL_ENST00000371877.3_Missense_Mutation_p.S272I|STIL_ENST00000396221.2_Missense_Mutation_p.S272I			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													93	304					7.47877e-49	9.23912e-49	1	1	0	A	47759187	C	A	47759187	3	1	22	1	0	0	0	0	1	0	0	0	15338	565	20	2	3091	2	STIL	1	47759187	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5894	47759187	201491434	567	2713											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000243182.6_Missense_Mutation_p.S76L|STIL_ENST00000371877.3_Missense_Mutation_p.S76L|STIL_ENST00000396221.2_Missense_Mutation_p.S76L			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													11	242					0	0	1	0	0	A	47767944	G	A	47767944	3	1	22	1	0	0	0	0	1	0	0	0	15338	1059	37	1	3695	1	STIL	1	47767944	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8757	47767944	201482677	568	2714											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	503					3.61411e-23	4.10475e-23	1	1	0	T	47904305	G	T	47904305	3	4	22	1	0	0	0	0	1	0	0	0	6030	933	33	2	500	2	FOXD2	1	47904305	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136361	47904305	201346316	569	2715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000420136.2_Missense_Mutation_p.V119I|SLC5A9_ENST00000533824.1_Missense_Mutation_p.V147I	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													27	253					0	0	1	0	0	A	48695003	G	A	48695003	3	1	22	1	0	0	0	0	1	0	0	0	14727	1145	40	1	469	1	SLC5A9	1	48695003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	790698	48695003	200555618	570	2716											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	671					0	0	1	0	0	A	48705156	G	A	48705156	3	1	22	1	0	0	0	0	1	0	0	0	14727	1319	46	2	1749	2	SLC5A9	1	48705156	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10153	48705156	200545465	571	2717											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:49052677G>T	ENST00000371839.1	-	11	1382	c.1267_splice	c.e11+1	p.A422_splice	AGBL4_ENST00000334103.7_Splice_Site_p.A155_splice	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													4	55					0.00909568	0.00914726	1	1	0	T	49052677	G	T	49052677	5	4	22	1	0	0	0	0	0	0	1	0	374	1014	35	2	261	2	AGBL4	1	49052677	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	347521	49052677	200197944	572	2718											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50663102C>A	ENST00000371824.1	+	6	993	c.734_splice	c.e6-1	p.L246_splice	ELAVL4_ENST00000357083.4_Splice_Site_p.L263_splice|ELAVL4_ENST00000371827.1_Splice_Site_p.L246_splice|ELAVL4_ENST00000371819.1_Splice_Site_p.L251_splice|ELAVL4_ENST00000371823.4_Splice_Site_p.L246_splice|ELAVL4_ENST00000371821.1_Splice_Site_p.L251_splice|ELAVL4_ENST00000448907.2_Splice_Site_p.L249_splice			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													49	444					6.31075e-24	7.19376e-24	1	1	0	A	50663102	C	A	50663102	5	1	22	1	0	0	0	0	0	0	1	0	5080	811	28	2	857	2	ELAVL4	1	50663102	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1610425	50663102	198587519	573	2719											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	98					0	0	1	0	0	T	50884924	C	T	50884924	3	4	22	1	0	0	0	0	1	0	0	0	4617	893	31	1	590	1	DMRTA2	1	50884924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221822	50884924	198365697	574	2720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	81					4.36969e-10	4.6211e-10	1	1	0	T	50885223	G	T	50885223	3	4	22	1	0	0	0	0	1	0	0	0	4617	942	33	2	889	2	DMRTA2	1	50885223	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299	50885223	198365398	575	2721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	48					0	0	1	0	0	A	50885340	G	A	50885340	3	1	22	1	0	0	0	0	1	0	0	0	4617	1116	39	1	1006	1	DMRTA2	1	50885340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117	50885340	198365281	576	2722											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	293					0	0	1	0	0	A	50941256	G	A	50941256	2	1	22	1	0	0	0	0	0	0	0	1	5400	1074	38	1		1	FAF1	1	50941256	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55916	50941256	198309365	577	2723											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371778.4_Missense_Mutation_p.H431Q|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000545823.1_Missense_Mutation_p.H189Q	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													7	108					1.06961e-07	1.11297e-07	1	1	0	T	51005376	G	T	51005376	3	4	22	1	0	0	0	0	1	0	0	0	5400	1020	36	2	683	2	FAF1	1	51005376	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64120	51005376	198245245	578	2724											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	292					0	0	1	0	0	T	51736946	C	T	51736946	2	4	22	1	0	0	0	0	0	0	0	1	13476	718	25	2		2	RNF11	1	51736946	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	731570	51736946	197513675	579	2725											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								47	351					0	0	1	0	0	A	51913785	G	A	51913785	3	1	22	1	0	0	0	0	1	0	0	0	5220	1319	46	2	2272	2	EPS15	1	51913785	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	176839	51913785	197336836	580	2726											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								7	399					0	0	1	0	0	G	51937366	T	G	51937366	3	3	22	1	0	0	0	0	1	0	0	0	5220	1841	64	3	2667	3	EPS15	1	51937366	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	23581	51937366	197313255	581	2727											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361556.5_Missense_Mutation_p.R200H|OSBPL9_ENST00000462759.1_Missense_Mutation_p.R132H|OSBPL9_ENST00000435686.2_Missense_Mutation_p.R145H|OSBPL9_ENST00000428468.1_Missense_Mutation_p.R310H|OSBPL9_ENST00000486942.1_Missense_Mutation_p.R132H|OSBPL9_ENST00000531828.1_Missense_Mutation_p.R145H|OSBPL9_ENST00000530544.1_Missense_Mutation_p.R229H|OSBPL9_ENST00000337809.4_Missense_Mutation_p.R315H|OSBPL9_ENST00000371714.1_Missense_Mutation_p.R297H|OSBPL9_ENST00000453295.1_Missense_Mutation_p.R293H|OSBPL9_ENST00000447887.1_Missense_Mutation_p.R320H	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													25	269					0	0	1	0	0	A	52231644	G	A	52231644	3	1	22	1	0	0	0	0	1	0	0	0	11331	1087	38	1	1079	1	OSBPL9	1	52231644	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294278	52231644	197018977	582	2728											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361556.5_Missense_Mutation_p.V210I|OSBPL9_ENST00000462759.1_Missense_Mutation_p.V142I|OSBPL9_ENST00000435686.2_Missense_Mutation_p.V155I|OSBPL9_ENST00000428468.1_Missense_Mutation_p.V320I|OSBPL9_ENST00000486942.1_Missense_Mutation_p.V142I|OSBPL9_ENST00000531828.1_Missense_Mutation_p.V155I|OSBPL9_ENST00000530544.1_Missense_Mutation_p.V239I|OSBPL9_ENST00000337809.4_Missense_Mutation_p.V325I|OSBPL9_ENST00000371714.1_Missense_Mutation_p.V307I|OSBPL9_ENST00000453295.1_Missense_Mutation_p.V303I|OSBPL9_ENST00000447887.1_Missense_Mutation_p.V330I	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													40	141					0	0	1	0	0	A	52237761	G	A	52237761	3	1	22	1	0	0	0	0	1	0	0	0	11331	1029	36	2	1112	2	OSBPL9	1	52237761	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6117	52237761	197012860	583	2729											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	358					0	0	1	0	0	G	52254946	T	G	52254946	3	3	22	1	0	0	0	0	1	0	0	0	10693	1725	60	3	41	3	NRD1	1	52254946	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17185	52254946	196995675	584	2730											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544028.1_Missense_Mutation_p.R233I|NRD1_ENST00000539524.1_Missense_Mutation_p.R301I|NRD1_ENST00000485608.1_5'UTR	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													20	256					7.87624e-14	8.52853e-14	1	1	0	A	52289401	C	A	52289401	3	1	22	1	0	0	0	0	1	0	0	0	10693	913	32	2	2461	2	NRD1	1	52289401	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34455	52289401	196961220	585	2731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544028.1_Missense_Mutation_p.G129C|NRD1_ENST00000539524.1_Missense_Mutation_p.G197C|NRD1_ENST00000485608.1_5'UTR	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													89	440					7.28744e-38	8.7633e-38	1	1	0	A	52299774	C	A	52299774	3	1	22	1	0	0	0	0	1	0	0	0	10693	623	22	2	2786	2	NRD1	1	52299774	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10373	52299774	196950847	586	2732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544028.1_Intron|NRD1_ENST00000539524.1_Splice_Site|NRD1_ENST00000485608.1_Splice_Site	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													22	121					2.70639e-06	2.78742e-06	1	1	0	A	52302111	C	A	52302111	5	1	22	1	0	0	0	0	0	0	1	0	10693	695	24	2	3015	2	NRD1	1	52302111	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2337	52302111	196948510	587	2733											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TXNDC12_ENST00000472624.1_Intron|RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron	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													14	168					0	0	1	0	0	G	52499330	A	G	52499330	3	3	22	1	0	0	0	0	1	0	0	0	8623	159	6	3	964	3	KTI12	1	52499330	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	197219	52499330	196751291	588	2734											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361625.1_Missense_Mutation_p.E210D|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E210D	NM_004799.2	NP_004790.2	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													91	361					4.05715e-38	4.88277e-38	1	1	0	T	52703719	G	T	52703719	3	4	22	1	0	0	0	0	1	0	0	0	17729	933	33	2	636	2	ZFYVE9	1	52703719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	204389	52703719	196546902	589	2735											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361625.1_Missense_Mutation_p.T221P|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.T221P	NM_004799.2	NP_004790.2	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													58	486					0	0	1	0	0	C	52703750	A	C	52703750	3	2	22	1	0	0	0	0	1	0	0	0	17729	43	2	3	667	3	ZFYVE9	1	52703750	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31	52703750	196546871	590	2736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000284376.3_Silent_p.P480P|CC2D1B_ENST00000438831.1_5'UTR|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													24	285					0	0	1	0	0	T	52824024	C	T	52824024	2	4	22	1	0	0	0	0	0	0	0	1	2745	639	23	1		1	CC2D1B	1	52824024	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120274	52824024	196426597	591	2737											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000284376.3_Missense_Mutation_p.V366M|CC2D1B_ENST00000438831.1_De_novo_Start_InFrame|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													72	224					0	0	1	0	0	T	52824952	C	T	52824952	3	4	22	1	0	0	0	0	1	0	0	0	2745	565	20	2	1540	2	CC2D1B	1	52824952	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	928	52824952	196425669	592	2738											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	254					0	0	1	0	0	A	52896778	G	A	52896778	3	1	22	1	0	0	0	0	1	0	0	0	17639	1261	44	2	331	2	ZCCHC11	1	52896778	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71826	52896778	196353843	593	2739											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000257177.4_Missense_Mutation_p.K729E|ZCCHC11_ENST00000371541.1_5'UTR	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													171	605					0	0	1	0	0	C	52941046	T	C	52941046	3	2	22	1	0	0	0	0	1	0	0	0	17639	1792	62	3	2824	3	ZCCHC11	1	52941046	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44268	52941046	196309575	594	2740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000257177.4_Missense_Mutation_p.S165N|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.S165N|ZCCHC11_ENST00000371541.1_5'UTR	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													116	937					0	0	1	0	0	T	52991459	C	T	52991459	3	4	22	1	0	0	0	0	1	0	0	0	17639	565	20	2	4559	2	ZCCHC11	1	52991459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50413	52991459	196259162	595	2741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													253	949					0	0	1	0	0	T	53108559	C	T	53108559	2	4	22	1	0	0	0	0	0	0	0	1	5498	639	23	1		1	FAM159A	1	53108559	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117100	53108559	196142062	596	2742											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													140	486					0	0	1	0	0	T	53122577	C	T	53122577	2	4	22	1	0	0	0	0	0	0	0	1	5498	709	25	2		2	FAM159A	1	53122577	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14018	53122577	196128044	597	2743											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545132.1_Missense_Mutation_p.S270F|ZYG11B_ENST00000443756.2_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													69	241					0	0	1	0	0	T	53237304	C	T	53237304	3	4	22	1	0	0	0	0	1	0	0	0	18293	913	32	2	819	2	ZYG11B	1	53237304	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114727	53237304	196013317	598	2744											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545132.1_Silent_p.L491L|ZYG11B_ENST00000443756.2_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													64	210					0	0	1	0	0	T	53262444	C	T	53262444	2	4	22	1	0	0	0	0	0	0	0	1	18293	900	32	2		2	ZYG11B	1	53262444	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25140	53262444	195988177	599	2745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358358.5_Silent_p.L154L|ECHDC2_ENST00000371522.4_Silent_p.L185L			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													25	212					0	0	1	0	0	A	53370467	G	A	53370467	2	1	22	1	0	0	0	0	0	0	0	1	4920	991	35	2		2	ECHDC2	1	53370467	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108023	53370467	195880154	600	2746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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|SCP2_ENST00000528311.1_Missense_Mutation_p.G165D	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													20	201					0	0	1	0	0	A	53443951	G	A	53443951	3	1	22	1	0	0	0	0	1	0	0	0	13988	1203	42	2	771	2	SCP2	1	53443951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73484	53443951	195806670	601	2747											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	138					0	0	1	0	0	T	53556405	C	T	53556405	3	4	22	1	0	0	0	0	1	0	0	0	14492	536	19	1	593	1	SLC1A7	1	53556405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112454	53556405	195694216	602	2748											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	23					0	0	1	0	0	A	53608004	G	A	53608004	3	1	22	1	0	0	0	0	1	0	0	0	14492	1115	39	1	1608	1	SLC1A7	1	53608004	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51599	53608004	195642617	603	2749											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	334					0	0	1	0	0	T	53676305	C	T	53676305	3	4	22	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	604	2750											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354412.3_Silent_p.S639S|LRP8_ENST00000371454.2_Silent_p.S843S|LRP8_ENST00000347547.2_Silent_p.S673S|LRP8_ENST00000465675.1_Silent_p.S396S	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													39	355					0	0	1	0	0	G	53716509	A	G	53716509	2	3	22	1	0	0	0	0	0	0	0	1	9008	156	6	3		3	LRP8	1	53716509	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40204	53716509	195534112	605	2751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354412.3_Silent_p.C154C|LRP8_ENST00000371454.2_Silent_p.C154C|LRP8_ENST00000347547.2_Silent_p.C154C|LRP8_ENST00000465675.1_5'UTR	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													49	210					0	0	1	0	0	A	53746293	G	A	53746293	2	1	22	1	0	0	0	0	0	0	0	1	9008	1079	38	1		1	LRP8	1	53746293	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29784	53746293	195504328	606	2752											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	41					0	0	1	0	0	A	53975654	G	A	53975654	2	1	22	1	0	0	0	0	0	0	0	1	6487	962	34	2		2	GLIS1	1	53975654	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	229361	53975654	195274967	607	2753											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000469457.1_5'UTR|YIPF1_ENST00000539954.1_Missense_Mutation_p.G94E|YIPF1_ENST00000371399.1_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													25	244					0	0	1	0	0	T	54344385	C	T	54344385	3	4	22	1	0	0	0	0	1	0	0	0	17537	855	30	2	738	2	YIPF1	1	54344385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	368731	54344385	194906236	608	2754											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	335					0	0	1	0	0	G	54387388	T	G	54387388	3	3	22	1	0	0	0	0	1	0	0	0	7462	1435	50	3	67	3	HSPB11	1	54387388	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43003	54387388	194863233	609	2755											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	236					0	0	1	0	0	C	54418090	A	C	54418090	3	2	22	1	0	0	0	0	1	0	0	0	9045	247	9	3	420	3	LRRC42	1	54418090	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30702	54418090	194832531	610	2756											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	393					0	0	1	0	0	T	54426034	C	T	54426034	3	4	22	1	0	0	0	0	1	0	0	0	9045	565	20	2	621	2	LRRC42	1	54426034	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7944	54426034	194824587	611	2757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	290					5.09552e-08	5.30909e-08	1	1	0	A	54433606	C	A	54433606	2	1	22	1	0	0	0	0	0	0	0	1	9045	668	24	2		2	LRRC42	1	54433606	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7572	54433606	194817015	612	2758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	636					0	0	1	0	0	T	54474776	C	T	54474776	3	4	22	1	0	0	0	0	1	0	0	0	8744	623	22	2	124	2	LDLRAD1	1	54474776	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41170	54474776	194775845	613	2759											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	322					0	0	1	0	0	T	54518711	C	T	54518711	3	4	22	1	0	0	0	0	1	0	0	0	16245	739	26	2	852	2	TMEM59	1	54518711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43935	54518711	194731910	614	2760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	209					0	0	1	0	0	A	54606931	G	A	54606931	2	1	22	1	0	0	0	0	0	0	0	1	3116	1020	36	2		2	CDCP2	1	54606931	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88220	54606931	194643690	615	2761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534324.1_Missense_Mutation_p.G306S|CYB5RL_ENST00000287899.8_Missense_Mutation_p.G238S|CYB5RL_ENST00000401046.3_Missense_Mutation_p.G158S|CYB5RL_ENST00000537208.1_Missense_Mutation_p.G238S|CYB5RL_ENST00000542737.1_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													5	77					0	0	1	0	0	T	54640324	C	T	54640324	3	4	22	1	0	0	0	0	1	0	0	0	4153	681	24	2	35	2	CYB5RL	1	54640324	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33393	54640324	194610297	616	2762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000336230.6_Intron|MRPL37_ENST00000360840.5_Silent_p.E168E|MRPL37_ENST00000487096.1_3'UTR			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													71	267					0	0	1	0	0	A	54670848	G	A	54670848	2	1	22	1	0	0	0	0	0	0	0	1	9849	991	35	2		2	MRPL37	1	54670848	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30524	54670848	194579773	617	2763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_3'UTR	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													50	215					0	0	1	0	0	T	55075382	C	T	55075382	4	4	22	1	0	0	0	0	0	1	0	0	5488	740	26	2	444	2	FAM151A	1	55075382	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	404534	55075382	194175239	618	2764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	179					0	0	1	0	0	T	55080452	C	T	55080452	3	4	22	1	0	0	0	0	1	0	0	0	5488	565	20	2	1281	2	FAM151A	1	55080452	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5070	55080452	194170169	619	2765											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MROH7_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_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													18	115					0	0	1	0	0	C	55194081	T	C	55194081	2	2	22	1	0	0	0	0	0	0	0	1	16772	1461	51	3		3	TTC4	1	55194081	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	113629	55194081	194056540	620	2766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	372					4.70087e-54	5.86491e-54	1	1	0	A	55224511	C	A	55224511	3	1	22	1	0	0	0	0	1	0	0	0	11514	912	32	2	1107	2	PARS2	1	55224511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30430	55224511	194026110	621	2767											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	131					0	0	1	0	0	A	55319794	G	A	55319794	2	1	22	1	0	0	0	0	0	0	0	1	4504	1140	40	1		1	DHCR24	1	55319794	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95283	55319794	193930827	622	2768											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543384.1_Missense_Mutation_p.A196T|PCSK9_ENST00000490692.1_3'UTR	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													40	448					0	0	1	0	0	A	55523714	G	A	55523714	3	1	22	1	0	0	0	0	1	0	0	0	11653	1319	46	2	1216	2	PCSK9	1	55523714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203920	55523714	193726907	623	2769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	37					0	0	1	0	0	A	55563334	G	A	55563334	2	1	22	1	0	0	0	0	0	0	0	1	17115	1252	44	2		2	USP24	1	55563334	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39620	55563334	193687287	624	2770											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	66					1.5739e-10	1.67034e-10	1	1	0	T	55569592	G	T	55569592	3	4	22	1	0	0	0	0	1	0	0	0	17115	942	33	2	2988	2	USP24	1	55569592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6258	55569592	193681029	625	2771											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	45					0	0	1	0	0	T	55589226	C	T	55589226	2	4	22	1	0	0	0	0	0	0	0	1	17115	639	23	1		1	USP24	1	55589226	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19634	55589226	193661395	626	2772											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	117					0.000442599	0.000448314	1	1	0	T	55620367	G	T	55620367	3	4	22	1	0	0	0	0	1	0	0	0	17115	1290	45	2	6555	2	USP24	1	55620367	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31141	55620367	193630254	627	2773											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	250					0	0	1	0	0	C	56977739	T	C	56977739	3	2	22	1	0	0	0	0	1	0	0	0	12336	1638	57	3	224	3	PPAP2B	1	56977739	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1357372	56977739	192272882	628	2774											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	554					0	0	1	0	0	A	56990067	G	A	56990067	3	1	22	1	0	0	0	0	1	0	0	0	12336	1087	38	1	494	1	PPAP2B	1	56990067	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12328	56990067	192260554	629	2775											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	408					0	0	1	0	0	T	57170116	C	T	57170116	4	4	22	1	0	0	0	0	0	1	0	0	12546	644	23	1	1287	1	PRKAA2	1	57170116	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180049	57170116	192080505	630	2776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	136					0	0	1	0	0	T	57340669	C	T	57340669	2	4	22	1	0	0	0	0	0	0	0	1	2432	903	32	2		2	C8A	1	57340669	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170553	57340669	191909952	631	2777											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													145	512					0	0	1	0	0	A	57378188	G	A	57378188	3	1	22	1	0	0	0	0	1	0	0	0	2432	1058	37	1	1531	1	C8A	1	57378188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37519	57378188	191872433	632	2778											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	250					0	0	1	0	0	G	57383318	T	G	57383318	3	3	22	1	0	0	0	0	1	0	0	0	2432	1696	59	3	1726	3	C8A	1	57383318	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5130	57383318	191867303	633	2779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.R141Q	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													65	583					0	0	1	0	0	T	59004545	C	T	59004545	3	4	22	1	0	0	0	0	1	0	0	0	10912	652	23	1	1184	1	OMA1	1	59004545	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1621227	59004545	190246076	634	2780											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	75					0	0	1	0	0	T	60139717	C	T	60139717	3	4	22	1	0	0	0	0	1	0	0	0	5904	681	24	2	1550	2	FGGY	1	60139717	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1135172	60139717	189110904	635	2781											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000465876.1_Intron|HOOK1_ENST00000395561.2_Nonsense_Mutation_p.E521*	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													25	197					2.4375e-19	2.7179e-19	1	1	0	T	60330860	G	T	60330860	4	4	22	1	0	0	0	0	0	1	0	0	7323	943	33	2	1757	2	HOOK1	1	60330860	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191143	60330860	188919761	636	2782											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	505					5.73435e-26	6.59582e-26	1	1	0	A	60377919	C	A	60377919	3	1	22	1	0	0	0	0	1	0	0	0	4195	854	30	2	1098	2	CYP2J2	1	60377919	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47059	60377919	188872702	637	2783	21	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	550					0	0	1	0	0	T	60377927	C	T	60377927	3	4	22	1	0	0	0	0	1	0	0	0	4195	797	28	2	1106	2	CYP2J2	1	60377927	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8	60377927	188872694	638	2784	21	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	483					0	0	1	0	0	A	60392254	G	A	60392254	2	1	22	1	0	0	0	0	0	0	0	1	4195	1020	36	2		2	CYP2J2	1	60392254	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14327	60392254	188858367	639	2785											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_795352.2	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													32	255					0	0	1	0	0	A	62366960	G	A	62366960	2	1	22	1	0	0	0	0	0	0	0	1	7775	933	33	2		2	INADL	1	62366960	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1974706	62366960	186883661	640	2786											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	425					7.79638e-53	9.70434e-53	1	1	0	A	62739298	C	A	62739298	3	1	22	1	0	0	0	0	1	0	0	0	8023	797	28	2	1541	2	KANK4	1	62739298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	372338	62739298	186511323	641	2787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000489185.1_5'UTR|DOCK7_ENST00000340370.5_Nonsense_Mutation_p.R1909*	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													55	486					0	0	1	0	0	A	62941521	G	A	62941521	4	1	22	1	0	0	0	0	0	1	0	0	4719	1066	37	1	624	1	DOCK7	1	62941521	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	202223	62941521	186309100	642	2788											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	281					1.33834e-09	1.40959e-09	1	1	0	T	62953075	G	T	62953075	2	4	22	1	0	0	0	0	0	0	0	1	4719	958	34	2		2	DOCK7	1	62953075	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11554	62953075	186297546	643	2789											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404627.2_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000340370.5_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													109	411					0	0	1	0	0	G	63069843	T	G	63069843	3	3	22	1	0	0	0	0	1	0	0	0	611	1838	64	3	1157	3	ANGPTL3	1	63069843	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	116768	63069843	186180778	644	2790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404627.2_Missense_Mutation_p.D184N|DOCK7_ENST00000340370.5_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													65	231					0	0	1	0	0	T	63113959	C	T	63113959	3	4	22	1	0	0	0	0	1	0	0	0	4719	913	32	2	5955	2	DOCK7	1	63113959	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44116	63113959	186136662	645	2791											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													166	637					0	0	1	0	0	A	63789347	G	A	63789347	2	1	22	1	0	0	0	0	0	0	0	1	6031	1103	39	1		1	FOXD3	1	63789347	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	675388	63789347	185461274	646	2792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000271002.10_Missense_Mutation_p.S60P|ITGB3BP_ENST00000283568.8_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													44	148					0	0	1	0	0	G	63955760	A	G	63955760	3	3	22	1	0	0	0	0	1	0	0	0	7940	333	12	3	379	3	ITGB3BP	1	63955760	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	166413	63955760	185294861	647	2793											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	221					0	0	1	0	0	T	64027454	C	T	64027454	4	4	22	1	0	0	0	0	0	1	0	0	4966	876	31	1	1461	1	EFCAB7	1	64027454	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71694	64027454	185223167	648	2794											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371084.3_Nonsense_Mutation_p.R503*|PGM1_ENST00000483707.1_3'UTR|PGM1_ENST00000540265.1_Nonsense_Mutation_p.R306*	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													66	214					0	0	1	0	0	T	64120045	C	T	64120045	4	4	22	1	0	0	0	0	0	1	0	0	11845	644	23	1	1849	1	PGM1	1	64120045	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92591	64120045	185130576	649	2795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371080.1_Missense_Mutation_p.S49A|ROR1_ENST00000482426.1_3'UTR	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													185	713					0	0	1	0	0	G	64475030	T	G	64475030	3	3	22	1	0	0	0	0	1	0	0	0	13578	1551	54	3	151	3	ROR1	1	64475030	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	354985	64475030	184775591	650	2796											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64676474G>T	ENST00000371077.4	+	4	715	c.291G>T	c.(289-291)gaG>gaT	p.E97D	UBE2U_ENST00000371076.3_Missense_Mutation_p.E97D			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													28	145					2.80507e-11	2.99019e-11	1	1	0	T	64676474	G	T	64676474	3	4	22	1	0	0	0	0	1	0	0	0	16935	933	33	2	305	2	UBE2U	1	64676474	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201444	64676474	184574147	651	2797											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	959					0	0	1	0	0	G	65129424	T	G	65129424	4	3	22	1	0	0	0	0	0	1	0	0	2555	1471	51	3	1899	3	CACHD1	1	65129424	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	452950	65129424	184121197	652	2798											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	642					3.12118e-38	3.75939e-38	1	1	0	A	65137258	C	A	65137258	3	1	22	1	0	0	0	0	1	0	0	0	2555	913	32	2	2312	2	CACHD1	1	65137258	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7834	65137258	184113363	653	2799											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371072.4_Missense_Mutation_p.S376I|RAVER2_ENST00000430964.2_Missense_Mutation_p.S82I			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													36	420					3.33393e-15	3.63836e-15	1	1	0	T	65268680	G	T	65268680	3	4	22	1	0	0	0	0	1	0	0	0	13147	971	34	2	1149	2	RAVER2	1	65268680	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131422	65268680	183981941	654	2800											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								69	295					0	0	1	0	0	A	65332855	G	A	65332855	2	1	22	1	0	0	0	0	0	0	0	1	7981	1335	47	2		2	JAK1	1	65332855	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64175	65332855	183917766	655	2801											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000263441.7_Silent_p.Q353Q|DNAJC6_ENST00000371069.4_Silent_p.Q423Q	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													47	370					0	0	1	0	0	A	65855014	G	A	65855014	2	1	22	1	0	0	0	0	0	0	0	1	4680	962	34	2		2	DNAJC6	1	65855014	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	522159	65855014	183395607	656	2802											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000263441.7_Silent_p.C369C|DNAJC6_ENST00000371069.4_Silent_p.C439C	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													63	282					0	0	1	0	0	T	65855062	C	T	65855062	2	4	22	1	0	0	0	0	0	0	0	1	4680	718	25	2		2	DNAJC6	1	65855062	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48	65855062	183395559	657	2803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.T202P|LEPR_ENST00000344610.8_Missense_Mutation_p.T202P|LEPR_ENST00000371059.3_Missense_Mutation_p.T202P|LEPR_ENST00000371060.3_Missense_Mutation_p.T202P|LEPR_ENST00000462765.1_3'UTR	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													11	369					0	0	1	0	0	C	66058449	A	C	66058449	3	2	22	1	0	0	0	0	1	0	0	0	8767	43	2	3	618	3	LEPR	1	66058449	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	203387	66058449	183192172	658	2804											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.S736I|LEPR_ENST00000344610.8_Missense_Mutation_p.S736I|LEPR_ENST00000371059.3_Missense_Mutation_p.S736I|LEPR_ENST00000371060.3_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													7	174					0.0293803	0.0294705	1	1	0	T	66081902	G	T	66081902	3	4	22	1	0	0	0	0	1	0	0	0	8767	971	34	2	2257	2	LEPR	1	66081902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23453	66081902	183168719	659	2805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	326					0	0	1	0	0	T	66102160	C	T	66102160	3	4	22	1	0	0	0	0	1	0	0	0	8767	739	26	2	3260	2	LEPR	1	66102160	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20258	66102160	183148461	660	2806											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371035.3_Missense_Mutation_p.S281Y|SGIP1_ENST00000371036.3_Missense_Mutation_p.S291Y|SGIP1_ENST00000371039.1_Missense_Mutation_p.S292Y|SGIP1_ENST00000237247.6_Missense_Mutation_p.S522Y	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													93	814					1.11079e-38	1.33978e-38	1	1	0	A	67155901	C	A	67155901	3	1	22	1	0	0	0	0	1	0	0	0	14260	913	32	2	1538	2	SGIP1	1	67155901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1053741	67155901	182094720	661	2807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	453					0	0	1	0	0	A	67236111	G	A	67236111	3	1	22	1	0	0	0	0	1	0	0	0	15778	1145	40	1	167	1	TCTEX1D1	1	67236111	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80210	67236111	182014510	662	2808											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	366					0	0	1	0	0	T	67266800	C	T	67266800	2	4	22	1	0	0	0	0	0	0	0	1	7813	842	30	2		2	INSL5	1	67266800	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30689	67266800	181983821	663	2809											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	140					0	0	1	0	0	C	67299780	T	C	67299780	2	2	22	1	0	0	0	0	0	0	0	1	17388	1722	60	3		3	WDR78	1	67299780	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32980	67299780	181950841	664	2810											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	319					0	0	1	0	0	T	67301382	C	T	67301382	3	4	22	1	0	0	0	0	1	0	0	0	17388	536	19	1	914	1	WDR78	1	67301382	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1602	67301382	181949239	665	2811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431318.1_Nonsense_Mutation_p.W222*|WDR78_ENST00000371023.3_Nonsense_Mutation_p.W476*	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													69	355					0	0	1	0	0	T	67306218	C	T	67306218	4	4	22	1	0	0	0	0	0	1	0	0	17388	508	18	2	1211	2	WDR78	1	67306218	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4836	67306218	181944403	666	2812											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	471					0	0	1	0	0	G	67558913	T	G	67558913	3	3	22	1	0	0	0	0	1	0	0	0	2014	1722	60	3	228	3	C1orf141	1	67558913	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	252695	67558913	181691708	667	2813											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	435					0	0	1	0	0	A	67559028	G	A	67559028	3	1	22	1	0	0	0	0	1	0	0	0	2014	1087	38	1	343	1	C1orf141	1	67559028	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115	67559028	181691593	668	2814											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473881.1_Intron|IL23R_ENST00000395227.1_Missense_Mutation_p.N95S	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													19	216					0	0	1	0	0	G	67705865	A	G	67705865	3	3	22	1	0	0	0	0	1	0	0	0	7720	43	2	3	1079	3	IL23R	1	67705865	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	146837	67705865	181544756	669	2815											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	232					0	0	1	0	0	A	68954087	G	A	68954087	3	1	22	1	0	0	0	0	1	0	0	0	4467	1145	40	1	1776	1	DEPDC1	1	68954087	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1248222	68954087	180296534	670	2816											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Silent_p.F82F|LRRC7_ENST00000035383.5_Silent_p.F44F			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													31	249					0	0	1	0	0	T	70226019	C	T	70226019	2	4	22	1	0	0	0	0	0	0	0	1	9065	883	31	1		1	LRRC7	1	70226019	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1271932	70226019	179024602	671	2817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Silent_p.G171G|LRRC7_ENST00000035383.5_Silent_p.G133G			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													43	393					2.13384e-23	2.42615e-23	1	1	0	A	70300475	C	A	70300475	2	1	22	1	0	0	0	0	0	0	0	1	9065	784	28	2		2	LRRC7	1	70300475	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74456	70300475	178950146	672	2818											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA|RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000035383.5_Silent_p.A460A			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													42	147					0	0	1	0	0	T	70486761	C	T	70486761	2	4	22	1	0	0	0	0	0	0	0	1	9065	668	24	2		2	LRRC7	1	70486761	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186286	70486761	178763860	673	2819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415775.2_Missense_Mutation_p.P17L|LRRC7_ENST00000035383.5_Missense_Mutation_p.P733L			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													76	841					0	0	1	0	0	T	70503819	C	T	70503819	3	4	22	1	0	0	0	0	1	0	0	0	9065	681	24	2	2272	2	LRRC7	1	70503819	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17058	70503819	178746802	674	2820											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415775.2_Missense_Mutation_p.T115A|LRRC7_ENST00000035383.5_Missense_Mutation_p.T831A			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													34	276					0	0	1	0	0	G	70504112	A	G	70504112	3	3	22	1	0	0	0	0	1	0	0	0	9065	159	6	3	2565	3	LRRC7	1	70504112	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	293	70504112	178746509	675	2821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415775.2_Silent_p.R707R|LRRC7_ENST00000035383.5_Silent_p.R1423R			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													18	440					3.51602e-12	3.76992e-12	1	1	0	A	70541910	C	A	70541910	2	1	22	1	0	0	0	0	0	0	0	1	9065	643	23	4		4	LRRC7	1	70541910	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37798	70541910	178708711	676	2822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000262346.6_Missense_Mutation_p.S421I|ANKRD13C_ENST00000464236.1_5'UTR	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													17	653					6.94344e-10	7.33246e-10	1	1	0	A	70740430	C	A	70740430	3	1	22	1	0	0	0	0	1	0	0	0	639	797	28	2	270	2	ANKRD13C	1	70740430	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198520	70740430	178510191	677	2823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70742526G>A	ENST00000370944.4	-	10	1530	c.1215_splice	c.e10-1	p.P406_splice	ANKRD13C_ENST00000262346.6_Splice_Site_p.P371_splice|ANKRD13C_ENST00000464236.1_5'UTR	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													28	144					0	0	1	0	0	A	70742526	G	A	70742526	5	1	22	1	0	0	0	0	0	0	1	0	639	1130	39	1	424	1	ANKRD13C	1	70742526	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2096	70742526	178508095	678	2824											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359875.5_Missense_Mutation_p.A112V|HHLA3_ENST00000531950.1_Missense_Mutation_p.A112V|HHLA3_ENST00000361764.4_3'UTR|HHLA3_ENST00000432224.1_Nonsense_Mutation_p.R113*	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													9	82					0	0	1	0	0	T	70832204	C	T	70832204	4	4	22	1	0	0	0	0	0	1	0	0	7137	769	27	1	341	1	HHLA3	1	70832204	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89678	70832204	178418417	679	2825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:71437417C>T	ENST00000306666.5	-	4	1380		c.e4-1		PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000356595.4_Intron|PTGER3_ENST00000414819.1_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													13	488					0	0	1	0	0	T	71437417	C	T	71437417	5	4	22	1	0	0	0	0	0	0	1	0	12794	927	32	2	220	2	PTGER3	1	71437417	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	605213	71437417	177813204	680	2826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354608.5_Silent_p.A241A|PTGER3_ENST00000370931.3_Silent_p.A241A|PTGER3_ENST00000460330.1_Silent_p.A241A|PTGER3_ENST00000351052.5_Silent_p.A241A|PTGER3_ENST00000370932.2_Silent_p.A241A|PTGER3_ENST00000356595.4_Silent_p.A241A|PTGER3_ENST00000414819.1_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													53	530					0	0	1	0	0	T	71512538	C	T	71512538	2	4	22	1	0	0	0	0	0	0	0	1	12794	755	27	1		1	PTGER3	1	71512538	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75121	71512538	177738083	681	2827											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	427					0	0	1	0	0	A	71536592	G	A	71536592	4	1	22	1	0	0	0	0	0	1	0	0	18265	1153	40	1	445	1	ZRANB2	1	71536592	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24054	71536592	177714029	682	2828											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:72241933C>T	ENST00000357731.4	-	3	696	c.457G>A	c.(457-459)Gga>Aga	p.G153R	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_Missense_Mutation_p.G25R|NEGR1_ENST00000434200.1_Missense_Mutation_p.G151R	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	153	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													16	103					0	0	1	0	0	T	72241933	C	T	72241933	3	4	22	1	0	0	0	0	1	0	0	0	10364	690	24	2	627	2	NEGR1	1	72241933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	705341	72241933	177008688	683	2829											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	143					0.307466	0.307576	1	1	0	T	74492596	G	T	74492596	2	4	22	1	0	0	0	0	0	0	0	1	9075	987	35	2		2	LRRIQ3	1	74492596	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2250663	74492596	174758025	684	2830											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	317					0	0	1	0	0	A	74648414	G	A	74648414	2	1	22	1	0	0	0	0	0	0	0	1	9075	1277	45	2		2	LRRIQ3	1	74648414	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155818	74648414	174602207	685	2831											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	141					0	0	1	0	0	A	74649258	G	A	74649258	2	1	22	1	0	0	0	0	0	0	0	1	9075	1190	42	2		2	LRRIQ3	1	74649258	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	844	74649258	174601363	686	2832											
TNNI3K	51086	broad.mit.edu	37	chr1	74957824	74957826	+	In_Frame_Del	DEL	CTT	CTT	-													cagcagtgggtctctctcacCttcttcttcttctgattgcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74957824_74957826delCTT	ENST00000370891.2	+	25	2544_2546	c.2528_2530delCTT	c.(2527-2532)cct>c	p.PS843del	LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del	NM_001112808.2	NP_001106279.1			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						TCTCTCTCACCTTCTTCTTCTTC	0.473													9	1062	---	---	---	---						-	74957826	CTT	-	74957824	7	5	22	1	0	1	0	1	0	0	0	0	16389	681	24	0	2670	0	TNNI3K	1	74957824	In_Frame_Del	DEL	CTT	TCGA-IB-7651-01A-11D-2154-08	308566	74957824	174292797	687	2833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													149	644					1.50172e-47	1.84921e-47	1	1	0	A	75036989	C	A	75036989	4	1	22	1	0	0	0	0	0	1	0	0	2027	690	24	2	191	2	C1orf173	1	75036989	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79165	75036989	174213632	688	2834											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	537					4.46965e-45	5.47738e-45	1	1	0	A	75037224	C	A	75037224	3	1	22	1	0	0	0	0	1	0	0	0	2027	680	24	2	426	2	C1orf173	1	75037224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	235	75037224	174213397	689	2835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	415					0	0	1	0	0	A	75038471	G	A	75038471	3	1	22	1	0	0	0	0	1	0	0	0	2027	942	33	2	1673	2	C1orf173	1	75038471	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1247	75038471	174212150	690	2836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	C1orf173_ENST00000420661.2_Missense_Mutation_p.S166I|RP4-612J11.1_ENST00000416017.1_RNA	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													38	220					4.46736e-08	4.65807e-08	1	1	0	A	75078406	C	A	75078406	3	1	22	1	0	0	0	0	1	0	0	0	2027	797	28	2	3528	2	C1orf173	1	75078406	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39935	75078406	174172215	691	2837											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75204373G>A	ENST00000370867.3	+	3	344		c.e3-1		TYW3_ENST00000421739.2_Intron|TYW3_ENST00000479111.1_Splice_Site|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													26	133					0	0	1	0	0	A	75204373	G	A	75204373	5	1	22	1	0	0	0	0	0	0	1	0	16881	956	33	2	265	2	TYW3	1	75204373	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125967	75204373	174046248	692	2838											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	411					0	0	1	0	0	T	75622644	C	T	75622644	3	4	22	1	0	0	0	0	1	0	0	0	8816	623	22	2	907	2	LHX8	1	75622644	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	418271	75622644	173627977	693	2839											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	140					0	0	1	0	0	G	75683558	A	G	75683558	2	3	22	1	0	0	0	0	0	0	0	1	14694	262	10	3		3	SLC44A5	1	75683558	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60914	75683558	173567063	694	2840											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	130					0	0	1	0	0	T	75683626	C	T	75683626	3	4	22	1	0	0	0	0	1	0	0	0	14694	797	28	2	749	2	SLC44A5	1	75683626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68	75683626	173566995	695	2841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75684943T>C	ENST00000370855.5	-	16	1378	c.1266_splice	c.e16+1	p.E422_splice	SLC44A5_ENST00000535611.1_Splice_Site_p.E292_splice|SLC44A5_ENST00000370859.3_Splice_Site_p.E422_splice	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													11	252					0	0	1	0	0	C	75684943	T	C	75684943	5	2	22	1	0	0	0	0	0	0	1	0	14694	1565	54	3	1041	3	SLC44A5	1	75684943	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1317	75684943	173565678	696	2842											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	181					2.81731e-10	2.98404e-10	1	1	0	A	75688057	C	A	75688057	3	1	22	1	0	0	0	0	1	0	0	0	14694	680	24	2	1240	2	SLC44A5	1	75688057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3114	75688057	173562564	697	2843											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	233					0	0	1	0	0	A	75704231	G	A	75704231	3	1	22	1	0	0	0	0	1	0	0	0	14694	1377	48	2	1707	2	SLC44A5	1	75704231	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16174	75704231	173546390	698	2844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					19	262					0	0	1	0	0	T	76262729	C	T	76262729	3	4	22	1	0	0	0	0	1	0	0	0	9921	893	31	1	61	1	MSH4	1	76262729	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	558498	76262729	172987892	699	2845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					36	249					0	0	1	0	0	G	76343977	A	G	76343977	3	3	22	1	0	0	0	0	1	0	0	0	9921	391	14	3	1556	3	MSH4	1	76343977	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	81248	76343977	172906644	700	2846											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	333					0	0	1	0	0	A	76779638	G	A	76779638	3	1	22	1	0	0	0	0	1	0	0	0	15281	1116	39	1	173	1	ST6GALNAC3	1	76779638	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	435661	76779638	172470983	701	2847											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	405					2.0095e-06	2.07161e-06	1	1	0	A	77528857	C	A	77528857	3	1	22	1	0	0	0	0	1	0	0	0	15283	797	28	2	995	2	ST6GALNAC5	1	77528857	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	749219	77528857	171721764	702	2848											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	73					0	0	1	0	0	A	78031830	G	A	78031830	3	1	22	1	0	0	0	0	1	0	0	0	18296	1057	37	1	216	1	ZZZ3	1	78031830	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	502973	78031830	171218791	703	2849											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78034018T>G	ENST00000370801.3	-	13	2940	c.2466_splice	c.e13+1	p.K822_splice	ZZZ3_ENST00000370798.1_Splice_Site_p.K328_splice|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													83	290					0	0	1	0	0	G	78034018	T	G	78034018	5	3	22	1	0	0	0	0	0	0	1	0	18296	1623	56	3	258	3	ZZZ3	1	78034018	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2188	78034018	171216603	704	2850											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	534					9.84934e-19	1.0948e-18	1	1	0	T	78046696	G	T	78046696	3	4	22	1	0	0	0	0	1	0	0	0	18296	1029	36	2	772	2	ZZZ3	1	78046696	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12678	78046696	171203925	705	2851											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	214					0	0	1	0	0	G	78097537	T	G	78097537	3	3	22	1	0	0	0	0	1	0	0	0	18296	1606	56	3	1252	3	ZZZ3	1	78097537	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	50841	78097537	171153084	706	2852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	515					1.23713e-20	1.38774e-20	1	1	0	A	78167123	C	A	78167123	3	1	22	1	0	0	0	0	1	0	0	0	17124	797	28	2	307	2	USP33	1	78167123	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69586	78167123	171083498	707	2853											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370794.3_Missense_Mutation_p.V134I|USP33_ENST00000357428.1_Missense_Mutation_p.V165I|USP33_ENST00000370792.3_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													70	287					0	0	1	0	0	T	78201795	C	T	78201795	3	4	22	1	0	0	0	0	1	0	0	0	17124	536	19	1	2423	1	USP33	1	78201795	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34672	78201795	171048826	708	2854											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330010.8_Intron|NEXN_ENST00000457030.1_Missense_Mutation_p.V18A|NEXN_ENST00000294624.8_Missense_Mutation_p.V18A	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													47	147					0	0	1	0	0	C	78383276	T	C	78383276	3	2	22	1	0	0	0	0	1	0	0	0	10402	1667	58	3	59	3	NEXN	1	78383276	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	181481	78383276	170867345	709	2855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	357					0	0	1	0	0	A	78392549	G	A	78392549	3	1	22	1	0	0	0	0	1	0	0	0	10402	1145	40	1	862	1	NEXN	1	78392549	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9273	78392549	170858072	710	2856											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	386					0	0	1	0	0	A	78546358	G	A	78546358	5	1	22	1	0	0	0	0	0	0	1	0	6435	956	33	2	246	2	GIPC2	1	78546358	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153809	78546358	170704263	711	2857											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	117					0	0	1	0	0	A	78585184	G	A	78585184	5	1	22	1	0	0	0	0	0	0	1	0	6435	1275	44	2	729	2	GIPC2	1	78585184	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38826	78585184	170665437	712	2858											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370758.1_Missense_Mutation_p.L280M|PTGFR_ENST00000370756.3_3'UTR	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													36	412					1.90571e-15	2.08261e-15	1	1	0	A	79002130	C	A	79002130	3	1	22	1	0	0	0	0	1	0	0	0	12799	912	32	2	919	2	PTGFR	1	79002130	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	416946	79002130	170248491	713	2859											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79094664G>T	ENST00000370751.4	+	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	169						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ACGACATAAAGAGGATAATTA	0.299													18	205					1.64293e-13	1.77503e-13	1	1	0	T	79094664	G	T	79094664	3	4	22	1	0	0	0	0	1	0	0	0	7562	933	33	2	513	2	IFI44L	1	79094664	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92534	79094664	170155957	714	2860											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79102805T>A	ENST00000370751.4	+	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	322						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GTGGCTTATGTCTTAGACATC	0.368													114	374					0	0	1	0	0	A	79102805	T	A	79102805	3	1	22	1	0	0	0	0	1	0	0	0	7562	1667	58	5	983	5	IFI44L	1	79102805	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8141	79102805	170147816	715	2861											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	147					0	0	1	0	0	G	79356886	A	G	79356886	3	3	22	1	0	0	0	0	1	0	0	0	5112	362	13	3	50	3	ELTD1	1	79356886	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	254081	79356886	169893735	716	2862											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	146					0	0	1	0	0	T	79403918	C	T	79403918	3	4	22	1	0	0	0	0	1	0	0	0	5112	913	32	2	1673	2	ELTD1	1	79403918	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47032	79403918	169846703	717	2863											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359929.3_Missense_Mutation_p.D265N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D269N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D265N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D265N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D265N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.D265N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D265N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D265N|LPHN2_ENST00000370715.1_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													99	380					0	0	1	0	0	A	82409048	G	A	82409048	3	1	22	1	0	0	0	0	1	0	0	0	8961	1058	37	1	807	1	LPHN2	1	82409048	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3005130	82409048	166841573	718	2864											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359929.3_Missense_Mutation_p.D517N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D455N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D517N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D517N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D517N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.D517N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D517N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D517N|LPHN2_ENST00000370715.1_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													37	345					0	0	1	0	0	A	82416758	G	A	82416758	3	1	22	1	0	0	0	0	1	0	0	0	8961	1058	37	1	1571	1	LPHN2	1	82416758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7710	82416758	166833863	719	2865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359929.3_Missense_Mutation_p.L885P|LPHN2_ENST00000370713.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370723.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370721.1_Missense_Mutation_p.L823P|LPHN2_ENST00000394879.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370725.1_Missense_Mutation_p.L898P|LPHN2_ENST00000370727.1_Missense_Mutation_p.L898P|LPHN2_ENST00000271029.4_Missense_Mutation_p.L898P|LPHN2_ENST00000370717.2_Missense_Mutation_p.L898P|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.L898P|LPHN2_ENST00000370730.1_Missense_Mutation_p.L898P|LPHN2_ENST00000319517.6_Missense_Mutation_p.L885P|LPHN2_ENST00000370715.1_Missense_Mutation_p.L885P			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													45	395					0	0	1	0	0	C	82435043	T	C	82435043	3	2	22	1	0	0	0	0	1	0	0	0	8961	1522	53	3	2700	3	LPHN2	1	82435043	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18285	82435043	166815578	720	2866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359929.3_Missense_Mutation_p.M1126V|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.M1141V|LPHN2_ENST00000370721.1_Missense_Mutation_p.M1064V|LPHN2_ENST00000394879.1_Missense_Mutation_p.M1141V|LPHN2_ENST00000370725.1_Missense_Mutation_p.M1154V|LPHN2_ENST00000370727.1_Missense_Mutation_p.M1154V|LPHN2_ENST00000271029.4_Missense_Mutation_p.M1154V|LPHN2_ENST00000370717.2_Missense_Mutation_p.M1154V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.M1139V|LPHN2_ENST00000370730.1_Missense_Mutation_p.M1139V|LPHN2_ENST00000319517.6_Missense_Mutation_p.M1126V|LPHN2_ENST00000370715.1_Missense_Mutation_p.M1126V			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													6	261					0	0	1	0	0	G	82450958	A	G	82450958	3	3	22	1	0	0	0	0	1	0	0	0	8961	101	4	3	3446	3	LPHN2	1	82450958	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15915	82450958	166799663	721	2867											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359929.3_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.T1176A|LPHN2_ENST00000370721.1_Missense_Mutation_p.T1099A|LPHN2_ENST00000394879.1_Missense_Mutation_p.T1176A|LPHN2_ENST00000370725.1_Missense_Mutation_p.T1189A|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.T1189A|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370715.1_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													30	281					0	0	1	0	0	G	82452608	A	G	82452608	3	3	22	1	0	0	0	0	1	0	0	0	8961	58	2	3		3	LPHN2	1	82452608	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1650	82452608	166798013	722	2868											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	504					1.33834e-09	1.40959e-09	1	1	0	A	84372050	C	A	84372050	4	1	22	1	0	0	0	0	0	1	0	0	16794	690	24	2	594	2	TTLL7	1	84372050	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1919442	84372050	164878571	723	2869											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	155					0	0	1	0	0	T	84373275	C	T	84373275	3	4	22	1	0	0	0	0	1	0	0	0	16794	768	27	1	831	1	TTLL7	1	84373275	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1225	84373275	164877346	724	2870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000342203.3_Missense_Mutation_p.S341I|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.S341I|SSX2IP_ENST00000605755.1_Missense_Mutation_p.S314I	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													28	224					4.59853e-10	4.86106e-10	1	1	0	A	85124057	C	A	85124057	3	1	22	1	0	0	0	0	1	0	0	0	15260	797	28	2	846	2	SSX2IP	1	85124057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	750782	85124057	164126564	725	2871											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000284027.5_Missense_Mutation_p.F224C|MCOLN2_ENST00000531325.1_5'UTR	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													60	249					0	0	1	0	0	C	85412808	A	C	85412808	3	2	22	1	0	0	0	0	1	0	0	0	9446	14	1	3	977	3	MCOLN2	1	85412808	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	288751	85412808	163837813	726	2872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000284027.5_Missense_Mutation_p.R32C|MCOLN2_ENST00000531325.1_5'UTR	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													24	244					0	0	1	0	0	A	85431291	G	A	85431291	3	1	22	1	0	0	0	0	1	0	0	0	9446	1145	40	1	1574	1	MCOLN2	1	85431291	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18483	85431291	163819330	727	2873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MCOLN3_ENST00000341115.4_Missense_Mutation_p.A352V|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000474447.1_5'UTR	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													36	258					0	0	1	0	0	A	85487850	G	A	85487850	3	1	22	1	0	0	0	0	1	0	0	0	9447	1087	38	1	450	1	MCOLN3	1	85487850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56559	85487850	163762771	728	2874											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MCOLN3_ENST00000341115.4_Missense_Mutation_p.S276F|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370587.1_3'UTR	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													10	66					0	0	1	0	0	A	85491722	G	A	85491722	3	1	22	1	0	0	0	0	1	0	0	0	9447	942	33	2	686	2	MCOLN3	1	85491722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3872	85491722	163758899	729	2875											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	162					0	0	1	0	0	T	85570251	C	T	85570251	2	4	22	1	0	0	0	0	0	0	0	1	17374	805	28	2		2	WDR63	1	85570251	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78529	85570251	163680370	730	2876											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	55					0	0	1	0	0	G	85647833	A	G	85647833	3	3	22	1	0	0	0	0	1	0	0	0	15493	159	6	3	1112	3	SYDE2	1	85647833	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	77582	85647833	163602788	731	2877											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	102					0	0	1	0	0	T	85724406	C	T	85724406	5	4	22	1	0	0	0	0	0	0	1	0	2058	811	28	2	280	2	C1orf52	1	85724406	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76573	85724406	163526215	732	2878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539042.1_Missense_Mutation_p.R31I|DDAH1_ENST00000535924.2_Intron|DDAH1_ENST00000483110.1_Intron	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													4	32					0.014758	0.0148251	1	1	0	A	85930637	C	A	85930637	3	1	22	1	0	0	0	0	1	0	0	0	4344	913	32	2	789	2	DDAH1	1	85930637	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206231	85930637	163319984	733	2879											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	7	82					0	0	1	0	0	T	86047131	C	T	86047131	2	4	22	1	0	0	0	0	0	0	0	1	4222	784	28	2		2	CYR61	1	86047131	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116494	86047131	163203490	734	2880											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	20	756					2.94398e-08	3.0722e-08	1	1	0	A	86047630	C	A	86047630	2	1	22	1	0	0	0	0	0	0	0	1	4222	668	24	2		2	CYR61	1	86047630	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	499	86047630	163202991	735	2881											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	161					0	0	1	0	0	T	86167924	C	T	86167924	3	4	22	1	0	0	0	0	1	0	0	0	18251	536	19	1	501	1	ZNHIT6	1	86167924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120294	86167924	163082697	736	2882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	330					2.61193e-14	2.83483e-14	1	1	0	A	86590924	C	A	86590924	3	1	22	1	0	0	0	0	1	0	0	0	3706	912	32	2	4281	2	COL24A1	1	86590924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423000	86590924	162659697	737	2883											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	296					0	0	1	0	0	A	86590991	G	A	86590991	3	1	22	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	738	2884											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	211					0	0	1	0	0	T	86591325	C	T	86591325	3	4	22	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	739	2885											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	671					0	0	1	0	0	T	86905863	C	T	86905863	2	4	22	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	740	2886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	397					8.72215e-35	1.03874e-34	1	1	0	A	86909588	C	A	86909588	3	1	22	1	0	0	0	0	1	0	0	0	3481	681	24	2	1645	2	CLCA2	1	86909588	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3725	86909588	162341033	741	2887											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	229					0	0	1	0	0	T	86934771	C	T	86934771	2	4	22	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	742	2888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	251					4.67007e-22	5.27622e-22	1	1	0	A	86948009	C	A	86948009	3	1	22	1	0	0	0	0	1	0	0	0	3480	913	32	2	697	2	CLCA1	1	86948009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13238	86948009	162302612	743	2889											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	543					0	0	1	0	0	T	87025637	C	T	87025637	3	4	22	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	744	2890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	249					1.39806e-14	1.52044e-14	1	1	0	T	87033243	G	T	87033243	3	4	22	1	0	0	0	0	1	0	0	0	3482	971	34	2	1117	2	CLCA4	1	87033243	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7606	87033243	162217378	745	2891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	294					0	0	1	0	0	T	87185243	C	T	87185243	3	4	22	1	0	0	0	0	1	0	0	0	14308	884	31	1	278	1	SH3GLB1	1	87185243	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152000	87185243	162065378	746	2892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	220					6.88731e-43	8.39682e-43	1	1	0	A	87549948	C	A	87549948	4	1	22	1	0	0	0	0	0	1	0	0	7403	576	20	2	445	2	HS2ST1	1	87549948	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	364705	87549948	161700673	747	2893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	1453					0	0	1	0	0	A	89520419	G	A	89520419	2	1	22	1	0	0	0	0	0	0	0	1	6313	1136	40	1		1	GBP1	1	89520419	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1970471	89520419	159730202	748	2894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	409					0	0	1	0	0	T	89525106	C	T	89525106	3	4	22	1	0	0	0	0	1	0	0	0	6313	826	29	2	1488	2	GBP1	1	89525106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4687	89525106	159725515	749	2895											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	431					0	0	1	0	0	A	89575855	G	A	89575855	3	1	22	1	0	0	0	0	1	0	0	0	6314	1087	38	1	330	1	GBP2	1	89575855	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50749	89575855	159674766	750	2896											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													133	451					0	0	1	0	0	T	89587545	C	T	89587545	2	4	22	1	0	0	0	0	0	0	0	1	6314	755	27	1		1	GBP2	1	89587545	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11690	89587545	159663076	751	2897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	313					0	0	1	0	0	A	89652754	G	A	89652754	3	1	22	1	0	0	0	0	1	0	0	0	6316	1294	45	2	492	2	GBP4	1	89652754	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65209	89652754	159597867	752	2898											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	285					0	0	1	0	0	A	89655896	G	A	89655896	3	1	22	1	0	0	0	0	1	0	0	0	6316	971	34	2	920	2	GBP4	1	89655896	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3142	89655896	159594725	753	2899											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	312					0	0	1	0	0	A	89657065	G	A	89657065	2	1	22	1	0	0	0	0	0	0	0	1	6316	1136	40	1		1	GBP4	1	89657065	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1169	89657065	159593556	754	2900											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Missense_Mutation_p.L537M|RP4-620F22.2_ENST00000437128.1_RNA	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													115	518					6.83383e-50	8.46023e-50	1	1	0	T	89727941	G	T	89727941	3	4	22	1	0	0	0	0	1	0	0	0	6317	962	34	2	159	2	GBP5	1	89727941	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70876	89727941	159522680	755	2901											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	209					0	0	1	0	0	T	90048877	C	T	90048877	3	4	22	1	0	0	0	0	1	0	0	0	9067	855	30	2	670	2	LRRC8B	1	90048877	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	320936	90048877	159201744	756	2902											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_115646.2	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													35	273					1.836e-18	2.03801e-18	1	1	0	A	90178779	C	A	90178779	3	1	22	1	0	0	0	0	1	0	0	0	9068	681	24	2	656	2	LRRC8C	1	90178779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129902	90178779	159071842	757	2903											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_115646.2	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													29	313					1.17739e-12	1.26592e-12	1	1	0	A	90179146	C	A	90179146	4	1	22	1	0	0	0	0	0	1	0	0	9068	576	20	2	1023	2	LRRC8C	1	90179146	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	367	90179146	159071475	758	2904											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	166					0	0	1	0	0	T	90398904	C	T	90398904	3	4	22	1	0	0	0	0	1	0	0	0	9069	759	27	1	279	1	LRRC8D	1	90398904	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219758	90398904	158851717	759	2905											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	235					0	0	1	0	0	T	90399281	C	T	90399281	2	4	22	1	0	0	0	0	0	0	0	1	9069	776	27	1		1	LRRC8D	1	90399281	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	377	90399281	158851340	760	2906											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	467					0	0	1	0	0	T	90399638	C	T	90399638	2	4	22	1	0	0	0	0	0	0	0	1	9069	535	19	1		1	LRRC8D	1	90399638	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	357	90399638	158850983	761	2907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	328					0	0	1	0	0	T	90400677	C	T	90400677	4	4	22	1	0	0	0	0	0	1	0	0	9069	528	19	1	2052	1	LRRC8D	1	90400677	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1039	90400677	158849944	762	2908											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90470725G>A	ENST00000340281.4	+	4	274	c.131G>A	c.(130-132)gGg>gAg	p.G44E	ZNF326_ENST00000361911.5_Missense_Mutation_p.G44E|ZNF326_ENST00000370447.2_Missense_Mutation_p.G44E|ZNF326_ENST00000455342.2_Intron	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	44	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													73	378					0	0	1	0	0	A	90470725	G	A	90470725	3	1	22	1	0	0	0	0	1	0	0	0	17903	1232	43	2	145	2	ZNF326	1	90470725	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70048	90470725	158779896	763	2909											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	248					0	0	1	0	0	A	91182141	G	A	91182141	2	1	22	1	0	0	0	0	0	0	0	1	1312	1368	48	2		2	BARHL2	1	91182141	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	711416	91182141	158068480	764	2910											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000337393.5_Missense_Mutation_p.N385S|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|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													129	432					0	0	1	0	0	C	91405757	T	C	91405757	3	2	22	1	0	0	0	0	1	0	0	0	18117	1493	52	3	2845	3	ZNF644	1	91405757	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	223616	91405757	157844864	765	2911											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000337393.5_Missense_Mutation_p.K317T|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|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													69	248					0	0	1	0	0	G	91405961	T	G	91405961	3	3	22	1	0	0	0	0	1	0	0	0	18117	1841	64	3	3049	3	ZNF644	1	91405961	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	204	91405961	157844660	766	2912											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000337393.5_Nonsense_Mutation_p.E150*|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|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													104	378					2.07245e-51	2.57162e-51	1	1	0	A	91406463	C	A	91406463	4	1	22	1	0	0	0	0	0	1	0	0	18117	922	32	2	3551	2	ZNF644	1	91406463	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	502	91406463	157844158	767	2913											
HFM1	164045	broad.mit.edu	37	chr1	91727847	91727848	+	Frame_Shift_Ins	INS	-	-	T													tttctaataaaaaaatccacINSttttttataatttgaagaat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91727847_91727848insT	ENST00000370425.3	-	38	4286_4287	c.4188_4189insA	c.(4186-4191)aatggafs	p.NG1396fs	HFM1_ENST00000294696.5_3'UTR|HFM1_ENST00000370424.3_Frame_Shift_Ins_p.NG1075fs|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1396							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)		AAAAAATCCACTTTTTTATAAT	0.272													19	183	---	---	---	---						T	91727848	-	T	91727847	7	5	22	1	0	1	1	0	0	0	0	0	7124	565	20	0	126	0	HFM1	1	91727847	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	321384	91727847	157522774	768	2914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370424.3_Missense_Mutation_p.R676I|HFM1_ENST00000462405.1_5'UTR|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													14	59					1.05317e-09	1.11087e-09	1	1	0	A	91781522	C	A	91781522	3	1	22	1	0	0	0	0	1	0	0	0	7124	913	32	2	1365	2	HFM1	1	91781522	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53675	91781522	157469099	769	2915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													124	368					0	0	1	0	0	C	91841173	T	C	91841173	3	2	22	1	0	0	0	0	1	0	0	0	7124	1754	61	3	2912	3	HFM1	1	91841173	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	59651	91841173	157409448	770	2916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	560					0	0	1	0	0	C	91967338	T	C	91967338	3	2	22	1	0	0	0	0	1	0	0	0	3106	1841	64	3	67	3	CDC7	1	91967338	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	126165	91967338	157283283	771	2917											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525962.1_Silent_p.P154P|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Silent_p.P154P	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													153	627					6.19006e-74	7.88378e-74	1	1	0	T	92200439	G	T	92200439	2	4	22	1	0	0	0	0	0	0	0	1	15883	1219	43	2		2	TGFBR3	1	92200439	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	233101	92200439	157050182	772	2918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402388.1_Missense_Mutation_p.S455Y|BRDT_ENST00000399546.2_Missense_Mutation_p.S455Y|BRDT_ENST00000362005.3_Missense_Mutation_p.S455Y|BRDT_ENST00000394530.3_Missense_Mutation_p.S409Y	NM_001242810.1	NP_001229739.1	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													21	156					1.28384e-07	1.33406e-07	1	1	0	A	92446276	C	A	92446276	3	1	22	1	0	0	0	0	1	0	0	0	1510	913	32	2	1394	2	BRDT	1	92446276	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	245837	92446276	156804345	773	2919											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	124					7.48243e-07	7.73841e-07	1	1	0	T	92518101	G	T	92518101	3	4	22	1	0	0	0	0	1	0	0	0	5210	1203	42	2	765	2	EPHX4	1	92518101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71825	92518101	156732520	774	2920											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000342818.3_Missense_Mutation_p.R174K|BTBD8_ENST00000540648.1_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													56	214					0	0	1	0	0	A	92568203	G	A	92568203	3	1	22	1	0	0	0	0	1	0	0	0	1550	942	33	2	531	2	BTBD8	1	92568203	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50102	92568203	156682418	775	2921											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				25	276					0	0	1	0	0	C	92754605	T	C	92754605	3	2	22	1	0	0	0	0	1	0	0	0	6490	1628	57	3	1342	3	GLMN	1	92754605	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	186402	92754605	156496016	776	2922											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92789302C>T	ENST00000370343.3	+	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	275						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													40	376					0	0	1	0	0	T	92789302	C	T	92789302	2	4	22	1	0	0	0	0	0	0	0	1	13594	755	27	1		1	RPAP2	1	92789302	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34697	92789302	156461319	777	2923											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92801960T>G	ENST00000370343.3	+	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	532						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													29	280					0	0	1	0	0	G	92801960	T	G	92801960	3	3	22	1	0	0	0	0	1	0	0	0	13594	1609	56	3	1633	3	RPAP2	1	92801960	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12658	92801960	156448661	778	2924											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92846382A>G	ENST00000370343.3	+	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	597						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													37	351					0	0	1	0	0	G	92846382	A	G	92846382	3	3	22	1	0	0	0	0	1	0	0	0	13594	275	10	3	1836	3	RPAP2	1	92846382	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44422	92846382	156404239	779	2925											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491940.1_5'UTR|EVI5_ENST00000543509.1_Silent_p.R552R	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													7	224					0	0	1	0	0	A	93089889	G	A	93089889	2	1	22	1	0	0	0	0	0	0	0	1	5317	1190	42	2		2	EVI5	1	93089889	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	243507	93089889	156160732	780	2926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	157					0	0	1	0	0	A	93341969	G	A	93341969	3	1	22	1	0	0	0	0	1	0	0	0	5637	1086	38	1	1229	1	FAM69A	1	93341969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	252080	93341969	155908652	781	2927											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000471953.1_Intron|MTF2_ENST00000540243.1_Missense_Mutation_p.N174T|MTF2_ENST00000545708.1_Missense_Mutation_p.N174T|MTF2_ENST00000370303.4_Missense_Mutation_p.N276T	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	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													60	262					0	0	1	0	0	C	93586135	A	C	93586135	3	2	22	1	0	0	0	0	1	0	0	0	9971	43	2	3	861	3	MTF2	1	93586135	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	244166	93586135	155664486	782	2928											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TMED5_ENST00000370282.3_5'UTR|CCDC18_ENST00000343253.7_Intron|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000338949.4_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													42	153					0	0	1	0	0	T	93646151	C	T	93646151	3	4	22	1	0	0	0	0	1	0	0	0	2813	855	30	2	66	2	CCDC18	1	93646151	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60016	93646151	155604470	783	2929											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334652.5_Missense_Mutation_p.E128K|CCDC18_ENST00000401026.3_Missense_Mutation_p.E833K|CCDC18_ENST00000557479.1_Missense_Mutation_p.E951K|CCDC18_ENST00000421014.2_Intron|CCDC18_ENST00000338949.4_Missense_Mutation_p.E588K			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													29	231					0	0	1	0	0	A	93701841	G	A	93701841	3	1	22	1	0	0	0	0	1	0	0	0	2813	1175	41	2	2925	2	CCDC18	1	93701841	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55690	93701841	155548780	784	2930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370256.4_Missense_Mutation_p.K225T|FNBP1L_ENST00000604705.1_Missense_Mutation_p.K225T|FNBP1L_ENST00000271234.7_Missense_Mutation_p.K225T|FNBP1L_ENST00000370253.2_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													16	127					0	0	1	0	0	C	93998513	A	C	93998513	3	2	22	1	0	0	0	0	1	0	0	0	5999	14	1	3	704	3	FNBP1L	1	93998513	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	296672	93998513	155252108	785	2931											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370256.4_Missense_Mutation_p.A234D|FNBP1L_ENST00000604705.1_Missense_Mutation_p.A234D|FNBP1L_ENST00000271234.7_Missense_Mutation_p.A234D|FNBP1L_ENST00000370253.2_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													17	142					2.23348e-06	2.30073e-06	1	1	0	A	93998540	C	A	93998540	3	1	22	1	0	0	0	0	1	0	0	0	5999	797	28	2	731	2	FNBP1L	1	93998540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27	93998540	155252081	786	2932											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260502.6_Silent_p.A41A|BCAR3_ENST00000370243.1_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													48	157					1.48734e-19	1.65976e-19	1	1	0	T	94140364	G	T	94140364	2	4	22	1	0	0	0	0	0	0	0	1	1347	987	35	2		2	BCAR3	1	94140364	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141824	94140364	155110257	787	2933											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													229	730					0	0	1	0	0	A	94342258	G	A	94342258	2	1	22	1	0	0	0	0	0	0	0	1	4709	1368	48	2		2	DNTTIP2	1	94342258	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201894	94342258	154908363	788	2934											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	100					5.50884e-06	5.65664e-06	1	1	0	A	94354716	C	A	94354716	5	1	22	1	0	0	0	0	0	0	1	0	6336	927	32	2	173	2	GCLM	1	94354716	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12458	94354716	154895905	789	2935											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536513.1_Missense_Mutation_p.E316D|ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000535881.1_Missense_Mutation_p.E165D	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													93	366					0	0	1	0	0	G	94471006	T	G	94471006	3	3	22	1	0	0	0	0	1	0	0	0	34	1838	64	3	711	3	ABCA4	1	94471006	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	116290	94471006	154779615	790	2936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	798					0	0	1	0	0	C	94512539	T	C	94512539	3	2	22	1	0	0	0	0	1	0	0	0	34	1696	59	3	4095	3	ABCA4	1	94512539	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41533	94512539	154738082	791	2937											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	223					0	0	1	0	0	T	94514490	C	T	94514490	3	4	22	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	792	2938											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	124					0	0	1	0	0	T	94522198	C	T	94522198	3	4	22	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	793	2939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	219					0	0	1	0	0	G	94528169	A	G	94528169	3	3	22	1	0	0	0	0	1	0	0	0	34	304	11	3	5072	3	ABCA4	1	94528169	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5971	94528169	154722452	794	2940											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	441					0	0	1	0	0	T	94639786	C	T	94639786	3	4	22	1	0	0	0	0	1	0	0	0	875	652	23	1	364	1	ARHGAP29	1	94639786	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111617	94639786	154610835	795	2941											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	228					0	0	1	0	0	T	94643259	C	T	94643259	2	4	22	1	0	0	0	0	0	0	0	1	875	912	32	2		2	ARHGAP29	1	94643259	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3473	94643259	154607362	796	2942											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	216					0	0	1	0	0	A	94643433	T	A	94643433	3	1	22	1	0	0	0	0	1	0	0	0	875	1609	56	5	1026	5	ARHGAP29	1	94643433	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	174	94643433	154607188	797	2943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													132	495					0	0	1	0	0	A	94668169	G	A	94668169	2	1	22	1	0	0	0	0	0	0	0	1	875	1074	38	1		1	ARHGAP29	1	94668169	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24736	94668169	154582452	798	2944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	173					1.58986e-06	1.64048e-06	1	1	0	A	94670714	C	A	94670714	3	1	22	1	0	0	0	0	1	0	0	0	875	912	32	2	3253	2	ARHGAP29	1	94670714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2545	94670714	154579907	799	2945											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394233.2_Missense_Mutation_p.A279D|ABCD3_ENST00000536817.1_Missense_Mutation_p.A316D|ABCD3_ENST00000454898.2_Missense_Mutation_p.A413D	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													39	120					3.38236e-24	3.86174e-24	1	1	0	A	94955289	C	A	94955289	3	1	22	1	0	0	0	0	1	0	0	0	62	797	28	2	1251	2	ABCD3	1	94955289	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	284575	94955289	154295332	800	2946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394233.2_Silent_p.D459D|ABCD3_ENST00000536817.1_Silent_p.D496D|ABCD3_ENST00000454898.2_Silent_p.D593D	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													45	334					0	0	1	0	0	T	94965137	C	T	94965137	2	4	22	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	801	2947											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394202.4_Silent_p.G264G|CNN3_ENST00000545882.1_Silent_p.G269G|CNN3_ENST00000538964.1_Silent_p.G310G	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													48	696					0	0	1	0	0	A	95363358	G	A	95363358	2	1	22	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	802	2948											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394202.4_Missense_Mutation_p.R33H|CNN3_ENST00000545882.1_5'UTR|CNN3_ENST00000538964.1_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													71	289					0	0	1	0	0	T	95369040	C	T	95369040	3	4	22	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	803	2949											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:97217025G>A	ENST00000236228.6	+	3	166	c.84G>A	c.(82-84)ccG>ccA	p.P28P	PTBP2_ENST00000370197.1_Silent_p.P28P|PTBP2_ENST00000541987.1_5'UTR|PTBP2_ENST00000370198.1_Silent_p.P28P|PTBP2_ENST00000394184.3_Silent_p.P39P|PTBP2_ENST00000482253.1_Intron|PTBP2_ENST00000426398.2_Silent_p.P28P	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	28							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													169	635					0	0	1	0	0	A	97217025	G	A	97217025	2	1	22	1	0	0	0	0	0	0	0	1	12775	1045	37	1		1	PTBP2	1	97217025	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1847985	97217025	152033596	804	2950											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000101.2	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													31	192					0	0	1	0	0	G	97564175	A	G	97564175	3	3	22	1	0	0	0	0	1	0	0	0	4771	14	1	3	453	3	DPYD	1	97564175	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	347150	97564175	151686446	805	2951											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000101.2	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													210	796					0	0	1	0	0	T	97771751	C	T	97771751	3	4	22	1	0	0	0	0	1	0	0	0	4771	768	27	1	944	1	DPYD	1	97771751	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207576	97771751	151478870	806	2952											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000306121.3_Missense_Mutation_p.G224V|SNX7_ENST00000529992.1_Missense_Mutation_p.G169V			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													23	287					3.7963e-18	4.20509e-18	1	1	0	T	99161105	G	T	99161105	3	4	22	1	0	0	0	0	1	0	0	0	14961	1203	42	2	689	2	SNX7	1	99161105	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1389354	99161105	150089516	807	2953											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000306121.3_Missense_Mutation_p.N255T|SNX7_ENST00000529992.1_Missense_Mutation_p.N200T			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													67	269					0	0	1	0	0	C	99161198	A	C	99161198	3	2	22	1	0	0	0	0	1	0	0	0	14961	43	2	3	782	3	SNX7	1	99161198	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	93	99161198	150089423	808	2954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	LPPR5_ENST00000534652.1_5'UTR|RP5-896L10.1_ENST00000425113.1_RNA|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													10	91					0	0	1	0	0	G	99470004	A	G	99470004	3	3	22	1	0	0	0	0	1	0	0	0	8973	275	10	3	765	3	LPPR5	1	99470004	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	308806	99470004	149780617	809	2955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457765.1_Missense_Mutation_p.G310E|LPPR4_ENST00000370184.1_Missense_Mutation_p.G210E	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													45	407					0	0	1	0	0	A	99771377	G	A	99771377	3	1	22	1	0	0	0	0	1	0	0	0	8972	1174	41	2	1129	2	LPPR4	1	99771377	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	301373	99771377	149479244	810	2956											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457765.1_Missense_Mutation_p.P360L|LPPR4_ENST00000370184.1_Missense_Mutation_p.P260L	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													61	243					0	0	1	0	0	T	99771527	C	T	99771527	3	4	22	1	0	0	0	0	1	0	0	0	8972	652	23	1	1279	1	LPPR4	1	99771527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150	99771527	149479094	811	2957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	209					0	0	1	0	0	G	100155441	A	G	100155441	3	3	22	1	0	0	0	0	1	0	0	0	11458	290	10	3		3	PALMD	1	100155441	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	383914	100155441	149095180	812	2958											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370161.2_Missense_Mutation_p.L150R|AGL_ENST00000361302.3_Missense_Mutation_p.L150R|AGL_ENST00000370165.3_Missense_Mutation_p.L166R|AGL_ENST00000361915.3_Missense_Mutation_p.L166R|AGL_ENST00000361522.4_Missense_Mutation_p.L149R|AGL_ENST00000370163.3_Missense_Mutation_p.L166R	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													10	519					0	0	1	0	0	G	100329978	T	G	100329978	3	3	22	1	0	0	0	0	1	0	0	0	381	1609	56	3	580	3	AGL	1	100329978	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	174537	100329978	148920643	813	2959											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370161.2_Missense_Mutation_p.T770M|AGL_ENST00000361302.3_Missense_Mutation_p.T770M|AGL_ENST00000370165.3_Missense_Mutation_p.T786M|AGL_ENST00000361915.3_Missense_Mutation_p.T786M|AGL_ENST00000361522.4_Missense_Mutation_p.T769M|AGL_ENST00000370163.3_Missense_Mutation_p.T786M	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													20	216					0	0	1	0	0	T	100349724	C	T	100349724	3	4	22	1	0	0	0	0	1	0	0	0	381	536	19	1	2492	1	AGL	1	100349724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19746	100349724	148900897	814	2960											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370161.2_Missense_Mutation_p.R961Q|AGL_ENST00000361302.3_Missense_Mutation_p.R961Q|AGL_ENST00000370165.3_Missense_Mutation_p.R977Q|AGL_ENST00000361915.3_Missense_Mutation_p.R977Q|AGL_ENST00000361522.4_Missense_Mutation_p.R960Q|AGL_ENST00000370163.3_Missense_Mutation_p.R977Q	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													78	302					0	0	1	0	0	A	100356893	G	A	100356893	3	1	22	1	0	0	0	0	1	0	0	0	381	1058	37	1	3081	1	AGL	1	100356893	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7169	100356893	148893728	815	2961											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427993.2_Silent_p.G92G|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000370155.3_Silent_p.G92G|SLC35A3_ENST00000370153.1_Silent_p.G134G	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													24	263					4.4004e-07	4.55749e-07	1	1	0	T	100464905	G	T	100464905	2	4	22	1	0	0	0	0	0	0	0	1	14627	1161	41	2		2	SLC35A3	1	100464905	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108012	100464905	148785716	816	2962											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427993.2_Nonsense_Mutation_p.Q155*|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000370155.3_Nonsense_Mutation_p.Q155*|SLC35A3_ENST00000370153.1_Nonsense_Mutation_p.Q197*	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													22	253					0	0	1	0	0	T	100472710	C	T	100472710	4	4	22	1	0	0	0	0	0	1	0	0	14627	479	17	2	473	2	SLC35A3	1	100472710	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7805	100472710	148777911	817	2963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	678					0	0	1	0	0	A	100546193	G	A	100546193	3	1	22	1	0	0	0	0	1	0	0	0	7138	971	34	2	1286	2	HIAT1	1	100546193	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73483	100546193	148704428	818	2964											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	323					0	0	1	0	0	C	100624921	A	C	100624921	2	2	22	1	0	0	0	0	0	0	0	1	9040	233	9	3		3	LRRC39	1	100624921	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	78728	100624921	148625700	819	2965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544534.1_Missense_Mutation_p.A470V|CDC14A_ENST00000361544.6_Missense_Mutation_p.A470V|CDC14A_ENST00000542213.1_Missense_Mutation_p.A412V	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													38	510					0	0	1	0	0	T	100963751	C	T	100963751	3	4	22	1	0	0	0	0	1	0	0	0	3078	739	26	2	1478	2	CDC14A	1	100963751	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	338830	100963751	148286870	820	2966											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544534.1_Silent_p.N543N|CDC14A_ENST00000361544.6_Silent_p.N543N|CDC14A_ENST00000542213.1_Silent_p.N485N	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													39	295					0	0	1	0	0	T	100964692	C	T	100964692	2	4	22	1	0	0	0	0	0	0	0	1	3078	535	19	1		1	CDC14A	1	100964692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	941	100964692	148285929	821	2967											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000347652.2_Silent_p.A280A|VCAM1_ENST00000370119.4_Silent_p.A218A|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													21	224					0	0	1	0	0	C	101190358	T	C	101190358	2	2	22	1	0	0	0	0	0	0	0	1	17197	1509	53	3		3	VCAM1	1	101190358	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	225666	101190358	148060263	822	2968											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000347652.2_Intron|VCAM1_ENST00000370119.4_Silent_p.R260R|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													19	513					0	0	1	0	0	A	101194700	G	A	101194700	2	1	22	1	0	0	0	0	0	0	0	1	17197	1161	41	2		2	VCAM1	1	101194700	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4342	101194700	148055921	823	2969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370113.3_Missense_Mutation_p.S156I|EXTL2_ENST00000535414.1_Missense_Mutation_p.S143I	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													60	283					7.1157e-29	8.29994e-29	1	1	0	A	101342387	C	A	101342387	3	1	22	1	0	0	0	0	1	0	0	0	5354	797	28	2	533	2	EXTL2	1	101342387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147687	101342387	147908234	824	2970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370113.3_Missense_Mutation_p.A88D|EXTL2_ENST00000535414.1_Missense_Mutation_p.A75D	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													49	380					7.05377e-20	7.88546e-20	1	1	0	T	101343202	G	T	101343202	3	4	22	1	0	0	0	0	1	0	0	0	5354	971	34	2	741	2	EXTL2	1	101343202	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	815	101343202	147907419	825	2971											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	765					0	0	1	0	0	C	101377772	T	C	101377772	2	2	22	1	0	0	0	0	0	0	0	1	14615	1654	58	3		3	SLC30A7	1	101377772	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34570	101377772	147872849	826	2972											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	53	436					0	0	1	0	0	T	101705127	C	T	101705127	3	4	22	1	0	0	0	0	1	0	0	0	13845	652	23	1	589	1	S1PR1	1	101705127	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	327355	101705127	147545494	827	2973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000353414.4_Missense_Mutation_p.R1694H|COL11A1_ENST00000370096.3_Missense_Mutation_p.R1733H	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													27	341					0	0	1	0	0	T	103345315	C	T	103345315	3	4	22	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	828	2974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000353414.4_Nonsense_Mutation_p.Y235*|COL11A1_ENST00000370096.3_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													34	137					1.07637e-12	1.15814e-12	1	1	0	T	103496747	G	T	103496747	4	4	22	1	0	0	0	0	0	1	0	0	3690	1024	36	2	5124	2	COL11A1	1	103496747	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	151432	103496747	145753874	829	2975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000353414.4_Missense_Mutation_p.V129G|COL11A1_ENST00000370096.3_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													49	195					0	0	1	0	0	C	103544316	A	C	103544316	3	2	22	1	0	0	0	0	1	0	0	0	3690	43	2	3	5451	3	COL11A1	1	103544316	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47569	103544316	145706305	830	2976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	730					0	0	1	0	0	T	104160181	C	T	104160181	3	4	22	1	0	0	0	0	1	0	0	0	590	797	28	2	121	2	AMY2A	1	104160181	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	615865	104160181	145090440	831	2977											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	201					3.00063e-23	3.40875e-23	1	1	0	A	107599623	C	A	107599623	3	1	22	1	0	0	0	0	1	0	0	0	12592	912	32	2	288	2	PRMT6	1	107599623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3439442	107599623	141650998	832	2978											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370067.1_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370065.1_Silent_p.Q394Q|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000542803.1_Silent_p.Q394Q|NTNG1_ENST00000370073.2_Silent_p.Q394Q|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													13	133					0	0	1	0	0	A	107973466	G	A	107973466	2	1	22	1	0	0	0	0	0	0	0	1	10752	962	34	2		2	NTNG1	1	107973466	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	373843	107973466	141277155	833	2979											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	78					0	0	1	0	0	C	108742604	T	C	108742604	3	2	22	1	0	0	0	0	1	0	0	0	14542	1464	51	3	1446	3	SLC25A24	1	108742604	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	769138	108742604	140508017	834	2980											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370021.1_5'UTR|PRPF38B_ENST00000370022.5_Missense_Mutation_p.L58I	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													9	427					0.000274275	0.000278163	1	1	0	A	109235385	C	A	109235385	3	1	22	1	0	0	0	0	1	0	0	0	12620	681	24	2	174	2	PRPF38B	1	109235385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	492781	109235385	140015236	835	2981											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	388					5.01169e-05	5.1097e-05	1	1	0	A	109241798	C	A	109241798	3	1	22	1	0	0	0	0	1	0	0	0	12620	913	32	2	819	2	PRPF38B	1	109241798	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6413	109241798	140008823	836	2982											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	400					0	0	1	0	0	C	109241961	T	C	109241961	2	2	22	1	0	0	0	0	0	0	0	1	12620	1635	57	3		3	PRPF38B	1	109241961	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	163	109241961	140008660	837	2983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													119	419					0	0	1	0	0	A	109394773	G	A	109394773	3	1	22	1	0	0	0	0	1	0	0	0	461	1029	36	2	2056	2	AKNAD1	1	109394773	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152812	109394773	139855848	838	2984											
GPSM2	29899	broad.mit.edu	37	chr1	109440714	109440715	+	Frame_Shift_Ins	INS	-	-	T													gctctgcaggcagccgtggaINStttttatgagtgagtagggg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109440714_109440715insT	ENST00000406462.1	+	6	1321_1322	c.548_549insT	c.(547-549)gttfs	p.V183fs	GPSM2_ENST00000264126.3_Frame_Shift_Ins_p.V183fs|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	183					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)		GCAGCCGTGGATTTTTATGAGT	0.455													37	414	---	---	---	---						T	109440715	-	T	109440714	7	5	22	1	0	1	1	0	0	0	0	0	6776	333	12	0	562	0	GPSM2	1	109440714	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	45941	109440714	139809907	839	2985											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369965.4_Missense_Mutation_p.V571A|WDR47_ENST00000361054.3_Missense_Mutation_p.V542A|WDR47_ENST00000369962.3_Missense_Mutation_p.V570A|WDR47_ENST00000400794.3_Missense_Mutation_p.V578A			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													30	316					0	0	1	0	0	G	109533934	A	G	109533934	3	3	22	1	0	0	0	0	1	0	0	0	17360	275	10	3	1078	3	WDR47	1	109533934	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	93220	109533934	139716687	840	2986											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369965.4_Missense_Mutation_p.G394D|WDR47_ENST00000361054.3_Missense_Mutation_p.G365D|WDR47_ENST00000369962.3_Missense_Mutation_p.G393D|WDR47_ENST00000400794.3_Missense_Mutation_p.G401D			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													75	723					0	0	1	0	0	T	109547290	C	T	109547290	3	4	22	1	0	0	0	0	1	0	0	0	17360	739	26	2	1621	2	WDR47	1	109547290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13356	109547290	139703331	841	2987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369965.4_Missense_Mutation_p.E167D|WDR47_ENST00000361054.3_Missense_Mutation_p.E139D|WDR47_ENST00000369962.3_Missense_Mutation_p.E167D|WDR47_ENST00000400794.3_Missense_Mutation_p.E174D			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													106	980					3.17287e-45	3.88899e-45	1	1	0	A	109554167	C	A	109554167	3	1	22	1	0	0	0	0	1	0	0	0	17360	680	24	2	2305	2	WDR47	1	109554167	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6877	109554167	139696454	842	2988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_065826.2	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													27	272					0	0	1	0	0	A	109714519	G	A	109714519	3	1	22	1	0	0	0	0	1	0	0	0	8265	1087	38	1	513	1	KIAA1324	1	109714519	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	160352	109714519	139536102	843	2989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	279					0	0	1	0	0	A	109793139	G	A	109793139	2	1	22	1	0	0	0	0	0	0	0	1	3244	1020	36	2		2	CELSR2	1	109793139	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78620	109793139	139457482	844	2990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	281					0	0	1	0	0	T	109794810	C	T	109794810	2	4	22	1	0	0	0	0	0	0	0	1	3244	639	23	1		1	CELSR2	1	109794810	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1671	109794810	139455811	845	2991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	225					0	0	1	0	0	A	109795960	G	A	109795960	3	1	22	1	0	0	0	0	1	0	0	0	3244	1087	38	1	3261	1	CELSR2	1	109795960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1150	109795960	139454661	846	2992											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	177					0	0	1	0	0	T	109808459	C	T	109808459	3	4	22	1	0	0	0	0	1	0	0	0	3244	855	30	2	5884	2	CELSR2	1	109808459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12499	109808459	139442162	847	2993											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	196					0	0	1	0	0	T	109811248	C	T	109811248	3	4	22	1	0	0	0	0	1	0	0	0	3244	759	27	1	6434	1	CELSR2	1	109811248	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2789	109811248	139439373	848	2994											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	261					0	0	1	0	0	A	109811858	G	A	109811858	3	1	22	1	0	0	0	0	1	0	0	0	3244	1087	38	1	6836	1	CELSR2	1	109811858	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	610	109811858	139438763	849	2995											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	302					0	0	1	0	0	T	109815515	C	T	109815515	3	4	22	1	0	0	0	0	1	0	0	0	3244	739	26	2	8326	2	CELSR2	1	109815515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3657	109815515	139435106	850	2996											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	432					0	0	1	0	0	A	109859483	G	A	109859483	3	1	22	1	0	0	0	0	1	0	0	0	14989	1174	41	2	272	2	SORT1	1	109859483	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43968	109859483	139391138	851	2997											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538610.1_Nonsense_Mutation_p.W42*|PSMA5_ENST00000490870.1_5'UTR	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													19	249					0	0	1	0	0	T	109954798	C	T	109954798	4	4	22	1	0	0	0	0	0	1	0	0	12719	508	18	2	445	2	PSMA5	1	109954798	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95315	109954798	139295823	852	2998											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	330					1.37285e-15	1.50199e-15	1	1	0	A	110031538	C	A	110031538	3	1	22	1	0	0	0	0	1	0	0	0	1215	796	28	2	879	2	ATXN7L2	1	110031538	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76740	110031538	139219083	853	2999											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	41					0	0	1	0	0	T	110051532	C	T	110051532	1	4	22	1	0	0	0	0	0	0	0	0	571	710	25	2		2	AMIGO1	1	110051532	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19994	110051532	139199089	854	3000											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													140	562					0	0	1	0	0	A	110085846	G	A	110085846	3	1	22	1	0	0	0	0	1	0	0	0	6742	1087	38	1	204	1	GPR61	1	110085846	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34314	110085846	139164775	855	3001											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	203					0	0	1	0	0	A	110116530	G	A	110116530	2	1	22	1	0	0	0	0	0	0	0	1	6548	991	35	2		2	GNAI3	1	110116530	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30684	110116530	139134091	856	3002											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442650.1_Missense_Mutation_p.R43K|GSTM2_ENST00000369829.2_Missense_Mutation_p.R43K|GSTM2_ENST00000460717.3_Missense_Mutation_p.R43K|GSTM2_ENST00000369827.3_Missense_Mutation_p.R41K|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000241337.4_Missense_Mutation_p.R43K|GSTM2_ENST00000414179.2_5'UTR					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													66	236					0	0	1	0	0	A	110211562	G	A	110211562	3	1	22	1	0	0	0	0	1	0	0	0	6879	942	33	2	138	2	GSTM2	1	110211562	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95032	110211562	139039059	857	3003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Missense_Mutation_p.S445N	NM_133181.3|NM_139053.2	NP_573444.2|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													191	778					0	0	1	0	0	T	110294717	C	T	110294717	3	4	22	1	0	0	0	0	1	0	0	0	5225	797	28	2	467	2	EPS8L3	1	110294717	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83155	110294717	138955904	858	3004											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420111.2_Intron|CSF1_ENST00000369802.3_Missense_Mutation_p.P253S|CSF1_ENST00000344188.5_Missense_Mutation_p.P253S|CSF1_ENST00000369801.1_Missense_Mutation_p.P253S	NM_000757.5|NM_172211.3	NP_000748.3|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)	52	339					0	0	1	0	0	T	110466000	C	T	110466000	3	4	22	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	859	3005											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359172.3_Missense_Mutation_p.T135P|AHCYL1_ENST00000475081.1_3'UTR	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													31	128					0	0	1	0	0	C	110555585	A	C	110555585	3	2	22	1	0	0	0	0	1	0	0	0	407	43	2	3	562	3	AHCYL1	1	110555585	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	89585	110555585	138695036	860	3006											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	643					1.80625e-27	2.09175e-27	1	1	0	A	110716645	C	A	110716645	2	1	22	1	0	0	0	0	0	0	0	1	14735	903	32	2		2	SLC6A17	1	110716645	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161060	110716645	138533976	861	3007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	441					0	0	1	0	0	T	110719341	C	T	110719341	2	4	22	1	0	0	0	0	0	0	0	1	14735	680	24	2		2	SLC6A17	1	110719341	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2696	110719341	138531280	862	3008											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	301					0	0	1	0	0	A	110738297	G	A	110738297	3	1	22	1	0	0	0	0	1	0	0	0	14735	1203	42	2	1616	2	SLC6A17	1	110738297	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18956	110738297	138512324	863	3009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	482					0	0	1	0	0	A	110741029	G	A	110741029	3	1	22	1	0	0	0	0	1	0	0	0	14735	1203	42	2	2189	2	SLC6A17	1	110741029	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2732	110741029	138509592	864	3010											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	283					0	0	1	0	0	T	110766034	C	T	110766034	3	4	22	1	0	0	0	0	1	0	0	0	8061	739	26	2	1133	2	KCNC4	1	110766034	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25005	110766034	138484587	865	3011											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	227					0	0	1	0	0	A	110766507	G	A	110766507	3	1	22	1	0	0	0	0	1	0	0	0	8061	1059	37	1	1606	1	KCNC4	1	110766507	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	473	110766507	138484114	866	3012											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000602849.1_Silent_p.D101D|RBM15_ENST00000487146.2_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)	10	178					0	0	1	0	0	T	110882330	C	T	110882330	2	4	22	1	0	0	0	0	0	0	0	1	13168	477	17	2		2	RBM15	1	110882330	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115823	110882330	138368291	867	3013											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000602849.1_Missense_Mutation_p.A185V|RBM15_ENST00000487146.2_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)	51	392					0	0	1	0	0	T	110882581	C	T	110882581	3	4	22	1	0	0	0	0	1	0	0	0	13168	768	27	1	556	1	RBM15	1	110882581	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	251	110882581	138368040	868	3014											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000602849.1_Nonsense_Mutation_p.R717*|RBM15_ENST00000487146.2_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								28	342					0	0	1	0	0	T	110884176	C	T	110884176	4	4	22	1	0	0	0	0	0	1	0	0	13168	760	27	1	2151	1	RBM15	1	110884176	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1595	110884176	138366445	869	3015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	413					6.14515e-18	6.80267e-18	1	1	0	T	111060647	G	T	111060647	3	4	22	1	0	0	0	0	1	0	0	0	8046	942	33	2	776	2	KCNA10	1	111060647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	176471	111060647	138189974	870	3016											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	223					0	0	1	0	0	A	111060769	G	A	111060769	3	1	22	1	0	0	0	0	1	0	0	0	8046	971	34	2	898	2	KCNA10	1	111060769	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122	111060769	138189852	871	3017											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	256					0	0	1	0	0	C	111060913	A	C	111060913	3	2	22	1	0	0	0	0	1	0	0	0	8046	333	12	3	1042	3	KCNA10	1	111060913	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	144	111060913	138189708	872	3018											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	226					0	0	1	0	0	T	111216054	C	T	111216054	3	4	22	1	0	0	0	0	1	0	0	0	8048	478	17	2	353	2	KCNA3	1	111216054	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155141	111216054	138034567	873	3019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	510					0	0	1	0	0	A	111216303	G	A	111216303	2	1	22	1	0	0	0	0	0	0	0	1	8048	962	34	2		2	KCNA3	1	111216303	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249	111216303	138034318	874	3020											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	422					0	0	1	0	0	T	111690517	C	T	111690517	3	4	22	1	0	0	0	0	1	0	0	0	3286	527	19	1	183	1	CEPT1	1	111690517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	474214	111690517	137560104	875	3021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Missense_Mutation_p.A179T	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													53	255					0	0	1	0	0	T	111738639	C	T	111738639	3	4	22	1	0	0	0	0	1	0	0	0	4459	739	26	2	899	2	DENND2D	1	111738639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48122	111738639	137511982	876	3022											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	257					0	0	1	0	0	A	111966237	G	A	111966237	2	1	22	1	0	0	0	0	0	0	0	1	11372	1252	44	2		2	OVGP1	1	111966237	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227598	111966237	137284384	877	3023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	217					0	0	1	0	0	T	111984012	C	T	111984012	5	4	22	1	0	0	0	0	0	0	1	0	17387	695	24	2	163	2	WDR77	1	111984012	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17775	111984012	137266609	878	3024											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000483994.1_Silent_p.V99V|ATP5F1_ENST00000369721.4_3'UTR	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													67	594					0	0	1	0	0	G	111999344	T	G	111999344	2	3	22	1	0	0	0	0	0	0	0	1	1151	1770	62	3		3	ATP5F1	1	111999344	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15332	111999344	137251277	879	3025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	330					6.29468e-14	6.81746e-14	1	1	0	A	112020639	C	A	112020639	3	1	22	1	0	0	0	0	1	0	0	0	2023	739	26	2	380	2	C1orf162	1	112020639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21295	112020639	137229982	880	3026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Missense_Mutation_p.E19K	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													16	124					0	0	1	0	0	T	112045922	C	T	112045922	3	4	22	1	0	0	0	0	1	0	0	0	328	864	30	2	1623	2	ADORA3	1	112045922	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25283	112045922	137204699	881	3027											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	303					0	0	1	0	0	A	112309448	G	A	112309448	3	1	22	1	0	0	0	0	1	0	0	0	4371	942	33	2	2444	2	DDX20	1	112309448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263526	112309448	136941173	882	3028											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	191					1.96642e-18	2.182e-18	1	1	0	T	112524699	G	T	112524699	3	4	22	1	0	0	0	0	1	0	0	0	8064	1116	39	4	1345	4	KCND3	1	112524699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215251	112524699	136725922	883	3029											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	382					0	0	1	0	0	T	112998846	C	T	112998846	2	4	22	1	0	0	0	0	0	0	0	1	4070	874	31	1		1	CTTNBP2NL	1	112998846	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	474147	112998846	136251775	884	3030											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113059749C>T	ENST00000369684.4	+	4	1173	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	WNT2B_ENST00000369686.4_Missense_Mutation_p.R211W|WNT2B_ENST00000256640.5_Missense_Mutation_p.R138W	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	230					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													84	312					0	0	1	0	0	T	113059749	C	T	113059749	3	4	22	1	0	0	0	0	1	0	0	0	17447	759	27	1	835	1	WNT2B	1	113059749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60903	113059749	136190872	885	3031											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113059807G>A	ENST00000369684.4	+	4	1231	c.746G>A	c.(745-747)cGc>cAc	p.R249H	WNT2B_ENST00000369686.4_Missense_Mutation_p.R230H|WNT2B_ENST00000256640.5_Missense_Mutation_p.R157H	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	249					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													69	288					0	0	1	0	0	A	113059807	G	A	113059807	3	1	22	1	0	0	0	0	1	0	0	0	17447	1087	38	1	893	1	WNT2B	1	113059807	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58	113059807	136190814	886	3032											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544629.1_Missense_Mutation_p.L381I|ST7L_ENST00000543570.1_Intron|ST7L_ENST00000538187.1_Missense_Mutation_p.L390I|ST7L_ENST00000490067.1_Missense_Mutation_p.L429I|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000369668.2_Missense_Mutation_p.L446I|ST7L_ENST00000369666.1_Missense_Mutation_p.L429I|ST7L_ENST00000369669.1_Missense_Mutation_p.L263I|ST7L_ENST00000360743.4_Missense_Mutation_p.L446I|ST7L_ENST00000343210.7_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													41	369					6.2361e-21	7.00342e-21	1	1	0	T	113098550	G	T	113098550	3	4	22	1	0	0	0	0	1	0	0	0	15286	942	33	2	446	2	ST7L	1	113098550	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38743	113098550	136152071	887	3033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113232719C>T	ENST00000369644.1	+	6	1696	c.668_splice	c.e6+1	p.R223_splice	MOV10_ENST00000369645.1_Splice_Site_p.R279_splice|MOV10_ENST00000357443.2_Splice_Site_p.R279_splice|MOV10_ENST00000413052.2_Splice_Site_p.R279_splice|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													80	296					0	0	1	0	0	T	113232719	C	T	113232719	5	4	22	1	0	0	0	0	0	0	1	0	9767	666	23	1	849	1	MOV10	1	113232719	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134169	113232719	136017902	888	3034											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Missense_Mutation_p.R586H|MOV10_ENST00000357443.2_Missense_Mutation_p.R586H|MOV10_ENST00000413052.2_Missense_Mutation_p.R586H|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													18	136					0	0	1	0	0	A	113238174	G	A	113238174	3	1	22	1	0	0	0	0	1	0	0	0	9767	1087	38	1	1795	1	MOV10	1	113238174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5455	113238174	136012447	889	3035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Missense_Mutation_p.D645N|MOV10_ENST00000357443.2_Missense_Mutation_p.D645N|MOV10_ENST00000413052.2_Missense_Mutation_p.D645N|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													59	490					0	0	1	0	0	A	113239108	G	A	113239108	3	1	22	1	0	0	0	0	1	0	0	0	9767	1058	37	1	1979	1	MOV10	1	113239108	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	934	113239108	136011513	890	3036											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113242307G>A	ENST00000369644.1	+	19	3445	c.2415_splice	c.e19-1	p.V806_splice	MOV10_ENST00000369645.1_Splice_Site_p.V862_splice|MOV10_ENST00000357443.2_Splice_Site_p.V862_splice|MOV10_ENST00000413052.2_Splice_Site_p.V862_splice|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													60	491					0	0	1	0	0	A	113242307	G	A	113242307	5	1	22	1	0	0	0	0	0	0	1	0	9767	1275	44	2	2650	2	MOV10	1	113242307	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3199	113242307	136008314	891	3037											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357443.2_Nonsense_Mutation_p.R882*|MOV10_ENST00000413052.2_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													95	818					0	0	1	0	0	T	113242367	C	T	113242367	4	4	22	1	0	0	0	0	0	1	0	0	9767	760	27	1	2710	1	MOV10	1	113242367	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	113242367	136008254	892	3038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357443.2_Missense_Mutation_p.D979E|MOV10_ENST00000413052.2_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													39	256					1.59361e-14	1.73214e-14	1	1	0	A	113243054	C	A	113243054	3	1	22	1	0	0	0	0	1	0	0	0	9767	564	20	2	3015	2	MOV10	1	113243054	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	687	113243054	136007567	893	3039											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000478835.1_5'UTR|SLC16A1_ENST00000433570.4_Silent_p.I30I|SLC16A1_ENST00000369626.3_Silent_p.I30I	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													15	203					0	0	1	0	0	A	113471841	G	A	113471841	2	1	22	1	0	0	0	0	0	0	0	1	14457	1048	37	1		1	SLC16A1	1	113471841	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	228787	113471841	135778780	894	3040											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113655143G>A	ENST00000361127.4	+	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	614	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													134	463					0	0	1	0	0	A	113655143	G	A	113655143	3	1	22	1	0	0	0	0	1	0	0	0	8990	1087	38	1	1895	1	LRIG2	1	113655143	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183302	113655143	135595478	895	3041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113657135C>A	ENST00000361127.4	+	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	723	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													29	286					2.12542e-12	2.28249e-12	1	1	0	A	113657135	C	A	113657135	3	1	22	1	0	0	0	0	1	0	0	0	8990	855	30	2	2225	2	LRIG2	1	113657135	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1992	113657135	135593486	896	3042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113662141C>T	ENST00000361127.4	+	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	989						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													26	172					0	0	1	0	0	T	113662141	C	T	113662141	2	4	22	1	0	0	0	0	0	0	0	1	8990	767	27	1		1	LRIG2	1	113662141	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5006	113662141	135588480	897	3043											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113666508C>T	ENST00000361127.4	+	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	995						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													30	107					0	0	1	0	0	T	113666508	C	T	113666508	3	4	22	1	0	0	0	0	1	0	0	0	8990	759	27	1	3053	1	LRIG2	1	113666508	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4367	113666508	135584113	898	3044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369611.4_Missense_Mutation_p.E621D|MAGI3_ENST00000307546.9_Missense_Mutation_p.E621D|MAGI3_ENST00000369617.4_Missense_Mutation_p.E646D	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													47	252					0	0	1	0	0	C	114185035	A	C	114185035	3	2	22	1	0	0	0	0	1	0	0	0	9242	11	1	3	1901	3	MAGI3	1	114185035	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	518527	114185035	135065586	899	3045											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369611.4_Silent_p.F862F|MAGI3_ENST00000307546.9_Silent_p.F862F|MAGI3_ENST00000369617.4_Silent_p.F887F	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													35	1215					0	0	1	0	0	C	114196597	T	C	114196597	2	2	22	1	0	0	0	0	0	0	0	1	9242	1809	63	3		3	MAGI3	1	114196597	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11562	114196597	135054024	900	3046											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369611.4_Silent_p.G1030G|MAGI3_ENST00000307546.9_Silent_p.G1030G|MAGI3_ENST00000369617.4_Silent_p.G1055G	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													98	428					0	0	1	0	0	T	114215988	C	T	114215988	2	4	22	1	0	0	0	0	0	0	0	1	9242	784	28	2		2	MAGI3	1	114215988	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19391	114215988	135034633	901	3047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357783.2_Missense_Mutation_p.R260H|PHTF1_ENST00000369596.2_Missense_Mutation_p.R207H|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369598.1_Missense_Mutation_p.R215H|PHTF1_ENST00000369600.1_Missense_Mutation_p.R207H|PHTF1_ENST00000393357.2_Missense_Mutation_p.R260H|PHTF1_ENST00000447664.2_Intron			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													58	425					0	0	1	0	0	T	114255905	C	T	114255905	3	4	22	1	0	0	0	0	1	0	0	0	11910	536	19	1	1557	1	PHTF1	1	114255905	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39917	114255905	134994716	902	3048											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	96					0	0	1	0	0	T	114340180	C	T	114340180	2	4	22	1	0	0	0	0	0	0	0	1	13748	564	20	2		2	RSBN1	1	114340180	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84275	114340180	134910441	903	3049											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538253.1_5'UTR|PTPN22_ENST00000534519.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000528414.1_Missense_Mutation_p.A25T|PTPN22_ENST00000525799.1_Missense_Mutation_p.A25T|PTPN22_ENST00000420377.2_Missense_Mutation_p.A25T|PTPN22_ENST00000460620.1_Missense_Mutation_p.A25T	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	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													73	313					0	0	1	0	0	T	114414173	C	T	114414173	3	4	22	1	0	0	0	0	1	0	0	0	12839	710	25	2	2457	2	PTPN22	1	114414173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73993	114414173	134836448	904	3050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	BCL2L15_ENST00000393320.3_Intron|AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000471267.1_Silent_p.G61G|BCL2L15_ENST00000488450.1_Intron	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													41	192					0	0	1	0	0	G	114429225	A	G	114429225	2	3	22	1	0	0	0	0	0	0	0	1	1371	146	6	3		3	BCL2L15	1	114429225	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15052	114429225	134821396	905	3051											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.T248I|AP4B1_ENST00000256658.4_Missense_Mutation_p.T416I|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													50	204					0	0	1	0	0	A	114440517	G	A	114440517	3	1	22	1	0	0	0	0	1	0	0	0	747	1029	36	2	988	2	AP4B1	1	114440517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11292	114440517	134810104	906	3052											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Missense_Mutation_p.Q209H|AP4B1_ENST00000369567.1_Missense_Mutation_p.Q134H|AP4B1_ENST00000256658.4_Missense_Mutation_p.Q302H	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													12	550					0.00010058	0.000102273	1	1	0	A	114442734	C	A	114442734	3	1	22	1	0	0	0	0	1	0	0	0	747	912	32	2	1337	2	AP4B1	1	114442734	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2217	114442734	134807887	907	3053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Missense_Mutation_p.L146M|AP4B1_ENST00000369567.1_Missense_Mutation_p.L71M|AP4B1_ENST00000256658.4_Missense_Mutation_p.L239M	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													36	302					2.51541e-25	2.88513e-25	1	1	0	T	114442925	G	T	114442925	3	4	22	1	0	0	0	0	1	0	0	0	747	933	33	2	1528	2	AP4B1	1	114442925	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191	114442925	134807696	908	3054											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369566.3_Intron|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000256658.4_Silent_p.L187L	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													88	339					0	0	1	0	0	A	114443916	G	A	114443916	2	1	22	1	0	0	0	0	0	0	0	1	747	933	33	2		2	AP4B1	1	114443916	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	991	114443916	134806705	909	3055											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369566.3_Missense_Mutation_p.T89M|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000256658.4_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													31	267					0	0	1	0	0	A	114445332	G	A	114445332	3	1	22	1	0	0	0	0	1	0	0	0	747	1145	40	1	1989	1	AP4B1	1	114445332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1416	114445332	134805289	910	3056											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	49	226					0	0	1	0	0	T	114448377	C	T	114448377	3	4	22	1	0	0	0	0	1	0	0	0	4318	681	24	2	171	2	DCLRE1B	1	114448377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3045	114448377	134802244	911	3057											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					16	337					4.7546e-09	4.99022e-09	1	1	0	A	114454079	C	A	114454079	3	1	22	1	0	0	0	0	1	0	0	0	4318	564	20	2	879	2	DCLRE1B	1	114454079	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5702	114454079	134796542	912	3058											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369554.2_Missense_Mutation_p.T151N|HIPK1_ENST00000369555.2_Missense_Mutation_p.T151N|HIPK1_ENST00000369559.4_Missense_Mutation_p.T151N|HIPK1_ENST00000369561.4_Missense_Mutation_p.T151N|HIPK1_ENST00000426820.2_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													50	223					1.47857e-17	1.63348e-17	1	1	0	A	114483457	C	A	114483457	3	1	22	1	0	0	0	0	1	0	0	0	7157	565	20	2	454	2	HIPK1	1	114483457	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29378	114483457	134767164	913	3059											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450349.2_Missense_Mutation_p.S503L|TRIM33_ENST00000369543.2_Missense_Mutation_p.S871L|TRIM33_ENST00000476908.1_5'UTR	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								181	627					0	0	1	0	0	A	114948188	G	A	114948188	3	1	22	1	0	0	0	0	1	0	0	0	16568	1059	37	1	795	1	TRIM33	1	114948188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	464731	114948188	134302433	914	3060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450349.2_Silent_p.Q121Q|TRIM33_ENST00000369543.2_Silent_p.Q513Q	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								170	715					0	0	1	0	0	T	114968227	C	T	114968227	2	4	22	1	0	0	0	0	0	0	0	1	16568	796	28	2		2	TRIM33	1	114968227	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20039	114968227	134282394	915	3061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			30	212					0	0	1	0	0	A	115252229	G	A	115252229	2	1	22	1	0	0	0	0	0	0	0	1	10688	1140	40	1		1	NRAS	1	115252229	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	284002	115252229	133998392	916	3062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115263337G>A	ENST00000438362.2	-	17	2391	c.2011_splice	c.e17-1	p.G671_splice	CSDE1_ENST00000534699.1_Splice_Site_p.G625_splice|CSDE1_ENST00000358528.4_Splice_Site_p.G625_splice|CSDE1_ENST00000530886.1_Splice_Site_p.G495_splice|CSDE1_ENST00000261443.5_Splice_Site_p.G594_splice|CSDE1_ENST00000369530.1_Splice_Site_p.G640_splice|CSDE1_ENST00000339438.6_Splice_Site_p.G594_splice	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													51	221					0	0	1	0	0	A	115263337	G	A	115263337	5	1	22	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	917	3063											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534699.1_Silent_p.A474A|CSDE1_ENST00000358528.4_Silent_p.A474A|CSDE1_ENST00000530886.1_Silent_p.A344A|CSDE1_ENST00000261443.5_Silent_p.A443A|CSDE1_ENST00000369530.1_Silent_p.A489A|CSDE1_ENST00000339438.6_Silent_p.A443A	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													63	247					0	0	1	0	0	A	115269646	G	A	115269646	2	1	22	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	918	3064											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115272879C>A	ENST00000438362.2	-	12	1872	c.1494_splice	c.e12+1	p.K498_splice	CSDE1_ENST00000534699.1_Splice_Site_p.K452_splice|CSDE1_ENST00000358528.4_Splice_Site_p.K452_splice|CSDE1_ENST00000530886.1_Splice_Site_p.K322_splice|CSDE1_ENST00000261443.5_Splice_Site_p.K421_splice|CSDE1_ENST00000369530.1_Splice_Site_p.K467_splice|CSDE1_ENST00000339438.6_Splice_Site_p.K421_splice	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													36	398					9.78485e-24	1.11444e-23	1	1	0	A	115272879	C	A	115272879	5	1	22	1	0	0	0	0	0	0	1	0	3954	695	24	2	1076	2	CSDE1	1	115272879	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3233	115272879	133977742	919	3065											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534699.1_Silent_p.S422S|CSDE1_ENST00000358528.4_Silent_p.S422S|CSDE1_ENST00000530886.1_Silent_p.S292S|CSDE1_ENST00000261443.5_Silent_p.S391S|CSDE1_ENST00000369530.1_Silent_p.S437S|CSDE1_ENST00000339438.6_Silent_p.S391S	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													84	334					0	0	1	0	0	A	115272969	G	A	115272969	2	1	22	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	920	3066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534699.1_Missense_Mutation_p.V316A|CSDE1_ENST00000358528.4_Missense_Mutation_p.V316A|CSDE1_ENST00000530886.1_Missense_Mutation_p.V186A|CSDE1_ENST00000261443.5_Missense_Mutation_p.V285A|CSDE1_ENST00000369530.1_Missense_Mutation_p.V331A|CSDE1_ENST00000339438.6_Missense_Mutation_p.V285A	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													21	559					0	0	1	0	0	G	115275328	A	G	115275328	3	3	22	1	0	0	0	0	1	0	0	0	3954	43	2	3	1493	3	CSDE1	1	115275328	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2359	115275328	133975293	921	3067											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369515.2_Nonsense_Mutation_p.R93*|TSPAN2_ENST00000369514.2_Nonsense_Mutation_p.R118*	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													159	545					0	0	1	0	0	A	115601596	G	A	115601596	4	1	22	1	0	0	0	0	0	1	0	0	16705	1124	39	1	329	1	TSPAN2	1	115601596	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	326268	115601596	133649025	922	3068											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	151					0	0	1	0	0	T	115829086	C	T	115829086	3	4	22	1	0	0	0	0	1	0	0	0	10442	710	25	2	398	2	NGF	1	115829086	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227490	115829086	133421535	923	3069											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	327					0	0	1	0	0	A	115829359	G	A	115829359	3	1	22	1	0	0	0	0	1	0	0	0	10442	1261	44	2	671	2	NGF	1	115829359	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	273	115829359	133421262	924	3070											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000310260.3_Missense_Mutation_p.P449L|VANGL1_ENST00000369510.3_Missense_Mutation_p.P447L	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													40	211					0	0	1	0	0	T	116233771	C	T	116233771	3	4	22	1	0	0	0	0	1	0	0	0	17179	623	22	2	1372	2	VANGL1	1	116233771	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	404412	116233771	133016850	925	3071											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	85					0	0	1	0	0	T	116562216	C	T	116562216	3	4	22	1	0	0	0	0	1	0	0	0	14501	739	26	2	324	2	SLC22A15	1	116562216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	328445	116562216	132688405	926	3072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	312					0	0	1	0	0	G	116577810	T	G	116577810	3	3	22	1	0	0	0	0	1	0	0	0	14501	1841	64	3	973	3	SLC22A15	1	116577810	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15594	116577810	132672811	927	3073											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	393					9.31168e-06	9.55451e-06	1	1	0	T	116930090	G	T	116930090	4	4	22	1	0	0	0	0	0	1	0	0	1127	943	33	2	394	2	ATP1A1	1	116930090	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	352280	116930090	132320531	928	3074											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	186					0	0	1	0	0	A	116943830	G	A	116943830	3	1	22	1	0	0	0	0	1	0	0	0	1127	1058	37	1	2891	1	ATP1A1	1	116943830	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13740	116943830	132306791	929	3075											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369487.3_Nonsense_Mutation_p.R152*|CD58_ENST00000369489.5_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													44	170					0	0	1	0	0	A	117078761	G	A	117078761	4	1	22	1	0	0	0	0	0	1	0	0	3047	1066	37	1	318	1	CD58	1	117078761	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134931	117078761	132171860	930	3076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369483.1_Missense_Mutation_p.F1148S|IGSF3_ENST00000318837.6_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													51	216					0	0	1	0	0	G	117120136	A	G	117120136	3	3	22	1	0	0	0	0	1	0	0	0	7645	246	9	3	205	3	IGSF3	1	117120136	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41375	117120136	132130485	931	3077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369483.1_Missense_Mutation_p.Y31H|IGSF3_ENST00000318837.6_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													22	189					0	0	1	0	0	G	117159032	A	G	117159032	3	3	22	1	0	0	0	0	1	0	0	0	7645	391	14	3	3593	3	IGSF3	1	117159032	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	38896	117159032	132091589	932	3078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	334					0	0	1	0	0	G	117297122	T	G	117297122	3	3	22	1	0	0	0	0	1	0	0	0	3001	1841	64	3	10	3	CD2	1	117297122	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	138090	117297122	131953499	933	3079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	463					0	0	1	0	0	T	117297274	C	T	117297274	3	4	22	1	0	0	0	0	1	0	0	0	3001	536	19	1	89	1	CD2	1	117297274	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152	117297274	131953347	934	3080											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	267					0	0	1	0	0	C	117556224	T	C	117556224	2	2	22	1	0	0	0	0	0	0	0	1	2984	1664	58	3		3	CD101	1	117556224	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	258950	117556224	131694397	935	3081											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-27K13.3_ENST00000445523.1_RNA|CD101_ENST00000369470.1_Silent_p.E930E	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													41	228					0	0	1	0	0	A	117568492	G	A	117568492	2	1	22	1	0	0	0	0	0	0	0	1	2984	1020	36	2		2	CD101	1	117568492	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12268	117568492	131682129	936	3082											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117618864A>C	ENST00000369466.3	+	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	446					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													45	185					0	0	1	0	0	C	117618864	A	C	117618864	3	2	22	1	0	0	0	0	1	0	0	0	16781	11	1	3	1360	3	TTF2	1	117618864	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	50372	117618864	131631757	937	3083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	337					5.90632e-09	6.19411e-09	1	1	0	A	117658224	C	A	117658224	3	1	22	1	0	0	0	0	1	0	0	0	16581	624	22	2	314	2	TRIM45	1	117658224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39360	117658224	131592397	938	3084											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000463461.1_5'UTR|VTCN1_ENST00000539893.1_Missense_Mutation_p.F96L|VTCN1_ENST00000359008.4_Missense_Mutation_p.F194L|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													37	400					4.65686e-17	5.13078e-17	1	1	0	T	117695864	G	T	117695864	3	4	22	1	0	0	0	0	1	0	0	0	17294	933	33	2	283	2	VTCN1	1	117695864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37640	117695864	131554757	939	3085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	238					0	0	1	0	0	A	117945040	G	A	117945040	3	1	22	1	0	0	0	0	1	0	0	0	9261	943	33	2	541	2	MAN1A2	1	117945040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249176	117945040	131305581	940	3086											
FAM46C	54855	broad.mit.edu	37	chr1	118166379	118166379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaccttcaaaaccacttcGctgaagaagagagaagcaag	8	10	1	4	rs149654076	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118166379G>A	ENST00000369448.3	+	2	1136	c.889G>A	c.(889-891)Gct>Act	p.A297T		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	297										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		AAACCACTTCGCTGAAGAAGA	0.512			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			49	197					0	0	1	0	0	A	118166379	G	A	118166379	3	1	22	1	0	0	0	0	1	0	0	0	5603	1087	38	1	891	1	FAM46C	1	118166379	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	221339	118166379	131084242	941	3087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118441693G>T	ENST00000369443.4	-	7	1031	c.782C>A	c.(781-783)cCt>cAt	p.P261H	GDAP2_ENST00000464026.1_5'UTR|GDAP2_ENST00000369442.3_Missense_Mutation_p.P261H	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	261										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													62	593					3.07184e-27	3.5546e-27	1	1	0	T	118441693	G	T	118441693	3	4	22	1	0	0	0	0	1	0	0	0	6350	1000	35	2	788	2	GDAP2	1	118441693	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275314	118441693	130808928	942	3088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118441835T>C	ENST00000369443.4	-	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	214	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													52	424					0	0	1	0	0	C	118441835	T	C	118441835	3	2	22	1	0	0	0	0	1	0	0	0	6350	1638	57	3	930	3	GDAP2	1	118441835	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	142	118441835	130808786	943	3089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118455300G>A	ENST00000369443.4	-	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	108	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													73	332					0	0	1	0	0	A	118455300	G	A	118455300	4	1	22	1	0	0	0	0	0	1	0	0	6350	1124	39	1	1260	1	GDAP2	1	118455300	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13465	118455300	130795321	944	3090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118462854G>A	ENST00000369443.4	-	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	43	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													32	307					0	0	1	0	0	A	118462854	G	A	118462854	4	1	22	1	0	0	0	0	0	1	0	0	6350	1066	37	1	1463	1	GDAP2	1	118462854	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7554	118462854	130787767	945	3091											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118492397A>G	ENST00000349139.4	+	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	516						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													56	227					0	0	1	0	0	G	118492397	A	G	118492397	2	3	22	1	0	0	0	0	0	0	0	1	17345	175	7	3		3	WDR3	1	118492397	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29543	118492397	130758224	946	3092											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118495213G>A	ENST00000349139.4	+	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	693						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													115	411					0	0	1	0	0	A	118495213	G	A	118495213	2	1	22	1	0	0	0	0	0	0	0	1	17345	1132	40	1		1	WDR3	1	118495213	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2816	118495213	130755408	947	3093											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118501532G>T	ENST00000349139.4	+	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													23	263					1.96895e-08	2.05624e-08	1	1	0	T	118501532	G	T	118501532	5	4	22	1	0	0	0	0	0	0	1	0	17345	1014	35	2	2680	2	WDR3	1	118501532	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6319	118501532	130749089	948	3094											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													134	475					0	0	1	0	0	A	118727776	G	A	118727776	3	1	22	1	0	0	0	0	1	0	0	0	15035	1319	46	2	6858	2	SPAG17	1	118727776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	226244	118727776	130522845	949	3095											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	228					0	0	1	0	0	T	119427768	C	T	119427768	3	4	22	1	0	0	0	0	1	0	0	0	15712	652	23	1	416	1	TBX15	1	119427768	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	699992	119427768	129822853	950	3096											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	161					0	0	1	0	0	A	119474288	G	A	119474288	3	1	22	1	0	0	0	0	1	0	0	0	15712	1086	38	1	1463	1	TBX15	1	119474288	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46520	119474288	129776333	951	3097											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	NM_001005783.1	NP_001005783.1	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													65	661					0	0	1	0	0	C	119923708	A	C	119923708	3	2	22	1	0	0	0	0	1	0	0	0	6993	29	1	3	2	3	HAO2	1	119923708	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	449420	119923708	129326913	952	3098											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	NM_001005783.1	NP_001005783.1	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													76	279					0	0	1	0	0	T	119929252	C	T	119929252	3	4	22	1	0	0	0	0	1	0	0	0	6993	710	25	2	583	2	HAO2	1	119929252	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5544	119929252	129321369	953	3099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528909.1_Missense_Mutation_p.F218L|HSD3B1_ENST00000369413.3_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													109	376					4.98428e-49	6.16141e-49	1	1	0	A	120056800	C	A	120056800	3	1	22	1	0	0	0	0	1	0	0	0	7431	912	32	2	664	2	HSD3B1	1	120056800	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127548	120056800	129193821	954	3100											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528909.1_Missense_Mutation_p.A334V|HSD3B1_ENST00000369413.3_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													49	370					0	0	1	0	0	T	120057147	C	T	120057147	3	4	22	1	0	0	0	0	1	0	0	0	7431	797	28	2	1011	2	HSD3B1	1	120057147	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	347	120057147	129193474	955	3101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	32					0	0	1	0	0	T	120165879	C	T	120165879	3	4	22	1	0	0	0	0	1	0	0	0	18156	536	19	1	554	1	ZNF697	1	120165879	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108732	120165879	129084742	956	3102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	1134					0	0	1	0	0	T	120277277	C	T	120277277	2	4	22	1	0	0	0	0	0	0	0	1	11889	816	29	2		2	PHGDH	1	120277277	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111398	120277277	128973344	957	3103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	315					0	0	1	0	0	A	120284428	G	A	120284428	3	1	22	1	0	0	0	0	1	0	0	0	11889	1087	38	1	1155	1	PHGDH	1	120284428	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7151	120284428	128966193	958	3104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	354					0	0	1	0	0	T	120295298	C	T	120295298	5	4	22	1	0	0	0	0	0	0	1	0	7274	695	24	2	240	2	HMGCS2	1	120295298	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10870	120295298	128955323	959	3105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	263					0	0	1	0	0	T	120438762	C	T	120438762	2	4	22	1	0	0	0	0	0	0	0	1	247	697	25	2		2	ADAM30	1	120438762	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143464	120438762	128811859	960	3106											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				57	393					0	0	1	0	0	T	120458178	C	T	120458178	2	4	22	1	0	0	0	0	0	0	0	1	10595	796	28	2		2	NOTCH2	1	120458178	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19416	120458178	128792443	961	3107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				10	333					0	0	1	0	0	C	120459014	T	C	120459014	3	2	22	1	0	0	0	0	1	0	0	0	10595	1638	57	3	1088	3	NOTCH2	1	120459014	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	836	120459014	128791607	962	3108											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				41	373					4.10826e-27	4.75084e-27	1	1	0	T	120466323	G	T	120466323	3	4	22	1	0	0	0	0	1	0	0	0	10595	971	34	2	2655	2	NOTCH2	1	120466323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7309	120466323	128784298	963	3109											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				46	156					0	0	1	0	0	A	120483361	G	A	120483361	2	1	22	1	0	0	0	0	0	0	0	1	10595	1306	46	2		2	NOTCH2	1	120483361	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17038	120483361	128767260	964	3110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				93	851					5.52034e-35	6.58082e-35	1	1	0	A	120506274	C	A	120506274	3	1	22	1	0	0	0	0	1	0	0	0	10595	797	28	2	5673	2	NOTCH2	1	120506274	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22913	120506274	128744347	965	3111											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP11-439A17.9_ENST00000457996.1_RNA|RP11-439A17.10_ENST00000426275.1_RNA|FCGR1B_ENST00000472543.1_5'UTR	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													124	524					0	0	1	0	0	T	120930255	C	T	120930255	3	4	22	1	0	0	0	0	1	0	0	0	5813	864	30	2	504	2	FCGR1B	1	120930255	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423981	120930255	128320366	966	3112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369354.3_Missense_Mutation_p.A2328V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2328V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2413V|PDE4DIP_ENST00000524974.1_5'UTR			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								5	183					0	0	1	0	0	A	144854181	G	A	144854181	3	1	22	1	0	0	0	0	1	0	0	0	11690	1319	46	2	65	2	PDE4DIP	1	144854181	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23923926	144854181	104396440	967	3113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369354.3_Missense_Mutation_p.A2239P|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2239P|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2324P|PDE4DIP_ENST00000524974.1_5'UTR			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								51	272					0	0	1	0	0	G	144855838	C	G	144855838	3	3	22	1	0	0	0	0	1	0	0	0	11690	710	25	5	341	5	PDE4DIP	1	144855838	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1657	144855838	104394783	968	3114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369354.3_Silent_p.T2140T|PDE4DIP_ENST00000369356.4_Silent_p.T2140T|PDE4DIP_ENST00000530740.1_Silent_p.T2225T|PDE4DIP_ENST00000524974.1_5'UTR			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								131	1464					0	0	1	0	0	T	144857634	C	T	144857634	2	4	22	1	0	0	0	0	0	0	0	1	11690	755	27	1		1	PDE4DIP	1	144857634	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1796	144857634	104392987	969	3115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369354.3_Silent_p.Q1996Q|PDE4DIP_ENST00000369356.4_Silent_p.Q1996Q|PDE4DIP_ENST00000530740.1_Silent_p.Q2081Q|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA			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								76	795					0	0	1	0	0	T	144863415	C	T	144863415	2	4	22	1	0	0	0	0	0	0	0	1	11690	796	28	2		2	PDE4DIP	1	144863415	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5781	144863415	104387206	970	3116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369354.3_Missense_Mutation_p.S1931I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1931I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S2016I|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA			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								64	663					3.00063e-23	3.40875e-23	1	1	0	A	144864303	C	A	144864303	3	1	22	1	0	0	0	0	1	0	0	0	11690	797	28	2	1284	2	PDE4DIP	1	144864303	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	888	144864303	104386318	971	3117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369354.3_Missense_Mutation_p.R1444I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1444I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1580I|PDE4DIP_ENST00000524974.1_5'UTR			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								31	701					7.26314e-15	7.90818e-15	1	1	0	A	144879119	C	A	144879119	3	1	22	1	0	0	0	0	1	0	0	0	11690	913	32	2	2781	2	PDE4DIP	1	144879119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14816	144879119	104371502	972	3118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369354.3_Missense_Mutation_p.T1086I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T1086I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T1223I|PDE4DIP_ENST00000524974.1_5'UTR			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								66	1368					0	0	1	0	0	A	144882762	G	A	144882762	3	1	22	1	0	0	0	0	1	0	0	0	11690	1029	36	2	3867	2	PDE4DIP	1	144882762	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3643	144882762	104367859	973	3119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_3'UTR|PDE4DIP_ENST00000369349.3_Nonstop_Mutation_p.*970Y|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369359.4_Intron	NM_001002811.1	NP_001002811.1	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								19	146					9.57634e-11	1.01752e-10	1	1	0	A	144892214	C	A	144892214	4	1	22	1	0	0	0	0	0	0	0	0	11690	808	28	2	4228	2	PDE4DIP	1	144892214	Nonstop_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9452	144892214	104358407	974	3120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000313382.9_Missense_Mutation_p.R576H|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000369356.4_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_ENST00000369359.4_Missense_Mutation_p.R647H			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								73	1528					0	0	1	0	0	T	144917575	C	T	144917575	3	4	22	1	0	0	0	0	1	0	0	0	11690	536	19	1	5653	1	PDE4DIP	1	144917575	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25361	144917575	104333046	975	3121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144930582A>G	ENST00000529945.1	-	1	1565		c.e1+1		PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313431.9_Splice_Site|PDE4DIP_ENST00000369359.4_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								39	619					0	0	1	0	0	G	144930582	A	G	144930582	5	3	22	1	0	0	0	0	0	0	1	0	11690	405	14	3	6572	3	PDE4DIP	1	144930582	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13007	144930582	104320039	976	3122											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000313382.9_Missense_Mutation_p.T273I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.T207I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.T207I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.T207I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T207I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T344I			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								33	295					0	0	1	0	0	A	144946641	G	A	144946641	3	1	22	1	0	0	0	0	1	0	0	0	11690	1029	36	2	7719	2	PDE4DIP	1	144946641	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16059	144946641	104303980	977	3123											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000313382.9_Missense_Mutation_p.L254I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.L188I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.L188I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.L188I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L188I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L325I			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								63	419					8.24881e-48	1.01635e-47	1	1	0	T	144946699	G	T	144946699	3	4	22	1	0	0	0	0	1	0	0	0	11690	971	34	2	7777	2	PDE4DIP	1	144946699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58	144946699	104303922	978	3124											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000313382.9_Silent_p.Q101Q|PDE4DIP_ENST00000369354.3_Silent_p.Q35Q|PDE4DIP_ENST00000369347.4_Silent_p.Q35Q|PDE4DIP_ENST00000369348.3_Silent_p.Q172Q|PDE4DIP_ENST00000369351.3_Silent_p.Q35Q|PDE4DIP_ENST00000369349.3_Silent_p.Q35Q|PDE4DIP_ENST00000369356.4_Silent_p.Q35Q|PDE4DIP_ENST00000530740.1_Silent_p.Q172Q			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								50	953					0	0	1	0	0	T	144994627	C	T	144994627	2	4	22	1	0	0	0	0	0	0	0	1	11690	912	32	2		2	PDE4DIP	1	144994627	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47928	144994627	104255994	979	3125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	88					0	0	1	0	0	A	145103941	G	A	145103941	1	1	22	0	1	0	0	0	0	0	0	0	14043	1203	42	2		2	SEC22B	1	145103941	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109314	145103941	104146680	980	3126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.C82Y|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.C82Y|RP11-458D21.5_ENST00000468030.1_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													83	2199					0	0	1	0	0	A	145273391	G	A	145273391	3	1	22	1	0	0	0	0	1	0	0	0	10596	1319	46	2	251	2	NOTCH2NL	1	145273391	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169450	145273391	103977230	981	3127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.Q154H|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.Q154H|RP11-458D21.5_ENST00000468030.1_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													74	1415					1.00776e-21	1.13667e-21	1	1	0	T	145281532	G	T	145281532	3	4	22	1	0	0	0	0	1	0	0	0	10596	962	34	2	472	2	NOTCH2NL	1	145281532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8141	145281532	103969089	982	3128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	252					0	0	1	0	0	C	145415658	T	C	145415658	2	2	22	1	0	0	0	0	0	0	0	1	7123	1654	58	3		3	HFE2	1	145415658	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	134126	145415658	103834963	983	3129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	395					0	0	1	0	0	T	145416857	C	T	145416857	3	4	22	1	0	0	0	0	1	0	0	0	7123	797	28	2	1212	2	HFE2	1	145416857	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1199	145416857	103833764	984	3130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	393					0	0	1	0	0	A	145438873	G	A	145438873	3	1	22	1	0	0	0	0	1	0	0	0	16865	1203	42	2	73	2	TXNIP	1	145438873	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22016	145438873	103811748	985	3131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	697					6.84403e-32	8.07054e-32	1	1	0	A	145474082	C	A	145474082	3	1	22	1	0	0	0	0	1	0	0	0	657	680	24	2	756	2	ANKRD34A	1	145474082	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35209	145474082	103776539	986	3132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145508545A>C	ENST00000330165.7	+	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	92	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													129	326					0	0	1	0	0	C	145508545	A	C	145508545	3	2	22	1	0	0	0	0	1	0	0	0	13198	98	4	3	290	3	RBM8A	1	145508545	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34463	145508545	103742076	987	3133											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539363.1_Silent_p.T615T|ITGA10_ENST00000538811.1_Silent_p.T627T	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													240	733					0	0	1	0	0	T	145536894	C	T	145536894	2	4	22	1	0	0	0	0	0	0	0	1	7917	668	24	2		2	ITGA10	1	145536894	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28349	145536894	103713727	988	3134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145561096G>A	ENST00000355594.4	+	10	871	c.783_splice	c.e10-1	p.A262_splice	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.3	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													40	129					0	0	1	0	0	A	145561096	G	A	145561096	5	1	22	1	0	0	0	0	0	0	1	0	659	1217	42	2	822	2	ANKRD35	1	145561096	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24202	145561096	103689525	989	3135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													137	505					0	0	1	0	0	A	145584278	G	A	145584278	3	1	22	1	0	0	0	0	1	0	0	0	11925	1203	42	2	1471	2	PIAS3	1	145584278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23182	145584278	103666343	990	3136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145587350G>A	ENST00000334513.5	-	6	741	c.731_splice	c.e6+1	p.L244_splice		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													82	214					0	0	1	0	0	A	145587350	G	A	145587350	5	1	22	1	0	0	0	0	0	0	1	0	10782	1014	35	2	268	2	NUDT17	1	145587350	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3072	145587350	103663271	991	3137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145663313G>A	ENST00000369291.4	+	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	125					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													33	387					0	0	1	0	0	A	145663313	G	A	145663313	3	1	22	1	0	0	0	0	1	0	0	0	13482	1116	39	1	388	1	RNF115	1	145663313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75963	145663313	103587308	992	3138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369288.2_Missense_Mutation_p.H48Y|CD160_ENST00000401557.3_Missense_Mutation_p.H48Y|CD160_ENST00000369290.1_Intron			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													22	283					0	0	1	0	0	A	145704275	G	A	145704275	3	1	22	1	0	0	0	0	1	0	0	0	2988	1319	46	2	415	2	CD160	1	145704275	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40962	145704275	103546346	993	3139											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417171.1_Missense_Mutation_p.G146D|PDZK1_ENST00000451928.2_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													87	354					0	0	1	0	0	A	145748564	G	A	145748564	3	1	22	1	0	0	0	0	1	0	0	0	11754	1203	42	2	443	2	PDZK1	1	145748564	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44289	145748564	103502057	994	3140											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	139					1.88708e-17	2.08396e-17	1	1	0	A	146631222	C	A	146631222	5	1	22	1	0	0	0	0	0	0	1	0	12548	695	24	2	81	2	PRKAB2	1	146631222	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	882658	146631222	102619399	995	3141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	46					0	0	1	0	0	A	146643671	G	A	146643671	3	1	22	1	0	0	0	0	1	0	0	0	12548	971	34	2	793	2	PRKAB2	1	146643671	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12449	146643671	102606950	996	3142											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|FMO5_ENST00000441068.2_Missense_Mutation_p.P364L|FMO5_ENST00000369272.3_Intron	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													34	272					0	0	1	0	0	A	146672826	G	A	146672826	3	1	22	1	0	0	0	0	1	0	0	0	5991	1348	47	2	665	2	FMO5	1	146672826	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29155	146672826	102577795	997	3143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369259.3_Intron|CHD1L_ENST00000467213.1_3'UTR	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													187	1024					0	0	1	0	0	G	146731508	T	G	146731508	3	3	22	1	0	0	0	0	1	0	0	0	3346	1609	56	3	534	3	CHD1L	1	146731508	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	58682	146731508	102519113	998	3144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369259.3_Missense_Mutation_p.T651I|CHD1L_ENST00000467213.1_3'UTR	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													12	810					0	0	1	0	0	T	146766148	C	T	146766148	3	4	22	1	0	0	0	0	1	0	0	0	3346	565	20	2	2650	2	CHD1L	1	146766148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34640	146766148	102484473	999	3145											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								22	167					1.42536e-11	1.52187e-11	1	1	0	T	147092306	G	T	147092306	3	4	22	1	0	0	0	0	1	0	0	0	1379	942	33	2	2363	2	BCL9	1	147092306	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	326158	147092306	102158315	1000	3146											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Silent_p.S289S	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	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													139	503					1.56226e-53	1.94757e-53	1	1	0	T	147230480	G	T	147230480	2	4	22	1	0	0	0	0	0	0	0	1	6446	1219	43	2		2	GJA5	1	147230480	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138174	147230480	102020141	1001	3147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													157	726					0	0	1	0	0	C	147380546	T	C	147380546	3	2	22	1	0	0	0	0	1	0	0	0	6447	1435	50	3	466	3	GJA8	1	147380546	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	150066	147380546	101870075	1002	3148											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	286					0	0	1	0	0	T	147380849	C	T	147380849	3	4	22	1	0	0	0	0	1	0	0	0	6447	797	28	2	769	2	GJA8	1	147380849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	303	147380849	101869772	1003	3149											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	79					0	0	1	0	0	A	147381090	G	A	147381090	2	1	22	1	0	0	0	0	0	0	0	1	6447	1074	38	1		1	GJA8	1	147381090	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241	147381090	101869531	1004	3150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	93					0	0	1	0	0	T	147381177	C	T	147381177	2	4	22	1	0	0	0	0	0	0	0	1	6447	639	23	1		1	GJA8	1	147381177	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87	147381177	101869444	1005	3151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	1655					0	0	1	0	0	G	148004691	A	G	148004691	3	3	22	1	0	0	0	0	1	0	0	0	10242	304	11	3	146	3	NBPF14	1	148004691	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	623514	148004691	101245930	1006	3152											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	1611					7.93312e-07	8.20014e-07	1	1	0	T	148009417	G	T	148009417	3	4	22	1	0	0	0	0	1	0	0	0	10242	1020	36	2	903	2	NBPF14	1	148009417	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4726	148009417	101241204	1007	3153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	1903					0	0	1	0	0	T	148017572	C	T	148017572	2	4	22	1	0	0	0	0	0	0	0	1	10242	523	19	1		1	NBPF14	1	148017572	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8155	148017572	101233049	1008	3154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	507					6.83704e-37	8.1978e-37	1	1	0	A	149759933	C	A	149759933	3	1	22	1	0	0	0	0	1	0	0	0	5812	564	20	2	333	2	FCGR1A	1	149759933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1742361	149759933	99490688	1009	3155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	234					0	0	1	0	0	G	149871987	A	G	149871987	2	3	22	1	0	0	0	0	0	0	0	1	1484	204	8	3		3	BOLA1	1	149871987	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112054	149871987	99378634	1010	3156											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000406732.3_Silent_p.D196D|MTMR11_ENST00000361405.6_Silent_p.D224D|MTMR11_ENST00000369140.3_Silent_p.D152D|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													120	539					0	0	1	0	0	A	149906095	G	A	149906095	2	1	22	1	0	0	0	0	0	0	0	1	9988	1136	40	1		1	MTMR11	1	149906095	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34108	149906095	99344526	1011	3157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149916165C>T	ENST00000369135.3	-	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	708					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													94	303					0	0	1	0	0	T	149916165	C	T	149916165	3	4	22	1	0	0	0	0	1	0	0	0	11366	710	25	2	412	2	OTUD7B	1	149916165	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10070	149916165	99334456	1012	3158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149939346C>A	ENST00000369135.3	-	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	125					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													62	295					1.12612e-26	1.29957e-26	1	1	0	A	149939346	C	A	149939346	3	1	22	1	0	0	0	0	1	0	0	0	11366	796	28	2	2192	2	OTUD7B	1	149939346	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23181	149939346	99311275	1013	3159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149939428C>T	ENST00000369135.3	-	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	98					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													51	255					0	0	1	0	0	T	149939428	C	T	149939428	3	4	22	1	0	0	0	0	1	0	0	0	11366	739	26	2	2274	2	OTUD7B	1	149939428	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82	149939428	99311193	1014	3160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461320.1_5'UTR|APH1A_ENST00000414276.2_Intron|APH1A_ENST00000369109.3_Missense_Mutation_p.R115C	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													16	82					0	0	1	0	0	A	150240131	G	A	150240131	3	1	22	1	0	0	0	0	1	0	0	0	767	1116	39	1	485	1	APH1A	1	150240131	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	300703	150240131	99010490	1015	3161											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461320.1_5'UTR|APH1A_ENST00000414276.2_Intron|APH1A_ENST00000369109.3_Missense_Mutation_p.S110L	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													14	83					0	0	1	0	0	A	150240145	G	A	150240145	3	1	22	1	0	0	0	0	1	0	0	0	767	1294	45	2	499	2	APH1A	1	150240145	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14	150240145	99010476	1016	3162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369094.1_Intron|C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369095.1_Silent_p.S6S	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													302	896					0	0	1	0	0	T	150255695	C	T	150255695	2	4	22	1	0	0	0	0	0	0	0	1	2057	767	27	1		1	C1orf51	1	150255695	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15550	150255695	98994926	1017	3163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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													12	343					0.000978159	0.000988919	1	1	0	A	150280587	C	A	150280587	2	1	22	1	0	0	0	0	0	0	0	1	9881	903	32	2		2	MRPS21	1	150280587	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24892	150280587	98970034	1018	3164											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													147	760					0	0	1	0	0	T	150298269	C	T	150298269	3	4	22	1	0	0	0	0	1	0	0	0	12617	797	28	2	212	2	PRPF3	1	150298269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17682	150298269	98952352	1019	3165											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467329.1_3'UTR|PRPF3_ENST00000543398.1_Silent_p.S172S	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													19	248					0	0	1	0	0	T	150307598	C	T	150307598	2	4	22	1	0	0	0	0	0	0	0	1	12617	581	21	2		2	PRPF3	1	150307598	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9329	150307598	98943023	1020	3166											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467329.1_3'UTR|PRPF3_ENST00000543398.1_Silent_p.R273R	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													44	248					0	0	1	0	0	C	150312898	A	C	150312898	3	2	22	1	0	0	0	0	1	0	0	0	12617	69	3	3	1257	3	PRPF3	1	150312898	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5300	150312898	98937723	1021	3167											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369054.2_Silent_p.D262D|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_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													6	189					0	0	1	0	0	T	150470161	C	T	150470161	2	4	22	1	0	0	0	0	0	0	0	1	15617	535	19	1		1	TARS2	1	150470161	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157263	150470161	98780460	1022	3168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346569.6_Missense_Mutation_p.S198Y|ECM1_ENST00000369049.4_Missense_Mutation_p.S225Y	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													87	1273					3.37043e-27	3.8985e-27	1	1	0	A	150483559	C	A	150483559	3	1	22	1	0	0	0	0	1	0	0	0	4923	855	30	2	615	2	ECM1	1	150483559	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13398	150483559	98767062	1023	3169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150485713A>C	ENST00000369047.4	+	10	1518	c.1392_splice	c.e10-1	p.K465_splice	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Splice_Site_p.K340_splice|ECM1_ENST00000369049.4_Splice_Site_p.K492_splice	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													104	274					0	0	1	0	0	C	150485713	A	C	150485713	5	2	22	1	0	0	0	0	0	0	1	0	4923	260	9	3	1431	3	ECM1	1	150485713	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2154	150485713	98764908	1024	3170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369039.5_Silent_p.H131H|ADAMTSL4_ENST00000369041.5_Silent_p.H131H|RP11-54A4.2_ENST00000442435.2_RNA|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													56	327					0	0	1	0	0	T	150525688	C	T	150525688	2	4	22	1	0	0	0	0	0	0	0	1	276	506	18	2		2	ADAMTSL4	1	150525688	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39975	150525688	98724933	1025	3171											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369039.5_Missense_Mutation_p.A142S|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.A142S|RP11-54A4.2_ENST00000442435.2_RNA|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													15	258					2.61681e-11	2.78987e-11	1	1	0	T	150525719	G	T	150525719	3	4	22	1	0	0	0	0	1	0	0	0	276	971	34	2	434	2	ADAMTSL4	1	150525719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31	150525719	98724902	1026	3172	22	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150525729G>T	ENST00000271643.4	+	5	670	c.434_splice	c.e5+1	p.R145_splice	ADAMTSL4_ENST00000369039.5_Splice_Site_p.R145_splice|ADAMTSL4_ENST00000369041.5_Splice_Site_p.R145_splice|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Splice_Site_p.R145_splice	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													33	227					1.80694e-10	1.9163e-10	1	1	0	T	150525729	G	T	150525729	5	4	22	1	0	0	0	0	0	0	1	0	276	1014	35	2	444	2	ADAMTSL4	1	150525729	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10	150525729	98724892	1027	3173	22	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	61					0	0	1	0	0	A	150551721	G	A	150551721	2	1	22	1	0	0	0	0	0	0	0	1	9434	962	34	2		2	MCL1	1	150551721	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25992	150551721	98698900	1028	3174											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361631.5_Silent_p.P110P|ENSA_ENST00000369014.5_Silent_p.P98P|ENSA_ENST00000503241.1_Silent_p.P114P|ENSA_ENST00000369016.4_Silent_p.P114P|ENSA_ENST00000503345.1_3'UTR|ENSA_ENST00000369009.3_Silent_p.P121P|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000361532.5_Silent_p.P94P|ENSA_ENST00000339643.5_Silent_p.P114P|ENSA_ENST00000513281.1_Silent_p.P94P|ENSA_ENST00000356527.5_Silent_p.P121P	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													10	295					0	0	1	0	0	A	150598174	G	A	150598174	2	1	22	1	0	0	0	0	0	0	0	1	5164	1335	47	2		2	ENSA	1	150598174	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46453	150598174	98652447	1029	3175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	364					0	0	1	0	0	T	150620874	C	T	150620874	3	4	22	1	0	0	0	0	1	0	0	0	6608	855	30	2	80	2	GOLPH3L	1	150620874	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22700	150620874	98629747	1030	3176											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Missense_Mutation_p.T223I	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													99	457					0	0	1	0	0	A	150720331	G	A	150720331	3	1	22	1	0	0	0	0	1	0	0	0	4065	1029	36	2	185	2	CTSS	1	150720331	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99457	150720331	98530290	1031	3177											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Silent_p.C130C	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													106	577					0	0	1	0	0	A	150724344	G	A	150724344	2	1	22	1	0	0	0	0	0	0	0	1	4065	1311	46	2		2	CTSS	1	150724344	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4013	150724344	98526277	1032	3178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150915038G>T	ENST00000271640.5	+	6	737		c.e6-1		SETDB1_ENST00000368963.1_Splice_Site|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368962.2_Splice_Site|SETDB1_ENST00000368969.4_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													38	515					3.61848e-18	4.01023e-18	1	1	0	T	150915038	G	T	150915038	5	4	22	1	0	0	0	0	0	0	1	0	14192	1014	35	2	565	2	SETDB1	1	150915038	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190694	150915038	98335583	1033	3179											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	177					0	0	1	0	0	T	150957102	C	T	150957102	3	4	22	1	0	0	0	0	1	0	0	0	721	739	26	2	440	2	ANXA9	1	150957102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42064	150957102	98293519	1034	3180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	310	904					0	0	1	0	0	G	151021076	A	G	151021076	2	3	22	1	0	0	0	0	0	0	0	1	2062	40	2	3		3	C1orf56	1	151021076	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	63974	151021076	98229545	1035	3181											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	72					0	0	1	0	0	A	151105814	G	A	151105814	3	1	22	1	0	0	0	0	1	0	0	0	14095	1087	38	1	857	1	SEMA6C	1	151105814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84738	151105814	98144807	1036	3182											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	169					0	0	1	0	0	T	151115025	C	T	151115025	3	4	22	1	0	0	0	0	1	0	0	0	14095	768	27	1	2887	1	SEMA6C	1	151115025	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9211	151115025	98135596	1037	3183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	357					5.73332e-34	6.80828e-34	1	1	0	T	151259046	G	T	151259046	3	4	22	1	0	0	0	0	1	0	0	0	18148	962	34	2	281	2	ZNF687	1	151259046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144021	151259046	97991575	1038	3184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	610					0	0	1	0	0	C	151262958	A	C	151262958	3	2	22	1	0	0	0	0	1	0	0	0	18148	14	1	3	3154	3	ZNF687	1	151262958	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3912	151262958	97987663	1039	3185											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368870.2_Nonsense_Mutation_p.E187*|RFX5_ENST00000452671.2_Nonsense_Mutation_p.E187*|RFX5_ENST00000452513.2_Nonsense_Mutation_p.E147*	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													77	233					5.32961e-40	6.45334e-40	1	1	0	A	151316355	C	A	151316355	4	1	22	1	0	0	0	0	0	1	0	0	13318	922	32	2	1303	2	RFX5	1	151316355	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53397	151316355	97934266	1040	3186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361398.3_Missense_Mutation_p.T1218I|POGZ_ENST00000409503.1_Missense_Mutation_p.T1262I|POGZ_ENST00000531094.1_Missense_Mutation_p.T1209I|POGZ_ENST00000491586.1_Missense_Mutation_p.T1227I|POGZ_ENST00000540984.1_Missense_Mutation_p.T633I|POGZ_ENST00000368863.2_Missense_Mutation_p.T1176I|POGZ_ENST00000392723.1_Missense_Mutation_p.T1218I	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													200	1017					0	0	1	0	0	A	151377699	G	A	151377699	3	1	22	1	0	0	0	0	1	0	0	0	12234	1029	36	2	424	2	POGZ	1	151377699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61344	151377699	97872922	1041	3187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361398.3_Missense_Mutation_p.D1176E|POGZ_ENST00000409503.1_Missense_Mutation_p.D1220E|POGZ_ENST00000531094.1_Missense_Mutation_p.D1167E|POGZ_ENST00000491586.1_Missense_Mutation_p.D1185E|POGZ_ENST00000540984.1_Missense_Mutation_p.D591E|POGZ_ENST00000368863.2_Missense_Mutation_p.D1134E|POGZ_ENST00000392723.1_Missense_Mutation_p.D1176E	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													12	479					5.50884e-06	5.65664e-06	1	1	0	T	151377824	G	T	151377824	3	4	22	1	0	0	0	0	1	0	0	0	12234	1020	36	2	549	2	POGZ	1	151377824	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125	151377824	97872797	1042	3188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	123					0	0	1	0	0	G	151493070	A	G	151493070	5	3	22	1	0	0	0	0	0	0	1	0	3325	202	7	3	1057	3	CGN	1	151493070	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	115246	151493070	97757551	1043	3189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	100					0	0	1	0	0	T	151497153	C	T	151497153	2	4	22	1	0	0	0	0	0	0	0	1	3325	680	24	2		2	CGN	1	151497153	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4083	151497153	97753468	1044	3190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000458431.2_Silent_p.G143G|TDRKH_ENST00000368823.1_Silent_p.G139G|TDRKH_ENST00000368824.3_Silent_p.G143G|TDRKH_ENST00000368827.6_Silent_p.G143G|TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000440583.2_5'UTR|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													60	322					0	0	1	0	0	A	151751711	G	A	151751711	2	1	22	1	0	0	0	0	0	0	0	1	15796	1074	38	1		1	TDRKH	1	151751711	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	254558	151751711	97498910	1045	3191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													135	377					0	0	1	0	0	A	151773422	G	A	151773422	3	1	22	1	0	0	0	0	1	0	0	0	8858	1115	39	1	26	1	LINGO4	1	151773422	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21711	151773422	97477199	1046	3192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													208	915					0	0	1	0	0	A	151773618	G	A	151773618	2	1	22	1	0	0	0	0	0	0	0	1	8858	1164	41	2		2	LINGO4	1	151773618	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	196	151773618	97477003	1047	3193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	72					8.12818e-05	8.2724e-05	1	1	0	T	151775046	G	T	151775046	2	4	22	1	0	0	0	0	0	0	0	1	8858	929	33	2		2	LINGO4	1	151775046	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1428	151775046	97475575	1048	3194											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	30					5.50884e-06	5.65664e-06	1	1	0	A	151775194	C	A	151775194	5	1	22	1	0	0	0	0	0	0	1	0	8858	695	24	2		2	LINGO4	1	151775194	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148	151775194	97475427	1049	3195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Silent_p.Y436Y	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													67	1726					0	0	1	0	0	A	151785743	G	A	151785743	2	1	22	1	0	0	0	0	0	0	0	1	13582	1140	40	1		1	RORC	1	151785743	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10549	151785743	97464878	1050	3196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	260					0	0	1	0	0	A	151787891	G	A	151787891	2	1	22	1	0	0	0	0	0	0	0	1	13582	1049	37	1		1	RORC	1	151787891	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2148	151787891	97462730	1051	3197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	358					0	0	1	0	0	C	152005293	T	C	152005293	3	2	22	1	0	0	0	0	1	0	0	0	13825	1792	62	3	158	3	S100A11	1	152005293	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	217402	152005293	97245328	1052	3198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													183	862					0	0	1	0	0	T	152058970	A	T	152058970	2	4	22	1	0	0	0	0	0	0	0	1	15761	262	10	5		5	TCHHL1	1	152058970	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	53677	152058970	97191651	1053	3199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152060019G>T	ENST00000368806.1	-	3	203	c.138_splice	c.e3-1	p.P47_splice		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													38	203					9.8876e-21	1.10988e-20	1	1	0	T	152060019	G	T	152060019	5	4	22	1	0	0	0	0	0	0	1	0	15761	1217	42	2	2579	2	TCHHL1	1	152060019	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1049	152060019	97190602	1054	3200											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	428					0	0	1	0	0	A	152080181	G	A	152080181	3	1	22	1	0	0	0	0	1	0	0	0	15760	1086	38	1	323	1	TCHH	1	152080181	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20162	152080181	97170440	1055	3201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	608					0	0	1	0	0	A	152080423	G	A	152080423	3	1	22	1	0	0	0	0	1	0	0	0	15760	1116	39	1	565	1	TCHH	1	152080423	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242	152080423	97170198	1056	3202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	817					0	0	1	0	0	A	152080722	G	A	152080722	2	1	22	1	0	0	0	0	0	0	0	1	15760	1074	38	1		1	TCHH	1	152080722	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299	152080722	97169899	1057	3203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													179	1134					0	0	1	0	0	T	152082432	C	T	152082432	2	4	22	1	0	0	0	0	0	0	0	1	15760	796	28	2		2	TCHH	1	152082432	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1710	152082432	97168189	1058	3204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	276					0	0	1	0	0	A	152084576	G	A	152084576	3	1	22	1	0	0	0	0	1	0	0	0	15760	1087	38	1	4718	1	TCHH	1	152084576	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2144	152084576	97166045	1059	3205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													277	880					0	0	1	0	0	T	152085355	C	T	152085355	3	4	22	1	0	0	0	0	1	0	0	0	15760	768	27	1	5497	1	TCHH	1	152085355	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	779	152085355	97165266	1060	3206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													436	2265					0	0	1	0	0	A	152127264	G	A	152127264	4	1	22	1	0	0	0	0	0	1	0	0	13716	1153	40	1	47	1	RPTN	1	152127264	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41909	152127264	97123357	1061	3207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													289	892					0	0	1	0	0	T	152128896	C	T	152128896	3	4	22	1	0	0	0	0	1	0	0	0	13716	710	25	2	1679	2	RPTN	1	152128896	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1632	152128896	97121725	1062	3208											
HRNR	388697	broad.mit.edu	37	chr1	152187575	152187575	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taggggaatggccagatccaGacccttgtcggccgtggccc	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152187575G>T	ENST00000368801.2	-	3	6605	c.6530C>A	c.(6529-6531)tCt>tAt	p.S2177Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2177					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)			GCCAGATCCAGACCCTTGTCG	0.637													54	997					2.66277e-13	2.87267e-13	1	1	0	T	152187575	G	T	152187575	3	4	22	1	0	0	0	0	1	0	0	0	7400	942	33	2	2026	2	HRNR	1	152187575	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58679	152187575	97063046	1063	3209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	2801					9.7654e-05	9.93505e-05	1	1	0	T	152188160	G	T	152188160	3	4	22	1	0	0	0	0	1	0	0	0	7400	942	33	2	2611	2	HRNR	1	152188160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	585	152188160	97062461	1064	3210											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													195	1283					6.4993e-71	8.25884e-71	1	1	0	T	152192138	G	T	152192138	3	4	22	1	0	0	0	0	1	0	0	0	7400	942	33	2	6589	2	HRNR	1	152192138	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3978	152192138	97058483	1065	3211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													268	1522					0	0	1	0	0	A	152192207	G	A	152192207	3	1	22	1	0	0	0	0	1	0	0	0	7400	942	33	2	6658	2	HRNR	1	152192207	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69	152192207	97058414	1066	3212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													164	445					0	0	1	0	0	A	152192830	G	A	152192830	2	1	22	1	0	0	0	0	0	0	0	1	7400	1190	42	2		2	HRNR	1	152192830	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	623	152192830	97057791	1067	3213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				237	2588					0	0	1	0	0	A	152276040	G	A	152276040	2	1	22	1	0	0	0	0	0	0	0	1	5955	1136	40	1		1	FLG	1	152276040	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83210	152276040	96974581	1068	3214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				648	1988					0	0	1	0	0	T	152277244	C	T	152277244	3	4	22	1	0	0	0	0	1	0	0	0	5955	536	19	1	2071	1	FLG	1	152277244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1204	152277244	96973377	1069	3215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				547	4391					0	0	1	0	0	C	152279011	T	C	152279011	3	2	22	1	0	0	0	0	1	0	0	0	5955	1667	58	3	3838	3	FLG	1	152279011	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1767	152279011	96971610	1070	3216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				698	2166					0	0	1	0	0	C	152281915	T	C	152281915	3	2	22	1	0	0	0	0	1	0	0	0	5955	1696	59	3	6742	3	FLG	1	152281915	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2904	152281915	96968706	1071	3217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				462	2290					0	0	1	0	0	C	152281939	T	C	152281939	3	2	22	1	0	0	0	0	1	0	0	0	5955	1551	54	3	6766	3	FLG	1	152281939	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24	152281939	96968682	1072	3218											
FLG	2312	broad.mit.edu	37	chr1	152283914	152283914	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtgcctggagctgtctcGtgcctgctcgtggtgggatc	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152283914G>A	ENST00000368799.1	-	3	3483	c.3448C>T	c.(3448-3450)Cga>Tga	p.R1150*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1150	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)			GAGCTGTCTCGTGCCTGCTCG	0.597									Ichthyosis				100	2250					0	0	1	0	0	A	152283914	G	A	152283914	4	1	22	1	0	0	0	0	0	1	0	0	5955	1153	40	1	8741	1	FLG	1	152283914	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1975	152283914	96966707	1073	3219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				686	2063					0	0	1	0	0	A	152285813	G	A	152285813	3	1	22	1	0	0	0	0	1	0	0	0	5955	1058	37	1	10640	1	FLG	1	152285813	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1899	152285813	96964808	1074	3220											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_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													269	1252					0	0	1	0	0	C	152323365	T	C	152323365	2	2	22	1	0	0	0	0	0	0	0	1	5956	1654	58	3		3	FLG2	1	152323365	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37552	152323365	96927256	1075	3221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_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													389	1938					0	0	1	0	0	C	152323561	T	C	152323561	3	2	22	1	0	0	0	0	1	0	0	0	5956	1696	59	3	478	3	FLG2	1	152323561	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	196	152323561	96927060	1076	3222											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_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													20	1471					0	0	1	0	0	A	152324909	G	A	152324909	3	1	22	1	0	0	0	0	1	0	0	0	5956	1290	45	2	1826	2	FLG2	1	152324909	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1348	152324909	96925712	1077	3223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_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													304	1535					0	0	1	0	0	A	152325221	G	A	152325221	3	1	22	1	0	0	0	0	1	0	0	0	5956	1377	48	2	2138	2	FLG2	1	152325221	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	312	152325221	96925400	1078	3224											
FLG2	388698	broad.mit.edu	37	chr1	152327349	152327349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgttgtccaaagccagaGgactgacctgagcctgatcc	10	12	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152327349G>A	ENST00000388718.5	-	3	2985	c.2913C>T	c.(2911-2913)tcC>tcT	p.S971S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	971	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)			CAAAGCCAGAGGACTGACCTG	0.488													346	1618					0	0	1	0	0	A	152327349	G	A	152327349	2	1	22	1	0	0	0	0	0	0	0	1	5956	987	35	2		2	FLG2	1	152327349	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2128	152327349	96923272	1079	3225											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_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													114	1184					1.20873e-29	1.41311e-29	1	1	0	T	152329582	G	T	152329582	3	4	22	1	0	0	0	0	1	0	0	0	5956	942	33	2	6499	2	FLG2	1	152329582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2233	152329582	96921039	1080	3226											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													199	881					3.07355e-68	3.8966e-68	1	1	0	T	152382446	G	T	152382446	3	4	22	1	0	0	0	0	1	0	0	0	3915	971	34	2	379	2	CRNN	1	152382446	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52864	152382446	96868175	1081	3227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													169	1182					0	0	1	0	0	A	152383288	G	A	152383288	2	1	22	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	1082	3228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	366					1.08611e-07	1.12939e-07	1	1	0	A	152484304	C	A	152484304	2	1	22	1	0	0	0	0	0	0	0	1	8714	784	28	2		2	LCE5A	1	152484304	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101016	152484304	96766317	1083	3229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	497					0	0	1	0	0	T	152595443	C	T	152595443	3	4	22	1	0	0	0	0	1	0	0	0	8708	797	28	2	135	2	LCE3A	1	152595443	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111139	152595443	96655178	1084	3230											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													214	582					0	0	1	0	0	A	152732646	G	A	152732646	2	1	22	1	0	0	0	0	0	0	0	1	8479	1020	36	2		2	KPRP	1	152732646	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137203	152732646	96517975	1085	3231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	890					0	0	1	0	0	T	152733397	C	T	152733397	3	4	22	1	0	0	0	0	1	0	0	0	8479	759	27	1	1335	1	KPRP	1	152733397	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	751	152733397	96517224	1086	3232											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	275					8.64784e-51	1.07212e-50	1	1	0	A	152749094	C	A	152749094	3	1	22	1	0	0	0	0	1	0	0	0	8703	768	27	4	249	4	LCE1F	1	152749094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15697	152749094	96501527	1087	3233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	217					0	0	1	0	0	C	152770357	T	C	152770357	2	2	22	1	0	0	0	0	0	0	0	1	8701	1673	58	3		3	LCE1D	1	152770357	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21263	152770357	96480264	1088	3234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	221					2.23157e-60	2.80682e-60	1	1	0	A	152770417	C	A	152770417	2	1	22	1	0	0	0	0	0	0	0	1	8701	784	28	2		2	LCE1D	1	152770417	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	152770417	96480204	1089	3235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	499					0	0	1	0	0	A	152777708	G	A	152777708	3	1	22	1	0	0	0	0	1	0	0	0	8700	1116	39	1	113	1	LCE1C	1	152777708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7291	152777708	96472913	1090	3236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	303					0	0	1	0	0	A	152777882	G	A	152777882	3	1	22	1	0	0	0	0	1	0	0	0	8700	1232	43	2	287	2	LCE1C	1	152777882	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174	152777882	96472739	1091	3237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	70					0	0	1	0	0	C	152883822	G	C	152883822	3	2	22	1	0	0	0	0	1	0	0	0	7973	1174	41	5	1551	5	IVL	1	152883822	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105940	152883822	96366799	1092	3238											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													142	447					6.95259e-96	8.93585e-96	1	1	0	A	153029119	C	A	153029119	3	1	22	1	0	0	0	0	1	0	0	0	15153	564	20	2	129	2	SPRR2A	1	153029119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145297	153029119	96221502	1093	3239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	557					6.07207e-39	7.33261e-39	1	1	0	A	153122548	C	A	153122548	3	1	22	1	0	0	0	0	1	0	0	0	15158	796	28	2	186	2	SPRR2G	1	153122548	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93429	153122548	96128073	1094	3240											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	79					0	0	1	0	0	T	153279722	C	T	153279722	3	4	22	1	0	0	0	0	1	0	0	0	11843	768	27	1	972	1	PGLYRP3	1	153279722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157174	153279722	95970899	1095	3241											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	332					0	0	1	0	0	T	153312923	C	T	153312923	3	4	22	1	0	0	0	0	1	0	0	0	11844	768	27	1	375	1	PGLYRP4	1	153312923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33201	153312923	95937698	1096	3242											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	558					8.34767e-46	1.02437e-45	1	1	0	A	153314114	C	A	153314114	3	1	22	1	0	0	0	0	1	0	0	0	11844	797	28	2	523	2	PGLYRP4	1	153314114	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1191	153314114	95936507	1097	3243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	395					1.5842e-08	1.65642e-08	1	1	0	A	153391710	C	A	153391710	2	1	22	1	0	0	0	0	0	0	0	1	13836	668	24	2		2	S100A7A	1	153391710	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77596	153391710	95858911	1098	3244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368714.1_Missense_Mutation_p.N61S|S100A4_ENST00000368715.1_Missense_Mutation_p.N61S|S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000354332.4_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													17	1146					0	0	1	0	0	C	153516359	T	C	153516359	3	2	22	1	0	0	0	0	1	0	0	0	13832	1725	60	3	127	3	S100A4	1	153516359	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	124649	153516359	95734262	1099	3245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392623.1_Silent_p.T43T|S100A13_ENST00000392622.1_Silent_p.T43T|S100A13_ENST00000339556.4_Silent_p.T43T|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000440685.2_Silent_p.T43T|S100A13_ENST00000491177.1_5'UTR	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													235	1139					0	0	1	0	0	A	153598820	G	A	153598820	2	1	22	1	0	0	0	0	0	0	0	1	13827	1219	43	2		2	S100A13	1	153598820	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82461	153598820	95651801	1100	3246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	335					0	0	1	0	0	T	153642341	C	T	153642341	3	4	22	1	0	0	0	0	1	0	0	0	7755	478	17	2	1141	2	ILF2	1	153642341	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43521	153642341	95608280	1101	3247											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													144	381					6.51915e-81	8.33962e-81	1	1	0	A	153657450	C	A	153657450	3	1	22	1	0	0	0	0	1	0	0	0	10642	796	28	2	1525	2	NPR1	1	153657450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15109	153657450	95593171	1102	3248											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512605.1_Missense_Mutation_p.R128H|INTS3_ENST00000318967.2_Missense_Mutation_p.R334H|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.R334H			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													57	670					0	0	1	0	0	A	153730091	G	A	153730091	3	1	22	1	0	0	0	0	1	0	0	0	7823	1087	38	1	1039	1	INTS3	1	153730091	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72641	153730091	95520530	1103	3249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512605.1_Silent_p.L714L|INTS3_ENST00000318967.2_Silent_p.L920L|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.L920L			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)	109	317					0	0	1	0	0	T	153744853	C	T	153744853	2	4	22	1	0	0	0	0	0	0	0	1	7823	912	32	2		2	INTS3	1	153744853	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14762	153744853	95505768	1104	3250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	511					0	0	1	0	0	G	153791334	T	G	153791334	3	3	22	1	0	0	0	0	1	0	0	0	6301	1783	62	3	1283	3	GATAD2B	1	153791334	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46481	153791334	95459287	1105	3251											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													153	725					0	0	1	0	0	A	153800602	G	A	153800602	2	1	22	1	0	0	0	0	0	0	0	1	6301	958	34	2		2	GATAD2B	1	153800602	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9268	153800602	95450019	1106	3252											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	76					0	0	1	0	0	A	153903473	G	A	153903473	3	1	22	1	0	0	0	0	1	0	0	0	4462	1261	44	2	442	2	DENND4B	1	153903473	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102871	153903473	95347148	1107	3253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	90					0	0	1	0	0	A	153903495	G	A	153903495	3	1	22	1	0	0	0	0	1	0	0	0	4462	1144	40	1	464	1	DENND4B	1	153903495	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22	153903495	95347126	1108	3254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	85					0	0	1	0	0	G	153903514	A	G	153903514	2	3	22	1	0	0	0	0	0	0	0	1	4462	330	12	3		3	DENND4B	1	153903514	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19	153903514	95347107	1109	3255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	147					0	0	1	0	0	A	153905988	G	A	153905988	3	1	22	1	0	0	0	0	1	0	0	0	4462	1115	39	1	1225	1	DENND4B	1	153905988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2474	153905988	95344633	1110	3256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	547					1.32035e-51	1.6395e-51	1	1	0	T	153907339	G	T	153907339	2	4	22	1	0	0	0	0	0	0	0	1	4462	987	35	2		2	DENND4B	1	153907339	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1351	153907339	95343282	1111	3257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	129					0	0	1	0	0	T	153909116	C	T	153909116	3	4	22	1	0	0	0	0	1	0	0	0	4462	710	25	2	2201	2	DENND4B	1	153909116	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1777	153909116	95341505	1112	3258											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368603.1_Silent_p.T186T|CREB3L4_ENST00000271889.4_Silent_p.T186T|CREB3L4_ENST00000368601.1_Silent_p.T186T|CREB3L4_ENST00000368600.3_Silent_p.T166T|CREB3L4_ENST00000405694.3_Silent_p.T39T	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													39	156					0	0	1	0	0	T	153945234	C	T	153945234	2	4	22	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	1113	3259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356648.1_Silent_p.I114I|JTB_ENST00000368589.1_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													59	623					0	0	1	0	0	A	153947167	G	A	153947167	2	1	22	1	0	0	0	0	0	0	0	1	8011	1048	37	1		1	JTB	1	153947167	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1933	153947167	95303454	1114	3260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	145					0	0	1	0	0	T	153956050	C	T	153956050	3	4	22	1	0	0	0	0	1	0	0	0	12951	739	26	2	442	2	RAB13	1	153956050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8883	153956050	95294571	1115	3261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392558.4_3'UTR|RPS27_ENST00000493224.1_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													6	231					0.00116845	0.00118049	1	1	0	T	153964128	G	T	153964128	4	4	22	1	0	0	0	0	0	1	0	0	13690	1001	35	2	212	2	RPS27	1	153964128	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8078	153964128	95286493	1116	3262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000271854.3_Missense_Mutation_p.R1531M|NUP210L_ENST00000368553.1_Missense_Mutation_p.R464M	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													71	360					3.41413e-29	3.98584e-29	1	1	0	A	153991470	C	A	153991470	3	1	22	1	0	0	0	0	1	0	0	0	10809	681	24	2	1106	2	NUP210L	1	153991470	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27342	153991470	95259151	1117	3263											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000271854.3_Silent_p.V1373V|NUP210L_ENST00000368553.1_Silent_p.V306V	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													117	646					0	0	1	0	0	A	153998021	G	A	153998021	2	1	22	1	0	0	0	0	0	0	0	1	10809	1161	41	2		2	NUP210L	1	153998021	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6551	153998021	95252600	1118	3264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000271854.3_Missense_Mutation_p.Q1111H|NUP210L_ENST00000368553.1_Missense_Mutation_p.Q44H	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													111	322					0	0	1	0	0	G	154026854	T	G	154026854	3	3	22	1	0	0	0	0	1	0	0	0	10809	1490	52	3	2397	3	NUP210L	1	154026854	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28833	154026854	95223767	1119	3265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	524					0	0	1	0	0	C	154062023	A	C	154062023	3	2	22	1	0	0	0	0	1	0	0	0	10809	272	10	3	3531	3	NUP210L	1	154062023	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35169	154062023	95188598	1120	3266											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154142946C>A	ENST00000368533.3	-	7	647		c.e7-1		TPM3_ENST00000469717.1_Splice_Site|TPM3_ENST00000328159.4_Splice_Site|TPM3_ENST00000323144.7_Splice_Site|TPM3_ENST00000330188.9_Splice_Site|TPM3_ENST00000368530.2_Splice_Site|TPM3_ENST00000341485.5_Splice_Site|TPM3_ENST00000368531.2_Splice_Site|TPM3_ENST00000341372.3_Splice_Site|TPM3_ENST00000271850.7_Splice_Site|TPM3_ENST00000302206.5_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"								14	530					2.31682e-05	2.36778e-05	1	1	0	A	154142946	C	A	154142946	5	1	22	1	0	0	0	0	0	0	1	0	16468	695	24	2	335	2	TPM3	1	154142946	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80923	154142946	95107675	1121	3267											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368519.1_Missense_Mutation_p.A146T|C1orf43_ENST00000368516.1_Missense_Mutation_p.A130T|C1orf43_ENST00000368518.1_Missense_Mutation_p.A164T|C1orf43_ENST00000350592.3_Missense_Mutation_p.A130T|C1orf43_ENST00000362076.4_Missense_Mutation_p.A112T	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													144	357					0	0	1	0	0	T	154184951	C	T	154184951	3	4	22	1	0	0	0	0	1	0	0	0	2054	797	28	2	283	2	C1orf43	1	154184951	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42005	154184951	95065670	1122	3268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368519.1_Missense_Mutation_p.S108F|C1orf43_ENST00000368516.1_Missense_Mutation_p.S92F|C1orf43_ENST00000368518.1_Missense_Mutation_p.S126F|C1orf43_ENST00000350592.3_Missense_Mutation_p.S92F|C1orf43_ENST00000362076.4_Missense_Mutation_p.S74F	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													24	267					0	0	1	0	0	A	154185064	G	A	154185064	3	1	22	1	0	0	0	0	1	0	0	0	2054	1174	41	2	396	2	C1orf43	1	154185064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113	154185064	95065557	1123	3269											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	415					0	0	1	0	0	T	154232488	C	T	154232488	3	4	22	1	0	0	0	0	1	0	0	0	16899	739	26	2	2643	2	UBAP2L	1	154232488	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47424	154232488	95018133	1124	3270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154300337G>T	ENST00000368489.3	+	1	62	c.62_splice	c.e1+1	p.R21_splice	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													27	650					4.74835e-14	5.14536e-14	1	1	0	T	154300337	G	T	154300337	5	4	22	1	0	0	0	0	0	0	1	0	1193	1014	35	2	64	2	ATP8B2	1	154300337	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67849	154300337	94950284	1125	3271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	487					0	0	1	0	0	T	154401729	C	T	154401729	3	4	22	1	0	0	0	0	1	0	0	0	7746	652	23	1	149	1	IL6R	1	154401729	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101392	154401729	94848892	1126	3272											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	526					0	0	1	0	0	T	154420626	C	T	154420626	2	4	22	1	0	0	0	0	0	0	0	1	7746	535	19	1		1	IL6R	1	154420626	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18897	154420626	94829995	1127	3273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	397					0	0	1	0	0	A	154437670	G	A	154437670	2	1	22	1	0	0	0	0	0	0	0	1	7746	1132	40	1		1	IL6R	1	154437670	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17044	154437670	94812951	1128	3274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	115					0.0293803	0.0294705	1	1	0	A	154544331	C	A	154544331	2	1	22	1	0	0	0	0	0	0	0	1	3413	639	23	4		4	CHRNB2	1	154544331	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106661	154544331	94706290	1129	3275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000292205.5_Missense_Mutation_p.A715T|ADAR_ENST00000368471.3_Missense_Mutation_p.A377T	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|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													65	336					0	0	1	0	0	T	154569664	C	T	154569664	3	4	22	1	0	0	0	0	1	0	0	0	280	739	26	2	1710	2	ADAR	1	154569664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25333	154569664	94680957	1130	3276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000292205.5_Silent_p.I240I|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|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													201	635					0	0	1	0	0	A	154574527	G	A	154574527	2	1	22	1	0	0	0	0	0	0	0	1	280	1048	37	1		1	ADAR	1	154574527	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4863	154574527	94676094	1131	3277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000292205.5_Missense_Mutation_p.P75S|ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|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													68	257					0	0	1	0	0	A	154575024	G	A	154575024	3	1	22	1	0	0	0	0	1	0	0	0	280	1203	42	2	3642	2	ADAR	1	154575024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	497	154575024	94675597	1132	3278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154744644C>T	ENST00000271915.3	-	3	1570	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	KCNN3_ENST00000358505.2_Missense_Mutation_p.A106T|KCNN3_ENST00000361147.4_Missense_Mutation_p.A114T	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	424						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													92	313					0	0	1	0	0	T	154744644	C	T	154744644	3	4	22	1	0	0	0	0	1	0	0	0	8124	768	27	1	964	1	KCNN3	1	154744644	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169620	154744644	94505977	1133	3279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	151					6.53348e-20	7.30415e-20	1	1	0	T	154932183	G	T	154932183	3	4	22	1	0	0	0	0	1	0	0	0	12916	1000	35	2	931	2	PYGO2	1	154932183	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	187539	154932183	94318438	1134	3280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	117					0	0	1	0	0	A	154932251	G	A	154932251	2	1	22	1	0	0	0	0	0	0	0	1	12916	1335	47	2		2	PYGO2	1	154932251	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68	154932251	94318370	1135	3281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368431.3_Missense_Mutation_p.R129C|FLAD1_ENST00000292180.3_Missense_Mutation_p.R228C|FLAD1_ENST00000315144.10_Missense_Mutation_p.R131C|FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000405236.2_Missense_Mutation_p.R129C|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													8	467					0	0	1	0	0	T	154960890	C	T	154960890	3	4	22	1	0	0	0	0	1	0	0	0	5953	652	23	1	763	1	FLAD1	1	154960890	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28639	154960890	94289731	1136	3282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417934.2_Missense_Mutation_p.R372C|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R338C	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													90	230					0	0	1	0	0	T	154988148	C	T	154988148	3	4	22	1	0	0	0	0	1	0	0	0	17613	768	27	1	1014	1	ZBTB7B	1	154988148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27258	154988148	94262473	1137	3283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	263					0	0	1	0	0	G	154999185	A	G	154999185	3	3	22	1	0	0	0	0	1	0	0	0	4326	159	6	3	1000	3	DCST2	1	154999185	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11037	154999185	94251436	1138	3284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368419.2_Missense_Mutation_p.A604T|DCST1_ENST00000392480.1_Missense_Mutation_p.A604T|DCST1_ENST00000423025.2_Missense_Mutation_p.A579T	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													66	171					0	0	1	0	0	A	155020587	G	A	155020587	3	1	22	1	0	0	0	0	1	0	0	0	4325	971	34	2	1868	2	DCST1	1	155020587	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21402	155020587	94230034	1139	3285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359280.4_Silent_p.E211E|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368412.3_Silent_p.E211E|ADAM15_ENST00000360674.4_Silent_p.E211E|ADAM15_ENST00000447332.3_Silent_p.E195E|ADAM15_ENST00000449910.2_Silent_p.E211E|ADAM15_ENST00000271836.6_Silent_p.E211E|ADAM15_ENST00000355956.2_Silent_p.E211E|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000531455.1_Silent_p.E221E	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													13	564					0	0	1	0	0	A	155028286	G	A	155028286	2	1	22	1	0	0	0	0	0	0	0	1	236	933	33	2		2	ADAM15	1	155028286	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7699	155028286	94222335	1140	3286											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155104109C>A	ENST00000368407.3	+	2	905	c.388_splice	c.e2+1	p.I129_splice	EFNA1_ENST00000368406.2_Splice_Site_p.I129_splice|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													53	151					3.28156e-27	3.79657e-27	1	1	0	A	155104109	C	A	155104109	5	1	22	1	0	0	0	0	0	0	1	0	4976	927	32	2	393	2	EFNA1	1	155104109	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75823	155104109	94146512	1141	3287											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													119	458					0	0	1	0	0	A	155112460	G	A	155112460	3	1	22	1	0	0	0	0	1	0	0	0	4752	1203	42	2	25	2	DPM3	1	155112460	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8351	155112460	94138161	1142	3288											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545012.1_Intron|TRIM46_ENST00000543729.1_Missense_Mutation_p.R100H|TRIM46_ENST00000368383.3_Missense_Mutation_p.R93H|TRIM46_ENST00000334634.4_Missense_Mutation_p.R93H|TRIM46_ENST00000368382.1_Missense_Mutation_p.R70H|TRIM46_ENST00000468878.1_3'UTR			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													83	460					0	0	1	0	0	A	155148076	G	A	155148076	3	1	22	1	0	0	0	0	1	0	0	0	16582	1087	38	1	284	1	TRIM46	1	155148076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35616	155148076	94102545	1143	3289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545012.1_Missense_Mutation_p.D458N|TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000368383.3_Missense_Mutation_p.D584N|TRIM46_ENST00000334634.4_Missense_Mutation_p.D584N|TRIM46_ENST00000468878.1_3'UTR	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													13	191					0	0	1	0	0	A	155154489	G	A	155154489	3	1	22	1	0	0	0	0	1	0	0	0	16582	1058	37	1	1784	1	TRIM46	1	155154489	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6413	155154489	94096132	1144	3290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368389.2_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000337604.5_Missense_Mutation_p.F104I|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000457295.2_Missense_Mutation_p.F95I|MUC1_ENST00000368393.3_Missense_Mutation_p.F104I|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000438413.1_Missense_Mutation_p.F60I|MUC1_ENST00000368392.3_Missense_Mutation_p.F95I|MUC1_ENST00000343256.5_Silent_p.V79V|MUC1_ENST00000368390.3_Missense_Mutation_p.F86I|MUC1_ENST00000462215.1_5'UTR	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								218	653					0	0	1	0	0	T	155160512	A	T	155160512	3	4	22	1	0	0	0	0	1	0	0	0	10018	14	1	5	531	5	MUC1	1	155160512	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6023	155160512	94090109	1145	3291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Silent_p.I395I|CLK2_ENST00000536801.1_Silent_p.I396I|CLK2_ENST00000355560.4_Silent_p.I394I			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					60	316					0	0	1	0	0	A	155234050	G	A	155234050	2	1	22	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	1146	3292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Silent_p.V277V|CLK2_ENST00000536801.1_Silent_p.V278V|CLK2_ENST00000355560.4_Silent_p.V276V			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					53	147					0	0	1	0	0	A	155236524	G	A	155236524	2	1	22	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	1147	3293											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	326					0	0	1	0	0	A	155264395	G	A	155264395	2	1	22	1	0	0	0	0	0	0	0	1	12024	1368	48	2		2	PKLR	1	155264395	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27871	155264395	93986226	1148	3294											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155265358T>C	ENST00000392414.3	-	4	397	c.282_splice	c.e4-1	p.Y95_splice	PKLR_ENST00000342741.4_Splice_Site_p.Y126_splice	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													21	194					0	0	1	0	0	C	155265358	T	C	155265358	5	2	22	1	0	0	0	0	0	0	1	0	12024	1652	57	3	1379	3	PKLR	1	155265358	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	963	155265358	93985263	1149	3295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368356.4_Silent_p.Q306Q|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|FDPS_ENST00000447866.1_Silent_p.Q240Q	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													98	435					0	0	1	0	0	A	155289473	G	A	155289473	2	1	22	1	0	0	0	0	0	0	0	1	5836	933	33	2		2	FDPS	1	155289473	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24115	155289473	93961148	1150	3296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368354.3_Missense_Mutation_p.P707L|RUSC1_ENST00000368349.4_Missense_Mutation_p.P344L|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000292254.4_Missense_Mutation_p.P344L|RUSC1_ENST00000368347.4_Missense_Mutation_p.P403L	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													360	1002					0	0	1	0	0	T	155297964	C	T	155297964	3	4	22	1	0	0	0	0	1	0	0	0	13802	652	23	1	2599	1	RUSC1	1	155297964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8491	155297964	93952657	1151	3297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368354.3_Missense_Mutation_p.G782V|RUSC1_ENST00000368349.4_Missense_Mutation_p.G419V|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000292254.4_Missense_Mutation_p.G419V|RUSC1_ENST00000368347.4_Missense_Mutation_p.G478V	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													29	170					2.25844e-05	2.3098e-05	1	1	0	T	155300316	G	T	155300316	3	4	22	1	0	0	0	0	1	0	0	0	13802	1203	42	2	2828	2	RUSC1	1	155300316	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2352	155300316	93950305	1152	3298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	373					7.59065e-32	8.94676e-32	1	1	0	T	155313152	G	T	155313152	3	4	22	1	0	0	0	0	1	0	0	0	1040	971	34	2	668	2	ASH1L	1	155313152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12836	155313152	93937469	1153	3299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													234	785					0	0	1	0	0	A	155348095	G	A	155348095	2	1	22	1	0	0	0	0	0	0	0	1	1040	958	34	2		2	ASH1L	1	155348095	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34943	155348095	93902526	1154	3300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	555					0	0	1	0	0	C	155408590	A	C	155408590	3	2	22	1	0	0	0	0	1	0	0	0	1040	40	2	3	3634	3	ASH1L	1	155408590	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60495	155408590	93842031	1155	3301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392403.3_Silent_p.L408L|ASH1L_ENST00000548830.1_3'UTR			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													194	480					0	0	1	0	0	A	155451439	G	A	155451439	2	1	22	1	0	0	0	0	0	0	0	1	1040	1020	36	2		2	ASH1L	1	155451439	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42849	155451439	93799182	1156	3302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392403.3_Missense_Mutation_p.R56K|ASH1L_ENST00000548830.1_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													373	1730					0	0	1	0	0	T	155491144	C	T	155491144	3	4	22	1	0	0	0	0	1	0	0	0	1040	913	32	2	8835	2	ASH1L	1	155491144	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39705	155491144	93759477	1157	3303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_Silent_p.H200H	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													52	269					0	0	1	0	0	T	155581999	C	T	155581999	2	4	22	1	0	0	0	0	0	0	0	1	9942	535	19	1		1	MSTO1	1	155581999	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90855	155581999	93668622	1158	3304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_Missense_Mutation_p.A211T	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													93	257					0	0	1	0	0	A	155582030	G	A	155582030	3	1	22	1	0	0	0	0	1	0	0	0	9942	1203	42	2	766	2	MSTO1	1	155582030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31	155582030	93668591	1159	3305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_Silent_p.L228L	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													74	343					0	0	1	0	0	T	155582081	C	T	155582081	2	4	22	1	0	0	0	0	0	0	0	1	9942	680	24	2		2	MSTO1	1	155582081	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51	155582081	93668540	1160	3306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000535662.1_Missense_Mutation_p.V581I|YY1AP1_ENST00000407221.1_Missense_Mutation_p.V704I|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000404643.1_Missense_Mutation_p.V715I|YY1AP1_ENST00000368339.5_Missense_Mutation_p.V873I|YY1AP1_ENST00000368330.2_Missense_Mutation_p.V735I|YY1AP1_ENST00000311573.5_Missense_Mutation_p.V704I|YY1AP1_ENST00000359205.5_Missense_Mutation_p.V724I|YY1AP1_ENST00000355499.4_Missense_Mutation_p.V735I|YY1AP1_ENST00000361831.5_Missense_Mutation_p.V724I|YY1AP1_ENST00000347088.5_Missense_Mutation_p.V735I|YY1AP1_ENST00000295566.4_Missense_Mutation_p.V781I	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													114	710					0	0	1	0	0	T	155629498	C	T	155629498	3	4	22	1	0	0	0	0	1	0	0	0	17568	478	17	2	53	2	YY1AP1	1	155629498	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47417	155629498	93621123	1161	3307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P299S|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P422S|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000404643.1_Missense_Mutation_p.P433S|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P591S|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P453S|YY1AP1_ENST00000311573.5_Missense_Mutation_p.P422S|YY1AP1_ENST00000359205.5_Missense_Mutation_p.P442S|YY1AP1_ENST00000355499.4_Missense_Mutation_p.P453S|YY1AP1_ENST00000361831.5_Missense_Mutation_p.P442S|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P453S|YY1AP1_ENST00000295566.4_Missense_Mutation_p.P499S	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													95	413					0	0	1	0	0	A	155630344	G	A	155630344	3	1	22	1	0	0	0	0	1	0	0	0	17568	1232	43	2	899	2	YY1AP1	1	155630344	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	846	155630344	93620277	1162	3308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155646536A>C	ENST00000368340.5	-	4	649	c.539_splice	c.e4-1	p.F181_splice	MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000407221.1_Splice_Site_p.F32_splice|YY1AP1_ENST00000438245.2_Splice_Site_p.F43_splice|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000404643.1_Splice_Site_p.F43_splice|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000368339.5_Splice_Site_p.F181_splice|YY1AP1_ENST00000368330.2_Splice_Site_p.F43_splice|YY1AP1_ENST00000405763.3_Splice_Site_p.F181_splice|YY1AP1_ENST00000311573.5_Splice_Site_p.F32_splice|YY1AP1_ENST00000359205.5_Splice_Site_p.F32_splice|YY1AP1_ENST00000355499.4_Splice_Site_p.F43_splice|YY1AP1_ENST00000361831.5_Splice_Site_p.F32_splice|YY1AP1_ENST00000347088.5_Splice_Site_p.F43_splice|YY1AP1_ENST00000295566.4_Splice_Site_p.F109_splice	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													43	288					0	0	1	0	0	C	155646536	A	C	155646536	5	2	22	1	0	0	0	0	0	0	1	0	17568	57	2	3	2153	3	YY1AP1	1	155646536	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16192	155646536	93604085	1163	3309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368331.1_Missense_Mutation_p.A1581V|GON4L_ENST00000271883.5_Missense_Mutation_p.A1581V			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													40	110					0	0	1	0	0	A	155732150	G	A	155732150	3	1	22	1	0	0	0	0	1	0	0	0	6611	971	34	2	2020	2	GON4L	1	155732150	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85614	155732150	93518471	1164	3310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368331.1_Missense_Mutation_p.A1548S|GON4L_ENST00000271883.5_Missense_Mutation_p.A1548S			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													17	74					4.7546e-09	4.99022e-09	1	1	0	A	155733187	C	A	155733187	3	1	22	1	0	0	0	0	1	0	0	0	6611	797	28	2	2124	2	GON4L	1	155733187	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1037	155733187	93517434	1165	3311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368331.1_Missense_Mutation_p.P717L|GON4L_ENST00000361040.5_Missense_Mutation_p.P717L|GON4L_ENST00000271883.5_Missense_Mutation_p.P717L|GON4L_ENST00000471341.1_5'UTR			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													72	247					0	0	1	0	0	A	155746214	G	A	155746214	3	1	22	1	0	0	0	0	1	0	0	0	6611	1116	39	1	4757	1	GON4L	1	155746214	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13027	155746214	93504407	1166	3312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368331.1_Silent_p.P449P|GON4L_ENST00000361040.5_Silent_p.P449P|GON4L_ENST00000271883.5_Silent_p.P449P|GON4L_ENST00000471341.1_5'UTR			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													76	229					0	0	1	0	0	T	155783530	C	T	155783530	2	4	22	1	0	0	0	0	0	0	0	1	6611	755	27	1		1	GON4L	1	155783530	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37316	155783530	93467091	1167	3313											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	724					0	0	1	0	0	A	155850386	G	A	155850386	2	1	22	1	0	0	0	0	0	0	0	1	15524	1045	37	1		1	SYT11	1	155850386	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66856	155850386	93400235	1168	3314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	1037					0	0	1	0	0	T	155851195	C	T	155851195	2	4	22	1	0	0	0	0	0	0	0	1	15524	680	24	2		2	SYT11	1	155851195	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	809	155851195	93399426	1169	3315											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													182	514					5.35463e-67	6.77998e-67	1	1	0	A	155851245	C	A	155851245	2	1	22	1	0	0	0	0	0	0	0	1	15524	900	32	2		2	SYT11	1	155851245	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50	155851245	93399376	1170	3316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													340	1008					1.99316e-121	2.56657e-121	1	1	0	A	155885736	C	A	155885736	3	1	22	1	0	0	0	0	1	0	0	0	8241	797	28	2	279	2	KIAA0907	1	155885736	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34491	155885736	93364885	1171	3317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368321.3_Nonsense_Mutation_p.G379*|KIAA0907_ENST00000482337.1_5'UTR			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													61	333					5.47352e-35	6.52624e-35	1	1	0	A	155891297	C	A	155891297	4	1	22	1	0	0	0	0	0	1	0	0	8241	661	23	4	729	4	KIAA0907	1	155891297	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5561	155891297	93359324	1172	3318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368321.3_Missense_Mutation_p.V107L|KIAA0907_ENST00000482337.1_5'UTR			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													57	228					9.72345e-25	1.11288e-24	1	1	0	A	155899568	C	A	155899568	3	1	22	1	0	0	0	0	1	0	0	0	8241	565	20	2	1573	2	KIAA0907	1	155899568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8271	155899568	93351053	1173	3319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	32					0	0	1	0	0	T	156046584	C	T	156046584	2	4	22	1	0	0	0	0	0	0	0	1	9559	755	27	1		1	MEX3A	1	156046584	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147016	156046584	93204037	1174	3320											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	294					0	0	1	0	0	A	156047062	G	A	156047062	3	1	22	1	0	0	0	0	1	0	0	0	9559	1087	38	1	700	1	MEX3A	1	156047062	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	478	156047062	93203559	1175	3321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	90					0	0	1	0	0	T	156047459	C	T	156047459	3	4	22	1	0	0	0	0	1	0	0	0	9559	739	26	2	1097	2	MEX3A	1	156047459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	397	156047459	93203162	1176	3322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	108					0.00185496	0.00187281	1	1	0	A	156047474	C	A	156047474	5	1	22	1	0	0	0	0	0	0	1	0	9559	695	24	2	1112	2	MEX3A	1	156047474	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	156047474	93203147	1177	3323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156130351G>A	ENST00000368285.3	+	7	952		c.e7+1		SEMA4A_ENST00000355014.2_Splice_Site|SEMA4A_ENST00000368286.2_Splice_Site|SEMA4A_ENST00000368282.1_Splice_Site|SEMA4A_ENST00000368284.1_Splice_Site|SEMA4A_ENST00000487358.1_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													41	190					0	0	1	0	0	A	156130351	G	A	156130351	5	1	22	1	0	0	0	0	0	0	1	0	14085	1159	40	1	708	1	SEMA4A	1	156130351	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82877	156130351	93120270	1178	3324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	197					0	0	1	0	0	G	156169976	T	G	156169976	3	3	22	1	0	0	0	0	1	0	0	0	14564	1580	55	3	340	3	SLC25A44	1	156169976	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39625	156169976	93080645	1179	3325											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368279.3_Silent_p.G115G|PMF1-BGLAP_ENST00000490491.1_Silent_p.G115G|PMF1_ENST00000368273.4_Silent_p.G117G|PMF1-BGLAP_ENST00000320139.5_Silent_p.G115G|PMF1-BGLAP_ENST00000368276.4_Silent_p.G115G|PMF1_ENST00000567140.1_Silent_p.G115G|PMF1_ENST00000565805.1_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													182	494					0	0	1	0	0	T	156203496	C	T	156203496	2	4	22	1	0	0	0	0	0	0	0	1	12181	697	25	2		2	PMF1	1	156203496	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33520	156203496	93047125	1180	3326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368279.3_Missense_Mutation_p.G175V|PMF1-BGLAP_ENST00000490491.1_Intron|PMF1_ENST00000368273.4_Missense_Mutation_p.R197S|PMF1-BGLAP_ENST00000320139.5_Intron|PMF1-BGLAP_ENST00000368276.4_Intron|PMF1_ENST00000567140.1_Intron|PMF1_ENST00000565805.1_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													123	468					3.75716e-53	4.6801e-53	1	1	0	T	156209359	G	T	156209359	3	4	22	1	0	0	0	0	1	0	0	0	12181	1223	43	2	603	2	PMF1	1	156209359	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5863	156209359	93041262	1181	3327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368267.4_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													177	849					0	0	1	0	0	C	156221200	T	C	156221200	3	2	22	1	0	0	0	0	1	0	0	0	14850	1435	50	3	240	3	SMG5	1	156221200	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11841	156221200	93029421	1182	3328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368267.4_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													207	866					4.77903e-77	6.10086e-77	1	1	0	A	156238182	C	A	156238182	3	1	22	1	0	0	0	0	1	0	0	0	14850	680	24	2	2372	2	SMG5	1	156238182	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16982	156238182	93012439	1183	3329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368267.4_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													19	100					1.01871e-10	1.082e-10	1	1	0	A	156247016	C	A	156247016	3	1	22	1	0	0	0	0	1	0	0	0	14850	797	28	2	2812	2	SMG5	1	156247016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8834	156247016	93003605	1184	3330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	C1orf85_ENST00000368264.1_Missense_Mutation_p.D171N|C1orf85_ENST00000472870.1_Intron	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													30	920					0	0	1	0	0	T	156263838	C	T	156263838	3	4	22	1	0	0	0	0	1	0	0	0	2076	884	31	1	463	1	C1orf85	1	156263838	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16822	156263838	92986783	1185	3331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													148	398					0	0	1	0	0	A	156268967	G	A	156268967	3	1	22	1	0	0	0	0	1	0	0	0	17223	1087	38	1	409	1	VHLL	1	156268967	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5129	156268967	92981654	1186	3332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368261.3_Silent_p.G485G|CCT3_ENST00000368259.2_Silent_p.G492G|CCT3_ENST00000472765.2_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													152	657					0	0	1	0	0	A	156279038	G	A	156279038	2	1	22	1	0	0	0	0	0	0	0	1	2976	1074	38	1		1	CCT3	1	156279038	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10071	156279038	92971583	1187	3333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368261.3_Silent_p.G162G|CCT3_ENST00000368259.2_Silent_p.G169G|CCT3_ENST00000472765.2_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													28	259					0	0	1	0	0	A	156288797	G	A	156288797	2	1	22	1	0	0	0	0	0	0	0	1	2976	1306	46	2		2	CCT3	1	156288797	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9759	156288797	92961824	1188	3334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368261.3_Missense_Mutation_p.K33R|CCT3_ENST00000368256.3_5'UTR|CCT3_ENST00000368259.2_Missense_Mutation_p.K40R|CCT3_ENST00000472765.2_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													11	529					0	0	1	0	0	C	156303409	T	C	156303409	3	2	22	1	0	0	0	0	1	0	0	0	2976	1609	56	3	1444	3	CCT3	1	156303409	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14612	156303409	92947212	1189	3335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451864.2_5'UTR|RHBG_ENST00000400992.2_5'UTR|RHBG_ENST00000255013.3_5'UTR|RHBG_ENST00000368246.2_Silent_p.D54D|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													5	129					0	0	1	0	0	T	156339202	C	T	156339202	2	4	22	1	0	0	0	0	0	0	0	1	13374	477	17	2		2	RHBG	1	156339202	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35793	156339202	92911419	1190	3336											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451864.2_5'UTR|RHBG_ENST00000400992.2_5'UTR|RHBG_ENST00000255013.3_5'UTR|RHBG_ENST00000368246.2_Missense_Mutation_p.Q65H|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													195	678					1.92489e-79	2.46029e-79	1	1	0	T	156347099	G	T	156347099	3	4	22	1	0	0	0	0	1	0	0	0	13374	991	35	2	201	2	RHBG	1	156347099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7897	156347099	92903522	1191	3337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000353795.3_Missense_Mutation_p.A454T|MEF2D_ENST00000360595.3_Missense_Mutation_p.A493T|MEF2D_ENST00000368240.2_Missense_Mutation_p.A493T|MEF2D_ENST00000464356.1_5'UTR|MEF2D_ENST00000340875.5_Missense_Mutation_p.A499T	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													16	509					0	0	1	0	0	T	156437841	C	T	156437841	3	4	22	1	0	0	0	0	1	0	0	0	9508	797	28	2	75	2	MEF2D	1	156437841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90742	156437841	92812780	1192	3338											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	95					0	0	1	0	0	T	156499988	C	T	156499988	3	4	22	1	0	0	0	0	1	0	0	0	7860	652	23	1	602	1	IQGAP3	1	156499988	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62147	156499988	92750633	1193	3339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													131	363					0	0	1	0	0	A	156501021	G	A	156501021	2	1	22	1	0	0	0	0	0	0	0	1	7860	1103	39	1		1	IQGAP3	1	156501021	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1033	156501021	92749600	1194	3340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	167					0	0	1	0	0	A	156504303	G	A	156504303	3	1	22	1	0	0	0	0	1	0	0	0	7860	1000	35	2	1205	2	IQGAP3	1	156504303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3282	156504303	92746318	1195	3341											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*|TTC24_ENST00000495690.1_3'UTR	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													33	119					0	0	1	0	0	G	156552183	T	G	156552183	4	3	22	1	0	0	0	0	0	1	0	0	16754	1442	50	3	873	3	TTC24	1	156552183	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47880	156552183	92698438	1196	3342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													195	677					0	0	1	0	0	T	156563698	C	T	156563698	3	4	22	1	0	0	0	0	1	0	0	0	778	797	28	2	711	2	APOA1BP	1	156563698	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11515	156563698	92686923	1197	3343											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156617305G>A	ENST00000329117.4	+	4	808	c.472G>A	c.(472-474)Gtc>Atc	p.V158I	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.V158I	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	158	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													49	243					0	0	1	0	0	A	156617305	G	A	156617305	3	1	22	1	0	0	0	0	1	0	0	0	1343	1145	40	1	482	1	BCAN	1	156617305	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53607	156617305	92633316	1198	3344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156618630G>A	ENST00000329117.4	+	6	1376	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R347H	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	347	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													224	622					0	0	1	0	0	A	156618630	G	A	156618630	3	1	22	1	0	0	0	0	1	0	0	0	1343	1087	38	1	1058	1	BCAN	1	156618630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1325	156618630	92631991	1199	3345											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	490					9.58827e-17	1.05493e-16	1	1	0	T	156639369	G	T	156639369	2	4	22	1	0	0	0	0	0	0	0	1	10384	1190	42	2		2	NES	1	156639369	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20739	156639369	92611252	1200	3346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	235					0	0	1	0	0	A	156639791	G	A	156639791	2	1	22	1	0	0	0	0	0	0	0	1	10384	962	34	2		2	NES	1	156639791	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	422	156639791	92610830	1201	3347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	266					0	0	1	0	0	A	156640644	G	A	156640644	2	1	22	1	0	0	0	0	0	0	0	1	10384	1190	42	2		2	NES	1	156640644	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	853	156640644	92609977	1202	3348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	1368					4.8811e-34	5.79764e-34	1	1	0	A	156641102	C	A	156641102	4	1	22	1	0	0	0	0	0	1	0	0	10384	922	32	2	1991	2	NES	1	156641102	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	458	156641102	92609519	1203	3349											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	534					0	0	1	0	0	T	156641406	C	T	156641406	2	4	22	1	0	0	0	0	0	0	0	1	10384	610	22	2		2	NES	1	156641406	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	304	156641406	92609215	1204	3350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	264					2.43056e-48	2.99958e-48	1	1	0	T	156641882	G	T	156641882	3	4	22	1	0	0	0	0	1	0	0	0	10384	991	35	2	2771	2	NES	1	156641882	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	476	156641882	92608739	1205	3351											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156670843C>T	ENST00000368222.3	-	2	226	c.70_splice	c.e2-1	p.G24_splice	CRABP2_ENST00000368221.1_Splice_Site_p.G24_splice	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													22	260					0	0	1	0	0	T	156670843	C	T	156670843	5	4	22	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	1206	3352											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000416666.2_Missense_Mutation_p.S66Y|HDGF_ENST00000368206.5_Missense_Mutation_p.S114Y|HDGF_ENST00000537739.1_Missense_Mutation_p.S98Y|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													131	458					8.08879e-62	1.01897e-61	1	1	0	T	156714810	G	T	156714810	3	4	22	1	0	0	0	0	1	0	0	0	7059	1174	41	2	445	2	HDGF	1	156714810	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43967	156714810	92535811	1207	3353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								8	203					1.06961e-07	1.11297e-07	1	1	0	T	156764479	G	T	156764479	3	4	22	1	0	0	0	0	1	0	0	0	12499	1000	35	2	1220	2	PRCC	1	156764479	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49669	156764479	92486142	1208	3354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	480					0	0	1	0	0	T	156779246	C	T	156779246	3	4	22	1	0	0	0	0	1	0	0	0	14286	768	27	1	426	1	SH2D2A	1	156779246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14767	156779246	92471375	1209	3355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													196	984					3.38734e-80	4.33149e-80	1	1	0	T	156813243	G	T	156813243	3	4	22	1	0	0	0	0	1	0	0	0	7818	1174	41	2	1048	2	INSRR	1	156813243	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33997	156813243	92437378	1210	3356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	610					0	0	1	0	0	T	156819222	C	T	156819222	2	4	22	1	0	0	0	0	0	0	0	1	7818	912	32	2		2	INSRR	1	156819222	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5979	156819222	92431399	1211	3357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358660.3_Missense_Mutation_p.T731M|NTRK1_ENST00000392302.2_Missense_Mutation_p.T698M|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)			71	383					0	0	1	0	0	T	156849945	C	T	156849945	3	4	22	1	0	0	0	0	1	0	0	0	10754	536	19	1	2393	1	NTRK1	1	156849945	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30723	156849945	92400676	1212	3358											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													149	475					0	0	1	0	0	T	156876547	C	T	156876547	2	4	22	1	0	0	0	0	0	0	0	1	11759	564	20	2		2	PEAR1	1	156876547	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26602	156876547	92374074	1213	3359											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.P915S|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													11	704					0	0	1	0	0	A	156906623	G	A	156906623	3	1	22	1	0	0	0	0	1	0	0	0	893	1203	42	2	81	2	ARHGEF11	1	156906623	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30076	156906623	92343998	1214	3360											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.L411M|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													76	446					3.30373e-36	3.95205e-36	1	1	0	T	156913859	G	T	156913859	3	4	22	1	0	0	0	0	1	0	0	0	893	962	34	2	1625	2	ARHGEF11	1	156913859	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7236	156913859	92336762	1215	3361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	135					0	0	1	0	0	A	156928923	G	A	156928923	3	1	22	1	0	0	0	0	1	0	0	0	893	1086	38	1	3498	1	ARHGEF11	1	156928923	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15064	156928923	92321698	1216	3362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	165					0	0	1	0	0	C	156933060	A	C	156933060	3	2	22	1	0	0	0	0	1	0	0	0	893	275	10	3	3729	3	ARHGEF11	1	156933060	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4137	156933060	92317561	1217	3363											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	196					0	0	1	0	0	A	157069139	G	A	157069139	2	1	22	1	0	0	0	0	0	0	0	1	5308	1103	39	1		1	ETV3L	1	157069139	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136079	157069139	92181482	1218	3364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356953.4_Missense_Mutation_p.S800F|FCRL5_ENST00000461387.1_5'UTR	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													98	512					0	0	1	0	0	A	157490923	G	A	157490923	3	1	22	1	0	0	0	0	1	0	0	0	5831	942	33	2	562	2	FCRL5	1	157490923	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	421784	157490923	91759698	1219	3365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356953.4_Silent_p.S726S|FCRL5_ENST00000368191.3_Silent_p.S641S|FCRL5_ENST00000368190.3_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													138	340					2.44438e-75	3.11652e-75	1	1	0	T	157494130	G	T	157494130	2	4	22	1	0	0	0	0	0	0	0	1	5831	987	35	2		2	FCRL5	1	157494130	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3207	157494130	91756491	1220	3366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356953.4_Missense_Mutation_p.P590L|FCRL5_ENST00000368191.3_Missense_Mutation_p.P505L|FCRL5_ENST00000368190.3_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													96	397					0	0	1	0	0	A	157497598	G	A	157497598	3	1	22	1	0	0	0	0	1	0	0	0	5831	1116	39	1	1200	1	FCRL5	1	157497598	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3468	157497598	91753023	1221	3367											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356953.4_Silent_p.P520P|FCRL5_ENST00000368191.3_Silent_p.P435P|FCRL5_ENST00000368190.3_Silent_p.P520P|FCRL5_ENST00000368189.3_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													39	194					6.97489e-18	7.71847e-18	1	1	0	T	157504525	G	T	157504525	2	4	22	1	0	0	0	0	0	0	0	1	5831	987	35	2		2	FCRL5	1	157504525	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6927	157504525	91746096	1222	3368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356953.4_Missense_Mutation_p.R225Q|FCRL5_ENST00000368191.3_Missense_Mutation_p.R140Q|FCRL5_ENST00000368190.3_Missense_Mutation_p.R225Q|FCRL5_ENST00000368189.3_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													143	714					0	0	1	0	0	T	157514222	C	T	157514222	3	4	22	1	0	0	0	0	1	0	0	0	5831	652	23	1	2311	1	FCRL5	1	157514222	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9697	157514222	91736399	1223	3369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	146					0	0	1	0	0	A	157551412	G	A	157551412	2	1	22	1	0	0	0	0	0	0	0	1	5830	1190	42	2		2	FCRL4	1	157551412	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37190	157551412	91699209	1224	3370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368186.5_Missense_Mutation_p.A482T|FCRL3_ENST00000473231.1_5'UTR	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													115	360					0	0	1	0	0	T	157660291	C	T	157660291	3	4	22	1	0	0	0	0	1	0	0	0	5829	739	26	2	788	2	FCRL3	1	157660291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108879	157660291	91590330	1225	3371											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368186.5_Missense_Mutation_p.T234I|FCRL3_ENST00000473231.1_5'UTR	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													119	392					0	0	1	0	0	A	157667073	G	A	157667073	3	1	22	1	0	0	0	0	1	0	0	0	5829	1261	44	2	1543	2	FCRL3	1	157667073	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6782	157667073	91583548	1226	3372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358292.3_Intron|FCRL1_ENST00000489998.1_Intron|FCRL1_ENST00000491942.1_Missense_Mutation_p.G329D	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													74	378					0	0	1	0	0	T	157771268	C	T	157771268	3	4	22	1	0	0	0	0	1	0	0	0	5827	739	26	2	393	2	FCRL1	1	157771268	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104195	157771268	91479353	1227	3373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	299					0	0	1	0	0	T	157804531	C	T	157804531	2	4	22	1	0	0	0	0	0	0	0	1	3049	912	32	2		2	CD5L	1	157804531	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33263	157804531	91446090	1228	3374											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368173.3_Missense_Mutation_p.Y754C|KIRREL_ENST00000360089.4_Missense_Mutation_p.Y574C|KIRREL_ENST00000392272.2_Missense_Mutation_p.Y635C|KIRREL_ENST00000416935.2_Missense_Mutation_p.Y638C|KIRREL_ENST00000359209.6_Missense_Mutation_p.Y738C			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													41	123					0	0	1	0	0	G	158064849	A	G	158064849	3	3	22	1	0	0	0	0	1	0	0	0	8367	391	14	3	2271	3	KIRREL	1	158064849	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	260318	158064849	91185772	1229	3375											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	424					0	0	1	0	0	A	158152911	G	A	158152911	3	1	22	1	0	0	0	0	1	0	0	0	2999	971	34	2	865	2	CD1D	1	158152911	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88062	158152911	91097710	1230	3376											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	280					0	0	1	0	0	C	158225026	T	C	158225026	3	2	22	1	0	0	0	0	1	0	0	0	2996	1667	58	3	217	3	CD1A	1	158225026	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	72115	158225026	91025595	1231	3377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	560					5.01169e-05	5.1097e-05	1	1	0	T	158226772	G	T	158226772	3	4	22	1	0	0	0	0	1	0	0	0	2996	991	35	2	815	2	CD1A	1	158226772	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1746	158226772	91023849	1232	3378											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													124	347					0	0	1	0	0	A	158261152	G	A	158261152	3	1	22	1	0	0	0	0	1	0	0	0	2998	1116	39	1	296	1	CD1C	1	158261152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34380	158261152	90989469	1233	3379											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	581					0	0	1	0	0	A	158299257	G	A	158299257	2	1	22	1	0	0	0	0	0	0	0	1	2997	1161	41	2		2	CD1B	1	158299257	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38105	158299257	90951364	1234	3380											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													305	857					4.54041e-115	5.84573e-115	1	1	0	A	158299849	C	A	158299849	4	1	22	1	0	0	0	0	0	1	0	0	2997	632	22	2	617	2	CD1B	1	158299849	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	592	158299849	90950772	1235	3381											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	144					0	0	1	0	0	C	158301164	T	C	158301164	3	2	22	1	0	0	0	0	1	0	0	0	2997	1725	60	3	975	3	CD1B	1	158301164	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1315	158301164	90949457	1236	3382											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368160.3_Missense_Mutation_p.Y268H|CD1E_ENST00000368161.3_Splice_Site|CD1E_ENST00000434258.1_Missense_Mutation_p.Y266H|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368164.3_Splice_Site|CD1E_ENST00000368165.3_Missense_Mutation_p.Y178H|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368166.3_Missense_Mutation_p.Y79H|CD1E_ENST00000368156.1_Missense_Mutation_p.Y178H|CD1E_ENST00000368167.3_Missense_Mutation_p.Y268H|CD1E_ENST00000452291.2_Missense_Mutation_p.Y79H	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													41	600					0	0	1	0	0	C	158325793	T	C	158325793	3	2	22	1	0	0	0	0	1	0	0	0	3000	1652	57	3	816	3	CD1E	1	158325793	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24629	158325793	90924828	1237	3383											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	298					0	0	1	0	0	T	158368954	C	T	158368954	2	4	22	1	0	0	0	0	0	0	0	1	10967	796	28	2		2	OR10T2	1	158368954	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43161	158368954	90881667	1238	3384											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													384	1146					0	0	1	0	0	C	158450047	T	C	158450047	3	2	22	1	0	0	0	0	1	0	0	0	10965	1841	64	3	382	3	OR10R2	1	158450047	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81093	158450047	90800574	1239	3385											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	908					0	0	1	0	0	C	158450303	A	C	158450303	2	2	22	1	0	0	0	0	0	0	0	1	10965	175	7	3		3	OR10R2	1	158450303	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	256	158450303	90800318	1240	3386											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	176					0	0	1	0	0	A	158517417	G	A	158517417	3	1	22	1	0	0	0	0	1	0	0	0	11260	1029	36	2	500	2	OR6Y1	1	158517417	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67114	158517417	90733204	1241	3387											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	296					0	0	1	0	0	C	158517519	T	C	158517519	3	2	22	1	0	0	0	0	1	0	0	0	11260	1667	58	3	602	3	OR6Y1	1	158517519	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	102	158517519	90733102	1242	3388											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	211					0	0	1	0	0	G	158517703	A	G	158517703	3	3	22	1	0	0	0	0	1	0	0	0	11260	391	14	3	786	3	OR6Y1	1	158517703	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	184	158517703	90732918	1243	3389											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													196	967					0	0	1	0	0	G	158548724	A	G	158548724	2	3	22	1	0	0	0	0	0	0	0	1	10970	117	5	3		3	OR10X1	1	158548724	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31021	158548724	90701897	1244	3390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	786					0	0	1	0	0	C	158548816	T	C	158548816	3	2	22	1	0	0	0	0	1	0	0	0	10970	1638	57	3	101	3	OR10X1	1	158548816	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	92	158548816	90701805	1245	3391											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	721					0.000308642	0.000312942	1	1	0	T	158576821	G	T	158576821	3	4	22	1	0	0	0	0	1	0	0	0	10971	1000	35	2	595	2	OR10Z1	1	158576821	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28005	158576821	90673800	1246	3392											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158612750C>T	ENST00000368148.3	-	32	4639	c.4459G>A	c.(4459-4461)Gca>Aca	p.A1487T	SPTA1_ENST00000368147.3_Missense_Mutation_p.A1487T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1487					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													10	257					0	0	1	0	0	T	158612750	C	T	158612750	3	4	22	1	0	0	0	0	1	0	0	0	15172	797	28	2	2884	2	SPTA1	1	158612750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35929	158612750	90637871	1247	3393											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158617374C>T	ENST00000368148.3	-	27	4031	c.3851G>A	c.(3850-3852)aGc>aAc	p.S1284N	SPTA1_ENST00000368147.3_Missense_Mutation_p.S1284N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1284					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													79	560					0	0	1	0	0	T	158617374	C	T	158617374	3	4	22	1	0	0	0	0	1	0	0	0	15172	797	28	2	3512	2	SPTA1	1	158617374	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4624	158617374	90633247	1248	3394											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158626413C>T	ENST00000368148.3	-	20	3019	c.2839G>A	c.(2839-2841)Gat>Aat	p.D947N	SPTA1_ENST00000368147.3_Missense_Mutation_p.D947N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	947					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													139	510					0	0	1	0	0	T	158626413	C	T	158626413	3	4	22	1	0	0	0	0	1	0	0	0	15172	913	32	2	4552	2	SPTA1	1	158626413	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9039	158626413	90624208	1249	3395											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158627401G>A	ENST00000368148.3	-	19	2851	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.R891*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	891					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													251	632					0	0	1	0	0	A	158627401	G	A	158627401	4	1	22	1	0	0	0	0	0	1	0	0	15172	1095	38	1	4724	1	SPTA1	1	158627401	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	988	158627401	90623220	1250	3396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158631185C>T	ENST00000368148.3	-	18	2659	c.2479G>A	c.(2479-2481)Gct>Act	p.A827T	SPTA1_ENST00000368147.3_Missense_Mutation_p.A827T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	827					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													67	384					0	0	1	0	0	T	158631185	C	T	158631185	3	4	22	1	0	0	0	0	1	0	0	0	15172	710	25	2	4920	2	SPTA1	1	158631185	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3784	158631185	90619436	1251	3397	23	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158631186A>G	ENST00000368148.3	-	18	2658	c.2478T>C	c.(2476-2478)atT>atC	p.I826I	SPTA1_ENST00000368147.3_Silent_p.I826I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	826					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													64	383					0	0	1	0	0	G	158631186	A	G	158631186	2	3	22	1	0	0	0	0	0	0	0	1	15172	126	5	3		3	SPTA1	1	158631186	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1	158631186	90619435	1252	3398	23	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158636273C>A	ENST00000368148.3	-	16	2233	c.2053G>T	c.(2053-2055)Gag>Tag	p.E685*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.E685*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	685					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													29	156					9.39395e-14	1.01619e-13	1	1	0	A	158636273	C	A	158636273	4	1	22	1	0	0	0	0	0	1	0	0	15172	835	29	2	5354	2	SPTA1	1	158636273	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5087	158636273	90614348	1253	3399											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158639514C>A	ENST00000368148.3	-	13	1842	c.1662G>T	c.(1660-1662)aaG>aaT	p.K554N	SPTA1_ENST00000368147.3_Missense_Mutation_p.K554N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	554					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													315	923					1.50759e-95	1.93743e-95	1	1	0	A	158639514	C	A	158639514	3	1	22	1	0	0	0	0	1	0	0	0	15172	680	24	2	5757	2	SPTA1	1	158639514	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3241	158639514	90611107	1254	3400											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158641181C>T	ENST00000368148.3	-	12	1731	c.1551G>A	c.(1549-1551)aaG>aaA	p.K517K	SPTA1_ENST00000368147.3_Silent_p.K517K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	517					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													63	175					0	0	1	0	0	T	158641181	C	T	158641181	2	4	22	1	0	0	0	0	0	0	0	1	15172	796	28	2		2	SPTA1	1	158641181	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1667	158641181	90609440	1255	3401											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158650471C>T	ENST00000368148.3	-	5	760	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E194K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	194					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													136	382					0	0	1	0	0	T	158650471	C	T	158650471	3	4	22	1	0	0	0	0	1	0	0	0	15172	893	31	1	6871	1	SPTA1	1	158650471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9290	158650471	90600150	1256	3402											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158653211T>C	ENST00000368148.3	-	3	520	c.340A>G	c.(340-342)Aca>Gca	p.T114A	SPTA1_ENST00000368147.3_Missense_Mutation_p.T114A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	114					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													28	376					0	0	1	0	0	C	158653211	T	C	158653211	3	2	22	1	0	0	0	0	1	0	0	0	15172	1725	60	3	7119	3	SPTA1	1	158653211	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2740	158653211	90597410	1257	3403											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	183					1.80625e-27	2.09175e-27	1	1	0	T	158669633	G	T	158669633	3	4	22	1	0	0	0	0	1	0	0	0	11249	933	33	2	168	2	OR6K2	1	158669633	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16422	158669633	90580988	1258	3404											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	339					0	0	1	0	0	G	158669909	A	G	158669909	2	3	22	1	0	0	0	0	0	0	0	1	11249	157	6	3		3	OR6K2	1	158669909	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	276	158669909	90580712	1259	3405											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	326					2.19568e-55	2.74427e-55	1	1	0	T	158725615	G	T	158725615	3	4	22	1	0	0	0	0	1	0	0	0	11251	1000	35	2	1012	2	OR6K6	1	158725615	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55706	158725615	90525006	1260	3406											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	535					0	0	1	0	0	T	158735907	C	T	158735907	3	4	22	1	0	0	0	0	1	0	0	0	11253	710	25	2	375	2	OR6N1	1	158735907	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10292	158735907	90514714	1261	3407											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													201	793					0	0	1	0	0	G	158813851	T	G	158813851	3	3	22	1	0	0	0	0	1	0	0	0	9725	1696	59	3	519	3	MNDA	1	158813851	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	77944	158813851	90436770	1262	3408											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392252.3_Missense_Mutation_p.N247D|PYHIN1_ENST00000392254.2_Missense_Mutation_p.N256D|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													86	265					0	0	1	0	0	G	158911953	A	G	158911953	3	3	22	1	0	0	0	0	1	0	0	0	12917	14	1	3	780	3	PYHIN1	1	158911953	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	98102	158911953	90338668	1263	3409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158913768G>T	ENST00000368140.1	+	6	1436	c.1191_splice	c.e6+1	p.Q397_splice	PYHIN1_ENST00000392252.3_Splice_Site_p.Q388_splice|PYHIN1_ENST00000392254.2_Splice_Site_p.Q397_splice|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Splice_Site_p.Q388_splice	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													82	208					3.3814e-41	4.10641e-41	1	1	0	T	158913768	G	T	158913768	5	4	22	1	0	0	0	0	0	0	1	0	12917	1014	35	2	1209	2	PYHIN1	1	158913768	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1815	158913768	90336853	1264	3410											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359709.3_Start_Codon_SNP_p.M1V|IFI16_ENST00000368131.4_Start_Codon_SNP_p.M1V|IFI16_ENST00000368132.3_Start_Codon_SNP_p.M1V|IFI16_ENST00000295809.7_Start_Codon_SNP_p.M1V|IFI16_ENST00000448393.2_Start_Codon_SNP_p.M1V|IFI16_ENST00000340979.6_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													81	242					0	0	1	0	0	G	158984471	A	G	158984471	3	3	22	1	0	0	0	0	1	0	0	0	7555	333	12	3	3	3	IFI16	1	158984471	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	70703	158984471	90266150	1265	3411											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359709.3_Missense_Mutation_p.A226V|IFI16_ENST00000368131.4_Missense_Mutation_p.A282V|IFI16_ENST00000368132.3_Missense_Mutation_p.A282V|IFI16_ENST00000430894.2_Missense_Mutation_p.A230V|IFI16_ENST00000448393.2_Missense_Mutation_p.A282V|IFI16_ENST00000340979.6_Missense_Mutation_p.A282V			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													80	222					0	0	1	0	0	T	158988314	C	T	158988314	3	4	22	1	0	0	0	0	1	0	0	0	7555	797	28	2	859	2	IFI16	1	158988314	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3843	158988314	90262307	1266	3412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	441					0	0	1	0	0	G	159163241	T	G	159163241	2	3	22	1	0	0	0	0	0	0	0	1	2586	1712	60	3		3	CADM3	1	159163241	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	174927	159163241	90087380	1267	3413											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	294					0	0	1	0	0	A	159163289	G	A	159163289	2	1	22	1	0	0	0	0	0	0	0	1	2586	1020	36	2		2	CADM3	1	159163289	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	159163289	90087332	1268	3414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CADM3_ENST00000368124.4_Missense_Mutation_p.G403C|CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA	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													101	404					3.45148e-53	4.30018e-53	1	1	0	T	159170620	G	T	159170620	3	4	22	1	0	0	0	0	1	0	0	0	2586	1000	35	2	1245	2	CADM3	1	159170620	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7331	159170620	90080001	1269	3415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	375					0	0	1	0	0	A	159273844	G	A	159273844	3	1	22	1	0	0	0	0	1	0	0	0	5807	1203	42	2	213	2	FCER1A	1	159273844	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103224	159273844	89976777	1270	3416											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	296					0	0	1	0	0	A	159277659	G	A	159277659	2	1	22	1	0	0	0	0	0	0	0	1	5807	933	33	2		2	FCER1A	1	159277659	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3815	159277659	89972962	1271	3417											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	444					0	0	1	0	0	A	159283537	G	A	159283537	3	1	22	1	0	0	0	0	1	0	0	0	10959	1116	39	1	78	1	OR10J3	1	159283537	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5878	159283537	89967084	1272	3418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	479					0	0	1	0	0	T	159283813	C	T	159283813	3	4	22	1	0	0	0	0	1	0	0	0	10959	623	22	2	354	2	OR10J3	1	159283813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	276	159283813	89966808	1273	3419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													145	723					0	0	1	0	0	T	159410122	C	T	159410122	3	4	22	1	0	0	0	0	1	0	0	0	10958	652	23	1	576	1	OR10J1	1	159410122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126309	159410122	89840499	1274	3420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	489					0	0	1	0	0	T	159505736	C	T	159505736	3	4	22	1	0	0	0	0	1	0	0	0	10960	855	30	2	869	2	OR10J5	1	159505736	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95614	159505736	89744885	1275	3421											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	485					0	0	1	0	0	G	159558114	A	G	159558114	2	3	22	1	0	0	0	0	0	0	0	1	763	272	10	3		3	APCS	1	159558114	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52378	159558114	89692507	1276	3422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368097.4_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													56	139					0	0	1	0	0	T	159890321	C	T	159890321	2	4	22	1	0	0	0	0	0	0	0	1	15596	783	27	1		1	TAGLN2	1	159890321	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	332207	159890321	89360300	1277	3423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	519					0	0	1	0	0	A	159897170	G	A	159897170	3	1	22	1	0	0	0	0	1	0	0	0	7649	1203	42	2	38	2	IGSF9	1	159897170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6849	159897170	89353451	1278	3424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	522					2.08929e-35	2.49407e-35	1	1	0	A	159897224	C	A	159897224	3	1	22	1	0	0	0	0	1	0	0	0	7649	739	26	2	92	2	IGSF9	1	159897224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54	159897224	89353397	1279	3425											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	57					0	0	1	0	0	A	159899737	G	A	159899737	3	1	22	1	0	0	0	0	1	0	0	0	7649	1203	42	2	1470	2	IGSF9	1	159899737	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2513	159899737	89350884	1280	3426											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	193					0	0	1	0	0	T	160011435	C	T	160011435	2	4	22	1	0	0	0	0	0	0	0	1	8088	697	25	2		2	KCNJ10	1	160011435	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111698	160011435	89239186	1281	3427											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000314485.7_Missense_Mutation_p.G24E|IGSF8_ENST00000460351.1_5'UTR			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													6	173					0	0	1	0	0	T	160065030	C	T	160065030	3	4	22	1	0	0	0	0	1	0	0	0	7648	855	30	2	1790	2	IGSF8	1	160065030	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53595	160065030	89185591	1282	3428											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000472488.1_3'UTR|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													26	80					0	0	1	0	0	A	160094128	G	A	160094128	3	1	22	1	0	0	0	0	1	0	0	0	1128	1087	38	1	560	1	ATP1A2	1	160094128	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29098	160094128	89156493	1283	3429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000472488.1_3'UTR|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													191	865					2.49235e-71	3.16901e-71	1	1	0	A	160099109	C	A	160099109	2	1	22	1	0	0	0	0	0	0	0	1	1128	900	32	2		2	ATP1A2	1	160099109	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4981	160099109	89151512	1284	3430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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													135	397					0	0	1	0	0	A	160109761	G	A	160109761	2	1	22	1	0	0	0	0	0	0	0	1	1128	1190	42	2		2	ATP1A2	1	160109761	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10652	160109761	89140860	1285	3431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	208					0	0	1	0	0	C	160128806	T	C	160128806	2	2	22	1	0	0	0	0	0	0	0	1	1130	1771	62	3		3	ATP1A4	1	160128806	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19045	160128806	89121815	1286	3432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													157	490					0	0	1	0	0	C	160141048	T	C	160141048	3	2	22	1	0	0	0	0	1	0	0	0	1130	1435	50	3	1541	3	ATP1A4	1	160141048	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12242	160141048	89109573	1287	3433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													273	1509					0	0	1	0	0	T	160156079	C	T	160156079	3	4	22	1	0	0	0	0	1	0	0	0	1130	797	28	2	3065	2	ATP1A4	1	160156079	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15031	160156079	89094542	1288	3434											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	187					0	0	1	0	0	A	160160767	G	A	160160767	3	1	22	1	0	0	0	0	1	0	0	0	2698	1059	37	1	228	1	CASQ1	1	160160767	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4688	160160767	89089854	1289	3435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000326837.2_Missense_Mutation_p.S578I|DCAF8_ENST00000368074.1_Missense_Mutation_p.S578I|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000556710.1_Missense_Mutation_p.S732I			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													78	271					1.71382e-40	2.07847e-40	1	1	0	A	160187443	C	A	160187443	3	1	22	1	0	0	0	0	1	0	0	0	4300	797	28	2	64	2	DCAF8	1	160187443	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26676	160187443	89063178	1290	3436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Intron|PEX19_ENST00000440949.3_5'UTR	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													86	200					0	0	1	0	0	A	160253413	G	A	160253413	2	1	22	1	0	0	0	0	0	0	0	1	11792	1049	37	1		1	PEX19	1	160253413	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65970	160253413	88997208	1291	3437											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160261125C>A	ENST00000241704.7	-	31	3649	c.3420_splice	c.e31+1	p.Q1140_splice	COPA_ENST00000368069.3_Splice_Site_p.Q1149_splice	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)	161	440					5.63857e-76	7.19304e-76	1	1	0	A	160261125	C	A	160261125	5	1	22	1	0	0	0	0	0	0	1	0	3750	695	24	2	266	2	COPA	1	160261125	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7712	160261125	88989496	1292	3438											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160277034C>T	ENST00000241704.7	-	14	1450	c.1219_splice	c.e14-1	p.A407_splice	COPA_ENST00000368069.3_Splice_Site_p.A407_splice	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													175	453					0	0	1	0	0	T	160277034	C	T	160277034	5	4	22	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	1293	3439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													365	974					7.18946e-127	9.25872e-127	1	1	0	A	160312937	C	A	160312937	3	1	22	1	0	0	0	0	1	0	0	0	3750	912	32	2	3809	2	COPA	1	160312937	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35903	160312937	88937684	1294	3440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368057.3_Nonsense_Mutation_p.W55*|SLAMF6_ENST00000368055.1_Intron	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													17	1210					0	0	1	0	0	T	160466068	C	T	160466068	4	4	22	1	0	0	0	0	0	1	0	0	14423	740	26	2	861	2	SLAMF6	1	160466068	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153131	160466068	88784553	1295	3441											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368047.3_5'UTR|CD84_ENST00000534968.1_Intron|CD84_ENST00000311224.4_Missense_Mutation_p.A53D|CD84_ENST00000368051.3_Missense_Mutation_p.A53D|CD84_ENST00000368048.3_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													22	587					2.37509e-13	2.56396e-13	1	1	0	T	160535424	G	T	160535424	3	4	22	1	0	0	0	0	1	0	0	0	3064	971	34	2	907	2	CD84	1	160535424	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69356	160535424	88715197	1296	3442											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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													8	413					0	0	1	0	0	T	160651020	C	T	160651020	2	4	22	1	0	0	0	0	0	0	0	1	3042	639	23	1		1	CD48	1	160651020	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115596	160651020	88599601	1297	3443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													124	535					0	0	1	0	0	A	160654834	G	A	160654834	2	1	22	1	0	0	0	0	0	0	0	1	3042	1024	36	2		2	CD48	1	160654834	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3814	160654834	88595787	1298	3444											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	314					0	0	1	0	0	T	160851893	C	T	160851893	3	4	22	1	0	0	0	0	1	0	0	0	7954	893	31	1	702	1	ITLN1	1	160851893	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	197059	160851893	88398728	1299	3445											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'UTR	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													48	186					0	0	1	0	0	T	160914997	C	T	160914997	3	4	22	1	0	0	0	0	1	0	0	0	7955	855	30	2	70	2	ITLN2	1	160914997	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63104	160914997	88335624	1300	3446											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'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													70	416					0	0	1	0	0	T	160970463	C	T	160970463	3	4	22	1	0	0	0	0	1	0	0	0	5366	652	23	1	581	1	F11R	1	160970463	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55466	160970463	88280158	1301	3447											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													131	569					0	0	1	0	0	T	161017863	C	T	161017863	3	4	22	1	0	0	0	0	1	0	0	0	876	884	31	1	361	1	ARHGAP30	1	161017863	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47400	161017863	88232758	1302	3448											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	1147					0	0	1	0	0	G	161018943	T	G	161018943	3	3	22	1	0	0	0	0	1	0	0	0	876	1841	64	3	1441	3	ARHGAP30	1	161018943	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1080	161018943	88231678	1303	3449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000489249.1_Intron|DEDD_ENST00000458050.2_Missense_Mutation_p.L26M|DEDD_ENST00000368006.3_Missense_Mutation_p.L26M|DEDD_ENST00000368005.1_Missense_Mutation_p.L26M|DEDD_ENST00000545495.1_Missense_Mutation_p.L26M|NIT1_ENST00000368008.1_3'UTR			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													76	321					6.43283e-47	7.91128e-47	1	1	0	T	161094177	G	T	161094177	3	4	22	1	0	0	0	0	1	0	0	0	4407	991	35	2	896	2	DEDD	1	161094177	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75234	161094177	88156444	1304	3450											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-297K8.2_ENST00000420498.1_RNA|UFC1_ENST00000473766.1_3'UTR	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													54	259					0	0	1	0	0	T	161123792	C	T	161123792	3	4	22	1	0	0	0	0	1	0	0	0	16994	768	27	1	7	1	UFC1	1	161123792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29615	161123792	88126829	1305	3451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368001.1_Missense_Mutation_p.R158C|USP21_ENST00000289865.8_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													68	332					0	0	1	0	0	T	161130902	C	T	161130902	3	4	22	1	0	0	0	0	1	0	0	0	17113	652	23	1	474	1	USP21	1	161130902	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7110	161130902	88119719	1306	3452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368001.1_Silent_p.T392T|USP21_ENST00000487163.1_3'UTR|USP21_ENST00000289865.8_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													82	479					0	0	1	0	0	A	161133729	G	A	161133729	2	1	22	1	0	0	0	0	0	0	0	1	17113	1045	37	1		1	USP21	1	161133729	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2827	161133729	88116892	1307	3453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368001.1_Silent_p.S534S|USP21_ENST00000487163.1_3'UTR|USP21_ENST00000289865.8_Silent_p.S548S	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													13	328					0	0	1	0	0	T	161135183	C	T	161135183	2	4	22	1	0	0	0	0	0	0	0	1	17113	767	27	1		1	USP21	1	161135183	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1454	161135183	88115438	1308	3454											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352210.5_Missense_Mutation_p.G362D|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Missense_Mutation_p.G107D|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_3'UTR	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													99	299					0	0	1	0	0	A	161140296	G	A	161140296	3	1	22	1	0	0	0	0	1	0	0	0	12397	1203	42	2	1119	2	PPOX	1	161140296	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5113	161140296	88110325	1309	3455											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	B4GALT3_ENST00000367998.1_Silent_p.E120E|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_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													23	868					0	0	1	0	0	T	161144912	C	T	161144912	2	4	22	1	0	0	0	0	0	0	0	1	1270	796	28	2		2	B4GALT3	1	161144912	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4616	161144912	88105709	1310	3456											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161161259G>A	ENST00000367996.4	-	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	728	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													87	399					0	0	1	0	0	A	161161259	G	A	161161259	3	1	22	1	0	0	0	0	1	0	0	0	267	1203	42	2	334	2	ADAMTS4	1	161161259	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16347	161161259	88089362	1311	3457											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161168079G>A	ENST00000367996.4	-	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	113					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													35	282					0	0	1	0	0	A	161168079	G	A	161168079	2	1	22	1	0	0	0	0	0	0	0	1	267	1190	42	2		2	ADAMTS4	1	161168079	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6820	161168079	88082542	1312	3458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442691.2_Missense_Mutation_p.L206F|NR1I3_ENST00000508740.1_Missense_Mutation_p.L177F|NR1I3_ENST00000367984.4_Missense_Mutation_p.L206F|NR1I3_ENST00000412844.2_Missense_Mutation_p.L177F|NR1I3_ENST00000515621.1_Missense_Mutation_p.L131F|NR1I3_ENST00000512372.1_Missense_Mutation_p.L177F|NR1I3_ENST00000511944.1_Silent_p.Y102Y|NR1I3_ENST00000506209.1_Missense_Mutation_p.L177F|NR1I3_ENST00000428574.2_Missense_Mutation_p.L206F|NR1I3_ENST00000367982.4_Missense_Mutation_p.L206F|NR1I3_ENST00000511676.1_Missense_Mutation_p.L177F|NR1I3_ENST00000367985.3_Missense_Mutation_p.L206F|NR1I3_ENST00000508387.1_Silent_p.Y73Y|NR1I3_ENST00000511748.1_Silent_p.Y73Y|NR1I3_ENST00000504010.1_Missense_Mutation_p.L177F|NR1I3_ENST00000515452.1_Missense_Mutation_p.L206F|NR1I3_ENST00000502985.1_Silent_p.Y102Y|NR1I3_ENST00000437437.2_Missense_Mutation_p.L177F|NR1I3_ENST00000367981.3_Missense_Mutation_p.L177F|NR1I3_ENST00000367980.2_Missense_Mutation_p.L206F|NR1I3_ENST00000367979.2_Missense_Mutation_p.L206F|NR1I3_ENST00000505005.1_Missense_Mutation_p.L206F			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													143	399					0	0	1	0	0	A	161201197	G	A	161201197	3	1	22	1	0	0	0	0	1	0	0	0	10669	1029	36	2	568	2	NR1I3	1	161201197	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33118	161201197	88049424	1313	3459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360451.6_Silent_p.P80P|MPZ_ENST00000491222.2_5'UTR|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													34	181					0	0	1	0	0	A	161277072	G	A	161277072	2	1	22	1	0	0	0	0	0	0	0	1	9797	1103	39	1		1	MPZ	1	161277072	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75875	161277072	87973549	1314	3460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FCGR2A_ENST00000467525.1_Intron|FCGR2A_ENST00000367972.4_Missense_Mutation_p.T250I|FCGR2A_ENST00000461298.1_5'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)	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													34	1143					0	0	1	0	0	T	161483694	C	T	161483694	3	4	22	1	0	0	0	0	1	0	0	0	5814	565	20	2	774	2	FCGR2A	1	161483694	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206622	161483694	87766927	1315	3461											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Silent_p.D279D|FCGR2A_ENST00000461298.1_Silent_p.D15D	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													95	273					0	0	1	0	0	T	161487824	C	T	161487824	2	4	22	1	0	0	0	0	0	0	0	1	5814	564	20	2		2	FCGR2A	1	161487824	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4130	161487824	87762797	1316	3462											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Silent_p.R293R|FCGR2A_ENST00000461298.1_Silent_p.R29R	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													74	378					0	0	1	0	0	A	161487866	G	A	161487866	2	1	22	1	0	0	0	0	0	0	0	1	5814	1223	43	2		2	FCGR2A	1	161487866	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42	161487866	87762755	1317	3463											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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		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													6	148					0	0	1	0	0	T	161494843	C	T	161494843	3	4	22	1	0	0	0	0	1	0	0	0	7458	536	19	1	397	1	HSPA6	1	161494843	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6977	161494843	87755778	1318	3464											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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		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													21	120					0	0	1	0	0	C	161495182	A	C	161495182	3	2	22	1	0	0	0	0	1	0	0	0	7458	246	9	3	736	3	HSPA6	1	161495182	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	339	161495182	87755439	1319	3465											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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		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													34	152					0	0	1	0	0	A	161495386	G	A	161495386	3	1	22	1	0	0	0	0	1	0	0	0	7458	1087	38	1	940	1	HSPA6	1	161495386	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	204	161495386	87755235	1320	3466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.Q148H|FCGR3B_ENST00000367964.2_Missense_Mutation_p.Q112H	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													31	141					7.11191e-15	7.74586e-15	1	1	0	A	161596176	C	A	161596176	3	1	22	1	0	0	0	0	1	0	0	0	5818	680	24	2	373	2	FCGR3B	1	161596176	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100790	161596176	87654445	1321	3467											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367946.3_Missense_Mutation_p.P175L|FCRLB_ENST00000367945.1_Missense_Mutation_p.P168L|FCRLB_ENST00000392158.1_Missense_Mutation_p.P175L|FCRLB_ENST00000336830.5_Missense_Mutation_p.P175L|FCRLB_ENST00000367944.3_Missense_Mutation_p.P168L|FCRLB_ENST00000495397.1_3'UTR			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)	51	254					0	0	1	0	0	T	161695827	C	T	161695827	3	4	22	1	0	0	0	0	1	0	0	0	5834	652	23	1	538	1	FCRLB	1	161695827	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99651	161695827	87554794	1322	3468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	DUSP12_ENST00000484291.1_3'UTR	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													123	579					0	0	1	0	0	A	161721475	G	A	161721475	3	1	22	1	0	0	0	0	1	0	0	0	4838	1058	37	1	368	1	DUSP12	1	161721475	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25648	161721475	87529146	1323	3469											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													140	752					0	0	1	0	0	T	161821543	C	T	161821543	2	4	22	1	0	0	0	0	0	0	0	1	1083	680	24	2		2	ATF6	1	161821543	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100068	161821543	87429078	1324	3470											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	409					0	0	1	0	0	T	161970022	C	T	161970022	3	4	22	1	0	0	0	0	1	0	0	0	10906	652	23	1	1438	1	OLFML2B	1	161970022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148479	161970022	87280599	1325	3471											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	457					0	0	1	0	0	T	162324979	C	T	162324979	3	4	22	1	0	0	0	0	1	0	0	0	10589	652	23	1	624	1	NOS1AP	1	162324979	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	354957	162324979	86925642	1326	3472											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162344026T>G	ENST00000367935.4	-	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	200										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													246	713					0	0	1	0	0	G	162344026	T	G	162344026	3	3	22	1	0	0	0	0	1	0	0	0	1997	1551	54	3	191	3	C1orf111	1	162344026	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19047	162344026	86906595	1327	3473											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	151					0	0	1	0	0	A	162467986	G	A	162467986	3	1	22	1	0	0	0	0	1	0	0	0	17026	1203	42	2	248	2	UHMK1	1	162467986	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123960	162467986	86782635	1328	3474											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162737131G>A	ENST00000367922.2	+	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	425					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													61	325					0	0	1	0	0	A	162737131	G	A	162737131	4	1	22	1	0	0	0	0	0	1	0	0	4360	1212	42	2	1309	2	DDR2	1	162737131	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	269145	162737131	86513490	1329	3475											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367912.1_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													81	472					0	0	1	0	0	T	162824821	C	T	162824821	3	4	22	1	0	0	0	0	1	0	0	0	1996	710	25	2	269	2	C1orf110	1	162824821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87690	162824821	86425800	1330	3476											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367897.1_Missense_Mutation_p.G140C|PBX1_ENST00000401534.1_Missense_Mutation_p.G140C|PBX1_ENST00000559240.1_Missense_Mutation_p.G140C|PBX1_ENST00000540236.1_Missense_Mutation_p.G140C|PBX1_ENST00000540246.1_Missense_Mutation_p.G35C|PBX1_ENST00000560641.1_Missense_Mutation_p.G35C	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"								86	207					2.67039e-37	3.20554e-37	1	1	0	T	164761883	G	T	164761883	3	4	22	1	0	0	0	0	1	0	0	0	11539	1000	35	2	428	2	PBX1	1	164761883	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1937062	164761883	84488738	1331	3477											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367897.1_Silent_p.S325S|PBX1_ENST00000401534.1_Silent_p.S325S|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540236.1_Silent_p.S325S|PBX1_ENST00000540246.1_Silent_p.S220S|PBX1_ENST00000560641.1_Silent_p.S220S	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"								72	229					0	0	1	0	0	A	164781364	G	A	164781364	2	1	22	1	0	0	0	0	0	0	0	1	11539	1074	38	1		1	PBX1	1	164781364	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19481	164781364	84469257	1332	3478											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367897.1_Intron|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540236.1_Silent_p.S349S|PBX1_ENST00000540246.1_Silent_p.S244S|PBX1_ENST00000560641.1_Silent_p.S244S	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"								59	387					0	0	1	0	0	T	164789358	C	T	164789358	2	4	22	1	0	0	0	0	0	0	0	1	11539	767	27	1		1	PBX1	1	164789358	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7994	164789358	84461263	1333	3479											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	506					0	0	1	0	0	A	165173188	G	A	165173188	3	1	22	1	0	0	0	0	1	0	0	0	8902	1203	42	2	74	2	LMX1A	1	165173188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	383830	165173188	84077433	1334	3480											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													279	814					0	0	1	0	0	T	165182966	C	T	165182966	3	4	22	1	0	0	0	0	1	0	0	0	8902	768	27	1	587	1	LMX1A	1	165182966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9778	165182966	84067655	1335	3481											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_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													46	632					0	0	1	0	0	A	165513649	G	A	165513649	3	1	22	1	0	0	0	0	1	0	0	0	9055	1319	46	2	118	2	LRRC52	1	165513649	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	330683	165513649	83736972	1336	3482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	270					3.43241e-23	3.89856e-23	1	1	0	A	165634286	C	A	165634286	2	1	22	1	0	0	0	0	0	0	0	1	503	581	21	2		2	ALDH9A1	1	165634286	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120637	165634286	83616335	1337	3483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000580248.1_Missense_Mutation_p.F61V|TMCO1_ENST00000392129.6_Missense_Mutation_p.F145V|TMCO1_ENST00000464650.1_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													62	287					0	0	1	0	0	C	165712439	A	C	165712439	3	2	22	1	0	0	0	0	1	0	0	0	16055	14	1	3	141	3	TMCO1	1	165712439	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	78153	165712439	83538182	1338	3484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000580248.1_De_novo_Start_InFrame|TMCO1_ENST00000392129.6_Missense_Mutation_p.R32M|TMCO1_ENST00000464650.1_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													24	307					5.45024e-15	5.94044e-15	1	1	0	A	165737482	C	A	165737482	3	1	22	1	0	0	0	0	1	0	0	0	16055	681	24	2	495	2	TMCO1	1	165737482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25043	165737482	83513139	1339	3485											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													179	754					0	0	1	0	0	A	166039799	G	A	166039799	2	1	22	1	0	0	0	0	0	0	0	1	5659	1310	46	2		2	FAM78B	1	166039799	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302317	166039799	83210822	1340	3486	24	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													244	683					0	0	1	0	0	T	166039800	C	T	166039800	3	4	22	1	0	0	0	0	1	0	0	0	5659	797	28	2	325	2	FAM78B	1	166039800	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1	166039800	83210821	1341	3487	24	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	348					0	0	1	0	0	G	166039940	A	G	166039940	2	3	22	1	0	0	0	0	0	0	0	1	5659	214	8	3		3	FAM78B	1	166039940	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	140	166039940	83210681	1342	3488											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536514.1_Missense_Mutation_p.D100G|POGK_ENST00000537173.1_Missense_Mutation_p.D67G|POGK_ENST00000367876.4_Missense_Mutation_p.D185G			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													65	266					0	0	1	0	0	G	166818370	A	G	166818370	3	3	22	1	0	0	0	0	1	0	0	0	12233	275	10	3	568	3	POGK	1	166818370	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	778430	166818370	82432251	1343	3489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536514.1_Missense_Mutation_p.Y329C|POGK_ENST00000537173.1_Missense_Mutation_p.Y296C|POGK_ENST00000367876.4_Missense_Mutation_p.Y414C			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													38	230					0	0	1	0	0	G	166819057	A	G	166819057	3	3	22	1	0	0	0	0	1	0	0	0	12233	391	14	3	1255	3	POGK	1	166819057	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	687	166819057	82431564	1344	3490											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	616					1.32003e-05	1.35269e-05	1	1	0	A	166839020	C	A	166839020	3	1	22	1	0	0	0	0	1	0	0	0	15566	913	32	2	889	2	TADA1	1	166839020	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19963	166839020	82411601	1345	3491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367870.2_Missense_Mutation_p.N381K|MAEL_ENST00000491055.1_3'UTR	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													84	474					5.78178e-49	7.14446e-49	1	1	0	A	166991023	C	A	166991023	3	1	22	1	0	0	0	0	1	0	0	0	9200	564	20	2	1282	2	MAEL	1	166991023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152003	166991023	82259598	1346	3492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	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													169	448					1.41736e-90	1.81971e-90	1	1	0	A	167023611	C	A	167023611	3	1	22	1	0	0	0	0	1	0	0	0	6626	681	24	2	43	2	GPA33	1	167023611	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32588	167023611	82227010	1347	3493											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000271385.5_Missense_Mutation_p.Y186H|DUSP27_ENST00000443333.1_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													28	266					0	0	1	0	0	C	167088604	T	C	167088604	3	2	22	1	0	0	0	0	1	0	0	0	4850	1638	57	3	570	3	DUSP27	1	167088604	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64993	167088604	82162017	1348	3494											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000271385.5_Silent_p.Q641Q|DUSP27_ENST00000443333.1_Silent_p.Q641Q|DUSP27_ENST00000485151.1_Intron			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													28	155					0	0	1	0	0	A	167096291	G	A	167096291	2	1	22	1	0	0	0	0	0	0	0	1	4850	1020	36	2		2	DUSP27	1	167096291	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7687	167096291	82154330	1349	3495											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000271385.5_Missense_Mutation_p.Q905H|DUSP27_ENST00000443333.1_Missense_Mutation_p.Q905H|DUSP27_ENST00000485151.1_Intron			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													54	188					2.76378e-25	3.16915e-25	1	1	0	T	167097083	G	T	167097083	3	4	22	1	0	0	0	0	1	0	0	0	4850	933	33	2	2733	2	DUSP27	1	167097083	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	792	167097083	82153538	1350	3496											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000271385.5_Missense_Mutation_p.G998S|DUSP27_ENST00000443333.1_Missense_Mutation_p.G998S|DUSP27_ENST00000485151.1_Intron			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													60	379					0	0	1	0	0	A	167097360	G	A	167097360	3	1	22	1	0	0	0	0	1	0	0	0	4850	1348	47	2	3010	2	DUSP27	1	167097360	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	277	167097360	82153261	1351	3497											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000271385.5_Missense_Mutation_p.R1111M|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1111M|DUSP27_ENST00000485151.1_Intron			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													26	178					7.92952e-12	8.47903e-12	1	1	0	T	167097700	G	T	167097700	3	4	22	1	0	0	0	0	1	0	0	0	4850	1000	35	2	3350	2	DUSP27	1	167097700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	340	167097700	82152921	1352	3498											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000271385.5_Missense_Mutation_p.R1121Q|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1121Q|DUSP27_ENST00000485151.1_Intron			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													31	188					0	0	1	0	0	A	167097730	G	A	167097730	3	1	22	1	0	0	0	0	1	0	0	0	4850	1116	39	1	3380	1	DUSP27	1	167097730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30	167097730	82152891	1353	3499											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429375.2_Missense_Mutation_p.A492T|POU2F1_ENST00000367866.2_Missense_Mutation_p.A555T|POU2F1_ENST00000420254.3_Missense_Mutation_p.A532T|POU2F1_ENST00000541643.3_Missense_Mutation_p.A532T|POU2F1_ENST00000367865.1_3'UTR	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													49	266					0	0	1	0	0	A	167381303	G	A	167381303	3	1	22	1	0	0	0	0	1	0	0	0	12317	971	34	2	1644	2	POU2F1	1	167381303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	283573	167381303	81869318	1354	3500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	451					0	0	1	0	0	T	167517320	C	T	167517320	2	4	22	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	1355	3501											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	407					0	0	1	0	0	T	167663376	C	T	167663376	3	4	22	1	0	0	0	0	1	0	0	0	13237	739	26	2	329	2	RCSD1	1	167663376	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146056	167663376	81587245	1356	3502											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545172.1_Missense_Mutation_p.G1434C|ADCY10_ENST00000367851.4_Missense_Mutation_p.G1587C|ADCY10_ENST00000485964.1_5'UTR			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													22	496					2.89027e-11	3.08062e-11	1	1	0	A	167778989	C	A	167778989	3	1	22	1	0	0	0	0	1	0	0	0	292	681	24	2	77	2	ADCY10	1	167778989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115613	167778989	81471632	1357	3503											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545172.1_Missense_Mutation_p.G1157R|ADCY10_ENST00000367851.4_Missense_Mutation_p.G1310R|ADCY10_ENST00000485964.1_5'UTR			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													184	767					0	0	1	0	0	T	167793916	C	T	167793916	3	4	22	1	0	0	0	0	1	0	0	0	292	632	22	2	932	2	ADCY10	1	167793916	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14927	167793916	81456705	1358	3504											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545172.1_Missense_Mutation_p.I1129N|ADCY10_ENST00000367851.4_Missense_Mutation_p.I1282N|ADCY10_ENST00000485964.1_5'UTR			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													159	772					0	0	1	0	0	T	167793999	A	T	167793999	3	4	22	1	0	0	0	0	1	0	0	0	292	333	12	5	1015	5	ADCY10	1	167793999	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	83	167793999	81456622	1359	3505											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545172.1_Missense_Mutation_p.R1010Q|ADCY10_ENST00000367851.4_Missense_Mutation_p.R1163Q|ADCY10_ENST00000485964.1_5'UTR			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													406	1173					0	0	1	0	0	T	167802330	C	T	167802330	3	4	22	1	0	0	0	0	1	0	0	0	292	884	31	1	1380	1	ADCY10	1	167802330	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8331	167802330	81448291	1360	3506											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545172.1_Missense_Mutation_p.A286S|ADCY10_ENST00000367851.4_Missense_Mutation_p.A439S			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													11	423					3.86212e-05	3.93988e-05	1	1	0	A	167847775	C	A	167847775	3	1	22	1	0	0	0	0	1	0	0	0	292	797	28	2	3605	2	ADCY10	1	167847775	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45445	167847775	81402846	1361	3507											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545172.1_Silent_p.S111S|ADCY10_ENST00000367851.4_Silent_p.S264S			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													33	142					7.11191e-15	7.74586e-15	1	1	0	T	167863127	G	T	167863127	2	4	22	1	0	0	0	0	0	0	0	1	292	1219	43	2		2	ADCY10	1	167863127	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15352	167863127	81387494	1362	3508											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	319					0	0	1	0	0	T	167874257	C	T	167874257	3	4	22	1	0	0	0	0	1	0	0	0	292	855	30	2	4838	2	ADCY10	1	167874257	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11130	167874257	81376364	1363	3509											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	411					0	0	1	0	0	G	167874374	T	G	167874374	3	3	22	1	0	0	0	0	1	0	0	0	292	1725	60	3	4955	3	ADCY10	1	167874374	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	117	167874374	81376247	1364	3510											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367843.3_Silent_p.C139C|DCAF6_ENST00000312263.6_Silent_p.C139C|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000432587.2_Silent_p.C108C	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													40	406					0	0	1	0	0	C	167944232	T	C	167944232	2	2	22	1	0	0	0	0	0	0	0	1	4298	1673	58	3		3	DCAF6	1	167944232	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	69858	167944232	81306389	1365	3511											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	325					0	0	1	0	0	T	168153250	C	T	168153250	3	4	22	1	0	0	0	0	1	0	0	0	15986	768	27	1	221	1	TIPRL	1	168153250	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209018	168153250	81097371	1366	3512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168205957A>G	ENST00000271375.3	+	6	434	c.362A>G	c.(361-363)aAc>aGc	p.N121S	SFT2D2_ENST00000367825.3_Missense_Mutation_p.T94A|SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367829.1_Missense_Mutation_p.T94A	NM_199344.2	NP_955376.1	O95562	SFT2B_HUMAN	SFT2 domain containing 2	121					protein transport|vesicle-mediated transport	integral to membrane				lung(3)|skin(1)	4	all_hematologic(923;0.215)					CAGTGGCATAACAAGGGACTT	0.368													95	1187					0	0	1	0	0	G	168205957	A	G	168205957	3	3	22	1	0	0	0	0	1	0	0	0	14240	43	2	3	384	3	SFT2D2	1	168205957	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52707	168205957	81044664	1367	3513											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168211761G>A	ENST00000271375.3	+	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	156					protein transport|vesicle-mediated transport	integral to membrane				lung(3)|skin(1)	4	all_hematologic(923;0.215)					GAAGTGTTTTGCCGTGTGTCT	0.458													147	740					0	0	1	0	0	A	168211761	G	A	168211761	3	1	22	1	0	0	0	0	1	0	0	0	14240	1319	46	2	496	2	SFT2D2	1	168211761	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5804	168211761	81038860	1368	3514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													235	718					0	0	1	0	0	T	168260462	C	T	168260462	2	4	22	1	0	0	0	0	0	0	0	1	15714	680	24	2		2	TBX19	1	168260462	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48701	168260462	80990159	1369	3515											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169446393C>T	ENST00000236137.5	-	2	1043	c.807_splice	c.e2+1	p.P269_splice	SLC19A2_ENST00000367804.3_Intron|SLC19A2_ENST00000367802.3_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													23	712					0	0	1	0	0	T	169446393	C	T	169446393	5	4	22	1	0	0	0	0	0	0	1	0	14484	666	23	1	706	1	SLC19A2	1	169446393	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1185931	169446393	79804228	1370	3516											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													324	1040					0	0	1	0	0	T	169511289	C	T	169511289	2	4	22	1	0	0	0	0	0	0	0	1	5376	680	24	2		2	F5	1	169511289	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64896	169511289	79739332	1371	3517											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													119	558					0	0	1	0	0	G	169524465	T	G	169524465	3	3	22	1	0	0	0	0	1	0	0	0	5376	1783	62	3	5677	3	F5	1	169524465	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13176	169524465	79726156	1372	3518											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	278					6.20224e-59	7.78356e-59	1	1	0	T	169524540	G	T	169524540	3	4	22	1	0	0	0	0	1	0	0	0	5376	1261	44	2	5752	2	F5	1	169524540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75	169524540	79726081	1373	3519											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367794.2_Missense_Mutation_p.R353C|SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.R353C|SELP_ENST00000367792.2_Missense_Mutation_p.R353C|SELP_ENST00000367786.2_Missense_Mutation_p.R353C|SELP_ENST00000367793.2_Missense_Mutation_p.R353C|SELP_ENST00000458599.2_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													46	245					0	0	1	0	0	A	169578832	G	A	169578832	3	1	22	1	0	0	0	0	1	0	0	0	14073	1116	39	1	1285	1	SELP	1	169578832	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54292	169578832	79671789	1374	3520											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367794.2_Missense_Mutation_p.A28V|SELP_ENST00000367791.2_Missense_Mutation_p.A28V|SELP_ENST00000367788.2_Missense_Mutation_p.A28V|SELP_ENST00000367792.2_Missense_Mutation_p.A28V|SELP_ENST00000367786.2_Missense_Mutation_p.A28V|SELP_ENST00000367793.2_Missense_Mutation_p.A28V|SELP_ENST00000458599.2_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													25	165					0	0	1	0	0	A	169588378	G	A	169588378	3	1	22	1	0	0	0	0	1	0	0	0	14073	1203	42	2	2469	2	SELP	1	169588378	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9546	169588378	79662243	1375	3521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367781.4_Missense_Mutation_p.A528V|SELE_ENST00000367777.1_Missense_Mutation_p.A528V|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Missense_Mutation_p.A465V|SELE_ENST00000367780.4_Missense_Mutation_p.A466V|SELE_ENST00000367779.4_Missense_Mutation_p.A465V|SELE_ENST00000367775.1_Missense_Mutation_p.A466V|SELE_ENST00000367782.4_Missense_Mutation_p.A528V|SELE_ENST00000367776.1_Missense_Mutation_p.A528V	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													42	264					0	0	1	0	0	A	169695051	G	A	169695051	3	1	22	1	0	0	0	0	1	0	0	0	14067	1203	42	2	68	2	SELE	1	169695051	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106673	169695051	79555570	1376	3522	25	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367781.4_Missense_Mutation_p.F525C|SELE_ENST00000367777.1_Missense_Mutation_p.F525C|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Missense_Mutation_p.F462C|SELE_ENST00000367780.4_Missense_Mutation_p.F463C|SELE_ENST00000367779.4_Missense_Mutation_p.F462C|SELE_ENST00000367775.1_Missense_Mutation_p.F463C|SELE_ENST00000367782.4_Missense_Mutation_p.F525C|SELE_ENST00000367776.1_Missense_Mutation_p.F525C	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													8	296					0	0	1	0	0	C	169695060	A	C	169695060	3	2	22	1	0	0	0	0	1	0	0	0	14067	14	1	3	77	3	SELE	1	169695060	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9	169695060	79555561	1377	3523	25	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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													9	201					0	0	1	0	0	G	169821053	A	G	169821053	2	3	22	1	0	0	0	0	0	0	0	1	1998	69	3	3		3	C1orf112	1	169821053	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	125993	169821053	79429568	1378	3524											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169847944C>T	ENST00000367772.4	-	3	379	c.182G>A	c.(181-183)cGt>cAt	p.R61H	SCYL3_ENST00000367771.5_Missense_Mutation_p.R61H|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367770.1_Missense_Mutation_p.R61H	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	61	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													42	581					0	0	1	0	0	T	169847944	C	T	169847944	3	4	22	1	0	0	0	0	1	0	0	0	14003	536	19	1	2094	1	SCYL3	1	169847944	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26891	169847944	79402677	1379	3525											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538366.1_Missense_Mutation_p.R695C|KIFAP3_ENST00000540905.1_Missense_Mutation_p.R475C|KIFAP3_ENST00000367767.1_Missense_Mutation_p.R729C|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													29	168					0	0	1	0	0	A	169890879	G	A	169890879	3	1	22	1	0	0	0	0	1	0	0	0	8353	1145	40	1	65	1	KIFAP3	1	169890879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42935	169890879	79359742	1380	3526											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538366.1_Nonsense_Mutation_p.R572*|KIFAP3_ENST00000540905.1_Nonsense_Mutation_p.R352*|KIFAP3_ENST00000367767.1_Nonsense_Mutation_p.R606*|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													6	50					0	0	1	0	0	A	169941689	G	A	169941689	4	1	22	1	0	0	0	0	0	1	0	0	8353	1124	39	1	446	1	KIFAP3	1	169941689	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50810	169941689	79308932	1381	3527											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538366.1_Silent_p.I434I|KIFAP3_ENST00000540905.1_Silent_p.I214I|KIFAP3_ENST00000367767.1_Silent_p.I468I|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													20	222					0	0	1	0	0	A	169951979	G	A	169951979	2	1	22	1	0	0	0	0	0	0	0	1	8353	932	33	2		2	KIFAP3	1	169951979	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10290	169951979	79298642	1382	3528											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538429.1_Silent_p.N239N|FMO3_ENST00000542847.1_Silent_p.N282N	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													93	262					0	0	1	0	0	T	171083225	C	T	171083225	2	4	22	1	0	0	0	0	0	0	0	1	5989	535	19	1		1	FMO3	1	171083225	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1131246	171083225	78167396	1383	3529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FMO2_ENST00000209929.7_Missense_Mutation_p.R244H|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445290.1_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													51	221					0	0	1	0	0	A	171173107	G	A	171173107	3	1	22	1	0	0	0	0	1	0	0	0	5988	1087	38	1	749	1	FMO2	1	171173107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89882	171173107	78077514	1384	3530											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FMO2_ENST00000209929.7_Silent_p.E422E|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445290.1_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													120	649					0	0	1	0	0	G	171177942	A	G	171177942	2	3	22	1	0	0	0	0	0	0	0	1	5988	11	1	3		3	FMO2	1	171177942	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4835	171177942	78072679	1385	3531											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367750.3_Missense_Mutation_p.A207V|FMO1_ENST00000402921.2_Missense_Mutation_p.A144V|FMO1_ENST00000469112.1_3'UTR			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													8	249					0	0	1	0	0	T	171248003	C	T	171248003	3	4	22	1	0	0	0	0	1	0	0	0	5987	768	27	1	634	1	FMO1	1	171248003	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70061	171248003	78002618	1386	3532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	561					0.010729	0.0107869	1	1	0	A	171303754	C	A	171303754	2	1	22	1	0	0	0	0	0	0	0	1	5990	900	32	2		2	FMO4	1	171303754	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55751	171303754	77946867	1387	3533											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171621507C>T	ENST00000037502.5	-	1	304	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	82			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													35	440					0	0	1	0	0	T	171621507	C	T	171621507	3	4	22	1	0	0	0	0	1	0	0	0	10134	768	27	1	1281	1	MYOC	1	171621507	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	317753	171621507	77629114	1388	3534											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000362019.3_Missense_Mutation_p.A367V|METTL13_ENST00000367737.5_Missense_Mutation_p.A297V|METTL13_ENST00000458517.1_Missense_Mutation_p.A452V|METTL13_ENST00000466643.1_Intron	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													139	427					0	0	1	0	0	T	171759640	C	T	171759640	3	4	22	1	0	0	0	0	1	0	0	0	9547	768	27	1	1376	1	METTL13	1	171759640	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138133	171759640	77490981	1389	3535											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000362019.3_Missense_Mutation_p.P570H|METTL13_ENST00000367737.5_Missense_Mutation_p.P500H|METTL13_ENST00000458517.1_Missense_Mutation_p.P655H|METTL13_ENST00000466643.1_3'UTR	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													142	459					9.12202e-81	1.16676e-80	1	1	0	A	171765763	C	A	171765763	3	1	22	1	0	0	0	0	1	0	0	0	9547	681	24	2	1997	2	METTL13	1	171765763	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6123	171765763	77484858	1390	3536											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	496					0	0	1	0	0	G	172634947	A	G	172634947	3	3	22	1	0	0	0	0	1	0	0	0	5715	217	8	3	651	3	FASLG	1	172634947	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	869184	172634947	76615674	1391	3537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TNFSF18_ENST00000239468.2_Missense_Mutation_p.Q157H|RP1-15D23.2_ENST00000432694.1_RNA	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													11	410					4.68919e-08	4.88816e-08	1	1	0	A	173010570	C	A	173010570	3	1	22	1	0	0	0	0	1	0	0	0	16369	680	24	2	66	2	TNFSF18	1	173010570	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	375623	173010570	76240051	1392	3538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	171					0	0	1	0	0	T	173722355	C	T	173722355	2	4	22	1	0	0	0	0	0	0	0	1	8418	796	28	2		2	KLHL20	1	173722355	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	711785	173722355	75528266	1393	3539											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	181					0	0	1	0	0	A	173744779	G	A	173744779	3	1	22	1	0	0	0	0	1	0	0	0	8418	1145	40	1	1470	1	KLHL20	1	173744779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22424	173744779	75505842	1394	3540											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	368					0	0	1	0	0	C	173744849	T	C	173744849	2	2	22	1	0	0	0	0	0	0	0	1	8418	1702	59	3		3	KLHL20	1	173744849	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	70	173744849	75505772	1395	3541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	527					0	0	1	0	0	A	173772420	G	A	173772420	3	1	22	1	0	0	0	0	1	0	0	0	3258	1319	46	2	398	2	CENPL	1	173772420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27571	173772420	75478201	1396	3542											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	659					0	0	1	0	0	T	173878870	C	T	173878870	3	4	22	1	0	0	0	0	1	0	0	0	14163	739	26	2	433	2	SERPINC1	1	173878870	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106450	173878870	75371751	1397	3543											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	655					0	0	1	0	0	T	173881079	C	T	173881079	3	4	22	1	0	0	0	0	1	0	0	0	14163	884	31	1	932	1	SERPINC1	1	173881079	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2209	173881079	75369542	1398	3544											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367694.2_Silent_p.H669H|RC3H1_ENST00000258349.4_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													221	569					0	0	1	0	0	A	173931058	G	A	173931058	2	1	22	1	0	0	0	0	0	0	0	1	13218	1020	36	2		2	RC3H1	1	173931058	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49979	173931058	75319563	1399	3545											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	417					0	0	1	0	0	G	173947683	T	G	173947683	3	3	22	1	0	0	0	0	1	0	0	0	13218	1841	64	3	2412	3	RC3H1	1	173947683	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16625	173947683	75302938	1400	3546											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357444.6_Missense_Mutation_p.E23K|RABGAP1L_ENST00000367689.3_5'UTR	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													110	532					0	0	1	0	0	A	174190149	G	A	174190149	3	1	22	1	0	0	0	0	1	0	0	0	13017	1175	41	2	184	2	RABGAP1L	1	174190149	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242466	174190149	75060472	1401	3547											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357444.6_Missense_Mutation_p.H185R|RABGAP1L_ENST00000367689.3_5'UTR	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													79	253					0	0	1	0	0	G	174210743	A	G	174210743	3	3	22	1	0	0	0	0	1	0	0	0	13017	217	8	3	679	3	RABGAP1L	1	174210743	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20594	174210743	75039878	1402	3548											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174241551G>A	ENST00000251507.4	+	8	1160		c.e8-1		RABGAP1L_ENST00000357444.6_Splice_Site|RABGAP1L_ENST00000367689.3_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													82	407					0	0	1	0	0	A	174241551	G	A	174241551	5	1	22	1	0	0	0	0	0	0	1	0	13017	956	33	2	1012	2	RABGAP1L	1	174241551	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30808	174241551	75009070	1403	3549											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357444.6_Silent_p.P491P|RABGAP1L_ENST00000367689.3_Silent_p.P175P	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													48	559					0	0	1	0	0	A	174363157	G	A	174363157	2	1	22	1	0	0	0	0	0	0	0	1	13017	1045	37	1		1	RABGAP1L	1	174363157	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121606	174363157	74887464	1404	3550											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367679.2_Silent_p.V194V|CACYBP_ENST00000405362.1_Silent_p.V151V	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													95	236					0	0	1	0	0	C	174979110	T	C	174979110	2	2	22	1	0	0	0	0	0	0	0	1	2582	1770	62	3		3	CACYBP	1	174979110	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	615953	174979110	74271511	1405	3551											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	411					0	0	1	0	0	A	175046648	G	A	175046648	3	1	22	1	0	0	0	0	1	0	0	0	16383	1116	39	1	96	1	TNN	1	175046648	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67538	175046648	74203973	1406	3552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	65					0	0	1	0	0	T	175048561	C	T	175048561	3	4	22	1	0	0	0	0	1	0	0	0	16383	759	27	1	508	1	TNN	1	175048561	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1913	175048561	74202060	1407	3553											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	428					0	0	1	0	0	T	175049459	C	T	175049459	2	4	22	1	0	0	0	0	0	0	0	1	16383	796	28	2		2	TNN	1	175049459	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	898	175049459	74201162	1408	3554											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175299240G>T	ENST00000367674.1	-	21	4471	c.3763C>A	c.(3763-3765)Ctc>Atc	p.L1255I	TNR_ENST00000263525.2_Missense_Mutation_p.L1255I|RP3-518E13.2_ENST00000569593.1_RNA	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1255	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													102	272					9.27813e-46	1.13844e-45	1	1	0	T	175299240	G	T	175299240	3	4	22	1	0	0	0	0	1	0	0	0	16398	1029	36	2	325	2	TNR	1	175299240	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249781	175299240	73951381	1409	3555											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175304878G>A	ENST00000367674.1	-	20	4308	c.3600C>T	c.(3598-3600)ggC>ggT	p.G1200G	TNR_ENST00000263525.2_Silent_p.G1200G	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1200	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													109	576					0	0	1	0	0	A	175304878	G	A	175304878	2	1	22	1	0	0	0	0	0	0	0	1	16398	958	34	2		2	TNR	1	175304878	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5638	175304878	73945743	1410	3556											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175328762A>C	ENST00000367674.1	-	15	3668	c.2960T>G	c.(2959-2961)cTt>cGt	p.L987R	TNR_ENST00000263525.2_Missense_Mutation_p.L987R	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	987	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													10	380					0	0	1	0	0	C	175328762	A	C	175328762	3	2	22	1	0	0	0	0	1	0	0	0	16398	72	3	3	1152	3	TNR	1	175328762	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23884	175328762	73921859	1411	3557											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175331945A>C	ENST00000367674.1	-	14	3416	c.2707_splice	c.e14-1	p.V903_splice	TNR_ENST00000263525.2_Splice_Site_p.V903_splice	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	903	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													11	532					0	0	1	0	0	C	175331945	A	C	175331945	5	2	22	1	0	0	0	0	0	0	1	0	16398	173	6	3	1408	3	TNR	1	175331945	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3183	175331945	73918676	1412	3558											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175332862A>C	ENST00000367674.1	-	13	3397	c.2689T>G	c.(2689-2691)Tca>Gca	p.S897A	TNR_ENST00000263525.2_Missense_Mutation_p.S897A	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	897	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													65	326					0	0	1	0	0	C	175332862	A	C	175332862	3	2	22	1	0	0	0	0	1	0	0	0	16398	333	12	3	1431	3	TNR	1	175332862	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	917	175332862	73917759	1413	3559											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175335086C>T	ENST00000367674.1	-	11	2950	c.2242G>A	c.(2242-2244)Gca>Aca	p.A748T	TNR_ENST00000263525.2_Missense_Mutation_p.A748T	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	748	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													129	359					0	0	1	0	0	T	175335086	C	T	175335086	3	4	22	1	0	0	0	0	1	0	0	0	16398	739	26	2	1886	2	TNR	1	175335086	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2224	175335086	73915535	1414	3560											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175365935G>T	ENST00000367674.1	-	5	1693	c.985C>A	c.(985-987)Cca>Aca	p.P329T	TNR_ENST00000263525.2_Missense_Mutation_p.P329T	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	329	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													89	545					1.41191e-52	1.75639e-52	1	1	0	T	175365935	G	T	175365935	3	4	22	1	0	0	0	0	1	0	0	0	16398	1174	41	2	3167	2	TNR	1	175365935	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30849	175365935	73884686	1415	3561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175375803G>A	ENST00000367674.1	-	3	756	c.48C>T	c.(46-48)ggC>ggT	p.G16G	TNR_ENST00000263525.2_Silent_p.G16G	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	16					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													59	641					0	0	1	0	0	A	175375803	G	A	175375803	2	1	22	1	0	0	0	0	0	0	0	1	16398	1306	46	2		2	TNR	1	175375803	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9868	175375803	73874818	1416	3562											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	273					0	0	1	0	0	T	176175792	C	T	176175792	3	4	22	1	0	0	0	0	1	0	0	0	13312	797	28	2	1952	2	RFWD2	1	176175792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	799989	176175792	73074829	1417	3563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	201					0	0	1	0	0	A	176526268	G	A	176526268	2	1	22	1	0	0	0	0	0	0	0	1	11480	962	34	2		2	PAPPA2	1	176526268	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	350476	176526268	72724353	1418	3564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	443					0	0	1	0	0	T	176738773	C	T	176738773	3	4	22	1	0	0	0	0	1	0	0	0	11480	710	25	2	4465	2	PAPPA2	1	176738773	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212505	176738773	72511848	1419	3565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	309					0	0	1	0	0	G	176760572	A	G	176760572	2	3	22	1	0	0	0	0	0	0	0	1	11480	175	7	3		3	PAPPA2	1	176760572	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21799	176760572	72490049	1420	3566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	570					0	0	1	0	0	A	176769219	G	A	176769219	3	1	22	1	0	0	0	0	1	0	0	0	11480	1145	40	1	5284	1	PAPPA2	1	176769219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8647	176769219	72481402	1421	3567											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176857313G>T	ENST00000367654.2	-	18	3005	c.2992C>A	c.(2992-2994)Ctc>Atc	p.L998I	ASTN1_ENST00000367657.3_Missense_Mutation_p.L990I|ASTN1_ENST00000424564.2_Missense_Mutation_p.L990I|ASTN1_ENST00000361833.2_Missense_Mutation_p.L990I			O14525	ASTN1_HUMAN	astrotactin 1	998					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													47	245					2.64894e-19	2.95328e-19	1	1	0	T	176857313	G	T	176857313	3	4	22	1	0	0	0	0	1	0	0	0	1063	942	33	2	944	2	ASTN1	1	176857313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88094	176857313	72393308	1422	3568											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176863860C>T	ENST00000367654.2	-	17	2815	c.2802G>A	c.(2800-2802)gcG>gcA	p.A934A	ASTN1_ENST00000367657.3_Silent_p.A926A|ASTN1_ENST00000424564.2_Silent_p.A926A|ASTN1_ENST00000361833.2_Silent_p.A926A			O14525	ASTN1_HUMAN	astrotactin 1	934					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													179	574					0	0	1	0	0	T	176863860	C	T	176863860	2	4	22	1	0	0	0	0	0	0	0	1	1063	639	23	1		1	ASTN1	1	176863860	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6547	176863860	72386761	1423	3569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176915202C>T	ENST00000367654.2	-	13	2146	c.2133G>A	c.(2131-2133)acG>acA	p.T711T	ASTN1_ENST00000367657.3_Silent_p.T703T|ASTN1_ENST00000424564.2_Silent_p.T703T|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.T703T			O14525	ASTN1_HUMAN	astrotactin 1	711					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													89	443					0	0	1	0	0	T	176915202	C	T	176915202	2	4	22	1	0	0	0	0	0	0	0	1	1063	639	23	1		1	ASTN1	1	176915202	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51342	176915202	72335419	1424	3570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992602G>A	ENST00000367654.2	-	7	1389	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	ASTN1_ENST00000367657.3_Missense_Mutation_p.A459V|ASTN1_ENST00000424564.2_Missense_Mutation_p.A459V|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.A459V			O14525	ASTN1_HUMAN	astrotactin 1	459	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													28	73					0	0	1	0	0	A	176992602	G	A	176992602	3	1	22	1	0	0	0	0	1	0	0	0	1063	1203	42	2	2580	2	ASTN1	1	176992602	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77400	176992602	72258019	1425	3571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992614C>T	ENST00000367654.2	-	7	1377	c.1364G>A	c.(1363-1365)aGc>aAc	p.S455N	ASTN1_ENST00000367657.3_Missense_Mutation_p.S455N|ASTN1_ENST00000424564.2_Missense_Mutation_p.S455N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.S455N			O14525	ASTN1_HUMAN	astrotactin 1	455					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													34	75					0	0	1	0	0	T	176992614	C	T	176992614	3	4	22	1	0	0	0	0	1	0	0	0	1063	797	28	2	2592	2	ASTN1	1	176992614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12	176992614	72258007	1426	3572											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992704C>T	ENST00000367654.2	-	7	1287	c.1274G>A	c.(1273-1275)aGc>aAc	p.S425N	ASTN1_ENST00000367657.3_Missense_Mutation_p.S425N|ASTN1_ENST00000424564.2_Missense_Mutation_p.S425N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.S425N			O14525	ASTN1_HUMAN	astrotactin 1	425					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													16	123					0	0	1	0	0	T	176992704	C	T	176992704	3	4	22	1	0	0	0	0	1	0	0	0	1063	797	28	2	2682	2	ASTN1	1	176992704	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90	176992704	72257917	1427	3573											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177000083C>T	ENST00000367654.2	-	4	884	c.871G>A	c.(871-873)Gac>Aac	p.D291N	ASTN1_ENST00000367657.3_Missense_Mutation_p.D291N|ASTN1_ENST00000424564.2_Missense_Mutation_p.D291N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.D291N			O14525	ASTN1_HUMAN	astrotactin 1	291					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													70	240					0	0	1	0	0	T	177000083	C	T	177000083	3	4	22	1	0	0	0	0	1	0	0	0	1063	826	29	2	3097	2	ASTN1	1	177000083	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7379	177000083	72250538	1428	3574											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177030297T>G	ENST00000367654.2	-	2	401	c.388A>C	c.(388-390)Agc>Cgc	p.S130R	ASTN1_ENST00000367657.3_Missense_Mutation_p.S130R|ASTN1_ENST00000424564.2_Missense_Mutation_p.S130R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.S130R			O14525	ASTN1_HUMAN	astrotactin 1	130					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													261	799					0	0	1	0	0	G	177030297	T	G	177030297	3	3	22	1	0	0	0	0	1	0	0	0	1063	1609	56	3	3588	3	ASTN1	1	177030297	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30214	177030297	72220324	1429	3575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177133624C>T	ENST00000367654.2	-	1	202	c.189G>A	c.(187-189)gaG>gaA	p.E63E	ASTN1_ENST00000367657.3_Silent_p.E63E|ASTN1_ENST00000424564.2_Silent_p.E63E|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.E63E			O14525	ASTN1_HUMAN	astrotactin 1	63					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													60	184					0	0	1	0	0	T	177133624	C	T	177133624	2	4	22	1	0	0	0	0	0	0	0	1	1063	796	28	2		2	ASTN1	1	177133624	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103327	177133624	72116997	1430	3576											
FAM5B	0	broad.mit.edu	37	chr1	177247923	177247923	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgcctgcccaaggagaggTgagcaccccctggctgctac	12	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177247923T>C	ENST00000361539.4	+	7	1547		c.e7+2		FAM5B_ENST00000478325.1_Splice_Site	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN								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						CAAGGAGAGGTGAGCACCCCC	0.607													20	341					0	0	1	0	0	C	177247923	T	C	177247923	5	2	22	1	0	0	0	0	0	0	1	0	5628	1710	59	3	1259	3	FAM5B	1	177247923	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	114299	177247923	72002698	1431	3577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	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													165	584					0	0	1	0	0	T	177913771	C	T	177913771	2	4	22	1	0	0	0	0	0	0	0	1	14041	680	24	2		2	SEC16B	1	177913771	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	665848	177913771	71336850	1432	3578											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000464631.1_Missense_Mutation_p.S229F|RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.S229F|RP4-798P15.3_ENST00000354921.2_5'UTR	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													33	171					0	0	1	0	0	A	177930826	G	A	177930826	3	1	22	1	0	0	0	0	1	0	0	0	14041	942	33	2	2580	2	SEC16B	1	177930826	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17055	177930826	71319795	1433	3579											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367649.3_Missense_Mutation_p.P258H|RASAL2_ENST00000462775.1_Missense_Mutation_p.P110H	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													43	362					2.29192e-23	2.60423e-23	1	1	0	A	178408655	C	A	178408655	3	1	22	1	0	0	0	0	1	0	0	0	13116	681	24	2	812	2	RASAL2	1	178408655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	477829	178408655	70841966	1434	3580											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367649.3_Silent_p.T739T|RASAL2_ENST00000462775.1_Silent_p.T598T	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													115	1547					0	0	1	0	0	T	178425861	C	T	178425861	2	4	22	1	0	0	0	0	0	0	0	1	13116	639	23	1		1	RASAL2	1	178425861	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17206	178425861	70824760	1435	3581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367649.3_Silent_p.N947N|RASAL2_ENST00000462775.1_Silent_p.N806N	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													109	351					0	0	1	0	0	T	178427268	C	T	178427268	2	4	22	1	0	0	0	0	0	0	0	1	13116	506	18	2		2	RASAL2	1	178427268	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1407	178427268	70823353	1436	3582											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367649.3_Missense_Mutation_p.R1250W|RASAL2_ENST00000462775.1_Missense_Mutation_p.R1109W	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													81	432					0	0	1	0	0	T	178442279	C	T	178442279	3	4	22	1	0	0	0	0	1	0	0	0	13116	759	27	1	3856	1	RASAL2	1	178442279	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15011	178442279	70808342	1437	3583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367649.3_Missense_Mutation_p.L1267R|RASAL2_ENST00000462775.1_Missense_Mutation_p.L1126R	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													112	316					0	0	1	0	0	G	178442331	T	G	178442331	3	3	22	1	0	0	0	0	1	0	0	0	13116	1609	56	3	3908	3	RASAL2	1	178442331	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	52	178442331	70808290	1438	3584											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367634.2_Missense_Mutation_p.S403Y|RALGPS2_ENST00000324778.4_Missense_Mutation_p.S368Y|RALGPS2_ENST00000477383.1_3'UTR	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													147	456					6.34984e-79	8.11231e-79	1	1	0	A	178858792	C	A	178858792	3	1	22	1	0	0	0	0	1	0	0	0	13070	913	32	2	1258	2	RALGPS2	1	178858792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	416461	178858792	70391829	1439	3585											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RALGPS2_ENST00000324778.4_Missense_Mutation_p.A492D	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													69	347					4.37588e-27	5.05892e-27	1	1	0	A	178871296	C	A	178871296	3	1	22	1	0	0	0	0	1	0	0	0	13070	797	28	2	1646	2	RALGPS2	1	178871296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12504	178871296	70379325	1440	3586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	668					0	0	1	0	0	T	179033100	C	T	179033100	4	4	22	1	0	0	0	0	0	1	0	0	5570	644	23	1	627	1	FAM20B	1	179033100	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161804	179033100	70217521	1441	3587											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000511413.1_Intron|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000367623.4_Missense_Mutation_p.S767T|ABL2_ENST00000512653.1_Missense_Mutation_p.S773T|ABL2_ENST00000408940.3_Missense_Mutation_p.S752T|ABL2_ENST00000344730.3_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								157	476					0	0	1	0	0	T	179078040	A	T	179078040	3	4	22	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	1442	3588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000511413.1_Intron|ABL2_ENST00000392043.3_Intron|ABL2_ENST00000502732.1_Intron|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000367623.4_Intron|ABL2_ENST00000512653.1_Missense_Mutation_p.D35N|ABL2_ENST00000344730.3_Missense_Mutation_p.D35N|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								33	168					0	0	1	0	0	T	179112077	C	T	179112077	3	4	22	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	1443	3589											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	234					0	0	1	0	0	T	179533830	C	T	179533830	3	4	22	1	0	0	0	0	1	0	0	0	10630	536	19	1	806	1	NPHS2	1	179533830	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	421753	179533830	69716791	1444	3590											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	250					0	0	1	0	0	A	179564779	G	A	179564779	2	1	22	1	0	0	0	0	0	0	0	1	15792	962	34	2		2	TDRD5	1	179564779	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30949	179564779	69685842	1445	3591											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	295					2.48254e-18	2.75398e-18	1	1	0	A	179638537	C	A	179638537	3	1	22	1	0	0	0	0	1	0	0	0	15792	913	32	2	2754	2	TDRD5	1	179638537	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73758	179638537	69612084	1446	3592											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	266					0	0	1	0	0	T	179782952	C	T	179782952	2	4	22	1	0	0	0	0	0	0	0	1	5506	535	19	1		1	FAM163A	1	179782952	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144415	179782952	69467669	1447	3593											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*		NM_001199260.1|NM_145034.4	NP_001186189.1|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													89	483					3.77759e-48	4.65876e-48	1	1	0	A	179820358	C	A	179820358	4	1	22	1	0	0	0	0	0	1	0	0	16434	922	32	2	1249	2	TOR1AIP2	1	179820358	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37406	179820358	69430263	1448	3594											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	51					0	0	1	0	0	G	179983348	A	G	179983348	3	3	22	1	0	0	0	0	1	0	0	0	3276	14	1	3	1794	3	CEP350	1	179983348	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	162990	179983348	69267273	1449	3595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	207					0	0	1	0	0	A	180017679	G	A	180017679	3	1	22	1	0	0	0	0	1	0	0	0	3276	1029	36	2	4713	2	CEP350	1	180017679	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34331	180017679	69232942	1450	3596											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	164					0	0	1	0	0	G	180022124	A	G	180022124	2	3	22	1	0	0	0	0	0	0	0	1	3276	175	7	3		3	CEP350	1	180022124	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4445	180022124	69228497	1451	3597											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	358					0	0	1	0	0	T	180155237	C	T	180155237	3	4	22	1	0	0	0	0	1	0	0	0	12935	759	27	1	967	1	QSOX1	1	180155237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133113	180155237	69095384	1452	3598											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													178	548					0	0	1	0	0	C	180772672	A	C	180772672	3	2	22	1	0	0	0	0	1	0	0	0	17511	40	2	3	386	3	XPR1	1	180772672	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	617435	180772672	68477949	1453	3599											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	242					0	0	1	0	0	T	180793991	C	T	180793991	3	4	22	1	0	0	0	0	1	0	0	0	17511	536	19	1	896	1	XPR1	1	180793991	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21319	180793991	68456630	1454	3600											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													213	599					0	0	1	0	0	A	180794394	G	A	180794394	3	1	22	1	0	0	0	0	1	0	0	0	17511	1319	46	2	1082	2	XPR1	1	180794394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	403	180794394	68456227	1455	3601											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	283					0	0	1	0	0	T	180849411	C	T	180849411	3	4	22	1	0	0	0	0	1	0	0	0	17511	768	27	1	2062	1	XPR1	1	180849411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55017	180849411	68401210	1456	3602											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	259					0	0	1	0	0	T	180886166	C	T	180886166	2	4	22	1	0	0	0	0	0	0	0	1	8290	535	19	1		1	KIAA1614	1	180886166	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36755	180886166	68364455	1457	3603											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	75					0	0	1	0	0	T	180904329	C	T	180904329	2	4	22	1	0	0	0	0	0	0	0	1	8290	767	27	1		1	KIAA1614	1	180904329	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18163	180904329	68346292	1458	3604											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	58					0	0	1	0	0	A	180904637	G	A	180904637	3	1	22	1	0	0	0	0	1	0	0	0	8290	1203	42	2	1610	2	KIAA1614	1	180904637	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	308	180904637	68345984	1459	3605											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													142	623					2.93227e-69	3.72104e-69	1	1	0	T	180905169	G	T	180905169	3	4	22	1	0	0	0	0	1	0	0	0	8290	962	34	2	2142	2	KIAA1614	1	180905169	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	532	180905169	68345452	1460	3606											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367579.3_Missense_Mutation_p.D21N|MR1_ENST00000438435.2_3'UTR|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													32	176					0	0	1	0	0	A	181003204	G	A	181003204	3	1	22	1	0	0	0	0	1	0	0	0	9801	1058	37	1	63	1	MR1	1	181003204	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98035	181003204	68247417	1461	3607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367579.3_Missense_Mutation_p.C138Y|MR1_ENST00000438435.2_3'UTR|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													70	367					0	0	1	0	0	A	181019366	G	A	181019366	3	1	22	1	0	0	0	0	1	0	0	0	9801	1377	48	2	558	2	MR1	1	181019366	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16162	181019366	68231255	1462	3608											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367579.3_Silent_p.E236E|MR1_ENST00000438435.2_Intron|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													31	237					0	0	1	0	0	A	181021609	G	A	181021609	2	1	22	1	0	0	0	0	0	0	0	1	9801	962	34	2		2	MR1	1	181021609	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2243	181021609	68229012	1463	3609											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367573.2_Missense_Mutation_p.F340Y|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F340Y|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F340Y|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F291Y|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F291Y	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													77	437					0	0	1	0	0	A	181620541	T	A	181620541	3	1	22	1	0	0	0	0	1	0	0	0	2560	1783	62	5	1045	5	CACNA1E	1	181620541	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	598932	181620541	67630080	1464	3610											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367573.2_Silent_p.G531G|CACNA1E_ENST00000367567.4_Silent_p.G138G|CACNA1E_ENST00000360108.3_Silent_p.G531G|CACNA1E_ENST00000367570.1_Silent_p.G531G|CACNA1E_ENST00000358338.5_Silent_p.G482G|CACNA1E_ENST00000357570.5_Silent_p.G482G	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													33	135					0	0	1	0	0	A	181687258	G	A	181687258	2	1	22	1	0	0	0	0	0	0	0	1	2560	1190	42	2		2	CACNA1E	1	181687258	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66717	181687258	67563363	1465	3611											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367573.2_Missense_Mutation_p.T693M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T300M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T693M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T693M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T644M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T644M	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													23	79					0	0	1	0	0	T	181693609	C	T	181693609	3	4	22	1	0	0	0	0	1	0	0	0	2560	536	19	1	2144	1	CACNA1E	1	181693609	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6351	181693609	67557012	1466	3612											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367573.2_Silent_p.L699L|CACNA1E_ENST00000367567.4_Silent_p.L306L|CACNA1E_ENST00000360108.3_Silent_p.L699L|CACNA1E_ENST00000367570.1_Silent_p.L699L|CACNA1E_ENST00000358338.5_Silent_p.L650L|CACNA1E_ENST00000357570.5_Silent_p.L650L	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													17	79					0	0	1	0	0	A	181693628	G	A	181693628	2	1	22	1	0	0	0	0	0	0	0	1	2560	1339	47	2		2	CACNA1E	1	181693628	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19	181693628	67556993	1467	3613											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367573.2_Missense_Mutation_p.R920H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R527H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R901H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R920H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R852H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R871H	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													95	531					0	0	1	0	0	A	181701981	G	A	181701981	3	1	22	1	0	0	0	0	1	0	0	0	2560	1087	38	1	2837	1	CACNA1E	1	181701981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8353	181701981	67548640	1468	3614	26	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367573.2_Silent_p.S921S|CACNA1E_ENST00000367567.4_Silent_p.S528S|CACNA1E_ENST00000360108.3_Silent_p.S902S|CACNA1E_ENST00000367570.1_Silent_p.S921S|CACNA1E_ENST00000358338.5_Silent_p.S853S|CACNA1E_ENST00000357570.5_Silent_p.S872S	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													64	574					0	0	1	0	0	T	181701985	C	T	181701985	2	4	22	1	0	0	0	0	0	0	0	1	2560	738	26	2		2	CACNA1E	1	181701985	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4	181701985	67548636	1469	3615	26	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367573.2_Missense_Mutation_p.A978D|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A585D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A959D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A978D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A910D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A929D	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													29	174					1.77063e-15	1.9355e-15	1	1	0	A	181702155	C	A	181702155	3	1	22	1	0	0	0	0	1	0	0	0	2560	739	26	2	3011	2	CACNA1E	1	181702155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170	181702155	67548466	1470	3616											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367573.2_Missense_Mutation_p.L1597M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L1204M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L1578M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.L1597M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L1529M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L1548M	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													33	156					7.16026e-08	7.45543e-08	1	1	0	A	181732641	C	A	181732641	3	1	22	1	0	0	0	0	1	0	0	0	2560	796	28	2	4923	2	CACNA1E	1	181732641	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30486	181732641	67517980	1471	3617											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367573.2_Silent_p.F1708F|CACNA1E_ENST00000367567.4_Silent_p.F1315F|CACNA1E_ENST00000360108.3_Silent_p.F1689F|CACNA1E_ENST00000367570.1_Silent_p.F1708F|CACNA1E_ENST00000358338.5_Silent_p.F1640F|CACNA1E_ENST00000357570.5_Silent_p.F1659F	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													190	562					0	0	1	0	0	T	181741352	C	T	181741352	2	4	22	1	0	0	0	0	0	0	0	1	2560	912	32	2		2	CACNA1E	1	181741352	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8711	181741352	67509269	1472	3618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526775.1_Intron|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P2002S|CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1983S|CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000358338.5_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													22	68					0	0	1	0	0	T	181762906	C	T	181762906	3	4	22	1	0	0	0	0	1	0	0	0	2560	754	26	2		2	CACNA1E	1	181762906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21554	181762906	67487715	1473	3619											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367573.2_Silent_p.R2288R|CACNA1E_ENST00000367567.4_Silent_p.R1852R|CACNA1E_ENST00000360108.3_Silent_p.R2269R|CACNA1E_ENST00000367570.1_Silent_p.R2245R|CACNA1E_ENST00000358338.5_Silent_p.R2177R|CACNA1E_ENST00000357570.5_Silent_p.R2239R	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													40	91					0	0	1	0	0	T	181767892	C	T	181767892	2	4	22	1	0	0	0	0	0	0	0	1	2560	755	27	1		1	CACNA1E	1	181767892	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4986	181767892	67482729	1474	3620											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	63					0	0	1	0	0	T	182026331	C	T	182026331	3	4	22	1	0	0	0	0	1	0	0	0	18120	768	27	1	895	1	ZNF648	1	182026331	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	258439	182026331	67224290	1475	3621											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	208					0	0	1	0	0	T	182026618	C	T	182026618	2	4	22	1	0	0	0	0	0	0	0	1	18120	755	27	1		1	ZNF648	1	182026618	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	287	182026618	67224003	1476	3622											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000444138.1_Missense_Mutation_p.E262D|RNASEL_ENST00000539397.1_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													41	399					8.16277e-20	9.1228e-20	1	1	0	A	182555156	C	A	182555156	3	1	22	1	0	0	0	0	1	0	0	0	13468	796	28	2	1463	2	RNASEL	1	182555156	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	528538	182555156	66695465	1477	3623											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367556.1_Missense_Mutation_p.A54V|RGS8_ENST00000258302.4_Missense_Mutation_p.A72V|RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367557.4_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													113	574					0	0	1	0	0	A	182635136	G	A	182635136	3	1	22	1	0	0	0	0	1	0	0	0	13362	1319	46	2	393	2	RGS8	1	182635136	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79980	182635136	66615485	1478	3624											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													138	421					0	0	1	0	0	T	182844012	C	T	182844012	4	4	22	1	0	0	0	0	0	1	0	0	4544	827	29	2	1796	2	DHX9	1	182844012	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208876	182844012	66406609	1479	3625											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	190					0	0	1	0	0	G	182846018	T	G	182846018	2	3	22	1	0	0	0	0	0	0	0	1	4544	1828	64	3		3	DHX9	1	182846018	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2006	182846018	66404603	1480	3626											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	283					0	0	1	0	0	T	182847247	C	T	182847247	4	4	22	1	0	0	0	0	0	1	0	0	4544	760	27	1	2364	1	DHX9	1	182847247	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1229	182847247	66403374	1481	3627											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	820					0	0	1	0	0	T	182850546	C	T	182850546	2	4	22	1	0	0	0	0	0	0	0	1	4544	668	24	2		2	DHX9	1	182850546	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3299	182850546	66400075	1482	3628											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	317					0	0	1	0	0	T	182852411	C	T	182852411	3	4	22	1	0	0	0	0	1	0	0	0	4544	768	27	1	3146	1	DHX9	1	182852411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1865	182852411	66398210	1483	3629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	295					0	0	1	0	0	A	183093910	G	A	183093910	3	1	22	1	0	0	0	0	1	0	0	0	8653	1319	46	2	2600	2	LAMC1	1	183093910	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241499	183093910	66156711	1484	3630											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	445					0.00448238	0.00451339	1	1	0	T	183103869	G	T	183103869	3	4	22	1	0	0	0	0	1	0	0	0	8653	991	35	2	4014	2	LAMC1	1	183103869	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9959	183103869	66146752	1485	3631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	790					0.0167234	0.0167961	1	1	0	T	183194779	G	T	183194779	3	4	22	1	0	0	0	0	1	0	0	0	8654	962	34	2	1020	2	LAMC2	1	183194779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90910	183194779	66055842	1486	3632											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	321					0	0	1	0	0	T	183200178	C	T	183200178	2	4	22	1	0	0	0	0	0	0	0	1	8654	726	26	2		2	LAMC2	1	183200178	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5399	183200178	66050443	1487	3633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	364					0	0	1	0	0	A	183212466	G	A	183212466	2	1	22	1	0	0	0	0	0	0	0	1	8654	933	33	2		2	LAMC2	1	183212466	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12288	183212466	66038155	1488	3634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515829.2_Missense_Mutation_p.T589I|SMG7_ENST00000456731.2_Missense_Mutation_p.T547I|SMG7_ENST00000507469.1_Missense_Mutation_p.T589I			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													138	356					0	0	1	0	0	T	183513549	C	T	183513549	3	4	22	1	0	0	0	0	1	0	0	0	14852	565	20	2	1962	2	SMG7	1	183513549	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	301083	183513549	65737072	1489	3635											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367536.1_Silent_p.T361T|NCF2_ENST00000367535.3_Silent_p.T361T|NCF2_ENST00000469280.1_5'UTR	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													109	590					0	0	1	0	0	T	183532664	C	T	183532664	2	4	22	1	0	0	0	0	0	0	0	1	10264	639	23	1		1	NCF2	1	183532664	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19115	183532664	65717957	1490	3636											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367536.1_Missense_Mutation_p.L114I|NCF2_ENST00000367535.3_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													66	354					5.32961e-40	6.45334e-40	1	1	0	T	183546760	G	T	183546760	3	4	22	1	0	0	0	0	1	0	0	0	10264	971	34	2	1292	2	NCF2	1	183546760	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14096	183546760	65703861	1491	3637											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367534.1_Missense_Mutation_p.V14A|ARPC5_ENST00000294742.6_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													51	332					0	0	1	0	0	G	183604754	A	G	183604754	3	3	22	1	0	0	0	0	1	0	0	0	973	159	6	3	430	3	ARPC5	1	183604754	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	57994	183604754	65645867	1492	3638											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183816811G>T	ENST00000304685.3	+	4	816	c.355G>T	c.(355-357)Gct>Tct	p.A119S	RGL1_ENST00000360851.3_Missense_Mutation_p.A84S|RGL1_ENST00000539189.1_Missense_Mutation_p.A84S|RGL1_ENST00000536277.1_Missense_Mutation_p.A82S|RGL1_ENST00000367531.1_Missense_Mutation_p.A119S	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	84	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													17	737					2.23348e-06	2.30073e-06	1	1	0	T	183816811	G	T	183816811	3	4	22	1	0	0	0	0	1	0	0	0	13328	971	34	2	365	2	RGL1	1	183816811	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	212057	183816811	65433810	1493	3639											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183874037T>G	ENST00000304685.3	+	14	1970	c.1509T>G	c.(1507-1509)taT>taG	p.Y503*	RGL1_ENST00000360851.3_Nonsense_Mutation_p.Y468*|RGL1_ENST00000539189.1_Nonsense_Mutation_p.Y439*|RGL1_ENST00000536277.1_Nonsense_Mutation_p.Y466*|RGL1_ENST00000367531.1_Nonsense_Mutation_p.Y503*	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	468					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													170	473					0	0	1	0	0	G	183874037	T	G	183874037	4	3	22	1	0	0	0	0	0	1	0	0	13328	1500	52	3	1559	3	RGL1	1	183874037	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	57226	183874037	65376584	1494	3640											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	201					2.43199e-30	2.85193e-30	1	1	0	A	184859344	C	A	184859344	4	1	22	1	0	0	0	0	0	1	0	0	5467	690	24	2	2499	2	FAM129A	1	184859344	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	985307	184859344	64391277	1495	3641											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367497.1_Missense_Mutation_p.G69E|IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR	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													72	215					0	0	1	0	0	T	185278210	C	T	185278210	3	4	22	1	0	0	0	0	1	0	0	0	7974	855	30	2	1770	2	IVNS1ABP	1	185278210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	418866	185278210	63972411	1496	3642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	289					2.89027e-11	3.08062e-11	1	1	0	A	185894259	C	A	185894259	3	1	22	1	0	0	0	0	1	0	0	0	7261	913	32	2	1400	2	HMCN1	1	185894259	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	616049	185894259	63356362	1497	3643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	244					0	0	1	0	0	T	185969264	C	T	185969264	3	4	22	1	0	0	0	0	1	0	0	0	7261	478	17	2	4064	2	HMCN1	1	185969264	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75005	185969264	63281357	1498	3644											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	324					0	0	1	0	0	G	185992272	A	G	185992272	2	3	22	1	0	0	0	0	0	0	0	1	7261	40	2	3		3	HMCN1	1	185992272	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23008	185992272	63258349	1499	3645											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	377					0	0	1	0	0	C	186022185	A	C	186022185	3	2	22	1	0	0	0	0	1	0	0	0	7261	14	1	3	6849	3	HMCN1	1	186022185	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29913	186022185	63228436	1500	3646											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	439					0	0	1	0	0	T	186024739	C	T	186024739	2	4	22	1	0	0	0	0	0	0	0	1	7261	726	26	2		2	HMCN1	1	186024739	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2554	186024739	63225882	1501	3647											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	122					0	0	1	0	0	A	186034555	G	A	186034555	3	1	22	1	0	0	0	0	1	0	0	0	7261	1377	48	2	7893	2	HMCN1	1	186034555	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9816	186034555	63216066	1502	3648											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	459					0	0	1	0	0	A	186039890	G	A	186039890	5	1	22	1	0	0	0	0	0	0	1	0	7261	1217	42	2	8346	2	HMCN1	1	186039890	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5335	186039890	63210731	1503	3649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	192					0	0	1	0	0	T	186052023	C	T	186052023	2	4	22	1	0	0	0	0	0	0	0	1	7261	874	31	1		1	HMCN1	1	186052023	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12133	186052023	63198598	1504	3650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	96					0	0	1	0	0	C	186057863	A	C	186057863	3	2	22	1	0	0	0	0	1	0	0	0	7261	247	9	3	9953	3	HMCN1	1	186057863	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5840	186057863	63192758	1505	3651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	269					0	0	1	0	0	A	186088957	G	A	186088957	3	1	22	1	0	0	0	0	1	0	0	0	7261	1000	35	2	12351	2	HMCN1	1	186088957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31094	186088957	63161664	1506	3652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	319					0	0	1	0	0	C	186097274	T	C	186097274	3	2	22	1	0	0	0	0	1	0	0	0	7261	1667	58	3	13085	3	HMCN1	1	186097274	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8317	186097274	63153347	1507	3653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	366					0	0	1	0	0	G	186113795	T	G	186113795	3	3	22	1	0	0	0	0	1	0	0	0	7261	1693	59	3	14588	3	HMCN1	1	186113795	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16521	186113795	63136826	1508	3654											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367485.4_Intron|PRG4_ENST00000367484.3_Missense_Mutation_p.K102Q|PRG4_ENST00000367486.3_Missense_Mutation_p.K143Q	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													43	283					0	0	1	0	0	C	186273347	A	C	186273347	3	2	22	1	0	0	0	0	1	0	0	0	12533	247	9	3	441	3	PRG4	1	186273347	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	159552	186273347	62977274	1509	3655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367485.4_Missense_Mutation_p.T688P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T738P	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													95	1141					0	0	1	0	0	C	186277192	A	C	186277192	3	2	22	1	0	0	0	0	1	0	0	0	12533	275	10	3	2363	3	PRG4	1	186277192	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3845	186277192	62973429	1510	3656											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367485.4_Missense_Mutation_p.D830N|PRG4_ENST00000367484.3_Missense_Mutation_p.D452N|PRG4_ENST00000367486.3_Missense_Mutation_p.D880N	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													168	517					0	0	1	0	0	A	186277618	G	A	186277618	3	1	22	1	0	0	0	0	1	0	0	0	12533	942	33	2	2789	2	PRG4	1	186277618	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	426	186277618	62973003	1511	3657											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186307228T>C	ENST00000367478.3	-	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	1433					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								76	207					0	0	1	0	0	C	186307228	T	C	186307228	2	2	22	1	0	0	0	0	0	0	0	1	16477	1606	56	3		3	TPR	1	186307228	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29610	186307228	62943393	1512	3658											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186319457C>A	ENST00000367478.3	-	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	892					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								31	167					1.16021e-09	1.22295e-09	1	1	0	A	186319457	C	A	186319457	4	1	22	1	0	0	0	0	0	1	0	0	16477	922	32	2	4541	2	TPR	1	186319457	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12229	186319457	62931164	1513	3659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186330803T>C	ENST00000367478.3	-	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	303					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								19	611					0	0	1	0	0	C	186330803	T	C	186330803	2	2	22	1	0	0	0	0	0	0	0	1	16477	1741	61	3		3	TPR	1	186330803	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11346	186330803	62919818	1514	3660											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000287859.6_Intron|C1orf27_ENST00000432021.3_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													109	283					0	0	1	0	0	C	186370258	T	C	186370258	2	2	22	1	0	0	0	0	0	0	0	1	10867	1413	49	3		3	OCLM	1	186370258	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39455	186370258	62880363	1515	3661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	312					0	0	1	0	0	T	186645084	C	T	186645084	2	4	22	1	0	0	0	0	0	0	0	1	12806	581	21	2		2	PTGS2	1	186645084	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	274826	186645084	62605537	1516	3662											
FAM5C	0	broad.mit.edu	37	chr1	190067938	190067938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacttctattcgtctgtccGttttctgcagcagatatttc	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:190067938G>A	ENST00000367462.3	-	8	1742	c.1511C>T	c.(1510-1512)aCg>aTg	p.T504M	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.T402M	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		504						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TCGTCTGTCCGTTTTCTGCAG	0.498													224	622					0	0	1	0	0	A	190067938	G	A	190067938	3	1	22	1	0	0	0	0	1	0	0	0	5629	1145	40	1	793	1	FAM5C	1	190067938	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3422854	190067938	59182683	1517	3663											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	258					0	0	1	0	0	G	192545470	A	G	192545470	3	3	22	1	0	0	0	0	1	0	0	0	13342	101	4	3	199	3	RGS1	1	192545470	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2477532	192545470	56705151	1518	3664											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	488					0	0	1	0	0	T	192778279	C	T	192778279	2	4	22	1	0	0	0	0	0	0	0	1	13352	767	27	1		1	RGS2	1	192778279	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	232809	192778279	56472342	1519	3665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	293					0	0	1	0	0	A	193104572	G	A	193104572	3	1	22	1	0	0	0	0	1	0	0	0	3107	1058	37	1	373	1	CDC73	1	193104572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	326293	193104572	56146049	1520	3666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	135					0	0	1	0	0	A	193111038	G	A	193111038	3	1	22	1	0	0	0	0	1	0	0	0	3107	1203	42	2	597	2	CDC73	1	193111038	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6466	193111038	56139583	1521	3667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	112					0	0	1	0	0	T	193117091	C	T	193117091	3	4	22	1	0	0	0	0	1	0	0	0	3107	681	24	2	854	2	CDC73	1	193117091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6053	193117091	56133530	1522	3668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367431.4_Missense_Mutation_p.H996Q|KCNT2_ENST00000294725.8_Missense_Mutation_p.H1062Q			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													101	325					6.16109e-32	7.26658e-32	1	1	0	T	196227349	G	T	196227349	3	4	22	1	0	0	0	0	1	0	0	0	8136	1020	36	2	233	2	KCNT2	1	196227349	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3110258	196227349	53023272	1523	3669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367431.4_Missense_Mutation_p.G811V|KCNT2_ENST00000294725.8_Missense_Mutation_p.G885V			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													9	240					0.000274275	0.000278163	1	1	0	A	196254830	C	A	196254830	3	1	22	1	0	0	0	0	1	0	0	0	8136	623	22	2	777	2	KCNT2	1	196254830	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27481	196254830	52995791	1524	3670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000496761.1_3'UTR|CFH_ENST00000439155.2_Missense_Mutation_p.P25H|CFH_ENST00000359637.2_Missense_Mutation_p.P25H	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													33	232					5.60225e-13	6.03507e-13	1	1	0	A	196642123	C	A	196642123	3	1	22	1	0	0	0	0	1	0	0	0	3305	681	24	2	80	2	CFH	1	196642123	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	387293	196642123	52608498	1525	3671											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	248					0	0	1	0	0	T	196659307	C	T	196659307	3	4	22	1	0	0	0	0	1	0	0	0	3305	768	27	1	1308	1	CFH	1	196659307	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17184	196659307	52591314	1526	3672											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	671					0	0	1	0	0	T	196684801	A	T	196684801	3	4	22	1	0	0	0	0	1	0	0	0	3305	275	10	5	1658	5	CFH	1	196684801	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25494	196684801	52565820	1527	3673											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Missense_Mutation_p.L229I	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													109	200					5.97022e-63	7.52953e-63	1	1	0	A	196800998	C	A	196800998	3	1	22	1	0	0	0	0	1	0	0	0	3306	797	28	2	884	2	CFHR1	1	196800998	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116197	196800998	52449623	1528	3674											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196920108T>G	ENST00000367415.4	+	3	494	c.380T>G	c.(379-381)aTt>aGt	p.I127S	CFHR2_ENST00000367421.3_Missense_Mutation_p.I127S|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	127	Sushi 2.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						GAGAACAACATTTCATGTGTA	0.388													12	443					0	0	1	0	0	G	196920108	T	G	196920108	3	3	22	1	0	0	0	0	1	0	0	0	3307	1493	52	3	390	3	CFHR2	1	196920108	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	119110	196920108	52330513	1529	3675											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	840					0	0	1	0	0	A	197032070	G	A	197032070	3	1	22	1	0	0	0	0	1	0	0	0	5369	971	34	2	1847	2	F13B	1	197032070	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111962	197032070	52218551	1530	3676											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_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													28	179					3.99451e-17	4.40333e-17	1	1	0	A	197069629	C	A	197069629	3	1	22	1	0	0	0	0	1	0	0	0	1055	797	28	2	1725	2	ASPM	1	197069629	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37559	197069629	52180992	1531	3677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_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													103	559					0	0	1	0	0	A	197071117	G	A	197071117	2	1	22	1	0	0	0	0	0	0	0	1	1055	1020	36	2		2	ASPM	1	197071117	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1488	197071117	52179504	1532	3678											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_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													179	677					3.97866e-83	5.09331e-83	1	1	0	T	197072431	G	T	197072431	3	4	22	1	0	0	0	0	1	0	0	0	1055	1319	46	2	4527	2	ASPM	1	197072431	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1314	197072431	52178190	1533	3679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_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													286	838					4.89683e-108	6.30268e-108	1	1	0	A	197072533	C	A	197072533	3	1	22	1	0	0	0	0	1	0	0	0	1055	710	25	2	4629	2	ASPM	1	197072533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102	197072533	52178088	1534	3680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_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													38	551					0	0	1	0	0	A	197072923	G	A	197072923	2	1	22	1	0	0	0	0	0	0	0	1	1055	962	34	2		2	ASPM	1	197072923	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	390	197072923	52177698	1535	3681											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_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													66	659					3.07281e-33	3.63882e-33	1	1	0	A	197073218	C	A	197073218	3	1	22	1	0	0	0	0	1	0	0	0	1055	912	32	2	5314	2	ASPM	1	197073218	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	295	197073218	52177403	1536	3682											
ASPM	259266	broad.mit.edu	37	chr1	197073231	197073232	+	Frame_Shift_Ins	INS	-	-	T													ttctctcttttgtgcagctaINStttttttggaacggtaacat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197073231_197073232insT	ENST00000367409.4	-	18	5405_5406	c.5149_5150insA	c.(5149-5151)agcfs	p.S1717fs	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1717					mitosis	cytoplasm|nucleus	calmodulin binding	p.I1717fs*1(2)		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						TTGTGCAGCTATTTTTTTGGAA	0.371													144	591	---	---	---	---						T	197073232	-	T	197073231	7	5	22	1	0	1	1	0	0	0	0	0	1055	449	16	0	5327	0	ASPM	1	197073231	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	13	197073231	52177390	1537	3683											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_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													29	181					0	0	1	0	0	T	197074013	C	T	197074013	4	4	22	1	0	0	0	0	0	1	0	0	1055	740	26	2	6109	2	ASPM	1	197074013	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	782	197074013	52176608	1538	3684											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000294732.7_Missense_Mutation_p.L1260I|ASPM_ENST00000367408.1_Missense_Mutation_p.L510I	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													14	183					1.49906e-05	1.53515e-05	1	1	0	T	197091137	G	T	197091137	3	4	22	1	0	0	0	0	1	0	0	0	1055	971	34	2	6707	2	ASPM	1	197091137	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17124	197091137	52159484	1539	3685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000294732.7_Missense_Mutation_p.A964V|ASPM_ENST00000367408.1_Missense_Mutation_p.A214V	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													94	497					0	0	1	0	0	A	197097665	G	A	197097665	3	1	22	1	0	0	0	0	1	0	0	0	1055	1203	42	2	7618	2	ASPM	1	197097665	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6528	197097665	52152956	1540	3686											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000294732.7_Missense_Mutation_p.R854H|ASPM_ENST00000367408.1_Missense_Mutation_p.R104H	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													9	478					0	0	1	0	0	T	197099113	C	T	197099113	3	4	22	1	0	0	0	0	1	0	0	0	1055	768	27	1	7956	1	ASPM	1	197099113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1448	197099113	52151508	1541	3687											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													161	844					0	0	1	0	0	T	197111833	C	T	197111833	3	4	22	1	0	0	0	0	1	0	0	0	1055	797	28	2	8988	2	ASPM	1	197111833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12720	197111833	52138788	1542	3688											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	595					0	0	1	0	0	C	197112583	A	C	197112583	3	2	22	1	0	0	0	0	1	0	0	0	1055	246	9	3	9738	3	ASPM	1	197112583	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	750	197112583	52138038	1543	3689											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	440					0	0	1	0	0	T	197168633	C	T	197168633	3	4	22	1	0	0	0	0	1	0	0	0	17602	565	20	2	1798	2	ZBTB41	1	197168633	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56050	197168633	52081988	1544	3690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	423					0	0	1	0	0	G	197169467	T	G	197169467	3	3	22	1	0	0	0	0	1	0	0	0	17602	1783	62	3	2632	3	ZBTB41	1	197169467	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	834	197169467	52081154	1545	3691											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535699.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.N30T|CRB1_ENST00000367399.2_Missense_Mutation_p.N30T	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													54	196					0	0	1	0	0	C	197297570	A	C	197297570	3	2	22	1	0	0	0	0	1	0	0	0	3871	43	2	3	95	3	CRB1	1	197297570	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	128103	197297570	51953051	1546	3692											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535699.1_Missense_Mutation_p.P63S|CRB1_ENST00000538660.1_Missense_Mutation_p.P132S|CRB1_ENST00000367399.2_Missense_Mutation_p.P132S	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													27	129					0	0	1	0	0	T	197297875	C	T	197297875	3	4	22	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	1547	3693											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535699.1_Silent_p.C143C|CRB1_ENST00000538660.1_Silent_p.C212C|CRB1_ENST00000367399.2_Silent_p.C212C	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													53	144					0	0	1	0	0	C	197298117	T	C	197298117	2	2	22	1	0	0	0	0	0	0	0	1	3871	1673	58	3		3	CRB1	1	197298117	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	242	197298117	51952504	1548	3694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535699.1_Silent_p.D252D|CRB1_ENST00000543483.1_Silent_p.D20D|CRB1_ENST00000538660.1_Silent_p.D321D|CRB1_ENST00000367399.2_Intron	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													62	346					0	0	1	0	0	T	197316584	C	T	197316584	2	4	22	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	1549	3695											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535699.1_Missense_Mutation_p.A524T|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000538660.1_Missense_Mutation_p.A593T|CRB1_ENST00000367399.2_Missense_Mutation_p.A481T|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													60	682					0	0	1	0	0	A	197390735	G	A	197390735	3	1	22	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	1550	3696											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535699.1_Missense_Mutation_p.F673L|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367400.3_Missense_Mutation_p.F742L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.F630L|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													63	203					0	0	1	0	0	C	197396679	T	C	197396679	3	2	22	1	0	0	0	0	1	0	0	0	3871	1725	60	3	2250	3	CRB1	1	197396679	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5944	197396679	51853942	1551	3697											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197397131G>T	ENST00000367397.1	+	3	1677	c.819_splice	c.e3+1	p.K273_splice	CRB1_ENST00000535699.1_Splice_Site_p.K823_splice|CRB1_ENST00000367400.3_Splice_Site_p.K892_splice|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Splice_Site_p.K780_splice|CRB1_ENST00000544212.1_Splice_Site_p.K373_splice			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													6	308					1	1	1	1	0	T	197397131	G	T	197397131	5	4	22	1	0	0	0	0	0	0	1	0	3871	1014	35	2	2702	2	CRB1	1	197397131	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	452	197397131	51853490	1552	3698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535699.1_Missense_Mutation_p.F1224C|CRB1_ENST00000367400.3_Missense_Mutation_p.F1248C|CRB1_ENST00000538660.1_Missense_Mutation_p.F712C|CRB1_ENST00000367399.2_Missense_Mutation_p.F1136C|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													11	80					0	0	1	0	0	G	197404736	T	G	197404736	3	3	22	1	0	0	0	0	1	0	0	0	3871	1841	64	3	3777	3	CRB1	1	197404736	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7605	197404736	51845885	1553	3699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													152	427					0	0	1	0	0	C	197875015	T	C	197875015	2	2	22	1	0	0	0	0	0	0	0	1	2059	1567	55	3		3	C1orf53	1	197875015	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	470279	197875015	51375606	1554	3700											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:198201767G>T	ENST00000367385.4	+	2	399	c.57_splice	c.e2+1	p.Q19_splice	NEK7_ENST00000367383.1_Splice_Site_p.Q19_splice|NEK7_ENST00000538004.1_Splice_Site_p.Q19_splice|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													70	182					5.29578e-48	6.52885e-48	1	1	0	T	198201767	G	T	198201767	5	4	22	1	0	0	0	0	0	0	1	0	10376	1014	35	2	59	2	NEK7	1	198201767	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	326752	198201767	51048854	1555	3701											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348564.6_Missense_Mutation_p.D388N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D549N|PTPRC_ENST00000352140.3_Missense_Mutation_p.D499N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D386N	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													25	95					0	0	1	0	0	A	198687417	G	A	198687417	3	1	22	1	0	0	0	0	1	0	0	0	12849	942	33	2	1700	2	PTPRC	1	198687417	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	485650	198687417	50563204	1556	3702											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348564.6_Missense_Mutation_p.K855T|PTPRC_ENST00000442510.2_Missense_Mutation_p.K1016T|PTPRC_ENST00000352140.3_Missense_Mutation_p.K966T|PTPRC_ENST00000594404.1_Missense_Mutation_p.K853T	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													51	203					0	0	1	0	0	C	198718653	A	C	198718653	3	2	22	1	0	0	0	0	1	0	0	0	12849	14	1	3	3158	3	PTPRC	1	198718653	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31236	198718653	50531968	1557	3703											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200376162C>A	ENST00000294740.2	-	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_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	891					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													19	585					2.21704e-12	2.37967e-12	1	1	0	A	200376162	C	A	200376162	3	1	22	1	0	0	0	0	1	0	0	0	17876	797	28	2	19	2	ZNF281	1	200376162	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1657509	200376162	48874459	1558	3704											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200377323C>T	ENST00000294740.2	-	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_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	504					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													90	392					0	0	1	0	0	T	200377323	C	T	200377323	3	4	22	1	0	0	0	0	1	0	0	0	17876	739	26	2	1180	2	ZNF281	1	200377323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1161	200377323	48873298	1559	3705											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	135					0	0	1	0	0	T	200524583	C	T	200524583	5	4	22	1	0	0	0	0	0	0	1	0	8318	695	24	2	605	2	KIF14	1	200524583	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147260	200524583	48726038	1560	3706											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200544719C>A	ENST00000367350.4	-	22	4004	c.3566_splice	c.e22+1	p.R1189_splice		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													51	237					1.21353e-23	1.38083e-23	1	1	0	A	200544719	C	A	200544719	5	1	22	1	0	0	0	0	0	0	1	0	8318	695	24	2	1416	2	KIF14	1	200544719	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20136	200544719	48705902	1561	3707											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	487					7.28744e-38	8.7633e-38	1	1	0	A	200628173	C	A	200628173	3	1	22	1	0	0	0	0	1	0	0	0	4399	912	32	2	835	2	DDX59	1	200628173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83454	200628173	48622448	1562	3708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	253					0	0	1	0	0	T	200635067	C	T	200635067	3	4	22	1	0	0	0	0	1	0	0	0	4399	893	31	1	1085	1	DDX59	1	200635067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6894	200635067	48615554	1563	3709											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	501					4.58063e-37	5.49597e-37	1	1	0	T	200635738	G	T	200635738	3	4	22	1	0	0	0	0	1	0	0	0	4399	971	34	2	1756	2	DDX59	1	200635738	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	671	200635738	48614883	1564	3710											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	131					0	0	1	0	0	T	200842741	C	T	200842741	2	4	22	1	0	0	0	0	0	0	0	1	6723	755	27	1		1	GPR25	1	200842741	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207003	200842741	48407880	1565	3711											
GPR25	2848	broad.mit.edu	37	chr1	200842776	200842778	+	In_Frame_Del	DEL	TGC	TGC	-													cgccttccagggcctcagctTgctgctgctgctgctgacct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200842776_200842778delTGC	ENST00000304244.2	+	1	694_696	c.611_613delTGC	c.(610-615)ttg>t	p.LL208del		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	208	Poly-Leu.					integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGCCTCAGCTTGCTGCTGCTGCT	0.724													10	221	---	---	---	---						-	200842778	TGC	-	200842776	7	5	22	1	0	1	0	1	0	0	0	0	6723	1821	63	0	613	0	GPR25	1	200842776	In_Frame_Del	DEL	TGC	TCGA-IB-7651-01A-11D-2154-08	35	200842776	48407845	1566	3712											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360529.5_Missense_Mutation_p.R947M|KIF21B_ENST00000422435.2_Missense_Mutation_p.R947M|KIF21B_ENST00000461742.2_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													26	83					9.57634e-11	1.01752e-10	1	1	0	A	200959456	C	A	200959456	3	1	22	1	0	0	0	0	1	0	0	0	8331	681	24	2	2094	2	KIF21B	1	200959456	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116680	200959456	48291165	1567	3713											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360529.5_Silent_p.P563P|KIF21B_ENST00000422435.2_Silent_p.P563P|KIF21B_ENST00000461742.2_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													112	327					0	0	1	0	0	A	200969089	G	A	200969089	2	1	22	1	0	0	0	0	0	0	0	1	8331	1103	39	1		1	KIF21B	1	200969089	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9633	200969089	48281532	1568	3714											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360529.5_Missense_Mutation_p.D243G|KIF21B_ENST00000422435.2_Missense_Mutation_p.D243G|KIF21B_ENST00000461742.2_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													68	348					0	0	1	0	0	C	200974440	T	C	200974440	3	2	22	1	0	0	0	0	1	0	0	0	8331	1667	58	3	4266	3	KIF21B	1	200974440	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5351	200974440	48276181	1569	3715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360529.5_Missense_Mutation_p.W59C|KIF21B_ENST00000422435.2_Missense_Mutation_p.W59C|KIF21B_ENST00000461742.2_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													77	224					1.03218e-28	1.20291e-28	1	1	0	A	200978481	C	A	200978481	3	1	22	1	0	0	0	0	1	0	0	0	8331	740	26	2	4829	2	KIF21B	1	200978481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4041	200978481	48272140	1570	3716											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	140					0	0	1	0	0	A	201010662	G	A	201010662	4	1	22	1	0	0	0	0	0	1	0	0	2565	1153	40	1	533	1	CACNA1S	1	201010662	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32181	201010662	48239959	1571	3717											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	129					0	0	1	0	0	T	201031168	C	T	201031168	3	4	22	1	0	0	0	0	1	0	0	0	2565	536	19	1	2748	1	CACNA1S	1	201031168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20506	201031168	48219453	1572	3718											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201035357C>A	ENST00000362061.3	-	21	2971	c.2745_splice	c.e21+1	p.K915_splice	CACNA1S_ENST00000367338.3_Splice_Site_p.K915_splice	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													77	395					1.71382e-40	2.07847e-40	1	1	0	A	201035357	C	A	201035357	5	1	22	1	0	0	0	0	0	0	1	0	2565	695	24	2	2972	2	CACNA1S	1	201035357	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4189	201035357	48215264	1573	3719											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	442					3.07327e-39	3.71448e-39	1	1	0	T	201035407	G	T	201035407	3	4	22	1	0	0	0	0	1	0	0	0	2565	962	34	2	3022	2	CACNA1S	1	201035407	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50	201035407	48215214	1574	3720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	524					0	0	1	0	0	T	201052427	C	T	201052427	3	4	22	1	0	0	0	0	1	0	0	0	2565	768	27	1	4505	1	CACNA1S	1	201052427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17020	201052427	48198194	1575	3721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	149					0	0	1	0	0	A	201252867	G	A	201252867	3	1	22	1	0	0	0	0	1	0	0	0	12032	1059	37	1	39	1	PKP1	1	201252867	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200440	201252867	47997754	1576	3722											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475988.1_3'UTR|PKP1_ENST00000367324.3_Missense_Mutation_p.L338M|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													8	251					2.52707e-12	2.7121e-12	1	1	0	A	201286865	C	A	201286865	3	1	22	1	0	0	0	0	1	0	0	0	12032	680	24	2	1030	2	PKP1	1	201286865	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33998	201286865	47963756	1577	3723											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	202					0	0	1	0	0	A	201289433	G	A	201289433	3	1	22	1	0	0	0	0	1	0	0	0	12032	1145	40	1	1364	1	PKP1	1	201289433	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2568	201289433	47961188	1578	3724											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367317.4_Missense_Mutation_p.R139H|TNNT2_ENST00000367318.5_Missense_Mutation_p.R139H|TNNT2_ENST00000367320.2_Missense_Mutation_p.R109H|TNNT2_ENST00000458432.2_Missense_Mutation_p.R151H|TNNT2_ENST00000367322.1_Missense_Mutation_p.R139H|TNNT2_ENST00000236918.7_Missense_Mutation_p.R144H|TNNT2_ENST00000421663.2_Missense_Mutation_p.R141H|TNNT2_ENST00000360372.4_Missense_Mutation_p.R134H|TNNT2_ENST00000367315.2_Missense_Mutation_p.R139H	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													24	133					0	0	1	0	0	T	201333469	C	T	201333469	3	4	22	1	0	0	0	0	1	0	0	0	16391	768	27	1	481	1	TNNT2	1	201333469	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44036	201333469	47917152	1579	3725											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201337290C>A	ENST00000509001.1	-	5	419	c.133_splice	c.e5+1	p.E45_splice	TNNT2_ENST00000367317.4_Splice_Site_p.E45_splice|TNNT2_ENST00000367318.5_Splice_Site_p.E45_splice|TNNT2_ENST00000367320.2_Splice_Site_p.D55_splice|TNNT2_ENST00000458432.2_Splice_Site_p.E57_splice|TNNT2_ENST00000367322.1_Splice_Site_p.E45_splice|TNNT2_ENST00000236918.7_Splice_Site_p.E50_splice|TNNT2_ENST00000421663.2_Splice_Site_p.E47_splice|TNNT2_ENST00000360372.4_Splice_Site_p.E40_splice|TNNT2_ENST00000367315.2_Splice_Site_p.E45_splice	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													79	374					1.26373e-49	1.56379e-49	1	1	0	A	201337290	C	A	201337290	5	1	22	1	0	0	0	0	0	0	1	0	16391	695	24	2	784	2	TNNT2	1	201337290	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3821	201337290	47913331	1580	3726											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367312.1_Nonsense_Mutation_p.R80*|TNNI1_ENST00000555948.1_Nonsense_Mutation_p.R80*|TNNI1_ENST00000336092.4_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													352	1851					0	0	1	0	0	A	201382201	G	A	201382201	4	1	22	1	0	0	0	0	0	1	0	0	16386	1095	38	1	337	1	TNNI1	1	201382201	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44911	201382201	47868420	1581	3727											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367300.3_Silent_p.S421S|NAV1_ENST00000367295.1_Silent_p.S30S|NAV1_ENST00000367297.4_Silent_p.S421S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Silent_p.S434S|NAV1_ENST00000295624.6_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													63	373					0	0	1	0	0	T	201749585	C	T	201749585	2	4	22	1	0	0	0	0	0	0	0	1	10231	767	27	1		1	NAV1	1	201749585	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	367384	201749585	47501036	1582	3728											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367300.3_Nonsense_Mutation_p.E762*|NAV1_ENST00000367295.1_Nonsense_Mutation_p.E371*|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367297.4_Nonsense_Mutation_p.E762*|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Nonsense_Mutation_p.E775*|NAV1_ENST00000295624.6_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													74	261					7.62596e-35	9.08233e-35	1	1	0	T	201751924	G	T	201751924	4	4	22	1	0	0	0	0	0	1	0	0	10231	943	33	2	2363	2	NAV1	1	201751924	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2339	201751924	47498697	1583	3729											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367300.3_Missense_Mutation_p.R929I|NAV1_ENST00000367295.1_Missense_Mutation_p.R538I|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367297.4_Missense_Mutation_p.R929I|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.R942I|NAV1_ENST00000295624.6_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													83	305					6.31949e-53	7.86834e-53	1	1	0	T	201752962	G	T	201752962	3	4	22	1	0	0	0	0	1	0	0	0	10231	942	33	2	2869	2	NAV1	1	201752962	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1038	201752962	47497659	1584	3730											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367300.3_Intron|NAV1_ENST00000367295.1_Silent_p.A646A|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367297.4_Silent_p.A1037A|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Intron|NAV1_ENST00000295624.6_Silent_p.A1037A	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													125	590					0	0	1	0	0	T	201757711	C	T	201757711	2	4	22	1	0	0	0	0	0	0	0	1	10231	639	23	1		1	NAV1	1	201757711	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4749	201757711	47492910	1585	3731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367300.3_Silent_p.P1768P|NAV1_ENST00000367295.1_Silent_p.P1434P|IPO9-AS1_ENST00000421449.1_RNA|NAV1_ENST00000367297.4_Silent_p.P1820P|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Silent_p.P1781P|NAV1_ENST00000295624.6_Silent_p.P1825P	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													52	181					0	0	1	0	0	T	201786359	C	T	201786359	2	4	22	1	0	0	0	0	0	0	0	1	10231	639	23	1		1	NAV1	1	201786359	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28648	201786359	47464262	1586	3732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	171					2.2129e-31	2.60483e-31	1	1	0	A	201869208	C	A	201869208	3	1	22	1	0	0	0	0	1	0	0	0	8897	680	24	2	877	2	LMOD1	1	201869208	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82849	201869208	47381413	1587	3733											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.E476K	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													61	170					0	0	1	0	0	A	201972481	G	A	201972481	3	1	22	1	0	0	0	0	1	0	0	0	13561	1059	37	1	1577	1	RNPEP	1	201972481	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103273	201972481	47278140	1588	3734											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.D223G|ELF3_ENST00000367284.5_Missense_Mutation_p.D223G			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													60	196					0	0	1	0	0	G	201982144	A	G	201982144	3	3	22	1	0	0	0	0	1	0	0	0	5083	333	12	3	686	3	ELF3	1	201982144	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9663	201982144	47268477	1589	3735											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202128652G>T	ENST00000367279.4	-	0	467				PTPN7_ENST00000308986.5_Intron|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000309017.3_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													85	228					2.26394e-26	2.60799e-26	1	1	0	T	202128652	G	T	202128652	1	4	22	1	0	0	0	0	0	0	0	0	12845	1015	35	2		2	PTPN7	1	202128652	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146508	202128652	47121969	1590	3736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	678					0.000673444	0.000681208	1	1	0	T	202279366	G	T	202279366	3	4	22	1	0	0	0	0	1	0	0	0	8798	1232	43	2	1657	2	LGR6	1	202279366	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	150714	202279366	46971255	1591	3737											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													225	667					0	0	1	0	0	C	202698939	T	C	202698939	3	2	22	1	0	0	0	0	1	0	0	0	8177	1725	60	3	249	3	KDM5B	1	202698939	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	419573	202698939	46551682	1592	3738											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	220					0	0	1	0	0	A	202700144	G	A	202700144	4	1	22	1	0	0	0	0	0	1	0	0	8177	1357	47	2	577	2	KDM5B	1	202700144	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1205	202700144	46550477	1593	3739											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	297					0	0	1	0	0	A	202705505	G	A	202705505	3	1	22	1	0	0	0	0	1	0	0	0	8177	1203	42	2	1562	2	KDM5B	1	202705505	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5361	202705505	46545116	1594	3740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	1045					5.35356e-11	5.69577e-11	1	1	0	T	202731903	G	T	202731903	3	4	22	1	0	0	0	0	1	0	0	0	8177	1000	35	2	3876	2	KDM5B	1	202731903	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26398	202731903	46518718	1595	3741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	383					0	0	1	0	0	T	202742404	C	T	202742404	3	4	22	1	0	0	0	0	1	0	0	0	8177	922	32	2	4312	2	KDM5B	1	202742404	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10501	202742404	46508217	1596	3742											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367259.1_5'UTR|KLHL12_ENST00000435533.3_Missense_Mutation_p.R281H	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													17	475					0	0	1	0	0	T	202878242	C	T	202878242	3	4	22	1	0	0	0	0	1	0	0	0	8411	768	27	1	1006	1	KLHL12	1	202878242	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135838	202878242	46372379	1597	3743											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367254.3_Splice_Site|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.Q233H	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													40	166					5.71845e-15	6.23116e-15	1	1	0	A	202912992	C	A	202912992	3	1	22	1	0	0	0	0	1	0	0	0	317	796	28	2	440	2	ADIPOR1	1	202912992	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34750	202912992	46337629	1598	3744											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367254.3_Missense_Mutation_p.P116S|ADIPOR1_ENST00000436244.1_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													124	356					0	0	1	0	0	A	202915651	G	A	202915651	3	1	22	1	0	0	0	0	1	0	0	0	317	1261	44	2	801	2	ADIPOR1	1	202915651	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2659	202915651	46334970	1599	3745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	79					0	0	1	0	0	A	202932821	G	A	202932821	2	1	22	1	0	0	0	0	0	0	0	1	4149	1164	41	2		2	CYB5R1	1	202932821	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17170	202932821	46317800	1600	3746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	606					1.67886e-27	1.94484e-27	1	1	0	T	202934626	G	T	202934626	2	4	22	1	0	0	0	0	0	0	0	1	4149	929	33	2		2	CYB5R1	1	202934626	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1805	202934626	46315995	1601	3747											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447715.2_Silent_p.G957G|PPFIA4_ENST00000599966.1_Silent_p.G464G|PPFIA4_ENST00000414050.2_Silent_p.G686G|PPFIA4_ENST00000272198.6_Silent_p.G473G|PPFIA4_ENST00000295706.4_Silent_p.G464G			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													64	353					0	0	1	0	0	A	203033018	G	A	203033018	2	1	22	1	0	0	0	0	0	0	0	1	12357	1190	42	2		2	PPFIA4	1	203033018	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98392	203033018	46217603	1602	3748											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002479.4	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													221	602					0	0	1	0	0	A	203054860	G	A	203054860	3	1	22	1	0	0	0	0	1	0	0	0	10138	1059	37	1	456	1	MYOG	1	203054860	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21842	203054860	46195761	1603	3749											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000255427.3_Silent_p.P386P|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000535569.1_Silent_p.P396P	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)	12	409					0.000978159	0.000988919	1	1	0	T	203186203	G	T	203186203	2	4	22	1	0	0	0	0	0	0	0	1	3368	987	35	2		2	CHIT1	1	203186203	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131343	203186203	46064418	1604	3750											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203192262C>A	ENST00000367229.1	-	6	640		c.e6+1		CHIT1_ENST00000255427.3_Splice_Site|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000535569.1_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													163	738					7.28047e-80	9.30738e-80	1	1	0	A	203192262	C	A	203192262	5	1	22	1	0	0	0	0	0	0	1	0	3368	579	20	2	818	2	CHIT1	1	203192262	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6059	203192262	46058359	1605	3751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000255427.3_Missense_Mutation_p.T153P|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000535569.1_Missense_Mutation_p.T163P	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													161	524					0	0	1	0	0	G	203192354	T	G	203192354	3	3	22	1	0	0	0	0	1	0	0	0	3368	1667	58	3	910	3	CHIT1	1	203192354	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	92	203192354	46058267	1606	3752											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000255427.3_Missense_Mutation_p.R109H|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.R119H	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													149	582					0	0	1	0	0	T	203192720	C	T	203192720	3	4	22	1	0	0	0	0	1	0	0	0	3368	768	27	1	1045	1	CHIT1	1	203192720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	366	203192720	46057901	1607	3753											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	25					0.000274275	0.000278163	1	1	0	A	203274801	C	A	203274801	3	1	22	1	0	0	0	0	1	0	0	0	1557	681	24	2	69	2	BTG2	1	203274801	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82081	203274801	45975820	1608	3754											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													134	674					1.35261e-66	1.71214e-66	1	1	0	A	203452334	C	A	203452334	3	1	22	1	0	0	0	0	1	0	0	0	12525	797	28	2	24	2	PRELP	1	203452334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177533	203452334	45798287	1609	3755											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000391954.2_Missense_Mutation_p.Y550H|ATP2B4_ENST00000367219.3_Missense_Mutation_p.Y538H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.Y550H|ATP2B4_ENST00000341360.2_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													11	440					0	0	1	0	0	C	203678519	T	C	203678519	3	2	22	1	0	0	0	0	1	0	0	0	1141	1754	61	3	1686	3	ATP2B4	1	203678519	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	226185	203678519	45572102	1610	3756											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	192					0	0	1	0	0	G	203743398	T	G	203743398	2	3	22	1	0	0	0	0	0	0	0	1	8687	1538	54	3		3	LAX1	1	203743398	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64879	203743398	45507223	1611	3757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367214.1_Missense_Mutation_p.L523I|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L523I|ZC3H11A_ENST00000367212.3_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													8	426					0.00621372	0.0062537	1	1	0	A	203817479	C	A	203817479	3	1	22	1	0	0	0	0	1	0	0	0	17619	681	24	2	1613	2	ZC3H11A	1	203817479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74081	203817479	45433142	1612	3758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203839004G>A	ENST00000414487.2	+	5	268		c.e5-1		SNRPE_ENST00000367208.1_Splice_Site|SNRPE_ENST00000483099.1_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													23	131					0	0	1	0	0	A	203839004	G	A	203839004	5	1	22	1	0	0	0	0	0	0	1	0	14921	1014	35	2	241	2	SNRPE	1	203839004	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21525	203839004	45411617	1613	3759											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	128					0	0	1	0	0	T	204091060	C	T	204091060	3	4	22	1	0	0	0	0	1	0	0	0	14998	623	22	2	834	2	SOX13	1	204091060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	252056	204091060	45159561	1614	3760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367202.4_Missense_Mutation_p.A289V|ETNK2_ENST00000367201.3_Missense_Mutation_p.A289V|ETNK2_ENST00000367198.2_Missense_Mutation_p.A111V|ETNK2_ENST00000477125.1_5'UTR|ETNK2_ENST00000367197.1_5'UTR			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													101	304					0	0	1	0	0	A	204109165	G	A	204109165	3	1	22	1	0	0	0	0	1	0	0	0	5302	1319	46	2	310	2	ETNK2	1	204109165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18105	204109165	45141456	1615	3761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	310					0	0	1	0	0	T	204128549	C	T	204128549	3	4	22	1	0	0	0	0	1	0	0	0	13276	536	19	1	577	1	REN	1	204128549	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19384	204128549	45122072	1616	3762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	300					0	0	1	0	0	T	204128681	C	T	204128681	3	4	22	1	0	0	0	0	1	0	0	0	13276	864	30	2	709	2	REN	1	204128681	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132	204128681	45121940	1617	3763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	118					0	0	1	0	0	A	204130425	G	A	204130425	3	1	22	1	0	0	0	0	1	0	0	0	13276	1203	42	2	884	2	REN	1	204130425	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1744	204130425	45120196	1618	3764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	79					0	0	1	0	0	T	204159862	C	T	204159862	3	4	22	1	0	0	0	0	1	0	0	0	8370	681	24	2	253	2	KISS1	1	204159862	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29437	204159862	45090759	1619	3765											
GOLT1A	127845	broad.mit.edu	37	chr1	204170873	204170873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcccttgagtttgtgccGttggaagaagaaccaaaagg	13	7	0	3	rs149024146	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204170873G>A	ENST00000308302.3	-	3	369	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	62					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			AGTTTGTGCCGTTGGAAGAAG	0.572													112	570					0	0	1	0	0	A	204170873	G	A	204170873	3	1	22	1	0	0	0	0	1	0	0	0	6609	1144	40	1	226	1	GOLT1A	1	204170873	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11011	204170873	45079748	1620	3766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	187					0	0	1	0	0	G	204378920	T	G	204378920	3	3	22	1	0	0	0	0	1	0	0	0	12413	1606	56	3	529	3	PPP1R15B	1	204378920	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	208047	204378920	44871701	1621	3767											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1558Q|RP11-739N20.2_ENST00000443515.1_RNA	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													33	124					0	0	1	0	0	T	204394128	C	T	204394128	3	4	22	1	0	0	0	0	1	0	0	0	11958	652	23	1	151	1	PIK3C2B	1	204394128	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15208	204394128	44856493	1622	3768											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L1239R|RP11-739N20.2_ENST00000443515.1_RNA	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													166	885					0	0	1	0	0	C	204402964	A	C	204402964	3	2	22	1	0	0	0	0	1	0	0	0	11958	304	11	3	1140	3	PIK3C2B	1	204402964	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8836	204402964	44847657	1623	3769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1225H|RP11-739N20.2_ENST00000443515.1_RNA	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													214	511					0	0	1	0	0	T	204403006	C	T	204403006	3	4	22	1	0	0	0	0	1	0	0	0	11958	768	27	1	1182	1	PIK3C2B	1	204403006	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42	204403006	44847615	1624	3770											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	424					0	0	1	0	0	A	204409347	G	A	204409347	3	1	22	1	0	0	0	0	1	0	0	0	11958	1116	39	1	1600	1	PIK3C2B	1	204409347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6341	204409347	44841274	1625	3771											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	317					0	0	1	0	0	T	204409450	C	T	204409450	5	4	22	1	0	0	0	0	0	0	1	0	11958	579	20	2	1703	2	PIK3C2B	1	204409450	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103	204409450	44841171	1626	3772											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	334					0	0	1	0	0	A	204416604	G	A	204416604	3	1	22	1	0	0	0	0	1	0	0	0	11958	1087	38	1	2531	1	PIK3C2B	1	204416604	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7154	204416604	44834017	1627	3773											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	207					0	0	1	0	0	T	204426936	C	T	204426936	3	4	22	1	0	0	0	0	1	0	0	0	11958	768	27	1	3371	1	PIK3C2B	1	204426936	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10332	204426936	44823685	1628	3774											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	263					0	0	1	0	0	A	204429749	G	A	204429749	3	1	22	1	0	0	0	0	1	0	0	0	11958	1116	39	1	3665	1	PIK3C2B	1	204429749	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2813	204429749	44820872	1629	3775											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	238					5.02462e-34	5.96784e-34	1	1	0	T	204587617	G	T	204587617	3	4	22	1	0	0	0	0	1	0	0	0	9080	991	35	2	641	2	LRRN2	1	204587617	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157868	204587617	44663004	1630	3776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	273					0	0	1	0	0	A	204587774	G	A	204587774	2	1	22	1	0	0	0	0	0	0	0	1	9080	1103	39	1		1	LRRN2	1	204587774	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157	204587774	44662847	1631	3777											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	354					0	0	1	0	0	A	204588892	G	A	204588892	4	1	22	1	0	0	0	0	0	1	0	0	9080	1328	46	2	1916	2	LRRN2	1	204588892	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1118	204588892	44661729	1632	3778											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204938111G>A	ENST00000367172.4	+	10	1331		c.e10+1		NFASC_ENST00000360049.4_Splice_Site|NFASC_ENST00000403080.1_Splice_Site|NFASC_ENST00000338515.6_Splice_Site|NFASC_ENST00000404907.1_Splice_Site|NFASC_ENST00000401399.1_Splice_Site|NFASC_ENST00000338586.6_Splice_Site|NFASC_ENST00000367169.4_Splice_Site|NFASC_ENST00000339876.6_Splice_Site|NFASC_ENST00000404076.1_Splice_Site|NFASC_ENST00000539706.1_Splice_Site|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000513543.1_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													10	145					0	0	1	0	0	A	204938111	G	A	204938111	5	1	22	1	0	0	0	0	0	0	1	0	10406	1275	44	2	1089	2	NFASC	1	204938111	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	349219	204938111	44312510	1633	3779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360049.4_Missense_Mutation_p.P646L|NFASC_ENST00000338515.6_Missense_Mutation_p.P650L|NFASC_ENST00000404907.1_Missense_Mutation_p.P646L|NFASC_ENST00000401399.1_Missense_Mutation_p.P650L|NFASC_ENST00000338586.6_Missense_Mutation_p.P650L|NFASC_ENST00000367169.4_Missense_Mutation_p.P650L|NFASC_ENST00000339876.6_Missense_Mutation_p.P650L|NFASC_ENST00000404076.1_Missense_Mutation_p.P629L|NFASC_ENST00000539706.1_Missense_Mutation_p.P646L|NFASC_ENST00000367171.4_Missense_Mutation_p.P635L|NFASC_ENST00000367170.4_Missense_Mutation_p.P650L|NFASC_ENST00000513543.1_Missense_Mutation_p.P646L			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													4	14					0	0	1	0	0	T	204948168	C	T	204948168	3	4	22	1	0	0	0	0	1	0	0	0	10406	623	22	2	2095	2	NFASC	1	204948168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10057	204948168	44302453	1634	3780											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360049.4_Silent_p.P678P|NFASC_ENST00000338515.6_Silent_p.P682P|NFASC_ENST00000404907.1_Silent_p.P678P|NFASC_ENST00000401399.1_Silent_p.P682P|NFASC_ENST00000338586.6_Silent_p.P682P|NFASC_ENST00000367169.4_Silent_p.P682P|NFASC_ENST00000339876.6_Silent_p.P682P|NFASC_ENST00000404076.1_Silent_p.P661P|NFASC_ENST00000539706.1_Silent_p.P678P|NFASC_ENST00000367171.4_Silent_p.P667P|NFASC_ENST00000367170.4_Silent_p.P682P|NFASC_ENST00000513543.1_Silent_p.P678P			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													140	600					0	0	1	0	0	T	204948557	C	T	204948557	2	4	22	1	0	0	0	0	0	0	0	1	10406	639	23	1		1	NFASC	1	204948557	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	389	204948557	44302064	1635	3781											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360049.4_Silent_p.G1127G|NFASC_ENST00000338515.6_Silent_p.G1215G|NFASC_ENST00000404907.1_Silent_p.G1132G|NFASC_ENST00000401399.1_Silent_p.G1198G|NFASC_ENST00000338586.6_Silent_p.G1182G|NFASC_ENST00000367169.4_Silent_p.G1029G|NFASC_ENST00000339876.6_Silent_p.G1198G|NFASC_ENST00000404076.1_Silent_p.G1115G|NFASC_ENST00000539706.1_Silent_p.G1132G|NFASC_ENST00000367171.4_Silent_p.G1290G|NFASC_ENST00000367170.4_Silent_p.G1226G|NFASC_ENST00000513543.1_Silent_p.G1127G|NFASC_ENST00000495396.1_3'UTR			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													68	672					0	0	1	0	0	T	204985538	C	T	204985538	2	4	22	1	0	0	0	0	0	0	0	1	10406	755	27	1		1	NFASC	1	204985538	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36981	204985538	44265083	1636	3782											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	144					3.09479e-21	3.48195e-21	1	1	0	A	205027766	C	A	205027766	2	1	22	1	0	0	0	0	0	0	0	1	3664	668	24	2		2	CNTN2	1	205027766	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42228	205027766	44222855	1637	3783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													203	526					0	0	1	0	0	A	205034326	G	A	205034326	4	1	22	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	1638	3784											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													187	545					0	0	1	0	0	T	205039089	C	T	205039089	2	4	22	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	1639	3785											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367161.3_Silent_p.T176T|DSTYK_ENST00000367160.4_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													66	201					0	0	1	0	0	T	205156672	C	T	205156672	2	4	22	1	0	0	0	0	0	0	0	1	4811	755	27	1		1	DSTYK	1	205156672	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117583	205156672	44093949	1640	3786											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545499.1_Silent_p.G95G|TMCC2_ENST00000495538.1_3'UTR	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													28	88					0	0	1	0	0	T	205210944	C	T	205210944	2	4	22	1	0	0	0	0	0	0	0	1	16053	755	27	1		1	TMCC2	1	205210944	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54272	205210944	44039677	1641	3787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545499.1_Silent_p.A270A|TMCC2_ENST00000330675.7_Silent_p.A123A|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000329800.7_Silent_p.A108A	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													73	212					0	0	1	0	0	T	205238374	C	T	205238374	2	4	22	1	0	0	0	0	0	0	0	1	16053	610	22	2		2	TMCC2	1	205238374	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27430	205238374	44012247	1642	3788											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	330					0	0	1	0	0	A	205272760	G	A	205272760	3	1	22	1	0	0	0	0	1	0	0	0	10761	1086	38	1	185	1	NUAK2	1	205272760	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34386	205272760	43977861	1643	3789											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	364					0	0	1	0	0	T	205275355	C	T	205275355	2	4	22	1	0	0	0	0	0	0	0	1	10761	755	27	1		1	NUAK2	1	205275355	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2595	205275355	43975266	1644	3790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000460687.1_Missense_Mutation_p.A196T|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.A330T|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													31	770					0	0	1	0	0	T	205306592	C	T	205306592	3	4	22	1	0	0	0	0	1	0	0	0	8405	768	27	1	68	1	KLHDC8A	1	205306592	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31237	205306592	43944029	1645	3791											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000460687.1_Intron|KLHDC8A_ENST00000539253.1_Silent_p.E28E|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													58	156					0	0	1	0	0	T	205312649	C	T	205312649	2	4	22	1	0	0	0	0	0	0	0	1	8405	912	32	2		2	KLHDC8A	1	205312649	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6057	205312649	43937972	1646	3792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367152.1_Missense_Mutation_p.I103T|LEMD1_ENST00000367151.2_Missense_Mutation_p.I103T|LEMD1_ENST00000367154.1_Missense_Mutation_p.S97P|LEMD1_ENST00000391936.2_Missense_Mutation_p.S97P|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000367149.3_Missense_Mutation_p.S56P|LEMD1_ENST00000476884.1_5'UTR	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													86	956					0	0	1	0	0	G	205350901	A	G	205350901	3	3	22	1	0	0	0	0	1	0	0	0	8758	333	12	3	41	3	LEMD1	1	205350901	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	38252	205350901	43899720	1647	3793											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429964.2_Missense_Mutation_p.F30L|CDK18_ENST00000506784.1_Missense_Mutation_p.F30L|CDK18_ENST00000509056.1_Intron	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													139	338					1.44621e-61	1.82128e-61	1	1	0	A	205492385	C	A	205492385	3	1	22	1	0	0	0	0	1	0	0	0	3156	825	29	2	92	2	CDK18	1	205492385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141484	205492385	43758236	1648	3794											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	442					0.27861	0.278732	1	1	0	T	205553121	G	T	205553121	3	4	22	1	0	0	0	0	1	0	0	0	9583	991	35	2	743	2	MFSD4	1	205553121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60736	205553121	43697500	1649	3795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	43	173					0	0	1	0	0	T	205628723	C	T	205628723	3	4	22	1	0	0	0	0	1	0	0	0	14697	739	26	2	364	2	SLC45A3	1	205628723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75602	205628723	43621898	1650	3796											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000414729.1_Missense_Mutation_p.N176H|RAB7L1_ENST00000446390.2_Missense_Mutation_p.N152H|RAB7L1_ENST00000468887.1_5'UTR|RAB7L1_ENST00000437324.2_Missense_Mutation_p.N104H	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													34	247					0	0	1	0	0	G	205739556	T	G	205739556	3	3	22	1	0	0	0	0	1	0	0	0	13007	1841	64	3	89	3	RAB7L1	1	205739556	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	110833	205739556	43511065	1651	3797											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													133	414					2.77834e-61	3.49734e-61	1	1	0	T	205779272	G	T	205779272	3	4	22	1	0	0	0	0	1	0	0	0	14684	962	34	2	1283	2	SLC41A1	1	205779272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39716	205779272	43471349	1652	3798											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	121	437					0	0	1	0	0	A	205779550	G	A	205779550	3	1	22	1	0	0	0	0	1	0	0	0	14684	1116	39	1	1561	1	SLC41A1	1	205779550	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278	205779550	43471071	1653	3799											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	421					0	0	1	0	0	T	206225109	C	T	206225109	2	4	22	1	0	0	0	0	0	0	0	1	1230	747	26	2		2	AVPR1B	1	206225109	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	445559	206225109	43025512	1654	3800											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358184.2_Missense_Mutation_p.S106Y|CTSE_ENST00000432969.2_Missense_Mutation_p.S31Y|CTSE_ENST00000360218.2_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													107	251					6.72522e-28	7.80435e-28	1	1	0	A	206319192	C	A	206319192	3	1	22	1	0	0	0	0	1	0	0	0	4057	913	32	2	327	2	CTSE	1	206319192	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94083	206319192	42931429	1655	3801											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358184.2_3'UTR|CTSE_ENST00000432969.2_Silent_p.L284L|CTSE_ENST00000361052.3_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													12	443					0	0	1	0	0	T	206331211	C	T	206331211	2	4	22	1	0	0	0	0	0	0	0	1	4057	680	24	2		2	CTSE	1	206331211	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12019	206331211	42919410	1656	3802											
SRGAP2	23380	broad.mit.edu	37	chr1	206632020	206632020	+	Missense_Mutation	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206632020C>T	ENST00000419187.2	+	19	2176	c.513C>T	c.(511-513)gaC>gaT	p.171_171insD	SRGAP2_ENST00000414007.1_Silent_p.D713D			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	0					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													17	73					0	0	1	0	0	T	206632020	C	T	206632020	3	4	22	1	0	0	0	0	1	0	0	0	15202	477	17	2	2377	2	SRGAP2	1	206632020	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	300809	206632020	42618601	1657	3803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000462698.1_Intron|IKBKE_ENST00000537984.1_5'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													60	284					5.5144e-22	6.22847e-22	1	1	0	A	206647703	C	A	206647703	2	1	22	1	0	0	0	0	0	0	0	1	7656	900	32	2		2	IKBKE	1	206647703	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15683	206647703	42602918	1658	3804											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000462698.1_3'UTR|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)	48	332					0	0	1	0	0	T	206664154	C	T	206664154	3	4	22	1	0	0	0	0	1	0	0	0	7656	797	28	2	1754	2	IKBKE	1	206664154	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16451	206664154	42586467	1659	3805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000338603.2_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													19	379					0	0	1	0	0	C	206730965	T	C	206730965	3	2	22	1	0	0	0	0	1	0	0	0	13141	1609	56	3	653	3	RASSF5	1	206730965	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	66811	206730965	42519656	1660	3806											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Missense_Mutation_p.D335N|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													89	523					0	0	1	0	0	A	206821546	G	A	206821546	3	1	22	1	0	0	0	0	1	0	0	0	4883	1058	37	1	1034	1	DYRK3	1	206821546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90581	206821546	42429075	1661	3807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442471.2_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.Q93H	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													21	557					2.4624e-09	2.59004e-09	1	1	0	A	207087198	C	A	207087198	3	1	22	1	0	0	0	0	1	0	0	0	5408	796	28	2	921	2	FAIM3	1	207087198	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	265652	207087198	42163423	1662	3808											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442471.2_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.L29M	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													174	426					8.57523e-64	1.0829e-63	1	1	0	T	207087392	G	T	207087392	3	4	22	1	0	0	0	0	1	0	0	0	5408	962	34	2	1115	2	FAIM3	1	207087392	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194	207087392	42163229	1663	3809											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	368					0	0	1	0	0	A	207131926	G	A	207131926	3	1	22	1	0	0	0	0	1	0	0	0	5805	971	34	2	68	2	FCAMR	1	207131926	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44534	207131926	42118695	1664	3810											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	133					0	0	1	0	0	A	207195513	G	A	207195513	2	1	22	1	0	0	0	0	0	0	0	1	2002	1219	43	2		2	C1orf116	1	207195513	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63587	207195513	42055108	1665	3811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	328					0	0	1	0	0	A	207198256	G	A	207198256	3	1	22	1	0	0	0	0	1	0	0	0	2002	1203	42	2	1554	2	C1orf116	1	207198256	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2743	207198256	42052365	1666	3812											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|PFKFB2_ENST00000411990.2_5'UTR|YOD1_ENST00000315927.4_Silent_p.T152T	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													61	188					0	0	1	0	0	A	207222956	G	A	207222956	2	1	22	1	0	0	0	0	0	0	0	1	17548	1103	39	1		1	YOD1	1	207222956	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24700	207222956	42027665	1667	3813											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545806.1_Missense_Mutation_p.R150I|PFKFB2_ENST00000411990.2_Missense_Mutation_p.R85I|PFKFB2_ENST00000367079.2_Missense_Mutation_p.R183I|PFKFB2_ENST00000541914.1_5'UTR	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													56	255					1.54886e-18	1.72018e-18	1	1	0	T	207238421	G	T	207238421	3	4	22	1	0	0	0	0	1	0	0	0	11809	942	33	2	574	2	PFKFB2	1	207238421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15465	207238421	42012200	1668	3814											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000391920.4_Missense_Mutation_p.Y127C|CD55_ENST00000367062.4_Missense_Mutation_p.Y127C|CD55_ENST00000367065.5_Missense_Mutation_p.Y127C|CD55_ENST00000367063.2_Missense_Mutation_p.Y127C|CD55_ENST00000314754.8_Missense_Mutation_p.Y127C|CD55_ENST00000367067.4_Intron|CD55_ENST00000391921.4_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													93	355					0	0	1	0	0	G	207497997	A	G	207497997	3	3	22	1	0	0	0	0	1	0	0	0	3046	449	16	3	390	3	CD55	1	207497997	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	259576	207497997	41752624	1669	3815											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Missense_Mutation_p.L283F|CR2_ENST00000367059.3_Missense_Mutation_p.L283F	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													75	404					0	0	1	0	0	T	207643069	C	T	207643069	3	4	22	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	1670	3816											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	239					0	0	1	0	0	G	207643379	A	G	207643379	3	3	22	1	0	0	0	0	1	0	0	0	3865	72	3	3	1179	3	CR2	1	207643379	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	310	207643379	41607242	1671	3817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													159	443					0	0	1	0	0	T	207648341	C	T	207648341	2	4	22	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	1672	3818											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400960.2_Silent_p.P15P|CR1_ENST00000367052.1_Silent_p.P15P|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367053.1_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													10	302					0	0	1	0	0	A	207669657	G	A	207669657	2	1	22	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	1673	3819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400960.2_Missense_Mutation_p.D176N|CR1_ENST00000367052.1_Missense_Mutation_p.D176N|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367053.1_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													11	339					0	0	1	0	0	A	207696994	G	A	207696994	3	1	22	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	1674	3820											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	766					6.21321e-17	6.84222e-17	1	1	0	A	207850896	C	A	207850896	3	1	22	1	0	0	0	0	1	0	0	0	3864	797	28	2	266	2	CR1L	1	207850896	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153902	207850896	41399725	1675	3821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	668					0	0	1	0	0	T	207881576	C	T	207881576	3	4	22	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	1676	3822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	574					0	0	1	0	0	G	207891028	T	G	207891028	3	3	22	1	0	0	0	0	1	0	0	0	3864	1725	60	3	1676	3	CR1L	1	207891028	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9452	207891028	41359593	1677	3823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360212.2_Intron|CD46_ENST00000361067.1_Intron|CD46_ENST00000367047.1_Missense_Mutation_p.Y265H|CD46_ENST00000367041.1_Missense_Mutation_p.Y298H|CD46_ENST00000354848.1_Missense_Mutation_p.Y313H|CD46_ENST00000322918.5_Missense_Mutation_p.Y298H|CD46_ENST00000441839.2_Missense_Mutation_p.Y313H|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322875.4_Missense_Mutation_p.Y328H|CD46_ENST00000480003.1_Intron|CD46_ENST00000357714.1_Missense_Mutation_p.Y298H|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													21	517					0	0	1	0	0	C	207943701	T	C	207943701	3	2	22	1	0	0	0	0	1	0	0	0	3040	1754	61	3	1016	3	CD46	1	207943701	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	52673	207943701	41306920	1678	3824											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537704.1_Missense_Mutation_p.L97F|CD34_ENST00000367036.3_Missense_Mutation_p.L74F|CD34_ENST00000485761.1_5'UTR|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													5	183					0	0	1	0	0	A	208062870	G	A	208062870	3	1	22	1	0	0	0	0	1	0	0	0	3028	971	34	2	498	2	CD34	1	208062870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119169	208062870	41187751	1679	3825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	208					0	0	1	0	0	T	208217871	C	T	208217871	3	4	22	1	0	0	0	0	1	0	0	0	12168	739	26	2	1880	2	PLXNA2	1	208217871	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155001	208217871	41032750	1680	3826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	262					0	0	1	0	0	T	208224623	C	T	208224623	3	4	22	1	0	0	0	0	1	0	0	0	12168	893	31	1	2613	1	PLXNA2	1	208224623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6752	208224623	41025998	1681	3827											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	365					0	0	1	0	0	A	208257763	G	A	208257763	3	1	22	1	0	0	0	0	1	0	0	0	12168	1087	38	1	3516	1	PLXNA2	1	208257763	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33140	208257763	40992858	1682	3828											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	223					0	0	1	0	0	A	208266196	G	A	208266196	3	1	22	1	0	0	0	0	1	0	0	0	12168	1116	39	1	3748	1	PLXNA2	1	208266196	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8433	208266196	40984425	1683	3829											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	183					0	0	1	0	0	T	208383704	C	T	208383704	3	4	22	1	0	0	0	0	1	0	0	0	12168	768	27	1	4512	1	PLXNA2	1	208383704	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117508	208383704	40866917	1684	3830											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													354	746					0	0	1	0	0	A	208390732	T	A	208390732	3	1	22	1	0	0	0	0	1	0	0	0	12168	1435	50	5	5272	5	PLXNA2	1	208390732	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7028	208390732	40859889	1685	3831											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Missense_Mutation_p.S273I			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													49	232					5.39261e-20	6.03032e-20	1	1	0	T	209783265	G	T	209783265	3	4	22	1	0	0	0	0	1	0	0	0	2616	1029	36	2	848	2	CAMK1G	1	209783265	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1392533	209783265	39467356	1686	3832											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367030.3_Missense_Mutation_p.A832S|LAMB3_ENST00000356082.4_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													76	787					1.50424e-25	1.72683e-25	1	1	0	A	209796389	C	A	209796389	3	1	22	1	0	0	0	0	1	0	0	0	8651	739	26	2	1052	2	LAMB3	1	209796389	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13124	209796389	39454232	1687	3833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000367027.3_Missense_Mutation_p.K44E|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													113	272					0	0	1	0	0	G	209879197	A	G	209879197	3	3	22	1	0	0	0	0	1	0	0	0	7416	131	5	3	136	3	HSD11B1	1	209879197	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	82808	209879197	39371424	1688	3834											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400959.3_Silent_p.L129L|TRAF3IP3_ENST00000367026.3_Silent_p.L129L|TRAF3IP3_ENST00000367025.3_Silent_p.L149L|TRAF3IP3_ENST00000010338.4_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													63	301					0	0	1	0	0	G	209935961	T	G	209935961	2	3	22	1	0	0	0	0	0	0	0	1	16503	1770	62	3		3	TRAF3IP3	1	209935961	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	56764	209935961	39314660	1689	3835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	553					0	0	1	0	0	A	209956186	G	A	209956186	3	1	22	1	0	0	0	0	1	0	0	0	2072	1116	39	1	19	1	C1orf74	1	209956186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20225	209956186	39294435	1690	3836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	462					2.47556e-37	2.97223e-37	1	1	0	A	209956266	C	A	209956266	3	1	22	1	0	0	0	0	1	0	0	0	2072	624	22	2	99	2	C1orf74	1	209956266	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	209956266	39294355	1691	3837											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													134	445					0	0	1	0	0	T	209956447	C	T	209956447	3	4	22	1	0	0	0	0	1	0	0	0	2072	739	26	2	280	2	C1orf74	1	209956447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	181	209956447	39294174	1692	3838											
IRF6	3664	broad.mit.edu	37	chr1	209963840	209963840	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctgagaaatgacttacCgctaaggaatgtttccagac	8	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209963840C>T	ENST00000367021.3	-	7	1232	c.1060_splice	c.e7+1	p.D354_splice	IRF6_ENST00000542854.1_Splice_Site_p.D259_splice	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	354					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)		AATGACTTACCGCTAAGGAAT	0.473										HNSCC(57;0.16)			68	215					0	0	1	0	0	T	209963840	C	T	209963840	5	4	22	1	0	0	0	0	0	0	1	0	7878	666	23	1	355	1	IRF6	1	209963840	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7393	209963840	39286781	1693	3839											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			57	272					0	0	1	0	0	G	209963951	A	G	209963951	3	3	22	1	0	0	0	0	1	0	0	0	7878	159	6	3	466	3	IRF6	1	209963951	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	111	209963951	39286670	1694	3840											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			46	181					0	0	1	0	0	T	209965773	C	T	209965773	5	4	22	1	0	0	0	0	0	0	1	0	7878	695	24	2	911	2	IRF6	1	209965773	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1822	209965773	39284848	1695	3841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			66	193					0	0	1	0	0	G	209969826	C	G	209969826	3	3	22	1	0	0	0	0	1	0	0	0	7878	796	28	5	1181	5	IRF6	1	209969826	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4053	209969826	39280795	1696	3842											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534859.1_Missense_Mutation_p.D254A|SYT14_ENST00000367015.1_Missense_Mutation_p.D216A|SYT14_ENST00000367019.1_Missense_Mutation_p.D254A|SYT14_ENST00000422431.1_Missense_Mutation_p.D299A|SYT14_ENST00000472886.1_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													69	221					0	0	1	0	0	C	210273403	A	C	210273403	3	2	22	1	0	0	0	0	1	0	0	0	15527	333	12	3	922	3	SYT14	1	210273403	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	303577	210273403	38977218	1697	3843											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	345					7.59108e-50	9.39492e-50	1	1	0	A	210415304	C	A	210415304	2	1	22	1	0	0	0	0	0	0	0	1	14177	668	24	2		2	SERTAD4	1	210415304	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141901	210415304	38835317	1698	3844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	289					0	0	1	0	0	A	210415325	G	A	210415325	2	1	22	1	0	0	0	0	0	0	0	1	14177	1045	37	1		1	SERTAD4	1	210415325	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	210415325	38835296	1699	3845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	251					0	0	1	0	0	A	210415340	G	A	210415340	2	1	22	1	0	0	0	0	0	0	0	1	14177	991	35	2		2	SERTAD4	1	210415340	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	210415340	38835281	1700	3846											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413764.2_Missense_Mutation_p.V445L|HHAT_ENST00000308852.6_Missense_Mutation_p.V400L|HHAT_ENST00000367009.1_Missense_Mutation_p.V135L|HHAT_ENST00000391905.3_Missense_Mutation_p.V445L|HHAT_ENST00000541565.1_Missense_Mutation_p.V308L|HHAT_ENST00000537898.1_Missense_Mutation_p.V380L|HHAT_ENST00000545781.1_Missense_Mutation_p.V382L|HHAT_ENST00000261458.3_Missense_Mutation_p.V445L	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													509	1329					7.53427e-84	9.64898e-84	1	1	0	T	210796957	G	T	210796957	3	4	22	1	0	0	0	0	1	0	0	0	7130	1261	44	2	1469	2	HHAT	1	210796957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	381617	210796957	38453664	1701	3847											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	272					0	0	1	0	0	T	210857251	C	T	210857251	3	4	22	1	0	0	0	0	1	0	0	0	8075	797	28	2	631	2	KCNH1	1	210857251	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60294	210857251	38393370	1702	3848											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	306					2.12129e-23	2.41242e-23	1	1	0	A	210971047	C	A	210971047	3	1	22	1	0	0	0	0	1	0	0	0	8075	768	27	4	1263	4	KCNH1	1	210971047	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113796	210971047	38279574	1703	3849											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	468					1.97301e-41	2.39674e-41	1	1	0	A	211280608	C	A	211280608	3	1	22	1	0	0	0	0	1	0	0	0	8075	797	28	2	2818	2	KCNH1	1	211280608	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	309561	211280608	37970013	1704	3850											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000452621.2_Silent_p.L123L|RCOR3_ENST00000367006.4_Silent_p.L123L|RCOR3_ENST00000419091.2_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													265	775					0	0	1	0	0	A	211449613	G	A	211449613	2	1	22	1	0	0	0	0	0	0	0	1	13236	1368	48	2		2	RCOR3	1	211449613	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169005	211449613	37801008	1705	3851											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211545602C>T	ENST00000336184.2	+	11	1292	c.1232C>T	c.(1231-1233)aCa>aTa	p.T411I	TRAF5_ENST00000427925.2_Missense_Mutation_p.T305I|TRAF5_ENST00000367004.3_Missense_Mutation_p.T411I|TRAF5_ENST00000261464.5_Missense_Mutation_p.T411I	NM_004619.3	NP_004610.1	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													271	730					0	0	1	0	0	T	211545602	C	T	211545602	3	4	22	1	0	0	0	0	1	0	0	0	16505	478	17	2	1270	2	TRAF5	1	211545602	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95989	211545602	37705019	1706	3852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	261					0	0	1	0	0	C	211749594	T	C	211749594	2	2	22	1	0	0	0	0	0	0	0	1	14608	1625	57	3		3	SLC30A1	1	211749594	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	203992	211749594	37501027	1707	3853											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366992.3_Silent_p.S603S|INTS7_ENST00000440600.2_Silent_p.S554S|INTS7_ENST00000366993.3_Silent_p.S603S|INTS7_ENST00000469606.1_5'UTR	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													52	167					9.59835e-30	1.1228e-29	1	1	0	T	212148514	G	T	212148514	2	4	22	1	0	0	0	0	0	0	0	1	7827	987	35	2		2	INTS7	1	212148514	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	398920	212148514	37102107	1708	3854											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366992.3_Silent_p.L460L|INTS7_ENST00000440600.2_Silent_p.L411L|INTS7_ENST00000366993.3_Silent_p.L460L|INTS7_ENST00000469606.1_5'UTR	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													90	521					0	0	1	0	0	T	212151704	C	T	212151704	2	4	22	1	0	0	0	0	0	0	0	1	7827	697	25	2		2	INTS7	1	212151704	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3190	212151704	37098917	1709	3855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366992.3_Missense_Mutation_p.A188V|INTS7_ENST00000440600.2_Missense_Mutation_p.A139V|INTS7_ENST00000366993.3_Missense_Mutation_p.A188V|INTS7_ENST00000469606.1_5'UTR	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													56	291					0	0	1	0	0	A	212180785	G	A	212180785	3	1	22	1	0	0	0	0	1	0	0	0	7827	1087	38	1	2385	1	INTS7	1	212180785	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29081	212180785	37069836	1710	3856											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542077.1_Silent_p.S323S|DTL_ENST00000475419.1_3'UTR	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													88	310					0	0	1	0	0	G	212251574	T	G	212251574	2	3	22	1	0	0	0	0	0	0	0	1	4813	1567	55	3		3	DTL	1	212251574	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	70789	212251574	36999047	1711	3857											
PPP2R5A	5525	broad.mit.edu	37	chr1	212502503	212502504	+	Frame_Shift_Ins	INS	-	-	T													ttcaaatgaacaacaagagcINSttttctgtcagaagttgcag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212502503_212502504insT	ENST00000261461.2	+	2	782_783	c.208_209insT	c.(208-210)tttfs	p.F70fs	PPP2R5A_ENST00000537030.3_Frame_Shift_Ins_p.F13fs|PPP2R5A_ENST00000498129.1_3'UTR|RP11-384C4.7_ENST00000442146.1_RNA	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	70					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)		ACAACAAGAGCTTTTCTGTCAG	0.292													23	279	---	---	---	---						T	212502504	-	T	212502503	7	5	22	1	0	1	1	0	0	0	0	0	12441	797	28	0	214	0	PPP2R5A	1	212502503	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	250929	212502503	36748118	1712	3858											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498129.1_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													70	297					0	0	1	0	0	A	212519209	G	A	212519209	3	1	22	1	0	0	0	0	1	0	0	0	12441	1058	37	1	656	1	PPP2R5A	1	212519209	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16706	212519209	36731412	1713	3859											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	288					0	0	1	0	0	A	212548540	G	A	212548540	4	1	22	1	0	0	0	0	0	1	0	0	16191	1357	47	2	174	2	TMEM206	1	212548540	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29331	212548540	36702081	1714	3860											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366985.1_Nonsense_Mutation_p.R35*|ATF3_ENST00000366983.1_Nonsense_Mutation_p.R92*|ATF3_ENST00000492118.1_Intron|ATF3_ENST00000336937.4_Nonsense_Mutation_p.R63*	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													40	443					0	0	1	0	0	T	212791502	C	T	212791502	4	4	22	1	0	0	0	0	0	1	0	0	1080	760	27	1	280	1	ATF3	1	212791502	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	242962	212791502	36459119	1715	3861											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	175					0	0	1	0	0	T	212799202	C	T	212799202	3	4	22	1	0	0	0	0	1	0	0	0	5642	739	26	2	985	2	FAM71A	1	212799202	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7700	212799202	36451419	1716	3862											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	232					0	0	1	0	0	T	213032402	C	T	213032402	3	4	22	1	0	0	0	0	1	0	0	0	5978	507	18	2	610	2	FLVCR1	1	213032402	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	233200	213032402	36218219	1717	3863											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	239					0	0	1	0	0	T	213032418	C	T	213032418	2	4	22	1	0	0	0	0	0	0	0	1	5978	805	28	2		2	FLVCR1	1	213032418	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	213032418	36218203	1718	3864											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544555.1_Intron|ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000535388.1_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													74	778					0	0	1	0	0	C	213186643	T	C	213186643	2	2	22	1	0	0	0	0	0	0	0	1	605	1654	58	3		3	ANGEL2	1	213186643	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	154225	213186643	36063978	1719	3865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.A599S|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.A884S|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.A684S	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													146	372					1.55947e-51	1.93603e-51	1	1	0	T	213415505	G	T	213415505	3	4	22	1	0	0	0	0	1	0	0	0	13710	971	34	2	2728	2	RPS6KC1	1	213415505	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	228862	213415505	35835116	1720	3866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000435016.1_Missense_Mutation_p.P88S|PROX1_ENST00000498508.2_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													59	371					0	0	1	0	0	T	214170140	C	T	214170140	3	4	22	1	0	0	0	0	1	0	0	0	12612	855	30	2	264	2	PROX1	1	214170140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	754635	214170140	35080481	1721	3867											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000435016.1_Missense_Mutation_p.D285G|PROX1_ENST00000498508.2_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													81	247					0	0	1	0	0	G	214170732	A	G	214170732	3	3	22	1	0	0	0	0	1	0	0	0	12612	333	12	3	856	3	PROX1	1	214170732	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	592	214170732	35079889	1722	3868											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000435016.1_Missense_Mutation_p.F424V|PROX1_ENST00000498508.2_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													173	560					0	0	1	0	0	G	214171148	T	G	214171148	3	3	22	1	0	0	0	0	1	0	0	0	12612	1609	56	3	1272	3	PROX1	1	214171148	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	416	214171148	35079473	1723	3869											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415093.2_Missense_Mutation_p.N212T|SMYD2_ENST00000491455.1_3'UTR	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)	80	444					0	0	1	0	0	C	214500997	A	C	214500997	3	2	22	1	0	0	0	0	1	0	0	0	14876	101	4	3	661	3	SMYD2	1	214500997	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	329849	214500997	34749624	1724	3870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415093.2_Missense_Mutation_p.P232L|SMYD2_ENST00000491455.1_3'UTR	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)	62	273					0	0	1	0	0	T	214501057	C	T	214501057	3	4	22	1	0	0	0	0	1	0	0	0	14876	652	23	1	721	1	SMYD2	1	214501057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	214501057	34749564	1725	3871											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													119	555					0	0	1	0	0	G	214546067	A	G	214546067	3	3	22	1	0	0	0	0	1	0	0	0	12833	275	10	3	556	3	PTPN14	1	214546067	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45010	214546067	34704554	1726	3872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	220					0	0	1	0	0	T	214557227	C	T	214557227	2	4	22	1	0	0	0	0	0	0	0	1	12833	755	27	1		1	PTPN14	1	214557227	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11160	214557227	34693394	1727	3873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	327					0	0	1	0	0	T	214557310	C	T	214557310	3	4	22	1	0	0	0	0	1	0	0	0	12833	739	26	2	1703	2	PTPN14	1	214557310	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83	214557310	34693311	1728	3874											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	825					0.00244969	0.00247089	1	1	0	A	214575046	C	A	214575046	3	1	22	1	0	0	0	0	1	0	0	0	12833	680	24	2	2964	2	PTPN14	1	214575046	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17736	214575046	34675575	1729	3875											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	248					0	0	1	0	0	A	214813956	G	A	214813956	3	1	22	1	0	0	0	0	1	0	0	0	3253	1059	37	1	2317	1	CENPF	1	214813956	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	238910	214813956	34436665	1730	3876											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	297					4.1673e-28	4.84001e-28	1	1	0	T	214815450	G	T	214815450	4	4	22	1	0	0	0	0	0	1	0	0	3253	943	33	2	3811	2	CENPF	1	214815450	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1494	214815450	34435171	1731	3877											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	235					2.64514e-33	3.13428e-33	1	1	0	T	214818475	G	T	214818475	3	4	22	1	0	0	0	0	1	0	0	0	3253	991	35	2	5608	2	CENPF	1	214818475	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3025	214818475	34432146	1732	3878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	374					0	0	1	0	0	A	214819626	G	A	214819626	3	1	22	1	0	0	0	0	1	0	0	0	3253	1029	36	2	6759	2	CENPF	1	214819626	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1151	214819626	34430995	1733	3879											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	227					1.21353e-23	1.38083e-23	1	1	0	A	215775224	C	A	215775224	3	1	22	1	0	0	0	0	1	0	0	0	8154	855	30	2	991	2	KCTD3	1	215775224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	955598	215775224	33475397	1734	3880											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													129	379					0	0	1	0	0	A	215793638	G	A	215793638	3	1	22	1	0	0	0	0	1	0	0	0	8154	942	33	2	2196	2	KCTD3	1	215793638	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18414	215793638	33456983	1735	3881											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	399					9.42799e-54	1.17567e-53	1	1	0	T	215793742	G	T	215793742	4	4	22	1	0	0	0	0	0	1	0	0	8154	943	33	2	2300	2	KCTD3	1	215793742	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104	215793742	33456879	1736	3882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			239	740					0	0	1	0	0	A	215812508	G	A	215812508	3	1	22	1	0	0	0	0	1	0	0	0	17096	942	33	2	583	2	USH2A	1	215812508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18766	215812508	33438113	1737	3883											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			19	301					8.00594e-06	8.21907e-06	1	1	0	T	215820899	G	T	215820899	3	4	22	1	0	0	0	0	1	0	0	0	17096	971	34	2	876	2	USH2A	1	215820899	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8391	215820899	33429722	1738	3884											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			8	327					0	0	1	0	0	A	215844619	G	A	215844619	4	1	22	1	0	0	0	0	0	1	0	0	17096	1299	45	2	1816	2	USH2A	1	215844619	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23720	215844619	33406002	1739	3885											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			74	275					0	0	1	0	0	A	215848163	G	A	215848163	3	1	22	1	0	0	0	0	1	0	0	0	17096	942	33	2	2558	2	USH2A	1	215848163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3544	215848163	33402458	1740	3886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			43	219					0	0	1	0	0	A	215960182	G	A	215960182	3	1	22	1	0	0	0	0	1	0	0	0	17096	942	33	2	5475	2	USH2A	1	215960182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112019	215960182	33290439	1741	3887											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			22	658					0	0	1	0	0	A	215990410	G	A	215990410	3	1	22	1	0	0	0	0	1	0	0	0	17096	971	34	2	6209	2	USH2A	1	215990410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30228	215990410	33260211	1742	3888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			84	526					0	0	1	0	0	T	216011418	C	T	216011418	3	4	22	1	0	0	0	0	1	0	0	0	17096	536	19	1	6426	1	USH2A	1	216011418	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21008	216011418	33239203	1743	3889											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			32	215					0	0	1	0	0	A	216019173	G	A	216019173	2	1	22	1	0	0	0	0	0	0	0	1	17096	1079	38	1		1	USH2A	1	216019173	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7755	216019173	33231448	1744	3890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			68	255					1.17253e-29	1.37085e-29	1	1	0	A	216040414	C	A	216040414	3	1	22	1	0	0	0	0	1	0	0	0	17096	913	32	2	6944	2	USH2A	1	216040414	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21241	216040414	33210207	1745	3891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.T2619S			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)			83	245					0	0	1	0	0	A	216062136	T	A	216062136	3	1	22	1	0	0	0	0	1	0	0	0	17096	1667	58	5	7881	5	USH2A	1	216062136	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21722	216062136	33188485	1746	3892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			42	237					0	0	1	0	0	C	216243446	T	C	216243446	3	2	22	1	0	0	0	0	1	0	0	0	17096	1696	59	3	9734	3	USH2A	1	216243446	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	181310	216243446	33007175	1747	3893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.N1758T|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_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)			123	344					0	0	1	0	0	G	216256823	T	G	216256823	3	3	22	1	0	0	0	0	1	0	0	0	17096	1725	60	3	10523	3	USH2A	1	216256823	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13377	216256823	32993798	1748	3894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.I1665L|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_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)			108	292					0	0	1	0	0	G	216258214	T	G	216258214	3	3	22	1	0	0	0	0	1	0	0	0	17096	1493	52	3	10807	3	USH2A	1	216258214	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1391	216258214	32992407	1749	3895											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			23	280					0	0	1	0	0	G	216270488	A	G	216270488	2	3	22	1	0	0	0	0	0	0	0	1	17096	330	12	3		3	USH2A	1	216270488	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12274	216270488	32980133	1750	3896											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			72	221					0	0	1	0	0	A	216390747	G	A	216390747	2	1	22	1	0	0	0	0	0	0	0	1	17096	933	33	2		2	USH2A	1	216390747	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120259	216390747	32859874	1751	3897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			35	160					0	0	1	0	0	C	216424250	A	C	216424250	3	2	22	1	0	0	0	0	1	0	0	0	17096	43	2	3	13704	3	USH2A	1	216424250	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33503	216424250	32826371	1752	3898											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			28	366					0	0	1	0	0	C	216465665	A	C	216465665	2	2	22	1	0	0	0	0	0	0	0	1	17096	146	6	3		3	USH2A	1	216465665	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41415	216465665	32784956	1753	3899											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			64	295					0	0	1	0	0	G	216595582	A	G	216595582	3	3	22	1	0	0	0	0	1	0	0	0	17096	275	10	3	15809	3	USH2A	1	216595582	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	129917	216595582	32655039	1754	3900											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	257					0	0	1	0	0	A	217824443	T	A	217824443	3	1	22	1	0	0	0	0	1	0	0	0	15058	1838	64	5	173	5	SPATA17	1	217824443	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1228861	217824443	31426178	1755	3901											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	631					0	0	1	0	0	C	218036156	A	C	218036156	3	2	22	1	0	0	0	0	1	0	0	0	15058	72	3	3	1084	3	SPATA17	1	218036156	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	211713	218036156	31214465	1756	3902											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	397					0	0	1	0	0	T	218520115	C	T	218520115	2	4	22	1	0	0	0	0	0	0	0	1	15878	718	25	2		2	TGFB2	1	218520115	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	483959	218520115	30730506	1757	3903											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:219366593G>T	ENST00000366928.5	+	3	408	c.361_splice	c.e3+1	p.G121_splice	LYPLAL1_ENST00000366927.3_Splice_Site_p.G105_splice|LYPLAL1_ENST00000483635.1_3'UTR	NM_138794.3	NP_620149.1	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													34	115					2.20474e-14	2.39557e-14	1	1	0	T	219366593	G	T	219366593	5	4	22	1	0	0	0	0	0	0	1	0	9164	1014	35	2	371	2	LYPLAL1	1	219366593	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	846478	219366593	29884028	1758	3904											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.A59T	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													113	597					0	0	1	0	0	T	220091645	C	T	220091645	3	4	22	1	0	0	0	0	1	0	0	0	14609	710	25	2	555	2	SLC30A10	1	220091645	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	725052	220091645	29158976	1759	3905											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	602					0	0	1	0	0	C	220146653	T	C	220146653	3	2	22	1	0	0	0	0	1	0	0	0	5219	1667	58	3	383	3	EPRS	1	220146653	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	55008	220146653	29103968	1760	3906											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	225					0	0	1	0	0	C	220240718	T	C	220240718	3	2	22	1	0	0	0	0	1	0	0	0	1496	1725	60	3	542	3	BPNT1	1	220240718	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	94065	220240718	29009903	1761	3907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	258					0	0	1	0	0	G	220253166	A	G	220253166	3	3	22	1	0	0	0	0	1	0	0	0	1496	131	5	3	935	3	BPNT1	1	220253166	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12448	220253166	28997455	1762	3908											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220384297C>A	ENST00000358951.2	-	5	550	c.434_splice	c.e5+1	p.R145_splice		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													21	129					3.62473e-10	3.83521e-10	1	1	0	A	220384297	C	A	220384297	5	1	22	1	0	0	0	0	0	0	1	0	12988	695	24	2	3871	2	RAB3GAP2	1	220384297	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131131	220384297	28866324	1763	3909											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	289					0	0	1	0	0	T	220804392	C	T	220804392	4	4	22	1	0	0	0	0	0	1	0	0	9362	876	31	1	963	1	MARK1	1	220804392	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	420095	220804392	28446229	1764	3910											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	197					0	0	1	0	0	A	221057562	G	A	221057562	3	1	22	1	0	0	0	0	1	0	0	0	7257	1116	39	1	997	1	HLX	1	221057562	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	253170	221057562	28193059	1765	3911											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000323825.3_Missense_Mutation_p.V77I|DUSP10_ENST00000468085.1_5'UTR|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													42	515					0	0	1	0	0	T	221875948	C	T	221875948	3	4	22	1	0	0	0	0	1	0	0	0	4836	536	19	1	197	1	DUSP10	1	221875948	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	818386	221875948	27374673	1766	3912											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	355					0	0	1	0	0	T	221913078	C	T	221913078	2	4	22	1	0	0	0	0	0	0	0	1	4836	523	19	1		1	DUSP10	1	221913078	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37130	221913078	27337543	1767	3913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	363					0	0	1	0	0	T	222713615	C	T	222713615	3	4	22	1	0	0	0	0	1	0	0	0	7135	884	31	1	1011	1	HHIPL2	1	222713615	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	800537	222713615	26537006	1768	3914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	222					0	0	1	0	0	G	222721298	A	G	222721298	3	3	22	1	0	0	0	0	1	0	0	0	7135	449	16	3	2121	3	HHIPL2	1	222721298	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7683	222721298	26529323	1769	3915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352967.4_Missense_Mutation_p.V446A|TAF1A_ENST00000391882.1_Missense_Mutation_p.V332A	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													38	184					0	0	1	0	0	G	222732018	A	G	222732018	3	3	22	1	0	0	0	0	1	0	0	0	15576	391	14	3	19	3	TAF1A	1	222732018	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10720	222732018	26518603	1770	3916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344441.6_Silent_p.D1173D|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000340535.7_Silent_p.D51D|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													48	97					0	0	1	0	0	C	222818937	T	C	222818937	2	2	22	1	0	0	0	0	0	0	0	1	9614	1490	52	3		3	MIA3	1	222818937	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	86919	222818937	26431684	1771	3917											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	514					0	0	1	0	0	T	223176548	C	T	223176548	2	4	22	1	0	0	0	0	0	0	0	1	4567	535	19	1		1	DISP1	1	223176548	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	357611	223176548	26074073	1772	3918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	384					1.58458e-29	1.85199e-29	1	1	0	A	223178682	C	A	223178682	3	1	22	1	0	0	0	0	1	0	0	0	4567	912	32	2	3969	2	DISP1	1	223178682	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2134	223178682	26071939	1773	3919											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	360					0	0	1	0	0	T	223178953	C	T	223178953	3	4	22	1	0	0	0	0	1	0	0	0	4567	536	19	1	4240	1	DISP1	1	223178953	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271	223178953	26071668	1774	3920											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	239					0	0	1	0	0	C	223284113	A	C	223284113	3	2	22	1	0	0	0	0	1	0	0	0	16014	333	12	3	319	3	TLR5	1	223284113	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	105160	223284113	25966508	1775	3921											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	531					5.25376e-55	6.56284e-55	1	1	0	T	223285335	G	T	223285335	3	4	22	1	0	0	0	0	1	0	0	0	16014	1000	35	2	1541	2	TLR5	1	223285335	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1222	223285335	25965286	1776	3922											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366878.4_Intron|SUSD4_ENST00000454695.2_Intron|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000343846.3_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													70	224					0	0	1	0	0	C	223408411	A	C	223408411	2	2	22	1	0	0	0	0	0	0	0	1	15466	1	1	3		3	SUSD4	1	223408411	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	123076	223408411	25842210	1777	3923											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366878.4_Missense_Mutation_p.A130V|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.A130V|SUSD4_ENST00000478605.1_5'UTR			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													111	366					0	0	1	0	0	A	223441990	G	A	223441990	3	1	22	1	0	0	0	0	1	0	0	0	15466	971	34	2	1260	2	SUSD4	1	223441990	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33579	223441990	25808631	1778	3924											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366878.4_Missense_Mutation_p.A81S|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.A81S|SUSD4_ENST00000478605.1_5'UTR			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													224	536					4.5518e-99	5.85322e-99	1	1	0	A	223465901	C	A	223465901	3	1	22	1	0	0	0	0	1	0	0	0	15466	797	28	2	1412	2	SUSD4	1	223465901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23911	223465901	25784720	1779	3925											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	144					0	0	1	0	0	T	223567616	C	T	223567616	3	4	22	1	0	0	0	0	1	0	0	0	2069	913	32	2	801	2	C1orf65	1	223567616	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101715	223567616	25683005	1780	3926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000391879.2_Missense_Mutation_p.R129H|TP53BP2_ENST00000498843.1_5'UTR|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													93	356					0	0	1	0	0	T	223983554	C	T	223983554	3	4	22	1	0	0	0	0	1	0	0	0	16445	768	27	1	741	1	TP53BP2	1	223983554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	415938	223983554	25267067	1781	3927											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	164					0	0	1	0	0	G	224380108	T	G	224380108	3	3	22	1	0	0	0	0	1	0	0	0	4450	1809	63	3	910	3	DEGS1	1	224380108	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	396554	224380108	24870513	1782	3928											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	277					0	0	1	0	0	A	224599257	G	A	224599257	3	1	22	1	0	0	0	0	1	0	0	0	17343	1232	43	2	987	2	WDR26	1	224599257	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219149	224599257	24651364	1783	3929											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	172					0	0	1	0	0	C	224619244	A	C	224619244	3	2	22	1	0	0	0	0	1	0	0	0	17343	246	9	3	1471	3	WDR26	1	224619244	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19987	224619244	24631377	1784	3930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	284					0	0	1	0	0	A	225591097	G	A	225591097	3	1	22	1	0	0	0	0	1	0	0	0	8691	1058	37	1	95	1	LBR	1	225591097	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	971853	225591097	23659524	1785	3931											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	665					7.65386e-43	9.33002e-43	1	1	0	A	226027621	C	A	226027621	3	1	22	1	0	0	0	0	1	0	0	0	5207	913	32	2	832	2	EPHX1	1	226027621	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	436524	226027621	23223000	1786	3932											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	124					0	0	1	0	0	T	226127113	C	T	226127113	3	4	22	1	0	0	0	0	1	0	0	0	8755	652	23	1	423	1	LEFTY2	1	226127113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99492	226127113	23123508	1787	3933											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	84					0	0	1	0	0	A	226128787	G	A	226128787	2	1	22	1	0	0	0	0	0	0	0	1	8755	1103	39	1		1	LEFTY2	1	226128787	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1674	226128787	23121834	1788	3934											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226347059C>A	ENST00000366812.5	-	5	783	c.728_splice	c.e5-1	p.K243_splice	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													58	321					2.5401e-28	2.95449e-28	1	1	0	A	226347059	C	A	226347059	5	1	22	1	0	0	0	0	0	0	1	0	123	753	26	2	873	2	ACBD3	1	226347059	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218272	226347059	22903562	1789	3935											
ACBD3	64746	broad.mit.edu	37	chr1	226349293	226349293	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctttcctcttcctcccgtcGaagcctttcctcttcttctc	3	19	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226349293G>A	ENST00000366812.5	-	4	721	c.667C>T	c.(667-669)Cga>Tga	p.R223*	ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	223	Arg-rich.|Glu-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)		tcctcccgtcgaagcctttcc	0.453													39	330					0	0	1	0	0	A	226349293	G	A	226349293	4	1	22	1	0	0	0	0	0	1	0	0	123	1066	37	1	939	1	ACBD3	1	226349293	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2234	226349293	22901328	1790	3936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557734.1_Intron|MIXL1_ENST00000542034.1_Missense_Mutation_p.D204G			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													185	479					0	0	1	0	0	G	226413401	A	G	226413401	3	3	22	1	0	0	0	0	1	0	0	0	9645	275	10	3	593	3	MIXL1	1	226413401	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	64108	226413401	22837220	1791	3937											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Silent_p.*241*			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													26	1009					0	0	1	0	0	A	226413512	G	A	226413512	2	1	22	1	0	0	0	0	0	0	0	1	9645	1304	45	2		2	MIXL1	1	226413512	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	226413512	22837109	1792	3938											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481685.1_Missense_Mutation_p.P262S|LIN9_ENST00000366801.1_Missense_Mutation_p.P246S	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													37	97					0	0	1	0	0	A	226454009	G	A	226454009	3	1	22	1	0	0	0	0	1	0	0	0	8854	1203	42	2	815	2	LIN9	1	226454009	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40497	226454009	22796612	1793	3939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226553752A>G	ENST00000366794.5	-	18	2551	c.2406_splice	c.e18-1	p.V803_splice	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					48	166					0	0	1	0	0	G	226553752	A	G	226553752	5	3	22	1	0	0	0	0	0	0	1	0	11501	173	6	3	660	3	PARP1	1	226553752	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	99743	226553752	22696869	1794	3940											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					193	558					0	0	1	0	0	A	226566902	G	A	226566902	2	1	22	1	0	0	0	0	0	0	0	1	11501	1048	37	1		1	PARP1	1	226566902	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13150	226566902	22683719	1795	3941											
PARP1	142	broad.mit.edu	37	chr1	226570820	226570820	+	Frame_Shift_Del	DEL	G	G	-													ccacggaggcgctggtttctGgggggaatatacggtcctgt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226570820delG	ENST00000366794.5	-	8	1219	c.1076delC	c.(1075-1077)cafs	p.P359fs		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	359					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)		GCTGGTTTCTGGGGGGAATAT	0.502								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					8	2371	---	---	---	---						-	226570820	G	-	226570820	7	5	22	1	0	1	0	1	0	0	0	0	11501	1348	47	0	2032	0	PARP1	1	226570820	Frame_Shift_Del	DEL	G	TCGA-IB-7651-01A-11D-2154-08	3918	226570820	22679801	1796	3942											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					104	350					0	0	1	0	0	A	226573298	G	A	226573298	2	1	22	1	0	0	0	0	0	0	0	1	11501	1078	38	1		1	PARP1	1	226573298	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2478	226573298	22677323	1797	3943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					67	352					0	0	1	0	0	A	226589969	G	A	226589969	3	1	22	1	0	0	0	0	1	0	0	0	11501	1057	37	1	2900	1	PARP1	1	226589969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16671	226589969	22660652	1798	3944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	361					0	0	1	0	0	T	226834905	C	T	226834905	3	4	22	1	0	0	0	0	1	0	0	0	7962	884	31	1	651	1	ITPKB	1	226834905	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244936	226834905	22415716	1799	3945											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	150					1.67942e-08	1.75525e-08	1	1	0	T	226835049	G	T	226835049	3	4	22	1	0	0	0	0	1	0	0	0	7962	991	35	2	795	2	ITPKB	1	226835049	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144	226835049	22415572	1800	3946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	94					0	0	1	0	0	C	226835077	A	C	226835077	3	2	22	1	0	0	0	0	1	0	0	0	7962	40	2	3	823	3	ITPKB	1	226835077	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28	226835077	22415544	1801	3947											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	181					0	0	1	0	0	A	226925067	G	A	226925067	2	1	22	1	0	0	0	0	0	0	0	1	7962	1078	38	1		1	ITPKB	1	226925067	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89990	226925067	22325554	1802	3948											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000472139.2_Missense_Mutation_p.A137V|PSEN2_ENST00000422240.2_Missense_Mutation_p.A281V|PSEN2_ENST00000366783.3_Missense_Mutation_p.A281V|PSEN2_ENST00000340188.4_Intron|PSEN2_ENST00000391872.2_Missense_Mutation_p.A314V			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													89	489					0	0	1	0	0	T	227077790	C	T	227077790	3	4	22	1	0	0	0	0	1	0	0	0	12700	739	26	2	864	2	PSEN2	1	227077790	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152723	227077790	22172831	1803	3949											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366767.3_Missense_Mutation_p.T1411N|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T1464N|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T1492N|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T1505N|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T1527N|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T1472N	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													14	112					2.31682e-05	2.36778e-05	1	1	0	T	227210999	G	T	227210999	3	4	22	1	0	0	0	0	1	0	0	0	3094	1261	44	2	708	2	CDC42BPA	1	227210999	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133209	227210999	22039622	1804	3950											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366767.3_Missense_Mutation_p.R1194C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R1247C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R1275C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R1288C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R1310C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R1255C	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													40	216					0	0	1	0	0	A	227216862	G	A	227216862	3	1	22	1	0	0	0	0	1	0	0	0	3094	1058	37	1	1368	1	CDC42BPA	1	227216862	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5863	227216862	22033759	1805	3951											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366767.3_Missense_Mutation_p.D806G|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D887G|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D887G|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D887G|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D887G|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D887G	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													11	689					0	0	1	0	0	C	227261640	T	C	227261640	3	2	22	1	0	0	0	0	1	0	0	0	3094	1435	50	3	2571	3	CDC42BPA	1	227261640	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44778	227261640	21988981	1806	3952											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366767.3_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000535525.1_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													11	367					0	0	1	0	0	T	227333377	C	T	227333377	3	4	22	1	0	0	0	0	1	0	0	0	3094	884	31	1	4319	1	CDC42BPA	1	227333377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71737	227333377	21917244	1807	3953											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227843057G>T	ENST00000343776.4	+	4	1451	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I	ZNF678_ENST00000397097.3_Missense_Mutation_p.R424I|ZNF678_ENST00000498759.1_Intron			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	424					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													65	199					5.82089e-37	6.98174e-37	1	1	0	T	227843057	G	T	227843057	3	4	22	1	0	0	0	0	1	0	0	0	18142	942	33	2	1285	2	ZNF678	1	227843057	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	509680	227843057	21407564	1808	3954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	187					0	0	1	0	0	A	227954674	G	A	227954674	3	1	22	1	0	0	0	0	1	0	0	0	14886	1232	43	2	1152	2	SNAP47	1	227954674	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111617	227954674	21295947	1809	3955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	WNT9A_ENST00000497852.1_Intron	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													44	512					3.86236e-30	4.52529e-30	1	1	0	T	228109546	G	T	228109546	2	4	22	1	0	0	0	0	0	0	0	1	17458	1335	47	2		2	WNT9A	1	228109546	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154872	228109546	21141075	1810	3956											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	57					0	0	1	0	0	T	228246984	C	T	228246984	3	4	22	1	0	0	0	0	1	0	0	0	17449	768	27	1	891	1	WNT3A	1	228246984	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137438	228246984	21003637	1811	3957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000478424.1_3'UTR|ARF1_ENST00000540651.1_Missense_Mutation_p.R79H|ARF1_ENST00000272102.5_Missense_Mutation_p.R79H	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													48	493					0	0	1	0	0	A	228285130	G	A	228285130	3	1	22	1	0	0	0	0	1	0	0	0	841	1087	38	1	242	1	ARF1	1	228285130	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38146	228285130	20965491	1812	3958											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	72					1.62849e-17	1.79894e-17	1	1	0	T	228345534	G	T	228345534	3	4	22	1	0	0	0	0	1	0	0	0	6457	991	35	2	77	2	GJC2	1	228345534	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60404	228345534	20905087	1813	3959											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	130					0	0	1	0	0	A	228345635	G	A	228345635	3	1	22	1	0	0	0	0	1	0	0	0	6457	1116	39	1	178	1	GJC2	1	228345635	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101	228345635	20904986	1814	3960											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422127.1_Silent_p.R1397R|OBSCN_ENST00000284548.11_Silent_p.R1397R|OBSCN_ENST00000366707.4_5'UTR|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													195	507					3.06238e-75	3.90405e-75	1	1	0	A	228437821	C	A	228437821	2	1	22	1	0	0	0	0	0	0	0	1	10860	876	31	4		4	OBSCN	1	228437821	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92186	228437821	20812800	1815	3961											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359599.6_Silent_p.C28C|OBSCN_ENST00000422127.1_Silent_p.C1464C|OBSCN_ENST00000284548.11_Silent_p.C1464C|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	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													14	309					0	0	1	0	0	T	228444434	C	T	228444434	2	4	22	1	0	0	0	0	0	0	0	1	10860	776	27	1		1	OBSCN	1	228444434	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6613	228444434	20806187	1816	3962											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359599.6_Missense_Mutation_p.A288S|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1632S|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1632S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	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													61	176					1.11057e-38	1.33964e-38	1	1	0	T	228456263	G	T	228456263	3	4	22	1	0	0	0	0	1	0	0	0	10860	971	34	2	4956	2	OBSCN	1	228456263	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11829	228456263	20794358	1817	3963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000359599.6_Missense_Mutation_p.A406V|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_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													48	266					0	0	1	0	0	T	228459737	C	T	228459737	3	4	22	1	0	0	0	0	1	0	0	0	10860	754	26	2		2	OBSCN	1	228459737	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3474	228459737	20790884	1818	3964											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000359599.6_Silent_p.D417D|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_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													63	281					0	0	1	0	0	T	228459771	C	T	228459771	2	4	22	1	0	0	0	0	0	0	0	1	10860	551	19	1		1	OBSCN	1	228459771	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34	228459771	20790850	1819	3965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000359599.6_Silent_p.S461S|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_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													44	198					4.18559e-23	4.75231e-23	1	1	0	A	228459903	C	A	228459903	2	1	22	1	0	0	0	0	0	0	0	1	10860	696	24	2		2	OBSCN	1	228459903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132	228459903	20790718	1820	3966											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.A822T|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1975T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1975T|RP5-1139B12.3_ENST00000602529.1_RNA	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													20	66					0	0	1	0	0	A	228462512	G	A	228462512	3	1	22	1	0	0	0	0	1	0	0	0	10860	1087	38	1	5997	1	OBSCN	1	228462512	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2609	228462512	20788109	1821	3967											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.A1646D|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A2799D|OBSCN_ENST00000422127.1_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													14	144					4.36969e-10	4.6211e-10	1	1	0	A	228469832	C	A	228469832	3	1	22	1	0	0	0	0	1	0	0	0	10860	797	28	2	8514	2	OBSCN	1	228469832	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7320	228469832	20780789	1822	3968											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366707.4_Silent_p.C106C|OBSCN_ENST00000359599.6_Silent_p.C1834C|OBSCN_ENST00000366709.4_Silent_p.C106C|OBSCN_ENST00000284548.11_Silent_p.C2987C|OBSCN_ENST00000422127.1_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													81	302					0	0	1	0	0	T	228471427	C	T	228471427	2	4	22	1	0	0	0	0	0	0	0	1	10860	776	27	1		1	OBSCN	1	228471427	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1595	228471427	20779194	1823	3969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228476588G>T	ENST00000570156.2	+	43	11699	c.11626_splice	c.e43+1	p.K3875_splice	OBSCN_ENST00000366707.4_Splice_Site_p.K565_splice|OBSCN_ENST00000359599.6_Splice_Site_p.K2293_splice|OBSCN_ENST00000366709.4_Splice_Site_p.K565_splice|OBSCN_ENST00000284548.11_Splice_Site_p.K3446_splice|OBSCN_ENST00000422127.1_Splice_Site_p.K3446_splice	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													35	256					2.75727e-19	3.0731e-19	1	1	0	T	228476588	G	T	228476588	5	4	22	1	0	0	0	0	0	0	1	0	10860	1014	35	2	10484	2	OBSCN	1	228476588	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5161	228476588	20774033	1824	3970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366707.4_Silent_p.Q801Q|OBSCN_ENST00000359599.6_Silent_p.Q2529Q|OBSCN_ENST00000366709.4_Silent_p.Q801Q|OBSCN_ENST00000284548.11_Silent_p.Q3682Q|OBSCN_ENST00000422127.1_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													85	425					0	0	1	0	0	A	228481232	G	A	228481232	2	1	22	1	0	0	0	0	0	0	0	1	10860	933	33	2		2	OBSCN	1	228481232	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4644	228481232	20769389	1825	3971											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366707.4_Missense_Mutation_p.Q1709H|OBSCN_ENST00000366709.4_Missense_Mutation_p.Q1194H|OBSCN_ENST00000284548.11_Missense_Mutation_p.Q4075H|OBSCN_ENST00000422127.1_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													10	422					4.68919e-08	4.88816e-08	1	1	0	T	228494991	G	T	228494991	3	4	22	1	0	0	0	0	1	0	0	0	10860	933	33	2	12403	2	OBSCN	1	228494991	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13759	228494991	20755630	1826	3972											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366707.4_Missense_Mutation_p.A2075T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1560T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4441T|OBSCN_ENST00000422127.1_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													7	158					0	0	1	0	0	A	228504445	G	A	228504445	3	1	22	1	0	0	0	0	1	0	0	0	10860	1087	38	1	13519	1	OBSCN	1	228504445	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9454	228504445	20746176	1827	3973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366707.4_Silent_p.L2848L|OBSCN_ENST00000366709.4_Silent_p.L2333L|OBSCN_ENST00000284548.11_Silent_p.L5214L|OBSCN_ENST00000422127.1_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													16	73					0	0	1	0	0	T	228511297	C	T	228511297	2	4	22	1	0	0	0	0	0	0	0	1	10860	842	30	2		2	OBSCN	1	228511297	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6852	228511297	20739324	1828	3974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228525846G>A	ENST00000570156.2	+	78	19946		c.e78+1		OBSCN_ENST00000366707.4_Splice_Site|OBSCN_ENST00000366709.4_Splice_Site|OBSCN_ENST00000284548.11_Splice_Site|OBSCN_ENST00000422127.1_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													33	98					0	0	1	0	0	A	228525846	G	A	228525846	5	1	22	1	0	0	0	0	0	0	1	0	10860	1275	44	2	17264	2	OBSCN	1	228525846	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14549	228525846	20724775	1829	3975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Silent_p.T3359T|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron			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													7	48					0	0	1	0	0	T	228547313	C	T	228547313	2	4	22	1	0	0	0	0	0	0	0	1	10860	581	21	2		2	OBSCN	1	228547313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21467	228547313	20703308	1830	3976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3366H|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron			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													7	52					0	0	1	0	0	A	228547333	G	A	228547333	3	1	22	1	0	0	0	0	1	0	0	0	10860	1145	40	1	19058	1	OBSCN	1	228547333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	228547333	20703288	1831	3977											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	201					0	0	1	0	0	A	228550349	G	A	228550349	3	1	22	1	0	0	0	0	1	0	0	0	10860	1203	42	2	20258	2	OBSCN	1	228550349	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3016	228550349	20700272	1832	3978											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	342					0	0	1	0	0	T	228553839	C	T	228553839	2	4	22	1	0	0	0	0	0	0	0	1	10860	883	31	1		1	OBSCN	1	228553839	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3490	228553839	20696782	1833	3979											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	136					2.32416e-17	2.56562e-17	1	1	0	A	228559352	C	A	228559352	3	1	22	1	0	0	0	0	1	0	0	0	10860	681	24	2	22453	2	OBSCN	1	228559352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5513	228559352	20691269	1834	3980											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	205					0	0	1	0	0	T	228559429	C	T	228559429	4	4	22	1	0	0	0	0	0	1	0	0	10860	760	27	1	22530	1	OBSCN	1	228559429	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77	228559429	20691192	1835	3981	27	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	200					0	0	1	0	0	T	228559432	C	T	228559432	2	4	22	1	0	0	0	0	0	0	0	1	10860	564	20	2		2	OBSCN	1	228559432	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3	228559432	20691189	1836	3982	27	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	202					5.35267e-07	5.54261e-07	1	1	0	A	228565678	C	A	228565678	2	1	22	1	0	0	0	0	0	0	0	1	10860	903	32	2		2	OBSCN	1	228565678	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6246	228565678	20684943	1837	3983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													146	387					0	0	1	0	0	A	228595985	G	A	228595985	3	1	22	1	0	0	0	0	1	0	0	0	16554	1232	43	2	86	2	TRIM17	1	228595985	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30307	228595985	20654636	1838	3984											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228596798delC	ENST00000456946.2	-	6	1333	c.958delG	c.(958-960)aafs	p.E320fs	RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000295033.3_Intron|TRIM17_ENST00000366697.2_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													43	211	---	---	---	---						-	228596798	C	-	228596798	7	5	22	1	0	1	0	1	0	0	0	0	16554	864	30	0	632	0	TRIM17	1	228596798	Frame_Shift_Del	DEL	C	TCGA-IB-7651-01A-11D-2154-08	813	228596798	20653823	1839	3985											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	551					2.96211e-45	3.63119e-45	1	1	0	T	228646088	G	T	228646088	3	4	22	1	0	0	0	0	1	0	0	0	7224	962	34	2	260	2	HIST3H2BB	1	228646088	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49290	228646088	20604533	1840	3986											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	353					0	0	1	0	0	C	228646167	T	C	228646167	3	2	22	1	0	0	0	0	1	0	0	0	7224	1667	58	3	339	3	HIST3H2BB	1	228646167	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	79	228646167	20604454	1841	3987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	625					0	0	1	0	0	T	229433282	C	T	229433282	3	4	22	1	0	0	0	0	1	0	0	0	12998	768	27	1	362	1	RAB4A	1	229433282	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	787115	229433282	19817339	1842	3988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	190					0	0	1	0	0	A	229567884	G	A	229567884	3	1	22	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	1843	3989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	281					0	0	1	0	0	T	229568761	C	T	229568761	2	4	22	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	1844	3990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	475					0	0	1	0	0	T	229568793	C	T	229568793	3	4	22	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	1845	3991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	988					7.30236e-35	8.69941e-35	1	1	0	A	229661725	C	A	229661725	3	1	22	1	0	0	0	0	1	0	0	0	41	681	24	2	368	2	ABCB10	1	229661725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92932	229661725	19588896	1846	3992											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	341					7.92265e-33	9.37054e-33	1	1	0	T	229675332	G	T	229675332	3	4	22	1	0	0	0	0	1	0	0	0	41	971	34	2	1038	2	ABCB10	1	229675332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13607	229675332	19575289	1847	3993											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366676.1_Silent_p.V165V|TAF5L_ENST00000258281.2_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													53	590					0	0	1	0	0	A	229738419	G	A	229738419	2	1	22	1	0	0	0	0	0	0	0	1	15586	1161	41	2		2	TAF5L	1	229738419	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63087	229738419	19512202	1848	3994											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	449					0	0	1	0	0	A	229773865	G	A	229773865	3	1	22	1	0	0	0	0	1	0	0	0	17085	1087	38	1	3515	1	URB2	1	229773865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35446	229773865	19476756	1849	3995											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	414					0	0	1	0	0	G	229790133	A	G	229790133	3	3	22	1	0	0	0	0	1	0	0	0	17085	247	9	3	4405	3	URB2	1	229790133	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16268	229790133	19460488	1850	3996											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													189	591					0	0	1	0	0	A	229795022	G	A	229795022	3	1	22	1	0	0	0	0	1	0	0	0	17085	1174	41	2	4587	2	URB2	1	229795022	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4889	229795022	19455599	1851	3997											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366672.4_Silent_p.V376V|GALNT2_ENST00000543760.1_Silent_p.V338V			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													15	393					1.62849e-17	1.79894e-17	1	1	0	A	230391082	C	A	230391082	3	1	22	1	0	0	0	0	1	0	0	0	6253	900	32	2	1170	2	GALNT2	1	230391082	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	596060	230391082	18859539	1852	3998											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|GALNT2_ENST00000541865.1_Silent_p.G265G|RP5-956O18.2_ENST00000440729.1_RNA	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													19	1349					0	0	1	0	0	G	230398351	A	G	230398351	3	3	22	1	0	0	0	0	1	0	0	0	6253	333	12	3	1215	3	GALNT2	1	230398351	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7269	230398351	18852270	1853	3999											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	200					0	0	1	0	0	T	230415072	C	T	230415072	2	4	22	1	0	0	0	0	0	0	0	1	6253	564	20	2		2	GALNT2	1	230415072	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16721	230415072	18835549	1854	4000											
PGBD5	79605	broad.mit.edu	37	chr1	230468691	230468691	+	Frame_Shift_Del	DEL	C	C	-													tcatcttgatttggtactggCcccgggccgggggtgtggct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230468691delC	ENST00000321327.2	-	7	1261	c.1262delG	c.(1261-1263)gcfs	p.G421fs	PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000525115.1_Frame_Shift_Del_p.G322fs|PGBD5_ENST00000391860.1_Frame_Shift_Del_p.G276fs			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	322						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)		TTGGTACTGGCCCCGGGCCGG	0.607													15	307	---	---	---	---						-	230468691	C	-	230468691	7	5	22	1	0	1	0	1	0	0	0	0	11832	739	26	0	414	0	PGBD5	1	230468691	Frame_Shift_Del	DEL	C	TCGA-IB-7651-01A-11D-2154-08	53619	230468691	18781930	1855	4001											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000391860.1_Missense_Mutation_p.S230I|PGBD5_ENST00000525115.1_Missense_Mutation_p.S276I			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													131	399					5.21138e-58	6.5303e-58	1	1	0	A	230472895	C	A	230472895	3	1	22	1	0	0	0	0	1	0	0	0	11832	797	28	2	556	2	PGBD5	1	230472895	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4204	230472895	18777726	1856	4002											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000391860.1_Intron|PGBD5_ENST00000525115.1_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													48	294					0	0	1	0	0	T	230503803	C	T	230503803	3	4	22	1	0	0	0	0	1	0	0	0	11832	812	28	2		2	PGBD5	1	230503803	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30908	230503803	18746818	1857	4003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000494371.1_3'UTR|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													116	379					0	0	1	0	0	T	230805179	C	T	230805179	2	4	22	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	1858	4004											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000494371.1_3'UTR|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													11	241					0	0	1	0	0	T	230805251	C	T	230805251	2	4	22	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	1859	4005											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000546013.1_Silent_p.R116R|COG2_ENST00000535166.1_Silent_p.R311R|COG2_ENST00000366668.3_Silent_p.R427R			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													122	625					0	0	1	0	0	A	230820883	G	A	230820883	2	1	22	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	1860	4006											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	388					9.16793e-09	9.60025e-09	1	1	0	T	230846565	G	T	230846565	3	4	22	1	0	0	0	0	1	0	0	0	396	971	34	2	1441	2	AGT	1	230846565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25682	230846565	18404056	1861	4007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	169					0	0	1	0	0	A	231339671	G	A	231339671	2	1	22	1	0	0	0	0	0	0	0	1	16601	1074	38	1		1	TRIM67	1	231339671	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	493106	231339671	17910950	1862	4008											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.D151Y|DISC1_ENST00000537876.1_Missense_Mutation_p.D151Y|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000602281.1_Missense_Mutation_p.D151Y|DISC1_ENST00000539444.1_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	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													25	261					4.72057e-08	4.92026e-08	1	1	0	T	231829955	G	T	231829955	3	4	22	1	0	0	0	0	1	0	0	0	4566	1174	41	2	457	2	DISC1	1	231829955	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	490284	231829955	17420666	1863	4009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000308942.4_Missense_Mutation_p.A759V|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1703V			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													77	213					0	0	1	0	0	A	232534934	G	A	232534934	3	1	22	1	0	0	0	0	1	0	0	0	14385	1087	38	1	64	1	SIPA1L2	1	232534934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	704979	232534934	16715687	1864	4010											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000308942.4_Missense_Mutation_p.L85I|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.L1011I			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													11	349					6.40141e-05	6.5221e-05	1	1	0	T	232596697	G	T	232596697	3	4	22	1	0	0	0	0	1	0	0	0	14385	971	34	2	2193	2	SIPA1L2	1	232596697	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61763	232596697	16653924	1865	4011											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	343					0	0	1	0	0	T	232650124	C	T	232650124	3	4	22	1	0	0	0	0	1	0	0	0	14385	768	27	1	4290	1	SIPA1L2	1	232650124	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53427	232650124	16600497	1866	4012											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	306					0	0	1	0	0	T	232650199	C	T	232650199	3	4	22	1	0	0	0	0	1	0	0	0	14385	884	31	1	4365	1	SIPA1L2	1	232650199	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75	232650199	16600422	1867	4013											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233122221G>A	ENST00000258229.8	-	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)	1953	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													13	66					0	0	1	0	0	A	233122221	G	A	233122221	2	1	22	1	0	0	0	0	0	0	0	1	11639	962	34	2		2	PCNXL2	1	233122221	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	472022	233122221	16128400	1868	4014											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233134991G>A	ENST00000258229.8	-	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)	1821						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													30	93					0	0	1	0	0	A	233134991	G	A	233134991	2	1	22	1	0	0	0	0	0	0	0	1	11639	1079	38	1		1	PCNXL2	1	233134991	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12770	233134991	16115630	1869	4015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233136143G>A	ENST00000258229.8	-	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)	1746						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													12	562					0	0	1	0	0	A	233136143	G	A	233136143	2	1	22	1	0	0	0	0	0	0	0	1	11639	962	34	2		2	PCNXL2	1	233136143	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1152	233136143	16114478	1870	4016											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233136192G>A	ENST00000258229.8	-	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)	1729						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													52	273					0	0	1	0	0	A	233136192	G	A	233136192	2	1	22	1	0	0	0	0	0	0	0	1	11639	1136	40	1		1	PCNXL2	1	233136192	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49	233136192	16114429	1871	4017											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233192981G>A	ENST00000258229.8	-	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)	1378						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													15	53					0	0	1	0	0	A	233192981	G	A	233192981	3	1	22	1	0	0	0	0	1	0	0	0	11639	1174	41	2	2325	2	PCNXL2	1	233192981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56789	233192981	16057640	1872	4018											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233344327C>T	ENST00000258229.8	-	13	3034	c.2800G>A	c.(2800-2802)Gtt>Att	p.V934I	PCNXL2_ENST00000430153.1_Missense_Mutation_p.V233I|PCNXL2_ENST00000488780.2_Missense_Mutation_p.V67I	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	934						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													23	263					0	0	1	0	0	T	233344327	C	T	233344327	3	4	22	1	0	0	0	0	1	0	0	0	11639	536	19	1	3701	1	PCNXL2	1	233344327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	151346	233344327	15906294	1873	4019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.V66I	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													142	338					0	0	1	0	0	A	233802529	G	A	233802529	3	1	22	1	0	0	0	0	1	0	0	0	8102	1145	40	1	550	1	KCNK1	1	233802529	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	458202	233802529	15448092	1874	4020											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.A84T	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													96	541					0	0	1	0	0	A	233802583	G	A	233802583	3	1	22	1	0	0	0	0	1	0	0	0	8102	1203	42	2	604	2	KCNK1	1	233802583	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54	233802583	15448038	1875	4021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	364					2.97704e-61	3.74727e-61	1	1	0	T	234041356	G	T	234041356	2	4	22	1	0	0	0	0	0	0	0	1	14645	1335	47	2		2	SLC35F3	1	234041356	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	238773	234041356	15209265	1876	4022											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	279					0	0	1	0	0	T	234529405	C	T	234529405	2	4	22	1	0	0	0	0	0	0	0	1	15612	871	31	1		1	TARBP1	1	234529405	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	488049	234529405	14721216	1877	4023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	210					0	0	1	0	0	T	234586199	C	T	234586199	2	4	22	1	0	0	0	0	0	0	0	1	15612	564	20	2		2	TARBP1	1	234586199	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56794	234586199	14664422	1878	4024											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	152					0	0	1	0	0	G	234603362	A	G	234603362	2	3	22	1	0	0	0	0	0	0	0	1	15612	389	14	3		3	TARBP1	1	234603362	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17163	234603362	14647259	1879	4025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	IRF2BP2_ENST00000491430.1_5'UTR|RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Silent_p.S521S	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													155	506					0	0	1	0	0	A	234743036	G	A	234743036	2	1	22	1	0	0	0	0	0	0	0	1	7874	1310	46	2		2	IRF2BP2	1	234743036	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139674	234743036	14507585	1880	4026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	IRF2BP2_ENST00000491430.1_5'UTR|RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Missense_Mutation_p.R437M	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													172	950					3.78446e-69	4.80127e-69	1	1	0	A	234743289	C	A	234743289	3	1	22	1	0	0	0	0	1	0	0	0	7874	681	24	2	409	2	IRF2BP2	1	234743289	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	253	234743289	14507332	1881	4027											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234744193C>T	ENST00000366609.3	-	1	1078	c.1048_splice	c.e1+1	p.V350_splice	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													9	71					0	0	1	0	0	T	234744193	C	T	234744193	5	4	22	1	0	0	0	0	0	0	1	0	7874	695	24	2	723	2	IRF2BP2	1	234744193	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	904	234744193	14506428	1882	4028											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													210	567					0	0	1	0	0	G	235345456	A	G	235345456	2	3	22	1	0	0	0	0	0	0	0	1	917	214	8	3		3	ARID4B	1	235345456	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	601263	235345456	13905165	1883	4029											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	173					0	0	1	0	0	G	235359344	A	G	235359344	5	3	22	1	0	0	0	0	0	0	1	0	917	405	14	3	2038	3	ARID4B	1	235359344	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13888	235359344	13891277	1884	4030											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	189					0	0	1	0	0	A	235359427	G	A	235359427	2	1	22	1	0	0	0	0	0	0	0	1	917	1140	40	1		1	ARID4B	1	235359427	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83	235359427	13891194	1885	4031											
ARID4B	51742	broad.mit.edu	37	chr1	235377308	235377308	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcttctgcttcttcAtcatcttcatcttcttcttt	1	15	10	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235377308A>G	ENST00000264183.3	-	17	2114	c.1617T>C	c.(1615-1617)gaT>gaC	p.D539D	ARID4B_ENST00000349213.3_Intron|ARID4B_ENST00000366603.2_Silent_p.D539D	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	539	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)			ctgcttcttcatcatcttcat	0.383													11	357					0	0	1	0	0	G	235377308	A	G	235377308	2	3	22	1	0	0	0	0	0	0	0	1	917	214	8	3		3	ARID4B	1	235377308	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17881	235377308	13873313	1886	4032											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	356					0	0	1	0	0	T	235617568	C	T	235617568	3	4	22	1	0	0	0	0	1	0	0	0	1244	797	28	2	303	2	B3GALNT2	1	235617568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	240260	235617568	13633053	1887	4033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000478199.1_5'UTR|B3GALNT2_ENST00000313984.3_Nonsense_Mutation_p.R184*	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													244	741					0	0	1	0	0	A	235647766	G	A	235647766	4	1	22	1	0	0	0	0	0	1	0	0	1244	1066	37	1	1111	1	B3GALNT2	1	235647766	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30198	235647766	13602855	1888	4034											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.R3780W			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													161	506					0	0	1	0	0	A	235826308	G	A	235826308	3	1	22	1	0	0	0	0	1	0	0	0	9174	1057	37	1	71	1	LYST	1	235826308	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178542	235826308	13424313	1889	4035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	318					0	0	1	0	0	T	235909723	C	T	235909723	3	4	22	1	0	0	0	0	1	0	0	0	9174	922	32	2	3620	2	LYST	1	235909723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83415	235909723	13340898	1890	4036											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389793.2_Missense_Mutation_p.E1533K|LYST_ENST00000536965.1_3'UTR			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													58	159					0	0	1	0	0	T	235952092	C	T	235952092	3	4	22	1	0	0	0	0	1	0	0	0	9174	922	32	2	6972	2	LYST	1	235952092	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42369	235952092	13298529	1891	4037											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389793.2_Silent_p.D1386D|LYST_ENST00000536965.1_Intron			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													71	335					0	0	1	0	0	G	235955384	A	G	235955384	2	3	22	1	0	0	0	0	0	0	0	1	9174	446	16	3		3	LYST	1	235955384	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3292	235955384	13295237	1892	4038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389793.2_Missense_Mutation_p.E1259K|LYST_ENST00000536965.1_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													67	387					0	0	1	0	0	T	235964335	C	T	235964335	3	4	22	1	0	0	0	0	1	0	0	0	9174	893	31	1	7810	1	LYST	1	235964335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8951	235964335	13286286	1893	4039											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389793.2_Missense_Mutation_p.E829D|LYST_ENST00000536965.1_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													239	839					5.63013e-107	7.24577e-107	1	1	0	A	235969949	C	A	235969949	3	1	22	1	0	0	0	0	1	0	0	0	9174	796	28	2	9110	2	LYST	1	235969949	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5614	235969949	13280672	1894	4040											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389793.2_Missense_Mutation_p.E805K|LYST_ENST00000536965.1_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													39	371					0	0	1	0	0	T	235970023	C	T	235970023	3	4	22	1	0	0	0	0	1	0	0	0	9174	893	31	1	9184	1	LYST	1	235970023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74	235970023	13280598	1895	4041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389793.2_Missense_Mutation_p.I677V|LYST_ENST00000536965.1_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													64	289					0	0	1	0	0	C	235972089	T	C	235972089	3	2	22	1	0	0	0	0	1	0	0	0	9174	1435	50	3	9572	3	LYST	1	235972089	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2066	235972089	13278532	1896	4042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389793.2_Missense_Mutation_p.F328C|LYST_ENST00000536965.1_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													64	154					0	0	1	0	0	C	235973135	A	C	235973135	3	2	22	1	0	0	0	0	1	0	0	0	9174	14	1	3	10618	3	LYST	1	235973135	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1046	235973135	13277486	1897	4043											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	331					0	0	1	0	0	A	236141260	G	A	236141260	2	1	22	1	0	0	0	0	0	0	0	1	10461	1074	38	1		1	NID1	1	236141260	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168125	236141260	13109361	1898	4044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	125					0	0	1	0	0	A	236157030	G	A	236157030	2	1	22	1	0	0	0	0	0	0	0	1	10461	1136	40	1		1	NID1	1	236157030	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15770	236157030	13093591	1899	4045											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	192					0	0	1	0	0	A	236157147	G	A	236157147	2	1	22	1	0	0	0	0	0	0	0	1	10461	1136	40	1		1	NID1	1	236157147	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117	236157147	13093474	1900	4046											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													222	662					3.02832e-84	3.87969e-84	1	1	0	A	236205427	C	A	236205427	3	1	22	1	0	0	0	0	1	0	0	0	10461	680	24	2	2893	2	NID1	1	236205427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48280	236205427	13045194	1901	4047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	218					0	0	1	0	0	A	236212087	G	A	236212087	3	1	22	1	0	0	0	0	1	0	0	0	10461	1116	39	1	3391	1	NID1	1	236212087	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6660	236212087	13038534	1902	4048											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	414					0	0	1	0	0	A	236212173	G	A	236212173	2	1	22	1	0	0	0	0	0	0	0	1	10461	1103	39	1		1	NID1	1	236212173	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86	236212173	13038448	1903	4049											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													193	622					0	0	1	0	0	A	236343188	G	A	236343188	3	1	22	1	0	0	0	0	1	0	0	0	6686	1145	40	1	711	1	GPR137B	1	236343188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131015	236343188	12907433	1904	4050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	277					1.9806e-07	2.05782e-07	1	1	0	A	236347193	C	A	236347193	3	1	22	1	0	0	0	0	1	0	0	0	6686	681	24	2	971	2	GPR137B	1	236347193	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4005	236347193	12903428	1905	4051											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	262					0	0	1	0	0	T	236389686	C	T	236389686	3	4	22	1	0	0	0	0	1	0	0	0	5268	884	31	1	488	1	ERO1LB	1	236389686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42493	236389686	12860935	1906	4052											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	270					0	0	1	0	0	T	236399130	C	T	236399130	3	4	22	1	0	0	0	0	1	0	0	0	5268	884	31	1	807	1	ERO1LB	1	236399130	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9444	236399130	12851491	1907	4053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	249					0	0	1	0	0	T	236415367	C	T	236415367	3	4	22	1	0	0	0	0	1	0	0	0	5268	797	28	2	1124	2	ERO1LB	1	236415367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16237	236415367	12835254	1908	4054											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	LGALS8_ENST00000416919.2_Missense_Mutation_p.S147L|LGALS8_ENST00000525042.1_Missense_Mutation_p.S147L|LGALS8_ENST00000450372.2_Missense_Mutation_p.S206L|LGALS8_ENST00000323938.6_Intron|LGALS8_ENST00000527974.1_Missense_Mutation_p.S206L|LGALS8_ENST00000352231.2_Missense_Mutation_p.S206L|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000341872.6_Intron|LGALS8_ENST00000366584.4_Intron|LGALS8_ENST00000526634.1_Intron			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													96	331					0	0	1	0	0	T	236706282	C	T	236706282	3	4	22	1	0	0	0	0	1	0	0	0	8787	893	31	1	643	1	LGALS8	1	236706282	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	290915	236706282	12544339	1909	4055											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	HEATR1_ENST00000366581.2_Missense_Mutation_p.A2030T|LGALS8_ENST00000526589.1_3'UTR	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													11	634					0	0	1	0	0	T	236715314	C	T	236715314	3	4	22	1	0	0	0	0	1	0	0	0	7068	797	28	2	111	2	HEATR1	1	236715314	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9032	236715314	12535307	1910	4056											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	486					0	0	1	0	0	G	236740213	A	G	236740213	3	3	22	1	0	0	0	0	1	0	0	0	7068	391	14	3	3742	3	HEATR1	1	236740213	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24899	236740213	12510408	1911	4057											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													214	538					0	0	1	0	0	C	236744595	A	C	236744595	2	2	22	1	0	0	0	0	0	0	0	1	7068	1	1	3		3	HEATR1	1	236744595	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4382	236744595	12506026	1912	4058											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	410					0	0	1	0	0	A	236748389	G	A	236748389	3	1	22	1	0	0	0	0	1	0	0	0	7068	1087	38	1	4373	1	HEATR1	1	236748389	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3794	236748389	12502232	1913	4059											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	221					2.66277e-13	2.87267e-13	1	1	0	T	236749565	G	T	236749565	3	4	22	1	0	0	0	0	1	0	0	0	7068	1232	43	2	4655	2	HEATR1	1	236749565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1176	236749565	12501056	1914	4060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	46					2.80697e-09	2.95087e-09	1	1	0	T	236755883	G	T	236755883	3	4	22	1	0	0	0	0	1	0	0	0	7068	942	33	2	5334	2	HEATR1	1	236755883	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6318	236755883	12494738	1915	4061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	141					2.40579e-17	2.65515e-17	1	1	0	A	236850067	C	A	236850067	3	1	22	1	0	0	0	0	1	0	0	0	205	680	24	2	96	2	ACTN2	1	236850067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94184	236850067	12400554	1916	4062	28	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	151					0	0	1	0	0	A	236850076	G	A	236850076	3	1	22	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	1917	4063	28	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	326					0	0	1	0	0	A	236902766	G	A	236902766	2	1	22	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	1918	4064											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	269					0	0	1	0	0	T	236902782	C	T	236902782	3	4	22	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	1919	4065											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	270					0	0	1	0	0	A	236914912	G	A	236914912	3	1	22	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	1920	4066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	314					0	0	1	0	0	G	237013811	A	G	237013811	2	3	22	1	0	0	0	0	0	0	0	1	10006	117	5	3		3	MTR	1	237013811	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	98899	237013811	12236810	1921	4067											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													184	603					0	0	1	0	0	T	237054561	C	T	237054561	2	4	22	1	0	0	0	0	0	0	0	1	10006	680	24	2		2	MTR	1	237054561	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40750	237054561	12196060	1922	4068											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	253					0	0	1	0	0	G	237057675	A	G	237057675	3	3	22	1	0	0	0	0	1	0	0	0	10006	188	7	3	3341	3	MTR	1	237057675	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3114	237057675	12192946	1923	4069											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	218					3.21569e-47	3.95668e-47	1	1	0	A	237729908	C	A	237729908	2	1	22	1	0	0	0	0	0	0	0	1	13821	644	23	4		4	RYR2	1	237729908	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	672233	237729908	11520713	1924	4070											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													180	454					2.27171e-66	2.87454e-66	1	1	0	A	237754106	C	A	237754106	3	1	22	1	0	0	0	0	1	0	0	0	13821	797	28	2	4096	2	RYR2	1	237754106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24198	237754106	11496515	1925	4071											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	164					0	0	1	0	0	T	237777341	C	T	237777341	3	4	22	1	0	0	0	0	1	0	0	0	13821	913	32	2	5059	2	RYR2	1	237777341	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23235	237777341	11473280	1926	4072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	247					0	0	1	0	0	T	237780719	C	T	237780719	3	4	22	1	0	0	0	0	1	0	0	0	13821	739	26	2	5999	2	RYR2	1	237780719	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3378	237780719	11469902	1927	4073											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													183	654					6.86035e-81	8.77565e-81	1	1	0	A	237796907	C	A	237796907	3	1	22	1	0	0	0	0	1	0	0	0	13821	564	20	2	6755	2	RYR2	1	237796907	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16188	237796907	11453714	1928	4074											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													142	697					0	0	1	0	0	T	237801716	C	T	237801716	2	4	22	1	0	0	0	0	0	0	0	1	13821	784	28	2		2	RYR2	1	237801716	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4809	237801716	11448905	1929	4075											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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													112	337					4.05343e-56	5.07097e-56	1	1	0	T	237886522	G	T	237886522	3	4	22	1	0	0	0	0	1	0	0	0	13821	942	33	2	10943	2	RYR2	1	237886522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84806	237886522	11364099	1930	4076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RYR2_ENST00000462585.1_3'UTR	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													144	460					1.72791e-69	2.19293e-69	1	1	0	T	237993907	G	T	237993907	3	4	22	1	0	0	0	0	1	0	0	0	13821	991	35	2	15143	2	RYR2	1	237993907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107385	237993907	11256714	1931	4077											
ZP4	57829	broad.mit.edu	37	chr1	238050750	238050750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccatcacagggttacacGcactgtcattcctaagggcc	9	13	2	0	rs140243550	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:238050750G>A	ENST00000366570.4	-	5	823	c.665C>T	c.(664-666)gCg>gTg	p.A222V	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	222	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	p.A222V(1)|p.A222G(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)			AGGGTTACACGCACTGTCATT	0.517													130	367					0	0	1	0	0	A	238050750	G	A	238050750	3	1	22	1	0	0	0	0	1	0	0	0	18260	1087	38	1	989	1	ZP4	1	238050750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56843	238050750	11199871	1932	4078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	196					0	0	1	0	0	A	238053923	G	A	238053923	3	1	22	1	0	0	0	0	1	0	0	0	18260	1086	38	1	1657	1	ZP4	1	238053923	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3173	238053923	11196698	1933	4079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	404					0	0	1	0	0	T	240070910	C	T	240070910	2	4	22	1	0	0	0	0	0	0	0	1	3400	535	19	1		1	CHRM3	1	240070910	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2016987	240070910	9179711	1934	4080	29	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	375					0	0	1	0	0	T	240070919	C	T	240070919	2	4	22	1	0	0	0	0	0	0	0	1	3400	639	23	1		1	CHRM3	1	240070919	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9	240070919	9179702	1935	4081	29	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	279					0	0	1	0	0	G	240072469	A	G	240072469	3	3	22	1	0	0	0	0	1	0	0	0	3400	391	14	3	1720	3	CHRM3	1	240072469	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1550	240072469	9178152	1936	4082											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	321					0	0	1	0	0	A	240255963	G	A	240255963	3	1	22	1	0	0	0	0	1	0	0	0	5983	971	34	2	556	2	FMN2	1	240255963	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183494	240255963	8994658	1937	4083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	144					0	0	1	0	0	C	240256573	A	C	240256573	2	2	22	1	0	0	0	0	0	0	0	1	5983	262	10	3		3	FMN2	1	240256573	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	610	240256573	8994048	1938	4084											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	400					0	0	1	0	0	A	240256734	G	A	240256734	3	1	22	1	0	0	0	0	1	0	0	0	5983	1000	35	2	1327	2	FMN2	1	240256734	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	240256734	8993887	1939	4085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	190					0	0	1	0	0	T	240370368	C	T	240370368	2	4	22	1	0	0	0	0	0	0	0	1	5983	755	27	1		1	FMN2	1	240370368	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113634	240370368	8880253	1940	4086											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	366					0	0	1	0	0	T	240656545	C	T	240656545	2	4	22	1	0	0	0	0	0	0	0	1	6803	755	27	1		1	GREM2	1	240656545	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286177	240656545	8594076	1941	4087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366564.1_Missense_Mutation_p.S403R|RGS7_ENST00000331110.7_Missense_Mutation_p.S377R|RGS7_ENST00000366562.4_Missense_Mutation_p.S403R|RGS7_ENST00000446183.2_Missense_Mutation_p.S319R|RGS7_ENST00000366563.1_Missense_Mutation_p.S403R|RGS7_ENST00000407727.1_Missense_Mutation_p.S403R|RGS7_ENST00000401882.1_Missense_Mutation_p.S350R	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													125	386					0	0	1	0	0	C	240969500	A	C	240969500	3	2	22	1	0	0	0	0	1	0	0	0	13360	40	2	3	270	3	RGS7	1	240969500	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	312955	240969500	8281121	1942	4088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366564.1_Missense_Mutation_p.A195S|RGS7_ENST00000331110.7_Missense_Mutation_p.A169S|RGS7_ENST00000366562.4_Missense_Mutation_p.A195S|RGS7_ENST00000446183.2_Missense_Mutation_p.A111S|RGS7_ENST00000366563.1_Missense_Mutation_p.A195S|RGS7_ENST00000407727.1_Missense_Mutation_p.A195S|RGS7_ENST00000401882.1_Missense_Mutation_p.A142S	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													69	395					2.6465e-34	3.14731e-34	1	1	0	A	241031913	C	A	241031913	3	1	22	1	0	0	0	0	1	0	0	0	13360	797	28	2	920	2	RGS7	1	241031913	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62413	241031913	8218708	1943	4089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				158	452					0	0	1	0	0	C	241676958	T	C	241676958	3	2	22	1	0	0	0	0	1	0	0	0	5908	1580	55	3	1241	3	FH	1	241676958	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	645045	241676958	7573663	1944	4090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	364					0	0	1	0	0	C	241729796	A	C	241729796	3	2	22	1	0	0	0	0	1	0	0	0	8467	98	4	3	727	3	KMO	1	241729796	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52838	241729796	7520825	1945	4091											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|KMO_ENST00000366557.4_3'UTR|OPN3_ENST00000331838.5_Missense_Mutation_p.A262D|OPN3_ENST00000469376.1_5'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													141	588					1.85997e-60	2.33967e-60	1	1	0	T	241757917	G	T	241757917	3	4	22	1	0	0	0	0	1	0	0	0	10929	971	34	2	190	2	OPN3	1	241757917	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28121	241757917	7492704	1946	4092											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)	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													62	323					0	0	1	0	0	T	241797861	C	T	241797861	3	4	22	1	0	0	0	0	1	0	0	0	3373	536	19	1	766	1	CHML	1	241797861	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39944	241797861	7452760	1947	4093											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)	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													141	374					1.12488e-73	1.43224e-73	1	1	0	A	241798002	C	A	241798002	3	1	22	1	0	0	0	0	1	0	0	0	3373	507	18	2	907	2	CHML	1	241798002	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141	241798002	7452619	1948	4094											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)	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													34	1366					0	0	1	0	0	C	241798700	A	C	241798700	2	2	22	1	0	0	0	0	0	0	0	1	3373	59	3	3		3	CHML	1	241798700	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	698	241798700	7451921	1949	4095											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	227					0	0	1	0	0	G	241959584	T	G	241959584	3	3	22	1	0	0	0	0	1	0	0	0	17375	1841	64	3	3176	3	WDR64	1	241959584	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	160884	241959584	7291037	1950	4096											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	213					0	0	1	0	0	A	241959665	G	A	241959665	3	1	22	1	0	0	0	0	1	0	0	0	17375	1145	40	1	3257	1	WDR64	1	241959665	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81	241959665	7290956	1951	4097											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518483.1_Missense_Mutation_p.A322T|EXO1_ENST00000348581.5_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					25	148					0	0	1	0	0	A	242024727	G	A	242024727	3	1	22	1	0	0	0	0	1	0	0	0	5327	971	34	2	990	2	EXO1	1	242024727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65062	242024727	7225894	1952	4098											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518483.1_Missense_Mutation_p.S355N|EXO1_ENST00000348581.5_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					113	339					0	0	1	0	0	A	242030154	G	A	242030154	3	1	22	1	0	0	0	0	1	0	0	0	5327	1029	36	2	1094	2	EXO1	1	242030154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5427	242030154	7220467	1953	4099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518483.1_3'UTR|EXO1_ENST00000348581.5_Missense_Mutation_p.A827V	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					15	600					0	0	1	0	0	T	242052841	C	T	242052841	3	4	22	1	0	0	0	0	1	0	0	0	5327	768	27	1	2530	1	EXO1	1	242052841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22687	242052841	7197780	1954	4100											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	341					0	0	1	0	0	T	242159659	C	T	242159659	3	4	22	1	0	0	0	0	1	0	0	0	9283	797	28	2	197	2	MAP1LC3C	1	242159659	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106818	242159659	7090962	1955	4101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242253373G>T	ENST00000442594.2	-	11	1627	c.1118C>A	c.(1117-1119)gCt>gAt	p.A373D	PLD5_ENST00000427495.1_Missense_Mutation_p.A403D|PLD5_ENST00000536534.1_Missense_Mutation_p.A465D	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	465						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													150	553					3.62976e-74	4.6241e-74	1	1	0	T	242253373	G	T	242253373	3	4	22	1	0	0	0	0	1	0	0	0	12097	971	34	2	220	2	PLD5	1	242253373	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93714	242253373	6997248	1956	4102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242428680A>G	ENST00000442594.2	-	5	799	c.290T>C	c.(289-291)gTa>gCa	p.V97A	PLD5_ENST00000427495.1_Missense_Mutation_p.V127A|PLD5_ENST00000536534.1_Missense_Mutation_p.V189A|PLD5_ENST00000474177.1_5'UTR	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	189						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													29	186					0	0	1	0	0	G	242428680	A	G	242428680	3	3	22	1	0	0	0	0	1	0	0	0	12097	391	14	3	1072	3	PLD5	1	242428680	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	175307	242428680	6821941	1957	4103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CEP170_ENST00000366544.1_Missense_Mutation_p.R897H|CEP170_ENST00000366543.1_Missense_Mutation_p.R897H|RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA	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													28	387					0	0	1	0	0	T	243328278	C	T	243328278	3	4	22	1	0	0	0	0	1	0	0	0	3272	536	19	1	1832	1	CEP170	1	243328278	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	899598	243328278	5922343	1958	4104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343783.6_Intron|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.K87T	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													84	268					0	0	1	0	0	C	243434319	A	C	243434319	3	2	22	1	0	0	0	0	1	0	0	0	14013	72	3	3	270	3	SDCCAG8	1	243434319	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	106041	243434319	5816302	1959	4105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000496361.1_3'UTR|SDCCAG8_ENST00000343783.6_Silent_p.L83L|SDCCAG8_ENST00000391846.1_Silent_p.L228L	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													36	172					0	0	1	0	0	T	243468021	C	T	243468021	2	4	22	1	0	0	0	0	0	0	0	1	14013	796	28	2		2	SDCCAG8	1	243468021	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33702	243468021	5782600	1960	4106											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343783.6_Silent_p.S176S|SDCCAG8_ENST00000391846.1_Silent_p.S321S	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													51	273					0	0	1	0	0	T	243480090	C	T	243480090	2	4	22	1	0	0	0	0	0	0	0	1	14013	639	23	1		1	SDCCAG8	1	243480090	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12069	243480090	5770531	1961	4107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	407					2.3441e-25	2.68925e-25	1	1	0	A	244006483	C	A	244006483	1	1	22	1	0	0	0	0	0	0	0	0	478	696	24	2		2	AKT3	1	244006483	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	526393	244006483	5244138	1962	4108											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	174					0	0	1	0	0	A	244579342	G	A	244579342	3	1	22	1	0	0	0	0	1	0	0	0	346	1145	40	1	273	1	ADSS	1	244579342	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	572859	244579342	4671279	1963	4109											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.S495N|C1orf101_ENST00000366531.3_Missense_Mutation_p.S344N	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													115	344					0	0	1	0	0	A	244724424	G	A	244724424	3	1	22	1	0	0	0	0	1	0	0	0	1989	971	34	2	1522	2	C1orf101	1	244724424	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145082	244724424	4526197	1964	4110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	163					0	0	1	0	0	T	245027598	C	T	245027598	2	4	22	1	0	0	0	0	0	0	0	1	7314	755	27	1		1	HNRNPU	1	245027598	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	303174	245027598	4223023	1965	4111											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	64					0	0	1	0	0	A	245530451	G	A	245530451	3	1	22	1	0	0	0	0	1	0	0	0	8337	1087	38	1	791	1	KIF26B	1	245530451	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	502853	245530451	3720170	1966	4112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	51					0	0	1	0	0	C	245530471	A	C	245530471	3	2	22	1	0	0	0	0	1	0	0	0	8337	40	2	3	811	3	KIF26B	1	245530471	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20	245530471	3720150	1967	4113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	182					4.34311e-12	4.6502e-12	1	1	0	T	245849462	G	T	245849462	3	4	22	1	0	0	0	0	1	0	0	0	8337	962	34	2	3223	2	KIF26B	1	245849462	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	318991	245849462	3401159	1968	4114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	465					0	0	1	0	0	A	245849753	G	A	245849753	2	1	22	1	0	0	0	0	0	0	0	1	8337	962	34	2		2	KIF26B	1	245849753	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	291	245849753	3400868	1969	4115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	104					0	0	1	0	0	A	245850027	G	A	245850027	3	1	22	1	0	0	0	0	1	0	0	0	8337	1145	40	1	3788	1	KIF26B	1	245850027	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	274	245850027	3400594	1970	4116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	111					0	0	1	0	0	T	245850356	C	T	245850356	2	4	22	1	0	0	0	0	0	0	0	1	8337	816	29	2		2	KIF26B	1	245850356	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	329	245850356	3400265	1971	4117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	43					2.61681e-11	2.78987e-11	1	1	0	A	245850742	C	A	245850742	3	1	22	1	0	0	0	0	1	0	0	0	8337	652	23	4	4503	4	KIF26B	1	245850742	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	386	245850742	3399879	1972	4118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	135					0	0	1	0	0	T	245851582	C	T	245851582	3	4	22	1	0	0	0	0	1	0	0	0	8337	768	27	1	5343	1	KIF26B	1	245851582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	840	245851582	3399039	1973	4119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:246707824G>A	ENST00000366514.4	-	7	1203	c.1019_splice	c.e7+1	p.R340_splice		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													53	347					0	0	1	0	0	A	246707824	G	A	246707824	5	1	22	1	0	0	0	0	0	0	1	0	15854	1159	40	1	180	1	TFB2M	1	246707824	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	856242	246707824	2542797	1974	4120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	983					4.65686e-17	5.13078e-17	1	1	0	T	246922335	G	T	246922335	5	4	22	1	0	0	0	0	0	0	1	0	13938	1014	35	2	721	2	SCCPDH	1	246922335	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214511	246922335	2328286	1975	4121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R2068C|AHCTF1_ENST00000391829.2_Missense_Mutation_p.R2059C			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													23	566					0	0	1	0	0	A	247013133	G	A	247013133	3	1	22	1	0	0	0	0	1	0	0	0	405	1145	40	1	641	1	AHCTF1	1	247013133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90798	247013133	2237488	1976	4122											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.T2061A|AHCTF1_ENST00000391829.2_Missense_Mutation_p.T2052A			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													9	565					0	0	1	0	0	C	247013154	T	C	247013154	3	2	22	1	0	0	0	0	1	0	0	0	405	1667	58	3	662	3	AHCTF1	1	247013154	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21	247013154	2237467	1977	4123											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.I1896S|AHCTF1_ENST00000391829.2_Missense_Mutation_p.I1887S			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													107	259					0	0	1	0	0	C	247013648	A	C	247013648	3	2	22	1	0	0	0	0	1	0	0	0	405	101	4	3	1156	3	AHCTF1	1	247013648	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	494	247013648	2236973	1978	4124											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.P1707P|AHCTF1_ENST00000391829.2_Silent_p.P1698P			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													15	456					0	0	1	0	0	C	247014214	A	C	247014214	2	2	22	1	0	0	0	0	0	0	0	1	405	59	3	3		3	AHCTF1	1	247014214	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	566	247014214	2236407	1979	4125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.A976A|AHCTF1_ENST00000391829.2_Silent_p.A967A			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													76	300					3.4779e-39	4.20191e-39	1	1	0	T	247040288	G	T	247040288	2	4	22	1	0	0	0	0	0	0	0	1	405	987	35	2		2	AHCTF1	1	247040288	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26074	247040288	2210333	1980	4126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.R744*|AHCTF1_ENST00000391829.2_Nonsense_Mutation_p.R735*			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													11	349					0	0	1	0	0	A	247051761	G	A	247051761	4	1	22	1	0	0	0	0	0	1	0	0	405	1095	38	1	4673	1	AHCTF1	1	247051761	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11473	247051761	2198860	1981	4127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000326225.3_Missense_Mutation_p.E40D|AHCTF1_ENST00000391829.2_Missense_Mutation_p.E31D			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													29	245					0	0	1	0	0	A	247081580	T	A	247081580	3	1	22	1	0	0	0	0	1	0	0	0	405	1490	52	5	6847	5	AHCTF1	1	247081580	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29819	247081580	2169041	1982	4128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000487338.2_Missense_Mutation_p.R26W|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127.4	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													106	298					0	0	1	0	0	A	247163304	G	A	247163304	3	1	22	1	0	0	0	0	1	0	0	0	18154	1086	38	1	1483	1	ZNF695	1	247163304	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81724	247163304	2087317	1983	4129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_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													13	325					4.36969e-10	4.6211e-10	1	1	0	T	247319927	G	T	247319927	3	4	22	1	0	0	0	0	1	0	0	0	17778	1000	35	2	62	2	ZNF124	1	247319927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156623	247319927	1930694	1984	4130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491356.1_Intron|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000472531.1_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													80	189					0	0	1	0	0	G	247320502	T	G	247320502	3	3	22	1	0	0	0	0	1	0	0	0	17778	1580	55	3	637	3	ZNF124	1	247320502	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	575	247320502	1930119	1985	4131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	205					0	0	1	0	0	T	247463849	C	T	247463849	3	4	22	1	0	0	0	0	1	0	0	0	18002	536	19	1	31	1	ZNF496	1	247463849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143347	247463849	1786772	1986	4132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	320					0	0	1	0	0	A	247463872	G	A	247463872	2	1	22	1	0	0	0	0	0	0	0	1	18002	1136	40	1		1	ZNF496	1	247463872	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	247463872	1786749	1987	4133											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													147	466					0	0	1	0	0	A	247463988	G	A	247463988	3	1	22	1	0	0	0	0	1	0	0	0	18002	1086	38	1	170	1	ZNF496	1	247463988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116	247463988	1786633	1988	4134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	424					0	0	1	0	0	A	247492622	G	A	247492622	2	1	22	1	0	0	0	0	0	0	0	1	18002	962	34	2		2	ZNF496	1	247492622	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28634	247492622	1757999	1989	4135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348069.2_Missense_Mutation_p.L17M|NLRP3_ENST00000366496.2_Missense_Mutation_p.L17M|NLRP3_ENST00000391828.3_Missense_Mutation_p.L17M|NLRP3_ENST00000336119.3_Missense_Mutation_p.L17M|NLRP3_ENST00000391827.2_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													44	219					1.48734e-19	1.65976e-19	1	1	0	A	247582145	C	A	247582145	3	1	22	1	0	0	0	0	1	0	0	0	10525	680	24	2	51	2	NLRP3	1	247582145	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89523	247582145	1668476	1990	4136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348069.2_Missense_Mutation_p.A464T|NLRP3_ENST00000366496.2_Missense_Mutation_p.A464T|NLRP3_ENST00000391828.3_Missense_Mutation_p.A464T|NLRP3_ENST00000336119.3_Missense_Mutation_p.A464T|NLRP3_ENST00000391827.2_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													18	222					0	0	1	0	0	A	247588135	G	A	247588135	3	1	22	1	0	0	0	0	1	0	0	0	10525	1087	38	1	1400	1	NLRP3	1	247588135	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5990	247588135	1662486	1991	4137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348069.2_Missense_Mutation_p.V576A|NLRP3_ENST00000366496.2_Missense_Mutation_p.V576A|NLRP3_ENST00000391828.3_Missense_Mutation_p.V576A|NLRP3_ENST00000336119.3_Missense_Mutation_p.V576A|NLRP3_ENST00000391827.2_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													77	216					0	0	1	0	0	C	247588472	T	C	247588472	3	2	22	1	0	0	0	0	1	0	0	0	10525	1725	60	3	1737	3	NLRP3	1	247588472	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	337	247588472	1662149	1992	4138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348069.2_Missense_Mutation_p.S739N|NLRP3_ENST00000366496.2_Missense_Mutation_p.S796N|NLRP3_ENST00000391828.3_Missense_Mutation_p.S796N|NLRP3_ENST00000336119.3_Missense_Mutation_p.S796N|NLRP3_ENST00000391827.2_Missense_Mutation_p.S739N	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													137	494					0	0	1	0	0	A	247597464	G	A	247597464	3	1	22	1	0	0	0	0	1	0	0	0	10525	971	34	2	2405	2	NLRP3	1	247597464	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8992	247597464	1653157	1993	4139											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348069.2_Missense_Mutation_p.P912H|NLRP3_ENST00000366496.2_Missense_Mutation_p.P969H|NLRP3_ENST00000391828.3_Missense_Mutation_p.P1026H|NLRP3_ENST00000336119.3_Missense_Mutation_p.P1026H|NLRP3_ENST00000391827.2_Missense_Mutation_p.P969H	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													15	398					4.7546e-09	4.99022e-09	1	1	0	A	247611772	C	A	247611772	3	1	22	1	0	0	0	0	1	0	0	0	10525	681	24	2	3111	2	NLRP3	1	247611772	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14308	247611772	1638849	1994	4140											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													412	1245					9.5377e-104	1.22715e-103	1	1	0	T	247614372	G	T	247614372	3	4	22	1	0	0	0	0	1	0	0	0	11036	933	33	2	43	2	OR2B11	1	247614372	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2600	247614372	1636249	1995	4141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													150	381					0	0	1	0	0	C	247654784	T	C	247654784	1	2	22	0	1	0	0	0	0	0	0	0	11082	1667	58	3		3	OR2W5	1	247654784	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	40412	247654784	1595837	1996	4142											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	429					5.97918e-35	7.12646e-35	1	1	0	T	247654924	G	T	247654924	1	4	22	0	1	0	0	0	0	0	0	0	11082	962	34	2		2	OR2W5	1	247654924	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140	247654924	1595697	1997	4143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													204	585					0	0	1	0	0	A	247654999	G	A	247654999	1	1	22	0	1	0	0	0	0	0	0	0	11082	991	35	2		2	OR2W5	1	247654999	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75	247654999	1595622	1998	4144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													196	537					0	0	1	0	0	A	247655213	G	A	247655213	1	1	22	0	1	0	0	0	0	0	0	0	11082	971	34	2		2	OR2W5	1	247655213	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214	247655213	1595408	1999	4145											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340.3	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													27	161					0	0	1	0	0	A	247695426	G	A	247695426	3	1	22	1	0	0	0	0	1	0	0	0	11041	1203	42	2	578	2	OR2C3	1	247695426	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40213	247695426	1555195	2000	4146											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	289					0	0	1	0	0	C	247835608	T	C	247835608	3	2	22	1	0	0	0	0	1	0	0	0	10990	1667	58	3	191	3	OR13G1	1	247835608	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	140182	247835608	1415013	2001	4147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	282					1.38909e-20	1.55765e-20	1	1	0	T	247835702	G	T	247835702	2	4	22	1	0	0	0	0	0	0	0	1	10990	987	35	2		2	OR13G1	1	247835702	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94	247835702	1414919	2002	4148											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	258					0	0	1	0	0	T	247835916	C	T	247835916	3	4	22	1	0	0	0	0	1	0	0	0	10990	797	28	2	499	2	OR13G1	1	247835916	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	214	247835916	1414705	2003	4149											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	254					6.27289e-28	7.28045e-28	1	1	0	T	247836210	G	T	247836210	3	4	22	1	0	0	0	0	1	0	0	0	10990	1203	42	2	793	2	OR13G1	1	247836210	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294	247836210	1414411	2004	4150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	149					0	0	1	0	0	T	247921228	C	T	247921228	3	4	22	1	0	0	0	0	1	0	0	0	11000	478	17	2	465	2	OR1C1	1	247921228	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85018	247921228	1329393	2005	4151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	224					0	0	1	0	0	C	247978167	A	C	247978167	3	2	22	1	0	0	0	0	1	0	0	0	10993	11	1	3	68	3	OR14A16	1	247978167	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56939	247978167	1272454	2006	4152											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	223					0	0	1	0	0	C	247978191	T	C	247978191	3	2	22	1	0	0	0	0	1	0	0	0	10993	1725	60	3	92	3	OR14A16	1	247978191	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24	247978191	1272430	2007	4153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	395					0	0	1	0	0	A	248004781	G	A	248004781	3	1	22	1	0	0	0	0	1	0	0	0	10978	971	34	2	554	2	OR11L1	1	248004781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26590	248004781	1245840	2008	4154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	128					2.68985e-26	3.09749e-26	1	1	0	T	248004962	G	T	248004962	2	4	22	1	0	0	0	0	0	0	0	1	10978	1219	43	2		2	OR11L1	1	248004962	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181	248004962	1245659	2009	4155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	241					0	0	1	0	0	T	248005130	C	T	248005130	4	4	22	1	0	0	0	0	0	1	0	0	10978	740	26	2	903	2	OR11L1	1	248005130	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168	248005130	1245491	2010	4156											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248031265A>C	ENST00000366481.3	+	5	819	c.770_splice	c.e5-1	p.R257_splice		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													11	114					0	0	1	0	0	C	248031265	A	C	248031265	5	2	22	1	0	0	0	0	0	0	1	0	16592	260	9	3	789	3	TRIM58	1	248031265	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26135	248031265	1219356	2011	4157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	500					0	0	1	0	0	A	248059435	G	A	248059435	3	1	22	1	0	0	0	0	1	0	0	0	11081	1087	38	1	549	1	OR2W3	1	248059435	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28170	248059435	1191186	2012	4158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													223	747					8.35629e-93	1.07345e-92	1	1	0	A	248059536	C	A	248059536	2	1	22	1	0	0	0	0	0	0	0	1	11081	900	32	2		2	OR2W3	1	248059536	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101	248059536	1191085	2013	4159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	418					1.22879e-52	1.5289e-52	1	1	0	T	248084330	G	T	248084330	3	4	22	1	0	0	0	0	1	0	0	0	11078	1232	43	2	13	2	OR2T8	1	248084330	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24794	248084330	1166291	2014	4160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	224					0	0	1	0	0	T	248112729	C	T	248112729	2	4	22	1	0	0	0	0	0	0	0	1	11057	477	17	2		2	OR2L8	1	248112729	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28399	248112729	1137892	2015	4161											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	111					0	0	1	0	0	A	248112746	G	A	248112746	3	1	22	1	0	0	0	0	1	0	0	0	11057	1203	42	2	589	2	OR2L8	1	248112746	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	248112746	1137875	2016	4162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													346	1083					0	0	1	0	0	A	248129025	G	A	248129025	3	1	22	1	0	0	0	0	1	0	0	0	11034	1261	44	2	394	2	OR2AK2	1	248129025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16279	248129025	1121596	2017	4163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	403					0	0	1	0	0	G	248202496	A	G	248202496	2	3	22	1	0	0	0	0	0	0	0	1	11055	175	7	3		3	OR2L2	1	248202496	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	73471	248202496	1048125	2018	4164											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	334					0	0	1	0	0	T	248263566	C	T	248263566	2	4	22	1	0	0	0	0	0	0	0	1	11054	680	24	2		2	OR2L13	1	248263566	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61070	248263566	987055	2019	4165											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													318	1683					1.32765e-60	1.67014e-60	1	1	0	A	248308805	C	A	248308805	3	1	22	1	0	0	0	0	1	0	0	0	11061	913	32	2	358	2	OR2M5	1	248308805	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45239	248308805	941816	2020	4166											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													241	1529					7.79638e-53	9.70434e-53	1	1	0	A	248308961	C	A	248308961	3	1	22	1	0	0	0	0	1	0	0	0	11061	913	32	2	514	2	OR2M5	1	248308961	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	156	248308961	941660	2021	4167											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	1040					7.22619e-39	8.72213e-39	1	1	0	T	248436839	G	T	248436839	3	4	22	1	0	0	0	0	1	0	0	0	11072	971	34	2	687	2	OR2T33	1	248436839	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127878	248436839	813782	2022	4168											
OR2T33	391195	broad.mit.edu	37	chr1	248437112	248437112	+	Frame_Shift_Del	DEL	T	T	-													ctggggtagtatttctcatcTccataatttcccctggtgtg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248437112delT	ENST00000318021.2	-	1	26	c.5delA	c.(4-6)ggfs	p.E2fs		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	2					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)			ATTTCTCATCTCCATAATTTC	0.428													7	663	---	---	---	---						-	248437112	T	-	248437112	7	5	22	1	0	1	0	1	0	0	0	0	11072	1551	54	0	960	0	OR2T33	1	248437112	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	273	248437112	813509	2023	4169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													134	373					0	0	1	0	0	G	248458261	A	G	248458261	3	3	22	1	0	0	0	0	1	0	0	0	11067	275	10	3	345	3	OR2T12	1	248458261	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21149	248458261	792360	2024	4170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	253					0	0	1	0	0	T	248512485	C	T	248512485	4	4	22	1	0	0	0	0	0	1	0	0	10994	876	31	1	411	1	OR14C36	1	248512485	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54224	248512485	738136	2025	4171											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													130	705					9.19936e-45	1.12636e-44	1	1	0	A	248525877	C	A	248525877	3	1	22	1	0	0	0	0	1	0	0	0	11075	797	28	2	997	2	OR2T4	1	248525877	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13392	248525877	724744	2026	4172											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	378					1.72039e-30	2.01868e-30	1	1	0	A	248636985	C	A	248636985	3	1	22	1	0	0	0	0	1	0	0	0	11071	680	24	2	336	2	OR2T3	1	248636985	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111108	248636985	613636	2027	4173											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	212					0	0	1	0	0	A	248685389	G	A	248685389	3	1	22	1	0	0	0	0	1	0	0	0	11048	971	34	2	444	2	OR2G6	1	248685389	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48404	248685389	565232	2028	4174											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	343					0	0	1	0	0	T	248790026	C	T	248790026	3	4	22	1	0	0	0	0	1	0	0	0	11066	768	27	1	550	1	OR2T11	1	248790026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104637	248790026	460595	2029	4175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000411742.2_Silent_p.L103L|SH3BP5L_ENST00000475978.1_5'UTR	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													19	269					0	0	1	0	0	A	249108782	G	A	249108782	2	1	22	1	0	0	0	0	0	0	0	1	14302	962	34	2		2	SH3BP5L	1	249108782	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	318756	249108782	141839	2030	4176											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	51					0	0	1	0	0	C	249142057	T	C	249142057	3	2	22	1	0	0	0	0	1	0	0	0	18136	1667	58	3	586	3	ZNF672	1	249142057	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33275	249142057	108564	2031	4177											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	30					0	0	1	0	0	T	249142226	C	T	249142226	2	4	22	1	0	0	0	0	0	0	0	1	18136	755	27	1		1	ZNF672	1	249142226	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169	249142226	108395	2032	4178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000306601.4_Silent_p.G79G|ZNF692_ENST00000366469.5_Silent_p.G79G|ZNF692_ENST00000427146.1_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													11	413					0	0	1	0	0	G	249151671	A	G	249151671	2	3	22	1	0	0	0	0	0	0	0	1	18153	262	10	3		3	ZNF692	1	249151671	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9445	249151671	98950	2033	4179											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	231					0	0	1	0	0	A	249212090	G	A	249212090	3	1	22	1	0	0	0	0	1	0	0	0	11829	1145	40	1	1313	1	PGBD2	1	249212090	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60419	249212090	38531	2034	4180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	93					0	0	1	0	0	A	1243543	G	A	1243543	3	1	22	1	0	0	0	0	1	0	0	0	14929	1058	37	1	925	1	SNTG2	2	1243543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08		1243543	241955830	2035	4181											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Nonsense_Mutation_p.R189*|TPO_ENST00000337415.3_Nonsense_Mutation_p.R189*|TPO_ENST00000349624.3_Nonsense_Mutation_p.R189*|TPO_ENST00000329066.4_Nonsense_Mutation_p.R189*|TPO_ENST00000382201.3_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													117	364					0	0	1	0	0	T	1457548	C	T	1457548	4	4	22	1	0	0	0	0	0	1	0	0	16471	644	23	1	583	1	TPO	2	1457548	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	214005	1457548	241741825	2036	4182											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Silent_p.V205V|TPO_ENST00000337415.3_Silent_p.V205V|TPO_ENST00000349624.3_Silent_p.V205V|TPO_ENST00000329066.4_Silent_p.V205V|TPO_ENST00000382201.3_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													42	113					0	0	1	0	0	T	1459850	C	T	1459850	2	4	22	1	0	0	0	0	0	0	0	1	16471	842	30	2		2	TPO	2	1459850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2302	1459850	241739523	2037	4183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Silent_p.C598C|TPO_ENST00000337415.3_Silent_p.C598C|TPO_ENST00000349624.3_Silent_p.C425C|TPO_ENST00000329066.4_Silent_p.C598C|TPO_ENST00000382201.3_Silent_p.C541C	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													12	173					0	0	1	0	0	T	1497599	C	T	1497599	2	4	22	1	0	0	0	0	0	0	0	1	16471	776	27	1		1	TPO	2	1497599	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37749	1497599	241701774	2038	4184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	368					1.05317e-09	1.11087e-09	1	1	0	T	1647332	G	T	1647332	3	4	22	1	0	0	0	0	1	0	0	0	12899	1232	43	2	699	2	PXDN	2	1647332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149733	1647332	241552041	2039	4185											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													153	887					0	0	1	0	0	G	1651965	T	G	1651965	3	3	22	1	0	0	0	0	1	0	0	0	12899	1551	54	3	880	3	PXDN	2	1651965	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4633	1651965	241547408	2040	4186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	598					0	0	1	0	0	A	1652088	G	A	1652088	3	1	22	1	0	0	0	0	1	0	0	0	12899	1087	38	1	1003	1	PXDN	2	1652088	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123	1652088	241547285	2041	4187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	122					0	0	1	0	0	A	1653036	G	A	1653036	3	1	22	1	0	0	0	0	1	0	0	0	12899	1319	46	2	1951	2	PXDN	2	1653036	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	948	1653036	241546337	2042	4188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	506					5.5301e-39	6.67972e-39	1	1	0	A	1667419	C	A	1667419	3	1	22	1	0	0	0	0	1	0	0	0	12899	652	23	4	2962	4	PXDN	2	1667419	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14383	1667419	241531954	2043	4189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													203	642					0	0	1	0	0	A	1677465	G	A	1677465	3	1	22	1	0	0	0	0	1	0	0	0	12899	1203	42	2	3531	2	PXDN	2	1677465	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10046	1677465	241521908	2044	4190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	78					0	0	1	0	0	A	1680761	G	A	1680761	2	1	22	1	0	0	0	0	0	0	0	1	12899	1103	39	1		1	PXDN	2	1680761	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3296	1680761	241518612	2045	4191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	51					5.50884e-06	5.65664e-06	1	1	0	A	1687462	C	A	1687462	3	1	22	1	0	0	0	0	1	0	0	0	12899	681	24	2	3985	2	PXDN	2	1687462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6701	1687462	241511911	2046	4192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	128					0	0	1	0	0	T	1796203	C	T	1796203	3	4	22	1	0	0	0	0	1	0	0	0	10155	893	31	1	258	1	MYT1L	2	1796203	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108741	1796203	241403170	2047	4193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	310					0	0	1	0	0	T	1893190	C	T	1893190	2	4	22	1	0	0	0	0	0	0	0	1	10155	738	26	2		2	MYT1L	2	1893190	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96987	1893190	241306183	2048	4194											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	323					9.16818e-52	1.13871e-51	1	1	0	A	1926559	C	A	1926559	4	1	22	1	0	0	0	0	0	1	0	0	10155	864	30	2	2636	2	MYT1L	2	1926559	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33369	1926559	241272814	2049	4195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	870					0	0	1	0	0	T	1926671	C	T	1926671	2	4	22	1	0	0	0	0	0	0	0	1	10155	755	27	1		1	MYT1L	2	1926671	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112	1926671	241272702	2050	4196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382125.4_Missense_Mutation_p.R326H|TSSC1_ENST00000478754.1_5'UTR			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													32	149					0	0	1	0	0	T	3196197	C	T	3196197	3	4	22	1	0	0	0	0	1	0	0	0	16727	536	19	1	194	1	TSSC1	2	3196197	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1269526	3196197	240003176	2051	4197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382125.4_Missense_Mutation_p.A138S|TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000443925.2_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													51	208					1.46357e-32	1.7291e-32	1	1	0	A	3261074	C	A	3261074	3	1	22	1	0	0	0	0	1	0	0	0	16727	739	26	2	775	2	TSSC1	2	3261074	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64877	3261074	239938299	2052	4198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000418971.2_Silent_p.A60A|COLEC11_ENST00000402794.1_Intron|COLEC11_ENST00000382062.2_Silent_p.A46A|COLEC11_ENST00000487365.1_Intron|COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000349077.4_Silent_p.A46A|COLEC11_ENST00000403096.3_Silent_p.A20A|COLEC11_ENST00000402922.1_Silent_p.A20A	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													17	78					0	0	1	0	0	A	3660908	G	A	3660908	3	1	22	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	2053	4199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			138	457					0	0	1	0	0	A	3727504	G	A	3727504	3	1	22	1	0	0	0	0	1	0	0	0	530	1116	39	1	232	1	ALLC	2	3727504	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66596	3727504	239471869	2054	4200											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			64	425					0	0	1	0	0	C	3745013	A	C	3745013	3	2	22	1	0	0	0	0	1	0	0	0	530	43	2	3	851	3	ALLC	2	3745013	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17509	3745013	239454360	2055	4201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	109					0	0	1	0	0	T	5832882	C	T	5832882	3	4	22	1	0	0	0	0	1	0	0	0	14996	768	27	1	31	1	SOX11	2	5832882	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2087869	5832882	237366491	2056	4202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	164					0.00307968	0.00310409	1	1	0	T	5832971	G	T	5832971	3	4	22	1	0	0	0	0	1	0	0	0	14996	942	33	2	120	2	SOX11	2	5832971	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89	5832971	237366402	2057	4203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	128					0	0	1	0	0	A	5833253	G	A	5833253	3	1	22	1	0	0	0	0	1	0	0	0	14996	1087	38	1	402	1	SOX11	2	5833253	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	282	5833253	237366120	2058	4204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	262					0	0	1	0	0	T	7027154	C	T	7027154	2	4	22	1	0	0	0	0	0	0	0	1	13747	506	18	2		2	RSAD2	2	7027154	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1193901	7027154	236172219	2059	4205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	484					0	0	1	0	0	T	7170280	C	T	7170280	2	4	22	1	0	0	0	0	0	0	0	1	13497	547	19	1		1	RNF144A	2	7170280	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143126	7170280	236029093	2060	4206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427284.1_Silent_p.F1680F|KIDINS220_ENST00000418530.1_Silent_p.F1600F	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													84	249					0	0	1	0	0	A	8871069	G	A	8871069	2	1	22	1	0	0	0	0	0	0	0	1	8313	1049	37	1		1	KIDINS220	2	8871069	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1700789	8871069	234328304	2061	4207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427284.1_Missense_Mutation_p.M1624I|KIDINS220_ENST00000418530.1_Missense_Mutation_p.M1544I	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													68	317					0	0	1	0	0	T	8871237	C	T	8871237	3	4	22	1	0	0	0	0	1	0	0	0	8313	478	17	2	390	2	KIDINS220	2	8871237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168	8871237	234328136	2062	4208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427284.1_Silent_p.L1495L|KIDINS220_ENST00000418530.1_Silent_p.L1415L	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													59	313					0	0	1	0	0	A	8871626	G	A	8871626	2	1	22	1	0	0	0	0	0	0	0	1	8313	962	34	2		2	KIDINS220	2	8871626	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	389	8871626	234327747	2063	4209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473731.1_Missense_Mutation_p.R978Q|KIDINS220_ENST00000319688.5_Missense_Mutation_p.R979Q|KIDINS220_ENST00000427284.1_Missense_Mutation_p.R978Q|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R936Q	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													100	245					0	0	1	0	0	T	8910878	C	T	8910878	3	4	22	1	0	0	0	0	1	0	0	0	8313	652	23	1	2418	1	KIDINS220	2	8910878	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39252	8910878	234288495	2064	4210											
KIDINS220	57498	broad.mit.edu	37	chr2	8926341	8926341	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggaaatcctaccctgaGtatcttcagtcttgaatact	8	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8926341G>T	ENST00000256707.3	-	16	2115	c.1934C>A	c.(1933-1935)aCt>aAt	p.T645N	KIDINS220_ENST00000473731.1_Missense_Mutation_p.T645N|KIDINS220_ENST00000427284.1_Missense_Mutation_p.T645N|KIDINS220_ENST00000418530.1_Missense_Mutation_p.T603N|KIDINS220_ENST00000319688.5_Missense_Mutation_p.T646N	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	645	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)					CCTACCCTGAGTATCTTCAGT	0.423													184	559					4.99305e-99	6.4203e-99	1	1	0	T	8926341	G	T	8926341	3	4	22	1	0	0	0	0	1	0	0	0	8313	1029	36	2	3441	2	KIDINS220	2	8926341	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15463	8926341	234273032	2065	4211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473731.1_Missense_Mutation_p.M617I|KIDINS220_ENST00000427284.1_Missense_Mutation_p.M617I|KIDINS220_ENST00000418530.1_Missense_Mutation_p.M575I|KIDINS220_ENST00000319688.5_Missense_Mutation_p.M618I	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													68	885					0	0	1	0	0	T	8926424	C	T	8926424	3	4	22	1	0	0	0	0	1	0	0	0	8313	826	29	2	3524	2	KIDINS220	2	8926424	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83	8926424	234272949	2066	4212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473731.1_Silent_p.T337T|KIDINS220_ENST00000427284.1_Silent_p.T337T|KIDINS220_ENST00000418530.1_Silent_p.T295T|KIDINS220_ENST00000319688.5_Silent_p.T338T	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													15	638					0	0	1	0	0	T	8936988	C	T	8936988	2	4	22	1	0	0	0	0	0	0	0	1	8313	755	27	1		1	KIDINS220	2	8936988	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10564	8936988	234262385	2067	4213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473731.1_Missense_Mutation_p.H83R|KIDINS220_ENST00000427284.1_Missense_Mutation_p.H83R|KIDINS220_ENST00000418530.1_Missense_Mutation_p.H41R|KIDINS220_ENST00000319688.5_Missense_Mutation_p.H83R	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													154	488					0	0	1	0	0	C	8957806	T	C	8957806	3	2	22	1	0	0	0	0	1	0	0	0	8313	1464	51	3	5175	3	KIDINS220	2	8957806	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20818	8957806	234241567	2068	4214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	695					0	0	1	0	0	A	9463281	G	A	9463281	3	1	22	1	0	0	0	0	1	0	0	0	1010	1087	38	1	524	1	ASAP2	2	9463281	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	505475	9463281	233736092	2069	4215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	352					0	0	1	0	0	A	9541430	G	A	9541430	3	1	22	1	0	0	0	0	1	0	0	0	1010	971	34	2	2957	2	ASAP2	2	9541430	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78149	9541430	233657943	2070	4216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000489468.1_3'UTR|IAH1_ENST00000545602.1_Silent_p.C32C|IAH1_ENST00000482918.1_Silent_p.C32C|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													30	159					0	0	1	0	0	T	9621566	C	T	9621566	2	4	22	1	0	0	0	0	0	0	0	1	7515	718	25	2		2	IAH1	2	9621566	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80136	9621566	233577807	2071	4217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	359					0	0	1	0	0	T	9658104	C	T	9658104	3	4	22	1	0	0	0	0	1	0	0	0	237	565	20	2	1397	2	ADAM17	2	9658104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36538	9658104	233541269	2072	4218											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	196					0	0	1	0	0	T	9676016	C	T	9676016	3	4	22	1	0	0	0	0	1	0	0	0	237	913	32	2	2141	2	ADAM17	2	9676016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17912	9676016	233523357	2073	4219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	11	58					0	0	1	0	0	T	9695662	C	T	9695662	3	4	22	1	0	0	0	0	1	0	0	0	237	623	22	2	2477	2	ADAM17	2	9695662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19646	9695662	233503711	2074	4220											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_005671.2	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													85	396					3.24273e-39	3.91873e-39	1	1	0	A	10045080	C	A	10045080	4	1	22	1	0	0	0	0	0	1	0	0	15577	805	28	2	934	2	TAF1B	2	10045080	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	349418	10045080	233154293	2075	4221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_005671.2	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													22	114					0	0	1	0	0	G	10051681	A	G	10051681	3	3	22	1	0	0	0	0	1	0	0	0	15577	14	1	3	1217	3	TAF1B	2	10051681	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6601	10051681	233147692	2076	4222											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_005671.2	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													70	195					0	0	1	0	0	C	10073915	T	C	10073915	2	2	22	1	0	0	0	0	0	0	0	1	15577	1500	52	3		3	TAF1B	2	10073915	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22234	10073915	233125458	2077	4223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000324883.5_Silent_p.S18S|GRHL1_ENST00000405379.2_Missense_Mutation_p.R182W	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													115	566					0	0	1	0	0	T	10101440	C	T	10101440	3	4	22	1	0	0	0	0	1	0	0	0	6804	759	27	1	558	1	GRHL1	2	10101440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27525	10101440	233097933	2078	4224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	206					5.98616e-33	7.08481e-33	1	1	0	A	10192541	C	A	10192541	2	1	22	1	0	0	0	0	0	0	0	1	8382	845	30	2		2	KLF11	2	10192541	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91101	10192541	233006832	2079	4225											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	379					0	0	1	0	0	C	10350578	T	C	10350578	3	2	22	1	0	0	0	0	1	0	0	0	2184	1783	62	3	345	3	C2orf48	2	10350578	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	158037	10350578	232848795	2080	4226											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													308	852					4.66897e-105	6.00787e-105	1	1	0	T	10712235	G	T	10712235	3	4	22	1	0	0	0	0	1	0	0	0	10567	991	35	2	41	2	NOL10	2	10712235	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	361657	10712235	232487138	2081	4227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													240	706					0	0	1	0	0	T	10912016	C	T	10912016	2	4	22	1	0	0	0	0	0	0	0	1	1179	883	31	1		1	ATP6V1C2	2	10912016	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199781	10912016	232287357	2082	4228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	319					2.18907e-53	2.72816e-53	1	1	0	T	10918751	G	T	10918751	3	4	22	1	0	0	0	0	1	0	0	0	1179	1183	41	2	1059	2	ATP6V1C2	2	10918751	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6735	10918751	232280622	2083	4229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381611.4_Missense_Mutation_p.L180M|PDIA6_ENST00000272227.3_Missense_Mutation_p.L175M|PDIA6_ENST00000540494.1_Missense_Mutation_p.L172M|PDIA6_ENST00000404824.2_Missense_Mutation_p.L223M			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													108	269					8.13839e-76	1.0381e-75	1	1	0	T	10931982	G	T	10931982	3	4	22	1	0	0	0	0	1	0	0	0	11719	933	33	2	831	2	PDIA6	2	10931982	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13231	10931982	232267391	2084	4230											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	400					3.10996e-30	3.64561e-30	1	1	0	T	11052960	G	T	11052960	3	4	22	1	0	0	0	0	1	0	0	0	8070	991	35	2	410	2	KCNF1	2	11052960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120978	11052960	232146413	2085	4231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	106					0	0	1	0	0	A	11273597	G	A	11273597	3	1	22	1	0	0	0	0	1	0	0	0	2186	1319	46	2	139	2	C2orf50	2	11273597	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	220637	11273597	231925776	2086	4232											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													141	345					0	0	1	0	0	C	11337362	T	C	11337362	3	2	22	1	0	0	0	0	1	0	0	0	13570	1435	50	3	802	3	ROCK2	2	11337362	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63765	11337362	231862011	2087	4233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000546212.1_Intron|E2F6_ENST00000307236.4_Silent_p.V16V|E2F6_ENST00000542100.1_5'UTR|E2F6_ENST00000362009.4_Silent_p.V48V	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													43	114					0	0	1	0	0	C	11597324	T	C	11597324	2	2	22	1	0	0	0	0	0	0	0	1	4897	1625	57	3		3	E2F6	2	11597324	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	259962	11597324	231602049	2088	4234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11733252G>A	ENST00000381486.2	+	11	1996	c.1696_splice	c.e11+1	p.G566_splice	GREB1_ENST00000234142.5_Splice_Site_p.G566_splice	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													21	80					0	0	1	0	0	A	11733252	G	A	11733252	5	1	22	1	0	0	0	0	0	0	1	0	6801	1130	39	1	1842	1	GREB1	2	11733252	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135928	11733252	231466121	2089	4235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													179	499					0	0	1	0	0	T	11738934	C	T	11738934	3	4	22	1	0	0	0	0	1	0	0	0	6801	623	22	2	2443	2	GREB1	2	11738934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5682	11738934	231460439	2090	4236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													156	1134					0	0	1	0	0	T	11756779	C	T	11756779	2	4	22	1	0	0	0	0	0	0	0	1	6801	738	26	2		2	GREB1	2	11756779	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17845	11756779	231442594	2091	4237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	345					0	0	1	0	0	T	11777873	C	T	11777873	3	4	22	1	0	0	0	0	1	0	0	0	6801	739	26	2	5604	2	GREB1	2	11777873	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21094	11777873	231421500	2092	4238											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396098.1_Missense_Mutation_p.E391D|LPIN1_ENST00000449576.2_Missense_Mutation_p.E434D|LPIN1_ENST00000396097.1_Missense_Mutation_p.E79D|LPIN1_ENST00000396099.1_Missense_Mutation_p.E391D|LPIN1_ENST00000425416.2_Missense_Mutation_p.E355D	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													86	272					2.93434e-44	3.58945e-44	1	1	0	T	11922524	G	T	11922524	3	4	22	1	0	0	0	0	1	0	0	0	8963	933	33	2	1069	2	LPIN1	2	11922524	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144651	11922524	231276849	2093	4239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449576.2_Missense_Mutation_p.M814L|LPIN1_ENST00000396097.1_Missense_Mutation_p.M459L|LPIN1_ENST00000396099.1_Missense_Mutation_p.M771L|LPIN1_ENST00000404113.2_Missense_Mutation_p.M230L|LPIN1_ENST00000425416.2_Missense_Mutation_p.M735L	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													8	293					0	0	1	0	0	C	11955257	A	C	11955257	3	2	22	1	0	0	0	0	1	0	0	0	8963	333	12	3	2247	3	LPIN1	2	11955257	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32733	11955257	231244116	2094	4240											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	219					0	0	1	0	0	A	12880819	G	A	12880819	3	1	22	1	0	0	0	0	1	0	0	0	16544	942	33	2	941	2	TRIB2	2	12880819	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	925562	12880819	230318554	2095	4241											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	154					9.57634e-11	1.01752e-10	1	1	0	T	14774144	G	T	14774144	3	4	22	1	0	0	0	0	1	0	0	0	5673	971	34	2	43	2	FAM84A	2	14774144	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1893325	14774144	228425229	2096	4242											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	66					3.52763e-06	3.62938e-06	1	1	0	A	14774452	C	A	14774452	3	1	22	1	0	0	0	0	1	0	0	0	5673	739	26	2	351	2	FAM84A	2	14774452	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	308	14774452	228424921	2097	4243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	30					0	0	1	0	0	T	14774697	C	T	14774697	2	4	22	1	0	0	0	0	0	0	0	1	5673	726	26	2		2	FAM84A	2	14774697	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	245	14774697	228424676	2098	4244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	133					0	0	1	0	0	A	14774877	G	A	14774877	2	1	22	1	0	0	0	0	0	0	0	1	5673	1252	44	2		2	FAM84A	2	14774877	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180	14774877	228424496	2099	4245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	248					0	0	1	0	0	A	15307260	G	A	15307260	3	1	22	1	0	0	0	0	1	0	0	0	10234	1203	42	2	91	2	NBAS	2	15307260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	532383	15307260	227892113	2100	4246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	273					0	0	1	0	0	C	15330414	A	C	15330414	2	2	22	1	0	0	0	0	0	0	0	1	10234	59	3	3		3	NBAS	2	15330414	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23154	15330414	227868959	2101	4247											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													242	598					0	0	1	0	0	T	15493765	C	T	15493765	3	4	22	1	0	0	0	0	1	0	0	0	10234	536	19	1	3190	1	NBAS	2	15493765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163351	15493765	227705608	2102	4248											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	107					0	0	1	0	0	G	15534373	A	G	15534373	2	3	22	1	0	0	0	0	0	0	0	1	10234	98	4	3		3	NBAS	2	15534373	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40608	15534373	227665000	2103	4249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	374					0	0	1	0	0	T	15555769	C	T	15555769	2	4	22	1	0	0	0	0	0	0	0	1	10234	755	27	1		1	NBAS	2	15555769	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21396	15555769	227643604	2104	4250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	382					3.86212e-05	3.93988e-05	1	1	0	A	15564475	C	A	15564475	3	1	22	1	0	0	0	0	1	0	0	0	10234	912	32	2	4694	2	NBAS	2	15564475	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8706	15564475	227634898	2105	4251											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	102					0	0	1	0	0	T	15601859	C	T	15601859	2	4	22	1	0	0	0	0	0	0	0	1	10234	912	32	2		2	NBAS	2	15601859	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37384	15601859	227597514	2106	4252											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								36	178					0	0	1	0	0	T	16085728	C	T	16085728	3	4	22	1	0	0	0	0	1	0	0	0	10069	768	27	1	910	1	MYCN	2	16085728	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	483869	16085728	227113645	2107	4253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000406434.1_Missense_Mutation_p.Q152H|FAM49A_ENST00000355549.2_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													9	256					7.48243e-07	7.73841e-07	1	1	0	A	16742781	C	A	16742781	3	1	22	1	0	0	0	0	1	0	0	0	5611	912	32	2	539	2	FAM49A	2	16742781	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	657053	16742781	226456592	2108	4254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	317					0	0	1	0	0	T	17697531	C	T	17697531	3	4	22	1	0	0	0	0	1	0	0	0	13039	478	17	2	1339	2	RAD51AP2	2	17697531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	954750	17697531	225501842	2109	4255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	50					0	0	1	0	0	T	17698100	C	T	17698100	3	4	22	1	0	0	0	0	1	0	0	0	13039	565	20	2	1908	2	RAD51AP2	2	17698100	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	569	17698100	225501273	2110	4256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	256					0	0	1	0	0	T	17698488	C	T	17698488	3	4	22	1	0	0	0	0	1	0	0	0	13039	536	19	1	2296	1	RAD51AP2	2	17698488	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	388	17698488	225500885	2111	4257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	673					0	0	1	0	0	A	17773500	G	A	17773500	2	1	22	1	0	0	0	0	0	0	0	1	17287	1277	45	2		2	VSNL1	2	17773500	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75012	17773500	225425873	2112	4258											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.V343M	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					12	83					0	0	1	0	0	A	17954522	G	A	17954522	3	1	22	1	0	0	0	0	1	0	0	0	6377	1261	44	2	1061	2	GEN1	2	17954522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181022	17954522	225244851	2113	4259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					69	263					0	0	1	0	0	T	17959282	C	T	17959282	4	4	22	1	0	0	0	0	0	1	0	0	6377	876	31	1	1258	1	GEN1	2	17959282	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4760	17959282	225240091	2114	4260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	440					3.77759e-48	4.65876e-48	1	1	0	T	17998000	G	T	17998000	3	4	22	1	0	0	0	0	1	0	0	0	9918	1203	42	2	217	2	MSGN1	2	17998000	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38718	17998000	225201373	2115	4261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	313					0	0	1	0	0	T	17998310	C	T	17998310	2	4	22	1	0	0	0	0	0	0	0	1	9918	874	31	1		1	MSGN1	2	17998310	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	310	17998310	225201063	2116	4262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	275					2.0833e-19	2.32388e-19	1	1	0	T	17998323	G	T	17998323	3	4	22	1	0	0	0	0	1	0	0	0	9918	942	33	2	540	2	MSGN1	2	17998323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13	17998323	225201050	2117	4263											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000304101.4_Nonsense_Mutation_p.R163*|KCNS3_ENST00000465292.1_Intron			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													30	297					0	0	1	0	0	T	18112762	C	T	18112762	4	4	22	1	0	0	0	0	0	1	0	0	8134	760	27	1	489	1	KCNS3	2	18112762	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114439	18112762	225086611	2118	4264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000304101.4_Missense_Mutation_p.T482I|KCNS3_ENST00000465292.1_Intron			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													115	285					0	0	1	0	0	T	18113720	C	T	18113720	3	4	22	1	0	0	0	0	1	0	0	0	8134	507	18	2	1447	2	KCNS3	2	18113720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	958	18113720	225085653	2119	4265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000460052.1_5'UTR|NT5C1B_ENST00000600945.1_Missense_Mutation_p.D136Y|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.D136Y|NT5C1B_ENST00000359846.2_Missense_Mutation_p.D136Y	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													134	372					9.12202e-81	1.16676e-80	1	1	0	A	18767552	C	A	18767552	3	1	22	1	0	0	0	0	1	0	0	0	10734	913	32	2	1454	2	NT5C1B	2	18767552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	653832	18767552	224431821	2120	4266											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	618					0	0	1	0	0	T	19553022	C	T	19553022	3	4	22	1	0	0	0	0	1	0	0	0	11340	768	27	1	263	1	OSR1	2	19553022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	785470	19553022	223646351	2121	4267											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	190					0	0	1	0	0	T	20133266	C	T	20133266	3	4	22	1	0	0	0	0	1	0	0	0	17349	797	28	2	982	2	WDR35	2	20133266	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	580244	20133266	223066107	2122	4268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000254351.4_Silent_p.S45S|SDC1_ENST00000403076.1_Silent_p.S45S|SDC1_ENST00000482879.1_5'UTR	NM_001006946.1	NP_001006947.1	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													71	670					0	0	1	0	0	A	20405117	G	A	20405117	2	1	22	1	0	0	0	0	0	0	0	1	14005	1103	39	1		1	SDC1	2	20405117	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	271851	20405117	222794256	2123	4269											
PUM2	23369	broad.mit.edu	37	chr2	20482977	20482979	+	In_Frame_Del	DEL	GCT	GCT	-													ggctacttgcagttcctccaGctgctgctgctgctgctgta							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20482977_20482979delGCT	ENST00000361078.2	-	11	1471_1473	c.1449_1451delAGC	c.(1447-1452)gct>gc	p.AA483del	PUM2_ENST00000403432.1_In_Frame_Del_p.AA483del|PUM2_ENST00000338086.5_In_Frame_Del_p.AA483del|PUM2_ENST00000319801.5_In_Frame_Del_p.AA483del|PUM2_ENST00000536417.1_In_Frame_Del_p.AA427del			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	483	Ala-rich.				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)					AGTTCCTCCAGCTGCTGCTGCTG	0.424													7	492	---	---	---	---						-	20482979	GCT	-	20482977	7	5	22	1	0	1	0	1	0	0	0	0	12878	971	34	0	1783	0	PUM2	2	20482977	In_Frame_Del	DEL	GCT	TCGA-IB-7651-01A-11D-2154-08	77860	20482977	222716396	2124	4270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000338086.5_Missense_Mutation_p.D171A|PUM2_ENST00000403432.1_Missense_Mutation_p.D171A|PUM2_ENST00000319801.5_Missense_Mutation_p.D171A|PUM2_ENST00000536417.1_Missense_Mutation_p.D115A|PUM2_ENST00000420234.1_Intron			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													28	208					0	0	1	0	0	G	20511261	T	G	20511261	3	3	22	1	0	0	0	0	1	0	0	0	12878	1435	50	3	2750	3	PUM2	2	20511261	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28284	20511261	222688112	2125	4271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	168					0	0	1	0	0	A	20871120	G	A	20871120	3	1	22	1	0	0	0	0	1	0	0	0	6360	1087	38	1	1294	1	GDF7	2	20871120	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	359859	20871120	222328253	2126	4272											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381090.3_Missense_Mutation_p.L229V|C2orf43_ENST00000440866.2_Intron|C2orf43_ENST00000435420.2_Missense_Mutation_p.L181V|C2orf43_ENST00000541941.1_Missense_Mutation_p.L99V|C2orf43_ENST00000403006.2_Missense_Mutation_p.L99V	NM_021925.2	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													123	356					0	0	1	0	0	C	20939749	A	C	20939749	3	2	22	1	0	0	0	0	1	0	0	0	2181	98	4	3	304	3	C2orf43	2	20939749	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	68629	20939749	222259624	2127	4273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000375.2	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													27	806					0	0	1	0	0	C	21224719	A	C	21224719	3	2	22	1	0	0	0	0	1	0	0	0	782	242	9	3	120	3	APOB	2	21224719	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	284970	21224719	221974654	2128	4274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000375.2	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													273	1540					0	0	1	0	0	A	21226159	G	A	21226159	2	1	22	1	0	0	0	0	0	0	0	1	782	1161	41	2		2	APOB	2	21226159	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1440	21226159	221973214	2129	4275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000375.2	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													135	320					0	0	1	0	0	T	21229067	C	T	21229067	3	4	22	1	0	0	0	0	1	0	0	0	782	768	27	1	3034	1	APOB	2	21229067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2908	21229067	221970306	2130	4276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000375.2	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													173	549					0	0	1	0	0	C	21229127	A	C	21229127	3	2	22	1	0	0	0	0	1	0	0	0	782	101	4	3	3094	3	APOB	2	21229127	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60	21229127	221970246	2131	4277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000375.2	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													32	78					0	0	1	0	0	G	21233266	A	G	21233266	2	3	22	1	0	0	0	0	0	0	0	1	782	126	5	3		3	APOB	2	21233266	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4139	21233266	221966107	2132	4278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000375.2	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													197	489					0	0	1	0	0	G	21233848	A	G	21233848	2	3	22	1	0	0	0	0	0	0	0	1	782	117	5	3		3	APOB	2	21233848	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	582	21233848	221965525	2133	4279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000375.2	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													238	723					0	0	1	0	0	A	21236120	G	A	21236120	2	1	22	1	0	0	0	0	0	0	0	1	782	1306	46	2		2	APOB	2	21236120	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2272	21236120	221963253	2134	4280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000375.2	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													68	344					0	0	1	0	0	A	21238318	G	A	21238318	2	1	22	1	0	0	0	0	0	0	0	1	782	1335	47	2		2	APOB	2	21238318	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2198	21238318	221961055	2135	4281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000375.2	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													26	277					4.87955e-14	5.28594e-14	1	1	0	T	21245781	G	T	21245781	3	4	22	1	0	0	0	0	1	0	0	0	782	971	34	2	11001	2	APOB	2	21245781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7463	21245781	221953592	2136	4282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000375.2	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													133	639					0	0	1	0	0	A	21250864	G	A	21250864	3	1	22	1	0	0	0	0	1	0	0	0	782	1057	37	1	11852	1	APOB	2	21250864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5083	21250864	221948509	2137	4283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	183					0	0	1	0	0	C	23977640	A	C	23977640	2	2	22	1	0	0	0	0	0	0	0	1	1071	59	3	3		3	ATAD2B	2	23977640	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2726776	23977640	219221733	2138	4284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	207					4.4194e-11	4.70867e-11	1	1	0	A	24033200	C	A	24033200	4	1	22	1	0	0	0	0	0	1	0	0	1071	864	30	2	1980	2	ATAD2B	2	24033200	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55560	24033200	219166173	2139	4285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535786.1_Silent_p.Q29Q|UBXN2A_ENST00000404924.1_Silent_p.Q29Q|UBXN2A_ENST00000446425.2_3'UTR	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													153	374					0	0	1	0	0	G	24194191	A	G	24194191	2	3	22	1	0	0	0	0	0	0	0	1	16974	40	2	3		3	UBXN2A	2	24194191	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	160991	24194191	219005182	2140	4286											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	67					3.5997e-14	3.90403e-14	1	1	0	A	24236237	C	A	24236237	3	1	22	1	0	0	0	0	1	0	0	0	9581	739	26	2	185	2	MFSD2B	2	24236237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42046	24236237	218963136	2141	4287											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	285					0	0	1	0	0	A	24239035	G	A	24239035	3	1	22	1	0	0	0	0	1	0	0	0	9581	1087	38	1	242	1	MFSD2B	2	24239035	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2798	24239035	218960338	2142	4288											
MFSD2B	388931	broad.mit.edu	37	chr2	24239769	24239770	+	Frame_Shift_Ins	INS	-	-	C													acttcttcctgtggttcctgINSccccccttcaccagcctgcg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24239769_24239770insC	ENST00000338315.4	+	4	402_403	c.402_403insC	c.(400-405)ctccccfs	p.LP134fs	MFSD2B_ENST00000406420.3_Frame_Shift_Ins_p.LP134fs			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	134					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TGTGGTTCCTGCCCCCCTTCAC	0.668													34	298	---	---	---	---						C	24239770	-	C	24239769	7	5	22	1	0	1	1	0	0	0	0	0	9581	1306	46	0	416	0	MFSD2B	2	24239769	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	734	24239769	218959604	2143	4289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	311					0	0	1	0	0	A	24239805	G	A	24239805	2	1	22	1	0	0	0	0	0	0	0	1	9581	1045	37	1		1	MFSD2B	2	24239805	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36	24239805	218959568	2144	4290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								126	574					1.75222e-57	2.19469e-57	1	1	0	A	24261218	C	A	24261218	4	1	22	1	0	0	0	0	0	1	0	0	2182	922	32	2	1030	2	C2orf44	2	24261218	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21413	24261218	218938155	2145	4291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	246					0	0	1	0	0	A	24471562	G	A	24471562	3	1	22	1	0	0	0	0	1	0	0	0	7971	1319	46	2	1976	2	ITSN2	2	24471562	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	210344	24471562	218727811	2146	4292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	231					0	0	1	0	0	T	24484038	C	T	24484038	4	4	22	1	0	0	0	0	0	1	0	0	7971	740	26	2	2601	2	ITSN2	2	24484038	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12476	24484038	218715335	2147	4293											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													221	1289					4.94232e-47	6.07969e-47	1	1	0	A	24533163	C	A	24533163	4	1	22	1	0	0	0	0	0	1	0	0	7971	690	24	2	4637	2	ITSN2	2	24533163	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49125	24533163	218666210	2148	4294											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348332.3_Silent_p.S155S|NCOA1_ENST00000407230.1_Silent_p.S4S|NCOA1_ENST00000395856.3_Silent_p.S155S|NCOA1_ENST00000406961.1_Silent_p.S155S|NCOA1_ENST00000288599.5_Silent_p.S155S|NCOA1_ENST00000538539.1_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								55	329					0	0	1	0	0	T	24905930	C	T	24905930	2	4	22	1	0	0	0	0	0	0	0	1	10275	767	27	1		1	NCOA1	2	24905930	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	372767	24905930	218293443	2149	4295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348332.3_Silent_p.T979T|NCOA1_ENST00000407230.1_Silent_p.T828T|NCOA1_ENST00000395856.3_Silent_p.T979T|NCOA1_ENST00000406961.1_Silent_p.T979T|NCOA1_ENST00000288599.5_Silent_p.T979T|NCOA1_ENST00000538539.1_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								211	556					0	0	1	0	0	A	24952420	G	A	24952420	2	1	22	1	0	0	0	0	0	0	0	1	10275	1074	38	1		1	NCOA1	2	24952420	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46490	24952420	218246953	2150	4296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405141.1_3'UTR|NCOA1_ENST00000348332.3_Silent_p.G1404G|NCOA1_ENST00000407230.1_3'UTR|NCOA1_ENST00000395856.3_Silent_p.G1403G|NCOA1_ENST00000288599.5_3'UTR|NCOA1_ENST00000538539.1_3'UTR			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								93	509					0	0	1	0	0	T	24991146	C	T	24991146	2	4	22	1	0	0	0	0	0	0	0	1	10275	755	27	1		1	NCOA1	2	24991146	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38726	24991146	218208227	2151	4297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ADCY3_ENST00000405392.1_Silent_p.Y683Y|CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR	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													34	202					0	0	1	0	0	A	25042948	G	A	25042948	2	1	22	1	0	0	0	0	0	0	0	1	294	1140	40	1		1	ADCY3	2	25042948	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51802	25042948	218156425	2152	4298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ADCY3_ENST00000405392.1_Missense_Mutation_p.L680I|CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR	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													52	185					8.72158e-25	9.98758e-25	1	1	0	T	25042959	G	T	25042959	3	4	22	1	0	0	0	0	1	0	0	0	294	1000	35	2	161	2	ADCY3	2	25042959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11	25042959	218156414	2153	4299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	225					0	0	1	0	0	C	25046192	T	C	25046192	2	2	22	1	0	0	0	0	0	0	0	1	294	1538	54	3		3	ADCY3	2	25046192	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3233	25046192	218153181	2154	4300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.V385I	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)	94	337					0	0	1	0	0	T	25050811	C	T	25050811	3	4	22	1	0	0	0	0	1	0	0	0	294	536	19	1	1078	1	ADCY3	2	25050811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4619	25050811	218148562	2155	4301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	366					0	0	1	0	0	T	25057670	C	T	25057670	3	4	22	1	0	0	0	0	1	0	0	0	294	768	27	1	1688	1	ADCY3	2	25057670	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6859	25057670	218141703	2156	4302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													179	757					5.09819e-84	6.53081e-84	1	1	0	T	25095498	G	T	25095498	3	4	22	1	0	0	0	0	1	0	0	0	294	991	35	2	2748	2	ADCY3	2	25095498	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37828	25095498	218103875	2157	4303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													153	422					0	0	1	0	0	G	25141381	A	G	25141381	3	3	22	1	0	0	0	0	1	0	0	0	294	246	9	3	3042	3	ADCY3	2	25141381	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45883	25141381	218057992	2158	4304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	318					0	0	1	0	0	T	25141705	C	T	25141705	3	4	22	1	0	0	0	0	1	0	0	0	294	768	27	1	3366	1	ADCY3	2	25141705	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	324	25141705	218057668	2159	4305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395826.2_Silent_p.R227R|POMC_ENST00000264708.3_Silent_p.R227R|POMC_ENST00000380794.1_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													36	226					8.73648e-17	9.61379e-17	1	1	0	T	25384073	G	T	25384073	2	4	22	1	0	0	0	0	0	0	0	1	12290	958	34	2		2	POMC	2	25384073	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242368	25384073	217815300	2160	4306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402667.1_Missense_Mutation_p.R567M|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R790M|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R601M|DNMT3A_ENST00000474887.1_5'UTR	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								34	138					3.76114e-14	4.07806e-14	1	1	0	A	25462038	C	A	25462038	3	1	22	1	0	0	0	0	1	0	0	0	4703	681	24	2	385	2	DNMT3A	2	25462038	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77965	25462038	217737335	2161	4307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402667.1_Missense_Mutation_p.Q392H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.Q615H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.Q426H|DNMT3A_ENST00000474887.1_5'UTR	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								113	261					6.1095e-40	7.39697e-40	1	1	0	A	25467030	C	A	25467030	3	1	22	1	0	0	0	0	1	0	0	0	4703	680	24	2	929	2	DNMT3A	2	25467030	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4992	25467030	217732343	2162	4308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402667.1_Missense_Mutation_p.A175V|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A398V|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								56	726					0	0	1	0	0	A	25469575	G	A	25469575	3	1	22	1	0	0	0	0	1	0	0	0	4703	1203	42	2	1601	2	DNMT3A	2	25469575	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2545	25469575	217729798	2163	4309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	DTNB_ENST00000496972.2_Missense_Mutation_p.L456M|DTNB_ENST00000545439.1_Missense_Mutation_p.L309M|AC104699.1_ENST00000352271.6_RNA|DTNB_ENST00000407661.3_Missense_Mutation_p.L513M|DTNB_ENST00000405222.1_Missense_Mutation_p.L483M|DTNB_ENST00000404103.3_Missense_Mutation_p.L513M|DTNB_ENST00000407186.1_Missense_Mutation_p.L483M|DTNB_ENST00000288642.8_Missense_Mutation_p.L513M|DTNB_ENST00000407038.3_Missense_Mutation_p.L483M	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													7	309					1.6384e-10	1.73828e-10	1	1	0	T	25650421	G	T	25650421	3	4	22	1	0	0	0	0	1	0	0	0	4815	962	34	2	370	2	DTNB	2	25650421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180846	25650421	217548952	2164	4310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000496972.2_5'UTR|DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000407661.3_Missense_Mutation_p.R42Q|DTNB_ENST00000405222.1_Missense_Mutation_p.R42Q|DTNB_ENST00000404103.3_Missense_Mutation_p.R42Q|DTNB_ENST00000407186.1_Missense_Mutation_p.R42Q|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000288642.8_Missense_Mutation_p.R42Q|DTNB_ENST00000407038.3_Missense_Mutation_p.R42Q	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													7	47					0	0	1	0	0	T	25861906	C	T	25861906	3	4	22	1	0	0	0	0	1	0	0	0	4815	884	31	1	1830	1	DTNB	2	25861906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211485	25861906	217337467	2165	4311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404843.1_Missense_Mutation_p.P808S|ASXL2_ENST00000336112.4_Missense_Mutation_p.P1297S			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													26	138					0	0	1	0	0	A	25965233	G	A	25965233	3	1	22	1	0	0	0	0	1	0	0	0	1066	1203	42	2	338	2	ASXL2	2	25965233	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103327	25965233	217234140	2166	4312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404843.1_Missense_Mutation_p.L159F|ASXL2_ENST00000336112.4_Missense_Mutation_p.L391F			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													236	1075					0	0	1	0	0	A	25973170	G	A	25973170	3	1	22	1	0	0	0	0	1	0	0	0	1066	942	33	2	3060	2	ASXL2	2	25973170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7937	25973170	217226203	2167	4313											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002245.4	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													55	290					0	0	1	0	0	A	26203981	G	A	26203981	3	1	22	1	0	0	0	0	1	0	0	0	8344	1059	37	1	1607	1	KIF3C	2	26203981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230811	26203981	216995392	2168	4314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	499					0	0	1	0	0	A	26350742	G	A	26350742	2	1	22	1	0	0	0	0	0	0	0	1	12942	1252	44	2		2	RAB10	2	26350742	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146761	26350742	216848631	2169	4315											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	322					4.50961e-65	5.70143e-65	1	1	0	A	26437387	C	A	26437387	3	1	22	1	0	0	0	0	1	0	0	0	6984	680	24	2	1496	2	HADHA	2	26437387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86645	26437387	216761986	2170	4316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537713.1_Missense_Mutation_p.G148S|HADHB_ENST00000405867.3_Intron|HADHB_ENST00000545822.1_Missense_Mutation_p.G141S|HADHB_ENST00000494615.1_3'UTR	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													51	444					0	0	1	0	0	A	26501526	G	A	26501526	3	1	22	1	0	0	0	0	1	0	0	0	6985	1000	35	2	513	2	HADHB	2	26501526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64139	26501526	216697847	2171	4317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26501669G>T	ENST00000317799.5	+	8	734	c.630_splice	c.e8+1	p.E210_splice	HADHB_ENST00000537713.1_Splice_Site_p.E195_splice|HADHB_ENST00000405867.3_Intron|HADHB_ENST00000545822.1_Splice_Site_p.E188_splice|HADHB_ENST00000494615.1_3'UTR	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													99	485					1.76403e-45	2.16332e-45	1	1	0	T	26501669	G	T	26501669	5	4	22	1	0	0	0	0	0	0	1	0	6985	1014	35	2	656	2	HADHB	2	26501669	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143	26501669	216697704	2172	4318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Missense_Mutation_p.L545I|GPR113_ENST00000541401.1_Missense_Mutation_p.L148I|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													7	116					2.7689e-08	2.89045e-08	1	1	0	T	26535831	G	T	26535831	3	4	22	1	0	0	0	0	1	0	0	0	6670	971	34	2	1711	2	GPR113	2	26535831	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34162	26535831	216663542	2173	4319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000338581.6_Missense_Mutation_p.S224I|OTOF_ENST00000339598.3_Missense_Mutation_p.S224I|OTOF_ENST00000403946.3_Missense_Mutation_p.S971I	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													37	112					2.35968e-33	2.79644e-33	1	1	0	A	26698861	C	A	26698861	3	1	22	1	0	0	0	0	1	0	0	0	11350	797	28	2	3358	2	OTOF	2	26698861	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163030	26698861	216500512	2174	4320											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	295					0	0	1	0	0	T	26705280	C	T	26705280	3	4	22	1	0	0	0	0	1	0	0	0	11350	913	32	2	4881	2	OTOF	2	26705280	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6419	26705280	216494093	2175	4321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	266					0	0	1	0	0	A	26724644	G	A	26724644	3	1	22	1	0	0	0	0	1	0	0	0	11350	971	34	2	5735	2	OTOF	2	26724644	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19364	26724644	216474729	2176	4322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	353					0	0	1	0	0	T	26798779	C	T	26798779	3	4	22	1	0	0	0	0	1	0	0	0	2204	726	26	2	90	2	C2orf70	2	26798779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74135	26798779	216400594	2177	4323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	256					0	0	1	0	0	A	26916011	G	A	26916011	3	1	22	1	0	0	0	0	1	0	0	0	8111	1145	40	1	270	1	KCNK3	2	26916011	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117232	26916011	216283362	2178	4324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	480					0	0	1	0	0	T	26950699	C	T	26950699	3	4	22	1	0	0	0	0	1	0	0	0	8111	759	27	1	454	1	KCNK3	2	26950699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34688	26950699	216248674	2179	4325											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	218					0	0	1	0	0	T	26950898	C	T	26950898	3	4	22	1	0	0	0	0	1	0	0	0	8111	536	19	1	653	1	KCNK3	2	26950898	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199	26950898	216248475	2180	4326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	48					0	0	1	0	0	T	26951010	C	T	26951010	2	4	22	1	0	0	0	0	0	0	0	1	8111	535	19	1		1	KCNK3	2	26951010	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112	26951010	216248363	2181	4327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	40					0	0	1	0	0	A	26951339	G	A	26951339	3	1	22	1	0	0	0	0	1	0	0	0	8111	1319	46	2	1094	2	KCNK3	2	26951339	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	329	26951339	216248034	2182	4328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	243					0	0	1	0	0	T	27154526	C	T	27154526	3	4	22	1	0	0	0	0	1	0	0	0	4776	826	29	2	706	2	DPYSL5	2	27154526	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	203187	27154526	216044847	2183	4329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	354					0	0	1	0	0	T	27247044	C	T	27247044	2	4	22	1	0	0	0	0	0	0	0	1	9346	535	19	1		1	MAPRE3	2	27247044	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92518	27247044	215952329	2184	4330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	516					0	0	1	0	0	T	27256991	C	T	27256991	3	4	22	1	0	0	0	0	1	0	0	0	16197	759	27	1	214	1	TMEM214	2	27256991	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9947	27256991	215942382	2185	4331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	561					0	0	1	0	0	T	27258519	C	T	27258519	3	4	22	1	0	0	0	0	1	0	0	0	16197	768	27	1	574	1	TMEM214	2	27258519	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1528	27258519	215940854	2186	4332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	216					0	0	1	0	0	T	27258869	C	T	27258869	2	4	22	1	0	0	0	0	0	0	0	1	16197	845	30	2		2	TMEM214	2	27258869	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	350	27258869	215940504	2187	4333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													146	426					1.09339e-60	1.37559e-60	1	1	0	A	27262629	C	A	27262629	3	1	22	1	0	0	0	0	1	0	0	0	16197	797	28	2	1600	2	TMEM214	2	27262629	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3760	27262629	215936744	2188	4334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	269					0	0	1	0	0	G	27263359	A	G	27263359	2	3	22	1	0	0	0	0	0	0	0	1	16197	204	8	3		3	TMEM214	2	27263359	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	730	27263359	215936014	2189	4335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													166	757					0	0	1	0	0	T	27282095	C	T	27282095	3	4	22	1	0	0	0	0	1	0	0	0	375	875	31	1	1950	1	AGBL5	2	27282095	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18736	27282095	215917278	2190	4336											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_115993.3	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													41	184					0	0	1	0	0	T	27352776	C	T	27352776	3	4	22	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	2191	4337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	439					0	0	1	0	0	T	27372993	C	T	27372993	2	4	22	1	0	0	0	0	0	0	0	1	15752	767	27	1		1	TCF23	2	27372993	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20217	27372993	215826380	2192	4338											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	242					0	0	1	0	0	A	27447894	G	A	27447894	3	1	22	1	0	0	0	0	1	0	0	0	2583	1087	38	1	1445	1	CAD	2	27447894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74901	27447894	215751479	2193	4339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	483					0	0	1	0	0	T	27449826	C	T	27449826	2	4	22	1	0	0	0	0	0	0	0	1	2583	767	27	1		1	CAD	2	27449826	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1932	27449826	215749547	2194	4340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000464159.1_3'UTR|CAD_ENST00000403525.1_Silent_p.S735S	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													32	148					0	0	1	0	0	T	27454442	C	T	27454442	2	4	22	1	0	0	0	0	0	0	0	1	2583	767	27	1		1	CAD	2	27454442	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4616	27454442	215744931	2195	4341											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	308					0	0	1	0	0	T	27455960	C	T	27455960	2	4	22	1	0	0	0	0	0	0	0	1	2583	639	23	1		1	CAD	2	27455960	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1518	27455960	215743413	2196	4342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	353					9.61239e-26	1.10474e-25	1	1	0	A	27456554	C	A	27456554	3	1	22	1	0	0	0	0	1	0	0	0	2583	796	28	2	3359	2	CAD	2	27456554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	594	27456554	215742819	2197	4343											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	409					0	0	1	0	0	G	27460626	T	G	27460626	3	3	22	1	0	0	0	0	1	0	0	0	2583	1609	56	3	4718	3	CAD	2	27460626	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4072	27460626	215738747	2198	4344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	245					0	0	1	0	0	C	27464813	G	C	27464813	3	2	22	1	0	0	0	0	1	0	0	0	2583	971	34	5	6072	5	CAD	2	27464813	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4187	27464813	215734560	2199	4345											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	266					0	0	1	0	0	T	27464907	C	T	27464907	2	4	22	1	0	0	0	0	0	0	0	1	2583	755	27	1		1	CAD	2	27464907	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94	27464907	215734466	2200	4346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	153					2.02627e-32	2.39265e-32	1	1	0	A	27479733	C	A	27479733	3	1	22	1	0	0	0	0	1	0	0	0	14611	797	28	2	372	2	SLC30A3	2	27479733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14826	27479733	215719640	2201	4347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	142					0	0	1	0	0	T	27480182	C	T	27480182	3	4	22	1	0	0	0	0	1	0	0	0	14611	797	28	2	565	2	SLC30A3	2	27480182	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	449	27480182	215719191	2202	4348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404433.1_Intron|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.A41T	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													148	387					0	0	1	0	0	A	27500629	G	A	27500629	3	1	22	1	0	0	0	0	1	0	0	0	4679	1087	38	1	127	1	DNAJC5G	2	27500629	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20447	27500629	215698744	2203	4349											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27528685G>T	ENST00000296098.4	+	6	1239	c.969_splice	c.e6+1	p.Q323_splice	TRIM54_ENST00000380075.2_Splice_Site_p.Q281_splice	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													8	56					1.76689e-08	1.84553e-08	1	1	0	T	27528685	G	T	27528685	5	4	22	1	0	0	0	0	0	0	1	0	16589	1014	35	2	991	2	TRIM54	2	27528685	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28056	27528685	215670688	2204	4350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	309					0	0	1	0	0	T	27551397	C	T	27551397	3	4	22	1	0	0	0	0	1	0	0	0	6914	710	25	2	557	2	GTF3C2	2	27551397	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22712	27551397	215647976	2205	4351											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	GTF3C2_ENST00000264720.3_Missense_Mutation_p.A199V|AC109828.1_ENST00000590383.1_RNA			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													75	179					0	0	1	0	0	A	27565074	G	A	27565074	3	1	22	1	0	0	0	0	1	0	0	0	6914	971	34	2	2203	2	GTF3C2	2	27565074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13677	27565074	215634299	2206	4352											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543024.1_Missense_Mutation_p.S81N|SNX17_ENST00000537606.1_Missense_Mutation_p.S270N|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													112	582					0	0	1	0	0	A	27598482	G	A	27598482	3	1	22	1	0	0	0	0	1	0	0	0	14942	1029	36	2	922	2	SNX17	2	27598482	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33408	27598482	215600891	2207	4353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													227	620					0	0	1	0	0	T	27605361	A	T	27605361	3	4	22	1	0	0	0	0	1	0	0	0	12389	101	4	5	339	5	PPM1G	2	27605361	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6879	27605361	215594012	2208	4354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	241					0	0	1	0	0	A	27659651	G	A	27659651	2	1	22	1	0	0	0	0	0	0	0	1	10690	933	33	2		2	NRBP1	2	27659651	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54290	27659651	215539722	2209	4355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													203	635					0	0	1	0	0	T	27664444	C	T	27664444	2	4	22	1	0	0	0	0	0	0	0	1	10690	845	30	2		2	NRBP1	2	27664444	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4793	27664444	215534929	2210	4356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	248					1.15062e-32	1.35981e-32	1	1	0	A	27670790	C	A	27670790	5	1	22	1	0	0	0	0	0	0	1	0	7601	927	32	2	853	2	IFT172	2	27670790	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6346	27670790	215528583	2211	4357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													157	790					1.27947e-65	1.61794e-65	1	1	0	T	27677000	G	T	27677000	3	4	22	1	0	0	0	0	1	0	0	0	7601	971	34	2	1753	2	IFT172	2	27677000	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6210	27677000	215522373	2212	4358											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	346					0	0	1	0	0	C	27680845	T	C	27680845	5	2	22	1	0	0	0	0	0	0	1	0	7601	1594	55	3	2359	3	IFT172	2	27680845	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3845	27680845	215518528	2213	4359											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	193					0	0	1	0	0	T	27684682	C	T	27684682	3	4	22	1	0	0	0	0	1	0	0	0	7601	623	22	2	3224	2	IFT172	2	27684682	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3837	27684682	215514691	2214	4360											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	333					0	0	1	0	0	T	27728602	C	T	27728602	2	4	22	1	0	0	0	0	0	0	0	1	6334	784	28	2		2	GCKR	2	27728602	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43920	27728602	215470771	2215	4361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	280					1.3268e-25	1.5239e-25	1	1	0	A	27729396	C	A	27729396	2	1	22	1	0	0	0	0	0	0	0	1	6334	668	24	2		2	GCKR	2	27729396	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	794	27729396	215469977	2216	4362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	163					0	0	1	0	0	G	27730853	C	G	27730853	3	3	22	1	0	0	0	0	1	0	0	0	6334	536	19	5	1308	5	GCKR	2	27730853	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1457	27730853	215468520	2217	4363											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	474					0	0	1	0	0	A	27801528	G	A	27801528	3	1	22	1	0	0	0	0	1	0	0	0	2171	1029	36	2	2091	2	C2orf16	2	27801528	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70675	27801528	215397845	2218	4364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	1114					2.47316e-13	2.66891e-13	1	1	0	T	27801881	G	T	27801881	3	4	22	1	0	0	0	0	1	0	0	0	2171	933	33	2	2444	2	C2orf16	2	27801881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	353	27801881	215397492	2219	4365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													189	467					0	0	1	0	0	A	27802900	G	A	27802900	3	1	22	1	0	0	0	0	1	0	0	0	2171	1087	38	1	3463	1	C2orf16	2	27802900	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1019	27802900	215396473	2220	4366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													137	649					0	0	1	0	0	A	27803149	G	A	27803149	3	1	22	1	0	0	0	0	1	0	0	0	2171	1087	38	1	3712	1	C2orf16	2	27803149	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249	27803149	215396224	2221	4367											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	567					0	0	1	0	0	A	27803687	G	A	27803687	2	1	22	1	0	0	0	0	0	0	0	1	2171	1074	38	1		1	C2orf16	2	27803687	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	538	27803687	215395686	2222	4368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													387	1050					0	0	1	0	0	A	27804403	G	A	27804403	3	1	22	1	0	0	0	0	1	0	0	0	2171	1087	38	1	4966	1	C2orf16	2	27804403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	716	27804403	215394970	2223	4369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461249.1_3'UTR|GPN1_ENST00000424214.1_Missense_Mutation_p.S79L|GPN1_ENST00000407583.3_Missense_Mutation_p.S146L|GPN1_ENST00000515877.1_Missense_Mutation_p.S79L|GPN1_ENST00000503738.1_Missense_Mutation_p.S63L|GPN1_ENST00000458167.2_Missense_Mutation_p.S63L	NM_007266.3	NP_009197.2	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													87	446					0	0	1	0	0	T	27858050	C	T	27858050	3	4	22	1	0	0	0	0	1	0	0	0	6657	893	31	1	624	1	GPN1	2	27858050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53647	27858050	215341323	2224	4370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	589					3.18938e-35	3.80496e-35	1	1	0	A	27886811	C	A	27886811	2	1	22	1	0	0	0	0	0	0	0	1	14708	610	22	2		2	SLC4A1AP	2	27886811	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28761	27886811	215312562	2225	4371											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	309					0	0	1	0	0	A	28050516	G	A	28050516	3	1	22	1	0	0	0	0	1	0	0	0	13160	971	34	2	263	2	RBKS	2	28050516	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163705	28050516	215148857	2226	4372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	306					0	0	1	0	0	T	28081321	C	T	28081321	2	4	22	1	0	0	0	0	0	0	0	1	13160	523	19	1		1	RBKS	2	28081321	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30805	28081321	215118052	2227	4373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264716.4_Splice_Site|FOSL2_ENST00000545753.1_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													8	335					0.000157383	0.000159814	1	1	0	T	28634796	G	T	28634796	3	4	22	1	0	0	0	0	1	0	0	0	6021	1014	35	2	476	2	FOSL2	2	28634796	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	553475	28634796	214564577	2228	4374											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379619.1_Missense_Mutation_p.K214N|FOSL2_ENST00000545753.1_Missense_Mutation_p.K183N	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													76	412					0	0	1	0	0	T	28635000	A	T	28635000	3	4	22	1	0	0	0	0	1	0	0	0	6021	40	2	5	680	5	FOSL2	2	28635000	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	204	28635000	214564373	2229	4375											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	227					0	0	1	0	0	A	28748771	G	A	28748771	5	1	22	1	0	0	0	0	0	0	1	0	12072	1014	35	2	306	2	PLB1	2	28748771	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113771	28748771	214450602	2230	4376											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	332					4.78148e-37	5.73669e-37	1	1	0	T	29004680	G	T	29004680	2	4	22	1	0	0	0	0	0	0	0	1	12399	1335	47	2		2	PPP1CB	2	29004680	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	255909	29004680	214194693	2231	4377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													132	744					2.13359e-52	2.6535e-52	1	1	0	T	29092543	G	T	29092543	3	4	22	1	0	0	0	0	1	0	0	0	16631	1020	36	2	860	2	TRMT61B	2	29092543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87863	29092543	214106830	2232	4378											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	246					1.91693e-13	2.0699e-13	1	1	0	A	29092664	C	A	29092664	3	1	22	1	0	0	0	0	1	0	0	0	16631	912	32	2	981	2	TRMT61B	2	29092664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121	29092664	214106709	2233	4379											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	179					3.63617e-18	4.02878e-18	1	1	0	T	29093040	G	T	29093040	3	4	22	1	0	0	0	0	1	0	0	0	16631	971	34	2	1357	2	TRMT61B	2	29093040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	376	29093040	214106333	2234	4380											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	263					0	0	1	0	0	A	29135533	G	A	29135533	3	1	22	1	0	0	0	0	1	0	0	0	17355	1058	37	1	577	1	WDR43	2	29135533	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42493	29135533	214063840	2235	4381											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	141					0	0	1	0	0	T	29152515	C	T	29152515	3	4	22	1	0	0	0	0	1	0	0	0	17355	536	19	1	1418	1	WDR43	2	29152515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16982	29152515	214046858	2236	4382											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	35					0	0	1	0	0	A	29258407	G	A	29258407	3	1	22	1	0	0	0	0	1	0	0	0	5535	1116	39	1	2365	1	FAM179A	2	29258407	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105892	29258407	213940966	2237	4383											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	231					0	0	1	0	0	A	29259479	G	A	29259479	3	1	22	1	0	0	0	0	1	0	0	0	5535	1087	38	1	2557	1	FAM179A	2	29259479	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1072	29259479	213939894	2238	4384											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	306					2.48254e-18	2.75398e-18	1	1	0	T	29293566	G	T	29293566	3	4	22	1	0	0	0	0	1	0	0	0	2205	1203	42	2	312	2	C2orf71	2	29293566	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34087	29293566	213905807	2239	4385											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404424.1_Missense_Mutation_p.A140T|CLIP4_ENST00000401605.1_Missense_Mutation_p.A140T|CLIP4_ENST00000401617.2_Missense_Mutation_p.A33T	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													9	268					0	0	1	0	0	A	29356571	G	A	29356571	3	1	22	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	2240	4386											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000401617.2_Missense_Mutation_p.R487I|CLIP4_ENST00000401605.1_Missense_Mutation_p.R594I|CLIP4_ENST00000404424.1_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													35	255					3.86903e-22	4.37239e-22	1	1	0	T	29397296	G	T	29397296	3	4	22	1	0	0	0	0	1	0	0	0	3558	942	33	2	1835	2	CLIP4	2	29397296	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40725	29397296	213802077	2241	4387											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				90	218					0	0	1	0	0	T	30142927	C	T	30142927	3	4	22	1	0	0	0	0	1	0	0	0	521	913	32	2	4379	2	ALK	2	30142927	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	745631	30142927	213056446	2242	4388											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467242.1_3'UTR|LBH_ENST00000404397.1_Intron|LBH_ENST00000406087.1_3'UTR|LBH_ENST00000401506.1_Missense_Mutation_p.E103D|LBH_ENST00000407930.2_Missense_Mutation_p.E80D	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													36	217					2.09667e-21	2.36065e-21	1	1	0	T	30480460	G	T	30480460	3	4	22	1	0	0	0	0	1	0	0	0	8689	933	33	2	301	2	LBH	2	30480460	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	337533	30480460	212718913	2243	4389											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540623.1_Missense_Mutation_p.R86Q|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Missense_Mutation_p.R86Q|LCLAT1_ENST00000319406.4_Missense_Mutation_p.R124Q|LCLAT1_ENST00000359433.1_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													192	840					0	0	1	0	0	A	30756073	G	A	30756073	3	1	22	1	0	0	0	0	1	0	0	0	8716	1116	39	1	381	1	LCLAT1	2	30756073	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275613	30756073	212443300	2244	4390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	57					0	0	1	0	0	G	31010077	T	G	31010077	3	3	22	1	0	0	0	0	1	0	0	0	2644	1667	58	3	1978	3	CAPN13	2	31010077	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	254004	31010077	212189296	2245	4391											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													149	426					0	0	1	0	0	A	31457609	G	A	31457609	3	1	22	1	0	0	0	0	1	0	0	0	5005	1087	38	1	124	1	EHD3	2	31457609	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	447532	31457609	211741764	2246	4392											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	186					0	0	1	0	0	A	31467303	G	A	31467303	3	1	22	1	0	0	0	0	1	0	0	0	5005	1087	38	1	397	1	EHD3	2	31467303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9694	31467303	211732070	2247	4393											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	202					0	0	1	0	0	C	31483495	A	C	31483495	3	2	22	1	0	0	0	0	1	0	0	0	5005	131	5	3	636	3	EHD3	2	31483495	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16192	31483495	211715878	2248	4394											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	567					0	0	1	0	0	C	31483688	A	C	31483688	3	2	22	1	0	0	0	0	1	0	0	0	5005	304	11	3	829	3	EHD3	2	31483688	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	193	31483688	211715685	2249	4395											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													149	478					0	0	1	0	0	A	31484505	G	A	31484505	3	1	22	1	0	0	0	0	1	0	0	0	5005	1203	42	2	1024	2	EHD3	2	31484505	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	817	31484505	211714868	2250	4396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	185					0	0	1	0	0	T	31489251	C	T	31489251	3	4	22	1	0	0	0	0	1	0	0	0	5005	797	28	2	1311	2	EHD3	2	31489251	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4746	31489251	211710122	2251	4397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	351					0	0	1	0	0	A	31560588	G	A	31560588	2	1	22	1	0	0	0	0	0	0	0	1	17486	1136	40	1		1	XDH	2	31560588	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71337	31560588	211638785	2252	4398											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													124	377					0	0	1	0	0	A	31570487	G	A	31570487	2	1	22	1	0	0	0	0	0	0	0	1	17486	987	35	2		2	XDH	2	31570487	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9899	31570487	211628886	2253	4399											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	161					0	0	1	0	0	T	31571782	C	T	31571782	3	4	22	1	0	0	0	0	1	0	0	0	17486	565	20	2	1007	2	XDH	2	31571782	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1295	31571782	211627591	2254	4400											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	441					0	0	1	0	0	T	31573079	C	T	31573079	3	4	22	1	0	0	0	0	1	0	0	0	17486	884	31	1	1407	1	XDH	2	31573079	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1297	31573079	211626294	2255	4401											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	479					0	0	1	0	0	T	31588402	C	T	31588402	3	4	22	1	0	0	0	0	1	0	0	0	17486	768	27	1	1592	1	XDH	2	31588402	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15323	31588402	211610971	2256	4402											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	143					0	0	1	0	0	G	31593326	T	G	31593326	3	3	22	1	0	0	0	0	1	0	0	0	17486	1606	56	3	2202	3	XDH	2	31593326	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4924	31593326	211606047	2257	4403											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	264					0	0	1	0	0	G	31624144	A	G	31624144	3	3	22	1	0	0	0	0	1	0	0	0	17486	43	2	3	3885	3	XDH	2	31624144	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30818	31624144	211575229	2258	4404											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	150					0	0	1	0	0	A	31805971	G	A	31805971	1	1	22	0	1	0	0	0	0	0	0	0	15195	1102	38	1		1	SRD5A2	2	31805971	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181827	31805971	211393402	2259	4405											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	94					0	0	1	0	0	A	31806019	G	A	31806019	1	1	22	0	1	0	0	0	0	0	0	0	15195	1218	42	2		2	SRD5A2	2	31806019	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	31806019	211393354	2260	4406											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360906.5_Nonsense_Mutation_p.E574*|NLRC4_ENST00000342905.6_Intron			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													69	417					2.02627e-32	2.39265e-32	1	1	0	A	32475213	C	A	32475213	4	1	22	1	0	0	0	0	0	1	0	0	10516	922	32	2	1378	2	NLRC4	2	32475213	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	669194	32475213	210724160	2261	4407											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360906.5_Nonsense_Mutation_p.E260*|NLRC4_ENST00000342905.6_Intron			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													50	626					7.77372e-23	8.81276e-23	1	1	0	A	32476155	C	A	32476155	4	1	22	1	0	0	0	0	0	1	0	0	10516	922	32	2	2320	2	NLRC4	2	32476155	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	942	32476155	210723218	2262	4408											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360906.5_Missense_Mutation_p.E95K|NLRC4_ENST00000342905.6_Intron			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													20	487					0	0	1	0	0	T	32476650	C	T	32476650	3	4	22	1	0	0	0	0	1	0	0	0	10516	922	32	2	2815	2	NLRC4	2	32476650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	495	32476650	210722723	2263	4409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_057336.3	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													18	332					1.2644e-06	1.30616e-06	1	1	0	T	32673919	G	T	32673919	3	4	22	1	0	0	0	0	1	0	0	0	1437	1203	42	2	4627	2	BIRC6	2	32673919	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	197269	32673919	210525454	2264	4410											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_057336.3	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													67	188					0	0	1	0	0	A	32673997	G	A	32673997	5	1	22	1	0	0	0	0	0	0	1	0	1437	1275	44	2	4705	2	BIRC6	2	32673997	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78	32673997	210525376	2265	4411											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_057336.3	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													116	346					0	0	1	0	0	A	32702455	G	A	32702455	3	1	22	1	0	0	0	0	1	0	0	0	1437	1145	40	1	7010	1	BIRC6	2	32702455	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28458	32702455	210496918	2266	4412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_057336.3	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													55	350					0	0	1	0	0	A	32740700	G	A	32740700	3	1	22	1	0	0	0	0	1	0	0	0	1437	1319	46	2	11430	2	BIRC6	2	32740700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38245	32740700	210458673	2267	4413											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	228					0	0	1	0	0	T	33036232	C	T	33036232	2	4	22	1	0	0	0	0	0	0	0	1	16757	796	28	2		2	TTC27	2	33036232	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	295532	33036232	210163141	2268	4414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000402538.3_Silent_p.A543A	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													23	89					3.62473e-10	3.83521e-10	1	1	0	A	33783327	C	A	33783327	2	1	22	1	0	0	0	0	0	0	0	1	13128	668	24	2		2	RASGRP3	2	33783327	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	747095	33783327	209416046	2269	4415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000402538.3_Missense_Mutation_p.R599H	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													15	324					0	0	1	0	0	A	33783829	G	A	33783829	3	1	22	1	0	0	0	0	1	0	0	0	13128	1087	38	1	1854	1	RASGRP3	2	33783829	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	502	33783829	209415544	2270	4416											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													152	810					0	0	1	0	0	T	36691752	C	T	36691752	2	4	22	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	2271	4417											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	347					0	0	1	0	0	T	36704168	C	T	36704168	2	4	22	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	2272	4418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	355					0	0	1	0	0	T	36771593	C	T	36771593	3	4	22	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	2273	4419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000497382.1_5'UTR|VIT_ENST00000457137.2_Missense_Mutation_p.F133C|VIT_ENST00000379241.3_Missense_Mutation_p.F133C|VIT_ENST00000404084.1_Missense_Mutation_p.F111C|VIT_ENST00000389975.3_Missense_Mutation_p.F133C|VIT_ENST00000401530.1_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													46	222					0	0	1	0	0	G	36982186	T	G	36982186	3	3	22	1	0	0	0	0	1	0	0	0	17231	1841	64	3	412	3	VIT	2	36982186	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	210593	36982186	206217187	2274	4420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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|VIT_ENST00000401530.1_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													44	174					2.45108e-15	2.67628e-15	1	1	0	A	36994315	C	A	36994315	3	1	22	1	0	0	0	0	1	0	0	0	17231	797	28	2	713	2	VIT	2	36994315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12129	36994315	206205058	2275	4421											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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|VIT_ENST00000401530.1_Missense_Mutation_p.S483I	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													103	327					3.46703e-50	4.29469e-50	1	1	0	T	37035781	G	T	37035781	3	4	22	1	0	0	0	0	1	0	0	0	17231	971	34	2	1735	2	VIT	2	37035781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41466	37035781	206163592	2276	4422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	204					0	0	1	0	0	T	37082439	C	T	37082439	3	4	22	1	0	0	0	0	1	0	0	0	15385	797	28	2	464	2	STRN	2	37082439	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46658	37082439	206116934	2277	4423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	358					0	0	1	0	0	C	37208886	T	C	37208886	3	2	22	1	0	0	0	0	1	0	0	0	7073	1435	50	3	256	3	HEATR5B	2	37208886	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	126447	37208886	205990487	2278	4424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	320					0	0	1	0	0	G	37215952	A	G	37215952	2	3	22	1	0	0	0	0	0	0	0	1	7073	330	12	3		3	HEATR5B	2	37215952	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7066	37215952	205983421	2279	4425											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	349					0	0	1	0	0	T	37232786	C	T	37232786	3	4	22	1	0	0	0	0	1	0	0	0	7073	710	25	2	1349	2	HEATR5B	2	37232786	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16834	37232786	205966587	2280	4426											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													132	408					0	0	1	0	0	G	37268381	A	G	37268381	2	3	22	1	0	0	0	0	0	0	0	1	7073	30	2	3		3	HEATR5B	2	37268381	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35595	37268381	205930992	2281	4427											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													144	441					0	0	1	0	0	C	37283632	A	C	37283632	3	2	22	1	0	0	0	0	1	0	0	0	7073	246	9	3	3949	3	HEATR5B	2	37283632	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15251	37283632	205915741	2282	4428											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	196					0	0	1	0	0	T	37286131	C	T	37286131	5	4	22	1	0	0	0	0	0	0	1	0	7073	811	28	2	4462	2	HEATR5B	2	37286131	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2499	37286131	205913242	2283	4429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	132					0	0	1	0	0	G	37296066	A	G	37296066	3	3	22	1	0	0	0	0	1	0	0	0	7073	43	2	3	5396	3	HEATR5B	2	37296066	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9935	37296066	205903307	2284	4430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	321					2.73361e-28	3.17826e-28	1	1	0	A	37365484	C	A	37365484	3	1	22	1	0	0	0	0	1	0	0	0	5023	681	24	2	1079	2	EIF2AK2	2	37365484	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69418	37365484	205833889	2285	4431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379149.2_Intron|SULT6B1_ENST00000407963.1_Missense_Mutation_p.K85T|SULT6B1_ENST00000260637.3_Missense_Mutation_p.K85T			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													146	340					0	0	1	0	0	G	37410602	T	G	37410602	3	3	22	1	0	0	0	0	1	0	0	0	15440	1841	64	3	563	3	SULT6B1	2	37410602	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	45118	37410602	205788771	2286	4432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379149.2_Silent_p.T50T|SULT6B1_ENST00000407963.1_Silent_p.T12T|SULT6B1_ENST00000260637.3_Silent_p.T12T			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													13	536					1.49906e-05	1.53515e-05	1	1	0	T	37415634	G	T	37415634	2	4	22	1	0	0	0	0	0	0	0	1	15440	987	35	2		2	SULT6B1	2	37415634	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5032	37415634	205783739	2287	4433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													181	508					0	0	1	0	0	A	37454709	G	A	37454709	4	1	22	1	0	0	0	0	0	1	0	0	3226	1066	37	1	1597	1	CEBPZ	2	37454709	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39075	37454709	205744664	2288	4434											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	521					1.43872e-54	1.79623e-54	1	1	0	T	37454764	G	T	37454764	2	4	22	1	0	0	0	0	0	0	0	1	3226	1161	41	2		2	CEBPZ	2	37454764	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55	37454764	205744609	2289	4435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	325					0	0	1	0	0	A	37509721	G	A	37509721	3	1	22	1	0	0	0	0	1	0	0	0	12572	1261	44	2	1772	2	PRKD3	2	37509721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54957	37509721	205689652	2290	4436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	316					0	0	1	0	0	T	37509738	C	T	37509738	3	4	22	1	0	0	0	0	1	0	0	0	12572	768	27	1	1789	1	PRKD3	2	37509738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17	37509738	205689635	2291	4437											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	315					3.86361e-14	4.18898e-14	1	1	0	T	37520372	G	T	37520372	3	4	22	1	0	0	0	0	1	0	0	0	12572	942	33	2	2409	2	PRKD3	2	37520372	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10634	37520372	205679001	2292	4438											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	338					0	0	1	0	0	A	37586768	G	A	37586768	3	1	22	1	0	0	0	0	1	0	0	0	12926	1175	41	2	323	2	QPCT	2	37586768	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66396	37586768	205612605	2293	4439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407341.1_Silent_p.D455D|CYP1B1_ENST00000494864.1_5'UTR	NM_000104.3	NP_000095.2	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													58	272					0	0	1	0	0	A	38298132	G	A	38298132	2	1	22	1	0	0	0	0	0	0	0	1	4174	1252	44	2		2	CYP1B1	2	38298132	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	711364	38298132	204901241	2294	4440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407341.1_Missense_Mutation_p.S393I|CYP1B1_ENST00000494864.1_5'UTR	NM_000104.3	NP_000095.2	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													66	190					9.5628e-27	1.10398e-26	1	1	0	A	38298319	C	A	38298319	3	1	22	1	0	0	0	0	1	0	0	0	4174	797	28	2	457	2	CYP1B1	2	38298319	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187	38298319	204901054	2295	4441											
GALM	130589	broad.mit.edu	37	chr2	38956827	38956828	+	Frame_Shift_Ins	INS	-	-	T													aagggatctaaagaaaagcaINStttttgtgcaaggtcaggta							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38956827_38956828insT	ENST00000272252.5	+	5	1016_1017	c.764_765insT	c.(763-765)cttfs	p.L255fs	GALM_ENST00000410063.1_Frame_Shift_Ins_p.L107fs	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	255					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				AAAGAAAAGCATTTTTGTGCAA	0.426													8	732	---	---	---	---						T	38956828	-	T	38956827	7	5	22	1	0	1	1	0	0	0	0	0	6245	217	8	0	782	0	GALM	2	38956827	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	658508	38956827	204242546	2296	4442											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39008821G>T	ENST00000281950.2	+	3	407	c.291G>T	c.(289-291)gaG>gaT	p.E97D	GEMIN6_ENST00000409011.1_3'UTR|GEMIN6_ENST00000409566.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6	97					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													9	306					0.00448238	0.00451339	1	1	0	T	39008821	G	T	39008821	3	4	22	1	0	0	0	0	1	0	0	0	6374	991	35	2	297	2	GEMIN6	2	39008821	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51994	39008821	204190552	2297	4443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	622					0	0	1	0	0	A	39030003	G	A	39030003	4	1	22	1	0	0	0	0	0	1	0	0	4541	1066	37	1	297	1	DHX57	2	39030003	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21182	39030003	204169370	2298	4444											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	477					0	0	1	0	0	G	39033740	A	G	39033740	2	3	22	1	0	0	0	0	0	0	0	1	4541	214	8	3		3	DHX57	2	39033740	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3737	39033740	204165633	2299	4445											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	315					0	0	1	0	0	A	39053104	G	A	39053104	3	1	22	1	0	0	0	0	1	0	0	0	4541	1116	39	1	1297	1	DHX57	2	39053104	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19364	39053104	204146269	2300	4446											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													202	604					2.09317e-103	2.69287e-103	1	1	0	T	39082360	G	T	39082360	3	4	22	1	0	0	0	0	1	0	0	0	4541	933	33	2	2484	2	DHX57	2	39082360	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29256	39082360	204117013	2301	4447											
DHX57	90957	broad.mit.edu	37	chr2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-													cctttctgttgccgccacctCcaccaccaccaccaccgcca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)gga>gg	p.GG47del		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	47	Gly-rich.						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)				Gccgccacctccaccaccaccac	0.532													8	683	---	---	---	---						-	39095413	CCA	-	39095411	7	5	22	1	0	1	0	1	0	0	0	0	4541	855	30	0	4115	0	DHX57	2	39095411	In_Frame_Del	DEL	CCA	TCGA-IB-7651-01A-11D-2154-08	13051	39095411	204103962	2302	4448											
DHX57	90957	broad.mit.edu	37	chr2	39095428	39095428	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccaccaccaccaccaccGccaccgccaccactcccatg	3	26	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39095428G>A	ENST00000295373.6	-	2	246	c.120C>T	c.(118-120)ggC>ggT	p.G40G		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	40	Gly-rich.						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)				caccaccaccgccaccgccac	0.542													93	578					0	0	1	0	0	A	39095428	G	A	39095428	2	1	22	1	0	0	0	0	0	0	0	1	4541	1074	38	1		1	DHX57	2	39095428	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	39095428	204103945	2303	4449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402219.2_Missense_Mutation_p.L554F|SOS1_ENST00000395038.2_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				139	398					0	0	1	0	0	A	39249909	G	A	39249909	3	1	22	1	0	0	0	0	1	0	0	0	14990	971	34	2	2397	2	SOS1	2	39249909	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154481	39249909	203949464	2304	4450											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428721.2_Missense_Mutation_p.I53N|SOS1_ENST00000402219.2_Missense_Mutation_p.I110N|SOS1_ENST00000395038.2_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				104	530					0	0	1	0	0	T	39285830	A	T	39285830	3	4	22	1	0	0	0	0	1	0	0	0	14990	101	4	5	3756	5	SOS1	2	39285830	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35921	39285830	203913543	2305	4451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	624					0	0	1	0	0	A	39406330	G	A	39406330	4	1	22	1	0	0	0	0	0	1	0	0	3178	1386	48	2	26	2	CDKL4	2	39406330	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120500	39406330	203793043	2306	4452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	401					0	0	1	0	0	T	39440588	C	T	39440588	3	4	22	1	0	0	0	0	1	0	0	0	3178	536	19	1	655	1	CDKL4	2	39440588	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34258	39440588	203758785	2307	4453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536018.1_Missense_Mutation_p.C229Y|MAP4K3_ENST00000437545.1_Missense_Mutation_p.C592Y|MAP4K3_ENST00000341681.5_Missense_Mutation_p.C655Y	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													13	515					0	0	1	0	0	T	39494335	C	T	39494335	3	4	22	1	0	0	0	0	1	0	0	0	9311	478	17	2	689	2	MAP4K3	2	39494335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53747	39494335	203705038	2308	4454											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437545.1_5'UTR|MAP4K3_ENST00000341681.5_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													90	496					3.05217e-42	3.71447e-42	1	1	0	A	39583458	C	A	39583458	3	1	22	1	0	0	0	0	1	0	0	0	9311	796	28	2	2635	2	MAP4K3	2	39583458	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89123	39583458	203615915	2309	4455											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:40655686C>A	ENST00000406785.1	-	2	1924	c.1735G>T	c.(1735-1737)Ggg>Tgg	p.G579W	SLC8A1_ENST00000402441.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G579W|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G579W|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G579W|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000403092.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G579W			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	579	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													10	497					7.48243e-07	7.73841e-07	1	1	0	A	40655686	C	A	40655686	3	1	22	1	0	0	0	0	1	0	0	0	14761	681	24	2	1334	2	SLC8A1	2	40655686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1072228	40655686	202543687	2310	4456											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402711.2_Missense_Mutation_p.V285I|EML4_ENST00000401738.3_Missense_Mutation_p.V354I	NM_019063.3	NP_061936.2	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								94	261					0	0	1	0	0	A	42513424	G	A	42513424	3	1	22	1	0	0	0	0	1	0	0	0	5127	1145	40	1	1065	1	EML4	2	42513424	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1857738	42513424	200685949	2311	4457											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	77					0	0	1	0	0	T	42720251	C	T	42720251	3	4	22	1	0	0	0	0	1	0	0	0	8073	893	31	1	927	1	KCNG3	2	42720251	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206827	42720251	200479122	2312	4458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	40					3.51602e-12	3.76992e-12	1	1	0	T	42720563	G	T	42720563	3	4	22	1	0	0	0	0	1	0	0	0	8073	962	34	2	1239	2	KCNG3	2	42720563	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	312	42720563	200478810	2313	4459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	439					0	0	1	0	0	T	43015685	A	T	43015685	3	4	22	1	0	0	0	0	1	0	0	0	6978	333	12	5	753	5	HAAO	2	43015685	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	295122	43015685	200183688	2314	4460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	43					0	0	1	0	0	A	43451467	G	A	43451467	2	1	22	1	0	0	0	0	0	0	0	1	17705	1103	39	1		1	ZFP36L2	2	43451467	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	435782	43451467	199747906	2315	4461											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	37					0	0	1	0	0	G	43453409	A	G	43453409	3	3	22	1	0	0	0	0	1	0	0	0	17705	159	6	3	1446	3	ZFP36L2	2	43453409	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1942	43453409	199745964	2316	4462											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405975.2_Missense_Mutation_p.F1373C|THADA_ENST00000485353.1_5'UTR|THADA_ENST00000415080.2_Missense_Mutation_p.F1054C|THADA_ENST00000330266.7_Intron	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													133	396					0	0	1	0	0	C	43625219	A	C	43625219	3	2	22	1	0	0	0	0	1	0	0	0	15900	14	1	3	1783	3	THADA	2	43625219	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	171810	43625219	199574154	2317	4463											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405975.2_Missense_Mutation_p.L1050M|THADA_ENST00000415080.2_Missense_Mutation_p.L760M|THADA_ENST00000330266.7_Missense_Mutation_p.L760M	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													148	971					2.36156e-58	2.96174e-58	1	1	0	T	43768414	G	T	43768414	3	4	22	1	0	0	0	0	1	0	0	0	15900	962	34	2	2785	2	THADA	2	43768414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143195	43768414	199430959	2318	4464											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404790.1_Missense_Mutation_p.V565I|THADA_ENST00000405975.2_Missense_Mutation_p.V565I|THADA_ENST00000405006.4_Missense_Mutation_p.V565I|THADA_ENST00000415080.2_Missense_Mutation_p.V275I|THADA_ENST00000330266.7_Missense_Mutation_p.V275I			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													14	53					0	0	1	0	0	T	43801511	C	T	43801511	3	4	22	1	0	0	0	0	1	0	0	0	15900	507	18	2	4280	2	THADA	2	43801511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33097	43801511	199397862	2319	4465											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404790.1_Silent_p.Q248Q|THADA_ENST00000405975.2_Silent_p.Q248Q|THADA_ENST00000405006.4_Silent_p.Q248Q|THADA_ENST00000415080.2_5'UTR			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													45	174					0	0	1	0	0	T	43805724	C	T	43805724	2	4	22	1	0	0	0	0	0	0	0	1	15900	912	32	2		2	THADA	2	43805724	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4213	43805724	199393649	2320	4466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404790.1_Missense_Mutation_p.R121H|THADA_ENST00000405975.2_Missense_Mutation_p.R121H|THADA_ENST00000405006.4_Missense_Mutation_p.R121H|THADA_ENST00000415080.2_5'UTR			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													22	155					0	0	1	0	0	T	43814082	C	T	43814082	3	4	22	1	0	0	0	0	1	0	0	0	15900	536	19	1	5635	1	THADA	2	43814082	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8358	43814082	199385291	2321	4467											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	47					0	0	1	0	0	G	43922354	A	G	43922354	3	3	22	1	0	0	0	0	1	0	0	0	12125	15	1	3	511	3	PLEKHH2	2	43922354	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	108272	43922354	199277019	2322	4468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	640					2.73218e-42	3.32585e-42	1	1	0	A	43924345	C	A	43924345	3	1	22	1	0	0	0	0	1	0	0	0	12125	564	20	2	560	2	PLEKHH2	2	43924345	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1991	43924345	199275028	2323	4469											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	492					0	0	1	0	0	G	43939382	A	G	43939382	3	3	22	1	0	0	0	0	1	0	0	0	12125	159	6	3	2374	3	PLEKHH2	2	43939382	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15037	43939382	199259991	2324	4470											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	290					0	0	1	0	0	A	43953531	G	A	43953531	3	1	22	1	0	0	0	0	1	0	0	0	12125	1145	40	1	2724	1	PLEKHH2	2	43953531	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14149	43953531	199245842	2325	4471											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													131	333					0	0	1	0	0	A	43965632	G	A	43965632	2	1	22	1	0	0	0	0	0	0	0	1	12125	962	34	2		2	PLEKHH2	2	43965632	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12101	43965632	199233741	2326	4472											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	424					0	0	1	0	0	T	43970029	C	T	43970029	3	4	22	1	0	0	0	0	1	0	0	0	12125	681	24	2	3453	2	PLEKHH2	2	43970029	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4397	43970029	199229344	2327	4473											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	137					0	0	1	0	0	A	43973084	G	A	43973084	3	1	22	1	0	0	0	0	1	0	0	0	12125	1145	40	1	3725	1	PLEKHH2	2	43973084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3055	43973084	199226289	2328	4474											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													153	697					0	0	1	0	0	A	44051455	T	A	44051455	3	1	22	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	2329	4475											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	294					0	0	1	0	0	G	44121724	A	G	44121724	2	3	22	1	0	0	0	0	0	0	0	1	9010	214	8	3		3	LRPPRC	2	44121724	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	70269	44121724	199077649	2330	4476											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	221					0	0	1	0	0	A	44132886	G	A	44132886	2	1	22	1	0	0	0	0	0	0	0	1	9010	1136	40	1		1	LRPPRC	2	44132886	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11162	44132886	199066487	2331	4477											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409387.1_Missense_Mutation_p.G23V|SLC3A1_ENST00000409229.3_Missense_Mutation_p.G23V|SLC3A1_ENST00000409741.1_Missense_Mutation_p.G23V|SLC3A1_ENST00000410056.3_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													30	122					2.68265e-12	2.87809e-12	1	1	0	T	44502742	G	T	44502742	3	4	22	1	0	0	0	0	1	0	0	0	14681	1232	43	2	70	2	SLC3A1	2	44502742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	369856	44502742	198696631	2332	4478											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409387.1_Missense_Mutation_p.D210N|SLC3A1_ENST00000409229.3_Missense_Mutation_p.D210N|SLC3A1_ENST00000409741.1_Missense_Mutation_p.D210N|SLC3A1_ENST00000410056.3_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													65	236					0	0	1	0	0	A	44508543	G	A	44508543	3	1	22	1	0	0	0	0	1	0	0	0	14681	1058	37	1	638	1	SLC3A1	2	44508543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5801	44508543	198690830	2333	4479											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409936.1_3'UTR|PREPL_ENST00000409957.1_3'UTR|SLC3A1_ENST00000409740.3_Missense_Mutation_p.R302Q|PREPL_ENST00000409411.1_3'UTR|SLC3A1_ENST00000409380.1_Missense_Mutation_p.R393Q|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													41	271					0	0	1	0	0	A	44547732	G	A	44547732	3	1	22	1	0	0	0	0	1	0	0	0	14681	1058	37	1	2050	1	SLC3A1	2	44547732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39189	44547732	198651641	2334	4480											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	182					0	0	1	0	0	T	45169609	C	T	45169609	2	4	22	1	0	0	0	0	0	0	0	1	14403	776	27	1		1	SIX3	2	45169609	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	621877	45169609	198029764	2335	4481											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	168					0	0	1	0	0	T	45169644	C	T	45169644	3	4	22	1	0	0	0	0	1	0	0	0	14403	768	27	1	403	1	SIX3	2	45169644	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	45169644	198029729	2336	4482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Missense_Mutation_p.L273M	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													179	455					5.15675e-95	6.62639e-95	1	1	0	T	45645577	G	T	45645577	3	4	22	1	0	0	0	0	1	0	0	0	15189	962	34	2	743	2	SRBD1	2	45645577	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	475933	45645577	197553796	2337	4483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	300					0	0	1	0	0	G	45715393	T	G	45715393	3	3	22	1	0	0	0	0	1	0	0	0	15189	1493	52	3	1063	3	SRBD1	2	45715393	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	69816	45715393	197483980	2338	4484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	311					0	0	1	0	0	T	46234679	C	T	46234679	3	4	22	1	0	0	0	0	1	0	0	0	12563	913	32	2	1176	2	PRKCE	2	46234679	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	519286	46234679	196964694	2339	4485											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	772					5.12507e-49	6.33484e-49	1	1	0	T	46603819	G	T	46603819	3	4	22	1	0	0	0	0	1	0	0	0	5178	962	34	2	1210	2	EPAS1	2	46603819	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	369140	46603819	196595554	2340	4486											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	18					0	0	1	0	0	A	46605085	G	A	46605085	2	1	22	1	0	0	0	0	0	0	0	1	5178	1045	37	1		1	EPAS1	2	46605085	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1266	46605085	196594288	2341	4487											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	387					0	0	1	0	0	G	46605830	A	G	46605830	3	3	22	1	0	0	0	0	1	0	0	0	5178	333	12	3	1520	3	EPAS1	2	46605830	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	745	46605830	196593543	2342	4488											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	701					1.78676e-68	2.26603e-68	1	1	0	T	46607801	G	T	46607801	3	4	22	1	0	0	0	0	1	0	0	0	5178	971	34	2	2036	2	EPAS1	2	46607801	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1971	46607801	196591572	2343	4489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	246					0	0	1	0	0	A	46608739	G	A	46608739	3	1	22	1	0	0	0	0	1	0	0	0	5178	1319	46	2	2100	2	EPAS1	2	46608739	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	938	46608739	196590634	2344	4490											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	178					0	0	1	0	0	G	46609140	A	G	46609140	2	3	22	1	0	0	0	0	0	0	0	1	5178	146	6	3		3	EPAS1	2	46609140	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	401	46609140	196590233	2345	4491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	341					0	0	1	0	0	T	46986474	C	T	46986474	3	4	22	1	0	0	0	0	1	0	0	0	14971	759	27	1	807	1	SOCS5	2	46986474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	377334	46986474	196212899	2346	4492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	687					0	0	1	0	0	T	46987060	C	T	46987060	3	4	22	1	0	0	0	0	1	0	0	0	14971	893	31	1	1393	1	SOCS5	2	46987060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	586	46987060	196212313	2347	4493											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394850.2_Missense_Mutation_p.K285N|TTC7A_ENST00000409245.1_Missense_Mutation_p.K251N|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_Intron	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													33	934					8.58068e-18	9.49213e-18	1	1	0	T	47221507	G	T	47221507	3	4	22	1	0	0	0	0	1	0	0	0	16774	962	34	2	881	2	TTC7A	2	47221507	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234447	47221507	195977866	2348	4494											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				63	371					2.40885e-21	2.71177e-21	1	1	0	T	47693796	G	T	47693796	5	4	22	1	0	0	0	0	0	0	1	0	9919	1014	35	2	1548	2	MSH2	2	47693796	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	472289	47693796	195505577	2349	4495											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48018178A>T	ENST00000234420.4	+	2	525	c.373A>T	c.(373-375)Aaa>Taa	p.K125*	MSH6_ENST00000538136.1_5'UTR|MSH6_ENST00000540021.1_Intron|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	125	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				148	379					0	0	1	0	0	T	48018178	A	T	48018178	4	4	22	1	0	0	0	0	0	1	0	0	9923	247	9	5	379	5	MSH6	2	48018178	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	324382	48018178	195181195	2350	4496											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48026622A>C	ENST00000234420.4	+	4	1652	c.1500A>C	c.(1498-1500)gcA>gcC	p.A500A	MSH6_ENST00000538136.1_Silent_p.A198A|MSH6_ENST00000540021.1_Silent_p.A370A|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	500					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				57	197					0	0	1	0	0	C	48026622	A	C	48026622	2	2	22	1	0	0	0	0	0	0	0	1	9923	146	6	3		3	MSH6	2	48026622	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8444	48026622	195172751	2351	4497											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48030670G>A	ENST00000234420.4	+	5	3436	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H	MSH6_ENST00000538136.1_Missense_Mutation_p.R793H|MSH6_ENST00000540021.1_Missense_Mutation_p.R965H|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1095			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				81	285					0	0	1	0	0	A	48030670	G	A	48030670	3	1	22	1	0	0	0	0	1	0	0	0	9923	1087	38	1	3302	1	MSH6	2	48030670	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4048	48030670	195168703	2352	4498											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48033396G>T	ENST00000234420.4	+	8	3852	c.3700G>T	c.(3700-3702)Gaa>Taa	p.E1234*	MSH6_ENST00000538136.1_Nonsense_Mutation_p.E932*|MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1104*|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1234			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				53	221					2.72333e-11	2.9033e-11	1	1	0	T	48033396	G	T	48033396	4	4	22	1	0	0	0	0	0	1	0	0	9923	943	33	2	3730	2	MSH6	2	48033396	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2726	48033396	195165977	2353	4499											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000316377.4_Missense_Mutation_p.F693L|FBXO11_ENST00000434523.2_Missense_Mutation_p.F201L	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								25	149					0	0	1	0	0	G	48037464	A	G	48037464	3	3	22	1	0	0	0	0	1	0	0	0	5760	101	4	3	474	3	FBXO11	2	48037464	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4068	48037464	195161909	2354	4500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.D199G|STON1_ENST00000404752.1_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.D199G|STON1_ENST00000406226.1_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													108	309					0	0	1	0	0	G	48808368	A	G	48808368	3	3	22	1	0	0	0	0	1	0	0	0	15372	275	10	3	598	3	STON1	2	48808368	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	770904	48808368	194391005	2355	4501											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E336D|STON1_ENST00000404752.1_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E336D|STON1_ENST00000406226.1_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													116	558					3.24416e-54	4.04889e-54	1	1	0	T	48808780	G	T	48808780	3	4	22	1	0	0	0	0	1	0	0	0	15372	933	33	2	1010	2	STON1	2	48808780	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	412	48808780	194390593	2356	4502											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-GTF2A1L_ENST00000394754.1_Silent_p.V632V|STON1-GTF2A1L_ENST00000309827.2_Silent_p.V632V|STON1-GTF2A1L_ENST00000405008.1_Silent_p.V632V|STON1_ENST00000404752.1_Silent_p.V632V|STON1-GTF2A1L_ENST00000402114.2_Silent_p.V632V|STON1_ENST00000406226.1_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													56	226					0	0	1	0	0	G	48809668	A	G	48809668	2	3	22	1	0	0	0	0	0	0	0	1	15372	436	16	3		3	STON1	2	48809668	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	888	48809668	194389705	2357	4503											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000403273.1_Missense_Mutation_p.V308L|LHCGR_ENST00000344775.3_Missense_Mutation_p.V246L|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													7	69					0.0477658	0.0478703	1	1	0	A	48921388	C	A	48921388	3	1	22	1	0	0	0	0	1	0	0	0	8802	565	20	2	1185	2	LHCGR	2	48921388	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111720	48921388	194277985	2358	4504											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346173.3_Intron|FSHR_ENST00000304421.4_Missense_Mutation_p.L218P|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000469138.1_5'UTR	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				6	320					0	0	1	0	0	G	49195960	A	G	49195960	3	3	22	1	0	0	0	0	1	0	0	0	6108	188	7	3	1364	3	FSHR	2	49195960	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	274572	49195960	194003413	2359	4505											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405472.3_Missense_Mutation_p.R1417W|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1417W|NRXN1_ENST00000406316.2_Missense_Mutation_p.R1395W|NRXN1_ENST00000401710.1_Missense_Mutation_p.R413W|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1395W|NRXN1_ENST00000342183.5_Missense_Mutation_p.R360W	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													45	243					0	0	1	0	0	A	50149333	G	A	50149333	3	1	22	1	0	0	0	0	1	0	0	0	10713	1115	39	1	254	1	NRXN1	2	50149333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	953373	50149333	193050040	2360	4506											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Silent_p.L842L|NRXN1_ENST00000405472.3_Silent_p.L834L|NRXN1_ENST00000402717.3_Silent_p.L834L|NRXN1_ENST00000406316.2_Silent_p.L842L|NRXN1_ENST00000406859.3_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													53	265					0	0	1	0	0	A	50724826	G	A	50724826	2	1	22	1	0	0	0	0	0	0	0	1	10713	962	34	2		2	NRXN1	2	50724826	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	575493	50724826	192474547	2361	4507											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405472.3_Missense_Mutation_p.V117M|NRXN1_ENST00000402717.3_Missense_Mutation_p.V117M|NRXN1_ENST00000406316.2_Missense_Mutation_p.V117M|NRXN1_ENST00000405581.1_Missense_Mutation_p.V117M|NRXN1_ENST00000406859.3_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													29	178					0	0	1	0	0	T	51255063	C	T	51255063	3	4	22	1	0	0	0	0	1	0	0	0	10713	536	19	1	4649	1	NRXN1	2	51255063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	530237	51255063	191944310	2362	4508											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405472.3_Silent_p.G38G|NRXN1_ENST00000402717.3_Silent_p.G38G|NRXN1_ENST00000406316.2_Silent_p.G38G|NRXN1_ENST00000405581.1_Silent_p.G38G|NRXN1_ENST00000406859.3_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													22	32					0	0	1	0	0	A	51255298	G	A	51255298	2	1	22	1	0	0	0	0	0	0	0	1	10713	1190	42	2		2	NRXN1	2	51255298	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	235	51255298	191944075	2363	4509											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													150	474					0	0	1	0	0	G	54117259	A	G	54117259	2	3	22	1	0	0	0	0	0	0	0	1	12758	59	3	3		3	PSME4	2	54117259	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2861961	54117259	189082114	2364	4510											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	616					0	0	1	0	0	A	54127092	G	A	54127092	2	1	22	1	0	0	0	0	0	0	0	1	12758	1252	44	2		2	PSME4	2	54127092	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9833	54127092	189072281	2365	4511											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	342					0	0	1	0	0	A	54133798	G	A	54133798	2	1	22	1	0	0	0	0	0	0	0	1	12758	1372	48	2		2	PSME4	2	54133798	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6706	54133798	189065575	2366	4512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	336					0	0	1	0	0	T	54159848	C	T	54159848	3	4	22	1	0	0	0	0	1	0	0	0	12758	797	28	2	4676	2	PSME4	2	54159848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26050	54159848	189039525	2367	4513											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_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													16	773					0	0	1	0	0	A	54483194	G	A	54483194	3	1	22	1	0	0	0	0	1	0	0	0	16724	1087	38	1	1141	1	TSPYL6	2	54483194	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	323346	54483194	188716179	2368	4514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	320					0	0	1	0	0	T	54753662	C	T	54753662	3	4	22	1	0	0	0	0	1	0	0	0	15175	913	32	2	109	2	SPTBN1	2	54753662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	270468	54753662	188445711	2369	4515											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	453					0	0	1	0	0	A	54856651	G	A	54856651	3	1	22	1	0	0	0	0	1	0	0	0	15175	1087	38	1	2543	1	SPTBN1	2	54856651	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102989	54856651	188342722	2370	4516											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	444					8.55712e-49	1.05692e-48	1	1	0	T	54874327	G	T	54874327	3	4	22	1	0	0	0	0	1	0	0	0	15175	991	35	2	5129	2	SPTBN1	2	54874327	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17676	54874327	188325046	2371	4517											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.S760N|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.S760N|RTN4_ENST00000354474.6_Missense_Mutation_p.S734N|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.S760N|RTN4_ENST00000405240.1_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													41	454					0	0	1	0	0	T	55252338	C	T	55252338	3	4	22	1	0	0	0	0	1	0	0	0	13780	797	28	2	747	2	RTN4	2	55252338	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	378011	55252338	187947035	2372	4518											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Silent_p.V438V|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000404909.1_Silent_p.V438V|RTN4_ENST00000354474.6_Silent_p.V412V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Silent_p.V438V|RTN4_ENST00000405240.1_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													35	165					0	0	1	0	0	G	55253303	A	G	55253303	2	3	22	1	0	0	0	0	0	0	0	1	13780	349	13	3		3	RTN4	2	55253303	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	965	55253303	187946070	2373	4519											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000336838.6_Silent_p.L173L|CCDC88A_ENST00000263630.8_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													36	130					0	0	1	0	0	T	55589552	C	T	55589552	2	4	22	1	0	0	0	0	0	0	0	1	2883	697	25	2		2	CCDC88A	2	55589552	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	336249	55589552	187609821	2374	4520											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407816.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000339012.3_Missense_Mutation_p.R151Q|CCDC104_ENST00000406691.3_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													17	211					0	0	1	0	0	A	55756108	G	A	55756108	3	1	22	1	0	0	0	0	1	0	0	0	2757	1058	37	1	391	1	CCDC104	2	55756108	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166556	55756108	187443265	2375	4521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407816.3_Missense_Mutation_p.D141N|CCDC104_ENST00000490934.1_3'UTR|CCDC104_ENST00000339012.3_Missense_Mutation_p.D166N|CCDC104_ENST00000406691.3_Missense_Mutation_p.D141N|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													82	309					0	0	1	0	0	A	55761032	G	A	55761032	3	1	22	1	0	0	0	0	1	0	0	0	2757	1058	37	1	439	1	CCDC104	2	55761032	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4924	55761032	187438341	2376	4522											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407823.3_Missense_Mutation_p.I198V|SMEK2_ENST00000345102.5_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													97	227					0	0	1	0	0	C	55825881	T	C	55825881	3	2	22	1	0	0	0	0	1	0	0	0	14848	1406	49	3	2013	3	SMEK2	2	55825881	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64849	55825881	187373492	2377	4523											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407823.3_Silent_p.L178L|SMEK2_ENST00000345102.5_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													58	300					0	0	1	0	0	A	55825941	G	A	55825941	2	1	22	1	0	0	0	0	0	0	0	1	14848	962	34	2		2	SMEK2	2	55825941	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	55825941	187373432	2378	4524											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	318					0	0	1	0	0	T	55871818	A	T	55871818	3	4	22	1	0	0	0	0	1	0	0	0	12221	127	5	5	515	5	PNPT1	2	55871818	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45877	55871818	187327555	2379	4525											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	477					0	0	1	0	0	A	55874502	G	A	55874502	3	1	22	1	0	0	0	0	1	0	0	0	12221	1058	37	1	809	1	PNPT1	2	55874502	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2684	55874502	187324871	2380	4526											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394554.1_Missense_Mutation_p.V488M|EFEMP1_ENST00000355426.3_Missense_Mutation_p.V488M|EFEMP1_ENST00000424836.2_Missense_Mutation_p.V350M	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													139	453					0	0	1	0	0	T	56094228	C	T	56094228	3	4	22	1	0	0	0	0	1	0	0	0	4967	565	20	2	23	2	EFEMP1	2	56094228	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219726	56094228	187105145	2381	4527											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394554.1_Silent_p.L455L|EFEMP1_ENST00000355426.3_Silent_p.L455L|EFEMP1_ENST00000424836.2_Silent_p.L317L	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													93	275					0	0	1	0	0	C	56094325	T	C	56094325	2	2	22	1	0	0	0	0	0	0	0	1	4967	1403	49	3		3	EFEMP1	2	56094325	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	97	56094325	187105048	2382	4528											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56098049G>A	ENST00000394555.2	-	10	1561	c.1124_splice	c.e10-1	p.R376_splice	EFEMP1_ENST00000394554.1_Splice_Site_p.R376_splice|EFEMP1_ENST00000355426.3_Splice_Site_p.R376_splice|EFEMP1_ENST00000424836.2_Splice_Site_p.R238_splice	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													99	239					0	0	1	0	0	A	56098049	G	A	56098049	5	1	22	1	0	0	0	0	0	0	1	0	4967	1130	39	1	363	1	EFEMP1	2	56098049	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3724	56098049	187101324	2383	4529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394554.1_Silent_p.G133G|EFEMP1_ENST00000355426.3_Silent_p.G133G|EFEMP1_ENST00000424836.2_Silent_p.G75G	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													105	311					0	0	1	0	0	A	56144918	G	A	56144918	2	1	22	1	0	0	0	0	0	0	0	1	4967	1190	42	2		2	EFEMP1	2	56144918	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46869	56144918	187054455	2384	4530											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394554.1_Missense_Mutation_p.A120V|EFEMP1_ENST00000355426.3_Missense_Mutation_p.A120V|EFEMP1_ENST00000424836.2_Missense_Mutation_p.A62V	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													81	373					0	0	1	0	0	A	56144958	G	A	56144958	3	1	22	1	0	0	0	0	1	0	0	0	4967	1203	42	2	1154	2	EFEMP1	2	56144958	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40	56144958	187054415	2385	4531											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	248					1.26778e-28	1.47706e-28	1	1	0	T	56420013	G	T	56420013	3	4	22	1	0	0	0	0	1	0	0	0	2879	962	34	2	684	2	CCDC85A	2	56420013	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275055	56420013	186779360	2386	4532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	611					4.32679e-17	4.76816e-17	1	1	0	T	56420234	G	T	56420234	3	4	22	1	0	0	0	0	1	0	0	0	2879	971	34	2	905	2	CCDC85A	2	56420234	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	221	56420234	186779139	2387	4533											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	558					7.04047e-22	7.94894e-22	1	1	0	T	56420278	G	T	56420278	4	4	22	1	0	0	0	0	0	1	0	0	2879	1175	41	2	949	2	CCDC85A	2	56420278	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44	56420278	186779095	2388	4534											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356842.4_Silent_p.K637K|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.K603K|BCL11A_ENST00000538214.1_Silent_p.K603K	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								74	255					0	0	1	0	0	T	60688136	C	T	60688136	2	4	22	1	0	0	0	0	0	0	0	1	1361	796	28	2		2	BCL11A	2	60688136	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4267858	60688136	182511237	2389	4535											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356842.4_Silent_p.D484D|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.D450D|BCL11A_ENST00000538214.1_Silent_p.D450D	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								34	97					0	0	1	0	0	A	60688595	G	A	60688595	2	1	22	1	0	0	0	0	0	0	0	1	1361	1136	40	1		1	BCL11A	2	60688595	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	459	60688595	182510778	2390	4536											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61145657G>A	ENST00000295025.7	+	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	257	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								163	438					0	0	1	0	0	A	61145657	G	A	61145657	3	1	22	1	0	0	0	0	1	0	0	0	13267	1145	40	1	795	1	REL	2	61145657	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	457062	61145657	182053716	2391	4537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	743					0	0	1	0	0	T	61194641	C	T	61194641	3	4	22	1	0	0	0	0	1	0	0	0	12883	855	30	2	1030	2	PUS10	2	61194641	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48984	61194641	182004732	2392	4538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61258998T>A	ENST00000295030.4	+	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	179	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													15	698					0	0	1	0	0	A	61258998	T	A	61258998	3	1	22	1	0	0	0	0	1	0	0	0	11789	1838	64	5	543	5	PEX13	2	61258998	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64357	61258998	181940375	2393	4539											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356719.2_Missense_Mutation_p.M173V|KIAA1841_ENST00000295031.5_Missense_Mutation_p.M173V|KIAA1841_ENST00000453873.1_Missense_Mutation_p.M173V|KIAA1841_ENST00000482513.1_3'UTR	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													91	457					0	0	1	0	0	G	61304140	A	G	61304140	3	3	22	1	0	0	0	0	1	0	0	0	8303	101	4	3	531	3	KIAA1841	2	61304140	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45142	61304140	181895233	2394	4540											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356719.2_Missense_Mutation_p.S578P|KIAA1841_ENST00000295031.5_Missense_Mutation_p.S578P|KIAA1841_ENST00000453873.1_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													11	478					0	0	1	0	0	C	61336419	T	C	61336419	3	2	22	1	0	0	0	0	1	0	0	0	8303	1435	50	3	1786	3	KIAA1841	2	61336419	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32279	61336419	181862954	2395	4541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356719.2_Missense_Mutation_p.K589Q|KIAA1841_ENST00000295031.5_Missense_Mutation_p.K589Q|KIAA1841_ENST00000453873.1_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													64	228					0	0	1	0	0	C	61343134	A	C	61343134	3	2	22	1	0	0	0	0	1	0	0	0	8303	247	9	3	1823	3	KIAA1841	2	61343134	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6715	61343134	181856239	2396	4542											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356719.2_Silent_p.S635S|KIAA1841_ENST00000295031.5_Silent_p.S635S|KIAA1841_ENST00000453873.1_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													70	346					3.58576e-35	4.27743e-35	1	1	0	A	61344641	C	A	61344641	2	1	22	1	0	0	0	0	0	0	0	1	8303	668	24	2		2	KIAA1841	2	61344641	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1507	61344641	181854732	2397	4543											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61411915C>A	ENST00000394457.2	+	3	1798	c.55C>A	c.(55-57)Ctg>Atg	p.L19M	AHSA2_ENST00000410073.1_Missense_Mutation_p.L19M|AHSA2_ENST00000357022.2_Missense_Mutation_p.L19M|AHSA2_ENST00000489653.1_3'UTR	NM_152392.3	NP_689605.1	Q719I0	AHSA2_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)	181					response to stress	cytoplasm	ATPase activator activity|chaperone binding			breast(1)|lung(3)|prostate(1)	5			Epithelial(17;0.0994)			CAAAAGAAAACTGAGTGGGAA	0.438													91	293					7.47877e-49	9.23912e-49	1	1	0	A	61411915	C	A	61411915	3	1	22	1	0	0	0	0	1	0	0	0	416	564	20	2	57	2	AHSA2	2	61411915	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67274	61411915	181787458	2398	4544											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	511					0	0	1	0	0	G	61575613	T	G	61575613	3	3	22	1	0	0	0	0	1	0	0	0	17125	1490	52	3	9227	3	USP34	2	61575613	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	163698	61575613	181623760	2399	4545											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000406957.1_Missense_Mutation_p.R749Q|XPO1_ENST00000404992.2_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								78	498					0	0	1	0	0	T	61715367	C	T	61715367	3	4	22	1	0	0	0	0	1	0	0	0	17505	884	31	1	997	1	XPO1	2	61715367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139754	61715367	181484006	2400	4546											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62066556C>A	ENST00000404929.1	-	3	1594	c.1583_splice	c.e3+1	p.R528_splice	FAM161A_ENST00000405894.3_Splice_Site_p.R528_splice	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													57	275					5.00936e-31	5.8875e-31	1	1	0	A	62066556	C	A	62066556	5	1	22	1	0	0	0	0	0	0	1	0	5502	695	24	2	415	2	FAM161A	2	62066556	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	351189	62066556	181132817	2401	4547											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	768					0	0	1	0	0	A	62067069	G	A	62067069	3	1	22	1	0	0	0	0	1	0	0	0	5502	1203	42	2	928	2	FAM161A	2	62067069	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	513	62067069	181132304	2402	4548											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													154	780					0	0	1	0	0	T	62067278	A	T	62067278	2	4	22	1	0	0	0	0	0	0	0	1	5502	233	9	5		5	FAM161A	2	62067278	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	209	62067278	181132095	2403	4549											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	64					0	0	1	0	0	C	62132863	A	C	62132863	3	2	22	1	0	0	0	0	1	0	0	0	3737	101	4	3	52	3	COMMD1	2	62132863	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65585	62132863	181066510	2404	4550											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													608	1663					0	0	1	0	0	T	62449557	C	T	62449557	3	4	22	1	0	0	0	0	1	0	0	0	1255	643	23	1	204	1	B3GNT2	2	62449557	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	316694	62449557	180749816	2405	4551											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63281286C>T	ENST00000366671.3	+	4	478	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	OTX1_ENST00000282549.2_Missense_Mutation_p.R68W	NM_001199770.1	NP_001186699.1	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													113	481					0	0	1	0	0	T	63281286	C	T	63281286	3	4	22	1	0	0	0	0	1	0	0	0	11367	759	27	1	208	1	OTX1	2	63281286	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	831729	63281286	179918087	2406	4552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63282778C>A	ENST00000366671.3	+	5	668	c.392C>A	c.(391-393)gCt>gAt	p.A131D	OTX1_ENST00000282549.2_Missense_Mutation_p.A131D	NM_001199770.1	NP_001186699.1	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													86	266					5.56462e-29	6.49283e-29	1	1	0	A	63282778	C	A	63282778	3	1	22	1	0	0	0	0	1	0	0	0	11367	797	28	2	402	2	OTX1	2	63282778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1492	63282778	179916595	2407	4553											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63283061C>T	ENST00000366671.3	+	5	951	c.675C>T	c.(673-675)taC>taT	p.Y225Y	OTX1_ENST00000282549.2_Silent_p.Y225Y	NM_001199770.1	NP_001186699.1	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													104	337					0	0	1	0	0	T	63283061	C	T	63283061	2	4	22	1	0	0	0	0	0	0	0	1	11367	547	19	1		1	OTX1	2	63283061	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	283	63283061	179916312	2408	4554											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63283199C>A	ENST00000366671.3	+	5	1089	c.813C>A	c.(811-813)tcC>tcA	p.S271S	OTX1_ENST00000282549.2_Silent_p.S271S	NM_001199770.1	NP_001186699.1	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													248	776					8.70135e-78	1.11109e-77	1	1	0	A	63283199	C	A	63283199	2	1	22	1	0	0	0	0	0	0	0	1	11367	581	21	2		2	OTX1	2	63283199	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138	63283199	179916174	2409	4555											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000487469.1_3'UTR|UGP2_ENST00000445915.2_Missense_Mutation_p.S112F|UGP2_ENST00000467648.2_Missense_Mutation_p.S92F|UGP2_ENST00000394417.2_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													90	523					0	0	1	0	0	T	64109652	C	T	64109652	3	4	22	1	0	0	0	0	1	0	0	0	17003	855	30	2	322	2	UGP2	2	64109652	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	826453	64109652	179089721	2410	4556											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000238855.7_Missense_Mutation_p.V138G|AFTPH_ENST00000238856.4_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													57	305					0	0	1	0	0	G	64779021	T	G	64779021	3	3	22	1	0	0	0	0	1	0	0	0	363	1696	59	3	415	3	AFTPH	2	64779021	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	669369	64779021	178420352	2411	4557											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000238855.7_Missense_Mutation_p.K333N|AFTPH_ENST00000238856.4_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													72	485					9.12251e-31	1.07152e-30	1	1	0	T	64779607	G	T	64779607	3	4	22	1	0	0	0	0	1	0	0	0	363	991	35	2	1001	2	AFTPH	2	64779607	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	586	64779607	178419766	2412	4558											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	443					2.68928e-46	3.30219e-46	1	1	0	A	64863365	C	A	64863365	3	1	22	1	0	0	0	0	1	0	0	0	14175	797	28	2	307	2	SERTAD2	2	64863365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83758	64863365	178336008	2413	4559											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000476805.1_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													81	202					0	0	1	0	0	T	64863673	C	T	64863673	2	4	22	1	0	0	0	0	0	0	0	1	14175	523	19	1		1	SERTAD2	2	64863673	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	308	64863673	178335700	2414	4560											
SERTAD2	9792	broad.mit.edu	37	chr2	64863943	64863943	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaccgtcacagggagacacGattttgccttccagcccatc	10	14	1	1	rs78389198	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64863943G>A	ENST00000313349.3	-	2	360	c.63C>T	c.(61-63)atC>atT	p.I21I	SERTAD2_ENST00000476805.1_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	21					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						AGGGAGACACGATTTTGCCTT	0.468													131	586					0	0	1	0	0	A	64863943	G	A	64863943	2	1	22	1	0	0	0	0	0	0	0	1	14175	1048	37	1		1	SERTAD2	2	64863943	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270	64863943	178335430	2415	4561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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	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													65	661					0	0	1	0	0	T	65243637	C	T	65243637	2	4	22	1	0	0	0	0	0	0	0	1	14489	874	31	1		1	SLC1A4	2	65243637	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	379694	65243637	177955736	2416	4562											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	559					0	0	1	0	0	T	65296585	C	T	65296585	2	4	22	1	0	0	0	0	0	0	0	1	3280	680	24	2		2	CEP68	2	65296585	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52948	65296585	177902788	2417	4563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.S172N|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000546106.1_Missense_Mutation_p.S172N|RAB1A_ENST00000494188.1_Intron	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													95	266					0	0	1	0	0	A	65298745	G	A	65298745	3	1	22	1	0	0	0	0	1	0	0	0	3280	971	34	2	521	2	CEP68	2	65298745	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2160	65298745	177900628	2418	4564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	394					0	0	1	0	0	A	65540683	G	A	65540683	2	1	22	1	0	0	0	0	0	0	0	1	15149	1079	38	1		1	SPRED2	2	65540683	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241938	65540683	177658690	2419	4565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													220	601					0	0	1	0	0	A	65540906	G	A	65540906	3	1	22	1	0	0	0	0	1	0	0	0	15149	1087	38	1	274	1	SPRED2	2	65540906	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	223	65540906	177658467	2420	4566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	189					0	0	1	0	0	G	67630386	T	G	67630386	3	3	22	1	0	0	0	0	1	0	0	0	5295	1609	56	3	590	3	ETAA1	2	67630386	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2089480	67630386	175568987	2421	4567											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	354					0	0	1	0	0	T	67631862	C	T	67631862	3	4	22	1	0	0	0	0	1	0	0	0	5295	913	32	2	2066	2	ETAA1	2	67631862	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1476	67631862	175567511	2422	4568											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	263					0	0	1	0	0	T	68274319	C	T	68274319	3	4	22	1	0	0	0	0	1	0	0	0	1964	835	29	2	317	2	C1D	2	68274319	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	642457	68274319	174925054	2423	4569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000492039.2_5'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.K259T|WDR92_ENST00000406245.2_Missense_Mutation_p.K158T	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													55	284					0	0	1	0	0	G	68361924	T	G	68361924	3	3	22	1	0	0	0	0	1	0	0	0	17399	1841	64	3	305	3	WDR92	2	68361924	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	87605	68361924	174837449	2424	4570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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		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													11	401					0	0	1	0	0	C	68385624	T	C	68385624	3	2	22	1	0	0	0	0	1	0	0	0	12209	1406	49	3	326	3	PNO1	2	68385624	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	23700	68385624	174813749	2425	4571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	812					0	0	1	0	0	A	68607924	G	A	68607924	3	1	22	1	0	0	0	0	1	0	0	0	12101	942	33	2	278	2	PLEK	2	68607924	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222300	68607924	174591449	2426	4572											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68691350C>T	ENST00000377957.2	-	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	153										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						CTTATCTTTCCAGTTCTGCTT	0.368													77	907					0	0	1	0	0	T	68691350	C	T	68691350	2	4	22	1	0	0	0	0	0	0	0	1	5790	581	21	2		2	FBXO48	2	68691350	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83426	68691350	174508023	2427	4573											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	224					0	0	1	0	0	A	68753207	G	A	68753207	3	1	22	1	0	0	0	0	1	0	0	0	772	1233	43	2	659	2	APLF	2	68753207	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61857	68753207	174446166	2428	4574											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													222	606					0	0	1	0	0	C	68873141	T	C	68873141	3	2	22	1	0	0	0	0	1	0	0	0	12604	1493	52	3	190	3	PROKR1	2	68873141	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	119934	68873141	174326232	2429	4575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467265.1_Missense_Mutation_p.P37L|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.P11L|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P37L|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P30L|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P30L|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													27	1574					0	0	1	0	0	T	69002401	C	T	69002401	3	4	22	1	0	0	0	0	1	0	0	0	871	594	21	2	156	2	ARHGAP25	2	69002401	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129260	69002401	174196972	2430	4576											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467265.1_Missense_Mutation_p.R57M|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.R31M|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R57M|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R50M|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R50M|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													269	728					2.40599e-113	3.09752e-113	1	1	0	T	69002461	G	T	69002461	3	4	22	1	0	0	0	0	1	0	0	0	871	1000	35	2	216	2	ARHGAP25	2	69002461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	69002461	174196912	2431	4577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467265.1_Intron|ARHGAP25_ENST00000295381.3_Intron|ARHGAP25_ENST00000409202.3_Intron|ARHGAP25_ENST00000497079.1_Intron|ARHGAP25_ENST00000409220.1_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													19	41					0	0	1	0	0	C	69043302	A	C	69043302	3	2	22	1	0	0	0	0	1	0	0	0	871	116	4	3		3	ARHGAP25	2	69043302	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40841	69043302	174156071	2432	4578											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467265.1_Missense_Mutation_p.P331L|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P371L|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P364L|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P364L|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													114	702					0	0	1	0	0	T	69046363	C	T	69046363	3	4	22	1	0	0	0	0	1	0	0	0	871	623	22	2	1186	2	ARHGAP25	2	69046363	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3061	69046363	174153010	2433	4579											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361060.4_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													31	101					3.33393e-15	3.63836e-15	1	1	0	T	69553337	G	T	69553337	3	4	22	1	0	0	0	0	1	0	0	0	6387	942	33	2	19	2	GFPT1	2	69553337	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	506974	69553337	173646036	2434	4580											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409116.1_Missense_Mutation_p.R86W|SNRNP27_ENST00000488986.1_3'UTR	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													29	151					0	0	1	0	0	T	70123668	C	T	70123668	3	4	22	1	0	0	0	0	1	0	0	0	14908	527	19	1	266	1	SNRNP27	2	70123668	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	570331	70123668	173075705	2435	4581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	300					0	0	1	0	0	T	70165302	C	T	70165302	2	4	22	1	0	0	0	0	0	0	0	1	10047	767	27	1		1	MXD1	2	70165302	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41634	70165302	173034071	2436	4582											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	364					0	0	1	0	0	T	70188262	C	T	70188262	3	4	22	1	0	0	0	0	1	0	0	0	1057	536	19	1	476	1	ASPRV1	2	70188262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22960	70188262	173011111	2437	4583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													252	760					0	0	1	0	0	G	70315123	T	G	70315123	3	3	22	1	0	0	0	0	1	0	0	0	11547	1435	50	3	250	3	PCBP1	2	70315123	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	126861	70315123	172884250	2438	4584											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	306					0	0	1	0	0	T	70315305	C	T	70315305	3	4	22	1	0	0	0	0	1	0	0	0	11547	759	27	1	432	1	PCBP1	2	70315305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182	70315305	172884068	2439	4585											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	117					9.17885e-22	1.03586e-21	1	1	0	T	70315942	G	T	70315942	3	4	22	1	0	0	0	0	1	0	0	0	11547	971	34	2	1069	2	PCBP1	2	70315942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	637	70315942	172883431	2440	4586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	240					3.0332e-58	3.802e-58	1	1	0	T	70502729	G	T	70502729	3	4	22	1	0	0	0	0	1	0	0	0	11655	1203	42	2	808	2	PCYOX1	2	70502729	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	186787	70502729	172696644	2441	4587											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70901918T>C	ENST00000264436.3	-	14	2077	c.1633A>G	c.(1633-1635)Acc>Gcc	p.T545A	ADD2_ENST00000407644.2_Missense_Mutation_p.T545A|ADD2_ENST00000355733.3_Missense_Mutation_p.T545A	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	545					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													150	421					0	0	1	0	0	C	70901918	T	C	70901918	3	2	22	1	0	0	0	0	1	0	0	0	304	1638	57	3	649	3	ADD2	2	70901918	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	399189	70901918	172297455	2442	4588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70904002G>A	ENST00000264436.3	-	13	1963	c.1519C>T	c.(1519-1521)Cga>Tga	p.R507*	ADD2_ENST00000413157.2_Nonsense_Mutation_p.R507*|ADD2_ENST00000407644.2_Nonsense_Mutation_p.R507*|ADD2_ENST00000430656.1_Nonsense_Mutation_p.R523*|ADD2_ENST00000355733.3_Nonsense_Mutation_p.R507*	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	507					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													88	366					0	0	1	0	0	A	70904002	G	A	70904002	4	1	22	1	0	0	0	0	0	1	0	0	304	1124	39	1	854	1	ADD2	2	70904002	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2084	70904002	172295371	2443	4589											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70918003T>C	ENST00000264436.3	-	8	1208	c.764A>G	c.(763-765)gAc>gGc	p.D255G	ADD2_ENST00000413157.2_Missense_Mutation_p.D255G|ADD2_ENST00000407644.2_Missense_Mutation_p.D255G|AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000430656.1_Missense_Mutation_p.D271G|ADD2_ENST00000355733.3_Missense_Mutation_p.D255G	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	255					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													37	316					0	0	1	0	0	C	70918003	T	C	70918003	3	2	22	1	0	0	0	0	1	0	0	0	304	1667	58	3	1629	3	ADD2	2	70918003	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14001	70918003	172281370	2444	4590											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70933384G>A	ENST00000264436.3	-	3	601	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	ADD2_ENST00000413157.2_Missense_Mutation_p.R53C|ADD2_ENST00000407644.2_Missense_Mutation_p.R53C|ADD2_ENST00000430656.1_Missense_Mutation_p.R69C|ADD2_ENST00000355733.3_Missense_Mutation_p.R53C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	53					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													16	351					0	0	1	0	0	A	70933384	G	A	70933384	3	1	22	1	0	0	0	0	1	0	0	0	304	1087	38	1	2260	1	ADD2	2	70933384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15381	70933384	172265989	2445	4591											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70933444G>A	ENST00000264436.3	-	3	541	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	ADD2_ENST00000413157.2_Missense_Mutation_p.R33C|ADD2_ENST00000407644.2_Missense_Mutation_p.R33C|ADD2_ENST00000430656.1_Missense_Mutation_p.R49C|ADD2_ENST00000355733.3_Missense_Mutation_p.R33C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	33					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													139	346					0	0	1	0	0	A	70933444	G	A	70933444	3	1	22	1	0	0	0	0	1	0	0	0	304	1087	38	1	2320	1	ADD2	2	70933444	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	70933444	172265929	2446	4592											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	283					1.5739e-10	1.67034e-10	1	1	0	A	71043855	C	A	71043855	4	1	22	1	0	0	0	0	0	1	0	0	3539	922	32	2	1127	2	CLEC4F	2	71043855	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110411	71043855	172155518	2447	4593											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	230					0	0	1	0	0	T	71046523	C	T	71046523	3	4	22	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	2448	4594											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056532.3	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													27	56					0	0	1	0	0	T	71060782	C	T	71060782	3	4	22	1	0	0	0	0	1	0	0	0	3005	884	31	1	442	1	CD207	2	71060782	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14259	71060782	172138591	2449	4595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056532.3	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													5	207					0	0	1	0	0	T	71062649	C	T	71062649	3	4	22	1	0	0	0	0	1	0	0	0	3005	768	27	1	843	1	CD207	2	71062649	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1867	71062649	172136724	2450	4596											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056532.3	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													5	94					0.184627	0.18487	1	1	0	A	71062889	C	A	71062889	3	1	22	1	0	0	0	0	1	0	0	0	3005	680	24	2	992	2	CD207	2	71062889	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	240	71062889	172136484	2451	4597											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000244204.5_Missense_Mutation_p.R321M|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													35	124					8.4185e-14	9.11178e-14	1	1	0	T	71305565	G	T	71305565	3	4	22	1	0	0	0	0	1	0	0	0	10190	1000	35	2	1138	2	NAGK	2	71305565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242676	71305565	171893808	2452	4598											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													240	659					2.64057e-105	3.39797e-105	1	1	0	A	71351596	C	A	71351596	3	1	22	1	0	0	0	0	1	0	0	0	9427	681	24	2	420	2	MCEE	2	71351596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46031	71351596	171847777	2453	4599											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409407.1_Missense_Mutation_p.V715G|ZNF638_ENST00000355812.3_3'UTR|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													127	573					0	0	1	0	0	G	71654323	T	G	71654323	3	3	22	1	0	0	0	0	1	0	0	0	18112	1725	60	3	5414	3	ZNF638	2	71654323	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	302727	71654323	171545050	2454	4600											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409744.1_Silent_p.K1012K|DYSF_ENST00000410041.1_Silent_p.K1043K|DYSF_ENST00000410020.3_Silent_p.K1043K|DYSF_ENST00000409762.1_Silent_p.K1042K|DYSF_ENST00000409651.1_Silent_p.K1057K|DYSF_ENST00000409366.1_Silent_p.K1026K|DYSF_ENST00000394120.2_Silent_p.K1026K|DYSF_ENST00000413539.2_Silent_p.K1056K|DYSF_ENST00000429174.2_Silent_p.K1025K|DYSF_ENST00000409582.3_Silent_p.K1042K	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													39	152					0	0	1	0	0	A	71797772	G	A	71797772	2	1	22	1	0	0	0	0	0	0	0	1	4885	962	34	2		2	DYSF	2	71797772	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143449	71797772	171401601	2455	4601											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409744.1_Missense_Mutation_p.A1202T|DYSF_ENST00000410041.1_Missense_Mutation_p.A1233T|DYSF_ENST00000410020.3_Missense_Mutation_p.A1233T|DYSF_ENST00000409762.1_Missense_Mutation_p.A1232T|DYSF_ENST00000409651.1_Missense_Mutation_p.A1247T|DYSF_ENST00000409366.1_Missense_Mutation_p.A1216T|DYSF_ENST00000394120.2_Missense_Mutation_p.A1216T|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.A1246T|DYSF_ENST00000429174.2_Missense_Mutation_p.A1215T|DYSF_ENST00000409582.3_Missense_Mutation_p.A1232T	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													11	328					0	0	1	0	0	A	71825816	G	A	71825816	3	1	22	1	0	0	0	0	1	0	0	0	4885	1203	42	2	3965	2	DYSF	2	71825816	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28044	71825816	171373557	2456	4602											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409744.1_Missense_Mutation_p.G1551V|DYSF_ENST00000410041.1_Missense_Mutation_p.G1561V|DYSF_ENST00000410020.3_Missense_Mutation_p.G1582V|DYSF_ENST00000409762.1_Missense_Mutation_p.G1560V|DYSF_ENST00000409651.1_Missense_Mutation_p.G1575V|DYSF_ENST00000409366.1_Missense_Mutation_p.G1565V|DYSF_ENST00000394120.2_Missense_Mutation_p.G1544V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.G1574V|DYSF_ENST00000429174.2_Missense_Mutation_p.G1564V|DYSF_ENST00000409582.3_Missense_Mutation_p.G1581V	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													395	1148					3.81505e-103	4.90782e-103	1	1	0	T	71883410	G	T	71883410	3	4	22	1	0	0	0	0	1	0	0	0	4885	1261	44	2	5053	2	DYSF	2	71883410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57594	71883410	171315963	2457	4603											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	378					0	0	1	0	0	A	72371142	G	A	72371142	2	1	22	1	0	0	0	0	0	0	0	1	4179	1074	38	1		1	CYP26B1	2	72371142	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	487732	72371142	170828231	2458	4604											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	493					0	0	1	0	0	T	72371289	C	T	72371289	2	4	22	1	0	0	0	0	0	0	0	1	4179	755	27	1		1	CYP26B1	2	72371289	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147	72371289	170828084	2459	4605											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	80					0	0	1	0	0	A	73145311	G	A	73145311	2	1	22	1	0	0	0	0	0	0	0	1	5135	1074	38	1		1	EMX1	2	73145311	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	774022	73145311	170054062	2460	4606											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000410065.1_Intron|SFXN5_ENST00000474528.1_5'UTR	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													19	211					0	0	1	0	0	A	73198789	G	A	73198789	2	1	22	1	0	0	0	0	0	0	0	1	14252	1161	41	2		2	SFXN5	2	73198789	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53478	73198789	170000584	2461	4607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	91					0	0	1	0	0	T	73449901	C	T	73449901	3	4	22	1	0	0	0	0	1	0	0	0	14879	759	27	1	687	1	SMYD5	2	73449901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	251112	73449901	169749472	2462	4608											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													220	615					0	0	1	0	0	G	73450209	A	G	73450209	3	3	22	1	0	0	0	0	1	0	0	0	14879	275	10	3	781	3	SMYD5	2	73450209	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	308	73450209	169749164	2463	4609											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540468.1_Silent_p.V21V|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000537131.1_Silent_p.V8V|CCT7_ENST00000258091.5_Silent_p.V108V|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000398422.2_Intron	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													65	329					0	0	1	0	0	A	73470188	G	A	73470188	2	1	22	1	0	0	0	0	0	0	0	1	2981	1277	45	2		2	CCT7	2	73470188	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19979	73470188	169729185	2464	4610											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540468.1_Missense_Mutation_p.L80M|CCT7_ENST00000538797.1_Missense_Mutation_p.L39M|CCT7_ENST00000537131.1_Missense_Mutation_p.L67M|CCT7_ENST00000258091.5_Missense_Mutation_p.L167M|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000398422.2_Intron	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													25	121					1.64293e-13	1.77503e-13	1	1	0	A	73471724	C	A	73471724	3	1	22	1	0	0	0	0	1	0	0	0	2981	796	28	2	521	2	CCT7	2	73471724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1536	73471724	169727649	2465	4611											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540468.1_Missense_Mutation_p.A199V|CCT7_ENST00000538797.1_Missense_Mutation_p.A158V|CCT7_ENST00000537131.1_Missense_Mutation_p.A186V|CCT7_ENST00000258091.5_Missense_Mutation_p.A286V|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000398422.2_Missense_Mutation_p.A82V	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													10	276					0	0	1	0	0	T	73476192	C	T	73476192	3	4	22	1	0	0	0	0	1	0	0	0	2981	739	26	2	887	2	CCT7	2	73476192	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4468	73476192	169723181	2466	4612											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	38					0	0	1	0	0	A	73486119	G	A	73486119	2	1	22	1	0	0	0	0	0	0	0	1	5783	1074	38	1		1	FBXO41	2	73486119	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9927	73486119	169713254	2467	4613											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73519155G>A	ENST00000545030.1	-	2	1274	c.1200C>T	c.(1198-1200)agC>agT	p.S400S	EGR4_ENST00000436467.2_Silent_p.S297S	NM_001965.3	NP_001956.3	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													12	106					0	0	1	0	0	A	73519155	G	A	73519155	2	1	22	1	0	0	0	0	0	0	0	1	5000	1078	38	1		1	EGR4	2	73519155	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33036	73519155	169680218	2468	4614											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73519670G>A	ENST00000545030.1	-	2	759	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	EGR4_ENST00000436467.2_Silent_p.L126L	NM_001965.3	NP_001956.3	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													4	94					0	0	1	0	0	A	73519670	G	A	73519670	2	1	22	1	0	0	0	0	0	0	0	1	5000	962	34	2		2	EGR4	2	73519670	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	515	73519670	169679703	2469	4615											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_055935.4	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													188	661					0	0	1	0	0	T	73675536	C	T	73675536	3	4	22	1	0	0	0	0	1	0	0	0	531	739	26	2	1909	2	ALMS1	2	73675536	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155866	73675536	169523837	2470	4616											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_055935.4	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													18	462					0.000132079	0.000134276	1	1	0	T	73718408	G	T	73718408	3	4	22	1	0	0	0	0	1	0	0	0	531	971	34	2	9357	2	ALMS1	2	73718408	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42872	73718408	169480965	2471	4617											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_055935.4	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													25	726					0	0	1	0	0	T	73762007	C	T	73762007	3	4	22	1	0	0	0	0	1	0	0	0	531	855	30	2	9881	2	ALMS1	2	73762007	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43599	73762007	169437366	2472	4618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409009.1_Missense_Mutation_p.A3975T|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935.4	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													121	348					0	0	1	0	0	A	73828501	G	A	73828501	3	1	22	1	0	0	0	0	1	0	0	0	531	1203	42	2	12123	2	ALMS1	2	73828501	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66494	73828501	169370872	2473	4619											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409009.1_Missense_Mutation_p.V4020I|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935.4	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													81	215					0	0	1	0	0	A	73829384	G	A	73829384	3	1	22	1	0	0	0	0	1	0	0	0	531	1029	36	2	12262	2	ALMS1	2	73829384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	883	73829384	169369989	2474	4620											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409731.3_Missense_Mutation_p.R293W|ACTG2_ENST00000345517.3_Missense_Mutation_p.R336W			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													68	397					0	0	1	0	0	T	74146577	C	T	74146577	3	4	22	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	2475	4621											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	335					0	0	1	0	0	A	74273825	G	A	74273825	3	1	22	1	0	0	0	0	1	0	0	0	15830	1203	42	2	378	2	TET3	2	74273825	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127248	74273825	168925548	2476	4622											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	133					0	0	1	0	0	T	74274777	A	T	74274777	3	4	22	1	0	0	0	0	1	0	0	0	15830	72	3	5	1330	5	TET3	2	74274777	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	952	74274777	168924596	2477	4623											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394050.3_5'UTR|MTHFD2_ENST00000409804.1_Intron|MTHFD2_ENST00000264090.4_Nonsense_Mutation_p.R62*|MTHFD2_ENST00000409601.1_Nonsense_Mutation_p.R123*|MTHFD2_ENST00000477455.1_3'UTR	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													306	817					0	0	1	0	0	T	74435776	C	T	74435776	4	4	22	1	0	0	0	0	0	1	0	0	9977	528	19	1	504	1	MTHFD2	2	74435776	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160999	74435776	168763597	2478	4624											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359484.4_Missense_Mutation_p.V259M|SLC4A5_ENST00000358683.4_Missense_Mutation_p.V259M|SLC4A5_ENST00000377632.1_Missense_Mutation_p.V323M|SLC4A5_ENST00000377634.4_Missense_Mutation_p.V323M|SLC4A5_ENST00000346834.4_Missense_Mutation_p.V323M|SLC4A5_ENST00000357822.5_Missense_Mutation_p.V323M|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.V323M	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													71	217					0	0	1	0	0	T	74482960	C	T	74482960	3	4	22	1	0	0	0	0	1	0	0	0	14712	536	19	1	2522	1	SLC4A5	2	74482960	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47184	74482960	168716413	2479	4625											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359484.4_Silent_p.G168G|SLC4A5_ENST00000358683.4_Silent_p.G168G|SLC4A5_ENST00000377632.1_Silent_p.G232G|SLC4A5_ENST00000377634.4_Silent_p.G232G|SLC4A5_ENST00000346834.4_Silent_p.G232G|SLC4A5_ENST00000357822.5_Silent_p.G232G|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Silent_p.G232G	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													6	241					0	0	1	0	0	T	74491293	C	T	74491293	2	4	22	1	0	0	0	0	0	0	0	1	14712	842	30	2		2	SLC4A5	2	74491293	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8333	74491293	168708080	2480	4626											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359484.4_Missense_Mutation_p.R162H|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R162H|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R226H|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R226H|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R226H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R226H|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R226H	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													57	214					0	0	1	0	0	T	74491312	C	T	74491312	3	4	22	1	0	0	0	0	1	0	0	0	14712	768	27	1	2824	1	SLC4A5	2	74491312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	74491312	168708061	2481	4627											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359484.4_Missense_Mutation_p.R137Q|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R137Q|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R201Q|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R201Q|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R201Q|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R201Q|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R201Q	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													43	261					0	0	1	0	0	T	74491387	C	T	74491387	3	4	22	1	0	0	0	0	1	0	0	0	14712	652	23	1	2899	1	SLC4A5	2	74491387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75	74491387	168707986	2482	4628											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409567.3_Missense_Mutation_p.G580C|DCTN1_ENST00000409240.1_Missense_Mutation_p.G563C|DCTN1_ENST00000394003.3_Missense_Mutation_p.G593C|DCTN1_ENST00000407639.2_Missense_Mutation_p.G466C|DCTN1_ENST00000409438.1_Missense_Mutation_p.G466C|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													52	382					3.4597e-24	3.94879e-24	1	1	0	A	74595911	C	A	74595911	3	1	22	1	0	0	0	0	1	0	0	0	4329	681	24	2	2106	2	DCTN1	2	74595911	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104524	74595911	168603462	2483	4629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	386					0	0	1	0	0	A	74654384	G	A	74654384	2	1	22	1	0	0	0	0	0	0	0	1	13774	963	34	2		2	RTKN	2	74654384	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58473	74654384	168544989	2484	4630											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	340					5.16669e-11	5.49905e-11	1	1	0	T	74682672	G	T	74682672	3	4	22	1	0	0	0	0	1	0	0	0	7791	962	34	2	204	2	INO80B	2	74682672	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28288	74682672	168516701	2485	4631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Silent_p.L442L	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													131	694					9.186e-65	1.16102e-64	1	1	0	T	74689272	G	T	74689272	2	4	22	1	0	0	0	0	0	0	0	1	9746	1161	41	2		2	MOGS	2	74689272	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6600	74689272	168510101	2486	4632											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409065.1_Missense_Mutation_p.T170A|MOGS_ENST00000452063.2_Missense_Mutation_p.T64A|MOGS_ENST00000535045.1_Intron	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													88	467					0	0	1	0	0	C	74691694	T	C	74691694	3	2	22	1	0	0	0	0	1	0	0	0	9746	1696	59	3	2017	3	MOGS	2	74691694	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2422	74691694	168507679	2487	4633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	631					0	0	1	0	0	A	74702391	G	A	74702391	3	1	22	1	0	0	0	0	1	0	0	0	2794	1203	42	2	507	2	CCDC142	2	74702391	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10697	74702391	168496982	2488	4634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	270					1.69475e-38	2.04315e-38	1	1	0	T	74719130	G	T	74719130	5	4	22	1	0	0	0	0	0	0	1	0	16762	1014	35	2	910	2	TTC31	2	74719130	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16739	74719130	168480243	2489	4635											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	1425					0	0	1	0	0	C	74749838	T	C	74749838	3	2	22	1	0	0	0	0	1	0	0	0	4777	1435	50	3	809	3	DQX1	2	74749838	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30708	74749838	168449535	2490	4636											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	691					0	0	1	0	0	T	74751381	C	T	74751381	3	4	22	1	0	0	0	0	1	0	0	0	4777	855	30	2	1704	2	DQX1	2	74751381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1543	74751381	168447992	2491	4637											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	85					0	0	1	0	0	A	74757547	G	A	74757547	2	1	22	1	0	0	0	0	0	0	0	1	7498	1074	38	1		1	HTRA2	2	74757547	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6166	74757547	168441826	2492	4638											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393937.2_Silent_p.A310A|LOXL3_ENST00000409986.1_Silent_p.A310A|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000409249.1_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													295	701					0	0	1	0	0	A	74762766	G	A	74762766	2	1	22	1	0	0	0	0	0	0	0	1	8946	1335	47	2		2	LOXL3	2	74762766	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5219	74762766	168436607	2493	4639											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													315	1492					3.75818e-72	4.7802e-72	1	1	0	T	75094762	G	T	75094762	5	4	22	1	0	0	0	0	0	0	1	0	7232	956	33	2	236	2	HK2	2	75094762	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	331996	75094762	168104611	2494	4640											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	46					0	0	1	0	0	A	75105841	G	A	75105841	3	1	22	1	0	0	0	0	1	0	0	0	7232	1145	40	1	1092	1	HK2	2	75105841	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11079	75105841	168093532	2495	4641											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75425709C>T	ENST00000305249.4	-	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	118					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													61	381					0	0	1	0	0	T	75425709	C	T	75425709	3	4	22	1	0	0	0	0	1	0	0	0	15562	768	27	1	895	1	TACR1	2	75425709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	319868	75425709	167773664	2496	4642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75425831G>A	ENST00000305249.4	-	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	77					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													52	290					0	0	1	0	0	A	75425831	G	A	75425831	3	1	22	1	0	0	0	0	1	0	0	0	15562	1087	38	1	1017	1	TACR1	2	75425831	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122	75425831	167773542	2497	4643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409282.1_Missense_Mutation_p.Q380H|LRRTM4_ENST00000409911.1_Missense_Mutation_p.Q380H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.Q379H|LRRTM4_ENST00000409093.1_Missense_Mutation_p.Q379H	NM_024993.4	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													6	222					0.0293803	0.0294705	1	1	0	A	77745858	C	A	77745858	3	1	22	1	0	0	0	0	1	0	0	0	9087	912	32	2	649	2	LRRTM4	2	77745858	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2320027	77745858	165453515	2498	4644											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	181					1.84395e-34	2.19361e-34	1	1	0	A	79253879	C	A	79253879	3	1	22	1	0	0	0	0	1	0	0	0	13265	796	28	2	123	2	REG3G	2	79253879	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1508021	79253879	163945494	2499	4645											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	176					0	0	1	0	0	A	79347941	G	A	79347941	5	1	22	1	0	0	0	0	0	0	1	0	13262	956	33	2		2	REG1A	2	79347941	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94062	79347941	163851432	2500	4646											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	1277					3.08376e-08	3.21767e-08	1	1	0	A	79348758	C	A	79348758	2	1	22	1	0	0	0	0	0	0	0	1	13262	668	24	2		2	REG1A	2	79348758	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	817	79348758	163850615	2501	4647											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	631					5.97022e-63	7.52953e-63	1	1	0	A	79350005	C	A	79350005	2	1	22	1	0	0	0	0	0	0	0	1	13262	668	24	2		2	REG1A	2	79350005	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1247	79350005	163849368	2502	4648											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540488.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S141A|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000402739.4_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													85	502					0	0	1	0	0	G	80085159	T	G	80085159	3	3	22	1	0	0	0	0	1	0	0	0	4037	1551	54	3	329	3	CTNNA2	2	80085159	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	735154	80085159	163114214	2503	4649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540488.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A268T|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000402739.4_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													78	298					0	0	1	0	0	A	80101316	G	A	80101316	3	1	22	1	0	0	0	0	1	0	0	0	4037	1087	38	1	718	1	CTNNA2	2	80101316	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16157	80101316	163098057	2504	4650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.S371I|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_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)			51	161					9.22156e-22	1.04059e-21	1	1	0	A	80529833	C	A	80529833	3	1	22	1	0	0	0	0	1	0	0	0	9084	797	28	2	460	2	LRRTM1	2	80529833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	428517	80529833	162669540	2505	4651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.S65S|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_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)			117	313					0	0	1	0	0	A	80530750	G	A	80530750	2	1	22	1	0	0	0	0	0	0	0	1	9084	1103	39	1		1	LRRTM1	2	80530750	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	917	80530750	162668623	2506	4652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.P17S|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_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)			76	220					0	0	1	0	0	A	80530896	G	A	80530896	3	1	22	1	0	0	0	0	1	0	0	0	9084	1203	42	2	1523	2	LRRTM1	2	80530896	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146	80530896	162668477	2507	4653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540488.1_Silent_p.N426N|CTNNA2_ENST00000361291.4_Silent_p.N460N|CTNNA2_ENST00000541047.1_Silent_p.N426N|CTNNA2_ENST00000343114.3_Silent_p.N105N|CTNNA2_ENST00000496558.1_Silent_p.N426N|CTNNA2_ENST00000402739.4_Silent_p.N426N			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													20	307					0	0	1	0	0	T	80646714	C	T	80646714	2	4	22	1	0	0	0	0	0	0	0	1	4037	477	17	2		2	CTNNA2	2	80646714	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115818	80646714	162552659	2508	4654											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540488.1_Missense_Mutation_p.R838Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R917Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R562Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R931Q			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													143	782					0	0	1	0	0	A	80874927	G	A	80874927	3	1	22	1	0	0	0	0	1	0	0	0	4037	1058	37	1	2506	1	CTNNA2	2	80874927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	228213	80874927	162324446	2509	4655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	371					1.02788e-11	1.09837e-11	1	1	0	A	84668499	C	A	84668499	3	1	22	1	0	0	0	0	1	0	0	0	15420	739	26	2	661	2	SUCLG1	2	84668499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3793572	84668499	158530874	2510	4656											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	167					0	0	1	0	0	G	84668576	T	G	84668576	3	3	22	1	0	0	0	0	1	0	0	0	15420	1783	62	3	738	3	SUCLG1	2	84668576	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	77	84668576	158530797	2511	4657											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	213					0	0	1	0	0	T	85133188	C	T	85133188	3	4	22	1	0	0	0	0	1	0	0	0	16314	739	26	2	49	2	TMSB10	2	85133188	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	464612	85133188	158066185	2512	4658											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	271					6.40141e-05	6.5221e-05	1	1	0	A	85532507	C	A	85532507	3	1	22	1	0	0	0	0	1	0	0	0	15757	680	24	2	1000	2	TCF7L1	2	85532507	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	399319	85532507	157666866	2513	4659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	257					0	0	1	0	0	T	85536398	C	T	85536398	3	4	22	1	0	0	0	0	1	0	0	0	15757	797	28	2	1626	2	TCF7L1	2	85536398	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3891	85536398	157662975	2514	4660											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000263854.6_3'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.A544T	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													57	570					0	0	1	0	0	T	85570385	C	T	85570385	3	4	22	1	0	0	0	0	1	0	0	0	13290	739	26	2	23	2	RETSAT	2	85570385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33987	85570385	157628988	2515	4661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000263854.6_Missense_Mutation_p.E115K|RETSAT_ENST00000457495.2_Intron	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													166	468					0	0	1	0	0	T	85578815	C	T	85578815	3	4	22	1	0	0	0	0	1	0	0	0	13290	835	29	2	1529	2	RETSAT	2	85578815	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8430	85578815	157620558	2516	4662											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409344.3_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000409013.3_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000393852.4_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409890.2_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000428955.2_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													38	1019					0	0	1	0	0	T	85598230	C	T	85598230	4	4	22	1	0	0	0	0	0	1	0	0	5098	876	31	1	404	1	ELMOD3	2	85598230	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19415	85598230	157601143	2517	4663											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85780133G>A	ENST00000233838.3	-	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	406					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													99	538					0	0	1	0	0	A	85780133	G	A	85780133	3	1	22	1	0	0	0	0	1	0	0	0	6398	1116	39	1	1088	1	GGCX	2	85780133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181903	85780133	157419240	2518	4664											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	315					6.2294e-58	7.80558e-58	1	1	0	T	85826704	G	T	85826704	3	4	22	1	0	0	0	0	1	0	0	0	16127	971	34	2	305	2	TMEM150A	2	85826704	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46571	85826704	157372669	2519	4665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	327					0	0	1	0	0	A	85827121	G	A	85827121	3	1	22	1	0	0	0	0	1	0	0	0	16127	1087	38	1	538	1	TMEM150A	2	85827121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	417	85827121	157372252	2520	4666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85890797G>A	ENST00000342375.3	-	8	981	c.846C>T	c.(844-846)agC>agT	p.S282S	SFTPB_ENST00000393822.3_Silent_p.S294S|SFTPB_ENST00000409383.1_Silent_p.S294S|SFTPB_ENST00000519937.2_Silent_p.S282S	NM_000542.3|NM_198843.2	NP_000533.3|NP_942140.2	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													30	61					0	0	1	0	0	A	85890797	G	A	85890797	2	1	22	1	0	0	0	0	0	0	0	1	14245	1078	38	1		1	SFTPB	2	85890797	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63676	85890797	157308576	2521	4667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86094728G>A	ENST00000393808.3	-	1	49	c.13_splice	c.e1+1	p.P5_splice	ST3GAL5_ENST00000484728.1_Intron|ST3GAL5_ENST00000393805.1_Intron|ST3GAL5_ENST00000377332.3_Intron|ST3GAL5_ENST00000525834.2_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													55	159					0	0	1	0	0	A	86094728	G	A	86094728	5	1	22	1	0	0	0	0	0	0	1	0	15274	1072	37	1	1202	1	ST3GAL5	2	86094728	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203931	86094728	157104645	2522	4668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													197	1062					1.56929e-64	1.98263e-64	1	1	0	T	86266459	G	T	86266459	4	4	22	1	0	0	0	0	0	1	0	0	12257	963	34	2	1331	2	POLR1A	2	86266459	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	171731	86266459	156932914	2523	4669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000483538.1_5'UTR|POLR1A_ENST00000409681.1_Silent_p.I696I			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													42	144					7.66079e-34	9.09671e-34	1	1	0	T	86281383	G	T	86281383	2	4	22	1	0	0	0	0	0	0	0	1	12257	1164	41	2		2	POLR1A	2	86281383	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14924	86281383	156917990	2524	4670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	140					0	0	1	0	0	T	86302248	C	T	86302248	3	4	22	1	0	0	0	0	1	0	0	0	12257	797	28	2	3738	2	POLR1A	2	86302248	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20865	86302248	156897125	2525	4671											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	220					0	0	1	0	0	T	86310237	C	T	86310237	3	4	22	1	0	0	0	0	1	0	0	0	12257	768	27	1	4489	1	POLR1A	2	86310237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7989	86310237	156889136	2526	4672											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													207	908					0	0	1	0	0	T	86325797	C	T	86325797	2	4	22	1	0	0	0	0	0	0	0	1	12257	796	28	2		2	POLR1A	2	86325797	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15560	86325797	156873576	2527	4673											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	271					0	0	1	0	0	A	86354302	G	A	86354302	3	1	22	1	0	0	0	0	1	0	0	0	12778	1261	44	2	1020	2	PTCD3	2	86354302	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28505	86354302	156845071	2528	4674											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409051.2_Missense_Mutation_p.I601T|IMMT_ENST00000442664.2_Missense_Mutation_p.I647T|IMMT_ENST00000449247.2_Missense_Mutation_p.I637T|IMMT_ENST00000254636.5_Missense_Mutation_p.I549T	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													93	539					0	0	1	0	0	G	86371725	A	G	86371725	3	3	22	1	0	0	0	0	1	0	0	0	7762	101	4	3	337	3	IMMT	2	86371725	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17423	86371725	156827648	2529	4675											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473407.1_5'UTR|REEP1_ENST00000541910.1_Missense_Mutation_p.D69Y|REEP1_ENST00000535845.1_Missense_Mutation_p.R120I|REEP1_ENST00000540790.1_Missense_Mutation_p.R126I|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													60	160					2.22609e-26	2.56449e-26	1	1	0	A	86459903	C	A	86459903	3	1	22	1	0	0	0	0	1	0	0	0	13256	913	32	2	234	2	REEP1	2	86459903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88178	86459903	156739470	2530	4676											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542128.1_Missense_Mutation_p.S1103Y|KDM3A_ENST00000409064.1_Missense_Mutation_p.S1155Y|KDM3A_ENST00000312912.5_Missense_Mutation_p.S1155Y			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													12	315					7.03913e-09	7.37812e-09	1	1	0	A	86716673	C	A	86716673	3	1	22	1	0	0	0	0	1	0	0	0	8170	913	32	2	3550	2	KDM3A	2	86716673	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	256770	86716673	156482700	2531	4677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000426549.1_RNA|CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron	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													284	835					5.94848e-79	7.60071e-79	1	1	0	A	86831267	C	A	86831267	3	1	22	1	0	0	0	0	1	0	0	0	13475	797	28	2	304	2	RNF103	2	86831267	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114594	86831267	156368106	2532	4678											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC015971.2_ENST00000439077.1_RNA|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron	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													65	316					4.64241e-40	5.62287e-40	1	1	0	T	86831816	G	T	86831816	3	4	22	1	0	0	0	0	1	0	0	0	13475	971	34	2	853	2	RNF103	2	86831816	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	549	86831816	156367557	2533	4679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	252					0	0	1	0	0	A	87000470	G	A	87000470	5	1	22	1	0	0	0	0	0	0	1	0	13449	956	33	2	1146	2	RMND5A	2	87000470	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168654	87000470	156198903	2534	4680											
KRCC1	51315	broad.mit.edu	37	chr2	88327535	88327536	+	Frame_Shift_Ins	INS	-	-	T													taagtcaatttcctcgcagcINSttttttttctcttatgctta							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88327535_88327536insT	ENST00000347055.3	-	4	940_941	c.547_548insA	c.(547-549)ctgfs	p.L183fs		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	183	Lys-rich.							p.S183fs*7(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TTCCTCGCAGCTTTTTTTTCTC	0.411													11	735	---	---	---	---						T	88327536	-	T	88327535	7	5	22	1	0	1	1	0	0	0	0	0	8484	797	28	0	235	0	KRCC1	2	88327535	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	1327065	88327535	154871838	2535	4681											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	264					0	0	1	0	0	A	88328012	G	A	88328012	3	1	22	1	0	0	0	0	1	0	0	0	8484	1203	42	2	712	2	KRCC1	2	88328012	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	477	88328012	154871361	2536	4682											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	217					0	0	1	0	0	C	88328060	T	C	88328060	3	2	22	1	0	0	0	0	1	0	0	0	8484	1406	49	3	760	3	KRCC1	2	88328060	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	48	88328060	154871313	2537	4683											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	369					0	0	1	0	0	A	88383924	G	A	88383924	3	1	22	1	0	0	0	0	1	0	0	0	14875	1087	38	1	233	1	SMYD1	2	88383924	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55864	88383924	154815449	2538	4684											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	297					0	0	1	0	0	A	88387540	G	A	88387540	4	1	22	1	0	0	0	0	0	1	0	0	14875	1212	42	2	484	2	SMYD1	2	88387540	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3616	88387540	154811833	2539	4685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	233					0	0	1	0	0	T	88405903	C	T	88405903	2	4	22	1	0	0	0	0	0	0	0	1	14875	477	17	2		2	SMYD1	2	88405903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18363	88405903	154793470	2540	4686											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449349.1_Silent_p.K101K|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_Silent_p.K133K|THNSL2_ENST00000343544.4_Silent_p.K133K|THNSL2_ENST00000402102.1_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													102	326					0	0	1	0	0	A	88474333	G	A	88474333	2	1	22	1	0	0	0	0	0	0	0	1	15923	962	34	2		2	THNSL2	2	88474333	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68430	88474333	154725040	2541	4687											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88482594T>G	ENST00000324166.5	+	6	2768		c.e6+2		THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000496844.1_Splice_Site|THNSL2_ENST00000377254.3_Splice_Site|THNSL2_ENST00000343544.4_Splice_Site|THNSL2_ENST00000402102.1_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													43	166					0	0	1	0	0	G	88482594	T	G	88482594	5	3	22	1	0	0	0	0	0	0	1	0	15923	1681	58	3	1101	3	THNSL2	2	88482594	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8261	88482594	154716779	2542	4688											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449349.1_3'UTR|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_3'UTR|THNSL2_ENST00000343544.4_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													24	67					0	0	1	0	0	A	88485522	G	A	88485522	2	1	22	1	0	0	0	0	0	0	0	1	15923	962	34	2		2	THNSL2	2	88485522	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2928	88485522	154713851	2543	4689											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	759					6.49762e-13	6.99513e-13	1	1	0	T	88857381	G	T	88857381	3	4	22	1	0	0	0	0	1	0	0	0	5024	971	34	2	130	2	EIF2AK3	2	88857381	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	371859	88857381	154341992	2544	4690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR|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													24	894					1.64293e-13	1.77503e-13	1	1	0	A	88874373	C	A	88874373	3	1	22	1	0	0	0	0	1	0	0	0	5024	796	28	2	742	2	EIF2AK3	2	88874373	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16992	88874373	154325000	2545	4691											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_Intron|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													263	750					1.09717e-106	1.41195e-106	1	1	0	A	88874864	C	A	88874864	3	1	22	1	0	0	0	0	1	0	0	0	5024	797	28	2	1233	2	EIF2AK3	2	88874864	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	491	88874864	154324509	2546	4692											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	524					0	0	1	0	0	T	88890358	C	T	88890358	3	4	22	1	0	0	0	0	1	0	0	0	5024	855	30	2	2422	2	EIF2AK3	2	88890358	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15494	88890358	154309015	2547	4693											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	84					0	0	1	0	0	T	95537600	C	T	95537600	2	4	22	1	0	0	0	0	0	0	0	1	15814	755	27	1		1	TEKT4	2	95537600	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6647242	95537600	147661773	2548	4694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	70					1.15088e-07	1.19614e-07	1	1	0	A	95537712	C	A	95537712	3	1	22	1	0	0	0	0	1	0	0	0	15814	680	24	2	390	2	TEKT4	2	95537712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112	95537712	147661661	2549	4695											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000353004.3_Intron|MAL_ENST00000349807.3_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													15	833					0	0	1	0	0	A	95715347	G	A	95715347	3	1	22	1	0	0	0	0	1	0	0	0	9249	1087	38	1	293	1	MAL	2	95715347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177635	95715347	147484026	2550	4696											
MRPS5	64969	broad.mit.edu	37	chr2	95775728	95775728	+	Frame_Shift_Del	DEL	T	T	-													ttagttcttttgcctcttccTttttttgctccagcaccagt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95775728delT	ENST00000272418.2	-	4	544	c.336delA	c.(334-336)aafs	p.K112fs		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	112					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						TGCCTCTTCCTTTTTTTGCTC	0.383													9	787	---	---	---	---						-	95775728	T	-	95775728	7	5	22	1	0	1	0	1	0	0	0	0	9895	1606	56	0	992	0	MRPS5	2	95775728	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	60381	95775728	147423645	2551	4697											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	393					0	0	1	0	0	T	95818951	C	T	95818951	2	4	22	1	0	0	0	0	0	0	0	1	18016	726	26	2		2	ZNF514	2	95818951	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43223	95818951	147380422	2552	4698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000295210.6_Missense_Mutation_p.H238Y|ZNF2_ENST00000425369.1_Missense_Mutation_p.H196Y|ZNF2_ENST00000453539.2_Missense_Mutation_p.H289Y|ZNF2_ENST00000340539.5_Missense_Mutation_p.H276Y	NM_001017396.1	NP_001017396.1	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													92	471					0	0	1	0	0	T	95847399	C	T	95847399	3	4	22	1	0	0	0	0	1	0	0	0	17818	478	17	2	840	2	ZNF2	2	95847399	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28448	95847399	147351974	2553	4699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000463580.1_Intron|PROM2_ENST00000542147.1_Missense_Mutation_p.A110T|PROM2_ENST00000317668.4_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													39	115					0	0	1	0	0	A	95941711	G	A	95941711	3	1	22	1	0	0	0	0	1	0	0	0	12608	1087	38	1	338	1	PROM2	2	95941711	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94312	95941711	147257662	2554	4700											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542147.1_Silent_p.G467G|PROM2_ENST00000317668.4_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													61	238					0	0	1	0	0	T	95945719	C	T	95945719	2	4	22	1	0	0	0	0	0	0	0	1	12608	755	27	1		1	PROM2	2	95945719	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4008	95945719	147253654	2555	4701											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542147.1_Missense_Mutation_p.P667H|PROM2_ENST00000317668.4_Missense_Mutation_p.P716H	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													7	196					0.00198382	0.00200138	1	1	0	A	95952933	C	A	95952933	3	1	22	1	0	0	0	0	1	0	0	0	12608	681	24	2	2221	2	PROM2	2	95952933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7214	95952933	147246440	2556	4702											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377181.2_Intron|KCNIP3_ENST00000295225.5_Intron|KCNIP3_ENST00000360990.3_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													10	70					0	0	1	0	0	G	96012774	A	G	96012774	3	3	22	1	0	0	0	0	1	0	0	0	8085	217	8	3	198	3	KCNIP3	2	96012774	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	59841	96012774	147186599	2557	4703											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377181.2_3'UTR|KCNIP3_ENST00000468529.1_Silent_p.E66E|KCNIP3_ENST00000360990.3_Silent_p.E92E	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													61	240					0	0	1	0	0	A	96040138	G	A	96040138	2	1	22	1	0	0	0	0	0	0	0	1	8085	962	34	2		2	KCNIP3	2	96040138	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27364	96040138	147159235	2558	4704											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	91					0	0	1	0	0	T	96688928	C	T	96688928	3	4	22	1	0	0	0	0	1	0	0	0	6629	768	27	1	328	1	GPAT2	2	96688928	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	648790	96688928	146510445	2559	4705											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	86					0	0	1	0	0	A	96688941	G	A	96688941	3	1	22	1	0	0	0	0	1	0	0	0	6629	942	33	2	341	2	GPAT2	2	96688941	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13	96688941	146510432	2560	4706											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	228					1.88225e-35	2.24767e-35	1	1	0	A	96691710	C	A	96691710	3	1	22	1	0	0	0	0	1	0	0	0	6629	796	28	2	1225	2	GPAT2	2	96691710	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2769	96691710	146507663	2561	4707											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000673.2	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													42	123					0	0	1	0	0	A	96781645	G	A	96781645	3	1	22	1	0	0	0	0	1	0	0	0	337	1087	38	1	1103	1	ADRA2B	2	96781645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89935	96781645	146417728	2562	4708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000673.2	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													5	166					0	0	1	0	0	T	96781656	C	T	96781656	4	4	22	1	0	0	0	0	0	1	0	0	337	595	21	2	1114	2	ADRA2B	2	96781656	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11	96781656	146417717	2563	4709											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000673.2	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													4	101					0	0	1	0	0	T	96781849	C	T	96781849	3	4	22	1	0	0	0	0	1	0	0	0	337	739	26	2	1307	2	ADRA2B	2	96781849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193	96781849	146417524	2564	4710											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	76					0.00010058	0.000102273	1	1	0	A	96932184	C	A	96932184	2	1	22	1	0	0	0	0	0	0	0	1	3440	668	24	2		2	CIAO1	2	96932184	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150335	96932184	146267189	2565	4711											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	458					5.48756e-27	6.34209e-27	1	1	0	A	96944327	C	A	96944327	3	1	22	1	0	0	0	0	1	0	0	0	14906	681	24	2	996	2	SNRNP200	2	96944327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12143	96944327	146255046	2566	4712											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	527					0.000673444	0.000681208	1	1	0	T	96953626	G	T	96953626	3	4	22	1	0	0	0	0	1	0	0	0	14906	1000	35	2	3154	2	SNRNP200	2	96953626	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9299	96953626	146245747	2567	4713											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000439118.2_Silent_p.V22V|ITPRIPL1_ENST00000542887.1_Silent_p.V14V|ITPRIPL1_ENST00000536814.1_Silent_p.V14V	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													94	417					0	0	1	0	0	C	96992435	T	C	96992435	2	2	22	1	0	0	0	0	0	0	0	1	7968	1799	63	3		3	ITPRIPL1	2	96992435	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38809	96992435	146206938	2568	4714											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427946.1_Intron|NCAPH_ENST00000240423.4_Silent_p.A86A			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													97	494					0	0	1	0	0	T	97007618	C	T	97007618	2	4	22	1	0	0	0	0	0	0	0	1	10256	668	24	2		2	NCAPH	2	97007618	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15183	97007618	146191755	2569	4715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427946.1_Missense_Mutation_p.K79T|NCAPH_ENST00000240423.4_Missense_Mutation_p.K215T			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													62	254					0	0	1	0	0	C	97009891	A	C	97009891	3	2	22	1	0	0	0	0	1	0	0	0	10256	72	3	3	666	3	NCAPH	2	97009891	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2273	97009891	146189482	2570	4716											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427946.1_Missense_Mutation_p.T355I|NCAPH_ENST00000240423.4_Missense_Mutation_p.T491I			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													194	596					0	0	1	0	0	T	97026333	C	T	97026333	3	4	22	1	0	0	0	0	1	0	0	0	10256	565	20	2	1518	2	NCAPH	2	97026333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16442	97026333	146173040	2571	4717											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	320					4.98208e-43	6.07636e-43	1	1	0	T	97427765	G	T	97427765	3	4	22	1	0	0	0	0	1	0	0	0	3638	933	33	2	1031	2	CNNM4	2	97427765	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	401432	97427765	145771608	2572	4718											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	396					0	0	1	0	0	A	97427930	G	A	97427930	2	1	22	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	2573	4719											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													155	534					0	0	1	0	0	C	97427977	A	C	97427977	3	2	22	1	0	0	0	0	1	0	0	0	3638	304	11	3	1243	3	CNNM4	2	97427977	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47	97427977	145771396	2574	4720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Missense_Mutation_p.S481G	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													55	364					0	0	1	0	0	G	97493533	A	G	97493533	3	3	22	1	0	0	0	0	1	0	0	0	3637	188	7	3	1599	3	CNNM3	2	97493533	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65556	97493533	145705840	2575	4721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000476975.1_Intron|ANKRD23_ENST00000418232.1_Missense_Mutation_p.A139T|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													159	500					0	0	1	0	0	T	97506535	C	T	97506535	3	4	22	1	0	0	0	0	1	0	0	0	648	710	25	2	526	2	ANKRD23	2	97506535	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13002	97506535	145692838	2576	4722											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	304					1.15088e-07	1.19614e-07	1	1	0	T	97527040	G	T	97527040	3	4	22	1	0	0	0	0	1	0	0	0	14087	971	34	2	680	2	SEMA4C	2	97527040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20505	97527040	145672333	2577	4723											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	180					0	0	1	0	0	A	97529765	G	A	97529765	3	1	22	1	0	0	0	0	1	0	0	0	14087	1116	39	1	1293	1	SEMA4C	2	97529765	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2725	97529765	145669608	2578	4724											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	43					0	0	1	0	0	A	98340826	G	A	98340826	2	1	22	1	0	0	0	0	0	0	0	1	17574	962	34	2		2	ZAP70	2	98340826	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	811061	98340826	144858547	2579	4725											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	44					0.335167	0.335247	1	1	0	T	98340886	G	T	98340886	3	4	22	1	0	0	0	0	1	0	0	0	17574	933	33	2	389	2	ZAP70	2	98340886	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	98340886	144858487	2580	4726											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442208.1_Nonsense_Mutation_p.R157*|ZAP70_ENST00000463643.1_3'UTR	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													39	456					0	0	1	0	0	T	98350016	C	T	98350016	4	4	22	1	0	0	0	0	0	1	0	0	17574	528	19	1	869	1	ZAP70	2	98350016	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9130	98350016	144849357	2581	4727											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442208.1_Missense_Mutation_p.A261T|ZAP70_ENST00000451498.2_Missense_Mutation_p.A80T|ZAP70_ENST00000463643.1_3'UTR	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													233	608					0	0	1	0	0	A	98351789	G	A	98351789	3	1	22	1	0	0	0	0	1	0	0	0	17574	1203	42	2	1189	2	ZAP70	2	98351789	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1773	98351789	144847584	2582	4728											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442208.1_Missense_Mutation_p.E383K|ZAP70_ENST00000451498.2_Missense_Mutation_p.E202K|ZAP70_ENST00000463643.1_3'UTR	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													194	952					0	0	1	0	0	A	98354262	G	A	98354262	3	1	22	1	0	0	0	0	1	0	0	0	17574	1059	37	1	1563	1	ZAP70	2	98354262	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2473	98354262	144845111	2583	4729											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	284					0	0	1	0	0	A	98373767	G	A	98373767	3	1	22	1	0	0	0	0	1	0	0	0	16104	1203	42	2	208	2	TMEM131	2	98373767	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19505	98373767	144825606	2584	4730											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	298					8.55712e-49	1.05692e-48	1	1	0	T	98373796	G	T	98373796	3	4	22	1	0	0	0	0	1	0	0	0	16104	962	34	2	237	2	TMEM131	2	98373796	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29	98373796	144825577	2585	4731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													266	918					0	0	1	0	0	C	98422056	T	C	98422056	2	2	22	1	0	0	0	0	0	0	0	1	16104	1635	57	3		3	TMEM131	2	98422056	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	48260	98422056	144777317	2586	4732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	236					0	0	1	0	0	T	98429173	C	T	98429173	3	4	22	1	0	0	0	0	1	0	0	0	16104	913	32	2	4098	2	TMEM131	2	98429173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7117	98429173	144770200	2587	4733											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	270					0	0	1	0	0	A	98430750	G	A	98430750	3	1	22	1	0	0	0	0	1	0	0	0	16104	1087	38	1	4369	1	TMEM131	2	98430750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1577	98430750	144768623	2588	4734											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	567					0	0	1	0	0	A	98709695	G	A	98709695	3	1	22	1	0	0	0	0	1	0	0	0	17301	971	34	2	142	2	VWA3B	2	98709695	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278945	98709695	144489678	2589	4735											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													196	954					1.26091e-62	1.58936e-62	1	1	0	T	98750321	G	T	98750321	4	4	22	1	0	0	0	0	0	1	0	0	17301	943	33	2	929	2	VWA3B	2	98750321	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40626	98750321	144449052	2590	4736	30	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													183	934					2.27795e-59	2.8603e-59	1	1	0	A	98750327	C	A	98750327	3	1	22	1	0	0	0	0	1	0	0	0	17301	855	30	2	935	2	VWA3B	2	98750327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6	98750327	144449046	2591	4737	30	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	381					7.48243e-07	7.73841e-07	1	1	0	A	98846533	C	A	98846533	3	1	22	1	0	0	0	0	1	0	0	0	17301	913	32	2	2229	2	VWA3B	2	98846533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96206	98846533	144352840	2592	4738											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													137	806					0	0	1	0	0	A	98853155	G	A	98853155	3	1	22	1	0	0	0	0	1	0	0	0	17301	1145	40	1	2705	1	VWA3B	2	98853155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6622	98853155	144346218	2593	4739											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	58					0	0	1	0	0	T	98928393	C	T	98928393	2	4	22	1	0	0	0	0	0	0	0	1	17301	639	23	1		1	VWA3B	2	98928393	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75238	98928393	144270980	2594	4740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000272602.2_Missense_Mutation_p.L219I|CNGA3_ENST00000409937.1_Missense_Mutation_p.L223I|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													62	278					1.31726e-23	1.49873e-23	1	1	0	A	99008415	C	A	99008415	3	1	22	1	0	0	0	0	1	0	0	0	3621	797	28	2	677	2	CNGA3	2	99008415	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80022	99008415	144190958	2595	4741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000272602.2_Silent_p.L356L|CNGA3_ENST00000409937.1_Silent_p.L360L|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													83	385					3.26865e-45	4.00579e-45	1	1	0	A	99012701	C	A	99012701	2	1	22	1	0	0	0	0	0	0	0	1	3621	900	32	2		2	CNGA3	2	99012701	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4286	99012701	144186672	2596	4742											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000272602.2_Silent_p.D674D|CNGA3_ENST00000409937.1_Silent_p.D678D|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													66	197					0	0	1	0	0	T	99013655	C	T	99013655	2	4	22	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	2597	4743											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99185040C>T	ENST00000074304.5	+	23	2835	c.2442C>T	c.(2440-2442)ggC>ggT	p.G814G	INPP4A_ENST00000409540.3_Silent_p.G775G|INPP4A_ENST00000409851.3_Silent_p.G809G|INPP4A_ENST00000467042.1_3'UTR|INPP4A_ENST00000409463.1_Silent_p.G143G|INPP4A_ENST00000523221.1_Silent_p.G814G|INPP4A_ENST00000409016.3_Silent_p.G775G|INPP4A_ENST00000545415.1_Silent_p.G775G	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	814					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													8	49					0	0	1	0	0	T	99185040	C	T	99185040	2	4	22	1	0	0	0	0	0	0	0	1	7796	755	27	1		1	INPP4A	2	99185040	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171385	99185040	144014333	2598	4744											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	546					0	0	1	0	0	T	99226382	C	T	99226382	3	4	22	1	0	0	0	0	1	0	0	0	17050	797	28	2	162	2	UNC50	2	99226382	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41342	99226382	143972991	2599	4745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	240					0	0	1	0	0	T	99226447	C	T	99226447	2	4	22	1	0	0	0	0	0	0	0	1	17050	506	18	2		2	UNC50	2	99226447	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65	99226447	143972926	2600	4746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.E451D|TSGA10_ENST00000355053.4_Missense_Mutation_p.E451D	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													71	346					5.62145e-24	6.41091e-24	1	1	0	A	99681453	C	A	99681453	3	1	22	1	0	0	0	0	1	0	0	0	16678	680	24	2	767	2	TSGA10	2	99681453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	455006	99681453	143517920	2601	4747											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542655.1_Missense_Mutation_p.T93M|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.T93M|TSGA10_ENST00000355053.4_Missense_Mutation_p.T93M	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													262	765					0	0	1	0	0	A	99722093	G	A	99722093	3	1	22	1	0	0	0	0	1	0	0	0	16678	1145	40	1	1874	1	TSGA10	2	99722093	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40640	99722093	143477280	2602	4748											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	330					2.26856e-23	2.57851e-23	1	1	0	A	99786049	C	A	99786049	3	1	22	1	0	0	0	0	1	0	0	0	9643	912	32	2	139	2	MITD1	2	99786049	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63956	99786049	143413324	2603	4749											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													142	420					0	0	1	0	0	G	99797352	A	G	99797352	2	3	22	1	0	0	0	0	0	0	0	1	9643	340	12	3		3	MITD1	2	99797352	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11303	99797352	143402021	2604	4750											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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													126	612					0	0	1	0	0	T	99858877	C	T	99858877	3	4	22	1	0	0	0	0	1	0	0	0	9151	536	19	1	53	1	LYG2	2	99858877	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61525	99858877	143340496	2605	4751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000333017.2_Intron|LYG2_ENST00000409238.1_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													97	319					1.01947e-62	1.28529e-62	1	1	0	A	99860445	C	A	99860445	3	1	22	1	0	0	0	0	1	0	0	0	9151	580	20	2		2	LYG2	2	99860445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1568	99860445	143338928	2606	4752											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000333017.2_Silent_p.G19G|LYG2_ENST00000409238.1_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													69	340					0	0	1	0	0	A	99863270	G	A	99863270	2	1	22	1	0	0	0	0	0	0	0	1	9151	958	34	2		2	LYG2	2	99863270	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2825	99863270	143336103	2607	4753											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	277					0	0	1	0	0	A	99907721	G	A	99907721	2	1	22	1	0	0	0	0	0	0	0	1	9150	1074	38	1		1	LYG1	2	99907721	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44451	99907721	143291652	2608	4754											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	382					0	0	1	0	0	A	99909020	G	A	99909020	3	1	22	1	0	0	0	0	1	0	0	0	9150	1145	40	1	473	1	LYG1	2	99909020	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1299	99909020	143290353	2609	4755											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	320					0	0	1	0	0	A	99909057	G	A	99909057	2	1	22	1	0	0	0	0	0	0	0	1	9150	1194	42	2		2	LYG1	2	99909057	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	99909057	143290316	2610	4756											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	271					3.28156e-27	3.79657e-27	1	1	0	T	99909097	G	T	99909097	3	4	22	1	0	0	0	0	1	0	0	0	9150	942	33	2	550	2	LYG1	2	99909097	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40	99909097	143290276	2611	4757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99980843G>T	ENST00000289371.5	+	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	416					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													101	554					1.11883e-47	1.37812e-47	1	1	0	T	99980843	G	T	99980843	3	4	22	1	0	0	0	0	1	0	0	0	5072	942	33	2	1269	2	EIF5B	2	99980843	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71746	99980843	143218530	2612	4758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100011029A>G	ENST00000289371.5	+	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	1024					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													274	798					0	0	1	0	0	G	100011029	A	G	100011029	3	3	22	1	0	0	0	0	1	0	0	0	5072	333	12	3	3148	3	EIF5B	2	100011029	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30186	100011029	143188344	2613	4759											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.P701S	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					121	365					0	0	1	0	0	A	100029261	G	A	100029261	3	1	22	1	0	0	0	0	1	0	0	0	13291	1261	44	2	1695	2	REV1	2	100029261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18232	100029261	143170112	2614	4760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100209827G>T	ENST00000317233.4	-	14	2531	c.2296C>A	c.(2296-2298)Ctc>Atc	p.L766I	AFF3_ENST00000409236.1_Missense_Mutation_p.L766I|AFF3_ENST00000356421.2_Missense_Mutation_p.L791I|AFF3_ENST00000409579.1_Missense_Mutation_p.L791I	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	766					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													56	301					1.39843e-22	1.58406e-22	1	1	0	T	100209827	G	T	100209827	3	4	22	1	0	0	0	0	1	0	0	0	357	942	33	2	1428	2	AFF3	2	100209827	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180566	100209827	142989546	2615	4761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100210030G>A	ENST00000317233.4	-	14	2328	c.2093C>T	c.(2092-2094)gCc>gTc	p.A698V	AFF3_ENST00000409236.1_Missense_Mutation_p.A698V|AFF3_ENST00000356421.2_Missense_Mutation_p.A723V|AFF3_ENST00000409579.1_Missense_Mutation_p.A723V	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	698					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													157	449					0	0	1	0	0	A	100210030	G	A	100210030	3	1	22	1	0	0	0	0	1	0	0	0	357	1203	42	2	1631	2	AFF3	2	100210030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203	100210030	142989343	2616	4762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100210308G>A	ENST00000317233.4	-	14	2050	c.1815C>T	c.(1813-1815)ccC>ccT	p.P605P	AFF3_ENST00000409236.1_Silent_p.P605P|AFF3_ENST00000356421.2_Silent_p.P630P|AFF3_ENST00000409579.1_Silent_p.P630P	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	605					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													54	128					0	0	1	0	0	A	100210308	G	A	100210308	2	1	22	1	0	0	0	0	0	0	0	1	357	1103	39	1		1	AFF3	2	100210308	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278	100210308	142989065	2617	4763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100266103C>T	ENST00000317233.4	-	12	1404	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	AFF3_ENST00000409236.1_Missense_Mutation_p.R390H|AFF3_ENST00000356421.2_Missense_Mutation_p.R415H|AFF3_ENST00000409579.1_Missense_Mutation_p.R415H	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	390					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													92	442					0	0	1	0	0	T	100266103	C	T	100266103	3	4	22	1	0	0	0	0	1	0	0	0	357	768	27	1	2563	1	AFF3	2	100266103	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55795	100266103	142933270	2618	4764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100453987C>A	ENST00000317233.4	-	7	1109		c.e7-1		AFF3_ENST00000409236.1_Splice_Site|AFF3_ENST00000356421.2_Splice_Site|AFF3_ENST00000409579.1_Splice_Site	NM_002285.2	NP_002276.2	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													23	308					1.85244e-09	1.95034e-09	1	1	0	A	100453987	C	A	100453987	5	1	22	1	0	0	0	0	0	0	1	0	357	695	24	2	2879	2	AFF3	2	100453987	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187884	100453987	142745386	2619	4765											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100623808T>C	ENST00000317233.4	-	5	524	c.289A>G	c.(289-291)Aaa>Gaa	p.K97E	AFF3_ENST00000409236.1_Missense_Mutation_p.K97E|AFF3_ENST00000356421.2_Missense_Mutation_p.K122E|AFF3_ENST00000409579.1_Missense_Mutation_p.K122E	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	97					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													124	365					0	0	1	0	0	C	100623808	T	C	100623808	3	2	22	1	0	0	0	0	1	0	0	0	357	1821	63	3	3471	3	AFF3	2	100623808	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	169821	100623808	142575565	2620	4766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	167					4.21674e-32	4.97474e-32	1	1	0	A	100903511	C	A	100903511	3	1	22	1	0	0	0	0	1	0	0	0	8940	564	20	2	337	2	LONRF2	2	100903511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279703	100903511	142295862	2621	4767											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													153	812					0	0	1	0	0	T	101010006	C	T	101010006	3	4	22	1	0	0	0	0	1	0	0	0	3420	855	30	2	302	2	CHST10	2	101010006	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106495	101010006	142189367	2622	4768											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	509					0	0	1	0	0	T	101186141	C	T	101186141	3	4	22	1	0	0	0	0	1	0	0	0	11675	797	28	2	340	2	PDCL3	2	101186141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176135	101186141	142013232	2623	4769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	422					0	0	1	0	0	T	101584767	C	T	101584767	3	4	22	1	0	0	0	0	1	0	0	0	10610	893	31	1	970	1	NPAS2	2	101584767	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	398626	101584767	141614606	2624	4770											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	312					0	0	1	0	0	G	101587499	A	G	101587499	3	3	22	1	0	0	0	0	1	0	0	0	10610	275	10	3	1145	3	NPAS2	2	101587499	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2732	101587499	141611874	2625	4771											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	424					3.19965e-69	4.05994e-69	1	1	0	T	101606760	G	T	101606760	3	4	22	1	0	0	0	0	1	0	0	0	10610	1116	39	4	1936	4	NPAS2	2	101606760	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19261	101606760	141592613	2626	4772											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TBC1D8_ENST00000376840.4_Missense_Mutation_p.S1037Y|RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409650.1_Intron|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													58	146					2.17126e-26	2.5019e-26	1	1	0	T	101624596	G	T	101624596	3	4	22	1	0	0	0	0	1	0	0	0	15685	942	33	2	316	2	TBC1D8	2	101624596	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17836	101624596	141574777	2627	4773											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TBC1D8_ENST00000376840.4_Missense_Mutation_p.E1006G|RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409650.1_Intron|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													43	108					0	0	1	0	0	C	101624689	T	C	101624689	3	2	22	1	0	0	0	0	1	0	0	0	15685	1783	62	3	409	3	TBC1D8	2	101624689	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	93	101624689	141574684	2628	4774											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	189					0	0	1	0	0	T	101905443	C	T	101905443	2	4	22	1	0	0	0	0	0	0	0	1	13502	697	25	2		2	RNF149	2	101905443	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	280754	101905443	141293930	2629	4775											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Missense_Mutation_p.S283N|IL1R2_ENST00000441002.1_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													61	324					0	0	1	0	0	A	102641091	G	A	102641091	3	1	22	1	0	0	0	0	1	0	0	0	7703	971	34	2	870	2	IL1R2	2	102641091	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	735648	102641091	140558282	2630	4776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000441515.2_Silent_p.Y89Y|IL1RL2_ENST00000539491.1_Silent_p.Y206Y|IL1RL2_ENST00000481806.1_3'UTR	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													34	186					0	0	1	0	0	T	102818144	C	T	102818144	2	4	22	1	0	0	0	0	0	0	0	1	7708	547	19	1		1	IL1RL2	2	102818144	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177053	102818144	140381229	2631	4777											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	329					0	0	1	0	0	T	103013310	C	T	103013310	2	4	22	1	0	0	0	0	0	0	0	1	7691	535	19	1		1	IL18R1	2	103013310	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195166	103013310	140186063	2632	4778											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	464					0	0	1	0	0	C	103068334	T	C	103068334	3	2	22	1	0	0	0	0	1	0	0	0	7692	1696	59	3	1531	3	IL18RAP	2	103068334	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	55024	103068334	140131039	2633	4779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	469					3.27435e-08	3.41456e-08	1	1	0	A	103095444	C	A	103095444	3	1	22	1	0	0	0	0	1	0	0	0	14771	680	24	2	409	2	SLC9A4	2	103095444	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27110	103095444	140103929	2634	4780											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													346	1056					9.08309e-95	1.16699e-94	1	1	0	A	103141507	C	A	103141507	3	1	22	1	0	0	0	0	1	0	0	0	14771	681	24	2	1881	2	SLC9A4	2	103141507	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46063	103141507	140057866	2635	4781											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	1003					0.105934	0.106132	1	1	0	A	103281562	C	A	103281562	3	1	22	1	0	0	0	0	1	0	0	0	14767	680	24	2	767	2	SLC9A2	2	103281562	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140055	103281562	139917811	2636	4782											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	514					0	0	1	0	0	A	103300642	G	A	103300642	2	1	22	1	0	0	0	0	0	0	0	1	14767	1277	45	2		2	SLC9A2	2	103300642	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19080	103300642	139898731	2637	4783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	288					0	0	1	0	0	C	103353247	T	C	103353247	3	2	22	1	0	0	0	0	1	0	0	0	9589	1667	58	3	1425	3	MFSD9	2	103353247	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	52605	103353247	139846126	2638	4784											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409173.1_Intron|TMEM182_ENST00000409528.1_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													76	327					5.7554e-21	6.47049e-21	1	1	0	T	103378707	G	T	103378707	3	4	22	1	0	0	0	0	1	0	0	0	16161	971	34	2	33	2	TMEM182	2	103378707	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25460	103378707	139820666	2639	4785											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409173.1_Missense_Mutation_p.R70H|TMEM182_ENST00000409528.1_Missense_Mutation_p.R17H|TMEM182_ENST00000486293.1_3'UTR	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													135	355					0	0	1	0	0	A	103414328	G	A	103414328	3	1	22	1	0	0	0	0	1	0	0	0	16161	1145	40	1	352	1	TMEM182	2	103414328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35621	103414328	139785045	2640	4786											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409173.1_Missense_Mutation_p.A130T|TMEM182_ENST00000409528.1_Missense_Mutation_p.A77T|TMEM182_ENST00000486293.1_Intron	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													43	135					0	0	1	0	0	A	103431254	G	A	103431254	3	1	22	1	0	0	0	0	1	0	0	0	16161	1203	42	2	535	2	TMEM182	2	103431254	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16926	103431254	139768119	2641	4787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	351					0	0	1	0	0	T	105915065	C	T	105915065	2	4	22	1	0	0	0	0	0	0	0	1	15884	755	27	1		1	TGFBRAP1	2	105915065	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2483811	105915065	137284308	2642	4788											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													174	850					0	0	1	0	0	T	105924245	C	T	105924245	3	4	22	1	0	0	0	0	1	0	0	0	15884	768	27	1	2112	1	TGFBRAP1	2	105924245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9180	105924245	137275128	2643	4789											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	172					0	0	1	0	0	T	105954037	C	T	105954037	3	4	22	1	0	0	0	0	1	0	0	0	2185	783	27	1		1	C2orf49	2	105954037	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29792	105954037	137245336	2644	4790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105977891C>T	ENST00000409177.1	-	6	1158	c.1036_splice	c.e6-1	p.G346_splice	FHL2_ENST00000344213.4_Splice_Site_p.G340_splice|FHL2_ENST00000336660.5_3'UTR|FHL2_ENST00000393353.3_Splice_Site_p.G230_splice|FHL2_ENST00000322142.8_Splice_Site_p.G230_splice|FHL2_ENST00000409807.1_Splice_Site_p.G230_splice|FHL2_ENST00000408995.1_Splice_Site_p.G230_splice|FHL2_ENST00000393352.3_Splice_Site_p.G230_splice|FHL2_ENST00000358129.4_Splice_Site_p.G230_splice			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													56	303					0	0	1	0	0	T	105977891	C	T	105977891	5	4	22	1	0	0	0	0	0	0	1	0	5912	869	30	2	154	2	FHL2	2	105977891	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23854	105977891	137221482	2645	4791											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000596418.1_RNA|NCK2_ENST00000393349.2_Missense_Mutation_p.E3K|AC009505.2_ENST00000427050.2_RNA|NCK2_ENST00000522586.1_Missense_Mutation_p.E3K|NCK2_ENST00000451463.2_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													34	202					0	0	1	0	0	A	106471526	G	A	106471526	3	1	22	1	0	0	0	0	1	0	0	0	10267	943	33	2	9	2	NCK2	2	106471526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	493635	106471526	136727847	2646	4792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393349.2_Missense_Mutation_p.A298T|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron	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													24	223					0	0	1	0	0	A	106498449	G	A	106498449	3	1	22	1	0	0	0	0	1	0	0	0	10267	1087	38	1	898	1	NCK2	2	106498449	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26923	106498449	136700924	2647	4793											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393349.2_Silent_p.A326A|NCK2_ENST00000522586.1_3'UTR|NCK2_ENST00000451463.2_3'UTR	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													86	233					0	0	1	0	0	A	106509467	G	A	106509467	2	1	22	1	0	0	0	0	0	0	0	1	10267	1132	40	1		1	NCK2	2	106509467	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11018	106509467	136689906	2648	4794											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000238044.3_Missense_Mutation_p.A52V|C2orf40_ENST00000489174.1_3'UTR			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	52						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						ACTAAAGTGGCCGTTGATGAG	0.522													142	839					0	0	1	0	0	T	106690369	C	T	106690369	3	4	22	1	0	0	0	0	1	0	0	0	2179	739	26	2	165	2	C2orf40	2	106690369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180902	106690369	136509004	2649	4795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	312					0	0	1	0	0	A	106694297	G	A	106694297	3	1	22	1	0	0	0	0	1	0	0	0	2179	1145	40	1	376	1	C2orf40	2	106694297	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3928	106694297	136505076	2650	4796											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	339					0	0	1	0	0	G	106739525	A	G	106739525	2	3	22	1	0	0	0	0	0	0	0	1	17169	156	6	3		3	UXS1	2	106739525	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45228	106739525	136459848	2651	4797											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	31					0.000442599	0.000448314	1	1	0	A	106781241	C	A	106781241	3	1	22	1	0	0	0	0	1	0	0	0	17169	695	24	2	1192	2	UXS1	2	106781241	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41716	106781241	136418132	2652	4798											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													182	506					0	0	1	0	0	T	108609485	C	T	108609485	3	4	22	1	0	0	0	0	1	0	0	0	14725	652	23	1	360	1	SLC5A7	2	108609485	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1828244	108609485	134589888	2653	4799											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	383					0	0	1	0	0	T	108609533	C	T	108609533	3	4	22	1	0	0	0	0	1	0	0	0	14725	681	24	2	408	2	SLC5A7	2	108609533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48	108609533	134589840	2654	4800											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	477					2.6416e-12	2.83477e-12	1	1	0	A	108622641	C	A	108622641	3	1	22	1	0	0	0	0	1	0	0	0	14725	739	26	2	900	2	SLC5A7	2	108622641	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13108	108622641	134576732	2655	4801											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	421					0	0	1	0	0	T	108626966	C	T	108626966	2	4	22	1	0	0	0	0	0	0	0	1	14725	784	28	2		2	SLC5A7	2	108626966	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4325	108626966	134572407	2656	4802											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													235	1090					0	0	1	0	0	G	108998883	A	G	108998883	3	3	22	1	0	0	0	0	1	0	0	0	15435	14	1	3	348	3	SULT1C4	2	108998883	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	371917	108998883	134200490	2657	4803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_852118.1	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													71	236					0	0	1	0	0	G	109088536	A	G	109088536	2	3	22	1	0	0	0	0	0	0	0	1	6326	98	4	3		3	GCC2	2	109088536	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	89653	109088536	134110837	2658	4804											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													460	1215					1.39281e-119	1.79332e-119	1	1	0	T	109352168	G	T	109352168	3	4	22	1	0	0	0	0	1	0	0	0	13080	971	34	2	604	2	RANBP2	2	109352168	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263632	109352168	133847205	2659	4805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													196	597					0	0	1	0	0	T	109367806	C	T	109367806	4	4	22	1	0	0	0	0	0	1	0	0	13080	644	23	1	1398	1	RANBP2	2	109367806	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15638	109367806	133831567	2660	4806											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	560					0	0	1	0	0	A	109380402	G	A	109380402	3	1	22	1	0	0	0	0	1	0	0	0	13080	1261	44	2	3485	2	RANBP2	2	109380402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12596	109380402	133818971	2661	4807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													507	1411					8.83186e-137	1.1375e-136	1	1	0	T	109383227	G	T	109383227	4	4	22	1	0	0	0	0	0	1	0	0	13080	943	33	2	6310	2	RANBP2	2	109383227	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2825	109383227	133816146	2662	4808											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	195					0	0	1	0	0	C	109389383	A	C	109389383	3	2	22	1	0	0	0	0	1	0	0	0	13080	15	1	3	8263	3	RANBP2	2	109389383	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6156	109389383	133809990	2663	4809											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													182	510					2.56026e-83	3.27821e-83	1	1	0	A	109473334	C	A	109473334	3	1	22	1	0	0	0	0	1	0	0	0	2790	797	28	2	1651	2	CCDC138	2	109473334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83951	109473334	133726039	2664	4810											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	188					3.1711e-36	3.79393e-36	1	1	0	A	109524431	C	A	109524431	3	1	22	1	0	0	0	0	1	0	0	0	4931	797	28	2	510	2	EDAR	2	109524431	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51097	109524431	133674942	2665	4811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	108					0	0	1	0	0	T	109964294	C	T	109964294	2	4	22	1	0	0	0	0	0	0	0	1	14315	796	28	2		2	SH3RF3	2	109964294	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	439863	109964294	133235079	2666	4812											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	43					0	0	1	0	0	A	110036048	G	A	110036048	2	1	22	1	0	0	0	0	0	0	0	1	14315	1103	39	1		1	SH3RF3	2	110036048	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71754	110036048	133163325	2667	4813											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	131					0	0	1	0	0	A	110065683	G	A	110065683	3	1	22	1	0	0	0	0	1	0	0	0	14315	1087	38	1	1916	1	SH3RF3	2	110065683	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29635	110065683	133133690	2668	4814											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110323436C>A	ENST00000356688.4	-	7	1078	c.762_splice	c.e7-1	p.G255_splice	SEPT10_ENST00000334001.6_Splice_Site_p.G122_splice|SEPT10_ENST00000415095.1_Splice_Site_p.G255_splice|SEPT10_ENST00000397714.2_Splice_Site_p.G232_splice|SEPT10_ENST00000545389.1_Splice_Site_p.G88_splice|SEPT10_ENST00000437928.1_Splice_Site_p.G240_splice|SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000397712.2_Splice_Site_p.G255_splice			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													54	540					2.76378e-25	3.16915e-25	1	1	0	A	110323436	C	A	110323436	5	1	22	1	0	0	0	0	0	0	1	0	14114	637	22	2	621	2	SEPT10	2	110323436	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257753	110323436	132875937	2669	4815											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417665.1_Intron|NPHP1_ENST00000393272.3_Intron|NPHP1_ENST00000316534.4_Intron|NPHP1_ENST00000445609.2_Intron|NPHP1_ENST00000355301.4_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													9	436					0	0	1	0	0	T	110935995	C	T	110935995	3	4	22	1	0	0	0	0	1	0	0	0	10626	725	25	2		2	NPHP1	2	110935995	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	612559	110935995	132263378	2670	4816											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417665.1_Missense_Mutation_p.A100D|NPHP1_ENST00000393272.3_Missense_Mutation_p.A100D|NPHP1_ENST00000445609.2_Missense_Mutation_p.A100D|NPHP1_ENST00000418527.1_Missense_Mutation_p.A100D|NPHP1_ENST00000355301.4_Intron			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													119	336					2.51135e-46	3.08402e-46	1	1	0	T	110936030	G	T	110936030	3	4	22	1	0	0	0	0	1	0	0	0	10626	971	34	2	1970	2	NPHP1	2	110936030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35	110936030	132263343	2671	4817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409311.1_Intron|BUB1_ENST00000302759.6_Silent_p.V908V|BUB1_ENST00000478175.1_5'UTR	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													120	565					4.61678e-68	5.85161e-68	1	1	0	A	111398943	C	A	111398943	2	1	22	1	0	0	0	0	0	0	0	1	1573	697	25	2		2	BUB1	2	111398943	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	462913	111398943	131800430	2672	4818											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000439055.1_Nonsense_Mutation_p.W59*|ACOXL_ENST00000340561.4_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													106	637					0	0	1	0	0	A	111551244	G	A	111551244	4	1	22	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	2673	4819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000439055.1_Silent_p.G190G|ACOXL_ENST00000340561.4_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													86	302					0	0	1	0	0	A	111559251	G	A	111559251	2	1	22	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	2674	4820											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	213					0	0	1	0	0	T	112601003	C	T	112601003	3	4	22	1	0	0	0	0	1	0	0	0	594	797	28	2	3936	2	ANAPC1	2	112601003	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1041752	112601003	130598370	2675	4821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	208					0	0	1	0	0	T	112638284	C	T	112638284	3	4	22	1	0	0	0	0	1	0	0	0	594	768	27	1	5903	1	ANAPC1	2	112638284	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37281	112638284	130561089	2676	4822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	265					0	0	1	0	0	T	112722774	C	T	112722774	3	4	22	1	0	0	0	0	1	0	0	0	9529	536	19	1	782	1	MERTK	2	112722774	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84490	112722774	130476599	2677	4823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	243					1.64915e-30	1.93527e-30	1	1	0	T	112766019	G	T	112766019	3	4	22	1	0	0	0	0	1	0	0	0	9529	942	33	2	1981	2	MERTK	2	112766019	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43245	112766019	130433354	2678	4824											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	415					0	0	1	0	0	A	112779036	G	A	112779036	3	1	22	1	0	0	0	0	1	0	0	0	9529	1116	39	1	2293	1	MERTK	2	112779036	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13017	112779036	130420337	2679	4825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112942917G>A	ENST00000331203.2	+	7	1218		c.e7+1		FBLN7_ENST00000409450.3_Splice_Site|FBLN7_ENST00000409903.1_Splice_Site|FBLN7_ENST00000409667.3_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													19	323					0	0	1	0	0	A	112942917	G	A	112942917	5	1	22	1	0	0	0	0	0	0	1	0	5734	1391	48	2	974	2	FBLN7	2	112942917	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163881	112942917	130256456	2680	4826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409450.3_Missense_Mutation_p.D349G|FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409667.3_Missense_Mutation_p.D261G	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													158	556					0	0	1	0	0	G	112944947	A	G	112944947	3	3	22	1	0	0	0	0	1	0	0	0	5734	333	12	3	1214	3	FBLN7	2	112944947	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2030	112944947	130254426	2681	4827											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	455					0	0	1	0	0	T	113088934	C	T	113088934	2	4	22	1	0	0	0	0	0	0	0	1	17630	697	25	2		2	ZC3H6	2	113088934	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143987	113088934	130110439	2682	4828											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409894.3_Missense_Mutation_p.Y318H|POLR1B_ENST00000417433.2_Missense_Mutation_p.Y262H|POLR1B_ENST00000537335.1_Missense_Mutation_p.Y107H|POLR1B_ENST00000541869.1_Missense_Mutation_p.Y356H	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													110	332					0	0	1	0	0	C	113309541	T	C	113309541	3	2	22	1	0	0	0	0	1	0	0	0	12258	1638	57	3	974	3	POLR1B	2	113309541	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	220607	113309541	129889832	2683	4829											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409894.3_Intron|POLR1B_ENST00000417433.2_Missense_Mutation_p.R384H|POLR1B_ENST00000537335.1_Missense_Mutation_p.R229H|POLR1B_ENST00000541869.1_Missense_Mutation_p.R478H|POLR1B_ENST00000498054.1_3'UTR	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													24	188					0	0	1	0	0	A	113315647	G	A	113315647	3	1	22	1	0	0	0	0	1	0	0	0	12258	1145	40	1	1349	1	POLR1B	2	113315647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6106	113315647	129883726	2684	4830											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409894.3_Silent_p.L917L|POLR1B_ENST00000417433.2_Silent_p.L1044L|POLR1B_ENST00000537335.1_Silent_p.L889L|POLR1B_ENST00000541869.1_Silent_p.L1138L	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													140	364					0	0	1	0	0	T	113333196	C	T	113333196	2	4	22	1	0	0	0	0	0	0	0	1	12258	912	32	2		2	POLR1B	2	113333196	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17549	113333196	129866177	2685	4831											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	372					0	0	1	0	0	A	113416788	G	A	113416788	2	1	22	1	0	0	0	0	0	0	0	1	14493	1306	46	2		2	SLC20A1	2	113416788	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83592	113416788	129782585	2686	4832											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	475					9.27813e-46	1.13844e-45	1	1	0	A	113416903	C	A	113416903	3	1	22	1	0	0	0	0	1	0	0	0	14493	796	28	2	1197	2	SLC20A1	2	113416903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115	113416903	129782470	2687	4833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													177	517					0	0	1	0	0	A	113513898	G	A	113513898	2	1	22	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	2688	4834											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	217					0	0	1	0	0	A	113514322	G	A	113514322	3	1	22	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	2689	4835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	614					0	0	1	0	0	A	113588108	G	A	113588108	4	1	22	1	0	0	0	0	0	1	0	0	7695	1095	38	1	173	1	IL1B	2	113588108	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73786	113588108	129611265	2690	4836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113940351C>A	ENST00000245796.6	+	2	513	c.318C>A	c.(316-318)ccC>ccA	p.P106P	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Silent_p.P106P	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	106					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													98	213					5.01286e-43	6.11331e-43	1	1	0	A	113940351	C	A	113940351	2	1	22	1	0	0	0	0	0	0	0	1	12698	668	24	2		2	PSD4	2	113940351	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	352243	113940351	129259022	2691	4837											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113940800G>A	ENST00000245796.6	+	2	962	c.767G>A	c.(766-768)tGc>tAc	p.C256Y	PSD4_ENST00000441564.2_Missense_Mutation_p.C256Y	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	256					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													91	402					0	0	1	0	0	A	113940800	G	A	113940800	3	1	22	1	0	0	0	0	1	0	0	0	12698	1319	46	2	769	2	PSD4	2	113940800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	449	113940800	129258573	2692	4838											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113955353G>T	ENST00000245796.6	+	14	2682	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D	PSD4_ENST00000441564.2_Missense_Mutation_p.E800D	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	829	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													11	354					1.61879e-10	1.71755e-10	1	1	0	T	113955353	G	T	113955353	3	4	22	1	0	0	0	0	1	0	0	0	12698	933	33	2	2537	2	PSD4	2	113955353	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14553	113955353	129244020	2693	4839											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113955419G>A	ENST00000245796.6	+	14	2748	c.2553G>A	c.(2551-2553)acG>acA	p.T851T	PSD4_ENST00000441564.2_Silent_p.T822T	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	851	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													32	213					0	0	1	0	0	A	113955419	G	A	113955419	2	1	22	1	0	0	0	0	0	0	0	1	12698	1074	38	1		1	PSD4	2	113955419	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66	113955419	129243954	2694	4840											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000333145.5_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.V35I|PAX8_ENST00000263335.7_Missense_Mutation_p.V35I|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000422956.1_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.V35I|PAX8_ENST00000263334.5_Missense_Mutation_p.V35I|AC016683.6_ENST00000553869.2_RNA	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						54	260					0	0	1	0	0	T	114004419	C	T	114004419	3	4	22	1	0	0	0	0	1	0	0	0	11532	536	19	1	1164	1	PAX8	2	114004419	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49000	114004419	129194954	2695	4841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409842.1_Missense_Mutation_p.A63S|RABL2A_ENST00000376439.3_Missense_Mutation_p.A63S|RABL2A_ENST00000393167.3_Missense_Mutation_p.A63S|RABL2A_ENST00000393166.3_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													13	89					4.93089e-13	5.31412e-13	1	1	0	T	114391779	G	T	114391779	3	4	22	1	0	0	0	0	1	0	0	0	13022	971	34	2	197	2	RABL2A	2	114391779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	387360	114391779	128807594	2696	4842											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409842.1_Intron|RABL2A_ENST00000376439.3_Intron|RABL2A_ENST00000393167.3_Silent_p.T108T|RABL2A_ENST00000478880.1_3'UTR|RABL2A_ENST00000393166.3_Silent_p.T108T|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													57	346					2.03652e-46	2.50201e-46	1	1	0	A	114398497	C	A	114398497	2	1	22	1	0	0	0	0	0	0	0	1	13022	668	24	2		2	RABL2A	2	114398497	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6718	114398497	128800876	2697	4843											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	254					1.96642e-18	2.182e-18	1	1	0	A	114476770	C	A	114476770	3	1	22	1	0	0	0	0	1	0	0	0	14647	913	32	2	122	2	SLC35F5	2	114476770	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78273	114476770	128722603	2698	4844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													157	616					6.95259e-96	8.93585e-96	1	1	0	A	114501313	C	A	114501313	3	1	22	1	0	0	0	0	1	0	0	0	14647	797	28	2	1072	2	SLC35F5	2	114501313	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24543	114501313	128698060	2699	4845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000310323.8_Missense_Mutation_p.S19N|DPP10_ENST00000393147.2_Missense_Mutation_p.S30N|DPP10_ENST00000409163.1_5'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	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													54	182					0	0	1	0	0	A	116066831	G	A	116066831	3	1	22	1	0	0	0	0	1	0	0	0	4753	971	34	2	254	2	DPP10	2	116066831	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1565518	116066831	127132542	2700	4846											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000310323.8_Silent_p.L62L|DPP10_ENST00000393147.2_Silent_p.L73L|DPP10_ENST00000409163.1_Silent_p.L19L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	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													73	319					0	0	1	0	0	A	116101424	G	A	116101424	2	1	22	1	0	0	0	0	0	0	0	1	4753	1368	48	2		2	DPP10	2	116101424	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34593	116101424	127097949	2701	4847											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000310323.8_Silent_p.H75H|DPP10_ENST00000393147.2_Silent_p.H86H|DPP10_ENST00000409163.1_Silent_p.H32H	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	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													63	272					0	0	1	0	0	T	116101463	C	T	116101463	2	4	22	1	0	0	0	0	0	0	0	1	4753	535	19	1		1	DPP10	2	116101463	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39	116101463	127097910	2702	4848											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000310323.8_Missense_Mutation_p.K119E|DPP10_ENST00000393147.2_Missense_Mutation_p.K130E|DPP10_ENST00000409163.1_Missense_Mutation_p.K76E|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	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													55	190					0	0	1	0	0	G	116283483	A	G	116283483	3	3	22	1	0	0	0	0	1	0	0	0	4753	131	5	3	565	3	DPP10	2	116283483	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	182020	116283483	126915890	2703	4849											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000310323.8_Missense_Mutation_p.T356A|DPP10_ENST00000393147.2_Missense_Mutation_p.T367A|DPP10_ENST00000409163.1_Missense_Mutation_p.T313A	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	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													12	589					0	0	1	0	0	G	116520160	A	G	116520160	3	3	22	1	0	0	0	0	1	0	0	0	4753	275	10	3	1304	3	DPP10	2	116520160	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	236677	116520160	126679213	2704	4850											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	534					0	0	1	0	0	T	118582670	C	T	118582670	3	4	22	1	0	0	0	0	1	0	0	0	4368	739	26	2	1395	2	DDX18	2	118582670	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2062510	118582670	124616703	2705	4851											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	403					0	0	1	0	0	T	118583136	C	T	118583136	2	4	22	1	0	0	0	0	0	0	0	1	4368	871	31	1		1	DDX18	2	118583136	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	466	118583136	124616237	2706	4852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|CCDC93_ENST00000319432.5_Missense_Mutation_p.E104D|AC009303.1_ENST00000588042.1_RNA	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													17	239					1.99824e-07	2.07512e-07	1	1	0	A	118758448	C	A	118758448	3	1	22	1	0	0	0	0	1	0	0	0	2892	796	28	2	1667	2	CCDC93	2	118758448	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175312	118758448	124440925	2707	4853											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	266					2.12867e-53	2.65328e-53	1	1	0	A	119699912	C	A	119699912	1	1	22	1	0	0	0	0	0	0	0	0	9361	900	32	2		2	MARCO	2	119699912	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	941464	119699912	123499461	2708	4854											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	330					2.47872e-24	2.8326e-24	1	1	0	T	119727762	G	T	119727762	3	4	22	1	0	0	0	0	1	0	0	0	9361	971	34	2	282	2	MARCO	2	119727762	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27850	119727762	123471611	2709	4855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			71	782					0	0	1	0	0	A	119914429	G	A	119914429	2	1	22	1	0	0	0	0	0	0	0	1	1972	1306	46	2		2	C1QL2	2	119914429	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	186667	119914429	123284944	2710	4856											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393107.2_Intron|STEAP3_ENST00000393106.2_Intron|STEAP3_ENST00000354888.5_5'UTR|STEAP3_ENST00000409811.1_Intron|STEAP3_ENST00000450943.2_5'UTR|STEAP3_ENST00000393108.2_Intron			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													11	210					0	0	1	0	0	A	119988594	G	A	119988594	2	1	22	1	0	0	0	0	0	0	0	1	15335	1074	38	1		1	STEAP3	2	119988594	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74165	119988594	123210779	2711	4857											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393107.2_Missense_Mutation_p.S97F|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393106.2_Missense_Mutation_p.S97F|STEAP3_ENST00000409811.1_Missense_Mutation_p.S97F|STEAP3_ENST00000425223.2_Missense_Mutation_p.S97F|STEAP3_ENST00000450943.2_Missense_Mutation_p.S97F|STEAP3_ENST00000393108.2_Missense_Mutation_p.S97F|STEAP3_ENST00000393110.2_Missense_Mutation_p.S107F	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													63	148					0	0	1	0	0	T	120003362	C	T	120003362	3	4	22	1	0	0	0	0	1	0	0	0	15335	913	32	2	326	2	STEAP3	2	120003362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14768	120003362	123196011	2712	4858											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393107.2_Missense_Mutation_p.R290C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393106.2_Missense_Mutation_p.R290C|STEAP3_ENST00000409811.1_Missense_Mutation_p.R290C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R290C|STEAP3_ENST00000450943.2_Missense_Mutation_p.R290C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R290C|STEAP3_ENST00000393110.2_Missense_Mutation_p.R300C	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													11	330					0	0	1	0	0	T	120005630	C	T	120005630	3	4	22	1	0	0	0	0	1	0	0	0	15335	768	27	1	908	1	STEAP3	2	120005630	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2268	120005630	123193743	2713	4859											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000597189.1_3'UTR|PCDP1_ENST00000413369.3_Missense_Mutation_p.Q301H			Q4G0U5	PCDP1_HUMAN		301						cilium	calmodulin binding					Colorectal(110;0.196)					CGAAGCCTCAGAAGGTGAAGG	0.453													115	275					8.29381e-57	1.03815e-56	1	1	0	T	120362359	G	T	120362359	3	4	22	1	0	0	0	0	1	0	0	0	11619	933	33	2	47	2	PCDP1	2	120362359	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	356729	120362359	122837014	2714	4860											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	160					0	0	1	0	0	T	120397378	C	T	120397378	3	4	22	1	0	0	0	0	1	0	0	0	11619	710	25	2	1347	2	PCDP1	2	120397378	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35019	120397378	122801995	2715	4861											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.A236T|TMEM177_ENST00000401466.1_Missense_Mutation_p.A236T|TMEM177_ENST00000409951.1_Intron	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													38	335					0	0	1	0	0	A	120439135	G	A	120439135	3	1	22	1	0	0	0	0	1	0	0	0	16154	1203	42	2	708	2	TMEM177	2	120439135	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41757	120439135	122760238	2716	4862											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120692377C>T	ENST00000263708.2	+	15	1969	c.1196_splice	c.e15-1	p.R400_splice	PTPN4_ENST00000544261.1_Splice_Site_p.R33_splice	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													17	184					0	0	1	0	0	T	120692377	C	T	120692377	5	4	22	1	0	0	0	0	0	0	1	0	12842	898	31	1	1252	1	PTPN4	2	120692377	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	253242	120692377	122506996	2717	4863											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	247					0	0	1	0	0	T	120692461	C	T	120692461	3	4	22	1	0	0	0	0	1	0	0	0	12842	623	22	2	1336	2	PTPN4	2	120692461	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84	120692461	122506912	2718	4864											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	518					5.08636e-23	5.77245e-23	1	1	0	A	120718447	C	A	120718447	3	1	22	1	0	0	0	0	1	0	0	0	12842	565	20	2	2284	2	PTPN4	2	120718447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25986	120718447	122480926	2719	4865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443902.2_Missense_Mutation_p.N597S|EPB41L5_ENST00000452780.1_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													8	140					0	0	1	0	0	G	120903862	A	G	120903862	3	3	22	1	0	0	0	0	1	0	0	0	5185	43	2	3	2049	3	EPB41L5	2	120903862	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	185415	120903862	122295511	2720	4866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000474855.2_Missense_Mutation_p.R157W|RALB_ENST00000470417.1_3'UTR|RALB_ENST00000420510.1_Missense_Mutation_p.R135W|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													63	516					0	0	1	0	0	T	121047235	C	T	121047235	3	4	22	1	0	0	0	0	1	0	0	0	13063	759	27	1	413	1	RALB	2	121047235	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143373	121047235	122152138	2721	4867											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R582W|GLI2_ENST00000314490.11_Missense_Mutation_p.R254W			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													125	984					0	0	1	0	0	T	121742107	C	T	121742107	3	4	22	1	0	0	0	0	1	0	0	0	6480	643	23	1	1786	1	GLI2	2	121742107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	694872	121742107	121457266	2722	4868											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Silent_p.G680G|GLI2_ENST00000314490.11_Silent_p.G352G			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													19	344					0	0	1	0	0	T	121743937	C	T	121743937	2	4	22	1	0	0	0	0	0	0	0	1	6480	755	27	1		1	GLI2	2	121743937	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1830	121743937	121455436	2723	4869											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361492.4_Missense_Mutation_p.R720C|GLI2_ENST00000314490.11_Missense_Mutation_p.R392C			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													18	242					0	0	1	0	0	T	121744055	C	T	121744055	3	4	22	1	0	0	0	0	1	0	0	0	6480	768	27	1	2204	1	GLI2	2	121744055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118	121744055	121455318	2724	4870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	137					0	0	1	0	0	T	122005784	C	T	122005784	3	4	22	1	0	0	0	0	1	0	0	0	15856	893	31	1	1023	1	TFCP2L1	2	122005784	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	261729	122005784	121193589	2725	4871											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545861.1_Missense_Mutation_p.P78S|CLASP1_ENST00000409078.3_Missense_Mutation_p.P310S|CLASP1_ENST00000541859.1_Missense_Mutation_p.P79S|CLASP1_ENST00000541377.1_Missense_Mutation_p.P310S|CLASP1_ENST00000455322.2_Missense_Mutation_p.P310S|CLASP1_ENST00000397587.3_Missense_Mutation_p.P310S|CLASP1_ENST00000430234.1_5'UTR	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													22	46					0	0	1	0	0	A	122220119	G	A	122220119	3	1	22	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	2726	4872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	340					2.85442e-18	3.16582e-18	1	1	0	T	122489716	G	T	122489716	3	4	22	1	0	0	0	0	1	0	0	0	9647	971	34	2	593	2	MKI67IP	2	122489716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	269597	122489716	120709657	2727	4873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409193.1_Missense_Mutation_p.V151A|TSN_ENST00000498545.1_3'UTR	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													159	1481					0	0	1	0	0	C	122522723	T	C	122522723	3	2	22	1	0	0	0	0	1	0	0	0	16690	1667	58	3	489	3	TSN	2	122522723	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33007	122522723	120676650	2728	4874											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	309					0	0	1	0	0	T	124783243	C	T	124783243	3	4	22	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	2729	4875											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	309					0	0	1	0	0	G	125521605	T	G	125521605	3	3	22	1	0	0	0	0	1	0	0	0	3673	1841	64	3	2473	3	CNTNAP5	2	125521605	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	738362	125521605	117677768	2730	4876											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	196					0	0	1	0	0	A	125530375	G	A	125530375	5	1	22	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	2731	4877											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	269					0	0	1	0	0	A	125530402	G	A	125530402	3	1	22	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	2732	4878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	86					3.1745e-13	3.424e-13	1	1	0	A	125555694	C	A	125555694	3	1	22	1	0	0	0	0	1	0	0	0	3673	797	28	2	3085	2	CNTNAP5	2	125555694	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25292	125555694	117643679	2733	4879											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	541					0	0	1	0	0	T	127958808	C	T	127958808	3	4	22	1	0	0	0	0	1	0	0	0	4183	797	28	2	864	2	CYP27C1	2	127958808	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2403114	127958808	115240565	2734	4880											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				91	293					0	0	1	0	0	T	128050320	C	T	128050320	3	4	22	1	0	0	0	0	1	0	0	0	5242	478	17	2	2063	2	ERCC3	2	128050320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91512	128050320	115149053	2735	4881											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	41					0	0	1	0	0	G	128065219	A	G	128065219	3	3	22	1	0	0	0	0	1	0	0	0	9300	391	14	3	67	3	MAP3K2	2	128065219	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14899	128065219	115134154	2736	4882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	82					0	0	1	0	0	A	128088062	G	A	128088062	3	1	22	1	0	0	0	0	1	0	0	0	9300	1029	36	2	1623	2	MAP3K2	2	128088062	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22843	128088062	115111311	2737	4883											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409048.1_Missense_Mutation_p.H482Y|PROC_ENST00000422777.3_Missense_Mutation_p.H448Y|PROC_ENST00000234071.3_Missense_Mutation_p.H448Y			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													183	609					0	0	1	0	0	T	128186478	C	T	128186478	3	4	22	1	0	0	0	0	1	0	0	0	12597	710	25	2	1372	2	PROC	2	128186478	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98416	128186478	115012895	2738	4884											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	IWS1_ENST00000455721.2_3'UTR|AC010976.2_ENST00000599001.1_RNA	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													34	266					0	0	1	0	0	G	128252466	A	G	128252466	3	3	22	1	0	0	0	0	1	0	0	0	7975	391	14	3	706	3	IWS1	2	128252466	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65988	128252466	114946907	2739	4885											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	IWS1_ENST00000455721.2_Missense_Mutation_p.A444S|AC010976.2_ENST00000599001.1_RNA	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													18	599					5.3912e-06	5.54037e-06	1	1	0	A	128261063	C	A	128261063	3	1	22	1	0	0	0	0	1	0	0	0	7975	797	28	2	1194	2	IWS1	2	128261063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8597	128261063	114938310	2740	4886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	121					0	0	1	0	0	T	128366289	C	T	128366289	2	4	22	1	0	0	0	0	0	0	0	1	10131	796	28	2		2	MYO7B	2	128366289	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105226	128366289	114833084	2741	4887											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409816.2_Missense_Mutation_p.S1233I|MYO7B_ENST00000409090.1_Missense_Mutation_p.S86I|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													24	131					1.10923e-09	1.16946e-09	1	1	0	T	128380907	G	T	128380907	3	4	22	1	0	0	0	0	1	0	0	0	10131	971	34	2	3804	2	MYO7B	2	128380907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14618	128380907	114818466	2742	4888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409816.2_Silent_p.G1730G|MYO7B_ENST00000409090.1_Silent_p.G583G|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													8	220					0.000274275	0.000278163	1	1	0	A	128389839	C	A	128389839	2	1	22	1	0	0	0	0	0	0	0	1	10131	784	28	2		2	MYO7B	2	128389839	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8932	128389839	114809534	2743	4889											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	GPR17_ENST00000393018.3_Silent_p.S154S|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000272644.3_Silent_p.S154S|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000410011.1_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													62	682					0	0	1	0	0	T	128408687	C	T	128408687	2	4	22	1	0	0	0	0	0	0	0	1	6707	767	27	1		1	GPR17	2	128408687	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18848	128408687	114790686	2744	4890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000324938.5_Missense_Mutation_p.G143D|LIMS2_ENST00000355119.4_Missense_Mutation_p.G119D|LIMS2_ENST00000409808.2_Missense_Mutation_p.G114D|LIMS2_ENST00000545738.2_Missense_Mutation_p.G141D|LIMS2_ENST00000410011.1_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													90	415					0	0	1	0	0	T	128412001	C	T	128412001	3	4	22	1	0	0	0	0	1	0	0	0	8844	739	26	2	697	2	LIMS2	2	128412001	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3314	128412001	114787372	2745	4891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													215	1107					0	0	1	0	0	A	128471362	G	A	128471362	4	1	22	1	0	0	0	0	0	1	0	0	17347	1095	38	1	927	1	WDR33	2	128471362	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59361	128471362	114728011	2746	4892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	181					0	0	1	0	0	T	128495607	C	T	128495607	3	4	22	1	0	0	0	0	1	0	0	0	17347	536	19	1	3378	1	WDR33	2	128495607	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24245	128495607	114703766	2747	4893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393006.1_Nonsense_Mutation_p.E4*|WDR33_ENST00000409658.3_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													6	223					3.59834e-05	3.67436e-05	1	1	0	A	128528546	C	A	128528546	4	1	22	1	0	0	0	0	0	1	0	0	17347	922	32	2	4493	2	WDR33	2	128528546	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32939	128528546	114670827	2748	4894	31	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393006.1_Missense_Mutation_p.A2T|WDR33_ENST00000409658.3_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													34	181					0	0	1	0	0	T	128528552	C	T	128528552	3	4	22	1	0	0	0	0	1	0	0	0	17347	739	26	2	4499	2	WDR33	2	128528552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6	128528552	114670821	2749	4895	31	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	599					0	0	1	0	0	T	128622692	C	T	128622692	2	4	22	1	0	0	0	0	0	0	0	1	575	755	27	1		1	AMMECR1L	2	128622692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94140	128622692	114576681	2750	4896											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	333					1.25929e-39	1.52335e-39	1	1	0	A	128627035	C	A	128627035	3	1	22	1	0	0	0	0	1	0	0	0	575	680	24	2	227	2	AMMECR1L	2	128627035	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4343	128627035	114572338	2751	4897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	170					2.0095e-06	2.07161e-06	1	1	0	T	128628468	G	T	128628468	2	4	22	1	0	0	0	0	0	0	0	1	575	1124	39	4		4	AMMECR1L	2	128628468	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1433	128628468	114570905	2752	4898											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000259234.6_Nonsense_Mutation_p.R1052*|SAP130_ENST00000259235.3_Nonsense_Mutation_p.R1044*	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													112	589					0	0	1	0	0	A	128699597	G	A	128699597	4	1	22	1	0	0	0	0	0	1	0	0	13883	1095	38	1	20	1	SAP130	2	128699597	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71129	128699597	114499776	2753	4899											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000259234.6_Silent_p.Q556Q|SAP130_ENST00000259235.3_Silent_p.Q582Q	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													66	402					0	0	1	0	0	T	128747250	C	T	128747250	2	4	22	1	0	0	0	0	0	0	0	1	13883	796	28	2		2	SAP130	2	128747250	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47653	128747250	114452123	2754	4900											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000259234.6_Missense_Mutation_p.P553S|SAP130_ENST00000259235.3_Missense_Mutation_p.P579S	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													62	403					0	0	1	0	0	A	128747261	G	A	128747261	3	1	22	1	0	0	0	0	1	0	0	0	13883	1232	43	2	1552	2	SAP130	2	128747261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11	128747261	114452112	2755	4901											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	219					1.08052e-11	1.15422e-11	1	1	0	T	128927887	G	T	128927887	3	4	22	1	0	0	0	0	1	0	0	0	17001	1000	35	2	3053	2	UGGT1	2	128927887	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180626	128927887	114271486	2756	4902											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	204					0	0	1	0	0	A	129026007	G	A	129026007	3	1	22	1	0	0	0	0	1	0	0	0	7411	1145	40	1	274	1	HS6ST1	2	129026007	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98120	129026007	114173366	2757	4903											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	141					0	0	1	0	0	A	129026052	G	A	129026052	3	1	22	1	0	0	0	0	1	0	0	0	7411	1145	40	1	319	1	HS6ST1	2	129026052	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	129026052	114173321	2758	4904											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	376					0	0	1	0	0	G	130738170	A	G	130738170	3	3	22	1	0	0	0	0	1	0	0	0	13005	391	14	3	484	3	RAB6C	2	130738170	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1712118	130738170	112461203	2759	4905											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409914.2_Silent_p.C72C|POTEF_ENST00000360967.5_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													55	1308					0	0	1	0	0	A	130877873	G	A	130877873	2	1	22	1	0	0	0	0	0	0	0	1	12312	1311	46	2		2	POTEF	2	130877873	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139703	130877873	112321500	2760	4906											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000452225.2_5'UTR|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000431183.2_Missense_Mutation_p.K204Q|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000426662.2_5'UTR|SMPD4_ENST00000351288.6_Missense_Mutation_p.K277Q|SMPD4_ENST00000339679.7_Missense_Mutation_p.K164Q|SMPD4_ENST00000443958.2_5'UTR	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													34	287					0	0	1	0	0	G	130925111	T	G	130925111	3	3	22	1	0	0	0	0	1	0	0	0	14861	1850	64	3	1819	3	SMPD4	2	130925111	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47238	130925111	112274262	2761	4907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_997195.1	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													71	455					0	0	1	0	0	T	130949639	C	T	130949639	3	4	22	1	0	0	0	0	1	0	0	0	16810	652	23	1	238	1	TUBA3E	2	130949639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24528	130949639	112249734	2762	4908											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_997195.1	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													27	741					0	0	1	0	0	T	130951729	C	T	130951729	3	4	22	1	0	0	0	0	1	0	0	0	16810	768	27	1	674	1	TUBA3E	2	130951729	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2090	130951729	112247644	2763	4909											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_997195.1	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													12	566					0	0	1	0	0	T	130951874	C	T	130951874	3	4	22	1	0	0	0	0	1	0	0	0	16810	536	19	1	819	1	TUBA3E	2	130951874	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145	130951874	112247499	2764	4910											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437688.2_3'UTR|CCDC115_ENST00000409127.1_Missense_Mutation_p.R161W	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													6	240					0	0	1	0	0	A	131096740	G	A	131096740	3	1	22	1	0	0	0	0	1	0	0	0	2770	1115	39	1	50	1	CCDC115	2	131096740	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144866	131096740	112102633	2765	4911											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	513					1.22119e-34	1.45331e-34	1	1	0	A	131486811	C	A	131486811	2	1	22	1	0	0	0	0	0	0	0	1	6693	610	22	2		2	GPR148	2	131486811	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	390071	131486811	111712562	2766	4912											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	246					4.92795e-40	5.96786e-40	1	1	0	A	131486869	C	A	131486869	3	1	22	1	0	0	0	0	1	0	0	0	6693	796	28	2	147	2	GPR148	2	131486869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58	131486869	111712504	2767	4913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	400					0	0	1	0	0	A	131487621	G	A	131487621	4	1	22	1	0	0	0	0	0	1	0	0	6693	1212	42	2	899	2	GPR148	2	131487621	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	752	131487621	111711752	2768	4914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525839.1_Silent_p.G273G|ARHGEF4_ENST00000409303.1_Silent_p.G273G|ARHGEF4_ENST00000326016.5_Silent_p.G273G|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000355771.3_Silent_p.G202G	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													37	73					0	0	1	0	0	T	131797660	C	T	131797660	2	4	22	1	0	0	0	0	0	0	0	1	905	755	27	1		1	ARHGEF4	2	131797660	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	310039	131797660	111401713	2769	4915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	201					0	0	1	0	0	A	131813237	G	A	131813237	2	1	22	1	0	0	0	0	0	0	0	1	5516	987	35	2		2	FAM168B	2	131813237	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15577	131813237	111386136	2770	4916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.R21M|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	21							ATP binding										TTTGGTCTCAGGAGCAAGATG	0.552													51	726					7.50695e-29	8.75429e-29	1	1	0	T	131976037	G	T	131976037	3	4	22	1	0	0	0	0	1	0	0	0	12311	1000	35	2	64	2	POTEE	2	131976037	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	162800	131976037	111223336	2771	4917											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.R36M|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	36							ATP binding										CCCTGCTACAGGGAGAGCGGC	0.567													97	1101					8.87156e-34	1.0529e-33	1	1	0	T	131976082	G	T	131976082	3	4	22	1	0	0	0	0	1	0	0	0	12311	1000	35	2	109	2	POTEE	2	131976082	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	131976082	111223291	2772	4918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.Q293H|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	283							ATP binding										TACATGAGCAAAAACAGCAAG	0.323													116	595					0	0	1	0	0	C	131984434	A	C	131984434	3	2	22	1	0	0	0	0	1	0	0	0	12311	11	1	3	863	3	POTEE	2	131984434	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8352	131984434	111214939	2773	4919											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													189	555					0	0	1	0	0	A	132237733	G	A	132237733	3	1	22	1	0	0	0	0	1	0	0	0	16809	1116	39	1	481	1	TUBA3D	2	132237733	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	253299	132237733	110961640	2774	4920											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	1352					0	0	1	0	0	A	132237807	G	A	132237807	3	1	22	1	0	0	0	0	1	0	0	0	16809	1145	40	1	555	1	TUBA3D	2	132237807	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74	132237807	110961566	2775	4921											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	614					0	0	1	0	0	A	132237952	G	A	132237952	3	1	22	1	0	0	0	0	1	0	0	0	16809	1087	38	1	700	1	TUBA3D	2	132237952	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145	132237952	110961421	2776	4922											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467992.2_5'UTR|CCDC74A_ENST00000478665.1_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.T94I	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													30	312					0	0	1	0	0	T	132287250	C	T	132287250	3	4	22	1	0	0	0	0	1	0	0	0	2867	478	17	2	287	2	CCDC74A	2	132287250	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49298	132287250	110912123	2777	4923											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000295171.6_Missense_Mutation_p.A184V|CCDC74A_ENST00000409856.3_Missense_Mutation_p.A118V			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													54	157					0	0	1	0	0	T	132289243	C	T	132289243	3	4	22	1	0	0	0	0	1	0	0	0	2867	739	26	2	565	2	CCDC74A	2	132289243	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1993	132289243	110910130	2778	4924											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Silent_p.I195I	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													72	734					2.65773e-34	3.16036e-34	1	1	0	A	132290261	C	A	132290261	2	1	22	1	0	0	0	0	0	0	0	1	2867	845	30	2		2	CCDC74A	2	132290261	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1018	132290261	110909112	2779	4925											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Nonsense_Mutation_p.R201*	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													64	673					0	0	1	0	0	T	132290277	C	T	132290277	4	4	22	1	0	0	0	0	0	1	0	0	2867	760	27	1	817	1	CCDC74A	2	132290277	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	132290277	110909096	2780	4926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_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													11	319					0	0	1	0	0	G	133402688	A	G	133402688	3	3	22	1	0	0	0	0	1	0	0	0	6733	275	10	3	877	3	GPR39	2	133402688	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1112411	133402688	109796685	2781	4927											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_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													103	302					0	0	1	0	0	T	133402959	C	T	133402959	3	4	22	1	0	0	0	0	1	0	0	0	6733	507	18	2	1148	2	GPR39	2	133402959	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271	133402959	109796414	2782	4928											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_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													43	384					0	0	1	0	0	A	133402986	G	A	133402986	3	1	22	1	0	0	0	0	1	0	0	0	6733	1087	38	1	1175	1	GPR39	2	133402986	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27	133402986	109796387	2783	4929											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000329321.3_3'UTR|GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000345008.6_Missense_Mutation_p.A24S	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													20	191					1.64113e-05	1.68037e-05	1	1	0	A	133403818	C	A	133403818	3	1	22	1	0	0	0	0	1	0	0	0	9155	739	26	2	203	2	LYPD1	2	133403818	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	832	133403818	109795555	2784	4930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.T1457T	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													8	231					0	0	1	0	0	A	133540013	G	A	133540013	2	1	22	1	0	0	0	0	0	0	0	1	10270	1103	39	1		1	NCKAP5	2	133540013	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136195	133540013	109659360	2785	4931											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.R1249R	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													51	485					0	0	1	0	0	C	133540637	T	C	133540637	2	2	22	1	0	0	0	0	0	0	0	1	10270	1432	50	3		3	NCKAP5	2	133540637	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	624	133540637	109658736	2786	4932											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D738G	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													16	304					0	0	1	0	0	C	133542171	T	C	133542171	3	2	22	1	0	0	0	0	1	0	0	0	10270	1667	58	3	3544	3	NCKAP5	2	133542171	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1534	133542171	109657202	2787	4933											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S459N	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													20	245					0	0	1	0	0	T	133543008	C	T	133543008	3	4	22	1	0	0	0	0	1	0	0	0	10270	797	28	2	4381	2	NCKAP5	2	133543008	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	837	133543008	109656365	2788	4934											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	263					0	0	1	0	0	A	135028024	G	A	135028024	2	1	22	1	0	0	0	0	0	0	0	1	9598	991	35	2		2	MGAT5	2	135028024	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1485016	135028024	108171349	2789	4935											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	506					0	0	1	0	0	G	135199477	A	G	135199477	3	3	22	1	0	0	0	0	1	0	0	0	9598	275	10	3	2076	3	MGAT5	2	135199477	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	171453	135199477	107999896	2790	4936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442034.1_Missense_Mutation_p.I807T|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.I763T|ZRANB3_ENST00000412849.1_Intron	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													124	303					0	0	1	0	0	C	135920351	T	C	135920351	3	2	22	1	0	0	0	0	1	0	0	0	12987	1435	50	3	2502	3	RAB3GAP1	2	135920351	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	720874	135920351	107279022	2791	4937											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	87					0	0	1	0	0	G	136033212	T	G	136033212	3	3	22	1	0	0	0	0	1	0	0	0	18266	1838	64	3	2211	3	ZRANB3	2	136033212	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	112861	136033212	107166161	2792	4938											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000410054.1_Silent_p.A384A|R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000409606.1_Silent_p.A440A|R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000329971.3_Intron	NM_015361.2	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													61	671					0	0	1	0	0	G	136399206	A	G	136399206	2	3	22	1	0	0	0	0	0	0	0	1	12939	146	6	3		3	R3HDM1	2	136399206	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	365994	136399206	106800167	2793	4939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409478.1_Missense_Mutation_p.P436L|R3HDM1_ENST00000329971.3_Missense_Mutation_p.P435L	NM_015361.2	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													250	749					0	0	1	0	0	T	136409370	C	T	136409370	3	4	22	1	0	0	0	0	1	0	0	0	12939	681	24	2	1749	2	R3HDM1	2	136409370	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10164	136409370	106790003	2794	4940											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409478.1_Silent_p.V948V|R3HDM1_ENST00000329971.3_Silent_p.V947V	NM_015361.2	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													15	195					0	0	1	0	0	C	136481790	T	C	136481790	2	2	22	1	0	0	0	0	0	0	0	1	12939	1741	61	3		3	R3HDM1	2	136481790	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	72420	136481790	106717583	2795	4941											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	250					0	0	1	0	0	G	136513182	T	G	136513182	2	3	22	1	0	0	0	0	0	0	0	1	16976	1596	56	3		3	UBXN4	2	136513182	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31392	136513182	106686191	2796	4942											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	175					0	0	1	0	0	G	136533888	T	G	136533888	2	3	22	1	0	0	0	0	0	0	0	1	16976	1538	54	3		3	UBXN4	2	136533888	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20706	136533888	106665485	2797	4943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													152	381					0	0	1	0	0	T	136540441	C	T	136540441	3	4	22	1	0	0	0	0	1	0	0	0	16976	855	30	2	1561	2	UBXN4	2	136540441	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6553	136540441	106658932	2798	4944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													127	351					0	0	1	0	0	A	136567505	G	A	136567505	2	1	22	1	0	0	0	0	0	0	0	1	8732	958	34	2		2	LCT	2	136567505	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27064	136567505	106631868	2799	4945											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	645					0	0	1	0	0	T	136569955	C	T	136569955	3	4	22	1	0	0	0	0	1	0	0	0	8732	623	22	2	3548	2	LCT	2	136569955	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2450	136569955	106629418	2800	4946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	375					0	0	1	0	0	T	136570077	C	T	136570077	2	4	22	1	0	0	0	0	0	0	0	1	8732	912	32	2		2	LCT	2	136570077	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122	136570077	106629296	2801	4947											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	263					1.22674e-20	1.37621e-20	1	1	0	A	136575093	C	A	136575093	4	1	22	1	0	0	0	0	0	1	0	0	8732	603	21	2	4306	2	LCT	2	136575093	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5016	136575093	106624280	2802	4948											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	201					0	0	1	0	0	A	136594308	G	A	136594308	2	1	22	1	0	0	0	0	0	0	0	1	8732	1103	39	1		1	LCT	2	136594308	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19215	136594308	106605065	2803	4949											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	235					0	0	1	0	0	A	136602132	G	A	136602132	3	1	22	1	0	0	0	0	1	0	0	0	9441	1290	45	2	141	2	MCM6	2	136602132	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7824	136602132	106597241	2804	4950											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	435					2.26627e-22	2.56399e-22	1	1	0	T	136602208	G	T	136602208	4	4	22	1	0	0	0	0	0	1	0	0	9441	1024	36	2	217	2	MCM6	2	136602208	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76	136602208	106597165	2805	4951											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	196					0	0	1	0	0	A	136610461	G	A	136610461	3	1	22	1	0	0	0	0	1	0	0	0	9441	1087	38	1	838	1	MCM6	2	136610461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8253	136610461	106588912	2806	4952	32	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	201					0	0	1	0	0	G	136610469	A	G	136610469	3	3	22	1	0	0	0	0	1	0	0	0	9441	101	4	3	846	3	MCM6	2	136610469	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8	136610469	106588904	2807	4953	32	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													134	282					0	0	1	0	0	A	136614334	G	A	136614334	2	1	22	1	0	0	0	0	0	0	0	1	9441	1049	37	1		1	MCM6	2	136614334	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3865	136614334	106585039	2808	4954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136627930C>T	ENST00000264156.2	-	3	316	c.254_splice	c.e3-1	p.V86_splice		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													218	546					0	0	1	0	0	T	136627930	C	T	136627930	5	4	22	1	0	0	0	0	0	0	1	0	9441	579	20	2	2269	2	MCM6	2	136627930	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13596	136627930	106571443	2809	4955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	465					0	0	1	0	0	T	136673868	C	T	136673868	3	4	22	1	0	0	0	0	1	0	0	0	4265	913	32	2	495	2	DARS	2	136673868	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45938	136673868	106525505	2810	4956											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	78					0.0167234	0.0167961	1	1	0	T	136872482	G	T	136872482	3	4	22	1	0	0	0	0	1	0	0	0	4116	942	33	2	46	2	CXCR4	2	136872482	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	198614	136872482	106326891	2811	4957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	437					0	0	1	0	0	C	136872944	A	C	136872944	3	2	22	1	0	0	0	0	1	0	0	0	4116	333	12	3	508	3	CXCR4	2	136872944	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	462	136872944	106326429	2812	4958											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.R599Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.R568Q					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													17	228					0	0	1	0	0	A	137988686	G	A	137988686	3	1	22	1	0	0	0	0	1	0	0	0	15940	1058	37	1	1729	1	THSD7B	2	137988686	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1115742	137988686	105210687	2813	4959											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.N1164K|THSD7B_ENST00000413152.2_Missense_Mutation_p.N1133K					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													60	641					2.93687e-30	3.44351e-30	1	1	0	A	138373804	C	A	138373804	3	1	22	1	0	0	0	0	1	0	0	0	15940	564	20	2	3461	2	THSD7B	2	138373804	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	385118	138373804	104825569	2814	4960											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	212					0	0	1	0	0	T	139318378	C	T	139318378	4	4	22	1	0	0	0	0	0	1	0	0	15141	876	31	1	744	1	SPOPL	2	139318378	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	944574	139318378	103880995	2815	4961											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:140990894G>A	ENST00000389484.3	-	91	14632	c.13659_splice	c.e91-1	p.P4554_splice		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)			19	194					0	0	1	0	0	A	140990894	G	A	140990894	5	1	22	1	0	0	0	0	0	0	1	0	9000	1362	47	2	142	2	LRP1B	2	140990894	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1672516	140990894	102208479	2816	4962											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			25	316					0	0	1	0	0	C	141032124	A	C	141032124	3	2	22	1	0	0	0	0	1	0	0	0	9000	126	5	3	816	3	LRP1B	2	141032124	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41230	141032124	102167249	2817	4963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			97	287					1.31458e-49	1.62656e-49	1	1	0	T	141113963	G	T	141113963	3	4	22	1	0	0	0	0	1	0	0	0	9000	933	33	2	2389	2	LRP1B	2	141113963	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81839	141113963	102085410	2818	4964											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			6	281					3.59834e-05	3.67436e-05	1	1	0	T	141114042	G	T	141114042	3	4	22	1	0	0	0	0	1	0	0	0	9000	1000	35	2	2468	2	LRP1B	2	141114042	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79	141114042	102085331	2819	4965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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)			115	283					0	0	1	0	0	A	141200074	G	A	141200074	5	1	22	1	0	0	0	0	0	0	1	0	9000	1101	38	1	3490	1	LRP1B	2	141200074	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86032	141200074	101999299	2820	4966											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			128	310					0	0	1	0	0	G	141208170	A	G	141208170	3	3	22	1	0	0	0	0	1	0	0	0	9000	188	7	3	3891	3	LRP1B	2	141208170	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8096	141208170	101991203	2821	4967											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			144	371					6.69687e-66	8.47057e-66	1	1	0	T	141215049	G	T	141215049	3	4	22	1	0	0	0	0	1	0	0	0	9000	942	33	2	4126	2	LRP1B	2	141215049	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6879	141215049	101984324	2822	4968											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			88	228					0	0	1	0	0	T	141242946	A	T	141242946	3	4	22	1	0	0	0	0	1	0	0	0	9000	43	2	5	4540	5	LRP1B	2	141242946	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27897	141242946	101956427	2823	4969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			71	130					0	0	1	0	0	C	141253268	A	C	141253268	3	2	22	1	0	0	0	0	1	0	0	0	9000	391	14	3	5043	3	LRP1B	2	141253268	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10322	141253268	101946105	2824	4970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			10	353					5.16669e-11	5.49905e-11	1	1	0	A	141259311	C	A	141259311	3	1	22	1	0	0	0	0	1	0	0	0	9000	565	20	2	5152	2	LRP1B	2	141259311	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6043	141259311	101940062	2825	4971											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			15	265					0	0	1	0	0	A	141283540	G	A	141283540	2	1	22	1	0	0	0	0	0	0	0	1	9000	933	33	2		2	LRP1B	2	141283540	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24229	141283540	101915833	2826	4972											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			15	189					0	0	1	0	0	C	141359166	T	C	141359166	3	2	22	1	0	0	0	0	1	0	0	0	9000	1435	50	3	7157	3	LRP1B	2	141359166	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	75626	141359166	101840207	2827	4973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			27	232					0	0	1	0	0	T	141526881	C	T	141526881	3	4	22	1	0	0	0	0	1	0	0	0	9000	835	29	2	8368	2	LRP1B	2	141526881	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167715	141526881	101672492	2828	4974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			31	351					0	0	1	0	0	G	141533752	T	G	141533752	3	3	22	1	0	0	0	0	1	0	0	0	9000	1838	64	3	8620	3	LRP1B	2	141533752	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6871	141533752	101665621	2829	4975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			16	171					0	0	1	0	0	T	141607868	C	T	141607868	3	4	22	1	0	0	0	0	1	0	0	0	9000	536	19	1	9309	1	LRP1B	2	141607868	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74116	141607868	101591505	2830	4976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			34	350					0	0	1	0	0	T	141641588	C	T	141641588	3	4	22	1	0	0	0	0	1	0	0	0	9000	478	17	2	10100	2	LRP1B	2	141641588	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33720	141641588	101557785	2831	4977											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			7	257					0	0	1	0	0	G	141660727	A	G	141660727	2	3	22	1	0	0	0	0	0	0	0	1	9000	41	2	3		3	LRP1B	2	141660727	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19139	141660727	101538646	2832	4978											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			125	297					0	0	1	0	0	G	141665573	A	G	141665573	2	3	22	1	0	0	0	0	0	0	0	1	9000	157	6	3		3	LRP1B	2	141665573	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4846	141665573	101533800	2833	4979											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			38	452					0	0	1	0	0	A	141747212	G	A	141747212	3	1	22	1	0	0	0	0	1	0	0	0	9000	1174	41	2	11440	2	LRP1B	2	141747212	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81639	141747212	101452161	2834	4980											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			73	823					0	0	1	0	0	C	141806690	T	C	141806690	3	2	22	1	0	0	0	0	1	0	0	0	9000	1464	51	3	12469	3	LRP1B	2	141806690	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	59478	141806690	101392683	2835	4981											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			12	362					0	0	1	0	0	T	141986788	C	T	141986788	3	4	22	1	0	0	0	0	1	0	0	0	9000	913	32	2	13329	2	LRP1B	2	141986788	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180098	141986788	101212585	2836	4982											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409512.1_Missense_Mutation_p.P108H|KYNU_ENST00000410015.2_Missense_Mutation_p.P108H|KYNU_ENST00000375773.2_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													212	476					1.10809e-103	1.42563e-103	1	1	0	A	143685260	C	A	143685260	3	1	22	1	0	0	0	0	1	0	0	0	8626	681	24	2	333	2	KYNU	2	143685260	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1698472	143685260	99514113	2837	4983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409512.1_Silent_p.S274S|KYNU_ENST00000375773.2_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													33	401					9.65021e-13	1.03847e-12	1	1	0	A	143742745	C	A	143742745	2	1	22	1	0	0	0	0	0	0	0	1	8626	668	24	2		2	KYNU	2	143742745	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57485	143742745	99456628	2838	4984											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	237					2.75338e-15	3.00596e-15	1	1	0	T	143959710	G	T	143959710	3	4	22	1	0	0	0	0	1	0	0	0	863	942	33	2	179	2	ARHGAP15	2	143959710	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	216965	143959710	99239663	2839	4985											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	219					0	0	1	0	0	A	143974006	G	A	143974006	2	1	22	1	0	0	0	0	0	0	0	1	863	933	33	2		2	ARHGAP15	2	143974006	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14296	143974006	99225367	2840	4986											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:144764985A>G	ENST00000409214.1	-	7	917	c.639T>C	c.(637-639)gaT>gaC	p.D213D	GTDC1_ENST00000344850.4_Silent_p.D213D|GTDC1_ENST00000392869.1_Silent_p.D213D|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000241391.5_Silent_p.D213D|GTDC1_ENST00000463875.2_Silent_p.D84D|GTDC1_ENST00000542155.1_Silent_p.D213D|GTDC1_ENST00000392867.3_Silent_p.D213D	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	213					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													35	373					0	0	1	0	0	G	144764985	A	G	144764985	2	3	22	1	0	0	0	0	0	0	0	1	6892	98	4	3		3	GTDC1	2	144764985	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	790979	144764985	98434388	2841	4987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409487.3_Missense_Mutation_p.D1175G|ZEB2_ENST00000303660.4_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													96	1082					0	0	1	0	0	C	145147139	T	C	145147139	3	2	22	1	0	0	0	0	1	0	0	0	17682	1435	50	3	124	3	ZEB2	2	145147139	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	382154	145147139	98052234	2842	4988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409487.3_Nonsense_Mutation_p.R921*|ZEB2_ENST00000303660.4_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													58	601					0	0	1	0	0	A	145155993	G	A	145155993	4	1	22	1	0	0	0	0	0	1	0	0	17682	1153	40	1	895	1	ZEB2	2	145155993	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8854	145155993	98043380	2843	4989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409487.3_Nonsense_Mutation_p.Q615*|ZEB2_ENST00000303660.4_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													117	243					0	0	1	0	0	A	145156911	G	A	145156911	4	1	22	1	0	0	0	0	0	1	0	0	17682	1328	46	2	1813	2	ZEB2	2	145156911	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	918	145156911	98042462	2844	4990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409487.3_Silent_p.F241F|ZEB2_ENST00000303660.4_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													68	599					0	0	1	0	0	G	145161567	A	G	145161567	2	3	22	1	0	0	0	0	0	0	0	1	17682	11	1	3		3	ZEB2	2	145161567	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4656	145161567	98037806	2845	4991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409487.3_Missense_Mutation_p.K43E|ZEB2_ENST00000303660.4_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													99	244					0	0	1	0	0	C	145187540	T	C	145187540	3	2	22	1	0	0	0	0	1	0	0	0	17682	1821	63	3	3549	3	ZEB2	2	145187540	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25973	145187540	98011833	2846	4992											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	969					0	0	1	0	0	A	148680620	G	A	148680620	3	1	22	1	0	0	0	0	1	0	0	0	222	942	33	2	1190	2	ACVR2A	2	148680620	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3493080	148680620	94518753	2847	4993											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	339					0	0	1	0	0	A	149243447	G	A	149243447	2	1	22	1	0	0	0	0	0	0	0	1	9397	1132	40	1		1	MBD5	2	149243447	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	562827	149243447	93955926	2848	4994											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	286					0	0	1	0	0	T	149247325	C	T	149247325	3	4	22	1	0	0	0	0	1	0	0	0	9397	768	27	1	3451	1	MBD5	2	149247325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3878	149247325	93952048	2849	4995											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	355					9.39395e-14	1.01619e-13	1	1	0	T	149248116	G	T	149248116	4	4	22	1	0	0	0	0	0	1	0	0	9397	943	33	2	4242	2	MBD5	2	149248116	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	791	149248116	93951257	2850	4996	33	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	273					0	0	1	0	0	T	149248121	C	T	149248121	2	4	22	1	0	0	0	0	0	0	0	1	9397	535	19	1		1	MBD5	2	149248121	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	149248121	93951252	2851	4997	33	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	62					0	0	1	0	0	G	149519453	A	G	149519453	3	3	22	1	0	0	0	0	1	0	0	0	5189	43	2	3	787	3	EPC2	2	149519453	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	271332	149519453	93679920	2852	4998											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	504					0	0	1	0	0	A	149528914	G	A	149528914	3	1	22	1	0	0	0	0	1	0	0	0	5189	971	34	2	1716	2	EPC2	2	149528914	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9461	149528914	93670459	2853	4999	34	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	514					0	0	1	0	0	T	149528924	C	T	149528924	3	4	22	1	0	0	0	0	1	0	0	0	5189	797	28	2	1726	2	EPC2	2	149528924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10	149528924	93670449	2854	5000	34	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149866864C>T	ENST00000435030.1	+	24	3134	c.2767_splice	c.e24+1	p.I922_splice	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Splice_Site_p.I827_splice|KIF5C_ENST00000397413.1_Splice_Site_p.I690_splice			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													16	38					0	0	1	0	0	T	149866864	C	T	149866864	5	4	22	1	0	0	0	0	0	0	1	0	8349	898	31	1	2782	1	KIF5C	2	149866864	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	337940	149866864	93332509	2855	5001											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409557.1_Missense_Mutation_p.A43T|RND3_ENST00000263895.4_Missense_Mutation_p.A172T	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													108	300					0	0	1	0	0	T	151326722	C	T	151326722	3	4	22	1	0	0	0	0	1	0	0	0	13473	797	28	2	224	2	RND3	2	151326722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1459858	151326722	91872651	2856	5002											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152298469A>G	ENST00000243326.4	+	15	2181	c.1698A>G	c.(1696-1698)tcA>tcG	p.S566S	RIF1_ENST00000444746.2_Silent_p.S566S|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000453091.2_Silent_p.S566S|RIF1_ENST00000428287.2_Silent_p.S566S|RIF1_ENST00000430328.2_Silent_p.S566S			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	566					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													6	236					0	0	1	0	0	G	152298469	A	G	152298469	2	3	22	1	0	0	0	0	0	0	0	1	13409	146	6	3		3	RIF1	2	152298469	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	971747	152298469	90900904	2857	5003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152311610C>A	ENST00000243326.4	+	21	3029	c.2546C>A	c.(2545-2547)tCt>tAt	p.S849Y	RIF1_ENST00000444746.2_Missense_Mutation_p.S849Y|RIF1_ENST00000453091.2_Missense_Mutation_p.S849Y|RIF1_ENST00000428287.2_Missense_Mutation_p.S849Y|RIF1_ENST00000430328.2_Missense_Mutation_p.S849Y			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	849					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													117	521					1.76152e-51	2.18623e-51	1	1	0	A	152311610	C	A	152311610	3	1	22	1	0	0	0	0	1	0	0	0	13409	913	32	2	2628	2	RIF1	2	152311610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13141	152311610	90887763	2858	5004											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152320230T>C	ENST00000243326.4	+	29	4679	c.4196T>C	c.(4195-4197)gTa>gCa	p.V1399A	RIF1_ENST00000444746.2_Missense_Mutation_p.V1399A|RIF1_ENST00000453091.2_Missense_Mutation_p.V1399A|RIF1_ENST00000428287.2_Missense_Mutation_p.V1399A|RIF1_ENST00000430328.2_Missense_Mutation_p.V1399A			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1399					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													142	408					0	0	1	0	0	C	152320230	T	C	152320230	3	2	22	1	0	0	0	0	1	0	0	0	13409	1638	57	3	4310	3	RIF1	2	152320230	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8620	152320230	90879143	2859	5005											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152321120G>T	ENST00000243326.4	+	29	5569	c.5086G>T	c.(5086-5088)Gaa>Taa	p.E1696*	RIF1_ENST00000444746.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000453091.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000428287.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000430328.2_Nonsense_Mutation_p.E1696*			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1696					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													10	288					0.00829132	0.00834067	1	1	0	T	152321120	G	T	152321120	4	4	22	1	0	0	0	0	0	1	0	0	13409	943	33	2	5200	2	RIF1	2	152321120	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	890	152321120	90878253	2860	5006											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152322075C>T	ENST00000243326.4	+	29	6524	c.6041C>T	c.(6040-6042)aCg>aTg	p.T2014M	RIF1_ENST00000444746.2_Missense_Mutation_p.T2014M|RIF1_ENST00000453091.2_Missense_Mutation_p.T2014M|RIF1_ENST00000428287.2_Missense_Mutation_p.T2014M|RIF1_ENST00000430328.2_Missense_Mutation_p.T2014M			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2014	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													29	160					0	0	1	0	0	T	152322075	C	T	152322075	3	4	22	1	0	0	0	0	1	0	0	0	13409	536	19	1	6155	1	RIF1	2	152322075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	955	152322075	90877298	2861	5007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152322115C>T	ENST00000243326.4	+	29	6564	c.6081C>T	c.(6079-6081)ggC>ggT	p.G2027G	RIF1_ENST00000444746.2_Silent_p.G2027G|RIF1_ENST00000453091.2_Silent_p.G2027G|RIF1_ENST00000428287.2_Silent_p.G2027G|RIF1_ENST00000430328.2_Silent_p.G2027G			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2027	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													9	208					0	0	1	0	0	T	152322115	C	T	152322115	2	4	22	1	0	0	0	0	0	0	0	1	13409	755	27	1		1	RIF1	2	152322115	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40	152322115	90877258	2862	5008											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000603639.1_Missense_Mutation_p.H8411Y|NEB_ENST00000509223.2_Missense_Mutation_p.H324Y|NEB_ENST00000604864.1_Missense_Mutation_p.H8411Y|NEB_ENST00000409198.1_Missense_Mutation_p.H6555Y|RIF1_ENST00000457745.1_Intron|NEB_ENST00000397336.2_Missense_Mutation_p.H386Y|NEB_ENST00000172853.10_Missense_Mutation_p.H6555Y|NEB_ENST00000397345.3_Missense_Mutation_p.H8411Y	NM_001164507.1	NP_001157979.1	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													17	63					0	0	1	0	0	A	152346952	G	A	152346952	3	1	22	1	0	0	0	0	1	0	0	0	10349	1319	46	2	358	2	NEB	2	152346952	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24837	152346952	90852421	2863	5009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152352790C>T	ENST00000427231.2	-	173	24688	c.24486_splice	c.e173+1	p.S8162_splice	NEB_ENST00000603639.1_Splice_Site_p.S8162_splice|NEB_ENST00000509223.2_Splice_Site_p.S106_splice|NEB_ENST00000604864.1_Splice_Site_p.S8162_splice|NEB_ENST00000498015.2_Intron|NEB_ENST00000409198.1_Splice_Site_p.S6306_splice|RIF1_ENST00000457745.1_Intron|NEB_ENST00000397336.2_Splice_Site_p.S137_splice|NEB_ENST00000172853.10_Splice_Site_p.S6306_splice|NEB_ENST00000397345.3_Splice_Site_p.S8162_splice	NM_001164507.1	NP_001157979.1	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													30	95					0	0	1	0	0	T	152352790	C	T	152352790	5	4	22	1	0	0	0	0	0	0	1	0	10349	666	23	1	1131	1	NEB	2	152352790	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5838	152352790	90846583	2864	5010											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000603639.1_Missense_Mutation_p.S7792F|NEB_ENST00000604864.1_Missense_Mutation_p.S7792F|NEB_ENST00000409198.1_Missense_Mutation_p.S6091F|NEB_ENST00000172853.10_Missense_Mutation_p.S6091F|NEB_ENST00000397345.3_Missense_Mutation_p.S7792F	NM_001164507.1	NP_001157979.1	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													17	60					0	0	1	0	0	A	152364595	G	A	152364595	3	1	22	1	0	0	0	0	1	0	0	0	10349	1174	41	2	2286	2	NEB	2	152364595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11805	152364595	90834778	2865	5011											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000603639.1_Missense_Mutation_p.Q7451H|NEB_ENST00000604864.1_Missense_Mutation_p.Q7451H|NEB_ENST00000409198.1_Missense_Mutation_p.Q5750H|NEB_ENST00000172853.10_Missense_Mutation_p.Q5750H|NEB_ENST00000397345.3_Missense_Mutation_p.Q7451H	NM_001164507.1	NP_001157979.1	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													33	1029					2.16457e-27	2.50636e-27	1	1	0	A	152381050	C	A	152381050	3	1	22	1	0	0	0	0	1	0	0	0	10349	680	24	2	3348	2	NEB	2	152381050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16455	152381050	90818323	2866	5012											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000603639.1_Silent_p.T6277T|NEB_ENST00000604864.1_Silent_p.T6277T|NEB_ENST00000409198.1_Silent_p.T4576T|NEB_ENST00000172853.10_Silent_p.T4576T|NEB_ENST00000397345.3_Silent_p.T6277T	NM_001164507.1	NP_001157979.1	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													13	71					0	0	1	0	0	T	152419185	C	T	152419185	2	4	22	1	0	0	0	0	0	0	0	1	10349	523	19	1		1	NEB	2	152419185	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38135	152419185	90780188	2867	5013											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000603639.1_Missense_Mutation_p.S4025N|NEB_ENST00000604864.1_Missense_Mutation_p.S4025N|NEB_ENST00000409198.1_Missense_Mutation_p.S3782N|NEB_ENST00000172853.10_Missense_Mutation_p.S3782N|NEB_ENST00000397345.3_Missense_Mutation_p.S4025N	NM_001164507.1	NP_001157979.1	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													49	212					0	0	1	0	0	T	152466579	C	T	152466579	3	4	22	1	0	0	0	0	1	0	0	0	10349	797	28	2	14020	2	NEB	2	152466579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47394	152466579	90732794	2868	5014											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000603639.1_Silent_p.G3886G|NEB_ENST00000604864.1_Silent_p.G3886G|NEB_ENST00000409198.1_Silent_p.G3643G|NEB_ENST00000172853.10_Silent_p.G3643G|NEB_ENST00000397345.3_Silent_p.G3886G	NM_001164507.1	NP_001157979.1	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													16	221					0	0	1	0	0	A	152468847	G	A	152468847	2	1	22	1	0	0	0	0	0	0	0	1	10349	958	34	2		2	NEB	2	152468847	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2268	152468847	90730526	2869	5015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000603639.1_Missense_Mutation_p.K3784N|NEB_ENST00000604864.1_Missense_Mutation_p.K3784N|NEB_ENST00000409198.1_Missense_Mutation_p.K3541N|NEB_ENST00000172853.10_Missense_Mutation_p.K3541N|NEB_ENST00000397345.3_Missense_Mutation_p.K3784N	NM_001164507.1	NP_001157979.1	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													297	767					6.59406e-113	8.48892e-113	1	1	0	A	152471039	C	A	152471039	3	1	22	1	0	0	0	0	1	0	0	0	10349	680	24	2	14758	2	NEB	2	152471039	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2192	152471039	90728334	2870	5016											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000603639.1_Nonsense_Mutation_p.W2418*|NEB_ENST00000604864.1_Nonsense_Mutation_p.W2418*|NEB_ENST00000409198.1_Nonsense_Mutation_p.W2418*|NEB_ENST00000172853.10_Nonsense_Mutation_p.W2418*|NEB_ENST00000397345.3_Nonsense_Mutation_p.W2418*	NM_001164507.1	NP_001157979.1	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													53	301					0	0	1	0	0	T	152506868	C	T	152506868	4	4	22	1	0	0	0	0	0	1	0	0	10349	595	21	2	18949	2	NEB	2	152506868	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35829	152506868	90692505	2871	5017											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000603639.1_Missense_Mutation_p.R2161H|NEB_ENST00000604864.1_Missense_Mutation_p.R2161H|NEB_ENST00000409198.1_Missense_Mutation_p.R2161H|NEB_ENST00000172853.10_Missense_Mutation_p.R2161H|NEB_ENST00000397345.3_Missense_Mutation_p.R2161H	NM_001164507.1	NP_001157979.1	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													251	1379					0	0	1	0	0	T	152512680	C	T	152512680	3	4	22	1	0	0	0	0	1	0	0	0	10349	768	27	1	19740	1	NEB	2	152512680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5812	152512680	90686693	2872	5018											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000603639.1_Missense_Mutation_p.D1930N|NEB_ENST00000604864.1_Missense_Mutation_p.D1930N|NEB_ENST00000409198.1_Missense_Mutation_p.D1930N|NEB_ENST00000172853.10_Missense_Mutation_p.D1930N|NEB_ENST00000397345.3_Missense_Mutation_p.D1930N	NM_001164507.1	NP_001157979.1	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													15	428					0	0	1	0	0	T	152518831	C	T	152518831	3	4	22	1	0	0	0	0	1	0	0	0	10349	826	29	2	20446	2	NEB	2	152518831	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6151	152518831	90680542	2873	5019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000603639.1_Missense_Mutation_p.K1828N|NEB_ENST00000604864.1_Missense_Mutation_p.K1828N|NEB_ENST00000409198.1_Missense_Mutation_p.K1828N|NEB_ENST00000172853.10_Missense_Mutation_p.K1828N|NEB_ENST00000397345.3_Missense_Mutation_p.K1828N	NM_001164507.1	NP_001157979.1	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													57	258					0	0	1	0	0	G	152520341	T	G	152520341	3	3	22	1	0	0	0	0	1	0	0	0	10349	1606	56	3	20754	3	NEB	2	152520341	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1510	152520341	90679032	2874	5020											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000603639.1_Missense_Mutation_p.N1496S|NEB_ENST00000604864.1_Missense_Mutation_p.N1496S|NEB_ENST00000409198.1_Missense_Mutation_p.N1496S|NEB_ENST00000172853.10_Missense_Mutation_p.N1496S|NEB_ENST00000397345.3_Missense_Mutation_p.N1496S	NM_001164507.1	NP_001157979.1	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													65	182					0	0	1	0	0	C	152527556	T	C	152527556	3	2	22	1	0	0	0	0	1	0	0	0	10349	1725	60	3	21779	3	NEB	2	152527556	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7215	152527556	90671817	2875	5021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000603639.1_Silent_p.V1399V|NEB_ENST00000604864.1_Silent_p.V1399V|NEB_ENST00000409198.1_Silent_p.V1399V|NEB_ENST00000172853.10_Silent_p.V1399V|NEB_ENST00000397345.3_Silent_p.V1399V	NM_001164507.1	NP_001157979.1	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													93	287					0	0	1	0	0	A	152528985	G	A	152528985	2	1	22	1	0	0	0	0	0	0	0	1	10349	1045	37	1		1	NEB	2	152528985	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1429	152528985	90670388	2876	5022											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000603639.1_Missense_Mutation_p.R985C|NEB_ENST00000604864.1_Missense_Mutation_p.R985C|NEB_ENST00000409198.1_Missense_Mutation_p.R985C|NEB_ENST00000172853.10_Missense_Mutation_p.R985C|NEB_ENST00000397345.3_Missense_Mutation_p.R985C	NM_001164507.1	NP_001157979.1	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													167	547					0	0	1	0	0	A	152537333	G	A	152537333	3	1	22	1	0	0	0	0	1	0	0	0	10349	1058	37	1	23345	1	NEB	2	152537333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8348	152537333	90662040	2877	5023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000603639.1_Missense_Mutation_p.H88R|NEB_ENST00000604864.1_Missense_Mutation_p.H88R|NEB_ENST00000409198.1_Missense_Mutation_p.H88R|NEB_ENST00000172853.10_Missense_Mutation_p.H88R|NEB_ENST00000397345.3_Missense_Mutation_p.H88R	NM_001164507.1	NP_001157979.1	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													39	221					0	0	1	0	0	C	152584236	T	C	152584236	3	2	22	1	0	0	0	0	1	0	0	0	10349	1696	59	3	26135	3	NEB	2	152584236	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46903	152584236	90615137	2878	5024											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	324					0	0	1	0	0	G	152992061	T	G	152992061	3	3	22	1	0	0	0	0	1	0	0	0	15305	1493	52	3	844	3	STAM2	2	152992061	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	407825	152992061	90207312	2879	5025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	99					0	0	1	0	0	A	153476145	G	A	153476145	3	1	22	1	0	0	0	0	1	0	0	0	5985	971	34	2	1808	2	FMNL2	2	153476145	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	484084	153476145	89723228	2880	5026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	428					0	0	1	0	0	T	153484903	C	T	153484903	2	4	22	1	0	0	0	0	0	0	0	1	5985	547	19	1		1	FMNL2	2	153484903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8758	153484903	89714470	2881	5027											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	274					0	0	1	0	0	T	154996996	C	T	154996996	2	4	22	1	0	0	0	0	0	0	0	1	6251	912	32	2		2	GALNT13	2	154996996	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1512093	154996996	88202377	2882	5028											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:155102495G>A	ENST00000392825.3	+	7	1424	c.857_splice	c.e7+1	p.R286_splice	GALNT13_ENST00000409237.1_Splice_Site_p.R286_splice	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													45	171					0	0	1	0	0	A	155102495	G	A	155102495	5	1	22	1	0	0	0	0	0	0	1	0	6251	1014	35	2	875	2	GALNT13	2	155102495	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105499	155102495	88096878	2883	5029											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000426264.1_Missense_Mutation_p.N480S|NR4A2_ENST00000409108.2_Silent_p.Q508Q|NR4A2_ENST00000409572.1_Missense_Mutation_p.N543S|NR4A2_ENST00000429376.1_Silent_p.Q445Q	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													101	274					0	0	1	0	0	C	157182425	T	C	157182425	3	2	22	1	0	0	0	0	1	0	0	0	10681	1493	52	3	172	3	NR4A2	2	157182425	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2079930	157182425	86016948	2884	5030											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000426264.1_Missense_Mutation_p.Q258H|NR4A2_ENST00000409108.2_Missense_Mutation_p.Q321H|NR4A2_ENST00000409572.1_Missense_Mutation_p.Q321H|NR4A2_ENST00000429376.1_Missense_Mutation_p.Q258H	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													80	395					4.8811e-34	5.79764e-34	1	1	0	A	157184947	C	A	157184947	3	1	22	1	0	0	0	0	1	0	0	0	10681	912	32	2	853	2	NR4A2	2	157184947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2522	157184947	86014426	2885	5031											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000426264.1_Missense_Mutation_p.D9N|NR4A2_ENST00000409108.2_Missense_Mutation_p.D72N|NR4A2_ENST00000409572.1_Missense_Mutation_p.D72N|NR4A2_ENST00000429376.1_Missense_Mutation_p.D9N	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													14	518					0	0	1	0	0	T	157186485	C	T	157186485	3	4	22	1	0	0	0	0	1	0	0	0	10681	884	31	1	1606	1	NR4A2	2	157186485	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1538	157186485	86012888	2886	5032											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	470					0	0	1	0	0	A	158115418	G	A	158115418	3	1	22	1	0	0	0	0	1	0	0	0	6256	1029	36	2	826	2	GALNT5	2	158115418	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	928933	158115418	85083955	2887	5033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	497					0	0	1	0	0	A	158115529	G	A	158115529	3	1	22	1	0	0	0	0	1	0	0	0	6256	1232	43	2	937	2	GALNT5	2	158115529	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	158115529	85083844	2888	5034											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158399284G>A	ENST00000243349.7	-	6	1394	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V	ACVR1C_ENST00000335450.7_Missense_Mutation_p.A265V|ACVR1C_ENST00000348328.5_Missense_Mutation_p.A188V|ACVR1C_ENST00000409680.3_Missense_Mutation_p.A295V	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	345	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													124	507					0	0	1	0	0	A	158399284	G	A	158399284	3	1	22	1	0	0	0	0	1	0	0	0	221	971	34	2	463	2	ACVR1C	2	158399284	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	283755	158399284	84800089	2889	5035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000460456.1_3'UTR|UPP2_ENST00000005756.4_Missense_Mutation_p.V20A|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													107	535					0	0	1	0	0	C	158958634	T	C	158958634	3	2	22	1	0	0	0	0	1	0	0	0	17073	1725	60	3	240	3	UPP2	2	158958634	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	559350	158958634	84240739	2890	5036											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			117	351					0	0	1	0	0	T	159535158	C	T	159535158	3	4	22	1	0	0	0	0	1	0	0	0	12035	527	19	1	3400	1	PKP4	2	159535158	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	576524	159535158	83664215	2891	5037											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			146	424					0	0	1	0	0	A	159537009	G	A	159537009	2	1	22	1	0	0	0	0	0	0	0	1	12035	1310	46	2		2	PKP4	2	159537009	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1851	159537009	83662364	2892	5038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	314					0	0	1	0	0	A	160019849	G	A	160019849	4	1	22	1	0	0	0	0	0	1	0	0	15601	1183	41	2	760	2	TANC1	2	160019849	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	482840	160019849	83179524	2893	5039											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	228					6.14515e-18	6.80267e-18	1	1	0	A	160020017	C	A	160020017	2	1	22	1	0	0	0	0	0	0	0	1	15601	784	28	2		2	TANC1	2	160020017	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168	160020017	83179356	2894	5040											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													395	1141					0	0	1	0	0	A	160031536	G	A	160031536	3	1	22	1	0	0	0	0	1	0	0	0	15601	1087	38	1	1614	1	TANC1	2	160031536	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11519	160031536	83167837	2895	5041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	230					9.07738e-34	1.07712e-33	1	1	0	A	160043449	C	A	160043449	3	1	22	1	0	0	0	0	1	0	0	0	15601	913	32	2	2710	2	TANC1	2	160043449	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11913	160043449	83155924	2896	5042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													191	750					0	0	1	0	0	G	160074011	T	G	160074011	3	3	22	1	0	0	0	0	1	0	0	0	15601	1580	55	3	3318	3	TANC1	2	160074011	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30562	160074011	83125362	2897	5043											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	341					0	0	1	0	0	T	160084456	C	T	160084456	4	4	22	1	0	0	0	0	0	1	0	0	15601	760	27	1	4120	1	TANC1	2	160084456	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10445	160084456	83114917	2898	5044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													183	480					0	0	1	0	0	T	160086401	C	T	160086401	2	4	22	1	0	0	0	0	0	0	0	1	15601	845	30	2		2	TANC1	2	160086401	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1945	160086401	83112972	2899	5045											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358147.4_Nonsense_Mutation_p.W240*|WDSUB1_ENST00000359774.4_Nonsense_Mutation_p.W332*|WDSUB1_ENST00000409124.1_Nonsense_Mutation_p.W332*	NM_001128213.1	NP_001121685.1	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													68	228					0	0	1	0	0	T	160112844	C	T	160112844	4	4	22	1	0	0	0	0	0	1	0	0	17401	595	21	2	447	2	WDSUB1	2	160112844	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26443	160112844	83086529	2900	5046											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1073V|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1007V|AC008277.1_ENST00000420020.1_RNA|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													136	412					0	0	1	0	0	C	160243016	A	C	160243016	3	2	22	1	0	0	0	0	1	0	0	0	1330	11	1	3	3251	3	BAZ2B	2	160243016	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	130172	160243016	82956357	2901	5047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355831.2_Missense_Mutation_p.D650Y|BAZ2B_ENST00000343439.5_Intron|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													83	239					1.91593e-42	2.3328e-42	1	1	0	A	160287620	C	A	160287620	3	1	22	1	0	0	0	0	1	0	0	0	1330	913	32	2	4670	2	BAZ2B	2	160287620	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44604	160287620	82911753	2902	5048											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355831.2_Missense_Mutation_p.V575I|BAZ2B_ENST00000343439.5_Missense_Mutation_p.V573I|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													182	520					0	0	1	0	0	T	160289445	C	T	160289445	3	4	22	1	0	0	0	0	1	0	0	0	1330	565	20	2	4899	2	BAZ2B	2	160289445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1825	160289445	82909928	2903	5049											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355831.2_Missense_Mutation_p.D266Y|BAZ2B_ENST00000343439.5_Missense_Mutation_p.D264Y|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													120	602					3.0332e-58	3.802e-58	1	1	0	A	160295624	C	A	160295624	3	1	22	1	0	0	0	0	1	0	0	0	1330	913	32	2	5834	2	BAZ2B	2	160295624	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6179	160295624	82903749	2904	5050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355831.2_Missense_Mutation_p.R162Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R160Q|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													13	345					0	0	1	0	0	T	160304770	C	T	160304770	3	4	22	1	0	0	0	0	1	0	0	0	1330	884	31	1	6153	1	BAZ2B	2	160304770	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9146	160304770	82894603	2905	5051											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553424.1_Missense_Mutation_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	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													81	324					0	0	1	0	0	T	160676380	C	T	160676380	3	4	22	1	0	0	0	0	1	0	0	0	9145	913	32	2	1186	2	LY75	2	160676380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	371610	160676380	82522993	2906	5052											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553424.1_Missense_Mutation_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	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													132	427					0	0	1	0	0	A	160741799	G	A	160741799	3	1	22	1	0	0	0	0	1	0	0	0	9145	1203	42	2	4369	2	LY75	2	160741799	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65419	160741799	82457574	2907	5053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	273					0	0	1	0	0	T	160825793	C	T	160825793	3	4	22	1	0	0	0	0	1	0	0	0	12058	913	32	2	1709	2	PLA2R1	2	160825793	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83994	160825793	82373580	2908	5054											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000485635.1_5'UTR|ITGB6_ENST00000409967.2_Missense_Mutation_p.S297I|ITGB6_ENST00000428609.2_Missense_Mutation_p.S255I			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													18	658					1.33834e-09	1.40959e-09	1	1	0	A	161029111	C	A	161029111	3	1	22	1	0	0	0	0	1	0	0	0	7943	797	28	2	1516	2	ITGB6	2	161029111	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	203318	161029111	82170262	2909	5055											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Missense_Mutation_p.T73A|RBMS1_ENST00000409289.2_Missense_Mutation_p.T40A|RBMS1_ENST00000409075.1_Missense_Mutation_p.T40A|RBMS1_ENST00000409972.1_Missense_Mutation_p.T40A	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													127	370					0	0	1	0	0	C	161223761	T	C	161223761	3	2	22	1	0	0	0	0	1	0	0	0	13200	1696	59	3	1051	3	RBMS1	2	161223761	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	194650	161223761	81975612	2910	5056											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	307					0	0	1	0	0	T	162273024	C	T	162273024	3	4	22	1	0	0	0	0	1	0	0	0	15707	710	25	2	105	2	TBR1	2	162273024	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1049263	162273024	80926349	2911	5057											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	958					0	0	1	0	0	T	162273383	C	T	162273383	2	4	22	1	0	0	0	0	0	0	0	1	15707	535	19	1		1	TBR1	2	162273383	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	359	162273383	80925990	2912	5058											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000272716.5_Missense_Mutation_p.V845L|SLC4A10_ENST00000421911.1_Missense_Mutation_p.V875L|SLC4A10_ENST00000446997.1_Missense_Mutation_p.V875L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.V845L	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													8	129					0	0	1	0	0	C	162813580	G	C	162813580	3	2	22	1	0	0	0	0	1	0	0	0	14706	1377	48	5	2786	5	SLC4A10	2	162813580	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	540197	162813580	80385793	2913	5059											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000272716.5_Missense_Mutation_p.I1054M|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000446997.1_Missense_Mutation_p.I1084M|SLC4A10_ENST00000415876.2_Missense_Mutation_p.I1054M	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													14	42					0	0	1	0	0	G	162833294	A	G	162833294	3	3	22	1	0	0	0	0	1	0	0	0	14706	439	16	3	3435	3	SLC4A10	2	162833294	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19714	162833294	80366079	2914	5060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000272716.5_Missense_Mutation_p.A1071V|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000446997.1_Missense_Mutation_p.A1101V|SLC4A10_ENST00000415876.2_Missense_Mutation_p.A1071V	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													5	55					0	0	1	0	0	T	162833344	C	T	162833344	3	4	22	1	0	0	0	0	1	0	0	0	14706	739	26	2	3485	2	SLC4A10	2	162833344	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50	162833344	80366029	2915	5061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162834231G>A	ENST00000375514.5	+	26	3574		c.e26-1		SLC4A10_ENST00000272716.5_Intron|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000446997.1_Splice_Site|SLC4A10_ENST00000415876.2_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													66	383					0	0	1	0	0	A	162834231	G	A	162834231	5	1	22	1	0	0	0	0	0	0	1	0	14706	985	34	2	3531	2	SLC4A10	2	162834231	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	887	162834231	80365142	2916	5062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	131					0	0	1	0	0	G	162862277	T	G	162862277	3	3	22	1	0	0	0	0	1	0	0	0	4755	1783	62	3	286	3	DPP4	2	162862277	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28046	162862277	80337096	2917	5063											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	253					0	0	1	0	0	T	162865071	C	T	162865071	5	4	22	1	0	0	0	0	0	0	1	0	4755	521	18	2	332	2	DPP4	2	162865071	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2794	162865071	80334302	2918	5064											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													289	800					0	0	1	0	0	T	163003925	C	T	163003925	2	4	22	1	0	0	0	0	0	0	0	1	6330	564	20	2		2	GCG	2	163003925	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138854	163003925	80195448	2919	5065											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	174					0	0	1	0	0	A	163082066	G	A	163082066	3	1	22	1	0	0	0	0	1	0	0	0	5706	942	33	2	2162	2	FAP	2	163082066	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78141	163082066	80117307	2920	5066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	249					0	0	1	0	0	C	163124694	T	C	163124694	3	2	22	1	0	0	0	0	1	0	0	0	7564	1725	60	3	379	3	IFIH1	2	163124694	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42628	163124694	80074679	2921	5067											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	391					0	0	1	0	0	A	163130398	G	A	163130398	2	1	22	1	0	0	0	0	0	0	0	1	7564	1048	37	1		1	IFIH1	2	163130398	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5704	163130398	80068975	2922	5068											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	259					0	0	1	0	0	T	163134176	C	T	163134176	3	4	22	1	0	0	0	0	1	0	0	0	7564	536	19	1	1312	1	IFIH1	2	163134176	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3778	163134176	80065197	2923	5069											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	237					0	0	1	0	0	A	163174679	G	A	163174679	4	1	22	1	0	0	0	0	0	1	0	0	7564	1299	45	2	3002	2	IFIH1	2	163174679	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40503	163174679	80024694	2924	5070											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	485					7.28744e-38	8.7633e-38	1	1	0	T	163256740	G	T	163256740	3	4	22	1	0	0	0	0	1	0	0	0	8081	1174	41	2	1252	2	KCNH7	2	163256740	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82061	163256740	79942633	2925	5071											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													258	713					0	0	1	0	0	A	163279902	G	A	163279902	3	1	22	1	0	0	0	0	1	0	0	0	8081	942	33	2	1590	2	KCNH7	2	163279902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23162	163279902	79919471	2926	5072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													129	375					0	0	1	0	0	T	163374395	C	T	163374395	3	4	22	1	0	0	0	0	1	0	0	0	8081	884	31	1	2971	1	KCNH7	2	163374395	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94493	163374395	79824978	2927	5073											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	199					0	0	1	0	0	T	163693155	C	T	163693155	3	4	22	1	0	0	0	0	1	0	0	0	8081	884	31	1	3517	1	KCNH7	2	163693155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	318760	163693155	79506218	2928	5074											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	303					0	0	1	0	0	A	164466940	G	A	164466940	3	1	22	1	0	0	0	0	1	0	0	0	5924	1000	35	2	881	2	FIGN	2	164466940	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	773785	164466940	78732433	2929	5075											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													132	583					0	0	1	0	0	A	164468186	G	A	164468186	2	1	22	1	0	0	0	0	0	0	0	1	5924	1140	40	1		1	FIGN	2	164468186	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1246	164468186	78731187	2930	5076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	296					0	0	1	0	0	G	165353553	A	G	165353553	2	3	22	1	0	0	0	0	0	0	0	1	6798	291	11	3		3	GRB14	2	165353553	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	885367	165353553	77845820	2931	5077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	258					0	0	1	0	0	G	165404219	A	G	165404219	2	3	22	1	0	0	0	0	0	0	0	1	6798	126	5	3		3	GRB14	2	165404219	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	50666	165404219	77795154	2932	5078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392717.2_Missense_Mutation_p.D908N|COBLL1_ENST00000194871.6_Missense_Mutation_p.D937N|COBLL1_ENST00000342193.4_Missense_Mutation_p.D870N|COBLL1_ENST00000409184.3_Missense_Mutation_p.D870N	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													84	476					0	0	1	0	0	T	165551408	C	T	165551408	3	4	22	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	2933	5079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000283254.7_Silent_p.G271G|SCN3A_ENST00000409101.3_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													120	337					0	0	1	0	0	A	166019220	G	A	166019220	2	1	22	1	0	0	0	0	0	0	0	1	13972	1306	46	2		2	SCN3A	2	166019220	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	467812	166019220	77180153	2934	5080											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166231251T>G	ENST00000357398.3	+	22	4319	c.4029T>G	c.(4027-4029)gtT>gtG	p.V1343V	SCN2A_ENST00000375427.2_Silent_p.V1343V|SCN2A_ENST00000283256.6_Silent_p.V1343V|SCN2A_ENST00000375437.2_Silent_p.V1343V			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													17	598					0	0	1	0	0	G	166231251	T	G	166231251	2	3	22	1	0	0	0	0	0	0	0	1	13970	1828	64	3		3	SCN2A	2	166231251	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	212031	166231251	76968122	2935	5081											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166231448G>T	ENST00000357398.3	+	22	4516	c.4226G>T	c.(4225-4227)gGa>gTa	p.G1409V	SCN2A_ENST00000375427.2_Missense_Mutation_p.G1409V|SCN2A_ENST00000283256.6_Missense_Mutation_p.G1409V|SCN2A_ENST00000375437.2_Missense_Mutation_p.G1409V			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													48	192					1.06522e-23	1.21267e-23	1	1	0	T	166231448	G	T	166231448	3	4	22	1	0	0	0	0	1	0	0	0	13970	1174	41	2	4404	2	SCN2A	2	166231448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	197	166231448	76967925	2936	5082											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166243340G>A	ENST00000357398.3	+	26	4926	c.4636G>A	c.(4636-4638)Gtc>Atc	p.V1546I	SCN2A_ENST00000375427.2_Missense_Mutation_p.V1546I|SCN2A_ENST00000283256.6_Missense_Mutation_p.V1546I|SCN2A_ENST00000375437.2_Missense_Mutation_p.V1546I			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													83	219					0	0	1	0	0	A	166243340	G	A	166243340	3	1	22	1	0	0	0	0	1	0	0	0	13970	1261	44	2	4830	2	SCN2A	2	166243340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11892	166243340	76956033	2937	5083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000342316.4_Missense_Mutation_p.L288M|CSRNP3_ENST00000409420.1_Missense_Mutation_p.L320M	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													112	255					4.70087e-54	5.86491e-54	1	1	0	A	166535367	C	A	166535367	3	1	22	1	0	0	0	0	1	0	0	0	3990	796	28	2	876	2	CSRNP3	2	166535367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	292027	166535367	76664006	2938	5084											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	302					5.72124e-26	6.58255e-26	1	1	0	A	166740357	C	A	166740357	3	1	22	1	0	0	0	0	1	0	0	0	16750	797	28	2	335	2	TTC21B	2	166740357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	204990	166740357	76459016	2939	5085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	162					2.77807e-22	3.14147e-22	1	1	0	T	166785764	G	T	166785764	3	4	22	1	0	0	0	0	1	0	0	0	16750	991	35	2	2759	2	TTC21B	2	166785764	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45407	166785764	76413609	2940	5086											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	683					0	0	1	0	0	G	166805950	A	G	166805950	2	3	22	1	0	0	0	0	0	0	0	1	16750	41	2	3		3	TTC21B	2	166805950	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20186	166805950	76393423	2941	5087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409050.1_Missense_Mutation_p.A1867T|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.A1884T|SCN1A_ENST00000303395.4_Missense_Mutation_p.A1895T	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													10	577					0	0	1	0	0	T	166848102	C	T	166848102	3	4	22	1	0	0	0	0	1	0	0	0	13968	739	26	2	350	2	SCN1A	2	166848102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42152	166848102	76351271	2942	5088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409050.1_Silent_p.S1603S|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.S1620S|SCN1A_ENST00000303395.4_Silent_p.S1631S	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													76	443					9.59377e-39	1.15749e-38	1	1	0	T	166848892	G	T	166848892	2	4	22	1	0	0	0	0	0	0	0	1	13968	1219	43	2		2	SCN1A	2	166848892	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	790	166848892	76350481	2943	5089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409050.1_Missense_Mutation_p.I1372T|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.I1389T|SCN1A_ENST00000303395.4_Missense_Mutation_p.I1400T	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													94	268					0	0	1	0	0	G	166859067	A	G	166859067	3	3	22	1	0	0	0	0	1	0	0	0	13968	449	16	3	1854	3	SCN1A	2	166859067	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10175	166859067	76340306	2944	5090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409050.1_Silent_p.S603S|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.S603S|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_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													83	369					0	0	1	0	0	A	166900413	G	A	166900413	2	1	22	1	0	0	0	0	0	0	0	1	13968	1194	42	2		2	SCN1A	2	166900413	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41346	166900413	76298960	2945	5091											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409050.1_Nonsense_Mutation_p.E293*|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.E293*|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_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													32	196					2.81731e-10	2.98404e-10	1	1	0	A	166908316	C	A	166908316	4	1	22	1	0	0	0	0	0	1	0	0	13968	922	32	2	5236	2	SCN1A	2	166908316	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7903	166908316	76291057	2946	5092											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167085266G>A	ENST00000375387.4	-	22	4484	c.4144C>T	c.(4144-4146)Cga>Tga	p.R1382*	SCN9A_ENST00000409672.1_Nonsense_Mutation_p.R1370*|SCN9A_ENST00000409435.1_Nonsense_Mutation_p.R1381*|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_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													166	749					0	0	1	0	0	A	167085266	G	A	167085266	4	1	22	1	0	0	0	0	0	1	0	0	13979	1095	38	1	1849	1	SCN9A	2	167085266	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	176950	167085266	76114107	2947	5093											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167138288G>A	ENST00000375387.4	-	13	2348	c.2008C>T	c.(2008-2010)Cgt>Tgt	p.R670C	SCN9A_ENST00000409672.1_Missense_Mutation_p.R658C|SCN9A_ENST00000409435.1_Missense_Mutation_p.R669C|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_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													28	375					0	0	1	0	0	A	167138288	G	A	167138288	3	1	22	1	0	0	0	0	1	0	0	0	13979	1087	38	1	4021	1	SCN9A	2	167138288	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53022	167138288	76061085	2948	5094											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167145116A>G	ENST00000375387.4	-	10	1488	c.1148T>C	c.(1147-1149)tTt>tCt	p.F383S	SCN9A_ENST00000409672.1_Missense_Mutation_p.F382S|SCN9A_ENST00000409435.1_Missense_Mutation_p.F382S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_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													7	257					0	0	1	0	0	G	167145116	A	G	167145116	3	3	22	1	0	0	0	0	1	0	0	0	13979	14	1	3	4860	3	SCN9A	2	167145116	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6828	167145116	76054257	2949	5095											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167163471T>C	ENST00000375387.4	-	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_ENST00000303354.6_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													29	66					0	0	1	0	0	C	167163471	T	C	167163471	2	2	22	1	0	0	0	0	0	0	0	1	13979	1625	57	3		3	SCN9A	2	167163471	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18355	167163471	76035902	2950	5096											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	741					0	0	1	0	0	A	167262289	G	A	167262289	3	1	22	1	0	0	0	0	1	0	0	0	13977	1145	40	1	202	1	SCN7A	2	167262289	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98818	167262289	75937084	2951	5097											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													130	726					0	0	1	0	0	C	167262858	A	C	167262858	2	2	22	1	0	0	0	0	0	0	0	1	13977	1	1	3		3	SCN7A	2	167262858	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	569	167262858	75936515	2952	5098											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	452					0	0	1	0	0	T	167288898	C	T	167288898	3	4	22	1	0	0	0	0	1	0	0	0	13977	855	30	2	2570	2	SCN7A	2	167288898	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26040	167288898	75910475	2953	5099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	68					0	0	1	0	0	T	167328870	C	T	167328870	3	4	22	1	0	0	0	0	1	0	0	0	13977	652	23	1	4603	1	SCN7A	2	167328870	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39972	167328870	75870503	2954	5100											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000295237.9_Missense_Mutation_p.R105C|XIRP2_ENST00000420519.1_Missense_Mutation_p.R105C|XIRP2_ENST00000409728.1_Missense_Mutation_p.R105C|XIRP2_ENST00000409756.2_Missense_Mutation_p.R105C|XIRP2_ENST00000409043.1_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													64	307					0	0	1	0	0	T	167760305	C	T	167760305	3	4	22	1	0	0	0	0	1	0	0	0	17490	768	27	1	315	1	XIRP2	2	167760305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	431435	167760305	75439068	2955	5101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E953A|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E731A	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													40	252					0	0	1	0	0	C	168100760	A	C	168100760	3	2	22	1	0	0	0	0	1	0	0	0	17490	246	9	3	2888	3	XIRP2	2	168100760	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	340455	168100760	75098613	2956	5102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1378Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1156Y	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													61	323					1.82294e-38	2.19748e-38	1	1	0	T	168102034	G	T	168102034	3	4	22	1	0	0	0	0	1	0	0	0	17490	942	33	2	4162	2	XIRP2	2	168102034	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1274	168102034	75097339	2957	5103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K1553T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K1331T	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													94	301					0	0	1	0	0	C	168102560	A	C	168102560	3	2	22	1	0	0	0	0	1	0	0	0	17490	14	1	3	4688	3	XIRP2	2	168102560	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	526	168102560	75096813	2958	5104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L1758M|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1536M	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													94	266					4.7146e-34	5.60093e-34	1	1	0	A	168103174	C	A	168103174	3	1	22	1	0	0	0	0	1	0	0	0	17490	912	32	2	5302	2	XIRP2	2	168103174	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	614	168103174	75096199	2959	5105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2031Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1809Y	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													72	249					9.25274e-37	1.1089e-36	1	1	0	T	168103993	G	T	168103993	3	4	22	1	0	0	0	0	1	0	0	0	17490	942	33	2	6121	2	XIRP2	2	168103993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	819	168103993	75095380	2960	5106											
XIRP2	129446	broad.mit.edu	37	chr2	168106134	168106135	+	Frame_Shift_Ins	INS	-	-	A													ttgatgttcaaacctttaccINSaaaaaacaatatctgaaaac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168106134_168106135insA	ENST00000409195.1	+	9	8321_8322	c.8232_8233insA	c.(8230-8235)acaaaafs	p.TK2744fs	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TK2744fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TK2522fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2569					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						AAACCTTTACCAAAAAACAATA	0.347													91	274	---	---	---	---						A	168106135	-	A	168106134	7	5	22	1	0	1	1	0	0	0	0	0	17490	581	21	0	8262	0	XIRP2	2	168106134	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	2141	168106134	75093239	2961	5107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V3284V|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V3062V	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													175	468					0	0	1	0	0	A	168107754	G	A	168107754	2	1	22	1	0	0	0	0	0	0	0	1	17490	1306	46	2		2	XIRP2	2	168107754	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1620	168107754	75091619	2962	5108											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.G3448G|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.G3226G	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													71	236					0	0	1	0	0	T	168108246	C	T	168108246	2	4	22	1	0	0	0	0	0	0	0	1	17490	784	28	2		2	XIRP2	2	168108246	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	492	168108246	75091127	2963	5109											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K3452T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K3230T	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													65	251					0	0	1	0	0	C	168108257	A	C	168108257	3	2	22	1	0	0	0	0	1	0	0	0	17490	72	3	3	10385	3	XIRP2	2	168108257	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11	168108257	75091116	2964	5110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	313					0	0	1	0	0	C	169730185	A	C	169730185	3	2	22	1	0	0	0	0	1	0	0	0	15078	98	4	3	222	3	SPC25	2	169730185	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1621928	169730185	73469188	2965	5111											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													129	446					0	0	1	0	0	A	169757900	G	A	169757900	3	1	22	1	0	0	0	0	1	0	0	0	6179	1058	37	1	61	1	G6PC2	2	169757900	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27715	169757900	73441473	2966	5112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	299					0	0	1	0	0	G	169792891	A	G	169792891	3	3	22	1	0	0	0	0	1	0	0	0	42	159	6	3	1330	3	ABCB11	2	169792891	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34991	169792891	73406482	2967	5113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													270	861					0	0	1	0	0	G	169869852	A	G	169869852	3	3	22	1	0	0	0	0	1	0	0	0	42	217	8	3	3742	3	ABCB11	2	169869852	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	76961	169869852	73329521	2968	5114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													141	368					0	0	1	0	0	A	170027155	G	A	170027155	2	1	22	1	0	0	0	0	0	0	0	1	9001	1078	38	1		1	LRP2	2	170027155	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157303	170027155	73172218	2969	5115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	211					0	0	1	0	0	T	170038097	C	T	170038097	3	4	22	1	0	0	0	0	1	0	0	0	9001	768	27	1	4049	1	LRP2	2	170038097	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10942	170038097	73161276	2970	5116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	303					0	0	1	0	0	T	170058137	C	T	170058137	5	4	22	1	0	0	0	0	0	0	1	0	9001	550	19	1	5658	1	LRP2	2	170058137	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20040	170058137	73141236	2971	5117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	BBS5_ENST00000554017.1_Missense_Mutation_p.A130V|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.A130V|BBS5_ENST00000392663.2_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				24	114					0	0	1	0	0	T	170349386	C	T	170349386	3	4	22	1	0	0	0	0	1	0	0	0	1338	797	28	2	411	2	BBS5	2	170349386	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	291249	170349386	72849987	2972	5118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	BBS5_ENST00000554017.1_Silent_p.G294G|RP11-724O16.1_ENST00000513963.1_Silent_p.G294G|BBS5_ENST00000392663.2_Silent_p.G273G	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				14	136					0	0	1	0	0	G	170359670	T	G	170359670	2	3	22	1	0	0	0	0	0	0	0	1	1338	1654	58	3		3	BBS5	2	170359670	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10284	170359670	72839703	2973	5119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	269					0	0	1	0	0	G	170428255	A	G	170428255	2	3	22	1	0	0	0	0	0	0	0	1	5718	330	12	3		3	FASTKD1	2	170428255	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	68585	170428255	72771118	2974	5120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409714.3_Missense_Mutation_p.K635R|PPIG_ENST00000448752.2_Missense_Mutation_p.K650R	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													37	166					0	0	1	0	0	G	170493717	A	G	170493717	3	3	22	1	0	0	0	0	1	0	0	0	12373	72	3	3	1995	3	PPIG	2	170493717	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65462	170493717	72705656	2975	5121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409714.3_Silent_p.Y650Y|PPIG_ENST00000448752.2_Silent_p.Y665Y	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													77	192					0	0	1	0	0	T	170493763	C	T	170493763	2	4	22	1	0	0	0	0	0	0	0	1	12373	576	20	2		2	PPIG	2	170493763	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46	170493763	72705610	2976	5122											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409714.3_Missense_Mutation_p.L686S|PPIG_ENST00000448752.2_Missense_Mutation_p.L701S	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													34	181					0	0	1	0	0	C	170493870	T	C	170493870	3	2	22	1	0	0	0	0	1	0	0	0	12373	1764	61	3	2148	3	PPIG	2	170493870	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	107	170493870	72705503	2977	5123											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000602521.1_Silent_p.S56S|KLHL23_ENST00000272797.4_Silent_p.S549S	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													56	820					0	0	1	0	0	A	170606212	T	A	170606212	2	1	22	1	0	0	0	0	0	0	0	1	8421	1538	54	5		5	KLHL23	2	170606212	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	112342	170606212	72593161	2978	5124											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170815035T>G	ENST00000272793.5	+	24	3683	c.3634_splice	c.e24+1	p.V1211_splice	UBR3_ENST00000418381.1_Splice_Site_p.V1211_splice			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													64	361					0	0	1	0	0	G	170815035	T	G	170815035	5	3	22	1	0	0	0	0	0	0	1	0	16964	1826	63	3	3727	3	UBR3	2	170815035	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	208823	170815035	72384338	2979	5125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000418381.1_Silent_p.L1615L|UBR3_ENST00000392631.1_Silent_p.L436L			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													49	355					0	0	1	0	0	T	170917646	C	T	170917646	2	4	22	1	0	0	0	0	0	0	0	1	16964	564	20	2		2	UBR3	2	170917646	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102611	170917646	72281727	2980	5126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	305					0	0	1	0	0	A	171070913	G	A	171070913	3	1	22	1	0	0	0	0	1	0	0	0	10125	1291	45	2	360	2	MYO3B	2	171070913	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153267	171070913	72128460	2981	5127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.K276N|MYO3B_ENST00000408978.4_Missense_Mutation_p.K276N			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													91	267					7.90906e-34	9.3893e-34	1	1	0	T	171225744	G	T	171225744	3	4	22	1	0	0	0	0	1	0	0	0	10125	991	35	2	862	2	MYO3B	2	171225744	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154831	171225744	71973629	2982	5128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.R510I|MYO3B_ENST00000408978.4_Missense_Mutation_p.R510I			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													88	437					5.78178e-49	7.14446e-49	1	1	0	T	171243770	G	T	171243770	3	4	22	1	0	0	0	0	1	0	0	0	10125	942	33	2	1583	2	MYO3B	2	171243770	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18026	171243770	71955603	2983	5129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.Y538H|MYO3B_ENST00000408978.4_Missense_Mutation_p.Y538H			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													7	248					0	0	1	0	0	C	171248064	T	C	171248064	3	2	22	1	0	0	0	0	1	0	0	0	10125	1754	61	3	1670	3	MYO3B	2	171248064	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4294	171248064	71951309	2984	5130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Missense_Mutation_p.L24M|GAD1_ENST00000375272.1_Missense_Mutation_p.L24M	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													136	429					2.13359e-52	2.6535e-52	1	1	0	A	171675171	C	A	171675171	3	1	22	1	0	0	0	0	1	0	0	0	6214	680	24	2	72	2	GAD1	2	171675171	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	427107	171675171	71524202	2985	5131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171678658C>T	ENST00000358196.3	+	3	694	c.145_splice	c.e3+1	p.C48_splice	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Splice_Site_p.C48_splice|GAD1_ENST00000375272.1_Splice_Site_p.C48_splice	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													16	97					0	0	1	0	0	T	171678658	C	T	171678658	5	4	22	1	0	0	0	0	0	0	1	0	6214	782	27	1	150	1	GAD1	2	171678658	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3487	171678658	71520715	2986	5132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Nonsense_Mutation_p.Q71*|GAD1_ENST00000375272.1_Nonsense_Mutation_p.Q71*	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													169	527					0	0	1	0	0	T	171686050	C	T	171686050	4	4	22	1	0	0	0	0	0	1	0	0	6214	711	25	2	221	2	GAD1	2	171686050	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7392	171686050	71513323	2987	5133											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	436					0	0	1	0	0	C	171702066	T	C	171702066	3	2	22	1	0	0	0	0	1	0	0	0	6214	1609	56	3	869	3	GAD1	2	171702066	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16016	171702066	71497307	2988	5134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	400					0.335167	0.335247	1	1	0	A	171702238	C	A	171702238	3	1	22	1	0	0	0	0	1	0	0	0	6214	797	28	2	961	2	GAD1	2	171702238	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172	171702238	71497135	2989	5135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	224					0	0	1	0	0	G	171804913	T	G	171804913	3	3	22	1	0	0	0	0	1	0	0	0	6615	1751	61	3	123	3	GORASP2	2	171804913	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	102675	171804913	71394460	2990	5136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375252.3_Missense_Mutation_p.E155K|CYBRD1_ENST00000409484.1_Nonsense_Mutation_p.W166*	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													65	183					0	0	1	0	0	A	172411148	G	A	172411148	4	1	22	1	0	0	0	0	0	1	0	0	4157	1184	41	2	686	2	CYBRD1	2	172411148	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	606235	172411148	70788225	2991	5137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	264					0	0	1	0	0	A	172648089	G	A	172648089	3	1	22	1	0	0	0	0	1	0	0	0	14529	1087	38	1	595	1	SLC25A12	2	172648089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	236941	172648089	70551284	2992	5138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409532.1_3'UTR|ITGA6_ENST00000264107.7_3'UTR|AC093818.1_ENST00000450443.1_RNA|ITGA6_ENST00000343713.4_3'UTR|ITGA6_ENST00000409080.1_Silent_p.Y1047Y|ITGA6_ENST00000375221.2_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													16	48					0	0	1	0	0	T	173368845	C	T	173368845	2	4	22	1	0	0	0	0	0	0	0	1	7924	547	19	1		1	ITGA6	2	173368845	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	720756	173368845	69830528	2993	5139											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173457694G>A	ENST00000410055.1	+	10	1188	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	PDK1_ENST00000282077.2_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	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	363	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				123	347					0	0	1	0	0	A	173457694	G	A	173457694	3	1	22	1	0	0	0	0	1	0	0	0	11722	1145	40	1	1126	1	PDK1	2	173457694	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88849	173457694	69741679	2994	5140											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173830410C>T	ENST00000264111.6	+	9	1003	c.817_splice	c.e9+1	p.H272_splice	RAPGEF4_ENST00000538974.1_Splice_Site_p.H102_splice|RAPGEF4_ENST00000535187.1_Splice_Site_p.H53_splice|RAPGEF4_ENST00000539331.1_Splice_Site_p.H120_splice|RAPGEF4_ENST00000540783.1_Splice_Site_p.H120_splice|RAPGEF4_ENST00000397087.3_Splice_Site_p.H129_splice|RAPGEF4_ENST00000409036.1_Splice_Site_p.H273_splice|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000397081.3_Splice_Site_p.H273_splice			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													14	428					0	0	1	0	0	T	173830410	C	T	173830410	5	4	22	1	0	0	0	0	0	0	1	0	13098	550	19	1	869	1	RAPGEF4	2	173830410	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	372716	173830410	69368963	2995	5141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538974.1_Missense_Mutation_p.I183S|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.I134S|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.I201S|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.I201S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.I210S|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.I354S|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.I354S			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													96	478					0	0	1	0	0	G	173848280	T	G	173848280	3	3	22	1	0	0	0	0	1	0	0	0	13098	1493	52	3	1119	3	RAPGEF4	2	173848280	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17870	173848280	69351093	2996	5142											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538974.1_Missense_Mutation_p.W614R|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.W565R|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.W632R|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.W632R|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.W641R|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													88	380					0	0	1	0	0	C	173891399	T	C	173891399	3	2	22	1	0	0	0	0	1	0	0	0	13098	1812	63	3	2463	3	RAPGEF4	2	173891399	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43119	173891399	69307974	2997	5143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538974.1_Silent_p.A805A|RAPGEF4_ENST00000535187.1_Silent_p.A756A|RAPGEF4_ENST00000539331.1_Silent_p.A823A|RAPGEF4_ENST00000540783.1_Silent_p.A823A|RAPGEF4_ENST00000397087.3_Silent_p.A832A|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													49	222					0	0	1	0	0	C	173916387	T	C	173916387	2	2	22	1	0	0	0	0	0	0	0	1	13098	1509	53	3		3	RAPGEF4	2	173916387	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24988	173916387	69282986	2998	5144											
CIR1	9541	broad.mit.edu	37	chr2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T													ctttcttttcttcctttgtaINStttttttttctttattgtta							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)acafs	p.T289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	Lys/Ser-rich.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						cttcctttgtatttttttttct	0.381													8	405	---	---	---	---						T	175213713	-	T	175213712	7	5	22	1	0	1	1	0	0	0	0	0	3454	449	16	0	490	0	CIR1	2	175213712	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	1297325	175213712	67985661	2999	5145											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													160	770					0	0	1	0	0	T	175300962	C	T	175300962	3	4	22	1	0	0	0	0	1	0	0	0	6700	913	32	2	121	2	GPR155	2	175300962	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87250	175300962	67898411	3000	5146											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	WIPF1_ENST00000359761.3_Missense_Mutation_p.F104S|WIPF1_ENST00000409891.1_Missense_Mutation_p.F104S|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.F104S|AC018890.6_ENST00000442996.1_RNA|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.F104S|WIPF1_ENST00000392546.2_Missense_Mutation_p.F104S|WIPF1_ENST00000410117.1_Missense_Mutation_p.F104S	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													298	743					0	0	1	0	0	G	175439979	A	G	175439979	3	3	22	1	0	0	0	0	1	0	0	0	17427	246	9	3	1220	3	WIPF1	2	175439979	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	139017	175439979	67759394	3001	5147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	WIPF1_ENST00000359761.3_Missense_Mutation_p.A67V|WIPF1_ENST00000409891.1_Missense_Mutation_p.A67V|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.A67V|AC018890.6_ENST00000442996.1_RNA|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.A67V|WIPF1_ENST00000392546.2_Missense_Mutation_p.A67V|WIPF1_ENST00000410117.1_Missense_Mutation_p.A67V	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													22	1065					0	0	1	0	0	A	175440090	G	A	175440090	3	1	22	1	0	0	0	0	1	0	0	0	17427	971	34	2	1331	2	WIPF1	2	175440090	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	175440090	67759283	3002	5148											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CHRNA1_ENST00000261007.5_Missense_Mutation_p.R346H|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.R239H|CHRNA1_ENST00000409219.1_Missense_Mutation_p.R321H	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													49	307					0	0	1	0	0	T	175614714	C	T	175614714	3	4	22	1	0	0	0	0	1	0	0	0	3403	768	27	1	423	1	CHRNA1	2	175614714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174624	175614714	67584659	3003	5149											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CHRNA1_ENST00000261007.5_Missense_Mutation_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	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													81	441					0	0	1	0	0	T	175624353	C	T	175624353	3	4	22	1	0	0	0	0	1	0	0	0	3403	536	19	1	1432	1	CHRNA1	2	175624353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9639	175624353	67575020	3004	5150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	373					2.42023e-17	2.67004e-17	1	1	0	T	176043125	G	T	176043125	3	4	22	1	0	0	0	0	1	0	0	0	1154	1000	35	2	112	2	ATP5G3	2	176043125	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	418772	176043125	67156248	3005	5151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	46					3.07112e-06	3.16074e-06	1	1	0	A	176046212	C	A	176046212	5	1	22	1	0	0	0	0	0	0	1	0	1154	812	28	2		2	ATP5G3	2	176046212	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3087	176046212	67153161	3006	5152											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	332					1.64573e-32	1.94376e-32	1	1	0	T	176802174	G	T	176802174	3	4	22	1	0	0	0	0	1	0	0	0	8296	1174	41	2	342	2	KIAA1715	2	176802174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	755962	176802174	66397199	3007	5153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	309					0	0	1	0	0	T	176812408	C	T	176812408	3	4	22	1	0	0	0	0	1	0	0	0	8296	884	31	1	800	1	KIAA1715	2	176812408	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10234	176812408	66386965	3008	5154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	80					0	0	1	0	0	C	176844565	A	C	176844565	3	2	22	1	0	0	0	0	1	0	0	0	8296	72	3	3	1033	3	KIAA1715	2	176844565	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32157	176844565	66354808	3009	5155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*								21	277					0	0	1	0	0	G	176959324	T	G	176959324	3	3	22	1	0	0	0	0	1	0	0	0	7363	1493	52	3	904	3	HOXD13	2	176959324	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	114759	176959324	66240049	3010	5156											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													132	277					0	0	1	0	0	T	176964670	C	T	176964670	2	4	22	1	0	0	0	0	0	0	0	1	7362	755	27	1		1	HOXD12	2	176964670	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5346	176964670	66234703	3011	5157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	127					0	0	1	0	0	T	176964901	C	T	176964901	2	4	22	1	0	0	0	0	0	0	0	1	7362	738	26	2		2	HOXD12	2	176964901	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	231	176964901	66234472	3012	5158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	99					0	0	1	0	0	A	176965333	G	A	176965333	3	1	22	1	0	0	0	0	1	0	0	0	7362	1059	37	1	664	1	HOXD12	2	176965333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	432	176965333	66234040	3013	5159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	147					0	0	1	0	0	A	176987568	G	A	176987568	2	1	22	1	0	0	0	0	0	0	0	1	7367	1074	38	1		1	HOXD9	2	176987568	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22235	176987568	66211805	3014	5160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450510.2_Missense_Mutation_p.G98R|HOXD8_ENST00000544999.1_Missense_Mutation_p.G98R|HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000429017.1_Intron|HOXD-AS2_ENST00000440016.2_RNA	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													7	333					0	0	1	0	0	A	176995386	G	A	176995386	3	1	22	1	0	0	0	0	1	0	0	0	7366	1116	39	1	294	1	HOXD8	2	176995386	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7818	176995386	66203987	3015	5161											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	200					0	0	1	0	0	T	177016490	C	T	177016490	2	4	22	1	0	0	0	0	0	0	0	1	7365	755	27	1		1	HOXD4	2	177016490	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21104	177016490	66182883	3016	5162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178415760G>A	ENST00000408939.2	-	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	578					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													280	865					0	0	1	0	0	A	178415760	G	A	178415760	2	1	22	1	0	0	0	0	0	0	0	1	16761	962	34	2		2	TTC30B	2	178415760	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1399270	178415760	64783613	3017	5163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178482197C>A	ENST00000355689.4	-	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	411					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													245	914					2.90217e-92	3.72755e-92	1	1	0	A	178482197	C	A	178482197	3	1	22	1	0	0	0	0	1	0	0	0	16760	680	24	2	768	2	TTC30A	2	178482197	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66437	178482197	64717176	3018	5164											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178483101G>A	ENST00000355689.4	-	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	110					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													16	352					0	0	1	0	0	A	178483101	G	A	178483101	3	1	22	1	0	0	0	0	1	0	0	0	16760	1203	42	2	1672	2	TTC30A	2	178483101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	904	178483101	64716272	3019	5165											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178483364G>T	ENST00000355689.4	-	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	22					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													11	73					4.84862e-15	5.28562e-15	1	1	0	T	178483364	G	T	178483364	2	4	22	1	0	0	0	0	0	0	0	1	16760	1164	41	2		2	TTC30A	2	178483364	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263	178483364	64716009	3020	5166											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178592804G>A	ENST00000286063.5	-	11	2202	c.1885C>T	c.(1885-1887)Cgg>Tgg	p.R629W	PDE11A_ENST00000409504.1_Missense_Mutation_p.R271W|PDE11A_ENST00000449286.2_Missense_Mutation_p.R271W|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000389683.3_Missense_Mutation_p.R185W|PDE11A_ENST00000358450.4_Missense_Mutation_p.R379W	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	629					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				97	202					0	0	1	0	0	A	178592804	G	A	178592804	3	1	22	1	0	0	0	0	1	0	0	0	11678	1115	39	1	956	1	PDE11A	2	178592804	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109440	178592804	64606569	3021	5167											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	331					0	0	1	0	0	A	178977542	G	A	178977542	3	1	22	1	0	0	0	0	1	0	0	0	13191	1319	46	2	271	2	RBM45	2	178977542	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	384738	178977542	64221831	3022	5168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179192982G>A	ENST00000190611.4	+	5	571		c.e5-1		OSBPL6_ENST00000409045.3_Splice_Site|OSBPL6_ENST00000359685.3_Splice_Site|OSBPL6_ENST00000477097.1_Splice_Site|OSBPL6_ENST00000409631.1_Splice_Site|OSBPL6_ENST00000392505.2_Splice_Site|OSBPL6_ENST00000357080.4_Splice_Site|OSBPL6_ENST00000315022.2_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													93	510					0	0	1	0	0	A	179192982	G	A	179192982	5	1	22	1	0	0	0	0	0	0	1	0	11328	1014	35	2	248	2	OSBPL6	2	179192982	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215440	179192982	64006391	3023	5169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409045.3_Missense_Mutation_p.V620F|OSBPL6_ENST00000359685.3_Missense_Mutation_p.V615F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.V615F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.V676F|OSBPL6_ENST00000315022.2_Missense_Mutation_p.V655F	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													237	1248					3.68518e-59	4.62544e-59	1	1	0	T	179248841	G	T	179248841	3	4	22	1	0	0	0	0	1	0	0	0	11328	1029	36	2	2135	2	OSBPL6	2	179248841	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55859	179248841	63950532	3024	5170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409045.3_Missense_Mutation_p.L732P|OSBPL6_ENST00000359685.3_Missense_Mutation_p.L727P|OSBPL6_ENST00000409631.1_Missense_Mutation_p.L727P|OSBPL6_ENST00000392505.2_Missense_Mutation_p.L788P|OSBPL6_ENST00000315022.2_Missense_Mutation_p.L767P	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													65	146					0	0	1	0	0	C	179253867	T	C	179253867	3	2	22	1	0	0	0	0	1	0	0	0	11328	1551	54	3	2484	3	OSBPL6	2	179253867	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5026	179253867	63945506	3025	5171											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	491					0	0	1	0	0	G	179341872	T	G	179341872	3	3	22	1	0	0	0	0	1	0	0	0	5946	1667	58	3	390	3	FKBP7	2	179341872	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88005	179341872	63857501	3026	5172											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S33906Y|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S26607Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S32979Y|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S26482Y|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S26674Y|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588244.1_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													43	129					1.62957e-23	1.85347e-23	1	1	0	T	179393838	G	T	179393838	3	4	22	1	0	0	0	0	1	0	0	0	16797	942	33	2	1351	2	TTN	2	179393838	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51966	179393838	63805535	3027	5173											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.Q33637Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Silent_p.Q26338Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Silent_p.Q32710Q|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Silent_p.Q26213Q|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Silent_p.Q26405Q|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588244.1_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													10	200					0	0	1	0	0	T	179395508	C	T	179395508	2	4	22	1	0	0	0	0	0	0	0	1	16797	796	28	2		2	TTN	2	179395508	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1670	179395508	63803865	3028	5174											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R33409I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R26110I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32482I|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25985I|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26177I|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588244.1_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													105	323					6.17869e-53	7.6938e-53	1	1	0	A	179396193	C	A	179396193	3	1	22	1	0	0	0	0	1	0	0	0	16797	913	32	2	2850	2	TTN	2	179396193	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	685	179396193	63803180	3029	5175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A33192V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A25893V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A32265V|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A25768V|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A25960V|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_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													25	212					0	0	1	0	0	A	179396844	G	A	179396844	3	1	22	1	0	0	0	0	1	0	0	0	16797	1087	38	1	3501	1	TTN	2	179396844	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	651	179396844	63802529	3030	5176											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.S31848S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Silent_p.S24549S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Silent_p.S30921S|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Silent_p.S24424S|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Silent_p.S24616S|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_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													34	98					0	0	1	0	0	G	179401007	A	G	179401007	2	3	22	1	0	0	0	0	0	0	0	1	16797	175	7	3		3	TTN	2	179401007	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4163	179401007	63798366	3031	5177											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L31367F|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L24068F|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L30440F|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L23943F|TTN_ENST00000342175.6_Missense_Mutation_p.L24135F|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_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													161	406					0	0	1	0	0	A	179403534	G	A	179403534	3	1	22	1	0	0	0	0	1	0	0	0	16797	942	33	2	8993	2	TTN	2	179403534	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2527	179403534	63795839	3032	5178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V31322G|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V24023G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V30395G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V23898G|TTN_ENST00000342175.6_Missense_Mutation_p.V24090G	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													16	338					0	0	1	0	0	C	179403774	A	C	179403774	3	2	22	1	0	0	0	0	1	0	0	0	16797	43	2	3	9131	3	TTN	2	179403774	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	240	179403774	63795599	3033	5179											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T30729N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T23430N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T29802N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T23305N|TTN_ENST00000342175.6_Missense_Mutation_p.T23497N	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													155	755					4.13621e-57	5.17916e-57	1	1	0	T	179407472	G	T	179407472	3	4	22	1	0	0	0	0	1	0	0	0	16797	1029	36	2	10930	2	TTN	2	179407472	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3698	179407472	63791901	3034	5180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S30022Y|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22723Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29095Y|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22598Y|TTN_ENST00000342175.6_Missense_Mutation_p.S22790Y	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													183	547					2.18101e-91	2.80073e-91	1	1	0	T	179411070	G	T	179411070	3	4	22	1	0	0	0	0	1	0	0	0	16797	942	33	2	13075	2	TTN	2	179411070	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3598	179411070	63788303	3035	5181											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L29509F|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L22210F|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L28582F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L22085F|TTN_ENST00000342175.6_Missense_Mutation_p.L22277F	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													284	838					0	0	1	0	0	A	179412905	G	A	179412905	3	1	22	1	0	0	0	0	1	0	0	0	16797	971	34	2	14627	2	TTN	2	179412905	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1835	179412905	63786468	3036	5182											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A28960S|TTN-AS1_ENST00000592689.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A21661S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A28033S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A21536S|TTN_ENST00000342175.6_Missense_Mutation_p.A21728S	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													12	432					0.00136819	0.0013818	1	1	0	A	179414764	C	A	179414764	3	1	22	1	0	0	0	0	1	0	0	0	16797	797	28	2	16282	2	TTN	2	179414764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1859	179414764	63784609	3037	5183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P28478L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P21179L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P27551L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P21054L|TTN_ENST00000342175.6_Missense_Mutation_p.P21246L	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													32	169					0	0	1	0	0	A	179417271	G	A	179417271	3	1	22	1	0	0	0	0	1	0	0	0	16797	1348	47	2	17735	2	TTN	2	179417271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2507	179417271	63782102	3038	5184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A28087V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A20788V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A27160V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A20663V|TTN_ENST00000342175.6_Missense_Mutation_p.A20855V	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													41	190					0	0	1	0	0	A	179418655	G	A	179418655	3	1	22	1	0	0	0	0	1	0	0	0	16797	971	34	2	18916	2	TTN	2	179418655	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1384	179418655	63780718	3039	5185											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T28010N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T20711N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T27083N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T20586N|TTN_ENST00000342175.6_Missense_Mutation_p.T20778N	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													19	681					4.96729e-08	5.17613e-08	1	1	0	T	179418886	G	T	179418886	3	4	22	1	0	0	0	0	1	0	0	0	16797	1029	36	2	19147	2	TTN	2	179418886	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	231	179418886	63780487	3040	5186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H27927R|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H20628R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H27000R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H20503R|TTN_ENST00000342175.6_Missense_Mutation_p.H20695R	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													181	399					0	0	1	0	0	C	179419371	T	C	179419371	3	2	22	1	0	0	0	0	1	0	0	0	16797	1696	59	3	19400	3	TTN	2	179419371	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	485	179419371	63780002	3041	5187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R27864H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20565H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R26937H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R20440H|TTN_ENST00000342175.6_Missense_Mutation_p.R20632H	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													45	167					0	0	1	0	0	T	179419672	C	T	179419672	3	4	22	1	0	0	0	0	1	0	0	0	16797	768	27	1	19593	1	TTN	2	179419672	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	301	179419672	63779701	3042	5188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A27456V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A20157V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A26529V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A20032V|TTN_ENST00000342175.6_Missense_Mutation_p.A20224V	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													156	464					0	0	1	0	0	A	179422791	G	A	179422791	3	1	22	1	0	0	0	0	1	0	0	0	16797	971	34	2	20829	2	TTN	2	179422791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3119	179422791	63776582	3043	5189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.Y26670Y|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.Y19371Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.Y25743Y|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.Y19246Y|TTN_ENST00000342175.6_Silent_p.Y19438Y	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													64	276					0	0	1	0	0	A	179425926	G	A	179425926	2	1	22	1	0	0	0	0	0	0	0	1	16797	1024	36	2		2	TTN	2	179425926	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3135	179425926	63773447	3044	5190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.N25286N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.N17987N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.N24359N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.N17862N|TTN_ENST00000342175.6_Silent_p.N18054N	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													190	450					0	0	1	0	0	A	179430078	G	A	179430078	2	1	22	1	0	0	0	0	0	0	0	1	16797	1136	40	1		1	TTN	2	179430078	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4152	179430078	63769295	3045	5191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25161D|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17862D|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24234D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17737D|TTN_ENST00000342175.6_Missense_Mutation_p.E17929D	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													280	691					2.54815e-128	3.28172e-128	1	1	0	A	179430453	C	A	179430453	3	1	22	1	0	0	0	0	1	0	0	0	16797	912	32	2	27721	2	TTN	2	179430453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	375	179430453	63768920	3046	5192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V24296I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16997I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V23369I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V16872I|TTN_ENST00000342175.6_Missense_Mutation_p.V17064I	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													66	209					0	0	1	0	0	T	179433050	C	T	179433050	3	4	22	1	0	0	0	0	1	0	0	0	16797	565	20	2	30318	2	TTN	2	179433050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2597	179433050	63766323	3047	5193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G24085S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16786S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23158S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16661S|TTN_ENST00000342175.6_Missense_Mutation_p.G16853S	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													117	691					0	0	1	0	0	T	179433683	C	T	179433683	3	4	22	1	0	0	0	0	1	0	0	0	16797	594	21	2	30951	2	TTN	2	179433683	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	633	179433683	63765690	3048	5194											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R24000C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16701C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23073C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16576C|TTN_ENST00000342175.6_Missense_Mutation_p.R16768C	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													328	957					0	0	1	0	0	A	179433938	G	A	179433938	3	1	22	1	0	0	0	0	1	0	0	0	16797	1145	40	1	31206	1	TTN	2	179433938	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	255	179433938	63765435	3049	5195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y23755*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y16456*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y22828*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y16331*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y16523*	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													45	243					2.00842e-17	2.21757e-17	1	1	0	T	179434671	G	T	179434671	4	4	22	1	0	0	0	0	0	1	0	0	16797	1256	44	2	31939	2	TTN	2	179434671	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	733	179434671	63764702	3050	5196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.S21244S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.S13945S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.S20317S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.S13820S|TTN_ENST00000342175.6_Silent_p.S14012S	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													99	234					0	0	1	0	0	T	179442498	C	T	179442498	2	4	22	1	0	0	0	0	0	0	0	1	16797	871	31	1		1	TTN	2	179442498	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7827	179442498	63756875	3051	5197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D20848N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13549N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D19921N|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D13424N|TTN_ENST00000342175.6_Missense_Mutation_p.D13616N	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													47	368					0	0	1	0	0	T	179444459	C	T	179444459	3	4	22	1	0	0	0	0	1	0	0	0	16797	826	29	2	40690	2	TTN	2	179444459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1961	179444459	63754914	3052	5198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.I18908I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.I11609I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I17981I|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.I11484I|TTN_ENST00000342175.6_Silent_p.I11676I	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													37	370					3.62531e-18	4.01709e-18	1	1	0	T	179454805	G	T	179454805	2	4	22	1	0	0	0	0	0	0	0	1	16797	932	33	2		2	TTN	2	179454805	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10346	179454805	63744568	3053	5199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E18897*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E11598*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E17970*|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E11473*|TTN_ENST00000342175.6_Nonsense_Mutation_p.E11665*	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													154	337					9.55336e-64	1.2063e-63	1	1	0	A	179454840	C	A	179454840	4	1	22	1	0	0	0	0	0	1	0	0	16797	922	32	2	46603	2	TTN	2	179454840	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	179454840	63744533	3054	5200											
TTN	7273	broad.mit.edu	37	chr2	179455352	179455352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaggtggtttgatgggcCggcaagcttttattggatca	14	7	1	1	rs141973925	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179455352C>T	ENST00000589042.1	-	304	61324	c.61100G>A	c.(61099-61101)cGg>cAg	p.R20367Q	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R18726Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11427Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17799Q|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11302Q|TTN_ENST00000342175.6_Missense_Mutation_p.R11494Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18726	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)			TTTGATGGGCCGGCAAGCTTT	0.433													105	521					0	0	1	0	0	T	179455352	C	T	179455352	3	4	22	1	0	0	0	0	1	0	0	0	16797	652	23	1	47115	1	TTN	2	179455352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	512	179455352	63744021	3055	5201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A18297T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A10998T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17370T|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A10873T|TTN_ENST00000342175.6_Missense_Mutation_p.A11065T	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													32	150					0	0	1	0	0	T	179456819	C	T	179456819	3	4	22	1	0	0	0	0	1	0	0	0	16797	768	27	1	48411	1	TTN	2	179456819	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1467	179456819	63742554	3056	5202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R18064H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R10765H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17137H|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R10640H|TTN_ENST00000342175.6_Missense_Mutation_p.R10832H	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													239	599					0	0	1	0	0	T	179457732	C	T	179457732	3	4	22	1	0	0	0	0	1	0	0	0	16797	536	19	1	49117	1	TTN	2	179457732	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	913	179457732	63741641	3057	5203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S17901F|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S10602F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S16974F|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S10477F|TTN_ENST00000342175.6_Missense_Mutation_p.S10669F	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													13	318					0	0	1	0	0	A	179458402	G	A	179458402	3	1	22	1	0	0	0	0	1	0	0	0	16797	942	33	2	49614	2	TTN	2	179458402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	670	179458402	63740971	3058	5204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.T17756T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.T10457T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T16829T|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.T10332T|TTN_ENST00000342175.6_Silent_p.T10524T	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													53	252					0	0	1	0	0	T	179458929	C	T	179458929	2	4	22	1	0	0	0	0	0	0	0	1	16797	871	31	1		1	TTN	2	179458929	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	527	179458929	63740444	3059	5205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I17469F|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I10170F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I16542F|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I10045F|TTN_ENST00000342175.6_Missense_Mutation_p.I10237F	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													51	248					0	0	1	0	0	A	179462481	T	A	179462481	3	1	22	1	0	0	0	0	1	0	0	0	16797	1435	50	5		5	TTN	2	179462481	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3552	179462481	63736892	3060	5206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E17441K|TTN_ENST00000359218.5_Missense_Mutation_p.E10142K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E16514K|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E10017K|TTN_ENST00000342175.6_Missense_Mutation_p.E10209K	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													83	404					0	0	1	0	0	T	179462653	C	T	179462653	3	4	22	1	0	0	0	0	1	0	0	0	16797	835	29	2	50729	2	TTN	2	179462653	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172	179462653	63736720	3061	5207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R17257H|TTN_ENST00000359218.5_Missense_Mutation_p.R9958H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R16330H|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9833H|TTN_ENST00000342175.6_Missense_Mutation_p.R10025H	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													28	251					0	0	1	0	0	T	179463744	C	T	179463744	3	4	22	1	0	0	0	0	1	0	0	0	16797	536	19	1	51288	1	TTN	2	179463744	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1091	179463744	63735629	3062	5208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.P16962P|TTN_ENST00000359218.5_Silent_p.P9663P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.P16035P|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.P9538P|TTN_ENST00000342175.6_Silent_p.P9730P	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													81	382					0	0	1	0	0	T	179465822	C	T	179465822	2	4	22	1	0	0	0	0	0	0	0	1	16797	871	31	1		1	TTN	2	179465822	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2078	179465822	63733551	3063	5209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D16791N|TTN_ENST00000359218.5_Missense_Mutation_p.D9492N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D15864N|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D9367N|TTN_ENST00000342175.6_Missense_Mutation_p.D9559N	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													43	265					0	0	1	0	0	T	179466617	C	T	179466617	3	4	22	1	0	0	0	0	1	0	0	0	16797	913	32	2	52711	2	TTN	2	179466617	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	795	179466617	63732756	3064	5210											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A16372T|TTN_ENST00000359218.5_Missense_Mutation_p.A9073T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A15445T|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A8948T|TTN_ENST00000342175.6_Missense_Mutation_p.A9140T	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													53	334					0	0	1	0	0	T	179469867	C	T	179469867	3	4	22	1	0	0	0	0	1	0	0	0	16797	710	25	2	53988	2	TTN	2	179469867	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3250	179469867	63729506	3065	5211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S15615I|TTN_ENST00000359218.5_Missense_Mutation_p.S8316I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S14688I|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S8191I|TTN_ENST00000342175.6_Missense_Mutation_p.S8383I	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													78	399					1.68136e-41	2.04314e-41	1	1	0	A	179474270	C	A	179474270	3	1	22	1	0	0	0	0	1	0	0	0	16797	797	28	2	56286	2	TTN	2	179474270	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4403	179474270	63725103	3066	5212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A15587T|TTN_ENST00000359218.5_Missense_Mutation_p.A8288T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A14660T|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A8163T|TTN_ENST00000342175.6_Missense_Mutation_p.A8355T	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													312	944					0	0	1	0	0	T	179474468	C	T	179474468	3	4	22	1	0	0	0	0	1	0	0	0	16797	768	27	1	56375	1	TTN	2	179474468	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198	179474468	63724905	3067	5213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.E15558E|TTN_ENST00000359218.5_Silent_p.E8259E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.E14631E|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.E8134E|TTN_ENST00000342175.6_Silent_p.E8326E	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													208	1990					0	0	1	0	0	C	179474553	T	C	179474553	2	2	22	1	0	0	0	0	0	0	0	1	16797	1722	60	3		3	TTN	2	179474553	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	85	179474553	63724820	3068	5214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A14825T|TTN_ENST00000359218.5_Missense_Mutation_p.A7526T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13898T|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A7401T|TTN_ENST00000342175.6_Missense_Mutation_p.A7593T	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													165	491					0	0	1	0	0	T	179478614	C	T	179478614	3	4	22	1	0	0	0	0	1	0	0	0	16797	768	27	1	58697	1	TTN	2	179478614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4061	179478614	63720759	3069	5215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D14441E|TTN_ENST00000359218.5_Missense_Mutation_p.D7142E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D13514E|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7017E|TTN_ENST00000342175.6_Missense_Mutation_p.D7209E	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													149	453					0	0	1	0	0	C	179481272	A	C	179481272	3	2	22	1	0	0	0	0	1	0	0	0	16797	214	8	3	59871	3	TTN	2	179481272	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2658	179481272	63718101	3070	5216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A14326V|TTN_ENST00000359218.5_Missense_Mutation_p.A7027V|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13399V|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A6902V|TTN_ENST00000342175.6_Missense_Mutation_p.A7094V	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													103	548					0	0	1	0	0	A	179481716	G	A	179481716	3	1	22	1	0	0	0	0	1	0	0	0	16797	1319	46	2	60221	2	TTN	2	179481716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	444	179481716	63717657	3071	5217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S13677F|TTN_ENST00000359218.5_Missense_Mutation_p.S6378F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S12750F|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S6253F|TTN_ENST00000342175.6_Missense_Mutation_p.S6445F	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													87	223					0	0	1	0	0	A	179485295	G	A	179485295	3	1	22	1	0	0	0	0	1	0	0	0	16797	942	33	2	62200	2	TTN	2	179485295	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3579	179485295	63714078	3072	5218											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R13577Q|TTN_ENST00000359218.5_Missense_Mutation_p.R6278Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12650Q|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R6153Q|TTN_ENST00000342175.6_Missense_Mutation_p.R6345Q	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													6	260					0	0	1	0	0	T	179485684	C	T	179485684	3	4	22	1	0	0	0	0	1	0	0	0	16797	652	23	1	62504	1	TTN	2	179485684	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	389	179485684	63713689	3073	5219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R12855L|TTN_ENST00000359218.5_Missense_Mutation_p.R5556L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11928L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R5431L|TTN_ENST00000342175.6_Missense_Mutation_p.R5623L	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													20	54					4.96729e-08	5.17613e-08	1	1	0	A	179497134	C	A	179497134	3	1	22	1	0	0	0	0	1	0	0	0	16797	652	23	4	64714	4	TTN	2	179497134	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11450	179497134	63702239	3074	5220											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591111.1_Missense_Mutation_p.R12140C|TTN_ENST00000359218.5_Missense_Mutation_p.R4841C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11213C|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4716C|TTN_ENST00000342175.6_Missense_Mutation_p.R4908C	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													20	63					0	0	1	0	0	A	179500957	G	A	179500957	3	1	22	1	0	0	0	0	1	0	0	0	16797	1087	38	1	66900	1	TTN	2	179500957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3823	179500957	63698416	3075	5221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591111.1_Missense_Mutation_p.R11860H|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R4561H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R10933H|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4436H|TTN_ENST00000342175.6_Missense_Mutation_p.R4628H	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													6	45					0	0	1	0	0	T	179507020	C	T	179507020	3	4	22	1	0	0	0	0	1	0	0	0	16797	768	27	1	67767	1	TTN	2	179507020	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6063	179507020	63692353	3076	5222											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591111.1_Silent_p.V11577V|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V10650V|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	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													128	459					0	0	1	0	0	T	179516866	C	T	179516866	2	4	22	1	0	0	0	0	0	0	0	1	16797	697	25	2		2	TTN	2	179516866	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9846	179516866	63682507	3077	5223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	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													23	1046					0	0	1	0	0	G	179528605	A	G	179528605	3	3	22	1	0	0	0	0	1	0	0	0	16797	348	12	3		3	TTN	2	179528605	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11739	179528605	63670768	3078	5224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591111.1_Missense_Mutation_p.R10701W|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9774W|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	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													209	715					0	0	1	0	0	A	179547466	G	A	179547466	3	1	22	1	0	0	0	0	1	0	0	0	16797	1086	38	1	71389	1	TTN	2	179547466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18861	179547466	63651907	3079	5225											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591111.1_Missense_Mutation_p.S9777F|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S8850F|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	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													14	482					0	0	1	0	0	A	179567333	G	A	179567333	3	1	22	1	0	0	0	0	1	0	0	0	16797	942	33	2	74272	2	TTN	2	179567333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19867	179567333	63632040	3080	5226											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591111.1_Nonsense_Mutation_p.R9734*|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R8807*|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	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													192	511					0	0	1	0	0	A	179568946	G	A	179568946	4	1	22	1	0	0	0	0	0	1	0	0	16797	1066	37	1	74406	1	TTN	2	179568946	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1613	179568946	63630427	3081	5227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591111.1_Missense_Mutation_p.L9624M|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L8697M|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	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													8	98					5.4927e-09	5.7613e-09	1	1	0	T	179569378	G	T	179569378	3	4	22	1	0	0	0	0	1	0	0	0	16797	1020	36	2	74740	2	TTN	2	179569378	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	432	179569378	63629995	3082	5228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591111.1_Missense_Mutation_p.A9091D|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A8164D|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	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													60	379					8.77104e-35	1.04431e-34	1	1	0	T	179575601	G	T	179575601	3	4	22	1	0	0	0	0	1	0	0	0	16797	971	34	2	76366	2	TTN	2	179575601	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6223	179575601	63623772	3083	5229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591111.1_Missense_Mutation_p.S8777N|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S7850N|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	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													53	279					0	0	1	0	0	T	179577471	C	T	179577471	3	4	22	1	0	0	0	0	1	0	0	0	16797	797	28	2	77324	2	TTN	2	179577471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1870	179577471	63621902	3084	5230											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591111.1_Missense_Mutation_p.A7499V|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A6572V|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	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													77	224					0	0	1	0	0	A	179584922	G	A	179584922	3	1	22	1	0	0	0	0	1	0	0	0	16797	1203	42	2	81210	2	TTN	2	179584922	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7451	179584922	63614451	3085	5231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I6685V|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I5758V|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	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													59	280					0	0	1	0	0	C	179589098	T	C	179589098	3	2	22	1	0	0	0	0	1	0	0	0	16797	1493	52	3	83689	3	TTN	2	179589098	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4176	179589098	63610275	3086	5232											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179593619T>G	ENST00000589042.1	-	65	19370	c.19147_splice	c.e65+1	p.Q6382_splice	TTN_ENST00000591111.1_Splice_Site_p.Q6065_splice|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.Q5138_splice|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	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													60	148					0	0	1	0	0	G	179593619	T	G	179593619	5	3	22	1	0	0	0	0	0	0	1	0	16797	1623	56	3	85575	3	TTN	2	179593619	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4521	179593619	63605754	3087	5233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591111.1_Missense_Mutation_p.L5001I|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L4074I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	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													76	419					7.07328e-35	8.4269e-35	1	1	0	T	179598068	G	T	179598068	3	4	22	1	0	0	0	0	1	0	0	0	16797	971	34	2	88813	2	TTN	2	179598068	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4449	179598068	63601305	3088	5234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591111.1_Missense_Mutation_p.S4931N|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S4004N|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	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													159	434					0	0	1	0	0	T	179598373	C	T	179598373	3	4	22	1	0	0	0	0	1	0	0	0	16797	797	28	2	89026	2	TTN	2	179598373	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	305	179598373	63601000	3089	5235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591111.1_Silent_p.P4850P|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.P3923P|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	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													73	191					0	0	1	0	0	G	179598615	A	G	179598615	2	3	22	1	0	0	0	0	0	0	0	1	16797	291	11	3		3	TTN	2	179598615	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	242	179598615	63600758	3090	5236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I4284T|TTN_ENST00000359218.5_Missense_Mutation_p.I4363T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I4238T|TTN_ENST00000342175.6_Missense_Mutation_p.I4430T	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													9	378					0	0	1	0	0	G	179604158	A	G	179604158	3	3	22	1	0	0	0	0	1	0	0	0	16797	333	12	3	90987	3	TTN	2	179604158	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5543	179604158	63595215	3091	5237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P3618H|TTN_ENST00000359218.5_Missense_Mutation_p.P3697H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P3572H|TTN_ENST00000342175.6_Missense_Mutation_p.P3764H	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													126	718					2.98534e-63	3.76712e-63	1	1	0	T	179606156	G	T	179606156	3	4	22	1	0	0	0	0	1	0	0	0	16797	1000	35	2	92985	2	TTN	2	179606156	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1998	179606156	63593217	3092	5238											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_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													20	292					0	0	1	0	0	T	179610329	C	T	179610329	3	4	22	1	0	0	0	0	1	0	0	0	16797	797	28	2	93499	2	TTN	2	179610329	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4173	179610329	63589044	3093	5239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_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													100	285					1.43697e-34	1.7097e-34	1	1	0	A	179612429	C	A	179612429	4	1	22	1	0	0	0	0	0	1	0	0	16797	922	32	2	95599	2	TTN	2	179612429	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2100	179612429	63586944	3094	5240											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_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													90	220					0	0	1	0	0	A	179612581	G	A	179612581	3	1	22	1	0	0	0	0	1	0	0	0	16797	1377	48	2	95751	2	TTN	2	179612581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152	179612581	63586792	3095	5241											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_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													64	320					0	0	1	0	0	T	179613691	C	T	179613691	3	4	22	1	0	0	0	0	1	0	0	0	16797	913	32	2	96861	2	TTN	2	179613691	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1110	179613691	63585682	3096	5242											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_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													33	171					0	0	1	0	0	T	179615383	C	T	179615383	3	4	22	1	0	0	0	0	1	0	0	0	16797	884	31	1	98553	1	TTN	2	179615383	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1692	179615383	63583990	3097	5243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_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													151	698					1.74067e-55	2.17579e-55	1	1	0	A	179616305	C	A	179616305	4	1	22	1	0	0	0	0	0	1	0	0	16797	922	32	2	99475	2	TTN	2	179616305	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	922	179616305	63583068	3098	5244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_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													98	446					0	0	1	0	0	G	179616447	A	G	179616447	2	3	22	1	0	0	0	0	0	0	0	1	16797	330	12	3		3	TTN	2	179616447	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	142	179616447	63582926	3099	5245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Silent_p.T3505T	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													66	210					0	0	1	0	0	T	179621175	C	T	179621175	2	4	22	1	0	0	0	0	0	0	0	1	16797	639	23	1		1	TTN	2	179621175	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4728	179621175	63578198	3100	5246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591111.1_Missense_Mutation_p.R3204Q|TTN_ENST00000359218.5_Missense_Mutation_p.R3158Q|TTN_ENST00000360870.5_Missense_Mutation_p.R3204Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R3204Q|TTN_ENST00000460472.2_Missense_Mutation_p.R3158Q|TTN_ENST00000342175.6_Missense_Mutation_p.R3158Q	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													91	506					0	0	1	0	0	T	179631200	C	T	179631200	3	4	22	1	0	0	0	0	1	0	0	0	16797	884	31	1	101665	1	TTN	2	179631200	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10025	179631200	63568173	3101	5247											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591111.1_Missense_Mutation_p.G2656D|TTN_ENST00000359218.5_Missense_Mutation_p.G2610D|TTN_ENST00000360870.5_Missense_Mutation_p.G2656D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G2656D|TTN_ENST00000460472.2_Missense_Mutation_p.G2610D|TTN_ENST00000342175.6_Missense_Mutation_p.G2610D	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													8	338					0	0	1	0	0	T	179636087	C	T	179636087	3	4	22	1	0	0	0	0	1	0	0	0	16797	739	26	2	103337	2	TTN	2	179636087	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4887	179636087	63563286	3102	5248											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G2334V|TTN_ENST00000359218.5_Missense_Mutation_p.G2288V|TTN_ENST00000360870.5_Missense_Mutation_p.G2334V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G2334V|TTN_ENST00000460472.2_Missense_Mutation_p.G2288V|TTN_ENST00000342175.6_Missense_Mutation_p.G2288V	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													134	428					3.75716e-53	4.6801e-53	1	1	0	A	179638990	C	A	179638990	3	1	22	1	0	0	0	0	1	0	0	0	16797	855	30	2	104319	2	TTN	2	179638990	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2903	179638990	63560383	3103	5249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591111.1_Missense_Mutation_p.A2015T|TTN_ENST00000359218.5_Missense_Mutation_p.A1969T|TTN_ENST00000360870.5_Missense_Mutation_p.A2015T|TTN_ENST00000342992.6_Missense_Mutation_p.A2015T|TTN_ENST00000460472.2_Missense_Mutation_p.A1969T|TTN_ENST00000342175.6_Missense_Mutation_p.A1969T	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													151	772					0	0	1	0	0	T	179640548	C	T	179640548	3	4	22	1	0	0	0	0	1	0	0	0	16797	768	27	1	105285	1	TTN	2	179640548	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1558	179640548	63558825	3104	5250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591111.1_Silent_p.G1097G|TTN_ENST00000359218.5_Silent_p.G1051G|TTN_ENST00000360870.5_Silent_p.G1097G|TTN_ENST00000342992.6_Silent_p.G1097G|TTN_ENST00000460472.2_Silent_p.G1051G|TTN_ENST00000342175.6_Silent_p.G1051G	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													70	330					1.26778e-28	1.47706e-28	1	1	0	A	179647028	C	A	179647028	2	1	22	1	0	0	0	0	0	0	0	1	16797	842	30	2		2	TTN	2	179647028	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6480	179647028	63552345	3105	5251											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591111.1_Silent_p.R1003R|TTN_ENST00000359218.5_Silent_p.R957R|TTN_ENST00000360870.5_Silent_p.R1003R|TTN_ENST00000342992.6_Silent_p.R1003R|TTN_ENST00000460472.2_Silent_p.R957R|TTN_ENST00000342175.6_Silent_p.R957R	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													26	368					7.92952e-12	8.47903e-12	1	1	0	T	179647624	G	T	179647624	2	4	22	1	0	0	0	0	0	0	0	1	16797	1074	38	4		4	TTN	2	179647624	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	596	179647624	63551749	3106	5252											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591111.1_Missense_Mutation_p.R674G|TTN_ENST00000359218.5_Missense_Mutation_p.R628G|TTN_ENST00000360870.5_Missense_Mutation_p.R674G|TTN_ENST00000342992.6_Missense_Mutation_p.R674G|TTN_ENST00000460472.2_Missense_Mutation_p.R628G|TTN_ENST00000342175.6_Missense_Mutation_p.R628G	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													79	440					0	0	1	0	0	C	179654143	T	C	179654143	3	2	22	1	0	0	0	0	1	0	0	0	16797	1559	54	3	109368	3	TTN	2	179654143	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6519	179654143	63545230	3107	5253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.R814Q	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													56	166					0	0	1	0	0	T	179701780	C	T	179701780	3	4	22	1	0	0	0	0	1	0	0	0	2793	884	31	1	190	1	CCDC141	2	179701780	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47637	179701780	63497593	3108	5254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.F794F	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													56	152					0	0	1	0	0	A	179701839	G	A	179701839	2	1	22	1	0	0	0	0	0	0	0	1	2793	933	33	2		2	CCDC141	2	179701839	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59	179701839	63497534	3109	5255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179714776C>T	ENST00000420890.2	-	21	3474	c.3357_splice	c.e21+1	p.K1119_splice	CCDC141_ENST00000295723.5_Splice_Site_p.K544_splice	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													53	282					0	0	1	0	0	T	179714776	C	T	179714776	5	4	22	1	0	0	0	0	0	0	1	0	2793	695	24	2	1007	2	CCDC141	2	179714776	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12937	179714776	63484597	3110	5256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	315					0	0	1	0	0	T	179720079	C	T	179720079	3	4	22	1	0	0	0	0	1	0	0	0	2793	922	32	2	1317	2	CCDC141	2	179720079	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5303	179720079	63479294	3111	5257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													175	854					3.52614e-80	4.50875e-80	1	1	0	A	179730620	C	A	179730620	3	1	22	1	0	0	0	0	1	0	0	0	2793	912	32	2	1782	2	CCDC141	2	179730620	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10541	179730620	63468753	3112	5258											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	365					0	0	1	0	0	A	179736940	G	A	179736940	3	1	22	1	0	0	0	0	1	0	0	0	2793	1057	37	1	2397	1	CCDC141	2	179736940	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6320	179736940	63462433	3113	5259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Silent_p.P368P|ZNF385B_ENST00000336917.5_Silent_p.P368P|ZNF385B_ENST00000409343.1_Silent_p.P394P	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													68	192					0	0	1	0	0	T	180307983	C	T	180307983	2	4	22	1	0	0	0	0	0	0	0	1	17934	523	19	1		1	ZNF385B	2	180307983	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	571043	180307983	62891390	3114	5260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Silent_p.P335P|ZNF385B_ENST00000336917.5_Silent_p.P335P|ZNF385B_ENST00000409343.1_Silent_p.P361P	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													24	152					3.08376e-08	3.21767e-08	1	1	0	T	180308082	G	T	180308082	2	4	22	1	0	0	0	0	0	0	0	1	17934	987	35	2		2	ZNF385B	2	180308082	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99	180308082	62891291	3115	5261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.R214H|ZNF385B_ENST00000336917.5_Missense_Mutation_p.R214H|ZNF385B_ENST00000409343.1_Missense_Mutation_p.R240H	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													54	328					0	0	1	0	0	T	180310425	C	T	180310425	3	4	22	1	0	0	0	0	1	0	0	0	17934	536	19	1	480	1	ZNF385B	2	180310425	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2343	180310425	62888948	3116	5262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	34					0	0	1	0	0	C	180817221	T	C	180817221	2	2	22	1	0	0	0	0	0	0	0	1	4091	1722	60	3		3	CWC22	2	180817221	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	506796	180817221	62382152	3117	5263											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	56					0	0	1	0	0	T	180837941	C	T	180837941	2	4	22	1	0	0	0	0	0	0	0	1	4091	755	27	1		1	CWC22	2	180837941	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20720	180837941	62361432	3118	5264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	79					0	0	1	0	0	G	180842944	A	G	180842944	3	3	22	1	0	0	0	0	1	0	0	0	4091	72	3	3	2232	3	CWC22	2	180842944	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5003	180842944	62356429	3119	5265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392415.2_Missense_Mutation_p.S2F|UBE2E3_ENST00000602959.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000602632.1_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													68	262					0	0	1	0	0	T	181846774	C	T	181846774	3	4	22	1	0	0	0	0	1	0	0	0	16915	855	30	2	7	2	UBE2E3	2	181846774	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1003830	181846774	61352599	3120	5266											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409440.3_Missense_Mutation_p.N352T|CERKL_ENST00000374970.2_Missense_Mutation_p.N301T|CERKL_ENST00000374969.2_Missense_Mutation_p.N257T|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000339098.5_Missense_Mutation_p.N396T	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													27	146					0	0	1	0	0	G	182413296	T	G	182413296	3	3	22	1	0	0	0	0	1	0	0	0	3290	1725	60	3	513	3	CERKL	2	182413296	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	566522	182413296	60786077	3121	5267											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	104	530					0	0	1	0	0	T	182542881	C	T	182542881	3	4	22	1	0	0	0	0	1	0	0	0	10395	797	28	2	367	2	NEUROD1	2	182542881	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129585	182542881	60656492	3122	5268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	435					0	0	1	0	0	T	182543157	C	T	182543157	3	4	22	1	0	0	0	0	1	0	0	0	10395	768	27	1	643	1	NEUROD1	2	182543157	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	276	182543157	60656216	3123	5269											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000320370.7_Missense_Mutation_p.A882S|SSFA2_ENST00000409136.1_Missense_Mutation_p.A391S|SSFA2_ENST00000428267.2_Missense_Mutation_p.A729S|SSFA2_ENST00000409001.1_Missense_Mutation_p.A882S	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													116	370					8.58103e-55	1.07165e-54	1	1	0	T	182781011	G	T	182781011	3	4	22	1	0	0	0	0	1	0	0	0	15239	1087	38	4	2686	4	SSFA2	2	182781011	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237854	182781011	60418362	3124	5270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000320370.7_Missense_Mutation_p.Q925H|SSFA2_ENST00000409136.1_Missense_Mutation_p.Q434H|SSFA2_ENST00000428267.2_Missense_Mutation_p.Q772H|SSFA2_ENST00000409001.1_Missense_Mutation_p.Q925H	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													50	247					3.4597e-24	3.94879e-24	1	1	0	T	182781142	G	T	182781142	3	4	22	1	0	0	0	0	1	0	0	0	15239	933	33	2	2817	2	SSFA2	2	182781142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131	182781142	60418231	3125	5271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000320370.7_Nonsense_Mutation_p.Q974*|SSFA2_ENST00000409136.1_Nonsense_Mutation_p.Q483*|SSFA2_ENST00000428267.2_Nonsense_Mutation_p.Q821*|SSFA2_ENST00000409001.1_Nonsense_Mutation_p.Q974*	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													51	249					0	0	1	0	0	T	182783536	C	T	182783536	4	4	22	1	0	0	0	0	0	1	0	0	15239	479	17	2	2970	2	SSFA2	2	182783536	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2394	182783536	60415837	3126	5272											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000456212.1_Silent_p.E7E|PDE1A_ENST00000331935.6_Silent_p.E7E|PDE1A_ENST00000358139.2_Silent_p.E7E|PDE1A_ENST00000410103.1_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													93	490					0	0	1	0	0	T	183387083	C	T	183387083	2	4	22	1	0	0	0	0	0	0	0	1	11680	912	32	2		2	PDE1A	2	183387083	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	603547	183387083	59812290	3127	5273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183699691C>T	ENST00000295113.4	-	6	1472	c.861_splice	c.e6-1	p.R288_splice		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													110	328					0	0	1	0	0	T	183699691	C	T	183699691	5	4	22	1	0	0	0	0	0	0	1	0	6100	782	27	1	118	1	FRZB	2	183699691	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	312608	183699691	59499682	3128	5274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183791578C>A	ENST00000360982.2	-	31	4012	c.3254G>T	c.(3253-3255)aGa>aTa	p.R1085I	NCKAP1_ENST00000361354.3_Missense_Mutation_p.R1079I	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	1079					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													77	222					3.49902e-48	4.31606e-48	1	1	0	A	183791578	C	A	183791578	3	1	22	1	0	0	0	0	1	0	0	0	10268	913	32	2	158	2	NCKAP1	2	183791578	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91887	183791578	59407795	3129	5275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183793529A>G	ENST00000360982.2	-	29	3828	c.3070T>C	c.(3070-3072)Tac>Cac	p.Y1024H	NCKAP1_ENST00000478449.1_5'UTR|NCKAP1_ENST00000361354.3_Missense_Mutation_p.Y1018H	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	1018					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													76	260					0	0	1	0	0	G	183793529	A	G	183793529	3	3	22	1	0	0	0	0	1	0	0	0	10268	391	14	3	350	3	NCKAP1	2	183793529	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1951	183793529	59405844	3130	5276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183800055G>A	ENST00000360982.2	-	26	3520	c.2762C>T	c.(2761-2763)tCc>tTc	p.S921F	NCKAP1_ENST00000478449.1_5'UTR|NCKAP1_ENST00000361354.3_Missense_Mutation_p.S915F	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	915					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													65	218					0	0	1	0	0	A	183800055	G	A	183800055	3	1	22	1	0	0	0	0	1	0	0	0	10268	1174	41	2	670	2	NCKAP1	2	183800055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6526	183800055	59399318	3131	5277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183850942T>C	ENST00000360982.2	-	11	1737	c.979A>G	c.(979-981)Att>Gtt	p.I327V	NCKAP1_ENST00000361354.3_Missense_Mutation_p.I321V	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	321					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													32	156					0	0	1	0	0	C	183850942	T	C	183850942	3	2	22	1	0	0	0	0	1	0	0	0	10268	1406	49	3	2513	3	NCKAP1	2	183850942	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	50887	183850942	59348431	3132	5278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183867735A>G	ENST00000360982.2	-	5	1112	c.354T>C	c.(352-354)aaT>aaC	p.N118N	NCKAP1_ENST00000361354.3_Silent_p.N112N	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	112					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													8	146					0	0	1	0	0	G	183867735	A	G	183867735	2	3	22	1	0	0	0	0	0	0	0	1	10268	446	16	3		3	NCKAP1	2	183867735	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16793	183867735	59331638	3133	5279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	446					0	0	1	0	0	G	185802746	T	G	185802746	3	3	22	1	0	0	0	0	1	0	0	0	18219	1490	52	3	2637	3	ZNF804A	2	185802746	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1935011	185802746	57396627	3134	5280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													145	436					0	0	1	0	0	G	185803264	A	G	185803264	2	3	22	1	0	0	0	0	0	0	0	1	18219	378	14	3		3	ZNF804A	2	185803264	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	518	185803264	57396109	3135	5281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	341					0	0	1	0	0	G	186671080	A	G	186671080	3	3	22	1	0	0	0	0	1	0	0	0	6110	14	1	3	17380	3	FSIP2	2	186671080	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	867816	186671080	56528293	3136	5282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	284					2.23044e-30	2.6157e-30	1	1	0	A	186671708	C	A	186671708	3	1	22	1	0	0	0	0	1	0	0	0	6110	681	24	2	18008	2	FSIP2	2	186671708	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	628	186671708	56527665	3137	5283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	378					0	0	1	0	0	A	186671858	G	A	186671858	3	1	22	1	0	0	0	0	1	0	0	0	6110	1174	41	2	18158	2	FSIP2	2	186671858	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	150	186671858	56527515	3138	5284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	169					4.13886e-29	4.83036e-29	1	1	0	T	186672574	G	T	186672574	4	4	22	1	0	0	0	0	0	1	0	0	6110	943	33	2	18874	2	FSIP2	2	186672574	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	716	186672574	56526799	3139	5285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	437					0	0	1	0	0	G	186673515	A	G	186673515	2	3	22	1	0	0	0	0	0	0	0	1	6110	40	2	3		3	FSIP2	2	186673515	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	941	186673515	56525858	3140	5286											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	81					0	0	1	0	0	T	186678279	C	T	186678279	3	4	22	1	0	0	0	0	1	0	0	0	6110	797	28	2	20172	2	FSIP2	2	186678279	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4764	186678279	56521094	3141	5287											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	253					0	0	1	0	0	T	187370212	C	T	187370212	3	4	22	1	0	0	0	0	1	0	0	0	17626	565	20	2	778	2	ZC3H15	2	187370212	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	691933	187370212	55829161	3142	5288											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002201.1	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													73	245					7.62596e-35	9.08233e-35	1	1	0	A	187455135	C	A	187455135	3	1	22	1	0	0	0	0	1	0	0	0	7932	680	24	2	72	2	ITGAV	2	187455135	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84923	187455135	55744238	3143	5289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374907.3_Missense_Mutation_p.R242M|ITGAV_ENST00000433736.2_Missense_Mutation_p.R232M	NM_002210.3	NP_002201.1	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													8	258					0.000157383	0.000159814	1	1	0	T	187503034	G	T	187503034	3	4	22	1	0	0	0	0	1	0	0	0	7932	1000	35	2	918	2	ITGAV	2	187503034	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47899	187503034	55696339	3144	5290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374907.3_Silent_p.G263G|ITGAV_ENST00000433736.2_Silent_p.G253G	NM_002210.3	NP_002201.1	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													58	285					0	0	1	0	0	T	187503186	C	T	187503186	2	4	22	1	0	0	0	0	0	0	0	1	7932	755	27	1		1	ITGAV	2	187503186	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152	187503186	55696187	3145	5291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374907.3_Missense_Mutation_p.H696Y|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.H686Y	NM_002210.3	NP_002201.1	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													55	330					0	0	1	0	0	T	187531458	C	T	187531458	3	4	22	1	0	0	0	0	1	0	0	0	7932	710	25	2	2331	2	ITGAV	2	187531458	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28272	187531458	55667915	3146	5292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	472					0	0	1	0	0	A	187694554	G	A	187694554	3	1	22	1	0	0	0	0	1	0	0	0	18281	1029	36	2	914	2	ZSWIM2	2	187694554	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163096	187694554	55504819	3147	5293											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.S248N	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													129	440					0	0	1	0	0	T	188332545	C	T	188332545	3	4	22	1	0	0	0	0	1	0	0	0	15868	565	20	2	179	2	TFPI	2	188332545	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	637991	188332545	54866828	3148	5294											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.E95A|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													77	364					0	0	1	0	0	G	188361643	T	G	188361643	3	3	22	1	0	0	0	0	1	0	0	0	15868	1783	62	3	786	3	TFPI	2	188361643	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29098	188361643	54837730	3149	5295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													169	523					0	0	1	0	0	A	189599453	G	A	189599453	2	1	22	1	0	0	0	0	0	0	0	1	4561	963	34	2		2	DIRC1	2	189599453	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1237810	189599453	53599920	3150	5296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000081.1	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													77	373					0	0	1	0	0	T	189862066	C	T	189862066	3	4	22	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	3151	5297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000081.1	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													112	344					0	0	1	0	0	T	189872614	C	T	189872614	3	4	22	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	3152	5298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	153					0	0	1	0	0	T	189901341	C	T	189901341	5	4	22	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	3153	5299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	96					0	0	1	0	0	T	189914108	C	T	189914108	3	4	22	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	3154	5300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	171					0	0	1	0	0	T	189917698	C	T	189917698	3	4	22	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	3155	5301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	344					1.61879e-10	1.71755e-10	1	1	0	A	189922062	C	A	189922062	3	1	22	1	0	0	0	0	1	0	0	0	3720	739	26	2	2262	2	COL5A2	2	189922062	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4364	189922062	53277311	3156	5302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	327					0	0	1	0	0	G	189929383	T	G	189929383	5	3	22	1	0	0	0	0	0	0	1	0	3720	1594	55	3	3003	3	COL5A2	2	189929383	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7321	189929383	53269990	3157	5303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	236					4.16155e-14	4.51065e-14	1	1	0	A	189975161	C	A	189975161	4	1	22	1	0	0	0	0	0	1	0	0	3720	922	32	2	4599	2	COL5A2	2	189975161	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45778	189975161	53224212	3158	5304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	121					0	0	1	0	0	G	190426914	A	G	190426914	3	3	22	1	0	0	0	0	1	0	0	0	14683	72	3	3	313	3	SLC40A1	2	190426914	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	451753	190426914	52772459	3159	5305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_061921.1	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													102	509					0	0	1	0	0	A	190531602	G	A	190531602	2	1	22	1	0	0	0	0	0	0	0	1	1048	1310	46	2		2	ASNSD1	2	190531602	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104688	190531602	52667771	3160	5306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431575.2_Missense_Mutation_p.D893N|ANKAR_ENST00000313581.4_Missense_Mutation_p.D964N|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													57	167					0	0	1	0	0	A	190593005	G	A	190593005	3	1	22	1	0	0	0	0	1	0	0	0	619	942	33	2	2940	2	ANKAR	2	190593005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61403	190593005	52606368	3161	5307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447232.2_Intron|PMS1_ENST00000418224.3_Silent_p.L471L|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_Silent_p.L471L|PMS1_ENST00000409823.3_Silent_p.L608L	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)					150	458					0	0	1	0	0	T	190728551	C	T	190728551	2	4	22	1	0	0	0	0	0	0	0	1	12190	564	20	2		2	PMS1	2	190728551	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135546	190728551	52470822	3162	5308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447232.2_Missense_Mutation_p.R757H|PMS1_ENST00000418224.3_Missense_Mutation_p.R743H|PMS1_ENST00000432292.3_Missense_Mutation_p.R743H|PMS1_ENST00000409823.3_Missense_Mutation_p.R880H	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)					59	170					0	0	1	0	0	A	190742119	G	A	190742119	3	1	22	1	0	0	0	0	1	0	0	0	12190	1087	38	1	2802	1	PMS1	2	190742119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13568	190742119	52457254	3163	5309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													143	653					1.94422e-76	2.48084e-76	1	1	0	A	190924940	C	A	190924940	3	1	22	1	0	0	0	0	1	0	0	0	9941	681	24	2	540	2	MSTN	2	190924940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182821	190924940	52274433	3164	5310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													149	817					0	0	1	0	0	G	191064772	A	G	191064772	2	3	22	1	0	0	0	0	0	0	0	1	2216	146	6	3		3	C2orf88	2	191064772	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	139832	191064772	52134601	3165	5311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													209	573					0	0	1	0	0	A	191301736	G	A	191301736	2	1	22	1	0	0	0	0	0	0	0	1	9585	962	34	2		2	MFSD6	2	191301736	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	236964	191301736	51897637	3166	5312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	237					0	0	1	0	0	A	191769834	G	A	191769834	3	1	22	1	0	0	0	0	1	0	0	0	6505	1058	37	1	942	1	GLS	2	191769834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	468098	191769834	51429539	3167	5313											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000471443.1_3'UTR|GLS_ENST00000409626.1_Nonsense_Mutation_p.W143*|GLS_ENST00000320717.3_Intron|GLS_ENST00000409428.1_Intron|GLS_ENST00000409215.1_Nonsense_Mutation_p.W77*	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													31	92					0	0	1	0	0	A	191797507	G	A	191797507	4	1	22	1	0	0	0	0	0	1	0	0	6505	1189	41	2		2	GLS	2	191797507	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27673	191797507	51401866	3168	5314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409465.1_Silent_p.G695G|STAT1_ENST00000392323.2_Silent_p.G697G	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													50	162					0	0	1	0	0	A	191840588	G	A	191840588	2	1	22	1	0	0	0	0	0	0	0	1	15320	1190	42	2		2	STAT1	2	191840588	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43081	191840588	51358785	3169	5315											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409465.1_Missense_Mutation_p.A415D|STAT1_ENST00000392323.2_Missense_Mutation_p.A417D	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													74	218					1.78839e-46	2.19748e-46	1	1	0	T	191850364	G	T	191850364	3	4	22	1	0	0	0	0	1	0	0	0	15320	971	34	2	1056	2	STAT1	2	191850364	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9776	191850364	51349009	3170	5316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000470708.1_5'UTR|STAT4_ENST00000358470.4_Silent_p.T430T	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													125	409					0	0	1	0	0	T	191905836	C	T	191905836	2	4	22	1	0	0	0	0	0	0	0	1	15323	523	19	1		1	STAT4	2	191905836	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55472	191905836	51293537	3171	5317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000339514.4_Missense_Mutation_p.S193Y|MYO1B_ENST00000392316.1_Missense_Mutation_p.S193Y|MYO1B_ENST00000304164.4_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													54	906					4.00472e-15	4.3668e-15	1	1	0	A	192225372	C	A	192225372	3	1	22	1	0	0	0	0	1	0	0	0	10117	913	32	2	604	2	MYO1B	2	192225372	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	319536	192225372	50974001	3172	5318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000339514.4_Nonsense_Mutation_p.R367*|MYO1B_ENST00000392316.1_Nonsense_Mutation_p.R367*|MYO1B_ENST00000304164.4_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													39	374					0	0	1	0	0	T	192234334	C	T	192234334	4	4	22	1	0	0	0	0	0	1	0	0	10117	876	31	1	1141	1	MYO1B	2	192234334	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8962	192234334	50965039	3173	5319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000439065.2_Missense_Mutation_p.I89M|MYO1B_ENST00000339514.4_Intron|MYO1B_ENST00000392316.1_Missense_Mutation_p.I815M|MYO1B_ENST00000304164.4_Missense_Mutation_p.I844M	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													51	116					0	0	1	0	0	G	192267420	T	G	192267420	3	3	22	1	0	0	0	0	1	0	0	0	10117	1829	64	3	2622	3	MYO1B	2	192267420	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33086	192267420	50931953	3174	5320											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000439065.2_Missense_Mutation_p.D349G|MYO1B_ENST00000339514.4_Missense_Mutation_p.D1046G|MYO1B_ENST00000392316.1_Missense_Mutation_p.D1075G|MYO1B_ENST00000304164.4_Missense_Mutation_p.D1104G	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													15	647					0	0	1	0	0	G	192288586	A	G	192288586	3	3	22	1	0	0	0	0	1	0	0	0	10117	275	10	3	3429	3	MYO1B	2	192288586	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21166	192288586	50910787	3175	5321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	232					0	0	1	0	0	C	192711348	T	C	192711348	3	2	22	1	0	0	0	0	1	0	0	0	14024	1821	63	3	981	3	SDPR	2	192711348	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	422762	192711348	50488025	3176	5322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	252					4.63251e-29	5.40574e-29	1	1	0	T	192711440	G	T	192711440	3	4	22	1	0	0	0	0	1	0	0	0	14024	971	34	2	1073	2	SDPR	2	192711440	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92	192711440	50487933	3177	5323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	439					2.87052e-16	3.15093e-16	1	1	0	T	196741347	G	T	196741347	3	4	22	1	0	0	0	0	1	0	0	0	4633	971	34	2	6152	2	DNAH7	2	196741347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4029907	196741347	46458026	3178	5324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	504					0	0	1	0	0	T	196746544	C	T	196746544	3	4	22	1	0	0	0	0	1	0	0	0	4633	855	30	2	6258	2	DNAH7	2	196746544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5197	196746544	46452829	3179	5325											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	288					0	0	1	0	0	G	196746672	A	G	196746672	2	3	22	1	0	0	0	0	0	0	0	1	4633	291	11	3		3	DNAH7	2	196746672	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	128	196746672	46452701	3180	5326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	276					0	0	1	0	0	A	196788367	G	A	196788367	2	1	22	1	0	0	0	0	0	0	0	1	4633	1078	38	1		1	DNAH7	2	196788367	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41695	196788367	46411006	3181	5327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197143304G>A	ENST00000260983.2	-	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	1028	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													18	349					0	0	1	0	0	A	197143304	G	A	197143304	3	1	22	1	0	0	0	0	1	0	0	0	7084	1087	38	1	1695	1	HECW2	2	197143304	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	354937	197143304	46056069	3182	5328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197157417G>A	ENST00000260983.2	-	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	958	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													50	254					0	0	1	0	0	A	197157417	G	A	197157417	3	1	22	1	0	0	0	0	1	0	0	0	7084	1115	39	1	1910	1	HECW2	2	197157417	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14113	197157417	46041956	3183	5329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197183767G>T	ENST00000260983.2	-	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	616					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													63	140					1.80625e-27	2.09175e-27	1	1	0	T	197183767	G	T	197183767	3	4	22	1	0	0	0	0	1	0	0	0	7084	1232	43	2	2955	2	HECW2	2	197183767	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26350	197183767	46015606	3184	5330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197184558G>A	ENST00000260983.2	-	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	352					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													55	274					0	0	1	0	0	A	197184558	G	A	197184558	2	1	22	1	0	0	0	0	0	0	0	1	7084	1103	39	1		1	HECW2	2	197184558	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	791	197184558	46014815	3185	5331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197297957C>T	ENST00000260983.2	-	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	64					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													127	326					0	0	1	0	0	T	197297957	C	T	197297957	3	4	22	1	0	0	0	0	1	0	0	0	7084	797	28	2	4639	2	HECW2	2	197297957	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113399	197297957	45901416	3186	5332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197298094C>A	ENST00000260983.2	-	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	18					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													13	440					2.68362e-12	2.87888e-12	1	1	0	A	197298094	C	A	197298094	3	1	22	1	0	0	0	0	1	0	0	0	7084	912	32	2	4776	2	HECW2	2	197298094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137	197298094	45901279	3187	5333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	205					3.73176e-21	4.1971e-21	1	1	0	A	197596779	C	A	197596779	3	1	22	1	0	0	0	0	1	0	0	0	2803	797	28	2	3198	2	CCDC150	2	197596779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	298685	197596779	45602594	3188	5334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	400					0	0	1	0	0	C	197631301	T	C	197631301	2	2	22	1	0	0	0	0	0	0	0	1	6915	1683	59	3		3	GTF3C3	2	197631301	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34522	197631301	45568072	3189	5335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	231					0	0	1	0	0	G	197654005	A	G	197654005	2	3	22	1	0	0	0	0	0	0	0	1	6915	214	8	3		3	GTF3C3	2	197654005	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22704	197654005	45545368	3190	5336											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	395					0	0	1	0	0	C	197672174	T	C	197672174	3	2	22	1	0	0	0	0	1	0	0	0	2199	1841	64	3	10	3	C2orf66	2	197672174	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18169	197672174	45527199	3191	5337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197767389C>A	ENST00000354764.3	-	5	841	c.727G>T	c.(727-729)Gga>Tga	p.G243*	PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Nonsense_Mutation_p.G201*|PGAP1_ENST00000409475.1_Nonsense_Mutation_p.G243*	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	243					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													17	406					9.7654e-05	9.93505e-05	1	1	0	A	197767389	C	A	197767389	4	1	22	1	0	0	0	0	0	1	0	0	11825	690	24	2	2133	2	PGAP1	2	197767389	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95215	197767389	45431984	3192	5338											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	375					0	0	1	0	0	A	198361910	G	A	198361910	2	1	22	1	0	0	0	0	0	0	0	1	7472	958	34	2		2	HSPD1	2	198361910	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	594521	198361910	44837463	3193	5339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	501					2.48779e-11	2.65321e-11	1	1	0	T	198363459	G	T	198363459	2	4	22	1	0	0	0	0	0	0	0	1	7472	987	35	2		2	HSPD1	2	198363459	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1549	198363459	44835914	3194	5340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	174					0	0	1	0	0	A	198363569	G	A	198363569	3	1	22	1	0	0	0	0	1	0	0	0	7472	971	34	2	1761	2	HSPD1	2	198363569	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110	198363569	44835804	3195	5341											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198460765C>T	ENST00000295049.3	-	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	395						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													17	266					0	0	1	0	0	T	198460765	C	T	198460765	3	4	22	1	0	0	0	0	1	0	0	0	13311	536	19	1	330	1	RFTN2	2	198460765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97196	198460765	44738608	3196	5342	35	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198460774T>C	ENST00000295049.3	-	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	392						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													38	217					0	0	1	0	0	C	198460774	T	C	198460774	3	2	22	1	0	0	0	0	1	0	0	0	13311	1850	64	3	339	3	RFTN2	2	198460774	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9	198460774	44738599	3197	5343	35	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198511301C>T	ENST00000295049.3	-	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	77						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													14	427					0	0	1	0	0	T	198511301	C	T	198511301	3	4	22	1	0	0	0	0	1	0	0	0	13311	652	23	1	1308	1	RFTN2	2	198511301	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50527	198511301	44688072	3198	5344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198540075G>A	ENST00000295049.3	-	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	36						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													60	680					0	0	1	0	0	A	198540075	G	A	198540075	2	1	22	1	0	0	0	0	0	0	0	1	13311	1140	40	1		1	RFTN2	2	198540075	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28774	198540075	44659298	3199	5345											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													141	354					0	0	1	0	0	A	198570573	G	A	198570573	2	1	22	1	0	0	0	0	0	0	0	1	9367	962	34	2		2	MARS2	2	198570573	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30498	198570573	44628800	3200	5346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	165					0	0	1	0	0	A	198949647	G	A	198949647	3	1	22	1	0	0	0	0	1	0	0	0	12087	1058	37	1	1412	1	PLCL1	2	198949647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	379074	198949647	44249726	3201	5347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	260					0	0	1	0	0	T	198950755	C	T	198950755	2	4	22	1	0	0	0	0	0	0	0	1	12087	535	19	1		1	PLCL1	2	198950755	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1108	198950755	44248618	3202	5348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	199					0	0	1	0	0	T	198950910	C	T	198950910	3	4	22	1	0	0	0	0	1	0	0	0	12087	768	27	1	2675	1	PLCL1	2	198950910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	198950910	44248463	3203	5349											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	197					0	0	1	0	0	A	198968628	G	A	198968628	3	1	22	1	0	0	0	0	1	0	0	0	12087	1291	45	2	3091	2	PLCL1	2	198968628	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17718	198968628	44230745	3204	5350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	148					0	0	1	0	0	A	199011668	G	A	199011668	2	1	22	1	0	0	0	0	0	0	0	1	12087	991	35	2		2	PLCL1	2	199011668	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43040	199011668	44187705	3205	5351											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428695.1_Silent_p.N583N|SATB2_ENST00000417098.1_Silent_p.N701N|SATB2_ENST00000260926.5_Silent_p.N701N|SATB2_ENST00000457245.1_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													115	494					0	0	1	0	0	A	200137033	G	A	200137033	2	1	22	1	0	0	0	0	0	0	0	1	13907	1136	40	1		1	SATB2	2	200137033	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1125365	200137033	43062340	3206	5352											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428695.1_Missense_Mutation_p.R549W|SATB2_ENST00000417098.1_Missense_Mutation_p.R667W|SATB2_ENST00000260926.5_Missense_Mutation_p.R667W|SATB2_ENST00000457245.1_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													16	645					0	0	1	0	0	A	200137137	G	A	200137137	3	1	22	1	0	0	0	0	1	0	0	0	13907	1086	38	1	206	1	SATB2	2	200137137	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104	200137137	43062236	3207	5353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428695.1_Missense_Mutation_p.A532V|SATB2_ENST00000417098.1_Missense_Mutation_p.A650V|SATB2_ENST00000260926.5_Missense_Mutation_p.A650V|SATB2_ENST00000457245.1_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													88	469					0	0	1	0	0	A	200137187	G	A	200137187	3	1	22	1	0	0	0	0	1	0	0	0	13907	971	34	2	256	2	SATB2	2	200137187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50	200137187	43062186	3208	5354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428695.1_Silent_p.H452H|SATB2_ENST00000417098.1_Silent_p.H570H|SATB2_ENST00000260926.5_Silent_p.H570H|SATB2_ENST00000457245.1_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													110	522					0	0	1	0	0	A	200173513	G	A	200173513	2	1	22	1	0	0	0	0	0	0	0	1	13907	1136	40	1		1	SATB2	2	200173513	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36326	200173513	43025860	3209	5355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	279					0	0	1	0	0	T	200790131	C	T	200790131	3	4	22	1	0	0	0	0	1	0	0	0	2202	536	19	1	686	1	C2orf69	2	200790131	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	616618	200790131	42409242	3210	5356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	492					0	0	1	0	0	C	200824039	T	C	200824039	2	2	22	1	0	0	0	0	0	0	0	1	2183	1722	60	3		3	C2orf47	2	200824039	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33908	200824039	42375334	3211	5357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	273					0	0	1	0	0	T	201355148	C	T	201355148	3	4	22	1	0	0	0	0	1	0	0	0	8149	768	27	1	328	1	KCTD18	2	201355148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	531109	201355148	41844225	3212	5358											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	253					0	0	1	0	0	G	201355283	T	G	201355283	3	3	22	1	0	0	0	0	1	0	0	0	8149	1609	56	3	463	3	KCTD18	2	201355283	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	135	201355283	41844090	3213	5359											
SGOL2	151246	broad.mit.edu	37	chr2	201437003	201437004	+	Frame_Shift_Ins	INS	-	-	T													catggcctaaaaaaaggtaaINStttttttttcaaaacccaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201437003_201437004insT	ENST00000357799.4	+	7	2032_2033	c.1934_1935insT	c.(1933-1935)attfs	p.I645fs		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)	645					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						AAAAAAGGTAATTTTTTTTTCA	0.337													11	713	---	---	---	---						T	201437004	-	T	201437003	7	5	22	1	0	1	1	0	0	0	0	0	14271	101	4	0	1956	0	SGOL2	2	201437003	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	81720	201437003	41762370	3214	5360											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	514					3.59392e-34	4.27159e-34	1	1	0	T	201469468	G	T	201469468	3	4	22	1	0	0	0	0	1	0	0	0	725	942	33	2	753	2	AOX1	2	201469468	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32465	201469468	41729905	3215	5361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	562					0	0	1	0	0	A	201477379	G	A	201477379	2	1	22	1	0	0	0	0	0	0	0	1	725	1074	38	1		1	AOX1	2	201477379	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7911	201477379	41721994	3216	5362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	292					0	0	1	0	0	C	201722536	A	C	201722536	3	2	22	1	0	0	0	0	1	0	0	0	3559	72	3	3	745	3	CLK1	2	201722536	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	245157	201722536	41476837	3217	5363											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	452					0	0	1	0	0	C	201722711	T	C	201722711	3	2	22	1	0	0	0	0	1	0	0	0	3559	1667	58	3	836	3	CLK1	2	201722711	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	175	201722711	41476662	3218	5364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	412					1.05635e-38	1.2743e-38	1	1	0	A	201722796	C	A	201722796	3	1	22	1	0	0	0	0	1	0	0	0	3559	797	28	2	921	2	CLK1	2	201722796	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85	201722796	41476577	3219	5365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201887576A>C	ENST00000418596.2	-	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	44						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ATCTTGAATAACTTTATAGAG	0.328													61	331					0	0	1	0	0	C	201887576	A	C	201887576	3	2	22	1	0	0	0	0	1	0	0	0	5461	43	2	3	1497	3	FAM126B	2	201887576	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	164780	201887576	41311797	3220	5366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201994608A>G	ENST00000395148.2	+	2	232	c.20A>G	c.(19-21)cAt>cGt	p.H7R	CFLAR_ENST00000355558.4_Missense_Mutation_p.H7R|CFLAR_ENST00000341582.6_Missense_Mutation_p.H7R|CFLAR_ENST00000341222.6_Missense_Mutation_p.H7R|CFLAR_ENST00000340870.5_Missense_Mutation_p.H7R|CFLAR_ENST00000440180.1_Missense_Mutation_p.H7R|CFLAR_ENST00000309955.2_Missense_Mutation_p.H7R|CFLAR_ENST00000423241.2_Missense_Mutation_p.H7R|CFLAR_ENST00000342795.5_Missense_Mutation_p.H7R|CFLAR_ENST00000457277.1_Missense_Mutation_p.H7R|CFLAR_ENST00000443227.1_Intron			O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	7	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													187	611					0	0	1	0	0	G	201994608	A	G	201994608	3	3	22	1	0	0	0	0	1	0	0	0	3314	217	8	3	22	3	CFLAR	2	201994608	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	107032	201994608	41204765	3221	5367											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201994684G>A	ENST00000395148.2	+	2	308	c.96G>A	c.(94-96)gtG>gtA	p.V32V	CFLAR_ENST00000355558.4_Silent_p.V32V|CFLAR_ENST00000341582.6_Silent_p.V32V|CFLAR_ENST00000341222.6_Silent_p.V32V|CFLAR_ENST00000340870.5_Silent_p.V32V|CFLAR_ENST00000440180.1_Silent_p.V32V|CFLAR_ENST00000309955.2_Silent_p.V32V|CFLAR_ENST00000423241.2_Silent_p.V32V|CFLAR_ENST00000342795.5_Silent_p.V32V|CFLAR_ENST00000457277.1_Silent_p.V32V|CFLAR_ENST00000443227.1_Intron			O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	32	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													216	673					0	0	1	0	0	A	201994684	G	A	201994684	2	1	22	1	0	0	0	0	0	0	0	1	3314	1335	47	2		2	CFLAR	2	201994684	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76	201994684	41204689	3222	5368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202005146C>A	ENST00000309955.2	+	5	1105	c.590C>A	c.(589-591)cCt>cAt	p.P197H	CFLAR_ENST00000355558.4_Missense_Mutation_p.P197H|CFLAR_ENST00000341582.6_Missense_Mutation_p.P197H|CFLAR_ENST00000341222.6_Missense_Mutation_p.P197H|CFLAR_ENST00000494258.1_Missense_Mutation_p.P101H|CFLAR_ENST00000340870.5_Missense_Mutation_p.P197H|CFLAR_ENST00000440180.1_Missense_Mutation_p.P197H|CFLAR_ENST00000479953.2_Missense_Mutation_p.P101H|CFLAR-AS1_ENST00000474886.2_RNA|CFLAR_ENST00000423241.2_Missense_Mutation_p.P197H|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000342795.5_Missense_Mutation_p.P197H|CFLAR_ENST00000457277.1_Missense_Mutation_p.P197H|CFLAR_ENST00000443227.1_Missense_Mutation_p.P101H	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	197	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													115	334					3.3835e-51	4.19742e-51	1	1	0	A	202005146	C	A	202005146	3	1	22	1	0	0	0	0	1	0	0	0	3314	681	24	2	604	2	CFLAR	2	202005146	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10462	202005146	41194227	3223	5369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202025276C>T	ENST00000309955.2	+	9	1430	c.915C>T	c.(913-915)taC>taT	p.Y305Y	CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000341582.6_Silent_p.Y270Y|CFLAR_ENST00000340870.5_Silent_p.Y305Y|CFLAR_ENST00000479953.2_Silent_p.Y209Y|CFLAR_ENST00000423241.2_Silent_p.Y305Y|CFLAR_ENST00000457277.1_Silent_p.Y305Y|CFLAR_ENST00000443227.1_Silent_p.Y209Y	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	305	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													74	785					0	0	1	0	0	T	202025276	C	T	202025276	2	4	22	1	0	0	0	0	0	0	0	1	3314	547	19	1		1	CFLAR	2	202025276	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20130	202025276	41174097	3224	5370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360132.3_Missense_Mutation_p.R21H|CASP10_ENST00000272879.5_Missense_Mutation_p.R21H|CASP10_ENST00000346817.5_Missense_Mutation_p.R21H|CASP10_ENST00000313728.7_Missense_Mutation_p.R21H|CASP10_ENST00000374650.3_Missense_Mutation_p.R21H|CASP10_ENST00000448480.1_Missense_Mutation_p.R21H|CASP10_ENST00000492363.1_3'UTR	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													134	419					0	0	1	0	0	A	202050562	G	A	202050562	3	1	22	1	0	0	0	0	1	0	0	0	2687	1145	40	1	64	1	CASP10	2	202050562	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25286	202050562	41148811	3225	5371											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360132.3_Intron|CASP10_ENST00000272879.5_Intron|CASP10_ENST00000346817.5_Intron|CASP10_ENST00000313728.7_Intron|CASP10_ENST00000286186.6_Intron|CASP10_ENST00000448480.1_Intron|CASP10_ENST00000492363.1_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													46	125					3.7052e-28	4.30569e-28	1	1	0	T	202065193	G	T	202065193	4	4	22	1	0	0	0	0	0	1	0	0	2687	1015	35	2		2	CASP10	2	202065193	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14631	202065193	41134180	3226	5372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000323492.7_Silent_p.E381E|CASP8_ENST00000264274.9_Silent_p.E312E|CASP8_ENST00000264275.5_Silent_p.E413E|CASP8_ENST00000432109.2_Silent_p.E396E|CASP8_ENST00000392259.2_3'UTR	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)			86	246					0	0	1	0	0	A	202149924	G	A	202149924	2	1	22	1	0	0	0	0	0	0	0	1	2695	991	35	2		2	CASP8	2	202149924	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84731	202149924	41049449	3227	5373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000323492.7_Nonsense_Mutation_p.R417*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R348*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R449*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.R432*|CASP8_ENST00000392259.2_3'UTR	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)			96	298					0	0	1	0	0	T	202150030	C	T	202150030	4	4	22	1	0	0	0	0	0	1	0	0	2695	760	27	1	1601	1	CASP8	2	202150030	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106	202150030	41049343	3228	5374											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	379					0	0	1	0	0	G	202254168	A	G	202254168	3	3	22	1	0	0	0	0	1	0	0	0	16511	304	11	3	1512	3	TRAK2	2	202254168	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	104138	202254168	40945205	3229	5375											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	150					3.93418e-24	4.48831e-24	1	1	0	T	202257678	G	T	202257678	3	4	22	1	0	0	0	0	1	0	0	0	16511	1000	35	2	1705	2	TRAK2	2	202257678	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3510	202257678	40941695	3230	5376											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	140					0	0	1	0	0	T	202272137	A	T	202272137	3	4	22	1	0	0	0	0	1	0	0	0	16511	246	9	5	2525	5	TRAK2	2	202272137	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14459	202272137	40927236	3231	5377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	329					0	0	1	0	0	T	202339474	C	T	202339474	2	4	22	1	0	0	0	0	0	0	0	1	15381	668	24	2		2	STRADB	2	202339474	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67337	202339474	40859899	3232	5378											
ALS2CR11	151254	broad.mit.edu	37	chr2	202352352	202352352	+	Frame_Shift_Del	DEL	T	T	-													ttttcaatatcctcttttaaTtttttttggccgcattttat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202352352delT	ENST00000439140.1	-	16	5490	c.5446delA	c.(5446-5448)ttfs	p.I1816fs	ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs|ALS2CR11_ENST00000439802.1_3'UTR	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	619										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTCTTTTAATTTTTTTTGGC	0.323													10	535	---	---	---	---						-	202352352	T	-	202352352	7	5	22	1	0	1	0	1	0	0	0	0	548	1493	52	0	20	0	ALS2CR11	2	202352352	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	12878	202352352	40847021	3233	5379											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428900.2_Missense_Mutation_p.L408I|MPP4_ENST00000447335.2_Missense_Mutation_p.L425I|MPP4_ENST00000359962.5_Missense_Mutation_p.L432I|MPP4_ENST00000409143.1_Missense_Mutation_p.L374I|MPP4_ENST00000396886.3_Missense_Mutation_p.L357I|MPP4_ENST00000315506.7_Missense_Mutation_p.L388I	NM_033066.2	NP_149055.1	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													6	47					0.0293803	0.0294705	1	1	0	T	202520927	G	T	202520927	3	4	22	1	0	0	0	0	1	0	0	0	9785	971	34	2	643	2	MPP4	2	202520927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168575	202520927	40678446	3234	5380											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	409					5.90632e-09	6.19411e-09	1	1	0	T	202622146	G	T	202622146	3	4	22	1	0	0	0	0	1	0	0	0	546	1000	35	2	3643	2	ALS2	2	202622146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101219	202622146	40577227	3235	5381											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													187	601					5.0888e-88	6.52675e-88	1	1	0	A	202625825	C	A	202625825	3	1	22	1	0	0	0	0	1	0	0	0	546	826	29	2	4283	2	ALS2	2	202625825	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3679	202625825	40573548	3236	5382											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467448.1_Missense_Mutation_p.T31P|ALS2_ENST00000496244.1_5'UTR	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													71	176					0	0	1	0	0	G	202632036	T	G	202632036	3	3	22	1	0	0	0	0	1	0	0	0	546	1725	60	3	5088	3	ALS2	2	202632036	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6211	202632036	40567337	3237	5383											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434439.1_Missense_Mutation_p.D362Y|CDK15_ENST00000260967.2_Missense_Mutation_p.D311Y|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													15	209					1.49906e-05	1.53515e-05	1	1	0	T	202744776	G	T	202744776	3	4	22	1	0	0	0	0	1	0	0	0	3153	942	33	2	973	2	CDK15	2	202744776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112740	202744776	40454597	3238	5384											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434439.1_Silent_p.V376V|CDK15_ENST00000260967.2_Silent_p.V325V|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													57	211					7.10663e-31	8.35009e-31	1	1	0	A	202744820	C	A	202744820	2	1	22	1	0	0	0	0	0	0	0	1	3153	900	32	2		2	CDK15	2	202744820	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44	202744820	40454553	3239	5385											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	16	403					0	0	1	0	0	T	202900483	C	T	202900483	2	4	22	1	0	0	0	0	0	0	0	1	6170	535	19	1		1	FZD7	2	202900483	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155663	202900483	40298890	3240	5386											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	126	384					0	0	1	0	0	T	202900639	C	T	202900639	2	4	22	1	0	0	0	0	0	0	0	1	6170	784	28	2		2	FZD7	2	202900639	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	156	202900639	40298734	3241	5387											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	133					0	0	1	0	0	G	203139885	T	G	203139885	3	3	22	1	0	0	0	0	1	0	0	0	10587	1841	64	3	101	3	NOP58	2	203139885	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	239246	203139885	40059488	3242	5388											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	508					0	0	1	0	0	T	203149180	C	T	203149180	3	4	22	1	0	0	0	0	1	0	0	0	10587	797	28	2	428	2	NOP58	2	203149180	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9295	203149180	40050193	3243	5389											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	222					0	0	1	0	0	T	203395674	C	T	203395674	2	4	22	1	0	0	0	0	0	0	0	1	1470	767	27	1		1	BMPR2	2	203395674	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	246494	203395674	39803699	3244	5390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	402					0	0	1	0	0	T	203417590	C	T	203417590	3	4	22	1	0	0	0	0	1	0	0	0	1470	913	32	2	1607	2	BMPR2	2	203417590	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21916	203417590	39781783	3245	5391											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	275					0	0	1	0	0	T	203420850	C	T	203420850	3	4	22	1	0	0	0	0	1	0	0	0	1470	739	26	2	2508	2	BMPR2	2	203420850	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3260	203420850	39778523	3246	5392											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	258					0	0	1	0	0	T	203424527	C	T	203424527	3	4	22	1	0	0	0	0	1	0	0	0	1470	855	30	2	3025	2	BMPR2	2	203424527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3677	203424527	39774846	3247	5393											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	232					0	0	1	0	0	T	204016309	C	T	204016309	2	4	22	1	0	0	0	0	0	0	0	1	10236	912	32	2		2	NBEAL1	2	204016309	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	591782	204016309	39183064	3248	5394											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	480					9.24773e-40	1.11906e-39	1	1	0	A	204032000	C	A	204032000	3	1	22	1	0	0	0	0	1	0	0	0	10236	913	32	2	5969	2	NBEAL1	2	204032000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15691	204032000	39167373	3249	5395											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429815.2_Missense_Mutation_p.R64I|CYP20A1_ENST00000461371.1_Intron	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													18	1201					2.32078e-09	2.442e-09	1	1	0	T	204111546	G	T	204111546	3	4	22	1	0	0	0	0	1	0	0	0	4175	942	33	2	201	2	CYP20A1	2	204111546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79546	204111546	39087827	3250	5396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429815.2_Missense_Mutation_p.G170D|CYP20A1_ENST00000461371.1_3'UTR	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													190	527					0	0	1	0	0	A	204131313	G	A	204131313	3	1	22	1	0	0	0	0	1	0	0	0	4175	1261	44	2	527	2	CYP20A1	2	204131313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19767	204131313	39068060	3251	5397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429815.2_Silent_p.L371L|CYP20A1_ENST00000461371.1_3'UTR	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													89	592					0	0	1	0	0	T	204156990	C	T	204156990	2	4	22	1	0	0	0	0	0	0	0	1	4175	871	31	1		1	CYP20A1	2	204156990	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25677	204156990	39042383	3252	5398											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422511.2_Missense_Mutation_p.L76M|ABI2_ENST00000424558.1_Missense_Mutation_p.L76M|ABI2_ENST00000430418.1_Missense_Mutation_p.L76M|ABI2_ENST00000295851.4_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													61	260					2.6711e-34	3.17551e-34	1	1	0	A	204231708	C	A	204231708	4	1	22	1	0	0	0	0	0	1	0	0	89	796	28	2	232	2	ABI2	2	204231708	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74718	204231708	38967665	3253	5399											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453034.1_Missense_Mutation_p.R553H|RAPH1_ENST00000457812.1_Missense_Mutation_p.R501H|RAPH1_ENST00000418114.1_Missense_Mutation_p.R501H|RAPH1_ENST00000419464.1_Missense_Mutation_p.R501H|RAPH1_ENST00000374489.2_Missense_Mutation_p.R528H|RAPH1_ENST00000439222.1_Missense_Mutation_p.R526H|RAPH1_ENST00000374493.3_Missense_Mutation_p.R553H|RAPH1_ENST00000374488.2_Missense_Mutation_p.R526H|RAPH1_ENST00000423104.1_Missense_Mutation_p.R528H|RAPH1_ENST00000308091.4_Missense_Mutation_p.R553H	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													96	329					0	0	1	0	0	T	204313471	C	T	204313471	3	4	22	1	0	0	0	0	1	0	0	0	13102	768	27	1	2273	1	RAPH1	2	204313471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81763	204313471	38885902	3254	5400											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453034.1_Nonsense_Mutation_p.R473*|RAPH1_ENST00000457812.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000418114.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000419464.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000374489.2_Nonsense_Mutation_p.R448*|RAPH1_ENST00000439222.1_Nonsense_Mutation_p.R446*|RAPH1_ENST00000374493.3_Nonsense_Mutation_p.R473*|RAPH1_ENST00000374488.2_Nonsense_Mutation_p.R446*|RAPH1_ENST00000423104.1_Nonsense_Mutation_p.R448*|RAPH1_ENST00000308091.4_Nonsense_Mutation_p.R473*	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													15	766					0	0	1	0	0	A	204320201	G	A	204320201	4	1	22	1	0	0	0	0	0	1	0	0	13102	1095	38	1	2522	1	RAPH1	2	204320201	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6730	204320201	38879172	3255	5401											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000472206.1_Missense_Mutation_p.L69I|CTLA4_ENST00000487393.1_3'UTR|CTLA4_ENST00000295854.6_Missense_Mutation_p.L164I			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													32	339					3.93418e-24	4.48831e-24	1	1	0	A	204737463	C	A	204737463	3	1	22	1	0	0	0	0	1	0	0	0	4035	912	32	2	614	2	CTLA4	2	204737463	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	417262	204737463	38461910	3256	5402											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000462231.1_Silent_p.K243K|PARD3B_ENST00000358768.2_Silent_p.K243K|PARD3B_ENST00000351153.1_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													70	336					0	0	1	0	0	A	205983693	G	A	205983693	2	1	22	1	0	0	0	0	0	0	0	1	11491	962	34	2		2	PARD3B	2	205983693	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1246230	205983693	37215680	3257	5403											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000462231.1_Missense_Mutation_p.A724V|PARD3B_ENST00000358768.2_Missense_Mutation_p.A662V|PARD3B_ENST00000351153.1_Missense_Mutation_p.A724V|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													107	310					0	0	1	0	0	T	206110532	C	T	206110532	3	4	22	1	0	0	0	0	1	0	0	0	11491	797	28	2	2233	2	PARD3B	2	206110532	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126839	206110532	37088841	3258	5404											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000462231.1_Missense_Mutation_p.A753V|PARD3B_ENST00000358768.2_Missense_Mutation_p.A691V|PARD3B_ENST00000351153.1_Intron|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													121	616					0	0	1	0	0	T	206165326	C	T	206165326	3	4	22	1	0	0	0	0	1	0	0	0	11491	710	25	2	2324	2	PARD3B	2	206165326	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54794	206165326	37034047	3259	5405											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000462231.1_Silent_p.G873G|PARD3B_ENST00000358768.2_Silent_p.G811G|PARD3B_ENST00000351153.1_Silent_p.G804G|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													50	218					0	0	1	0	0	T	206166414	C	T	206166414	2	4	22	1	0	0	0	0	0	0	0	1	11491	755	27	1		1	PARD3B	2	206166414	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1088	206166414	37032959	3260	5406											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417189.1_Missense_Mutation_p.R287W|NRP2_ENST00000540841.1_Missense_Mutation_p.R287W|NRP2_ENST00000357785.5_Missense_Mutation_p.R287W|NRP2_ENST00000355117.4_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_ENST00000540178.1_Missense_Mutation_p.R287W	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|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													25	301					0	0	1	0	0	T	206590675	C	T	206590675	3	4	22	1	0	0	0	0	1	0	0	0	10709	643	23	1	881	1	NRP2	2	206590675	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	424261	206590675	36608698	3261	5407											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417189.1_Silent_p.T340T|NRP2_ENST00000540841.1_Silent_p.T340T|NRP2_ENST00000357785.5_Silent_p.T340T|NRP2_ENST00000355117.4_Silent_p.T340T|NRP2_ENST00000272849.3_Silent_p.T340T|NRP2_ENST00000412873.2_Silent_p.T340T|NRP2_ENST00000357118.4_Silent_p.T340T|NRP2_ENST00000540178.1_Silent_p.T340T	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|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													36	119					0	0	1	0	0	A	206592644	G	A	206592644	2	1	22	1	0	0	0	0	0	0	0	1	10709	1103	39	1		1	NRP2	2	206592644	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1969	206592644	36606729	3262	5408											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417189.1_Missense_Mutation_p.R466C|NRP2_ENST00000540841.1_Missense_Mutation_p.R466C|NRP2_ENST00000357785.5_Missense_Mutation_p.R466C|NRP2_ENST00000355117.4_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_ENST00000540178.1_Missense_Mutation_p.R466C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|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													283	864					0	0	1	0	0	T	206608031	C	T	206608031	3	4	22	1	0	0	0	0	1	0	0	0	10709	652	23	1	1430	1	NRP2	2	206608031	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15387	206608031	36591342	3263	5409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357785.5_Intron|NRP2_ENST00000272849.3_Missense_Mutation_p.D872N|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000540178.1_Intron	NM_201267.1	NP_957719.1	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)	154	727					0	0	1	0	0	A	206641143	G	A	206641143	3	1	22	1	0	0	0	0	1	0	0	0	10709	1058	37	1	2703	1	NRP2	2	206641143	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33112	206641143	36558230	3264	5410											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357785.5_Splice_Site|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000540178.1_Splice_Site	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|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													10	452					0	0	1	0	0	A	206657010	G	A	206657010	5	1	22	1	0	0	0	0	0	0	1	0	10709	1275	44	2	2866	2	NRP2	2	206657010	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15867	206657010	36542363	3265	5411											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357785.5_Missense_Mutation_p.S842Y|NRP2_ENST00000412873.2_Missense_Mutation_p.S825Y|NRP2_ENST00000540178.1_Missense_Mutation_p.S842Y	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|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													113	500					1.07149e-41	1.30274e-41	1	1	0	A	206659526	C	A	206659526	3	1	22	1	0	0	0	0	1	0	0	0	10709	913	32	2	2918	2	NRP2	2	206659526	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2516	206659526	36539847	3266	5412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357785.5_Missense_Mutation_p.C878Y|NRP2_ENST00000412873.2_Missense_Mutation_p.C861Y|NRP2_ENST00000540178.1_Missense_Mutation_p.C878Y	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|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													96	488					0	0	1	0	0	A	206659634	G	A	206659634	3	1	22	1	0	0	0	0	1	0	0	0	10709	1377	48	2	3026	2	NRP2	2	206659634	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108	206659634	36539739	3267	5413											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	987					0	0	1	0	0	A	206869669	G	A	206869669	3	1	22	1	0	0	0	0	1	0	0	0	7793	1116	39	1	580	1	INO80D	2	206869669	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	210035	206869669	36329704	3268	5414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	241					0	0	1	0	0	A	206870181	G	A	206870181	2	1	22	1	0	0	0	0	0	0	0	1	7793	1045	37	1		1	INO80D	2	206870181	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	512	206870181	36329192	3269	5415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207012502T>C	ENST00000233190.5	-	6	661	c.395A>G	c.(394-396)gAc>gGc	p.D132G	NDUFS1_ENST00000440274.1_Missense_Mutation_p.D96G|NDUFS1_ENST00000455934.2_Missense_Mutation_p.D146G|NDUFS1_ENST00000432169.1_Missense_Mutation_p.D21G|NDUFS1_ENST00000449699.1_Missense_Mutation_p.D132G|NDUFS1_ENST00000423725.1_Missense_Mutation_p.D75G|NDUFS1_ENST00000457011.1_Missense_Mutation_p.D16G	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	132					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													156	407					0	0	1	0	0	C	207012502	T	C	207012502	3	2	22	1	0	0	0	0	1	0	0	0	10338	1667	58	3	1844	3	NDUFS1	2	207012502	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	142321	207012502	36186871	3270	5416											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	118					0	0	1	0	0	A	207169653	G	A	207169653	3	1	22	1	0	0	0	0	1	0	0	0	17657	1058	37	1	411	1	ZDBF2	2	207169653	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157151	207169653	36029720	3271	5417											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	235					0	0	1	0	0	T	207170780	C	T	207170780	4	4	22	1	0	0	0	0	0	1	0	0	17657	595	21	2	1538	2	ZDBF2	2	207170780	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1127	207170780	36028593	3272	5418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	144					4.7796e-09	5.01584e-09	1	1	0	T	207172649	G	T	207172649	3	4	22	1	0	0	0	0	1	0	0	0	17657	1029	36	2	3407	2	ZDBF2	2	207172649	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1869	207172649	36026724	3273	5419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	320					0	0	1	0	0	A	207172773	G	A	207172773	3	1	22	1	0	0	0	0	1	0	0	0	17657	1058	37	1	3531	1	ZDBF2	2	207172773	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124	207172773	36026600	3274	5420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	76					0	0	1	0	0	A	207175371	G	A	207175371	3	1	22	1	0	0	0	0	1	0	0	0	17657	1116	39	1	6129	1	ZDBF2	2	207175371	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2598	207175371	36024002	3275	5421											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	202					0	0	1	0	0	A	207424741	G	A	207424741	2	1	22	1	0	0	0	0	0	0	0	1	244	991	35	2		2	ADAM23	2	207424741	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249370	207424741	35774632	3276	5422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000454776.2_Missense_Mutation_p.S503G|MDH1B_ENST00000449792.1_Missense_Mutation_p.S406G	NM_001039845.1	NP_001034934.1	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													29	186					0	0	1	0	0	C	207604335	T	C	207604335	3	2	22	1	0	0	0	0	1	0	0	0	9459	1551	54	3	54	3	MDH1B	2	207604335	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	179594	207604335	35595038	3277	5423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000454776.2_Silent_p.G154G|MDH1B_ENST00000449792.1_Silent_p.G56G|MDH1B_ENST00000392214.2_Intron	NM_001039845.1	NP_001034934.1	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													43	286					0	0	1	0	0	A	207620181	G	A	207620181	2	1	22	1	0	0	0	0	0	0	0	1	9459	1074	38	1		1	MDH1B	2	207620181	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15846	207620181	35579192	3278	5424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	140					2.37509e-13	2.56396e-13	1	1	0	T	207631704	G	T	207631704	3	4	22	1	0	0	0	0	1	0	0	0	5719	971	34	2	289	2	FASTKD2	2	207631704	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11523	207631704	35567669	3279	5425											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	168					0	0	1	0	0	T	207631743	C	T	207631743	3	4	22	1	0	0	0	0	1	0	0	0	5719	797	28	2	328	2	FASTKD2	2	207631743	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39	207631743	35567630	3280	5426											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	307					0	0	1	0	0	A	207636969	G	A	207636969	2	1	22	1	0	0	0	0	0	0	0	1	5719	1020	36	2		2	FASTKD2	2	207636969	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5226	207636969	35562404	3281	5427											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	628					0	0	1	0	0	T	207655375	C	T	207655375	3	4	22	1	0	0	0	0	1	0	0	0	5719	759	27	1	2016	1	FASTKD2	2	207655375	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18406	207655375	35543998	3282	5428											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	982					0	0	1	0	0	T	207823081	C	T	207823081	2	4	22	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	3283	5429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	279					0	0	1	0	0	T	207824388	C	T	207824388	3	4	22	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	3284	5430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	271					0	0	1	0	0	C	207824432	T	C	207824432	2	2	22	1	0	0	0	0	0	0	0	1	3843	1741	61	3		3	CPO	2	207824432	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44	207824432	35374941	3285	5431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	115					0	0	1	0	0	T	208589556	C	T	208589556	3	4	22	1	0	0	0	0	1	0	0	0	2959	855	30	2	259	2	CCNYL1	2	208589556	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	765124	208589556	34609817	3286	5432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	621					9.31168e-06	9.55451e-06	1	1	0	T	208725853	G	T	208725853	3	4	22	1	0	0	0	0	1	0	0	0	12130	1000	35	2	209	2	PLEKHM3	2	208725853	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136297	208725853	34473520	3287	5433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													156	500					0	0	1	0	0	T	208811193	C	T	208811193	2	4	22	1	0	0	0	0	0	0	0	1	12130	465	17	2		2	PLEKHM3	2	208811193	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85340	208811193	34388180	3288	5434											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	244					5.18039e-06	5.32547e-06	1	1	0	T	208841720	G	T	208841720	3	4	22	1	0	0	0	0	1	0	0	0	12130	1174	41	2	1108	2	PLEKHM3	2	208841720	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30527	208841720	34357653	3289	5435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	492					0	0	1	0	0	T	208986578	C	T	208986578	3	4	22	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	3290	5436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													194	506					0	0	1	0	0	A	208994239	G	A	208994239	4	1	22	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	3291	5437											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:209010739A>G	ENST00000260988.4	-	2	58	c.9_splice	c.e2-1	p.I4_splice		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													109	320					0	0	1	0	0	G	209010739	A	G	209010739	5	3	22	1	0	0	0	0	0	0	1	0	3938	347	12	3	524	3	CRYGB	2	209010739	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16500	209010739	34188634	3292	5438											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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								99	278					0	0	1	0	0	A	209113362	G	A	209113362	3	1	22	1	0	0	0	0	1	0	0	0	7538	1058	37	1	1127	1	IDH1	2	209113362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102623	209113362	34086011	3293	5439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	276					1.76689e-08	1.84553e-08	1	1	0	T	209180055	G	T	209180055	3	4	22	1	0	0	0	0	1	0	0	0	11972	991	35	2	2030	2	PIKFYVE	2	209180055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66693	209180055	34019318	3294	5440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.P845L|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_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													10	537					0	0	1	0	0	T	210559440	C	T	210559440	3	4	22	1	0	0	0	0	1	0	0	0	9285	652	23	1	2560	1	MAP2	2	210559440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1379385	210559440	32639933	3295	5441											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.A973V|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_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													87	371					0	0	1	0	0	T	210559824	C	T	210559824	3	4	22	1	0	0	0	0	1	0	0	0	9285	739	26	2	2944	2	MAP2	2	210559824	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	384	210559824	32639549	3296	5442											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540255.1_Missense_Mutation_p.R109Q|RPE_ENST00000411934.2_Missense_Mutation_p.R41Q|RPE_ENST00000429921.1_Missense_Mutation_p.R41Q|RPE_ENST00000445268.1_Missense_Mutation_p.R41Q|RPE_ENST00000454822.1_Missense_Mutation_p.R41Q|RPE_ENST00000436630.2_Missense_Mutation_p.R41Q|RPE_ENST00000452025.1_Missense_Mutation_p.R109Q|RPE_ENST00000354506.6_Missense_Mutation_p.R83Q|RPE_ENST00000435437.2_Missense_Mutation_p.R109Q|RPE_ENST00000429907.1_Missense_Mutation_p.R41Q|RPE_ENST00000438204.2_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													78	216					0	0	1	0	0	A	210880820	G	A	210880820	3	1	22	1	0	0	0	0	1	0	0	0	13596	1116	39	1	336	1	RPE	2	210880820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	320996	210880820	32318553	3297	5443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540255.1_Intron|RPE_ENST00000411934.2_Missense_Mutation_p.W94L|RPE_ENST00000429921.1_Missense_Mutation_p.W112L|RPE_ENST00000445268.1_Missense_Mutation_p.W94L|RPE_ENST00000454822.1_Missense_Mutation_p.W112L|RPE_ENST00000436630.2_Missense_Mutation_p.W112L|RPE_ENST00000452025.1_Missense_Mutation_p.W162L|RPE_ENST00000354506.6_Missense_Mutation_p.W154L|RPE_ENST00000435437.2_Missense_Mutation_p.W162L|RPE_ENST00000429907.1_Missense_Mutation_p.W94L|RPE_ENST00000438204.2_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													70	286					3.89499e-28	4.52561e-28	1	1	0	T	210882204	G	T	210882204	3	4	22	1	0	0	0	0	1	0	0	0	13596	1357	47	2	561	2	RPE	2	210882204	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1384	210882204	32317169	3298	5444											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													183	577					0	0	1	0	0	A	211074960	G	A	211074960	3	1	22	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	3299	5445											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211319832G>A	ENST00000443314.1	-	3	748	c.407_splice	c.e3+1	p.R136_splice	LANCL1_ENST00000431941.2_Splice_Site_p.R136_splice|AC007970.1_ENST00000433296.1_RNA|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000233714.4_Splice_Site_p.R136_splice|LANCL1_ENST00000450366.2_Splice_Site_p.R136_splice|LANCL1_ENST00000441020.3_Splice_Site_p.R136_splice			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													89	293					0	0	1	0	0	A	211319832	G	A	211319832	5	1	22	1	0	0	0	0	0	0	1	0	8659	1159	40	1	821	1	LANCL1	2	211319832	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	244872	211319832	31879541	3300	5446											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													308	1041					0	0	1	0	0	A	211454881	G	A	211454881	3	1	22	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	3301	5447											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000430249.2_Missense_Mutation_p.I864N|CPS1_ENST00000451903.2_Missense_Mutation_p.I407N	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													86	469					0	0	1	0	0	A	211481151	T	A	211481151	3	1	22	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	3302	5448											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000430249.2_Nonsense_Mutation_p.S924*|CPS1_ENST00000451903.2_Nonsense_Mutation_p.S467*	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													83	337					5.71386e-39	6.9007e-39	1	1	0	A	211502491	C	A	211502491	4	1	22	1	0	0	0	0	0	1	0	0	3846	838	29	2	2861	2	CPS1	2	211502491	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21340	211502491	31696882	3303	5449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000430249.2_Missense_Mutation_p.S1222N|CPS1_ENST00000451903.2_Missense_Mutation_p.S765N	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													81	228					0	0	1	0	0	A	211521337	G	A	211521337	3	1	22	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	3304	5450											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211533008G>A	ENST00000233072.5	+	34	4297	c.4101_splice	c.e34+1	p.Q1367_splice	CPS1_ENST00000430249.2_Splice_Site_p.Q1373_splice|CPS1_ENST00000451903.2_Splice_Site_p.Q916_splice	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													95	248					0	0	1	0	0	A	211533008	G	A	211533008	5	1	22	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	3305	5451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436443.1_Nonsense_Mutation_p.E1128*|ERBB4_ENST00000402597.1_Nonsense_Mutation_p.E1134*	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)			39	458					2.26627e-22	2.56399e-22	1	1	0	A	212251629	C	A	212251629	4	1	22	1	0	0	0	0	0	1	0	0	5237	922	32	2	504	2	ERBB4	2	212251629	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	718621	212251629	30947744	3306	5452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436443.1_Missense_Mutation_p.N1044D|ERBB4_ENST00000402597.1_Missense_Mutation_p.N1034D	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)			36	114					0	0	1	0	0	C	212285171	T	C	212285171	3	2	22	1	0	0	0	0	1	0	0	0	5237	1783	62	3	812	3	ERBB4	2	212285171	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33542	212285171	30914202	3307	5453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436443.1_Silent_p.D1009D|ERBB4_ENST00000402597.1_Silent_p.D999D	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)			59	182					0	0	1	0	0	G	212285274	A	G	212285274	2	3	22	1	0	0	0	0	0	0	0	1	5237	214	8	3		3	ERBB4	2	212285274	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	103	212285274	30914099	3308	5454											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436443.1_Silent_p.D991D|ERBB4_ENST00000402597.1_Silent_p.D981D	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)			72	193					0	0	1	0	0	G	212285328	A	G	212285328	2	3	22	1	0	0	0	0	0	0	0	1	5237	330	12	3		3	ERBB4	2	212285328	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	54	212285328	30914045	3309	5455											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436443.1_Missense_Mutation_p.P697S|ERBB4_ENST00000402597.1_Missense_Mutation_p.P687S	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)			60	277					0	0	1	0	0	A	212488760	G	A	212488760	3	1	22	1	0	0	0	0	1	0	0	0	5237	1261	44	2	1881	2	ERBB4	2	212488760	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203432	212488760	30710613	3310	5456											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436443.1_Missense_Mutation_p.A672D|ERBB4_ENST00000402597.1_Missense_Mutation_p.A662D	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)			113	367					9.42799e-54	1.17567e-53	1	1	0	T	212495251	G	T	212495251	3	4	22	1	0	0	0	0	1	0	0	0	5237	971	34	2	1959	2	ERBB4	2	212495251	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6491	212495251	30704122	3311	5457											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436443.1_Missense_Mutation_p.R196C|ERBB4_ENST00000402597.1_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)			53	249					0	0	1	0	0	A	212615400	G	A	212615400	3	1	22	1	0	0	0	0	1	0	0	0	5237	1116	39	1	3436	1	ERBB4	2	212615400	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120149	212615400	30583973	3312	5458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000421754.2_Silent_p.I383I|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000434687.1_Silent_p.I457I|IKZF2_ENST00000451136.2_Silent_p.I385I|IKZF2_ENST00000374319.4_Silent_p.I431I|IKZF2_ENST00000342002.2_Silent_p.I463I|IKZF2_ENST00000374327.4_Silent_p.I312I	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													230	670					1.32126e-99	1.6992e-99	1	1	0	T	213872294	G	T	213872294	2	4	22	1	0	0	0	0	0	0	0	1	7659	932	33	2		2	IKZF2	2	213872294	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1256894	213872294	29327079	3313	5459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:213878658A>G	ENST00000457361.1	-	7	881	c.712_splice	c.e7-1	p.V238_splice	IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000434687.1_Splice_Site_p.V238_splice|IKZF2_ENST00000451136.2_Splice_Site_p.V166_splice|IKZF2_ENST00000374319.4_Splice_Site_p.V212_splice|IKZF2_ENST00000342002.2_Splice_Site_p.V244_splice|IKZF2_ENST00000374327.4_Splice_Site_p.V93_splice	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													59	324					0	0	1	0	0	G	213878658	A	G	213878658	5	3	22	1	0	0	0	0	0	0	1	0	7659	405	14	3	875	3	IKZF2	2	213878658	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6364	213878658	29320715	3314	5460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:213921823G>A	ENST00000457361.1	-	4	308	c.139_splice	c.e4-1	p.T47_splice	IKZF2_ENST00000421754.2_Splice_Site_p.T47_splice|IKZF2_ENST00000413091.3_Splice_Site_p.T47_splice|IKZF2_ENST00000434687.1_Splice_Site_p.T47_splice|IKZF2_ENST00000451136.2_Splice_Site_p.T47_splice|IKZF2_ENST00000374319.4_Splice_Site_p.T47_splice|IKZF2_ENST00000342002.2_Splice_Site_p.T53_splice|IKZF2_ENST00000374327.4_Intron	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													6	230					0	0	1	0	0	A	213921823	G	A	213921823	5	1	22	1	0	0	0	0	0	0	1	0	7659	1333	46	2	1460	2	IKZF2	2	213921823	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43165	213921823	29277550	3315	5461											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	192					0	0	1	0	0	C	214354799	A	C	214354799	3	2	22	1	0	0	0	0	1	0	0	0	15034	246	9	3	1109	3	SPAG16	2	214354799	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	432976	214354799	28844574	3316	5462											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	NP_000456.2	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				141	703					6.6411e-63	8.37479e-63	1	1	0	T	215610503	G	T	215610503	3	4	22	1	0	0	0	0	1	0	0	0	1310	971	34	2	596	2	BARD1	2	215610503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1255704	215610503	27588870	3317	5463											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449967.2_Missense_Mutation_p.A54V|BARD1_ENST00000471787.1_5'UTR	NM_000465.2	NP_000456.2	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				60	359					0	0	1	0	0	A	215646005	G	A	215646005	3	1	22	1	0	0	0	0	1	0	0	0	1310	971	34	2	1772	2	BARD1	2	215646005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35502	215646005	27553368	3318	5464											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	423					2.39556e-15	2.61601e-15	1	1	0	A	215815605	C	A	215815605	4	1	22	1	0	0	0	0	0	1	0	0	30	922	32	2	973	2	ABCA12	2	215815605	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169600	215815605	27383768	3319	5465											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													133	738					0	0	1	0	0	T	215815716	C	T	215815716	3	4	22	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	3320	5466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	279					0	0	1	0	0	G	215820074	A	G	215820074	3	3	22	1	0	0	0	0	1	0	0	0	30	14	1	3	1586	3	ABCA12	2	215820074	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4358	215820074	27379299	3321	5467											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	245					6.08268e-21	6.83416e-21	1	1	0	A	215838750	C	A	215838750	3	1	22	1	0	0	0	0	1	0	0	0	30	913	32	2	2374	2	ABCA12	2	215838750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18676	215838750	27360623	3322	5468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	311					0	0	1	0	0	T	215845305	C	T	215845305	3	4	22	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	3323	5469											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	450					0	0	1	0	0	G	215847042	A	G	215847042	3	3	22	1	0	0	0	0	1	0	0	0	30	217	8	3	3435	3	ABCA12	2	215847042	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1737	215847042	27352331	3324	5470											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	268					0	0	1	0	0	G	215862523	T	G	215862523	3	3	22	1	0	0	0	0	1	0	0	0	30	1580	55	3	4721	3	ABCA12	2	215862523	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15481	215862523	27336850	3325	5471											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	579					0	0	1	0	0	T	215876354	C	T	215876354	3	4	22	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	3326	5472											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	485					1.79992e-35	2.14945e-35	1	1	0	A	215928871	C	A	215928871	3	1	22	1	0	0	0	0	1	0	0	0	30	913	32	2	7787	2	ABCA12	2	215928871	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52517	215928871	27270502	3327	5473											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								13	797					0	0	1	0	0	C	216191624	T	C	216191624	3	2	22	1	0	0	0	0	1	0	0	0	1104	1464	51	3	637	3	ATIC	2	216191624	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	262753	216191624	27007749	3328	5474											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								182	437					0	0	1	0	0	G	216211553	T	G	216211553	4	3	22	1	0	0	0	0	0	1	0	0	1104	1500	52	3	1446	3	ATIC	2	216211553	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19929	216211553	26987820	3329	5475											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000432072.2_Missense_Mutation_p.G1933D|FN1_ENST00000345488.5_Missense_Mutation_p.G1932D|FN1_ENST00000421182.1_Missense_Mutation_p.G1842D|FN1_ENST00000359671.1_Missense_Mutation_p.G1932D|FN1_ENST00000357867.4_Missense_Mutation_p.G1842D|FN1_ENST00000446046.1_Missense_Mutation_p.G1932D|FN1_ENST00000346544.3_Missense_Mutation_p.G1932D|FN1_ENST00000443816.1_Missense_Mutation_p.G1842D|FN1_ENST00000336916.4_Missense_Mutation_p.G1932D|FN1_ENST00000323926.6_Missense_Mutation_p.G2023D|FN1_ENST00000357009.2_Missense_Mutation_p.G1932D|FN1_ENST00000356005.4_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													20	382					0	0	1	0	0	T	216240026	C	T	216240026	3	4	22	1	0	0	0	0	1	0	0	0	5995	739	26	2	1401	2	FN1	2	216240026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28473	216240026	26959347	3330	5476											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000432072.2_Silent_p.Y1573Y|FN1_ENST00000345488.5_Silent_p.Y1482Y|FN1_ENST00000421182.1_Silent_p.Y1482Y|FN1_ENST00000359671.1_Silent_p.Y1482Y|FN1_ENST00000357867.4_Silent_p.Y1482Y|FN1_ENST00000446046.1_Silent_p.Y1482Y|FN1_ENST00000346544.3_Silent_p.Y1482Y|FN1_ENST00000443816.1_Silent_p.Y1482Y|FN1_ENST00000336916.4_Silent_p.Y1482Y|FN1_ENST00000323926.6_Silent_p.Y1573Y|FN1_ENST00000357009.2_Silent_p.Y1482Y|FN1_ENST00000356005.4_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													40	242					0	0	1	0	0	A	216249593	G	A	216249593	2	1	22	1	0	0	0	0	0	0	0	1	5995	1140	40	1		1	FN1	2	216249593	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9567	216249593	26949780	3331	5477											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000432072.2_Silent_p.E1526E|FN1_ENST00000345488.5_Silent_p.E1435E|FN1_ENST00000421182.1_Silent_p.E1435E|FN1_ENST00000359671.1_Silent_p.E1435E|FN1_ENST00000357867.4_Silent_p.E1435E|FN1_ENST00000446046.1_Silent_p.E1435E|FN1_ENST00000346544.3_Silent_p.E1435E|FN1_ENST00000443816.1_Silent_p.E1435E|FN1_ENST00000336916.4_Silent_p.E1435E|FN1_ENST00000323926.6_Silent_p.E1526E|FN1_ENST00000357009.2_Silent_p.E1435E|FN1_ENST00000356005.4_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													16	244					0	0	1	0	0	T	216251446	C	T	216251446	2	4	22	1	0	0	0	0	0	0	0	1	5995	680	24	2		2	FN1	2	216251446	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1853	216251446	26947927	3332	5478											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000432072.2_Missense_Mutation_p.D1280N|FN1_ENST00000345488.5_Intron|FN1_ENST00000421182.1_Intron|FN1_ENST00000359671.1_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000446046.1_Intron|FN1_ENST00000346544.3_Intron|FN1_ENST00000443816.1_Intron|FN1_ENST00000336916.4_Intron|FN1_ENST00000323926.6_Missense_Mutation_p.D1280N|FN1_ENST00000357009.2_Intron|FN1_ENST00000356005.4_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													45	287					0	0	1	0	0	T	216257885	C	T	216257885	3	4	22	1	0	0	0	0	1	0	0	0	5995	884	31	1	3683	1	FN1	2	216257885	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6439	216257885	26941488	3333	5479											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000432072.2_Nonsense_Mutation_p.G266*|FN1_ENST00000345488.5_Nonsense_Mutation_p.G266*|FN1_ENST00000421182.1_Nonsense_Mutation_p.G266*|FN1_ENST00000359671.1_Nonsense_Mutation_p.G266*|FN1_ENST00000357867.4_Nonsense_Mutation_p.G266*|FN1_ENST00000446046.1_Nonsense_Mutation_p.G266*|FN1_ENST00000346544.3_Nonsense_Mutation_p.G266*|FN1_ENST00000443816.1_Nonsense_Mutation_p.G266*|FN1_ENST00000336916.4_Nonsense_Mutation_p.G266*|FN1_ENST00000426059.1_Nonsense_Mutation_p.G266*|FN1_ENST00000323926.6_Nonsense_Mutation_p.G266*|FN1_ENST00000357009.2_Nonsense_Mutation_p.G266*|FN1_ENST00000356005.4_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													78	346					5.72124e-26	6.58255e-26	1	1	0	A	216292951	C	A	216292951	4	1	22	1	0	0	0	0	0	1	0	0	5995	690	24	2	6834	2	FN1	2	216292951	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35066	216292951	26906422	3334	5480											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					73	371					0	0	1	0	0	G	216977824	A	G	216977824	3	3	22	1	0	0	0	0	1	0	0	0	17516	72	3	3	113	3	XRCC5	2	216977824	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	684873	216977824	26221549	3335	5481											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					50	284					0	0	1	0	0	A	217002842	G	A	217002842	3	1	22	1	0	0	0	0	1	0	0	0	17516	1175	41	2	1328	2	XRCC5	2	217002842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25018	217002842	26196531	3336	5482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	79					5.26018e-13	5.6673e-13	1	1	0	T	217234861	G	T	217234861	2	4	22	1	0	0	0	0	0	0	0	1	9353	958	34	2		2	MARCH4	2	217234861	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	232019	217234861	25964512	3337	5483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				147	433					0	0	1	0	0	T	217279897	C	T	217279897	3	4	22	1	0	0	0	0	1	0	0	0	14827	478	17	2	472	2	SMARCAL1	2	217279897	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45036	217279897	25919476	3338	5484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				16	193					0	0	1	0	0	A	217285059	G	A	217285059	2	1	22	1	0	0	0	0	0	0	0	1	14827	962	34	2		2	SMARCAL1	2	217285059	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5162	217285059	25914314	3339	5485											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				50	170					0	0	1	0	0	T	217285073	C	T	217285073	3	4	22	1	0	0	0	0	1	0	0	0	14827	739	26	2	924	2	SMARCAL1	2	217285073	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14	217285073	25914300	3340	5486											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				88	258					0	0	1	0	0	T	217315692	C	T	217315692	3	4	22	1	0	0	0	0	1	0	0	0	14827	768	27	1	2013	1	SMARCAL1	2	217315692	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30619	217315692	25883681	3341	5487											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				6	26					0	0	1	0	0	T	217341855	C	T	217341855	2	4	22	1	0	0	0	0	0	0	0	1	14827	755	27	1		1	SMARCAL1	2	217341855	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26163	217341855	25857518	3342	5488											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000588.2	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													42	161					0	0	1	0	0	A	217526595	G	A	217526595	2	1	22	1	0	0	0	0	0	0	0	1	7623	991	35	2		2	IGFBP2	2	217526595	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	184740	217526595	25672778	3343	5489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	393					0	0	1	0	0	A	217543756	G	A	217543756	2	1	22	1	0	0	0	0	0	0	0	1	7626	1103	39	1		1	IGFBP5	2	217543756	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17161	217543756	25655617	3344	5490											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	37					2.74318e-10	2.90674e-10	1	1	0	T	217559274	G	T	217559274	2	4	22	1	0	0	0	0	0	0	0	1	7626	1219	43	2		2	IGFBP5	2	217559274	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15518	217559274	25640099	3345	5491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000430930.1_Missense_Mutation_p.A381V|TNS1_ENST00000419504.1_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													198	982					0	0	1	0	0	A	218713723	G	A	218713723	3	1	22	1	0	0	0	0	1	0	0	0	16403	971	34	2	4133	2	TNS1	2	218713723	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1154449	218713723	24485650	3346	5492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000430930.1_Missense_Mutation_p.G277R|TNS1_ENST00000419504.1_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													79	308					0	0	1	0	0	T	218749800	C	T	218749800	3	4	22	1	0	0	0	0	1	0	0	0	16403	623	22	2	4458	2	TNS1	2	218749800	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36077	218749800	24449573	3347	5493											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000430930.1_Missense_Mutation_p.S131I|TNS1_ENST00000419504.1_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													53	227					4.6707e-30	5.47058e-30	1	1	0	A	218757686	C	A	218757686	3	1	22	1	0	0	0	0	1	0	0	0	16403	797	28	2	4915	2	TNS1	2	218757686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7886	218757686	24441687	3348	5494											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	719					0	0	1	0	0	G	219000157	A	G	219000157	2	3	22	1	0	0	0	0	0	0	0	1	4114	388	14	3		3	CXCR2	2	219000157	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	242471	219000157	24199216	3349	5495											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													173	602					0	0	1	0	0	A	219029240	G	A	219029240	3	1	22	1	0	0	0	0	1	0	0	0	4113	1203	42	2	361	2	CXCR1	2	219029240	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29083	219029240	24170133	3350	5496											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	446					0	0	1	0	0	T	219029293	C	T	219029293	2	4	22	1	0	0	0	0	0	0	0	1	4113	755	27	1		1	CXCR1	2	219029293	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53	219029293	24170080	3351	5497											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	412					0	0	1	0	0	T	219099092	C	T	219099092	2	4	22	1	0	0	0	0	0	0	0	1	970	547	19	1		1	ARPC2	2	219099092	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69799	219099092	24100281	3352	5498											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_Missense_Mutation_p.Q112H	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													238	688					0	0	1	0	0	C	219103454	A	C	219103454	3	2	22	1	0	0	0	0	1	0	0	0	970	69	3	3	354	3	ARPC2	2	219103454	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4362	219103454	24095919	3353	5499											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	336					0	0	1	0	0	T	219295496	C	T	219295496	4	4	22	1	0	0	0	0	0	1	0	0	17224	711	25	2	1031	2	VIL1	2	219295496	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192042	219295496	23903877	3354	5500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000248444.5_Intron|VIL1_ENST00000392114.2_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													21	54					0	0	1	0	0	T	219295631	C	T	219295631	3	4	22	1	0	0	0	0	1	0	0	0	17224	754	26	2		2	VIL1	2	219295631	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135	219295631	23903742	3355	5501											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000454775.1_Nonsense_Mutation_p.W325*|USP37_ENST00000415516.1_Nonsense_Mutation_p.W253*|USP37_ENST00000418019.1_Nonsense_Mutation_p.W325*	NM_020935.2	NP_065986.2	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													44	491					0	0	1	0	0	T	219374752	C	T	219374752	4	4	22	1	0	0	0	0	0	1	0	0	17128	856	30	2	2028	2	USP37	2	219374752	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79121	219374752	23824621	3356	5502											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000432688.1_Missense_Mutation_p.D291N|PLCD4_ENST00000417849.1_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													10	626					0	0	1	0	0	A	219492850	G	A	219492850	3	1	22	1	0	0	0	0	1	0	0	0	12081	1174	41	2	893	2	PLCD4	2	219492850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118098	219492850	23706523	3357	5503											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000432688.1_Silent_p.L354L|PLCD4_ENST00000417849.1_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													14	166					0	0	1	0	0	A	219494329	G	A	219494329	2	1	22	1	0	0	0	0	0	0	0	1	12081	1277	45	2		2	PLCD4	2	219494329	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1479	219494329	23705044	3358	5504											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000432688.1_Silent_p.Q474Q|PLCD4_ENST00000417849.1_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													31	61					0	0	1	0	0	A	219497008	G	A	219497008	2	1	22	1	0	0	0	0	0	0	0	1	12081	933	33	2		2	PLCD4	2	219497008	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2679	219497008	23702365	3359	5505											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000432688.1_Missense_Mutation_p.R562H|PLCD4_ENST00000417849.1_Missense_Mutation_p.R530H	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													57	127					0	0	1	0	0	A	219498467	G	A	219498467	3	1	22	1	0	0	0	0	1	0	0	0	12081	1087	38	1	1627	1	PLCD4	2	219498467	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1459	219498467	23700906	3360	5506											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	310					0	0	1	0	0	T	219506771	C	T	219506771	3	4	22	1	0	0	0	0	1	0	0	0	17789	710	25	2	607	2	ZNF142	2	219506771	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8304	219506771	23692602	3361	5507											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	52	197					6.14515e-18	6.80267e-18	1	1	0	T	219513829	G	T	219513829	3	4	22	1	0	0	0	0	1	0	0	0	17789	991	35	2	4281	2	ZNF142	2	219513829	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7058	219513829	23685544	3362	5508											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359273.3_Silent_p.S71S|BCS1L_ENST00000392110.2_Silent_p.S71S|BCS1L_ENST00000392109.1_Silent_p.S71S|BCS1L_ENST00000392111.2_Silent_p.S71S|BCS1L_ENST00000412366.1_Silent_p.S71S|BCS1L_ENST00000439945.1_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													48	712					0	0	1	0	0	C	219525923	T	C	219525923	2	2	22	1	0	0	0	0	0	0	0	1	1387	1635	57	3		3	BCS1L	2	219525923	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12094	219525923	23673450	3363	5509											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359273.3_Missense_Mutation_p.S78N|BCS1L_ENST00000392110.2_Missense_Mutation_p.S78N|BCS1L_ENST00000392109.1_Missense_Mutation_p.S78N|BCS1L_ENST00000392111.2_Missense_Mutation_p.S78N|BCS1L_ENST00000412366.1_Missense_Mutation_p.S78N|BCS1L_ENST00000439945.1_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													50	777					0	0	1	0	0	A	219525943	G	A	219525943	3	1	22	1	0	0	0	0	1	0	0	0	1387	1029	36	2	235	2	BCS1L	2	219525943	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	219525943	23673430	3364	5510											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359273.3_Missense_Mutation_p.Y169H|BCS1L_ENST00000392110.2_Missense_Mutation_p.Y169H|BCS1L_ENST00000392109.1_Missense_Mutation_p.Y169H|BCS1L_ENST00000392111.2_Missense_Mutation_p.Y169H|BCS1L_ENST00000412366.1_Missense_Mutation_p.Y169H|BCS1L_ENST00000439945.1_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													38	170					0	0	1	0	0	C	219526526	T	C	219526526	3	2	22	1	0	0	0	0	1	0	0	0	1387	1638	57	3	515	3	BCS1L	2	219526526	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	583	219526526	23672847	3365	5511											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359273.3_Silent_p.L247L|BCS1L_ENST00000392110.2_Silent_p.L247L|BCS1L_ENST00000392109.1_Silent_p.L247L|BCS1L_ENST00000392111.2_Silent_p.L247L|BCS1L_ENST00000412366.1_Silent_p.L247L|BCS1L_ENST00000439945.1_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													55	384					0	0	1	0	0	T	219527252	C	T	219527252	2	4	22	1	0	0	0	0	0	0	0	1	1387	564	20	2		2	BCS1L	2	219527252	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	726	219527252	23672121	3366	5512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													302	723					4.81469e-126	6.20013e-126	1	1	0	T	219528785	G	T	219528785	2	4	22	1	0	0	0	0	0	0	0	1	13537	1190	42	2		2	RNF25	2	219528785	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1533	219528785	23670588	3367	5513											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	169					1.11015e-26	1.28132e-26	1	1	0	T	219538400	G	T	219538400	3	4	22	1	0	0	0	0	1	0	0	0	15358	1000	35	2	143	2	STK36	2	219538400	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9615	219538400	23660973	3368	5514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457313.1_Intron|TTLL4_ENST00000442769.1_Silent_p.Q7Q|TTLL4_ENST00000258398.4_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													45	291					0	0	1	0	0	A	219602420	G	A	219602420	2	1	22	1	0	0	0	0	0	0	0	1	16791	962	34	2		2	TTLL4	2	219602420	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64020	219602420	23596953	3369	5515											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457313.1_5'UTR|TTLL4_ENST00000442769.1_Missense_Mutation_p.S100N|TTLL4_ENST00000258398.4_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													178	489					0	0	1	0	0	A	219602698	G	A	219602698	3	1	22	1	0	0	0	0	1	0	0	0	16791	971	34	2	301	2	TTLL4	2	219602698	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278	219602698	23596675	3370	5516											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	330					0.0293803	0.0294705	1	1	0	A	219679736	C	A	219679736	3	1	22	1	0	0	0	0	1	0	0	0	4181	680	24	2	1613	2	CYP27A1	2	219679736	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77038	219679736	23519637	3371	5517											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392098.3_Missense_Mutation_p.A331T|PRKAG3_ENST00000545803.1_Missense_Mutation_p.R162H|PRKAG3_ENST00000529249.1_Missense_Mutation_p.R346H	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													27	955					0	0	1	0	0	T	219691782	C	T	219691782	3	4	22	1	0	0	0	0	1	0	0	0	12554	768	27	1	448	1	PRKAG3	2	219691782	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12046	219691782	23507591	3372	5518											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392098.3_Intron|PRKAG3_ENST00000545803.1_Missense_Mutation_p.T87I|PRKAG3_ENST00000529249.1_Missense_Mutation_p.T271I	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													30	204					0	0	1	0	0	A	219692564	G	A	219692564	3	1	22	1	0	0	0	0	1	0	0	0	12554	1261	44	2	685	2	PRKAG3	2	219692564	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	782	219692564	23506809	3373	5519											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	69					0	0	1	0	0	A	219738522	G	A	219738522	2	1	22	1	0	0	0	0	0	0	0	1	17453	1020	36	2		2	WNT6	2	219738522	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45958	219738522	23460851	3374	5520											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	127					0	0	1	0	0	C	219757865	T	C	219757865	3	2	22	1	0	0	0	0	1	0	0	0	17442	1696	59	3	1140	3	WNT10A	2	219757865	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19343	219757865	23441508	3375	5521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219870946C>A	ENST00000341552.5	-	31	4803		c.e31-1		AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Splice_Site|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													69	355					5.89852e-23	6.69324e-23	1	1	0	A	219870946	C	A	219870946	5	1	22	1	0	0	0	0	0	0	1	0	2761	927	32	2	1078	2	CCDC108	2	219870946	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113081	219870946	23328427	3376	5522											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.R1458H|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													40	177					0	0	1	0	0	T	219874743	C	T	219874743	3	4	22	1	0	0	0	0	1	0	0	0	2761	768	27	1	1440	1	CCDC108	2	219874743	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3797	219874743	23324630	3377	5523											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	160					0	0	1	0	0	T	219884315	C	T	219884315	3	4	22	1	0	0	0	0	1	0	0	0	2761	768	27	1	2455	1	CCDC108	2	219884315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9572	219884315	23315058	3378	5524											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000410037.1_Missense_Mutation_p.V407A|CCDC108_ENST00000409865.3_Missense_Mutation_p.V461A|CCDC108_ENST00000453220.1_Missense_Mutation_p.V472A|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)	13	510					0	0	1	0	0	G	219894360	A	G	219894360	3	3	22	1	0	0	0	0	1	0	0	0	2761	275	10	3	4462	3	CCDC108	2	219894360	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10045	219894360	23305013	3379	5525											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220033556C>A	ENST00000455516.2	-	5	564		c.e5-1		SLC23A3_ENST00000409878.3_Splice_Site|SLC23A3_ENST00000295738.7_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													6	157					0.0293803	0.0294705	1	1	0	A	220033556	C	A	220033556	5	1	22	1	0	0	0	0	0	0	1	0	14519	695	24	2	1372	2	SLC23A3	2	220033556	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139196	220033556	23165817	3380	5526											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	331					0	0	1	0	0	G	220075733	A	G	220075733	3	3	22	1	0	0	0	0	1	0	0	0	45	275	10	3	482	3	ABCB6	2	220075733	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	42177	220075733	23123640	3381	5527											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220077786G>A	ENST00000265316.3	-	13	2123	c.1805_splice	c.e13-1	p.R603_splice	ABCB6_ENST00000439002.2_Splice_Site_p.R557_splice	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													14	105					0	0	1	0	0	A	220077786	G	A	220077786	5	1	22	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	3382	5528											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396761.2_Silent_p.D398D|ATG9A_ENST00000361242.4_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													241	1061					0	0	1	0	0	A	220088899	G	A	220088899	2	1	22	1	0	0	0	0	0	0	0	1	1101	1136	40	1		1	ATG9A	2	220088899	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11113	220088899	23110474	3383	5529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	567					0	0	1	0	0	A	220100035	G	A	220100035	5	1	22	1	0	0	0	0	0	0	1	0	687	1043	36	2	1726	2	ANKZF1	2	220100035	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11136	220100035	23099338	3384	5530											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	358					0	0	1	0	0	T	220100257	C	T	220100257	4	4	22	1	0	0	0	0	0	1	0	0	687	644	23	1	1791	1	ANKZF1	2	220100257	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	222	220100257	23099116	3385	5531											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356283.3_Missense_Mutation_p.P442H|GLB1L_ENST00000409640.1_Missense_Mutation_p.P442H|GLB1L_ENST00000392089.2_Missense_Mutation_p.P532H|GLB1L_ENST00000497855.1_5'UTR			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													123	404					6.83383e-50	8.46023e-50	1	1	0	T	220102328	G	T	220102328	3	4	22	1	0	0	0	0	1	0	0	0	6470	1000	35	2	377	2	GLB1L	2	220102328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2071	220102328	23097045	3386	5532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356283.3_Missense_Mutation_p.A110D|GLB1L_ENST00000409640.1_Missense_Mutation_p.A110D|GLB1L_ENST00000392089.2_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													139	416					3.54119e-60	4.4507e-60	1	1	0	T	220107551	G	T	220107551	3	4	22	1	0	0	0	0	1	0	0	0	6470	971	34	2	1691	2	GLB1L	2	220107551	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5223	220107551	23091822	3387	5533											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000248437.4_Silent_p.Q301Q|TUBA4A_ENST00000498660.1_5'UTR	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													209	542					0	0	1	0	0	T	220115518	C	T	220115518	2	4	22	1	0	0	0	0	0	0	0	1	16811	912	32	2		2	TUBA4A	2	220115518	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7967	220115518	23083855	3388	5534											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000248437.4_Silent_p.Q85Q|TUBA4A_ENST00000498660.1_5'UTR	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													55	261					0	0	1	0	0	T	220116407	C	T	220116407	2	4	22	1	0	0	0	0	0	0	0	1	16811	796	28	2		2	TUBA4A	2	220116407	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	889	220116407	23082966	3389	5535											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409251.3_Missense_Mutation_p.G587R|PTPRN_ENST00000423636.2_Missense_Mutation_p.G526R	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													32	112					0	0	1	0	0	T	220162648	C	T	220162648	3	4	22	1	0	0	0	0	1	0	0	0	12859	623	22	2	1137	2	PTPRN	2	220162648	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46241	220162648	23036725	3390	5536											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409251.3_Missense_Mutation_p.A566D|PTPRN_ENST00000423636.2_Missense_Mutation_p.A505D	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													72	238					7.1157e-29	8.29994e-29	1	1	0	T	220162710	G	T	220162710	3	4	22	1	0	0	0	0	1	0	0	0	12859	971	34	2	1199	2	PTPRN	2	220162710	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62	220162710	23036663	3391	5537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409251.3_Silent_p.L552L|PTPRN_ENST00000423636.2_Silent_p.L491L	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													93	327					0	0	1	0	0	A	220162753	G	A	220162753	2	1	22	1	0	0	0	0	0	0	0	1	12859	933	33	2		2	PTPRN	2	220162753	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43	220162753	23036620	3392	5538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409251.3_Missense_Mutation_p.P267L|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.P177L	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													31	149					0	0	1	0	0	A	220167053	G	A	220167053	3	1	22	1	0	0	0	0	1	0	0	0	12859	1000	35	2	2211	2	PTPRN	2	220167053	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4300	220167053	23032320	3393	5539											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	311					0	0	1	0	0	A	220286186	G	A	220286186	3	1	22	1	0	0	0	0	1	0	0	0	4477	1087	38	1	1170	1	DES	2	220286186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119133	220286186	22913187	3394	5540											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	199					0	0	1	0	0	T	220336654	C	T	220336654	2	4	22	1	0	0	0	0	0	0	0	1	15092	767	27	1		1	SPEG	2	220336654	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50468	220336654	22862719	3395	5541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													165	898					2.82259e-58	3.53906e-58	1	1	0	T	220338459	G	T	220338459	2	4	22	1	0	0	0	0	0	0	0	1	15092	1219	43	2		2	SPEG	2	220338459	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1805	220338459	22860914	3396	5542											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	114					0	0	1	0	0	T	220347984	C	T	220347984	2	4	22	1	0	0	0	0	0	0	0	1	15092	668	24	2		2	SPEG	2	220347984	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9525	220347984	22851389	3397	5543											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	74					0	0	1	0	0	A	220348005	G	A	220348005	2	1	22	1	0	0	0	0	0	0	0	1	15092	962	34	2		2	SPEG	2	220348005	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	220348005	22851368	3398	5544											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	352					2.17888e-05	2.22852e-05	1	1	0	A	220355360	C	A	220355360	3	1	22	1	0	0	0	0	1	0	0	0	15092	797	28	2	9309	2	SPEG	2	220355360	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7355	220355360	22844013	3399	5545											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	293					0	0	1	0	0	T	220356957	C	T	220356957	4	4	22	1	0	0	0	0	0	1	0	0	15092	760	27	1	9756	1	SPEG	2	220356957	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1597	220356957	22842416	3400	5546											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373917.3_Missense_Mutation_p.R132C|GMPPA_ENST00000373908.1_Missense_Mutation_p.R132C|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Missense_Mutation_p.R132C|GMPPA_ENST00000313597.5_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													107	1144					0	0	1	0	0	T	220366724	C	T	220366724	3	4	22	1	0	0	0	0	1	0	0	0	6536	536	19	1	408	1	GMPPA	2	220366724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9767	220366724	22832649	3401	5547											
GMPPA	29926	broad.mit.edu	37	chr2	220367140	220367140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcaactacggctgcatcGttgagaatccacagacacac	7	15	1	2	rs138077680	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220367140G>A	ENST00000358215.3	+	6	835	c.466G>A	c.(466-468)Gtt>Att	p.V156I	GMPPA_ENST00000373917.3_Missense_Mutation_p.V156I|GMPPA_ENST00000373908.1_Missense_Mutation_p.V156I|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Missense_Mutation_p.V156I|GMPPA_ENST00000313597.5_Missense_Mutation_p.V156I	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	156			V -> A (in dbSNP:rs13396066).		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)		CGGCTGCATCGTTGAGAATCC	0.567													22	146					0	0	1	0	0	A	220367140	G	A	220367140	3	1	22	1	0	0	0	0	1	0	0	0	6536	1145	40	1	484	1	GMPPA	2	220367140	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	416	220367140	22832233	3402	5548											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373917.3_Missense_Mutation_p.S375R|GMPPA_ENST00000373908.1_Missense_Mutation_p.S322R|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Missense_Mutation_p.S322R|GMPPA_ENST00000313597.5_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													14	59					3.27435e-08	3.41456e-08	1	1	0	A	220370767	C	A	220370767	3	1	22	1	0	0	0	0	1	0	0	0	6536	709	25	2	1004	2	GMPPA	2	220370767	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3627	220370767	22828606	3403	5549											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_078812.2	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													68	846					2.81305e-35	3.35631e-35	1	1	0	T	220404532	G	T	220404532	3	4	22	1	0	0	0	0	1	0	0	0	3390	1174	41	2	430	2	CHPF	2	220404532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33765	220404532	22794841	3404	5550											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	424					0	0	1	0	0	A	220409581	G	A	220409581	3	1	22	1	0	0	0	0	1	0	0	0	16179	1377	48	2	134	2	TMEM198	2	220409581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5049	220409581	22789792	3405	5551											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													213	1114					0	0	1	0	0	A	220412347	G	A	220412347	3	1	22	1	0	0	0	0	1	0	0	0	16179	1087	38	1	292	1	TMEM198	2	220412347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2766	220412347	22787026	3406	5552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	559					0	0	1	0	0	A	220412405	G	A	220412405	3	1	22	1	0	0	0	0	1	0	0	0	16179	971	34	2	350	2	TMEM198	2	220412405	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58	220412405	22786968	3407	5553											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	212					0	0	1	0	0	A	220419272	G	A	220419272	2	1	22	1	0	0	0	0	0	0	0	1	10861	1190	42	2		2	OBSL1	2	220419272	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6867	220419272	22780101	3408	5554											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000603926.1_Silent_p.G1057G|OBSL1_ENST00000373876.1_Silent_p.G1057G|OBSL1_ENST00000265318.4_Silent_p.G1057G|OBSL1_ENST00000265317.5_Silent_p.G48G	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													132	679					0	0	1	0	0	A	220424002	G	A	220424002	2	1	22	1	0	0	0	0	0	0	0	1	10861	1074	38	1		1	OBSL1	2	220424002	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4730	220424002	22775371	3409	5555											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000603926.1_Missense_Mutation_p.Q703H|OBSL1_ENST00000373876.1_Missense_Mutation_p.Q703H|OBSL1_ENST00000373873.4_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													74	342					1.77355e-41	2.15486e-41	1	1	0	A	220431577	C	A	220431577	3	1	22	1	0	0	0	0	1	0	0	0	10861	680	24	2	3801	2	OBSL1	2	220431577	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7575	220431577	22767796	3410	5556											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	138					0	0	1	0	0	T	220473436	C	T	220473436	4	4	22	1	0	0	0	0	0	1	0	0	15344	760	27	1	1826	1	STK11IP	2	220473436	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41859	220473436	22725937	3411	5557											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	51					0	0	1	0	0	A	220473895	G	A	220473895	3	1	22	1	0	0	0	0	1	0	0	0	15344	1087	38	1	1981	1	STK11IP	2	220473895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	459	220473895	22725478	3412	5558											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	54					1.23904e-05	1.26975e-05	1	1	0	A	220479906	C	A	220479906	3	1	22	1	0	0	0	0	1	0	0	0	15344	913	32	2	3087	2	STK11IP	2	220479906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6011	220479906	22719467	3413	5559											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	81					0	0	1	0	0	A	220479972	G	A	220479972	3	1	22	1	0	0	0	0	1	0	0	0	15344	1145	40	1	3153	1	STK11IP	2	220479972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66	220479972	22719401	3414	5560											
SLC4A3	6508	broad.mit.edu	37	chr2	220496799	220496801	+	In_Frame_Del	DEL	GAA	GAA	-													ctggcccccatccttcgcagGaagaagaagaagaaaaagct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220496799_220496801delGAA	ENST00000358055.3	+	7	1433_1435	c.921_923delGAA	c.(919-924)agg>ag	p.RK307del	SLC4A3_ENST00000273063.6_In_Frame_Del_p.RK334del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del|SLC4A3_ENST00000317151.3_In_Frame_Del_p.RK307del|SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	307					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)		TCCTTCGCAGGAAGAAGAAGAAG	0.65													8	575	---	---	---	---						-	220496801	GAA	-	220496799	7	5	22	1	0	1	0	1	0	0	0	0	14710	1165	41	0	1024	0	SLC4A3	2	220496799	In_Frame_Del	DEL	GAA	TCGA-IB-7651-01A-11D-2154-08	16827	220496799	22702574	3415	5561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000497589.1_3'UTR|SLC4A3_ENST00000273063.6_Silent_p.L352L|SLC4A3_ENST00000317151.3_Silent_p.L325L|SLC4A3_ENST00000373760.2_Silent_p.L325L|SLC4A3_ENST00000373762.3_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													52	212					0	0	1	0	0	T	220496996	C	T	220496996	2	4	22	1	0	0	0	0	0	0	0	1	14710	796	28	2		2	SLC4A3	2	220496996	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	197	220496996	22702377	3416	5562											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000273063.6_Missense_Mutation_p.R441K|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R414K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R414K|SLC4A3_ENST00000373762.3_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													40	228					0	0	1	0	0	A	220497695	G	A	220497695	3	1	22	1	0	0	0	0	1	0	0	0	14710	1000	35	2	1352	2	SLC4A3	2	220497695	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	699	220497695	22701678	3417	5563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000273063.6_Missense_Mutation_p.I1037S|SLC4A3_ENST00000317151.3_Missense_Mutation_p.I1010S|SLC4A3_ENST00000373760.2_Missense_Mutation_p.I1010S|SLC4A3_ENST00000373762.3_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													83	458					0	0	1	0	0	G	220504209	T	G	220504209	3	3	22	1	0	0	0	0	1	0	0	0	14710	1435	50	3	3184	3	SLC4A3	2	220504209	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6514	220504209	22695164	3418	5564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392071.4_Missense_Mutation_p.R832H|EPHA4_ENST00000409938.1_Missense_Mutation_p.R883H	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													126	735					0	0	1	0	0	T	222294720	C	T	222294720	3	4	22	1	0	0	0	0	1	0	0	0	5197	768	27	1	324	1	EPHA4	2	222294720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1790511	222294720	20904653	3419	5565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392071.4_Missense_Mutation_p.D81G|EPHA4_ENST00000409938.1_Missense_Mutation_p.D132G	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													28	695					0	0	1	0	0	C	222428879	T	C	222428879	3	2	22	1	0	0	0	0	1	0	0	0	5197	1667	58	3	2625	3	EPHA4	2	222428879	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	134159	222428879	20770494	3420	5566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	316					0	0	1	0	0	A	223496342	G	A	223496342	3	1	22	1	0	0	0	0	1	0	0	0	5713	1145	40	1	1042	1	FARSB	2	223496342	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1067463	223496342	19703031	3421	5567											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								95	494					0	0	1	0	0	A	223773626	G	A	223773626	3	1	22	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	3422	5568											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.R232Q	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								67	218					0	0	1	0	0	A	223783810	G	A	223783810	3	1	22	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	3423	5569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								172	563					3.64303e-86	4.6696e-86	1	1	0	T	223786120	G	T	223786120	3	4	22	1	0	0	0	0	1	0	0	0	178	1348	47	2	946	2	ACSL3	2	223786120	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2310	223786120	19413253	3424	5570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000604125.1_Missense_Mutation_p.A112T|KCNE4_ENST00000488477.2_Intron			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													108	266					0	0	1	0	0	A	223917882	G	A	223917882	3	1	22	1	0	0	0	0	1	0	0	0	8069	1087	38	1	336	1	KCNE4	2	223917882	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131762	223917882	19281491	3425	5571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													151	761					0	0	1	0	0	A	224463355	G	A	224463355	3	1	22	1	0	0	0	0	1	0	0	0	13944	1145	40	1	1211	1	SCG2	2	224463355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	545473	224463355	18736018	3426	5572											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													146	690					0	0	1	0	0	A	224463404	T	A	224463404	3	1	22	1	0	0	0	0	1	0	0	0	13944	1490	52	5	1260	5	SCG2	2	224463404	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49	224463404	18735969	3427	5573											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447280.2_Missense_Mutation_p.D184Y|SERPINE2_ENST00000258405.4_Missense_Mutation_p.D172Y|SERPINE2_ENST00000409304.1_Missense_Mutation_p.D172Y			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													36	139					1.06647e-15	1.16694e-15	1	1	0	A	224856691	C	A	224856691	3	1	22	1	0	0	0	0	1	0	0	0	14166	913	32	2	706	2	SERPINE2	2	224856691	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	393287	224856691	18342682	3428	5574											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447280.2_Missense_Mutation_p.P28H|SERPINE2_ENST00000258405.4_Missense_Mutation_p.P16H|SERPINE2_ENST00000409304.1_Missense_Mutation_p.P16H			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													80	473					4.05715e-38	4.88277e-38	1	1	0	T	224866571	G	T	224866571	3	4	22	1	0	0	0	0	1	0	0	0	14166	1000	35	2	1181	2	SERPINE2	2	224866571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9880	224866571	18332802	3429	5575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	202					7.93312e-07	8.20014e-07	1	1	0	T	225266170	G	T	225266170	3	4	22	1	0	0	0	0	1	0	0	0	5457	962	34	2	1150	2	FAM124B	2	225266170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	399599	225266170	17933203	3430	5576											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409777.1_Missense_Mutation_p.D534G|CUL3_ENST00000344951.4_Missense_Mutation_p.D492G	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													85	322					0	0	1	0	0	C	225362504	T	C	225362504	3	2	22	1	0	0	0	0	1	0	0	0	4079	1435	50	3	653	3	CUL3	2	225362504	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96334	225362504	17836869	3431	5577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	173					0	0	1	0	0	C	225637950	A	C	225637950	3	2	22	1	0	0	0	0	1	0	0	0	4712	72	3	3	448	3	DOCK10	2	225637950	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	275446	225637950	17561423	3432	5578											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	150					0	0	1	0	0	A	225639794	G	A	225639794	2	1	22	1	0	0	0	0	0	0	0	1	4712	1164	41	2		2	DOCK10	2	225639794	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1844	225639794	17559579	3433	5579											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													152	429					0	0	1	0	0	A	225651780	G	A	225651780	3	1	22	1	0	0	0	0	1	0	0	0	4712	1086	38	1	974	1	DOCK10	2	225651780	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11986	225651780	17547593	3434	5580											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	542					0.0477658	0.0478703	1	1	0	A	225651821	C	A	225651821	3	1	22	1	0	0	0	0	1	0	0	0	4712	652	23	4	1015	4	DOCK10	2	225651821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41	225651821	17547552	3435	5581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227660982G>A	ENST00000305123.4	-	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	825					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													48	640					0	0	1	0	0	A	227660982	G	A	227660982	2	1	22	1	0	0	0	0	0	0	0	1	7884	962	34	2		2	IRS1	2	227660982	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2009161	227660982	15538391	3436	5582											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409053.1_Silent_p.L37L|RHBDD1_ENST00000341329.3_Silent_p.L203L	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													146	393					0	0	1	0	0	G	227771551	A	G	227771551	2	3	22	1	0	0	0	0	0	0	0	1	13366	349	13	3		3	RHBDD1	2	227771551	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	110569	227771551	15427822	3437	5583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	521					0	0	1	0	0	G	227945157	A	G	227945157	5	3	22	1	0	0	0	0	0	0	1	0	3716	405	14	3	3367	3	COL4A4	2	227945157	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	173606	227945157	15254216	3438	5584											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	313					1.96895e-08	2.05624e-08	1	1	0	A	227963476	C	A	227963476	4	1	22	1	0	0	0	0	0	1	0	0	3716	922	32	2	4054	2	COL4A4	2	227963476	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18319	227963476	15235897	3439	5585											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	107					3.41278e-10	3.61262e-10	1	1	0	A	227966227	C	A	227966227	3	1	22	1	0	0	0	0	1	0	0	0	3716	739	26	2	4178	2	COL4A4	2	227966227	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2751	227966227	15233146	3440	5586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	237					0	0	1	0	0	G	228004944	T	G	228004944	3	3	22	1	0	0	0	0	1	0	0	0	3716	1841	64	3	5127	3	COL4A4	2	228004944	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38717	228004944	15194429	3441	5587											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228118353_228118354insT	ENST00000396578.3	+	13	926_927	c.765_splice	c.e13+1	p.R255_splice	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_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)	255	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													7	779	---	---	---	---						T	228118354	-	T	228118353	8	5	22	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	3442	5588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_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													134	379					0	0	1	0	0	C	228145242	T	C	228145242	2	2	22	1	0	0	0	0	0	0	0	1	3714	1800	63	3		3	COL4A3	2	228145242	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26889	228145242	15054131	3443	5589											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_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													55	178					0	0	1	0	0	T	228158022	C	T	228158022	3	4	22	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	3444	5590											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000476924.1_Intron|MFF_ENST00000304593.9_Nonsense_Mutation_p.R20*|MFF_ENST00000337110.7_Nonsense_Mutation_p.R20*|MFF_ENST00000409616.1_Nonsense_Mutation_p.R20*|MFF_ENST00000409565.1_Nonsense_Mutation_p.R20*|MFF_ENST00000524634.1_Intron|MFF_ENST00000349901.7_Nonsense_Mutation_p.R20*|MFF_ENST00000354503.6_Nonsense_Mutation_p.R20*|MFF_ENST00000392059.1_Nonsense_Mutation_p.R46*	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													82	240					0	0	1	0	0	T	228195439	C	T	228195439	4	4	22	1	0	0	0	0	0	1	0	0	9569	760	27	1	142	1	MFF	2	228195439	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37417	228195439	15003934	3445	5591											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000476924.1_3'UTR|MFF_ENST00000304593.9_Silent_p.P84P|MFF_ENST00000337110.7_Silent_p.P84P|MFF_ENST00000409616.1_Silent_p.P84P|MFF_ENST00000409565.1_Silent_p.P84P|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000349901.7_Silent_p.P84P|MFF_ENST00000354503.6_Silent_p.P84P|MFF_ENST00000392059.1_Silent_p.P110P	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													382	1229					0	0	1	0	0	T	228197205	C	T	228197205	2	4	22	1	0	0	0	0	0	0	0	1	9569	610	22	2		2	MFF	2	228197205	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1766	228197205	15002168	3446	5592											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000476924.1_3'UTR|MFF_ENST00000304593.9_Silent_p.L141L|MFF_ENST00000337110.7_Silent_p.L141L|MFF_ENST00000409616.1_Silent_p.L141L|MFF_ENST00000409565.1_Silent_p.L141L|MFF_ENST00000524634.1_Silent_p.L12L|MFF_ENST00000349901.7_Silent_p.L141L|MFF_ENST00000354503.6_Silent_p.L141L|MFF_ENST00000392059.1_Silent_p.L167L	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													47	147					0	0	1	0	0	T	228205077	C	T	228205077	2	4	22	1	0	0	0	0	0	0	0	1	9569	796	28	2		2	MFF	2	228205077	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7872	228205077	14994296	3447	5593											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	192					0	0	1	0	0	G	228230946	T	G	228230946	2	3	22	1	0	0	0	0	0	0	0	1	16029	1683	59	3		3	TM4SF20	2	228230946	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25869	228230946	14968427	3448	5594											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228401620C>T	ENST00000310078.7	+	10	1549	c.1289C>T	c.(1288-1290)aCg>aTg	p.T430M	AGFG1_ENST00000373671.3_Missense_Mutation_p.T390M|AGFG1_ENST00000409171.1_Missense_Mutation_p.T430M|AGFG1_ENST00000409979.2_Missense_Mutation_p.T454M|AGFG1_ENST00000409315.1_Missense_Mutation_p.T409M	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	430					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													60	331					0	0	1	0	0	T	228401620	C	T	228401620	3	4	22	1	0	0	0	0	1	0	0	0	377	536	19	1	1403	1	AGFG1	2	228401620	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170674	228401620	14797753	3449	5595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	300					2.05175e-36	2.45602e-36	1	1	0	T	228846450	G	T	228846450	3	4	22	1	0	0	0	0	1	0	0	0	15104	971	34	2	20	2	SPHKAP	2	228846450	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	444830	228846450	14352923	3450	5596											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													213	573					0	0	1	0	0	A	228881170	T	A	228881170	3	1	22	1	0	0	0	0	1	0	0	0	15104	1435	50	5	726	5	SPHKAP	2	228881170	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34720	228881170	14318203	3451	5597											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	501					0	0	1	0	0	A	228881439	G	A	228881439	2	1	22	1	0	0	0	0	0	0	0	1	15104	1103	39	1		1	SPHKAP	2	228881439	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	269	228881439	14317934	3452	5598											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	382					0	0	1	0	0	A	228881731	G	A	228881731	3	1	22	1	0	0	0	0	1	0	0	0	15104	1087	38	1	1287	1	SPHKAP	2	228881731	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	292	228881731	14317642	3453	5599											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													179	872					0	0	1	0	0	A	228882946	G	A	228882946	3	1	22	1	0	0	0	0	1	0	0	0	15104	971	34	2	2502	2	SPHKAP	2	228882946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1215	228882946	14316427	3454	5600											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													216	543					0	0	1	0	0	A	228884503	G	A	228884503	3	1	22	1	0	0	0	0	1	0	0	0	15104	1319	46	2	4059	2	SPHKAP	2	228884503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1557	228884503	14314870	3455	5601											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	366					0	0	1	0	0	G	228996712	A	G	228996712	3	3	22	1	0	0	0	0	1	0	0	0	15104	333	12	3	5024	3	SPHKAP	2	228996712	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112209	228996712	14202661	3456	5602											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	221					0	0	1	0	0	T	230231694	C	T	230231694	3	4	22	1	0	0	0	0	1	0	0	0	4694	768	27	1	224	1	DNER	2	230231694	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1234982	230231694	12967679	3457	5603											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_004238.1	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													59	251					3.28615e-30	3.85197e-30	1	1	0	A	230636293	C	A	230636293	3	1	22	1	0	0	0	0	1	0	0	0	16617	913	32	2	469	2	TRIP12	2	230636293	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	404599	230636293	12563080	3458	5604											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389045.3_Missense_Mutation_p.S713I|TRIP12_ENST00000543084.1_Intron	NM_004238.1	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													84	206					8.87156e-34	1.0529e-33	1	1	0	A	230667001	C	A	230667001	3	1	22	1	0	0	0	0	1	0	0	0	16617	797	28	2	3118	2	TRIP12	2	230667001	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30708	230667001	12532372	3459	5605											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	149					0	0	1	0	0	T	230875544	C	T	230875544	3	4	22	1	0	0	0	0	1	0	0	0	5778	759	27	1	525	1	FBXO36	2	230875544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208543	230875544	12323829	3460	5606											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	521					0	0	1	0	0	A	230911293	G	A	230911293	2	1	22	1	0	0	0	0	0	0	0	1	14462	1079	38	1		1	SLC16A14	2	230911293	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35749	230911293	12288080	3461	5607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540870.1_Silent_p.S179S|SP110_ENST00000358662.4_Silent_p.S173S|SP110_ENST00000392048.3_Silent_p.S173S|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000258382.5_Silent_p.S173S|SP110_ENST00000486146.2_5'UTR	NM_080424.2	NP_536349.2	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													145	775					0	0	1	0	0	T	231077540	C	T	231077540	2	4	22	1	0	0	0	0	0	0	0	1	15015	755	27	1		1	SP110	2	231077540	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	166247	231077540	12121833	3462	5608											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000350136.5_Missense_Mutation_p.P589S|SP140_ENST00000417495.3_Missense_Mutation_p.P606S|SP140_ENST00000486687.2_Missense_Mutation_p.P644S|SP140_ENST00000420434.3_Missense_Mutation_p.P693S|SP140_ENST00000343805.6_Missense_Mutation_p.P660S	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													33	374					0	0	1	0	0	T	231174738	C	T	231174738	3	4	22	1	0	0	0	0	1	0	0	0	15016	739	26	2	2365	2	SP140	2	231174738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97198	231174738	12024635	3463	5609											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000458341.1_Missense_Mutation_p.P94L|SP140L_ENST00000396563.4_Missense_Mutation_p.P181L|SP140L_ENST00000444636.1_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													25	113					0	0	1	0	0	T	231235641	C	T	231235641	3	4	22	1	0	0	0	0	1	0	0	0	15017	652	23	1	564	1	SP140L	2	231235641	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60903	231235641	11963732	3464	5610											
SP140L	93349	broad.mit.edu	37	chr2	231256917	231256917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgagtgtgcgctgtggCgggtggcccctacgacggct	18	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231256917C>T	ENST00000243810.6	+	12	1080	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G	SP140L_ENST00000396563.4_Silent_p.G325G|SP140L_ENST00000444636.1_Silent_p.G360G|SP140L_ENST00000415673.2_Silent_p.G360G			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	360	SAND.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TGCGCTGTGGCGGGTGGCCCC	0.493													85	283					0	0	1	0	0	T	231256917	C	T	231256917	2	4	22	1	0	0	0	0	0	0	0	1	15017	755	27	1		1	SP140L	2	231256917	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21276	231256917	11942456	3465	5611											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396563.4_Missense_Mutation_p.G378R|SP140L_ENST00000444636.1_Missense_Mutation_p.G413R|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													103	403					0	0	1	0	0	A	231264881	G	A	231264881	3	1	22	1	0	0	0	0	1	0	0	0	15017	1000	35	2	1295	2	SP140L	2	231264881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7964	231264881	11934492	3466	5612											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396563.4_Missense_Mutation_p.S401G|SP140L_ENST00000444636.1_Missense_Mutation_p.S436G|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													57	242					0	0	1	0	0	G	231264950	A	G	231264950	3	3	22	1	0	0	0	0	1	0	0	0	15017	72	3	3	1364	3	SP140L	2	231264950	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69	231264950	11934423	3467	5613											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409824.1_Missense_Mutation_p.V77A|SP100_ENST00000340126.4_Missense_Mutation_p.V102A|SP100_ENST00000409341.1_Missense_Mutation_p.V102A|SP100_ENST00000427101.2_Missense_Mutation_p.V77A|SP100_ENST00000409897.1_Missense_Mutation_p.V67A|SP100_ENST00000409112.1_Missense_Mutation_p.V102A	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													99	474					0	0	1	0	0	C	231308927	T	C	231308927	3	2	22	1	0	0	0	0	1	0	0	0	15014	1638	57	3	319	3	SP100	2	231308927	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43977	231308927	11890446	3468	5614											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	431					0	0	1	0	0	T	231379934	C	T	231379934	3	4	22	1	0	0	0	0	1	0	0	0	15014	768	27	1	2317	1	SP100	2	231379934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71007	231379934	11819439	3469	5615											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_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													54	250					0	0	1	0	0	T	231406637	C	T	231406637	3	4	22	1	0	0	0	0	1	0	0	0	15014	739	26	2	3094	2	SP100	2	231406637	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26703	231406637	11792736	3470	5616											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409788.3_Missense_Mutation_p.T112M|CAB39_ENST00000410084.3_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													28	339					0	0	1	0	0	T	231657983	C	T	231657983	3	4	22	1	0	0	0	0	1	0	0	0	2543	536	19	1	345	1	CAB39	2	231657983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	251346	231657983	11541390	3471	5617											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	422					0	0	1	0	0	A	231927223	G	A	231927223	2	1	22	1	0	0	0	0	0	0	0	1	12741	991	35	2		2	PSMD1	2	231927223	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	269240	231927223	11272150	3472	5618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													146	438					0	0	1	0	0	A	231927275	G	A	231927275	3	1	22	1	0	0	0	0	1	0	0	0	12741	1203	42	2	204	2	PSMD1	2	231927275	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52	231927275	11272098	3473	5619											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_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													101	283					0	0	1	0	0	G	231974067	T	G	231974067	3	3	22	1	0	0	0	0	1	0	0	0	7486	1812	63	3	839	3	HTR2B	2	231974067	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46792	231974067	11225306	3474	5620											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													133	427					0	0	1	0	0	C	232011056	A	C	232011056	3	2	22	1	0	0	0	0	1	0	0	0	12741	101	4	3	2171	3	PSMD1	2	232011056	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36989	232011056	11188317	3475	5621											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	445					0	0	1	0	0	T	232030716	C	T	232030716	2	4	22	1	0	0	0	0	0	0	0	1	12741	518	18	2		2	PSMD1	2	232030716	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19660	232030716	11168657	3476	5622											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_025139.3	NP_001258395.1|NP_079415.3	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													5	141					0	0	1	0	0	A	232104717	G	A	232104717	3	1	22	1	0	0	0	0	1	0	0	0	957	971	34	2	872	2	ARMC9	2	232104717	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74001	232104717	11094656	3477	5623											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													183	457					0	0	1	0	0	T	232263043	C	T	232263043	4	4	22	1	0	0	0	0	0	1	0	0	1260	711	25	2	619	2	B3GNT7	2	232263043	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158326	232263043	10936330	3478	5624											
NCL	4691	broad.mit.edu	37	chr2	232319942	232319944	+	In_Frame_Del	DEL	CCT	CCT	-													ttccttgtggcttgtggtcaCctcctcctcctctgcctcct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232319942_232319944delCCT	ENST00000322723.4	-	14	2331_2333	c.2091_2093delAGG	c.(2089-2094)ggt>gg	p.GG697del		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	697	Arg/Gly/Phe-rich.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CTTGTGGTCACCTCCTCCTCCTC	0.498													8	730	---	---	---	---						-	232319944	CCT	-	232319942	7	5	22	1	0	1	0	1	0	0	0	0	10273	507	18	0	43	0	NCL	2	232319942	In_Frame_Del	DEL	CCT	TCGA-IB-7651-01A-11D-2154-08	56899	232319942	10879431	3479	5625											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	256					6.40141e-05	6.5221e-05	1	1	0	A	232392906	C	A	232392906	3	1	22	1	0	0	0	0	1	0	0	0	10553	797	28	2	462	2	NMUR1	2	232392906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72964	232392906	10806467	3480	5626											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													186	391					1.73986e-79	2.2239e-79	1	1	0	A	232458282	C	A	232458282	3	1	22	1	0	0	0	0	1	0	0	0	2192	797	28	2	622	2	C2orf57	2	232458282	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65376	232458282	10741091	3481	5627											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	174					2.17126e-26	2.5019e-26	1	1	0	T	233244473	G	T	233244473	5	4	22	1	0	0	0	0	0	0	1	0	544	1014	35	2	502	2	ALPP	2	233244473	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	786191	233244473	9954900	3482	5628											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	483					0	0	1	0	0	A	233244614	G	A	233244614	3	1	22	1	0	0	0	0	1	0	0	0	544	1087	38	1	643	1	ALPP	2	233244614	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141	233244614	9954759	3483	5629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	789					0	0	1	0	0	A	233244978	G	A	233244978	3	1	22	1	0	0	0	0	1	0	0	0	544	1232	43	2	762	2	ALPP	2	233244978	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	364	233244978	9954395	3484	5630											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	653					0	0	1	0	0	A	233273059	G	A	233273059	3	1	22	1	0	0	0	0	1	0	0	0	545	1232	43	2	753	2	ALPPL2	2	233273059	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28081	233273059	9926314	3485	5631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	123					0	0	1	0	0	A	233274394	G	A	233274394	3	1	22	1	0	0	0	0	1	0	0	0	545	1145	40	1	1453	1	ALPPL2	2	233274394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1335	233274394	9924979	3486	5632											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	134					0	0	1	0	0	A	233274417	G	A	233274417	2	1	22	1	0	0	0	0	0	0	0	1	545	1074	38	1		1	ALPPL2	2	233274417	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	233274417	9924956	3487	5633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	118					0	0	1	0	0	A	233274433	G	A	233274433	3	1	22	1	0	0	0	0	1	0	0	0	545	1087	38	1	1492	1	ALPPL2	2	233274433	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16	233274433	9924940	3488	5634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	343					0	0	1	0	0	A	233321075	G	A	233321075	2	1	22	1	0	0	0	0	0	0	0	1	539	1103	39	1		1	ALPI	2	233321075	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46642	233321075	9878298	3489	5635											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	144					0	0	1	0	0	T	233321314	C	T	233321314	3	4	22	1	0	0	0	0	1	0	0	0	539	739	26	2	219	2	ALPI	2	233321314	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239	233321314	9878059	3490	5636											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	510					0	0	1	0	0	A	233321938	G	A	233321938	3	1	22	1	0	0	0	0	1	0	0	0	539	1087	38	1	572	1	ALPI	2	233321938	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	624	233321938	9877435	3491	5637											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	226					0	0	1	0	0	G	233346332	A	G	233346332	3	3	22	1	0	0	0	0	1	0	0	0	4917	391	14	3	474	3	ECEL1	2	233346332	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24394	233346332	9853041	3492	5638											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													130	417					0	0	1	0	0	T	233346501	C	T	233346501	3	4	22	1	0	0	0	0	1	0	0	0	4917	884	31	1	496	1	ECEL1	2	233346501	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169	233346501	9852872	3493	5639											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	963					0	0	1	0	0	C	233349192	T	C	233349192	3	2	22	1	0	0	0	0	1	0	0	0	4917	1696	59	3	1205	3	ECEL1	2	233349192	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2691	233349192	9850181	3494	5640											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543200.1_Missense_Mutation_p.R229C|CHRND_ENST00000536614.1_Missense_Mutation_p.P207L	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													130	522					0	0	1	0	0	T	233394759	C	T	233394759	3	4	22	1	0	0	0	0	1	0	0	0	3416	652	23	1	756	1	CHRND	2	233394759	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45567	233394759	9804614	3495	5641											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000452341.2_Intron|KCNJ13_ENST00000409779.1_Missense_Mutation_p.L41F|GIGYF2_ENST00000409547.1_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.L41F|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373563.4_Intron	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													93	276					0	0	1	0	0	A	233635952	G	A	233635952	3	1	22	1	0	0	0	0	1	0	0	0	8091	942	33	2	969	2	KCNJ13	2	233635952	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241193	233635952	9563421	3496	5642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409547.1_Silent_p.V1270V|GIGYF2_ENST00000409480.1_Silent_p.V1292V|GIGYF2_ENST00000409451.3_Silent_p.V1291V|GIGYF2_ENST00000409196.3_Silent_p.V1264V|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													10	283					0	0	1	0	0	T	233715097	C	T	233715097	2	4	22	1	0	0	0	0	0	0	0	1	6420	842	30	2		2	GIGYF2	2	233715097	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79145	233715097	9484276	3497	5643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	330					0	0	1	0	0	C	234085994	T	C	234085994	5	2	22	1	0	0	0	0	0	0	1	0	7800	1710	59	3	1651	3	INPP5D	2	234085994	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	370897	234085994	9113379	3498	5644											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234299129G>A	ENST00000264057.2	+	3	360	c.348_splice	c.e3+1	p.T116_splice	DGKD_ENST00000409813.3_Splice_Site_p.T72_splice|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													64	183					0	0	1	0	0	A	234299129	G	A	234299129	5	1	22	1	0	0	0	0	0	0	1	0	4495	1130	39	1	382	1	DGKD	2	234299129	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	213135	234299129	8900244	3499	5645											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													227	619					0	0	1	0	0	A	234343475	G	A	234343475	3	1	22	1	0	0	0	0	1	0	0	0	4495	1087	38	1	556	1	DGKD	2	234343475	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44346	234343475	8855898	3500	5646											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427112.2_Nonsense_Mutation_p.C894*|USP40_ENST00000409945.1_Nonsense_Mutation_p.C70*|USP40_ENST00000450966.1_Nonsense_Mutation_p.C906*			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													35	111					6.5261e-18	7.22248e-18	1	1	0	T	234407224	G	T	234407224	4	4	22	1	0	0	0	0	0	1	0	0	17132	963	34	2	1065	2	USP40	2	234407224	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63749	234407224	8792149	3501	5647											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427112.2_Missense_Mutation_p.F559C|USP40_ENST00000450966.1_Missense_Mutation_p.F571C			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													55	157					0	0	1	0	0	C	234436099	A	C	234436099	3	2	22	1	0	0	0	0	1	0	0	0	17132	14	1	3	2111	3	USP40	2	234436099	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28875	234436099	8763274	3502	5648											
UGT1A8	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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												p.S78*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		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;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		AAGACTTACTCAACCTCATAC	0.463													138	624					0	0	1	0	0	T	234526586	C	T	234526586	3	4	22	1	0	0	0	0	1	0	0	0	17011	838	29	2	235	2	UGT1A8	2	234526586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90487	234526586	8672787	3503	5649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_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													299	897					0	0	1	0	0	T	234627942	C	T	234627942	3	4	22	1	0	0	0	0	1	0	0	0	17007	768	27	1	478	1	UGT1A4	2	234627942	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101356	234627942	8571431	3504	5650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	647					0	0	1	0	0	A	234891813	G	A	234891813	2	1	22	1	0	0	0	0	0	0	0	1	16653	1103	39	1		1	TRPM8	2	234891813	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263871	234891813	8307560	3505	5651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	257					0	0	1	0	0	G	235404671	T	G	235404671	3	3	22	1	0	0	0	0	1	0	0	0	936	1609	56	3	22	3	ARL4C	2	235404671	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	512858	235404671	7794702	3506	5652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392011.2_Silent_p.Y875Y|SH3BP4_ENST00000344528.4_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													9	56					0	0	1	0	0	T	235961352	C	T	235961352	2	4	22	1	0	0	0	0	0	0	0	1	14300	547	19	1		1	SH3BP4	2	235961352	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	556681	235961352	7238021	3507	5653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:236626223G>T	ENST00000409538.1	+	3	1536	c.1040G>T	c.(1039-1041)aGc>aTc	p.S347I	AGAP1_ENST00000409457.1_Missense_Mutation_p.S82I|AGAP1_ENST00000336665.5_Missense_Mutation_p.S82I|AGAP1_ENST00000304032.7_Missense_Mutation_p.S82I			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	82	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						AACTTGGCCAGCGGCAAGTCT	0.478													63	265					9.5628e-27	1.10398e-26	1	1	0	T	236626223	G	T	236626223	3	4	22	1	0	0	0	0	1	0	0	0	365	971	34	2	255	2	AGAP1	2	236626223	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	664871	236626223	6573150	3508	5654											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:236945321C>A	ENST00000409538.1	+	13	2894	c.2398C>A	c.(2398-2400)Ctg>Atg	p.L800M	AGAP1_ENST00000428334.2_Missense_Mutation_p.L427M|AGAP1_ENST00000336665.5_Missense_Mutation_p.L535M|AGAP1_ENST00000304032.7_Missense_Mutation_p.L588M			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	588					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													57	671					7.06795e-37	8.47427e-37	1	1	0	A	236945321	C	A	236945321	3	1	22	1	0	0	0	0	1	0	0	0	365	680	24	2	1816	2	AGAP1	2	236945321	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	319098	236945321	6254052	3509	5655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237075079G>A	ENST00000306318.4	-	2	922	c.523_splice	c.e2-1	p.V175_splice	GBX2_ENST00000551105.1_Splice_Site_p.R188_splice|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													27	807					0	0	1	0	0	A	237075079	G	A	237075079	5	1	22	1	0	0	0	0	0	0	1	0	6321	1072	37	1	525	1	GBX2	2	237075079	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129758	237075079	6124294	3510	5656											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000551105.1_Missense_Mutation_p.Q171H	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													24	117					6.12954e-19	6.81806e-19	1	1	0	A	237076102	C	A	237076102	3	1	22	1	0	0	0	0	1	0	0	0	6321	680	24	2	541	2	GBX2	2	237076102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1023	237076102	6123271	3511	5657											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC079135.1_ENST00000483218.1_RNA|AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000551105.1_Missense_Mutation_p.A99T	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													22	120					0	0	1	0	0	T	237076320	C	T	237076320	3	4	22	1	0	0	0	0	1	0	0	0	6321	739	26	2	759	2	GBX2	2	237076320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218	237076320	6123053	3512	5658											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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													136	378					2.46909e-68	3.13059e-68	1	1	0	T	237272537	G	T	237272537	2	4	22	1	0	0	0	0	0	0	0	1	7846	1161	41	2		2	IQCA1	2	237272537	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	196217	237272537	5926836	3513	5659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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													10	147					5.50884e-06	5.65664e-06	1	1	0	A	237406070	C	A	237406070	3	1	22	1	0	0	0	0	1	0	0	0	7846	796	28	2	2468	2	IQCA1	2	237406070	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133533	237406070	5793303	3514	5660											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409629.1_Missense_Mutation_p.L71P|COPS8_ENST00000392008.2_Missense_Mutation_p.L22P|COPS8_ENST00000409334.1_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													66	362					0	0	1	0	0	C	237998518	T	C	237998518	3	2	22	1	0	0	0	0	1	0	0	0	3763	1609	56	3	226	3	COPS8	2	237998518	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	592448	237998518	5200855	3515	5661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346358.4_Missense_Mutation_p.P2676L|COL6A3_ENST00000347401.3_Missense_Mutation_p.P2675L|COL6A3_ENST00000353578.4_Missense_Mutation_p.P2670L|COL6A3_ENST00000409809.1_Missense_Mutation_p.P2670L|COL6A3_ENST00000472056.1_Missense_Mutation_p.P2269L	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													173	870					0	0	1	0	0	A	238245116	G	A	238245116	3	1	22	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	3516	5662											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346358.4_Missense_Mutation_p.S2479N|COL6A3_ENST00000347401.3_Missense_Mutation_p.S2478N|COL6A3_ENST00000353578.4_Missense_Mutation_p.S2473N|COL6A3_ENST00000409809.1_Missense_Mutation_p.S2473N|COL6A3_ENST00000472056.1_Missense_Mutation_p.S2072N	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													62	289					0	0	1	0	0	T	238249523	C	T	238249523	3	4	22	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	3517	5663											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346358.4_Missense_Mutation_p.L2307I|COL6A3_ENST00000347401.3_Missense_Mutation_p.L2306I|COL6A3_ENST00000353578.4_Missense_Mutation_p.L2301I|COL6A3_ENST00000409809.1_Missense_Mutation_p.L2301I|COL6A3_ENST00000472056.1_Missense_Mutation_p.L1900I	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													201	581					8.84996e-99	1.13791e-98	1	1	0	T	238253142	G	T	238253142	3	4	22	1	0	0	0	0	1	0	0	0	3724	991	35	2	2050	2	COL6A3	2	238253142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3619	238253142	4946231	3518	5664											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346358.4_Missense_Mutation_p.E1659K|COL6A3_ENST00000347401.3_Missense_Mutation_p.E1658K|COL6A3_ENST00000353578.4_Missense_Mutation_p.E1653K|COL6A3_ENST00000409809.1_Missense_Mutation_p.E1653K|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1252K	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													14	745					0	0	1	0	0	T	238274604	C	T	238274604	3	4	22	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	3519	5665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346358.4_Missense_Mutation_p.Q999E|COL6A3_ENST00000392003.2_Missense_Mutation_p.Q792E|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q998E|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q993E|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q993E|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q993E|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q592E	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													91	285					0	0	1	0	0	C	238283139	G	C	238283139	3	2	22	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	3520	5666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346358.4_Missense_Mutation_p.R725K|COL6A3_ENST00000392003.2_Missense_Mutation_p.R518K|COL6A3_ENST00000347401.3_Missense_Mutation_p.R724K|COL6A3_ENST00000353578.4_Missense_Mutation_p.R719K|COL6A3_ENST00000409809.1_Missense_Mutation_p.R719K|COL6A3_ENST00000392004.3_Missense_Mutation_p.R719K|COL6A3_ENST00000472056.1_Missense_Mutation_p.R318K	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													80	371					0	0	1	0	0	T	238285711	C	T	238285711	3	4	22	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	3521	5667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000468178.1_3'UTR|MLPH_ENST00000338530.4_Missense_Mutation_p.A344D|MLPH_ENST00000410032.1_Missense_Mutation_p.A229D|MLPH_ENST00000409373.1_Missense_Mutation_p.A304D	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													60	149					1.95512e-22	2.21276e-22	1	1	0	A	238449001	C	A	238449001	3	1	22	1	0	0	0	0	1	0	0	0	9681	797	28	2	1149	2	MLPH	2	238449001	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163290	238449001	4750372	3522	5668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000244815.5_Intron|LRRFIP1_ENST00000392000.4_Intron|LRRFIP1_ENST00000289175.6_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													60	325					0	0	1	0	0	A	238632193	G	A	238632193	2	1	22	1	0	0	0	0	0	0	0	1	9072	1074	38	1		1	LRRFIP1	2	238632193	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183192	238632193	4567180	3523	5669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	119					0	0	1	0	0	T	238688109	C	T	238688109	2	4	22	1	0	0	0	0	0	0	0	1	9072	535	19	1		1	LRRFIP1	2	238688109	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55916	238688109	4511264	3524	5670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409864.1_Silent_p.Q467Q|RBM44_ENST00000444524.2_Intron	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													77	220					0	0	1	0	0	A	238726960	G	A	238726960	2	1	22	1	0	0	0	0	0	0	0	1	13190	933	33	2		2	RBM44	2	238726960	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38851	238726960	4472413	3525	5671											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422984.2_Missense_Mutation_p.R91C|SCLY_ENST00000373332.3_Missense_Mutation_p.R103C|SCLY_ENST00000409736.2_Missense_Mutation_p.R185C|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000555827.1_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													66	326					0	0	1	0	0	T	238990418	C	T	238990418	3	4	22	1	0	0	0	0	1	0	0	0	13961	652	23	1	571	1	SCLY	2	238990418	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	263458	238990418	4208955	3526	5672											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422984.2_Missense_Mutation_p.P132H|SCLY_ENST00000373332.3_Missense_Mutation_p.P144H|SCLY_ENST00000409736.2_Missense_Mutation_p.P226H|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000555827.1_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													88	422					6.71967e-41	8.15689e-41	1	1	0	A	238990750	C	A	238990750	3	1	22	1	0	0	0	0	1	0	0	0	13961	681	24	2	699	2	SCLY	2	238990750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	332	238990750	4208623	3527	5673											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	83					0	0	1	0	0	T	239009107	C	T	239009107	3	4	22	1	0	0	0	0	1	0	0	0	5283	768	27	1	49	1	ESPNL	2	239009107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18357	239009107	4190266	3528	5674											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	123					0	0	1	0	0	T	239016582	C	T	239016582	3	4	22	1	0	0	0	0	1	0	0	0	5283	681	24	2	837	2	ESPNL	2	239016582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7475	239016582	4182791	3529	5675											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	145					5.91797e-21	6.65236e-21	1	1	0	T	239040166	G	T	239040166	2	4	22	1	0	0	0	0	0	0	0	1	5283	1103	39	4		4	ESPNL	2	239040166	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23584	239040166	4159207	3530	5676											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	155					6.05902e-23	6.8732e-23	1	1	0	A	239049856	C	A	239049856	3	1	22	1	0	0	0	0	1	0	0	0	8427	739	26	2	463	2	KLHL30	2	239049856	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9690	239049856	4149517	3531	5677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	50					0	0	1	0	0	A	239054470	G	A	239054470	3	1	22	1	0	0	0	0	1	0	0	0	8427	1116	39	1	1161	1	KLHL30	2	239054470	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4614	239054470	4144903	3532	5678											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	133					0	0	1	0	0	T	239056536	C	T	239056536	2	4	22	1	0	0	0	0	0	0	0	1	8427	639	23	1		1	KLHL30	2	239056536	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2066	239056536	4142837	3533	5679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	36					0	0	1	0	0	T	239059487	C	T	239059487	2	4	22	1	0	0	0	0	0	0	0	1	8427	755	27	1		1	KLHL30	2	239059487	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2951	239059487	4139886	3534	5680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409574.1_Missense_Mutation_p.R100H|HES6_ENST00000409002.3_Silent_p.T111T|HES6_ENST00000272937.5_Silent_p.T113T|HES6_ENST00000409182.1_Silent_p.T84T|AC096574.4_ENST00000456601.1_RNA	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													23	237					0	0	1	0	0	T	239147804	C	T	239147804	3	4	22	1	0	0	0	0	1	0	0	0	7111	523	19	1	339	1	HES6	2	239147804	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88317	239147804	4051569	3535	5681											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	120					0	0	1	0	0	A	239159221	G	A	239159221	2	1	22	1	0	0	0	0	0	0	0	1	11777	1078	38	1		1	PER2	2	239159221	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11417	239159221	4040152	3536	5682											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	365					6.83383e-50	8.46023e-50	1	1	0	T	239161789	G	T	239161789	3	4	22	1	0	0	0	0	1	0	0	0	11777	1203	42	2	912	2	PER2	2	239161789	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2568	239161789	4037584	3537	5683											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	384					0	0	1	0	0	A	239161903	G	A	239161903	3	1	22	1	0	0	0	0	1	0	0	0	11777	1203	42	2	1026	2	PER2	2	239161903	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114	239161903	4037470	3538	5684											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440245.1_Missense_Mutation_p.F239L|PER2_ENST00000355768.2_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													127	477					0	0	1	0	0	G	239180010	A	G	239180010	3	3	22	1	0	0	0	0	1	0	0	0	11777	43	2	3	3124	3	PER2	2	239180010	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18107	239180010	4019363	3539	5685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	214					0	0	1	0	0	A	239234548	G	A	239234548	2	1	22	1	0	0	0	0	0	0	0	1	16501	1103	39	1		1	TRAF3IP1	2	239234548	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54538	239234548	3964825	3540	5686											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	391					0	0	1	0	0	C	239306131	A	C	239306131	3	2	22	1	0	0	0	0	1	0	0	0	16501	72	3	3	1783	3	TRAF3IP1	2	239306131	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	71583	239306131	3893242	3541	5687											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	317					1.68508e-47	2.07469e-47	1	1	0	T	239306183	G	T	239306183	3	4	22	1	0	0	0	0	1	0	0	0	16501	933	33	2	1835	2	TRAF3IP1	2	239306183	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52	239306183	3893190	3542	5688											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	160					0	0	1	0	0	C	240029793	T	C	240029793	3	2	22	1	0	0	0	0	1	0	0	0	7050	1551	54	3	1256	3	HDAC4	2	240029793	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	723610	240029793	3169580	3543	5689											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	132					0	0	1	0	0	A	240033255	G	A	240033255	4	1	22	1	0	0	0	0	0	1	0	0	7050	1328	46	2	1380	2	HDAC4	2	240033255	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3462	240033255	3166118	3544	5690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	240					0	0	1	0	0	A	240048328	G	A	240048328	3	1	22	1	0	0	0	0	1	0	0	0	7050	1115	39	1	1976	1	HDAC4	2	240048328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15073	240048328	3151045	3545	5691											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	316					6.11987e-43	7.46226e-43	1	1	0	T	240921628	G	T	240921628	2	4	22	1	0	0	0	0	0	0	0	1	10307	1189	41	2		2	NDUFA10	2	240921628	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	873300	240921628	2277745	3546	5692											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000307300.4_Missense_Mutation_p.E346V|NDUFA10_ENST00000404554.1_Missense_Mutation_p.E316V	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													118	323					0	0	1	0	0	A	240929543	T	A	240929543	3	1	22	1	0	0	0	0	1	0	0	0	10307	1783	62	5	128	5	NDUFA10	2	240929543	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7915	240929543	2269830	3547	5693											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000307300.4_Missense_Mutation_p.A105T|NDUFA10_ENST00000404554.1_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)	73	208					0	0	1	0	0	T	240960761	C	T	240960761	3	4	22	1	0	0	0	0	1	0	0	0	10307	768	27	1	786	1	NDUFA10	2	240960761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31218	240960761	2238612	3548	5694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	242					0	0	1	0	0	T	240969775	C	T	240969775	2	4	22	1	0	0	0	0	0	0	0	1	11235	564	20	2		2	OR6B2	2	240969775	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9014	240969775	2229598	3549	5695											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	480					0	0	1	0	0	G	241073376	T	G	241073376	3	3	22	1	0	0	0	0	1	0	0	0	10074	1609	56	3	575	3	MYEOV2	2	241073376	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	103601	241073376	2125997	3550	5696											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	519					0	0	1	0	0	T	241073406	C	T	241073406	3	4	22	1	0	0	0	0	1	0	0	0	10074	623	22	2	605	2	MYEOV2	2	241073406	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30	241073406	2125967	3551	5697											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373320.4_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.P270S|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.P181S			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													108	390					0	0	1	0	0	A	241468599	G	A	241468599	3	1	22	1	0	0	0	0	1	0	0	0	630	1203	42	2	2340	2	ANKMY1	2	241468599	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	395193	241468599	1730774	3552	5698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373320.4_Missense_Mutation_p.G61V|ANKMY1_ENST00000406958.1_Missense_Mutation_p.G150V|ANKMY1_ENST00000361678.4_Missense_Mutation_p.G150V|ANKMY1_ENST00000373318.2_Missense_Mutation_p.G150V|ANKMY1_ENST00000401804.1_Missense_Mutation_p.G150V|ANKMY1_ENST00000405523.3_Missense_Mutation_p.G150V|ANKMY1_ENST00000405002.1_Missense_Mutation_p.G61V|ANKMY1_ENST00000536462.1_Missense_Mutation_p.G103V|ANKMY1_ENST00000403283.1_Missense_Mutation_p.G229V|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000272972.3_Missense_Mutation_p.G61V			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													7	285					8.12818e-05	8.2724e-05	1	1	0	A	241492362	C	A	241492362	3	1	22	1	0	0	0	0	1	0	0	0	630	739	26	2	2703	2	ANKMY1	2	241492362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23763	241492362	1707011	3553	5699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	379					1.3612e-06	1.40558e-06	1	1	0	T	241622183	G	T	241622183	2	4	22	1	0	0	0	0	0	0	0	1	822	987	35	2		2	AQP12B	2	241622183	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129821	241622183	1577190	3554	5700											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	386					1.15629e-50	1.43295e-50	1	1	0	A	241656817	C	A	241656817	3	1	22	1	0	0	0	0	1	0	0	0	8325	796	28	2	39	2	KIF1A	2	241656817	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34634	241656817	1542556	3555	5701											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	69					2.89027e-11	3.08062e-11	1	1	0	A	241666339	C	A	241666339	3	1	22	1	0	0	0	0	1	0	0	0	8325	680	24	2	1393	2	KIF1A	2	241666339	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9522	241666339	1533034	3556	5702											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	94					0	0	1	0	0	T	241697877	C	T	241697877	3	4	22	1	0	0	0	0	1	0	0	0	8325	768	27	1	2709	1	KIF1A	2	241697877	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31538	241697877	1501496	3557	5703											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	137					0	0	1	0	0	A	241709069	G	A	241709069	3	1	22	1	0	0	0	0	1	0	0	0	8325	1086	38	1	3835	1	KIF1A	2	241709069	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11192	241709069	1490304	3558	5704											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	82					0	0	1	0	0	A	241737164	G	A	241737164	2	1	22	1	0	0	0	0	0	0	0	1	8325	1103	39	1		1	KIF1A	2	241737164	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28095	241737164	1462209	3559	5705											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	343					0	0	1	0	0	T	241808766	C	T	241808766	2	4	22	1	0	0	0	0	0	0	0	1	401	874	31	1		1	AGXT	2	241808766	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71602	241808766	1390607	3560	5706											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	354					0	0	1	0	0	A	241814608	G	A	241814608	3	1	22	1	0	0	0	0	1	0	0	0	401	1058	37	1	789	1	AGXT	2	241814608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5842	241814608	1384765	3561	5707											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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													54	280					0	0	1	0	0	T	241829557	C	T	241829557	2	4	22	1	0	0	0	0	0	0	0	1	2189	697	25	2		2	C2orf54	2	241829557	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14949	241829557	1369816	3562	5708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Missense_Mutation_p.R475H|SNED1_ENST00000401884.1_Missense_Mutation_p.R475H|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000405547.3_Missense_Mutation_p.R475H	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													29	80					0	0	1	0	0	A	241988103	G	A	241988103	3	1	22	1	0	0	0	0	1	0	0	0	14899	1087	38	1	1462	1	SNED1	2	241988103	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158546	241988103	1211270	3563	5709											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000234040.4_Missense_Mutation_p.R1120C|PASK_ENST00000358649.4_Missense_Mutation_p.R1127C|PASK_ENST00000544142.1_Missense_Mutation_p.R934C|PASK_ENST00000539818.1_Missense_Mutation_p.R904C|PASK_ENST00000475666.1_5'UTR	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													55	162					0	0	1	0	0	A	242051830	G	A	242051830	3	1	22	1	0	0	0	0	1	0	0	0	11519	1087	38	1	629	1	PASK	2	242051830	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63727	242051830	1147543	3564	5710											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000234040.4_Silent_p.D1018D|PASK_ENST00000358649.4_Silent_p.D1018D|PASK_ENST00000544142.1_Silent_p.D832D|PASK_ENST00000539818.1_Silent_p.D802D|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													50	596					0	0	1	0	0	A	242062165	G	A	242062165	2	1	22	1	0	0	0	0	0	0	0	1	11519	1368	48	2		2	PASK	2	242062165	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10335	242062165	1137208	3565	5711											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000234040.4_Silent_p.L162L|PASK_ENST00000358649.4_Silent_p.L162L|PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|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													38	174					0	0	1	0	0	A	242079416	G	A	242079416	2	1	22	1	0	0	0	0	0	0	0	1	11519	991	35	2		2	PASK	2	242079416	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17251	242079416	1119957	3566	5712											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000234040.4_Silent_p.S76S|PASK_ENST00000358649.4_Silent_p.S76S|PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|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													58	243					0	0	1	0	0	C	242080137	T	C	242080137	2	2	22	1	0	0	0	0	0	0	0	1	11519	1683	59	3		3	PASK	2	242080137	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	721	242080137	1119236	3567	5713											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002712.1	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													17	413					8.34094e-07	8.61956e-07	1	1	0	A	242122122	C	A	242122122	3	1	22	1	0	0	0	0	1	0	0	0	12425	680	24	2	1005	2	PPP1R7	2	242122122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41985	242122122	1077251	3568	5714											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	385					0	0	1	0	0	A	242149899	G	A	242149899	3	1	22	1	0	0	0	0	1	0	0	0	696	971	34	2	1767	2	ANO7	2	242149899	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27777	242149899	1049474	3569	5715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	397					0	0	1	0	0	A	242155543	G	A	242155543	3	1	22	1	0	0	0	0	1	0	0	0	696	1087	38	1	2170	1	ANO7	2	242155543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5644	242155543	1043830	3570	5716											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_976221.1	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													13	469					0	0	1	0	0	T	242173318	C	T	242173318	3	4	22	1	0	0	0	0	1	0	0	0	7066	652	23	1	621	1	HDLBP	2	242173318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17775	242173318	1026055	3571	5717											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427183.2_Missense_Mutation_p.E463D|HDLBP_ENST00000391976.2_Missense_Mutation_p.E496D|HDLBP_ENST00000310931.4_Missense_Mutation_p.E496D|HDLBP_ENST00000476807.1_5'UTR	NM_203346.3	NP_976221.1	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													113	309					4.04957e-52	5.03512e-52	1	1	0	A	242189280	C	A	242189280	3	1	22	1	0	0	0	0	1	0	0	0	7066	796	28	2	2386	2	HDLBP	2	242189280	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15962	242189280	1010093	3572	5718											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_976221.1	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													128	350					0	0	1	0	0	C	242192398	T	C	242192398	3	2	22	1	0	0	0	0	1	0	0	0	7066	1696	59	3	2532	3	HDLBP	2	242192398	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3118	242192398	1006975	3573	5719											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360051.3_Missense_Mutation_p.P214H|SEPT2_ENST00000402092.2_Missense_Mutation_p.P214H|SEPT2_ENST00000407971.1_Missense_Mutation_p.P174H|SEPT2_ENST00000401990.1_Missense_Mutation_p.P224H|SEPT2_ENST00000391971.2_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													86	475					2.1089e-46	2.5903e-46	1	1	0	A	242282453	C	A	242282453	3	1	22	1	0	0	0	0	1	0	0	0	14118	681	24	2	667	2	SEPT2	2	242282453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90055	242282453	916920	3574	5720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	202					0	0	1	0	0	A	242415374	G	A	242415374	3	1	22	1	0	0	0	0	1	0	0	0	5710	1203	42	2	2304	2	FARP2	2	242415374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132921	242415374	783999	3575	5721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405585.1_Missense_Mutation_p.V146I|STK25_ENST00000403346.3_Missense_Mutation_p.V223I|STK25_ENST00000405883.3_Missense_Mutation_p.V146I|STK25_ENST00000401869.1_Missense_Mutation_p.V223I|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000535007.1_Missense_Mutation_p.V129I|STK25_ENST00000543554.1_Missense_Mutation_p.V129I	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	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													82	270					0	0	1	0	0	T	242438508	C	T	242438508	3	4	22	1	0	0	0	0	1	0	0	0	15350	536	19	1	637	1	STK25	2	242438508	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23134	242438508	760865	3576	5722											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405585.1_Intron|STK25_ENST00000403346.3_Silent_p.K49K|STK25_ENST00000405883.3_Intron|STK25_ENST00000401869.1_Silent_p.K49K|STK25_ENST00000535007.1_5'UTR|STK25_ENST00000543554.1_5'UTR	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	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													79	333					0	0	1	0	0	T	242441007	C	T	242441007	2	4	22	1	0	0	0	0	0	0	0	1	15350	912	32	2		2	STK25	2	242441007	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2499	242441007	758366	3577	5723											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	164					0	0	1	0	0	A	242572459	G	A	242572459	2	1	22	1	0	0	0	0	0	0	0	1	15906	1074	38	1		1	THAP4	2	242572459	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131452	242572459	626914	3578	5724											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													192	552					0	0	1	0	0	A	242572744	G	A	242572744	2	1	22	1	0	0	0	0	0	0	0	1	15906	1103	39	1		1	THAP4	2	242572744	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	285	242572744	626629	3579	5725											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													237	595					0	0	1	0	0	T	242573285	C	T	242573285	3	4	22	1	0	0	0	0	1	0	0	0	15906	739	26	2	1474	2	THAP4	2	242573285	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	541	242573285	626088	3580	5726											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													228	595					9.60768e-89	1.23263e-88	1	1	0	T	242648728	G	T	242648728	3	4	22	1	0	0	0	0	1	0	0	0	7783	933	33	2	217	2	ING5	2	242648728	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75443	242648728	550645	3581	5727											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													119	438					0	0	1	0	0	T	242650891	C	T	242650891	4	4	22	1	0	0	0	0	0	1	0	0	7783	760	27	1	390	1	ING5	2	242650891	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2163	242650891	548482	3582	5728											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000403782.1_Missense_Mutation_p.R18H|D2HGDH_ENST00000342518.6_Missense_Mutation_p.R152H|D2HGDH_ENST00000537090.1_Missense_Mutation_p.R152H	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													51	256					0	0	1	0	0	A	242681954	G	A	242681954	3	1	22	1	0	0	0	0	1	0	0	0	4237	1087	38	1	465	1	D2HGDH	2	242681954	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31063	242681954	517419	3583	5729											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000403782.1_Missense_Mutation_p.A194T|D2HGDH_ENST00000486953.1_3'UTR	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													9	428					0	0	1	0	0	A	242689694	G	A	242689694	3	1	22	1	0	0	0	0	1	0	0	0	4237	1203	42	2	1004	2	D2HGDH	2	242689694	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7740	242689694	509679	3584	5730											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000403782.1_Missense_Mutation_p.G299D|D2HGDH_ENST00000486953.1_3'UTR	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													72	333					0	0	1	0	0	A	242695421	G	A	242695421	3	1	22	1	0	0	0	0	1	0	0	0	4237	1203	42	2	1328	2	D2HGDH	2	242695421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5727	242695421	503952	3585	5731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405370.1_Missense_Mutation_p.R17S|NEU4_ENST00000325935.6_Missense_Mutation_p.R30S|NEU4_ENST00000404257.1_Missense_Mutation_p.R29S|NEU4_ENST00000407683.1_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													62	241					1.55545e-33	1.84439e-33	1	1	0	T	242755732	G	T	242755732	3	4	22	1	0	0	0	0	1	0	0	0	10391	1165	41	2	96	2	NEU4	2	242755732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60311	242755732	443641	3586	5732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	218					0	0	1	0	0	A	242794943	G	A	242794943	3	1	22	1	0	0	0	0	1	0	0	0	11662	1232	43	2	616	2	PDCD1	2	242794943	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39211	242794943	404430	3587	5733											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.K545R	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													73	288					0	0	1	0	0	G	407729	A	G	407729	3	3	22	1	0	0	0	0	1	0	0	0	3371	14	1	3	1732	3	CHL1	3	407729	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08		407729	197614701	3588	5734											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	328					0	0	1	0	0	A	433368	G	A	433368	2	1	22	1	0	0	0	0	0	0	0	1	3371	962	34	2		2	CHL1	3	433368	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25639	433368	197589062	3589	5735											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539053.1_Missense_Mutation_p.L386I|CNTN6_ENST00000350110.2_Missense_Mutation_p.L458I			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													35	184					1.41851e-31	1.671e-31	1	1	0	A	1394015	C	A	1394015	3	1	22	1	0	0	0	0	1	0	0	0	3668	913	32	2	1414	2	CNTN6	3	1394015	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	960647	1394015	196628415	3590	5736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539053.1_Nonsense_Mutation_p.G484*|CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G556*			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													50	219					7.34454e-26	8.44522e-26	1	1	0	T	1414156	G	T	1414156	4	4	22	1	0	0	0	0	0	1	0	0	3668	1001	35	2	1712	2	CNTN6	3	1414156	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20141	1414156	196608274	3591	5737											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539053.1_Nonsense_Mutation_p.G736*|CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G808*			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													202	956					9.68185e-62	1.21959e-61	1	1	0	T	1424997	G	T	1424997	4	4	22	1	0	0	0	0	0	1	0	0	3668	1233	43	2	2492	2	CNTN6	3	1424997	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10841	1424997	196597433	3592	5738											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427331.1_Missense_Mutation_p.R169H|CNTN4_ENST00000358480.3_5'UTR|CNTN4_ENST00000418658.1_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													99	575					0	0	1	0	0	A	2908487	G	A	2908487	3	1	22	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	3593	5739											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427331.1_Missense_Mutation_p.R269M|CNTN4_ENST00000358480.3_Missense_Mutation_p.R50M|CNTN4_ENST00000418658.1_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													40	175					3.66854e-30	4.2996e-30	1	1	0	T	2928774	G	T	2928774	3	4	22	1	0	0	0	0	1	0	0	0	3666	1000	35	2	832	2	CNTN4	3	2928774	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20287	2928774	195093656	3594	5740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448906.2_Missense_Mutation_p.S186N|CNTN4_ENST00000397459.2_Missense_Mutation_p.S186N|CNTN4_ENST00000427331.1_Missense_Mutation_p.S514N|CNTN4_ENST00000358480.3_Missense_Mutation_p.S295N|CNTN4_ENST00000418658.1_Missense_Mutation_p.S514N	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													44	190					0	0	1	0	0	A	3067840	G	A	3067840	3	1	22	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	3595	5741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	284					0.00116845	0.00118049	1	1	0	A	3215924	C	A	3215924	4	1	22	1	0	0	0	0	0	1	0	0	3874	922	32	2	1168	2	CRBN	3	3215924	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148084	3215924	194806506	3596	5742											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													141	591					0	0	1	0	0	T	3888139	C	T	3888139	3	4	22	1	0	0	0	0	1	0	0	0	9079	565	20	2	1816	2	LRRN1	3	3888139	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	672215	3888139	194134291	3597	5743											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4683897A>C	ENST00000354582.6	+	7	837	c.487A>C	c.(487-489)Att>Ctt	p.I163L	ITPR1_ENST00000456211.2_Missense_Mutation_p.I163L|ITPR1_ENST00000423119.2_Missense_Mutation_p.I163L|ITPR1_ENST00000443694.2_Missense_Mutation_p.I163L|ITPR1_ENST00000544951.1_Missense_Mutation_p.I163L|ITPR1_ENST00000302640.8_Missense_Mutation_p.I163L|ITPR1_ENST00000357086.4_Missense_Mutation_p.I163L			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													15	172					0	0	1	0	0	C	4683897	A	C	4683897	3	2	22	1	0	0	0	0	1	0	0	0	7964	449	16	3	505	3	ITPR1	3	4683897	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	795758	4683897	193338533	3598	5744											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4683914G>T	ENST00000354582.6	+	7	854	c.504G>T	c.(502-504)aaG>aaT	p.K168N	ITPR1_ENST00000456211.2_Missense_Mutation_p.K168N|ITPR1_ENST00000423119.2_Missense_Mutation_p.K168N|ITPR1_ENST00000443694.2_Missense_Mutation_p.K168N|ITPR1_ENST00000544951.1_Missense_Mutation_p.K168N|ITPR1_ENST00000302640.8_Missense_Mutation_p.K168N|ITPR1_ENST00000357086.4_Missense_Mutation_p.K168N			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													16	159					7.07596e-05	7.20791e-05	1	1	0	T	4683914	G	T	4683914	3	4	22	1	0	0	0	0	1	0	0	0	7964	962	34	2	522	2	ITPR1	3	4683914	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	4683914	193338516	3599	5745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443694.2_Missense_Mutation_p.A1578V|ITPR1_ENST00000456211.2_Missense_Mutation_p.A1569V|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.A1584V|ITPR1_ENST00000354582.6_Missense_Mutation_p.A1593V|ITPR1_ENST00000357086.4_Missense_Mutation_p.A1584V	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													32	187					0	0	1	0	0	T	4747971	C	T	4747971	3	4	22	1	0	0	0	0	1	0	0	0	7964	739	26	2	4916	2	ITPR1	3	4747971	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64057	4747971	193274459	3600	5746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443694.2_Silent_p.S2273S|ITPR1_ENST00000456211.2_Silent_p.S2225S|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Silent_p.S2240S|ITPR1_ENST00000354582.6_Silent_p.S2273S|ITPR1_ENST00000357086.4_Silent_p.S2240S	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													28	110					0	0	1	0	0	A	4836804	G	A	4836804	2	1	22	1	0	0	0	0	0	0	0	1	7964	1132	40	1		1	ITPR1	3	4836804	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88833	4836804	193185626	3601	5747											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443694.2_Missense_Mutation_p.L2381M|ITPR1_ENST00000456211.2_Missense_Mutation_p.L2333M|ITPR1_ENST00000544951.1_Missense_Mutation_p.L359M|ITPR1_ENST00000423119.2_Missense_Mutation_p.L2348M|ITPR1_ENST00000354582.6_Missense_Mutation_p.L2381M|ITPR1_ENST00000357086.4_Missense_Mutation_p.L2348M|ITPR1_ENST00000463980.1_3'UTR	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													61	212					1.19403e-26	1.3775e-26	1	1	0	A	4847865	C	A	4847865	3	1	22	1	0	0	0	0	1	0	0	0	7964	912	32	2	7396	2	ITPR1	3	4847865	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11061	4847865	193174565	3602	5748											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443694.2_Missense_Mutation_p.T2419I|ITPR1_ENST00000456211.2_Missense_Mutation_p.T2371I|ITPR1_ENST00000544951.1_Missense_Mutation_p.T397I|ITPR1_ENST00000423119.2_Missense_Mutation_p.T2386I|ITPR1_ENST00000354582.6_Missense_Mutation_p.T2419I|ITPR1_ENST00000357086.4_Missense_Mutation_p.T2386I|ITPR1_ENST00000463980.1_3'UTR	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													30	136					0	0	1	0	0	T	4852977	C	T	4852977	3	4	22	1	0	0	0	0	1	0	0	0	7964	565	20	2	7515	2	ITPR1	3	4852977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5112	4852977	193169453	3603	5749											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443694.2_Missense_Mutation_p.S2550F|ITPR1_ENST00000456211.2_Missense_Mutation_p.S2502F|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000544951.1_Missense_Mutation_p.S528F|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.S2517F|ITPR1_ENST00000354582.6_Missense_Mutation_p.S2550F|ITPR1_ENST00000357086.4_Missense_Mutation_p.S2517F|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000489771.1_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													6	229					0	0	1	0	0	T	4856239	C	T	4856239	3	4	22	1	0	0	0	0	1	0	0	0	7964	855	30	2	7916	2	ITPR1	3	4856239	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3262	4856239	193166191	3604	5750											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	498					0	0	1	0	0	T	5025367	C	T	5025367	3	4	22	1	0	0	0	0	1	0	0	0	1422	507	18	2	1247	2	BHLHE40	3	5025367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169128	5025367	192997063	3605	5751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	298					0	0	1	0	0	T	5257520	C	T	5257520	3	4	22	1	0	0	0	0	1	0	0	0	4937	884	31	1	1937	1	EDEM1	3	5257520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	232153	5257520	192764910	3606	5752											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402647.2_Silent_p.S63S|GRM7_ENST00000389336.4_Silent_p.S63S|GRM7_ENST00000357716.4_Silent_p.S63S|GRM7_ENST00000403881.1_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													12	78					0	0	1	0	0	T	6903264	C	T	6903264	2	4	22	1	0	0	0	0	0	0	0	1	6843	767	27	1		1	GRM7	3	6903264	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1645744	6903264	191119166	3607	5753											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402647.2_Missense_Mutation_p.A85T|GRM7_ENST00000389336.4_Missense_Mutation_p.A85T|GRM7_ENST00000357716.4_Missense_Mutation_p.A85T|GRM7_ENST00000403881.1_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													17	113					0	0	1	0	0	A	6903328	G	A	6903328	3	1	22	1	0	0	0	0	1	0	0	0	6843	1087	38	1	255	1	GRM7	3	6903328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64	6903328	191119102	3608	5754											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402647.2_Silent_p.T121T|GRM7_ENST00000389336.4_Silent_p.T121T|GRM7_ENST00000357716.4_Silent_p.T121T|GRM7_ENST00000403881.1_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													62	238					0	0	1	0	0	G	6903438	T	G	6903438	2	3	22	1	0	0	0	0	0	0	0	1	6843	1596	56	3		3	GRM7	3	6903438	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	110	6903438	191118992	3609	5755											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402647.2_Missense_Mutation_p.A623S|GRM7_ENST00000389336.4_Missense_Mutation_p.A623S|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Missense_Mutation_p.A623S|GRM7_ENST00000403881.1_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													66	673					9.39563e-20	1.04965e-19	1	1	0	T	7620460	G	T	7620460	3	4	22	1	0	0	0	0	1	0	0	0	6843	1203	42	2	1897	2	GRM7	3	7620460	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	717022	7620460	190401970	3610	5756											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402647.2_Silent_p.T675T|GRM7_ENST00000389336.4_Silent_p.T675T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Silent_p.T675T|GRM7_ENST00000403881.1_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													36	314					0	0	1	0	0	A	7620618	G	A	7620618	2	1	22	1	0	0	0	0	0	0	0	1	6843	1045	37	1		1	GRM7	3	7620618	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158	7620618	190401812	3611	5757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402647.2_Missense_Mutation_p.A693T|GRM7_ENST00000389336.4_Missense_Mutation_p.A693T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Missense_Mutation_p.A693T|GRM7_ENST00000403881.1_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													47	203					0	0	1	0	0	A	7620670	G	A	7620670	3	1	22	1	0	0	0	0	1	0	0	0	6843	971	34	2	2107	2	GRM7	3	7620670	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52	7620670	190401760	3612	5758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402647.2_Missense_Mutation_p.I775T|GRM7_ENST00000389336.4_Missense_Mutation_p.I775T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Missense_Mutation_p.I775T|GRM7_ENST00000403881.1_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													78	287					0	0	1	0	0	C	7620917	T	C	7620917	3	2	22	1	0	0	0	0	1	0	0	0	6843	1435	50	3	2354	3	GRM7	3	7620917	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	247	7620917	190401513	3613	5759											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Silent_p.S191S|LMCD1_ENST00000454244.1_Silent_p.S118S|LMCD1_ENST00000397386.3_Silent_p.S79S	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													133	591					0	0	1	0	0	T	8590439	C	T	8590439	2	4	22	1	0	0	0	0	0	0	0	1	8885	767	27	1		1	LMCD1	3	8590439	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	969522	8590439	189431991	3614	5760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	326					2.32416e-17	2.56562e-17	1	1	0	T	8794867	G	T	8794867	3	4	22	1	0	0	0	0	1	0	0	0	11385	962	34	2	207	2	OXTR	3	8794867	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	204428	8794867	189227563	3615	5761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								15	85					0	0	1	0	0	A	9032472	G	A	9032472	2	1	22	1	0	0	0	0	0	0	0	1	15203	1074	38	1		1	SRGAP3	3	9032472	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237605	9032472	188989958	3616	5762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								55	251					0	0	1	0	0	A	9055047	G	A	9055047	3	1	22	1	0	0	0	0	1	0	0	0	15203	1115	39	1	1231	1	SRGAP3	3	9055047	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22575	9055047	188967383	3617	5763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360413.3_Missense_Mutation_p.H260R|SRGAP3_ENST00000433332.3_5'UTR	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								22	481					0	0	1	0	0	C	9101937	T	C	9101937	3	2	22	1	0	0	0	0	1	0	0	0	15203	1464	51	3	2623	3	SRGAP3	3	9101937	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46890	9101937	188920493	3618	5764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407969.1_Missense_Mutation_p.P489S|SETD5_ENST00000302463.6_Missense_Mutation_p.P372S|SETD5_ENST00000402198.1_Missense_Mutation_p.P470S|SETD5_ENST00000406341.1_Missense_Mutation_p.P470S			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													22	58					0	0	1	0	0	T	9486952	C	T	9486952	3	4	22	1	0	0	0	0	1	0	0	0	14188	855	30	2	1446	2	SETD5	3	9486952	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	385015	9486952	188535478	3619	5765											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407969.1_Missense_Mutation_p.A917V|SETD5_ENST00000302463.6_Missense_Mutation_p.A800V|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402198.1_Missense_Mutation_p.A898V|SETD5_ENST00000406341.1_Missense_Mutation_p.A898V			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													100	498					0	0	1	0	0	T	9506325	C	T	9506325	3	4	22	1	0	0	0	0	1	0	0	0	14188	797	28	2	2755	2	SETD5	3	9506325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19373	9506325	188516105	3620	5766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407969.1_Missense_Mutation_p.A1102D|SETD5_ENST00000302463.6_Missense_Mutation_p.A985D|SETD5_ENST00000402198.1_Missense_Mutation_p.A1083D|SETD5_ENST00000406341.1_Missense_Mutation_p.A1083D			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													29	149					1.61788e-16	1.7777e-16	1	1	0	A	9514972	C	A	9514972	3	1	22	1	0	0	0	0	1	0	0	0	14188	797	28	2	3318	2	SETD5	3	9514972	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8647	9514972	188507458	3621	5767											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407969.1_Missense_Mutation_p.Q1287H|SETD5_ENST00000302463.6_Missense_Mutation_p.Q1170H|SETD5_ENST00000402198.1_Missense_Mutation_p.Q1268H|SETD5_ENST00000406341.1_Missense_Mutation_p.Q1268H			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													36	328					2.05212e-20	2.2997e-20	1	1	0	T	9517250	G	T	9517250	3	4	22	1	0	0	0	0	1	0	0	0	14188	1020	36	2	3886	2	SETD5	3	9517250	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2278	9517250	188505180	3622	5768											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000353332.5_Silent_p.H329H|MTMR14_ENST00000351233.5_Silent_p.H329H|MTMR14_ENST00000420925.1_Silent_p.H83H	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													90	451					0	0	1	0	0	T	9726291	C	T	9726291	2	4	22	1	0	0	0	0	0	0	0	1	9990	564	20	2		2	MTMR14	3	9726291	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209041	9726291	188296139	3623	5769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000353332.5_Missense_Mutation_p.R345H|MTMR14_ENST00000351233.5_Missense_Mutation_p.R345H|MTMR14_ENST00000420925.1_Missense_Mutation_p.R99H	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													78	350					0	0	1	0	0	A	9726338	G	A	9726338	3	1	22	1	0	0	0	0	1	0	0	0	9990	1087	38	1	1076	1	MTMR14	3	9726338	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47	9726338	188296092	3624	5770											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	69					0	0	1	0	0	T	9746668	C	T	9746668	3	4	22	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	3625	5771											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000302054.3_Missense_Mutation_p.I624N|BRPF1_ENST00000457855.1_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													40	220					0	0	1	0	0	A	9783725	T	A	9783725	3	1	22	1	0	0	0	0	1	0	0	0	1522	1493	52	5	1889	5	BRPF1	3	9783725	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37057	9783725	188238705	3626	5772											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000302054.3_Missense_Mutation_p.S926R|BRPF1_ENST00000457855.1_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													38	146					0	0	1	0	0	G	9786068	T	G	9786068	3	3	22	1	0	0	0	0	1	0	0	0	1522	1664	58	3	2826	3	BRPF1	3	9786068	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2343	9786068	188236362	3627	5773											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000349503.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000383826.5_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													7	230					0	0	1	0	0	T	9804668	C	T	9804668	3	4	22	1	0	0	0	0	1	0	0	0	2614	768	27	1	785	1	CAMK1	3	9804668	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18600	9804668	188217762	3628	5774											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000349503.5_Splice_Site|OGG1_ENST00000302036.7_Splice_Site|OGG1_ENST00000302008.8_Splice_Site|OGG1_ENST00000383826.5_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													35	293					3.03874e-20	3.40186e-20	1	1	0	T	9807492	G	T	9807492	3	4	22	1	0	0	0	0	1	0	0	0	2614	1014	35	2	986	2	CAMK1	3	9807492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2824	9807492	188214938	3629	5775											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	OGG1_ENST00000449570.2_3'UTR|OGG1_ENST00000349503.5_Missense_Mutation_p.S294Y|OGG1_ENST00000302008.8_3'UTR|OGG1_ENST00000383826.5_3'UTR|CAMK1_ENST00000256460.3_Intron	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					58	229					1.19403e-26	1.3775e-26	1	1	0	A	9807626	C	A	9807626	3	1	22	1	0	0	0	0	1	0	0	0	10893	855	30	2	1528	2	OGG1	3	9807626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134	9807626	188214804	3630	5776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427853.3_Silent_p.I3I|ARPC4-TTLL3_ENST00000397256.1_Silent_p.I276I|TTLL3_ENST00000426895.4_Silent_p.I358I|TTLL3_ENST00000547186.1_Silent_p.I215I|TTLL3_ENST00000430793.1_Silent_p.I3I|TTLL3_ENST00000455274.1_Silent_p.I3I|TTLL3_ENST00000397241.1_Silent_p.I3I			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													98	452					0	0	1	0	0	T	9862345	C	T	9862345	2	4	22	1	0	0	0	0	0	0	0	1	16790	874	31	1		1	TTLL3	3	9862345	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54719	9862345	188160085	3631	5777											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427853.3_Intron|ARPC4-TTLL3_ENST00000397256.1_Intron|TTLL3_ENST00000426895.4_Silent_p.G705G|TTLL3_ENST00000430793.1_Silent_p.G350G|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000397241.1_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													48	168					0	0	1	0	0	T	9874919	C	T	9874919	2	4	22	1	0	0	0	0	0	0	0	1	16790	784	28	2		2	TTLL3	3	9874919	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12574	9874919	188147511	3632	5778											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498214.1_3'UTR|IL17RC_ENST00000383812.4_Silent_p.E98E|IL17RC_ENST00000403601.3_Silent_p.E98E|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000413608.1_Silent_p.E98E|IL17RC_ENST00000455057.1_Silent_p.E98E	NM_153461.3	NP_703191.1	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													11	50					0	0	1	0	0	A	9960032	G	A	9960032	2	1	22	1	0	0	0	0	0	0	0	1	7685	962	34	2		2	IL17RC	3	9960032	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85113	9960032	188062398	3633	5779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498214.1_3'UTR|IL17RC_ENST00000383812.4_Silent_p.P304P|IL17RC_ENST00000403601.3_Silent_p.P319P|IL17RC_ENST00000416074.2_Silent_p.P175P|IL17RC_ENST00000413608.1_Silent_p.P319P|IL17RC_ENST00000455057.1_Silent_p.P304P	NM_153461.3	NP_703191.1	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													106	434					0	0	1	0	0	A	9970068	G	A	9970068	2	1	22	1	0	0	0	0	0	0	0	1	7685	1132	40	1		1	IL17RC	3	9970068	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10036	9970068	188052362	3634	5780											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498214.1_3'UTR|IL17RC_ENST00000383812.4_Missense_Mutation_p.A439V|IL17RC_ENST00000403601.3_Missense_Mutation_p.A454V|IL17RC_ENST00000416074.2_Missense_Mutation_p.A293V|IL17RC_ENST00000413608.1_Missense_Mutation_p.A454V|IL17RC_ENST00000455057.1_Missense_Mutation_p.A422V	NM_153461.3	NP_703191.1	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													139	612					0	0	1	0	0	T	9972601	C	T	9972601	3	4	22	1	0	0	0	0	1	0	0	0	7685	768	27	1	1636	1	IL17RC	3	9972601	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2533	9972601	188049829	3635	5781											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000452070.1_Missense_Mutation_p.A206T|CRELD1_ENST00000397170.3_Missense_Mutation_p.A206T|CRELD1_ENST00000326434.5_Missense_Mutation_p.A206T	NM_015513.4	NP_056328.2	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													82	347					0	0	1	0	0	A	9982689	G	A	9982689	3	1	22	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	3636	5782											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000452070.1_Missense_Mutation_p.E225D|CRELD1_ENST00000489674.1_3'UTR|CRELD1_ENST00000397170.3_Missense_Mutation_p.E225D|CRELD1_ENST00000326434.5_Missense_Mutation_p.E225D	NM_015513.4	NP_056328.2	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													63	321					1.05635e-38	1.2743e-38	1	1	0	T	9982832	G	T	9982832	3	4	22	1	0	0	0	0	1	0	0	0	3889	991	35	2	697	2	CRELD1	3	9982832	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143	9982832	188039598	3637	5783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	41					0	0	1	0	0	A	9988167	G	A	9988167	3	1	22	1	0	0	0	0	1	0	0	0	12661	971	34	2	259	2	PRRT3	3	9988167	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5335	9988167	188034263	3638	5784											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	306					0	0	1	0	0	A	9991052	G	A	9991052	3	1	22	1	0	0	0	0	1	0	0	0	12661	1232	43	2	2209	2	PRRT3	3	9991052	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2885	9991052	188031378	3639	5785											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000383806.1_Silent_p.Q744Q|FANCD2_ENST00000383807.1_Silent_p.Q744Q|FANCD2_ENST00000419585.1_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				101	455					0	0	1	0	0	A	10107141	G	A	10107141	2	1	22	1	0	0	0	0	0	0	0	1	5698	962	34	2		2	FANCD2	3	10107141	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116089	10107141	187915289	3640	5786											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000383806.1_Nonsense_Mutation_p.R926*|FANCD2_ENST00000383807.1_Nonsense_Mutation_p.R926*|FANCD2_ENST00000419585.1_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				8	303					0	0	1	0	0	T	10116274	C	T	10116274	4	4	22	1	0	0	0	0	0	1	0	0	5698	644	23	1	2886	1	FANCD2	3	10116274	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9133	10116274	187906156	3641	5787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													138	609					5.20384e-49	6.43188e-49	1	1	0	T	10291033	G	T	10291033	3	4	22	1	0	0	0	0	1	0	0	0	15649	971	34	2	151	2	TATDN2	3	10291033	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174759	10291033	187731397	3642	5788											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TATDN2_ENST00000448281.2_Missense_Mutation_p.S490N|RP11-438J1.1_ENST00000450534.1_3'UTR	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													66	270					0	0	1	0	0	A	10312335	G	A	10312335	3	1	22	1	0	0	0	0	1	0	0	0	15649	971	34	2	1479	2	TATDN2	3	10312335	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21302	10312335	187710095	3643	5789											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000350697.3_Missense_Mutation_p.E321K|SEC13_ENST00000337354.4_Missense_Mutation_p.E324K|SEC13_ENST00000397109.3_Missense_Mutation_p.E307K|SEC13_ENST00000397117.1_Intron|SEC13_ENST00000492602.1_Intron			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													88	343					0	0	1	0	0	T	10342953	C	T	10342953	3	4	22	1	0	0	0	0	1	0	0	0	14034	893	31	1	11	1	SEC13	3	10342953	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30618	10342953	187679477	3644	5790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000350697.3_Missense_Mutation_p.P59H|SEC13_ENST00000337354.4_Missense_Mutation_p.P62H|SEC13_ENST00000383801.2_Missense_Mutation_p.P105H|SEC13_ENST00000397109.3_Missense_Mutation_p.P45H			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													81	377					1.26373e-49	1.56379e-49	1	1	0	T	10354403	G	T	10354403	3	4	22	1	0	0	0	0	1	0	0	0	14034	1000	35	2	816	2	SEC13	3	10354403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11450	10354403	187668027	3645	5791											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	255					0	0	1	0	0	A	10400486	G	A	10400486	2	1	22	1	0	0	0	0	0	0	0	1	1139	987	35	2		2	ATP2B2	3	10400486	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46083	10400486	187621944	3646	5792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	343					0	0	1	0	0	A	10401761	G	A	10401761	3	1	22	1	0	0	0	0	1	0	0	0	1139	1145	40	1	2069	1	ATP2B2	3	10401761	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1275	10401761	187620669	3647	5793											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													140	648					1.9399e-66	2.45505e-66	1	1	0	A	10953823	C	A	10953823	3	1	22	1	0	0	0	0	1	0	0	0	14729	680	24	2	966	2	SLC6A11	3	10953823	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	552062	10953823	187068607	3648	5794											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													208	756					0	0	1	0	0	T	10970960	C	T	10970960	3	4	22	1	0	0	0	0	1	0	0	0	14729	759	27	1	1344	1	SLC6A11	3	10970960	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17137	10970960	187051470	3649	5795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	484					2.28585e-32	2.69878e-32	1	1	0	A	10974869	C	A	10974869	2	1	22	1	0	0	0	0	0	0	0	1	14729	668	24	2		2	SLC6A11	3	10974869	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3909	10974869	187047561	3650	5796											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													119	530					0	0	1	0	0	G	10976731	T	G	10976731	3	3	22	1	0	0	0	0	1	0	0	0	14729	1783	62	3	1642	3	SLC6A11	3	10976731	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1862	10976731	187045699	3651	5797											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													135	567					0	0	1	0	0	A	11067953	G	A	11067953	3	1	22	1	0	0	0	0	1	0	0	0	14728	1319	46	2	1016	2	SLC6A1	3	11067953	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91222	11067953	186954477	3652	5798											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446450.2_Missense_Mutation_p.E37K|ATG7_ENST00000469654.2_3'UTR|ATG7_ENST00000354956.5_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													129	674					0	0	1	0	0	A	11340278	G	A	11340278	3	1	22	1	0	0	0	0	1	0	0	0	1100	1059	37	1	111	1	ATG7	3	11340278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	272325	11340278	186682152	3653	5799											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446450.2_Missense_Mutation_p.K48N|ATG7_ENST00000469654.2_3'UTR|ATG7_ENST00000354956.5_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													104	647					8.27256e-43	1.00832e-42	1	1	0	T	11340313	G	T	11340313	3	4	22	1	0	0	0	0	1	0	0	0	1100	991	35	2	146	2	ATG7	3	11340313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35	11340313	186682117	3654	5800											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446450.2_Silent_p.S618S|ATG7_ENST00000354956.5_Silent_p.S671S	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													34	159					0	0	1	0	0	T	11596299	C	T	11596299	2	4	22	1	0	0	0	0	0	0	0	1	1100	767	27	1		1	ATG7	3	11596299	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255986	11596299	186426131	3655	5801											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404339.1_Missense_Mutation_p.D244N|VGLL4_ENST00000430365.2_Missense_Mutation_p.D245N|VGLL4_ENST00000424529.2_Missense_Mutation_p.D155N|VGLL4_ENST00000413604.1_Missense_Mutation_p.D180N	NM_014667.2	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													128	564					0	0	1	0	0	T	11600188	C	T	11600188	3	4	22	1	0	0	0	0	1	0	0	0	17221	884	31	1	161	1	VGLL4	3	11600188	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3889	11600188	186422242	3656	5802											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	148					5.45727e-16	5.98072e-16	1	1	0	A	12203526	C	A	12203526	1	1	22	0	1	0	0	0	0	0	0	0	15498	506	18	2		2	SYN2	3	12203526	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	603338	12203526	185818904	3657	5803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539812.1_Intron|PPARG_ENST00000287820.6_Missense_Mutation_p.R308C|PPARG_ENST00000397012.2_Missense_Mutation_p.R280C|PPARG_ENST00000397015.2_Missense_Mutation_p.R280C|PPARG_ENST00000397000.1_Intron|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"						13	270					0	0	1	0	0	T	12458305	C	T	12458305	3	4	22	1	0	0	0	0	1	0	0	0	12344	652	23	1	944	1	PPARG	3	12458305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	254779	12458305	185564125	3658	5804											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415684.1_Missense_Mutation_p.R344Q|C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000314571.7_Missense_Mutation_p.R344Q|TSEN2_ENST00000284995.6_Missense_Mutation_p.R370Q|TSEN2_ENST00000383797.5_Missense_Mutation_p.R353Q|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													73	351					0	0	1	0	0	A	12570396	G	A	12570396	3	1	22	1	0	0	0	0	1	0	0	0	16673	1116	39	1	1139	1	TSEN2	3	12570396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112091	12570396	185452034	3659	5805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	246					0	0	1	0	0	A	12613662	G	A	12613662	2	1	22	1	0	0	0	0	0	0	0	1	9655	1074	38	1		1	MKRN2	3	12613662	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43266	12613662	185408768	3660	5806											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	215					0	0	1	0	0	T	12616471	C	T	12616471	3	4	22	1	0	0	0	0	1	0	0	0	9655	759	27	1	841	1	MKRN2	3	12616471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2809	12616471	185405959	3661	5807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534997.1_Silent_p.R403R|RAF1_ENST00000442415.2_Silent_p.R638R	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				64	337					6.1719e-39	7.45173e-39	1	1	0	T	12626108	G	T	12626108	2	4	22	1	0	0	0	0	0	0	0	1	13054	1115	39	4		4	RAF1	3	12626108	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9637	12626108	185396322	3662	5808											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	136					7.04047e-22	7.94894e-22	1	1	0	T	12854865	G	T	12854865	3	4	22	1	0	0	0	0	1	0	0	0	2634	991	35	2	1010	2	CAND2	3	12854865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	228757	12854865	185167565	3663	5809											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	304					0	0	1	0	0	T	12856659	C	T	12856659	2	4	22	1	0	0	0	0	0	0	0	1	2634	767	27	1		1	CAND2	3	12856659	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1794	12856659	185165771	3664	5810											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	254					3.09899e-07	3.21319e-07	1	1	0	A	12858054	C	A	12858054	2	1	22	1	0	0	0	0	0	0	0	1	2634	610	22	2		2	CAND2	3	12858054	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1395	12858054	185164376	3665	5811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	406					6.84326e-50	8.47065e-50	1	1	0	T	12875277	G	T	12875277	3	4	22	1	0	0	0	0	1	0	0	0	2634	991	35	2	3565	2	CAND2	3	12875277	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17223	12875277	185147153	3666	5812											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	357					0	0	1	0	0	A	12957129	G	A	12957129	4	1	22	1	0	0	0	0	0	1	0	0	7861	1328	46	2	1301	2	IQSEC1	3	12957129	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81852	12957129	185065301	3667	5813											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	381					0	0	1	0	0	T	12962091	C	T	12962091	3	4	22	1	0	0	0	0	1	0	0	0	7861	768	27	1	1571	1	IQSEC1	3	12962091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4962	12962091	185060339	3668	5814											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	134					0	0	1	0	0	A	12978092	G	A	12978092	3	1	22	1	0	0	0	0	1	0	0	0	7861	1087	38	1	3018	1	IQSEC1	3	12978092	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16001	12978092	185044338	3669	5815											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	302					0	0	1	0	0	A	13361358	G	A	13361358	3	1	22	1	0	0	0	0	1	0	0	0	10808	1174	41	2	391	2	NUP210	3	13361358	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	383266	13361358	184661072	3670	5816											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													190	602					1.35662e-99	1.74458e-99	1	1	0	A	13381381	C	A	13381381	3	1	22	1	0	0	0	0	1	0	0	0	10808	912	32	2	2283	2	NUP210	3	13381381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20023	13381381	184641049	3671	5817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	741					0	0	1	0	0	T	13419017	C	T	13419017	3	4	22	1	0	0	0	0	1	0	0	0	10808	768	27	1	4700	1	NUP210	3	13419017	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37636	13419017	184603413	3672	5818											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	75					0	0	1	0	0	A	13660486	G	A	13660486	2	1	22	1	0	0	0	0	0	0	0	1	5732	1074	38	1		1	FBLN2	3	13660486	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241469	13660486	184361944	3673	5819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	58					0	0	1	0	0	A	13672837	G	A	13672837	3	1	22	1	0	0	0	0	1	0	0	0	5732	1059	37	1	1842	1	FBLN2	3	13672837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12351	13672837	184349593	3674	5820											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	292					0	0	1	0	0	C	14154654	T	C	14154654	2	2	22	1	0	0	0	0	0	0	0	1	3340	1451	51	3		3	CHCHD4	3	14154654	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	481817	14154654	183867776	3675	5821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-434D12.1_ENST00000601399.1_RNA|XPC_ENST00000449060.2_Missense_Mutation_p.S854I|AC093495.4_ENST00000420253.1_RNA	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				35	144					3.11337e-16	3.41587e-16	1	1	0	A	14187592	C	A	14187592	3	1	22	1	0	0	0	0	1	0	0	0	17501	797	28	2	154	2	XPC	3	14187592	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32938	14187592	183834838	3676	5822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				18	191					8.00594e-06	8.21907e-06	1	1	0	T	14190179	G	T	14190179	3	4	22	1	0	0	0	0	1	0	0	0	17501	1000	35	2	535	2	XPC	3	14190179	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2587	14190179	183832251	3677	5823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				32	155					5.04308e-16	5.52873e-16	1	1	0	A	14190224	C	A	14190224	3	1	22	1	0	0	0	0	1	0	0	0	17501	652	23	4	580	4	XPC	3	14190224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45	14190224	183832206	3678	5824											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				21	76					5.49717e-05	5.60444e-05	1	1	0	A	14207064	C	A	14207064	3	1	22	1	0	0	0	0	1	0	0	0	17501	797	28	2	1172	2	XPC	3	14207064	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16840	14207064	183815366	3679	5825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				8	198					0	0	1	0	0	T	14209881	C	T	14209881	5	4	22	1	0	0	0	0	0	0	1	0	17501	927	32	2	1411	2	XPC	3	14209881	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2817	14209881	183812549	3680	5826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000416216.2_Silent_p.G124G|SLC6A6_ENST00000360861.3_Silent_p.G124G|SLC6A6_ENST00000484191.1_3'UTR			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													461	1900					2.83946e-81	3.63311e-81	1	1	0	A	14489097	C	A	14489097	2	1	22	1	0	0	0	0	0	0	0	1	14743	784	28	2		2	SLC6A6	3	14489097	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279216	14489097	183533333	3681	5827											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000416216.2_Missense_Mutation_p.M172I|SLC6A6_ENST00000360861.3_Missense_Mutation_p.M172I|SLC6A6_ENST00000484191.1_3'UTR			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													28	753					0	0	1	0	0	A	14489241	G	A	14489241	3	1	22	1	0	0	0	0	1	0	0	0	14743	1348	47	2	526	2	SLC6A6	3	14489241	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144	14489241	183533189	3682	5828											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	379					2.18907e-53	2.72816e-53	1	1	0	T	14518771	G	T	14518771	3	4	22	1	0	0	0	0	1	0	0	0	14743	1000	35	2	1306	2	SLC6A6	3	14518771	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29530	14518771	183503659	3683	5829											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	346					0	0	1	0	0	A	14518786	G	A	14518786	3	1	22	1	0	0	0	0	1	0	0	0	14743	1116	39	1	1321	1	SLC6A6	3	14518786	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	14518786	183503644	3684	5830											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	367					0	0	1	0	0	T	14518805	C	T	14518805	2	4	22	1	0	0	0	0	0	0	0	1	14743	883	31	1		1	SLC6A6	3	14518805	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	14518805	183503625	3685	5831											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	47					0	0	1	0	0	A	14547207	G	A	14547207	1	1	22	0	1	0	0	0	0	0	0	0	6829	1232	43	2		2	GRIP2	3	14547207	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28402	14547207	183475223	3686	5832											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	64					0	0	1	0	0	T	14548392	C	T	14548392	1	4	22	0	1	0	0	0	0	0	0	0	6829	768	27	1		1	GRIP2	3	14548392	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1185	14548392	183474038	3687	5833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	298					0	0	1	0	0	T	14566999	C	T	14566999	1	4	22	0	1	0	0	0	0	0	0	0	6829	884	31	1		1	GRIP2	3	14566999	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18607	14566999	183455431	3688	5834											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000435614.1_Silent_p.P545P|C3orf20_ENST00000412910.1_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													69	245					0	0	1	0	0	A	14798938	G	A	14798938	2	1	22	1	0	0	0	0	0	0	0	1	2227	1074	38	1		1	C3orf20	3	14798938	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	231939	14798938	183223492	3689	5835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	264					0	0	1	0	0	A	14862336	G	A	14862336	2	1	22	1	0	0	0	0	0	0	0	1	5869	1132	40	1		1	FGD5	3	14862336	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63398	14862336	183160094	3690	5836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15070094C>A	ENST00000425241.1	+	8	1162	c.798_splice	c.e8-1	p.A267_splice	NR2C2_ENST00000406272.2_Splice_Site_p.A267_splice|NR2C2_ENST00000393102.3_Splice_Site_p.A267_splice|NR2C2_ENST00000323373.6_Splice_Site_p.A286_splice|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													8	108					7.48243e-07	7.73841e-07	1	1	0	A	15070094	C	A	15070094	5	1	22	1	0	0	0	0	0	0	1	0	10671	811	28	2	887	2	NR2C2	3	15070094	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207758	15070094	182952336	3691	5837											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	264					1.69475e-38	2.04315e-38	1	1	0	T	15118571	G	T	15118571	3	4	22	1	0	0	0	0	1	0	0	0	17724	1328	46	2	1267	2	ZFYVE20	3	15118571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48477	15118571	182903859	3692	5838											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000435849.3_Missense_Mutation_p.V118A|ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.V118A	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													179	909					0	0	1	0	0	G	15127405	A	G	15127405	3	3	22	1	0	0	0	0	1	0	0	0	17724	43	2	3	2037	3	ZFYVE20	3	15127405	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8834	15127405	182895025	3693	5839											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450816.2_Intron|METTL6_ENST00000383790.3_Missense_Mutation_p.A115S|METTL6_ENST00000383789.5_Missense_Mutation_p.A115S			Q8TCB7	METL6_HUMAN	methyltransferase like 6	115							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TATTCAATGGCTCTTGGAGAA	0.398													95	391					1.76403e-45	2.16332e-45	1	1	0	A	15466479	C	A	15466479	3	1	22	1	0	0	0	0	1	0	0	0	9554	797	28	2	527	2	METTL6	3	15466479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	339074	15466479	182555951	3694	5840											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000482824.1_3'UTR|BTD_ENST00000303498.5_Missense_Mutation_p.E54G|BTD_ENST00000437172.1_Missense_Mutation_p.E56G|BTD_ENST00000449107.1_Missense_Mutation_p.E56G			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													127	537					0	0	1	0	0	G	15677047	A	G	15677047	3	3	22	1	0	0	0	0	1	0	0	0	1553	304	11	3	167	3	BTD	3	15677047	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	210568	15677047	182345383	3695	5841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000303498.5_Missense_Mutation_p.V457A|BTD_ENST00000437172.1_Missense_Mutation_p.V459A|BTD_ENST00000449107.1_Missense_Mutation_p.V459A			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													105	424					0	0	1	0	0	C	15686733	T	C	15686733	3	2	22	1	0	0	0	0	1	0	0	0	1553	1696	59	3	1384	3	BTD	3	15686733	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9686	15686733	182335697	3696	5842											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15756164C>T	ENST00000399451.2	-	9	1274		c.e9-1		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						CATCTTTACTCTGGGGGGGGA	0.363													19	93					0	0	1	0	0	T	15756164	C	T	15756164	5	4	22	1	0	0	0	0	0	0	1	0	652	927	32	2	2335	2	ANKRD28	3	15756164	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69431	15756164	182266266	3697	5843											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000606098.1_Silent_p.E158E|OXNAD1_ENST00000544043.1_Silent_p.E176E|OXNAD1_ENST00000435829.2_Silent_p.E176E|OXNAD1_ENST00000605932.1_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													29	142					0	0	1	0	0	A	16343174	G	A	16343174	2	1	22	1	0	0	0	0	0	0	0	1	11380	1020	36	2		2	OXNAD1	3	16343174	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	587010	16343174	181679256	3698	5844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	271					0	0	1	0	0	T	16419338	C	T	16419338	3	4	22	1	0	0	0	0	1	0	0	0	13310	797	28	2	1047	2	RFTN1	3	16419338	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76164	16419338	181603092	3699	5845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	415					0	0	1	0	0	A	16450939	G	A	16450939	2	1	22	1	0	0	0	0	0	0	0	1	13310	963	34	2		2	RFTN1	3	16450939	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31601	16450939	181571491	3700	5846											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	222					1.21353e-23	1.38083e-23	1	1	0	A	16450991	C	A	16450991	5	1	22	1	0	0	0	0	0	0	1	0	13310	927	32	2	1432	2	RFTN1	3	16450991	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52	16450991	181571439	3701	5847											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396755.2_Missense_Mutation_p.R371H|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_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													70	321					0	0	1	0	0	A	17052328	G	A	17052328	3	1	22	1	0	0	0	0	1	0	0	0	12088	1087	38	1	1490	1	PLCL2	3	17052328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	601337	17052328	180970102	3702	5848											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Silent_p.G703G|TBC1D5_ENST00000429383.4_Silent_p.G681G	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													65	316					1.31726e-23	1.49873e-23	1	1	0	T	17208310	G	T	17208310	2	4	22	1	0	0	0	0	0	0	0	1	15683	1190	42	2		2	TBC1D5	3	17208310	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155982	17208310	180814120	3703	5849											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000414318.2_Intron|TBC1D5_ENST00000446818.2_Missense_Mutation_p.L225I|TBC1D5_ENST00000429924.2_Missense_Mutation_p.L177I|TBC1D5_ENST00000429383.4_Missense_Mutation_p.L225I	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													65	346					4.79706e-38	5.77216e-38	1	1	0	T	17418045	G	T	17418045	3	4	22	1	0	0	0	0	1	0	0	0	15683	933	33	2	1836	2	TBC1D5	3	17418045	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	209735	17418045	180604385	3704	5850											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Nonsense_Mutation_p.E482*|SATB1_ENST00000417717.2_Nonsense_Mutation_p.E482*	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													174	774					2.88683e-70	3.66652e-70	1	1	0	A	18419793	C	A	18419793	4	1	22	1	0	0	0	0	0	1	0	0	13906	835	29	2	859	2	SATB1	3	18419793	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1001748	18419793	179602637	3705	5851											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Silent_p.H186H|SATB1_ENST00000475083.1_5'UTR|SATB1_ENST00000417717.2_Silent_p.H186H	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													27	332					0	0	1	0	0	A	18456684	G	A	18456684	2	1	22	1	0	0	0	0	0	0	0	1	13906	1368	48	2		2	SATB1	3	18456684	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36891	18456684	179565746	3706	5852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.V140F|SATB1_ENST00000475083.1_5'UTR|SATB1_ENST00000417717.2_Missense_Mutation_p.V140F	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													76	310					1.14856e-27	1.3317e-27	1	1	0	A	18457596	C	A	18457596	3	1	22	1	0	0	0	0	1	0	0	0	13906	565	20	2	1905	2	SATB1	3	18457596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	912	18457596	179564834	3707	5853											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000493952.2_Missense_Mutation_p.N36S|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.N36S|SATB1_ENST00000417717.2_Missense_Mutation_p.N36S	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													143	654					0	0	1	0	0	C	18462353	T	C	18462353	3	2	22	1	0	0	0	0	1	0	0	0	13906	1725	60	3	2224	3	SATB1	3	18462353	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4757	18462353	179560077	3708	5854											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	498					0	0	1	0	0	A	19389273	G	A	19389273	2	1	22	1	0	0	0	0	0	0	0	1	8082	1020	36	2		2	KCNH8	3	19389273	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	926920	19389273	178633157	3709	5855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	64					0	0	1	0	0	G	19924048	T	G	19924048	3	3	22	1	0	0	0	0	1	0	0	0	4971	1606	56	3	187	3	EFHB	3	19924048	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	534775	19924048	178098382	3710	5856											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	146					0	0	1	0	0	A	19925921	G	A	19925921	3	1	22	1	0	0	0	0	1	0	0	0	4971	1319	46	2	393	2	EFHB	3	19925921	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1873	19925921	178096509	3711	5857											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	381					1.11718e-16	1.22894e-16	1	1	0	T	20167396	G	T	20167396	5	4	22	1	0	0	0	0	0	0	1	0	8026	956	33	2	1451	2	KAT2B	3	20167396	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241475	20167396	177855034	3712	5858											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	297					0	0	1	0	0	A	20169002	G	A	20169002	2	1	22	1	0	0	0	0	0	0	0	1	8026	933	33	2		2	KAT2B	3	20169002	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1606	20169002	177853428	3713	5859											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	149					0	0	1	0	0	A	21462771	G	A	21462771	3	1	22	1	0	0	0	0	1	0	0	0	17935	1029	36	2	68	2	ZNF385D	3	21462771	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1293769	21462771	176559659	3714	5860											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	150					0	0	1	0	0	A	21462878	G	A	21462878	3	1	22	1	0	0	0	0	1	0	0	0	17935	1000	35	2	175	2	ZNF385D	3	21462878	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107	21462878	176559552	3715	5861											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	528					0	0	1	0	0	T	21467002	C	T	21467002	2	4	22	1	0	0	0	0	0	0	0	1	17935	639	23	1		1	ZNF385D	3	21467002	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4124	21467002	176555428	3716	5862											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	411					5.68823e-23	6.45521e-23	1	1	0	T	21478500	G	T	21478500	3	4	22	1	0	0	0	0	1	0	0	0	17935	971	34	2	568	2	ZNF385D	3	21478500	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11498	21478500	176543930	3717	5863											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424381.1_Missense_Mutation_p.A159T|UBE2E1_ENST00000475680.1_3'UTR|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													30	152					0	0	1	0	0	A	23932089	G	A	23932089	3	1	22	1	0	0	0	0	1	0	0	0	16913	1087	38	1	592	1	UBE2E1	3	23932089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2453589	23932089	174090341	3718	5864											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_005117.3	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													34	157					0	0	1	0	0	A	24003495	G	A	24003495	3	1	22	1	0	0	0	0	1	0	0	0	10664	1145	40	1	563	1	NR1D2	3	24003495	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71406	24003495	174018935	3719	5865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	695					3.90053e-15	4.25374e-15	1	1	0	A	24231596	C	A	24231596	3	1	22	1	0	0	0	0	1	0	0	0	15935	912	32	2	1161	2	THRB	3	24231596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	228101	24231596	173790834	3720	5866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404969.1_Missense_Mutation_p.S67R|RARB_ENST00000437042.2_5'UTR|RARB_ENST00000458646.1_5'UTR|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													67	356					2.72615e-36	3.26283e-36	1	1	0	A	25502706	C	A	25502706	3	1	22	1	0	0	0	0	1	0	0	0	13105	796	28	2	186	2	RARB	3	25502706	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1271110	25502706	172519724	3721	5867											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	99					0	0	1	0	0	T	25660243	C	T	25660243	3	4	22	1	0	0	0	0	1	0	0	0	16427	536	19	1	1771	1	TOP2B	3	25660243	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157537	25660243	172362187	3722	5868											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	58					0	0	1	0	0	A	25668286	G	A	25668286	3	1	22	1	0	0	0	0	1	0	0	0	16427	1087	38	1	2874	1	TOP2B	3	25668286	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8043	25668286	172354144	3723	5869											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	109					0	0	1	0	0	G	25672321	A	G	25672321	3	3	22	1	0	0	0	0	1	0	0	0	16427	101	4	3	3608	3	TOP2B	3	25672321	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4035	25672321	172350109	3724	5870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422724.2_3'UTR|NGLY1_ENST00000417874.2_Missense_Mutation_p.D597G|NGLY1_ENST00000396649.3_3'UTR|NGLY1_ENST00000280700.5_Missense_Mutation_p.D639G|NGLY1_ENST00000467224.1_5'UTR	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													63	255					0	0	1	0	0	C	25761000	T	C	25761000	3	2	22	1	0	0	0	0	1	0	0	0	10445	1667	58	3	52	3	NGLY1	3	25761000	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88679	25761000	172261430	3725	5871											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341435.5_Missense_Mutation_p.V671I|NEK10_ENST00000357467.2_Missense_Mutation_p.V68I			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													35	220					0	0	1	0	0	T	27326096	C	T	27326096	3	4	22	1	0	0	0	0	1	0	0	0	10369	536	19	1	139	1	NEK10	3	27326096	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1565096	27326096	170696334	3726	5872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341435.5_Nonsense_Mutation_p.E621*|NEK10_ENST00000357467.2_Nonsense_Mutation_p.E18*			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													79	298					6.14238e-36	7.34322e-36	1	1	0	A	27326381	C	A	27326381	4	1	22	1	0	0	0	0	0	1	0	0	10369	864	30	2	293	2	NEK10	3	27326381	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	285	27326381	170696049	3727	5873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000383767.2_Missense_Mutation_p.M151R|RBMS3_ENST00000383766.2_Missense_Mutation_p.M150R|RBMS3_ENST00000445033.1_Missense_Mutation_p.M151R|RBMS3_ENST00000396583.3_Missense_Mutation_p.M151R|RBMS3_ENST00000452462.1_Missense_Mutation_p.M151R|RBMS3_ENST00000456853.1_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													173	607					0	0	1	0	0	G	29781263	T	G	29781263	3	3	22	1	0	0	0	0	1	0	0	0	13202	1464	51	3	470	3	RBMS3	3	29781263	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2454882	29781263	168241167	3728	5874											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													163	799					0	0	1	0	0	C	30713754	A	C	30713754	3	2	22	1	0	0	0	0	1	0	0	0	15882	159	6	3	1172	3	TGFBR2	3	30713754	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	932491	30713754	167308676	3729	5875											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	320					0	0	1	0	0	A	30729950	G	A	30729950	3	1	22	1	0	0	0	0	1	0	0	0	15882	1145	40	1	1572	1	TGFBR2	3	30729950	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16196	30729950	167292480	3730	5876											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	335					0	0	1	0	0	A	30732970	G	A	30732970	3	1	22	1	0	0	0	0	1	0	0	0	15882	1145	40	1	1688	1	TGFBR2	3	30732970	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3020	30732970	167289460	3731	5877											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	205					0	0	1	0	0	T	31918002	C	T	31918002	3	4	22	1	0	0	0	0	1	0	0	0	11322	710	25	2	1874	2	OSBPL10	3	31918002	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1185032	31918002	166104428	3732	5878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	611					0	0	1	0	0	A	32483422	G	A	32483422	3	1	22	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	565420	32483422	165539008	3733	5879											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	88					0	0	1	0	0	C	32571040	T	C	32571040	3	2	22	1	0	0	0	0	1	0	0	0	4870	1725	60	3	285	3	DYNC1LI1	3	32571040	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	87618	32571040	165451390	3734	5880											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32572011A>G	ENST00000273130.4	-	9	1185	c.1080_splice	c.e9-1	p.F361_splice	DYNC1LI1_ENST00000432458.2_Splice_Site_p.F245_splice	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													60	226					0	0	1	0	0	G	32572011	A	G	32572011	5	3	22	1	0	0	0	0	0	0	1	0	4870	28	1	3	509	3	DYNC1LI1	3	32572011	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	971	32572011	165450419	3735	5881											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	156					2.65835e-16	2.91905e-16	1	1	0	A	32574558	C	A	32574558	4	1	22	1	0	0	0	0	0	1	0	0	4870	690	24	2	595	2	DYNC1LI1	3	32574558	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2547	32574558	165447872	3736	5882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538368.1_Missense_Mutation_p.V197A|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000454516.2_Missense_Mutation_p.V485A|CNOT10_ENST00000331889.6_Missense_Mutation_p.V425A	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													32	155					0	0	1	0	0	C	32774973	T	C	32774973	3	2	22	1	0	0	0	0	1	0	0	0	3641	1725	60	3	1316	3	CNOT10	3	32774973	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	200415	32774973	165247457	3737	5883											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32860298G>A	ENST00000383763.4	+	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	242					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													44	208					0	0	1	0	0	A	32860298	G	A	32860298	2	1	22	1	0	0	0	0	0	0	0	1	16605	1074	38	1		1	TRIM71	3	32860298	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85325	32860298	165162132	3738	5884											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													149	629					0	0	1	0	0	T	32995192	C	T	32995192	3	4	22	1	0	0	0	0	1	0	0	0	2965	681	24	2	280	2	CCR4	3	32995192	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134894	32995192	165027238	3739	5885											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	413					0.000151284	0.000153739	1	1	0	A	32995580	C	A	32995580	4	1	22	1	0	0	0	0	0	1	0	0	2965	576	20	2	668	2	CCR4	3	32995580	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	388	32995580	165026850	3740	5886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33099761C>A	ENST00000307363.5	-	6	697	c.552_splice	c.e6-1	p.V185_splice	GLB1_ENST00000399402.3_Splice_Site_p.V155_splice|GLB1_ENST00000445488.2_Splice_Site_p.V233_splice|GLB1_ENST00000307377.8_Intron	NM_000404.2	NP_000395.2	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													30	125					5.91797e-21	6.65236e-21	1	1	0	A	33099761	C	A	33099761	5	1	22	1	0	0	0	0	0	0	1	0	6469	521	18	2	1524	2	GLB1	3	33099761	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104181	33099761	164922669	3741	5887											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000307363.5_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000307377.8_Intron|TMPPE_ENST00000416695.2_Missense_Mutation_p.G291C	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													5	188					1.23904e-05	1.26975e-05	1	1	0	A	33134406	C	A	33134406	3	1	22	1	0	0	0	0	1	0	0	0	16298	681	24	2	83	2	TMPPE	3	33134406	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34645	33134406	164888024	3742	5888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542085.1_Splice_Site|FBXL2_ENST00000538892.1_Splice_Site|FBXL2_ENST00000538181.1_Splice_Site|FBXL2_ENST00000507198.1_Splice_Site|FBXL2_ENST00000283627.6_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													63	229					0	0	1	0	0	A	33415414	G	A	33415414	5	1	22	1	0	0	0	0	0	0	1	0	5749	1043	36	2	692	2	FBXL2	3	33415414	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	281008	33415414	164607016	3743	5889											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542085.1_Intron|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000283627.6_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													34	118					2.49534e-26	2.87403e-26	1	1	0	T	33420310	G	T	33420310	3	4	22	1	0	0	0	0	1	0	0	0	5749	1247	43	2		2	FBXL2	3	33420310	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4896	33420310	164602120	3744	5890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000283628.5_Silent_p.A319A|UBP1_ENST00000447368.2_Silent_p.A283A|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													8	84					0	0	1	0	0	A	33444367	G	A	33444367	2	1	22	1	0	0	0	0	0	0	0	1	16956	987	35	2		2	UBP1	3	33444367	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24057	33444367	164578063	3745	5891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000283628.5_Nonsense_Mutation_p.G156*|UBP1_ENST00000447368.2_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													89	463					5.42582e-32	6.39997e-32	1	1	0	A	33453162	C	A	33453162	4	1	22	1	0	0	0	0	0	1	0	0	16956	632	22	2	1204	2	UBP1	3	33453162	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8795	33453162	164569268	3746	5892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539981.1_Silent_p.S544S|CLASP2_ENST00000461133.3_Silent_p.S541S|CLASP2_ENST00000480013.1_Silent_p.S541S|CLASP2_ENST00000307312.7_Silent_p.S263S|CLASP2_ENST00000468888.2_Silent_p.S775S|CLASP2_ENST00000359576.5_Silent_p.S774S	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													22	78					0	0	1	0	0	G	33623338	A	G	33623338	2	3	22	1	0	0	0	0	0	0	0	1	3478	272	10	3		3	CLASP2	3	33623338	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	170176	33623338	164399092	3747	5893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	221					5.73376e-24	6.5387e-24	1	1	0	T	33885712	G	T	33885712	3	4	22	1	0	0	0	0	1	0	0	0	11671	971	34	2	1525	2	PDCD6IP	3	33885712	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262374	33885712	164136718	3748	5894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000444190.1_Nonsense_Mutation_p.R254*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.R254*|ARPP21_ENST00000337271.5_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													16	416					0	0	1	0	0	T	35748539	C	T	35748539	4	4	22	1	0	0	0	0	0	1	0	0	977	760	27	1	803	1	ARPP21	3	35748539	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1862827	35748539	162273891	3749	5895											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	202					1.22119e-34	1.45331e-34	1	1	0	A	36757013	C	A	36757013	5	1	22	1	0	0	0	0	0	0	1	0	4316	811	28	2	197	2	DCLK3	3	36757013	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1008474	36757013	161265417	3750	5896											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36872371C>A	ENST00000429976.2	-	21	8818	c.8571G>T	c.(8569-8571)tgG>tgT	p.W2857C	TRANK1_ENST00000428977.2_Missense_Mutation_p.W2307C|TRANK1_ENST00000301807.6_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													56	207					8.44121e-28	9.79253e-28	1	1	0	A	36872371	C	A	36872371	3	1	22	1	0	0	0	0	1	0	0	0	16515	624	22	2	218	2	TRANK1	3	36872371	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115358	36872371	161150059	3751	5897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36876271G>T	ENST00000429976.2	-	20	5760	c.5513C>A	c.(5512-5514)gCt>gAt	p.A1838D	TRANK1_ENST00000428977.2_Missense_Mutation_p.A1288D|TRANK1_ENST00000301807.6_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													77	233					5.42381e-49	6.70277e-49	1	1	0	T	36876271	G	T	36876271	3	4	22	1	0	0	0	0	1	0	0	0	16515	971	34	2	3280	2	TRANK1	3	36876271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3900	36876271	161146159	3752	5898											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36897035C>A	ENST00000429976.2	-	12	4293	c.4046G>T	c.(4045-4047)aGc>aTc	p.S1349I	TRANK1_ENST00000428977.2_Missense_Mutation_p.S799I|TRANK1_ENST00000301807.6_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													115	543					4.16533e-50	5.15817e-50	1	1	0	A	36897035	C	A	36897035	3	1	22	1	0	0	0	0	1	0	0	0	16515	797	28	2	4779	2	TRANK1	3	36897035	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20764	36897035	161125395	3753	5899											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36897105C>T	ENST00000429976.2	-	12	4223	c.3976G>A	c.(3976-3978)Gaa>Aaa	p.E1326K	TRANK1_ENST00000428977.2_Missense_Mutation_p.E776K|TRANK1_ENST00000301807.6_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													19	588					0	0	1	0	0	T	36897105	C	T	36897105	3	4	22	1	0	0	0	0	1	0	0	0	16515	835	29	2	4849	2	TRANK1	3	36897105	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70	36897105	161125325	3754	5900											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36897987C>T	ENST00000429976.2	-	12	3341	c.3094G>A	c.(3094-3096)Ggg>Agg	p.G1032R	TRANK1_ENST00000428977.2_Missense_Mutation_p.G482R|TRANK1_ENST00000301807.6_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													83	335					0	0	1	0	0	T	36897987	C	T	36897987	3	4	22	1	0	0	0	0	1	0	0	0	16515	594	21	2	5731	2	TRANK1	3	36897987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	882	36897987	161124443	3755	5901											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	328					0	0	1	0	0	T	37033662	C	T	37033662	3	4	22	1	0	0	0	0	1	0	0	0	5212	893	31	1	920	1	EPM2AIP1	3	37033662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135675	37033662	160988768	3756	5902											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539477.1_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000435176.1_Missense_Mutation_p.I92T|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000458205.2_5'UTR	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				243	852					0	0	1	0	0	C	37053334	T	C	37053334	3	2	22	1	0	0	0	0	1	0	0	0	9665	1493	52	3	595	3	MLH1	3	37053334	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19672	37053334	160969096	3757	5903											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	645					0	0	1	0	0	T	38047333	C	T	38047333	2	4	22	1	0	0	0	0	0	0	0	1	17225	668	24	2		2	VILL	3	38047333	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	993999	38047333	159975097	3758	5904											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	392					0	0	1	0	0	T	38048048	C	T	38048048	4	4	22	1	0	0	0	0	0	1	0	0	17225	760	27	1	2384	1	VILL	3	38048048	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	715	38048048	159974382	3759	5905											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	219					0	0	1	0	0	A	38050075	G	A	38050075	2	1	22	1	0	0	0	0	0	0	0	1	12079	958	34	2		2	PLCD1	3	38050075	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2027	38050075	159972355	3760	5906											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000452631.2_Missense_Mutation_p.D383E|DLEC1_ENST00000469151.1_3'UTR|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													137	596					0	0	1	0	0	A	38105386	T	A	38105386	3	1	22	1	0	0	0	0	1	0	0	0	4580	1490	52	5	1171	5	DLEC1	3	38105386	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	55311	38105386	159917044	3761	5907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	267					2.98393e-07	3.0958e-07	1	1	0	T	38139062	G	T	38139062	3	4	22	1	0	0	0	0	1	0	0	0	4580	991	35	2	2565	2	DLEC1	3	38139062	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33676	38139062	159883368	3762	5908											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	396					0	0	1	0	0	A	38141888	G	A	38141888	3	1	22	1	0	0	0	0	1	0	0	0	4580	1175	41	2	2910	2	DLEC1	3	38141888	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2826	38141888	159880542	3763	5909											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	385					0	0	1	0	0	C	38158136	A	C	38158136	3	2	22	1	0	0	0	0	1	0	0	0	4580	246	9	3	4159	3	DLEC1	3	38158136	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16248	38158136	159864294	3764	5910											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	230					0	0	1	0	0	A	38163660	G	A	38163660	3	1	22	1	0	0	0	0	1	0	0	0	4580	1087	38	1	5261	1	DLEC1	3	38163660	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5524	38163660	159858770	3765	5911											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544624.1_5'UTR|ACAA1_ENST00000444607.2_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000450296.1_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000301810.7_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													61	230					0	0	1	0	0	A	38175489	G	A	38175489	4	1	22	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	3766	5912											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													230	941					0	0	1	0	0	G	38292919	A	G	38292919	2	3	22	1	0	0	0	0	0	0	0	1	11383	40	2	3		3	OXSR1	3	38292919	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	117430	38292919	159729511	3767	5913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	261					0	0	1	0	0	A	38408309	G	A	38408309	3	1	22	1	0	0	0	0	1	0	0	0	17522	1232	43	2	544	2	XYLB	3	38408309	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115390	38408309	159614121	3768	5914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38524754G>A	ENST00000352511.3	+	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	490					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													111	434					0	0	1	0	0	A	38524754	G	A	38524754	2	1	22	1	0	0	0	0	0	0	0	1	223	1103	39	1		1	ACVR2B	3	38524754	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116445	38524754	159497676	3769	5915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38595864G>A	ENST00000455624.2	-	26	4739		c.e26+1		SCN5A_ENST00000443581.1_Silent_p.G1572G|SCN5A_ENST00000333535.4_Silent_p.G1573G|SCN5A_ENST00000423572.2_Silent_p.G1572G|SCN5A_ENST00000425664.1_Silent_p.G1555G|SCN5A_ENST00000413689.1_Silent_p.G1573G|SCN5A_ENST00000414099.2_Silent_p.G1555G|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000451551.2_Silent_p.G1519G|SCN5A_ENST00000450102.2_Silent_p.G1519G|SCN5A_ENST00000449557.2_Silent_p.G1519G			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													77	323					0	0	1	0	0	A	38595864	G	A	38595864	5	1	22	1	0	0	0	0	0	0	1	0	13976	1101	38	1	1339	1	SCN5A	3	38595864	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71110	38595864	159426566	3770	5916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443581.1_Missense_Mutation_p.T1303M|SCN5A_ENST00000333535.4_Missense_Mutation_p.T1304M|SCN5A_ENST00000423572.2_Missense_Mutation_p.T1303M|SCN5A_ENST00000425664.1_Missense_Mutation_p.T1304M|SCN5A_ENST00000455624.2_Missense_Mutation_p.T1303M|SCN5A_ENST00000414099.2_Missense_Mutation_p.T1304M|SCN5A_ENST00000451551.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000450102.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1250M	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													17	108					0	0	1	0	0	A	38603958	G	A	38603958	3	1	22	1	0	0	0	0	1	0	0	0	13976	1145	40	1	2167	1	SCN5A	3	38603958	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8094	38603958	159418472	3771	5917											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443581.1_Missense_Mutation_p.L1221M|SCN5A_ENST00000333535.4_Missense_Mutation_p.L1222M|SCN5A_ENST00000423572.2_Missense_Mutation_p.L1221M|SCN5A_ENST00000425664.1_Missense_Mutation_p.L1222M|SCN5A_ENST00000455624.2_Missense_Mutation_p.L1221M|SCN5A_ENST00000414099.2_Missense_Mutation_p.L1222M|SCN5A_ENST00000451551.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000450102.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000449557.2_Missense_Mutation_p.L1168M	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													12	66					6.72482e-11	7.15107e-11	1	1	0	T	38616790	G	T	38616790	3	4	22	1	0	0	0	0	1	0	0	0	13976	962	34	2	2422	2	SCN5A	3	38616790	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12832	38616790	159405640	3772	5918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443581.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1027W|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000449557.2_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													40	133					0	0	1	0	0	A	38622571	G	A	38622571	3	1	22	1	0	0	0	0	1	0	0	0	13976	1144	40	1	3019	1	SCN5A	3	38622571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5781	38622571	159399859	3773	5919											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443581.1_Missense_Mutation_p.A949V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A949V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A949V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A949V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A949V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A949V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A949V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A949V|SCN5A_ENST00000449557.2_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													31	90					0	0	1	0	0	A	38622804	G	A	38622804	3	1	22	1	0	0	0	0	1	0	0	0	13976	1203	42	2	3252	2	SCN5A	3	38622804	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	233	38622804	159399626	3774	5920											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443581.1_Silent_p.L702L|SCN5A_ENST00000333535.4_Silent_p.L702L|SCN5A_ENST00000423572.2_Silent_p.L702L|SCN5A_ENST00000425664.1_Silent_p.L702L|SCN5A_ENST00000455624.2_Silent_p.L702L|SCN5A_ENST00000414099.2_Silent_p.L702L|SCN5A_ENST00000451551.2_Silent_p.L702L|SCN5A_ENST00000450102.2_Silent_p.L702L|SCN5A_ENST00000449557.2_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													12	469					0	0	1	0	0	A	38639378	G	A	38639378	2	1	22	1	0	0	0	0	0	0	0	1	13976	962	34	2		2	SCN5A	3	38639378	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16574	38639378	159383052	3775	5921											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443581.1_Missense_Mutation_p.A611V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A611V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A611V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A611V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A611V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A611V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A611V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A611V|SCN5A_ENST00000449557.2_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													7	390					0	0	1	0	0	A	38645261	G	A	38645261	3	1	22	1	0	0	0	0	1	0	0	0	13976	1203	42	2	4286	2	SCN5A	3	38645261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5883	38645261	159377169	3776	5922											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443581.1_Silent_p.V412V|SCN5A_ENST00000333535.4_Silent_p.V412V|SCN5A_ENST00000423572.2_Silent_p.V412V|SCN5A_ENST00000425664.1_Silent_p.V412V|SCN5A_ENST00000455624.2_Silent_p.V412V|SCN5A_ENST00000414099.2_Silent_p.V412V|SCN5A_ENST00000451551.2_Silent_p.V412V|SCN5A_ENST00000450102.2_Silent_p.V412V|SCN5A_ENST00000449557.2_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													75	235					0	0	1	0	0	A	38647544	G	A	38647544	2	1	22	1	0	0	0	0	0	0	0	1	13976	1045	37	1		1	SCN5A	3	38647544	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2283	38647544	159374886	3777	5923											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													150	602					0	0	1	0	0	A	38739804	G	A	38739804	3	1	22	1	0	0	0	0	1	0	0	0	13966	971	34	2	967	2	SCN10A	3	38739804	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92260	38739804	159282626	3778	5924											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	611					0	0	1	0	0	T	38739966	C	T	38739966	3	4	22	1	0	0	0	0	1	0	0	0	13966	768	27	1	1129	1	SCN10A	3	38739966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	162	38739966	159282464	3779	5925											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	103					0	0	1	0	0	A	38752374	G	A	38752374	2	1	22	1	0	0	0	0	0	0	0	1	13966	958	34	2		2	SCN10A	3	38752374	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12408	38752374	159270056	3780	5926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	461					0	0	1	0	0	T	38753722	C	T	38753722	3	4	22	1	0	0	0	0	1	0	0	0	13966	797	28	2	1875	2	SCN10A	3	38753722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1348	38753722	159268708	3781	5927											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	488					0	0	1	0	0	T	38763851	C	T	38763851	4	4	22	1	0	0	0	0	0	1	0	0	13966	624	22	2	2501	2	SCN10A	3	38763851	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10129	38763851	159258579	3782	5928											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	214					3.76525e-18	4.17087e-18	1	1	0	A	38768102	C	A	38768102	4	1	22	1	0	0	0	0	0	1	0	0	13966	690	24	2	2836	2	SCN10A	3	38768102	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4251	38768102	159254328	3783	5929											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	649					0	0	1	0	0	T	38768406	C	T	38768406	2	4	22	1	0	0	0	0	0	0	0	1	13966	680	24	2		2	SCN10A	3	38768406	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	304	38768406	159254024	3784	5930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	277					0	0	1	0	0	G	38770385	A	G	38770385	3	3	22	1	0	0	0	0	1	0	0	0	13966	391	14	3	3634	3	SCN10A	3	38770385	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1979	38770385	159252045	3785	5931											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	205					0	0	1	0	0	T	38781010	C	T	38781010	3	4	22	1	0	0	0	0	1	0	0	0	13966	768	27	1	3650	1	SCN10A	3	38781010	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10625	38781010	159241420	3786	5932											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	233					0	0	1	0	0	T	38781150	C	T	38781150	3	4	22	1	0	0	0	0	1	0	0	0	13966	594	21	2	3790	2	SCN10A	3	38781150	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140	38781150	159241280	3787	5933											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	349					0	0	1	0	0	T	38793718	C	T	38793718	3	4	22	1	0	0	0	0	1	0	0	0	13966	884	31	1	4191	1	SCN10A	3	38793718	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12568	38793718	159228712	3788	5934											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	736					0	0	1	0	0	C	38798295	T	C	38798295	3	2	22	1	0	0	0	0	1	0	0	0	13966	1638	57	3	4786	3	SCN10A	3	38798295	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4577	38798295	159224135	3789	5935											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38888777A>G	ENST00000450244.1	-	26	4982	c.4784T>C	c.(4783-4785)gTt>gCt	p.V1595A	SCN11A_ENST00000456224.3_Missense_Mutation_p.V1557A|SCN11A_ENST00000302328.3_Missense_Mutation_p.V1595A			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													101	388					0	0	1	0	0	G	38888777	A	G	38888777	3	3	22	1	0	0	0	0	1	0	0	0	13967	43	2	3	595	3	SCN11A	3	38888777	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	90482	38888777	159133653	3790	5936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38962576C>T	ENST00000450244.1	-	6	1081	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	SCN11A_ENST00000456224.3_Missense_Mutation_p.E295K|SCN11A_ENST00000302328.3_Missense_Mutation_p.E295K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E295K			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													292	1324					0	0	1	0	0	T	38962576	C	T	38962576	3	4	22	1	0	0	0	0	1	0	0	0	13967	864	30	2	4576	2	SCN11A	3	38962576	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73799	38962576	159059854	3791	5937											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.L121I|WDR48_ENST00000544962.1_Intron	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													86	418					1.41219e-46	1.73556e-46	1	1	0	A	39111170	C	A	39111170	3	1	22	1	0	0	0	0	1	0	0	0	17361	564	20	2	633	2	WDR48	3	39111170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148594	39111170	158911260	3792	5938											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.T151A|WDR48_ENST00000544962.1_Missense_Mutation_p.T25A	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													59	269					0	0	1	0	0	G	39116241	A	G	39116241	3	3	22	1	0	0	0	0	1	0	0	0	17361	275	10	3	727	3	WDR48	3	39116241	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5071	39116241	158906189	3793	5939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.S354R|WDR48_ENST00000544962.1_Missense_Mutation_p.S161R	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													65	255					0	0	1	0	0	G	39126162	T	G	39126162	3	3	22	1	0	0	0	0	1	0	0	0	17361	1693	59	3	1358	3	WDR48	3	39126162	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9921	39126162	158896268	3794	5940											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431162.2_Silent_p.A679A|TTC21A_ENST00000440121.1_Silent_p.A631A	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													64	317					0	0	1	0	0	A	39170682	G	A	39170682	2	1	22	1	0	0	0	0	0	0	0	1	16749	1074	38	1		1	TTC21A	3	39170682	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44520	39170682	158851748	3795	5941											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431162.2_Silent_p.N1077N|TTC21A_ENST00000440121.1_Silent_p.N1029N|TTC21A_ENST00000493856.1_3'UTR	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													29	247					0	0	1	0	0	T	39178504	C	T	39178504	2	4	22	1	0	0	0	0	0	0	0	1	16749	535	19	1		1	TTC21A	3	39178504	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7822	39178504	158843926	3796	5942											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	240					0	0	1	0	0	T	39186588	C	T	39186588	3	4	22	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	3797	5943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.P339H	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													19	460					5.3912e-06	5.54037e-06	1	1	0	T	39225970	G	T	39225970	3	4	22	1	0	0	0	0	1	0	0	0	17489	1000	35	2	568	2	XIRP1	3	39225970	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39382	39225970	158796460	3798	5944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396251.1_Silent_p.R678R|XIRP1_ENST00000421646.1_Intron	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													68	281					0	0	1	0	0	T	39228903	C	T	39228903	2	4	22	1	0	0	0	0	0	0	0	1	17489	726	26	2		2	XIRP1	3	39228903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2933	39228903	158793527	3799	5945											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396251.1_Silent_p.L459L|XIRP1_ENST00000421646.1_Intron	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													245	1082					0	0	1	0	0	A	39229562	G	A	39229562	2	1	22	1	0	0	0	0	0	0	0	1	17489	933	33	2		2	XIRP1	3	39229562	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	659	39229562	158792868	3800	5946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396251.1_Nonsense_Mutation_p.R404*|XIRP1_ENST00000421646.1_Intron	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													51	1155					0	0	1	0	0	A	39229727	G	A	39229727	4	1	22	1	0	0	0	0	0	1	0	0	17489	1095	38	1	4325	1	XIRP1	3	39229727	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165	39229727	158792703	3801	5947											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396251.1_Missense_Mutation_p.P112S|XIRP1_ENST00000421646.1_Intron	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													78	317					0	0	1	0	0	A	39230603	G	A	39230603	3	1	22	1	0	0	0	0	1	0	0	0	17489	1203	42	2	5201	2	XIRP1	3	39230603	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	876	39230603	158791827	3802	5948											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	470					1.06801e-11	1.14091e-11	1	1	0	T	39450202	G	T	39450202	3	4	22	1	0	0	0	0	1	0	0	0	13715	1000	35	2	245	2	RPSA	3	39450202	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219599	39450202	158572228	3803	5949											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000444716.1_Missense_Mutation_p.S314L|MYRIP_ENST00000396217.3_Missense_Mutation_p.S225L|MYRIP_ENST00000425621.1_Missense_Mutation_p.S314L|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.S127L	NM_015460.2	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													91	393					0	0	1	0	0	T	40223778	C	T	40223778	3	4	22	1	0	0	0	0	1	0	0	0	10148	893	31	1	971	1	MYRIP	3	40223778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	773576	40223778	157798652	3804	5950											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000444716.1_Missense_Mutation_p.P421L|MYRIP_ENST00000396217.3_Missense_Mutation_p.P332L|MYRIP_ENST00000425621.1_Missense_Mutation_p.P421L|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.P234L	NM_015460.2	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													11	566					0	0	1	0	0	T	40231551	C	T	40231551	3	4	22	1	0	0	0	0	1	0	0	0	10148	623	22	2	1296	2	MYRIP	3	40231551	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7773	40231551	157790879	3805	5951											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000444716.1_Missense_Mutation_p.R570Q|MYRIP_ENST00000396217.3_Missense_Mutation_p.R481Q|MYRIP_ENST00000425621.1_Missense_Mutation_p.R570Q|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.R383Q	NM_015460.2	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													75	367					0	0	1	0	0	A	40251388	G	A	40251388	3	1	22	1	0	0	0	0	1	0	0	0	10148	1116	39	1	1747	1	MYRIP	3	40251388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19837	40251388	157771042	3806	5952											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000444716.1_Nonsense_Mutation_p.G662*|MYRIP_ENST00000396217.3_Nonsense_Mutation_p.G573*|MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Nonsense_Mutation_p.G475*	NM_015460.2	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													32	284					2.81731e-10	2.98404e-10	1	1	0	T	40275428	G	T	40275428	4	4	22	1	0	0	0	0	0	1	0	0	10148	1001	35	2	2026	2	MYRIP	3	40275428	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24040	40275428	157747002	3807	5953											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000456778.1_Intron|ZNF619_ENST00000522736.1_5'UTR|ZNF619_ENST00000429348.2_Missense_Mutation_p.A26V|ZNF619_ENST00000520737.1_Intron|ZNF619_ENST00000314686.5_5'UTR|ZNF619_ENST00000521353.1_Missense_Mutation_p.A26V|ZNF619_ENST00000432264.2_Missense_Mutation_p.A26V	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													25	743					0	0	1	0	0	T	40523406	C	T	40523406	3	4	22	1	0	0	0	0	1	0	0	0	18100	797	28	2	105	2	ZNF619	3	40523406	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	247978	40523406	157499024	3808	5954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000456778.1_Missense_Mutation_p.D24Y|ZNF619_ENST00000522736.1_Missense_Mutation_p.R35I|ZNF619_ENST00000429348.2_Missense_Mutation_p.D68Y|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000314686.5_Missense_Mutation_p.R35I|ZNF619_ENST00000521353.1_Missense_Mutation_p.D108Y|ZNF619_ENST00000432264.2_Missense_Mutation_p.D68Y	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													135	611					3.36649e-63	4.24766e-63	1	1	0	T	40524102	G	T	40524102	3	4	22	1	0	0	0	0	1	0	0	0	18100	942	33	2	358	2	ZNF619	3	40524102	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	696	40524102	157498328	3809	5955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000456778.1_Missense_Mutation_p.A67V|ZNF619_ENST00000522736.1_Missense_Mutation_p.A102V|ZNF619_ENST00000429348.2_Missense_Mutation_p.A111V|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000314686.5_Missense_Mutation_p.A95V|ZNF619_ENST00000521353.1_Missense_Mutation_p.A151V|ZNF619_ENST00000432264.2_Missense_Mutation_p.A111V	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													48	293					0	0	1	0	0	T	40528333	C	T	40528333	3	4	22	1	0	0	0	0	1	0	0	0	18100	710	25	2	492	2	ZNF619	3	40528333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4231	40528333	157494097	3810	5956											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000456778.1_Silent_p.D94D|ZNF619_ENST00000522736.1_Silent_p.D129D|ZNF619_ENST00000429348.2_Silent_p.D138D|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000314686.5_Silent_p.D122D|ZNF619_ENST00000521353.1_Silent_p.D178D|ZNF619_ENST00000432264.2_Silent_p.D138D	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													63	295					0	0	1	0	0	T	40528415	C	T	40528415	2	4	22	1	0	0	0	0	0	0	0	1	18100	564	20	2		2	ZNF619	3	40528415	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82	40528415	157494015	3811	5957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000456778.1_Silent_p.C466C|ZNF619_ENST00000522736.1_Silent_p.C501C|ZNF619_ENST00000429348.2_Silent_p.C510C|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000314686.5_Silent_p.C494C|ZNF619_ENST00000521353.1_Silent_p.C550C|ZNF619_ENST00000432264.2_Silent_p.C510C	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													53	257					0	0	1	0	0	T	40529531	C	T	40529531	2	4	22	1	0	0	0	0	0	0	0	1	18100	805	28	2		2	ZNF619	3	40529531	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1116	40529531	157492899	3812	5958											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	275					0	0	1	0	0	T	40558249	C	T	40558249	2	4	22	1	0	0	0	0	0	0	0	1	18101	755	27	1		1	ZNF620	3	40558249	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28718	40558249	157464181	3813	5959											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000403205.2_Silent_p.T78T|ZNF621_ENST00000310898.1_Silent_p.T78T|ZNF621_ENST00000490457.1_3'UTR|ZNF621_ENST00000431278.1_5'UTR	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													64	273					0	0	1	0	0	T	40571782	C	T	40571782	2	4	22	1	0	0	0	0	0	0	0	1	18102	639	23	1		1	ZNF621	3	40571782	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13533	40571782	157450648	3814	5960											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405570.1_Missense_Mutation_p.I140N|CTNNB1_ENST00000396185.3_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				81	267					0	0	1	0	0	A	41266622	T	A	41266622	3	1	22	1	0	0	0	0	1	0	0	0	4040	1493	52	5	429	5	CTNNB1	3	41266622	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	694840	41266622	156755808	3815	5961											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405570.1_Missense_Mutation_p.E396D|CTNNB1_ENST00000396185.3_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				166	631					0	0	1	0	0	C	41275022	A	C	41275022	3	2	22	1	0	0	0	0	1	0	0	0	4040	69	3	3	1218	3	CTNNB1	3	41275022	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8400	41275022	156747408	3816	5962											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405570.1_Missense_Mutation_p.N415H|CTNNB1_ENST00000396185.3_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				158	835					0	0	1	0	0	C	41275077	A	C	41275077	3	2	22	1	0	0	0	0	1	0	0	0	4040	14	1	3	1273	3	CTNNB1	3	41275077	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	55	41275077	156747353	3817	5963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405570.1_Missense_Mutation_p.A421V|CTNNB1_ENST00000396185.3_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				160	809					0	0	1	0	0	T	41275096	C	T	41275096	3	4	22	1	0	0	0	0	1	0	0	0	4040	797	28	2	1292	2	CTNNB1	3	41275096	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	41275096	156747334	3818	5964											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405570.1_Missense_Mutation_p.R542H|CTNNB1_ENST00000396185.3_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				56	275					0	0	1	0	0	A	41275730	G	A	41275730	3	1	22	1	0	0	0	0	1	0	0	0	4040	1145	40	1	1659	1	CTNNB1	3	41275730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	634	41275730	156746700	3819	5965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	276					0	0	1	0	0	T	41746752	C	T	41746752	3	4	22	1	0	0	0	0	1	0	0	0	17038	797	28	2	1195	2	ULK4	3	41746752	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	471022	41746752	156275678	3820	5966	36	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	298					0	0	1	0	0	G	41746756	A	G	41746756	2	3	22	1	0	0	0	0	0	0	0	1	17038	214	8	3		3	ULK4	3	41746756	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4	41746756	156275674	3821	5967	36	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	275					3.8128e-34	4.53067e-34	1	1	0	A	41756938	C	A	41756938	5	1	22	1	0	0	0	0	0	0	1	0	17038	521	18	2	1305	2	ULK4	3	41756938	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10182	41756938	156265492	3822	5968											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)gcaaatfs	p.N627fs		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													22	938	---	---	---	---						C	41841756	-	C	41841755	7	5	22	1	0	1	1	0	0	0	0	0	17038	1850	64	0	2020	0	ULK4	3	41841755	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	84817	41841755	156180675	3823	5969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	378					0	0	1	0	0	C	41939937	T	C	41939937	2	2	22	1	0	0	0	0	0	0	0	1	17038	1625	57	3		3	ULK4	3	41939937	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	98182	41939937	156082493	3824	5970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	564					0	0	1	0	0	A	42167076	G	A	42167076	3	1	22	1	0	0	0	0	1	0	0	0	16510	1059	37	1	262	1	TRAK1	3	42167076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227139	42167076	155855354	3825	5971											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341421.3_Silent_p.H98H|TRAK1_ENST00000396175.1_Silent_p.H98H|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Silent_p.H82H	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													21	699					0	0	1	0	0	T	42226281	C	T	42226281	2	4	22	1	0	0	0	0	0	0	0	1	16510	477	17	2		2	TRAK1	3	42226281	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59205	42226281	155796149	3826	5972											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341421.3_Missense_Mutation_p.V234I|TRAK1_ENST00000396175.1_Missense_Mutation_p.V234I|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Missense_Mutation_p.V218I	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													82	305					0	0	1	0	0	A	42234671	G	A	42234671	3	1	22	1	0	0	0	0	1	0	0	0	16510	1029	36	2	1020	2	TRAK1	3	42234671	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8390	42234671	155787759	3827	5973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341421.3_Missense_Mutation_p.R304C|TRAK1_ENST00000396175.1_Missense_Mutation_p.R304C|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Missense_Mutation_p.R288C	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													25	84					0	0	1	0	0	T	42236404	C	T	42236404	3	4	22	1	0	0	0	0	1	0	0	0	16510	768	27	1	1238	1	TRAK1	3	42236404	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1733	42236404	155786026	3828	5974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341421.3_Intron|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000487159.1_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													35	120					0	0	1	0	0	T	42244300	C	T	42244300	2	4	22	1	0	0	0	0	0	0	0	1	16510	638	22	2		2	TRAK1	3	42244300	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7896	42244300	155778130	3829	5975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42568884G>T	ENST00000433647.1	+	6	900		c.e6-1		VIPR1-AS1_ENST00000452639.2_RNA|VIPR1_ENST00000543411.1_Intron|VIPR1_ENST00000473575.1_Splice_Site|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000325123.4_Splice_Site|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1_ENST00000438259.2_Intron	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													59	323					1.19553e-41	1.45319e-41	1	1	0	T	42568884	G	T	42568884	5	4	22	1	0	0	0	0	0	0	1	0	17229	985	34	2	417	2	VIPR1	3	42568884	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	324584	42568884	155453546	3830	5976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	299					0	0	1	0	0	T	42672059	C	T	42672059	2	4	22	1	0	0	0	0	0	0	0	1	10495	506	18	2		2	NKTR	3	42672059	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103175	42672059	155350371	3831	5977											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	289					0	0	1	0	0	T	42681067	C	T	42681067	3	4	22	1	0	0	0	0	1	0	0	0	10495	507	18	2	3917	2	NKTR	3	42681067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9008	42681067	155341363	3832	5978											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	164					0	0	1	0	0	T	42685488	C	T	42685488	3	4	22	1	0	0	0	0	1	0	0	0	10495	759	27	1	4352	1	NKTR	3	42685488	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4421	42685488	155336942	3833	5979											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	88					0	0	1	0	0	T	42705408	C	T	42705408	2	4	22	1	0	0	0	0	0	0	0	1	17607	883	31	1		1	ZBTB47	3	42705408	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19920	42705408	155317022	3834	5980											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_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													214	1022					0	0	1	0	0	T	42775003	C	T	42775003	2	4	22	1	0	0	0	0	0	0	0	1	2783	639	23	1		1	CCDC13	3	42775003	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69595	42775003	155247427	3835	5981											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_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													87	470					0	0	1	0	0	A	42777266	G	A	42777266	3	1	22	1	0	0	0	0	1	0	0	0	2783	1203	42	2	871	2	CCDC13	3	42777266	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2263	42777266	155245164	3836	5982											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_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													79	371					0	0	1	0	0	T	42781273	C	T	42781273	2	4	22	1	0	0	0	0	0	0	0	1	2783	912	32	2		2	CCDC13	3	42781273	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4007	42781273	155241157	3837	5983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_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													37	126					0	0	1	0	0	T	42916392	C	T	42916392	3	4	22	1	0	0	0	0	1	0	0	0	4221	652	23	1	592	1	CYP8B1	3	42916392	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135119	42916392	155106038	3838	5984											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	437					0	0	1	0	0	C	42956202	A	C	42956202	3	2	22	1	0	0	0	0	1	0	0	0	18128	43	2	3	838	3	ZNF662	3	42956202	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39810	42956202	155066228	3839	5985											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	317					0	0	1	0	0	C	42956386	A	C	42956386	3	2	22	1	0	0	0	0	1	0	0	0	18128	14	1	3	1022	3	ZNF662	3	42956386	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	184	42956386	155066044	3840	5986											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	248					0	0	1	0	0	A	42956441	G	A	42956441	2	1	22	1	0	0	0	0	0	0	0	1	18128	1074	38	1		1	ZNF662	3	42956441	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55	42956441	155065989	3841	5987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	203					0	0	1	0	0	A	42956571	G	A	42956571	3	1	22	1	0	0	0	0	1	0	0	0	18128	1174	41	2	1207	2	ZNF662	3	42956571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	130	42956571	155065859	3842	5988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429705.2_Nonsense_Mutation_p.G3*|SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000454177.1_Nonsense_Mutation_p.G3*|SNRK_ENST00000437827.1_Intron	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													51	249					2.0833e-19	2.32388e-19	1	1	0	T	43344702	G	T	43344702	4	4	22	1	0	0	0	0	0	1	0	0	14905	1001	35	2	9	2	SNRK	3	43344702	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	388131	43344702	154677728	3843	5989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429705.2_Missense_Mutation_p.F443C|RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000454177.1_Missense_Mutation_p.F443C|SNRK_ENST00000437827.1_Missense_Mutation_p.F237C	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													43	149					0	0	1	0	0	G	43389079	T	G	43389079	3	3	22	1	0	0	0	0	1	0	0	0	14905	1783	62	3	1346	3	SNRK	3	43389079	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44377	43389079	154633351	3844	5990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396091.3_Missense_Mutation_p.K63R|ANO10_ENST00000414522.2_Missense_Mutation_p.K129R|ANO10_ENST00000350459.4_Missense_Mutation_p.K129R|ANO10_ENST00000451430.2_Intron	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													20	96					0	0	1	0	0	C	43640110	T	C	43640110	3	2	22	1	0	0	0	0	1	0	0	0	690	1841	64	3	1636	3	ANO10	3	43640110	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	251031	43640110	154382320	3845	5991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	453					0	0	1	0	0	G	44488939	A	G	44488939	3	3	22	1	0	0	0	0	1	0	0	0	17975	333	12	3	875	3	ZNF445	3	44488939	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	848829	44488939	153533491	3846	5992											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													154	615					0	0	1	0	0	T	44492866	C	T	44492866	3	4	22	1	0	0	0	0	1	0	0	0	17975	623	22	2	2577	2	ZNF445	3	44492866	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3927	44492866	153529564	3847	5993											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	279					0	0	1	0	0	T	44497024	C	T	44497024	4	4	22	1	0	0	0	0	0	1	0	0	17975	740	26	2	3101	2	ZNF445	3	44497024	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4158	44497024	153525406	3848	5994											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	223					6.72169e-28	7.80062e-28	1	1	0	T	44635870	G	T	44635870	3	4	22	1	0	0	0	0	1	0	0	0	18127	1029	36	2	187	2	ZNF660	3	44635870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138846	44635870	153386560	3849	5995											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	396					0	0	1	0	0	G	44636401	T	G	44636401	3	3	22	1	0	0	0	0	1	0	0	0	18127	1609	56	3	718	3	ZNF660	3	44636401	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	531	44636401	153386029	3850	5996											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*|ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA	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													41	213					0	0	1	0	0	T	44700999	C	T	44700999	4	4	22	1	0	0	0	0	0	1	0	0	17919	760	27	1	1154	1	ZNF35	3	44700999	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64598	44700999	153321431	3851	5997											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449836.1_Missense_Mutation_p.R305Q|ZNF502_ENST00000436624.2_Missense_Mutation_p.R305Q	NM_001134440.1|NM_033210.4	NP_001127912.1|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													202	859					0	0	1	0	0	A	44763223	G	A	44763223	3	1	22	1	0	0	0	0	1	0	0	0	18007	1058	37	1	920	1	ZNF502	3	44763223	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62224	44763223	153259207	3852	5998											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	250					9.59449e-18	1.06118e-17	1	1	0	A	44776675	C	A	44776675	2	1	22	1	0	0	0	0	0	0	0	1	18006	668	24	2		2	ZNF501	3	44776675	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13452	44776675	153245755	3853	5999											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	210					0	0	1	0	0	T	44803019	C	T	44803019	3	4	22	1	0	0	0	0	1	0	0	0	8251	652	23	1	400	1	KIAA1143	3	44803019	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26344	44803019	153219411	3854	6000											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	283					0	0	1	0	0	T	44867540	C	T	44867540	2	4	22	1	0	0	0	0	0	0	0	1	8319	535	19	1		1	KIF15	3	44867540	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64521	44867540	153154890	3855	6001											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	624					3.62473e-10	3.83521e-10	1	1	0	A	44867676	C	A	44867676	3	1	22	1	0	0	0	0	1	0	0	0	8319	912	32	2	2777	2	KIF15	3	44867676	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136	44867676	153154754	3856	6002											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	381					1.37074e-43	1.67417e-43	1	1	0	A	44872399	C	A	44872399	3	1	22	1	0	0	0	0	1	0	0	0	8319	564	20	2	3162	2	KIF15	3	44872399	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4723	44872399	153150031	3857	6003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	153					0	0	1	0	0	C	44929289	T	C	44929289	5	2	22	1	0	0	0	0	0	0	1	0	15892	1710	59	3	312	3	TGM4	3	44929289	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	56890	44929289	153093141	3858	6004											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	207					0	0	1	0	0	A	44943361	G	A	44943361	2	1	22	1	0	0	0	0	0	0	0	1	15892	1103	39	1		1	TGM4	3	44943361	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14072	44943361	153079069	3859	6005											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	322					0	0	1	0	0	T	45160072	C	T	45160072	3	4	22	1	0	0	0	0	1	0	0	0	3115	565	20	2	2426	2	CDCP1	3	45160072	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	216711	45160072	152862358	3860	6006											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	291					0	0	1	0	0	A	45459025	G	A	45459025	3	1	22	1	0	0	0	0	1	0	0	0	8674	1087	38	1	425	1	LARS2	3	45459025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	298953	45459025	152563405	3861	6007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	270					0	0	1	0	0	T	45530205	C	T	45530205	2	4	22	1	0	0	0	0	0	0	0	1	8674	796	28	2		2	LARS2	3	45530205	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71180	45530205	152492225	3862	6008											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	312					0	0	1	0	0	A	45636972	G	A	45636972	3	1	22	1	0	0	0	0	1	0	0	0	8838	1116	39	1	603	1	LIMD1	3	45636972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106767	45636972	152385458	3863	6009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	398					3.27973e-32	3.87147e-32	1	1	0	T	45637385	G	T	45637385	3	4	22	1	0	0	0	0	1	0	0	0	8838	991	35	2	1016	2	LIMD1	3	45637385	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	413	45637385	152385045	3864	6010											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000353278.4_Silent_p.L509L|SLC6A20_ENST00000456124.2_Intron	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													50	196					0	0	1	0	0	A	45800611	G	A	45800611	2	1	22	1	0	0	0	0	0	0	0	1	14739	1045	37	1		1	SLC6A20	3	45800611	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163226	45800611	152221819	3865	6011											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000353278.4_Missense_Mutation_p.S389I|SLC6A20_ENST00000493980.1_5'UTR|SLC6A20_ENST00000456124.2_Missense_Mutation_p.S426I	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													27	110					1.2476e-16	1.37204e-16	1	1	0	A	45807055	C	A	45807055	3	1	22	1	0	0	0	0	1	0	0	0	14739	797	28	2	517	2	SLC6A20	3	45807055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6444	45807055	152215375	3866	6012											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000353278.4_Missense_Mutation_p.L217M|SLC6A20_ENST00000456124.2_Missense_Mutation_p.L254M	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													55	242					2.73381e-35	3.26223e-35	1	1	0	T	45812884	G	T	45812884	3	4	22	1	0	0	0	0	1	0	0	0	14739	991	35	2	1042	2	SLC6A20	3	45812884	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5829	45812884	152209546	3867	6013											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000395963.2_Missense_Mutation_p.L56I|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.L56I|CCR9_ENST00000422395.1_Silent_p.V96V	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													212	814					9.14242e-86	1.1718e-85	1	1	0	A	45942482	C	A	45942482	3	1	22	1	0	0	0	0	1	0	0	0	2970	913	32	2	208	2	CCR9	3	45942482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129598	45942482	152079948	3868	6014											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	412					0	0	1	0	0	A	46000959	G	A	46000959	2	1	22	1	0	0	0	0	0	0	0	1	6160	1045	37	1		1	FYCO1	3	46000959	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58477	46000959	152021471	3869	6015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	309					0	0	1	0	0	G	46008354	T	G	46008354	3	3	22	1	0	0	0	0	1	0	0	0	6160	1838	64	3	2008	3	FYCO1	3	46008354	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7395	46008354	152014076	3870	6016											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	348					0	0	1	0	0	G	46008506	A	G	46008506	3	3	22	1	0	0	0	0	1	0	0	0	6160	275	10	3	2160	3	FYCO1	3	46008506	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	152	46008506	152013924	3871	6017											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													148	589					0	0	1	0	0	T	46009762	C	T	46009762	3	4	22	1	0	0	0	0	1	0	0	0	6160	652	23	1	3416	1	FYCO1	3	46009762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1256	46009762	152012668	3872	6018											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	152					0	0	1	0	0	A	46062946	G	A	46062946	3	1	22	1	0	0	0	0	1	0	0	0	17485	1261	44	2	511	2	XCR1	3	46062946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53184	46062946	151959484	3873	6019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	280					0	0	1	0	0	A	46063378	G	A	46063378	3	1	22	1	0	0	0	0	1	0	0	0	17485	1116	39	1	943	1	XCR1	3	46063378	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	432	46063378	151959052	3874	6020											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	203					0	0	1	0	0	A	46244850	G	A	46244850	3	1	22	1	0	0	0	0	1	0	0	0	2961	1087	38	1	116	1	CCR1	3	46244850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181472	46244850	151777580	3875	6021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	324					0	0	1	0	0	A	46245532	G	A	46245532	2	1	22	1	0	0	0	0	0	0	0	1	2961	1048	37	1		1	CCR1	3	46245532	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	682	46245532	151776898	3876	6022											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Silent_p.Y28Y|CCR2_ENST00000400888.2_Silent_p.Y28Y	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													109	525					0	0	1	0	0	T	46399102	C	T	46399102	2	4	22	1	0	0	0	0	0	0	0	1	2963	547	19	1		1	CCR2	3	46399102	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153570	46399102	151623328	3877	6023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	499					0	0	1	0	0	T	46488808	C	T	46488808	3	4	22	1	0	0	0	0	1	0	0	0	9124	922	32	2	870	2	LTF	3	46488808	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89706	46488808	151533622	3878	6024											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46580536G>A	ENST00000395905.3	-	4	881	c.490_splice	c.e4+1	p.I163_splice	LRRC2_ENST00000296144.3_Splice_Site_p.I163_splice	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													63	310					0	0	1	0	0	A	46580536	G	A	46580536	5	1	22	1	0	0	0	0	0	0	1	0	9021	1072	37	1	650	1	LRRC2	3	46580536	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91728	46580536	151441894	3879	6025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	329					4.79706e-38	5.77216e-38	1	1	0	T	46717749	G	T	46717749	2	4	22	1	0	0	0	0	0	0	0	1	547	929	33	2		2	ALS2CL	3	46717749	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137213	46717749	151304681	3880	6026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													167	652					0	0	1	0	0	T	46783961	C	T	46783961	3	4	22	1	0	0	0	0	1	0	0	0	12678	768	27	1	124	1	PRSS45	3	46783961	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66212	46783961	151238469	3881	6027											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	212					2.9001e-28	3.37151e-28	1	1	0	A	46784535	C	A	46784535	3	1	22	1	0	0	0	0	1	0	0	0	12678	680	24	2	373	2	PRSS45	3	46784535	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	574	46784535	151237895	3882	6028											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	39					0.217242	0.217458	1	1	0	T	46785608	G	T	46785608	3	4	22	1	0	0	0	0	1	0	0	0	12678	971	34	2	562	2	PRSS45	3	46785608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1073	46785608	151236822	3883	6029											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	585					0	0	1	0	0	T	46904811	C	T	46904811	3	4	22	1	0	0	0	0	1	0	0	0	10096	768	27	1	541	1	MYL3	3	46904811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119203	46904811	151117619	3884	6030											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000605358.1_5'UTR|CCDC12_ENST00000546280.1_Missense_Mutation_p.A77V|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													18	97					0	0	1	0	0	A	46966960	G	A	46966960	3	1	22	1	0	0	0	0	1	0	0	0	2773	1203	42	2	290	2	CCDC12	3	46966960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62149	46966960	151055470	3885	6031											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.A78T	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													32	186					0	0	1	0	0	A	47030423	G	A	47030423	3	1	22	1	0	0	0	0	1	0	0	0	10237	971	34	2	242	2	NBEAL2	3	47030423	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63463	47030423	150992007	3886	6032											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47040450C>T	ENST00000450053.3	+	24	3565	c.3384_splice	c.e24-1	p.A1129_splice	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	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)	14	48					0	0	1	0	0	T	47040450	C	T	47040450	5	4	22	1	0	0	0	0	0	0	1	0	10237	782	27	1	3480	1	NBEAL2	3	47040450	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10027	47040450	150981980	3887	6033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.G1184G	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													102	480					0	0	1	0	0	T	47041693	C	T	47041693	2	4	22	1	0	0	0	0	0	0	0	1	10237	697	25	2		2	NBEAL2	3	47041693	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1243	47041693	150980737	3888	6034											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47042768G>T	ENST00000450053.3	+	29	4663		c.e29-1		NBEAL2_ENST00000383740.2_Splice_Site|NBEAL2_ENST00000292309.5_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													94	400					7.0627e-44	8.63406e-44	1	1	0	T	47042768	G	T	47042768	5	4	22	1	0	0	0	0	0	0	1	0	10237	985	34	2	4598	2	NBEAL2	3	47042768	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1075	47042768	150979662	3889	6035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000383740.2_Silent_p.T583T|NBEAL2_ENST00000292309.5_Silent_p.T2120T	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													79	333					4.00405e-42	4.87196e-42	1	1	0	A	47047546	C	A	47047546	2	1	22	1	0	0	0	0	0	0	0	1	10237	668	24	2		2	NBEAL2	3	47047546	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4778	47047546	150974884	3890	6036											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000383740.2_Silent_p.S806S|NBEAL2_ENST00000292309.5_Silent_p.S2373S	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													29	167					0	0	1	0	0	T	47049628	C	T	47049628	2	4	22	1	0	0	0	0	0	0	0	1	10237	796	28	2		2	NBEAL2	3	47049628	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2082	47049628	150972802	3891	6037											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								15	331					0	0	1	0	0	T	47164118	C	T	47164118	3	4	22	1	0	0	0	0	1	0	0	0	14185	922	32	2	5762	2	SETD2	3	47164118	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114490	47164118	150858312	3892	6038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								64	274					0	0	1	0	0	C	47164368	A	C	47164368	3	2	22	1	0	0	0	0	1	0	0	0	14185	98	4	3	6012	3	SETD2	3	47164368	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	250	47164368	150858062	3893	6039											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								16	417					2.32078e-09	2.442e-09	1	1	0	A	47164397	C	A	47164397	4	1	22	1	0	0	0	0	0	1	0	0	14185	922	32	2	6041	2	SETD2	3	47164397	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29	47164397	150858033	3894	6040											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000265529.3_Silent_p.S535S|KIF9_ENST00000444589.2_Intron|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000452770.2_Silent_p.S535S|KIF9_ENST00000487440.1_5'UTR	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													7	252					0.0293803	0.0294705	1	1	0	T	47284645	G	T	47284645	2	4	22	1	0	0	0	0	0	0	0	1	8352	987	35	2		2	KIF9	3	47284645	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120248	47284645	150737785	3895	6041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000265529.3_Missense_Mutation_p.K338T|KIF9_ENST00000444589.2_Missense_Mutation_p.K338T|KIF9_ENST00000352910.4_Missense_Mutation_p.K245T|KIF9_ENST00000452770.2_Missense_Mutation_p.K338T|KIF9_ENST00000487440.1_5'UTR	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													70	360					0	0	1	0	0	G	47299019	T	G	47299019	3	3	22	1	0	0	0	0	1	0	0	0	8352	1609	56	3	1407	3	KIF9	3	47299019	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14374	47299019	150723411	3896	6042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	507					0	0	1	0	0	T	47371497	C	T	47371497	3	4	22	1	0	0	0	0	1	0	0	0	8416	797	28	2	472	2	KLHL18	3	47371497	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72478	47371497	150650933	3897	6043											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	440					0.000274275	0.000278163	1	1	0	T	47437686	G	T	47437686	3	4	22	1	0	0	0	0	1	0	0	0	12840	933	33	2	144	2	PTPN23	3	47437686	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66189	47437686	150584744	3898	6044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	311					1.19403e-26	1.3775e-26	1	1	0	T	47449834	G	T	47449834	5	4	22	1	0	0	0	0	0	0	1	0	12840	985	34	2	1242	2	PTPN23	3	47449834	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12148	47449834	150572596	3899	6045											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	348					0	0	1	0	0	T	47450720	C	T	47450720	2	4	22	1	0	0	0	0	0	0	0	1	12840	755	27	1		1	PTPN23	3	47450720	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	886	47450720	150571710	3900	6046											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	119					9.7654e-05	9.93505e-05	1	1	0	A	47451949	C	A	47451949	2	1	22	1	0	0	0	0	0	0	0	1	12840	845	30	2		2	PTPN23	3	47451949	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1229	47451949	150570481	3901	6047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	169					0.00198382	0.00200138	1	1	0	T	47452754	G	T	47452754	3	4	22	1	0	0	0	0	1	0	0	0	12840	1203	42	2	3544	2	PTPN23	3	47452754	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	805	47452754	150569676	3902	6048											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	111					0	0	1	0	0	A	47454450	G	A	47454450	2	1	22	1	0	0	0	0	0	0	0	1	12840	1074	38	1		1	PTPN23	3	47454450	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1696	47454450	150567980	3903	6049											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	149					1.36161e-19	1.52027e-19	1	1	0	A	47454517	C	A	47454517	3	1	22	1	0	0	0	0	1	0	0	0	12840	623	22	2	4851	2	PTPN23	3	47454517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67	47454517	150567913	3904	6050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000441517.2_Silent_p.R476R|SCAP_ENST00000545718.1_Silent_p.R339R	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													13	52					0	0	1	0	0	A	47459949	G	A	47459949	2	1	22	1	0	0	0	0	0	0	0	1	13930	1074	38	1		1	SCAP	3	47459949	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5432	47459949	150562481	3905	6051											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000441517.2_Silent_p.D419D|SCAP_ENST00000545718.1_Silent_p.D282D	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													12	88					0	0	1	0	0	A	47460252	G	A	47460252	2	1	22	1	0	0	0	0	0	0	0	1	13930	1136	40	1		1	SCAP	3	47460252	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	303	47460252	150562178	3906	6052											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000441517.2_Missense_Mutation_p.P379L|SCAP_ENST00000545718.1_Missense_Mutation_p.P242L	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													12	325					0	0	1	0	0	A	47460857	G	A	47460857	3	1	22	1	0	0	0	0	1	0	0	0	13930	1116	39	1	1982	1	SCAP	3	47460857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	605	47460857	150561573	3907	6053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47467101C>T	ENST00000265565.5	-	8	1323	c.910_splice	c.e8-1	p.R304_splice	SCAP_ENST00000441517.2_Splice_Site_p.R49_splice|SCAP_ENST00000545718.1_Intron	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													69	289					0	0	1	0	0	T	47467101	C	T	47467101	5	4	22	1	0	0	0	0	0	0	1	0	13930	637	22	2	2992	2	SCAP	3	47467101	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6244	47467101	150555329	3908	6054											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264723.4_Missense_Mutation_p.L216P|CSPG5_ENST00000456150.1_Missense_Mutation_p.L78P	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													41	204					0	0	1	0	0	G	47618869	A	G	47618869	3	3	22	1	0	0	0	0	1	0	0	0	3986	188	7	3	988	3	CSPG5	3	47618869	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	151768	47618869	150403561	3909	6055											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264723.4_Silent_p.G158G|CSPG5_ENST00000456150.1_Silent_p.G20G	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													90	353					0	0	1	0	0	A	47619042	G	A	47619042	2	1	22	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	3910	6056											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	1101					0	0	1	0	0	T	47651741	C	T	47651741	3	4	22	1	0	0	0	0	1	0	0	0	14829	884	31	1	471	1	SMARCC1	3	47651741	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32699	47651741	150370689	3911	6057											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	284					0	0	1	0	0	G	47742803	A	G	47742803	3	3	22	1	0	0	0	0	1	0	0	0	14829	391	14	3	2259	3	SMARCC1	3	47742803	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	91062	47742803	150279627	3912	6058											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457607.1_Missense_Mutation_p.Q80H|DHX30_ENST00000445061.1_Missense_Mutation_p.Q52H	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													31	337					2.46105e-21	2.77029e-21	1	1	0	T	47868868	G	T	47868868	3	4	22	1	0	0	0	0	1	0	0	0	4532	962	34	2	177	2	DHX30	3	47868868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126065	47868868	150153562	3913	6059											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457607.1_Silent_p.D163D|DHX30_ENST00000445061.1_Silent_p.D135D	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													63	284					0	0	1	0	0	T	47882405	C	T	47882405	2	4	22	1	0	0	0	0	0	0	0	1	4532	535	19	1		1	DHX30	3	47882405	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13537	47882405	150140025	3914	6060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457607.1_Missense_Mutation_p.L308F|DHX30_ENST00000445061.1_Missense_Mutation_p.L280F	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													102	503					0	0	1	0	0	T	47884644	C	T	47884644	3	4	22	1	0	0	0	0	1	0	0	0	4532	565	20	2	875	2	DHX30	3	47884644	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2239	47884644	150137786	3915	6061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457607.1_Missense_Mutation_p.R384H|DHX30_ENST00000445061.1_Missense_Mutation_p.R356H	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													61	251					0	0	1	0	0	A	47887317	G	A	47887317	3	1	22	1	0	0	0	0	1	0	0	0	4532	1087	38	1	1108	1	DHX30	3	47887317	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2673	47887317	150135113	3916	6062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457607.1_Missense_Mutation_p.R1170W|DHX30_ENST00000445061.1_Missense_Mutation_p.R1142W	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)	31	202					0	0	1	0	0	T	47891449	C	T	47891449	3	4	22	1	0	0	0	0	1	0	0	0	4532	759	27	1	3513	1	DHX30	3	47891449	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4132	47891449	150130981	3917	6063											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457607.1_Missense_Mutation_p.R1182C|DHX30_ENST00000445061.1_Missense_Mutation_p.R1154C	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)	26	129					0	0	1	0	0	T	47891485	C	T	47891485	3	4	22	1	0	0	0	0	1	0	0	0	4532	768	27	1	3549	1	DHX30	3	47891485	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36	47891485	150130945	3918	6064											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420772.2_Missense_Mutation_p.R591H|MAP4_ENST00000395734.3_Missense_Mutation_p.R860H|MAP4_ENST00000383737.4_Missense_Mutation_p.R588H|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													99	413					0	0	1	0	0	T	47912583	C	T	47912583	3	4	22	1	0	0	0	0	1	0	0	0	9308	768	27	1	1058	1	MAP4	3	47912583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21098	47912583	150109847	3919	6065											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	420					0	0	1	0	0	T	48266102	C	T	48266102	3	4	22	1	0	0	0	0	1	0	0	0	2628	759	27	1	329	1	CAMP	3	48266102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	353519	48266102	149756328	3920	6066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													140	674					0	0	1	0	0	G	48266844	A	G	48266844	3	3	22	1	0	0	0	0	1	0	0	0	2628	14	1	3	457	3	CAMP	3	48266844	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	742	48266844	149755586	3921	6067											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000296440.6_Missense_Mutation_p.D1863G|PLXNB1_ENST00000448774.2_Missense_Mutation_p.D474G|PLXNB1_ENST00000358459.4_Missense_Mutation_p.D1680G|PLXNB1_ENST00000456774.1_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													28	118					0	0	1	0	0	C	48451722	T	C	48451722	3	2	22	1	0	0	0	0	1	0	0	0	12171	1435	50	3	851	3	PLXNB1	3	48451722	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	184878	48451722	149570708	3922	6068											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000296440.6_Missense_Mutation_p.L1603M|PLXNB1_ENST00000448774.2_Missense_Mutation_p.L214M|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L1420M|PLXNB1_ENST00000456774.1_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													51	234					1.83081e-24	2.09304e-24	1	1	0	T	48454198	G	T	48454198	3	4	22	1	0	0	0	0	1	0	0	0	12171	962	34	2	1656	2	PLXNB1	3	48454198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2476	48454198	149568232	3923	6069											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000296440.6_Missense_Mutation_p.L534M|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L534M|PLXNB1_ENST00000456774.1_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													54	254					1.59911e-31	1.88313e-31	1	1	0	T	48463136	G	T	48463136	3	4	22	1	0	0	0	0	1	0	0	0	12171	933	33	2	4935	2	PLXNB1	3	48463136	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8938	48463136	149559294	3924	6070											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48495698A>C	ENST00000412052.1	+	4	735		c.e4-1		ATRIP_ENST00000357105.6_Splice_Site|ATRIP_ENST00000346691.4_Splice_Site|ATRIP_ENST00000320211.3_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					111	685					0	0	1	0	0	C	48495698	A	C	48495698	5	2	22	1	0	0	0	0	0	0	1	0	1203	202	7	3	565	3	ATRIP	3	48495698	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32562	48495698	149526732	3925	6071											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357105.6_Silent_p.T583T|ATRIP_ENST00000346691.4_Silent_p.T683T|ATRIP_ENST00000320211.3_Silent_p.T710T	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					42	181					0	0	1	0	0	T	48506304	C	T	48506304	2	4	22	1	0	0	0	0	0	0	0	1	1203	639	23	1		1	ATRIP	3	48506304	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10606	48506304	149516126	3926	6072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000444177.1_Silent_p.S171S|TREX1_ENST00000433541.1_Silent_p.S42S|TREX1_ENST00000436480.2_Silent_p.S181S|TREX1_ENST00000456089.1_Silent_p.S42S|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000422277.2_Silent_p.S236S			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													51	231					0	0	1	0	0	T	48508597	C	T	48508597	2	4	22	1	0	0	0	0	0	0	0	1	16537	709	25	2		2	TREX1	3	48508597	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2293	48508597	149513833	3927	6073											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000416568.1_Missense_Mutation_p.R61Q|PFKFB4_ENST00000541519.1_Missense_Mutation_p.R27Q|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000545984.1_Missense_Mutation_p.R61Q|PFKFB4_ENST00000536104.1_Missense_Mutation_p.R50Q|PFKFB4_ENST00000383734.2_Missense_Mutation_p.R61Q	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													48	220					0	0	1	0	0	T	48587583	C	T	48587583	3	4	22	1	0	0	0	0	1	0	0	0	11811	884	31	1	1279	1	PFKFB4	3	48587583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78986	48587583	149434847	3928	6074											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	86					0	0	1	0	0	T	48600466	C	T	48600466	3	4	22	1	0	0	0	0	1	0	0	0	16988	768	27	1	250	1	UCN2	3	48600466	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12883	48600466	149421964	3929	6075											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	174					0	0	1	0	0	C	48611968	T	C	48611968	3	2	22	1	0	0	0	0	1	0	0	0	3727	1821	63	3	2589	3	COL7A1	3	48611968	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11502	48611968	149410462	3930	6076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	208					0	0	1	0	0	T	48612815	C	T	48612815	3	4	22	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	3931	6077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	357					0	0	1	0	0	A	48619008	G	A	48619008	3	1	22	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	3932	6078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	250					0	0	1	0	0	T	48621004	C	T	48621004	2	4	22	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	3933	6079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	182					0	0	1	0	0	A	48621343	G	A	48621343	3	1	22	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	3934	6080											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	826					3.90053e-15	4.25374e-15	1	1	0	A	48621980	C	A	48621980	4	1	22	1	0	0	0	0	0	1	0	0	3727	661	23	4	5113	4	COL7A1	3	48621980	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	637	48621980	149400450	3935	6081											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	151					0	0	1	0	0	A	48631916	G	A	48631916	3	1	22	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	3936	6082											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48670685C>A	ENST00000358747.6	-	2	508	c.259_splice	c.e2+1	p.Q86_splice	SLC26A6_ENST00000395550.2_Splice_Site_p.Q107_splice|SLC26A6_ENST00000383733.3_Splice_Site_p.Q107_splice|SLC26A6_ENST00000337000.8_Splice_Site_p.Q107_splice|SLC26A6_ENST00000420764.2_Splice_Site_p.Q107_splice|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000455886.2_Splice_Site_p.Q107_splice	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													21	79					0.000132079	0.000134276	1	1	0	A	48670685	C	A	48670685	5	1	22	1	0	0	0	0	0	0	1	0	14576	695	24	2	2070	2	SLC26A6	3	48670685	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38769	48670685	149351745	3937	6083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395550.2_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000383733.3_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000337000.8_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000420764.2_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000455886.2_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													57	215					2.85724e-49	3.53377e-49	1	1	0	T	48670820	G	T	48670820	4	4	22	1	0	0	0	0	0	1	0	0	14576	963	34	2	2205	2	SLC26A6	3	48670820	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135	48670820	149351610	3938	6084											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	307					9.4237e-28	1.09288e-27	1	1	0	T	48677614	G	T	48677614	3	4	22	1	0	0	0	0	1	0	0	0	3245	971	34	2	542	2	CELSR3	3	48677614	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6794	48677614	149344816	3939	6085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	112					0	0	1	0	0	T	48679431	C	T	48679431	3	4	22	1	0	0	0	0	1	0	0	0	3245	884	31	1	1277	1	CELSR3	3	48679431	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1817	48679431	149342999	3940	6086											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	150					1.2476e-16	1.37204e-16	1	1	0	T	48682471	G	T	48682471	3	4	22	1	0	0	0	0	1	0	0	0	3245	962	34	2	2013	2	CELSR3	3	48682471	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3040	48682471	149339959	3941	6087											
CELSR3	1951	broad.mit.edu	37	chr3	48696595	48696595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcattctggtcaaccaggCggacgtgcacagtggcccgg	14	12	3	0	rs61729234	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48696595C>T	ENST00000544264.1	-	1	3753	c.3473G>A	c.(3472-3474)cGc>cAc	p.R1158H	CELSR3_ENST00000164024.4_Missense_Mutation_p.R1158H			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1158	Cadherin 8.				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)		GTCAACCAGGCGGACGTGCAC	0.532													83	432					0	0	1	0	0	T	48696595	C	T	48696595	3	4	22	1	0	0	0	0	1	0	0	0	3245	768	27	1	6605	1	CELSR3	3	48696595	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14124	48696595	149325835	3942	6088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	219					0	0	1	0	0	T	48698039	C	T	48698039	3	4	22	1	0	0	0	0	1	0	0	0	3245	884	31	1	8049	1	CELSR3	3	48698039	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1444	48698039	149324391	3943	6089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	163					0	0	1	0	0	T	48698703	C	T	48698703	2	4	22	1	0	0	0	0	0	0	0	1	3245	697	25	2		2	CELSR3	3	48698703	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	664	48698703	149323727	3944	6090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	697					2.50493e-22	2.83324e-22	1	1	0	A	48699383	C	A	48699383	3	1	22	1	0	0	0	0	1	0	0	0	3245	797	28	2	9393	2	CELSR3	3	48699383	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	680	48699383	149323047	3945	6091											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000416649.2_Missense_Mutation_p.A439T|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.A446T	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													83	291					0	0	1	0	0	T	48717248	C	T	48717248	3	4	22	1	0	0	0	0	1	0	0	0	10272	739	26	2	860	2	NCKIPSD	3	48717248	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17865	48717248	149305182	3946	6092											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000416649.2_Silent_p.R374R|NCKIPSD_ENST00000341520.4_Silent_p.R381R	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													49	166					0	0	1	0	0	T	48717612	C	T	48717612	2	4	22	1	0	0	0	0	0	0	0	1	10272	738	26	2		2	NCKIPSD	3	48717612	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	364	48717612	149304818	3947	6093											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	345					0	0	1	0	0	A	49042371	G	A	49042371	3	1	22	1	0	0	0	0	1	0	0	0	11407	1232	43	2	987	2	P4HTM	3	49042371	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	324759	49042371	148980059	3948	6094											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	214					0	0	1	0	0	T	49042591	C	T	49042591	2	4	22	1	0	0	0	0	0	0	0	1	11407	564	20	2		2	P4HTM	3	49042591	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	220	49042591	148979839	3949	6095											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000489684.1_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.A81S	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													61	275					7.50695e-29	8.75429e-29	1	1	0	T	49049361	G	T	49049361	3	4	22	1	0	0	0	0	1	0	0	0	17370	1203	42	2	490	2	WDR6	3	49049361	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6770	49049361	148973069	3950	6096											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)	12	315					0	0	1	0	0	A	49051698	G	A	49051698	3	1	22	1	0	0	0	0	1	0	0	0	17370	1203	42	2	2738	2	WDR6	3	49051698	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2337	49051698	148970732	3951	6097											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)	12	636					7.03913e-09	7.37812e-09	1	1	0	A	49051889	C	A	49051889	3	1	22	1	0	0	0	0	1	0	0	0	17370	681	24	2	2844	2	WDR6	3	49051889	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191	49051889	148970541	3952	6098											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395458.2_Missense_Mutation_p.G35R|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.G35R|NDUFAF3_ENST00000451378.2_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													88	1094					0	0	1	0	0	A	49060138	G	A	49060138	3	1	22	1	0	0	0	0	1	0	0	0	10323	1233	43	2	284	2	NDUFAF3	3	49060138	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8249	49060138	148962292	3953	6099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395458.2_Silent_p.G81G|NDUFAF3_ENST00000326912.4_Silent_p.G81G|NDUFAF3_ENST00000451378.2_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													47	528					0	0	1	0	0	T	49060385	C	T	49060385	2	4	22	1	0	0	0	0	0	0	0	1	10323	697	25	2		2	NDUFAF3	3	49060385	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	247	49060385	148962045	3954	6100											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	375					0	0	1	0	0	T	49062389	C	T	49062389	3	4	22	1	0	0	0	0	1	0	0	0	7771	768	27	1	325	1	IMPDH2	3	49062389	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2004	49062389	148960041	3955	6101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	228					0	0	1	0	0	A	49065268	G	A	49065268	3	1	22	1	0	0	0	0	1	0	0	0	7771	1115	39	1	1178	1	IMPDH2	3	49065268	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2879	49065268	148957162	3956	6102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_Missense_Mutation_p.R507H|QRICH1_ENST00000424300.1_Missense_Mutation_p.R507H	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													50	254					0	0	1	0	0	T	49084009	C	T	49084009	3	4	22	1	0	0	0	0	1	0	0	0	12931	768	27	1	834	1	QRICH1	3	49084009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18741	49084009	148938421	3957	6103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479449.1_Intron|QRICH1_ENST00000357496.2_Silent_p.Y258Y|QRICH1_ENST00000424300.1_Silent_p.Y258Y	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													70	370					0	0	1	0	0	A	49094859	G	A	49094859	2	1	22	1	0	0	0	0	0	0	0	1	12931	1140	40	1		1	QRICH1	3	49094859	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10850	49094859	148927571	3958	6104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398896.1_Missense_Mutation_p.R994H|USP19_ENST00000398888.2_Missense_Mutation_p.R1186H|USP19_ENST00000398898.2_Missense_Mutation_p.R1226H|USP19_ENST00000434032.2_Missense_Mutation_p.R1287H|USP19_ENST00000398892.3_Missense_Mutation_p.R1226H|USP19_ENST00000417901.1_Missense_Mutation_p.R1289H	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													55	265					0	0	1	0	0	T	49147789	C	T	49147789	3	4	22	1	0	0	0	0	1	0	0	0	17110	768	27	1	407	1	USP19	3	49147789	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52930	49147789	148874641	3959	6105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398896.1_Missense_Mutation_p.R445K|USP19_ENST00000398888.2_Missense_Mutation_p.R637K|USP19_ENST00000398898.2_Missense_Mutation_p.R677K|USP19_ENST00000434032.2_Missense_Mutation_p.R738K|USP19_ENST00000398892.3_Missense_Mutation_p.R677K|USP19_ENST00000417901.1_Missense_Mutation_p.R740K	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													10	303					0	0	1	0	0	T	49152269	C	T	49152269	3	4	22	1	0	0	0	0	1	0	0	0	17110	681	24	2	2098	2	USP19	3	49152269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4480	49152269	148870161	3960	6106											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398896.1_Missense_Mutation_p.G145E|USP19_ENST00000398888.2_Missense_Mutation_p.G339E|USP19_ENST00000398898.2_Missense_Mutation_p.G377E|USP19_ENST00000434032.2_Missense_Mutation_p.G440E|USP19_ENST00000398892.3_Missense_Mutation_p.G377E|USP19_ENST00000417901.1_Missense_Mutation_p.G440E	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													50	226					0	0	1	0	0	T	49153749	C	T	49153749	3	4	22	1	0	0	0	0	1	0	0	0	17110	623	22	2	3016	2	USP19	3	49153749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1480	49153749	148868681	3961	6107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398896.1_Missense_Mutation_p.S56I|USP19_ENST00000398888.2_Missense_Mutation_p.S250I|USP19_ENST00000398898.2_Missense_Mutation_p.S288I|USP19_ENST00000434032.2_Missense_Mutation_p.S351I|USP19_ENST00000398892.3_Missense_Mutation_p.S288I|USP19_ENST00000417901.1_Missense_Mutation_p.S351I	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													14	250					0.000219431	0.000222766	1	1	0	A	49154234	C	A	49154234	3	1	22	1	0	0	0	0	1	0	0	0	17110	797	28	2	3291	2	USP19	3	49154234	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	485	49154234	148868196	3962	6108											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	290					0	0	1	0	0	A	49159704	G	A	49159704	3	1	22	1	0	0	0	0	1	0	0	0	8650	1087	38	1	743	1	LAMB2	3	49159704	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5470	49159704	148862726	3963	6109											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	272					0	0	1	0	0	T	49162549	C	T	49162549	3	4	22	1	0	0	0	0	1	0	0	0	8650	652	23	1	2674	1	LAMB2	3	49162549	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2845	49162549	148859881	3964	6110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	180					0	0	1	0	0	T	49167044	C	T	49167044	3	4	22	1	0	0	0	0	1	0	0	0	8650	768	27	1	3973	1	LAMB2	3	49167044	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4495	49167044	148855386	3965	6111											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49168875C>T	ENST00000418109.1	-	7	813	c.648_splice	c.e7-1	p.V217_splice	LAMB2_ENST00000305544.4_Splice_Site_p.V217_splice	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													21	537					0	0	1	0	0	T	49168875	C	T	49168875	5	4	22	1	0	0	0	0	0	0	1	0	8650	521	18	2	4855	2	LAMB2	3	49168875	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1831	49168875	148853555	3966	6112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													204	1033					5.21138e-58	6.5303e-58	1	1	0	T	49168980	G	T	49168980	2	4	22	1	0	0	0	0	0	0	0	1	8650	1335	47	2		2	LAMB2	3	49168980	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105	49168980	148853450	3967	6113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	334					0	0	1	0	0	T	49293689	C	T	49293689	2	4	22	1	0	0	0	0	0	0	0	1	2827	842	30	2		2	CCDC36	3	49293689	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124709	49293689	148728741	3968	6114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	228					0	0	1	0	0	A	49332010	G	A	49332010	2	1	22	1	0	0	0	0	0	0	0	1	17131	1103	39	1		1	USP4	3	49332010	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38321	49332010	148690420	3969	6115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000488520.1_5'UTR|USP4_ENST00000265560.4_Missense_Mutation_p.I447T	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													55	214					0	0	1	0	0	G	49338072	A	G	49338072	3	3	22	1	0	0	0	0	1	0	0	0	17131	101	4	3	1599	3	USP4	3	49338072	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6062	49338072	148684358	3970	6116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49348051A>G	ENST00000351842.4	-	7	822		c.e7+1		USP4_ENST00000488520.1_Splice_Site|USP4_ENST00000265560.4_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													66	323					0	0	1	0	0	G	49348051	A	G	49348051	5	3	22	1	0	0	0	0	0	0	1	0	17131	405	14	3	1995	3	USP4	3	49348051	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9979	49348051	148674379	3971	6117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	278					0	0	1	0	0	T	49394894	C	T	49394894	3	4	22	1	0	0	0	0	1	0	0	0	6780	797	28	2	76	2	GPX1	3	49394894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46843	49394894	148627536	3972	6118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422593.1_5'UTR|NICN1_ENST00000436744.2_Missense_Mutation_p.S59I	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													15	224					4.7546e-09	4.99022e-09	1	1	0	A	49463818	C	A	49463818	3	1	22	1	0	0	0	0	1	0	0	0	10460	797	28	2	485	2	NICN1	3	49463818	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68924	49463818	148558612	3973	6119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000308775.2_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_ENST00000515359.2_Missense_Mutation_p.A375T	NM_001177634.2	NP_001171105.1	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													145	563					0	0	1	0	0	A	49569067	G	A	49569067	3	1	22	1	0	0	0	0	1	0	0	0	4249	1087	38	1	1129	1	DAG1	3	49569067	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105249	49569067	148453363	3974	6120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	201					0.014758	0.0148251	1	1	0	T	49680099	G	T	49680099	3	4	22	1	0	0	0	0	1	0	0	0	1532	991	35	2	1042	2	BSN	3	49680099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111032	49680099	148342331	3975	6121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	177					0	0	1	0	0	A	49680444	G	A	49680444	2	1	22	1	0	0	0	0	0	0	0	1	1532	1045	37	1		1	BSN	3	49680444	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	345	49680444	148341986	3976	6122											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	245					0	0	1	0	0	A	49690192	G	A	49690192	3	1	22	1	0	0	0	0	1	0	0	0	1532	1087	38	1	3221	1	BSN	3	49690192	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9748	49690192	148332238	3977	6123											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	202					0	0	1	0	0	A	49690580	G	A	49690580	2	1	22	1	0	0	0	0	0	0	0	1	1532	1306	46	2		2	BSN	3	49690580	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	388	49690580	148331850	3978	6124											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	349					0	0	1	0	0	A	49692063	G	A	49692063	3	1	22	1	0	0	0	0	1	0	0	0	1532	1175	41	2	5092	2	BSN	3	49692063	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1483	49692063	148330367	3979	6125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	379					0	0	1	0	0	A	49693296	G	A	49693296	3	1	22	1	0	0	0	0	1	0	0	0	1532	1087	38	1	6325	1	BSN	3	49693296	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1233	49693296	148329134	3980	6126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	192					0	0	1	0	0	A	49714060	G	A	49714060	3	1	22	1	0	0	0	0	1	0	0	0	764	942	33	2	793	2	APEH	3	49714060	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20764	49714060	148308370	3981	6127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000383728.3_Missense_Mutation_p.Q212H|MST1_ENST00000545762.1_3'UTR	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													14	226					1.15088e-07	1.19614e-07	1	1	0	A	49723901	C	A	49723901	3	1	22	1	0	0	0	0	1	0	0	0	9938	796	28	2	1360	2	MST1	3	49723901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9841	49723901	148298529	3982	6128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000383728.3_Intron|MST1_ENST00000545762.1_Missense_Mutation_p.C60G|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													48	265					0	0	1	0	0	C	49725205	A	C	49725205	3	2	22	1	0	0	0	0	1	0	0	0	9938	188	7	3	2025	3	MST1	3	49725205	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1304	49725205	148297225	3983	6129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													283	1172					0	0	1	0	0	A	49735349	G	A	49735349	3	1	22	1	0	0	0	0	1	0	0	0	13485	1087	38	1	392	1	RNF123	3	49735349	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10144	49735349	148287081	3984	6130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	333					0	0	1	0	0	A	49735557	G	A	49735557	3	1	22	1	0	0	0	0	1	0	0	0	13485	1087	38	1	492	1	RNF123	3	49735557	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	208	49735557	148286873	3985	6131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													159	1424					0	0	1	0	0	T	49740132	C	T	49740132	3	4	22	1	0	0	0	0	1	0	0	0	13485	768	27	1	1770	1	RNF123	3	49740132	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4575	49740132	148282298	3986	6132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	218					1.19451e-25	1.37202e-25	1	1	0	T	49742976	G	T	49742976	3	4	22	1	0	0	0	0	1	0	0	0	13485	971	34	2	2258	2	RNF123	3	49742976	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2844	49742976	148279454	3987	6133											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	228					0	0	1	0	0	A	49749963	G	A	49749963	3	1	22	1	0	0	0	0	1	0	0	0	13485	1291	45	2	2650	2	RNF123	3	49749963	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6987	49749963	148272467	3988	6134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	213					1.23713e-20	1.38774e-20	1	1	0	T	49753080	G	T	49753080	3	4	22	1	0	0	0	0	1	0	0	0	13485	971	34	2	3205	2	RNF123	3	49753080	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3117	49753080	148269350	3989	6135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	120					0	0	1	0	0	T	49753586	C	T	49753586	3	4	22	1	0	0	0	0	1	0	0	0	13485	884	31	1	3521	1	RNF123	3	49753586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	506	49753586	148268844	3990	6136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													265	1288					0	0	1	0	0	T	49753836	C	T	49753836	2	4	22	1	0	0	0	0	0	0	0	1	13485	767	27	1		1	RNF123	3	49753836	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	250	49753836	148268594	3991	6137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49757969C>A	ENST00000535833.1	-	0	2380				RNF123_ENST00000327697.6_Missense_Mutation_p.L1176M|GMPPB_ENST00000308375.6_3'UTR|RNF123_ENST00000433785.1_Missense_Mutation_p.L288M|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000497099.1_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													58	240					3.76997e-23	4.28119e-23	1	1	0	A	49757969	C	A	49757969	1	1	22	1	0	0	0	0	0	0	0	0	573	680	24	2		2	AMIGO3	3	49757969	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4133	49757969	148264461	3992	6138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000480687.1_Intron|GMPPB_ENST00000308388.6_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													9	448					0	0	1	0	0	T	49759356	C	T	49759356	2	4	22	1	0	0	0	0	0	0	0	1	6537	564	20	2		2	GMPPB	3	49759356	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1387	49759356	148263074	3993	6139											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000468463.1_3'UTR|IP6K1_ENST00000460540.1_Missense_Mutation_p.R164H	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													60	271					0	0	1	0	0	T	49764895	C	T	49764895	3	4	22	1	0	0	0	0	1	0	0	0	7832	768	27	1	343	1	IP6K1	3	49764895	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5539	49764895	148257535	3994	6140											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	168					0	0	1	0	0	T	49845353	C	T	49845353	3	4	22	1	0	0	0	0	1	0	0	0	16894	884	31	1	523	1	UBA7	3	49845353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80458	49845353	148177077	3995	6141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													200	880					1.25801e-74	1.60312e-74	1	1	0	A	49847012	C	A	49847012	3	1	22	1	0	0	0	0	1	0	0	0	16894	739	26	2	1023	2	UBA7	3	49847012	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1659	49847012	148175418	3996	6142											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	524					0	0	1	0	0	T	49847305	C	T	49847305	3	4	22	1	0	0	0	0	1	0	0	0	16894	652	23	1	1231	1	UBA7	3	49847305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	293	49847305	148175125	3997	6143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	169					0	0	1	0	0	A	49850508	G	A	49850508	3	1	22	1	0	0	0	0	1	0	0	0	16894	1115	39	1	2668	1	UBA7	3	49850508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3203	49850508	148171922	3998	6144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	146					0	0	1	0	0	C	49885589	T	C	49885589	3	2	22	1	0	0	0	0	1	0	0	0	16509	1580	55	3	1322	3	TRAIP	3	49885589	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35081	49885589	148136841	3999	6145											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002438.2	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													13	367					0	0	1	0	0	T	49924980	C	T	49924980	2	4	22	1	0	0	0	0	0	0	0	1	9939	796	28	2		2	MST1R	3	49924980	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39391	49924980	148097450	4000	6146											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002438.2	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													157	655					0	0	1	0	0	A	49929221	G	A	49929221	4	1	22	1	0	0	0	0	0	1	0	0	9939	1066	37	1	904	1	MST1R	3	49929221	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4241	49929221	148093209	4001	6147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002438.2	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													61	310					0	0	1	0	0	A	49934771	G	A	49934771	2	1	22	1	0	0	0	0	0	0	0	1	9939	933	33	2		2	MST1R	3	49934771	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5550	49934771	148087659	4002	6148											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MST1R_ENST00000344206.4_Silent_p.E248E|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438.2	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													55	266					0	0	1	0	0	C	49940299	T	C	49940299	2	2	22	1	0	0	0	0	0	0	0	1	9939	1490	52	3		3	MST1R	3	49940299	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5528	49940299	148082131	4003	6149											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MST1R_ENST00000344206.4_Missense_Mutation_p.P115S|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438.2	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													30	552					0	0	1	0	0	A	49940700	G	A	49940700	3	1	22	1	0	0	0	0	1	0	0	0	9939	1174	41	2	3939	2	MST1R	3	49940700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	401	49940700	148081730	4004	6150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000296473.3_Missense_Mutation_p.R185C|MON1A_ENST00000483022.1_5'UTR|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000455683.2_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													58	342					0	0	1	0	0	A	49949310	G	A	49949310	3	1	22	1	0	0	0	0	1	0	0	0	9747	1087	38	1	1421	1	MON1A	3	49949310	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8610	49949310	148073120	4005	6151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434342.1_Missense_Mutation_p.E479K|SEMA3F_ENST00000413852.1_Missense_Mutation_p.E411K	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													28	122					0	0	1	0	0	A	50222947	G	A	50222947	3	1	22	1	0	0	0	0	1	0	0	0	14083	1175	41	2	1578	2	SEMA3F	3	50222947	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	273637	50222947	147799483	4006	6152											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	70	352					1.34568e-36	1.61182e-36	1	1	0	T	50230697	G	T	50230697	5	4	22	1	0	0	0	0	0	0	1	0	6553	1014	35	2	159	2	GNAT1	3	50230697	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7750	50230697	147791733	4007	6153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	353					0	0	1	0	0	A	50255260	G	A	50255260	1	1	22	0	1	0	0	0	0	0	0	0	14660	1074	38	1		1	SLC38A3	3	50255260	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24563	50255260	147767170	4008	6154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451956.1_Missense_Mutation_p.A77T|GNAI2_ENST00000440628.1_Missense_Mutation_p.A62T|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000422163.1_Missense_Mutation_p.A98T|GNAI2_ENST00000536647.1_Missense_Mutation_p.A33T|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													134	759					0	0	1	0	0	A	50290492	G	A	50290492	3	1	22	1	0	0	0	0	1	0	0	0	6547	1087	38	1	365	1	GNAI2	3	50290492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35232	50290492	147731938	4009	6155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	491					0	0	1	0	0	A	50313010	G	A	50313010	1	1	22	0	1	0	0	0	0	0	0	0	14079	1145	40	1		1	SEMA3B	3	50313010	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22518	50313010	147709420	4010	6156											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395143.2_Missense_Mutation_p.R401W|HYAL1_ENST00000320295.8_Missense_Mutation_p.R431W|HYAL1_ENST00000457214.2_Missense_Mutation_p.R249W|HYAL1_ENST00000447605.2_Missense_Mutation_p.R172W			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													14	384					0	0	1	0	0	A	50337931	G	A	50337931	3	1	22	1	0	0	0	0	1	0	0	0	7507	1086	38	1	20	1	HYAL1	3	50337931	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24921	50337931	147684499	4011	6157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395143.2_Missense_Mutation_p.S239I|HYAL1_ENST00000320295.8_Missense_Mutation_p.S239I|HYAL1_ENST00000457214.2_Missense_Mutation_p.S57I|HYAL1_ENST00000447605.2_Intron			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													20	237					1.64113e-05	1.68037e-05	1	1	0	A	50339672	C	A	50339672	3	1	22	1	0	0	0	0	1	0	0	0	7507	797	28	2	603	2	HYAL1	3	50339672	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1741	50339672	147682758	4012	6158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442581.1_Silent_p.Y291Y|HYAL2_ENST00000395139.3_Silent_p.Y291Y|HYAL2_ENST00000357750.4_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													33	129					0	0	1	0	0	A	50357048	G	A	50357048	2	1	22	1	0	0	0	0	0	0	0	1	7508	1140	40	1		1	HYAL2	3	50357048	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17376	50357048	147665382	4013	6159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Missense_Mutation_p.R288W|ZMYND10_ENST00000490675.1_Intron	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)			66	365					0	0	1	0	0	A	50379568	G	A	50379568	3	1	22	1	0	0	0	0	1	0	0	0	17763	1057	37	1	461	1	ZMYND10	3	50379568	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22520	50379568	147642862	4014	6160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	256					0	0	1	0	0	A	50385985	G	A	50385985	2	1	22	1	0	0	0	0	0	0	0	1	10645	1074	38	1		1	NPRL2	3	50385985	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6417	50385985	147636445	4015	6161	37	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	268					4.64241e-40	5.62287e-40	1	1	0	T	50385991	G	T	50385991	4	4	22	1	0	0	0	0	0	1	0	0	10645	1024	36	2	475	2	NPRL2	3	50385991	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6	50385991	147636439	4016	6162	37	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479441.1_Silent_p.T626T|CACNA2D2_ENST00000395083.1_Silent_p.T626T|CACNA2D2_ENST00000423994.2_Silent_p.T626T|CACNA2D2_ENST00000360963.3_Silent_p.T557T|CACNA2D2_ENST00000429770.1_Silent_p.T626T|CACNA2D2_ENST00000266039.3_Silent_p.T626T|CACNA2D2_ENST00000424201.2_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													66	319					0	0	1	0	0	A	50413104	G	A	50413104	2	1	22	1	0	0	0	0	0	0	0	1	2567	987	35	2		2	CACNA2D2	3	50413104	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27113	50413104	147609326	4017	6163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434410.1_Missense_Mutation_p.L3I|HEMK1_ENST00000455834.1_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													27	336					2.48779e-11	2.65321e-11	1	1	0	A	50608542	C	A	50608542	3	1	22	1	0	0	0	0	1	0	0	0	7092	797	28	2	9	2	HEMK1	3	50608542	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195438	50608542	147413888	4018	6164											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	430					0	0	1	0	0	A	50685354	G	A	50685354	3	1	22	1	0	0	0	0	1	0	0	0	9340	1319	46	2	1064	2	MAPKAPK3	3	50685354	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76812	50685354	147337076	4019	6165											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	144					0	0	1	0	0	G	51251556	T	G	51251556	3	3	22	1	0	0	0	0	1	0	0	0	4715	1609	56	3	1184	3	DOCK3	3	51251556	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	566202	51251556	146770874	4020	6166											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	398					1.55023e-36	1.85648e-36	1	1	0	A	51263178	C	A	51263178	3	1	22	1	0	0	0	0	1	0	0	0	4715	797	28	2	1409	2	DOCK3	3	51263178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11622	51263178	146759252	4021	6167											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													145	584					1.13124e-70	1.43728e-70	1	1	0	A	51264771	C	A	51264771	3	1	22	1	0	0	0	0	1	0	0	0	4715	681	24	2	1497	2	DOCK3	3	51264771	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1593	51264771	146757659	4022	6168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	187					0	0	1	0	0	T	51394453	C	T	51394453	3	4	22	1	0	0	0	0	1	0	0	0	4715	536	19	1	4738	1	DOCK3	3	51394453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129682	51394453	146627977	4023	6169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	197					0	0	1	0	0	T	51399995	C	T	51399995	3	4	22	1	0	0	0	0	1	0	0	0	4715	507	18	2	5377	2	DOCK3	3	51399995	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5542	51399995	146622435	4024	6170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	421					0	0	1	0	0	T	51457286	C	T	51457286	2	4	22	1	0	0	0	0	0	0	0	1	17245	755	27	1		1	VPRBP	3	51457286	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57291	51457286	146565144	4025	6171											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	336					0	0	1	0	0	A	51457767	G	A	51457767	3	1	22	1	0	0	0	0	1	0	0	0	17245	1203	42	2	1910	2	VPRBP	3	51457767	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	481	51457767	146564663	4026	6172											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	434					0	0	1	0	0	G	51458120	A	G	51458120	2	3	22	1	0	0	0	0	0	0	0	1	17245	388	14	3		3	VPRBP	3	51458120	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	353	51458120	146564310	4027	6173											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51517735C>A	ENST00000335891.5	-	1	119	c.110_splice	c.e1+1	p.R37_splice				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													79	380					1.25742e-37	1.51121e-37	1	1	0	A	51517735	C	A	51517735	5	1	22	1	0	0	0	0	0	0	1	0	17245	695	24	2	4342	2	VPRBP	3	51517735	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59615	51517735	146504695	4028	6174											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.A9T	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													38	136					0	0	1	0	0	A	51743024	G	A	51743024	3	1	22	1	0	0	0	0	1	0	0	0	6838	1203	42	2	27	2	GRM2	3	51743024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	225289	51743024	146279406	4029	6175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.A114T	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													68	286					0	0	1	0	0	A	51743339	G	A	51743339	3	1	22	1	0	0	0	0	1	0	0	0	6838	1319	46	2	342	2	GRM2	3	51743339	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	315	51743339	146279091	4030	6176											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	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													14	190					0	0	1	0	0	T	51749343	C	T	51749343	2	4	22	1	0	0	0	0	0	0	0	1	6838	805	28	2		2	GRM2	3	51749343	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6004	51749343	146273087	4031	6177											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	428					0	0	1	0	0	T	51897380	C	T	51897380	2	4	22	1	0	0	0	0	0	0	0	1	7852	564	20	2		2	IQCF2	3	51897380	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148037	51897380	146125050	4032	6178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	465					0	0	1	0	0	T	51929102	C	T	51929102	3	4	22	1	0	0	0	0	1	0	0	0	7851	768	27	1	199	1	IQCF1	3	51929102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31722	51929102	146093328	4033	6179											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	64					0	0	1	0	0	A	51990245	G	A	51990245	3	1	22	1	0	0	0	0	1	0	0	0	6743	1116	39	1	579	1	GPR62	3	51990245	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61143	51990245	146032185	4034	6180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	145					0	0	1	0	0	T	51990621	C	T	51990621	3	4	22	1	0	0	0	0	1	0	0	0	6743	652	23	1	955	1	GPR62	3	51990621	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	376	51990621	146031809	4035	6181											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ACY1_ENST00000458031.2_Intron|ABHD14A_ENST00000491470.1_Intron|ABHD14B_ENST00000483233.1_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													106	386					0	0	1	0	0	T	52014483	C	T	52014483	3	4	22	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	4036	6182											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	377					2.61895e-37	3.14394e-37	1	1	0	T	52087977	G	T	52087977	3	4	22	1	0	0	0	0	1	0	0	0	4856	1232	43	2	336	2	DUSP7	3	52087977	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73494	52087977	145934453	4037	6183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000474012.1_Missense_Mutation_p.V267I|POC1A_ENST00000296484.2_Missense_Mutation_p.V305I	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													18	251					0	0	1	0	0	T	52156463	C	T	52156463	3	4	22	1	0	0	0	0	1	0	0	0	12223	478	17	2	322	2	POC1A	3	52156463	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68486	52156463	145865967	4038	6184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	332					0	0	1	0	0	T	52181054	C	T	52181054	2	4	22	1	0	0	0	0	0	0	0	1	12223	465	17	2		2	POC1A	3	52181054	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24591	52181054	145841376	4039	6185											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	591					1.20306e-52	1.49704e-52	1	1	0	A	52185074	C	A	52185074	3	1	22	1	0	0	0	0	1	0	0	0	12223	710	25	2	1202	2	POC1A	3	52185074	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4020	52185074	145837356	4040	6186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000310271.2_Silent_p.S311S|ALAS1_ENST00000484952.1_Silent_p.S311S|ALAS1_ENST00000469224.1_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													107	324					0	0	1	0	0	A	52239987	G	A	52239987	2	1	22	1	0	0	0	0	0	0	0	1	481	1132	40	1		1	ALAS1	3	52239987	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54913	52239987	145782443	4041	6187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000494383.1_Missense_Mutation_p.C910Y|TLR9_ENST00000360658.2_Missense_Mutation_p.V757I			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													76	381					0	0	1	0	0	T	52256063	C	T	52256063	3	4	22	1	0	0	0	0	1	0	0	0	16018	478	17	2	833	2	TLR9	3	52256063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16076	52256063	145766367	4042	6188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000494383.1_Silent_p.P857P|TLR9_ENST00000360658.2_Missense_Mutation_p.R704Q			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													36	398					0	0	1	0	0	T	52256221	C	T	52256221	3	4	22	1	0	0	0	0	1	0	0	0	16018	652	23	1	991	1	TLR9	3	52256221	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158	52256221	145766209	4043	6189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000494383.1_Silent_p.P410P|TLR9_ENST00000360658.2_Missense_Mutation_p.R257H			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													26	142					0	0	1	0	0	T	52257562	C	T	52257562	3	4	22	1	0	0	0	0	1	0	0	0	16018	768	27	1	2332	1	TLR9	3	52257562	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1341	52257562	145764868	4044	6190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000597542.1_Silent_p.H64H|TLR9_ENST00000360658.2_Silent_p.H40H			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													32	250					0	0	1	0	0	A	52258212	G	A	52258212	3	1	22	1	0	0	0	0	1	0	0	0	16018	1136	40	1	2982	1	TLR9	3	52258212	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	650	52258212	145764218	4045	6191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Missense_Mutation_p.P146L|TLR9_ENST00000494383.1_Silent_p.P6P	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													95	578					0	0	1	0	0	A	52265189	G	A	52265189	3	1	22	1	0	0	0	0	1	0	0	0	16844	1116	39	1	632	1	TWF2	3	52265189	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6977	52265189	145757241	4046	6192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Missense_Mutation_p.R72C	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)	74	295					0	0	1	0	0	A	52266028	G	A	52266028	3	1	22	1	0	0	0	0	1	0	0	0	16844	1116	39	1	863	1	TWF2	3	52266028	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	839	52266028	145756402	4047	6193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056327.4	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													6	31					0	0	1	0	0	A	52357823	G	A	52357823	5	1	22	1	0	0	0	0	0	0	1	0	4625	1014	35	2	339	2	DNAH1	3	52357823	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91795	52357823	145664607	4048	6194											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056327.4	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													11	29					0	0	1	0	0	A	52357834	G	A	52357834	3	1	22	1	0	0	0	0	1	0	0	0	4625	1145	40	1	350	1	DNAH1	3	52357834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11	52357834	145664596	4049	6195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056327.4	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													6	27					0	0	1	0	0	T	52357889	C	T	52357889	2	4	22	1	0	0	0	0	0	0	0	1	4625	610	22	2		2	DNAH1	3	52357889	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	52357889	145664541	4050	6196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056327.4	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													8	118					0	0	1	0	0	A	52360312	G	A	52360312	3	1	22	1	0	0	0	0	1	0	0	0	4625	1087	38	1	573	1	DNAH1	3	52360312	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2423	52360312	145662118	4051	6197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056327.4	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													6	196					0	0	1	0	0	A	52360809	G	A	52360809	3	1	22	1	0	0	0	0	1	0	0	0	4625	1058	37	1	654	1	DNAH1	3	52360809	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	497	52360809	145661621	4052	6198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056327.4	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													58	274					0	0	1	0	0	A	52383039	G	A	52383039	3	1	22	1	0	0	0	0	1	0	0	0	4625	1087	38	1	2288	1	DNAH1	3	52383039	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22230	52383039	145639391	4053	6199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056327.4	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													53	226					1.32667e-27	1.53764e-27	1	1	0	A	52389063	C	A	52389063	3	1	22	1	0	0	0	0	1	0	0	0	4625	796	28	2	3763	2	DNAH1	3	52389063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6024	52389063	145633367	4054	6200											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056327.4	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													188	773					9.20498e-97	1.18326e-96	1	1	0	A	52393941	C	A	52393941	3	1	22	1	0	0	0	0	1	0	0	0	4625	912	32	2	4519	2	DNAH1	3	52393941	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4878	52393941	145628489	4055	6201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056327.4	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													16	87					0	0	1	0	0	T	52404631	C	T	52404631	3	4	22	1	0	0	0	0	1	0	0	0	4625	797	28	2	6551	2	DNAH1	3	52404631	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10690	52404631	145617799	4056	6202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056327.4	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)	23	107					0	0	1	0	0	A	52418934	G	A	52418934	3	1	22	1	0	0	0	0	1	0	0	0	4625	1116	39	1	8661	1	DNAH1	3	52418934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14303	52418934	145603496	4057	6203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056327.4	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													21	78					0	0	1	0	0	T	52425296	C	T	52425296	2	4	22	1	0	0	0	0	0	0	0	1	4625	535	19	1		1	DNAH1	3	52425296	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6362	52425296	145597134	4058	6204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056327.4	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													7	48					0	0	1	0	0	T	52429072	C	T	52429072	2	4	22	1	0	0	0	0	0	0	0	1	4625	610	22	2		2	DNAH1	3	52429072	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3776	52429072	145593358	4059	6205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000478707.1_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													11	361					0	0	1	0	0	G	52448595	T	G	52448595	3	3	22	1	0	0	0	0	1	0	0	0	11887	1841	64	3	188	3	PHF7	3	52448595	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19523	52448595	145573835	4060	6206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	376					4.73232e-52	5.88258e-52	1	1	0	T	52474045	G	T	52474045	3	4	22	1	0	0	0	0	1	0	0	0	14084	962	34	2	1159	2	SEMA3G	3	52474045	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25450	52474045	145548385	4061	6207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	385					0	0	1	0	0	A	52475298	G	A	52475298	2	1	22	1	0	0	0	0	0	0	0	1	14084	1074	38	1		1	SEMA3G	3	52475298	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1253	52475298	145547132	4062	6208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	226					0	0	1	0	0	A	52485422	G	A	52485422	3	1	22	1	0	0	0	0	1	0	0	0	16384	1116	39	1	54	1	TNNC1	3	52485422	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10124	52485422	145537008	4063	6209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	253					0	0	1	0	0	A	52485481	G	A	52485481	3	1	22	1	0	0	0	0	1	0	0	0	16384	1261	44	2	113	2	TNNC1	3	52485481	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59	52485481	145536949	4064	6210											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420808.2_Missense_Mutation_p.R478Q|NISCH_ENST00000479054.1_Missense_Mutation_p.R478Q	NM_007184.3	NP_009115.2	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													13	612					0	0	1	0	0	A	52514216	G	A	52514216	3	1	22	1	0	0	0	0	1	0	0	0	10479	1116	39	1	1483	1	NISCH	3	52514216	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28735	52514216	145508214	4065	6211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_009115.2	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													105	508					0	0	1	0	0	T	52521339	C	T	52521339	3	4	22	1	0	0	0	0	1	0	0	0	10479	643	23	1	1893	1	NISCH	3	52521339	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7123	52521339	145501091	4066	6212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_009115.2	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													18	401					0	0	1	0	0	A	52521711	G	A	52521711	3	1	22	1	0	0	0	0	1	0	0	0	10479	1116	39	1	2265	1	NISCH	3	52521711	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	372	52521711	145500719	4067	6213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_009115.2	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													43	153					0	0	1	0	0	A	52521950	G	A	52521950	2	1	22	1	0	0	0	0	0	0	0	1	10479	962	34	2		2	NISCH	3	52521950	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	239	52521950	145500480	4068	6214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_009115.2	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													235	921					0	0	1	0	0	A	52526255	G	A	52526255	2	1	22	1	0	0	0	0	0	0	0	1	10479	933	33	2		2	NISCH	3	52526255	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4305	52526255	145496175	4069	6215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	55					6.94344e-10	7.33246e-10	1	1	0	T	52538065	G	T	52538065	3	4	22	1	0	0	0	0	1	0	0	0	15293	991	35	2	1082	2	STAB1	3	52538065	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11810	52538065	145484365	4070	6216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	136					0	0	1	0	0	A	52539356	G	A	52539356	3	1	22	1	0	0	0	0	1	0	0	0	15293	1087	38	1	1594	1	STAB1	3	52539356	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1291	52539356	145483074	4071	6217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52540865C>T	ENST00000321725.6	+	18	2064	c.1989_splice	c.e18+1	p.A663_splice		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													66	260					0	0	1	0	0	T	52540865	C	T	52540865	5	4	22	1	0	0	0	0	0	0	1	0	15293	782	27	1	2058	1	STAB1	3	52540865	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1509	52540865	145481565	4072	6218											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	359					0	0	1	0	0	A	52542317	G	A	52542317	3	1	22	1	0	0	0	0	1	0	0	0	15293	1232	43	2	2259	2	STAB1	3	52542317	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1452	52542317	145480113	4073	6219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	148					0	0	1	0	0	T	52543325	C	T	52543325	4	4	22	1	0	0	0	0	0	1	0	0	15293	711	25	2	2421	2	STAB1	3	52543325	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1008	52543325	145479105	4074	6220											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	132					0	0	1	0	0	A	52550718	G	A	52550718	3	1	22	1	0	0	0	0	1	0	0	0	15293	1174	41	2	4459	2	STAB1	3	52550718	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7393	52550718	145471712	4075	6221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	222					0	0	1	0	0	A	52554039	G	A	52554039	3	1	22	1	0	0	0	0	1	0	0	0	15293	1058	37	1	5517	1	STAB1	3	52554039	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3321	52554039	145468391	4076	6222											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													119	487					0	0	1	0	0	A	52556666	G	A	52556666	3	1	22	1	0	0	0	0	1	0	0	0	15293	1145	40	1	6948	1	STAB1	3	52556666	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2627	52556666	145465764	4077	6223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	397					0	0	1	0	0	A	52556948	G	A	52556948	3	1	22	1	0	0	0	0	1	0	0	0	15293	1145	40	1	7148	1	STAB1	3	52556948	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	282	52556948	145465482	4078	6224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422318.2_Silent_p.P528P|NT5DC2_ENST00000307092.4_Silent_p.P432P|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													82	391					0	0	1	0	0	T	52558576	C	T	52558576	2	4	22	1	0	0	0	0	0	0	0	1	10739	755	27	1		1	NT5DC2	3	52558576	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1628	52558576	145463854	4079	6225											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422318.2_Missense_Mutation_p.R372W|NT5DC2_ENST00000307092.4_Missense_Mutation_p.R276W|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													33	179					0	0	1	0	0	A	52561315	G	A	52561315	3	1	22	1	0	0	0	0	1	0	0	0	10739	1057	37	1	579	1	NT5DC2	3	52561315	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2739	52561315	145461115	4080	6226											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													219	820					2.48479e-74	3.1658e-74	1	1	0	A	52568642	C	A	52568642	4	1	22	1	0	0	0	0	0	1	0	0	10739	864	30	2	1826	2	NT5DC2	3	52568642	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7327	52568642	145453788	4081	6227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409767.1_Missense_Mutation_p.R1111C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1096C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R1096C|PBRM1_ENST00000296302.7_Missense_Mutation_p.R1096C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R1071C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R1111C			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"								126	468					0	0	1	0	0	A	52620542	G	A	52620542	3	1	22	1	0	0	0	0	1	0	0	0	11538	1058	37	1	1658	1	PBRM1	3	52620542	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51900	52620542	145401888	4082	6228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409767.1_Missense_Mutation_p.R891C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R876C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R876C|PBRM1_ENST00000296302.7_Missense_Mutation_p.R876C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R876C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R891C			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"								30	159					0	0	1	0	0	A	52637690	G	A	52637690	3	1	22	1	0	0	0	0	1	0	0	0	11538	1058	37	1	2330	1	PBRM1	3	52637690	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17148	52637690	145384740	4083	6229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000487686.1_3'UTR|ITIH1_ENST00000542827.1_Missense_Mutation_p.S210A|ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000540715.1_Missense_Mutation_p.S68A	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													33	133					0	0	1	0	0	G	52814339	T	G	52814339	3	3	22	1	0	0	0	0	1	0	0	0	7947	1551	54	3	650	3	ITIH1	3	52814339	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	176649	52814339	145208091	4084	6230											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	106					0	0	1	0	0	T	52830660	C	T	52830660	3	4	22	1	0	0	0	0	1	0	0	0	7949	507	18	2	288	2	ITIH3	3	52830660	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16321	52830660	145191770	4085	6231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	66					0	0	1	0	0	G	52831234	A	G	52831234	3	3	22	1	0	0	0	0	1	0	0	0	7949	391	14	3	518	3	ITIH3	3	52831234	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	574	52831234	145191196	4086	6232											
ITIH4	3700	broad.mit.edu	37	chr3	52853933	52853933	+	Frame_Shift_Del	DEL	C	C	-													ccaatctgtcaatctcccctCcccccacctcctactttgtc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52853933delC	ENST00000434759.3	-	14	1819	c.1671delG	c.(1669-1671)ggfs	p.G557fs	ITIH4_ENST00000485816.1_Intron|ITIH4_ENST00000406595.1_Intron|ITIH4_ENST00000346281.5_Intron|ITIH4_ENST00000266041.4_Intron			Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	0					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				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)		AATCTCCCCTCCCCCCACCTC	0.537													43	1026	---	---	---	---						-	52853933	C	-	52853933	7	5	22	1	0	1	0	1	0	0	0	0	7950	870	30	0		0	ITIH4	3	52853933	Frame_Shift_Del	DEL	C	TCGA-IB-7651-01A-11D-2154-08	22699	52853933	145168497	4087	6233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	433					0	0	1	0	0	T	52877754	C	T	52877754	3	4	22	1	0	0	0	0	1	0	0	0	16087	536	19	1	295	1	TMEM110	3	52877754	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23821	52877754	145144676	4088	6234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	339					5.00163e-47	6.15206e-47	1	1	0	T	52877775	G	T	52877775	3	4	22	1	0	0	0	0	1	0	0	0	16087	962	34	2	316	2	TMEM110	3	52877775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	52877775	145144655	4089	6235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358080.2_Missense_Mutation_p.T405I|SFMBT1_ENST00000296295.6_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													181	774					0	0	1	0	0	A	52955765	G	A	52955765	3	1	22	1	0	0	0	0	1	0	0	0	14211	1261	44	2	1430	2	SFMBT1	3	52955765	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77990	52955765	145066665	4090	6236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	184					0	0	1	0	0	G	53220225	A	G	53220225	3	3	22	1	0	0	0	0	1	0	0	0	12561	217	8	3	1171	3	PRKCD	3	53220225	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	264460	53220225	144802205	4091	6237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Silent_p.I278I|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													51	223					0	0	1	0	0	A	53265481	G	A	53265481	2	1	22	1	0	0	0	0	0	0	0	1	15994	1164	41	2		2	TKT	3	53265481	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45256	53265481	144756949	4092	6238											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Missense_Mutation_p.S256Y|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													38	195					8.69298e-16	9.51602e-16	1	1	0	T	53265548	G	T	53265548	3	4	22	1	0	0	0	0	1	0	0	0	15994	942	33	2	1136	2	TKT	3	53265548	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	53265548	144756882	4093	6239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53529248G>A	ENST00000288139.3	+	1	173	c.55G>A	c.(55-57)Gac>Aac	p.D19N	CACNA1D_ENST00000350061.5_Missense_Mutation_p.D19N|CACNA1D_ENST00000422281.2_Missense_Mutation_p.D19N	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	19					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													26	558					0	0	1	0	0	A	53529248	G	A	53529248	3	1	22	1	0	0	0	0	1	0	0	0	2559	1174	41	2	57	2	CACNA1D	3	53529248	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263700	53529248	144493182	4094	6240											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53684805G>T	ENST00000288139.3	+	4	601		c.e4-1		CACNA1D_ENST00000350061.5_Splice_Site|CACNA1D_ENST00000422281.2_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													52	359					6.3008e-33	7.45475e-33	1	1	0	T	53684805	G	T	53684805	5	4	22	1	0	0	0	0	0	0	1	0	2559	1014	35	2	497	2	CACNA1D	3	53684805	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155557	53684805	144337625	4095	6241											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53699719G>A	ENST00000288139.3	+	6	917	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	CACNA1D_ENST00000350061.5_Missense_Mutation_p.A267T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A267T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	267					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													83	455					0	0	1	0	0	A	53699719	G	A	53699719	3	1	22	1	0	0	0	0	1	0	0	0	2559	971	34	2	821	2	CACNA1D	3	53699719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14914	53699719	144322711	4096	6242											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53700441A>C	ENST00000288139.3	+	7	1113	c.995A>C	c.(994-996)gAa>gCa	p.E332A	CACNA1D_ENST00000350061.5_Missense_Mutation_p.E332A|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E332A	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	332					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													179	883					0	0	1	0	0	C	53700441	A	C	53700441	3	2	22	1	0	0	0	0	1	0	0	0	2559	246	9	3	1021	3	CACNA1D	3	53700441	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	722	53700441	144321989	4097	6243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53837449G>A	ENST00000288139.3	+	45	5613		c.e45-1		CACNA1D_ENST00000544977.1_Splice_Site|CACNA1D_ENST00000350061.5_Splice_Site|CACNA1D_ENST00000422281.2_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													133	511					0	0	1	0	0	A	53837449	G	A	53837449	5	1	22	1	0	0	0	0	0	0	1	0	2559	1014	35	2	5781	2	CACNA1D	3	53837449	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137008	53837449	144184981	4098	6244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53853618A>C	ENST00000315251.5	-	7	1641	c.1204T>G	c.(1204-1206)Ttc>Gtc	p.F402V		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	402					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													81	291					0	0	1	0	0	C	53853618	A	C	53853618	3	2	22	1	0	0	0	0	1	0	0	0	3355	14	1	3	592	3	CHDH	3	53853618	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16169	53853618	144168812	4099	6245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	58					0	0	1	0	0	T	53907062	C	T	53907062	2	4	22	1	0	0	0	0	0	0	0	1	216	697	25	2		2	ACTR8	3	53907062	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53444	53907062	144115368	4100	6246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	175					0	0	1	0	0	G	53911410	A	G	53911410	3	3	22	1	0	0	0	0	1	0	0	0	216	131	5	3	1395	3	ACTR8	3	53911410	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4348	53911410	144111020	4101	6247											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:54420803T>C	ENST00000474759.1	+	4	429		c.e4+2		CACNA2D3_ENST00000415676.2_Splice_Site|CACNA2D3_ENST00000288197.5_Splice_Site|CACNA2D3_ENST00000490478.1_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													18	51					0	0	1	0	0	C	54420803	T	C	54420803	5	2	22	1	0	0	0	0	0	0	1	0	2568	1652	57	3	397	3	CACNA2D3	3	54420803	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	509393	54420803	143601627	4102	6248											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415676.2_Silent_p.G893G|CACNA2D3_ENST00000288197.5_Silent_p.G893G|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Silent_p.G799G	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													25	119					0	0	1	0	0	T	55021769	C	T	55021769	2	4	22	1	0	0	0	0	0	0	0	1	2568	784	28	2		2	CACNA2D3	3	55021769	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	600966	55021769	143000661	4103	6249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415676.2_Missense_Mutation_p.R1042H|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R1042H|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R948H	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													26	106					0	0	1	0	0	A	55107828	G	A	55107828	3	1	22	1	0	0	0	0	1	0	0	0	2568	1145	40	1	3271	1	CACNA2D3	3	55107828	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86059	55107828	142914602	4104	6250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000497027.1_Missense_Mutation_p.V350I|WNT5A_ENST00000264634.4_Missense_Mutation_p.V365I			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													17	434					0	0	1	0	0	T	55504170	C	T	55504170	3	4	22	1	0	0	0	0	1	0	0	0	17451	536	19	1	53	1	WNT5A	3	55504170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	396342	55504170	142518260	4105	6251											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000497027.1_Missense_Mutation_p.V335M|WNT5A_ENST00000264634.4_Missense_Mutation_p.V350M			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													14	452					0	0	1	0	0	T	55504215	C	T	55504215	3	4	22	1	0	0	0	0	1	0	0	0	17451	536	19	1	98	1	WNT5A	3	55504215	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45	55504215	142518215	4106	6252											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000497027.1_Silent_p.A184A|WNT5A_ENST00000264634.4_Silent_p.A199A			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													23	113					6.44725e-10	6.81304e-10	1	1	0	T	55508452	G	T	55508452	2	4	22	1	0	0	0	0	0	0	0	1	17451	1219	43	2		2	WNT5A	3	55508452	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4237	55508452	142513978	4107	6253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	141					0	0	1	0	0	A	55768825	G	A	55768825	4	1	22	1	0	0	0	0	0	1	0	0	5239	1124	39	1	199	1	ERC2	3	55768825	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	260373	55768825	142253605	4108	6254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	436					0	0	1	0	0	T	56044551	C	T	56044551	3	4	22	1	0	0	0	0	1	0	0	0	5239	922	32	2	1053	2	ERC2	3	56044551	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	275726	56044551	141977879	4109	6255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	213					5.82388e-19	6.47979e-19	1	1	0	A	56330455	C	A	56330455	3	1	22	1	0	0	0	0	1	0	0	0	5239	564	20	2	2257	2	ERC2	3	56330455	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	285904	56330455	141691975	4110	6256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	186					0	0	1	0	0	G	56468991	A	G	56468991	2	3	22	1	0	0	0	0	0	0	0	1	5239	59	3	3		3	ERC2	3	56468991	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	138536	56468991	141553439	4111	6257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	351					0	0	1	0	0	T	56653485	C	T	56653485	2	4	22	1	0	0	0	0	0	0	0	1	2858	903	32	2		2	CCDC66	3	56653485	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	184494	56653485	141368945	4112	6258											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000320057.5_Silent_p.T381T|IL17RD_ENST00000463523.1_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													35	166					0	0	1	0	0	T	57132156	C	T	57132156	2	4	22	1	0	0	0	0	0	0	0	1	7686	755	27	1		1	IL17RD	3	57132156	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	478671	57132156	140890274	4113	6259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													276	1194					0	0	1	0	0	A	57232919	G	A	57232919	2	1	22	1	0	0	0	0	0	0	0	1	7113	1078	38	1		1	HESX1	3	57232919	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100763	57232919	140789511	4114	6260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													164	827					0	0	1	0	0	T	57294725	C	T	57294725	3	4	22	1	0	0	0	0	1	0	0	0	814	875	31	1	1839	1	APPL1	3	57294725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61806	57294725	140727705	4115	6261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000311202.6_Silent_p.P265P|DNAH12_ENST00000389536.4_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													86	332					0	0	1	0	0	G	57493472	T	G	57493472	2	3	22	1	0	0	0	0	0	0	0	1	4628	1799	63	3		3	DNAH12	3	57493472	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	198747	57493472	140528958	4116	6262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000311202.6_Missense_Mutation_p.L169F|DNAH12_ENST00000389536.4_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													10	388					0	0	1	0	0	A	57494904	G	A	57494904	3	1	22	1	0	0	0	0	1	0	0	0	4628	971	34	2	9032	2	DNAH12	3	57494904	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1432	57494904	140527526	4117	6263	38	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000311202.6_Silent_p.S168S|DNAH12_ENST00000389536.4_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													70	327					0	0	1	0	0	T	57494905	C	T	57494905	2	4	22	1	0	0	0	0	0	0	0	1	4628	755	27	1		1	DNAH12	3	57494905	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1	57494905	140527525	4118	6264	38	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000311202.6_Silent_p.L156L|DNAH12_ENST00000389536.4_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													45	249					0	0	1	0	0	G	57496520	A	G	57496520	2	3	22	1	0	0	0	0	0	0	0	1	4628	11	1	3		3	DNAH12	3	57496520	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1615	57496520	140525910	4119	6265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000496292.1_Missense_Mutation_p.A106D|ARF4_ENST00000489843.1_Missense_Mutation_p.A24D	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													65	279					8.52622e-23	9.66497e-23	1	1	0	T	57561333	G	T	57561333	3	4	22	1	0	0	0	0	1	0	0	0	843	971	34	2	152	2	ARF4	3	57561333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64813	57561333	140461097	4120	6266											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348383.5_Missense_Mutation_p.N411D|FLNB_ENST00000358537.3_Missense_Mutation_p.N411D|FLNB_ENST00000429972.2_Missense_Mutation_p.N411D|FLNB_ENST00000419752.2_Missense_Mutation_p.N242D|FLNB_ENST00000493452.1_Missense_Mutation_p.N242D|FLNB_ENST00000295956.4_Missense_Mutation_p.N411D|FLNB_ENST00000490882.1_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													13	466					0	0	1	0	0	G	58084521	A	G	58084521	3	3	22	1	0	0	0	0	1	0	0	0	5967	14	1	3	1261	3	FLNB	3	58084521	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	523188	58084521	139937909	4121	6267											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394549.2_Missense_Mutation_p.V197I|DNASE1L3_ENST00000318316.3_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													42	195					0	0	1	0	0	T	58183663	C	T	58183663	3	4	22	1	0	0	0	0	1	0	0	0	4690	536	19	1	340	1	DNASE1L3	3	58183663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99142	58183663	139838767	4122	6268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	453					0	0	1	0	0	T	58252923	C	T	58252923	3	4	22	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	4123	6269											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	376					3.37205e-40	4.08638e-40	1	1	0	T	58260429	G	T	58260429	4	4	22	1	0	0	0	0	0	1	0	0	86	943	33	2	586	2	ABHD6	3	58260429	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7506	58260429	139762001	4124	6270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000484288.1_Silent_p.S332S|PXK_ENST00000383715.4_Silent_p.S315S|PXK_ENST00000479241.1_Silent_p.S315S|PXK_ENST00000302779.5_Silent_p.S315S|PXK_ENST00000383716.3_Silent_p.S299S|PXK_ENST00000356151.2_Silent_p.S332S|PXK_ENST00000536660.1_Silent_p.S195S			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													166	731					0	0	1	0	0	C	58383343	T	C	58383343	2	2	22	1	0	0	0	0	0	0	0	1	12901	1693	59	3		3	PXK	3	58383343	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	122914	58383343	139639087	4125	6271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000484288.1_Nonsense_Mutation_p.R464*|PXK_ENST00000383715.4_Nonsense_Mutation_p.R447*|PXK_ENST00000479241.1_Nonsense_Mutation_p.R447*|PXK_ENST00000302779.5_Nonsense_Mutation_p.R447*|PXK_ENST00000383716.3_Nonsense_Mutation_p.R431*|PXK_ENST00000356151.2_Nonsense_Mutation_p.R464*|PXK_ENST00000536660.1_Nonsense_Mutation_p.R327*			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													27	126					0	0	1	0	0	T	58395340	C	T	58395340	4	4	22	1	0	0	0	0	0	1	0	0	12901	876	31	1	1448	1	PXK	3	58395340	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11997	58395340	139627090	4126	6272											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000490264.1_Missense_Mutation_p.T116A|KCTD6_ENST00000404589.3_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													25	433					0	0	1	0	0	G	58486991	A	G	58486991	3	3	22	1	0	0	0	0	1	0	0	0	8157	391	14	3	352	3	KCTD6	3	58486991	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	91651	58486991	139535439	4127	6273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000490264.1_Missense_Mutation_p.G180E|KCTD6_ENST00000404589.3_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													71	300					0	0	1	0	0	A	58487184	G	A	58487184	3	1	22	1	0	0	0	0	1	0	0	0	8157	1174	41	2	545	2	KCTD6	3	58487184	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	193	58487184	139535246	4128	6274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	140					0	0	1	0	0	C	58512232	T	C	58512232	3	2	22	1	0	0	0	0	1	0	0	0	159	1638	57	3	762	3	ACOX2	3	58512232	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25048	58512232	139510198	4129	6275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	105					0	0	1	0	0	T	58622881	C	T	58622881	3	4	22	1	0	0	0	0	1	0	0	0	5595	884	31	1	241	1	FAM3D	3	58622881	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110649	58622881	139399549	4130	6276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	171					0	0	1	0	0	A	58739540	G	A	58739540	3	1	22	1	0	0	0	0	1	0	0	0	2255	1116	39	1	164	1	C3orf67	3	58739540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116659	58739540	139282890	4131	6277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|C3orf67_ENST00000295966.7_Missense_Mutation_p.S171P|RP11-147N17.1_ENST00000463703.1_RNA|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													95	311					0	0	1	0	0	G	58855183	A	G	58855183	3	3	22	1	0	0	0	0	1	0	0	0	2255	333	12	3	1212	3	C3orf67	3	58855183	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	115643	58855183	139167247	4132	6278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	343					0	0	1	0	0	T	61989075	C	T	61989075	2	4	22	1	0	0	0	0	0	0	0	1	12854	697	25	2		2	PTPRG	3	61989075	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3133892	61989075	136033355	4133	6279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	216					0	0	1	0	0	T	62153813	C	T	62153813	3	4	22	1	0	0	0	0	1	0	0	0	12854	623	22	2	1039	2	PTPRG	3	62153813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	164738	62153813	135868617	4134	6280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000495542.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.P1113S|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													84	352					0	0	1	0	0	T	62259478	C	T	62259478	3	4	22	1	0	0	0	0	1	0	0	0	12854	507	18	2	3514	2	PTPRG	3	62259478	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105665	62259478	135762952	4135	6281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475839.1_Silent_p.F361F|FEZF2_ENST00000486811.1_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													55	473					0	0	1	0	0	A	62356929	G	A	62356929	2	1	22	1	0	0	0	0	0	0	0	1	5859	1049	37	1		1	FEZF2	3	62356929	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97451	62356929	135665501	4136	6282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475839.1_Silent_p.P182P|FEZF2_ENST00000486811.1_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													22	94					0	0	1	0	0	T	62357998	C	T	62357998	2	4	22	1	0	0	0	0	0	0	0	1	5859	523	19	1		1	FEZF2	3	62357998	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1069	62357998	135664432	4137	6283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000283269.9_Missense_Mutation_p.A438T|CADPS_ENST00000357948.3_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													125	573					0	0	1	0	0	T	62631410	C	T	62631410	3	4	22	1	0	0	0	0	1	0	0	0	2588	739	26	2	2922	2	CADPS	3	62631410	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	273412	62631410	135391020	4138	6284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479198.1_3'UTR|SYNPR_ENST00000295894.5_Silent_p.A191A|SYNPR_ENST00000460711.1_Silent_p.A202A|SYNPR_ENST00000465156.1_Silent_p.A127A	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													25	99					0	0	1	0	0	C	63600932	T	C	63600932	2	2	22	1	0	0	0	0	0	0	0	1	15516	1567	55	3		3	SYNPR	3	63600932	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	969522	63600932	134421498	4139	6285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	C3orf49_ENST00000295896.8_Intron|THOC7_ENST00000498422.1_5'UTR	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													94	465					0	0	1	0	0	A	63823667	G	A	63823667	4	1	22	1	0	0	0	0	0	1	0	0	15930	1153	40	1	297	1	THOC7	3	63823667	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222735	63823667	134198763	4140	6286											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000484332.1_Silent_p.P263P|ATXN7_ENST00000487717.1_Silent_p.P408P|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													23	1383					0	0	1	0	0	A	63973863	G	A	63973863	2	1	22	1	0	0	0	0	0	0	0	1	1213	1074	38	1		1	ATXN7	3	63973863	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	150196	63973863	134048567	4141	6287											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000484332.1_Missense_Mutation_p.A486V|ATXN7_ENST00000487717.1_Missense_Mutation_p.A631V|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													131	523					0	0	1	0	0	T	63981390	C	T	63981390	3	4	22	1	0	0	0	0	1	0	0	0	1213	797	28	2	1998	2	ATXN7	3	63981390	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7527	63981390	134041040	4142	6288											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000484332.1_Missense_Mutation_p.S608F|ATXN7_ENST00000487717.1_Missense_Mutation_p.S753F|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													15	438					0	0	1	0	0	T	63981756	C	T	63981756	3	4	22	1	0	0	0	0	1	0	0	0	1213	855	30	2	2364	2	ATXN7	3	63981756	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	366	63981756	134040674	4143	6289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S862S	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													97	441					0	0	1	0	0	A	64084844	G	A	64084844	2	1	22	1	0	0	0	0	0	0	0	1	12539	1078	38	1		1	PRICKLE2	3	64084844	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103088	64084844	133937586	4144	6290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R786W	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													82	323					0	0	1	0	0	A	64085074	G	A	64085074	3	1	22	1	0	0	0	0	1	0	0	0	12539	1086	38	1	350	1	PRICKLE2	3	64085074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230	64085074	133937356	4145	6291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S759S	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													84	316					0	0	1	0	0	A	64085153	G	A	64085153	2	1	22	1	0	0	0	0	0	0	0	1	12539	1078	38	1		1	PRICKLE2	3	64085153	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79	64085153	133937277	4146	6292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R747*	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													82	340					0	0	1	0	0	A	64085191	G	A	64085191	4	1	22	1	0	0	0	0	0	1	0	0	12539	1124	39	1	467	1	PRICKLE2	3	64085191	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38	64085191	133937239	4147	6293											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	535					0	0	1	0	0	A	64138976	G	A	64138976	2	1	22	1	0	0	0	0	0	0	0	1	12539	1049	37	1		1	PRICKLE2	3	64138976	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53785	64138976	133883454	4148	6294											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	735					0.000442599	0.000448314	1	1	0	A	64536704	C	A	64536704	3	1	22	1	0	0	0	0	1	0	0	0	272	768	27	4	1110	4	ADAMTS9	3	64536704	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	397728	64536704	133485726	4149	6295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	523					0	0	1	0	0	A	65342481	G	A	65342481	3	1	22	1	0	0	0	0	1	0	0	0	9240	1086	38	1	431	1	MAGI1	3	65342481	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	805777	65342481	132679949	4150	6296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402939.2_Silent_p.V527V|MAGI1_ENST00000483466.1_Silent_p.V527V|MAGI1_ENST00000497477.2_Silent_p.V527V|MAGI1_ENST00000470990.1_5'UTR	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													32	174					0	0	1	0	0	C	65415781	A	C	65415781	2	2	22	1	0	0	0	0	0	0	0	1	9240	1	1	3		3	MAGI1	3	65415781	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	73300	65415781	132606649	4151	6297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402939.2_Missense_Mutation_p.G156D|MAGI1_ENST00000483466.1_Missense_Mutation_p.G156D|MAGI1_ENST00000497477.2_Missense_Mutation_p.G156D|MAGI1_ENST00000470990.1_5'UTR	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													26	219					0	0	1	0	0	T	65479270	C	T	65479270	3	4	22	1	0	0	0	0	1	0	0	0	9240	739	26	2	4239	2	MAGI1	3	65479270	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63489	65479270	132543160	4152	6298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536651.1_3'UTR|SLC25A26_ENST00000336733.5_Missense_Mutation_p.G51R|SLC25A26_ENST00000484768.1_3'UTR			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													16	71					0	0	1	0	0	A	66313765	G	A	66313765	3	1	22	1	0	0	0	0	1	0	0	0	14544	1000	35	2	235	2	SLC25A26	3	66313765	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	834495	66313765	131708665	4153	6299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'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													21	442					0	0	1	0	0	A	66431186	G	A	66431186	3	1	22	1	0	0	0	0	1	0	0	0	8989	1319	46	2	419	2	LRIG1	3	66431186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117421	66431186	131591244	4154	6300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'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													173	777					0	0	1	0	0	T	66436706	C	T	66436706	2	4	22	1	0	0	0	0	0	0	0	1	8989	912	32	2		2	LRIG1	3	66436706	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5520	66436706	131585724	4155	6301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													233	955					0	0	1	0	0	T	66467583	C	T	66467583	3	4	22	1	0	0	0	0	1	0	0	0	8989	710	25	2	2872	2	LRIG1	3	66467583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30877	66467583	131554847	4156	6302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	476					1.76042e-48	2.17308e-48	1	1	0	T	67054530	G	T	67054530	3	4	22	1	0	0	0	0	1	0	0	0	8043	942	33	2	1149	2	KBTBD8	3	67054530	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	586947	67054530	130967900	4157	6303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	431					0	0	1	0	0	A	67058487	G	A	67058487	3	1	22	1	0	0	0	0	1	0	0	0	8043	1145	40	1	1498	1	KBTBD8	3	67058487	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3957	67058487	130963943	4158	6304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.D669Y|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|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													100	446					1.11883e-47	1.37812e-47	1	1	0	A	69087861	C	A	69087861	3	1	22	1	0	0	0	0	1	0	0	0	16288	826	29	2	1316	2	TMF1	3	69087861	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2029374	69087861	128934569	4159	6305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000489031.1_Silent_p.S473S|LMOD3_ENST00000475434.1_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													33	149					0	0	1	0	0	T	69168087	C	T	69168087	2	4	22	1	0	0	0	0	0	0	0	1	8899	755	27	1		1	LMOD3	3	69168087	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80226	69168087	128854343	4160	6306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000489031.1_Missense_Mutation_p.K120N|LMOD3_ENST00000475434.1_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													14	69					0	0	1	0	0	G	69169146	T	G	69169146	3	3	22	1	0	0	0	0	1	0	0	0	8899	1606	56	3	1330	3	LMOD3	3	69169146	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1059	69169146	128853284	4161	6307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398540.3_Missense_Mutation_p.A933E|FRMD4B_ENST00000478263.1_Missense_Mutation_p.A585E			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													67	273					3.07281e-33	3.63882e-33	1	1	0	T	69230103	G	T	69230103	3	4	22	1	0	0	0	0	1	0	0	0	6087	1087	38	4	318	4	FRMD4B	3	69230103	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60957	69230103	128792327	4162	6308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000314589.5_Missense_Mutation_p.R40H|MITF_ENST00000328528.6_Missense_Mutation_p.R55H|MITF_ENST00000472437.1_Missense_Mutation_p.R4H|MITF_ENST00000394355.2_Missense_Mutation_p.R31H	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"						62	238					0	0	1	0	0	A	69928347	G	A	69928347	3	1	22	1	0	0	0	0	1	0	0	0	9644	1087	38	1	338	1	MITF	3	69928347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	698244	69928347	128094083	4163	6309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000314589.5_Silent_p.I211I|MITF_ENST00000328528.6_Silent_p.I226I|MITF_ENST00000472437.1_Silent_p.I175I|MITF_ENST00000314557.6_Silent_p.I120I|MITF_ENST00000394351.3_Silent_p.I120I|MITF_ENST00000394355.2_Silent_p.I202I|MITF_ENST00000531774.1_Silent_p.I64I	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"						39	158					0	0	1	0	0	T	69990401	C	T	69990401	2	4	22	1	0	0	0	0	0	0	0	1	9644	874	31	1		1	MITF	3	69990401	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62054	69990401	128032029	4164	6310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000314589.5_Missense_Mutation_p.D466G|MITF_ENST00000328528.6_Missense_Mutation_p.D481G|MITF_ENST00000472437.1_Missense_Mutation_p.D430G|MITF_ENST00000314557.6_Missense_Mutation_p.D375G|MITF_ENST00000394351.3_Missense_Mutation_p.D381G|MITF_ENST00000394355.2_Missense_Mutation_p.D457G|MITF_ENST00000531774.1_Missense_Mutation_p.D319G	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"						74	285					0	0	1	0	0	G	70014281	A	G	70014281	3	3	22	1	0	0	0	0	1	0	0	0	9644	275	10	3	1722	3	MITF	3	70014281	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23880	70014281	128008149	4165	6311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000314589.5_Missense_Mutation_p.S482P|MITF_ENST00000328528.6_Missense_Mutation_p.S497P|MITF_ENST00000472437.1_Missense_Mutation_p.S446P|MITF_ENST00000314557.6_Missense_Mutation_p.S391P|MITF_ENST00000394351.3_Missense_Mutation_p.S397P|MITF_ENST00000394355.2_Missense_Mutation_p.S473P|MITF_ENST00000531774.1_Missense_Mutation_p.S335P	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"						84	341					0	0	1	0	0	C	70014328	T	C	70014328	3	2	22	1	0	0	0	0	1	0	0	0	9644	1667	58	3	1769	3	MITF	3	70014328	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47	70014328	128008102	4166	6312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491238.1_Silent_p.Y669Y|FOXP1_ENST00000498215.1_Silent_p.Y667Y|FOXP1_ENST00000493089.1_Silent_p.Y666Y|FOXP1_ENST00000484350.1_Silent_p.Y591Y|FOXP1_ENST00000468577.1_Silent_p.Y603Y|FOXP1_ENST00000475937.1_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								99	511					0	0	1	0	0	A	71008431	G	A	71008431	2	1	22	1	0	0	0	0	0	0	0	1	6060	1140	40	1		1	FOXP1	3	71008431	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	994103	71008431	127013999	4167	6313											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491238.1_Silent_p.N463N|FOXP1_ENST00000498215.1_Silent_p.N461N|FOXP1_ENST00000493089.1_Silent_p.N460N|FOXP1_ENST00000484350.1_Silent_p.N385N|FOXP1_ENST00000468577.1_Silent_p.N461N|FOXP1_ENST00000475937.1_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								70	302					0	0	1	0	0	A	71026839	G	A	71026839	2	1	22	1	0	0	0	0	0	0	0	1	6060	1136	40	1		1	FOXP1	3	71026839	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18408	71026839	126995591	4168	6314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491238.1_Missense_Mutation_p.L199M|FOXP1_ENST00000498215.1_Missense_Mutation_p.L197M|FOXP1_ENST00000493089.1_Missense_Mutation_p.L197M|FOXP1_ENST00000484350.1_Missense_Mutation_p.L121M|FOXP1_ENST00000468577.1_Missense_Mutation_p.L197M|FOXP1_ENST00000475937.1_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								207	720					5.26391e-89	6.75409e-89	1	1	0	T	71096168	G	T	71096168	3	4	22	1	0	0	0	0	1	0	0	0	6060	991	35	2	1492	2	FOXP1	3	71096168	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69329	71096168	126926262	4169	6315											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	549					0	0	1	0	0	T	72890250	C	T	72890250	2	4	22	1	0	0	0	0	0	0	0	1	14347	755	27	1		1	SHQ1	3	72890250	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1794082	72890250	125132180	4170	6316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000295862.9_Intron|PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000394284.3_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													141	699					0	0	1	0	0	A	73111947	G	A	73111947	3	1	22	1	0	0	0	0	1	0	0	0	4910	971	34	2	717	2	EBLN2	3	73111947	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	221697	73111947	124910483	4171	6317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479530.1_Silent_p.S644S|PDZRN3_ENST00000462146.2_Silent_p.S584S|PDZRN3_ENST00000466780.1_Silent_p.S584S|PDZRN3_ENST00000535920.1_Silent_p.S649S	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													72	315					0	0	1	0	0	A	73432936	G	A	73432936	2	1	22	1	0	0	0	0	0	0	0	1	11756	1078	38	1		1	PDZRN3	3	73432936	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	320989	73432936	124589494	4172	6318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479530.1_Missense_Mutation_p.R557W|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R497W|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R497W|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R562W	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													100	386					0	0	1	0	0	A	73433199	G	A	73433199	3	1	22	1	0	0	0	0	1	0	0	0	11756	1086	38	1	686	1	PDZRN3	3	73433199	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263	73433199	124589231	4173	6319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479530.1_Silent_p.A517A|PDZRN3_ENST00000462146.2_Silent_p.A457A|PDZRN3_ENST00000466780.1_Silent_p.A457A|PDZRN3_ENST00000535920.1_Silent_p.A522A	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													7	391					0.000274275	0.000278163	1	1	0	T	73433317	G	T	73433317	2	4	22	1	0	0	0	0	0	0	0	1	11756	987	35	2		2	PDZRN3	3	73433317	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118	73433317	124589113	4174	6320											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479530.1_Missense_Mutation_p.R410H|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R350H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R350H|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R415H	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													52	229					0	0	1	0	0	T	73433639	C	T	73433639	3	4	22	1	0	0	0	0	1	0	0	0	11756	768	27	1	1126	1	PDZRN3	3	73433639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	322	73433639	124588791	4175	6321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479530.1_Silent_p.S258S|PDZRN3_ENST00000462146.2_Silent_p.S198S|PDZRN3_ENST00000466780.1_Silent_p.S198S|PDZRN3_ENST00000535920.1_Silent_p.S263S	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													18	430					0	0	1	0	0	A	73434832	G	A	73434832	2	1	22	1	0	0	0	0	0	0	0	1	11756	1078	38	1		1	PDZRN3	3	73434832	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1193	73434832	124587598	4176	6322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	162					0	0	1	0	0	A	74418379	G	A	74418379	4	1	22	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	4177	6323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	168					3.73808e-20	4.18385e-20	1	1	0	T	74418390	G	T	74418390	3	4	22	1	0	0	0	0	1	0	0	0	3665	971	34	2	2254	2	CNTN3	3	74418390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11	74418390	123604040	4178	6324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	178					0	0	1	0	0	A	74420531	G	A	74420531	2	1	22	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	4179	6325											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	97					0	0	1	0	0	C	75986709	T	C	75986709	3	2	22	1	0	0	0	0	1	0	0	0	13566	1479	51	3		3	ROBO2	3	75986709	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1566178	75986709	122035721	4180	6326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332191.8_Silent_p.A54A|ROBO2_ENST00000487694.3_Silent_p.A70A	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													13	211					0	0	1	0	0	A	77147265	G	A	77147265	2	1	22	1	0	0	0	0	0	0	0	1	13566	1117	39	1		1	ROBO2	3	77147265	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1160556	77147265	120875165	4181	6327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332191.8_Missense_Mutation_p.P922S|ROBO2_ENST00000487694.3_Missense_Mutation_p.P938S	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													130	581					0	0	1	0	0	T	77645811	C	T	77645811	3	4	22	1	0	0	0	0	1	0	0	0	13566	855	30	2	2840	2	ROBO2	3	77645811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	498546	77645811	120376619	4182	6328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332191.8_Silent_p.A1221A|ROBO2_ENST00000487694.3_Silent_p.A1237A	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													61	286					0	0	1	0	0	T	77671486	C	T	77671486	2	4	22	1	0	0	0	0	0	0	0	1	13566	639	23	1		1	ROBO2	3	77671486	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25675	77671486	120350944	4183	6329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000495273.1_Missense_Mutation_p.Q1243H|ROBO1_ENST00000467549.1_Missense_Mutation_p.Q1188H|ROBO1_ENST00000464233.1_Missense_Mutation_p.Q1288H			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													12	86					0.00185496	0.00187281	1	1	0	A	78676482	C	A	78676482	3	1	22	1	0	0	0	0	1	0	0	0	13565	796	28	2	1115	2	ROBO1	3	78676482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1004996	78676482	119345948	4184	6330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000495273.1_Missense_Mutation_p.R1125I|ROBO1_ENST00000467549.1_Missense_Mutation_p.R1070I|ROBO1_ENST00000464233.1_Missense_Mutation_p.R1170I			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													20	113					1.36565e-18	1.51684e-18	1	1	0	A	78680428	C	A	78680428	3	1	22	1	0	0	0	0	1	0	0	0	13565	913	32	2	1474	2	ROBO1	3	78680428	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3946	78680428	119342002	4185	6331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000495273.1_Missense_Mutation_p.I854M|ROBO1_ENST00000467549.1_Missense_Mutation_p.I854M|ROBO1_ENST00000464233.1_Missense_Mutation_p.I890M			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													117	504					0	0	1	0	0	C	78701024	A	C	78701024	3	2	22	1	0	0	0	0	1	0	0	0	13565	10	1	3	2337	3	ROBO1	3	78701024	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20596	78701024	119321406	4186	6332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000495273.1_Missense_Mutation_p.E656K|ROBO1_ENST00000467549.1_Missense_Mutation_p.E656K|ROBO1_ENST00000464233.1_Missense_Mutation_p.E692K			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													14	52					0	0	1	0	0	T	78711157	C	T	78711157	3	4	22	1	0	0	0	0	1	0	0	0	13565	893	31	1	2949	1	ROBO1	3	78711157	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10133	78711157	119311273	4187	6333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000495273.1_Nonsense_Mutation_p.R477*|ROBO1_ENST00000467549.1_Nonsense_Mutation_p.R477*|ROBO1_ENST00000464233.1_Nonsense_Mutation_p.R513*			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													10	89					0	0	1	0	0	A	78719257	G	A	78719257	4	1	22	1	0	0	0	0	0	1	0	0	13565	1124	39	1	3502	1	ROBO1	3	78719257	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8100	78719257	119303173	4188	6334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000149.3	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				15	56					0	0	1	0	0	A	81627222	G	A	81627222	3	1	22	1	0	0	0	0	1	0	0	0	6310	1319	46	2	656	2	GBE1	3	81627222	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2907965	81627222	116395208	4189	6335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000149.3	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				32	151					0	0	1	0	0	T	81699009	C	T	81699009	3	4	22	1	0	0	0	0	1	0	0	0	6310	507	18	2	1667	2	GBE1	3	81699009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71787	81699009	116323421	4190	6336											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000149.3	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				59	267					0	0	1	0	0	C	81810581	T	C	81810581	3	2	22	1	0	0	0	0	1	0	0	0	6310	1588	55	3	2084	3	GBE1	3	81810581	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	111572	81810581	116211849	4191	6337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000149.3	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				52	217					0	0	1	0	0	A	81810601	G	A	81810601	3	1	22	1	0	0	0	0	1	0	0	0	6310	971	34	2	2104	2	GBE1	3	81810601	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	81810601	116211829	4192	6338											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	220					0	0	1	0	0	A	85961642	G	A	85961642	3	1	22	1	0	0	0	0	1	0	0	0	2585	1059	37	1	711	1	CADM2	3	85961642	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4151041	85961642	112060788	4193	6339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	538					0	0	1	0	0	A	86010637	G	A	86010637	4	1	22	1	0	0	0	0	0	1	0	0	2585	1183	41	2	880	2	CADM2	3	86010637	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48995	86010637	112011793	4194	6340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	336					0	0	1	0	0	A	87017995	G	A	87017995	3	1	22	1	0	0	0	0	1	0	0	0	17220	1086	38	1	306	1	VGLL3	3	87017995	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1007358	87017995	111004435	4195	6341											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	430					0	0	1	0	0	T	87027680	C	T	87027680	4	4	22	1	0	0	0	0	0	1	0	0	17220	740	26	2	593	2	VGLL3	3	87027680	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9685	87027680	110994750	4196	6342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000472024.1_3'UTR|CHMP2B_ENST00000471660.1_Missense_Mutation_p.V41F	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													48	211					2.13384e-23	2.42615e-23	1	1	0	T	87294981	G	T	87294981	3	4	22	1	0	0	0	0	1	0	0	0	3377	1029	36	2	254	2	CHMP2B	3	87294981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	267301	87294981	110727449	4197	6343											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	667					0	0	1	0	0	C	88040023	T	C	88040023	3	2	22	1	0	0	0	0	1	0	0	0	7484	1551	54	3	126	3	HTR1F	3	88040023	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	745042	88040023	109982407	4198	6344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	206					0	0	1	0	0	T	88188660	C	T	88188660	3	4	22	1	0	0	0	0	1	0	0	0	18124	565	20	2	202	2	ZNF654	3	88188660	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148637	88188660	109833770	4199	6345											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	506					0	0	1	0	0	A	88205397	G	A	88205397	3	1	22	1	0	0	0	0	1	0	0	0	2242	1145	40	1	612	1	C3orf38	3	88205397	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16737	88205397	109817033	4200	6346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	299					0	0	1	0	0	G	88205716	A	G	88205716	2	3	22	1	0	0	0	0	0	0	0	1	2242	436	16	3		3	C3orf38	3	88205716	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	319	88205716	109816714	4201	6347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	172					0	0	1	0	0	A	93611924	G	A	93611924	2	1	22	1	0	0	0	0	0	0	0	1	12610	1074	38	1		1	PROS1	3	93611924	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5406208	93611924	104410506	4202	6348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	252					5.10508e-28	5.92589e-28	1	1	0	A	93617301	C	A	93617301	3	1	22	1	0	0	0	0	1	0	0	0	12610	912	32	2	1222	2	PROS1	3	93617301	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5377	93617301	104405129	4203	6349											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	561					2.00842e-17	2.21757e-17	1	1	0	T	96706372	G	T	96706372	4	4	22	1	0	0	0	0	0	1	0	0	5199	943	33	2	659	2	EPHA6	3	96706372	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3089071	96706372	101316058	4204	6350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													206	897					0	0	1	0	0	A	96706450	G	A	96706450	3	1	22	1	0	0	0	0	1	0	0	0	5199	1058	37	1	737	1	EPHA6	3	96706450	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78	96706450	101315980	4205	6351											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	360					0	0	1	0	0	C	97596325	A	C	97596325	3	2	22	1	0	0	0	0	1	0	0	0	3936	304	11	3	445	3	CRYBG3	3	97596325	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	889875	97596325	100426105	4206	6352											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000485253.1_3'UTR|CRYBG3_ENST00000389622.2_Nonsense_Mutation_p.W83*	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													58	265					0	0	1	0	0	A	97655719	G	A	97655719	4	1	22	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	4207	6353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													150	685					1.60144e-67	2.02885e-67	1	1	0	A	97711701	C	A	97711701	1	1	22	0	1	0	0	0	0	0	0	0	6213	690	24	2		2	GABRR3	3	97711701	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55982	97711701	100310729	4208	6354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	160					0	0	1	0	0	T	97720488	C	T	97720488	1	4	22	0	1	0	0	0	0	0	0	0	6213	884	31	1		1	GABRR3	3	97720488	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8787	97720488	100301942	4209	6355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	73					1.024e-07	1.06599e-07	1	1	0	T	97736563	G	T	97736563	1	4	22	0	1	0	0	0	0	0	0	0	6213	942	33	2		2	GABRR3	3	97736563	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16075	97736563	100285867	4210	6356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	1070					0	0	1	0	0	T	97806194	C	T	97806194	3	4	22	1	0	0	0	0	1	0	0	0	11188	739	26	2	180	2	OR5AC2	3	97806194	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69631	97806194	100216236	4211	6357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	553					2.84102e-47	3.49602e-47	1	1	0	T	97851957	G	T	97851957	3	4	22	1	0	0	0	0	1	0	0	0	11206	1174	41	2	418	2	OR5H1	3	97851957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45763	97851957	100170473	4212	6358											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	964					0	0	1	0	0	A	97868310	G	A	97868310	2	1	22	1	0	0	0	0	0	0	0	1	11207	1364	48	2		2	OR5H14	3	97868310	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16353	97868310	100154120	4213	6359											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	771					1.87028e-06	1.92935e-06	1	1	0	T	97868645	G	T	97868645	3	4	22	1	0	0	0	0	1	0	0	0	11207	1174	41	2	418	2	OR5H14	3	97868645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	335	97868645	100153785	4214	6360											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													143	1425					5.71386e-39	6.9007e-39	1	1	0	A	97983282	C	A	97983282	3	1	22	1	0	0	0	0	1	0	0	0	11210	913	32	2	156	2	OR5H6	3	97983282	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114637	97983282	100039148	4215	6361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													266	1096					0	0	1	0	0	A	98188581	G	A	98188581	3	1	22	1	0	0	0	0	1	0	0	0	11213	1116	39	1	163	1	OR5K1	3	98188581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205299	98188581	99833849	4216	6362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000513287.1_Missense_Mutation_p.R251H|CLDND1_ENST00000510545.1_Missense_Mutation_p.R251H|CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000394180.2_Missense_Mutation_p.R251H|CLDND1_ENST00000511081.1_Missense_Mutation_p.R156H|CLDND1_ENST00000394185.2_Missense_Mutation_p.R251H|CLDND1_ENST00000437922.1_Missense_Mutation_p.R274H|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000341181.6_Missense_Mutation_p.R251H|CLDND1_ENST00000394181.2_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													39	182					0	0	1	0	0	T	98235513	C	T	98235513	3	4	22	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	4217	6363											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	351					0	0	1	0	0	G	98307569	T	G	98307569	3	3	22	1	0	0	0	0	1	0	0	0	3844	1841	64	3	439	3	CPOX	3	98307569	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	72056	98307569	99714861	4218	6364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													200	879					0	0	1	0	0	A	98518287	G	A	98518287	3	1	22	1	0	0	0	0	1	0	0	0	4304	1203	42	2	74	2	DCBLD2	3	98518287	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	210718	98518287	99504143	4219	6365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													191	880					0	0	1	0	0	A	98518306	G	A	98518306	2	1	22	1	0	0	0	0	0	0	0	1	4304	1136	40	1		1	DCBLD2	3	98518306	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19	98518306	99504124	4220	6366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	130					0	0	1	0	0	C	98541110	A	C	98541110	4	2	22	1	0	0	0	0	0	1	0	0	4304	108	4	3	1579	3	DCBLD2	3	98541110	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22804	98541110	99481320	4221	6367											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	260					7.71302e-15	8.39765e-15	1	1	0	A	98568340	C	A	98568340	3	1	22	1	0	0	0	0	1	0	0	0	4304	855	30	2	1847	2	DCBLD2	3	98568340	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27230	98568340	99454090	4222	6368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	220					0	0	1	0	0	T	99514881	C	T	99514881	2	4	22	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	4223	6369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|FILIP1L_ENST00000383694.2_Missense_Mutation_p.S889I|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000471562.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000354552.3_Intron|CMSS1_ENST00000421999.2_Intron	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													120	497					8.39346e-61	1.05608e-60	1	1	0	A	99567134	C	A	99567134	3	1	22	1	0	0	0	0	1	0	0	0	5928	565	20	2	50	2	FILIP1L	3	99567134	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52253	99567134	98455296	4224	6370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|FILIP1L_ENST00000383694.2_Missense_Mutation_p.A833T|FILIP1L_ENST00000487087.1_Missense_Mutation_p.A649T|FILIP1L_ENST00000471562.1_Missense_Mutation_p.A833T|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.A1073T|CMSS1_ENST00000421999.2_Intron	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													167	758					0	0	1	0	0	T	99567303	C	T	99567303	3	4	22	1	0	0	0	0	1	0	0	0	5928	797	28	2	219	2	FILIP1L	3	99567303	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169	99567303	98455127	4225	6371											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|FILIP1L_ENST00000383694.2_Missense_Mutation_p.T667I|FILIP1L_ENST00000487087.1_Missense_Mutation_p.T483I|FILIP1L_ENST00000471562.1_Missense_Mutation_p.T667I|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.T907I|CMSS1_ENST00000421999.2_Intron	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													202	887					0	0	1	0	0	A	99567800	G	A	99567800	3	1	22	1	0	0	0	0	1	0	0	0	5928	1029	36	2	716	2	FILIP1L	3	99567800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	497	99567800	98454630	4226	6372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	290					2.01871e-26	2.32709e-26	1	1	0	T	100092477	G	T	100092477	3	4	22	1	0	0	0	0	1	0	0	0	16423	1000	35	2	606	2	TOMM70A	3	100092477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	524677	100092477	97929953	4227	6373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	333					0	0	1	0	0	A	100103350	T	A	100103350	2	1	22	1	0	0	0	0	0	0	0	1	16423	1770	62	5		5	TOMM70A	3	100103350	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10873	100103350	97919080	4228	6374											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	305					0	0	1	0	0	G	100170652	A	G	100170652	2	3	22	1	0	0	0	0	0	0	0	1	8904	378	14	3		3	LNP1	3	100170652	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67302	100170652	97851778	4229	6375											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													167	747					7.1496e-87	9.16847e-87	1	1	0	A	100287799	C	A	100287799	3	1	22	1	0	0	0	0	1	0	0	0	16229	797	28	2	736	2	TMEM45A	3	100287799	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117147	100287799	97734631	4230	6376											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	258					0	0	1	0	0	A	100378676	G	A	100378676	2	1	22	1	0	0	0	0	0	0	0	1	6681	933	33	2		2	GPR128	3	100378676	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90877	100378676	97643754	4231	6377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								86	321					0	0	1	0	0	A	100432536	G	A	100432536	3	1	22	1	0	0	0	0	1	0	0	0	15866	1117	39	1	9	1	TFG	3	100432536	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53860	100432536	97589894	4232	6378											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								83	384					1.07466e-44	1.31567e-44	1	1	0	T	100447675	G	T	100447675	4	4	22	1	0	0	0	0	0	1	0	0	15866	1001	35	2	398	2	TFG	3	100447675	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15139	100447675	97574755	4233	6379											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000284322.5_Missense_Mutation_p.L901M|ABI3BP_ENST00000383691.4_Missense_Mutation_p.L855M			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													16	53					1.15088e-07	1.19614e-07	1	1	0	T	100484701	G	T	100484701	3	4	22	1	0	0	0	0	1	0	0	0	91	933	33	2	550	2	ABI3BP	3	100484701	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37026	100484701	97537729	4234	6380											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100493516T>G	ENST00000471714.1	-	60	4546	c.4435_splice	c.e60-1	p.E1479_splice	ABI3BP_ENST00000284322.5_Splice_Site_p.E777_splice|ABI3BP_ENST00000383691.4_Splice_Site_p.E731_splice			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													8	20					0	0	1	0	0	G	100493516	T	G	100493516	5	3	22	1	0	0	0	0	0	0	1	0	91	1855	64	3	928	3	ABI3BP	3	100493516	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8815	100493516	97528914	4235	6381											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000495063.1_Missense_Mutation_p.S565Y|ABI3BP_ENST00000284322.5_Missense_Mutation_p.S516Y|ABI3BP_ENST00000383691.4_5'UTR			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													4	34					0.217242	0.217458	1	1	0	T	100565266	G	T	100565266	3	4	22	1	0	0	0	0	1	0	0	0	91	942	33	2	1752	2	ABI3BP	3	100565266	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71750	100565266	97457164	4236	6382											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	267					0	0	1	0	0	G	100569529	A	G	100569529	2	3	22	1	0	0	0	0	0	0	0	1	91	291	11	3		3	ABI3BP	3	100569529	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4263	100569529	97452901	4237	6383											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	196					0	0	1	0	0	A	100645275	G	A	100645275	3	1	22	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	4238	6384											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													127	596					0	0	1	0	0	C	100976376	T	C	100976376	3	2	22	1	0	0	0	0	1	0	0	0	7773	1812	63	3	2615	3	IMPG2	3	100976376	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	331101	100976376	97046054	4239	6385											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394091.1_Nonsense_Mutation_p.R790*|SENP7_ENST00000358203.3_Nonsense_Mutation_p.R790*|SENP7_ENST00000394085.3_Nonsense_Mutation_p.R142*|SENP7_ENST00000314261.7_Nonsense_Mutation_p.R888*|SENP7_ENST00000348610.3_Nonsense_Mutation_p.R921*	NM_020654.3	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													79	354					0	0	1	0	0	A	101047326	G	A	101047326	4	1	22	1	0	0	0	0	0	1	0	0	14105	1153	40	1	304	1	SENP7	3	101047326	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70950	101047326	96975104	4240	6386											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394091.1_Silent_p.S757S|SENP7_ENST00000358203.3_Silent_p.S757S|SENP7_ENST00000394085.3_Silent_p.S109S|SENP7_ENST00000314261.7_Silent_p.S855S|SENP7_ENST00000348610.3_Silent_p.S888S	NM_020654.3	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													27	101					0	0	1	0	0	T	101047522	C	T	101047522	2	4	22	1	0	0	0	0	0	0	0	1	14105	871	31	1		1	SENP7	3	101047522	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	196	101047522	96974908	4241	6387											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394091.1_Silent_p.K164K|SENP7_ENST00000358203.3_Silent_p.K164K|SENP7_ENST00000314261.7_Silent_p.K262K|SENP7_ENST00000348610.3_Silent_p.K295K	NM_020654.3	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													21	212					0	0	1	0	0	C	101085608	T	C	101085608	2	2	22	1	0	0	0	0	0	0	0	1	14105	1722	60	3		3	SENP7	3	101085608	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38086	101085608	96936822	4242	6388											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394091.1_Missense_Mutation_p.D89A|SENP7_ENST00000358203.3_Missense_Mutation_p.D89A|SENP7_ENST00000314261.7_Missense_Mutation_p.D187A|SENP7_ENST00000348610.3_Missense_Mutation_p.D220A	NM_020654.3	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													53	296					0	0	1	0	0	G	101090890	T	G	101090890	3	3	22	1	0	0	0	0	1	0	0	0	14105	1435	50	3	2466	3	SENP7	3	101090890	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5282	101090890	96931540	4243	6389											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394091.1_Intron|SENP7_ENST00000358203.3_Intron|SENP7_ENST00000314261.7_Intron|SENP7_ENST00000348610.3_Missense_Mutation_p.C92W	NM_020654.3	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													102	435					0	0	1	0	0	C	101136544	A	C	101136544	3	2	22	1	0	0	0	0	1	0	0	0	14105	157	6	3	2857	3	SENP7	3	101136544	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45654	101136544	96885886	4244	6390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	422					1.06222e-33	1.26008e-33	1	1	0	T	101373562	G	T	101373562	2	4	22	1	0	0	0	0	0	0	0	1	17583	958	34	2		2	ZBTB11	3	101373562	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237018	101373562	96648868	4245	6391											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	550					0	0	1	0	0	T	101383834	C	T	101383834	3	4	22	1	0	0	0	0	1	0	0	0	17583	797	28	2	1596	2	ZBTB11	3	101383834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10272	101383834	96638596	4246	6392											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000494050.1_Missense_Mutation_p.S441N|CEP97_ENST00000327230.4_Missense_Mutation_p.S500N			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													19	569					0	0	1	0	0	A	101476949	G	A	101476949	3	1	22	1	0	0	0	0	1	0	0	0	3285	1029	36	2	1533	2	CEP97	3	101476949	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93115	101476949	96545481	4247	6393											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000494050.1_Missense_Mutation_p.F560I|CEP97_ENST00000327230.4_Missense_Mutation_p.F619I			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													81	275					0	0	1	0	0	A	101481366	T	A	101481366	3	1	22	1	0	0	0	0	1	0	0	0	3285	1493	52	5	1893	5	CEP97	3	101481366	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4417	101481366	96541064	4248	6394											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394054.2_Missense_Mutation_p.G9D|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G109D	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													130	503					0	0	1	0	0	A	101570965	G	A	101570965	3	1	22	1	0	0	0	0	1	0	0	0	10430	1203	42	2	332	2	NFKBIZ	3	101570965	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89599	101570965	96451465	4249	6395											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545639.1_Missense_Mutation_p.R80K|CBLB_ENST00000394027.3_Missense_Mutation_p.R80K|CBLB_ENST00000403724.1_Missense_Mutation_p.R58K|CBLB_ENST00000405772.1_Missense_Mutation_p.R58K	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								44	168					0	0	1	0	0	T	105572504	C	T	105572504	3	4	22	1	0	0	0	0	1	0	0	0	2719	913	32	2	2843	2	CBLB	3	105572504	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4001539	105572504	92449926	4250	6396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415149.2_3'UTR|BBX_ENST00000402543.1_3'UTR|BBX_ENST00000325805.8_3'UTR|BBX_ENST00000406780.1_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													102	436					0	0	1	0	0	T	107524307	C	T	107524307	3	4	22	1	0	0	0	0	1	0	0	0	1341	783	27	1		1	BBX	3	107524307	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1951803	107524307	90498123	4251	6397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	183					0	0	1	0	0	A	107885720	G	A	107885720	3	1	22	1	0	0	0	0	1	0	0	0	7606	971	34	2	343	2	IFT57	3	107885720	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	361413	107885720	90136710	4252	6398											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	240					9.78306e-22	1.1038e-21	1	1	0	T	108133184	G	T	108133184	3	4	22	1	0	0	0	0	1	0	0	0	10082	971	34	2	1788	2	MYH15	3	108133184	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	247464	108133184	89889246	4253	6399											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													145	646					0	0	1	0	0	A	108183499	G	A	108183499	3	1	22	1	0	0	0	0	1	0	0	0	10082	1348	47	2	4171	2	MYH15	3	108183499	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50315	108183499	89838931	4254	6400											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	102					0	0	1	0	0	C	108214643	T	C	108214643	3	2	22	1	0	0	0	0	1	0	0	0	10082	1667	58	3	5225	3	MYH15	3	108214643	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31144	108214643	89807787	4255	6401											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	70					0	0	1	0	0	A	108214691	G	A	108214691	3	1	22	1	0	0	0	0	1	0	0	0	10082	1087	38	1	5273	1	MYH15	3	108214691	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	108214691	89807739	4256	6402											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	92					4.87955e-14	5.28594e-14	1	1	0	T	108308205	G	T	108308205	4	4	22	1	0	0	0	0	0	1	0	0	8281	963	34	2	2783	2	KIAA1524	3	108308205	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93514	108308205	89714225	4257	6403											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	349					0	0	1	0	0	A	108335411	G	A	108335411	2	1	22	1	0	0	0	0	0	0	0	1	4891	933	33	2		2	DZIP3	3	108335411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27206	108335411	89687019	4258	6404											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	469					0	0	1	0	0	A	108363438	G	A	108363438	2	1	22	1	0	0	0	0	0	0	0	1	4891	1020	36	2		2	DZIP3	3	108363438	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28027	108363438	89658992	4259	6405											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	412					0	0	1	0	0	C	108366893	A	C	108366893	3	2	22	1	0	0	0	0	1	0	0	0	4891	11	1	3	1954	3	DZIP3	3	108366893	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3455	108366893	89655537	4260	6406											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	108					0	0	1	0	0	A	108381086	G	A	108381086	3	1	22	1	0	0	0	0	1	0	0	0	4891	1174	41	2	2483	2	DZIP3	3	108381086	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14193	108381086	89641344	4261	6407											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	397					0	0	1	0	0	T	108474713	C	T	108474713	3	4	22	1	0	0	0	0	1	0	0	0	13289	507	18	2	91	2	RETNLB	3	108474713	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93627	108474713	89547717	4262	6408											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	331					0	0	1	0	0	C	108474750	T	C	108474750	3	2	22	1	0	0	0	0	1	0	0	0	13289	1435	50	3	128	3	RETNLB	3	108474750	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37	108474750	89547680	4263	6409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	330					2.0095e-06	2.07161e-06	1	1	0	A	108572597	C	A	108572597	3	1	22	1	0	0	0	0	1	0	0	0	16527	739	26	2	456	2	TRAT1	3	108572597	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97847	108572597	89449833	4264	6410											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	404					0	0	1	0	0	T	108634989	C	T	108634989	3	4	22	1	0	0	0	0	1	0	0	0	6931	884	31	1	210	1	GUCA1C	3	108634989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62392	108634989	89387441	4265	6411											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	143					0	0	1	0	0	C	108703566	T	C	108703566	3	2	22	1	0	0	0	0	1	0	0	0	9750	1841	64	3	657	3	MORC1	3	108703566	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	68577	108703566	89318864	4266	6412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	194					4.02929e-09	4.23443e-09	1	1	0	A	108778706	C	A	108778706	3	1	22	1	0	0	0	0	1	0	0	0	9750	912	32	2	2044	2	MORC1	3	108778706	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75140	108778706	89243724	4267	6413											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	190					0	0	1	0	0	A	108818260	G	A	108818260	3	1	22	1	0	0	0	0	1	0	0	0	9750	1145	40	1	2678	1	MORC1	3	108818260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39554	108818260	89204170	4268	6414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	263					3.8688e-20	4.32843e-20	1	1	0	A	109026937	C	A	109026937	3	1	22	1	0	0	0	0	1	0	0	0	4760	680	24	2	308	2	DPPA2	3	109026937	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208677	109026937	88995493	4269	6415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481953.1_Silent_p.N29N|PHLDB2_ENST00000478922.1_Silent_p.N29N|PHLDB2_ENST00000477695.1_Silent_p.N29N|PHLDB2_ENST00000393925.3_Silent_p.N29N|PHLDB2_ENST00000393923.3_Silent_p.N56N|PHLDB2_ENST00000412622.1_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													128	700					0	0	1	0	0	T	111603011	C	T	111603011	2	4	22	1	0	0	0	0	0	0	0	1	11900	535	19	1		1	PHLDB2	3	111603011	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2576074	111603011	86419419	4270	6416											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481953.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S39N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S66N|PHLDB2_ENST00000412622.1_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													126	660					0	0	1	0	0	A	111603040	G	A	111603040	3	1	22	1	0	0	0	0	1	0	0	0	11900	971	34	2	203	2	PHLDB2	3	111603040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29	111603040	86419390	4271	6417											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481953.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000478922.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000477695.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000393925.3_Missense_Mutation_p.T77I|PHLDB2_ENST00000393923.3_Missense_Mutation_p.T104I|PHLDB2_ENST00000412622.1_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													174	884					0	0	1	0	0	T	111603154	C	T	111603154	3	4	22	1	0	0	0	0	1	0	0	0	11900	507	18	2	317	2	PHLDB2	3	111603154	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114	111603154	86419276	4272	6418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481953.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S212N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S239N|PHLDB2_ENST00000412622.1_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													80	283					0	0	1	0	0	A	111603559	G	A	111603559	3	1	22	1	0	0	0	0	1	0	0	0	11900	971	34	2	722	2	PHLDB2	3	111603559	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	405	111603559	86418871	4273	6419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481953.1_Intron|PHLDB2_ENST00000477695.1_Intron|PHLDB2_ENST00000393925.3_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													32	121					1.55811e-20	1.74671e-20	1	1	0	T	111604339	G	T	111604339	3	4	22	1	0	0	0	0	1	0	0	0	11900	1015	35	2		2	PHLDB2	3	111604339	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	780	111604339	86418091	4274	6420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481953.1_Silent_p.E645E|PHLDB2_ENST00000393925.3_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													62	335					0	0	1	0	0	A	111639200	G	A	111639200	2	1	22	1	0	0	0	0	0	0	0	1	11900	933	33	2		2	PHLDB2	3	111639200	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34861	111639200	86383230	4275	6421											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481953.1_Silent_p.L671L|PHLDB2_ENST00000393925.3_Silent_p.L714L|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													33	444					0	0	1	0	0	T	111658331	C	T	111658331	2	4	22	1	0	0	0	0	0	0	0	1	11900	680	24	2		2	PHLDB2	3	111658331	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19131	111658331	86364099	4276	6422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481953.1_Missense_Mutation_p.L682M|PHLDB2_ENST00000393925.3_Missense_Mutation_p.L725M|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													84	377					5.01443e-46	6.15577e-46	1	1	0	A	111658364	C	A	111658364	3	1	22	1	0	0	0	0	1	0	0	0	11900	680	24	2	2280	2	PHLDB2	3	111658364	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	111658364	86364066	4277	6423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000495180.1_Missense_Mutation_p.M717T|PHLDB2_ENST00000481953.1_Missense_Mutation_p.M1183T|PHLDB2_ENST00000412622.1_Missense_Mutation_p.M1183T|PHLDB2_ENST00000393923.3_Missense_Mutation_p.M1210T|PHLDB2_ENST00000393925.3_Missense_Mutation_p.M1226T	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													10	461					0	0	1	0	0	C	111693325	T	C	111693325	3	2	22	1	0	0	0	0	1	0	0	0	11900	1464	51	3	3828	3	PHLDB2	3	111693325	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34961	111693325	86329105	4278	6424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													160	675					1.00085e-62	1.26187e-62	1	1	0	T	111782371	G	T	111782371	5	4	22	1	0	0	0	0	0	0	1	0	16312	985	34	2	1103	2	TMPRSS7	3	111782371	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89046	111782371	86240059	4279	6425											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	351					0	0	1	0	0	T	112299496	C	T	112299496	3	4	22	1	0	0	0	0	1	0	0	0	14629	536	19	1	550	1	SLC35A5	3	112299496	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	517125	112299496	85722934	4280	6426											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	562					0	0	1	0	0	T	112358493	C	T	112358493	3	4	22	1	0	0	0	0	1	0	0	0	2874	768	27	1	2620	1	CCDC80	3	112358493	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58997	112358493	85663937	4281	6427											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000383675.2_Missense_Mutation_p.E239A|C3orf17_ENST00000393857.2_Missense_Mutation_p.E173A	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													40	184					0	0	1	0	0	G	112729539	T	G	112729539	3	3	22	1	0	0	0	0	1	0	0	0	2224	1783	62	3	789	3	C3orf17	3	112729539	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	371046	112729539	85292891	4282	6428											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000383675.2_Missense_Mutation_p.N72H|C3orf17_ENST00000393857.2_Intron	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													83	326					0	0	1	0	0	G	112736342	T	G	112736342	3	3	22	1	0	0	0	0	1	0	0	0	2224	1812	63	3	1521	3	C3orf17	3	112736342	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6803	112736342	85286088	4283	6429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000383675.2_Silent_p.S52S|C3orf17_ENST00000393857.2_Intron	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													107	545					0	0	1	0	0	T	112736400	C	T	112736400	2	4	22	1	0	0	0	0	0	0	0	1	2224	755	27	1		1	C3orf17	3	112736400	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58	112736400	85286030	4284	6430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	287					0	0	1	0	0	A	112993336	G	A	112993336	3	1	22	1	0	0	0	0	1	0	0	0	1480	942	33	2	1375	2	BOC	3	112993336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	256936	112993336	85029094	4285	6431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	240					1.59361e-14	1.73214e-14	1	1	0	T	112998114	G	T	112998114	3	4	22	1	0	0	0	0	1	0	0	0	1480	1000	35	2	1870	2	BOC	3	112998114	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4778	112998114	85024316	4286	6432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	172					0	0	1	0	0	T	113115561	C	T	113115561	3	4	22	1	0	0	0	0	1	0	0	0	17364	855	30	2	4084	2	WDR52	3	113115561	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117447	113115561	84906869	4287	6433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	172					0	0	1	0	0	G	113120491	A	G	113120491	2	3	22	1	0	0	0	0	0	0	0	1	17364	214	8	3		3	WDR52	3	113120491	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4930	113120491	84901939	4288	6434											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.P1975L	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													8	126					0	0	1	0	0	A	113374605	G	A	113374605	3	1	22	1	0	0	0	0	1	0	0	0	8310	1232	43	2	817	2	KIAA2018	3	113374605	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	254114	113374605	84647825	4289	6435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.A1726D	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													119	523					2.5327e-61	3.18828e-61	1	1	0	T	113375352	G	T	113375352	3	4	22	1	0	0	0	0	1	0	0	0	8310	1203	42	2	1564	2	KIAA2018	3	113375352	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	747	113375352	84647078	4290	6436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	583					0	0	1	0	0	A	113563463	T	A	113563463	3	1	22	1	0	0	0	0	1	0	0	0	6790	1490	52	5	147	5	GRAMD1C	3	113563463	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	188111	113563463	84458967	4291	6437											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.D90N|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													54	284					0	0	1	0	0	A	113623099	G	A	113623099	3	1	22	1	0	0	0	0	1	0	0	0	6790	1058	37	1	799	1	GRAMD1C	3	113623099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59636	113623099	84399331	4292	6438											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													167	692					0	0	1	0	0	A	113697720	G	A	113697720	2	1	22	1	0	0	0	0	0	0	0	1	8271	1164	41	2		2	KIAA1407	3	113697720	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74621	113697720	84324710	4293	6439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	786					6.8682e-38	8.26113e-38	1	1	0	A	113720481	C	A	113720481	3	1	22	1	0	0	0	0	1	0	0	0	8271	796	28	2	706	2	KIAA1407	3	113720481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22761	113720481	84301949	4294	6440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000460779.1_Silent_p.R220R|DRD3_ENST00000467632.1_Silent_p.R220R|DRD3_ENST00000295881.7_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													162	674					2.77756e-48	3.42715e-48	1	1	0	A	113858410	C	A	113858410	2	1	22	1	0	0	0	0	0	0	0	1	4784	842	30	2		2	DRD3	3	113858410	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137929	113858410	84164020	4295	6441											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	386					0	0	1	0	0	A	113955909	G	A	113955909	3	1	22	1	0	0	0	0	1	0	0	0	18217	1145	40	1	812	1	ZNF80	3	113955909	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97499	113955909	84066521	4296	6442											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000486257.1_Missense_Mutation_p.A148T|TIGIT_ENST00000383671.3_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													39	214					0	0	1	0	0	A	114018494	G	A	114018494	3	1	22	1	0	0	0	0	1	0	0	0	15962	1087	38	1	452	1	TIGIT	3	114018494	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62585	114018494	84003936	4297	6443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481632.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000474710.1_Missense_Mutation_p.A682T|ZBTB20_ENST00000471418.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000393785.2_Missense_Mutation_p.A609T|ZBTB20_ENST00000357258.3_Missense_Mutation_p.A609T|ZBTB20_ENST00000464560.1_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													85	413					0	0	1	0	0	T	114058034	C	T	114058034	3	4	22	1	0	0	0	0	1	0	0	0	17588	739	26	2	185	2	ZBTB20	3	114058034	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39540	114058034	83964396	4298	6444											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481632.1_Silent_p.P336P|ZBTB20_ENST00000474710.1_Silent_p.P409P|ZBTB20_ENST00000471418.1_Silent_p.P336P|ZBTB20_ENST00000393785.2_Silent_p.P336P|ZBTB20_ENST00000357258.3_Silent_p.P336P|ZBTB20_ENST00000464560.1_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													88	413					0	0	1	0	0	A	114069698	G	A	114069698	2	1	22	1	0	0	0	0	0	0	0	1	17588	1103	39	1		1	ZBTB20	3	114069698	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11664	114069698	83952732	4299	6445											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481632.1_Silent_p.A290A|ZBTB20_ENST00000474710.1_Silent_p.A363A|ZBTB20_ENST00000471418.1_Silent_p.A290A|ZBTB20_ENST00000393785.2_Silent_p.A290A|ZBTB20_ENST00000357258.3_Silent_p.A290A|ZBTB20_ENST00000464560.1_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													82	278					0	0	1	0	0	A	114069836	G	A	114069836	2	1	22	1	0	0	0	0	0	0	0	1	17588	1103	39	1		1	ZBTB20	3	114069836	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138	114069836	83952594	4300	6446											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481632.1_Silent_p.N123N|ZBTB20_ENST00000474710.1_Silent_p.N196N|ZBTB20_ENST00000471418.1_Silent_p.N123N|ZBTB20_ENST00000393785.2_Silent_p.N123N|ZBTB20_ENST00000357258.3_Silent_p.N123N|ZBTB20_ENST00000464560.1_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													56	328					0	0	1	0	0	A	114070337	G	A	114070337	2	1	22	1	0	0	0	0	0	0	0	1	17588	1136	40	1		1	ZBTB20	3	114070337	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	501	114070337	83952093	4301	6447											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481632.1_Silent_p.A51A|ZBTB20_ENST00000474710.1_Silent_p.A124A|ZBTB20_ENST00000471418.1_Silent_p.A51A|ZBTB20_ENST00000393785.2_Silent_p.A51A|ZBTB20_ENST00000357258.3_Silent_p.A51A|ZBTB20_ENST00000464560.1_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													45	220					0	0	1	0	0	A	114070553	G	A	114070553	2	1	22	1	0	0	0	0	0	0	0	1	17588	1103	39	1		1	ZBTB20	3	114070553	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	216	114070553	83951877	4302	6448											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481632.1_Missense_Mutation_p.R4H|ZBTB20_ENST00000474710.1_Missense_Mutation_p.R77H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R4H|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R4H|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R4H|ZBTB20_ENST00000464560.1_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													38	314					0	0	1	0	0	T	114070695	C	T	114070695	3	4	22	1	0	0	0	0	1	0	0	0	17588	768	27	1	2003	1	ZBTB20	3	114070695	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142	114070695	83951735	4303	6449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	296					0	0	1	0	0	A	115395064	G	A	115395064	3	1	22	1	0	0	0	0	1	0	0	0	6275	1175	41	2	383	2	GAP43	3	115395064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1324369	115395064	82627366	4304	6450											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	200					0	0	1	0	0	A	115395285	G	A	115395285	2	1	22	1	0	0	0	0	0	0	0	1	6275	1132	40	1		1	GAP43	3	115395285	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	221	115395285	82627145	4305	6451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:115805293C>T	ENST00000490035.1	-	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	89	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													48	203					0	0	1	0	0	T	115805293	C	T	115805293	3	4	22	1	0	0	0	0	1	0	0	0	9093	768	27	1	774	1	LSAMP	3	115805293	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	410008	115805293	82217137	4306	6452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	220					0	0	1	0	0	T	119084170	C	T	119084170	2	4	22	1	0	0	0	0	0	0	0	1	877	547	19	1		1	ARHGAP31	3	119084170	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3278877	119084170	78938260	4307	6453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	234					0	0	1	0	0	C	119084190	A	C	119084190	3	2	22	1	0	0	0	0	1	0	0	0	877	246	9	3	134	3	ARHGAP31	3	119084190	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20	119084190	78938240	4308	6454											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	142					0	0	1	0	0	A	119128481	G	A	119128481	3	1	22	1	0	0	0	0	1	0	0	0	877	971	34	2	1826	2	ARHGAP31	3	119128481	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44291	119128481	78893949	4309	6455											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	407					0	0	1	0	0	A	119132980	G	A	119132980	3	1	22	1	0	0	0	0	1	0	0	0	877	971	34	2	2250	2	ARHGAP31	3	119132980	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4499	119132980	78889450	4310	6456											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	800					3.24273e-39	3.91873e-39	1	1	0	T	119133927	G	T	119133927	3	4	22	1	0	0	0	0	1	0	0	0	877	1232	43	2	3197	2	ARHGAP31	3	119133927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	947	119133927	78888503	4311	6457											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	248					0	0	1	0	0	A	119156786	G	A	119156786	3	1	22	1	0	0	0	0	1	0	0	0	16221	1059	37	1	742	1	TMEM39A	3	119156786	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22859	119156786	78865644	4312	6458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	153					1.5739e-10	1.67034e-10	1	1	0	A	119171296	C	A	119171296	4	1	22	1	0	0	0	0	0	1	0	0	16221	922	32	2	1072	2	TMEM39A	3	119171296	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14510	119171296	78851134	4313	6459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000383669.3_Missense_Mutation_p.D124Y|CD80_ENST00000478182.1_Missense_Mutation_p.D124Y|CD80_ENST00000383668.3_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													86	390					4.08182e-41	4.95533e-41	1	1	0	A	119263445	C	A	119263445	3	1	22	1	0	0	0	0	1	0	0	0	3060	913	32	2	512	2	CD80	3	119263445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92149	119263445	78758985	4314	6460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264231.3_Silent_p.G40G|POPDC2_ENST00000538678.1_Silent_p.G40G|POPDC2_ENST00000468801.1_Silent_p.G40G|POPDC2_ENST00000474523.1_Intron			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													45	217					1.76056e-25	2.02043e-25	1	1	0	T	119379151	G	T	119379151	2	4	22	1	0	0	0	0	0	0	0	1	12303	958	34	2		2	POPDC2	3	119379151	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115706	119379151	78643279	4315	6461											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000497116.1_Silent_p.I38I|COX17_ENST00000484810.1_Silent_p.I73I	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													44	237					0	0	1	0	0	A	119394074	G	A	119394074	2	1	22	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	4316	6462											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000337940.4_Missense_Mutation_p.A318T|NR1I2_ENST00000466380.1_Missense_Mutation_p.A242T	NM_003889.3	NP_003880.3	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													54	244					0	0	1	0	0	A	119533866	G	A	119533866	3	1	22	1	0	0	0	0	1	0	0	0	10668	1203	42	2	974	2	NR1I2	3	119533866	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139792	119533866	78488564	4317	6463											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000337940.4_Silent_p.H457H|NR1I2_ENST00000466380.1_Silent_p.H381H	NM_003889.3	NP_003880.3	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													58	397					0	0	1	0	0	T	119536008	C	T	119536008	2	4	22	1	0	0	0	0	0	0	0	1	10668	506	18	2		2	NR1I2	3	119536008	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2142	119536008	78486422	4318	6464											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	425					0	0	1	0	0	T	119812208	C	T	119812208	3	4	22	1	0	0	0	0	1	0	0	0	6865	797	28	2	1275	2	GSK3B	3	119812208	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	276200	119812208	78210222	4319	6465											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	112					0	0	1	0	0	A	120315332	G	A	120315332	2	1	22	1	0	0	0	0	0	0	0	1	10330	962	34	2		2	NDUFB4	3	120315332	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	503124	120315332	77707098	4320	6466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	342					0	0	1	0	0	T	120360511	C	T	120360511	4	4	22	1	0	0	0	0	0	1	0	0	7125	740	26	2	549	2	HGD	3	120360511	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45179	120360511	77661919	4321	6467											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	306					0	0	1	0	0	G	120365164	A	G	120365164	3	3	22	1	0	0	0	0	1	0	0	0	7125	333	12	3	762	3	HGD	3	120365164	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4653	120365164	77657266	4322	6468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000483733.1_Missense_Mutation_p.V88I|RABL3_ENST00000491398.1_5'UTR	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													22	267					0	0	1	0	0	T	120428633	C	T	120428633	3	4	22	1	0	0	0	0	1	0	0	0	13024	536	19	1	472	1	RABL3	3	120428633	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63469	120428633	77593797	4323	6469											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	281					0	0	1	0	0	A	120469705	G	A	120469705	2	1	22	1	0	0	0	0	0	0	0	1	6897	1335	47	2		2	GTF2E1	3	120469705	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41072	120469705	77552725	4324	6470											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	254					1.07234e-20	1.20343e-20	1	1	0	T	120499984	G	T	120499984	3	4	22	1	0	0	0	0	1	0	0	0	6897	933	33	2	1001	2	GTF2E1	3	120499984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30279	120499984	77522446	4325	6471											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120941850C>T	ENST00000273666.6	+	11	1228	c.956_splice	c.e11-1	p.S319_splice	STXBP5L_ENST00000471454.1_Splice_Site_p.S319_splice|STXBP5L_ENST00000472879.1_Splice_Site_p.S319_splice|STXBP5L_ENST00000492541.1_Splice_Site_p.S319_splice|STXBP5L_ENST00000497029.1_Splice_Site_p.S319_splice	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													58	403					0	0	1	0	0	T	120941850	C	T	120941850	5	4	22	1	0	0	0	0	0	0	1	0	15413	782	27	1	995	1	STXBP5L	3	120941850	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	441866	120941850	77080580	4326	6472											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000471454.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000497029.1_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													103	416					0	0	1	0	0	A	120976165	G	A	120976165	3	1	22	1	0	0	0	0	1	0	0	0	15413	1029	36	2	1879	2	STXBP5L	3	120976165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34315	120976165	77046265	4327	6473											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000471454.1_Missense_Mutation_p.T864A|STXBP5L_ENST00000472879.1_Missense_Mutation_p.T864A|STXBP5L_ENST00000492541.1_Missense_Mutation_p.T888A|STXBP5L_ENST00000497029.1_Missense_Mutation_p.T862A	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													34	221					0	0	1	0	0	G	121126092	A	G	121126092	3	3	22	1	0	0	0	0	1	0	0	0	15413	391	14	3	2752	3	STXBP5L	3	121126092	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	149927	121126092	76896338	4328	6474											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000471454.1_Missense_Mutation_p.A959V|STXBP5L_ENST00000472879.1_Missense_Mutation_p.A959V|STXBP5L_ENST00000492541.1_Missense_Mutation_p.A983V|STXBP5L_ENST00000497029.1_Missense_Mutation_p.A957V	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													17	457					0	0	1	0	0	T	121126378	C	T	121126378	3	4	22	1	0	0	0	0	1	0	0	0	15413	710	25	2	3038	2	STXBP5L	3	121126378	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286	121126378	76896052	4329	6475											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	344					0	0	1	0	0	T	121132069	C	T	121132069	4	4	22	1	0	0	0	0	0	1	0	0	15413	528	19	1	3179	1	STXBP5L	3	121132069	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5691	121132069	76890361	4330	6476											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	319					0	0	1	0	0	C	121137938	A	C	121137938	3	2	22	1	0	0	0	0	1	0	0	0	15413	98	4	3	3661	3	STXBP5L	3	121137938	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5869	121137938	76884492	4331	6477											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					49	257					0	0	1	0	0	T	121256050	C	T	121256050	3	4	22	1	0	0	0	0	1	0	0	0	12256	507	18	2	7239	2	POLQ	3	121256050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118112	121256050	76766380	4332	6478											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					66	348					0	0	1	0	0	T	121258312	C	T	121258312	3	4	22	1	0	0	0	0	1	0	0	0	12256	768	27	1	7281	1	POLQ	3	121258312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2262	121258312	76764118	4333	6479											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	206					0	0	1	0	0	T	121341856	C	T	121341856	3	4	22	1	0	0	0	0	1	0	0	0	5782	623	22	2	1586	2	FBXO40	3	121341856	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83544	121341856	76680574	4334	6480											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	223					0	0	1	0	0	G	121341875	A	G	121341875	2	3	22	1	0	0	0	0	0	0	0	1	5782	69	3	3		3	FBXO40	3	121341875	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19	121341875	76680555	4335	6481											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	329					4.03997e-35	4.81766e-35	1	1	0	T	121386347	G	T	121386347	3	4	22	1	0	0	0	0	1	0	0	0	6604	942	33	2	276	2	GOLGB1	3	121386347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44472	121386347	76636083	4336	6482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	500					0	0	1	0	0	T	121400548	C	T	121400548	2	4	22	1	0	0	0	0	0	0	0	1	6604	796	28	2		2	GOLGB1	3	121400548	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14201	121400548	76621882	4337	6483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	328					0	0	1	0	0	G	121410400	T	G	121410400	3	3	22	1	0	0	0	0	1	0	0	0	6604	1435	50	3	2019	3	GOLGB1	3	121410400	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9852	121410400	76612030	4338	6484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	513					2.98393e-07	3.0958e-07	1	1	0	T	121414124	G	T	121414124	3	4	22	1	0	0	0	0	1	0	0	0	6604	942	33	2	4588	2	GOLGB1	3	121414124	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3724	121414124	76608306	4339	6485											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													187	936					0	0	1	0	0	T	121414270	C	T	121414270	2	4	22	1	0	0	0	0	0	0	0	1	6604	912	32	2		2	GOLGB1	3	121414270	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146	121414270	76608160	4340	6486											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	367					0	0	1	0	0	A	121417334	G	A	121417334	3	1	22	1	0	0	0	0	1	0	0	0	6604	971	34	2	7798	2	GOLGB1	3	121417334	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3064	121417334	76605096	4341	6487											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													172	822					0	0	1	0	0	A	121489343	G	A	121489343	3	1	22	1	0	0	0	0	1	0	0	0	7847	1203	42	2	154	2	IQCB1	3	121489343	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72009	121489343	76533087	4342	6488											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													148	666					3.45299e-71	4.38936e-71	1	1	0	A	121509063	C	A	121509063	5	1	22	1	0	0	0	0	0	0	1	0	7847	927	32	2	830	2	IQCB1	3	121509063	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19720	121509063	76513367	4343	6489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121810499T>C	ENST00000330540.2	+	2	180		c.e2+2		CD86_ENST00000483949.1_3'UTR|CD86_ENST00000469710.1_Intron|CD86_ENST00000493101.1_Splice_Site|CD86_ENST00000264468.5_Splice_Site|CD86_ENST00000393627.2_Splice_Site	NM_175862.4	NP_787058.4	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													258	1133					0	0	1	0	0	C	121810499	T	C	121810499	5	2	22	1	0	0	0	0	0	0	1	0	3065	1652	57	3	72	3	CD86	3	121810499	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	301436	121810499	76211931	4344	6490											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001171536.1	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													164	718					0	0	1	0	0	T	121980530	C	T	121980530	2	4	22	1	0	0	0	0	0	0	0	1	2700	535	19	1		1	CASR	3	121980530	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170031	121980530	76041900	4345	6491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001171536.1	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													192	730					0	0	1	0	0	A	121980656	G	A	121980656	2	1	22	1	0	0	0	0	0	0	0	1	2700	1277	45	2		2	CASR	3	121980656	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126	121980656	76041774	4346	6492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001171536.1	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													56	285					0	0	1	0	0	A	122002644	G	A	122002644	3	1	22	1	0	0	0	0	1	0	0	0	2700	1087	38	1	1895	1	CASR	3	122002644	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21988	122002644	76019786	4347	6493											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001171536.1	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													66	289					0	0	1	0	0	T	122002933	C	T	122002933	3	4	22	1	0	0	0	0	1	0	0	0	2700	623	22	2	2184	2	CASR	3	122002933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	289	122002933	76019497	4348	6494											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001171536.1	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													12	239					0	0	1	0	0	T	122003168	C	T	122003168	2	4	22	1	0	0	0	0	0	0	0	1	2700	912	32	2		2	CASR	3	122003168	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	235	122003168	76019262	4349	6495											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000469967.1_Missense_Mutation_p.R100Q|FAM162A_ENST00000232125.5_Missense_Mutation_p.R90Q	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													26	256					0	0	1	0	0	A	122126163	G	A	122126163	3	1	22	1	0	0	0	0	1	0	0	0	5504	1058	37	1	313	1	FAM162A	3	122126163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122995	122126163	75896267	4350	6496											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													185	923					1.73262e-47	2.13312e-47	1	1	0	T	122134224	G	T	122134224	3	4	22	1	0	0	0	0	1	0	0	0	17369	1000	35	2	844	2	WDR5B	3	122134224	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8061	122134224	75888206	4351	6497											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000477522.2_Missense_Mutation_p.L79M|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.L79M|PARP9_ENST00000360356.2_Missense_Mutation_p.L114M	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													49	178					4.18559e-23	4.75231e-23	1	1	0	T	122274783	G	T	122274783	3	4	22	1	0	0	0	0	1	0	0	0	11513	962	34	2	2309	2	PARP9	3	122274783	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140559	122274783	75747647	4352	6498											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	530					0	0	1	0	0	T	122288313	C	T	122288313	2	4	22	1	0	0	0	0	0	0	0	1	4822	697	25	2		2	DTX3L	3	122288313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13530	122288313	75734117	4353	6499											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000464300.2_Missense_Mutation_p.F558V|PARP15_ENST00000493645.1_Missense_Mutation_p.F255V|PARP15_ENST00000310366.4_Missense_Mutation_p.F324V			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													59	230					0	0	1	0	0	G	122353966	T	G	122353966	3	3	22	1	0	0	0	0	1	0	0	0	11506	1609	56	3	1783	3	PARP15	3	122353966	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	65653	122353966	75668464	4354	6500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	51					0	0	1	0	0	A	122405935	G	A	122405935	2	1	22	1	0	0	0	0	0	0	0	1	11505	933	33	2		2	PARP14	3	122405935	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51969	122405935	75616495	4355	6501											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	136					0	0	1	0	0	C	122411328	A	C	122411328	3	2	22	1	0	0	0	0	1	0	0	0	11505	275	10	3	550	3	PARP14	3	122411328	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5393	122411328	75611102	4356	6502											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	97					0	0	1	0	0	A	122420074	G	A	122420074	2	1	22	1	0	0	0	0	0	0	0	1	11505	1045	37	1		1	PARP14	3	122420074	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8746	122420074	75602356	4357	6503											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	434					0	0	1	0	0	A	122422767	G	A	122422767	3	1	22	1	0	0	0	0	1	0	0	0	11505	1087	38	1	3286	1	PARP14	3	122422767	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2693	122422767	75599663	4358	6504											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	147					0	0	1	0	0	T	122446723	C	T	122446723	3	4	22	1	0	0	0	0	1	0	0	0	11505	739	26	2	5068	2	PARP14	3	122446723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23956	122446723	75575707	4359	6505											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													148	703					7.55372e-74	9.62008e-74	1	1	0	T	122459627	G	T	122459627	2	4	22	1	0	0	0	0	0	0	0	1	7469	1164	41	2		2	HSPBAP1	3	122459627	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12904	122459627	75562803	4360	6506											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	577					0	0	1	0	0	C	122459673	A	C	122459673	3	2	22	1	0	0	0	0	1	0	0	0	7469	43	2	3	484	3	HSPBAP1	3	122459673	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	46	122459673	75562757	4361	6507											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	258					0	0	1	0	0	C	122474183	A	C	122474183	3	2	22	1	0	0	0	0	1	0	0	0	7469	43	2	3	817	3	HSPBAP1	3	122474183	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14510	122474183	75548247	4362	6508											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	403					0	0	1	0	0	C	122629748	T	C	122629748	3	2	22	1	0	0	0	0	1	0	0	0	14092	1464	51	3	227	3	SEMA5B	3	122629748	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	155565	122629748	75392682	4363	6509											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451055.2_Silent_p.E938E|SEMA5B_ENST00000357599.3_Silent_p.E884E			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													88	348					0	0	1	0	0	T	122631763	C	T	122631763	2	4	22	1	0	0	0	0	0	0	0	1	14092	796	28	2		2	SEMA5B	3	122631763	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2015	122631763	75390667	4364	6510											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451055.2_Missense_Mutation_p.R762Q|SEMA5B_ENST00000357599.3_Missense_Mutation_p.R708Q			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													114	440					0	0	1	0	0	T	122632714	C	T	122632714	3	4	22	1	0	0	0	0	1	0	0	0	14092	652	23	1	1368	1	SEMA5B	3	122632714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	951	122632714	75389716	4365	6511											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451055.2_Missense_Mutation_p.R689Q|SEMA5B_ENST00000357599.3_Missense_Mutation_p.R635Q			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													53	216					0	0	1	0	0	T	122634371	C	T	122634371	3	4	22	1	0	0	0	0	1	0	0	0	14092	884	31	1	1591	1	SEMA5B	3	122634371	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1657	122634371	75388059	4366	6512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451055.2_Silent_p.C442C|SEMA5B_ENST00000357599.3_Silent_p.C388C			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													94	461					0	0	1	0	0	A	122642572	G	A	122642572	2	1	22	1	0	0	0	0	0	0	0	1	14092	1079	38	1		1	SEMA5B	3	122642572	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8201	122642572	75379858	4367	6513											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451055.2_Silent_p.P284P|SEMA5B_ENST00000357599.3_Silent_p.P230P			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													64	336					5.62145e-24	6.41091e-24	1	1	0	T	122646797	G	T	122646797	2	4	22	1	0	0	0	0	0	0	0	1	14092	987	35	2		2	SEMA5B	3	122646797	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4225	122646797	75375633	4368	6514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	123					0	0	1	0	0	A	122978426	G	A	122978426	3	1	22	1	0	0	0	0	1	0	0	0	14042	1319	46	2	731	2	SEC22A	3	122978426	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	331629	122978426	75044004	4369	6515											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	429					0	0	1	0	0	A	123008674	G	A	123008674	3	1	22	1	0	0	0	0	1	0	0	0	296	1203	42	2	342	2	ADCY5	3	123008674	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30248	123008674	75013756	4370	6516											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	373					0	0	1	0	0	A	123044174	G	A	123044174	3	1	22	1	0	0	0	0	1	0	0	0	296	1086	38	1	1758	1	ADCY5	3	123044174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35500	123044174	74978256	4371	6517											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	79	353					0	0	1	0	0	A	123047580	G	A	123047580	2	1	22	1	0	0	0	0	0	0	0	1	296	1079	38	1		1	ADCY5	3	123047580	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3406	123047580	74974850	4372	6518											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	209					0	0	1	0	0	A	123049816	G	A	123049816	2	1	22	1	0	0	0	0	0	0	0	1	296	1079	38	1		1	ADCY5	3	123049816	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2236	123049816	74972614	4373	6519											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	100					0	0	1	0	0	T	123051430	C	T	123051430	3	4	22	1	0	0	0	0	1	0	0	0	296	768	27	1	2358	1	ADCY5	3	123051430	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1614	123051430	74971000	4374	6520											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	154					8.24728e-16	9.03206e-16	1	1	0	T	123219521	G	T	123219521	3	4	22	1	0	0	0	0	1	0	0	0	12827	962	34	2	249	2	PTPLB	3	123219521	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168091	123219521	74802909	4375	6521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359169.1_Silent_p.E1747E|MYLK_ENST00000475616.1_Silent_p.E1798E|MYLK_ENST00000418370.2_Silent_p.E38E|MYLK_ENST00000360304.3_Silent_p.E1798E|MYLK_ENST00000583087.1_Silent_p.E38E|MYLK_ENST00000578202.1_Silent_p.E37E|MYLK_ENST00000354792.5_Silent_p.E598E|MYLK_ENST00000346322.5_Silent_p.E1729E|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000470449.1_RNA			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													75	346					0	0	1	0	0	T	123337592	C	T	123337592	2	4	22	1	0	0	0	0	0	0	0	1	10104	680	24	2		2	MYLK	3	123337592	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118071	123337592	74684838	4376	6522											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354792.5_Missense_Mutation_p.L567I|MYLK_ENST00000578202.1_Missense_Mutation_p.L7I|MYLK_ENST00000359169.1_Missense_Mutation_p.L1716I|MYLK_ENST00000418370.2_Missense_Mutation_p.L7I|MYLK_ENST00000346322.5_Missense_Mutation_p.L1698I|MYLK_ENST00000583087.1_Missense_Mutation_p.L7I|MYLK_ENST00000475616.1_Missense_Mutation_p.L1767I|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.L1767I|MYLK-AS1_ENST00000485162.1_RNA			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													201	923					8.23634e-74	1.04889e-73	1	1	0	T	123339123	G	T	123339123	3	4	22	1	0	0	0	0	1	0	0	0	10104	971	34	2	457	2	MYLK	3	123339123	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1531	123339123	74683307	4377	6523											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354792.5_Missense_Mutation_p.N498T|MYLK_ENST00000359169.1_Intron|MYLK_ENST00000360772.3_Intron|MYLK_ENST00000346322.5_Missense_Mutation_p.N1629T|MYLK_ENST00000475616.1_Missense_Mutation_p.N1698T|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000485162.1_RNA	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													68	281					0	0	1	0	0	G	123348342	T	G	123348342	3	3	22	1	0	0	0	0	1	0	0	0	10104	1493	52	3	671	3	MYLK	3	123348342	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9219	123348342	74674088	4378	6524											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354792.5_Missense_Mutation_p.S261F|MYLK_ENST00000359169.1_Missense_Mutation_p.S1461F|MYLK_ENST00000346322.5_Missense_Mutation_p.S1392F|MYLK_ENST00000475616.1_Missense_Mutation_p.S1461F|MYLK_ENST00000360304.3_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													111	484					0	0	1	0	0	A	123367851	G	A	123367851	3	1	22	1	0	0	0	0	1	0	0	0	10104	942	33	2	1398	2	MYLK	3	123367851	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19509	123367851	74654579	4379	6525											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000510775.1_5'UTR|MYLK_ENST00000359169.1_Missense_Mutation_p.A1179V|MYLK_ENST00000346322.5_Missense_Mutation_p.A1110V|MYLK_ENST00000475616.1_Missense_Mutation_p.A1179V|MYLK_ENST00000360304.3_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													64	280					0	0	1	0	0	A	123411611	G	A	123411611	3	1	22	1	0	0	0	0	1	0	0	0	10104	1087	38	1	2272	1	MYLK	3	123411611	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43760	123411611	74610819	4380	6526											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359169.1_Missense_Mutation_p.S700N|MYLK_ENST00000346322.5_Missense_Mutation_p.S631N|MYLK_ENST00000475616.1_Missense_Mutation_p.S700N|MYLK_ENST00000360304.3_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													70	333					0	0	1	0	0	T	123427586	C	T	123427586	3	4	22	1	0	0	0	0	1	0	0	0	10104	797	28	2	3725	2	MYLK	3	123427586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15975	123427586	74594844	4381	6527											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359169.1_Missense_Mutation_p.V600I|MYLK_ENST00000346322.5_Missense_Mutation_p.V531I|MYLK_ENST00000475616.1_Missense_Mutation_p.V600I|MYLK_ENST00000360304.3_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													4	28					0	0	1	0	0	T	123440981	C	T	123440981	3	4	22	1	0	0	0	0	1	0	0	0	10104	536	19	1	4034	1	MYLK	3	123440981	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13395	123440981	74581449	4382	6528											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359169.1_Missense_Mutation_p.T341N|MYLK_ENST00000346322.5_Missense_Mutation_p.T341N|MYLK_ENST00000475616.1_Missense_Mutation_p.T341N|MYLK_ENST00000360304.3_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													51	619					9.57592e-29	1.11608e-28	1	1	0	T	123452821	G	T	123452821	3	4	22	1	0	0	0	0	1	0	0	0	10104	1029	36	2	4822	2	MYLK	3	123452821	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11840	123452821	74569609	4383	6529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000310351.4_Silent_p.T193T|CCDC14_ENST00000433542.2_Silent_p.T312T|CCDC14_ENST00000489746.1_Silent_p.T153T|CCDC14_ENST00000488653.2_Silent_p.T353T|CCDC14_ENST00000483247.1_Intron			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													95	508					0	0	1	0	0	C	123665936	T	C	123665936	2	2	22	1	0	0	0	0	0	0	0	1	2791	1451	51	3		3	CCDC14	3	123665936	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	213115	123665936	74356494	4384	6530											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405845.3_Silent_p.P30P|ROPN1_ENST00000184183.4_Silent_p.P30P|ROPN1_ENST00000495093.1_Silent_p.P30P|ROPN1_ENST00000459660.1_Silent_p.P30P|ROPN1_ENST00000484329.1_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													11	425					0	0	1	0	0	T	123699239	C	T	123699239	2	4	22	1	0	0	0	0	0	0	0	1	13575	755	27	1		1	ROPN1	3	123699239	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33303	123699239	74323191	4385	6531											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000460856.1_Missense_Mutation_p.L508P|KALRN_ENST00000240874.3_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													100	515					0	0	1	0	0	C	124053224	T	C	124053224	3	2	22	1	0	0	0	0	1	0	0	0	8019	1580	55	3	1557	3	KALRN	3	124053224	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	353985	124053224	73969206	4386	6532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000460856.1_Missense_Mutation_p.L765M|KALRN_ENST00000240874.3_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													76	325					1.34568e-36	1.61182e-36	1	1	0	A	124117671	C	A	124117671	3	1	22	1	0	0	0	0	1	0	0	0	8019	796	28	2	2343	2	KALRN	3	124117671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64447	124117671	73904759	4387	6533											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000460856.1_Silent_p.L903L|KALRN_ENST00000240874.3_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													25	223					0	0	1	0	0	T	124149506	C	T	124149506	2	4	22	1	0	0	0	0	0	0	0	1	8019	912	32	2		2	KALRN	3	124149506	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31835	124149506	73872924	4388	6534											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000460856.1_Missense_Mutation_p.S1598I|KALRN_ENST00000240874.3_Missense_Mutation_p.S1607I	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													68	254					2.05175e-36	2.45602e-36	1	1	0	T	124211723	G	T	124211723	3	4	22	1	0	0	0	0	1	0	0	0	8019	1029	36	2	4946	2	KALRN	3	124211723	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62217	124211723	73810707	4389	6535											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	131					0	0	1	0	0	T	124281736	C	T	124281736	3	4	22	1	0	0	0	0	1	0	0	0	8019	768	27	1	5177	1	KALRN	3	124281736	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70013	124281736	73740694	4390	6536											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124380766G>A	ENST00000360013.3	+	45	6460	c.6333G>A	c.(6331-6333)caG>caA	p.Q2111Q	KALRN_ENST00000459915.1_Silent_p.Q203Q|KALRN_ENST00000428018.2_Silent_p.Q382Q|KALRN_ENST00000291478.4_Silent_p.Q414Q|KALRN_ENST00000393496.1_Silent_p.Q452Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2110					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													94	467					0	0	1	0	0	A	124380766	G	A	124380766	2	1	22	1	0	0	0	0	0	0	0	1	8019	991	35	2		2	KALRN	3	124380766	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99030	124380766	73641664	4391	6537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124413187G>T	ENST00000360013.3	+	53	7541	c.7414G>T	c.(7414-7416)Gaa>Taa	p.E2472*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.E743*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.E775*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2471	Ig-like C2-type.				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													12	523					1.3612e-06	1.40558e-06	1	1	0	T	124413187	G	T	124413187	4	4	22	1	0	0	0	0	0	1	0	0	8019	943	33	2	7780	2	KALRN	3	124413187	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32421	124413187	73609243	4392	6538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124413317A>C	ENST00000360013.3	+	53	7671	c.7544A>C	c.(7543-7545)gAt>gCt	p.D2515A	KALRN_ENST00000428018.2_Missense_Mutation_p.D786A|KALRN_ENST00000291478.4_Missense_Mutation_p.D818A	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2514	Ig-like C2-type.				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													71	383					0	0	1	0	0	C	124413317	A	C	124413317	3	2	22	1	0	0	0	0	1	0	0	0	8019	333	12	3	7910	3	KALRN	3	124413317	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	130	124413317	73609113	4393	6539											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	146					0	0	1	0	0	C	124454055	T	C	124454055	3	2	22	1	0	0	0	0	1	0	0	0	17041	1493	52	3	278	3	UMPS	3	124454055	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	40738	124454055	73568375	4394	6540											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538242.1_Missense_Mutation_p.T104I|UMPS_ENST00000536109.1_Missense_Mutation_p.T190I|UMPS_ENST00000498715.1_3'UTR|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													72	402					0	0	1	0	0	T	124456949	C	T	124456949	3	4	22	1	0	0	0	0	1	0	0	0	17041	565	20	2	855	2	UMPS	3	124456949	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2894	124456949	73565481	4395	6541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ITGB5_ENST00000488466.1_5'UTR	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													91	410					2.75442e-36	3.29635e-36	1	1	0	A	124527965	C	A	124527965	3	1	22	1	0	0	0	0	1	0	0	0	7942	796	28	2	1260	2	ITGB5	3	124527965	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71016	124527965	73494465	4396	6542											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ITGB5_ENST00000488466.1_Intron	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													40	210					0	0	1	0	0	A	124536539	G	A	124536539	3	1	22	1	0	0	0	0	1	0	0	0	7942	1261	44	2	1374	2	ITGB5	3	124536539	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8574	124536539	73485891	4397	6543											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	330					2.28164e-27	2.64155e-27	1	1	0	A	124578178	C	A	124578178	3	1	22	1	0	0	0	0	1	0	0	0	7942	797	28	2	2179	2	ITGB5	3	124578178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41639	124578178	73444252	4398	6544											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	155					0	0	1	0	0	A	124739746	G	A	124739746	3	1	22	1	0	0	0	0	1	0	0	0	7085	1059	37	1	3059	1	HEG1	3	124739746	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161568	124739746	73282684	4399	6545											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	190					0	0	1	0	0	A	124746246	G	A	124746246	3	1	22	1	0	0	0	0	1	0	0	0	7085	1087	38	1	3489	1	HEG1	3	124746246	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6500	124746246	73276184	4400	6546											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	197					0	0	1	0	0	A	124748188	G	A	124748188	3	1	22	1	0	0	0	0	1	0	0	0	7085	1059	37	1	3748	1	HEG1	3	124748188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1942	124748188	73274242	4401	6547											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	321					5.00936e-31	5.8875e-31	1	1	0	T	125266388	G	T	125266388	3	4	22	1	0	0	0	0	1	0	0	0	11323	1232	43	2	556	2	OSBPL11	3	125266388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	518200	125266388	72756042	4402	6548											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	322					0	0	1	0	0	C	125286413	T	C	125286413	2	2	22	1	0	0	0	0	0	0	0	1	11323	1838	64	3		3	OSBPL11	3	125286413	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20025	125286413	72736017	4403	6549											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000383598.2_3'UTR|SLC41A3_ENST00000346785.5_Missense_Mutation_p.A429D|SLC41A3_ENST00000360370.4_3'UTR	NM_001008485.1|NM_017836.3	NP_001008485.1|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													34	159					2.09667e-21	2.36065e-21	1	1	0	T	125725380	G	T	125725380	3	4	22	1	0	0	0	0	1	0	0	0	14686	971	34	2	133	2	SLC41A3	3	125725380	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	438967	125725380	72297050	4404	6550	39	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000383598.2_3'UTR|SLC41A3_ENST00000346785.5_Missense_Mutation_p.A428D|SLC41A3_ENST00000360370.4_3'UTR	NM_001008485.1|NM_017836.3	NP_001008485.1|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													37	153					1.03484e-13	1.11885e-13	1	1	0	T	125725383	G	T	125725383	3	4	22	1	0	0	0	0	1	0	0	0	14686	971	34	2	136	2	SLC41A3	3	125725383	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3	125725383	72297047	4405	6551	39	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346785.5_Missense_Mutation_p.P252Q|SLC41A3_ENST00000508835.1_Missense_Mutation_p.P171Q|SLC41A3_ENST00000360370.4_Missense_Mutation_p.P288Q	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													60	296					2.22609e-26	2.56449e-26	1	1	0	T	125735601	G	T	125735601	3	4	22	1	0	0	0	0	1	0	0	0	14686	1348	47	2	782	2	SLC41A3	3	125735601	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10218	125735601	72286829	4406	6552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.S777Y|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.S888Y|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.S878Y	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													98	423					5.30763e-54	6.62094e-54	1	1	0	T	125824589	G	T	125824589	3	4	22	1	0	0	0	0	1	0	0	0	491	942	33	2	83	2	ALDH1L1	3	125824589	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88988	125824589	72197841	4407	6553											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000273450.3_Missense_Mutation_p.Q703H|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.Q592H|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.Q693H|ALDH1L1_ENST00000393431.2_Intron	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													74	317					2.0493e-37	2.46103e-37	1	1	0	A	125833403	C	A	125833403	3	1	22	1	0	0	0	0	1	0	0	0	491	912	32	2	653	2	ALDH1L1	3	125833403	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8814	125833403	72189027	4408	6554											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000273450.3_Missense_Mutation_p.A477T|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A366T|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A467T|ALDH1L1_ENST00000393431.2_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													9	301					0	0	1	0	0	T	125854451	C	T	125854451	3	4	22	1	0	0	0	0	1	0	0	0	491	768	27	1	1357	1	ALDH1L1	3	125854451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21048	125854451	72167979	4409	6555											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000273450.3_Intron|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000472186.1_Intron|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000413612.1_Intron|ALDH1L1_ENST00000393434.2_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													8	38					0	0	1	0	0	T	125872144	C	T	125872144	3	4	22	1	0	0	0	0	1	0	0	0	491	493	17	2		2	ALDH1L1	3	125872144	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17693	125872144	72150286	4410	6556											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000273450.3_Missense_Mutation_p.A229T|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.A44T|ALDH1L1_ENST00000452905.2_Splice_Site_p.A118_splice|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A219T|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A219T|ALDH1L1_ENST00000413612.1_5'UTR	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													86	351					0	0	1	0	0	T	125873462	C	T	125873462	3	4	22	1	0	0	0	0	1	0	0	0	491	739	26	2	2125	2	ALDH1L1	3	125873462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1318	125873462	72148968	4411	6557											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	270					0	0	1	0	0	T	126062615	C	T	126062615	2	4	22	1	0	0	0	0	0	0	0	1	8386	697	25	2		2	KLF15	3	126062615	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	189153	126062615	71959815	4412	6558											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352312.1_Nonsense_Mutation_p.E270*|CCDC37_ENST00000505024.1_Nonsense_Mutation_p.E271*			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													15	428					2.32078e-09	2.442e-09	1	1	0	T	126138556	G	T	126138556	4	4	22	1	0	0	0	0	0	1	0	0	2828	1175	41	2	838	2	CCDC37	3	126138556	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75941	126138556	71883874	4413	6559											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352312.1_Missense_Mutation_p.Q321H|CCDC37_ENST00000505024.1_Missense_Mutation_p.Q322H			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													40	141					2.19358e-23	2.49351e-23	1	1	0	T	126138953	G	T	126138953	3	4	22	1	0	0	0	0	1	0	0	0	2828	991	35	2	1001	2	CCDC37	3	126138953	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	397	126138953	71883477	4414	6560											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126154401G>T	ENST00000393425.1	+	16	1730		c.e16-1		CCDC37_ENST00000506204.1_Splice_Site|CCDC37_ENST00000352312.1_Splice_Site|CCDC37_ENST00000505024.1_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													34	140					3.11337e-16	3.41587e-16	1	1	0	T	126154401	G	T	126154401	5	4	22	1	0	0	0	0	0	0	1	0	2828	956	33	2	1686	2	CCDC37	3	126154401	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15448	126154401	71868029	4415	6561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	327					0	0	1	0	0	T	126185060	C	T	126185060	3	4	22	1	0	0	0	0	1	0	0	0	18292	913	32	2	1227	2	ZXDC	3	126185060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30659	126185060	71837370	4416	6562											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126208217G>A	ENST00000290868.2	-	17	1663	c.1608_splice	c.e17-1	p.A537_splice	UROC1_ENST00000383579.3_Splice_Site_p.A597_splice	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													68	346					0	0	1	0	0	A	126208217	G	A	126208217	5	1	22	1	0	0	0	0	0	0	1	0	17088	1101	38	1	436	1	UROC1	3	126208217	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23157	126208217	71814213	4417	6563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	94					0	0	1	0	0	T	126211352	C	T	126211352	3	4	22	1	0	0	0	0	1	0	0	0	17088	739	26	2	533	2	UROC1	3	126211352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3135	126211352	71811078	4418	6564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	150					0	0	1	0	0	A	126710388	G	A	126710388	2	1	22	1	0	0	0	0	0	0	0	1	12167	1074	38	1		1	PLXNA1	3	126710388	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	499036	126710388	71312042	4419	6565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	172					0	0	1	0	0	T	126733350	C	T	126733350	2	4	22	1	0	0	0	0	0	0	0	1	12167	755	27	1		1	PLXNA1	3	126733350	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22962	126733350	71289080	4420	6566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	413					0	0	1	0	0	A	126735415	G	A	126735415	3	1	22	1	0	0	0	0	1	0	0	0	12167	1087	38	1	3128	1	PLXNA1	3	126735415	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2065	126735415	71287015	4421	6567											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	296					5.82218e-30	6.81768e-30	1	1	0	A	126735821	C	A	126735821	3	1	22	1	0	0	0	0	1	0	0	0	12167	680	24	2	3279	2	PLXNA1	3	126735821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	406	126735821	71286609	4422	6568											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	312					0	0	1	0	0	T	126736699	C	T	126736699	2	4	22	1	0	0	0	0	0	0	0	1	12167	776	27	1		1	PLXNA1	3	126736699	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	878	126736699	71285731	4423	6569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	127					0	0	1	0	0	A	126741028	G	A	126741028	3	1	22	1	0	0	0	0	1	0	0	0	12167	971	34	2	4221	2	PLXNA1	3	126741028	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4329	126741028	71281402	4424	6570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	156					2.68265e-12	2.87809e-12	1	1	0	T	126741119	G	T	126741119	3	4	22	1	0	0	0	0	1	0	0	0	12167	962	34	2	4312	2	PLXNA1	3	126741119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91	126741119	71281311	4425	6571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000489960.1_Missense_Mutation_p.L117M|TPRA1_ENST00000296210.7_Missense_Mutation_p.L117M|TPRA1_ENST00000450633.2_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													55	220					9.57592e-29	1.11608e-28	1	1	0	T	127295733	G	T	127295733	3	4	22	1	0	0	0	0	1	0	0	0	16478	991	35	2	800	2	TPRA1	3	127295733	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	554614	127295733	70726697	4426	6572											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127318161G>A	ENST00000265056.7	+	2	251	c.6_splice	c.e2-1	p.E3_splice		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													269	1188					0	0	1	0	0	A	127318161	G	A	127318161	5	1	22	1	0	0	0	0	0	0	1	0	9436	1188	41	2	13	2	MCM2	3	127318161	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22428	127318161	70704269	4427	6573											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													170	768					0	0	1	0	0	T	127339940	C	T	127339940	3	4	22	1	0	0	0	0	1	0	0	0	9436	643	23	1	2531	1	MCM2	3	127339940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21779	127339940	70682490	4428	6574											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393363.3_5'UTR|ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000468137.1_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													17	108					0	0	1	0	0	T	127394818	C	T	127394818	3	4	22	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	4429	6575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398104.1_Intron|MGLL_ENST00000434178.2_Intron|MGLL_ENST00000265052.5_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													100	475					1.08058e-43	1.32003e-43	1	1	0	T	127454569	G	T	127454569	3	4	22	1	0	0	0	0	1	0	0	0	9605	986	34	2		2	MGLL	3	127454569	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59751	127454569	70567861	4430	6576											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398104.1_Missense_Mutation_p.G56S|MGLL_ENST00000265052.5_Missense_Mutation_p.G66S			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													10	385					0	0	1	0	0	T	127500698	C	T	127500698	3	4	22	1	0	0	0	0	1	0	0	0	9605	594	21	2	769	2	MGLL	3	127500698	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46129	127500698	70521732	4431	6577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000492025.1_Intron|KBTBD12_ENST00000407609.3_Silent_p.L33L|KBTBD12_ENST00000343941.4_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													60	235					0	0	1	0	0	A	127646814	G	A	127646814	2	1	22	1	0	0	0	0	0	0	0	1	8035	1339	47	2		2	KBTBD12	3	127646814	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146116	127646814	70375616	4432	6578											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424880.2_Intron|SEC61A1_ENST00000464451.1_Missense_Mutation_p.A116T	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													27	312					0	0	1	0	0	A	127775659	G	A	127775659	3	1	22	1	0	0	0	0	1	0	0	0	14054	971	34	2	346	2	SEC61A1	3	127775659	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128845	127775659	70246771	4433	6579											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													214	960					1.23709e-56	1.54833e-56	1	1	0	A	127965783	C	A	127965783	3	1	22	1	0	0	0	0	1	0	0	0	4957	796	28	2	427	2	EEFSEC	3	127965783	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	190124	127965783	70056647	4434	6580											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	203					0	0	1	0	0	T	128126977	C	T	128126977	3	4	22	1	0	0	0	0	1	0	0	0	4957	652	23	1	1692	1	EEFSEC	3	128126977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161194	128126977	69895453	4435	6581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	318					0	0	1	0	0	A	128181722	G	A	128181722	3	1	22	1	0	0	0	0	1	0	0	0	4653	1116	39	1	335	1	DNAJB8	3	128181722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54745	128181722	69840708	4436	6582											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000487848.1_Silent_p.H244H|GATA2_ENST00000430265.2_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)								17	226					0	0	1	0	0	A	128204709	G	A	128204709	2	1	22	1	0	0	0	0	0	0	0	1	6294	1252	44	2		2	GATA2	3	128204709	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22987	128204709	69817721	4437	6583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128514202G>A	ENST00000265062.3	+	2	238		c.e2-1		RAB7A_ENST00000485280.1_5'UTR|RAB7A_ENST00000482525.1_Splice_Site	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)	67	330					0	0	1	0	0	A	128514202	G	A	128514202	5	1	22	1	0	0	0	0	0	0	1	0	13006	1043	36	2		2	RAB7A	3	128514202	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	309493	128514202	69508228	4438	6584											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	331					0	0	1	0	0	A	128621399	G	A	128621399	3	1	22	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	4439	6585											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.G211S|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													71	330					0	0	1	0	0	T	128706495	C	T	128706495	3	4	22	1	0	0	0	0	1	0	0	0	8260	652	23	1	618	1	KIAA1257	3	128706495	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85096	128706495	69315935	4440	6586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000510149.1_Intron|KIAA1257_ENST00000511438.1_Missense_Mutation_p.E56D	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													117	490					9.16818e-52	1.13871e-51	1	1	0	A	128711980	C	A	128711980	3	1	22	1	0	0	0	0	1	0	0	0	8260	564	20	2	1089	2	KIAA1257	3	128711980	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5485	128711980	69310450	4441	6587											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	304					0	0	1	0	0	A	128780850	G	A	128780850	3	1	22	1	0	0	0	0	1	0	0	0	6625	1290	45	2	270	2	GP9	3	128780850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68870	128780850	69241580	4442	6588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	171					1.00905e-13	1.09121e-13	1	1	0	T	128780912	G	T	128780912	3	4	22	1	0	0	0	0	1	0	0	0	6625	991	35	2	332	2	GP9	3	128780912	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62	128780912	69241518	4443	6589											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000502976.1_Missense_Mutation_p.T126I|CNBP_ENST00000451728.2_Missense_Mutation_p.T134I|CNBP_ENST00000441626.2_Missense_Mutation_p.T135I|CNBP_ENST00000504813.1_Missense_Mutation_p.T123I|CNBP_ENST00000500450.2_Missense_Mutation_p.T116I|CNBP_ENST00000446936.2_Missense_Mutation_p.T128I	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													55	293					0	0	1	0	0	A	128889940	G	A	128889940	3	1	22	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	4444	6590											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000502976.1_Nonsense_Mutation_p.R11*|CNBP_ENST00000451728.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000441626.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000504813.1_Nonsense_Mutation_p.R11*|CNBP_ENST00000500450.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000446936.2_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													49	181					0	0	1	0	0	A	128890570	G	A	128890570	4	1	22	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	4445	6591											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128890615C>A	ENST00000422453.2	-	2	147		c.e2-1		CNBP_ENST00000502976.1_Splice_Site|CNBP_ENST00000451728.2_Splice_Site|CNBP_ENST00000441626.2_Splice_Site|CNBP_ENST00000504813.1_Splice_Site|CNBP_ENST00000500450.2_Splice_Site|CNBP_ENST00000446936.2_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													18	185					9.7654e-05	9.93505e-05	1	1	0	A	128890615	C	A	128890615	5	1	22	1	0	0	0	0	0	0	1	0	3615	927	32	2		2	CNBP	3	128890615	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45	128890615	69131815	4446	6592											
C3orf37	0	broad.mit.edu	37	chr3	128998687	128998687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggagggaccctgataagTactgcccctcttacaacaag	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128998687T>C	ENST00000383463.4	+	2	201	c.112T>C	c.(112-114)Tac>Cac	p.Y38H	C3orf37_ENST00000389735.3_Missense_Mutation_p.Y38H|C3orf37_ENST00000417226.2_Missense_Mutation_p.Y38H|C3orf37_ENST00000502878.2_Missense_Mutation_p.Y38H	NM_020187.2	NP_064572.2	Q96FZ2	CC037_HUMAN		38										breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						CCCTGATAAGTACTGCCCCTC	0.552													48	217					0	0	1	0	0	C	128998687	T	C	128998687	3	2	22	1	0	0	0	0	1	0	0	0	2241	1638	57	3	114	3	C3orf37	3	128998687	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	108072	128998687	69023743	4447	6593											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504021.1_Missense_Mutation_p.K1061N|IFT122_ENST00000440957.2_Missense_Mutation_p.K975N|IFT122_ENST00000347300.2_Missense_Mutation_p.K1125N|IFT122_ENST00000431818.2_Missense_Mutation_p.K1034N|IFT122_ENST00000507564.1_Missense_Mutation_p.K1177N|IFT122_ENST00000349441.2_Missense_Mutation_p.K1074N|IFT122_ENST00000348417.2_Missense_Mutation_p.K1184N	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													72	329					1.52808e-22	1.72976e-22	1	1	0	T	129238491	G	T	129238491	3	4	22	1	0	0	0	0	1	0	0	0	7599	962	34	2	3826	2	IFT122	3	129238491	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	239804	129238491	68783939	4448	6594											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504021.1_Missense_Mutation_p.R1073H|IFT122_ENST00000440957.2_Missense_Mutation_p.R987H|IFT122_ENST00000347300.2_Missense_Mutation_p.R1137H|IFT122_ENST00000431818.2_Missense_Mutation_p.R1046H|IFT122_ENST00000507564.1_Missense_Mutation_p.R1189H|IFT122_ENST00000349441.2_Missense_Mutation_p.R1086H|IFT122_ENST00000348417.2_Missense_Mutation_p.R1196H	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													81	421					0	0	1	0	0	A	129238526	G	A	129238526	3	1	22	1	0	0	0	0	1	0	0	0	7599	1087	38	1	3861	1	IFT122	3	129238526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35	129238526	68783904	4449	6595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	201					0	0	1	0	0	C	129281956	T	C	129281956	3	2	22	1	0	0	0	0	1	0	0	0	12175	1725	60	3	1172	3	PLXND1	3	129281956	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43430	129281956	68740474	4450	6596											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	325					0	0	1	0	0	T	129284287	C	T	129284287	3	4	22	1	0	0	0	0	1	0	0	0	12175	768	27	1	1408	1	PLXND1	3	129284287	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2331	129284287	68738143	4451	6597											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	28					0	0	1	0	0	T	129305525	C	T	129305525	3	4	22	1	0	0	0	0	1	0	0	0	12175	652	23	1	4387	1	PLXND1	3	129305525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21238	129305525	68716905	4452	6598											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000329333.5_Missense_Mutation_p.F469L|TMCC1_ENST00000426664.2_Missense_Mutation_p.F534L|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													83	493					2.73807e-63	3.45546e-63	1	1	0	T	129370342	G	T	129370342	3	4	22	1	0	0	0	0	1	0	0	0	16052	933	33	2	21	2	TMCC1	3	129370342	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64817	129370342	68652088	4453	6599											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000329333.5_Silent_p.S362S|TMCC1_ENST00000426664.2_Silent_p.S427S|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													13	595					0	0	1	0	0	A	129373835	G	A	129373835	2	1	22	1	0	0	0	0	0	0	0	1	16052	987	35	2		2	TMCC1	3	129373835	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3493	129373835	68648595	4454	6600											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000329333.5_Silent_p.I344I|TMCC1_ENST00000426664.2_Silent_p.I409I|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													102	374					0	0	1	0	0	A	129373889	G	A	129373889	2	1	22	1	0	0	0	0	0	0	0	1	16052	932	33	2		2	TMCC1	3	129373889	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54	129373889	68648541	4455	6601											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000329333.5_Missense_Mutation_p.T112I|TMCC1_ENST00000426664.2_Missense_Mutation_p.T177I|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													147	607					0	0	1	0	0	A	129389812	G	A	129389812	3	1	22	1	0	0	0	0	1	0	0	0	16052	1029	36	2	1101	2	TMCC1	3	129389812	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15923	129389812	68632618	4456	6602											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	392					0	0	1	0	0	A	129695746	G	A	129695746	3	1	22	1	0	0	0	0	1	0	0	0	16539	1116	39	1	422	1	TRH	3	129695746	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	305934	129695746	68326684	4457	6603											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	58					1.96292e-10	2.08093e-10	1	1	0	A	130095372	C	A	130095372	2	1	22	1	0	0	0	0	0	0	0	1	3725	668	24	2		2	COL6A5	3	130095372	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	399626	130095372	67927058	4458	6604											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	434					7.52027e-40	9.1024e-40	1	1	0	A	130285742	C	A	130285742	4	1	22	1	0	0	0	0	0	1	0	0	3726	576	20	2	1493	2	COL6A6	3	130285742	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	190370	130285742	67736688	4459	6605											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	410					0	0	1	0	0	T	130287198	C	T	130287198	2	4	22	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	4460	6606											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	181					0	0	1	0	0	C	130292992	T	C	130292992	3	2	22	1	0	0	0	0	1	0	0	0	3726	1783	62	3	3196	3	COL6A6	3	130292992	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5794	130292992	67729438	4461	6607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	243					0	0	1	0	0	T	130405110	C	T	130405110	2	4	22	1	0	0	0	0	0	0	0	1	11969	564	20	2		2	PIK3R4	3	130405110	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112118	130405110	67617320	4462	6608											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	205					0	0	1	0	0	G	130425901	A	G	130425901	3	3	22	1	0	0	0	0	1	0	0	0	11969	217	8	3	1504	3	PIK3R4	3	130425901	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20791	130425901	67596529	4463	6609											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	372					0	0	1	0	0	A	130435274	G	A	130435274	3	1	22	1	0	0	0	0	1	0	0	0	11969	1203	42	2	1827	2	PIK3R4	3	130435274	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9373	130435274	67587156	4464	6610											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	295					9.04393e-38	1.08724e-37	1	1	0	A	130454718	C	A	130454718	4	1	22	1	0	0	0	0	0	1	0	0	11969	922	32	2	3286	2	PIK3R4	3	130454718	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19444	130454718	67567712	4465	6611											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504948.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000504381.1_Missense_Mutation_p.V64I|ATP2C1_ENST00000422190.2_Missense_Mutation_p.V119I|ATP2C1_ENST00000359644.3_Missense_Mutation_p.V119I|ATP2C1_ENST00000428331.2_Missense_Mutation_p.V119I|ATP2C1_ENST00000328560.8_Missense_Mutation_p.V119I|ATP2C1_ENST00000393221.4_Missense_Mutation_p.V153I|ATP2C1_ENST00000533801.2_Missense_Mutation_p.V114I|ATP2C1_ENST00000505330.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000507488.2_Missense_Mutation_p.V103I|ATP2C1_ENST00000508532.1_Missense_Mutation_p.V119I|ATP2C1_ENST00000513801.1_Missense_Mutation_p.V103I			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				5	192					0	0	1	0	0	A	130656302	G	A	130656302	3	1	22	1	0	0	0	0	1	0	0	0	1142	1377	48	2	373	2	ATP2C1	3	130656302	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201584	130656302	67366128	4466	6612											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130675022A>C	ENST00000510168.1	+	11	1381	c.832_splice	c.e11+1	p.I277_splice	ATP2C1_ENST00000504948.1_Splice_Site_p.I261_splice|ATP2C1_ENST00000504381.1_Splice_Site_p.I222_splice|ATP2C1_ENST00000422190.2_Splice_Site_p.I277_splice|ATP2C1_ENST00000359644.3_Splice_Site_p.I277_splice|ATP2C1_ENST00000428331.2_Splice_Site_p.I277_splice|ATP2C1_ENST00000328560.8_Splice_Site_p.I277_splice|ATP2C1_ENST00000393221.4_Splice_Site_p.I311_splice|ATP2C1_ENST00000533801.2_Splice_Site_p.I272_splice|ATP2C1_ENST00000505330.1_Splice_Site_p.I261_splice|ATP2C1_ENST00000507488.2_Splice_Site_p.I261_splice|ATP2C1_ENST00000508532.1_Splice_Site_p.I277_splice|ATP2C1_ENST00000513801.1_Splice_Site_p.I261_splice			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				52	170					0	0	1	0	0	C	130675022	A	C	130675022	5	2	22	1	0	0	0	0	0	0	1	0	1142	434	15	3	869	3	ATP2C1	3	130675022	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18720	130675022	67347408	4467	6613											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504948.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000504381.1_Missense_Mutation_p.R709H|ATP2C1_ENST00000422190.2_Missense_Mutation_p.R764H|ATP2C1_ENST00000359644.3_Missense_Mutation_p.R764H|ATP2C1_ENST00000428331.2_Missense_Mutation_p.R764H|ATP2C1_ENST00000328560.8_Missense_Mutation_p.R764H|ATP2C1_ENST00000393221.4_Missense_Mutation_p.R798H|ATP2C1_ENST00000533801.2_Missense_Mutation_p.R759H|ATP2C1_ENST00000505330.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000507488.2_Missense_Mutation_p.R748H|ATP2C1_ENST00000508532.1_Missense_Mutation_p.R764H|ATP2C1_ENST00000513801.1_Missense_Mutation_p.R748H			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				90	466					0	0	1	0	0	A	130716497	G	A	130716497	3	1	22	1	0	0	0	0	1	0	0	0	1142	1087	38	1	2385	1	ATP2C1	3	130716497	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41475	130716497	67305933	4468	6614											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130851590A>G	ENST00000383366.4	+	6	750	c.455_splice	c.e6-1	p.R153_splice	NEK11_ENST00000507910.1_Splice_Site_p.R153_splice|NEK11_ENST00000356918.4_Splice_Site_p.R153_splice|NEK11_ENST00000511262.1_Splice_Site_p.R153_splice|NEK11_ENST00000508196.1_Splice_Site_p.R153_splice|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000429253.2_Splice_Site_p.R153_splice|NEK11_ENST00000412440.2_Splice_Site_p.R5_splice|NEK11_ENST00000510769.1_Splice_Site_p.R153_splice|NEK11_ENST00000510688.1_Splice_Site_p.R153_splice	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													6	42					0	0	1	0	0	G	130851590	A	G	130851590	5	3	22	1	0	0	0	0	0	0	1	0	10370	318	11	3	471	3	NEK11	3	130851590	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	135093	130851590	67170840	4469	6615											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356918.4_Missense_Mutation_p.A233T|NEK11_ENST00000511262.1_Missense_Mutation_p.A233T|NEK11_ENST00000508196.1_Missense_Mutation_p.A233T|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000429253.2_Missense_Mutation_p.A233T|NEK11_ENST00000412440.2_Missense_Mutation_p.A85T|NEK11_ENST00000510769.1_Intron|NEK11_ENST00000510688.1_Missense_Mutation_p.A233T	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													114	438					0	0	1	0	0	A	130871281	G	A	130871281	3	1	22	1	0	0	0	0	1	0	0	0	10370	1087	38	1	719	1	NEK11	3	130871281	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19691	130871281	67151149	4470	6616											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508196.1_Silent_p.P554P|NEK11_ENST00000429253.2_Silent_p.P554P|NEK11_ENST00000412440.2_Silent_p.P370P|NEK11_ENST00000510769.1_Silent_p.P449P|NEK11_ENST00000510688.1_Intron	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													35	201					0	0	1	0	0	C	130992362	A	C	130992362	2	2	22	1	0	0	0	0	0	0	0	1	10370	175	7	3		3	NEK11	3	130992362	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	121081	130992362	67030068	4471	6617											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	356					0	0	1	0	0	T	131102014	C	T	131102014	2	4	22	1	0	0	0	0	0	0	0	1	10780	726	26	2		2	NUDT16	3	131102014	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109652	131102014	66920416	4472	6618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512332.1_Missense_Mutation_p.L457M|CPNE4_ENST00000502818.1_Missense_Mutation_p.L457M|CPNE4_ENST00000429747.1_Missense_Mutation_p.L439M|CPNE4_ENST00000511604.1_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													58	209					2.40265e-35	2.8676e-35	1	1	0	T	131261625	G	T	131261625	3	4	22	1	0	0	0	0	1	0	0	0	3837	991	35	2	366	2	CPNE4	3	131261625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	159611	131261625	66760805	4473	6619											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512332.1_Missense_Mutation_p.R384M|CPNE4_ENST00000502818.1_Missense_Mutation_p.R384M|CPNE4_ENST00000429747.1_Missense_Mutation_p.R366M|CPNE4_ENST00000511604.1_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													22	106					1.10513e-12	1.18868e-12	1	1	0	A	131274360	C	A	131274360	3	1	22	1	0	0	0	0	1	0	0	0	3837	681	24	2	596	2	CPNE4	3	131274360	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12735	131274360	66748070	4474	6620											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	229					0	0	1	0	0	A	132169692	G	A	132169692	5	1	22	1	0	0	0	0	0	0	1	0	4659	1275	44	2	556	2	DNAJC13	3	132169692	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	895332	132169692	65852738	4475	6621											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	362					0	0	1	0	0	C	132180039	A	C	132180039	3	2	22	1	0	0	0	0	1	0	0	0	4659	14	1	3	1757	3	DNAJC13	3	132180039	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10347	132180039	65842391	4476	6622											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_115545.3			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													58	201					8.72158e-25	9.98758e-25	1	1	0	A	132277901	C	A	132277901	3	1	22	1	0	0	0	0	1	0	0	0	109	797	28	2	89	2	ACAD11	3	132277901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97862	132277901	65744529	4477	6623											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_115545.3			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													73	277					0	0	1	0	0	A	132294689	G	A	132294689	3	1	22	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	4478	6624											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481970.2_Silent_p.L201L|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000489991.1_Intron	NM_032169.4	NP_115545.3			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													47	216					0	0	1	0	0	A	132358437	G	A	132358437	2	1	22	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	4479	6625											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000493720.2_Missense_Mutation_p.D290Y|UBA5_ENST00000473651.1_Missense_Mutation_p.D290Y|UBA5_ENST00000494238.2_Missense_Mutation_p.D234Y|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													11	282					5.16669e-11	5.49905e-11	1	1	0	T	132394147	G	T	132394147	3	4	22	1	0	0	0	0	1	0	0	0	16891	1174	41	2	902	2	UBA5	3	132394147	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35710	132394147	65628283	4480	6626											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													240	1054					0	0	1	0	0	C	132423136	A	C	132423136	3	2	22	1	0	0	0	0	1	0	0	0	10627	14	1	3	2638	3	NPHP3	3	132423136	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28989	132423136	65599294	4481	6627											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	447					0	0	1	0	0	A	133118967	G	A	133118967	3	1	22	1	0	0	0	0	1	0	0	0	1415	1319	46	2	42	2	BFSP2	3	133118967	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	695831	133118967	64903463	4482	6628											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	162					8.69298e-16	9.51602e-16	1	1	0	A	133119358	C	A	133119358	3	1	22	1	0	0	0	0	1	0	0	0	1415	739	26	2	433	2	BFSP2	3	133119358	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	391	133119358	64903072	4483	6629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					20	53					0	0	1	0	0	A	133320197	G	A	133320197	3	1	22	1	0	0	0	0	1	0	0	0	16430	971	34	2	106	2	TOPBP1	3	133320197	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200839	133320197	64702233	4484	6630											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					126	465					0	0	1	0	0	G	133337217	A	G	133337217	2	3	22	1	0	0	0	0	0	0	0	1	16430	10	1	3		3	TOPBP1	3	133337217	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17020	133337217	64685213	4485	6631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					23	179					0	0	1	0	0	T	133341974	C	T	133341974	3	4	22	1	0	0	0	0	1	0	0	0	16430	797	28	2	1469	2	TOPBP1	3	133341974	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4757	133341974	64680456	4486	6632											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					87	372					1.17611e-34	1.40019e-34	1	1	0	T	133375563	G	T	133375563	3	4	22	1	0	0	0	0	1	0	0	0	16430	971	34	2	4162	2	TOPBP1	3	133375563	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33589	133375563	64646867	4487	6633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543906.1_Missense_Mutation_p.D190N|RAB6B_ENST00000469959.1_Intron|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													206	937					0	0	1	0	0	T	133547691	C	T	133547691	3	4	22	1	0	0	0	0	1	0	0	0	13004	884	31	1	62	1	RAB6B	3	133547691	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172128	133547691	64474739	4488	6634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	138					0	0	1	0	0	A	133654654	G	A	133654654	3	1	22	1	0	0	0	0	1	0	0	0	14781	1203	42	2	161	2	SLCO2A1	3	133654654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106963	133654654	64367776	4489	6635											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	161					0	0	1	0	0	A	133674026	G	A	133674026	3	1	22	1	0	0	0	0	1	0	0	0	14781	1116	39	1	1566	1	SLCO2A1	3	133674026	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19372	133674026	64348404	4490	6636											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422605.2_Silent_p.E435E|AMOTL2_ENST00000513145.1_Silent_p.E435E|AMOTL2_ENST00000249883.5_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													11	50					0	0	1	0	0	T	134080624	C	T	134080624	2	4	22	1	0	0	0	0	0	0	0	1	580	912	32	2		2	AMOTL2	3	134080624	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	406598	134080624	63941806	4491	6637											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422605.2_Missense_Mutation_p.A421T|AMOTL2_ENST00000513145.1_Missense_Mutation_p.A421T|AMOTL2_ENST00000249883.5_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													80	429					0	0	1	0	0	T	134084677	C	T	134084677	3	4	22	1	0	0	0	0	1	0	0	0	580	739	26	2	1105	2	AMOTL2	3	134084677	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4053	134084677	63937753	4492	6638											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000606977.1_Missense_Mutation_p.R46H|CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000513612.2_Missense_Mutation_p.R46H|CEP63_ENST00000383229.3_Missense_Mutation_p.R46H|CEP63_ENST00000332047.5_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													81	331					0	0	1	0	0	A	134226043	G	A	134226043	3	1	22	1	0	0	0	0	1	0	0	0	3279	1145	40	1	143	1	CEP63	3	134226043	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141366	134226043	63796387	4493	6639											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	94					0	0	1	0	0	A	134322952	G	A	134322952	2	1	22	1	0	0	0	0	0	0	0	1	8625	1078	38	1		1	KY	3	134322952	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96909	134322952	63699478	4494	6640											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	88					0	0	1	0	0	A	134322979	G	A	134322979	2	1	22	1	0	0	0	0	0	0	0	1	8625	1078	38	1		1	KY	3	134322979	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27	134322979	63699451	4495	6641											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503669.1_Silent_p.L69L|KY_ENST00000508956.1_Intron	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													31	130					0	0	1	0	0	G	134362215	A	G	134362215	2	3	22	1	0	0	0	0	0	0	0	1	8625	69	3	3		3	KY	3	134362215	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39236	134362215	63660215	4496	6642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	312					6.5469e-37	7.85029e-37	1	1	0	A	135721855	C	A	135721855	3	1	22	1	0	0	0	0	1	0	0	0	12437	738	26	2	1517	2	PPP2R3A	3	135721855	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1359640	135721855	62300575	4497	6643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	333					0	0	1	0	0	G	135722249	T	G	135722249	3	3	22	1	0	0	0	0	1	0	0	0	12437	1838	64	3	1911	3	PPP2R3A	3	135722249	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	394	135722249	62300181	4498	6644											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	328					0	0	1	0	0	T	135741936	C	T	135741936	4	4	22	1	0	0	0	0	0	1	0	0	12437	528	19	1	2026	1	PPP2R3A	3	135741936	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19687	135741936	62280494	4499	6645											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000469270.1_3'UTR|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.A450V|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.A335V	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													63	236					0	0	1	0	0	T	135822208	C	T	135822208	3	4	22	1	0	0	0	0	1	0	0	0	12437	768	27	1	3390	1	PPP2R3A	3	135822208	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80272	135822208	62200222	4500	6646											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	389					0	0	1	0	0	A	135870542	G	A	135870542	3	1	22	1	0	0	0	0	1	0	0	0	9927	1377	48	2	556	2	MSL2	3	135870542	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48334	135870542	62151888	4501	6647											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536929.1_Missense_Mutation_p.T638I|STAG1_ENST00000236698.5_Missense_Mutation_p.T1054I|STAG1_ENST00000434713.2_Missense_Mutation_p.T794I	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													100	367					0	0	1	0	0	A	136068110	G	A	136068110	3	1	22	1	0	0	0	0	1	0	0	0	15298	1029	36	2	639	2	STAG1	3	136068110	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	197568	136068110	61954320	4502	6648											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536929.1_Missense_Mutation_p.I508T|STAG1_ENST00000236698.5_Missense_Mutation_p.I924T|STAG1_ENST00000434713.2_Intron	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													38	190					0	0	1	0	0	G	136082224	A	G	136082224	3	3	22	1	0	0	0	0	1	0	0	0	15298	101	4	3	1041	3	STAG1	3	136082224	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14114	136082224	61940206	4503	6649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536929.1_Silent_p.D426D|STAG1_ENST00000236698.5_Silent_p.D842D|STAG1_ENST00000434713.2_Silent_p.D616D	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													20	213					0	0	1	0	0	A	136087969	G	A	136087969	2	1	22	1	0	0	0	0	0	0	0	1	15298	1136	40	1		1	STAG1	3	136087969	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5745	136087969	61934461	4504	6650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	425					0	0	1	0	0	A	136664506	G	A	136664506	3	1	22	1	0	0	0	0	1	0	0	0	10266	1145	40	1	314	1	NCK1	3	136664506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	576537	136664506	61357924	4505	6651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	438					0	0	1	0	0	A	136664529	G	A	136664529	3	1	22	1	0	0	0	0	1	0	0	0	10266	1087	38	1	337	1	NCK1	3	136664529	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	136664529	61357901	4506	6652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|NCK1_ENST00000481752.1_Missense_Mutation_p.R344C|IL20RB_ENST00000484501.1_Intron	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													58	263					0	0	1	0	0	T	136667191	C	T	136667191	3	4	22	1	0	0	0	0	1	0	0	0	10266	768	27	1	1040	1	NCK1	3	136667191	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2662	136667191	61355239	4507	6653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													227	1073					0	0	1	0	0	T	137783593	C	T	137783593	2	4	22	1	0	0	0	0	0	0	0	1	4890	871	31	1		1	DZIP1L	3	137783593	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1116402	137783593	60238837	4508	6654											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	292					0	0	1	0	0	T	137787054	C	T	137787054	3	4	22	1	0	0	0	0	1	0	0	0	4890	768	27	1	548	1	DZIP1L	3	137787054	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3461	137787054	60235376	4509	6655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	62	269					0	0	1	0	0	A	137787193	G	A	137787193	2	1	22	1	0	0	0	0	0	0	0	1	4890	1310	46	2		2	DZIP1L	3	137787193	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139	137787193	60235237	4510	6656											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000463982.2_5'UTR|DBR1_ENST00000505015.2_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													23	72					0	0	1	0	0	C	137893465	T	C	137893465	3	2	22	1	0	0	0	0	1	0	0	0	4281	1406	49	3	1493	3	DBR1	3	137893465	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	106272	137893465	60128965	4511	6657											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481646.1_Silent_p.G594G|ARMC8_ENST00000538260.1_Silent_p.G577G|ARMC8_ENST00000393058.3_Silent_p.G598G|NME9_ENST00000341790.5_Intron|ARMC8_ENST00000485396.1_Silent_p.G535G|NME9_ENST00000484930.1_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000461822.1_Silent_p.G541G|NME9_ENST00000383180.2_Intron|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000491704.1_Silent_p.G566G	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													21	98					0	0	1	0	0	T	138007892	C	T	138007892	2	4	22	1	0	0	0	0	0	0	0	1	956	726	26	2		2	ARMC8	3	138007892	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114427	138007892	60014538	4512	6658											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	596					0	0	1	0	0	A	138191410	G	A	138191410	3	1	22	1	0	0	0	0	1	0	0	0	5294	1029	36	2	2016	2	ESYT3	3	138191410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183518	138191410	59831020	4513	6659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	606					0	0	1	0	0	T	138192394	C	T	138192394	4	4	22	1	0	0	0	0	0	1	0	0	5294	760	27	1	2328	1	ESYT3	3	138192394	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	984	138192394	59830036	4514	6660											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	273					0	0	1	0	0	C	138195085	T	C	138195085	3	2	22	1	0	0	0	0	1	0	0	0	5294	1464	51	3	2571	3	ESYT3	3	138195085	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2691	138195085	59827345	4515	6661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	190					0	0	1	0	0	A	138669185	G	A	138669185	3	1	22	1	0	0	0	0	1	0	0	0	2258	1087	38	1	309	1	C3orf72	3	138669185	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	474100	138669185	59353245	4516	6662											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	393					0	0	1	0	0	T	138669383	C	T	138669383	3	4	22	1	0	0	0	0	1	0	0	0	2258	797	28	2	507	2	C3orf72	3	138669383	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198	138669383	59353047	4517	6663											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	241					0	0	1	0	0	A	139097937	G	A	139097937	3	1	22	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	4518	6664											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	253					0	0	1	0	0	T	139195235	C	T	139195235	3	4	22	1	0	0	0	0	1	0	0	0	13208	739	26	2	353	2	RBP2	3	139195235	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97298	139195235	58827195	4519	6665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000339837.5_Silent_p.I41I|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000507242.1_5'UTR|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000512391.1_Silent_p.I78I|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000511444.1_Silent_p.I41I|NMNAT3_ENST00000296202.7_Silent_p.I78I			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													38	217					0	0	1	0	0	A	139297773	G	A	139297773	2	1	22	1	0	0	0	0	0	0	0	1	10547	1164	41	2		2	NMNAT3	3	139297773	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102538	139297773	58724657	4520	6666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			60	304					0	0	1	0	0	C	140277580	A	C	140277580	3	2	22	1	0	0	0	0	1	0	0	0	3585	275	10	3	1968	3	CLSTN2	3	140277580	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	979807	140277580	57744850	4521	6667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453248.2_Missense_Mutation_p.E163D|SLC25A36_ENST00000324194.6_Missense_Mutation_p.E189D	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													48	227					3.4345e-17	3.7875e-17	1	1	0	T	140692672	G	T	140692672	3	4	22	1	0	0	0	0	1	0	0	0	14555	933	33	2	589	2	SLC25A36	3	140692672	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	415092	140692672	57329758	4522	6668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	97					0	0	1	0	0	T	140785480	C	T	140785480	2	4	22	1	0	0	0	0	0	0	0	1	15171	871	31	1		1	SPSB4	3	140785480	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92808	140785480	57236950	4523	6669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	183					0	0	1	0	0	T	140785540	C	T	140785540	2	4	22	1	0	0	0	0	0	0	0	1	15171	755	27	1		1	SPSB4	3	140785540	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	140785540	57236890	4524	6670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	245					0	0	1	0	0	T	140785571	C	T	140785571	2	4	22	1	0	0	0	0	0	0	0	1	15171	796	28	2		2	SPSB4	3	140785571	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	140785571	57236859	4525	6671											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	389					1.58458e-29	1.85199e-29	1	1	0	T	141163088	G	T	141163088	3	4	22	1	0	0	0	0	1	0	0	0	17598	942	33	2	1860	2	ZBTB38	3	141163088	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	377517	141163088	56859342	4526	6672											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	325					0	0	1	0	0	A	141163405	G	A	141163405	2	1	22	1	0	0	0	0	0	0	0	1	17598	1103	39	1		1	ZBTB38	3	141163405	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	317	141163405	56859025	4527	6673											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	180					0	0	1	0	0	A	141163589	G	A	141163589	3	1	22	1	0	0	0	0	1	0	0	0	17598	943	33	2	2361	2	ZBTB38	3	141163589	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	184	141163589	56858841	4528	6674	40	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	169					0	0	1	0	0	T	141163596	C	T	141163596	3	4	22	1	0	0	0	0	1	0	0	0	17598	652	23	1	2368	1	ZBTB38	3	141163596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7	141163596	56858834	4529	6675	40	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	244					0	0	1	0	0	C	141291549	A	C	141291549	3	2	22	1	0	0	0	0	1	0	0	0	13113	14	1	3	1314	3	RASA2	3	141291549	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	127953	141291549	56730881	4530	6676											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	271					0	0	1	0	0	T	141497440	C	T	141497440	3	4	22	1	0	0	0	0	1	0	0	0	6835	768	27	1	316	1	GRK7	3	141497440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	205891	141497440	56524990	4531	6677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	217					2.13883e-14	2.32436e-14	1	1	0	T	141499500	G	T	141499500	3	4	22	1	0	0	0	0	1	0	0	0	6835	933	33	2	903	2	GRK7	3	141499500	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2060	141499500	56522930	4532	6678											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	444					0	0	1	0	0	C	141526556	T	C	141526556	3	2	22	1	0	0	0	0	1	0	0	0	6835	1580	55	3	1130	3	GRK7	3	141526556	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27056	141526556	56495874	4533	6679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	355					0.00198382	0.00200138	1	1	0	A	141526658	C	A	141526658	3	1	22	1	0	0	0	0	1	0	0	0	6835	912	32	2	1232	2	GRK7	3	141526658	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102	141526658	56495772	4534	6680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141644374T>C	ENST00000286371.3	+	7	859	c.669_splice	c.e7-1	p.V224_splice	ATP1B3_ENST00000462082.1_Splice_Site_p.V34_splice|ATP1B3_ENST00000539728.1_3'UTR|ATP1B3_ENST00000484727.1_3'UTR	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													131	558					0	0	1	0	0	C	141644374	T	C	141644374	5	2	22	1	0	0	0	0	0	0	1	0	1133	1739	60	3	697	3	ATP1B3	3	141644374	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	117716	141644374	56378056	4535	6681											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	142					0	0	1	0	0	C	142095328	T	C	142095328	3	2	22	1	0	0	0	0	1	0	0	0	17519	1521	53	3	2372	3	XRN1	3	142095328	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	450954	142095328	55927102	4536	6682											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					61	264					0	0	1	0	0	T	142168272	C	T	142168272	2	4	22	1	0	0	0	0	0	0	0	1	1202	837	29	2		2	ATR	3	142168272	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72944	142168272	55854158	4537	6683											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					29	375					0	0	1	0	0	T	142186836	C	T	142186836	2	4	22	1	0	0	0	0	0	0	0	1	1202	912	32	2		2	ATR	3	142186836	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18564	142186836	55835594	4538	6684											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					51	208					0	0	1	0	0	T	142212021	C	T	142212021	3	4	22	1	0	0	0	0	1	0	0	0	1202	864	30	2	1955	2	ATR	3	142212021	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25185	142212021	55810409	4539	6685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					56	279					1.22119e-34	1.45331e-34	1	1	0	T	142232395	G	T	142232395	3	4	22	1	0	0	0	0	1	0	0	0	1202	1348	47	2	3433	2	ATR	3	142232395	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20374	142232395	55790035	4540	6686											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					44	479					0	0	1	0	0	T	142241618	C	T	142241618	2	4	22	1	0	0	0	0	0	0	0	1	1202	523	19	1		1	ATR	3	142241618	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9223	142241618	55780812	4541	6687											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					17	532					0	0	1	0	0	C	142242863	T	C	142242863	3	2	22	1	0	0	0	0	1	0	0	0	1202	1783	62	3	3914	3	ATR	3	142242863	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1245	142242863	55779567	4542	6688											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					72	373					3.78398e-24	4.31794e-24	1	1	0	A	142269047	C	A	142269047	3	1	22	1	0	0	0	0	1	0	0	0	1202	913	32	2	5167	2	ATR	3	142269047	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26184	142269047	55753383	4543	6689											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					85	467					7.7321e-48	9.52824e-48	1	1	0	T	142281779	G	T	142281779	3	4	22	1	0	0	0	0	1	0	0	0	1202	1020	36	2	7645	2	ATR	3	142281779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12732	142281779	55740651	4544	6690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	349					0	0	1	0	0	T	142408575	C	T	142408575	3	4	22	1	0	0	0	0	1	0	0	0	12155	797	28	2	1131	2	PLS1	3	142408575	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126796	142408575	55613855	4545	6691											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	446					0	0	1	0	0	C	142430842	T	C	142430842	3	2	22	1	0	0	0	0	1	0	0	0	12155	1406	49	3	1941	3	PLS1	3	142430842	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22267	142430842	55591588	4546	6692											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	99					1.88708e-17	2.08396e-17	1	1	0	A	142443464	C	A	142443464	2	1	22	1	0	0	0	0	0	0	0	1	16639	668	24	2		2	TRPC1	3	142443464	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12622	142443464	55578966	4547	6693											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													172	648					0	0	1	0	0	T	142467232	C	T	142467232	3	4	22	1	0	0	0	0	1	0	0	0	16639	739	26	2	470	2	TRPC1	3	142467232	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23768	142467232	55555198	4548	6694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	181					0	0	1	0	0	T	142522866	C	T	142522866	3	4	22	1	0	0	0	0	1	0	0	0	16639	768	27	1	1741	1	TRPC1	3	142522866	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55634	142522866	55499564	4549	6695											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	356					0	0	1	0	0	T	142537272	C	T	142537272	3	4	22	1	0	0	0	0	1	0	0	0	11642	913	32	2	98	2	PCOLCE2	3	142537272	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14406	142537272	55485158	4550	6696											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	167					0	0	1	0	0	A	142681742	G	A	142681742	3	1	22	1	0	0	0	0	1	0	0	0	11489	1059	37	1	700	1	PAQR9	3	142681742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144470	142681742	55340688	4551	6697											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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													50	168					0	0	1	0	0	A	142681855	G	A	142681855	2	1	22	1	0	0	0	0	0	0	0	1	11489	1078	38	1		1	PAQR9	3	142681855	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113	142681855	55340575	4552	6698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	57					1.67942e-08	1.75525e-08	1	1	0	T	142840537	G	T	142840537	3	4	22	1	0	0	0	0	1	0	0	0	3426	991	35	2	881	2	CHST2	3	142840537	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158682	142840537	55181893	4553	6699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	243					0	0	1	0	0	G	142840749	A	G	142840749	3	3	22	1	0	0	0	0	1	0	0	0	3426	159	6	3	1093	3	CHST2	3	142840749	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	212	142840749	55181681	4554	6700											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	280					0	0	1	0	0	A	143691407	G	A	143691407	3	1	22	1	0	0	0	0	1	0	0	0	2250	1203	42	2	235	2	C3orf58	3	143691407	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	850658	143691407	54331023	4555	6701											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.A26T|C3orf58_ENST00000495414.1_Missense_Mutation_p.A55T	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													173	751					0	0	1	0	0	A	143704517	G	A	143704517	3	1	22	1	0	0	0	0	1	0	0	0	2250	1087	38	1	830	1	C3orf58	3	143704517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13110	143704517	54317913	4556	6702											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.D49N|C3orf58_ENST00000495414.1_Missense_Mutation_p.D78N	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													82	818					0	0	1	0	0	A	143704586	G	A	143704586	3	1	22	1	0	0	0	0	1	0	0	0	2250	1174	41	2	899	2	C3orf58	3	143704586	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69	143704586	54317844	4557	6703											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Silent_p.E163E|C3orf58_ENST00000495414.1_Silent_p.E192E	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													64	294					0	0	1	0	0	A	143708593	G	A	143708593	2	1	22	1	0	0	0	0	0	0	0	1	2250	1020	36	2		2	C3orf58	3	143708593	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4007	143708593	54313837	4558	6704											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|PLOD2_ENST00000494950.1_Intron|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000282903.5_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													34	145					0	0	1	0	0	C	145803071	A	C	145803071	3	2	22	1	0	0	0	0	1	0	0	0	12150	29	1	3		3	PLOD2	3	145803071	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2094478	145803071	52219359	4559	6705											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446574.2_Missense_Mutation_p.A289T|PLSCR4_ENST00000493382.1_Missense_Mutation_p.A289T|PLSCR4_ENST00000433593.2_Missense_Mutation_p.A184T|PLSCR4_ENST00000383083.2_Missense_Mutation_p.A199T	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													69	341					0	0	1	0	0	T	145912991	C	T	145912991	3	4	22	1	0	0	0	0	1	0	0	0	12160	710	25	2	132	2	PLSCR4	3	145912991	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109920	145912991	52109439	4560	6706											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	407					0	0	1	0	0	G	146173186	A	G	146173186	3	3	22	1	0	0	0	0	1	0	0	0	12158	101	4	3	529	3	PLSCR2	3	146173186	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	260195	146173186	51849244	4561	6707											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473123.1_Missense_Mutation_p.A326V|ZIC4_ENST00000425731.3_Missense_Mutation_p.A364V|ZIC4_ENST00000484399.1_Missense_Mutation_p.A326V|ZIC4_ENST00000491672.1_Missense_Mutation_p.A120V|ZIC4_ENST00000525172.2_Missense_Mutation_p.A376V|ZIC4_ENST00000472749.2_5'UTR	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													31	168					0	0	1	0	0	A	147108745	G	A	147108745	3	1	22	1	0	0	0	0	1	0	0	0	17739	1087	38	1	35	1	ZIC4	3	147108745	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	935559	147108745	50913685	4562	6708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473123.1_Missense_Mutation_p.S317P|ZIC4_ENST00000425731.3_Missense_Mutation_p.S355P|ZIC4_ENST00000484399.1_Missense_Mutation_p.S317P|ZIC4_ENST00000491672.1_Missense_Mutation_p.S111P|ZIC4_ENST00000525172.2_Missense_Mutation_p.S367P|ZIC4_ENST00000472749.2_5'UTR	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													27	232					0	0	1	0	0	G	147108773	A	G	147108773	3	3	22	1	0	0	0	0	1	0	0	0	17739	275	10	3	63	3	ZIC4	3	147108773	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28	147108773	50913657	4563	6709											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473123.1_Silent_p.P292P|ZIC4_ENST00000425731.3_Silent_p.P330P|ZIC4_ENST00000484399.1_Silent_p.P292P|ZIC4_ENST00000491672.1_Silent_p.P86P|ZIC4_ENST00000525172.2_Silent_p.P342P|ZIC4_ENST00000472749.2_5'UTR	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													60	267					0	0	1	0	0	T	147108846	C	T	147108846	2	4	22	1	0	0	0	0	0	0	0	1	17739	755	27	1		1	ZIC4	3	147108846	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73	147108846	50913584	4564	6710											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473123.1_Silent_p.C271C|ZIC4_ENST00000425731.3_Silent_p.C309C|ZIC4_ENST00000484399.1_Silent_p.C271C|ZIC4_ENST00000491672.1_Silent_p.C65C|ZIC4_ENST00000525172.2_Silent_p.C321C|ZIC4_ENST00000472749.2_5'UTR	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													52	208					0	0	1	0	0	A	147108909	G	A	147108909	2	1	22	1	0	0	0	0	0	0	0	1	17739	1079	38	1		1	ZIC4	3	147108909	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63	147108909	50913521	4565	6711											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000425731.3_Missense_Mutation_p.A153T|ZIC4_ENST00000484399.1_Missense_Mutation_p.A115T|ZIC4_ENST00000491672.1_Intron|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													66	233					0	0	1	0	0	T	147113984	C	T	147113984	3	4	22	1	0	0	0	0	1	0	0	0	17739	768	27	1	673	1	ZIC4	3	147113984	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5075	147113984	50908446	4566	6712											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000425731.3_Missense_Mutation_p.G137E|ZIC4_ENST00000484399.1_Missense_Mutation_p.G99E|ZIC4_ENST00000491672.1_Intron|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													46	158					0	0	1	0	0	T	147114031	C	T	147114031	3	4	22	1	0	0	0	0	1	0	0	0	17739	623	22	2	720	2	ZIC4	3	147114031	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47	147114031	50908399	4567	6713											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000425731.3_Missense_Mutation_p.A111T|ZIC4_ENST00000484399.1_Missense_Mutation_p.A73T|ZIC4_ENST00000491672.1_Intron|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													28	104					0	0	1	0	0	T	147114110	C	T	147114110	3	4	22	1	0	0	0	0	1	0	0	0	17739	768	27	1	799	1	ZIC4	3	147114110	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79	147114110	50908320	4568	6714											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	202					0	0	1	0	0	A	147128517	G	A	147128517	2	1	22	1	0	0	0	0	0	0	0	1	17736	1074	38	1		1	ZIC1	3	147128517	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14407	147128517	50893913	4569	6715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	196					0	0	1	0	0	A	147128543	G	A	147128543	3	1	22	1	0	0	0	0	1	0	0	0	17736	1087	38	1	646	1	ZIC1	3	147128543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26	147128543	50893887	4570	6716											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	523					0	0	1	0	0	T	147128793	C	T	147128793	2	4	22	1	0	0	0	0	0	0	0	1	17736	755	27	1		1	ZIC1	3	147128793	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	250	147128793	50893637	4571	6717											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	453					0	0	1	0	0	A	147131179	G	A	147131179	2	1	22	1	0	0	0	0	0	0	0	1	17736	1103	39	1		1	ZIC1	3	147131179	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2386	147131179	50891251	4572	6718											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	407					0	0	1	0	0	A	147131305	G	A	147131305	2	1	22	1	0	0	0	0	0	0	0	1	17736	1074	38	1		1	ZIC1	3	147131305	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126	147131305	50891125	4573	6719											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498639.1_3'UTR|RP11-680B3.2_ENST00000488190.1_RNA|CPB1_ENST00000282957.4_Missense_Mutation_p.A339D			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													37	208					2.95478e-19	3.29235e-19	1	1	0	A	148575278	C	A	148575278	3	1	22	1	0	0	0	0	1	0	0	0	3819	739	26	2	1054	2	CPB1	3	148575278	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1443973	148575278	49447152	4574	6720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				56	289					0	0	1	0	0	G	148868428	A	G	148868428	2	3	22	1	0	0	0	0	0	0	0	1	7381	175	7	3		3	HPS3	3	148868428	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	293150	148868428	49154002	4575	6721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				104	373					0	0	1	0	0	G	148880586	A	G	148880586	3	3	22	1	0	0	0	0	1	0	0	0	7381	14	1	3	2452	3	HPS3	3	148880586	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12158	148880586	49141844	4576	6722											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000087.1	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													91	402					0	0	1	0	0	G	148895751	A	G	148895751	3	3	22	1	0	0	0	0	1	0	0	0	3810	217	8	3	315	3	CP	3	148895751	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15165	148895751	49126679	4577	6723											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000087.1	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													42	234					1.48734e-19	1.65976e-19	1	1	0	A	148925405	C	A	148925405	5	1	22	1	0	0	0	0	0	0	1	0	3810	811	28	2	2476	2	CP	3	148925405	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29654	148925405	49097025	4578	6724											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000087.1	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													70	280					0	0	1	0	0	G	148939510	A	G	148939510	3	3	22	1	0	0	0	0	1	0	0	0	3810	362	13	3	3203	3	CP	3	148939510	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14105	148939510	49082920	4579	6725											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-206M11.7_ENST00000489011.1_RNA|TM4SF18_ENST00000470080.1_Missense_Mutation_p.G100R	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													38	165					0	0	1	0	0	T	149042779	C	T	149042779	3	4	22	1	0	0	0	0	1	0	0	0	16027	661	23	1	319	1	TM4SF18	3	149042779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103269	149042779	48979651	4580	6726											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360632.3_Missense_Mutation_p.S290F|WWTR1_ENST00000467467.1_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								34	1045					0	0	1	0	0	A	149245659	G	A	149245659	3	1	22	1	0	0	0	0	1	0	0	0	17477	1174	41	2	345	2	WWTR1	3	149245659	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	202880	149245659	48776771	4581	6727											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360632.3_Missense_Mutation_p.A136T|WWTR1_ENST00000467467.1_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								17	189					0	0	1	0	0	T	149374688	C	T	149374688	3	4	22	1	0	0	0	0	1	0	0	0	17477	739	26	2	820	2	WWTR1	3	149374688	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129029	149374688	48647742	4582	6728											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	166					0	0	1	0	0	A	149589892	G	A	149589892	3	1	22	1	0	0	0	0	1	0	0	0	13489	1203	42	2	282	2	RNF13	3	149589892	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215204	149589892	48432538	4583	6729											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	389					0	0	1	0	0	G	150403768	A	G	150403768	2	3	22	1	0	0	0	0	0	0	0	1	5558	10	1	3		3	FAM194A	3	150403768	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	813876	150403768	47618662	4584	6730											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	253					0	0	1	0	0	A	150460089	G	A	150460089	3	1	22	1	0	0	0	0	1	0	0	0	14355	1086	38	1	164	1	SIAH2	3	150460089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56321	150460089	47562341	4585	6731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	278					0	0	1	0	0	A	150460414	G	A	150460414	2	1	22	1	0	0	0	0	0	0	0	1	14355	1256	44	2		2	SIAH2	3	150460414	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	325	150460414	47562016	4586	6732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000295911.2_Silent_p.T104T|RP11-166N6.3_ENST00000569170.1_Intron|CLRN1_ENST00000328863.4_Silent_p.T193T	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													54	220					0	0	1	0	0	T	150645882	C	T	150645882	2	4	22	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	4587	6733											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Missense_Mutation_p.S303P	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													203	846					0	0	1	0	0	C	150877688	T	C	150877688	3	2	22	1	0	0	0	0	1	0	0	0	9479	1783	62	3	933	3	MED12L	3	150877688	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	231806	150877688	47144742	4588	6734											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Nonsense_Mutation_p.G323*	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													184	837					9.35327e-79	1.19482e-78	1	1	0	T	150877748	G	T	150877748	4	4	22	1	0	0	0	0	0	1	0	0	9479	1001	35	2	993	2	MED12L	3	150877748	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	150877748	47144682	4589	6735											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Missense_Mutation_p.G394C	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													9	330					5.4927e-09	5.7613e-09	1	1	0	T	150881752	G	T	150881752	3	4	22	1	0	0	0	0	1	0	0	0	9479	1000	35	2	1210	2	MED12L	3	150881752	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4004	150881752	47140678	4590	6736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000273432.4_Silent_p.T368T|MED12L_ENST00000422248.2_Silent_p.T508T	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													66	284					0	0	1	0	0	A	150903146	G	A	150903146	2	1	22	1	0	0	0	0	0	0	0	1	9479	1074	38	1		1	MED12L	3	150903146	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21394	150903146	47119284	4591	6737											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	284					0	0	1	0	0	C	150916725	A	C	150916725	3	2	22	1	0	0	0	0	1	0	0	0	6708	217	8	3	514	3	GPR171	3	150916725	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13579	150916725	47105705	4592	6738											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.R233H	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													108	437					0	0	1	0	0	T	150931407	C	T	150931407	3	4	22	1	0	0	0	0	1	0	0	0	11398	768	27	1	322	1	P2RY14	3	150931407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14682	150931407	47091023	4593	6739											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.I37T	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													14	574					0	0	1	0	0	G	150931995	A	G	150931995	3	3	22	1	0	0	0	0	1	0	0	0	11398	333	12	3	910	3	P2RY14	3	150931995	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	588	150931995	47090435	4594	6740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_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													67	292					0	0	1	0	0	A	151012762	G	A	151012762	3	1	22	1	0	0	0	0	1	0	0	0	6756	1145	40	1	808	1	GPR87	3	151012762	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80767	151012762	47009668	4595	6741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_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													55	243					0	0	1	0	0	C	151046196	A	C	151046196	3	2	22	1	0	0	0	0	1	0	0	0	11397	10	1	3	420	3	P2RY13	3	151046196	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33434	151046196	46976234	4596	6742											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_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													79	373					0	0	1	0	0	T	151046509	C	T	151046509	3	4	22	1	0	0	0	0	1	0	0	0	11397	913	32	2	733	2	P2RY13	3	151046509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	313	151046509	46975921	4597	6743											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	152					0	0	1	0	0	T	151100468	C	T	151100468	4	4	22	1	0	0	0	0	0	1	0	0	9479	528	19	1	4632	1	MED12L	3	151100468	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53959	151100468	46921962	4598	6744											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	409					0	0	1	0	0	T	151129262	C	T	151129262	3	4	22	1	0	0	0	0	1	0	0	0	9479	893	31	1	6156	1	MED12L	3	151129262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28794	151129262	46893168	4599	6745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MED12L_ENST00000474524.1_3'UTR|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	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													122	589					0	0	1	0	0	T	151154517	A	T	151154517	3	4	22	1	0	0	0	0	1	0	0	0	7641	72	3	5	43	5	IGSF10	3	151154517	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25255	151154517	46867913	4600	6746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	387					0	0	1	0	0	T	151155762	C	T	151155762	3	4	22	1	0	0	0	0	1	0	0	0	7641	623	22	2	1288	2	IGSF10	3	151155762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1245	151155762	46866668	4601	6747											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													153	744					0	0	1	0	0	T	151163109	C	T	151163109	3	4	22	1	0	0	0	0	1	0	0	0	7641	797	28	2	3271	2	IGSF10	3	151163109	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7347	151163109	46859321	4602	6748											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	232					0	0	1	0	0	A	151165609	G	A	151165609	2	1	22	1	0	0	0	0	0	0	0	1	7641	1020	36	2		2	IGSF10	3	151165609	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2500	151165609	46856821	4603	6749											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	527					0	0	1	0	0	G	151166366	A	G	151166366	3	3	22	1	0	0	0	0	1	0	0	0	7641	159	6	3	6528	3	IGSF10	3	151166366	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	757	151166366	46856064	4604	6750											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	180					0	0	1	0	0	G	151451884	A	G	151451884	3	3	22	1	0	0	0	0	1	0	0	0	11	159	6	3	63	3	AADACL2	3	151451884	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	285518	151451884	46570546	4605	6751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	341					0	0	1	0	0	A	151458616	G	A	151458616	2	1	22	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	4606	6752											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151463297C>T	ENST00000356517.3	+	4	541	c.431_splice	c.e4-1	p.D144_splice		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													23	1205					0	0	1	0	0	T	151463297	C	T	151463297	5	4	22	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	4607	6753											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	355					0	0	1	0	0	A	151475275	G	A	151475275	3	1	22	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	4608	6754											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151598717G>A	ENST00000362032.4	+	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	129						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													111	411					0	0	1	0	0	A	151598717	G	A	151598717	3	1	22	1	0	0	0	0	1	0	0	0	15422	1058	37	1	392	1	SUCNR1	3	151598717	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123442	151598717	46423713	4609	6755											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000485910.1_Intron|MBNL1_ENST00000324196.5_Missense_Mutation_p.A132T|MBNL1_ENST00000485509.1_Missense_Mutation_p.A132T|MBNL1_ENST00000492948.1_Missense_Mutation_p.A132T|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000493459.1_Missense_Mutation_p.A75T|MBNL1_ENST00000498502.1_Missense_Mutation_p.A132T|MBNL1_ENST00000355460.2_Missense_Mutation_p.A132T|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000463374.1_Missense_Mutation_p.A132T|MBNL1_ENST00000324210.5_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													258	869					0	0	1	0	0	A	152150554	G	A	152150554	3	1	22	1	0	0	0	0	1	0	0	0	9403	1087	38	1	404	1	MBNL1	3	152150554	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	551837	152150554	45871876	4610	6756											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	342					3.00167e-28	3.48911e-28	1	1	0	A	152554367	C	A	152554367	3	1	22	1	0	0	0	0	1	0	0	0	11393	564	20	2	798	2	P2RY1	3	152554367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	403813	152554367	45468063	4611	6757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	390					1.91123e-38	2.30379e-38	1	1	0	T	152554451	G	T	152554451	3	4	22	1	0	0	0	0	1	0	0	0	11393	971	34	2	882	2	P2RY1	3	152554451	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84	152554451	45467979	4612	6758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	157					8.4185e-14	9.11178e-14	1	1	0	T	152880895	G	T	152880895	3	4	22	1	0	0	0	0	1	0	0	0	13093	1357	47	2	415	2	RAP2B	3	152880895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	326444	152880895	45141535	4613	6759											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	316					4.29146e-36	5.13238e-36	1	1	0	A	153220229	C	A	153220229	2	1	22	1	0	0	0	0	0	0	0	1	2261	784	28	2		2	C3orf79	3	153220229	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	339334	153220229	44802201	4614	6760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000308361.6_Missense_Mutation_p.L857F|DHX36_ENST00000544526.1_Missense_Mutation_p.L872F|DHX36_ENST00000329463.5_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													24	130					0	0	1	0	0	A	153995419	G	A	153995419	3	1	22	1	0	0	0	0	1	0	0	0	4537	971	34	2	382	2	DHX36	3	153995419	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	775190	153995419	44027011	4615	6761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000308361.6_Missense_Mutation_p.R695Q|DHX36_ENST00000544526.1_Missense_Mutation_p.R681Q|DHX36_ENST00000329463.5_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													78	367					0	0	1	0	0	T	154002724	C	T	154002724	3	4	22	1	0	0	0	0	1	0	0	0	4537	884	31	1	974	1	DHX36	3	154002724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7305	154002724	44019706	4616	6762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													207	978					0	0	1	0	0	A	154055600	G	A	154055600	3	1	22	1	0	0	0	0	1	0	0	0	6694	1319	46	2	115	2	GPR149	3	154055600	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52876	154055600	43966830	4617	6763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	304					0	0	1	0	0	G	154146651	A	G	154146651	3	3	22	1	0	0	0	0	1	0	0	0	6694	275	10	3	1457	3	GPR149	3	154146651	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	91051	154146651	43875779	4618	6764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360490.2_Missense_Mutation_p.D82Y|MME_ENST00000493237.1_Missense_Mutation_p.D82Y|MME_ENST00000492661.1_Missense_Mutation_p.D82Y|MME_ENST00000462745.1_Missense_Mutation_p.D82Y|MME_ENST00000477669.1_3'UTR	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													42	558					6.5261e-18	7.22248e-18	1	1	0	T	154832830	G	T	154832830	3	4	22	1	0	0	0	0	1	0	0	0	9693	942	33	2	254	2	MME	3	154832830	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	686179	154832830	43189600	4619	6765											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360490.2_Missense_Mutation_p.Y195C|MME_ENST00000493237.1_Missense_Mutation_p.Y195C|MME_ENST00000492661.1_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													41	225					0	0	1	0	0	G	154834705	A	G	154834705	3	3	22	1	0	0	0	0	1	0	0	0	9693	449	16	3	606	3	MME	3	154834705	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1875	154834705	43187725	4620	6766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340059.7_Silent_p.L1693L|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Silent_p.L1655L|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													38	236					0	0	1	0	0	A	155198762	G	A	155198762	2	1	22	1	0	0	0	0	0	0	0	1	12085	1020	36	2		2	PLCH1	3	155198762	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	364057	155198762	42823668	4621	6767											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340059.7_Missense_Mutation_p.D1467Y|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1429Y|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													10	412					0.000673444	0.000681208	1	1	0	A	155199440	C	A	155199440	3	1	22	1	0	0	0	0	1	0	0	0	12085	913	32	2	686	2	PLCH1	3	155199440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	678	155199440	42822990	4622	6768											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340059.7_Nonsense_Mutation_p.R546*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.R546*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.R528*|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													27	144					0	0	1	0	0	A	155222376	G	A	155222376	4	1	22	1	0	0	0	0	0	1	0	0	12085	1153	40	1	3508	1	PLCH1	3	155222376	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22936	155222376	42800054	4623	6769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340059.7_Missense_Mutation_p.N248S|PLCH1_ENST00000494598.1_Missense_Mutation_p.N248S|PLCH1_ENST00000414191.1_Missense_Mutation_p.N230S|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													5	89					0	0	1	0	0	C	155286106	T	C	155286106	3	2	22	1	0	0	0	0	1	0	0	0	12085	1493	52	3	4425	3	PLCH1	3	155286106	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63730	155286106	42736324	4624	6770											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	152					3.5997e-14	3.90403e-14	1	1	0	A	155481469	C	A	155481469	3	1	22	1	0	0	0	0	1	0	0	0	2237	565	20	2	166	2	C3orf33	3	155481469	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195363	155481469	42540961	4625	6771											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000486483.1_Missense_Mutation_p.M383I|TIPARP_ENST00000295924.7_Missense_Mutation_p.M383I|TIPARP_ENST00000542783.1_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													100	393					0	0	1	0	0	A	156413716	G	A	156413716	3	1	22	1	0	0	0	0	1	0	0	0	15984	1377	48	2	1159	2	TIPARP	3	156413716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	932247	156413716	41608714	4626	6772											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000486483.1_Silent_p.Q464Q|TIPARP_ENST00000295924.7_Silent_p.Q464Q|TIPARP_ENST00000542783.1_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													39	397					0	0	1	0	0	G	156421357	A	G	156421357	2	3	22	1	0	0	0	0	0	0	0	1	15984	69	3	3		3	TIPARP	3	156421357	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7641	156421357	41601073	4627	6773											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000486483.1_Silent_p.V551V|TIPARP_ENST00000295924.7_Silent_p.V551V|TIPARP_ENST00000542783.1_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													167	870					1.42649e-92	1.83228e-92	1	1	0	A	156422599	C	A	156422599	2	1	22	1	0	0	0	0	0	0	0	1	15984	900	32	2		2	TIPARP	3	156422599	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1242	156422599	41599831	4628	6774											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													155	775					0	0	1	0	0	A	156866190	G	A	156866190	3	1	22	1	0	0	0	0	1	0	0	0	2953	942	33	2	163	2	CCNL1	3	156866190	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	443591	156866190	41156240	4629	6775											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.R582G|VEPH1_ENST00000543418.1_Missense_Mutation_p.R582G|VEPH1_ENST00000392832.2_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													22	364					0	0	1	0	0	C	157034982	T	C	157034982	3	2	22	1	0	0	0	0	1	0	0	0	17214	1559	54	3	777	3	VEPH1	3	157034982	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	168792	157034982	40987448	4630	6776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.D573G|VEPH1_ENST00000543418.1_Missense_Mutation_p.D573G|VEPH1_ENST00000392832.2_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													175	703					0	0	1	0	0	C	157081170	T	C	157081170	3	2	22	1	0	0	0	0	1	0	0	0	17214	1435	50	3	807	3	VEPH1	3	157081170	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46188	157081170	40941260	4631	6777											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Silent_p.G343G|VEPH1_ENST00000543418.1_Silent_p.G343G|VEPH1_ENST00000392832.2_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													121	501					0	0	1	0	0	A	157099043	G	A	157099043	2	1	22	1	0	0	0	0	0	0	0	1	17214	1190	42	2		2	VEPH1	3	157099043	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17873	157099043	40923387	4632	6778											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543418.1_Missense_Mutation_p.D252G|VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000392832.2_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													47	207					0	0	1	0	0	C	157131821	T	C	157131821	3	2	22	1	0	0	0	0	1	0	0	0	17214	1667	58	3	1782	3	VEPH1	3	157131821	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32778	157131821	40890609	4633	6779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543418.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000392832.2_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000468233.1_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													29	187					0	0	1	0	0	A	157188105	G	A	157188105	4	1	22	1	0	0	0	0	0	1	0	0	17214	1386	48	2	2319	2	VEPH1	3	157188105	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56284	157188105	40834325	4634	6780											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000483851.2_Silent_p.H255H|SHOX2_ENST00000389589.4_Silent_p.H291H|SHOX2_ENST00000441443.2_Silent_p.H126H|SHOX2_ENST00000425436.3_Silent_p.H267H			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													128	608					0	0	1	0	0	A	157816011	G	A	157816011	2	1	22	1	0	0	0	0	0	0	0	1	14344	1252	44	2		2	SHOX2	3	157816011	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	627906	157816011	40206419	4635	6781											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157823784C>A	ENST00000480820.1	+	0	141				SHOX2_ENST00000483851.2_Missense_Mutation_p.K10N|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000389589.4_Missense_Mutation_p.K10N|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000425436.3_Missense_Mutation_p.K10N			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													72	291					8.92729e-27	1.0308e-26	1	1	0	A	157823784	C	A	157823784	1	1	22	1	0	0	0	0	0	0	0	0	13766	564	20	2		2	RSRC1	3	157823784	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7773	157823784	40198646	4636	6782											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000484955.1_Missense_Mutation_p.V85F|MLF1_ENST00000482628.1_Missense_Mutation_p.V85F|MLF1_ENST00000478894.2_Missense_Mutation_p.V100F|MLF1_ENST00000471745.1_Missense_Mutation_p.V100F|MLF1_ENST00000469452.1_Intron|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000355893.5_Missense_Mutation_p.V110F|MLF1_ENST00000392822.3_Missense_Mutation_p.V141F	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								9	370					0.000442599	0.000448314	1	1	0	T	158315917	G	T	158315917	3	4	22	1	0	0	0	0	1	0	0	0	9662	1029	36	2	342	2	MLF1	3	158315917	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	492133	158315917	39706513	4637	6783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000478576.1_Missense_Mutation_p.Y165C|GFM1_ENST00000264263.5_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													7	248					0	0	1	0	0	G	158364658	A	G	158364658	3	3	22	1	0	0	0	0	1	0	0	0	6383	391	14	3	508	3	GFM1	3	158364658	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48741	158364658	39657772	4638	6784											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000478576.1_Missense_Mutation_p.G554C|GFM1_ENST00000264263.5_Missense_Mutation_p.G573C	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													8	200					7.48243e-07	7.73841e-07	1	1	0	T	158399842	G	T	158399842	3	4	22	1	0	0	0	0	1	0	0	0	6383	1000	35	2	1714	2	GFM1	3	158399842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35184	158399842	39622588	4639	6785											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	IFT80_ENST00000483465.1_Missense_Mutation_p.R116H|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R424H|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													89	445					0	0	1	0	0	T	160073820	C	T	160073820	3	4	22	1	0	0	0	0	1	0	0	0	7608	768	27	1	1627	1	IFT80	3	160073820	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1673978	160073820	37948610	4640	6786											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	IFT80_ENST00000483465.1_Missense_Mutation_p.D103N|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.D411N|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													22	418					0	0	1	0	0	T	160073860	C	T	160073860	3	4	22	1	0	0	0	0	1	0	0	0	7608	913	32	2	1667	2	IFT80	3	160073860	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40	160073860	37948570	4641	6787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SMC4_ENST00000360111.2_Missense_Mutation_p.P993H|SMC4_ENST00000344722.5_Missense_Mutation_p.P1051H|SMC4_ENST00000469762.1_Missense_Mutation_p.P1026H|SMC4_ENST00000462787.1_Missense_Mutation_p.P993H|RP11-432B6.3_ENST00000483754.1_Intron	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													43	215					1.32136e-16	1.45297e-16	1	1	0	A	160149468	C	A	160149468	3	1	22	1	0	0	0	0	1	0	0	0	14839	681	24	2	3230	2	SMC4	3	160149468	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75608	160149468	37872962	4642	6788											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TRIM59_ENST00000309784.4_Missense_Mutation_p.R258H|RP11-432B6.3_ENST00000483754.1_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													116	524					0	0	1	0	0	T	160156199	C	T	160156199	3	4	22	1	0	0	0	0	1	0	0	0	16593	768	27	1	442	1	TRIM59	3	160156199	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6731	160156199	37866231	4643	6789											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TRIM59_ENST00000309784.4_Missense_Mutation_p.A40S|RP11-432B6.3_ENST00000483754.1_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													15	415					3.45872e-05	3.53336e-05	1	1	0	A	160156854	C	A	160156854	3	1	22	1	0	0	0	0	1	0	0	0	16593	739	26	2	1097	2	TRIM59	3	160156854	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	655	160156854	37865576	4644	6790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	354					0	0	1	0	0	G	160474238	A	G	160474238	3	3	22	1	0	0	0	0	1	0	0	0	12393	217	8	3	144	3	PPM1L	3	160474238	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	317384	160474238	37548192	4645	6791											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000472947.1_Missense_Mutation_p.A155V|NMD3_ENST00000351193.2_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													101	530					0	0	1	0	0	T	160952621	C	T	160952621	3	4	22	1	0	0	0	0	1	0	0	0	10535	797	28	2	482	2	NMD3	3	160952621	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	478383	160952621	37069809	4646	6792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			34	233					1.57351e-24	1.79979e-24	1	1	0	A	164735356	C	A	164735356	3	1	22	1	0	0	0	0	1	0	0	0	14352	507	18	2	1816	2	SI	3	164735356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3782735	164735356	33287074	4647	6793	41	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			28	228					0	0	1	0	0	A	164735363	G	A	164735363	2	1	22	1	0	0	0	0	0	0	0	1	14352	1136	40	1		1	SI	3	164735363	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7	164735363	33287067	4648	6794	41	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			73	346					0	0	1	0	0	A	164748559	G	A	164748559	3	1	22	1	0	0	0	0	1	0	0	0	14352	1174	41	2	2746	2	SI	3	164748559	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13196	164748559	33273871	4649	6795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			74	293					3.27973e-32	3.87147e-32	1	1	0	T	164906516	G	T	164906516	2	4	22	1	0	0	0	0	0	0	0	1	14798	1164	41	2		2	SLITRK3	3	164906516	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157957	164906516	33115914	4650	6796											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			57	271					0	0	1	0	0	A	164906549	G	A	164906549	2	1	22	1	0	0	0	0	0	0	0	1	14798	1310	46	2		2	SLITRK3	3	164906549	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33	164906549	33115881	4651	6797											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			47	196					0	0	1	0	0	T	164906811	C	T	164906811	3	4	22	1	0	0	0	0	1	0	0	0	14798	768	27	1	1129	1	SLITRK3	3	164906811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262	164906811	33115619	4652	6798											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	97					0	0	1	0	0	T	165491178	C	T	165491178	3	4	22	1	0	0	0	0	1	0	0	0	1356	623	22	2	11	2	BCHE	3	165491178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	584367	165491178	32531252	4653	6799											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	177					0	0	1	0	0	T	165504015	C	T	165504015	2	4	22	1	0	0	0	0	0	0	0	1	1356	564	20	2		2	BCHE	3	165504015	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12837	165504015	32518415	4654	6800											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	511					0	0	1	0	0	C	165547486	A	C	165547486	3	2	22	1	0	0	0	0	1	0	0	0	1356	14	1	3	484	3	BCHE	3	165547486	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	43471	165547486	32474944	4655	6801											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167031904A>C	ENST00000392766.2	-	16	1615	c.1274_splice	c.e16-1	p.S425_splice	ZBBX_ENST00000392764.1_Splice_Site_p.S396_splice|ZBBX_ENST00000392767.2_Splice_Site_p.S425_splice|ZBBX_ENST00000307529.5_Splice_Site_p.S425_splice|ZBBX_ENST00000455345.2_Splice_Site_p.S425_splice	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													46	221					0	0	1	0	0	C	167031904	A	C	167031904	5	2	22	1	0	0	0	0	0	0	1	0	17576	57	2	3	1151	3	ZBBX	3	167031904	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1484418	167031904	30990526	4656	6802											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392764.1_Missense_Mutation_p.L73M|ZBBX_ENST00000392767.2_Missense_Mutation_p.L102M|ZBBX_ENST00000307529.5_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													21	121					9.57634e-11	1.01752e-10	1	1	0	T	167078481	G	T	167078481	3	4	22	1	0	0	0	0	1	0	0	0	17576	962	34	2	2158	2	ZBBX	3	167078481	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46577	167078481	30943949	4657	6803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461846.1_Missense_Mutation_p.D401Y|SERPINI2_ENST00000471111.1_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													11	97					2.27111e-07	2.35674e-07	1	1	0	A	167159914	C	A	167159914	3	1	22	1	0	0	0	0	1	0	0	0	14173	913	32	2	20	2	SERPINI2	3	167159914	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81433	167159914	30862516	4658	6804											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.R497Q|WDR49_ENST00000476376.1_Missense_Mutation_p.R258Q	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													54	224					0	0	1	0	0	T	167246892	C	T	167246892	3	4	22	1	0	0	0	0	1	0	0	0	17362	884	31	1	819	1	WDR49	3	167246892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86978	167246892	30775538	4659	6805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479765.1_Silent_p.L429L|WDR49_ENST00000453925.2_Silent_p.L141L	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													39	165					3.33393e-15	3.63836e-15	1	1	0	T	167293928	G	T	167293928	2	4	22	1	0	0	0	0	0	0	0	1	17362	929	33	2		2	WDR49	3	167293928	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47036	167293928	30728502	4660	6806											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	357					0	0	1	0	0	T	167508215	C	T	167508215	2	4	22	1	0	0	0	0	0	0	0	1	14172	738	26	2		2	SERPINI1	3	167508215	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	214287	167508215	30514215	4661	6807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	232					3.94896e-32	4.66014e-32	1	1	0	A	167747014	C	A	167747014	4	1	22	1	0	0	0	0	0	1	0	0	6605	690	24	2	604	2	GOLIM4	3	167747014	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	238799	167747014	30275416	4662	6808											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000472280.1_Missense_Mutation_p.P1000T|MECOM_ENST00000392736.3_Missense_Mutation_p.P999T|MECOM_ENST00000468789.1_Missense_Mutation_p.P999T|MECOM_ENST00000264674.3_Missense_Mutation_p.P1064T|MECOM_ENST00000460814.1_Missense_Mutation_p.P990T|MECOM_ENST00000433243.2_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													63	386					6.5469e-37	7.85029e-37	1	1	0	T	168806814	G	T	168806814	3	4	22	1	0	0	0	0	1	0	0	0	9472	1203	42	2	168	2	MECOM	3	168806814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1059800	168806814	29215616	4663	6809											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000472280.1_Missense_Mutation_p.A936T|MECOM_ENST00000392736.3_Missense_Mutation_p.A935T|MECOM_ENST00000468789.1_Missense_Mutation_p.A935T|MECOM_ENST00000264674.3_Missense_Mutation_p.A1000T|MECOM_ENST00000460814.1_Missense_Mutation_p.A926T|MECOM_ENST00000433243.2_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													106	512					0	0	1	0	0	T	168807822	C	T	168807822	3	4	22	1	0	0	0	0	1	0	0	0	9472	710	25	2	364	2	MECOM	3	168807822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1008	168807822	29214608	4664	6810											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000472280.1_Missense_Mutation_p.P719S|MECOM_ENST00000392736.3_Missense_Mutation_p.P718S|MECOM_ENST00000468789.1_Missense_Mutation_p.P718S|MECOM_ENST00000264674.3_Missense_Mutation_p.P783S|MECOM_ENST00000460814.1_Missense_Mutation_p.P709S|MECOM_ENST00000433243.2_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													34	206					0	0	1	0	0	A	168819903	G	A	168819903	3	1	22	1	0	0	0	0	1	0	0	0	9472	1174	41	2	1031	2	MECOM	3	168819903	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12081	168819903	29202527	4665	6811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000472280.1_Missense_Mutation_p.A596D|MECOM_ENST00000392736.3_Missense_Mutation_p.A595D|MECOM_ENST00000468789.1_Missense_Mutation_p.A595D|MECOM_ENST00000264674.3_Missense_Mutation_p.A660D|MECOM_ENST00000460814.1_Missense_Mutation_p.A595D|MECOM_ENST00000433243.2_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													74	273					1.43987e-31	1.69592e-31	1	1	0	T	168833312	G	T	168833312	3	4	22	1	0	0	0	0	1	0	0	0	9472	1203	42	2	1411	2	MECOM	3	168833312	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13409	168833312	29189118	4666	6812											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000472280.1_Missense_Mutation_p.V364I|MECOM_ENST00000392736.3_Missense_Mutation_p.V363I|MECOM_ENST00000468789.1_Missense_Mutation_p.V363I|MECOM_ENST00000264674.3_Missense_Mutation_p.V428I|MECOM_ENST00000460814.1_Missense_Mutation_p.V363I|MECOM_ENST00000433243.2_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													88	349					0	0	1	0	0	T	168834009	C	T	168834009	3	4	22	1	0	0	0	0	1	0	0	0	9472	478	17	2	2108	2	MECOM	3	168834009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	697	168834009	29188421	4667	6813											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	64					0	0	1	0	0	T	169381144	C	T	169381144	3	4	22	1	0	0	0	0	1	0	0	0	9472	681	24	2	3780	2	MECOM	3	169381144	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	547135	169381144	28641286	4668	6814											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544106.1_Missense_Mutation_p.V158A|MYNN_ENST00000392733.1_Missense_Mutation_p.V158A|MYNN_ENST00000356716.4_Missense_Mutation_p.V158A|RP11-362K14.5_ENST00000602342.1_RNA	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													9	208					0	0	1	0	0	C	169496762	T	C	169496762	3	2	22	1	0	0	0	0	1	0	0	0	10109	1638	57	3	479	3	MYNN	3	169496762	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	115618	169496762	28525668	4669	6815											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	188					0	0	1	0	0	A	169540472	G	A	169540472	3	1	22	1	0	0	0	0	1	0	0	0	9076	1059	37	1	765	1	LRRIQ4	3	169540472	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43710	169540472	28481958	4670	6816											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	113					2.37509e-13	2.56396e-13	1	1	0	A	169548369	C	A	169548369	4	1	22	1	0	0	0	0	0	1	0	0	9076	747	26	2	1294	2	LRRIQ4	3	169548369	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7897	169548369	28474061	4671	6817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169846869A>C	ENST00000494943.1	-	8	1423	c.1355T>G	c.(1354-1356)cTt>cGt	p.L452R	PHC3_ENST00000467570.1_Missense_Mutation_p.L411R|PHC3_ENST00000495893.1_Missense_Mutation_p.L464R			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	452	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													27	88					0	0	1	0	0	C	169846869	A	C	169846869	3	2	22	1	0	0	0	0	1	0	0	0	11866	72	3	3	1628	3	PHC3	3	169846869	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	298500	169846869	28175561	4672	6818											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169890386G>A	ENST00000494943.1	-	3	327	c.259C>T	c.(259-261)Cat>Tat	p.H87Y	PHC3_ENST00000474275.1_Missense_Mutation_p.H83Y|PHC3_ENST00000495893.1_Missense_Mutation_p.H99Y|PHC3_ENST00000467570.1_Missense_Mutation_p.H99Y|PHC3_ENST00000497658.1_Missense_Mutation_p.H99Y|PHC3_ENST00000481639.1_Missense_Mutation_p.H95Y			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	87					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													71	250					0	0	1	0	0	A	169890386	G	A	169890386	3	1	22	1	0	0	0	0	1	0	0	0	11866	1319	46	2	2744	2	PHC3	3	169890386	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43517	169890386	28132044	4673	6819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	378					0	0	1	0	0	A	169988246	G	A	169988246	3	1	22	1	0	0	0	0	1	0	0	0	12566	1174	41	2	510	2	PRKCI	3	169988246	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97860	169988246	28034184	4674	6820											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	252					0	0	1	0	0	A	170002313	G	A	170002313	3	1	22	1	0	0	0	0	1	0	0	0	12566	942	33	2	1178	2	PRKCI	3	170002313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14067	170002313	28020117	4675	6821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	163					0	0	1	0	0	C	170009678	T	C	170009678	3	2	22	1	0	0	0	0	1	0	0	0	12566	1580	55	3	1290	3	PRKCI	3	170009678	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7365	170009678	28012752	4676	6822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000259119.4_Silent_p.P515P|SKIL_ENST00000413427.2_Silent_p.P469P|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													18	482					0	0	1	0	0	A	170108126	G	A	170108126	2	1	22	1	0	0	0	0	0	0	0	1	14413	1074	38	1		1	SKIL	3	170108126	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98448	170108126	27914304	4677	6823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	45					0.00198382	0.00200138	1	1	0	A	170585924	C	A	170585924	5	1	22	1	0	0	0	0	0	0	1	0	13621	695	24	2	274	2	RPL22L1	3	170585924	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	477798	170585924	27436506	4678	6824											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475336.1_Intron|TNIK_ENST00000470834.1_Intron|TNIK_ENST00000357327.5_Intron|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R449*|TNIK_ENST00000369326.5_Intron|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000538048.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000488470.1_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													127	502					0	0	1	0	0	A	170857333	G	A	170857333	4	1	22	1	0	0	0	0	0	1	0	0	16373	1095	38	1	2817	1	TNIK	3	170857333	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	271409	170857333	27165097	4679	6825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475336.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000470834.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.R411*|TNIK_ENST00000341852.6_Nonsense_Mutation_p.R411*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R411*|TNIK_ENST00000369326.5_Nonsense_Mutation_p.R411*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000538048.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000488470.1_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													60	702					0	0	1	0	0	A	170858289	G	A	170858289	4	1	22	1	0	0	0	0	0	1	0	0	16373	1095	38	1	2935	1	TNIK	3	170858289	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	956	170858289	27164141	4680	6826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475336.1_Missense_Mutation_p.A88D|TNIK_ENST00000470834.1_Missense_Mutation_p.A88D|TNIK_ENST00000357327.5_Missense_Mutation_p.A88D|TNIK_ENST00000341852.6_Missense_Mutation_p.A88D|TNIK_ENST00000284483.8_Missense_Mutation_p.A88D|TNIK_ENST00000369326.5_Missense_Mutation_p.A88D|TNIK_ENST00000460047.1_Missense_Mutation_p.A88D|TNIK_ENST00000538048.1_Missense_Mutation_p.A88D|TNIK_ENST00000488470.1_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													45	204					3.43241e-23	3.89856e-23	1	1	0	T	170928948	G	T	170928948	3	4	22	1	0	0	0	0	1	0	0	0	16373	971	34	2	3939	2	TNIK	3	170928948	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70659	170928948	27093482	4681	6827											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	317					0	0	1	0	0	A	172351691	G	A	172351691	2	1	22	1	0	0	0	0	0	0	0	1	10262	1048	37	1		1	NCEH1	3	172351691	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1422743	172351691	25670739	4682	6828											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	257					0	0	1	0	0	T	172365723	C	T	172365723	3	4	22	1	0	0	0	0	1	0	0	0	10262	768	27	1	946	1	NCEH1	3	172365723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14032	172365723	25656707	4683	6829											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	283					0	0	1	0	0	C	172365759	A	C	172365759	3	2	22	1	0	0	0	0	1	0	0	0	10262	14	1	3	982	3	NCEH1	3	172365759	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36	172365759	25656671	4684	6830											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000232458.5_Missense_Mutation_p.S591N|ECT2_ENST00000427830.1_Missense_Mutation_p.S591N|ECT2_ENST00000441497.2_Missense_Mutation_p.S591N|ECT2_ENST00000392692.3_Missense_Mutation_p.S622N	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													21	119					0	0	1	0	0	A	172504322	G	A	172504322	3	1	22	1	0	0	0	0	1	0	0	0	4927	971	34	2	1834	2	ECT2	3	172504322	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138563	172504322	25518108	4685	6831											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000232458.5_Missense_Mutation_p.A694T|ECT2_ENST00000427830.1_Missense_Mutation_p.A694T|ECT2_ENST00000441497.2_Missense_Mutation_p.A694T|ECT2_ENST00000392692.3_Missense_Mutation_p.A725T	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													46	194					0	0	1	0	0	A	172523587	G	A	172523587	3	1	22	1	0	0	0	0	1	0	0	0	4927	971	34	2	2154	2	ECT2	3	172523587	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19265	172523587	25498843	4686	6832											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	236					0	0	1	0	0	A	173996663	G	A	173996663	3	1	22	1	0	0	0	0	1	0	0	0	10508	1058	37	1	886	1	NLGN1	3	173996663	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1473076	173996663	24025767	4687	6833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	399					0	0	1	0	0	G	173996999	A	G	173996999	3	3	22	1	0	0	0	0	1	0	0	0	10508	333	12	3	1222	3	NLGN1	3	173996999	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	336	173996999	24025431	4688	6834											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	397					1.80454e-33	2.13885e-33	1	1	0	A	173997160	C	A	173997160	3	1	22	1	0	0	0	0	1	0	0	0	10508	564	20	2	1383	2	NLGN1	3	173997160	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161	173997160	24025270	4689	6835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	323					0	0	1	0	0	A	173998885	G	A	173998885	3	1	22	1	0	0	0	0	1	0	0	0	10508	1116	39	1	2282	1	NLGN1	3	173998885	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1725	173998885	24023545	4690	6836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	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													92	343					0	0	1	0	0	A	174814871	G	A	174814871	3	1	22	1	0	0	0	0	1	0	0	0	10178	1058	37	1	341	1	NAALADL2	3	174814871	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	815986	174814871	23207559	4691	6837											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	51					0.00829132	0.00834067	1	1	0	A	175165072	C	A	175165072	2	1	22	1	0	0	0	0	0	0	0	1	10178	903	32	2		2	NAALADL2	3	175165072	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	350201	175165072	22857358	4692	6838											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	330					0	0	1	0	0	T	178748762	C	T	178748762	3	4	22	1	0	0	0	0	1	0	0	0	17751	884	31	1	589	1	ZMAT3	3	178748762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3583690	178748762	19273668	4693	6839											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	532					5.18985e-55	6.48364e-55	1	1	0	A	178785445	C	A	178785445	3	1	22	1	0	0	0	0	1	0	0	0	17751	796	28	2	793	2	ZMAT3	3	178785445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36683	178785445	19236985	4694	6840											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													147	602					0	0	1	0	0	T	178785487	C	T	178785487	2	4	22	1	0	0	0	0	0	0	0	1	17751	755	27	1		1	ZMAT3	3	178785487	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42	178785487	19236943	4695	6841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000496856.1_Silent_p.T282T|ZNF639_ENST00000484866.1_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													74	419					0	0	1	0	0	T	179051598	C	T	179051598	2	4	22	1	0	0	0	0	0	0	0	1	18113	610	22	2		2	ZNF639	3	179051598	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	266111	179051598	18970832	4696	6842											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_284941.2	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													138	702					0	0	1	0	0	A	179069810	G	A	179069810	3	1	22	1	0	0	0	0	1	0	0	0	9573	1203	42	2	241	2	MFN1	3	179069810	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18212	179069810	18952620	4697	6843											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_284941.2	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													75	323					0	0	1	0	0	A	179076722	G	A	179076722	3	1	22	1	0	0	0	0	1	0	0	0	9573	1377	48	2	353	2	MFN1	3	179076722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6912	179076722	18945708	4698	6844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_284941.2	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													64	269					0	0	1	0	0	G	179076766	A	G	179076766	2	3	22	1	0	0	0	0	0	0	0	1	9573	320	12	3		3	MFN1	3	179076766	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44	179076766	18945664	4699	6845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	382					0	0	1	0	0	A	179123034	G	A	179123034	3	1	22	1	0	0	0	0	1	0	0	0	6562	971	34	2	170	2	GNB4	3	179123034	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46268	179123034	18899396	4700	6846											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	349					0	0	1	0	0	A	179316509	G	A	179316509	3	1	22	1	0	0	0	0	1	0	0	0	9860	1203	42	2	412	2	MRPL47	3	179316509	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	193475	179316509	18705921	4701	6847											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	276					9.12251e-31	1.07152e-30	1	1	0	T	179320442	G	T	179320442	3	4	22	1	0	0	0	0	1	0	0	0	9860	942	33	2	534	2	MRPL47	3	179320442	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3933	179320442	18701988	4702	6848											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000472629.1_Silent_p.L137L|NDUFB5_ENST00000259037.3_Silent_p.L149L|NDUFB5_ENST00000473500.1_3'UTR	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													29	130					0	0	1	0	0	G	179336307	A	G	179336307	2	3	22	1	0	0	0	0	0	0	0	1	10331	388	14	3		3	NDUFB5	3	179336307	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15865	179336307	18686123	4703	6849											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	348					4.41824e-40	5.35239e-40	1	1	0	A	179481862	C	A	179481862	3	1	22	1	0	0	0	0	1	0	0	0	17104	913	32	2	2235	2	USP13	3	179481862	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145555	179481862	18540568	4704	6850											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179499528A>G	ENST00000263966.3	+	20	2886	c.2413_splice	c.e20-1	p.T805_splice	USP13_ENST00000496897.1_Splice_Site_p.T740_splice	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													57	252					0	0	1	0	0	G	179499528	A	G	179499528	5	3	22	1	0	0	0	0	0	0	1	0	17104	231	8	3	2493	3	USP13	3	179499528	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17666	179499528	18522902	4705	6851											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392649.3_Missense_Mutation_p.R437I|PEX5L_ENST00000263962.8_Missense_Mutation_p.R543I|PEX5L_ENST00000476138.1_Missense_Mutation_p.R502I|PEX5L_ENST00000485199.1_Missense_Mutation_p.R510I|PEX5L_ENST00000472994.1_Missense_Mutation_p.R486I|PEX5L_ENST00000468741.1_Missense_Mutation_p.R353I|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.R521I	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													231	893					6.04794e-90	7.76205e-90	1	1	0	A	179525504	C	A	179525504	3	1	22	1	0	0	0	0	1	0	0	0	11797	913	32	2	254	2	PEX5L	3	179525504	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25976	179525504	18496926	4706	6852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392649.3_Missense_Mutation_p.A161V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A267V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A234V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A210V|PEX5L_ENST00000468741.1_Missense_Mutation_p.A77V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000476138.1_Missense_Mutation_p.A226V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A245V	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													37	239					0	0	1	0	0	A	179576866	G	A	179576866	3	1	22	1	0	0	0	0	1	0	0	0	11797	1319	46	2	1106	2	PEX5L	3	179576866	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51362	179576866	18445564	4707	6853											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392649.3_Missense_Mutation_p.A124V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A230V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A197V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A173V|PEX5L_ENST00000468741.1_Missense_Mutation_p.A40V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000476138.1_Missense_Mutation_p.A189V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A208V	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													62	239					0	0	1	0	0	A	179592146	G	A	179592146	3	1	22	1	0	0	0	0	1	0	0	0	11797	971	34	2	1221	2	PEX5L	3	179592146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15280	179592146	18430284	4708	6854											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000412756.2_3'UTR|TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000382584.4_Missense_Mutation_p.K568N	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													198	826					2.5812e-89	3.31226e-89	1	1	0	T	180327721	G	T	180327721	3	4	22	1	0	0	0	0	1	0	0	0	16743	933	33	2	1780	2	TTC14	3	180327721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	735575	180327721	17694709	4709	6855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	241					0	0	1	0	0	T	180397253	C	T	180397253	1	4	22	1	0	0	0	0	0	0	0	0	2830	522	18	2		2	CCDC39	3	180397253	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69532	180397253	17625177	4710	6856											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491062.1_Nonsense_Mutation_p.R62*|FXR1_ENST00000480918.1_Nonsense_Mutation_p.R98*|FXR1_ENST00000468861.1_Nonsense_Mutation_p.R26*|FXR1_ENST00000445140.2_Nonsense_Mutation_p.R111*|FXR1_ENST00000305586.7_Nonsense_Mutation_p.R26*	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													41	213					0	0	1	0	0	T	180666195	C	T	180666195	4	4	22	1	0	0	0	0	0	1	0	0	6150	528	19	1	349	1	FXR1	3	180666195	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	268942	180666195	17356235	4711	6857											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479269.1_5'UTR|DNAJC19_ENST00000491873.1_Intron|DNAJC19_ENST00000486355.1_Missense_Mutation_p.S3G	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													34	144					0	0	1	0	0	C	180706014	T	C	180706014	3	2	22	1	0	0	0	0	1	0	0	0	4665	1580	55	3	363	3	DNAJC19	3	180706014	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39819	180706014	17316416	4712	6858											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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						76	374					0	0	1	0	0	T	181430930	C	T	181430930	3	4	22	1	0	0	0	0	1	0	0	0	15003	855	30	2	784	2	SOX2	3	181430930	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	724916	181430930	16591500	4713	6859											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													174	836					0	0	1	0	0	A	182615133	G	A	182615133	3	1	22	1	0	0	0	0	1	0	0	0	1119	1145	40	1	3197	1	ATP11B	3	182615133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1184203	182615133	15407297	4714	6860											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000489909.1_5'UTR|MCCC1_ENST00000539926.1_Missense_Mutation_p.K366N			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													85	242					1.4051e-37	1.68838e-37	1	1	0	A	182755097	C	A	182755097	3	1	22	1	0	0	0	0	1	0	0	0	9424	680	24	2	702	2	MCCC1	3	182755097	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139964	182755097	15267333	4715	6861											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539926.1_Intron|MCCC1_ENST00000492597.1_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													78	299					0	0	1	0	0	A	182810240	G	A	182810240	3	1	22	1	0	0	0	0	1	0	0	0	9424	1087	38	1	2015	1	MCCC1	3	182810240	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55143	182810240	15212190	4716	6862											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	154					0	0	1	0	0	A	183209999	G	A	183209999	2	1	22	1	0	0	0	0	0	0	0	1	8436	962	34	2		2	KLHL6	3	183209999	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	399759	183209999	14812431	4717	6863											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	289					2.24059e-37	2.69063e-37	1	1	0	A	183210391	C	A	183210391	3	1	22	1	0	0	0	0	1	0	0	0	8436	912	32	2	418	2	KLHL6	3	183210391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	392	183210391	14812039	4718	6864											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	403					0	0	1	0	0	G	183225986	A	G	183225986	3	3	22	1	0	0	0	0	1	0	0	0	8436	275	10	3	1115	3	KLHL6	3	183225986	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15595	183225986	14796444	4719	6865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183390145A>G	ENST00000454652.1	+	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			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	492						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													80	360					0	0	1	0	0	G	183390145	A	G	183390145	3	3	22	1	0	0	0	0	1	0	0	0	8422	14	1	3	1493	3	KLHL24	3	183390145	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	164159	183390145	14632285	4720	6866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	427					0	0	1	0	0	T	183476677	C	T	183476677	3	4	22	1	0	0	0	0	1	0	0	0	17532	797	28	2	1626	2	YEATS2	3	183476677	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86532	183476677	14545753	4721	6867											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	217					0	0	1	0	0	T	183503951	C	T	183503951	2	4	22	1	0	0	0	0	0	0	0	1	17532	639	23	1		1	YEATS2	3	183503951	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27274	183503951	14518479	4722	6868											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	364					0	0	1	0	0	A	183689433	T	A	183689433	3	1	22	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	4723	6869											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	268					0	0	1	0	0	T	183700361	C	T	183700361	3	4	22	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	4724	6870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334128.2_Missense_Mutation_p.L76I|HTR3D_ENST00000453435.1_Missense_Mutation_p.L30I|HTR3D_ENST00000428798.2_Missense_Mutation_p.L201I	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													16	289					6.72482e-11	7.15107e-11	1	1	0	A	183755893	C	A	183755893	3	1	22	1	0	0	0	0	1	0	0	0	7491	681	24	2	903	2	HTR3D	3	183755893	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55532	183755893	14266537	4725	6871											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334128.2_Missense_Mutation_p.A187V|HTR3D_ENST00000453435.1_Missense_Mutation_p.A141V|HTR3D_ENST00000428798.2_Missense_Mutation_p.A312V	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													56	221					0	0	1	0	0	T	183756362	C	T	183756362	3	4	22	1	0	0	0	0	1	0	0	0	7491	768	27	1	1281	1	HTR3D	3	183756362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	469	183756362	14266068	4726	6872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													170	659					0	0	1	0	0	A	183777407	G	A	183777407	3	1	22	1	0	0	0	0	1	0	0	0	7490	1319	46	2	930	2	HTR3C	3	183777407	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21045	183777407	14245023	4727	6873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	364					0	0	1	0	0	T	183777674	C	T	183777674	2	4	22	1	0	0	0	0	0	0	0	1	7490	825	29	2		2	HTR3C	3	183777674	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	267	183777674	14244756	4728	6874											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183822576A>G	ENST00000415389.2	+	5	857	c.389_splice	c.e5-1	p.M131_splice	HTR3E_ENST00000335304.2_Splice_Site_p.M146_splice|HTR3E_ENST00000440596.2_Splice_Site_p.M157_splice|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000425359.2_Splice_Site_p.M116_splice|HTR3E_ENST00000436361.2_Splice_Site_p.M131_splice	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													17	384					0	0	1	0	0	G	183822576	A	G	183822576	5	3	22	1	0	0	0	0	0	0	1	0	7492	231	8	3	450	3	HTR3E	3	183822576	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44902	183822576	14199854	4729	6875											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183860674G>T	ENST00000273783.3	+	11	1776	c.1654_splice	c.e11+1	p.V552_splice	EIF2B5_ENST00000444495.1_Splice_Site_p.V552_splice	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													25	105					1.55469e-16	1.70887e-16	1	1	0	T	183860674	G	T	183860674	5	4	22	1	0	0	0	0	0	0	1	0	5030	1014	35	2	1696	2	EIF2B5	3	183860674	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38098	183860674	14161756	4730	6876											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	DVL3_ENST00000462665.1_3'UTR|DVL3_ENST00000431765.1_Silent_p.L37L|EIF2B5_ENST00000444495.1_Intron	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													74	332					0	0	1	0	0	A	183873534	G	A	183873534	2	1	22	1	0	0	0	0	0	0	0	1	4863	1310	46	2		2	DVL3	3	183873534	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12860	183873534	14148896	4731	6877											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	AP2M1_ENST00000292807.5_Nonsense_Mutation_p.R294*|AP2M1_ENST00000439647.1_Nonsense_Mutation_p.R292*|AP2M1_ENST00000411763.2_Nonsense_Mutation_p.R319*|EIF2B5_ENST00000444495.1_Intron|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													40	153					0	0	1	0	0	T	183899752	C	T	183899752	4	4	22	1	0	0	0	0	0	1	0	0	738	760	27	1	907	1	AP2M1	3	183899752	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26218	183899752	14122678	4732	6878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183911153C>T	ENST00000429586.2	+	20	2069	c.1883_splice	c.e20-1	p.C628_splice	ABCF3_ENST00000292808.5_Splice_Site_p.C622_splice|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													95	510					0	0	1	0	0	T	183911153	C	T	183911153	5	4	22	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	4733	6879											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ALG3_ENST00000397676.3_Silent_p.L218L|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Silent_p.L170L|ALG3_ENST00000418734.2_Silent_p.L162L			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													17	67					0	0	1	0	0	G	183962463	A	G	183962463	2	3	22	1	0	0	0	0	0	0	0	1	516	40	2	3		3	ALG3	3	183962463	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51310	183962463	14059967	4734	6880											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ECE2_ENST00000402825.3_Intron|ECE2_ENST00000359140.4_Intron|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.E29D	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													25	80					6.12954e-19	6.81806e-19	1	1	0	T	183994316	G	T	183994316	3	4	22	1	0	0	0	0	1	0	0	0	4916	933	33	2	873	2	ECE2	3	183994316	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31853	183994316	14028114	4735	6881											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000411531.1_Missense_Mutation_p.R195W|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R71W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R242W|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R242W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R148W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R195W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R242W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R235W|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R39W|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R148W|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R39W|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R235W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R71W	NM_182917.4	NP_886553.3	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													18	487					0	0	1	0	0	T	184039075	C	T	184039075	3	4	22	1	0	0	0	0	1	0	0	0	5064	643	23	1	733	1	EIF4G1	3	184039075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44759	184039075	13983355	4736	6882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000411531.1_Silent_p.S220S|EIF4G1_ENST00000441154.1_Silent_p.S96S|EIF4G1_ENST00000352767.3_Silent_p.S267S|EIF4G1_ENST00000424196.1_Silent_p.S267S|EIF4G1_ENST00000427845.1_Silent_p.S173S|EIF4G1_ENST00000414031.1_Silent_p.S220S|EIF4G1_ENST00000382330.3_Silent_p.S267S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_Silent_p.S260S|EIF4G1_ENST00000435046.2_Silent_p.S64S|EIF4G1_ENST00000392537.2_Silent_p.S173S|EIF4G1_ENST00000434061.2_Silent_p.S64S|EIF4G1_ENST00000346169.2_Silent_p.S260S|EIF4G1_ENST00000350481.5_Silent_p.S96S	NM_182917.4	NP_886553.3	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													9	515					0	0	1	0	0	A	184039152	G	A	184039152	2	1	22	1	0	0	0	0	0	0	0	1	5064	1132	40	1		1	EIF4G1	3	184039152	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77	184039152	13983278	4737	6883											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000411531.1_Missense_Mutation_p.K562N|EIF4G1_ENST00000441154.1_Missense_Mutation_p.K438N|EIF4G1_ENST00000352767.3_Missense_Mutation_p.K609N|EIF4G1_ENST00000424196.1_Missense_Mutation_p.K609N|EIF4G1_ENST00000427845.1_Missense_Mutation_p.K515N|EIF4G1_ENST00000414031.1_Missense_Mutation_p.K562N|EIF4G1_ENST00000382330.3_Missense_Mutation_p.K609N|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_Missense_Mutation_p.K602N|EIF4G1_ENST00000435046.2_Missense_Mutation_p.K406N|EIF4G1_ENST00000392537.2_Missense_Mutation_p.K515N|EIF4G1_ENST00000434061.2_Missense_Mutation_p.K406N|EIF4G1_ENST00000346169.2_Missense_Mutation_p.K602N|EIF4G1_ENST00000350481.5_Missense_Mutation_p.K438N	NM_182917.4	NP_886553.3	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													112	452					2.51308e-46	3.08599e-46	1	1	0	T	184040619	G	T	184040619	3	4	22	1	0	0	0	0	1	0	0	0	5064	962	34	2	1848	2	EIF4G1	3	184040619	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1467	184040619	13981811	4738	6884											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000411531.1_Missense_Mutation_p.D815G|EIF4G1_ENST00000441154.1_Missense_Mutation_p.D691G|EIF4G1_ENST00000352767.3_Missense_Mutation_p.D861G|EIF4G1_ENST00000424196.1_Missense_Mutation_p.D861G|EIF4G1_ENST00000427845.1_Missense_Mutation_p.D768G|EIF4G1_ENST00000414031.1_Missense_Mutation_p.D814G|EIF4G1_ENST00000382330.3_Missense_Mutation_p.D861G|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_Missense_Mutation_p.D854G|EIF4G1_ENST00000435046.2_Missense_Mutation_p.D658G|EIF4G1_ENST00000392537.2_Missense_Mutation_p.D767G|EIF4G1_ENST00000434061.2_Missense_Mutation_p.D659G|EIF4G1_ENST00000346169.2_Missense_Mutation_p.D854G|EIF4G1_ENST00000350481.5_Missense_Mutation_p.D690G	NM_182917.4	NP_886553.3	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													90	477					0	0	1	0	0	G	184042077	A	G	184042077	3	3	22	1	0	0	0	0	1	0	0	0	5064	275	10	3	2619	3	EIF4G1	3	184042077	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1458	184042077	13980353	4739	6885											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000411531.1_Missense_Mutation_p.R1154W|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R1030W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1200W|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1200W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R1107W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1153W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1200W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1193W|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R997W|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R1106W|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R998W|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R1193W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R1029W	NM_182917.4	NP_886553.3	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													59	284					0	0	1	0	0	T	184045152	C	T	184045152	3	4	22	1	0	0	0	0	1	0	0	0	5064	759	27	1	3663	1	EIF4G1	3	184045152	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3075	184045152	13977278	4740	6886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000411531.1_Missense_Mutation_p.L1299I|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L1175I|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L1345I|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L1345I|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L1252I|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L1298I|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L1345I|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_Missense_Mutation_p.L1338I|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L1142I|EIF4G1_ENST00000392537.2_Missense_Mutation_p.L1251I|EIF4G1_ENST00000434061.2_Missense_Mutation_p.L1143I|EIF4G1_ENST00000346169.2_Missense_Mutation_p.L1338I|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L1174I	NM_182917.4	NP_886553.3	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													134	562					6.42063e-57	8.038e-57	1	1	0	A	184046477	C	A	184046477	3	1	22	1	0	0	0	0	1	0	0	0	5064	797	28	2	4110	2	EIF4G1	3	184046477	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1325	184046477	13975953	4741	6887											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000411531.1_Missense_Mutation_p.V1515M|EIF4G1_ENST00000441154.1_Missense_Mutation_p.V1391M|EIF4G1_ENST00000352767.3_Missense_Mutation_p.V1561M|EIF4G1_ENST00000424196.1_Missense_Mutation_p.V1561M|EIF4G1_ENST00000427845.1_Missense_Mutation_p.V1468M|EIF4G1_ENST00000414031.1_Missense_Mutation_p.V1514M|EIF4G1_ENST00000382330.3_Missense_Mutation_p.V1561M|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_Missense_Mutation_p.V1554M|EIF4G1_ENST00000435046.2_Missense_Mutation_p.V1358M|EIF4G1_ENST00000392537.2_Missense_Mutation_p.V1467M|EIF4G1_ENST00000434061.2_Missense_Mutation_p.V1359M|EIF4G1_ENST00000346169.2_Missense_Mutation_p.V1554M|EIF4G1_ENST00000350481.5_Missense_Mutation_p.V1390M	NM_182917.4	NP_886553.3	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													43	418					0	0	1	0	0	A	184052556	G	A	184052556	3	1	22	1	0	0	0	0	1	0	0	0	5064	1145	40	1	4782	1	EIF4G1	3	184052556	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6079	184052556	13969874	4742	6888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FAM131A_ENST00000450976.1_Missense_Mutation_p.R149C|FAM131A_ENST00000340957.5_Missense_Mutation_p.R149C|FAM131A_ENST00000453072.1_Missense_Mutation_p.R149C|FAM131A_ENST00000383847.2_Missense_Mutation_p.R234C|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000418281.1_Missense_Mutation_p.R111C			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													142	506					0	0	1	0	0	T	184062357	C	T	184062357	3	4	22	1	0	0	0	0	1	0	0	0	5470	768	27	1	722	1	FAM131A	3	184062357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9801	184062357	13960073	4743	6889											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.R819Q|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Missense_Mutation_p.R807Q	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													79	317					0	0	1	0	0	T	184064584	C	T	184064584	3	4	22	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	4744	6890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|CLCN2_ENST00000423355.2_Missense_Mutation_p.R126W|CLCN2_ENST00000344937.7_Missense_Mutation_p.A493V|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Missense_Mutation_p.A510V	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)	36	145					0	0	1	0	0	A	184072081	G	A	184072081	3	1	22	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	4745	6891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|CLCN2_ENST00000423355.2_Splice_Site|CLCN2_ENST00000344937.7_Splice_Site|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_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													64	360					0	0	1	0	0	G	184079203	A	G	184079203	5	3	22	1	0	0	0	0	0	0	1	0	3486	405	14	3	2727	3	CLCN2	3	184079203	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7122	184079203	13943227	4746	6892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	THPO_ENST00000421442.2_Missense_Mutation_p.R243K|THPO_ENST00000445696.2_Missense_Mutation_p.G278S|EIF2B5_ENST00000444495.1_Intron	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													196	810					0	0	1	0	0	T	184090519	C	T	184090519	3	4	22	1	0	0	0	0	1	0	0	0	15932	681	24	2	221	2	THPO	3	184090519	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11316	184090519	13931911	4747	6893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CHRD_ENST00000450923.1_Missense_Mutation_p.L586F|CHRD_ENST00000348986.3_Missense_Mutation_p.L546F|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.L216F	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													149	638					0	0	1	0	0	T	184102964	C	T	184102964	3	4	22	1	0	0	0	0	1	0	0	0	3394	681	24	2	1810	2	CHRD	3	184102964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12445	184102964	13919466	4748	6894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CHRD_ENST00000450923.1_Missense_Mutation_p.P672L|CHRD_ENST00000348986.3_Missense_Mutation_p.P632L|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Intron	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													17	73					0	0	1	0	0	T	184104362	C	T	184104362	3	4	22	1	0	0	0	0	1	0	0	0	3394	652	23	1	2077	1	CHRD	3	184104362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1398	184104362	13918068	4749	6895											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	313					0	0	1	0	0	T	184290513	C	T	184290513	2	4	22	1	0	0	0	0	0	0	0	1	5204	547	19	1		1	EPHB3	3	184290513	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186151	184290513	13731917	4750	6896											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	345					0	0	1	0	0	A	184290757	G	A	184290757	3	1	22	1	0	0	0	0	1	0	0	0	5204	1087	38	1	659	1	EPHB3	3	184290757	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	244	184290757	13731673	4751	6897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	342					0	0	1	0	0	T	184297593	C	T	184297593	2	4	22	1	0	0	0	0	0	0	0	1	5204	767	27	1		1	EPHB3	3	184297593	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6836	184297593	13724837	4752	6898											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	488					0	0	1	0	0	T	184298910	C	T	184298910	3	4	22	1	0	0	0	0	1	0	0	0	5204	652	23	1	2743	1	EPHB3	3	184298910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1317	184298910	13723520	4753	6899											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	100					0	0	1	0	0	T	184299391	C	T	184299391	3	4	22	1	0	0	0	0	1	0	0	0	5204	536	19	1	3040	1	EPHB3	3	184299391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	481	184299391	13723039	4754	6900											
VPS8	23355	broad.mit.edu	37	chr3	184766325	184766325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatttgatcagctttgccGtctctaccgaggaagctcca	9	12	2	1	rs16859527	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184766325G>A	ENST00000437079.3	+	47	4286	c.4115G>A	c.(4114-4116)cGt>cAt	p.R1372H	VPS8_ENST00000436792.2_Missense_Mutation_p.R1370H|VPS8_ENST00000446204.2_Missense_Mutation_p.R1280H|VPS8_ENST00000287546.4_Missense_Mutation_p.R1372H	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1372			R -> H (in dbSNP:rs16859527).				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)			CAGCTTTGCCGTCTCTACCGA	0.418													89	395					0	0	1	0	0	A	184766325	G	A	184766325	3	1	22	1	0	0	0	0	1	0	0	0	17278	1145	40	1	4293	1	VPS8	3	184766325	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	466934	184766325	13256105	4755	6901											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184971732G>A	ENST00000456310.1	-	0	104				EHHADH_ENST00000440662.1_Intron|EHHADH_ENST00000231887.3_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													44	152					0	0	1	0	0	A	184971732	G	A	184971732	1	1	22	1	0	0	0	0	0	0	0	0	5008	1160	40	1		1	EHHADH	3	184971732	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205407	184971732	13050698	4756	6902											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446828.1_Missense_Mutation_p.R271W|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R334W|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R334W|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R478W	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													143	562					0	0	1	0	0	T	185183578	C	T	185183578	3	4	22	1	0	0	0	0	1	0	0	0	9297	759	27	1	1462	1	MAP3K13	3	185183578	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211846	185183578	12838852	4757	6903											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446828.1_Silent_p.D735D|TMEM41A_ENST00000475480.1_Intron|MAP3K13_ENST00000443863.1_Silent_p.D798D|MAP3K13_ENST00000535426.1_Silent_p.D798D|MAP3K13_ENST00000424227.1_Silent_p.D942D	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													117	468					0	0	1	0	0	T	185200169	C	T	185200169	2	4	22	1	0	0	0	0	0	0	0	1	9297	564	20	2		2	MAP3K13	3	185200169	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16591	185200169	12822261	4758	6904											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	225					0	0	1	0	0	G	185209335	T	G	185209335	3	3	22	1	0	0	0	0	1	0	0	0	16224	1841	64	3	13	3	TMEM41A	3	185209335	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9166	185209335	12813095	4759	6905											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	352					0	0	1	0	0	C	185232288	A	C	185232288	3	2	22	1	0	0	0	0	1	0	0	0	8865	101	4	3	363	3	LIPH	3	185232288	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22953	185232288	12790142	4760	6906											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545472.1_Intron|SENP2_ENST00000465201.1_Intron|SENP2_ENST00000427465.2_De_novo_Start_InFrame	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													189	780					0	0	1	0	0	A	185304209	G	A	185304209	3	1	22	1	0	0	0	0	1	0	0	0	14101	942	33	2	10	2	SENP2	3	185304209	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71921	185304209	12718221	4761	6907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346192.3_Silent_p.P195P|IGF2BP2_ENST00000421047.2_Silent_p.P138P	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													118	622					0	0	1	0	0	T	185407235	C	T	185407235	2	4	22	1	0	0	0	0	0	0	0	1	7618	755	27	1		1	IGF2BP2	3	185407235	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103026	185407235	12615195	4762	6908											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Missense_Mutation_p.P443L|ETV5_ENST00000434744.1_Missense_Mutation_p.P401L	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								39	191					0	0	1	0	0	A	185774871	G	A	185774871	3	1	22	1	0	0	0	0	1	0	0	0	5310	1116	39	1	342	1	ETV5	3	185774871	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	367636	185774871	12247559	4763	6909											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344484.4_Missense_Mutation_p.V367M|DGKG_ENST00000544847.1_Intron|DGKG_ENST00000382164.4_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													36	169					0	0	1	0	0	T	185986607	C	T	185986607	3	4	22	1	0	0	0	0	1	0	0	0	4497	536	19	1	1332	1	DGKG	3	185986607	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211736	185986607	12035823	4764	6910											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344484.4_Silent_p.G268G|DGKG_ENST00000544847.1_Silent_p.G268G|DGKG_ENST00000382164.4_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													6	220					0	0	1	0	0	T	185993442	C	T	185993442	2	4	22	1	0	0	0	0	0	0	0	1	4497	610	22	2		2	DGKG	3	185993442	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6835	185993442	12028988	4765	6911											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	238					0	0	1	0	0	A	186256636	G	A	186256636	3	1	22	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	4766	6912											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000338733.5_Silent_p.Q499Q|TBCCD1_ENST00000446782.1_Silent_p.Q403Q	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													129	597					0	0	1	0	0	T	186272090	C	T	186272090	2	4	22	1	0	0	0	0	0	0	0	1	15692	912	32	2		2	TBCCD1	3	186272090	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15454	186272090	11750340	4767	6913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	448					0	0	1	0	0	A	186299230	G	A	186299230	3	1	22	1	0	0	0	0	1	0	0	0	4643	1116	39	1	545	1	DNAJB11	3	186299230	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27140	186299230	11723200	4768	6914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	252					0	0	1	0	0	T	186302256	C	T	186302256	3	4	22	1	0	0	0	0	1	0	0	0	4643	768	27	1	924	1	DNAJB11	3	186302256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3026	186302256	11720174	4769	6915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	85					0	0	1	0	0	T	186334294	C	T	186334294	2	4	22	1	0	0	0	0	0	0	0	1	417	547	19	1		1	AHSG	3	186334294	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32038	186334294	11688136	4770	6916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450521.1_Missense_Mutation_p.G59R|FETUB_ENST00000382134.3_Missense_Mutation_p.G59R|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382136.3_Missense_Mutation_p.G59R|FETUB_ENST00000539949.1_Intron	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													227	1013					0	0	1	0	0	C	186358424	G	C	186358424	3	2	22	1	0	0	0	0	1	0	0	0	5854	1348	47	5	177	5	FETUB	3	186358424	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24130	186358424	11664006	4771	6917											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	284					0	0	1	0	0	T	186395415	C	T	186395415	4	4	22	1	0	0	0	0	0	1	0	0	7395	760	27	1	1347	1	HRG	3	186395415	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36991	186395415	11627015	4772	6918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440191.2_Missense_Mutation_p.V343M|EIF4A2_ENST00000356531.5_Missense_Mutation_p.V247M			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								78	303					0	0	1	0	0	A	186505616	G	A	186505616	3	1	22	1	0	0	0	0	1	0	0	0	5053	1029	36	2	1062	2	EIF4A2	3	186505616	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110201	186505616	11516814	4773	6919											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	248					0	0	1	0	0	T	186793412	C	T	186793412	3	4	22	1	0	0	0	0	1	0	0	0	15277	768	27	1	1060	1	ST6GAL1	3	186793412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	287796	186793412	11229018	4774	6920											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	569					0	0	1	0	0	A	186917808	G	A	186917808	3	1	22	1	0	0	0	0	1	0	0	0	13785	1261	44	2	748	2	RTP1	3	186917808	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124396	186917808	11104622	4775	6921											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	261					0	0	1	0	0	A	186953477	G	A	186953477	3	1	22	1	0	0	0	0	1	0	0	0	9372	1144	40	1	829	1	MASP1	3	186953477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35669	186953477	11068953	4776	6922											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000296280.6_Missense_Mutation_p.I359S|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.I333S|MASP1_ENST00000169293.6_Missense_Mutation_p.I359S|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													143	763					0	0	1	0	0	C	186968053	A	C	186968053	3	2	22	1	0	0	0	0	1	0	0	0	9372	101	4	3	2004	3	MASP1	3	186968053	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14576	186968053	11054377	4777	6923											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187009414A>G	ENST00000337774.5	-	1	395		c.e1+1		MASP1_ENST00000296280.6_Splice_Site|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Splice_Site|MASP1_ENST00000169293.6_Splice_Site|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													73	381					0	0	1	0	0	G	187009414	A	G	187009414	5	3	22	1	0	0	0	0	0	0	1	0	9372	405	14	3	3101	3	MASP1	3	187009414	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41361	187009414	11013016	4778	6924											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	154					0	0	1	0	0	A	187088613	G	A	187088613	3	1	22	1	0	0	0	0	1	0	0	0	13788	1087	38	1	199	1	RTP4	3	187088613	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79199	187088613	10933817	4779	6925											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													246	1036					0	0	1	0	0	T	187386922	C	T	187386922	2	4	22	1	0	0	0	0	0	0	0	1	15252	639	23	1		1	SST	3	187386922	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	298309	187386922	10635508	4780	6926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													304	1179					0	0	1	0	0	G	187386950	T	G	187386950	3	3	22	1	0	0	0	0	1	0	0	0	15252	1551	54	3	100	3	SST	3	187386950	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28	187386950	10635480	4781	6927											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	45					0	0	1	0	0	T	187387999	C	T	187387999	2	4	22	1	0	0	0	0	0	0	0	1	15252	639	23	1		1	SST	3	187387999	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1049	187387999	10634431	4782	6928											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450123.2_Missense_Mutation_p.Y91H|BCL6_ENST00000232014.4_Missense_Mutation_p.Y91H|RP11-211G3.3_ENST00000449623.1_Intron	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"								13	285					0	0	1	0	0	G	187449609	A	G	187449609	3	3	22	1	0	0	0	0	1	0	0	0	1374	391	14	3	1877	3	BCL6	3	187449609	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	61610	187449609	10572821	4783	6929											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Missense_Mutation_p.I243M	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"								72	272					0	0	1	0	0	G	188327248	T	G	188327248	3	3	22	1	0	0	0	0	1	0	0	0	8968	1829	64	3	743	3	LPP	3	188327248	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	877639	188327248	9695182	4784	6930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								53	348					0	0	1	0	0	T	188584050	C	T	188584050	2	4	22	1	0	0	0	0	0	0	0	1	8968	639	23	1		1	LPP	3	188584050	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	256802	188584050	9438380	4785	6931											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								53	172					0	0	1	0	0	T	188590548	C	T	188590548	2	4	22	1	0	0	0	0	0	0	0	1	8968	776	27	1		1	LPP	3	188590548	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6498	188590548	9431882	4786	6932											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	390					0	0	1	0	0	G	189028272	A	G	189028272	3	3	22	1	0	0	0	0	1	0	0	0	16479	391	14	3	591	3	TPRG1	3	189028272	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	437724	189028272	8994158	4787	6933											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000418709.2_Silent_p.Q12Q|TP63_ENST00000382063.4_Silent_p.Q12Q|TP63_ENST00000440651.2_Silent_p.Q12Q|TP63_ENST00000320472.5_Silent_p.Q12Q|TP63_ENST00000392460.3_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)			127	681					0	0	1	0	0	A	189349340	G	A	189349340	2	1	22	1	0	0	0	0	0	0	0	1	16453	1020	36	2		2	TP63	3	189349340	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	321068	189349340	8673090	4788	6934											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000418709.2_Missense_Mutation_p.Q20H|TP63_ENST00000382063.4_Missense_Mutation_p.Q20H|TP63_ENST00000440651.2_Missense_Mutation_p.Q20H|TP63_ENST00000320472.5_Missense_Mutation_p.Q20H|TP63_ENST00000392460.3_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)			110	611					1.93806e-58	2.4311e-58	1	1	0	T	189349364	G	T	189349364	3	4	22	1	0	0	0	0	1	0	0	0	16453	962	34	2	62	2	TP63	3	189349364	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24	189349364	8673066	4789	6935											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392463.2_Intron|TP63_ENST00000264731.3_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000392461.3_Intron|TP63_ENST00000354600.5_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000440651.2_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000437221.1_Missense_Mutation_p.R389Q|TP63_ENST00000456148.1_Intron|TP63_ENST00000392460.3_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)			68	279					0	0	1	0	0	A	189597951	G	A	189597951	3	1	22	1	0	0	0	0	1	0	0	0	16453	1058	37	1	1536	1	TP63	3	189597951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	248587	189597951	8424479	4790	6936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	238					0	0	1	0	0	A	189702355	G	A	189702355	4	1	22	1	0	0	0	0	0	1	0	0	8769	1153	40	1	949	1	LEPREL1	3	189702355	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104404	189702355	8320075	4791	6937											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434491.1_Missense_Mutation_p.Y12H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000422485.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000443369.2_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													70	333					0	0	1	0	0	C	190326890	T	C	190326890	3	2	22	1	0	0	0	0	1	0	0	0	7704	1406	49	3	467	3	IL1RAP	3	190326890	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	624535	190326890	7695540	4792	6938											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434491.1_Missense_Mutation_p.R187H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000422485.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000443369.2_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													34	125					0	0	1	0	0	A	190347219	G	A	190347219	3	1	22	1	0	0	0	0	1	0	0	0	7704	1087	38	1	1009	1	IL1RAP	3	190347219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20329	190347219	7675211	4793	6939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:191888348C>T	ENST00000454309.2	-	4	1337	c.512G>A	c.(511-513)cGa>cAa	p.R171Q	FGF12_ENST00000264730.3_Missense_Mutation_p.R109Q|FGF12_ENST00000450716.1_Missense_Mutation_p.R109Q|FGF12_ENST00000445105.1_Missense_Mutation_p.R109Q|FGF12_ENST00000430714.1_Missense_Mutation_p.R72Q	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	171					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													238	912					0	0	1	0	0	T	191888348	C	T	191888348	3	4	22	1	0	0	0	0	1	0	0	0	5874	884	31	1	227	1	FGF12	3	191888348	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1541129	191888348	6134082	4794	6940											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													132	650					0	0	1	0	0	A	192973503	G	A	192973503	3	1	22	1	0	0	0	0	1	0	0	0	7390	1059	37	1	66	1	HRASLS	3	192973503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1085155	192973503	5048927	4795	6941											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													127	549					0	0	1	0	0	C	193036817	T	C	193036817	3	2	22	1	0	0	0	0	1	0	0	0	1126	1850	64	3	1714	3	ATP13A5	3	193036817	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63314	193036817	4985613	4796	6942											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													142	538					5.39599e-84	6.91194e-84	1	1	0	A	193036890	C	A	193036890	3	1	22	1	0	0	0	0	1	0	0	0	1126	912	32	2	1787	2	ATP13A5	3	193036890	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73	193036890	4985540	4797	6943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	533					3.20412e-72	4.07588e-72	1	1	0	A	193096461	C	A	193096461	3	1	22	1	0	0	0	0	1	0	0	0	1126	680	24	2	3720	2	ATP13A5	3	193096461	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59571	193096461	4925969	4798	6944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	364					0	0	1	0	0	T	193166086	C	T	193166086	2	4	22	1	0	0	0	0	0	0	0	1	1125	726	26	2		2	ATP13A4	3	193166086	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69625	193166086	4856344	4799	6945											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	370					5.77227e-19	6.42407e-19	1	1	0	A	193166103	C	A	193166103	3	1	22	1	0	0	0	0	1	0	0	0	1125	913	32	2	1598	2	ATP13A4	3	193166103	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17	193166103	4856327	4800	6946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	220					0	0	1	0	0	T	193171892	C	T	193171892	2	4	22	1	0	0	0	0	0	0	0	1	1125	871	31	1		1	ATP13A4	3	193171892	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5789	193171892	4850538	4801	6947											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001073982.2	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													71	297					4.96364e-44	6.06858e-44	1	1	0	A	194061981	C	A	194061981	3	1	22	1	0	0	0	0	1	0	0	0	3833	797	28	2	190	2	CPN2	3	194061981	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	890089	194061981	3960449	4802	6948											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	56					0	0	1	0	0	C	194117894	T	C	194117894	3	2	22	1	0	0	0	0	1	0	0	0	6623	1725	60	3	568	3	GP5	3	194117894	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	55913	194117894	3904536	4803	6949											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	513					0	0	1	0	0	G	194118727	A	G	194118727	2	3	22	1	0	0	0	0	0	0	0	1	6623	156	6	3		3	GP5	3	194118727	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	833	194118727	3903703	4804	6950											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	351					6.8682e-38	8.26113e-38	1	1	0	T	194118876	G	T	194118876	3	4	22	1	0	0	0	0	1	0	0	0	6623	962	34	2	1550	2	GP5	3	194118876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149	194118876	3903554	4805	6951											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	498					0	0	1	0	0	A	195013054	G	A	195013054	2	1	22	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	4806	6952											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	735					0	0	1	0	0	A	195022900	G	A	195022900	2	1	22	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	4807	6953											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475231.1_Missense_Mutation_p.D4939N|MUC4_ENST00000349607.4_Missense_Mutation_p.D704N|MUC4_ENST00000346145.4_Missense_Mutation_p.D755N	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													279	1205					0	0	1	0	0	T	195486010	C	T	195486010	3	4	22	1	0	0	0	0	1	0	0	0	10026	884	31	1	1303	1	MUC4	3	195486010	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	463110	195486010	2536420	4808	6954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475231.1_Missense_Mutation_p.G4880R|MUC4_ENST00000349607.4_Missense_Mutation_p.G645R|MUC4_ENST00000346145.4_Missense_Mutation_p.G696R	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													91	355					0	0	1	0	0	T	195487809	C	T	195487809	3	4	22	1	0	0	0	0	1	0	0	0	10026	661	23	1	1484	1	MUC4	3	195487809	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1799	195487809	2534621	4809	6955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475231.1_Missense_Mutation_p.V868I|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	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													25	136					0	0	1	0	0	T	195515849	C	T	195515849	3	4	22	1	0	0	0	0	1	0	0	0	10026	536	19	1		1	MUC4	3	195515849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28040	195515849	2506581	4810	6956											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475231.1_Nonsense_Mutation_p.Q644*|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	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													150	708					0	0	1	0	0	A	195516521	G	A	195516521	4	1	22	1	0	0	0	0	0	1	0	0	10026	1328	46	2		2	MUC4	3	195516521	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	672	195516521	2505909	4811	6957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475231.1_Missense_Mutation_p.L289P|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	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													82	294					0	0	1	0	0	G	195517585	A	G	195517585	3	3	22	1	0	0	0	0	1	0	0	0	10026	72	3	3		3	MUC4	3	195517585	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1064	195517585	2504845	4812	6958											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392400.1_Silent_p.S1030S|TNK2_ENST00000428187.1_Silent_p.S1032S|TNK2_ENST00000381916.2_Silent_p.S1078S	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													13	90					0	0	1	0	0	A	195593780	G	A	195593780	2	1	22	1	0	0	0	0	0	0	0	1	16378	987	35	2		2	TNK2	3	195593780	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76195	195593780	2428650	4813	6959											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392400.1_Missense_Mutation_p.P1005H|TNK2_ENST00000428187.1_Missense_Mutation_p.P1007H|TNK2_ENST00000381916.2_Missense_Mutation_p.P1053H	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													8	202					1.76689e-08	1.84553e-08	1	1	0	T	195593856	G	T	195593856	3	4	22	1	0	0	0	0	1	0	0	0	16378	1232	43	2	110	2	TNK2	3	195593856	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76	195593856	2428574	4814	6960											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000444939.1_RNA|TM4SF19_ENST00000273695.3_Missense_Mutation_p.S198I|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000454715.1_Missense_Mutation_p.S172I			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													19	346					1.33834e-09	1.40959e-09	1	1	0	A	196050725	C	A	196050725	3	1	22	1	0	0	0	0	1	0	0	0	16028	797	28	2	40	2	TM4SF19	3	196050725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	456869	196050725	1971705	4815	6961											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	411					0	0	1	0	0	A	196214437	G	A	196214437	4	1	22	1	0	0	0	0	0	1	0	0	13511	1095	38	1	1340	1	RNF168	3	196214437	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163712	196214437	1807993	4816	6962											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	99					0	0	1	0	0	T	196304505	C	T	196304505	3	4	22	1	0	0	0	0	1	0	0	0	5787	565	20	2	506	2	FBXO45	3	196304505	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90068	196304505	1717925	4817	6963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	1081					2.40579e-17	2.65515e-17	1	1	0	A	196509633	C	A	196509633	3	1	22	1	0	0	0	0	1	0	0	0	11448	681	24	2	118	2	PAK2	3	196509633	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	205128	196509633	1512797	4818	6964											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													149	637					1.5746e-79	2.01278e-79	1	1	0	A	196541366	C	A	196541366	3	1	22	1	0	0	0	0	1	0	0	0	11448	797	28	2	1018	2	PAK2	3	196541366	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31733	196541366	1481064	4819	6965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Silent_p.G350G	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													18	255					9.16793e-09	9.60025e-09	1	1	0	A	196613102	C	A	196613102	2	1	22	1	0	0	0	0	0	0	0	1	14103	697	25	2		2	SENP5	3	196613102	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71736	196613102	1409328	4820	6966											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447325.1_5'UTR|NCBP2_ENST00000452404.2_Missense_Mutation_p.S45R|NCBP2_ENST00000427641.2_Intron|NCBP2_ENST00000422610.1_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													60	272					0	0	1	0	0	G	196666195	T	G	196666195	3	3	22	1	0	0	0	0	1	0	0	0	10259	1609	56	3	295	3	NCBP2	3	196666195	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	53093	196666195	1356235	4821	6967											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	92					0	0	1	0	0	T	196678897	C	T	196678897	2	4	22	1	0	0	0	0	0	0	0	1	11953	912	32	2		2	PIGZ	3	196678897	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12702	196678897	1343533	4822	6968											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357674.4_Nonsense_Mutation_p.Q124*|DLG1_ENST00000422288.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000392382.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000448528.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000450955.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000419354.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000314062.3_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													40	232					0	0	1	0	0	A	196921409	G	A	196921409	4	1	22	1	0	0	0	0	0	1	0	0	4582	1386	48	2	2536	2	DLG1	3	196921409	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242512	196921409	1101021	4823	6969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392378.2_Missense_Mutation_p.A165T|BDH1_ENST00000358186.2_Missense_Mutation_p.A165T|BDH1_ENST00000441275.1_Missense_Mutation_p.A78T	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													36	335					0	0	1	0	0	T	197241204	C	T	197241204	3	4	22	1	0	0	0	0	1	0	0	0	1388	739	26	2	546	2	BDH1	3	197241204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	319795	197241204	781226	4824	6970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	386					2.22156e-40	2.69346e-40	1	1	0	T	197401903	G	T	197401903	3	4	22	1	0	0	0	0	1	0	0	0	8204	991	35	2	17	2	KIAA0226	3	197401903	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	160699	197401903	620527	4825	6971											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000296343.5_Missense_Mutation_p.R810W|KIAA0226_ENST00000389665.5_Missense_Mutation_p.R835W	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													63	259					0	0	1	0	0	A	197408002	G	A	197408002	3	1	22	1	0	0	0	0	1	0	0	0	8204	1115	39	1	510	1	KIAA0226	3	197408002	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6099	197408002	614428	4826	6972											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000296343.5_Silent_p.C750C|KIAA0226_ENST00000389665.5_Silent_p.C775C	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													106	399					0	0	1	0	0	A	197408180	G	A	197408180	2	1	22	1	0	0	0	0	0	0	0	1	8204	1195	42	2		2	KIAA0226	3	197408180	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178	197408180	614250	4827	6973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000296343.5_Missense_Mutation_p.R720C|KIAA0226_ENST00000389665.5_Missense_Mutation_p.R745C	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													29	213					0	0	1	0	0	A	197408739	G	A	197408739	3	1	22	1	0	0	0	0	1	0	0	0	8204	1116	39	1	784	1	KIAA0226	3	197408739	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	559	197408739	613691	4828	6974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Missense_Mutation_p.S111I|KIAA0226_ENST00000296343.5_Missense_Mutation_p.S111I|KIAA0226_ENST00000389665.5_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													44	230					1.22674e-20	1.37621e-20	1	1	0	A	197431544	C	A	197431544	3	1	22	1	0	0	0	0	1	0	0	0	8204	797	28	2	2703	2	KIAA0226	3	197431544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22805	197431544	590886	4829	6975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Silent_p.S104S|KIAA0226_ENST00000296343.5_Silent_p.S104S|KIAA0226_ENST00000389665.5_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													14	207					0	0	1	0	0	A	197431564	G	A	197431564	2	1	22	1	0	0	0	0	0	0	0	1	8204	1078	38	1		1	KIAA0226	3	197431564	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	197431564	590866	4830	6976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000425562.2_Nonsense_Mutation_p.R91*|LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000414675.2_Nonsense_Mutation_p.R91*|LRCH3_ENST00000334859.4_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													40	161					0	0	1	0	0	T	197541787	C	T	197541787	4	4	22	1	0	0	0	0	0	1	0	0	8979	760	27	1	277	1	LRCH3	3	197541787	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110223	197541787	480643	4831	6977											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000425562.2_Missense_Mutation_p.A425T|LRCH3_ENST00000536618.1_Missense_Mutation_p.A20T|LRCH3_ENST00000441090.2_Missense_Mutation_p.A271T|LRCH3_ENST00000414675.2_Missense_Mutation_p.A397T|LRCH3_ENST00000334859.4_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													33	152					0	0	1	0	0	A	197566213	G	A	197566213	3	1	22	1	0	0	0	0	1	0	0	0	8979	971	34	2	1311	2	LRCH3	3	197566213	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24426	197566213	456217	4832	6978											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453254.1_Missense_Mutation_p.R138W|IQCG_ENST00000455191.1_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													285	1382					0	0	1	0	0	A	197665522	G	A	197665522	3	1	22	1	0	0	0	0	1	0	0	0	7854	1115	39	1	951	1	IQCG	3	197665522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99309	197665522	356908	4833	6979											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453254.1_Silent_p.L130L|IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Silent_p.L130L	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													281	1361					0	0	1	0	0	T	197665544	C	T	197665544	2	4	22	1	0	0	0	0	0	0	0	1	7854	709	25	2		2	IQCG	3	197665544	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	197665544	356886	4834	6980											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	88					3.10358e-05	3.17146e-05	1	1	0	A	155444	C	A	155444	1	1	22	0	1	0	0	0	0	0	0	0	18175	668	24	2		2	ZNF718	4	155444	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08		155444	190998832	4835	6981											
ZNF141	7700	broad.mit.edu	37	chr4	367133	367133	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaactttgccaaacataagCgaattcatactggagagaaa	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:367133C>T	ENST00000240499.7	+	4	1056	c.907C>T	c.(907-909)Cga>Tga	p.R303*	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	303					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						CAAACATAAGCGAATTCATAC	0.378													65	371					0	0	1	0	0	T	367133	C	T	367133	4	4	22	1	0	0	0	0	0	1	0	0	17788	760	27	1	921	1	ZNF141	4	367133	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211689	367133	190787143	4836	6982											
ZNF141	7700	broad.mit.edu	37	chr4	367319	367319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaagttcatactggagagCggccctacaaatgtgatgaa	11	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:367319C>T	ENST00000240499.7	+	4	1242	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	365					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						TACTGGAGAGCGGCCCTACAA	0.408													72	236					0	0	1	0	0	T	367319	C	T	367319	3	4	22	1	0	0	0	0	1	0	0	0	17788	759	27	1	1107	1	ZNF141	4	367319	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186	367319	190786957	4837	6983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_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													72	303					2.40655e-23	2.73437e-23	1	1	0	A	367647	C	A	367647	3	1	22	1	0	0	0	0	1	0	0	0	17788	565	20	2	1435	2	ZNF141	4	367647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	328	367647	190786629	4838	6984											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000296306.7_3'UTR|PIGG_ENST00000504346.1_Missense_Mutation_p.I667S|PIGG_ENST00000310340.5_Missense_Mutation_p.I748S|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													73	391					0	0	1	0	0	G	524230	T	G	524230	3	3	22	1	0	0	0	0	1	0	0	0	11936	1493	52	3	2309	3	PIGG	4	524230	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	156583	524230	190630046	4839	6985											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000383028.4_Missense_Mutation_p.Y759H|PIGG_ENST00000310340.5_Missense_Mutation_p.Y884H|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000504346.1_Missense_Mutation_p.Y803H	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													52	281					0	0	1	0	0	C	527709	T	C	527709	3	2	22	1	0	0	0	0	1	0	0	0	11936	1638	57	3	2720	3	PIGG	4	527709	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3479	527709	190626567	4840	6986											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001138763.1	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													34	321					0	0	1	0	0	T	619547	C	T	619547	2	4	22	1	0	0	0	0	0	0	0	1	11693	776	27	1		1	PDE6B	4	619547	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91838	619547	190534729	4841	6987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429163.2_Missense_Mutation_p.A70T|PDE6B_ENST00000496514.1_Missense_Mutation_p.A349T	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	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													52	243					0	0	1	0	0	A	649781	G	A	649781	3	1	22	1	0	0	0	0	1	0	0	0	11693	1203	42	2	1071	2	PDE6B	4	649781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30234	649781	190504495	4842	6988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001138763.1	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													11	43					0	0	1	0	0	T	655986	C	T	655986	3	4	22	1	0	0	0	0	1	0	0	0	11693	768	27	1	1728	1	PDE6B	4	655986	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6205	655986	190498290	4843	6989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001138763.1	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													108	513					0	0	1	0	0	A	661780	G	A	661780	3	1	22	1	0	0	0	0	1	0	0	0	11693	1261	44	2	2570	2	PDE6B	4	661780	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5794	661780	190492496	4844	6990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503156.1_Intron|MFSD7_ENST00000515118.1_Missense_Mutation_p.A331T|MFSD7_ENST00000347950.5_Missense_Mutation_p.A309T|MFSD7_ENST00000404286.2_Missense_Mutation_p.A428T			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													18	83					0	0	1	0	0	T	676148	C	T	676148	3	4	22	1	0	0	0	0	1	0	0	0	9587	739	26	2	404	2	MFSD7	4	676148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14368	676148	190478128	4845	6991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503156.1_Silent_p.L329L|MFSD7_ENST00000515118.1_Silent_p.L297L|MFSD7_ENST00000347950.5_Silent_p.L275L|MFSD7_ENST00000404286.2_Silent_p.L394L			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													18	73					0	0	1	0	0	A	676654	G	A	676654	2	1	22	1	0	0	0	0	0	0	0	1	9587	962	34	2		2	MFSD7	4	676654	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	506	676654	190477622	4846	6992											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000482726.1_3'UTR|PCGF3_ENST00000400151.2_Start_Codon_SNP_p.M1T|PCGF3_ENST00000470161.2_Start_Codon_SNP_p.M1T|PCGF3_ENST00000505655.2_Start_Codon_SNP_p.M1T|PCGF3_ENST00000521023.2_5'UTR	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													78	448					0	0	1	0	0	C	727471	T	C	727471	1	2	22	1	0	0	0	0	0	0	0	0	11623	1464	51	3		3	PCGF3	4	727471	Translation_Start_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	50817	727471	190426805	4847	6993											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000511163.1_Silent_p.S1072S|GAK_ENST00000509566.1_5'UTR	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													77	378					0	0	1	0	0	T	845593	C	T	845593	2	4	22	1	0	0	0	0	0	0	0	1	6235	871	31	1		1	GAK	4	845593	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118122	845593	190308683	4848	6994											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000511163.1_Missense_Mutation_p.A1031V|GAK_ENST00000509566.1_5'UTR	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													43	175					0	0	1	0	0	A	845717	G	A	845717	3	1	22	1	0	0	0	0	1	0	0	0	6235	1203	42	2	622	2	GAK	4	845717	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124	845717	190308559	4849	6995											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000511163.1_Missense_Mutation_p.H921Y|GAK_ENST00000509566.1_5'UTR	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													42	266					0	0	1	0	0	A	860197	G	A	860197	3	1	22	1	0	0	0	0	1	0	0	0	6235	1348	47	2	965	2	GAK	4	860197	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14480	860197	190294079	4850	6996											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	245					0	0	1	0	0	G	871406	A	G	871406	3	3	22	1	0	0	0	0	1	0	0	0	6235	217	8	3	2134	3	GAK	4	871406	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11209	871406	190282870	4851	6997											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	508					0	0	1	0	0	A	877192	G	A	877192	3	1	22	1	0	0	0	0	1	0	0	0	6235	1086	38	1	2684	1	GAK	4	877192	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5786	877192	190277084	4852	6998											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	127					0	0	1	0	0	A	887739	G	A	887739	3	1	22	1	0	0	0	0	1	0	0	0	6235	1087	38	1	3219	1	GAK	4	887739	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10547	887739	190266537	4853	6999											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515740.1_5'UTR|TMEM175_ENST00000508204.1_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													99	421					0	0	1	0	0	T	944245	C	T	944245	3	4	22	1	0	0	0	0	1	0	0	0	16151	527	19	1	239	1	TMEM175	4	944245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56506	944245	190210031	4854	7000											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515740.1_Missense_Mutation_p.L70M|TMEM175_ENST00000508204.1_Missense_Mutation_p.L104M|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													56	221					2.14674e-31	2.52731e-31	1	1	0	A	947071	C	A	947071	3	1	22	1	0	0	0	0	1	0	0	0	16151	680	24	2	582	2	TMEM175	4	947071	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2826	947071	190207205	4855	7001											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515740.1_Missense_Mutation_p.Q336R|TMEM175_ENST00000508204.1_Missense_Mutation_p.Q370R	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													56	267					0	0	1	0	0	G	952124	A	G	952124	3	3	22	1	0	0	0	0	1	0	0	0	16151	188	7	3	1393	3	TMEM175	4	952124	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5053	952124	190202152	4856	7002											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	206					0	0	1	0	0	T	956377	C	T	956377	3	4	22	1	0	0	0	0	1	0	0	0	4501	768	27	1	792	1	DGKQ	4	956377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4253	956377	190197899	4857	7003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	45					0	0	1	0	0	T	962266	C	T	962266	5	4	22	1	0	0	0	0	0	0	1	0	4501	550	19	1	2370	1	DGKQ	4	962266	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5889	962266	190192010	4858	7004											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	86					0	0	1	0	0	A	995495	G	A	995495	2	1	22	1	0	0	0	0	0	0	0	1	7548	1103	39	1		1	IDUA	4	995495	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33229	995495	190158781	4859	7005											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264748.6_Missense_Mutation_p.R426H|FGFRL1_ENST00000510644.1_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													24	126					0	0	1	0	0	A	1018897	G	A	1018897	3	1	22	1	0	0	0	0	1	0	0	0	5902	1087	38	1	1299	1	FGFRL1	4	1018897	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23402	1018897	190135379	4860	7006											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	48	226					0	0	1	0	0	C	1066789	T	C	1066789	3	2	22	1	0	0	0	0	1	0	0	0	13528	1406	49	3	130	3	RNF212	4	1066789	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47892	1066789	190087487	4861	7007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_036577.1	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													20	65					0	0	1	0	0	A	1165096	G	A	1165096	2	1	22	1	0	0	0	0	0	0	0	1	15139	1103	39	1		1	SPON2	4	1165096	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98307	1165096	189989180	4862	7008											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000452175.2_Missense_Mutation_p.A25T|MAEA_ENST00000505839.1_5'UTR|MAEA_ENST00000505177.2_Missense_Mutation_p.A36T|MAEA_ENST00000510794.1_Missense_Mutation_p.A35T|MAEA_ENST00000514708.1_Missense_Mutation_p.A36T|MAEA_ENST00000264750.6_Missense_Mutation_p.A36T	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													52	228					0	0	1	0	0	A	1305803	G	A	1305803	3	1	22	1	0	0	0	0	1	0	0	0	9199	1087	38	1	112	1	MAEA	4	1305803	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140707	1305803	189848473	4863	7009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461064.1_Missense_Mutation_p.A79T|FAM53A_ENST00000489363.1_Missense_Mutation_p.A79T|FAM53A_ENST00000472884.2_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													19	61					0	0	1	0	0	T	1657352	C	T	1657352	3	4	22	1	0	0	0	0	1	0	0	0	5615	768	27	1	969	1	FAM53A	4	1657352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	351549	1657352	189496924	4864	7010											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260795.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000412135.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000352904.1_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000481110.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000440486.2_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				4	53					0	0	1	0	0	T	1801214	C	T	1801214	4	4	22	1	0	0	0	0	0	1	0	0	5900	711	25	2	349	2	FGFR3	4	1801214	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143862	1801214	189353062	4865	7011											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260795.2_Missense_Mutation_p.D318N|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000481110.2_Missense_Mutation_p.D318N|FGFR3_ENST00000340107.4_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				39	186					0	0	1	0	0	A	1805440	G	A	1805440	3	1	22	1	0	0	0	0	1	0	0	0	5900	1058	37	1	1133	1	FGFR3	4	1805440	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4226	1805440	189348836	4866	7012											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260795.2_Silent_p.V356V|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000481110.2_Silent_p.V356V|FGFR3_ENST00000340107.4_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				70	360					0	0	1	0	0	A	1805556	G	A	1805556	2	1	22	1	0	0	0	0	0	0	0	1	5900	1306	46	2		2	FGFR3	4	1805556	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116	1805556	189348720	4867	7013											
FGFR3	2261	broad.mit.edu	37	chr4	1806180	1806181	+	Frame_Shift_Ins	INS	-	-	C													acgctctgccgcctgcgcagINScccccccaagaaaggcctgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1806180_1806181insC	ENST00000340107.4	+	9	1461_1462	c.1205_1206insC	c.(1204-1206)accfs	p.T402fs	FGFR3_ENST00000440486.2_Frame_Shift_Ins_p.T400fs|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000260795.2_Frame_Shift_Ins_p.T400fs|FGFR3_ENST00000481110.2_Frame_Shift_Ins_p.T400fs|FGFR3_ENST00000352904.1_Intron	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	400					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)	CGCCTGCGCAGCCCCCCCAAGA	0.629		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				91	2377	---	---	---	---						C	1806181	-	C	1806180	7	5	22	1	0	1	1	0	0	0	0	0	5900	971	34	0	1384	0	FGFR3	4	1806180	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	624	1806180	189348096	4868	7014											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260795.2_Silent_p.Q547Q|FGFR3_ENST00000412135.2_Silent_p.Q435Q|FGFR3_ENST00000352904.1_Silent_p.Q435Q|FGFR3_ENST00000481110.2_Silent_p.Q548Q|FGFR3_ENST00000440486.2_Silent_p.Q547Q	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				63	291					0	0	1	0	0	A	1807392	G	A	1807392	2	1	22	1	0	0	0	0	0	0	0	1	5900	991	35	2		2	FGFR3	4	1807392	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1212	1807392	189346884	4869	7015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260795.2_Missense_Mutation_p.V700A|FGFR3_ENST00000412135.2_Missense_Mutation_p.V588A|FGFR3_ENST00000352904.1_Missense_Mutation_p.V588A|FGFR3_ENST00000481110.2_Silent_p.C677C|FGFR3_ENST00000440486.2_Missense_Mutation_p.V700A	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				50	174					0	0	1	0	0	C	1808341	T	C	1808341	3	2	22	1	0	0	0	0	1	0	0	0	5900	1696	59	3	2312	3	FGFR3	4	1808341	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	949	1808341	189345935	4870	7016											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	418					0	0	1	0	0	A	1824770	G	A	1824770	3	1	22	1	0	0	0	0	1	0	0	0	8773	1087	38	1	822	1	LETM1	4	1824770	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16429	1824770	189329506	4871	7017											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382891.5_Missense_Mutation_p.A283T|WHSC1_ENST00000514045.1_Missense_Mutation_p.A283T|WHSC1_ENST00000382895.3_Missense_Mutation_p.A283T|WHSC1_ENST00000420906.2_Missense_Mutation_p.A283T|WHSC1_ENST00000382892.2_Missense_Mutation_p.A283T|WHSC1_ENST00000508803.1_Missense_Mutation_p.A283T|WHSC1_ENST00000398261.1_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								64	229					0	0	1	0	0	A	1918684	G	A	1918684	3	1	22	1	0	0	0	0	1	0	0	0	17422	971	34	2	857	2	WHSC1	4	1918684	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93914	1918684	189235592	4872	7018											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	44					0	0	1	0	0	T	2062757	C	T	2062757	2	4	22	1	0	0	0	0	0	0	0	1	10229	796	28	2		2	NAT8L	4	2062757	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144073	2062757	189091519	4873	7019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	139					0	0	1	0	0	A	2065708	G	A	2065708	3	1	22	1	0	0	0	0	1	0	0	0	10229	1087	38	1	773	1	NAT8L	4	2065708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2951	2065708	189088568	4874	7020											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					38	210					0	0	1	0	0	A	2130966	G	A	2130966	3	1	22	1	0	0	0	0	1	0	0	0	12255	942	33	2	931	2	POLN	4	2130966	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65258	2130966	189023310	4875	7021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.G153E|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.G153E	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													43	283					0	0	1	0	0	T	2242216	C	T	2242216	3	4	22	1	0	0	0	0	1	0	0	0	7008	855	30	2	1369	2	HAUS3	4	2242216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111250	2242216	188912060	4876	7022											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	63					0	0	1	0	0	T	2252274	C	T	2252274	2	4	22	1	0	0	0	0	0	0	0	1	10049	523	19	1		1	MXD4	4	2252274	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10058	2252274	188902002	4877	7023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	42					0	0	1	0	0	A	2263663	G	A	2263663	2	1	22	1	0	0	0	0	0	0	0	1	10049	1256	44	2		2	MXD4	4	2263663	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11389	2263663	188890613	4878	7024											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000314289.8_Splice_Site|RNF4_ENST00000511859.1_Splice_Site|RNF4_ENST00000511843.1_Splice_Site|RNF4_ENST00000509258.1_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													10	161					0	0	1	0	0	A	2502385	G	A	2502385	5	1	22	1	0	0	0	0	0	0	1	0	13544	985	34	2	134	2	RNF4	4	2502385	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	238722	2502385	188651891	4879	7025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503235.1_Missense_Mutation_p.Q207H|TNIP2_ENST00000315423.7_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													25	131					9.39395e-14	1.01619e-13	1	1	0	A	2747209	C	A	2747209	3	1	22	1	0	0	0	0	1	0	0	0	16375	680	24	2	684	2	TNIP2	4	2747209	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244824	2747209	188407067	4880	7026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398071.4_Silent_p.R64R|NOP14_ENST00000314262.6_Silent_p.R64R|NOP14_ENST00000502735.1_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													75	287					0	0	1	0	0	T	2964855	C	T	2964855	2	4	22	1	0	0	0	0	0	0	0	1	10583	854	30	2		2	NOP14	4	2964855	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217646	2964855	188189421	4881	7027											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002102.4	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													87	379					0	0	1	0	0	A	3133503	G	A	3133503	5	1	22	1	0	0	0	0	0	0	1	0	7501	1275	44	2	2299	2	HTT	4	3133503	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168648	3133503	188020773	4882	7028											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002102.4	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													44	202					0	0	1	0	0	C	3142376	A	C	3142376	3	2	22	1	0	0	0	0	1	0	0	0	7501	101	4	3	3024	3	HTT	4	3142376	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8873	3142376	188011900	4883	7029											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002102.4	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													100	489					0	0	1	0	0	G	3144596	A	G	3144596	3	3	22	1	0	0	0	0	1	0	0	0	7501	43	2	3	3139	3	HTT	4	3144596	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2220	3144596	188009680	4884	7030											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002102.4	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													53	546					0	0	1	0	0	T	3146887	C	T	3146887	2	4	22	1	0	0	0	0	0	0	0	1	7501	805	28	2		2	HTT	4	3146887	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2291	3146887	188007389	4885	7031											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002102.4	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													31	95					0	0	1	0	0	T	3240630	C	T	3240630	3	4	22	1	0	0	0	0	1	0	0	0	7501	739	26	2	9402	2	HTT	4	3240630	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93743	3240630	187913646	4886	7032											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543385.1_Silent_p.P15P|RGS12_ENST00000344733.5_Silent_p.P15P|RGS12_ENST00000382788.3_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													148	634					0	0	1	0	0	A	3317942	G	A	3317942	2	1	22	1	0	0	0	0	0	0	0	1	13345	1132	40	1		1	RGS12	4	3317942	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77312	3317942	187836334	4887	7033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543385.1_Missense_Mutation_p.E248K|RGS12_ENST00000344733.5_Missense_Mutation_p.E248K|RGS12_ENST00000382788.3_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													19	381					0	0	1	0	0	A	3318639	G	A	3318639	3	1	22	1	0	0	0	0	1	0	0	0	13345	1175	41	2	744	2	RGS12	4	3318639	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	697	3318639	187835637	4888	7034											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543385.1_Missense_Mutation_p.R261H|RGS12_ENST00000344733.5_Missense_Mutation_p.R261H|RGS12_ENST00000382788.3_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													66	265					0	0	1	0	0	A	3318679	G	A	3318679	3	1	22	1	0	0	0	0	1	0	0	0	13345	1087	38	1	784	1	RGS12	4	3318679	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40	3318679	187835597	4889	7035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382788.3_Silent_p.A1278A|RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000344733.5_Silent_p.A1278A|RGS12_ENST00000338806.4_Silent_p.A630A	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													18	78					6.94344e-10	7.33246e-10	1	1	0	A	3432402	C	A	3432402	2	1	22	1	0	0	0	0	0	0	0	1	13345	668	24	2		2	RGS12	4	3432402	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113723	3432402	187721874	4890	7036											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	224					2.95478e-19	3.29235e-19	1	1	0	A	3441290	C	A	3441290	3	1	22	1	0	0	0	0	1	0	0	0	13345	797	28	2	4364	2	RGS12	4	3441290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8888	3441290	187712986	4891	7037											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	96					0	0	1	0	0	T	3446679	C	T	3446679	2	4	22	1	0	0	0	0	0	0	0	1	7127	755	27	1		1	HGFAC	4	3446679	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5389	3446679	187707597	4892	7038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000507039.1_3'UTR|DOK7_ENST00000389653.2_Missense_Mutation_p.A487S|DOK7_ENST00000512714.1_3'UTR	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													17	66					1.56452e-12	1.68123e-12	1	1	0	T	3495172	G	T	3495172	3	4	22	1	0	0	0	0	1	0	0	0	4729	1203	42	2	1485	2	DOK7	4	3495172	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48493	3495172	187659104	4893	7039											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	121					0	0	1	0	0	A	3768871	G	A	3768871	3	1	22	1	0	0	0	0	1	0	0	0	338	1203	42	2	540	2	ADRA2C	4	3768871	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	273699	3768871	187385405	4894	7040											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	105					0	0	1	0	0	A	3768908	G	A	3768908	3	1	22	1	0	0	0	0	1	0	0	0	338	1087	38	1	577	1	ADRA2C	4	3768908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	3768908	187385368	4895	7041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	57					0	0	1	0	0	A	4228393	G	A	4228393	2	1	22	1	0	0	0	0	0	0	0	1	11352	962	34	2		2	OTOP1	4	4228393	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	459485	4228393	186925883	4896	7042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540397.1_Missense_Mutation_p.A118T|TMEM128_ENST00000382753.4_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													27	142					0	0	1	0	0	T	4242094	C	T	4242094	3	4	22	1	0	0	0	0	1	0	0	0	16101	797	28	2	153	2	TMEM128	4	4242094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13701	4242094	186912182	4897	7043											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	100					0	0	1	0	0	G	4421790	A	G	4421790	2	3	22	1	0	0	0	0	0	0	0	1	15397	69	3	3		3	STX18	4	4421790	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	179696	4421790	186732486	4898	7044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													198	927					0	0	1	0	0	A	4864471	G	A	4864471	2	1	22	1	0	0	0	0	0	0	0	1	9943	1045	37	1		1	MSX1	4	4864471	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	442681	4864471	186289805	4899	7045											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	108					4.22769e-11	4.50498e-11	1	1	0	A	5016925	C	A	5016925	4	1	22	1	0	0	0	0	0	1	0	0	4231	864	30	2	50	2	CYTL1	4	5016925	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152454	5016925	186137351	4900	7046											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													153	526					0	0	1	0	0	C	5564829	T	C	5564829	3	2	22	1	0	0	0	0	1	0	0	0	5314	1667	58	3	257	3	EVC2	4	5564829	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	547904	5564829	185589447	4901	7047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	147					0	0	1	0	0	A	5620298	G	A	5620298	2	1	22	1	0	0	0	0	0	0	0	1	5314	1164	41	2		2	EVC2	4	5620298	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55469	5620298	185533978	4902	7048											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	245					0	0	1	0	0	A	5633732	G	A	5633732	3	1	22	1	0	0	0	0	1	0	0	0	5314	1086	38	1	2476	1	EVC2	4	5633732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13434	5633732	185520544	4903	7049											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	192					0	0	1	0	0	T	5803763	C	T	5803763	2	4	22	1	0	0	0	0	0	0	0	1	5313	874	31	1		1	EVC	4	5803763	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170031	5803763	185350513	4904	7050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	226					0	0	1	0	0	T	5857930	C	T	5857930	3	4	22	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	4905	7051											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	212					0	0	1	0	0	T	5966868	C	T	5966868	2	4	22	1	0	0	0	0	0	0	0	1	2291	912	32	2		2	C4orf50	4	5966868	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108938	5966868	185187408	4906	7052											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	320					0	0	1	0	0	T	5975525	C	T	5975525	3	4	22	1	0	0	0	0	1	0	0	0	2291	768	27	1	577	1	C4orf50	4	5975525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8657	5975525	185178751	4907	7053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	214					0	0	1	0	0	T	5977679	C	T	5977679	3	4	22	1	0	0	0	0	1	0	0	0	2291	835	29	2	678	2	C4orf50	4	5977679	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2154	5977679	185176597	4908	7054											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409831.1_Missense_Mutation_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	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													49	200					0	0	1	0	0	T	6080706	C	T	6080706	3	4	22	1	0	0	0	0	1	0	0	0	7984	768	27	1	1364	1	JAKMIP1	4	6080706	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103027	6080706	185073570	4909	7055											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	73					0	0	1	0	0	T	6293694	C	T	6293694	3	4	22	1	0	0	0	0	1	0	0	0	17420	768	27	1	700	1	WFS1	4	6293694	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212988	6293694	184860582	4910	7056											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	513					2.37326e-55	2.96608e-55	1	1	0	T	6302625	G	T	6302625	3	4	22	1	0	0	0	0	1	0	0	0	17420	971	34	2	1129	2	WFS1	4	6302625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8931	6302625	184851651	4911	7057											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	527					0	0	1	0	0	T	6303071	C	T	6303071	3	4	22	1	0	0	0	0	1	0	0	0	17420	652	23	1	1575	1	WFS1	4	6303071	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	446	6303071	184851205	4912	7058											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	624					0	0	1	0	0	T	6303313	C	T	6303313	2	4	22	1	0	0	0	0	0	0	0	1	17420	874	31	1		1	WFS1	4	6303313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	242	6303313	184850963	4913	7059											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	220					0	0	1	0	0	T	6303910	C	T	6303910	2	4	22	1	0	0	0	0	0	0	0	1	17420	535	19	1		1	WFS1	4	6303910	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	597	6303910	184850366	4914	7060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	245					9.45407e-15	1.02924e-14	1	1	0	A	6303932	C	A	6303932	3	1	22	1	0	0	0	0	1	0	0	0	17420	796	28	2	2436	2	WFS1	4	6303932	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	6303932	184850344	4915	7061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	358					0	0	1	0	0	T	6578436	C	T	6578436	2	4	22	1	0	0	0	0	0	0	0	1	9267	506	18	2		2	MAN2B2	4	6578436	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	274504	6578436	184575840	4916	7062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													159	813					0	0	1	0	0	T	6598925	C	T	6598925	2	4	22	1	0	0	0	0	0	0	0	1	9267	639	23	1		1	MAN2B2	4	6598925	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20489	6598925	184555351	4917	7063											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	387					0	0	1	0	0	T	6599013	C	T	6599013	3	4	22	1	0	0	0	0	1	0	0	0	9267	884	31	1	1261	1	MAN2B2	4	6599013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	6599013	184555263	4918	7064											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	388					4.61678e-68	5.85161e-68	1	1	0	T	6862743	G	T	6862743	3	4	22	1	0	0	0	0	1	0	0	0	8205	971	34	2	652	2	KIAA0232	4	6862743	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263730	6862743	184291533	4919	7065											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	407					0	0	1	0	0	A	6863883	G	A	6863883	3	1	22	1	0	0	0	0	1	0	0	0	8205	1175	41	2	1792	2	KIAA0232	4	6863883	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1140	6863883	184290393	4920	7066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	145					0	0	1	0	0	G	6864159	A	G	6864159	3	3	22	1	0	0	0	0	1	0	0	0	8205	43	2	3	2068	3	KIAA0232	4	6864159	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	276	6864159	184290117	4921	7067											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	202					0	0	1	0	0	T	6864270	C	T	6864270	3	4	22	1	0	0	0	0	1	0	0	0	8205	536	19	1	2179	1	KIAA0232	4	6864270	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111	6864270	184290006	4922	7068											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	280					0	0	1	0	0	A	6865260	G	A	6865260	3	1	22	1	0	0	0	0	1	0	0	0	8205	1029	36	2	3169	2	KIAA0232	4	6865260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	990	6865260	184289016	4923	7069											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	336					0	0	1	0	0	A	6925330	G	A	6925330	3	1	22	1	0	0	0	0	1	0	0	0	15660	1175	41	2	216	2	TBC1D14	4	6925330	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60070	6925330	184228946	4924	7070											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446947.2_Silent_p.L81L|TBC1D14_ENST00000448507.1_Silent_p.L468L|TBC1D14_ENST00000410031.1_Silent_p.L240L|TBC1D14_ENST00000451522.2_Silent_p.L188L	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													45	244					0	0	1	0	0	T	7008409	C	T	7008409	2	4	22	1	0	0	0	0	0	0	0	1	15660	564	20	2		2	TBC1D14	4	7008409	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83079	7008409	184145867	4925	7071											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	216					1.00776e-21	1.13667e-21	1	1	0	T	7044246	G	T	7044246	3	4	22	1	0	0	0	0	1	0	0	0	2894	1165	41	2	1251	2	CCDC96	4	7044246	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35837	7044246	184110030	4926	7072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	1053					0	0	1	0	0	T	7062618	C	T	7062618	3	4	22	1	0	0	0	0	1	0	0	0	6847	768	27	1	32	1	GRPEL1	4	7062618	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18372	7062618	184091658	4927	7073											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	456					0	0	1	0	0	T	7062915	C	T	7062915	3	4	22	1	0	0	0	0	1	0	0	0	6847	855	30	2	329	2	GRPEL1	4	7062915	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	297	7062915	184091361	4928	7074											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	81					0	0	1	0	0	T	7705999	C	T	7705999	3	4	22	1	0	0	0	0	1	0	0	0	14985	536	19	1	1910	1	SORCS2	4	7705999	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	643084	7705999	183448277	4929	7075											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	275					0	0	1	0	0	T	7725587	C	T	7725587	3	4	22	1	0	0	0	0	1	0	0	0	14985	768	27	1	2662	1	SORCS2	4	7725587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19588	7725587	183428689	4930	7076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	41					0	0	1	0	0	G	7731317	A	G	7731317	3	3	22	1	0	0	0	0	1	0	0	0	14985	275	10	3	3076	3	SORCS2	4	7731317	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5730	7731317	183422959	4931	7077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361581.5_Silent_p.G248G|ABLIM2_ENST00000505872.1_Silent_p.G248G|ABLIM2_ENST00000361737.5_Silent_p.G248G|ABLIM2_ENST00000447017.2_Silent_p.G248G|ABLIM2_ENST00000546334.1_Silent_p.G248G|ABLIM2_ENST00000341937.5_Silent_p.G248G|ABLIM2_ENST00000514025.1_Silent_p.G5G|ABLIM2_ENST00000407564.3_Silent_p.G248G|ABLIM2_ENST00000545242.1_Silent_p.G248G|ABLIM2_ENST00000296372.8_Silent_p.G248G|ABLIM2_ENST00000428004.2_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													6	40					0	0	1	0	0	A	8062713	G	A	8062713	2	1	22	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	4932	7078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361581.5_Silent_p.A144A|ABLIM2_ENST00000505872.1_Silent_p.A144A|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000361737.5_Silent_p.A144A|ABLIM2_ENST00000447017.2_Silent_p.A144A|ABLIM2_ENST00000546334.1_Silent_p.A144A|ABLIM2_ENST00000341937.5_Silent_p.A144A|ABLIM2_ENST00000407564.3_Silent_p.A144A|ABLIM2_ENST00000545242.1_Silent_p.A144A|ABLIM2_ENST00000428004.2_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													19	121					0	0	1	0	0	T	8089918	C	T	8089918	2	4	22	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	4933	7079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361581.5_Missense_Mutation_p.A21T|ABLIM2_ENST00000505872.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000361737.5_Missense_Mutation_p.A21T|ABLIM2_ENST00000447017.2_Missense_Mutation_p.A21T|ABLIM2_ENST00000546334.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000341937.5_Missense_Mutation_p.A21T|ABLIM2_ENST00000407564.3_Missense_Mutation_p.A21T|ABLIM2_ENST00000545242.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000428004.2_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													20	76					0	0	1	0	0	T	8108314	C	T	8108314	3	4	22	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	4934	7080											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	404					0	0	1	0	0	A	8221133	G	A	8221133	3	1	22	1	0	0	0	0	1	0	0	0	14316	1058	37	1	1018	1	SH3TC1	4	8221133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112819	8221133	182933143	4935	7081											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	103					0	0	1	0	0	A	8228996	G	A	8228996	4	1	22	1	0	0	0	0	0	1	0	0	14316	1212	42	2	1617	2	SH3TC1	4	8228996	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7863	8228996	182925280	4936	7082											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	274					7.41606e-26	8.52628e-26	1	1	0	T	8229700	G	T	8229700	3	4	22	1	0	0	0	0	1	0	0	0	14316	971	34	2	2321	2	SH3TC1	4	8229700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	704	8229700	182924576	4937	7083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	154					1.30998e-17	1.44773e-17	1	1	0	T	8229864	G	T	8229864	3	4	22	1	0	0	0	0	1	0	0	0	14316	971	34	2	2485	2	SH3TC1	4	8229864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	164	8229864	182924412	4938	7084											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	480					0	0	1	0	0	A	8242552	G	A	8242552	3	1	22	1	0	0	0	0	1	0	0	0	14316	1145	40	1	3947	1	SH3TC1	4	8242552	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12688	8242552	182911724	4939	7085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	188					0	0	1	0	0	T	8284228	C	T	8284228	2	4	22	1	0	0	0	0	0	0	0	1	7499	874	31	1		1	HTRA3	4	8284228	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41676	8284228	182870048	4940	7086											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	268					0	0	1	0	0	T	8288479	C	T	8288479	3	4	22	1	0	0	0	0	1	0	0	0	7499	893	31	1	687	1	HTRA3	4	8288479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4251	8288479	182865797	4941	7087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503233.1_Silent_p.P493P|ACOX3_ENST00000413009.2_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													30	108					0	0	1	0	0	A	8390958	G	A	8390958	2	1	22	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	4942	7088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503233.1_Missense_Mutation_p.A362T|ACOX3_ENST00000413009.2_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													35	115					0	0	1	0	0	T	8396442	C	T	8396442	3	4	22	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	4943	7089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000315782.6_Silent_p.T459T|CPZ_ENST00000360986.4_Silent_p.T470T|CPZ_ENST00000382480.2_Silent_p.T333T			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													75	337					0	0	1	0	0	A	8616132	G	A	8616132	2	1	22	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	4944	7090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000315782.6_Missense_Mutation_p.R518H|CPZ_ENST00000360986.4_Missense_Mutation_p.R529H|CPZ_ENST00000382480.2_Missense_Mutation_p.R392H			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													6	189					0	0	1	0	0	A	8620238	G	A	8620238	3	1	22	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	4945	7091											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	291					0	0	1	0	0	T	9998463	C	T	9998463	3	4	22	1	0	0	0	0	1	0	0	0	14607	768	27	1	1310	1	SLC2A9	4	9998463	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1378225	9998463	181155813	4946	7092											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	186					1.32667e-27	1.53764e-27	1	1	0	A	10027631	C	A	10027631	5	1	22	1	0	0	0	0	0	0	1	0	14607	927	32	2		2	SLC2A9	4	10027631	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29168	10027631	181126645	4947	7093											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000499869.2_Missense_Mutation_p.V460A|WDR1_ENST00000382451.2_Missense_Mutation_p.V320A|WDR1_ENST00000502702.1_Missense_Mutation_p.V320A|WDR1_ENST00000515743.1_5'UTR	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													44	191					0	0	1	0	0	G	10080531	A	G	10080531	3	3	22	1	0	0	0	0	1	0	0	0	17332	159	6	3	457	3	WDR1	4	10080531	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52900	10080531	181073745	4948	7094											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000499869.2_Silent_p.T164T|WDR1_ENST00000382451.2_Intron|WDR1_ENST00000502702.1_Intron	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													49	201					0	0	1	0	0	T	10099401	C	T	10099401	2	4	22	1	0	0	0	0	0	0	0	1	17332	639	23	1		1	WDR1	4	10099401	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18870	10099401	181054875	4949	7095											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000499869.2_Missense_Mutation_p.Y96C|WDR1_ENST00000382451.2_Intron|WDR1_ENST00000502702.1_Intron	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													55	374					0	0	1	0	0	C	10100706	T	C	10100706	3	2	22	1	0	0	0	0	1	0	0	0	17332	1406	49	3	1581	3	WDR1	4	10100706	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1305	10100706	181053570	4950	7096											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	307					0	0	1	0	0	A	10445398	G	A	10445398	3	1	22	1	0	0	0	0	1	0	0	0	18020	971	34	2	673	2	ZNF518B	4	10445398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	344692	10445398	180708878	4951	7097											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	184					0	0	1	0	0	A	11400937	G	A	11400937	2	1	22	1	0	0	0	0	0	0	0	1	7404	1045	37	1		1	HS3ST1	4	11400937	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	955539	11400937	179753339	4952	7098											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	243					0	0	1	0	0	T	11401429	C	T	11401429	2	4	22	1	0	0	0	0	0	0	0	1	7404	755	27	1		1	HS3ST1	4	11401429	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	492	11401429	179752847	4953	7099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000288723.4_3'UTR|RAB28_ENST00000338176.4_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													50	269					0	0	1	0	0	G	13370206	T	G	13370206	3	3	22	1	0	0	0	0	1	0	0	0	12968	1780	62	3	27	3	RAB28	4	13370206	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1968777	13370206	177784070	4954	7100											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330852.5_Intron|RAB28_ENST00000338176.4_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													75	297					0	0	1	0	0	G	13371502	A	G	13371502	4	3	22	1	0	0	0	0	0	0	0	0	12968	404	14	3	102	3	RAB28	4	13371502	Nonstop_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1296	13371502	177782774	4955	7101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*|CPEB2_ENST00000382401.3_Nonsense_Mutation_p.Q362*|CPEB2_ENST00000382395.3_Nonsense_Mutation_p.Q367*|CPEB2_ENST00000345451.3_Nonsense_Mutation_p.Q359*|CPEB2_ENST00000541112.1_Nonsense_Mutation_p.Q826*|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000259997.5_Nonsense_Mutation_p.Q397*|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000442003.2_Nonsense_Mutation_p.Q807*	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													51	281					0	0	1	0	0	T	15060083	C	T	15060083	4	4	22	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	4956	7102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	296					0	0	1	0	0	G	15437372	T	G	15437372	3	3	22	1	0	0	0	0	1	0	0	0	1981	1841	64	3	32	3	C1QTNF7	4	15437372	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	377289	15437372	175716904	4957	7103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413206.1_Missense_Mutation_p.K507N|CC2D2A_ENST00000503292.1_Missense_Mutation_p.K507N|CC2D2A_ENST00000389652.5_Missense_Mutation_p.K458N|CC2D2A_ENST00000513811.1_3'UTR			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													11	72					1.08611e-07	1.12939e-07	1	1	0	T	15534870	G	T	15534870	3	4	22	1	0	0	0	0	1	0	0	0	2746	933	33	2	1774	2	CC2D2A	4	15534870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97498	15534870	175619406	4958	7104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15780058C>T	ENST00000226279.2	+	1	158	c.21C>T	c.(19-21)agC>agT	p.S7S		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	7					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													125	526					0	0	1	0	0	T	15780058	C	T	15780058	2	4	22	1	0	0	0	0	0	0	0	1	3031	738	26	2		2	CD38	4	15780058	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	245188	15780058	175374218	4959	7105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15842113C>T	ENST00000226279.2	+	7	928	c.791C>T	c.(790-792)tCg>tTg	p.S264L		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	264					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													89	478					0	0	1	0	0	T	15842113	C	T	15842113	3	4	22	1	0	0	0	0	1	0	0	0	3031	893	31	1	817	1	CD38	4	15842113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62055	15842113	175312163	4960	7106											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													137	638					0	0	1	0	0	C	15937605	A	C	15937605	2	2	22	1	0	0	0	0	0	0	0	1	5893	59	3	3		3	FGFBP1	4	15937605	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	95492	15937605	175216671	4961	7107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	979					0	0	1	0	0	T	15964245	C	T	15964245	3	4	22	1	0	0	0	0	1	0	0	0	5894	864	30	2	167	2	FGFBP2	4	15964245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26640	15964245	175190031	4962	7108											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	278					0	0	1	0	0	T	15964616	C	T	15964616	3	4	22	1	0	0	0	0	1	0	0	0	5894	536	19	1	538	1	FGFBP2	4	15964616	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	371	15964616	175189660	4963	7109											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	41					4.36969e-10	4.6211e-10	1	1	0	T	16192999	G	T	16192999	2	4	22	1	0	0	0	0	0	0	0	1	15611	932	33	2		2	TAPT1	4	16192999	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	228383	16192999	174961277	4964	7110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428702.2_Intron|QDPR_ENST00000513615.1_Missense_Mutation_p.D58N|QDPR_ENST00000508623.1_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													36	169					0	0	1	0	0	T	17510920	C	T	17510920	3	4	22	1	0	0	0	0	1	0	0	0	12924	913	32	2	586	2	QDPR	4	17510920	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1317921	17510920	173643356	4965	7111											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	139					0	0	1	0	0	A	17583965	G	A	17583965	3	1	22	1	0	0	0	0	1	0	0	0	8662	1059	37	1	342	1	LAP3	4	17583965	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73045	17583965	173570311	4966	7112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000326877.3_3'UTR	NM_022346.3	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													99	405					0	0	1	0	0	A	17844978	G	A	17844978	3	1	22	1	0	0	0	0	1	0	0	0	10254	1058	37	1	3060	1	NCAPG	4	17844978	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	261013	17844978	173309298	4967	7113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17910775C>T	ENST00000382226.5	-	5	732	c.624G>A	c.(622-624)gaG>gaA	p.E208E	LCORL_ENST00000382224.1_Silent_p.E124E|LCORL_ENST00000539056.1_Silent_p.E121E|LCORL_ENST00000326877.3_Silent_p.E208E	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						GGCCTTCCTGCTCTTCCTGAA	0.348													96	438					0	0	1	0	0	T	17910775	C	T	17910775	2	4	22	1	0	0	0	0	0	0	0	1	8729	796	28	2		2	LCORL	4	17910775	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65797	17910775	173243501	4968	7114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17963615G>A	ENST00000382226.5	-	4	449	c.341C>T	c.(340-342)aCa>aTa	p.T114I	LCORL_ENST00000512376.2_5'UTR|LCORL_ENST00000382224.1_Missense_Mutation_p.T30I|LCORL_ENST00000539056.1_Missense_Mutation_p.T27I|LCORL_ENST00000326877.3_Missense_Mutation_p.T114I	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TAGCTCCTCTGTTGGTGTTGA	0.348													40	208					0	0	1	0	0	A	17963615	G	A	17963615	3	1	22	1	0	0	0	0	1	0	0	0	8729	1377	48	2	1668	2	LCORL	4	17963615	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52840	17963615	173190661	4969	7115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503837.1_Missense_Mutation_p.V733F|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503823.1_Missense_Mutation_p.V729F|SLIT2_ENST00000273739.5_Missense_Mutation_p.V741F	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													259	1091					6.08379e-84	7.79258e-84	1	1	0	T	20544182	G	T	20544182	3	4	22	1	0	0	0	0	1	0	0	0	14794	1029	36	2	2291	2	SLIT2	4	20544182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2580567	20544182	170610094	4970	7116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503837.1_Silent_p.T787T|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503823.1_Silent_p.T783T|SLIT2_ENST00000273739.5_Silent_p.T795T	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													43	187					0	0	1	0	0	A	20550138	G	A	20550138	2	1	22	1	0	0	0	0	0	0	0	1	14794	1074	38	1		1	SLIT2	4	20550138	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5956	20550138	170604138	4971	7117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503837.1_Missense_Mutation_p.R881C|SLIT2_ENST00000503823.1_Missense_Mutation_p.R877C|SLIT2_ENST00000273739.5_Missense_Mutation_p.R889C	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													10	545					0	0	1	0	0	T	20555519	C	T	20555519	3	4	22	1	0	0	0	0	1	0	0	0	14794	884	31	1	2755	1	SLIT2	4	20555519	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5381	20555519	170598757	4972	7118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503837.1_Missense_Mutation_p.P906H|SLIT2_ENST00000503823.1_Missense_Mutation_p.P902H|SLIT2_ENST00000273739.5_Missense_Mutation_p.P914H	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													151	659					1.87815e-66	2.37702e-66	1	1	0	A	20568888	C	A	20568888	3	1	22	1	0	0	0	0	1	0	0	0	14794	681	24	2	2835	2	SLIT2	4	20568888	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13369	20568888	170585388	4973	7119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503837.1_Missense_Mutation_p.N1083S|SLIT2_ENST00000503823.1_Missense_Mutation_p.N1079S|SLIT2_ENST00000273739.5_Missense_Mutation_p.N1100S	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													10	663					0	0	1	0	0	G	20597397	A	G	20597397	3	3	22	1	0	0	0	0	1	0	0	0	14794	43	2	3	3382	3	SLIT2	4	20597397	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28509	20597397	170556879	4974	7120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503837.1_Silent_p.L1206L|SLIT2_ENST00000503823.1_Silent_p.L1202L|SLIT2_ENST00000273739.5_Silent_p.L1223L	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													126	496					1.81975e-59	2.28519e-59	1	1	0	A	20599956	C	A	20599956	2	1	22	1	0	0	0	0	0	0	0	1	14794	900	32	2		2	SLIT2	4	20599956	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2559	20599956	170554320	4975	7121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000502938.1_Missense_Mutation_p.E49A|PACRGL_ENST00000507634.1_Missense_Mutation_p.E49A|PACRGL_ENST00000444671.2_Missense_Mutation_p.E49A|PACRGL_ENST00000295290.8_Missense_Mutation_p.E49A|PACRGL_ENST00000513459.1_Missense_Mutation_p.E49A|PACRGL_ENST00000502374.1_Missense_Mutation_p.E49A|PACRGL_ENST00000538990.1_Missense_Mutation_p.E49A|PACRGL_ENST00000503585.1_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													87	417					0	0	1	0	0	C	20706376	A	C	20706376	3	2	22	1	0	0	0	0	1	0	0	0	11418	304	11	3	152	3	PACRGL	4	20706376	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	106420	20706376	170447900	4976	7122											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382150.4_Missense_Mutation_p.A110V|KCNIP4_ENST00000447367.2_Missense_Mutation_p.A97V|KCNIP4_ENST00000382152.2_Missense_Mutation_p.A131V|KCNIP4_ENST00000359001.5_Missense_Mutation_p.A69V|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													36	156					0	0	1	0	0	A	20751322	G	A	20751322	3	1	22	1	0	0	0	0	1	0	0	0	8086	1319	46	2	380	2	KCNIP4	4	20751322	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44946	20751322	170402954	4977	7123											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382150.4_Missense_Mutation_p.R46M|KCNIP4_ENST00000447367.2_Missense_Mutation_p.R33M|KCNIP4_ENST00000382152.2_Missense_Mutation_p.R67M|KCNIP4_ENST00000359001.5_Missense_Mutation_p.R5M|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													12	278					1.08611e-07	1.12939e-07	1	1	0	A	20852254	C	A	20852254	3	1	22	1	0	0	0	0	1	0	0	0	8086	681	24	2	580	2	KCNIP4	4	20852254	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100932	20852254	170302022	4978	7124											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_145290.2	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													55	262					1.4374e-25	1.6504e-25	1	1	0	A	22390256	C	A	22390256	3	1	22	1	0	0	0	0	1	0	0	0	6679	623	22	2	931	2	GPR125	4	22390256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1538002	22390256	168764020	4979	7125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_145290.2	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													100	425					0	0	1	0	0	G	22390383	T	G	22390383	3	3	22	1	0	0	0	0	1	0	0	0	6679	1841	64	3	1058	3	GPR125	4	22390383	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	127	22390383	168763893	4980	7126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_145290.2	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													106	1087					0	0	1	0	0	T	22390718	C	T	22390718	3	4	22	1	0	0	0	0	1	0	0	0	6679	768	27	1	1257	1	GPR125	4	22390718	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	335	22390718	168763558	4981	7127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_145290.2	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													21	863					0	0	1	0	0	T	22414813	C	T	22414813	3	4	22	1	0	0	0	0	1	0	0	0	6679	565	20	2	1765	2	GPR125	4	22414813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24095	22414813	168739463	4982	7128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_145290.2	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													90	453					0	0	1	0	0	T	22414965	C	T	22414965	3	4	22	1	0	0	0	0	1	0	0	0	6679	536	19	1	1917	1	GPR125	4	22414965	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152	22414965	168739311	4983	7129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_145290.2	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													38	1183					1.30897e-18	1.45408e-18	1	1	0	A	22422568	C	A	22422568	3	1	22	1	0	0	0	0	1	0	0	0	6679	855	30	2	2247	2	GPR125	4	22422568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7603	22422568	168731708	4984	7130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_145290.2	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													5	196					0	0	1	0	0	T	22425825	C	T	22425825	3	4	22	1	0	0	0	0	1	0	0	0	6679	536	19	1	2407	1	GPR125	4	22425825	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3257	22425825	168728451	4985	7131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22737808C>T	ENST00000511446.1	+	0	266				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_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	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													126	534					0	0	1	0	0	T	22737808	C	T	22737808	1	4	22	0	1	0	0	0	0	0	0	0	6308	536	19	1		1	GBA3	4	22737808	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	311983	22737808	168416468	4986	7132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22749357C>A	ENST00000511446.1	+	0	728				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_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						GACCAGGAAGCTGCTAAAAGA	0.428													118	523					1.47488e-52	1.83463e-52	1	1	0	A	22749357	C	A	22749357	1	1	22	0	1	0	0	0	0	0	0	0	6308	797	28	2		2	GBA3	4	22749357	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11549	22749357	168404919	4987	7133											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22820391C>T	ENST00000511446.1	+	0	1258				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508264.1_RNA|GBA3_ENST00000508166.1_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						TGCATGGTCTCTTCTGGATAA	0.413													6	142					0	0	1	0	0	T	22820391	C	T	22820391	1	4	22	0	1	0	0	0	0	0	0	0	6308	913	32	2		2	GBA3	4	22820391	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71034	22820391	168333885	4988	7134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	255					0	0	1	0	0	A	23815376	G	A	23815376	3	1	22	1	0	0	0	0	1	0	0	0	12345	1059	37	1	690	1	PPARGC1A	4	23815376	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	994985	23815376	167338900	4989	7135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	511					0	0	1	0	0	T	23815518	A	T	23815518	3	4	22	1	0	0	0	0	1	0	0	0	12345	333	12	5	832	5	PPARGC1A	4	23815518	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	142	23815518	167338758	4990	7136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	513					0	0	1	0	0	T	23833186	C	T	23833186	2	4	22	1	0	0	0	0	0	0	0	1	12345	523	19	1		1	PPARGC1A	4	23833186	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17668	23833186	167321090	4991	7137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	103					0	0	1	0	0	C	24538792	T	C	24538792	2	2	22	1	0	0	0	0	0	0	0	1	4529	1683	59	3		3	DHX15	4	24538792	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	705606	24538792	166615484	4992	7138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	199					0	0	1	0	0	T	24543646	C	T	24543646	5	4	22	1	0	0	0	0	0	0	1	0	4529	695	24	2	1080	2	DHX15	4	24543646	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4854	24543646	166610630	4993	7139											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	228					0	0	1	0	0	T	24578221	C	T	24578221	3	4	22	1	0	0	0	0	1	0	0	0	4529	884	31	1	2287	1	DHX15	4	24578221	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34575	24578221	166576055	4994	7140											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	131					0	0	1	0	0	G	25363599	A	G	25363599	3	3	22	1	0	0	0	0	1	0	0	0	17648	391	14	3	1164	3	ZCCHC4	4	25363599	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	785378	25363599	165790677	4995	7141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	302					0	0	1	0	0	G	25370758	A	G	25370758	3	3	22	1	0	0	0	0	1	0	0	0	17648	246	9	3	1564	3	ZCCHC4	4	25370758	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7159	25370758	165783518	4996	7142											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	184					0	0	1	0	0	T	25390499	C	T	25390499	2	4	22	1	0	0	0	0	0	0	0	1	600	535	19	1		1	ANAPC4	4	25390499	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19741	25390499	165763777	4997	7143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	234					2.13384e-23	2.42615e-23	1	1	0	A	25393972	C	A	25393972	3	1	22	1	0	0	0	0	1	0	0	0	600	912	32	2	752	2	ANAPC4	4	25393972	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3473	25393972	165760304	4998	7144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	253					1.38909e-20	1.55765e-20	1	1	0	A	25418146	C	A	25418146	2	1	22	1	0	0	0	0	0	0	0	1	600	842	30	2		2	ANAPC4	4	25418146	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24174	25418146	165736130	4999	7145											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	324					0	0	1	0	0	G	25418162	T	G	25418162	3	3	22	1	0	0	0	0	1	0	0	0	600	1838	64	3	2119	3	ANAPC4	4	25418162	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16	25418162	165736114	5000	7146											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_006415.2	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								122	568					0	0	1	0	0	T	25671453	C	T	25671453	3	4	22	1	0	0	0	0	1	0	0	0	14623	797	28	2	842	2	SLC34A2	4	25671453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	253291	25671453	165482823	5001	7147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_006415.2	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								27	188					0	0	1	0	0	A	25672428	G	A	25672428	2	1	22	1	0	0	0	0	0	0	0	1	14623	933	33	2		2	SLC34A2	4	25672428	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	975	25672428	165481848	5002	7148											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_006415.2	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								14	506					2.31682e-05	2.36778e-05	1	1	0	A	25674748	C	A	25674748	3	1	22	1	0	0	0	0	1	0	0	0	14623	797	28	2	1122	2	SLC34A2	4	25674748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2320	25674748	165479528	5003	7149											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_006415.2	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								35	196					0	0	1	0	0	A	25677760	G	A	25677760	3	1	22	1	0	0	0	0	1	0	0	0	14623	1087	38	1	1508	1	SLC34A2	4	25677760	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3012	25677760	165476516	5004	7150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_006415.2	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								92	384					0	0	1	0	0	A	25678117	G	A	25678117	3	1	22	1	0	0	0	0	1	0	0	0	14623	1145	40	1	1865	1	SLC34A2	4	25678117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	357	25678117	165476159	5005	7151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_006415.2	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								52	244					0	0	1	0	0	A	25678182	G	A	25678182	2	1	22	1	0	0	0	0	0	0	0	1	14623	1132	40	1		1	SLC34A2	4	25678182	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65	25678182	165476094	5006	7152											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000502949.1_Missense_Mutation_p.V425F|SEL1L3_ENST00000264868.5_Missense_Mutation_p.V543F	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													15	84					1.05317e-09	1.11087e-09	1	1	0	A	25806207	C	A	25806207	3	1	22	1	0	0	0	0	1	0	0	0	14066	565	20	2	1726	2	SEL1L3	4	25806207	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128025	25806207	165348069	5007	7153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000502949.1_Missense_Mutation_p.S226N|SEL1L3_ENST00000264868.5_Missense_Mutation_p.S344N	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													16	74					0	0	1	0	0	T	25831741	C	T	25831741	3	4	22	1	0	0	0	0	1	0	0	0	14066	797	28	2	2338	2	SEL1L3	4	25831741	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25534	25831741	165322535	5008	7154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361572.6_Nonsense_Mutation_p.G106*|RBPJ_ENST00000348160.4_Nonsense_Mutation_p.G93*|RBPJ_ENST00000507561.1_Nonsense_Mutation_p.G71*|RBPJ_ENST00000355476.3_Nonsense_Mutation_p.G92*|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000504907.1_Nonsense_Mutation_p.G92*|RBPJ_ENST00000342295.1_Nonsense_Mutation_p.G106*|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													144	665					8.174e-68	1.03582e-67	1	1	0	T	26417218	G	T	26417218	4	4	22	1	0	0	0	0	0	1	0	0	13213	1001	35	2	393	2	RBPJ	4	26417218	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	585477	26417218	164737058	5009	7155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361572.6_Missense_Mutation_p.S281A|RBPJ_ENST00000348160.4_Missense_Mutation_p.S268A|RBPJ_ENST00000507561.1_Missense_Mutation_p.S246A|RBPJ_ENST00000355476.3_Missense_Mutation_p.S267A|RBPJ_ENST00000504907.1_Missense_Mutation_p.S267A|RBPJ_ENST00000342295.1_Missense_Mutation_p.S281A|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													36	149					0	0	1	0	0	G	26430396	T	G	26430396	3	3	22	1	0	0	0	0	1	0	0	0	13213	1667	58	3	934	3	RBPJ	4	26430396	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13178	26430396	164723880	5010	7156											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	748					3.60193e-44	4.40587e-44	1	1	0	A	26483316	C	A	26483316	3	1	22	1	0	0	0	0	1	0	0	0	2900	797	28	2	59	2	CCKAR	4	26483316	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52920	26483316	164670960	5011	7157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	459					0	0	1	0	0	G	26483762	T	G	26483762	3	3	22	1	0	0	0	0	1	0	0	0	2900	1841	64	3	505	3	CCKAR	4	26483762	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	446	26483762	164670514	5012	7158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	158					0	0	1	0	0	T	26491823	C	T	26491823	3	4	22	1	0	0	0	0	1	0	0	0	2900	893	31	1	1239	1	CCKAR	4	26491823	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8061	26491823	164662453	5013	7159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	341					0	0	1	0	0	C	26638889	T	C	26638889	2	2	22	1	0	0	0	0	0	0	0	1	15664	1635	57	3		3	TBC1D19	4	26638889	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	147066	26638889	164515387	5014	7160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	73					0	0	1	0	0	C	30723931	T	C	30723931	3	2	22	1	0	0	0	0	1	0	0	0	11563	1667	58	3	889	3	PCDH7	4	30723931	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4085042	30723931	160430345	5015	7161											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	673					0	0	1	0	0	T	30725148	C	T	30725148	3	4	22	1	0	0	0	0	1	0	0	0	11563	643	23	1	2106	1	PCDH7	4	30725148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1217	30725148	160429128	5016	7162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:36118684C>T	ENST00000303965.4	-	25	4526	c.4038_splice	c.e25+1	p.R1346_splice		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													19	107					0	0	1	0	0	T	36118684	C	T	36118684	5	4	22	1	0	0	0	0	0	0	1	0	836	666	23	1	1113	1	ARAP2	4	36118684	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5393536	36118684	155035592	5017	7163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Silent_p.T231T	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													36	176					0	0	1	0	0	A	37592370	G	A	37592370	2	1	22	1	0	0	0	0	0	0	0	1	2268	1074	38	1		1	C4orf19	4	37592370	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1473686	37592370	153561906	5018	7164											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	315					0	0	1	0	0	A	38798201	G	A	38798201	3	1	22	1	0	0	0	0	1	0	0	0	16009	1203	42	2	112	2	TLR1	4	38798201	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1205831	38798201	152356075	5019	7165											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	350					5.04879e-28	5.86081e-28	1	1	0	T	38800334	G	T	38800334	3	4	22	1	0	0	0	0	1	0	0	0	16009	1000	35	2	2245	2	TLR1	4	38800334	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2133	38800334	152353942	5020	7166											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	146					4.93089e-13	5.31412e-13	1	1	0	T	38800423	G	T	38800423	2	4	22	1	0	0	0	0	0	0	0	1	16009	932	33	2		2	TLR1	4	38800423	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89	38800423	152353853	5021	7167											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													131	572					4.21061e-56	5.26708e-56	1	1	0	A	38829804	C	A	38829804	3	1	22	1	0	0	0	0	1	0	0	0	16015	565	20	2	1103	2	TLR6	4	38829804	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29381	38829804	152324472	5022	7168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	203					0	0	1	0	0	G	39191347	T	G	39191347	1	3	22	1	0	0	0	0	0	0	0	0	17339	1493	52	3		3	WDR19	4	39191347	Translation_Start_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	361543	39191347	151962929	5023	7169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000288634.7_Missense_Mutation_p.R317C|WDR19_ENST00000506503.1_Silent_p.A475A	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													32	969					0	0	1	0	0	T	39219675	C	T	39219675	3	4	22	1	0	0	0	0	1	0	0	0	17339	652	23	1	1483	1	WDR19	4	39219675	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28328	39219675	151934601	5024	7170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													155	647					9.91784e-70	1.25895e-69	1	1	0	A	39291557	C	A	39291557	3	1	22	1	0	0	0	0	1	0	0	0	13296	855	30	2	180	2	RFC1	4	39291557	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71882	39291557	151862719	5025	7171											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													164	755					0	0	1	0	0	T	39310294	C	T	39310294	3	4	22	1	0	0	0	0	1	0	0	0	13296	884	31	1	1648	1	RFC1	4	39310294	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18737	39310294	151843982	5026	7172											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	243					0	0	1	0	0	A	39322915	G	A	39322915	3	1	22	1	0	0	0	0	1	0	0	0	13296	1000	35	2	2715	2	RFC1	4	39322915	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12621	39322915	151831361	5027	7173											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	392					0	0	1	0	0	T	39436299	C	T	39436299	3	4	22	1	0	0	0	0	1	0	0	0	8375	739	26	2	1301	2	KLB	4	39436299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113384	39436299	151717977	5028	7174											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	308					0	0	1	0	0	G	39448080	T	G	39448080	3	3	22	1	0	0	0	0	1	0	0	0	8375	1490	52	3	1748	3	KLB	4	39448080	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11781	39448080	151706196	5029	7175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000501493.2_Missense_Mutation_p.N38D|UGDH_ENST00000507089.1_Intron|UGDH_ENST00000506179.1_Missense_Mutation_p.N38D|UGDH_ENST00000515398.1_Intron	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													98	404					0	0	1	0	0	C	39523021	T	C	39523021	3	2	22	1	0	0	0	0	1	0	0	0	17000	1812	63	3	1416	3	UGDH	4	39523021	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	74941	39523021	151631255	5030	7176											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	172					0	0	1	0	0	A	39839590	G	A	39839590	3	1	22	1	0	0	0	0	1	0	0	0	11738	971	34	2	125	2	PDS5A	4	39839590	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	316569	39839590	151314686	5031	7177											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	459					0	0	1	0	0	G	40103869	A	G	40103869	3	3	22	1	0	0	0	0	1	0	0	0	10158	275	10	3	410	3	N4BP2	4	40103869	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	264279	40103869	151050407	5032	7178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	401					0	0	1	0	0	A	40104536	G	A	40104536	2	1	22	1	0	0	0	0	0	0	0	1	10158	1074	38	1		1	N4BP2	4	40104536	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	667	40104536	151049740	5033	7179											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	201					3.09479e-21	3.48195e-21	1	1	0	T	40122325	G	T	40122325	3	4	22	1	0	0	0	0	1	0	0	0	10158	971	34	2	2620	2	N4BP2	4	40122325	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17789	40122325	151031951	5034	7180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	310					0	0	1	0	0	T	40122738	C	T	40122738	3	4	22	1	0	0	0	0	1	0	0	0	10158	739	26	2	3033	2	N4BP2	4	40122738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	413	40122738	151031538	5035	7181											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	225					0	0	1	0	0	A	40138628	G	A	40138628	3	1	22	1	0	0	0	0	1	0	0	0	10158	1029	36	2	4757	2	N4BP2	4	40138628	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15890	40138628	151015648	5036	7182											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	239					2.68985e-26	3.09749e-26	1	1	0	T	40154517	G	T	40154517	3	4	22	1	0	0	0	0	1	0	0	0	10158	971	34	2	5319	2	N4BP2	4	40154517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15889	40154517	150999759	5037	7183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40245060C>A	ENST00000381799.4	+	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_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	18					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													58	275					3.40165e-17	3.75177e-17	1	1	0	A	40245060	C	A	40245060	2	1	22	1	0	0	0	0	0	0	0	1	13390	668	24	2		2	RHOH	4	40245060	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90543	40245060	150909216	5038	7184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40245403G>T	ENST00000381799.4	+	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_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	133					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													53	274					3.07002e-29	3.58444e-29	1	1	0	T	40245403	G	T	40245403	3	4	22	1	0	0	0	0	1	0	0	0	13390	1319	46	2	399	2	RHOH	4	40245403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	343	40245403	150908873	5039	7185											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													279	1276					0	0	1	0	0	T	40351187	C	T	40351187	2	4	22	1	0	0	0	0	0	0	0	1	3411	784	28	2		2	CHRNA9	4	40351187	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105784	40351187	150803089	5040	7186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381793.2_Silent_p.T244T|RBM47_ENST00000295971.7_Silent_p.T244T|RBM47_ENST00000381795.6_Silent_p.T244T|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Silent_p.T206T			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													115	503					0	0	1	0	0	A	40440179	G	A	40440179	2	1	22	1	0	0	0	0	0	0	0	1	13193	1103	39	1		1	RBM47	4	40440179	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88992	40440179	150714097	5041	7187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381793.2_Silent_p.G177G|RBM47_ENST00000295971.7_Silent_p.G177G|RBM47_ENST00000381795.6_Silent_p.G177G|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Silent_p.G139G			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													34	633					0	0	1	0	0	A	40440380	G	A	40440380	2	1	22	1	0	0	0	0	0	0	0	1	13193	1074	38	1		1	RBM47	4	40440380	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201	40440380	150713896	5042	7188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381793.2_Missense_Mutation_p.L131I|RBM47_ENST00000295971.7_Missense_Mutation_p.L131I|RBM47_ENST00000381795.6_Missense_Mutation_p.L131I|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.L93I			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													25	343					2.98393e-07	3.0958e-07	1	1	0	T	40440520	G	T	40440520	3	4	22	1	0	0	0	0	1	0	0	0	13193	971	34	2	1406	2	RBM47	4	40440520	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140	40440520	150713756	5043	7189	42	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381793.2_Missense_Mutation_p.R129C|RBM47_ENST00000295971.7_Missense_Mutation_p.R129C|RBM47_ENST00000381795.6_Missense_Mutation_p.R129C|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.R91C			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													64	312					0	0	1	0	0	A	40440526	G	A	40440526	3	1	22	1	0	0	0	0	1	0	0	0	13193	1087	38	1	1412	1	RBM47	4	40440526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6	40440526	150713750	5044	7190	42	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000463952.1_3'UTR|NSUN7_ENST00000316607.5_Missense_Mutation_p.K223N	NM_024677.4	NP_078953.3			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													27	354					8.58068e-18	9.49213e-18	1	1	0	T	40776811	G	T	40776811	3	4	22	1	0	0	0	0	1	0	0	0	10731	933	33	2	687	2	NSUN7	4	40776811	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	336285	40776811	150377465	5045	7191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000463952.1_3'UTR|NSUN7_ENST00000316607.5_Silent_p.K258K	NM_024677.4	NP_078953.3			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													35	144					0	0	1	0	0	G	40776916	A	G	40776916	2	3	22	1	0	0	0	0	0	0	0	1	10731	11	1	3		3	NSUN7	4	40776916	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	105	40776916	150377360	5046	7192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508593.1_Nonsense_Mutation_p.R530*|APBB2_ENST00000513140.1_Nonsense_Mutation_p.R508*|APBB2_ENST00000543538.1_5'UTR|APBB2_ENST00000504305.1_5'UTR|APBB2_ENST00000502841.1_5'UTR	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													57	330					0	0	1	0	0	A	40832536	G	A	40832536	4	1	22	1	0	0	0	0	0	1	0	0	757	1066	37	1	715	1	APBB2	4	40832536	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55620	40832536	150321740	5047	7193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				74	451					0	0	1	0	0	A	41749444	G	A	41749444	2	1	22	1	0	0	0	0	0	0	0	1	11907	1049	37	1		1	PHOX2B	4	41749444	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	916908	41749444	149404832	5048	7194											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													143	639					3.68518e-59	4.62544e-59	1	1	0	T	42403028	G	T	42403028	5	4	22	1	0	0	0	0	0	0	1	0	14336	956	33	2	283	2	SHISA3	4	42403028	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	653584	42403028	148751248	5049	7195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													296	1177					0	0	1	0	0	T	42403101	C	T	42403101	3	4	22	1	0	0	0	0	1	0	0	0	14336	797	28	2	356	2	SHISA3	4	42403101	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73	42403101	148751175	5050	7196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	374					0	0	1	0	0	A	42416721	G	A	42416721	3	1	22	1	0	0	0	0	1	0	0	0	1190	1087	38	1	182	1	ATP8A1	4	42416721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13620	42416721	148737555	5051	7197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	477					4.85238e-36	5.80295e-36	1	1	0	A	42577717	C	A	42577717	5	1	22	1	0	0	0	0	0	0	1	0	1190	695	24	2	2466	2	ATP8A1	4	42577717	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160996	42577717	148576559	5052	7198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	201					0	0	1	0	0	A	42581869	G	A	42581869	4	1	22	1	0	0	0	0	0	1	0	0	1190	1066	37	1	2641	1	ATP8A1	4	42581869	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4152	42581869	148572407	5053	7199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	174					1.37657e-19	1.53676e-19	1	1	0	A	42626570	C	A	42626570	4	1	22	1	0	0	0	0	0	1	0	0	1190	922	32	2	3362	2	ATP8A1	4	42626570	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44701	42626570	148527706	5054	7200											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	544					0	0	1	0	0	C	42895651	T	C	42895651	3	2	22	1	0	0	0	0	1	0	0	0	6853	1821	63	3	370	3	GRXCR1	4	42895651	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	269081	42895651	148258625	5055	7201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:44449580G>A	ENST00000360029.3	-	1	1244	c.961_splice	c.e1+1	p.R321_splice		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)			20	84					0	0	1	0	0	A	44449580	G	A	44449580	5	1	22	1	0	0	0	0	0	0	1	0	8159	1130	39	1	468	1	KCTD8	4	44449580	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1553929	44449580	146704696	5056	7202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	329					0	0	1	0	0	T	44691943	C	T	44691943	3	4	22	1	0	0	0	0	1	0	0	0	6940	507	18	2	1328	2	GUF1	4	44691943	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	242363	44691943	146462333	5057	7203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46060235C>T	ENST00000295452.4	-	7	1082	c.916_splice	c.e7+1	p.L305_splice		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													45	233					0	0	1	0	0	T	46060235	C	T	46060235	5	4	22	1	0	0	0	0	0	0	1	0	6206	608	21	2	494	2	GABRG1	4	46060235	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1368292	46060235	145094041	5058	7204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46252622C>A	ENST00000510861.1	-	10	1233		c.e10-1		GABRA2_ENST00000381620.4_Splice_Site|GABRA2_ENST00000507069.1_Splice_Site|GABRA2_ENST00000356504.1_Splice_Site|GABRA2_ENST00000540012.1_Splice_Site|GABRA2_ENST00000514090.1_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													58	295					4.46115e-38	5.36847e-38	1	1	0	A	46252622	C	A	46252622	5	1	22	1	0	0	0	0	0	0	1	0	6196	927	32	2	300	2	GABRA2	4	46252622	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192387	46252622	144901654	5059	7205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	377					0	0	1	0	0	A	46930511	G	A	46930511	4	1	22	1	0	0	0	0	0	1	0	0	6198	1066	37	1	272	1	GABRA4	4	46930511	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	677889	46930511	144223765	5060	7206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	324					0	0	1	0	0	A	46930552	G	A	46930552	3	1	22	1	0	0	0	0	1	0	0	0	6198	1348	47	2	313	2	GABRA4	4	46930552	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41	46930552	144223724	5061	7207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	149					0	0	1	0	0	A	46930768	G	A	46930768	3	1	22	1	0	0	0	0	1	0	0	0	6198	1377	48	2	529	2	GABRA4	4	46930768	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	216	46930768	144223508	5062	7208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	307					0	0	1	0	0	A	46976326	G	A	46976326	3	1	22	1	0	0	0	0	1	0	0	0	6198	1116	39	1	1036	1	GABRA4	4	46976326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45558	46976326	144177950	5063	7209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	246					0	0	1	0	0	A	46979547	G	A	46979547	3	1	22	1	0	0	0	0	1	0	0	0	6198	1145	40	1	1314	1	GABRA4	4	46979547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3221	46979547	144174729	5064	7210											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	680					0	0	1	0	0	T	46995361	C	T	46995361	2	4	22	1	0	0	0	0	0	0	0	1	6198	639	23	1		1	GABRA4	4	46995361	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15814	46995361	144158915	5065	7211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													132	592					0	0	1	0	0	T	47163380	C	T	47163380	3	4	22	1	0	0	0	0	1	0	0	0	6201	507	18	2	369	2	GABRB1	4	47163380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168019	47163380	143990896	5066	7212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	760					0	0	1	0	0	T	47427969	C	T	47427969	2	4	22	1	0	0	0	0	0	0	0	1	6201	610	22	2		2	GABRB1	4	47427969	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	264589	47427969	143726307	5067	7213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	725					1.96292e-10	2.08093e-10	1	1	0	T	47458637	G	T	47458637	3	4	22	1	0	0	0	0	1	0	0	0	3745	971	34	2	231	2	COMMD8	4	47458637	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30668	47458637	143695639	5068	7214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	236					0	0	1	0	0	C	47559715	A	C	47559715	3	2	22	1	0	0	0	0	1	0	0	0	1117	72	3	3	1901	3	ATP10D	4	47559715	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	101078	47559715	143594561	5069	7215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	269					0	0	1	0	0	A	47560058	G	A	47560058	2	1	22	1	0	0	0	0	0	0	0	1	1117	1364	48	2		2	ATP10D	4	47560058	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	343	47560058	143594218	5070	7216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	497					0	0	1	0	0	A	47563037	G	A	47563037	2	1	22	1	0	0	0	0	0	0	0	1	1117	1223	43	2		2	ATP10D	4	47563037	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2979	47563037	143591239	5071	7217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	413					0	0	1	0	0	A	47589067	G	A	47589067	3	1	22	1	0	0	0	0	1	0	0	0	1117	971	34	2	3867	2	ATP10D	4	47589067	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26030	47589067	143565209	5072	7218											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504584.1_Missense_Mutation_p.D651Y|CORIN_ENST00000508498.1_Missense_Mutation_p.D549Y|CORIN_ENST00000505909.1_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													47	257					2.64894e-19	2.95328e-19	1	1	0	A	47645169	C	A	47645169	3	1	22	1	0	0	0	0	1	0	0	0	3775	855	30	2	1098	2	CORIN	4	47645169	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56102	47645169	143509107	5073	7219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47788906C>T	ENST00000508498.1	-	0	76				CORIN_ENST00000273857.4_Missense_Mutation_p.S82N|CORIN_ENST00000502252.1_Intron|CORIN_ENST00000504584.1_Missense_Mutation_p.S82N|CORIN_ENST00000505909.1_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													33	139					0	0	1	0	0	T	47788906	C	T	47788906	1	4	22	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	5074	7220											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													131	597					0	0	1	0	0	T	48147173	C	T	48147173	3	4	22	1	0	0	0	0	1	0	0	0	15801	536	19	1	522	1	TEC	4	48147173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	358267	48147173	143007103	5075	7221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	234					0	0	1	0	0	G	48151572	A	G	48151572	5	3	22	1	0	0	0	0	0	0	1	0	15801	405	14	3	919	3	TEC	4	48151572	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4399	48151572	143002704	5076	7222											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	280					0	0	1	0	0	A	48486146	G	A	48486146	3	1	22	1	0	0	0	0	1	0	0	0	14431	1261	44	2	570	2	SLC10A4	4	48486146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	334574	48486146	142668130	5077	7223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	344					1.30091e-30	1.52718e-30	1	1	0	T	48496233	G	T	48496233	3	4	22	1	0	0	0	0	1	0	0	0	17575	971	34	2	1261	2	ZAR1	4	48496233	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10087	48496233	142658043	5078	7224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48501642G>A	ENST00000358350.4	-	64	9443	c.8839C>T	c.(8839-8841)Ctg>Ttg	p.L2947L	FRYL_ENST00000537810.1_Silent_p.L2947L|FRYL_ENST00000503238.1_Silent_p.L2947L|FRYL_ENST00000507873.2_Silent_p.L337L|FRYL_ENST00000264319.7_Silent_p.L337L	NM_015030.1	NP_055845.1	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													97	349					0	0	1	0	0	A	48501642	G	A	48501642	2	1	22	1	0	0	0	0	0	0	0	1	6099	1020	36	2		2	FRYL	4	48501642	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5409	48501642	142652634	5079	7225											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48502115A>C	ENST00000358350.4	-	63	9319	c.8715T>G	c.(8713-8715)atT>atG	p.I2905M	FRYL_ENST00000537810.1_Missense_Mutation_p.I2905M|FRYL_ENST00000503238.1_Missense_Mutation_p.I2905M|FRYL_ENST00000507873.2_Missense_Mutation_p.I295M|FRYL_ENST00000264319.7_Missense_Mutation_p.I295M	NM_015030.1	NP_055845.1	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													59	278					0	0	1	0	0	C	48502115	A	C	48502115	3	2	22	1	0	0	0	0	1	0	0	0	6099	242	9	3	334	3	FRYL	4	48502115	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	473	48502115	142652161	5080	7226											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48503735G>A	ENST00000358350.4	-	62	9101	c.8497C>T	c.(8497-8499)Cga>Tga	p.R2833*	FRYL_ENST00000537810.1_Nonsense_Mutation_p.R2833*|FRYL_ENST00000503238.1_Nonsense_Mutation_p.R2833*|FRYL_ENST00000507873.2_Nonsense_Mutation_p.R223*|FRYL_ENST00000264319.7_Nonsense_Mutation_p.R223*	NM_015030.1	NP_055845.1	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													101	464					0	0	1	0	0	A	48503735	G	A	48503735	4	1	22	1	0	0	0	0	0	1	0	0	6099	1124	39	1	556	1	FRYL	4	48503735	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1620	48503735	142650541	5081	7227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48512134A>T	ENST00000358350.4	-	59	8940	c.8336T>A	c.(8335-8337)gTt>gAt	p.V2779D	FRYL_ENST00000537810.1_Missense_Mutation_p.V2779D|FRYL_ENST00000503238.1_Missense_Mutation_p.V2779D|FRYL_ENST00000507873.2_Missense_Mutation_p.V175D|FRYL_ENST00000264319.7_Missense_Mutation_p.V175D	NM_015030.1	NP_055845.1	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													40	198					0	0	1	0	0	T	48512134	A	T	48512134	3	4	22	1	0	0	0	0	1	0	0	0	6099	43	2	5	729	5	FRYL	4	48512134	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8399	48512134	142642142	5082	7228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48578084G>A	ENST00000358350.4	-	24	3288	c.2684C>T	c.(2683-2685)gCg>gTg	p.A895V	FRYL_ENST00000537810.1_Missense_Mutation_p.A895V|FRYL_ENST00000503238.1_Missense_Mutation_p.A895V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.A895V	NM_015030.1	NP_055845.1	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													117	596					0	0	1	0	0	A	48578084	G	A	48578084	3	1	22	1	0	0	0	0	1	0	0	0	6099	1087	38	1	6521	1	FRYL	4	48578084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65950	48578084	142576192	5083	7229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48604058C>A	ENST00000358350.4	-	13	1618	c.1014G>T	c.(1012-1014)caG>caT	p.Q338H	FRYL_ENST00000537810.1_Missense_Mutation_p.Q338H|FRYL_ENST00000506685.1_Missense_Mutation_p.Q44H|FRYL_ENST00000503238.1_Missense_Mutation_p.Q338H|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.Q338H	NM_015030.1	NP_055845.1	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													39	185					1.69901e-12	1.82497e-12	1	1	0	A	48604058	C	A	48604058	3	1	22	1	0	0	0	0	1	0	0	0	6099	912	32	2	8235	2	FRYL	4	48604058	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25974	48604058	142550218	5084	7230											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48607807T>G	ENST00000358350.4	-	11	1389	c.785A>C	c.(784-786)aAa>aCa	p.K262T	FRYL_ENST00000537810.1_Missense_Mutation_p.K262T|FRYL_ENST00000506685.1_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.K262T|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.K262T	NM_015030.1	NP_055845.1	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													15	380					0	0	1	0	0	G	48607807	T	G	48607807	3	3	22	1	0	0	0	0	1	0	0	0	6099	1841	64	3	8472	3	FRYL	4	48607807	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3749	48607807	142546469	5085	7231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512981.1_3'UTR|OCIAD1_ENST00000513391.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000396448.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000506801.1_Nonsense_Mutation_p.G6*|OCIAD1_ENST00000509122.1_Nonsense_Mutation_p.G33*|OCIAD1_ENST00000264312.7_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000381473.3_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000444354.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000508293.1_Nonsense_Mutation_p.G60*	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													25	189					1.7367e-05	1.77815e-05	1	1	0	T	48844691	G	T	48844691	4	4	22	1	0	0	0	0	0	1	0	0	10865	1001	35	2	207	2	OCIAD1	4	48844691	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	236884	48844691	142309585	5086	7232											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512981.1_3'UTR|OCIAD1_ENST00000513391.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000396448.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000506801.1_Missense_Mutation_p.L25R|OCIAD1_ENST00000509122.1_Missense_Mutation_p.L52R|OCIAD1_ENST00000264312.7_Missense_Mutation_p.L79R|OCIAD1_ENST00000381473.3_Missense_Mutation_p.L79R|OCIAD1_ENST00000444354.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000508293.1_Missense_Mutation_p.L79R	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													38	107					0	0	1	0	0	G	48850458	T	G	48850458	3	3	22	1	0	0	0	0	1	0	0	0	10865	1609	56	3	269	3	OCIAD1	4	48850458	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5767	48850458	142303818	5087	7233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	244					0	0	1	0	0	C	48994109	T	C	48994109	5	2	22	1	0	0	0	0	0	0	1	0	4096	1652	57	3	527	3	CWH43	4	48994109	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	143651	48994109	142160167	5088	7234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	419					0	0	1	0	0	A	49000506	G	A	49000506	3	1	22	1	0	0	0	0	1	0	0	0	4096	1174	41	2	765	2	CWH43	4	49000506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6397	49000506	142153770	5089	7235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													199	1033					0	0	1	0	0	A	49034600	G	A	49034600	3	1	22	1	0	0	0	0	1	0	0	0	4096	942	33	2	1572	2	CWH43	4	49034600	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34094	49034600	142119676	5090	7236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451288.2_Missense_Mutation_p.P106S|DCUN1D4_ENST00000381441.3_Missense_Mutation_p.P62S|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.P2S	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													73	330					0	0	1	0	0	T	52740484	C	T	52740484	3	4	22	1	0	0	0	0	1	0	0	0	4339	739	26	2	198	2	DCUN1D4	4	52740484	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3705884	52740484	138413792	5091	7237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451288.2_Splice_Site|DCUN1D4_ENST00000381441.3_Splice_Site|DCUN1D4_ENST00000381437.4_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													57	259					0	0	1	0	0	A	52740552	G	A	52740552	5	1	22	1	0	0	0	0	0	0	1	0	4339	1275	44	2	266	2	DCUN1D4	4	52740552	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68	52740552	138413724	5092	7238											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	399					1.76565e-42	2.15003e-42	1	1	0	A	52861802	C	A	52861802	3	1	22	1	0	0	0	0	1	0	0	0	9063	796	28	2	1260	2	LRRC66	4	52861802	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121250	52861802	138292474	5093	7239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	202					0	0	1	0	0	A	52862271	G	A	52862271	3	1	22	1	0	0	0	0	1	0	0	0	9063	1000	35	2	1729	2	LRRC66	4	52862271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	469	52862271	138292005	5094	7240											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	463					5.3912e-06	5.54037e-06	1	1	0	A	52899737	C	A	52899737	4	1	22	1	0	0	0	0	0	1	0	0	14254	922	32	2	873	2	SGCB	4	52899737	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37466	52899737	138254539	5095	7241											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													246	1108					5.91303e-76	7.54278e-76	1	1	0	T	52945942	G	T	52945942	3	4	22	1	0	0	0	0	1	0	0	0	15059	933	33	2	1246	2	SPATA18	4	52945942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46205	52945942	138208334	5096	7242											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													137	1183					0	0	1	0	0	C	52945959	T	C	52945959	3	2	22	1	0	0	0	0	1	0	0	0	15059	1667	58	3	1263	3	SPATA18	4	52945959	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17	52945959	138208317	5097	7243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53468125C>T	ENST00000441222.2	-	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	273					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													70	243					0	0	1	0	0	T	53468125	C	T	53468125	3	4	22	1	0	0	0	0	1	0	0	0	17137	536	19	1	294	1	USP46	4	53468125	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	522166	53468125	137686151	5098	7244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													175	821					0	0	1	0	0	C	53731794	T	C	53731794	3	2	22	1	0	0	0	0	1	0	0	0	13134	1667	58	3	583	3	RASL11B	4	53731794	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	263669	53731794	137422482	5099	7245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	193					6.05902e-23	6.8732e-23	1	1	0	T	53731934	G	T	53731934	3	4	22	1	0	0	0	0	1	0	0	0	13134	971	34	2	723	2	RASL11B	4	53731934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140	53731934	137422342	5100	7246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	283					0	0	1	0	0	A	53786923	G	A	53786923	3	1	22	1	0	0	0	0	1	0	0	0	13943	942	33	2	394	2	SCFD2	4	53786923	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54989	53786923	137367353	5101	7247											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	532					0	0	1	0	0	C	54011686	T	C	54011686	3	2	22	1	0	0	0	0	1	0	0	0	13943	1725	60	3	699	3	SCFD2	4	54011686	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	224763	54011686	137142590	5102	7248											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	388					0	0	1	0	0	T	54231417	C	T	54231417	3	4	22	1	0	0	0	0	1	0	0	0	13943	855	30	2	1398	2	SCFD2	4	54231417	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219731	54231417	136922859	5103	7249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	283					0	0	1	0	0	G	54232059	A	G	54232059	3	3	22	1	0	0	0	0	1	0	0	0	13943	159	6	3	2040	3	SCFD2	4	54232059	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	642	54232059	136922217	5104	7250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358575.5_Missense_Mutation_p.K239Q|FIP1L1_ENST00000337488.6_Missense_Mutation_p.K254Q|FIP1L1_ENST00000507922.1_Missense_Mutation_p.K239Q|FIP1L1_ENST00000306932.6_Missense_Mutation_p.K216Q			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								67	354					0	0	1	0	0	C	54265951	A	C	54265951	3	2	22	1	0	0	0	0	1	0	0	0	5929	15	1	3	798	3	FIP1L1	4	54265951	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33892	54265951	136888325	5105	7251											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358575.5_Missense_Mutation_p.S486I|FIP1L1_ENST00000507166.1_Intron|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								70	307					1.31311e-47	1.61703e-47	1	1	0	T	54319276	G	T	54319276	3	4	22	1	0	0	0	0	1	0	0	0	5929	1029	36	2	1568	2	FIP1L1	4	54319276	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53325	54319276	136835000	5106	7252											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54343147A>G	ENST00000306888.2	-	8	1628	c.1375_splice	c.e8-1	p.G459_splice	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Splice_Site_p.G555_splice	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													95	424					0	0	1	0	0	G	54343147	A	G	54343147	5	3	22	1	0	0	0	0	0	0	1	0	8906	173	6	3	533	3	LNX1	4	54343147	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23871	54343147	136811129	5107	7253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	71					0	0	1	0	0	A	54966712	G	A	54966712	2	1	22	1	0	0	0	0	0	0	0	1	6891	1074	38	1		1	GSX2	4	54966712	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	623565	54966712	136187564	5108	7254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	272					3.86212e-05	3.93988e-05	1	1	0	T	54967769	G	T	54967769	3	4	22	1	0	0	0	0	1	0	0	0	6891	1261	44	2	601	2	GSX2	4	54967769	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1057	54967769	136186507	5109	7255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			101	409					0	0	1	0	0	A	55140704	G	A	55140704	3	1	22	1	0	0	0	0	1	0	0	0	11708	1145	40	1	1603	1	PDGFRA	4	55140704	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	172935	55140704	136013572	5110	7256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			12	305					0	0	1	0	0	A	55156501	G	A	55156501	3	1	22	1	0	0	0	0	1	0	0	0	11708	1174	41	2	2984	2	PDGFRA	4	55156501	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15797	55156501	135997775	5111	7257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			104	446					0	0	1	0	0	A	55156639	G	A	55156639	3	1	22	1	0	0	0	0	1	0	0	0	11708	1087	38	1	3122	1	PDGFRA	4	55156639	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138	55156639	135997637	5112	7258											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				61	301					0	0	1	0	0	T	55565810	C	T	55565810	3	4	22	1	0	0	0	0	1	0	0	0	8372	739	26	2	648	2	KIT	4	55565810	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	409171	55565810	135588466	5113	7259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				33	249					1.39649e-27	1.61833e-27	1	1	0	A	55569916	C	A	55569916	3	1	22	1	0	0	0	0	1	0	0	0	8372	796	28	2	801	2	KIT	4	55569916	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4106	55569916	135584360	5114	7260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				6	253					0	0	1	0	0	G	55575592	A	G	55575592	3	3	22	1	0	0	0	0	1	0	0	0	8372	391	14	3	1144	3	KIT	4	55575592	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5676	55575592	135578684	5115	7261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				36	184					0	0	1	0	0	T	55597497	C	T	55597497	2	4	22	1	0	0	0	0	0	0	0	1	8372	767	27	1		1	KIT	4	55597497	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21905	55597497	135556779	5116	7262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				70	328					1.71382e-40	2.07847e-40	1	1	0	A	55602902	C	A	55602902	3	1	22	1	0	0	0	0	1	0	0	0	8372	681	24	2	2686	2	KIT	4	55602902	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5405	55602902	135551374	5117	7263											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			61	244					5.62145e-24	6.41091e-24	1	1	0	A	55987321	C	A	55987321	3	1	22	1	0	0	0	0	1	0	0	0	8182	797	28	2	4082	2	KDR	4	55987321	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	384419	55987321	135166955	5118	7264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000595734.1_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													136	570					6.80707e-84	8.71856e-84	1	1	0	T	56236230	G	T	56236230	3	4	22	1	0	0	0	0	1	0	0	0	15196	1000	35	2	947	2	SRD5A3	4	56236230	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	248909	56236230	134918046	5119	7265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_018475.3	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													53	200					0	0	1	0	0	T	56277926	C	T	56277926	3	4	22	1	0	0	0	0	1	0	0	0	16140	739	26	2	359	2	TMEM165	4	56277926	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41696	56277926	134876350	5120	7266											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542052.1_Silent_p.P150P|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000506198.1_Intron	NM_018475.3	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													37	147					0	0	1	0	0	A	56283999	G	A	56283999	2	1	22	1	0	0	0	0	0	0	0	1	16140	1103	39	1		1	TMEM165	4	56283999	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6073	56283999	134870277	5121	7267											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	183					0	0	1	0	0	C	56304679	T	C	56304679	3	2	22	1	0	0	0	0	1	0	0	0	3572	1667	58	3	417	3	CLOCK	4	56304679	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20680	56304679	134849597	5122	7268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	199					0	0	1	0	0	C	56310933	A	C	56310933	4	2	22	1	0	0	0	0	0	1	0	0	3572	372	13	3	1001	3	CLOCK	4	56310933	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6254	56310933	134843343	5123	7269											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	67					0	0	1	0	0	C	56345083	A	C	56345083	3	2	22	1	0	0	0	0	1	0	0	0	3572	43	2	3	2457	3	CLOCK	4	56345083	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34150	56345083	134809193	5124	7270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	91					0	0	1	0	0	A	56348963	G	A	56348963	1	1	22	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	5125	7271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	399					0	0	1	0	0	T	56770575	C	T	56770575	3	4	22	1	0	0	0	0	1	0	0	0	5328	884	31	1	2669	1	EXOC1	4	56770575	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	421612	56770575	134383701	5126	7272											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	155					0	0	1	0	0	T	56831839	C	T	56831839	2	4	22	1	0	0	0	0	0	0	0	1	3269	506	18	2		2	CEP135	4	56831839	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61264	56831839	134322437	5127	7273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	282					0	0	1	0	0	A	56846364	G	A	56846364	3	1	22	1	0	0	0	0	1	0	0	0	3269	1145	40	1	1571	1	CEP135	4	56846364	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14525	56846364	134307912	5128	7274											
KIAA1211	57482	broad.mit.edu	37	chr4	57179389	57179389	+	Frame_Shift_Del	DEL	A	A	-													cccgttaaaccgtctcggccAaaaaggcacttctcttctgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57179389delA	ENST00000504228.1	+	5	486	c.381delA	c.(379-381)ccfs	p.P127fs	KIAA1211_ENST00000541073.1_Frame_Shift_Del_p.P120fs|KIAA1211_ENST00000264229.6_Frame_Shift_Del_p.P127fs			Q6ZU35	K1211_HUMAN	KIAA1211	127										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)					CGTCTCGGCCAAAAAGGCACT	0.537													7	1253	---	---	---	---						-	57179389	A	-	57179389	7	5	22	1	0	1	0	1	0	0	0	0	8257	117	5	0	395	0	KIAA1211	4	57179389	Frame_Shift_Del	DEL	A	TCGA-IB-7651-01A-11D-2154-08	333025	57179389	133974887	5129	7275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	821					0	0	1	0	0	A	57179456	G	A	57179456	3	1	22	1	0	0	0	0	1	0	0	0	8257	1087	38	1	462	1	KIAA1211	4	57179456	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	57179456	133974820	5130	7276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													158	695					6.34984e-79	8.11231e-79	1	1	0	T	57193927	G	T	57193927	3	4	22	1	0	0	0	0	1	0	0	0	8257	1000	35	2	3689	2	KIAA1211	4	57193927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14471	57193927	133960349	5131	7277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451613.1_Missense_Mutation_p.C736S|AASDH_ENST00000513376.1_Missense_Mutation_p.C636S|AASDH_ENST00000602986.1_Missense_Mutation_p.C583S|AASDH_ENST00000434343.2_Missense_Mutation_p.C251S|AASDH_ENST00000502617.1_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													43	558					0	0	1	0	0	G	57215710	C	G	57215710	3	3	22	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	5132	7278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451613.1_Missense_Mutation_p.L188I|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000513376.1_Missense_Mutation_p.L88I|AASDH_ENST00000602986.1_Missense_Mutation_p.L35I|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000502617.1_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													111	435					7.036e-43	8.57727e-43	1	1	0	T	57244420	G	T	57244420	3	4	22	1	0	0	0	0	1	0	0	0	22	962	34	2	2782	2	AASDH	4	57244420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28710	57244420	133909856	5133	7279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													144	601					0	0	1	0	0	A	57266984	G	A	57266984	3	1	22	1	0	0	0	0	1	0	0	0	12347	942	33	2	589	2	PPAT	4	57266984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22564	57266984	133887292	5134	7280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	235					0	0	1	0	0	A	57269561	G	A	57269561	3	1	22	1	0	0	0	0	1	0	0	0	12347	1087	38	1	1176	1	PPAT	4	57269561	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2577	57269561	133884715	5135	7281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399688.3_Missense_Mutation_p.L379I|PAICS_ENST00000512576.1_Missense_Mutation_p.L372I			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													19	107					8.28177e-16	9.06825e-16	1	1	0	A	57325540	C	A	57325540	3	1	22	1	0	0	0	0	1	0	0	0	11442	913	32	2	1173	2	PAICS	4	57325540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55979	57325540	133828736	5136	7282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399688.3_Missense_Mutation_p.V384A|PAICS_ENST00000512576.1_Missense_Mutation_p.V377A			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													18	109					0	0	1	0	0	C	57325556	T	C	57325556	3	2	22	1	0	0	0	0	1	0	0	0	11442	1638	57	3	1189	3	PAICS	4	57325556	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16	57325556	133828720	5137	7283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	176					2.26627e-22	2.56399e-22	1	1	0	T	57366836	G	T	57366836	3	4	22	1	0	0	0	0	1	0	0	0	15213	971	34	2	1883	2	SRP72	4	57366836	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41280	57366836	133787440	5138	7284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	154					0	0	1	0	0	C	57776821	T	C	57776821	3	2	22	1	0	0	0	0	1	0	0	0	13286	1464	51	3	19	3	REST	4	57776821	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	409985	57776821	133377455	5139	7285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	325					0	0	1	0	0	C	57777141	A	C	57777141	3	2	22	1	0	0	0	0	1	0	0	0	13286	72	3	3	339	3	REST	4	57777141	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	320	57777141	133377135	5140	7286											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	281					2.35958e-20	2.64308e-20	1	1	0	T	57777432	G	T	57777432	3	4	22	1	0	0	0	0	1	0	0	0	13286	942	33	2	630	2	REST	4	57777432	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	291	57777432	133376844	5141	7287											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	529					4.04957e-52	5.03512e-52	1	1	0	T	57796239	G	T	57796239	3	4	22	1	0	0	0	0	1	0	0	0	13286	1020	36	2	1225	2	REST	4	57796239	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18807	57796239	133358037	5142	7288											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	141					0	0	1	0	0	C	57796731	A	C	57796731	3	2	22	1	0	0	0	0	1	0	0	0	13286	11	1	3	1717	3	REST	4	57796731	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	492	57796731	133357545	5143	7289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	169					0	0	1	0	0	A	57796834	G	A	57796834	3	1	22	1	0	0	0	0	1	0	0	0	13286	1233	43	2	1820	2	REST	4	57796834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103	57796834	133357442	5144	7290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	2084					2.94398e-08	3.0722e-08	1	1	0	A	57797303	C	A	57797303	3	1	22	1	0	0	0	0	1	0	0	0	13286	681	24	2	2289	2	REST	4	57797303	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	469	57797303	133356973	5145	7291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000314595.5_Silent_p.V469V|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000441246.2_Silent_p.V462V|POLR2B_ENST00000431623.2_Silent_p.V394V			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													62	769					0	0	1	0	0	A	57876529	G	A	57876529	2	1	22	1	0	0	0	0	0	0	0	1	12263	1364	48	2		2	POLR2B	4	57876529	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79226	57876529	133277747	5146	7292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000314595.5_Missense_Mutation_p.R798H|POLR2B_ENST00000441246.2_Missense_Mutation_p.R791H|POLR2B_ENST00000431623.2_Missense_Mutation_p.R723H			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													80	351					0	0	1	0	0	A	57887134	G	A	57887134	3	1	22	1	0	0	0	0	1	0	0	0	12263	1145	40	1	2459	1	POLR2B	4	57887134	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10605	57887134	133267142	5147	7293											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:62598530C>T	ENST00000512091.1	+	7	1200	c.453C>T	c.(451-453)tcC>tcT	p.S151S	LPHN3_ENST00000514157.1_Silent_p.S151S|LPHN3_ENST00000508693.1_Silent_p.S219S|LPHN3_ENST00000507625.1_Silent_p.S219S|LPHN3_ENST00000514591.1_Silent_p.S151S|LPHN3_ENST00000545650.1_Silent_p.S151S|LPHN3_ENST00000506700.1_Silent_p.S151S|LPHN3_ENST00000509896.1_Silent_p.S219S|LPHN3_ENST00000506720.1_Silent_p.S219S|LPHN3_ENST00000511324.1_Silent_p.S219S|LPHN3_ENST00000506746.1_Silent_p.S219S|LPHN3_ENST00000514996.1_Silent_p.S151S|LPHN3_ENST00000508946.1_Silent_p.S151S|LPHN3_ENST00000507164.1_Silent_p.S219S|LPHN3_ENST00000504896.1_Silent_p.S151S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	151	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													16	67					0	0	1	0	0	T	62598530	C	T	62598530	2	4	22	1	0	0	0	0	0	0	0	1	8962	639	23	1		1	LPHN3	4	62598530	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4711396	62598530	128555746	5148	7294											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:62599163G>A	ENST00000512091.1	+	7	1833	c.1086G>A	c.(1084-1086)caG>caA	p.Q362Q	LPHN3_ENST00000514157.1_Silent_p.Q362Q|LPHN3_ENST00000508693.1_Silent_p.Q430Q|LPHN3_ENST00000507625.1_Silent_p.Q430Q|LPHN3_ENST00000514591.1_Silent_p.Q362Q|LPHN3_ENST00000545650.1_Silent_p.Q362Q|LPHN3_ENST00000506700.1_Silent_p.Q362Q|LPHN3_ENST00000509896.1_Silent_p.Q430Q|LPHN3_ENST00000506720.1_Silent_p.Q430Q|LPHN3_ENST00000511324.1_Silent_p.Q430Q|LPHN3_ENST00000506746.1_Silent_p.Q430Q|LPHN3_ENST00000514996.1_Silent_p.Q362Q|LPHN3_ENST00000508946.1_Silent_p.Q362Q|LPHN3_ENST00000507164.1_Silent_p.Q430Q|LPHN3_ENST00000504896.1_Silent_p.Q362Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	362	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													26	138					0	0	1	0	0	A	62599163	G	A	62599163	2	1	22	1	0	0	0	0	0	0	0	1	8962	1020	36	2		2	LPHN3	4	62599163	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	633	62599163	128555113	5149	7295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000511294.1_Missense_Mutation_p.V775A|EPHA5_ENST00000354839.4_Missense_Mutation_p.V752A|EPHA5_ENST00000432638.2_Missense_Mutation_p.V611A	NM_004439.5	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)			49	264					0	0	1	0	0	G	66217294	A	G	66217294	3	3	22	1	0	0	0	0	1	0	0	0	5198	159	6	3	812	3	EPHA5	4	66217294	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3618131	66217294	124936982	5150	7296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000511294.1_Missense_Mutation_p.T516M|EPHA5_ENST00000354839.4_Missense_Mutation_p.T516M|EPHA5_ENST00000432638.2_Missense_Mutation_p.T352M	NM_004439.5	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)			69	393					0	0	1	0	0	A	66280142	G	A	66280142	3	1	22	1	0	0	0	0	1	0	0	0	5198	1145	40	1	1614	1	EPHA5	4	66280142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62848	66280142	124874134	5151	7297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000511294.1_Missense_Mutation_p.V460I|EPHA5_ENST00000354839.4_Missense_Mutation_p.V460I|EPHA5_ENST00000432638.2_Intron	NM_004439.5	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)			59	252					0	0	1	0	0	T	66356119	C	T	66356119	3	4	22	1	0	0	0	0	1	0	0	0	5198	478	17	2	1791	2	EPHA5	4	66356119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75977	66356119	124798157	5152	7298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000511294.1_Silent_p.Y414Y|EPHA5_ENST00000354839.4_Silent_p.Y414Y|EPHA5_ENST00000432638.2_Intron	NM_004439.5	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)			54	268					0	0	1	0	0	A	66356255	G	A	66356255	2	1	22	1	0	0	0	0	0	0	0	1	5198	1256	44	2		2	EPHA5	4	66356255	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136	66356255	124798021	5153	7299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000511294.1_Missense_Mutation_p.T334S|EPHA5_ENST00000354839.4_Missense_Mutation_p.T334S|EPHA5_ENST00000432638.2_Intron	NM_004439.5	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)			122	554					0	0	1	0	0	A	66361172	T	A	66361172	3	1	22	1	0	0	0	0	1	0	0	0	5198	1725	60	5	2173	5	EPHA5	4	66361172	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4917	66361172	124793104	5154	7300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68490771G>A	ENST00000322244.4	-	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	885					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													69	263					0	0	1	0	0	A	68490771	G	A	68490771	3	1	22	1	0	0	0	0	1	0	0	0	16893	1087	38	1	525	1	UBA6	4	68490771	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2129599	68490771	122663505	5155	7301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68501275G>A	ENST00000322244.4	-	20	1797	c.1736_splice	c.e20-1	p.R580_splice		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	580					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													11	287					0	0	1	0	0	A	68501275	G	A	68501275	5	1	22	1	0	0	0	0	0	0	1	0	16893	1072	37	1	1476	1	UBA6	4	68501275	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10504	68501275	122653001	5156	7302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	GNRHR_ENST00000420975.2_Intron|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000502758.1_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													102	497					0	0	1	0	0	T	68610471	C	T	68610471	3	4	22	1	0	0	0	0	1	0	0	0	6591	797	28	2	437	2	GNRHR	4	68610471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109196	68610471	122543805	5157	7303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP11-453E17.1_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													146	664					0	0	1	0	0	C	68688070	T	C	68688070	2	2	22	1	0	0	0	0	0	0	0	1	16301	1722	60	3		3	TMPRSS11D	4	68688070	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	77599	68688070	122466206	5158	7304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP11-453E17.1_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													39	204					0	0	1	0	0	G	68725349	A	G	68725349	3	3	22	1	0	0	0	0	1	0	0	0	16301	391	14	3	1236	3	TMPRSS11D	4	68725349	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	37279	68725349	122428927	5159	7305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355665.3_Missense_Mutation_p.K547N|YTHDC1_ENST00000579690.1_Missense_Mutation_p.K565N	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													28	344					4.4194e-11	4.70867e-11	1	1	0	A	69184570	C	A	69184570	3	1	22	1	0	0	0	0	1	0	0	0	17556	680	24	2	508	2	YTHDC1	4	69184570	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	459221	69184570	121969706	5160	7306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69197819A>G	ENST00000344157.4	-	7	1458		c.e7+1		YTHDC1_ENST00000355665.3_Splice_Site|YTHDC1_ENST00000579690.1_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													46	178					0	0	1	0	0	G	69197819	A	G	69197819	5	3	22	1	0	0	0	0	0	0	1	0	17556	405	14	3	1103	3	YTHDC1	4	69197819	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13249	69197819	121956457	5161	7307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355665.3_Missense_Mutation_p.E224K|YTHDC1_ENST00000579690.1_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													19	112					0	0	1	0	0	T	69202958	C	T	69202958	3	4	22	1	0	0	0	0	1	0	0	0	17556	922	32	2	1569	2	YTHDC1	4	69202958	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5139	69202958	121951318	5162	7308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355665.3_Missense_Mutation_p.Q168H|YTHDC1_ENST00000579690.1_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													86	375					2.43056e-48	2.99958e-48	1	1	0	A	69203124	C	A	69203124	3	1	22	1	0	0	0	0	1	0	0	0	17556	564	20	2	1735	2	YTHDC1	4	69203124	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	166	69203124	121951152	5163	7309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													310	1348					0	0	1	0	0	G	69327568	T	G	69327568	3	3	22	1	0	0	0	0	1	0	0	0	16302	1725	60	3	47	3	TMPRSS11E	4	69327568	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	124444	69327568	121826708	5164	7310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													131	630					0	0	1	0	0	T	69344605	C	T	69344605	3	4	22	1	0	0	0	0	1	0	0	0	16302	913	32	2	1040	2	TMPRSS11E	4	69344605	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17037	69344605	121809671	5165	7311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	607					0	0	1	0	0	T	69519975	C	T	69519975	5	4	22	1	0	0	0	0	0	0	1	0	17018	695	24	2	2124	2	UGT2B15	4	69519975	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175370	69519975	121634301	5166	7312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	563					0	0	1	0	0	T	69682216	C	T	69682216	3	4	22	1	0	0	0	0	1	0	0	0	17016	797	28	2	481	2	UGT2B10	4	69682216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	162241	69682216	121472060	5167	7313											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	417					0	0	1	0	0	T	69796399	C	T	69796399	3	4	22	1	0	0	0	0	1	0	0	0	17015	855	30	2	422	2	UGT2A3	4	69796399	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114183	69796399	121357877	5168	7314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381096.3_Missense_Mutation_p.P59S|UGT2B4_ENST00000512583.1_Missense_Mutation_p.P195S|UGT2B4_ENST00000506580.1_Intron	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													44	272					0	0	1	0	0	A	70360997	G	A	70360997	3	1	22	1	0	0	0	0	1	0	0	0	17021	1203	42	2	1027	2	UGT2B4	4	70360997	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	564598	70360997	120793279	5169	7315											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:70599155A>C	ENST00000310613.2	-	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	191					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													15	746					0	0	1	0	0	C	70599155	A	C	70599155	3	2	22	1	0	0	0	0	1	0	0	0	15432	11	1	3	329	3	SULT1B1	4	70599155	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	238158	70599155	120555121	5170	7316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	676					1.87287e-50	2.32076e-50	1	1	0	A	71024115	C	A	71024115	3	1	22	1	0	0	0	0	1	0	0	0	2284	681	24	2	156	2	C4orf40	4	71024115	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	424960	71024115	120130161	5171	7317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													149	711					0	0	1	0	0	A	71024336	G	A	71024336	3	1	22	1	0	0	0	0	1	0	0	0	2284	971	34	2	377	2	C4orf40	4	71024336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	221	71024336	120129940	5172	7318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	345					6.11987e-43	7.46226e-43	1	1	0	T	71024410	G	T	71024410	3	4	22	1	0	0	0	0	1	0	0	0	2284	962	34	2	451	2	C4orf40	4	71024410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74	71024410	120129866	5173	7319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	109					0	0	1	0	0	G	71066290	A	G	71066290	3	3	22	1	0	0	0	0	1	0	0	0	10872	130	5	3	522	3	ODAM	4	71066290	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41880	71066290	120087986	5174	7320											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	433					0	0	1	0	0	T	71384505	C	T	71384505	3	4	22	1	0	0	0	0	1	0	0	0	586	536	19	1	13	1	AMTN	4	71384505	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	318215	71384505	119769771	5175	7321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	153					0	0	1	0	0	C	71396761	A	C	71396761	3	2	22	1	0	0	0	0	1	0	0	0	586	11	1	3	389	3	AMTN	4	71396761	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12256	71396761	119757515	5176	7322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	183					0	0	1	0	0	G	71472130	A	G	71472130	3	3	22	1	0	0	0	0	1	0	0	0	559	391	14	3	1077	3	AMBN	4	71472130	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75369	71472130	119682146	5177	7323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	225					0	0	1	0	0	A	71508510	G	A	71508510	3	1	22	1	0	0	0	0	1	0	0	0	5140	971	34	2	1397	2	ENAM	4	71508510	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36380	71508510	119645766	5178	7324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	311					0	0	1	0	0	C	71510041	A	C	71510041	3	2	22	1	0	0	0	0	1	0	0	0	5140	11	1	3	2928	3	ENAM	4	71510041	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1531	71510041	119644235	5179	7325											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	325					4.37588e-27	5.05892e-27	1	1	0	A	71510303	C	A	71510303	3	1	22	1	0	0	0	0	1	0	0	0	5140	710	25	2	3190	2	ENAM	4	71510303	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262	71510303	119643973	5180	7326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ENAM_ENST00000472903.1_Intron|IGJ_ENST00000543780.1_Silent_p.I129I	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													69	254					8.83742e-36	1.05621e-35	1	1	0	T	71522187	G	T	71522187	2	4	22	1	0	0	0	0	0	0	0	1	7636	932	33	2		2	IGJ	4	71522187	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11884	71522187	119632089	5181	7327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	359					0	0	1	0	0	T	71555130	C	T	71555130	3	4	22	1	0	0	0	0	1	0	0	0	17161	739	26	2	738	2	UTP3	4	71555130	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32943	71555130	119599146	5182	7328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381006.3_Nonsense_Mutation_p.R315*|RUFY3_ENST00000417478.2_Nonsense_Mutation_p.R375*|RUFY3_ENST00000536664.1_Nonsense_Mutation_p.R299*	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													27	149					0	0	1	0	0	T	71648856	C	T	71648856	4	4	22	1	0	0	0	0	0	1	0	0	13792	528	19	1	1339	1	RUFY3	4	71648856	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93726	71648856	119505420	5183	7329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381006.3_Missense_Mutation_p.E352D|RUFY3_ENST00000417478.2_Missense_Mutation_p.E412D|RUFY3_ENST00000536664.1_Missense_Mutation_p.E336D	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													14	70					1.3612e-06	1.40558e-06	1	1	0	T	71650581	G	T	71650581	3	4	22	1	0	0	0	0	1	0	0	0	13792	933	33	2	1456	2	RUFY3	4	71650581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1725	71650581	119503695	5184	7330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.R168Q|GRSF1_ENST00000545193.1_Missense_Mutation_p.R212Q|GRSF1_ENST00000439371.1_Missense_Mutation_p.R168Q	NM_002092.3	NP_002083.3	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													67	267					0	0	1	0	0	T	71693715	C	T	71693715	3	4	22	1	0	0	0	0	1	0	0	0	6850	884	31	1	469	1	GRSF1	4	71693715	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43134	71693715	119460561	5185	7331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	159					0	0	1	0	0	C	72897828	T	C	72897828	2	2	22	1	0	0	0	0	0	0	0	1	10625	1635	57	3		3	NPFFR2	4	72897828	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1204113	72897828	118256448	5186	7332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	520					2.48225e-49	3.07029e-49	1	1	0	A	72994599	C	A	72994599	3	1	22	1	0	0	0	0	1	0	0	0	10625	912	32	2	609	2	NPFFR2	4	72994599	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96771	72994599	118159677	5187	7333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	330					1.24833e-42	1.5209e-42	1	1	0	A	73161482	C	A	73161482	3	1	22	1	0	0	0	0	1	0	0	0	266	855	30	2	1021	2	ADAMTS3	4	73161482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	166883	73161482	117992794	5188	7334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	333					0	0	1	0	0	C	73175167	T	C	73175167	3	2	22	1	0	0	0	0	1	0	0	0	266	1493	52	3	1523	3	ADAMTS3	4	73175167	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13685	73175167	117979109	5189	7335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	211					1.61004e-24	1.84098e-24	1	1	0	T	73181645	G	T	73181645	3	4	22	1	0	0	0	0	1	0	0	0	266	1000	35	2	2136	2	ADAMTS3	4	73181645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6478	73181645	117972631	5190	7336											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	292					0.00116845	0.00118049	1	1	0	T	73185142	G	T	73185142	3	4	22	1	0	0	0	0	1	0	0	0	266	971	34	2	2414	2	ADAMTS3	4	73185142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3497	73185142	117969134	5191	7337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													133	559					0	0	1	0	0	C	73188804	A	C	73188804	3	2	22	1	0	0	0	0	1	0	0	0	266	101	4	3	2813	3	ADAMTS3	4	73188804	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3662	73188804	117965472	5192	7338											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													183	809					0	0	1	0	0	T	73205355	C	T	73205355	2	4	22	1	0	0	0	0	0	0	0	1	266	796	28	2		2	ADAMTS3	4	73205355	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16551	73205355	117948921	5193	7339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	270					0	0	1	0	0	T	73280626	C	T	73280626	2	4	22	1	0	0	0	0	0	0	0	1	266	912	32	2		2	ADAMTS3	4	73280626	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75271	73280626	117873650	5194	7340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	336					0	0	1	0	0	T	73414462	C	T	73414462	2	4	22	1	0	0	0	0	0	0	0	1	266	564	20	2		2	ADAMTS3	4	73414462	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133836	73414462	117739814	5195	7341											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	307					3.11337e-16	3.41587e-16	1	1	0	T	73944497	G	T	73944497	3	4	22	1	0	0	0	0	1	0	0	0	642	1174	41	2	557	2	ANKRD17	4	73944497	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	530035	73944497	117209779	5196	7342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													157	674					0	0	1	0	0	G	73957906	T	G	73957906	2	3	22	1	0	0	0	0	0	0	0	1	642	1567	55	3		3	ANKRD17	4	73957906	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13409	73957906	117196370	5197	7343											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	321					0	0	1	0	0	T	73964157	C	T	73964157	3	4	22	1	0	0	0	0	1	0	0	0	642	739	26	2	3193	2	ANKRD17	4	73964157	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6251	73964157	117190119	5198	7344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000509867.2_Missense_Mutation_p.Y1184H|ANKRD17_ENST00000330838.6_Missense_Mutation_p.Y1046H|ANKRD17_ENST00000514252.1_5'UTR	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													63	242					0	0	1	0	0	G	73986015	A	G	73986015	3	3	22	1	0	0	0	0	1	0	0	0	642	449	16	3	3978	3	ANKRD17	4	73986015	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21858	73986015	117168261	5199	7345											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000509867.2_Silent_p.E983E|ANKRD17_ENST00000330838.6_Silent_p.E845E|ANKRD17_ENST00000514252.1_5'UTR	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													107	462					0	0	1	0	0	T	73990976	C	T	73990976	2	4	22	1	0	0	0	0	0	0	0	1	642	680	24	2		2	ANKRD17	4	73990976	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4961	73990976	117163300	5200	7346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	149					0	0	1	0	0	A	74124155	G	A	74124155	2	1	22	1	0	0	0	0	0	0	0	1	642	1252	44	2		2	ANKRD17	4	74124155	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133179	74124155	117030121	5201	7347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	79					0	0	1	0	0	T	74124188	C	T	74124188	2	4	22	1	0	0	0	0	0	0	0	1	642	755	27	1		1	ANKRD17	4	74124188	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	74124188	117030088	5202	7348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				81	385					2.63401e-43	3.21458e-43	1	1	0	T	74310810	G	T	74310810	4	4	22	1	0	0	0	0	0	1	0	0	362	1001	35	2	840	2	AFP	4	74310810	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	186622	74310810	116843466	5203	7349											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				5	212					0	0	1	0	0	A	74313256	G	A	74313256	2	1	22	1	0	0	0	0	0	0	0	1	362	1074	38	1		1	AFP	4	74313256	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2446	74313256	116841020	5204	7350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	335					0	0	1	0	0	T	74357693	C	T	74357693	2	4	22	1	0	0	0	0	0	0	0	1	360	564	20	2		2	AFM	4	74357693	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44437	74357693	116796583	5205	7351											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													154	718					5.54423e-67	7.01969e-67	1	1	0	A	74442353	C	A	74442353	3	1	22	1	0	0	0	0	1	0	0	0	13142	913	32	2	208	2	RASSF6	4	74442353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84660	74442353	116711923	5206	7352											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	294					2.44918e-20	2.7432e-20	1	1	0	A	74447568	C	A	74447568	3	1	22	1	0	0	0	0	1	0	0	0	13142	680	24	2	342	2	RASSF6	4	74447568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5215	74447568	116706708	5207	7353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	313					0	0	1	0	0	A	74846978	G	A	74846978	2	1	22	1	0	0	0	0	0	0	0	1	11800	963	34	2		2	PF4	4	74846978	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	399410	74846978	116307298	5208	7354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	256					0	0	1	0	0	A	75147231	G	A	75147231	3	1	22	1	0	0	0	0	1	0	0	0	9978	1001	35	2	921	2	MTHFD2L	4	75147231	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	300253	75147231	116007045	5209	7355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	46					0	0	1	0	0	A	75959104	G	A	75959104	3	1	22	1	0	0	0	0	1	0	0	0	11499	1087	38	1	791	1	PARM1	4	75959104	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	811873	75959104	115195172	5210	7356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	126					0	0	1	0	0	A	75971390	G	A	75971390	3	1	22	1	0	0	0	0	1	0	0	0	11499	942	33	2	880	2	PARM1	4	75971390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12286	75971390	115182886	5211	7357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	191					0	0	1	0	0	G	76523300	A	G	76523300	2	3	22	1	0	0	0	0	0	0	0	1	3176	214	8	3		3	CDKL2	4	76523300	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	551910	76523300	114630976	5212	7358											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357854.3_Missense_Mutation_p.R78C|G3BP2_ENST00000395719.3_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													134	567					0	0	1	0	0	A	76582860	G	A	76582860	3	1	22	1	0	0	0	0	1	0	0	0	6177	1058	37	1	1252	1	G3BP2	4	76582860	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59560	76582860	114571416	5213	7359											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	130					0	0	1	0	0	G	76692258	C	G	76692258	3	3	22	1	0	0	0	0	1	0	0	0	17099	564	20	5	390	5	USO1	4	76692258	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109398	76692258	114462018	5214	7360											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	257					0	0	1	0	0	A	76715005	G	A	76715005	3	1	22	1	0	0	0	0	1	0	0	0	17099	1203	42	2	1294	2	USO1	4	76715005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22747	76715005	114439271	5215	7361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	46					0.000157383	0.000159814	1	1	0	A	76733463	C	A	76733463	3	1	22	1	0	0	0	0	1	0	0	0	17099	797	28	2	2665	2	USO1	4	76733463	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18458	76733463	114420813	5216	7362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	223					0	0	1	0	0	T	76794284	C	T	76794284	3	4	22	1	0	0	0	0	1	0	0	0	12353	768	27	1	783	1	PPEF2	4	76794284	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60821	76794284	114359992	5217	7363											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	622					0	0	1	0	0	T	76811174	C	T	76811174	3	4	22	1	0	0	0	0	1	0	0	0	12353	768	27	1	1960	1	PPEF2	4	76811174	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16890	76811174	114343102	5218	7364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76895229C>T	ENST00000356260.5	-	7	754	c.636_splice	c.e7+1	p.K212_splice	SDAD1_ENST00000395711.4_Splice_Site_p.K175_splice	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													76	377					0	0	1	0	0	T	76895229	C	T	76895229	5	4	22	1	0	0	0	0	0	0	1	0	14004	695	24	2	1491	2	SDAD1	4	76895229	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84055	76895229	114259047	5219	7365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000514987.1_Missense_Mutation_p.D435N|NUP54_ENST00000458189.2_Missense_Mutation_p.D303N	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													31	206					0	0	1	0	0	T	77036596	C	T	77036596	3	4	22	1	0	0	0	0	1	0	0	0	10815	913	32	2	80	2	NUP54	4	77036596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141367	77036596	114117680	5220	7366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	365					0	0	1	0	0	A	77084388	G	A	77084388	3	1	22	1	0	0	0	0	1	0	0	0	13935	1174	41	2	56	2	SCARB2	4	77084388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47792	77084388	114069888	5221	7367											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	128					0.00198382	0.00200138	1	1	0	A	77234349	C	A	77234349	3	1	22	1	0	0	0	0	1	0	0	0	2809	913	32	2	29	2	CCDC158	4	77234349	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149961	77234349	113919927	5222	7368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	436					0	0	1	0	0	G	77288498	A	G	77288498	2	3	22	1	0	0	0	0	0	0	0	1	2809	291	11	3		3	CCDC158	4	77288498	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	54149	77288498	113865778	5223	7369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	327					2.43698e-19	2.71768e-19	1	1	0	A	77304873	C	A	77304873	3	1	22	1	0	0	0	0	1	0	0	0	2809	797	28	2	2672	2	CCDC158	4	77304873	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16375	77304873	113849403	5224	7370											
CCDC158	339965	broad.mit.edu	37	chr4	77305357	77305357	+	Frame_Shift_Del	DEL	T	T	-													catgctgtcatgttcacataTttttttgcctgaggcttctt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77305357delT	ENST00000388914.3	-	5	762	c.610delA	c.(610-612)tafs	p.I204fs	CCDC158_ENST00000434846.2_Frame_Shift_Del_p.I204fs	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	204										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						TGTTCACATATTTTTTTGCCT	0.393													8	522	---	---	---	---						-	77305357	T	-	77305357	7	5	22	1	0	1	0	1	0	0	0	0	2809	1493	52	0	2811	0	CCDC158	4	77305357	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	484	77305357	113848919	5225	7371											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	450					0	0	1	0	0	A	77305391	G	A	77305391	2	1	22	1	0	0	0	0	0	0	0	1	2809	1164	41	2		2	CCDC158	4	77305391	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	77305391	113848885	5226	7372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	345					0	0	1	0	0	T	77631357	C	T	77631357	2	4	22	1	0	0	0	0	0	0	0	1	14350	883	31	1		1	SHROOM3	4	77631357	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325966	77631357	113522919	5227	7373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	176					0	0	1	0	0	T	77660200	C	T	77660200	4	4	22	1	0	0	0	0	0	1	0	0	14350	876	31	1	892	1	SHROOM3	4	77660200	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28843	77660200	113494076	5228	7374											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													131	671					0	0	1	0	0	T	77661164	C	T	77661164	3	4	22	1	0	0	0	0	1	0	0	0	14350	768	27	1	1856	1	SHROOM3	4	77661164	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	964	77661164	113493112	5229	7375											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	288					0	0	1	0	0	T	77661560	C	T	77661560	3	4	22	1	0	0	0	0	1	0	0	0	14350	652	23	1	2252	1	SHROOM3	4	77661560	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	396	77661560	113492716	5230	7376											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	172					0	0	1	0	0	T	77675851	C	T	77675851	2	4	22	1	0	0	0	0	0	0	0	1	14350	755	27	1		1	SHROOM3	4	77675851	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14291	77675851	113478425	5231	7377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	172					0	0	1	0	0	T	77675938	C	T	77675938	2	4	22	1	0	0	0	0	0	0	0	1	14350	610	22	2		2	SHROOM3	4	77675938	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87	77675938	113478338	5232	7378											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	135					0	0	1	0	0	A	77976531	G	A	77976531	2	1	22	1	0	0	0	0	0	0	0	1	2948	1165	41	2		2	CCNI	4	77976531	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	300593	77976531	113177745	5233	7379											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000502280.1_Missense_Mutation_p.S181N|CCNG2_ENST00000509972.1_Missense_Mutation_p.S181N|CCNG2_ENST00000395640.1_Missense_Mutation_p.S181N|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000354403.5_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													52	223					0	0	1	0	0	A	78082647	G	A	78082647	3	1	22	1	0	0	0	0	1	0	0	0	2946	971	34	2	556	2	CCNG2	4	78082647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106116	78082647	113071629	5234	7380											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78086953G>A	ENST00000316355.5	+	8	1267		c.e8-1		CCNG2_ENST00000502280.1_Splice_Site|CCNG2_ENST00000395640.1_Splice_Site|CCNG2_ENST00000497512.1_Intron|CCNG2_ENST00000354403.5_Intron	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													42	205					0	0	1	0	0	A	78086953	G	A	78086953	5	1	22	1	0	0	0	0	0	0	1	0	2946	1043	36	2	937	2	CCNG2	4	78086953	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4306	78086953	113067323	5235	7381											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	515					0	0	1	0	0	T	78650044	C	T	78650044	3	4	22	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	5236	7382											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	451					0	0	1	0	0	A	78650176	G	A	78650176	3	1	22	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	5237	7383											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	354					0	0	1	0	0	A	78650217	G	A	78650217	3	1	22	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	5238	7384											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	152					0	0	1	0	0	G	78695823	T	G	78695823	3	3	22	1	0	0	0	0	1	0	0	0	3646	1667	58	3	1532	3	CNOT6L	4	78695823	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	45606	78695823	112458453	5239	7385											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	294					0	0	1	0	0	C	78808417	T	C	78808417	3	2	22	1	0	0	0	0	1	0	0	0	9823	1841	64	3	548	3	MRPL1	4	78808417	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	112594	78808417	112345859	5240	7386											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	741					0	0	1	0	0	T	79343150	C	T	79343150	2	4	22	1	0	0	0	0	0	0	0	1	6076	883	31	1		1	FRAS1	4	79343150	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534733	79343150	111811126	5241	7387											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	133					0	0	1	0	0	C	79367898	T	C	79367898	2	2	22	1	0	0	0	0	0	0	0	1	6076	1538	54	3		3	FRAS1	4	79367898	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24748	79367898	111786378	5242	7388											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													192	805					0	0	1	0	0	T	79403572	C	T	79403572	4	4	22	1	0	0	0	0	0	1	0	0	6076	827	29	2	8940	2	FRAS1	4	79403572	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35674	79403572	111750704	5243	7389											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	373					0	0	1	0	0	T	79421054	C	T	79421054	4	4	22	1	0	0	0	0	0	1	0	0	6076	644	23	1	9612	1	FRAS1	4	79421054	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17482	79421054	111733222	5244	7390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	123					0	0	1	0	0	G	79428591	T	G	79428591	3	3	22	1	0	0	0	0	1	0	0	0	6076	1838	64	3	9654	3	FRAS1	4	79428591	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7537	79428591	111725685	5245	7391											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	129					0	0	1	0	0	A	79461814	G	A	79461814	3	1	22	1	0	0	0	0	1	0	0	0	6076	1058	37	1	11944	1	FRAS1	4	79461814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33223	79461814	111692462	5246	7392											
BMP2K	55589	broad.mit.edu	37	chr4	79792161	79792169	+	In_Frame_Del	DEL	CAGCACCAC	CAGCACCAC	-													agcagcagcagcagcagcagCagcaccaccaccaccaccac					rs2114202	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79792161_79792169delCAGCACCAC	ENST00000335016.5	+	11	1622_1630	c.1456_1464delCAGCACCAC	c.(1456-1464)del	p.QHH486del	BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	486	Gln/His-rich.		Q -> H (in dbSNP:rs2114202).	Missing (in Ref. 2; CAB70863).		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						gcagcagcagcagcaccaccaccaccacc	0.488													9	327	---	---	---	---						-	79792169	CAGCACCAC	-	79792161	7	5	22	1	0	1	0	1	0	0	0	0	1459	711	25	0	1498	0	BMP2K	4	79792161	In_Frame_Del	DEL	CAGCACCAC	TCGA-IB-7651-01A-11D-2154-08	330347	79792161	111362115	5247	7393											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	374					0	0	1	0	0	A	79832926	T	A	79832926	3	1	22	1	0	0	0	0	1	0	0	0	1459	1490	52	5	3325	5	BMP2K	4	79832926	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	40765	79832926	111321350	5248	7394											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	433					4.09166e-32	4.82809e-32	1	1	0	A	80328744	C	A	80328744	3	1	22	1	0	0	0	0	1	0	0	0	6463	681	24	2	1054	2	GK2	4	80328744	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	495818	80328744	110825532	5249	7395											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	422					0	0	1	0	0	T	80328787	C	T	80328787	3	4	22	1	0	0	0	0	1	0	0	0	6463	565	20	2	1097	2	GK2	4	80328787	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43	80328787	110825489	5250	7396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	188					0	0	1	0	0	A	80329323	G	A	80329323	3	1	22	1	0	0	0	0	1	0	0	0	6463	1116	39	1	1633	1	GK2	4	80329323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	536	80329323	110824953	5251	7397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504452.1_Missense_Mutation_p.S253I|PRDM8_ENST00000415738.2_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)	49	300					9.86064e-34	1.16979e-33	1	1	0	T	81123374	G	T	81123374	3	4	22	1	0	0	0	0	1	0	0	0	12514	971	34	2	768	2	PRDM8	4	81123374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	794051	81123374	110030902	5252	7398											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508675.1_Missense_Mutation_p.R106H|C4orf22_ENST00000512931.1_3'UTR	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													52	250					0	0	1	0	0	A	81504321	G	A	81504321	3	1	22	1	0	0	0	0	1	0	0	0	2270	1087	38	1	327	1	C4orf22	4	81504321	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	380947	81504321	109649955	5253	7399											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													138	741					2.40396e-54	3.00087e-54	1	1	0	A	81967122	C	A	81967122	3	1	22	1	0	0	0	0	1	0	0	0	1460	912	32	2	553	2	BMP3	4	81967122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	462801	81967122	109187154	5254	7400											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													151	733					0	0	1	0	0	A	81967161	T	A	81967161	3	1	22	1	0	0	0	0	1	0	0	0	1460	1667	58	5	592	5	BMP3	4	81967161	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39	81967161	109187115	5255	7401											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	735					9.16793e-09	9.60025e-09	1	1	0	A	81974600	C	A	81974600	2	1	22	1	0	0	0	0	0	0	0	1	1460	668	24	2		2	BMP3	4	81974600	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7439	81974600	109179676	5256	7402											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.G392S|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													21	445					0	0	1	0	0	T	82065465	C	T	82065465	3	4	22	1	0	0	0	0	1	0	0	0	12575	652	23	1	1154	1	PRKG2	4	82065465	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90865	82065465	109088811	5257	7403											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83411247G>T	ENST00000449862.2	-	7	826	c.508C>A	c.(508-510)Ctg>Atg	p.L170M	TMEM150C_ENST00000508701.1_3'UTR|TMEM150C_ENST00000515780.1_Missense_Mutation_p.L170M	NM_001080506.1	NP_001073975.1	B9EJG8	T150C_HUMAN	transmembrane protein 150C	170						integral to membrane				ovary(1)	1						GATGCCGACAGAATAACCCGT	0.453													82	348					1.68136e-41	2.04314e-41	1	1	0	T	83411247	G	T	83411247	3	4	22	1	0	0	0	0	1	0	0	0	16129	933	33	2	249	2	TMEM150C	4	83411247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1345782	83411247	107743029	5258	7404											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000326950.5_Silent_p.R1110R|SEC31A_ENST00000443462.2_Silent_p.R1129R|SEC31A_ENST00000500777.2_Silent_p.R996R|SEC31A_ENST00000505472.1_Silent_p.R1180R|SEC31A_ENST00000448323.1_Silent_p.R1149R|SEC31A_ENST00000355196.2_Silent_p.R1149R|SEC31A_ENST00000311785.7_Silent_p.R1035R|SEC31A_ENST00000509142.1_Silent_p.R1035R|SEC31A_ENST00000505984.1_Silent_p.R1095R|SEC31A_ENST00000513858.1_Silent_p.R996R|SEC31A_ENST00000395310.2_Silent_p.R1149R|SEC31A_ENST00000348405.4_Silent_p.R1110R|SEC31A_ENST00000508502.1_Silent_p.R1134R|SEC31A_ENST00000264405.5_Silent_p.R898R			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													126	719					0	0	1	0	0	G	83742226	A	G	83742226	2	3	22	1	0	0	0	0	0	0	0	1	14052	30	2	3		3	SEC31A	4	83742226	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	330979	83742226	107412050	5259	7405											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355196.2_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_ENST00000311785.7_Nonsense_Mutation_p.G494*|SEC31A_ENST00000500777.2_Nonsense_Mutation_p.G494*|SEC31A_ENST00000395310.2_Nonsense_Mutation_p.G494*|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.G494*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.G266*			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													17	186					2.23348e-06	2.30073e-06	1	1	0	A	83784500	C	A	83784500	4	1	22	1	0	0	0	0	0	1	0	0	14052	690	24	2	2246	2	SEC31A	4	83784500	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42274	83784500	107369776	5260	7406											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355196.2_Silent_p.V240V|SEC31A_ENST00000505984.1_Silent_p.V240V|SEC31A_ENST00000508479.1_Silent_p.V240V|SEC31A_ENST00000348405.4_Silent_p.V240V|SEC31A_ENST00000311785.7_Silent_p.V240V|SEC31A_ENST00000500777.2_Silent_p.V240V|SEC31A_ENST00000395310.2_Silent_p.V240V|SEC31A_ENST00000505472.1_Silent_p.V240V|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000513858.1_Silent_p.V240V|SEC31A_ENST00000326950.5_Silent_p.V240V|SEC31A_ENST00000509142.1_Silent_p.V240V|SEC31A_ENST00000508502.1_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													59	202					0	0	1	0	0	T	83793159	C	T	83793159	2	4	22	1	0	0	0	0	0	0	0	1	14052	813	29	2		2	SEC31A	4	83793159	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8659	83793159	107361117	5261	7407	43	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355196.2_Silent_p.R237R|SEC31A_ENST00000505984.1_Silent_p.R237R|SEC31A_ENST00000508479.1_Silent_p.R237R|SEC31A_ENST00000348405.4_Silent_p.R237R|SEC31A_ENST00000311785.7_Silent_p.R237R|SEC31A_ENST00000500777.2_Silent_p.R237R|SEC31A_ENST00000395310.2_Silent_p.R237R|SEC31A_ENST00000505472.1_Silent_p.R237R|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000513858.1_Silent_p.R237R|SEC31A_ENST00000326950.5_Silent_p.R237R|SEC31A_ENST00000509142.1_Silent_p.R237R|SEC31A_ENST00000508502.1_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													50	207					0	0	1	0	0	T	83793168	C	T	83793168	2	4	22	1	0	0	0	0	0	0	0	1	14052	494	18	2		2	SEC31A	4	83793168	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9	83793168	107361108	5262	7408	43	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	354					1.07363e-35	1.28291e-35	1	1	0	A	83822022	C	A	83822022	3	1	22	1	0	0	0	0	1	0	0	0	15911	681	24	2	69	2	THAP9	4	83822022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28854	83822022	107332254	5263	7409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	518					1.32035e-51	1.6395e-51	1	1	0	A	83838940	C	A	83838940	3	1	22	1	0	0	0	0	1	0	0	0	15911	564	20	2	1593	2	THAP9	4	83838940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16918	83838940	107315336	5264	7410											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395282.2_3'UTR|LIN54_ENST00000510557.1_Missense_Mutation_p.V191I|LIN54_ENST00000446851.2_Missense_Mutation_p.V191I|LIN54_ENST00000395283.2_Missense_Mutation_p.V323I|LIN54_ENST00000505397.1_Missense_Mutation_p.V412I|LIN54_ENST00000506560.1_Missense_Mutation_p.V323I|LIN54_ENST00000442461.2_Missense_Mutation_p.V191I	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													143	552					0	0	1	0	0	T	83861050	C	T	83861050	3	4	22	1	0	0	0	0	1	0	0	0	8850	478	17	2	1047	2	LIN54	4	83861050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22110	83861050	107293226	5265	7411											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Silent_p.T148T|FAM175A_ENST00000505489.1_5'UTR	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													130	471					0	0	1	0	0	C	84390190	T	C	84390190	2	2	22	1	0	0	0	0	0	0	0	1	5527	1683	59	3		3	FAM175A	4	84390190	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	529140	84390190	106764086	5266	7412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Missense_Mutation_p.S139F|FAM175A_ENST00000505489.1_5'UTR	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													141	524					0	0	1	0	0	A	84390218	G	A	84390218	3	1	22	1	0	0	0	0	1	0	0	0	5527	1174	41	2	682	2	FAM175A	4	84390218	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28	84390218	106764058	5267	7413											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000506553.1_Nonsense_Mutation_p.R99*|FAM175A_ENST00000505489.1_5'UTR	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													104	392					0	0	1	0	0	A	84391390	G	A	84391390	4	1	22	1	0	0	0	0	0	1	0	0	5527	1066	37	1	807	1	FAM175A	4	84391390	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1172	84391390	106762886	5268	7414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	482					0	0	1	0	0	T	85600086	C	T	85600086	3	4	22	1	0	0	0	0	1	0	0	0	17330	797	28	2	463	2	WDFY3	4	85600086	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1208696	85600086	105554190	5269	7415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	279					0	0	1	0	0	A	85605150	G	A	85605150	2	1	22	1	0	0	0	0	0	0	0	1	17330	1136	40	1		1	WDFY3	4	85605150	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5064	85605150	105549126	5270	7416											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	275					0	0	1	0	0	T	85617954	C	T	85617954	2	4	22	1	0	0	0	0	0	0	0	1	17330	796	28	2		2	WDFY3	4	85617954	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12804	85617954	105536322	5271	7417											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	698					0	0	1	0	0	T	85715716	C	T	85715716	3	4	22	1	0	0	0	0	1	0	0	0	17330	884	31	1	7329	1	WDFY3	4	85715716	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97762	85715716	105438560	5272	7418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	370					0	0	1	0	0	C	85750255	A	C	85750255	2	2	22	1	0	0	0	0	0	0	0	1	17330	1	1	3		3	WDFY3	4	85750255	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34539	85750255	105404021	5273	7419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	356					0	0	1	0	0	A	85750273	G	A	85750273	2	1	22	1	0	0	0	0	0	0	0	1	17330	1045	37	1		1	WDFY3	4	85750273	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18	85750273	105404003	5274	7420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	223					0	0	1	0	0	G	85758135	T	G	85758135	3	3	22	1	0	0	0	0	1	0	0	0	17330	1783	62	3	10348	3	WDFY3	4	85758135	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7862	85758135	105396141	5275	7421											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	204					0	0	1	0	0	A	86491742	G	A	86491742	2	1	22	1	0	0	0	0	0	0	0	1	870	1190	42	2		2	ARHGAP24	4	86491742	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	733607	86491742	104662534	5276	7422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264343.4_Missense_Mutation_p.V63A|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.V61A|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													48	218					0	0	1	0	0	C	86863294	T	C	86863294	3	2	22	1	0	0	0	0	1	0	0	0	870	1696	59	3	597	3	ARHGAP24	4	86863294	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	371552	86863294	104290982	5277	7423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264343.4_Nonsense_Mutation_p.R406*|ARHGAP24_ENST00000395183.2_Nonsense_Mutation_p.R404*	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													86	356					0	0	1	0	0	T	86916302	C	T	86916302	4	4	22	1	0	0	0	0	0	1	0	0	870	876	31	1	1641	1	ARHGAP24	4	86916302	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53008	86916302	104237974	5278	7424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000411767.2_Missense_Mutation_p.S245F|PTPN13_ENST00000427191.2_Missense_Mutation_p.S245F|PTPN13_ENST00000511467.1_Missense_Mutation_p.S245F|PTPN13_ENST00000316707.6_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													15	89					0	0	1	0	0	T	87622493	C	T	87622493	3	4	22	1	0	0	0	0	1	0	0	0	12832	855	30	2	756	2	PTPN13	4	87622493	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	706191	87622493	103531783	5279	7425											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000411767.2_Missense_Mutation_p.Y407H|PTPN13_ENST00000427191.2_Missense_Mutation_p.Y407H|PTPN13_ENST00000511467.1_Missense_Mutation_p.Y407H|PTPN13_ENST00000316707.6_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													6	39					0	0	1	0	0	C	87637706	T	C	87637706	3	2	22	1	0	0	0	0	1	0	0	0	12832	1754	61	3	1245	3	PTPN13	4	87637706	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15213	87637706	103516570	5280	7426											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000411767.2_Missense_Mutation_p.K1020Q|PTPN13_ENST00000427191.2_Missense_Mutation_p.K1020Q|PTPN13_ENST00000511467.1_Missense_Mutation_p.K1020Q|PTPN13_ENST00000316707.6_Intron	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													17	90					0	0	1	0	0	C	87672030	A	C	87672030	3	2	22	1	0	0	0	0	1	0	0	0	12832	15	1	3	3124	3	PTPN13	4	87672030	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34324	87672030	103482246	5281	7427											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	101					0	0	1	0	0	C	87752952	A	C	87752952	3	2	22	1	0	0	0	0	1	0	0	0	14433	101	4	3	571	3	SLC10A6	4	87752952	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	80922	87752952	103401324	5282	7428											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	425					0.000978159	0.000988919	1	1	0	A	87809352	C	A	87809352	4	1	22	1	0	0	0	0	0	1	0	0	2281	864	30	2	219	2	C4orf36	4	87809352	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56400	87809352	103344924	5283	7429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	385					0	0	1	0	0	A	87968170	G	A	87968170	2	1	22	1	0	0	0	0	0	0	0	1	355	1103	39	1		1	AFF1	4	87968170	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158818	87968170	103186106	5284	7430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	135					5.03518e-11	5.3609e-11	1	1	0	A	88035526	C	A	88035526	3	1	22	1	0	0	0	0	1	0	0	0	355	681	24	2	1604	2	AFF1	4	88035526	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67356	88035526	103118750	5285	7431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	145					7.45023e-12	7.97024e-12	1	1	0	A	88035561	C	A	88035561	3	1	22	1	0	0	0	0	1	0	0	0	355	796	28	2	1639	2	AFF1	4	88035561	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	88035561	103118715	5286	7432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	205					0	0	1	0	0	T	88036157	C	T	88036157	2	4	22	1	0	0	0	0	0	0	0	1	355	767	27	1		1	AFF1	4	88036157	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	596	88036157	103118119	5287	7433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	399					0	0	1	0	0	T	88047336	C	T	88047336	3	4	22	1	0	0	0	0	1	0	0	0	355	739	26	2	2730	2	AFF1	4	88047336	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11179	88047336	103106940	5288	7434											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	270					0	0	1	0	0	A	88231425	G	A	88231425	3	1	22	1	0	0	0	0	1	0	0	0	7423	1059	37	1	128	1	HSD17B13	4	88231425	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	184089	88231425	102922851	5289	7435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	246					0	0	1	0	0	A	88261694	G	A	88261694	4	1	22	1	0	0	0	0	0	1	0	0	7421	1328	46	2	150	2	HSD17B11	4	88261694	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30269	88261694	102892582	5290	7436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	101					0	0	1	0	0	T	88278563	C	T	88278563	3	4	22	1	0	0	0	0	1	0	0	0	7421	797	28	2	351	2	HSD17B11	4	88278563	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16869	88278563	102875713	5291	7437											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	248					0	0	1	0	0	A	88359522	G	A	88359522	2	1	22	1	0	0	0	0	0	0	0	1	10794	1045	37	1		1	NUDT9	4	88359522	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80959	88359522	102794754	5292	7438											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503414.1_Nonsense_Mutation_p.R492*|SPARCL1_ENST00000282470.6_Nonsense_Mutation_p.R617*	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													78	326					0	0	1	0	0	A	88400699	G	A	88400699	4	1	22	1	0	0	0	0	0	1	0	0	15052	1095	38	1	153	1	SPARCL1	4	88400699	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41177	88400699	102753577	5293	7439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503414.1_Missense_Mutation_p.S240N|SPARCL1_ENST00000282470.6_Missense_Mutation_p.S365N	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													72	272					0	0	1	0	0	T	88414858	C	T	88414858	3	4	22	1	0	0	0	0	1	0	0	0	15052	797	28	2	932	2	SPARCL1	4	88414858	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14159	88414858	102739418	5294	7440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503414.1_Silent_p.I32I|SPARCL1_ENST00000282470.6_Silent_p.I157I	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													136	643					7.8029e-68	9.88841e-68	1	1	0	T	88415481	G	T	88415481	2	4	22	1	0	0	0	0	0	0	0	1	15052	1280	45	2		2	SPARCL1	4	88415481	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	623	88415481	102738795	5295	7441											
SPARCL1	8404	broad.mit.edu	37	chr4	88415552	88415553	+	Frame_Shift_Ins	INS	-	-	T													aaatcagtgttctctgagagINSttttttctcctgaggctcac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88415552_88415553insT	ENST00000418378.1	-	5	970_971	c.399_400insA	c.(397-402)aatctcfs	p.NL133fs	SPARCL1_ENST00000503414.1_Frame_Shift_Ins_p.NL8fs|SPARCL1_ENST00000282470.6_Frame_Shift_Ins_p.NL133fs	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	133					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)		TTCTCTGAGAGTTTTTTCTCCT	0.401													39	157	---	---	---	---						T	88415553	-	T	88415552	7	5	22	1	0	1	1	0	0	0	0	0	15052	1029	36	0	1626	0	SPARCL1	4	88415552	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	71	88415552	102738724	5296	7442											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	472					3.676e-42	4.47322e-42	1	1	0	A	88731834	C	A	88731834	3	1	22	1	0	0	0	0	1	0	0	0	7519	913	32	2	341	2	IBSP	4	88731834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	316282	88731834	102422442	5297	7443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	192					0	0	1	0	0	T	88732530	A	T	88732530	3	4	22	1	0	0	0	0	1	0	0	0	7519	101	4	5	444	5	IBSP	4	88732530	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	696	88732530	102421746	5298	7444											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	331					0	0	1	0	0	T	88959637	C	T	88959637	3	4	22	1	0	0	0	0	1	0	0	0	12014	739	26	2	1092	2	PKD2	4	88959637	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227107	88959637	102194639	5299	7445											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	391					0	0	1	0	0	T	88968016	C	T	88968016	2	4	22	1	0	0	0	0	0	0	0	1	12014	874	31	1		1	PKD2	4	88968016	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8379	88968016	102186260	5300	7446											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	276					0	0	1	0	0	T	89015812	C	T	89015812	5	4	22	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	5301	7447											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	227					0	0	1	0	0	A	89016716	G	A	89016716	2	1	22	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	5302	7448											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	246					2.23044e-30	2.6157e-30	1	1	0	A	89020601	C	A	89020601	5	1	22	1	0	0	0	0	0	0	1	0	69	927	32	2	620	2	ABCG2	4	89020601	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3885	89020601	102133675	5303	7449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	455					0	0	1	0	0	A	89034473	G	A	89034473	2	1	22	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	5304	7450											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89199713G>T	ENST00000295908.6	-	2	412	c.23C>A	c.(22-24)aCt>aAt	p.T8N	PPM1K_ENST00000506423.1_Missense_Mutation_p.T8N|PPM1K_ENST00000513546.2_5'UTR|PPM1K_ENST00000315194.4_Missense_Mutation_p.T8N	NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	8					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													42	156					3.43241e-23	3.89856e-23	1	1	0	T	89199713	G	T	89199713	3	4	22	1	0	0	0	0	1	0	0	0	12392	1029	36	2	1119	2	PPM1K	4	89199713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165240	89199713	101954563	5305	7451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264346.7_Missense_Mutation_p.E179D|HERC6_ENST00000273960.3_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													8	258					3.09899e-07	3.21319e-07	1	1	0	T	89311904	G	T	89311904	3	4	22	1	0	0	0	0	1	0	0	0	7103	991	35	2	348	2	HERC6	4	89311904	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112191	89311904	101842372	5306	7452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264346.7_Missense_Mutation_p.R284I|HERC6_ENST00000273960.3_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													47	228					5.73435e-26	6.59582e-26	1	1	0	T	89317258	G	T	89317258	3	4	22	1	0	0	0	0	1	0	0	0	7103	942	33	2	670	2	HERC6	4	89317258	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5354	89317258	101837018	5307	7453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	365					0	0	1	0	0	T	89389501	C	T	89389501	2	4	22	1	0	0	0	0	0	0	0	1	7102	738	26	2		2	HERC5	4	89389501	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72243	89389501	101764775	5308	7454											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	402					0	0	1	0	0	A	89425454	G	A	89425454	3	1	22	1	0	0	0	0	1	0	0	0	7102	1116	39	1	2736	1	HERC5	4	89425454	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35953	89425454	101728822	5309	7455											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	126					0	0	1	0	0	T	89426989	C	T	89426989	3	4	22	1	0	0	0	0	1	0	0	0	7102	768	27	1	3125	1	HERC5	4	89426989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1535	89426989	101727287	5310	7456											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	437					0	0	1	0	0	A	89571092	G	A	89571092	3	1	22	1	0	0	0	0	1	0	0	0	7100	1319	46	2	334	2	HERC3	4	89571092	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144103	89571092	101583184	5311	7457											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503556.1_Silent_p.G55G|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000513837.1_Silent_p.G41G|FAM13A_ENST00000395002.2_Silent_p.G69G|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000508369.1_Silent_p.G69G	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													79	324					0	0	1	0	0	C	89708990	T	C	89708990	2	2	22	1	0	0	0	0	0	0	0	1	5482	1770	62	3		3	FAM13A	4	89708990	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	137898	89708990	101445286	5312	7458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	303					0	0	1	0	0	G	90034783	T	G	90034783	3	3	22	1	0	0	0	0	1	0	0	0	15956	1838	64	3	660	3	TIGD2	4	90034783	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	325793	90034783	101119493	5313	7459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90169370C>A	ENST00000333209.3	-	2	2410	c.1892G>T	c.(1891-1893)aGc>aTc	p.S631I		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	631										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													11	633					1.58986e-06	1.64048e-06	1	1	0	A	90169370	C	A	90169370	3	1	22	1	0	0	0	0	1	0	0	0	6772	797	28	2	442	2	GPRIN3	4	90169370	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134587	90169370	100984906	5314	7460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90169956C>T	ENST00000333209.3	-	2	1824	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	436										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													90	441					0	0	1	0	0	T	90169956	C	T	90169956	3	4	22	1	0	0	0	0	1	0	0	0	6772	922	32	2	1028	2	GPRIN3	4	90169956	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	586	90169956	100984320	5315	7461											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90170801G>A	ENST00000333209.3	-	2	979	c.461C>T	c.(460-462)tCc>tTc	p.S154F		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	154										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													119	515					0	0	1	0	0	A	90170801	G	A	90170801	3	1	22	1	0	0	0	0	1	0	0	0	6772	1174	41	2	1873	2	GPRIN3	4	90170801	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	845	90170801	100983475	5316	7462											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.F306S|MMRN1_ENST00000264790.2_Missense_Mutation_p.F564S			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													70	290					0	0	1	0	0	C	90856522	T	C	90856522	3	2	22	1	0	0	0	0	1	0	0	0	9719	1841	64	3	1713	3	MMRN1	4	90856522	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	685721	90856522	100297754	5317	7463											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394981.1_Silent_p.R371R|MMRN1_ENST00000508372.1_Silent_p.R810R|MMRN1_ENST00000264790.2_Silent_p.R1068R			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													58	275					0	0	1	0	0	G	90872841	A	G	90872841	2	3	22	1	0	0	0	0	0	0	0	1	9719	272	10	3		3	MMRN1	4	90872841	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16319	90872841	100281435	5318	7464											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394981.1_Missense_Mutation_p.A405T|MMRN1_ENST00000508372.1_Missense_Mutation_p.A844T|MMRN1_ENST00000264790.2_Missense_Mutation_p.A1102T			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													98	459					0	0	1	0	0	A	90874186	G	A	90874186	3	1	22	1	0	0	0	0	1	0	0	0	9719	1203	42	2	3334	2	MMRN1	4	90874186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1345	90874186	100280090	5319	7465											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	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													12	304					0	0	1	0	0	G	94006190	A	G	94006190	3	3	22	1	0	0	0	0	1	0	0	0	6813	217	8	3	299	3	GRID2	4	94006190	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3132004	94006190	97148086	5320	7466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	204					0	0	1	0	0	A	94344105	G	A	94344105	3	1	22	1	0	0	0	0	1	0	0	0	6813	943	33	2	1569	2	GRID2	4	94344105	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	337915	94344105	96810171	5321	7467											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	413					4.58075e-42	5.57258e-42	1	1	0	A	94547517	C	A	94547517	3	1	22	1	0	0	0	0	1	0	0	0	6813	565	20	2	2345	2	GRID2	4	94547517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	203412	94547517	96606759	5322	7468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	314					0	0	1	0	0	T	94750764	C	T	94750764	2	4	22	1	0	0	0	0	0	0	0	1	1111	668	24	2		2	ATOH1	4	94750764	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	203247	94750764	96403512	5323	7469											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													129	587					0	0	1	0	0	T	95174129	C	T	95174129	3	4	22	1	0	0	0	0	1	0	0	0	14826	565	20	2	1282	2	SMARCAD1	4	95174129	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423365	95174129	95980147	5324	7470											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	213					2.1956e-27	2.54205e-27	1	1	0	A	95204434	C	A	95204434	4	1	22	1	0	0	0	0	0	1	0	0	14826	747	26	2	2977	2	SMARCAD1	4	95204434	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30305	95204434	95949842	5325	7471											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	374					0	0	1	0	0	T	96104083	C	T	96104083	3	4	22	1	0	0	0	0	1	0	0	0	17053	681	24	2	391	2	UNC5C	4	96104083	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	899649	96104083	95050193	5326	7472											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	527					0	0	1	0	0	A	96106260	G	A	96106260	3	1	22	1	0	0	0	0	1	0	0	0	17053	1087	38	1	587	1	UNC5C	4	96106260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2177	96106260	95048016	5327	7473											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	358					0	0	1	0	0	C	96140199	T	C	96140199	2	2	22	1	0	0	0	0	0	0	0	1	17053	1509	53	3		3	UNC5C	4	96140199	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33939	96140199	95014077	5328	7474											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	155					0	0	1	0	0	C	96163599	A	C	96163599	2	2	22	1	0	0	0	0	0	0	0	1	17053	175	7	3		3	UNC5C	4	96163599	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23400	96163599	94990677	5329	7475											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	101					0	0	1	0	0	T	96163662	C	T	96163662	2	4	22	1	0	0	0	0	0	0	0	1	17053	755	27	1		1	UNC5C	4	96163662	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63	96163662	94990614	5330	7476											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	83					0	0	1	0	0	A	96163682	G	A	96163682	3	1	22	1	0	0	0	0	1	0	0	0	17053	1087	38	1	1829	1	UNC5C	4	96163682	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	96163682	94990594	5331	7477											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	181					0	0	1	0	0	G	96761415	A	G	96761415	2	3	22	1	0	0	0	0	0	0	0	1	11712	98	4	3		3	PDHA2	4	96761415	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	597733	96761415	94392861	5332	7478											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000408900.3_Missense_Mutation_p.A33S|RAP1GDS1_ENST00000512857.1_3'UTR|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.A34S	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								27	117					7.26314e-15	7.90818e-15	1	1	0	T	99214651	G	T	99214651	3	4	22	1	0	0	0	0	1	0	0	0	13091	971	34	2	106	2	RAP1GDS1	4	99214651	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2453236	99214651	91939625	5333	7479											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504432.1_Silent_p.Q68Q|EIF4E_ENST00000505992.1_Silent_p.Q40Q|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													11	676					0	0	1	0	0	T	99823032	C	T	99823032	2	4	22	1	0	0	0	0	0	0	0	1	5056	912	32	2		2	EIF4E	4	99823032	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	608381	99823032	91331244	5334	7480											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	387					0	0	1	0	0	T	99969935	C	T	99969935	3	4	22	1	0	0	0	0	1	0	0	0	9536	739	26	2	873	2	METAP1	4	99969935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146903	99969935	91184341	5335	7481											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	135					0	0	1	0	0	T	99997895	C	T	99997895	3	4	22	1	0	0	0	0	1	0	0	0	310	739	26	2	620	2	ADH5	4	99997895	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27960	99997895	91156381	5336	7482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	104					0	0	1	0	0	T	99998042	C	T	99998042	3	4	22	1	0	0	0	0	1	0	0	0	310	507	18	2	767	2	ADH5	4	99998042	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147	99998042	91156234	5337	7483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000265512.7_Missense_Mutation_p.T133I|ADH4_ENST00000505590.1_Missense_Mutation_p.T152I|ADH4_ENST00000423445.1_Missense_Mutation_p.T152I			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													63	245					0	0	1	0	0	A	100057801	G	A	100057801	3	1	22	1	0	0	0	0	1	0	0	0	309	1261	44	2	764	2	ADH4	4	100057801	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59759	100057801	91096475	5338	7484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.R104H|ADH6_ENST00000394897.1_Intron|ADH6_ENST00000237653.7_Missense_Mutation_p.R313H	NM_001102470.1	NP_001095940.1	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													71	390					0	0	1	0	0	T	100128629	C	T	100128629	3	4	22	1	0	0	0	0	1	0	0	0	311	536	19	1	205	1	ADH6	4	100128629	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70828	100128629	91025647	5339	7485											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100140355C>A	ENST00000394897.1	-	0	37				RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000394899.2_De_novo_Start_OutOfFrame|ADH6_ENST00000237653.7_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													7	200					2.7689e-08	2.89045e-08	1	1	0	A	100140355	C	A	100140355	1	1	22	1	0	0	0	0	0	0	0	0	311	696	24	2		2	ADH6	4	100140355	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11726	100140355	91013921	5340	7486											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	280					0	0	1	0	0	C	100205930	T	C	100205930	3	2	22	1	0	0	0	0	1	0	0	0	306	1580	55	3	861	3	ADH1A	4	100205930	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	65575	100205930	90948346	5341	7487											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													152	595					3.75851e-85	4.81663e-85	1	1	0	A	100208091	C	A	100208091	3	1	22	1	0	0	0	0	1	0	0	0	306	507	18	2	980	2	ADH1A	4	100208091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2161	100208091	90946185	5342	7488											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	426					0	0	1	0	0	A	100231991	G	A	100231991	3	1	22	1	0	0	0	0	1	0	0	0	307	1087	38	1	101	1	ADH1B	4	100231991	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23900	100231991	90922285	5343	7489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													166	686					0	0	1	0	0	A	100232703	G	A	100232703	2	1	22	1	0	0	0	0	0	0	0	1	307	1306	46	2		2	ADH1B	4	100232703	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	712	100232703	90921573	5344	7490											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000209665.4_Missense_Mutation_p.Y276H|ADH7_ENST00000482593.1_Missense_Mutation_p.Y207H|ADH7_ENST00000476959.1_Missense_Mutation_p.Y284H			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													55	261					0	0	1	0	0	G	100341725	A	G	100341725	3	3	22	1	0	0	0	0	1	0	0	0	312	449	16	3	350	3	ADH7	4	100341725	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	109022	100341725	90812551	5345	7491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000209665.4_Silent_p.S205S|ADH7_ENST00000482593.1_Silent_p.S136S|ADH7_ENST00000476959.1_Silent_p.S213S			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													35	162					2.42023e-17	2.67004e-17	1	1	0	T	100341936	G	T	100341936	2	4	22	1	0	0	0	0	0	0	0	1	312	1335	47	2		2	ADH7	4	100341936	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	211	100341936	90812340	5346	7492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000209665.4_Missense_Mutation_p.T83I|ADH7_ENST00000482593.1_Missense_Mutation_p.T14I|ADH7_ENST00000476959.1_Missense_Mutation_p.T91I			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													16	867					0	0	1	0	0	A	100349696	G	A	100349696	3	1	22	1	0	0	0	0	1	0	0	0	312	1029	36	2	940	2	ADH7	4	100349696	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7760	100349696	90804580	5347	7493											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000209665.4_Missense_Mutation_p.R60H|ADH7_ENST00000482593.1_5'UTR|ADH7_ENST00000476959.1_Missense_Mutation_p.R68H			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													40	583					0	0	1	0	0	T	100349765	C	T	100349765	3	4	22	1	0	0	0	0	1	0	0	0	312	768	27	1	1009	1	ADH7	4	100349765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69	100349765	90804511	5348	7494											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	97					0	0	1	0	0	A	100761522	T	A	100761522	3	1	22	1	0	0	0	0	1	0	0	0	4263	1435	50	5	311	5	DAPP1	4	100761522	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	411757	100761522	90392754	5349	7495											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	25	186					0	0	1	0	0	C	100870520	T	C	100870520	2	2	22	1	0	0	0	0	0	0	0	1	6972	1654	58	3		3	H2AFZ	4	100870520	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	108998	100870520	90283756	5350	7496	44	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	31	175					0	0	1	0	0	T	100870530	C	T	100870530	3	4	22	1	0	0	0	0	1	0	0	0	6972	536	19	1	303	1	H2AFZ	4	100870530	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10	100870530	90283746	5351	7497	44	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	531					0	0	1	0	0	T	100870869	C	T	100870869	3	4	22	1	0	0	0	0	1	0	0	0	6972	855	30	2	370	2	H2AFZ	4	100870869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	339	100870869	90283407	5352	7498											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000323055.6_Missense_Mutation_p.D459G|PPP3CA_ENST00000394853.4_Missense_Mutation_p.D501G|PPP3CA_ENST00000523694.2_Missense_Mutation_p.D444G|PPP3CA_ENST00000512215.1_Missense_Mutation_p.D279G	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													163	746					0	0	1	0	0	C	101947056	T	C	101947056	3	2	22	1	0	0	0	0	1	0	0	0	12446	1667	58	3	37	3	PPP3CA	4	101947056	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1076187	101947056	89207220	5353	7499											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000323055.6_Silent_p.L56L|PPP3CA_ENST00000394853.4_Silent_p.L56L|PPP3CA_ENST00000523694.2_Intron|PPP3CA_ENST00000512215.1_Silent_p.L56L	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													70	319					0	0	1	0	0	A	102117166	G	A	102117166	2	1	22	1	0	0	0	0	0	0	0	1	12446	962	34	2		2	PPP3CA	4	102117166	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	170110	102117166	89037110	5354	7500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000444316.2_Missense_Mutation_p.V119A|BANK1_ENST00000322953.4_Missense_Mutation_p.V149A|BANK1_ENST00000428908.1_Intron			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													72	280					0	0	1	0	0	C	102751340	T	C	102751340	3	2	22	1	0	0	0	0	1	0	0	0	1307	1638	57	3	452	3	BANK1	4	102751340	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	634174	102751340	88402936	5355	7501											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394820.4_Silent_p.V864V|NFKB1_ENST00000505458.1_Silent_p.V864V|NFKB1_ENST00000600343.1_Silent_p.V684V	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													46	274					2.29192e-23	2.60423e-23	1	1	0	A	103534584	C	A	103534584	2	1	22	1	0	0	0	0	0	0	0	1	10422	900	32	2		2	NFKB1	4	103534584	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	783244	103534584	87619692	5356	7502											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													147	661					1.03592e-72	1.31811e-72	1	1	0	A	103611867	C	A	103611867	3	1	22	1	0	0	0	0	1	0	0	0	9269	796	28	2	1952	2	MANBA	4	103611867	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77283	103611867	87542409	5357	7503											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	168					0	0	1	0	0	A	104003289	G	A	104003289	2	1	22	1	0	0	0	0	0	0	0	1	1389	1049	37	1		1	BDH2	4	104003289	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	391422	104003289	87150987	5358	7504											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	123					0	0	1	0	0	A	104041484	G	A	104041484	4	1	22	1	0	0	0	0	0	1	0	0	3252	1066	37	1	979	1	CENPE	4	104041484	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38195	104041484	87112792	5359	7505											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	157					0	0	1	0	0	T	104074400	C	T	104074400	3	4	22	1	0	0	0	0	1	0	0	0	3252	739	26	2	5164	2	CENPE	4	104074400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32916	104074400	87079876	5360	7506											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	401					1.16068e-44	1.42057e-44	1	1	0	A	104577398	C	A	104577398	4	1	22	1	0	0	0	0	0	1	0	0	15564	690	24	2	568	2	TACR3	4	104577398	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	502998	104577398	86576878	5361	7507											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	603					0	0	1	0	0	A	105412215	G	A	105412215	3	1	22	1	0	0	0	0	1	0	0	0	4121	1174	41	2	366	2	CXXC4	4	105412215	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	834817	105412215	85742061	5362	7508											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413648.2_Silent_p.F125F|TET2_ENST00000305737.2_Silent_p.F125F|TET2_ENST00000380013.4_Silent_p.F125F|TET2_ENST00000394764.1_Silent_p.F125F|TET2_ENST00000545826.1_Silent_p.F125F|TET2_ENST00000540549.1_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								10	248					0	0	1	0	0	T	106155474	C	T	106155474	2	4	22	1	0	0	0	0	0	0	0	1	15829	883	31	1		1	TET2	4	106155474	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	743259	106155474	84998802	5363	7509											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413648.2_Missense_Mutation_p.L590I|TET2_ENST00000305737.2_Missense_Mutation_p.L590I|TET2_ENST00000380013.4_Missense_Mutation_p.L590I|TET2_ENST00000394764.1_Missense_Mutation_p.L590I|TET2_ENST00000545826.1_Missense_Mutation_p.L590I|TET2_ENST00000540549.1_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								34	331					6.00712e-18	6.65163e-18	1	1	0	A	106156867	C	A	106156867	3	1	22	1	0	0	0	0	1	0	0	0	15829	913	32	2	1770	2	TET2	4	106156867	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1393	106156867	84997409	5364	7510											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394730.3_Missense_Mutation_p.T84A|GSTCD_ENST00000360505.5_Missense_Mutation_p.T171A|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000507281.1_Missense_Mutation_p.T84A|GSTCD_ENST00000394728.3_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													143	491					0	0	1	0	0	G	106640301	A	G	106640301	3	3	22	1	0	0	0	0	1	0	0	0	6876	43	2	3	517	3	GSTCD	4	106640301	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	483434	106640301	84513975	5365	7511											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394730.3_Missense_Mutation_p.Q137H|GSTCD_ENST00000360505.5_Missense_Mutation_p.Q224H|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000507281.1_Missense_Mutation_p.Q137H|GSTCD_ENST00000394728.3_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													67	349					1.69475e-38	2.04315e-38	1	1	0	T	106640462	G	T	106640462	3	4	22	1	0	0	0	0	1	0	0	0	6876	991	35	2	678	2	GSTCD	4	106640462	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	106640462	84513814	5366	7512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000305572.8_Silent_p.P123P|NPNT_ENST00000506666.1_Silent_p.P153P|NPNT_ENST00000514622.1_Silent_p.P123P|NPNT_ENST00000453617.2_Silent_p.P140P|NPNT_ENST00000427316.2_Silent_p.P153P|NPNT_ENST00000513430.1_3'UTR	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													121	478					0	0	1	0	0	A	106858269	G	A	106858269	2	1	22	1	0	0	0	0	0	0	0	1	10638	1103	39	1		1	NPNT	4	106858269	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217807	106858269	84296007	5367	7513											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:107170109G>T	ENST00000273980.4	-	9	1136	c.689C>A	c.(688-690)gCt>gAt	p.A230D	TBCK_ENST00000432496.2_Missense_Mutation_p.A230D|TBCK_ENST00000394708.2_Missense_Mutation_p.A230D|TBCK_ENST00000394706.3_Missense_Mutation_p.A191D|TBCK_ENST00000361687.4_Missense_Mutation_p.A167D			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	230	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													33	125					2.85442e-18	3.16582e-18	1	1	0	T	107170109	G	T	107170109	3	4	22	1	0	0	0	0	1	0	0	0	15696	971	34	2	2068	2	TBCK	4	107170109	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	311840	107170109	83984167	5368	7514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442366.1_Missense_Mutation_p.A123V|AIMP1_ENST00000358008.3_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													10	135					0	0	1	0	0	T	107249377	C	T	107249377	3	4	22	1	0	0	0	0	1	0	0	0	430	768	27	1	454	1	AIMP1	4	107249377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79268	107249377	83904899	5369	7515											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	364					0	0	1	0	0	G	108535481	T	G	108535481	3	3	22	1	0	0	0	0	1	0	0	0	11481	1841	64	3	79	3	PAPSS1	4	108535481	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1286104	108535481	82618795	5370	7516											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	225					6.2361e-21	7.00342e-21	1	1	0	T	108615089	G	T	108615089	4	4	22	1	0	0	0	0	0	1	0	0	11481	963	34	2	1665	2	PAPSS1	4	108615089	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79608	108615089	82539187	5371	7517											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	359					5.50884e-06	5.65664e-06	1	1	0	T	108866490	G	T	108866490	3	4	22	1	0	0	0	0	1	0	0	0	4198	991	35	2	861	2	CYP2U1	4	108866490	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	251401	108866490	82287786	5372	7518											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	296					0	0	1	0	0	A	109010379	G	A	109010379	3	1	22	1	0	0	0	0	1	0	0	0	8753	1087	38	1	866	1	LEF1	4	109010379	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143889	109010379	82143897	5373	7519											
LEF1	51176	broad.mit.edu	37	chr4	109088884	109088884	+	Frame_Shift_Del	DEL	C	C	-													cgtggcgcagagttccgggtCccccccgccgccgccacctc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109088884delC	ENST00000379951.2	-	1	1228	c.40delG	c.(40-42)acfs	p.D14fs	LEF1_ENST00000265165.1_Frame_Shift_Del_p.D14fs|LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000438313.2_Frame_Shift_Del_p.D14fs	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	14	Asp/Glu-rich (acidic).|CTNNB1-binding (By similarity).				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)		AGTTCCGGGTCCCCCCCGCCG	0.637													7	964	---	---	---	---						-	109088884	C	-	109088884	7	5	22	1	0	1	0	1	0	0	0	0	8753	855	30	0	1300	0	LEF1	4	109088884	Frame_Shift_Del	DEL	C	TCGA-IB-7651-01A-11D-2154-08	78505	109088884	82065392	5374	7520											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394665.1_Missense_Mutation_p.A94T|RPL34_ENST00000394667.3_Missense_Mutation_p.A94T|RPL34_ENST00000506397.1_Missense_Mutation_p.A94T|RPL34_ENST00000502534.1_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													14	127					0	0	1	0	0	A	109546294	G	A	109546294	3	1	22	1	0	0	0	0	1	0	0	0	13635	1319	46	2	294	2	RPL34	4	109546294	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	457410	109546294	81607982	5375	7521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399127.1_Missense_Mutation_p.G443V|COL25A1_ENST00000399126.1_Missense_Mutation_p.G470V	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													109	429					3.60366e-59	4.52357e-59	1	1	0	A	109769940	C	A	109769940	3	1	22	1	0	0	0	0	1	0	0	0	3707	855	30	2	687	2	COL25A1	4	109769940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	223646	109769940	81384336	5376	7522											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399127.1_Missense_Mutation_p.G434E|COL25A1_ENST00000399126.1_Missense_Mutation_p.G461E	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													38	207					0	0	1	0	0	T	109773399	C	T	109773399	3	4	22	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	5377	7523											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504968.2_Missense_Mutation_p.R1124W|SEC24B_ENST00000399100.2_Missense_Mutation_p.R1059W	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													67	314					0	0	1	0	0	T	110452568	C	T	110452568	3	4	22	1	0	0	0	0	1	0	0	0	14049	527	19	1	3358	1	SEC24B	4	110452568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	679169	110452568	80701708	5378	7524											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000502772.1_5'UTR|PLA2G12A_ENST00000502283.1_Silent_p.P84P	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													34	159					0	0	1	0	0	T	110639872	C	T	110639872	2	4	22	1	0	0	0	0	0	0	0	1	12038	871	31	1		1	PLA2G12A	4	110639872	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187304	110639872	80514404	5379	7525											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512148.1_Missense_Mutation_p.D512N|CFI_ENST00000394635.3_Missense_Mutation_p.D527N	NM_000204.3	NP_000195.2	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													160	778					0	0	1	0	0	T	110662246	C	T	110662246	3	4	22	1	0	0	0	0	1	0	0	0	3311	884	31	1	200	1	CFI	4	110662246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22374	110662246	80492030	5380	7526											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512148.1_Missense_Mutation_p.A424T|CFI_ENST00000394635.3_Missense_Mutation_p.A439T	NM_000204.3	NP_000195.2	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													10	439					0	0	1	0	0	T	110667516	C	T	110667516	3	4	22	1	0	0	0	0	1	0	0	0	3311	768	27	1	472	1	CFI	4	110667516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5270	110667516	80486760	5381	7527											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000594814.1_Missense_Mutation_p.D526G|LRIT3_ENST00000409621.2_Missense_Mutation_p.D343G|LRIT3_ENST00000379920.3_Missense_Mutation_p.D481G			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													89	441					0	0	1	0	0	G	110791482	A	G	110791482	3	3	22	1	0	0	0	0	1	0	0	0	8994	275	10	3	1452	3	LRIT3	4	110791482	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	123966	110791482	80362794	5382	7528											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000594814.1_Missense_Mutation_p.I599S|LRIT3_ENST00000409621.2_Missense_Mutation_p.I416S|LRIT3_ENST00000379920.3_Missense_Mutation_p.I554S			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													64	344					0	0	1	0	0	G	110791701	T	G	110791701	3	3	22	1	0	0	0	0	1	0	0	0	8994	1493	52	3	1671	3	LRIT3	4	110791701	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	219	110791701	80362575	5383	7529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000509793.1_Missense_Mutation_p.S150F|EGF_ENST00000502723.1_3'UTR	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													48	185					0	0	1	0	0	T	110864531	C	T	110864531	3	4	22	1	0	0	0	0	1	0	0	0	4988	855	30	2	459	2	EGF	4	110864531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72830	110864531	80289745	5384	7530											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	263					0	0	1	0	0	T	110897320	C	T	110897320	3	4	22	1	0	0	0	0	1	0	0	0	4988	739	26	2	2032	2	EGF	4	110897320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32789	110897320	80256956	5385	7531											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	249					0	0	1	0	0	A	110972708	G	A	110972708	3	1	22	1	0	0	0	0	1	0	0	0	5106	1203	42	2	217	2	ELOVL6	4	110972708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75388	110972708	80181568	5386	7532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													164	699					0	0	1	0	0	A	111397683	G	A	111397683	3	1	22	1	0	0	0	0	1	0	0	0	5156	1203	42	2	115	2	ENPEP	4	111397683	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	424975	111397683	79756593	5387	7533											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	356					0	0	1	0	0	A	111431456	G	A	111431456	3	1	22	1	0	0	0	0	1	0	0	0	5156	1174	41	2	1272	2	ENPEP	4	111431456	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33773	111431456	79722820	5388	7534											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	176					0	0	1	0	0	A	111436590	G	A	111436590	3	1	22	1	0	0	0	0	1	0	0	0	5156	1001	35	2	1531	2	ENPEP	4	111436590	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5134	111436590	79717686	5389	7535											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113199274C>T	ENST00000361717.2	-	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	100	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													43	208					0	0	1	0	0	T	113199274	C	T	113199274	3	4	22	1	0	0	0	0	1	0	0	0	15954	797	28	2	259	2	TIFA	4	113199274	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1762684	113199274	77955002	5390	7536											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113199287G>A	ENST00000361717.2	-	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	96	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													45	224					0	0	1	0	0	A	113199287	G	A	113199287	2	1	22	1	0	0	0	0	0	0	0	1	15954	933	33	2		2	TIFA	4	113199287	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13	113199287	77954989	5391	7537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	218					0	0	1	0	0	G	113303625	A	G	113303625	3	3	22	1	0	0	0	0	1	0	0	0	540	15	1	3	199	3	ALPK1	4	113303625	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	104338	113303625	77850651	5392	7538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	312					0	0	1	0	0	C	113352444	A	C	113352444	3	2	22	1	0	0	0	0	1	0	0	0	540	188	7	3	1775	3	ALPK1	4	113352444	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48819	113352444	77801832	5393	7539											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	238					0	0	1	0	0	A	113352781	G	A	113352781	3	1	22	1	0	0	0	0	1	0	0	0	540	1174	41	2	2112	2	ALPK1	4	113352781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	337	113352781	77801495	5394	7540											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	186					0	0	1	0	0	G	113360948	A	G	113360948	3	3	22	1	0	0	0	0	1	0	0	0	540	14	1	3	3504	3	ALPK1	4	113360948	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8167	113360948	77793328	5395	7541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	110					5.35356e-11	5.69577e-11	1	1	0	T	113502905	G	T	113502905	3	4	22	1	0	0	0	0	1	0	0	0	2269	1029	36	2	2014	2	C4orf21	4	113502905	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141957	113502905	77651371	5396	7542											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	239					0	0	1	0	0	A	113538718	G	A	113538718	3	1	22	1	0	0	0	0	1	0	0	0	2269	942	33	2	3926	2	C4orf21	4	113538718	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35813	113538718	77615558	5397	7543											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	414					0	0	1	0	0	C	113539394	T	C	113539394	3	2	22	1	0	0	0	0	1	0	0	0	2269	1667	58	3	4602	3	C4orf21	4	113539394	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	676	113539394	77614882	5398	7544											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264366.6_Silent_p.S10S|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_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													25	177					0	0	1	0	0	T	113970914	C	T	113970914	2	4	22	1	0	0	0	0	0	0	0	1	617	767	27	1		1	ANK2	4	113970914	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	431520	113970914	77183362	5399	7545											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264366.6_Missense_Mutation_p.Q172H|ANK2_ENST00000506722.1_Missense_Mutation_p.Q151H|ANK2_ENST00000394537.3_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													92	485					4.05997e-52	5.04755e-52	1	1	0	T	114158175	G	T	114158175	3	4	22	1	0	0	0	0	1	0	0	0	617	962	34	2	563	2	ANK2	4	114158175	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	187261	114158175	76996101	5400	7546											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264366.6_Missense_Mutation_p.A218D|ANK2_ENST00000506722.1_Missense_Mutation_p.A197D|ANK2_ENST00000394537.3_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													104	535					1.43697e-34	1.7097e-34	1	1	0	A	114158312	C	A	114158312	3	1	22	1	0	0	0	0	1	0	0	0	617	797	28	2	700	2	ANK2	4	114158312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137	114158312	76995964	5401	7547											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264366.6_Missense_Mutation_p.H238R|ANK2_ENST00000506722.1_Missense_Mutation_p.H217R|ANK2_ENST00000394537.3_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													67	306					0	0	1	0	0	G	114161660	A	G	114161660	3	3	22	1	0	0	0	0	1	0	0	0	617	159	6	3	768	3	ANK2	4	114161660	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3348	114161660	76992616	5402	7548											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264366.6_Missense_Mutation_p.A258V|ANK2_ENST00000506722.1_Missense_Mutation_p.A237V|ANK2_ENST00000394537.3_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													28	313					0	0	1	0	0	T	114161720	C	T	114161720	3	4	22	1	0	0	0	0	1	0	0	0	617	797	28	2	828	2	ANK2	4	114161720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	114161720	76992556	5403	7549											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264366.6_Silent_p.T296T|ANK2_ENST00000506722.1_Silent_p.T275T|ANK2_ENST00000394537.3_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													48	200					0	0	1	0	0	C	114163362	T	C	114163362	2	2	22	1	0	0	0	0	0	0	0	1	617	1509	53	3		3	ANK2	4	114163362	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1642	114163362	76990914	5404	7550											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264366.6_Missense_Mutation_p.R1158W|ANK2_ENST00000506722.1_Missense_Mutation_p.R1182W|ANK2_ENST00000394537.3_Missense_Mutation_p.R1191W|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													28	356					0	0	1	0	0	T	114257193	C	T	114257193	3	4	22	1	0	0	0	0	1	0	0	0	617	759	27	1	3754	1	ANK2	4	114257193	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93831	114257193	76897083	5405	7551											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264366.6_Silent_p.L1380L|ANK2_ENST00000506722.1_Silent_p.L1404L|ANK2_ENST00000510275.2_Silent_p.L65L|ANK2_ENST00000394537.3_Silent_p.L1413L|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													50	229					0	0	1	0	0	T	114264287	C	T	114264287	2	4	22	1	0	0	0	0	0	0	0	1	617	912	32	2		2	ANK2	4	114264287	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7094	114264287	76889989	5406	7552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264366.6_Silent_p.S3090S|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|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													47	217					0	0	1	0	0	T	114279143	C	T	114279143	2	4	22	1	0	0	0	0	0	0	0	1	617	668	24	2		2	ANK2	4	114279143	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14856	114279143	76875133	5407	7553											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264366.6_Missense_Mutation_p.S3550R|ANK2_ENST00000506722.1_Missense_Mutation_p.S1489R|ANK2_ENST00000510275.2_Missense_Mutation_p.S150R|ANK2_ENST00000394537.3_Missense_Mutation_p.S1498R|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													8	78					0.00307968	0.00310409	1	1	0	A	114282046	C	A	114282046	3	1	22	1	0	0	0	0	1	0	0	0	617	796	28	2	10968	2	ANK2	4	114282046	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2903	114282046	76872230	5408	7554											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114430832C>A	ENST00000454265.2	-	13	1805		c.e13-1		CAMK2D_ENST00000515496.1_Splice_Site|CAMK2D_ENST00000394526.2_Splice_Site|CAMK2D_ENST00000394524.3_Splice_Site|CAMK2D_ENST00000514328.1_Intron|CAMK2D_ENST00000429180.1_Splice_Site|CAMK2D_ENST00000505990.1_Splice_Site|CAMK2D_ENST00000508738.1_Splice_Site|CAMK2D_ENST00000394522.3_Splice_Site|CAMK2D_ENST00000379773.2_Splice_Site|CAMK2D_ENST00000418639.2_Splice_Site|CAMK2D_ENST00000342666.5_Splice_Site|CAMK2D_ENST00000511664.1_Splice_Site|CAMK2D_ENST00000296402.5_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													22	210					1.22574e-08	1.28258e-08	1	1	0	A	114430832	C	A	114430832	5	1	22	1	0	0	0	0	0	0	1	0	2619	811	28	2	672	2	CAMK2D	4	114430832	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148786	114430832	76723444	5409	7555											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001121646.1	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													7	369					0	0	1	0	0	G	115597280	T	G	115597280	3	3	22	1	0	0	0	0	1	0	0	0	17025	1722	60	3	1480	3	UGT8	4	115597280	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1166448	115597280	75556996	5410	7556											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	289					0	0	1	0	0	C	115769425	G	C	115769425	3	2	22	1	0	0	0	0	1	0	0	0	10305	1377	48	5	756	5	NDST4	4	115769425	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	172145	115769425	75384851	5411	7557											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	232					3.05417e-18	3.38677e-18	1	1	0	T	115856370	G	T	115856370	3	4	22	1	0	0	0	0	1	0	0	0	10305	933	33	2	1126	2	NDST4	4	115856370	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86945	115856370	75297906	5412	7558											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	306					0	0	1	0	0	C	118006158	A	C	118006158	3	2	22	1	0	0	0	0	1	0	0	0	16513	14	1	3	721	3	TRAM1L1	4	118006158	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2149788	118006158	73148118	5413	7559											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	557					0	0	1	0	0	T	118975655	C	T	118975655	3	4	22	1	0	0	0	0	1	0	0	0	10304	681	24	2	592	2	NDST3	4	118975655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	969497	118975655	72178621	5414	7560											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	378					0	0	1	0	0	T	119145758	C	T	119145758	3	4	22	1	0	0	0	0	1	0	0	0	10304	565	20	2	1674	2	NDST3	4	119145758	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170103	119145758	72008518	5415	7561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	370					0	0	1	0	0	T	119203216	C	T	119203216	3	4	22	1	0	0	0	0	1	0	0	0	12665	661	23	1	128	1	PRSS12	4	119203216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57458	119203216	71951060	5416	7562											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	408					2.16136e-38	2.60442e-38	1	1	0	A	119203366	C	A	119203366	3	1	22	1	0	0	0	0	1	0	0	0	12665	797	28	2	278	2	PRSS12	4	119203366	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150	119203366	71950910	5417	7563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	211					0	0	1	0	0	G	119234403	A	G	119234403	3	3	22	1	0	0	0	0	1	0	0	0	12665	43	2	3	1213	3	PRSS12	4	119234403	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31037	119234403	71919873	5418	7564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	260					0	0	1	0	0	T	119253000	C	T	119253000	3	4	22	1	0	0	0	0	1	0	0	0	12665	768	27	1	1825	1	PRSS12	4	119253000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18597	119253000	71901276	5419	7565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	398					0	0	1	0	0	G	119978917	A	G	119978917	3	3	22	1	0	0	0	0	1	0	0	0	15514	101	4	3	3744	3	SYNPO2	4	119978917	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	725917	119978917	71175359	5420	7566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	342					0	0	1	0	0	T	120072119	C	T	120072119	2	4	22	1	0	0	0	0	0	0	0	1	10144	796	28	2		2	MYOZ2	4	120072119	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93202	120072119	71082157	5421	7567											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	411					0	0	1	0	0	G	120079184	T	G	120079184	3	3	22	1	0	0	0	0	1	0	0	0	10144	1493	52	3	264	3	MYOZ2	4	120079184	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7065	120079184	71075092	5422	7568											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	229					0	0	1	0	0	G	120085546	A	G	120085546	3	3	22	1	0	0	0	0	1	0	0	0	10144	43	2	3	571	3	MYOZ2	4	120085546	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6362	120085546	71068730	5423	7569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	387					0	0	1	0	0	A	120177606	G	A	120177606	3	1	22	1	0	0	0	0	1	0	0	0	17144	1145	40	1	515	1	USP53	4	120177606	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92060	120177606	70976670	5424	7570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	241					0	0	1	0	0	A	120190845	G	A	120190845	5	1	22	1	0	0	0	0	0	0	1	0	17144	985	34	2	1330	2	USP53	4	120190845	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13239	120190845	70963431	5425	7571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394439.1_Missense_Mutation_p.R525W|PDE5A_ENST00000264805.5_Missense_Mutation_p.R535W	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													55	281					0	0	1	0	0	A	120446754	G	A	120446754	3	1	22	1	0	0	0	0	1	0	0	0	11691	1057	37	1	938	1	PDE5A	4	120446754	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	255909	120446754	70707522	5426	7572											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394439.1_Missense_Mutation_p.E437K|PDE5A_ENST00000264805.5_Missense_Mutation_p.E447K	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													22	309					0	0	1	0	0	T	120463721	C	T	120463721	3	4	22	1	0	0	0	0	1	0	0	0	11691	893	31	1	1210	1	PDE5A	4	120463721	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16967	120463721	70690555	5427	7573											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394439.1_Missense_Mutation_p.A360T|PDE5A_ENST00000264805.5_Missense_Mutation_p.A370T	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													67	301					0	0	1	0	0	T	120474867	C	T	120474867	3	4	22	1	0	0	0	0	1	0	0	0	11691	710	25	2	1449	2	PDE5A	4	120474867	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11146	120474867	70679409	5428	7574											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120981442G>A	ENST00000296509.5	-	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)	150	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													10	133					0	0	1	0	0	A	120981442	G	A	120981442	3	1	22	1	0	0	0	0	1	0	0	0	9194	1294	45	2	172	2	MAD2L1	4	120981442	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	506575	120981442	70172834	5429	7575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428209.2_Silent_p.V420V|PRDM5_ENST00000515109.1_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													8	301					0	0	1	0	0	A	121702388	G	A	121702388	2	1	22	1	0	0	0	0	0	0	0	1	12512	1161	41	2		2	PRDM5	4	121702388	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	720946	121702388	69451888	5430	7576											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428209.2_Silent_p.L416L|PRDM5_ENST00000515109.1_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													44	254					0	0	1	0	0	G	121702402	A	G	121702402	2	3	22	1	0	0	0	0	0	0	0	1	12512	98	4	3		3	PRDM5	4	121702402	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14	121702402	69451874	5431	7577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428209.2_Missense_Mutation_p.G205E|PRDM5_ENST00000515109.1_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													46	188					0	0	1	0	0	T	121739544	C	T	121739544	3	4	22	1	0	0	0	0	1	0	0	0	12512	623	22	2	1326	2	PRDM5	4	121739544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37142	121739544	69414732	5432	7578											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428209.2_Missense_Mutation_p.R77Q|PRDM5_ENST00000515109.1_Missense_Mutation_p.R77Q|PRDM5_ENST00000394435.2_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													293	1353					0	0	1	0	0	T	121774643	C	T	121774643	3	4	22	1	0	0	0	0	1	0	0	0	12512	652	23	1	1718	1	PRDM5	4	121774643	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35099	121774643	69379633	5433	7579											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000509841.1_Missense_Mutation_p.A225V|TNIP3_ENST00000507879.1_Missense_Mutation_p.A218V|TNIP3_ENST00000057513.3_Missense_Mutation_p.A148V			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													55	290					0	0	1	0	0	A	122075755	G	A	122075755	3	1	22	1	0	0	0	0	1	0	0	0	16376	1087	38	1	562	1	TNIP3	4	122075755	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	301112	122075755	69078521	5434	7580											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000509841.1_Missense_Mutation_p.T190P|TNIP3_ENST00000507879.1_Missense_Mutation_p.T183P|TNIP3_ENST00000057513.3_Missense_Mutation_p.T113P			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													69	1612					0	0	1	0	0	G	122078275	T	G	122078275	3	3	22	1	0	0	0	0	1	0	0	0	16376	1667	58	3	672	3	TNIP3	4	122078275	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2520	122078275	69076001	5435	7581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000509841.1_Missense_Mutation_p.A79S|TNIP3_ENST00000507879.1_Missense_Mutation_p.A72S|TNIP3_ENST00000057513.3_Missense_Mutation_p.A2S			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													8	374					3.09899e-07	3.21319e-07	1	1	0	A	122085277	C	A	122085277	3	1	22	1	0	0	0	0	1	0	0	0	16376	739	26	2	1017	2	TNIP3	4	122085277	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7002	122085277	69068999	5436	7582											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Missense_Mutation_p.A254T|EXOSC9_ENST00000243498.5_Missense_Mutation_p.A254T			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													26	91					0	0	1	0	0	A	122732759	G	A	122732759	3	1	22	1	0	0	0	0	1	0	0	0	5349	1087	38	1	790	1	EXOSC9	4	122732759	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	647482	122732759	68421517	5437	7583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001228.1	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													40	477					0	0	1	0	0	T	122740651	C	T	122740651	3	4	22	1	0	0	0	0	1	0	0	0	2932	913	32	2	436	2	CCNA2	4	122740651	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7892	122740651	68413625	5438	7584											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001228.1	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													103	430					0	0	1	0	0	A	122743722	G	A	122743722	3	1	22	1	0	0	0	0	1	0	0	0	2932	1087	38	1	1033	1	CCNA2	4	122743722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3071	122743722	68410554	5439	7585											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001228.1	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													87	394					3.05217e-42	3.71447e-42	1	1	0	T	122743779	G	T	122743779	3	4	22	1	0	0	0	0	1	0	0	0	2932	1000	35	2	1090	2	CCNA2	4	122743779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57	122743779	68410497	5440	7586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				18	269					1.01871e-10	1.082e-10	1	1	0	T	122782737	G	T	122782737	3	4	22	1	0	0	0	0	1	0	0	0	1339	942	33	2	1953	2	BBS7	4	122782737	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38958	122782737	68371539	5441	7587											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000388738.3_Missense_Mutation_p.V640I|KIAA1109_ENST00000455637.1_Missense_Mutation_p.V640I|KIAA1109_ENST00000495260.1_Intron			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													39	167					0	0	1	0	0	A	123130479	G	A	123130479	3	1	22	1	0	0	0	0	1	0	0	0	8250	1145	40	1	1980	1	KIAA1109	4	123130479	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	347742	123130479	68023797	5442	7588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	159					0	0	1	0	0	G	123249281	A	G	123249281	3	3	22	1	0	0	0	0	1	0	0	0	8250	275	10	3	11272	3	KIAA1109	4	123249281	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	118802	123249281	67904995	5443	7589											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	218					0	0	1	0	0	A	123258035	G	A	123258035	5	1	22	1	0	0	0	0	0	0	1	0	8250	985	34	2	12284	2	KIAA1109	4	123258035	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8754	123258035	67896241	5444	7590											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	315					2.81731e-10	2.98404e-10	1	1	0	A	123258084	C	A	123258084	3	1	22	1	0	0	0	0	1	0	0	0	8250	681	24	2	12333	2	KIAA1109	4	123258084	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49	123258084	67896192	5445	7591											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	409					0	0	1	0	0	T	123274089	C	T	123274089	3	4	22	1	0	0	0	0	1	0	0	0	8250	681	24	2	14194	2	KIAA1109	4	123274089	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16005	123274089	67880187	5446	7592											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	328					0	0	1	0	0	A	123277838	G	A	123277838	3	1	22	1	0	0	0	0	1	0	0	0	8250	1377	48	2	14889	2	KIAA1109	4	123277838	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3749	123277838	67876438	5447	7593											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000388724.2_Missense_Mutation_p.P97L|ADAD1_ENST00000388725.2_Missense_Mutation_p.P79L|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													82	443					0	0	1	0	0	T	123302264	C	T	123302264	3	4	22	1	0	0	0	0	1	0	0	0	230	681	24	2	296	2	ADAD1	4	123302264	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24426	123302264	67852012	5448	7594											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000388724.2_Missense_Mutation_p.A521V|ADAD1_ENST00000388725.2_Missense_Mutation_p.A514V	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													15	180					0	0	1	0	0	T	123342523	C	T	123342523	3	4	22	1	0	0	0	0	1	0	0	0	230	797	28	2	1633	2	ADAD1	4	123342523	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40259	123342523	67811753	5449	7595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	360					0	0	1	0	0	C	123542063	T	C	123542063	3	2	22	1	0	0	0	0	1	0	0	0	7714	1696	59	3	404	3	IL21	4	123542063	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	199540	123542063	67612213	5450	7596											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				57	251					1.73933e-33	2.06204e-33	1	1	0	A	123663084	C	A	123663084	3	1	22	1	0	0	0	0	1	0	0	0	1335	478	17	2	39	2	BBS12	4	123663084	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121021	123663084	67491192	5451	7597											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				27	139					0	0	1	0	0	T	123664001	C	T	123664001	2	4	22	1	0	0	0	0	0	0	0	1	1335	805	28	2		2	BBS12	4	123664001	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	917	123664001	67490275	5452	7598											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				6	259					0	0	1	0	0	G	123664988	T	G	123664988	3	3	22	1	0	0	0	0	1	0	0	0	1335	1829	64	3	1943	3	BBS12	4	123664988	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	987	123664988	67489288	5453	7599											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*		NM_002006.4	NP_001997.5	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													73	442					0	0	1	0	0	T	123813399	C	T	123813399	4	4	22	1	0	0	0	0	0	1	0	0	5881	528	19	1	725	1	FGF2	4	123813399	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148411	123813399	67340877	5454	7600											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123848884T>C	ENST00000274008.3	+	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	87					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													15	480					0	0	1	0	0	C	123848884	T	C	123848884	2	2	22	1	0	0	0	0	0	0	0	1	15067	1722	60	3		3	SPATA5	4	123848884	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35485	123848884	67305392	5455	7601											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123855775G>T	ENST00000274008.3	+	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	343					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													54	207					4.78724e-31	5.62855e-31	1	1	0	T	123855775	G	T	123855775	3	4	22	1	0	0	0	0	1	0	0	0	15067	962	34	2	1047	2	SPATA5	4	123855775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6891	123855775	67298501	5456	7602											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:124177183C>T	ENST00000274008.3	+	15	2422	c.2353C>T	c.(2353-2355)Cct>Tct	p.P785S		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	785					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													43	282					0	0	1	0	0	T	124177183	C	T	124177183	3	4	22	1	0	0	0	0	1	0	0	0	15067	739	26	2	2411	2	SPATA5	4	124177183	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	321408	124177183	66977093	5457	7603											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:124177323C>A	ENST00000274008.3	+	15	2562	c.2493C>A	c.(2491-2493)taC>taA	p.Y831*		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	831					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													73	334					2.26907e-38	2.73382e-38	1	1	0	A	124177323	C	A	124177323	4	1	22	1	0	0	0	0	0	1	0	0	15067	576	20	2	2551	2	SPATA5	4	124177323	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140	124177323	66976953	5458	7604											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													225	956					0	0	1	0	0	A	125590747	G	A	125590747	4	1	22	1	0	0	0	0	0	1	0	0	671	1066	37	1	608	1	ANKRD50	4	125590747	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1413424	125590747	65563529	5459	7605											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	380					0	0	1	0	0	A	125592066	G	A	125592066	3	1	22	1	0	0	0	0	1	0	0	0	671	1087	38	1	1927	1	ANKRD50	4	125592066	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1319	125592066	65562210	5460	7606											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													148	600					1.12603e-65	1.42405e-65	1	1	0	T	125599995	G	T	125599995	3	4	22	1	0	0	0	0	1	0	0	0	671	942	33	2	3719	2	ANKRD50	4	125599995	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7929	125599995	65554281	5461	7607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	45	163					0	0	1	0	0	T	126238257	C	T	126238257	3	4	22	1	0	0	0	0	1	0	0	0	5725	759	27	1	693	1	FAT4	4	126238257	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	638262	126238257	64916019	5462	7608											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	35	153					0	0	1	0	0	G	126239005	A	G	126239005	3	3	22	1	0	0	0	0	1	0	0	0	5725	391	14	3	1441	3	FAT4	4	126239005	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	748	126239005	64915271	5463	7609											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	348					0	0	1	0	0	G	126239656	A	G	126239656	3	3	22	1	0	0	0	0	1	0	0	0	5725	159	6	3	2092	3	FAT4	4	126239656	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	651	126239656	64914620	5464	7610											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	189					4.0181e-32	4.74151e-32	1	1	0	T	126240358	G	T	126240358	3	4	22	1	0	0	0	0	1	0	0	0	5725	1029	36	2	2794	2	FAT4	4	126240358	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	702	126240358	64913918	5465	7611											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													189	759					0	0	1	0	0	T	126240893	C	T	126240893	2	4	22	1	0	0	0	0	0	0	0	1	5725	883	31	1		1	FAT4	4	126240893	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	535	126240893	64913383	5466	7612											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	695					0	0	1	0	0	G	126241875	A	G	126241875	3	3	22	1	0	0	0	0	1	0	0	0	5725	391	14	3	4311	3	FAT4	4	126241875	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	982	126241875	64912401	5467	7613											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													166	750					0	0	1	0	0	T	126242165	C	T	126242165	2	4	22	1	0	0	0	0	0	0	0	1	5725	535	19	1		1	FAT4	4	126242165	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	290	126242165	64912111	5468	7614											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													151	666					1.19641e-65	1.51299e-65	1	1	0	T	126242264	G	T	126242264	3	4	22	1	0	0	0	0	1	0	0	0	5725	933	33	2	4700	2	FAT4	4	126242264	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99	126242264	64912012	5469	7615											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	501					0	0	1	0	0	A	126242553	G	A	126242553	3	1	22	1	0	0	0	0	1	0	0	0	5725	1029	36	2	4989	2	FAT4	4	126242553	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	289	126242553	64911723	5470	7616											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	492					0	0	1	0	0	C	126336699	T	C	126336699	3	2	22	1	0	0	0	0	1	0	0	0	5725	1725	60	3	6599	3	FAT4	4	126336699	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	94146	126336699	64817577	5471	7617											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	296					0	0	1	0	0	C	126336858	T	C	126336858	3	2	22	1	0	0	0	0	1	0	0	0	5725	1493	52	3	6758	3	FAT4	4	126336858	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	159	126336858	64817418	5472	7618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	458					0	0	1	0	0	A	126369632	G	A	126369632	2	1	22	1	0	0	0	0	0	0	0	1	5725	1103	39	1		1	FAT4	4	126369632	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32774	126369632	64784644	5473	7619											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	286					0	0	1	0	0	T	126371043	C	T	126371043	4	4	22	1	0	0	0	0	0	1	0	0	5725	876	31	1	8906	1	FAT4	4	126371043	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1411	126371043	64783233	5474	7620											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	309					0	0	1	0	0	T	126371527	C	T	126371527	3	4	22	1	0	0	0	0	1	0	0	0	5725	768	27	1	9390	1	FAT4	4	126371527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	484	126371527	64782749	5475	7621											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	375					0	0	1	0	0	A	126412394	G	A	126412394	3	1	22	1	0	0	0	0	1	0	0	0	5725	1319	46	2	14483	2	FAT4	4	126412394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40867	126412394	64741882	5476	7622											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	227					1.13205e-32	1.33805e-32	1	1	0	A	126412738	C	A	126412738	3	1	22	1	0	0	0	0	1	0	0	0	5725	796	28	2	14827	2	FAT4	4	126412738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	344	126412738	64741538	5477	7623											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128625399A>G	ENST00000335251.5	+	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	507										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													107	369					0	0	1	0	0	G	128625399	A	G	128625399	3	3	22	1	0	0	0	0	1	0	0	0	7830	275	10	3	1558	3	INTU	4	128625399	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2212661	128625399	62528877	5478	7624											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128632105G>T	ENST00000335251.5	+	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	803										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													83	277					2.05912e-35	2.45818e-35	1	1	0	T	128632105	G	T	128632105	3	4	22	1	0	0	0	0	1	0	0	0	7830	1145	40	4	2461	4	INTU	4	128632105	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6706	128632105	62522171	5479	7625											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													132	703					0	0	1	0	0	T	128688339	C	T	128688339	2	4	22	1	0	0	0	0	0	0	0	1	14550	518	18	2		2	SLC25A31	4	128688339	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56234	128688339	62465937	5480	7626											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128715243C>T	ENST00000296464.3	+	2	530	c.119C>T	c.(118-120)tCa>tTa	p.S40L	HSPA4L_ENST00000505726.1_Missense_Mutation_p.S14L|HSPA4L_ENST00000508776.1_Missense_Mutation_p.S40L|HSPA4L_ENST00000439123.2_Missense_Mutation_p.S71L	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	40					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													118	609					0	0	1	0	0	T	128715243	C	T	128715243	3	4	22	1	0	0	0	0	1	0	0	0	7456	838	29	2	125	2	HSPA4L	4	128715243	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26904	128715243	62439033	5481	7627											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000513090.1_Silent_p.P821P|PLK4_ENST00000514379.1_Silent_p.P812P|PLK4_ENST00000515069.1_Silent_p.P775P|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													37	186					2.20474e-14	2.39557e-14	1	1	0	A	128815033	C	A	128815033	2	1	22	1	0	0	0	0	0	0	0	1	12146	668	24	2		2	PLK4	4	128815033	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99790	128815033	62339243	5482	7628											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	337					0	0	1	0	0	C	128841803	A	C	128841803	4	2	22	1	0	0	0	0	0	1	0	0	9588	224	8	3	21	3	MFSD8	4	128841803	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26770	128841803	62312473	5483	7629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	199					0	0	1	0	0	T	128843022	C	T	128843022	2	4	22	1	0	0	0	0	0	0	0	1	9588	564	20	2		2	MFSD8	4	128843022	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1219	128843022	62311254	5484	7630											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000432347.2_Missense_Mutation_p.K38T|LARP1B_ENST00000427266.1_Missense_Mutation_p.K38T|LARP1B_ENST00000441387.1_Missense_Mutation_p.K38T|LARP1B_ENST00000394288.3_Missense_Mutation_p.K38T|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000512292.1_Missense_Mutation_p.K38T|LARP1B_ENST00000264584.5_Missense_Mutation_p.K38T	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													6	189					0	0	1	0	0	C	128999013	A	C	128999013	3	2	22	1	0	0	0	0	1	0	0	0	8668	72	3	3	119	3	LARP1B	4	128999013	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	155991	128999013	62155263	5485	7631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000432347.2_Missense_Mutation_p.R123Q|LARP1B_ENST00000427266.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000441387.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000394288.3_Missense_Mutation_p.R123Q|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000512292.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000264584.5_Missense_Mutation_p.R76Q	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													70	311					0	0	1	0	0	A	129012165	G	A	129012165	3	1	22	1	0	0	0	0	1	0	0	0	8668	1058	37	1	382	1	LARP1B	4	129012165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13152	129012165	62142111	5486	7632											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354456.3_5'UTR|LARP1B_ENST00000512292.1_Missense_Mutation_p.E501D|LARP1B_ENST00000264584.5_Missense_Mutation_p.E454D	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													77	364					0	0	1	0	0	T	129043322	A	T	129043322	3	4	22	1	0	0	0	0	1	0	0	0	8668	11	1	5	1626	5	LARP1B	4	129043322	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31157	129043322	62110954	5487	7633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000506199.1_3'UTR|LARP1B_ENST00000441387.1_3'UTR|LARP1B_ENST00000354456.3_Missense_Mutation_p.L256I|LARP1B_ENST00000264584.5_Missense_Mutation_p.L778I	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													9	281					5.4927e-09	5.7613e-09	1	1	0	A	129128500	C	A	129128500	3	1	22	1	0	0	0	0	1	0	0	0	8668	681	24	2	2709	2	LARP1B	4	129128500	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85178	129128500	62025776	5488	7634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413543.2_Nonsense_Mutation_p.W454*|PHF17_ENST00000452328.2_Nonsense_Mutation_p.W442*|PHF17_ENST00000512960.1_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													100	352					0	0	1	0	0	A	129783239	G	A	129783239	4	1	22	1	0	0	0	0	0	1	0	0	11876	1183	41	2	1392	2	PHF17	4	129783239	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	654739	129783239	61371037	5489	7635											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:130023756G>T	ENST00000281146.4	+	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													7	272					2.0095e-06	2.07161e-06	1	1	0	T	130023756	G	T	130023756	5	4	22	1	0	0	0	0	0	0	1	0	2278	956	33	2		2	C4orf33	4	130023756	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	240517	130023756	61130520	5490	7636											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:130032917C>A	ENST00000281146.4	+	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	191										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GGAATCAGACCTGTGGCTAAT	0.328													45	225					9.45407e-15	1.02924e-14	1	1	0	A	130032917	C	A	130032917	3	1	22	1	0	0	0	0	1	0	0	0	2278	680	24	2	589	2	C4orf33	4	130032917	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9161	130032917	61121359	5491	7637											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134071249T>G	ENST00000264360.4	+	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													79	327					0	0	1	0	0	G	134071249	T	G	134071249	1	3	22	1	0	0	0	0	0	0	0	0	11554	1508	52	3		3	PCDH10	4	134071249	Translation_Start_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4038332	134071249	57083027	5492	7638											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134071416C>A	ENST00000264360.4	+	1	947	c.121C>A	c.(121-123)Ctg>Atg	p.L41M		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	41	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													16	585					1.99824e-07	2.07512e-07	1	1	0	A	134071416	C	A	134071416	3	1	22	1	0	0	0	0	1	0	0	0	11554	912	32	2	123	2	PCDH10	4	134071416	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167	134071416	57082860	5493	7639											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134071914G>T	ENST00000264360.4	+	1	1445	c.619G>T	c.(619-621)Gga>Tga	p.G207*		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	207	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													68	245					1.34159e-35	1.60235e-35	1	1	0	T	134071914	G	T	134071914	4	4	22	1	0	0	0	0	0	1	0	0	11554	1001	35	2	621	2	PCDH10	4	134071914	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	498	134071914	57082362	5494	7640											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134072528T>G	ENST00000264360.4	+	1	2059	c.1233T>G	c.(1231-1233)aaT>aaG	p.N411K		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	411	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													247	1174					0	0	1	0	0	G	134072528	T	G	134072528	3	3	22	1	0	0	0	0	1	0	0	0	11554	1490	52	3	1235	3	PCDH10	4	134072528	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	614	134072528	57081748	5495	7641											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073073C>T	ENST00000264360.4	+	1	2604	c.1778C>T	c.(1777-1779)tCg>tTg	p.S593L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	593	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													71	273					0	0	1	0	0	T	134073073	C	T	134073073	3	4	22	1	0	0	0	0	1	0	0	0	11554	893	31	1	1780	1	PCDH10	4	134073073	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	545	134073073	57081203	5496	7642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073339G>A	ENST00000264360.4	+	1	2870	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	682	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													62	222					0	0	1	0	0	A	134073339	G	A	134073339	3	1	22	1	0	0	0	0	1	0	0	0	11554	1087	38	1	2046	1	PCDH10	4	134073339	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	266	134073339	57080937	5497	7643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073466C>T	ENST00000264360.4	+	1	2997	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	724					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													105	363					0	0	1	0	0	T	134073466	C	T	134073466	3	4	22	1	0	0	0	0	1	0	0	0	11554	893	31	1	2173	1	PCDH10	4	134073466	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127	134073466	57080810	5498	7644											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073477A>G	ENST00000264360.4	+	1	3008	c.2182A>G	c.(2182-2184)Atc>Gtc	p.I728V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	728					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													98	368					0	0	1	0	0	G	134073477	A	G	134073477	3	3	22	1	0	0	0	0	1	0	0	0	11554	217	8	3	2184	3	PCDH10	4	134073477	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11	134073477	57080799	5499	7645											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134084171C>A	ENST00000264360.4	+	4	3663	c.2837C>A	c.(2836-2838)gCt>gAt	p.A946D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	946					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													68	381					3.78398e-24	4.31794e-24	1	1	0	A	134084171	C	A	134084171	3	1	22	1	0	0	0	0	1	0	0	0	11554	797	28	2	2911	2	PCDH10	4	134084171	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10694	134084171	57070105	5500	7646											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000412923.2_Missense_Mutation_p.T998I|PCDH18_ENST00000510305.1_Missense_Mutation_p.T210I|PCDH18_ENST00000511115.1_Missense_Mutation_p.T179I|PCDH18_ENST00000507846.1_Missense_Mutation_p.T778I	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													70	299					0	0	1	0	0	A	138442595	G	A	138442595	3	1	22	1	0	0	0	0	1	0	0	0	11560	1261	44	2	415	2	PCDH18	4	138442595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4358424	138442595	52711681	5501	7647											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000412923.2_Missense_Mutation_p.R634Q|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R414Q	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													221	906					0	0	1	0	0	T	138451342	C	T	138451342	3	4	22	1	0	0	0	0	1	0	0	0	11560	884	31	1	1522	1	PCDH18	4	138451342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8747	138451342	52702934	5502	7648											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000412923.2_Missense_Mutation_p.K398E|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.K178E	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													88	377					0	0	1	0	0	C	138452051	T	C	138452051	3	2	22	1	0	0	0	0	1	0	0	0	11560	1763	61	3	2231	3	PCDH18	4	138452051	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	709	138452051	52702225	5503	7649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000412923.2_Missense_Mutation_p.T307P|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.T87P	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													43	203					0	0	1	0	0	G	138452324	T	G	138452324	3	3	22	1	0	0	0	0	1	0	0	0	11560	1667	58	3	2504	3	PCDH18	4	138452324	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	273	138452324	52701952	5504	7650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	334					2.51111e-31	2.95558e-31	1	1	0	A	139163042	C	A	139163042	3	1	22	1	0	0	0	0	1	0	0	0	14749	855	30	2	1371	2	SLC7A11	4	139163042	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	710718	139163042	51991234	5505	7651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398947.1_Missense_Mutation_p.G263C|NAA15_ENST00000480277.2_3'UTR	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													8	172					5.18039e-06	5.32547e-06	1	1	0	T	140270711	G	T	140270711	3	4	22	1	0	0	0	0	1	0	0	0	10166	1000	35	2	813	2	NAA15	4	140270711	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1107669	140270711	50883565	5506	7652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140599697G>A	ENST00000265498.1	+	2	311	c.58_splice	c.e2-1	p.S20_splice	MGST2_ENST00000515137.1_Intron|MGST2_ENST00000506797.1_Splice_Site_p.S20_splice	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													31	136					0	0	1	0	0	A	140599697	G	A	140599697	5	1	22	1	0	0	0	0	0	0	1	0	9610	1275	44	2	65	2	MGST2	4	140599697	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	328986	140599697	50554579	5507	7653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_061187.2	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													48	292					0	0	1	0	0	A	140640600	G	A	140640600	2	1	22	1	0	0	0	0	0	0	0	1	9257	1074	38	1		1	MAML3	4	140640600	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40903	140640600	50513676	5508	7654											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_061187.2	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													88	366					2.43516e-34	2.89639e-34	1	1	0	T	140811481	G	T	140811481	3	4	22	1	0	0	0	0	1	0	0	0	9257	1174	41	2	2315	2	MAML3	4	140811481	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	170881	140811481	50342795	5509	7655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000414773.1_Nonsense_Mutation_p.R608*|CLGN_ENST00000537281.1_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													16	407					0	0	1	0	0	A	141310389	G	A	141310389	4	1	22	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	5510	7656											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000414773.1_Silent_p.L376L|CLGN_ENST00000537281.1_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													59	302					1.8515e-17	2.0452e-17	1	1	0	A	141316994	C	A	141316994	2	1	22	1	0	0	0	0	0	0	0	1	3547	581	21	2		2	CLGN	4	141316994	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6605	141316994	49837282	5511	7657											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000414773.1_Missense_Mutation_p.A312V|CLGN_ENST00000537281.1_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													195	754					0	0	1	0	0	A	141317309	G	A	141317309	3	1	22	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	5512	7658											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	303					0	0	1	0	0	A	141461345	G	A	141461345	2	1	22	1	0	0	0	0	0	0	0	1	5097	1045	37	1		1	ELMOD2	4	141461345	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144036	141461345	49692931	5513	7659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	448					0	0	1	0	0	T	141464612	C	T	141464612	3	4	22	1	0	0	0	0	1	0	0	0	5097	913	32	2	634	2	ELMOD2	4	141464612	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3267	141464612	49689664	5514	7660											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	292					0	0	1	0	0	T	141483492	C	T	141483492	3	4	22	1	0	0	0	0	1	0	0	0	16990	768	27	1	265	1	UCP1	4	141483492	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18880	141483492	49670784	5515	7661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	374					0	0	1	0	0	A	141543376	G	A	141543376	2	1	22	1	0	0	0	0	0	0	0	1	15687	1020	36	2		2	TBC1D9	4	141543376	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59884	141543376	49610900	5516	7662											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	272					1.51926e-22	1.72e-22	1	1	0	T	141543813	G	T	141543813	3	4	22	1	0	0	0	0	1	0	0	0	15687	991	35	2	467	2	TBC1D9	4	141543813	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	437	141543813	49610463	5517	7663											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	87					0	0	1	0	0	A	141543992	G	A	141543992	3	1	22	1	0	0	0	0	1	0	0	0	15687	1145	40	1	646	1	TBC1D9	4	141543992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	179	141543992	49610284	5518	7664											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													144	613					0	0	1	0	0	A	141578910	G	A	141578910	2	1	22	1	0	0	0	0	0	0	0	1	15687	962	34	2		2	TBC1D9	4	141578910	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34918	141578910	49575366	5519	7665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	177					0	0	1	0	0	A	141590134	G	A	141590134	3	1	22	1	0	0	0	0	1	0	0	0	15687	1086	38	1	2327	1	TBC1D9	4	141590134	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11224	141590134	49564142	5520	7666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	443					8.47766e-36	1.01331e-35	1	1	0	T	141591969	G	T	141591969	3	4	22	1	0	0	0	0	1	0	0	0	15687	933	33	2	2689	2	TBC1D9	4	141591969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1835	141591969	49562307	5521	7667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000509777.1_Missense_Mutation_p.K843E|INPP4B_ENST00000308502.4_Missense_Mutation_p.K843E|INPP4B_ENST00000262992.4_Missense_Mutation_p.K843E|INPP4B_ENST00000508116.1_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													48	276					0	0	1	0	0	C	143003299	T	C	143003299	3	2	22	1	0	0	0	0	1	0	0	0	7797	1763	61	3	255	3	INPP4B	4	143003299	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1411330	143003299	48150977	5522	7668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	300					0	0	1	0	0	T	144141476	C	T	144141476	3	4	22	1	0	0	0	0	1	0	0	0	17129	739	26	2	3034	2	USP38	4	144141476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1138177	144141476	47012800	5523	7669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	182					0	0	1	0	0	A	144449155	G	A	144449155	2	1	22	1	0	0	0	0	0	0	0	1	14825	1165	41	2		2	SMARCA5	4	144449155	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	307679	144449155	46705121	5524	7670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	471					0	0	1	0	0	G	145573905	A	G	145573905	3	3	22	1	0	0	0	0	1	0	0	0	7133	275	10	3	434	3	HHIP	4	145573905	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1124750	145573905	45580371	5525	7671											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	460					3.95083e-50	4.8935e-50	1	1	0	T	145633201	G	T	145633201	3	4	22	1	0	0	0	0	1	0	0	0	7133	933	33	2	1431	2	HHIP	4	145633201	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59296	145633201	45521075	5526	7672											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	160					0	0	1	0	0	T	145635402	C	T	145635402	2	4	22	1	0	0	0	0	0	0	0	1	7133	825	29	2		2	HHIP	4	145635402	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2201	145635402	45518874	5527	7673											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	385					0	0	1	0	0	T	145658990	C	T	145658990	3	4	22	1	0	0	0	0	1	0	0	0	7133	913	32	2	2034	2	HHIP	4	145658990	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23588	145658990	45495286	5528	7674											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	OTUD4_ENST00000455611.2_5'UTR|ABCE1_ENST00000502803.1_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	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													49	220					0	0	1	0	0	A	146032209	G	A	146032209	3	1	22	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	5529	7675											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	133					0	0	1	0	0	T	146044705	C	T	146044705	2	4	22	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	5530	7676											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.G1057D	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													224	971					0	0	1	0	0	T	146058757	C	T	146058757	3	4	22	1	0	0	0	0	1	0	0	0	11361	739	26	2	178	2	OTUD4	4	146058757	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14052	146058757	45095519	5531	7677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Missense_Mutation_p.K552T	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													9	218					0	0	1	0	0	G	146064545	T	G	146064545	3	3	22	1	0	0	0	0	1	0	0	0	11361	1609	56	3	1709	3	OTUD4	4	146064545	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5788	146064545	45089731	5532	7678											
C4orf51	646603	broad.mit.edu	37	chr4	146601514	146601515	+	Frame_Shift_Ins	INS	-	-	A													catacacaggcagttaccggINSaaaaaacaactggacaagtc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146601514_146601515insA	ENST00000438731.1	+	1	159_160	c.159_160insA	c.(157-162)cgaaaafs	p.RK53fs		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	53										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						GCAGTTACCGGAAAAAACAACT	0.446													7	368	---	---	---	---						A	146601515	-	A	146601514	7	5	22	1	0	1	1	0	0	0	0	0	2292	1161	41	0	161	0	C4orf51	4	146601514	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	536969	146601514	44552762	5533	7679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	253					0	0	1	0	0	A	146601532	G	A	146601532	2	1	22	1	0	0	0	0	0	0	0	1	2292	1020	36	2		2	C4orf51	4	146601532	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18	146601532	44552744	5534	7680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	413					0	0	1	0	0	A	146824292	G	A	146824292	3	1	22	1	0	0	0	0	1	0	0	0	18227	1116	39	1	3162	1	ZNF827	4	146824292	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222760	146824292	44329984	5535	7681											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	85					9.57634e-11	1.01752e-10	1	1	0	T	147561405	G	T	147561405	3	4	22	1	0	0	0	0	1	0	0	0	12325	1290	45	2	681	2	POU4F2	4	147561405	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	737113	147561405	43592871	5536	7682											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	114					0	0	1	0	0	T	147561477	C	T	147561477	2	4	22	1	0	0	0	0	0	0	0	1	12325	767	27	1		1	POU4F2	4	147561477	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72	147561477	43592799	5537	7683											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398886.4_Silent_p.S25S|RP11-292D4.2_ENST00000515530.1_RNA|TTC29_ENST00000325106.4_5'UTR			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													23	96					0	0	1	0	0	A	147861051	G	A	147861051	2	1	22	1	0	0	0	0	0	0	0	1	16758	1131	39	1		1	TTC29	4	147861051	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299574	147861051	43293225	5538	7684											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	495					0	0	1	0	0	G	148575447	T	G	148575447	3	3	22	1	0	0	0	0	1	0	0	0	12588	1464	51	3	952	3	PRMT10	4	148575447	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	714396	148575447	42578829	5539	7685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	196					0	0	1	0	0	A	148786101	G	A	148786101	2	1	22	1	0	0	0	0	0	0	0	1	859	1335	47	2		2	ARHGAP10	4	148786101	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	210654	148786101	42368175	5540	7686											
LRBA	987	broad.mit.edu	37	chr4	151186882	151186882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgtcaccatcagtagcGggtttggtattcatgatgcc	11	10	3	1	rs145709687	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151186882G>A	ENST00000535741.1	-	57	9024	c.8551C>T	c.(8551-8553)Cgc>Tgc	p.R2851C	LRBA_ENST00000510413.1_Missense_Mutation_p.R2850C|LRBA_ENST00000357115.3_Missense_Mutation_p.R2862C|LRBA_ENST00000503716.1_5'UTR			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2862						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)					CATCAGTAGCGGGTTTGGTAT	0.448													21	200					0	0	1	0	0	A	151186882	G	A	151186882	3	1	22	1	0	0	0	0	1	0	0	0	8976	1116	39	1	11	1	LRBA	4	151186882	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2400781	151186882	39967394	5541	7687											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_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													76	377					0	0	1	0	0	T	151504454	C	T	151504454	2	4	22	1	0	0	0	0	0	0	0	1	9188	535	19	1		1	MAB21L2	4	151504454	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	317572	151504454	39649822	5542	7688											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_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													123	461					0	0	1	0	0	T	151504591	C	T	151504591	3	4	22	1	0	0	0	0	1	0	0	0	9188	739	26	2	412	2	MAB21L2	4	151504591	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137	151504591	39649685	5543	7689											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000507224.1_Silent_p.G2047G|LRBA_ENST00000510413.1_Silent_p.G2047G|LRBA_ENST00000357115.3_Silent_p.G2058G			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													69	267					0	0	1	0	0	A	151511917	G	A	151511917	2	1	22	1	0	0	0	0	0	0	0	1	8976	1074	38	1		1	LRBA	4	151511917	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7326	151511917	39642359	5544	7690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000507224.1_Missense_Mutation_p.E1876K|LRBA_ENST00000510413.1_Missense_Mutation_p.E1876K|LRBA_ENST00000357115.3_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													63	372					0	0	1	0	0	T	151682954	C	T	151682954	3	4	22	1	0	0	0	0	1	0	0	0	8976	893	31	1	3061	1	LRBA	4	151682954	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171037	151682954	39471322	5545	7691											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000507224.1_Missense_Mutation_p.A1707T|LRBA_ENST00000510413.1_Missense_Mutation_p.A1707T|LRBA_ENST00000357115.3_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													75	426					0	0	1	0	0	T	151749384	C	T	151749384	3	4	22	1	0	0	0	0	1	0	0	0	8976	797	28	2	3588	2	LRBA	4	151749384	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66430	151749384	39404892	5546	7692											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000507224.1_Missense_Mutation_p.G734V|LRBA_ENST00000510413.1_Missense_Mutation_p.G734V|LRBA_ENST00000357115.3_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													12	395					0.00010058	0.000102273	1	1	0	A	151793872	C	A	151793872	3	1	22	1	0	0	0	0	1	0	0	0	8976	855	30	2	6554	2	LRBA	4	151793872	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44488	151793872	39360404	5547	7693											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000507224.1_Missense_Mutation_p.I279M|LRBA_ENST00000510413.1_Missense_Mutation_p.I279M|LRBA_ENST00000357115.3_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													7	155					0	0	1	0	0	C	151837610	T	C	151837610	3	2	22	1	0	0	0	0	1	0	0	0	8976	1744	61	3	7962	3	LRBA	4	151837610	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43738	151837610	39316666	5548	7694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424281.1_Missense_Mutation_p.T296N|SH3D19_ENST00000514152.1_Missense_Mutation_p.T332N|SH3D19_ENST00000304527.4_Missense_Mutation_p.T332N|SH3D19_ENST00000409252.2_Missense_Mutation_p.T332N|SH3D19_ENST00000427414.2_Missense_Mutation_p.T296N|SH3D19_ENST00000455740.1_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													76	322					1.4051e-37	1.68838e-37	1	1	0	T	152069321	G	T	152069321	3	4	22	1	0	0	0	0	1	0	0	0	14303	1261	44	2	1421	2	SH3D19	4	152069321	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	231711	152069321	39084955	5549	7695											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424281.1_Missense_Mutation_p.K33N|SH3D19_ENST00000514152.1_Missense_Mutation_p.K33N|SH3D19_ENST00000304527.4_Missense_Mutation_p.K33N|SH3D19_ENST00000409252.2_Missense_Mutation_p.K33N|SH3D19_ENST00000427414.2_Missense_Mutation_p.K33N|SH3D19_ENST00000455740.1_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													142	643					3.17917e-66	4.02221e-66	1	1	0	A	152096417	C	A	152096417	3	1	22	1	0	0	0	0	1	0	0	0	14303	912	32	2	2333	2	SH3D19	4	152096417	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27096	152096417	39057859	5550	7696											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000263981.5_Missense_Mutation_p.G331S|FBXW7_ENST00000603841.1_Missense_Mutation_p.G411S|FBXW7_ENST00000393956.3_Missense_Mutation_p.G235S|FBXW7_ENST00000296555.5_Missense_Mutation_p.G293S|FBXW7_ENST00000603548.1_Missense_Mutation_p.G411S	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"								23	233					0	0	1	0	0	T	153250829	C	T	153250829	3	4	22	1	0	0	0	0	1	0	0	0	5802	681	24	2	912	2	FBXW7	4	153250829	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1154412	153250829	37903447	5551	7697											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000263981.5_Missense_Mutation_p.F200L|FBXW7_ENST00000603841.1_Missense_Mutation_p.F280L|FBXW7_ENST00000393956.3_Missense_Mutation_p.F104L|RP11-461L13.2_ENST00000605147.1_RNA|FBXW7_ENST00000296555.5_Missense_Mutation_p.F162L|FBXW7_ENST00000603548.1_Missense_Mutation_p.F280L	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"								43	227					0	0	1	0	0	G	153258977	A	G	153258977	3	3	22	1	0	0	0	0	1	0	0	0	5802	72	3	3	1317	3	FBXW7	4	153258977	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8148	153258977	37895299	5552	7698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	289					0	0	1	0	0	A	153896509	G	A	153896509	3	1	22	1	0	0	0	0	1	0	0	0	5909	1203	42	2	2108	2	FHDC1	4	153896509	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	637532	153896509	37257767	5553	7699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	168					0	0	1	0	0	T	153897279	C	T	153897279	3	4	22	1	0	0	0	0	1	0	0	0	5909	759	27	1	2878	1	FHDC1	4	153897279	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	770	153897279	37256997	5554	7700											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	75					1.22574e-08	1.28258e-08	1	1	0	A	153897796	C	A	153897796	3	1	22	1	0	0	0	0	1	0	0	0	5909	797	28	2	3395	2	FHDC1	4	153897796	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	517	153897796	37256480	5555	7701											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437508.2_Silent_p.N282N|TRIM2_ENST00000494872.1_3'UTR	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													18	196					0	0	1	0	0	T	154216605	C	T	154216605	2	4	22	1	0	0	0	0	0	0	0	1	16555	535	19	1		1	TRIM2	4	154216605	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	318809	154216605	36937671	5556	7702											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437508.2_Missense_Mutation_p.V324I|TRIM2_ENST00000494872.1_3'UTR	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													57	183					0	0	1	0	0	A	154216729	G	A	154216729	3	1	22	1	0	0	0	0	1	0	0	0	16555	1145	40	1	1073	1	TRIM2	4	154216729	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124	154216729	36937547	5557	7703											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437508.2_Missense_Mutation_p.A363T|TRIM2_ENST00000494872.1_3'UTR	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													39	221					0	0	1	0	0	A	154216846	G	A	154216846	3	1	22	1	0	0	0	0	1	0	0	0	16555	1087	38	1	1190	1	TRIM2	4	154216846	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117	154216846	36937430	5558	7704											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437508.2_Missense_Mutation_p.T388A|TRIM2_ENST00000494872.1_3'UTR	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													52	300					0	0	1	0	0	G	154216921	A	G	154216921	3	3	22	1	0	0	0	0	1	0	0	0	16555	159	6	3	1265	3	TRIM2	4	154216921	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75	154216921	36937355	5559	7705											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437508.2_Silent_p.P441P|TRIM2_ENST00000494872.1_3'UTR	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													45	242					0	0	1	0	0	A	154217082	G	A	154217082	2	1	22	1	0	0	0	0	0	0	0	1	16555	1103	39	1		1	TRIM2	4	154217082	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	154217082	36937194	5560	7706											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	817					0	0	1	0	0	G	154523409	A	G	154523409	3	3	22	1	0	0	0	0	1	0	0	0	8243	43	2	3	2458	3	KIAA0922	4	154523409	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	306327	154523409	36630867	5561	7707											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	557					4.96213e-28	5.76155e-28	1	1	0	T	154525552	G	T	154525552	3	4	22	1	0	0	0	0	1	0	0	0	8243	942	33	2	3486	2	KIAA0922	4	154525552	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2143	154525552	36628724	5562	7708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	292					0	0	1	0	0	A	154553974	G	A	154553974	3	1	22	1	0	0	0	0	1	0	0	0	8243	1203	42	2	4438	2	KIAA0922	4	154553974	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28422	154553974	36600302	5563	7709											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	432					0.00316338	0.00318819	1	1	0	A	154557648	C	A	154557648	3	1	22	1	0	0	0	0	1	0	0	0	8243	680	24	2	4891	2	KIAA0922	4	154557648	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3674	154557648	36596628	5564	7710											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	266					0	0	1	0	0	A	154624431	T	A	154624431	2	1	22	1	0	0	0	0	0	0	0	1	16011	1596	56	5		5	TLR2	4	154624431	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	66783	154624431	36529845	5565	7711											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	196					0	0	1	0	0	T	154625213	C	T	154625213	3	4	22	1	0	0	0	0	1	0	0	0	16011	739	26	2	1156	2	TLR2	4	154625213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	782	154625213	36529063	5566	7712											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	285					0	0	1	0	0	A	154702681	G	A	154702681	2	1	22	1	0	0	0	0	0	0	0	1	14216	1280	45	2		2	SFRP2	4	154702681	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77468	154702681	36451595	5567	7713											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155156624G>A	ENST00000357232.3	-	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	2605					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													98	477					0	0	1	0	0	A	155156624	G	A	155156624	2	1	22	1	0	0	0	0	0	0	0	1	4311	1136	40	1		1	DCHS2	4	155156624	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	453943	155156624	35997652	5568	7714											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155156635C>T	ENST00000357232.3	-	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	2602					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													111	481					0	0	1	0	0	T	155156635	C	T	155156635	3	4	22	1	0	0	0	0	1	0	0	0	4311	884	31	1	950	1	DCHS2	4	155156635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11	155156635	35997641	5569	7715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155157313T>G	ENST00000357232.3	-	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	2376	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													51	451					0	0	1	0	0	G	155157313	T	G	155157313	3	3	22	1	0	0	0	0	1	0	0	0	4311	1667	58	3	1628	3	DCHS2	4	155157313	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	678	155157313	35996963	5570	7716											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155157462T>G	ENST00000357232.3	-	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	2326	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													97	439					0	0	1	0	0	G	155157462	T	G	155157462	3	3	22	1	0	0	0	0	1	0	0	0	4311	1493	52	3	1777	3	DCHS2	4	155157462	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	149	155157462	35996814	5571	7717											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155219556A>C	ENST00000357232.3	-	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	1515	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													121	469					0	0	1	0	0	C	155219556	A	C	155219556	4	2	22	1	0	0	0	0	0	1	0	0	4311	108	4	3	4237	3	DCHS2	4	155219556	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	62094	155219556	35934720	5572	7718											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155241935C>A	ENST00000357232.3	-	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	1084	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													148	579					1.20797e-82	1.54616e-82	1	1	0	A	155241935	C	A	155241935	3	1	22	1	0	0	0	0	1	0	0	0	4311	739	26	2	5547	2	DCHS2	4	155241935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22379	155241935	35912341	5573	7719											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155253943C>T	ENST00000357232.3	-	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	640	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													69	253					0	0	1	0	0	T	155253943	C	T	155253943	2	4	22	1	0	0	0	0	0	0	0	1	4311	639	23	1		1	DCHS2	4	155253943	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12008	155253943	35900333	5574	7720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155254182C>T	ENST00000357232.3	-	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	561	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													77	283					0	0	1	0	0	T	155254182	C	T	155254182	3	4	22	1	0	0	0	0	1	0	0	0	4311	536	19	1	7233	1	DCHS2	4	155254182	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239	155254182	35900094	5575	7721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155254359C>T	ENST00000357232.3	-	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	502	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													25	299					0	0	1	0	0	T	155254359	C	T	155254359	3	4	22	1	0	0	0	0	1	0	0	0	4311	768	27	1	7410	1	DCHS2	4	155254359	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177	155254359	35899917	5576	7722											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155278477C>A	ENST00000357232.3	-	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													73	311					2.36135e-34	2.80899e-34	1	1	0	A	155278477	C	A	155278477	5	1	22	1	0	0	0	0	0	0	1	0	4311	695	24	2	8232	2	DCHS2	4	155278477	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24118	155278477	35875799	5577	7723											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155298572C>T	ENST00000357232.3	-	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	87	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													43	149					0	0	1	0	0	T	155298572	C	T	155298572	3	4	22	1	0	0	0	0	1	0	0	0	4311	690	24	2	8679	2	DCHS2	4	155298572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20095	155298572	35855704	5578	7724											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	223					0	0	1	0	0	C	155465619	T	C	155465619	3	2	22	1	0	0	0	0	1	0	0	0	12154	1696	59	3	1008	3	PLRG1	4	155465619	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	167047	155465619	35688657	5579	7725											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	270					0	0	1	0	0	A	155487037	G	A	155487037	2	1	22	1	0	0	0	0	0	0	0	1	5864	1074	38	1		1	FGB	4	155487037	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21418	155487037	35667239	5580	7726											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	191					1.04352e-10	1.10821e-10	1	1	0	A	155487113	C	A	155487113	3	1	22	1	0	0	0	0	1	0	0	0	5864	623	22	2	274	2	FGB	4	155487113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76	155487113	35667163	5581	7727											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	578					1.63038e-21	1.83746e-21	1	1	0	T	155490440	G	T	155490440	3	4	22	1	0	0	0	0	1	0	0	0	5864	933	33	2	961	2	FGB	4	155490440	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3327	155490440	35663836	5582	7728											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	342					7.62596e-35	9.08233e-35	1	1	0	A	155490772	C	A	155490772	3	1	22	1	0	0	0	0	1	0	0	0	5864	564	20	2	1091	2	FGB	4	155490772	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	332	155490772	35663504	5583	7729											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	329					0	0	1	0	0	T	155505940	C	T	155505940	3	4	22	1	0	0	0	0	1	0	0	0	5863	739	26	2	667	2	FGA	4	155505940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15168	155505940	35648336	5584	7730											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	499					0	0	1	0	0	A	155507398	G	A	155507398	3	1	22	1	0	0	0	0	1	0	0	0	5863	1203	42	2	1469	2	FGA	4	155507398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1458	155507398	35646878	5585	7731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	385					0	0	1	0	0	T	155508756	C	T	155508756	3	4	22	1	0	0	0	0	1	0	0	0	5863	565	20	2	2238	2	FGA	4	155508756	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1358	155508756	35645520	5586	7732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405164.1_Missense_Mutation_p.T408P|FGG_ENST00000407946.1_Missense_Mutation_p.T408P|FGG_ENST00000336098.3_Missense_Mutation_p.T400P	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													102	458					0	0	1	0	0	G	155526150	T	G	155526150	3	3	22	1	0	0	0	0	1	0	0	0	5903	1725	60	3	186	3	FGG	4	155526150	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17394	155526150	35628126	5587	7733											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405164.1_Missense_Mutation_p.D328A|FGG_ENST00000407946.1_Missense_Mutation_p.D328A|FGG_ENST00000336098.3_Missense_Mutation_p.D320A	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													14	626					0	0	1	0	0	G	155528027	T	G	155528027	3	3	22	1	0	0	0	0	1	0	0	0	5903	1435	50	3	429	3	FGG	4	155528027	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1877	155528027	35626249	5588	7734											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000514866.1_Missense_Mutation_p.K153N|RBM46_ENST00000281722.3_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													63	343					8.77104e-35	1.04431e-34	1	1	0	T	155719270	G	T	155719270	3	4	22	1	0	0	0	0	1	0	0	0	13192	933	33	2	465	2	RBM46	4	155719270	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191243	155719270	35435006	5589	7735											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													171	701					0	0	1	0	0	C	155749142	T	C	155749142	3	2	22	1	0	0	0	0	1	0	0	0	13192	1667	58	3	1539	3	RBM46	4	155749142	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29872	155749142	35405134	5590	7736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	236					0	0	1	0	0	T	156135449	C	T	156135449	3	4	22	1	0	0	0	0	1	0	0	0	10657	855	30	2	360	2	NPY2R	4	156135449	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	386307	156135449	35018827	5591	7737											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	300					0	0	1	0	0	A	156136031	G	A	156136031	3	1	22	1	0	0	0	0	1	0	0	0	10657	1087	38	1	942	1	NPY2R	4	156136031	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	582	156136031	35018245	5592	7738											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156296174C>T	ENST00000311277.4	-	3	339		c.e3-1		AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Splice_Site|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													27	221					0	0	1	0	0	T	156296174	C	T	156296174	5	4	22	1	0	0	0	0	0	0	1	0	9320	695	24	2	1916	2	MAP9	4	156296174	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160143	156296174	34858102	5593	7739											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000506455.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P128S|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000513574.1_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													46	233					0	0	1	0	0	T	156631699	C	T	156631699	3	4	22	1	0	0	0	0	1	0	0	0	6935	855	30	2	396	2	GUCY1A3	4	156631699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	335525	156631699	34522577	5594	7740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156717528G>T	ENST00000264424.8	+	8	925		c.e8-1		GUCY1B3_ENST00000502959.1_Splice_Site|GUCY1B3_ENST00000505154.1_Splice_Site|GUCY1B3_ENST00000513437.1_Splice_Site|GUCY1B3_ENST00000503520.1_Splice_Site|GUCY1B3_ENST00000507146.1_Splice_Site|GUCY1B3_ENST00000505764.1_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													49	281					1.86277e-20	2.08787e-20	1	1	0	T	156717528	G	T	156717528	5	4	22	1	0	0	0	0	0	0	1	0	6936	1014	35	2	873	2	GUCY1B3	4	156717528	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85829	156717528	34436748	5595	7741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	111					0	0	1	0	0	G	156840997	A	G	156840997	3	3	22	1	0	0	0	0	1	0	0	0	15786	391	14	3	1122	3	TDO2	4	156840997	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	123469	156840997	34313279	5596	7742											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	299					0	0	1	0	0	T	156849530	C	T	156849530	3	4	22	1	0	0	0	0	1	0	0	0	4064	565	20	2	84	2	CTSO	4	156849530	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8533	156849530	34304746	5597	7743											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	579					0	0	1	0	0	A	157689048	G	A	157689048	2	1	22	1	0	0	0	0	0	0	0	1	11706	1103	39	1		1	PDGFC	4	157689048	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	839518	157689048	33465228	5598	7744											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	69	299					0	0	1	0	0	C	157891977	T	C	157891977	3	2	22	1	0	0	0	0	1	0	0	0	11706	1551	54	3	982	3	PDGFC	4	157891977	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	202929	157891977	33262299	5599	7745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:158057850G>A	ENST00000264428.4	+	5	797	c.527_splice	c.e5+1	p.R176_splice	GLRB_ENST00000509282.1_Splice_Site_p.R176_splice|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Splice_Site_p.R176_splice	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													14	431					0	0	1	0	0	A	158057850	G	A	158057850	5	1	22	1	0	0	0	0	0	0	1	0	6500	1014	35	2	541	2	GLRB	4	158057850	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165873	158057850	33096426	5600	7746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393807.5_Missense_Mutation_p.S296I|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_Missense_Mutation_p.S296I|FAM198B_ENST00000585682.1_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)	76	377					9.59377e-39	1.15749e-38	1	1	0	A	159091641	C	A	159091641	3	1	22	1	0	0	0	0	1	0	0	0	5561	797	28	2	793	2	FAM198B	4	159091641	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1033791	159091641	32062635	5601	7747											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000393807.5_Silent_p.R206R|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_Silent_p.R206R|FAM198B_ENST00000585682.1_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)	14	397					0	0	1	0	0	T	159091910	C	T	159091910	2	4	22	1	0	0	0	0	0	0	0	1	5561	854	30	2		2	FAM198B	4	159091910	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	269	159091910	32062366	5602	7748											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000470033.1_Missense_Mutation_p.P398L|RXFP1_ENST00000460056.2_Missense_Mutation_p.P350L|RXFP1_ENST00000448688.2_Missense_Mutation_p.P326L	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													90	385					0	0	1	0	0	T	159566237	C	T	159566237	3	4	22	1	0	0	0	0	1	0	0	0	13811	681	24	2	1350	2	RXFP1	4	159566237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	474327	159566237	31588039	5603	7749											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	61					3.45872e-05	3.53336e-05	1	1	0	A	159592872	C	A	159592872	3	1	22	1	0	0	0	0	1	0	0	0	2289	797	28	2	267	2	C4orf46	4	159592872	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26635	159592872	31561404	5604	7750											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_004453.2	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													106	522					0	0	1	0	0	A	159606330	G	A	159606330	3	1	22	1	0	0	0	0	1	0	0	0	5299	971	34	2	583	2	ETFDH	4	159606330	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13458	159606330	31547946	5605	7751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_004453.2	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													181	723					0	0	1	0	0	G	159627858	T	G	159627858	3	3	22	1	0	0	0	0	1	0	0	0	5299	1841	64	3	1592	3	ETFDH	4	159627858	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21528	159627858	31526418	5606	7752											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_004453.2	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													162	715					7.05154e-75	8.98825e-75	1	1	0	A	159627874	C	A	159627874	3	1	22	1	0	0	0	0	1	0	0	0	5299	913	32	2	1608	2	ETFDH	4	159627874	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	159627874	31526402	5607	7753											
PPID	5481	broad.mit.edu	37	chr4	159636465	159636466	+	Frame_Shift_Ins	INS	-	-	T													taccttaaaacttctgcataINSttttttaatagccatctccc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159636465_159636466insT	ENST00000307720.3	-	6	842_843	c.735_736insA	c.(733-738)aaatgcfs	p.C246fs		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	246					protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		ACTTCTGCATATTTTTTAATAG	0.203													11	45	---	---	---	---						T	159636466	-	T	159636465	7	5	22	1	0	1	1	0	0	0	0	0	12370	449	16	0	396	0	PPID	4	159636465	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	8591	159636465	31517811	5608	7754											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	337					0	0	1	0	0	C	159790058	T	C	159790058	3	2	22	1	0	0	0	0	1	0	0	0	6009	1696	59	3	2320	3	FNIP2	4	159790058	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	153593	159790058	31364218	5609	7755											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	455					0	0	1	0	0	G	160251584	T	G	160251584	2	3	22	1	0	0	0	0	0	0	0	1	13096	1828	64	3		3	RAPGEF2	4	160251584	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	461526	160251584	30902692	5610	7756											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	251					0	0	1	0	0	A	160262774	G	A	160262774	3	1	22	1	0	0	0	0	1	0	0	0	13096	1175	41	2	2164	2	RAPGEF2	4	160262774	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11190	160262774	30891502	5611	7757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	357					6.40141e-05	6.5221e-05	1	1	0	A	160273849	C	A	160273849	3	1	22	1	0	0	0	0	1	0	0	0	13096	797	28	2	3477	2	RAPGEF2	4	160273849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11075	160273849	30880427	5612	7758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	155					0	0	1	0	0	A	160277266	G	A	160277266	3	1	22	1	0	0	0	0	1	0	0	0	13096	1087	38	1	4520	1	RAPGEF2	4	160277266	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3417	160277266	30877010	5613	7759											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379164.4_Missense_Mutation_p.G803S|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Missense_Mutation_p.G794S|FSTL5_ENST00000536695.1_Missense_Mutation_p.G803S	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													153	614					0	0	1	0	0	T	162307033	C	T	162307033	3	4	22	1	0	0	0	0	1	0	0	0	6115	594	21	2	137	2	FSTL5	4	162307033	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2029767	162307033	28847243	5614	7760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	528					0	0	1	0	0	A	164246480	T	A	164246480	3	1	22	1	0	0	0	0	1	0	0	0	10656	1725	60	5	28	5	NPY1R	4	164246480	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1939447	164246480	26907796	5615	7761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	636					0	0	1	0	0	T	164246499	C	T	164246499	3	4	22	1	0	0	0	0	1	0	0	0	10656	768	27	1	47	1	NPY1R	4	164246499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	164246499	26907777	5616	7762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508504.1_Missense_Mutation_p.N441S|TRIM60_ENST00000341062.5_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													72	296					0	0	1	0	0	G	165962546	A	G	165962546	3	3	22	1	0	0	0	0	1	0	0	0	16596	43	2	3	1324	3	TRIM60	4	165962546	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1716047	165962546	25191730	5617	7763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:166021946T>G	ENST00000306480.5	-	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	91						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													70	325					0	0	1	0	0	G	166021946	T	G	166021946	3	3	22	1	0	0	0	0	1	0	0	0	16175	1606	56	3	558	3	TMEM192	4	166021946	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	59400	166021946	25132330	5618	7764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	280					0	0	1	0	0	T	166388932	C	T	166388932	2	4	22	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	5619	7765											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504953.1_Silent_p.R94R|SPOCK3_ENST00000357545.4_Silent_p.R94R|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000535728.1_Silent_p.R5R|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000421836.2_Silent_p.R46R|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000512648.1_Silent_p.R94R|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000511269.1_Silent_p.R94R|SPOCK3_ENST00000510741.1_Silent_p.R94R|SPOCK3_ENST00000502330.1_Silent_p.R97R|SPOCK3_ENST00000506886.1_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													79	427					0	0	1	0	0	A	167921568	G	A	167921568	2	1	22	1	0	0	0	0	0	0	0	1	15137	1190	42	2		2	SPOCK3	4	167921568	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1532636	167921568	23232708	5620	7766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	255					0	0	1	0	0	G	169194446	T	G	169194446	3	3	22	1	0	0	0	0	1	0	0	0	4401	1435	50	3	2664	3	DDX60	4	169194446	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1272878	169194446	21959830	5621	7767											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	323					0	0	1	0	0	T	169229212	C	T	169229212	3	4	22	1	0	0	0	0	1	0	0	0	4401	768	27	1	5069	1	DDX60	4	169229212	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34766	169229212	21925064	5622	7768											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	79					2.23348e-06	2.30073e-06	1	1	0	T	169292909	G	T	169292909	2	4	22	1	0	0	0	0	0	0	0	1	4402	1164	41	2		2	DDX60L	4	169292909	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63697	169292909	21861367	5623	7769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	115					0	0	1	0	0	C	169305771	T	C	169305771	3	2	22	1	0	0	0	0	1	0	0	0	4402	1821	63	3	1048	3	DDX60L	4	169305771	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12862	169305771	21848505	5624	7770											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000505890.1_Silent_p.C1287C|DDX60L_ENST00000260184.7_Silent_p.C1286C			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													10	64					0	0	1	0	0	A	169312748	G	A	169312748	2	1	22	1	0	0	0	0	0	0	0	1	4402	1311	46	2		2	DDX60L	4	169312748	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6977	169312748	21841528	5625	7771											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000505890.1_Missense_Mutation_p.N1062H|DDX60L_ENST00000260184.7_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													13	48					0	0	1	0	0	G	169327130	T	G	169327130	3	3	22	1	0	0	0	0	1	0	0	0	4402	1841	64	3	1996	3	DDX60L	4	169327130	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14382	169327130	21827146	5626	7772											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000505890.1_Silent_p.E1033E|DDX60L_ENST00000260184.7_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													19	102					0	0	1	0	0	T	169327215	C	T	169327215	2	4	22	1	0	0	0	0	0	0	0	1	4402	680	24	2		2	DDX60L	4	169327215	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85	169327215	21827061	5627	7773											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000505890.1_Silent_p.G724G|DDX60L_ENST00000260184.7_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													25	102					0	0	1	0	0	A	169343747	G	A	169343747	2	1	22	1	0	0	0	0	0	0	0	1	4402	1190	42	2		2	DDX60L	4	169343747	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16532	169343747	21810529	5628	7774											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				13	415					0	0	1	0	0	T	169433122	C	T	169433122	3	4	22	1	0	0	0	0	1	0	0	0	11454	536	19	1	469	1	PALLD	4	169433122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89375	169433122	21721154	5629	7775											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				21	881					5.26018e-13	5.6673e-13	1	1	0	T	169433221	G	T	169433221	3	4	22	1	0	0	0	0	1	0	0	0	11454	942	33	2	568	2	PALLD	4	169433221	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99	169433221	21721055	5630	7776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	339					0	0	1	0	0	A	170037775	G	A	170037775	3	1	22	1	0	0	0	0	1	0	0	0	14313	1087	38	1	894	1	SH3RF1	4	170037775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	604554	170037775	21116501	5631	7777											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	121					0	0	1	0	0	A	170043380	G	A	170043380	3	1	22	1	0	0	0	0	1	0	0	0	14313	971	34	2	1473	2	SH3RF1	4	170043380	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5605	170043380	21110896	5632	7778											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	96					0	0	1	0	0	T	170051308	C	T	170051308	5	4	22	1	0	0	0	0	0	0	1	0	14313	695	24	2	1626	2	SH3RF1	4	170051308	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7928	170051308	21102968	5633	7779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	595					0	0	1	0	0	A	170671837	G	A	170671837	3	1	22	1	0	0	0	0	1	0	0	0	2273	1000	35	2	816	2	C4orf27	4	170671837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	620529	170671837	20482439	5634	7780											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	278					0	0	1	0	0	A	170912876	G	A	170912876	3	1	22	1	0	0	0	0	1	0	0	0	9566	1086	38	1	350	1	MFAP3L	4	170912876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241039	170912876	20241400	5635	7781											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	290					0	0	1	0	0	T	170926947	C	T	170926947	3	4	22	1	0	0	0	0	1	0	0	0	9566	768	27	1	1155	1	MFAP3L	4	170926947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14071	170926947	20227329	5636	7782											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	305					0	0	1	0	0	T	173873248	C	T	173873248	3	4	22	1	0	0	0	0	1	0	0	0	6265	759	27	1	1244	1	GALNTL6	4	173873248	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2946301	173873248	17281028	5637	7783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	390					0	0	1	0	0	A	174169569	G	A	174169569	3	1	22	1	0	0	0	0	1	0	0	0	6258	1145	40	1	571	1	GALNT7	4	174169569	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	296321	174169569	16984707	5638	7784											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	385					0	0	1	0	0	A	174235199	G	A	174235199	3	1	22	1	0	0	0	0	1	0	0	0	6258	1174	41	2	1514	2	GALNT7	4	174235199	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65630	174235199	16919077	5639	7785											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446922.2_Silent_p.K59K|HMGB2_ENST00000438704.2_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													50	500					0	0	1	0	0	T	174254339	C	T	174254339	2	4	22	1	0	0	0	0	0	0	0	1	7267	564	20	2		2	HMGB2	4	174254339	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19140	174254339	16899937	5640	7786											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512099.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000515310.1_RNA	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													26	598					0	0	1	0	0	A	174450017	G	A	174450017	3	1	22	1	0	0	0	0	1	0	0	0	6991	1087	38	1	237	1	HAND2	4	174450017	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	195678	174450017	16704259	5641	7787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	533					0	0	1	0	0	A	175564991	G	A	175564991	2	1	22	1	0	0	0	0	0	0	0	1	6498	1024	36	2		2	GLRA3	4	175564991	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1114974	175564991	15589285	5642	7788											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	210					0	0	1	0	0	C	175636706	A	C	175636706	2	2	22	1	0	0	0	0	0	0	0	1	6498	1	1	3		3	GLRA3	4	175636706	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	71715	175636706	15517570	5643	7789											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000514159.1_Missense_Mutation_p.G659V|ADAM29_ENST00000404450.4_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													20	213					1.10513e-12	1.18868e-12	1	1	0	T	175898652	G	T	175898652	3	4	22	1	0	0	0	0	1	0	0	0	246	1174	41	2	1978	2	ADAM29	4	175898652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	261946	175898652	15255624	5644	7790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|ADAM29_ENST00000514159.1_Missense_Mutation_p.Q794H|ADAM29_ENST00000404450.4_Missense_Mutation_p.Q794H|RP13-577H12.2_ENST00000507525.1_RNA	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													118	608					1.93806e-58	2.4311e-58	1	1	0	T	175899058	G	T	175899058	3	4	22	1	0	0	0	0	1	0	0	0	246	933	33	2	2384	2	ADAM29	4	175899058	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	406	175899058	15255218	5645	7791											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393658.2_Nonsense_Mutation_p.C174*|GPM6A_ENST00000515090.1_Nonsense_Mutation_p.C167*	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													60	352					1.72039e-30	2.01868e-30	1	1	0	T	176573004	G	T	176573004	4	4	22	1	0	0	0	0	0	1	0	0	6655	963	34	2	330	2	GPM6A	4	176573004	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	673946	176573004	14581272	5646	7792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508596.1_Missense_Mutation_p.C577Y|WDR17_ENST00000280190.4_Missense_Mutation_p.C601Y	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													130	525					0	0	1	0	0	A	177069319	G	A	177069319	3	1	22	1	0	0	0	0	1	0	0	0	17337	1319	46	2	1852	2	WDR17	4	177069319	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	496315	177069319	14084957	5647	7793											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508596.1_Nonsense_Mutation_p.Y811*|WDR17_ENST00000280190.4_Nonsense_Mutation_p.Y835*	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													8	272					0.000673444	0.000681208	1	1	0	A	177073091	C	A	177073091	4	1	22	1	0	0	0	0	0	1	0	0	17337	576	20	2	2571	2	WDR17	4	177073091	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3772	177073091	14081185	5648	7794											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508596.1_Missense_Mutation_p.L818I|WDR17_ENST00000280190.4_Missense_Mutation_p.L842I	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													43	222					2.62258e-09	2.75829e-09	1	1	0	A	177073110	C	A	177073110	3	1	22	1	0	0	0	0	1	0	0	0	17337	565	20	2	2590	2	WDR17	4	177073110	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	177073110	14081166	5649	7795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													149	640					0	0	1	0	0	A	177138127	G	A	177138127	3	1	22	1	0	0	0	0	1	0	0	0	1025	1029	36	2	293	2	ASB5	4	177138127	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65017	177138127	14016149	5650	7796											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	245					0	0	1	0	0	G	177249379	T	G	177249379	2	3	22	1	0	0	0	0	0	0	0	1	15081	1596	56	3		3	SPCS3	4	177249379	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	111252	177249379	13904897	5651	7797											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_060718.2	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					48	163					0	0	1	0	0	G	178260982	A	G	178260982	3	3	22	1	0	0	0	0	1	0	0	0	10367	333	12	3	691	3	NEIL3	4	178260982	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1011603	178260982	12893294	5652	7798											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_060718.2	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					65	223					0	0	1	0	0	C	178262667	A	C	178262667	3	2	22	1	0	0	0	0	1	0	0	0	10367	72	3	3	762	3	NEIL3	4	178262667	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1685	178262667	12891609	5653	7799											
AGA	175	broad.mit.edu	37	chr4	178352895	178352896	+	Frame_Shift_Ins	INS	-	-	T													ctttttcctcagttggctgaINStttttttcggaattataaac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178352895_178352896insT	ENST00000264595.2	-	9	1134_1135	c.1007_1008insA	c.(1006-1008)acafs	p.T336fs		NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	336					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)		CAGTTGGCTGATTTTTTTCGGA	0.371													37	195	---	---	---	---						T	178352896	-	T	178352895	7	5	22	1	0	1	1	0	0	0	0	0	364	330	12	0	36	0	AGA	4	178352895	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	90228	178352895	12801381	5654	7800											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	164					0	0	1	0	0	A	178358577	G	A	178358577	3	1	22	1	0	0	0	0	1	0	0	0	364	1058	37	1	456	1	AGA	4	178358577	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5682	178358577	12795699	5655	7801											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													164	880					0	0	1	0	0	A	178360778	G	A	178360778	3	1	22	1	0	0	0	0	1	0	0	0	364	1144	40	1	722	1	AGA	4	178360778	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2201	178360778	12793498	5656	7802											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504005.1_Missense_Mutation_p.S348F|WWC2_ENST00000513834.1_Missense_Mutation_p.S617F|WWC2_ENST00000378925.3_Missense_Mutation_p.S568F|WWC2_ENST00000448232.2_Missense_Mutation_p.S666F	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													13	180					0	0	1	0	0	T	184186218	C	T	184186218	3	4	22	1	0	0	0	0	1	0	0	0	17472	913	32	2	2043	2	WWC2	4	184186218	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5825440	184186218	6968058	5657	7803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504005.1_Missense_Mutation_p.F499L|WWC2_ENST00000513834.1_Missense_Mutation_p.F768L|WWC2_ENST00000448232.2_Missense_Mutation_p.F817L	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													29	123					0	0	1	0	0	C	184192281	T	C	184192281	3	2	22	1	0	0	0	0	1	0	0	0	17472	1841	64	3	2511	3	WWC2	4	184192281	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6063	184192281	6961995	5658	7804											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	323					0	0	1	0	0	T	184367459	C	T	184367459	4	4	22	1	0	0	0	0	0	1	0	0	3184	876	31	1	632	1	CDKN2AIP	4	184367459	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175178	184367459	6786817	5659	7805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	351					0	0	1	0	0	T	184368400	A	T	184368400	3	4	22	1	0	0	0	0	1	0	0	0	3184	11	1	5	1573	5	CDKN2AIP	4	184368400	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	941	184368400	6785876	5660	7806											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	208					6.42738e-09	6.74027e-09	1	1	0	T	184431723	G	T	184431723	3	4	22	1	0	0	0	0	1	0	0	0	7780	1000	35	2	467	2	ING2	4	184431723	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63323	184431723	6722553	5661	7807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	144					0	0	1	0	0	T	184922582	C	T	184922582	3	4	22	1	0	0	0	0	1	0	0	0	15376	739	26	2	277	2	STOX2	4	184922582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	490859	184922582	6231694	5662	7808											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	331					0	0	1	0	0	T	184930594	C	T	184930594	2	4	22	1	0	0	0	0	0	0	0	1	15376	805	28	2		2	STOX2	4	184930594	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8012	184930594	6223682	5663	7809											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	30					0	0	1	0	0	T	184931469	C	T	184931469	3	4	22	1	0	0	0	0	1	0	0	0	15376	893	31	1	1488	1	STOX2	4	184931469	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	875	184931469	6222807	5664	7810											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	51					0	0	1	0	0	T	184931489	C	T	184931489	3	4	22	1	0	0	0	0	1	0	0	0	15376	623	22	2	1508	2	STOX2	4	184931489	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	184931489	6222787	5665	7811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	242					4.3838e-07	4.54049e-07	1	1	0	T	185074810	G	T	185074810	2	4	22	1	0	0	0	0	0	0	0	1	5162	1074	38	4		4	ENPP6	4	185074810	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143321	185074810	6079466	5666	7812											
CCDC111	0	broad.mit.edu	37	chr4	185606792	185606792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttatgatatttgtaaatatCggtggtgtgaaaacattgga	10	2	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:185606792C>T	ENST00000314970.6	+	11	1682	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	CCDC111_ENST00000515774.1_Missense_Mutation_p.R288W|CCDC111_ENST00000512834.1_Missense_Mutation_p.R416W|CCDC111_ENST00000503752.1_Missense_Mutation_p.R417W	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		417					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		TTGTAAATATCGGTGGTGTGA	0.279													102	411					0	0	1	0	0	T	185606792	C	T	185606792	3	4	22	1	0	0	0	0	1	0	0	0	2766	875	31	1	1283	1	CCDC111	4	185606792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	531982	185606792	5547484	5667	7813											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504342.1_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000454703.2_Nonsense_Mutation_p.Y513*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.Y650*|ACSL1_ENST00000437665.3_Nonsense_Mutation_p.Y513*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.Y684*			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													27	629					0	0	1	0	0	C	185678324	A	C	185678324	4	2	22	1	0	0	0	0	0	1	0	0	177	108	4	3	48	3	ACSL1	4	185678324	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	71532	185678324	5475952	5668	7814											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186067969C>T	ENST00000281456.5	+	4	873	c.739_splice	c.e4-1	p.A247_splice		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	247					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													21	190					0	0	1	0	0	T	186067969	C	T	186067969	5	4	22	1	0	0	0	0	0	0	1	0	14559	666	23	1	755	1	SLC25A4	4	186067969	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	389645	186067969	5086307	5669	7815											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	84					0	0	1	0	0	A	186084022	G	A	186084022	3	1	22	1	0	0	0	0	1	0	0	0	8274	1087	38	1	73	1	KIAA1430	4	186084022	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16053	186084022	5070254	5670	7816											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	302					1.34996e-11	1.44199e-11	1	1	0	T	186085198	G	T	186085198	3	4	22	1	0	0	0	0	1	0	0	0	8274	1357	47	2	150	2	KIAA1430	4	186085198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1176	186085198	5069078	5671	7817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	86					0	0	1	0	0	A	186111392	G	A	186111392	3	1	22	1	0	0	0	0	1	0	0	0	8274	1174	41	2	655	2	KIAA1430	4	186111392	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26194	186111392	5042884	5672	7818											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	95					8.58068e-18	9.49213e-18	1	1	0	A	186111567	C	A	186111567	3	1	22	1	0	0	0	0	1	0	0	0	8274	913	32	2	830	2	KIAA1430	4	186111567	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175	186111567	5042709	5673	7819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	341					0	0	1	0	0	A	186278860	G	A	186278860	3	1	22	1	0	0	0	0	1	0	0	0	14950	1145	40	1	2186	1	SNX25	4	186278860	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	167293	186278860	4875416	5674	7820											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	380					0	0	1	0	0	T	186329507	C	T	186329507	3	4	22	1	0	0	0	0	1	0	0	0	16998	884	31	1	515	1	UFSP2	4	186329507	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50647	186329507	4824769	5675	7821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	315					7.07328e-35	8.4269e-35	1	1	0	A	186329545	C	A	186329545	3	1	22	1	0	0	0	0	1	0	0	0	16998	680	24	2	553	2	UFSP2	4	186329545	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38	186329545	4824731	5676	7822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	402					0	0	1	0	0	G	186339802	T	G	186339802	3	3	22	1	0	0	0	0	1	0	0	0	16998	1841	64	3	1244	3	UFSP2	4	186339802	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10257	186339802	4814474	5677	7823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000510617.1_Missense_Mutation_p.I736N|CCDC110_ENST00000393540.3_Missense_Mutation_p.I699N	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													6	89					0	0	1	0	0	T	186379534	A	T	186379534	3	4	22	1	0	0	0	0	1	0	0	0	2765	333	12	5	302	5	CCDC110	4	186379534	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39732	186379534	4774742	5678	7824											
CCDC110	256309	broad.mit.edu	37	chr4	186380209	186380210	+	Frame_Shift_Ins	INS	-	-	T													aacattatatttactaattaINStttttttaaattctttaaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186380209_186380210insT	ENST00000307588.3	-	6	1606_1607	c.1531_1532insA	c.(1531-1533)aatfs	p.N511fs	CCDC110_ENST00000393540.3_Frame_Shift_Ins_p.N474fs|CCDC110_ENST00000510617.1_Frame_Shift_Ins_p.N511fs	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	511						nucleus		p.I511fs*3(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)		tttactaattatttttttaaat	0.277													12	104	---	---	---	---						T	186380210	-	T	186380209	7	5	22	1	0	1	1	0	0	0	0	0	2765	449	16	0	977	0	CCDC110	4	186380209	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	675	186380209	4774067	5679	7825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	495					0	0	1	0	0	A	186423589	G	A	186423589	2	1	22	1	0	0	0	0	0	0	0	1	11728	1049	37	1		1	PDLIM3	4	186423589	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43380	186423589	4730687	5680	7826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	398					0	0	1	0	0	T	186423604	C	T	186423604	2	4	22	1	0	0	0	0	0	0	0	1	11728	726	26	2		2	PDLIM3	4	186423604	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	186423604	4730672	5681	7827											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	157					0	0	1	0	0	T	186425686	C	T	186425686	3	4	22	1	0	0	0	0	1	0	0	0	11728	739	26	2	254	2	PDLIM3	4	186425686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2082	186425686	4728590	5682	7828											
PDLIM3	27295	broad.mit.edu	37	chr4	186425703	186425703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccatggactttcgtcacCggagctctcacactccgcgt	9	17	2	0	rs61734674	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186425703C>T	ENST00000284770.5	-	7	904	c.831G>A	c.(829-831)ccG>ccA	p.P277P	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.P229P	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	277						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)		CTTTCGTCACCGGAGCTCTCA	0.542													25	140					0	0	1	0	0	T	186425703	C	T	186425703	2	4	22	1	0	0	0	0	0	0	0	1	11728	639	23	1		1	PDLIM3	4	186425703	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17	186425703	4728573	5683	7829											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000284770.5_Missense_Mutation_p.G19W|PDLIM3_ENST00000284771.6_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													15	80					2.35188e-11	2.50879e-11	1	1	0	A	186456534	C	A	186456534	3	1	22	1	0	0	0	0	1	0	0	0	11728	681	24	2	1263	2	PDLIM3	4	186456534	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30831	186456534	4697742	5684	7830											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P349L|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P253L|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													34	338					0	0	1	0	0	A	186545525	G	A	186545525	3	1	22	1	0	0	0	0	1	0	0	0	14982	1348	47	2	2292	2	SORBS2	4	186545525	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88991	186545525	4608751	5685	7831											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186997978G>A	ENST00000296795.2	+	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	69					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													89	332					0	0	1	0	0	A	186997978	G	A	186997978	3	1	22	1	0	0	0	0	1	0	0	0	16012	1087	38	1	207	1	TLR3	4	186997978	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	452453	186997978	4156298	5686	7832											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187000170G>A	ENST00000296795.2	+	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	206					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													24	106					0	0	1	0	0	A	187000170	G	A	187000170	2	1	22	1	0	0	0	0	0	0	0	1	16012	1045	37	1		1	TLR3	4	187000170	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2192	187000170	4154106	5687	7833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187004176G>T	ENST00000296795.2	+	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	446					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													51	283					2.87258e-10	3.04245e-10	1	1	0	T	187004176	G	T	187004176	4	4	22	1	0	0	0	0	0	1	0	0	16012	943	33	2	1346	2	TLR3	4	187004176	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4006	187004176	4150100	5688	7834											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000514829.1_3'UTR|FAM149A_ENST00000502970.1_Silent_p.S53S|FAM149A_ENST00000227065.4_Silent_p.S53S|FAM149A_ENST00000503432.1_Silent_p.S53S|FAM149A_ENST00000389354.5_Silent_p.S53S|FAM149A_ENST00000514153.1_Silent_p.S53S			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													197	776					0	0	1	0	0	T	187074871	C	T	187074871	2	4	22	1	0	0	0	0	0	0	0	1	5485	639	23	1		1	FAM149A	4	187074871	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70695	187074871	4079405	5689	7835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000514829.1_3'UTR|FAM149A_ENST00000502970.1_Missense_Mutation_p.V170I|FAM149A_ENST00000227065.4_Missense_Mutation_p.V170I|FAM149A_ENST00000503432.1_Missense_Mutation_p.V170I|FAM149A_ENST00000389354.5_Missense_Mutation_p.V170I|FAM149A_ENST00000514153.1_Missense_Mutation_p.V170I			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													76	516					0	0	1	0	0	A	187077278	G	A	187077278	3	1	22	1	0	0	0	0	1	0	0	0	5485	1145	40	1	522	1	FAM149A	4	187077278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2407	187077278	4076998	5690	7836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000514829.1_3'UTR|FAM149A_ENST00000502970.1_Missense_Mutation_p.P208L|FAM149A_ENST00000227065.4_Missense_Mutation_p.P208L|FAM149A_ENST00000503432.1_Missense_Mutation_p.P208L|FAM149A_ENST00000389354.5_Missense_Mutation_p.P208L|FAM149A_ENST00000514153.1_Missense_Mutation_p.P208L			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													53	313					0	0	1	0	0	T	187078767	C	T	187078767	3	4	22	1	0	0	0	0	1	0	0	0	5485	652	23	1	641	1	FAM149A	4	187078767	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1489	187078767	4075509	5691	7837											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000502970.1_Silent_p.P297P|FAM149A_ENST00000227065.4_Silent_p.P297P|FAM149A_ENST00000503432.1_Silent_p.P297P|FAM149A_ENST00000389354.5_Silent_p.P297P|FAM149A_ENST00000514153.1_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													39	302					0	0	1	0	0	A	187084635	G	A	187084635	2	1	22	1	0	0	0	0	0	0	0	1	5485	1074	38	1		1	FAM149A	4	187084635	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5868	187084635	4069641	5692	7838											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000502970.1_Missense_Mutation_p.S433L|FAM149A_ENST00000227065.4_Missense_Mutation_p.S433L|FAM149A_ENST00000503432.1_Missense_Mutation_p.S433L|FAM149A_ENST00000389354.5_Missense_Mutation_p.S433L|FAM149A_ENST00000514153.1_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													135	452					0	0	1	0	0	T	187088339	C	T	187088339	3	4	22	1	0	0	0	0	1	0	0	0	5485	893	31	1	1336	1	FAM149A	4	187088339	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3704	187088339	4065937	5693	7839											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	488					0	0	1	0	0	A	187130376	G	A	187130376	3	1	22	1	0	0	0	0	1	0	0	0	4215	1087	38	1	1393	1	CYP4V2	4	187130376	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42037	187130376	4023900	5694	7840											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	334					0	0	1	0	0	T	187178451	C	T	187178451	4	4	22	1	0	0	0	0	0	1	0	0	8455	827	29	2	1707	2	KLKB1	4	187178451	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48075	187178451	3975825	5695	7841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													137	520					0	0	1	0	0	T	187454932	C	T	187454932	3	4	22	1	0	0	0	0	1	0	0	0	9999	855	30	2	92	2	MTNR1A	4	187454932	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	276481	187454932	3699344	5696	7842											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			67	266					7.59065e-32	8.94676e-32	1	1	0	A	187534419	C	A	187534419	4	1	22	1	0	0	0	0	0	1	0	0	5722	690	24	2	4519	2	FAT1	4	187534419	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79487	187534419	3619857	5697	7843											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			84	317					4.41824e-40	5.35239e-40	1	1	0	T	187535439	G	T	187535439	2	4	22	1	0	0	0	0	0	0	0	1	5722	932	33	2		2	FAT1	4	187535439	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1020	187535439	3618837	5698	7844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			19	121					1.56452e-12	1.68123e-12	1	1	0	A	187538356	C	A	187538356	5	1	22	1	0	0	0	0	0	0	1	0	5722	695	24	2	4956	2	FAT1	4	187538356	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2917	187538356	3615920	5699	7845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			53	218					0	0	1	0	0	T	187539140	C	T	187539140	3	4	22	1	0	0	0	0	1	0	0	0	5722	739	26	2	5238	2	FAT1	4	187539140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	784	187539140	3615136	5700	7846											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			6	173					0.0293803	0.0294705	1	1	0	A	187539828	C	A	187539828	3	1	22	1	0	0	0	0	1	0	0	0	5722	913	32	2	5926	2	FAT1	4	187539828	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	688	187539828	3614448	5701	7847											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			70	901					1.46168e-27	1.69373e-27	1	1	0	A	187540331	C	A	187540331	3	1	22	1	0	0	0	0	1	0	0	0	5722	855	30	2	6429	2	FAT1	4	187540331	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	503	187540331	3613945	5702	7848											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			61	601					3.40343e-31	4.00304e-31	1	1	0	A	187540407	C	A	187540407	3	1	22	1	0	0	0	0	1	0	0	0	5722	681	24	2	6505	2	FAT1	4	187540407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76	187540407	3613869	5703	7849											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			47	589					8.72198e-27	1.00714e-26	1	1	0	A	187540695	C	A	187540695	3	1	22	1	0	0	0	0	1	0	0	0	5722	855	30	2	6793	2	FAT1	4	187540695	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	288	187540695	3613581	5704	7850											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			74	728					0	0	1	0	0	T	187628088	C	T	187628088	3	4	22	1	0	0	0	0	1	0	0	0	5722	797	28	2	10976	2	FAT1	4	187628088	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87393	187628088	3526188	5705	7851											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			61	459					0	0	1	0	0	T	187630410	C	T	187630410	3	4	22	1	0	0	0	0	1	0	0	0	5722	884	31	1	13298	1	FAT1	4	187630410	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2322	187630410	3523866	5706	7852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	188					0	0	1	0	0	A	188924725	G	A	188924725	3	1	22	1	0	0	0	0	1	0	0	0	17708	1087	38	1	766	1	ZFP42	4	188924725	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1294315	188924725	2229551	5707	7853											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	452					0	0	1	0	0	T	189012679	C	T	189012679	3	4	22	1	0	0	0	0	1	0	0	0	16612	893	31	1	155	1	TRIML2	4	189012679	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87954	189012679	2141597	5708	7854											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000326754.3_Intron|TRIML2_ENST00000512729.1_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													20	97					2.94398e-08	3.0722e-08	1	1	0	A	189020151	C	A	189020151	3	1	22	1	0	0	0	0	1	0	0	0	16612	580	20	2		2	TRIML2	4	189020151	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7472	189020151	2134125	5709	7855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	869					0	0	1	0	0	A	189067986	G	A	189067986	2	1	22	1	0	0	0	0	0	0	0	1	16611	1074	38	1		1	TRIML1	4	189067986	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47835	189067986	2086290	5710	7856											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	54					0.000602214	0.000609647	1	1	0	T	140602	G	T	140602	3	4	22	1	0	0	0	0	1	0	0	0	12120	991	35	2	182	2	PLEKHG4B	5	140602	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08		140602	180774658	5711	7857											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	126					0	0	1	0	0	A	182382	G	A	182382	3	1	22	1	0	0	0	0	1	0	0	0	12120	1203	42	2	3830	2	PLEKHG4B	5	182382	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41780	182382	180732878	5712	7858											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	67					0	0	1	0	0	G	194943	A	G	194943	2	3	22	1	0	0	0	0	0	0	0	1	9014	262	10	3		3	LRRC14B	5	194943	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12561	194943	180720317	5713	7859											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													177	676					0	0	1	0	0	T	195268	C	T	195268	4	4	22	1	0	0	0	0	0	1	0	0	9014	711	25	2	1351	2	LRRC14B	5	195268	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325	195268	180719992	5714	7860											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				30	272					0	0	1	0	0	A	235284	G	A	235284	3	1	22	1	0	0	0	0	1	0	0	0	14017	1145	40	1	1124	1	SDHA	5	235284	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40016	235284	180679976	5715	7861											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000507522.1_3'UTR|SDHA_ENST00000504309.1_Intron|SDHA_ENST00000510361.1_Missense_Mutation_p.A543V	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				47	188					0	0	1	0	0	T	251561	C	T	251561	3	4	22	1	0	0	0	0	1	0	0	0	14017	768	27	1	1822	1	SDHA	5	251561	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16277	251561	180663699	5716	7862											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000506456.1_Missense_Mutation_p.A114V|AHRR_ENST00000505113.1_Missense_Mutation_p.A258V	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													50	230					0	0	1	0	0	T	427974	C	T	427974	3	4	22	1	0	0	0	0	1	0	0	0	414	768	27	1	861	1	AHRR	5	427974	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176413	427974	180487286	5717	7863											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000506456.1_Silent_p.D270D|AHRR_ENST00000505113.1_Silent_p.D414D	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													38	163					0	0	1	0	0	C	434085	T	C	434085	2	2	22	1	0	0	0	0	0	0	0	1	414	1461	51	3		3	AHRR	5	434085	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6111	434085	180481175	5718	7864											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	321					0	0	1	0	0	T	446344	C	T	446344	2	4	22	1	0	0	0	0	0	0	0	1	5330	639	23	1		1	EXOC3	5	446344	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12259	446344	180468916	5719	7865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	297					0	0	1	0	0	C	453694	T	C	453694	3	2	22	1	0	0	0	0	1	0	0	0	5330	1696	59	3	584	3	EXOC3	5	453694	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7350	453694	180461566	5720	7866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	302					0	0	1	0	0	T	485298	C	T	485298	3	4	22	1	0	0	0	0	1	0	0	0	14768	536	19	1	1836	1	SLC9A3	5	485298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31604	485298	180429962	5721	7867											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	724					0	0	1	0	0	A	619199	G	A	619199	2	1	22	1	0	0	0	0	0	0	0	1	3282	1339	47	2		2	CEP72	5	619199	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133901	619199	180296061	5722	7868											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	422					0	0	1	0	0	A	639260	G	A	639260	2	1	22	1	0	0	0	0	0	0	0	1	3282	1074	38	1		1	CEP72	5	639260	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20061	639260	180276000	5723	7869											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	182					0	0	1	0	0	G	653215	A	G	653215	3	3	22	1	0	0	0	0	1	0	0	0	3282	217	8	3	1937	3	CEP72	5	653215	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13955	653215	180262045	5724	7870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	276					0	0	1	0	0	A	677962	G	A	677962	3	1	22	1	0	0	0	0	1	0	0	0	16474	1319	46	2	457	2	TPPP	5	677962	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24747	677962	180237298	5725	7871											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	131					0	0	1	0	0	T	678080	C	T	678080	2	4	22	1	0	0	0	0	0	0	0	1	16474	755	27	1		1	TPPP	5	678080	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118	678080	180237180	5726	7872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_033120.2	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													24	121					0	0	1	0	0	T	1034966	C	T	1034966	2	4	22	1	0	0	0	0	0	0	0	1	10489	639	23	1		1	NKD2	5	1034966	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	356886	1034966	179880294	5727	7873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	585					8.28887e-21	9.30627e-21	1	1	0	T	1052522	G	T	1052522	3	4	22	1	0	0	0	0	1	0	0	0	14443	1000	35	2	50	2	SLC12A7	5	1052522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17556	1052522	179862738	5728	7874											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	507					0	0	1	0	0	A	1052541	G	A	1052541	2	1	22	1	0	0	0	0	0	0	0	1	14443	1103	39	1		1	SLC12A7	5	1052541	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19	1052541	179862719	5729	7875											
SLC12A7	10723	broad.mit.edu	37	chr5	1064240	1064240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcagcatgagcatgccGccgtcgtgcacgatccacca	12	15	0	1	rs137938985	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1064240G>A	ENST00000264930.5	-	19	2608	c.2565C>T	c.(2563-2565)ggC>ggT	p.G855G		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	855					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)	TGAGCATGCCGCCGTCGTGCA	0.687													12	195					0	0	1	0	0	A	1064240	G	A	1064240	2	1	22	1	0	0	0	0	0	0	0	1	14443	1074	38	1		1	SLC12A7	5	1064240	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11699	1064240	179851020	5730	7876											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	219					0	0	1	0	0	A	1084037	G	A	1084037	3	1	22	1	0	0	0	0	1	0	0	0	14443	1087	38	1	2367	1	SLC12A7	5	1084037	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19797	1084037	179831223	5731	7877											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	420					0	0	1	0	0	T	1232923	C	T	1232923	3	4	22	1	0	0	0	0	1	0	0	0	14736	768	27	1	369	1	SLC6A18	5	1232923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148886	1232923	179682337	5732	7878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	287					0	0	1	0	0	T	1240706	C	T	1240706	2	4	22	1	0	0	0	0	0	0	0	1	14736	547	19	1		1	SLC6A18	5	1240706	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7783	1240706	179674554	5733	7879											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	256					6.31075e-24	7.19376e-24	1	1	0	T	1242833	G	T	1242833	3	4	22	1	0	0	0	0	1	0	0	0	14736	971	34	2	1016	2	SLC6A18	5	1242833	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2127	1242833	179672427	5734	7880											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334602.6_Missense_Mutation_p.M991V|TERT_ENST00000296820.5_3'UTR	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				29	108					0	0	1	0	0	C	1254618	T	C	1254618	3	2	22	1	0	0	0	0	1	0	0	0	15823	1435	50	3	246	3	TERT	5	1254618	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11785	1254618	179660642	5735	7881											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508104.2_Missense_Mutation_p.E555K|TERT_ENST00000334602.6_Missense_Mutation_p.E555K|TERT_ENST00000296820.5_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				66	364					0	0	1	0	0	T	1282650	C	T	1282650	3	4	22	1	0	0	0	0	1	0	0	0	15823	893	31	1	1791	1	TERT	5	1282650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28032	1282650	179632610	5736	7882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	161					0	0	1	0	0	A	1403077	G	A	1403077	3	1	22	1	0	0	0	0	1	0	0	0	14740	1087	38	1	147	1	SLC6A3	5	1403077	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120427	1403077	179512183	5737	7883											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	270					0	0	1	0	0	T	1414875	C	T	1414875	3	4	22	1	0	0	0	0	1	0	0	0	14740	536	19	1	807	1	SLC6A3	5	1414875	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11798	1414875	179500385	5738	7884											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	227					0	0	1	0	0	A	1802444	G	A	1802444	3	1	22	1	0	0	0	0	1	0	0	0	10343	1290	45	2	148	2	NDUFS6	5	1802444	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	387569	1802444	179112816	5739	7885											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	179					0	0	1	0	0	A	2747723	G	A	2747723	2	1	22	1	0	0	0	0	0	0	0	1	7888	1078	38	1		1	IRX2	5	2747723	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	945279	2747723	178167537	5740	7886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000302057.5_Missense_Mutation_p.A278V|IRX2_ENST00000502957.1_5'UTR	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													24	109					0	0	1	0	0	A	2748989	G	A	2748989	3	1	22	1	0	0	0	0	1	0	0	0	7888	1087	38	1	590	1	IRX2	5	2748989	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1266	2748989	178166271	5741	7887											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000302057.5_Silent_p.D270D|IRX2_ENST00000502957.1_5'UTR	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													25	118					0	0	1	0	0	A	2749012	G	A	2749012	2	1	22	1	0	0	0	0	0	0	0	1	7888	1136	40	1		1	IRX2	5	2749012	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	2749012	178166248	5742	7888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000302057.5_Silent_p.D266D|IRX2_ENST00000502957.1_5'UTR	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													22	131					0	0	1	0	0	A	2749024	G	A	2749024	2	1	22	1	0	0	0	0	0	0	0	1	7888	1136	40	1		1	IRX2	5	2749024	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12	2749024	178166236	5743	7889											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000302057.5_Silent_p.D201D|IRX2_ENST00000502957.1_5'UTR	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													54	280					0	0	1	0	0	A	2749548	G	A	2749548	2	1	22	1	0	0	0	0	0	0	0	1	7888	1136	40	1		1	IRX2	5	2749548	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	524	2749548	178165712	5744	7890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000302057.5_Missense_Mutation_p.T179I|IRX2_ENST00000502957.1_5'UTR	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													103	437					0	0	1	0	0	A	2749615	G	A	2749615	3	1	22	1	0	0	0	0	1	0	0	0	7888	1261	44	2	891	2	IRX2	5	2749615	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	2749615	178165645	5745	7891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000302057.5_Silent_p.Y87Y|IRX2_ENST00000502957.1_5'UTR	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													42	279					0	0	1	0	0	A	2749890	G	A	2749890	2	1	22	1	0	0	0	0	0	0	0	1	7888	1140	40	1		1	IRX2	5	2749890	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275	2749890	178165370	5746	7892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000505778.1_Missense_Mutation_p.A48T|C5orf38_ENST00000397835.4_Missense_Mutation_p.A48T|C5orf38_ENST00000334000.3_Missense_Mutation_p.A48T|C5orf38_ENST00000457752.2_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													20	63					0	0	1	0	0	A	2752520	G	A	2752520	3	1	22	1	0	0	0	0	1	0	0	0	2311	1087	38	1	144	1	C5orf38	5	2752520	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2630	2752520	178162740	5747	7893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	498					2.05912e-35	2.45818e-35	1	1	0	T	3599539	G	T	3599539	3	4	22	1	0	0	0	0	1	0	0	0	7887	933	33	2	483	2	IRX1	5	3599539	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	847019	3599539	177315721	5748	7894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	291					0	0	1	0	0	T	3599698	C	T	3599698	2	4	22	1	0	0	0	0	0	0	0	1	7887	755	27	1		1	IRX1	5	3599698	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159	3599698	177315562	5749	7895											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	94					0	0	1	0	0	A	3600167	G	A	3600167	3	1	22	1	0	0	0	0	1	0	0	0	7887	1116	39	1	1111	1	IRX1	5	3600167	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	469	3600167	177315093	5750	7896											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	405					0	0	1	0	0	T	3600738	C	T	3600738	3	4	22	1	0	0	0	0	1	0	0	0	7887	623	22	2	1338	2	IRX1	5	3600738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	571	3600738	177314522	5751	7897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	470					0	0	1	0	0	A	5232600	T	A	5232600	2	1	22	1	0	0	0	0	0	0	0	1	260	1538	54	5		5	ADAMTS16	5	5232600	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1631862	5232600	175682660	5752	7898											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													145	474					0	0	1	0	0	T	5239367	C	T	5239367	3	4	22	1	0	0	0	0	1	0	0	0	260	507	18	2	2316	2	ADAMTS16	5	5239367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6767	5239367	175675893	5753	7899											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	369					0	0	1	0	0	C	5306689	T	C	5306689	3	2	22	1	0	0	0	0	1	0	0	0	260	1638	57	3	3341	3	ADAMTS16	5	5306689	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	67322	5306689	175608571	5754	7900											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	277					0	0	1	0	0	A	5306714	G	A	5306714	3	1	22	1	0	0	0	0	1	0	0	0	260	1319	46	2	3366	2	ADAMTS16	5	5306714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25	5306714	175608546	5755	7901											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	109					0	0	1	0	0	T	5460762	A	T	5460762	3	4	22	1	0	0	0	0	1	0	0	0	8244	43	2	5	1365	5	KIAA0947	5	5460762	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	154048	5460762	175454498	5756	7902											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	72					0	0	1	0	0	T	5463617	C	T	5463617	2	4	22	1	0	0	0	0	0	0	0	1	8244	639	23	1		1	KIAA0947	5	5463617	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2855	5463617	175451643	5757	7903											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	148					0	0	1	0	0	T	5463972	C	T	5463972	3	4	22	1	0	0	0	0	1	0	0	0	8244	884	31	1	4575	1	KIAA0947	5	5463972	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	355	5463972	175451288	5758	7904											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	108					0	0	1	0	0	T	5464772	C	T	5464772	2	4	22	1	0	0	0	0	0	0	0	1	8244	813	29	2		2	KIAA0947	5	5464772	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	800	5464772	175450488	5759	7905											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	75					0	0	1	0	0	T	5489440	C	T	5489440	2	4	22	1	0	0	0	0	0	0	0	1	8244	784	28	2		2	KIAA0947	5	5489440	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24668	5489440	175425820	5760	7906											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	313					0	0	1	0	0	T	6372625	C	T	6372625	2	4	22	1	0	0	0	0	0	0	0	1	9476	755	27	1		1	MED10	5	6372625	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	883185	6372625	174542635	5761	7907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	112					0	0	1	0	0	T	6378502	C	T	6378502	3	4	22	1	0	0	0	0	1	0	0	0	9476	797	28	2	328	2	MED10	5	6378502	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5877	6378502	174536758	5762	7908											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539938.1_Missense_Mutation_p.D390A|NSUN2_ENST00000506139.1_Missense_Mutation_p.D591A	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													41	195					0	0	1	0	0	G	6604331	T	G	6604331	3	3	22	1	0	0	0	0	1	0	0	0	10726	1435	50	3	438	3	NSUN2	5	6604331	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	225829	6604331	174310929	5763	7909											
PAPD7	11044	broad.mit.edu	37	chr5	6751208	6751208	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccagttcagtctgcaagcGccagctcctctcatggccgg	10	15	3	0	rs113180271	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6751208G>A	ENST00000230859.6	+	11	1296	c.1167G>A	c.(1165-1167)gcG>gcA	p.A389A		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	389					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						GTCTGCAAGCGCCAGCTCCTC	0.532													121	510					0	0	1	0	0	A	6751208	G	A	6751208	2	1	22	1	0	0	0	0	0	0	0	1	11473	1074	38	1		1	PAPD7	5	6751208	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146877	6751208	174164052	5764	7910											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	126					0	0	1	0	0	A	7713003	G	A	7713003	3	1	22	1	0	0	0	0	1	0	0	0	293	1087	38	1	1655	1	ADCY2	5	7713003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	961795	7713003	173202257	5765	7911											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	277					0	0	1	0	0	A	7717276	G	A	7717276	2	1	22	1	0	0	0	0	0	0	0	1	293	1020	36	2		2	ADCY2	5	7717276	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4273	7717276	173197984	5766	7912											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													124	660					1.49341e-58	1.8736e-58	1	1	0	T	7832130	G	T	7832130	3	4	22	1	0	0	0	0	1	0	0	0	2322	1203	42	2	170	2	C5orf49	5	7832130	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114854	7832130	173083130	5767	7913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron	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													104	459					0	0	1	0	0	C	7861322	T	C	7861322	2	2	22	1	0	0	0	0	0	0	0	1	5720	1635	57	3		3	FASTKD3	5	7861322	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29192	7861322	173053938	5768	7914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_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													62	289					0	0	1	0	0	A	7866895	G	A	7866895	2	1	22	1	0	0	0	0	0	0	0	1	5720	1136	40	1		1	FASTKD3	5	7866895	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5573	7866895	173048365	5769	7915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_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													103	455					1.14904e-54	1.4347e-54	1	1	0	T	7867281	G	T	7867281	3	4	22	1	0	0	0	0	1	0	0	0	5720	942	33	2	1096	2	FASTKD3	5	7867281	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	386	7867281	173047979	5770	7916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_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													9	525					0	0	1	0	0	C	7867410	A	C	7867410	3	2	22	1	0	0	0	0	1	0	0	0	5720	69	3	3	1225	3	FASTKD3	5	7867410	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	129	7867410	173047850	5771	7917											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_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													40	383					0	0	1	0	0	A	7868079	G	A	7868079	3	1	22	1	0	0	0	0	1	0	0	0	5720	1087	38	1	1894	1	FASTKD3	5	7868079	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	669	7868079	173047181	5772	7918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	252					0	0	1	0	0	G	7897209	A	G	7897209	3	3	22	1	0	0	0	0	1	0	0	0	10009	333	12	3	1936	3	MTRR	5	7897209	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29130	7897209	173018051	5773	7919											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	262					0	0	1	0	0	A	9122771	G	A	9122771	3	1	22	1	0	0	0	0	1	0	0	0	14091	1174	41	2	1486	2	SEMA5A	5	9122771	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1225562	9122771	171792489	5774	7920											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	379					0	0	1	0	0	A	9154665	G	A	9154665	2	1	22	1	0	0	0	0	0	0	0	1	14091	1049	37	1		1	SEMA5A	5	9154665	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31894	9154665	171760595	5775	7921											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	498					0	0	1	0	0	A	9197373	G	A	9197373	2	1	22	1	0	0	0	0	0	0	0	1	14091	1078	38	1		1	SEMA5A	5	9197373	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42708	9197373	171717887	5776	7922											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	453					0	0	1	0	0	T	9380032	C	T	9380032	4	4	22	1	0	0	0	0	0	1	0	0	14091	740	26	2	3281	2	SEMA5A	5	9380032	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182659	9380032	171535228	5777	7923											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	200					2.91434e-09	3.06361e-09	1	1	0	A	9629925	C	A	9629925	4	1	22	1	0	0	0	0	0	1	0	0	15622	922	32	2	683	2	TAS2R1	5	9629925	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249893	9629925	171285335	5778	7924											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000280330.8_5'UTR|FAM173B_ENST00000510052.1_Intron	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													57	326					0	0	1	0	0	T	10236629	C	T	10236629	2	4	22	1	0	0	0	0	0	0	0	1	5524	697	25	2		2	FAM173B	5	10236629	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	606704	10236629	170678631	5779	7925											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000280330.8_5'UTR|FAM173B_ENST00000510052.1_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													106	424					0	0	1	0	0	G	10239412	T	G	10239412	3	3	22	1	0	0	0	0	1	0	0	0	5524	1609	56	3	644	3	FAM173B	5	10239412	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2783	10239412	170675848	5780	7926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515390.1_Silent_p.Y12Y|CCT5_ENST00000503026.1_Intron	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													32	206					0	0	1	0	0	C	10250488	T	C	10250488	2	2	22	1	0	0	0	0	0	0	0	1	2978	1471	51	3		3	CCT5	5	10250488	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11076	10250488	170664772	5781	7927											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000506600.1_Silent_p.S59S|CCT5_ENST00000515390.1_Silent_p.S97S|CCT5_ENST00000503026.1_Silent_p.S131S|CCT5_ENST00000515676.1_Silent_p.S114S	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													15	131					0	0	1	0	0	T	10256191	C	T	10256191	2	4	22	1	0	0	0	0	0	0	0	1	2978	767	27	1		1	CCT5	5	10256191	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5703	10256191	170659069	5782	7928											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000506600.1_Silent_p.Y187Y|CCT5_ENST00000515390.1_Silent_p.Y225Y|CCT5_ENST00000503026.1_Silent_p.Y259Y|CCT5_ENST00000515676.1_Silent_p.Y242Y	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													62	352					0	0	1	0	0	T	10258614	C	T	10258614	2	4	22	1	0	0	0	0	0	0	0	1	2978	547	19	1		1	CCT5	5	10258614	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2423	10258614	170656646	5783	7929											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000506600.1_Silent_p.I281I|CCT5_ENST00000515390.1_Silent_p.I319I|CCT5_ENST00000503026.1_Silent_p.I353I|CCT5_ENST00000515676.1_Silent_p.I336I	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													154	740					0	0	1	0	0	T	10261800	C	T	10261800	2	4	22	1	0	0	0	0	0	0	0	1	2978	874	31	1		1	CCT5	5	10261800	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3186	10261800	170653460	5784	7930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503788.1_Missense_Mutation_p.E133D|MARCH6_ENST00000449913.2_Missense_Mutation_p.E190D	NM_005885.2	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													11	183					3.03607e-14	3.29445e-14	1	1	0	T	10391791	G	T	10391791	3	4	22	1	0	0	0	0	1	0	0	0	9355	991	35	2	740	2	MARCH6	5	10391791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129991	10391791	170523469	5785	7931											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.A163V|CTNND2_ENST00000359640.2_Missense_Mutation_p.A500V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A67V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A409V	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													67	631					0	0	1	0	0	A	11346613	G	A	11346613	3	1	22	1	0	0	0	0	1	0	0	0	4044	1087	38	1	2234	1	CTNND2	5	11346613	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	954822	11346613	169568647	5786	7932											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000359640.2_Silent_p.E370E|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000511377.1_Silent_p.E279E	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													27	109					0	0	1	0	0	T	11384844	C	T	11384844	2	4	22	1	0	0	0	0	0	0	0	1	4044	796	28	2		2	CTNND2	5	11384844	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38231	11384844	169530416	5787	7933											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503622.1_Intron|CTNND2_ENST00000359640.2_Silent_p.I319I|CTNND2_ENST00000458100.2_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													24	93					0	0	1	0	0	A	11384997	G	A	11384997	2	1	22	1	0	0	0	0	0	0	0	1	4044	1048	37	1		1	CTNND2	5	11384997	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153	11384997	169530263	5788	7934											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				129	716					0	0	1	0	0	T	13700841	C	T	13700841	3	4	22	1	0	0	0	0	1	0	0	0	4632	739	26	2	251	2	DNAH5	5	13700841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2315844	13700841	167214419	5789	7935											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				12	314					0.0167234	0.0167961	1	1	0	T	13762877	G	T	13762877	3	4	22	1	0	0	0	0	1	0	0	0	4632	971	34	2	3719	2	DNAH5	5	13762877	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62036	13762877	167152383	5790	7936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				91	530					0	0	1	0	0	T	13766267	C	T	13766267	3	4	22	1	0	0	0	0	1	0	0	0	4632	768	27	1	4039	1	DNAH5	5	13766267	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3390	13766267	167148993	5791	7937											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000509967.2_Missense_Mutation_p.T588A|TRIO_ENST00000537187.1_Missense_Mutation_p.T637A	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													66	262					0	0	1	0	0	G	14336699	A	G	14336699	3	3	22	1	0	0	0	0	1	0	0	0	16613	275	10	3	1951	3	TRIO	5	14336699	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	570432	14336699	166578561	5792	7938											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000509967.2_Nonsense_Mutation_p.R617*|TRIO_ENST00000537187.1_Nonsense_Mutation_p.R666*	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													38	230					0	0	1	0	0	T	14336786	C	T	14336786	4	4	22	1	0	0	0	0	0	1	0	0	16613	760	27	1	2038	1	TRIO	5	14336786	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87	14336786	166578474	5793	7939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000509967.2_Silent_p.S976S|TRIO_ENST00000537187.1_Silent_p.S1025S	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													51	289					0	0	1	0	0	T	14369491	C	T	14369491	2	4	22	1	0	0	0	0	0	0	0	1	16613	767	27	1		1	TRIO	5	14369491	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32705	14369491	166545769	5794	7940											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000509967.2_Nonsense_Mutation_p.R1227*|TRIO_ENST00000537187.1_Nonsense_Mutation_p.R1276*	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													49	179					0	0	1	0	0	T	14387901	C	T	14387901	4	4	22	1	0	0	0	0	0	1	0	0	16613	876	31	1	3916	1	TRIO	5	14387901	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18410	14387901	166527359	5795	7941											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	290					0	0	1	0	0	A	14406776	G	A	14406776	3	1	22	1	0	0	0	0	1	0	0	0	16613	1058	37	1	5084	1	TRIO	5	14406776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18875	14406776	166508484	5796	7942											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	499					0	0	1	0	0	T	14482807	C	T	14482807	2	4	22	1	0	0	0	0	0	0	0	1	16613	874	31	1		1	TRIO	5	14482807	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76031	14482807	166432453	5797	7943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	448					0	0	1	0	0	T	14485295	C	T	14485295	3	4	22	1	0	0	0	0	1	0	0	0	16613	643	23	1	6961	1	TRIO	5	14485295	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2488	14485295	166429965	5798	7944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	322					0	0	1	0	0	G	14485348	T	G	14485348	3	3	22	1	0	0	0	0	1	0	0	0	16613	1838	64	3	7014	3	TRIO	5	14485348	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	53	14485348	166429912	5799	7945											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	627					0	0	1	0	0	G	14601224	A	G	14601224	3	3	22	1	0	0	0	0	1	0	0	0	5418	72	3	3	221	3	FAM105A	5	14601224	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	115876	14601224	166314036	5800	7946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	465					9.31168e-06	9.55451e-06	1	1	0	A	14692988	C	A	14692988	3	1	22	1	0	0	0	0	1	0	0	0	5419	797	28	2	916	2	FAM105B	5	14692988	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91764	14692988	166222272	5801	7947											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000510662.1_Silent_p.R211R|FBXL7_ENST00000329673.7_Silent_p.R246R	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													29	172					2.4375e-19	2.7179e-19	1	1	0	T	15936593	G	T	15936593	2	4	22	1	0	0	0	0	0	0	0	1	5757	1219	43	2		2	FBXL7	5	15936593	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1243605	15936593	164978667	5802	7948											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000510662.1_Silent_p.G268G|FBXL7_ENST00000329673.7_Silent_p.G303G	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													26	139					0	0	1	0	0	T	15936764	C	T	15936764	2	4	22	1	0	0	0	0	0	0	0	1	5757	726	26	2		2	FBXL7	5	15936764	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171	15936764	164978496	5803	7949											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	210					0	0	1	0	0	T	16177968	C	T	16177968	3	4	22	1	0	0	0	0	1	0	0	0	9350	884	31	1	660	1	MARCH11	5	16177968	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	241204	16177968	164737292	5804	7950											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427430.2_Silent_p.I1369I|MYO10_ENST00000505695.1_Silent_p.I1351I|MYO10_ENST00000515803.1_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													87	555					0	0	1	0	0	A	16668425	G	A	16668425	2	1	22	1	0	0	0	0	0	0	0	1	10110	1048	37	1		1	MYO10	5	16668425	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	490457	16668425	164246835	5805	7951											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427430.2_Missense_Mutation_p.L1187I|MYO10_ENST00000505695.1_Missense_Mutation_p.L1169I|MYO10_ENST00000515803.1_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													25	140					2.79863e-10	2.965e-10	1	1	0	T	16671030	G	T	16671030	3	4	22	1	0	0	0	0	1	0	0	0	10110	942	33	2	700	2	MYO10	5	16671030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2605	16671030	164244230	5806	7952											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427430.2_Silent_p.G1065G|MYO10_ENST00000505695.1_Silent_p.G1047G|MYO10_ENST00000515803.1_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													36	171					0	0	1	0	0	A	16673839	G	A	16673839	2	1	22	1	0	0	0	0	0	0	0	1	10110	1074	38	1		1	MYO10	5	16673839	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2809	16673839	164241421	5807	7953											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427430.2_Silent_p.I636I|MYO10_ENST00000505695.1_Silent_p.I618I|MYO10_ENST00000515803.1_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													32	180					0	0	1	0	0	A	16689992	G	A	16689992	2	1	22	1	0	0	0	0	0	0	0	1	10110	1048	37	1		1	MYO10	5	16689992	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16153	16689992	164225268	5808	7954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427430.2_Missense_Mutation_p.G580R|MYO10_ENST00000505695.1_Missense_Mutation_p.G562R|MYO10_ENST00000515803.1_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													86	473					0	0	1	0	0	T	16694613	C	T	16694613	3	4	22	1	0	0	0	0	1	0	0	0	10110	681	24	2	2569	2	MYO10	5	16694613	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4621	16694613	164220647	5809	7955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427430.2_Silent_p.S368S|MYO10_ENST00000505695.1_Silent_p.S350S|MYO10_ENST00000515803.1_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													25	181					0	0	1	0	0	A	16701471	G	A	16701471	2	1	22	1	0	0	0	0	0	0	0	1	10110	1078	38	1		1	MYO10	5	16701471	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6858	16701471	164213789	5810	7956											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	137					0	0	1	0	0	G	16766233	A	G	16766233	3	3	22	1	0	0	0	0	1	0	0	0	10110	43	2	3	5165	3	MYO10	5	16766233	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	64762	16766233	164149027	5811	7957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	89					0	0	1	0	0	A	17275470	G	A	17275470	3	1	22	1	0	0	0	0	1	0	0	0	1315	1087	38	1	147	1	BASP1	5	17275470	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	509237	17275470	163639790	5812	7958											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000506372.1_3'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.A618T|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000382275.1_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													30	170					0	0	1	0	0	T	19483440	C	T	19483440	3	4	22	1	0	0	0	0	1	0	0	0	3125	768	27	1	528	1	CDH18	5	19483440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2207970	19483440	161431820	5813	7959											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000506372.1_Missense_Mutation_p.D427N|CDH18_ENST00000274170.4_Missense_Mutation_p.D427N|CDH18_ENST00000502796.1_Missense_Mutation_p.D427N|CDH18_ENST00000382275.1_Missense_Mutation_p.D427N|CDH18_ENST00000511273.1_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													47	168					0	0	1	0	0	T	19544089	C	T	19544089	3	4	22	1	0	0	0	0	1	0	0	0	3125	913	32	2	1113	2	CDH18	5	19544089	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60649	19544089	161371171	5814	7960											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000506372.1_Missense_Mutation_p.D240A|CDH18_ENST00000274170.4_Missense_Mutation_p.D240A|CDH18_ENST00000502796.1_Missense_Mutation_p.D240A|CDH18_ENST00000382275.1_Missense_Mutation_p.D240A|CDH18_ENST00000511273.1_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													54	232					0	0	1	0	0	G	19612635	T	G	19612635	3	3	22	1	0	0	0	0	1	0	0	0	3125	1667	58	3	1685	3	CDH18	5	19612635	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	68546	19612635	161302625	5815	7961											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|CDH12_ENST00000504376.2_Missense_Mutation_p.S574I|CDH12_ENST00000522262.1_Missense_Mutation_p.S534I|RP11-804N13.1_ENST00000522350.1_RNA	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)			12	371					4.36969e-10	4.6211e-10	1	1	0	A	21755864	C	A	21755864	3	1	22	1	0	0	0	0	1	0	0	0	3120	797	28	2	671	2	CDH12	5	21755864	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2143229	21755864	159159396	5816	7962											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			167	851					0	0	1	0	0	G	22078698	T	G	22078698	3	3	22	1	0	0	0	0	1	0	0	0	3120	1667	58	3	2340	3	CDH12	5	22078698	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	322834	22078698	158836562	5817	7963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			91	363					0	0	1	0	0	A	23509692	G	A	23509692	2	1	22	1	0	0	0	0	0	0	0	1	12515	1277	45	2		2	PRDM9	5	23509692	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1430994	23509692	157405568	5818	7964											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			125	671					0	0	1	0	0	T	23522454	C	T	23522454	4	4	22	1	0	0	0	0	0	1	0	0	12515	760	27	1	572	1	PRDM9	5	23522454	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12762	23522454	157392806	5819	7965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			36	195					0	0	1	0	0	A	23522797	G	A	23522797	3	1	22	1	0	0	0	0	1	0	0	0	12515	1319	46	2	711	2	PRDM9	5	23522797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	343	23522797	157392463	5820	7966											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			6	223					0.00116845	0.00118049	1	1	0	T	23526654	G	T	23526654	3	4	22	1	0	0	0	0	1	0	0	0	12515	971	34	2	1495	2	PRDM9	5	23526654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3857	23526654	157388606	5821	7967											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			152	688					1.56066e-67	1.97729e-67	1	1	0	T	24487856	G	T	24487856	3	4	22	1	0	0	0	0	1	0	0	0	3118	1020	36	2	87	2	CDH10	5	24487856	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	961202	24487856	156427404	5822	7968											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			56	354					0	0	1	0	0	A	24488103	G	A	24488103	3	1	22	1	0	0	0	0	1	0	0	0	3118	1319	46	2	334	2	CDH10	5	24488103	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	247	24488103	156427157	5823	7969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			61	264					0	0	1	0	0	G	24509737	T	G	24509737	3	3	22	1	0	0	0	0	1	0	0	0	3118	1606	56	3	1196	3	CDH10	5	24509737	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21634	24509737	156405523	5824	7970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			40	233					0	0	1	0	0	T	24535872	C	T	24535872	3	4	22	1	0	0	0	0	1	0	0	0	3118	768	27	1	1816	1	CDH10	5	24535872	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26135	24535872	156379388	5825	7971											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	390					0	0	1	0	0	T	26902639	C	T	26902639	3	4	22	1	0	0	0	0	1	0	0	0	3139	565	20	2	1194	2	CDH9	5	26902639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2366767	26902639	154012621	5826	7972											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													188	732					0	0	1	0	0	A	26903822	G	A	26903822	3	1	22	1	0	0	0	0	1	0	0	0	3139	971	34	2	1474	2	CDH9	5	26903822	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1183	26903822	154011438	5827	7973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	548					0	0	1	0	0	T	26915978	C	T	26915978	3	4	22	1	0	0	0	0	1	0	0	0	3139	913	32	2	2126	2	CDH9	5	26915978	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12156	26915978	153999282	5828	7974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	378					0	0	1	0	0	T	31297423	C	T	31297423	3	4	22	1	0	0	0	0	1	0	0	0	3136	536	19	1	561	1	CDH6	5	31297423	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4381445	31297423	149617837	5829	7975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	236					0	0	1	0	0	T	31316320	C	T	31316320	3	4	22	1	0	0	0	0	1	0	0	0	3136	855	30	2	1426	2	CDH6	5	31316320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18897	31316320	149598940	5830	7976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	546					0	0	1	0	0	A	32087337	G	A	32087337	2	1	22	1	0	0	0	0	0	0	0	1	11748	1190	42	2		2	PDZD2	5	32087337	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	771017	32087337	148827923	5831	7977											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	334					0	0	1	0	0	T	32088716	C	T	32088716	3	4	22	1	0	0	0	0	1	0	0	0	11748	652	23	1	5236	1	PDZD2	5	32088716	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1379	32088716	148826544	5832	7978											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	565					0	0	1	0	0	T	32126345	C	T	32126345	4	4	22	1	0	0	0	0	0	1	0	0	6607	624	22	2	30	2	GOLPH3	5	32126345	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37629	32126345	148788915	5833	7979											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													134	491					0	0	1	0	0	G	32126532	T	G	32126532	3	3	22	1	0	0	0	0	1	0	0	0	6607	1667	58	3	217	3	GOLPH3	5	32126532	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	187	32126532	148788728	5834	7980											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000280285.5_Missense_Mutation_p.K565T|MTMR12_ENST00000510216.1_5'UTR|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													103	525					0	0	1	0	0	G	32230272	T	G	32230272	3	3	22	1	0	0	0	0	1	0	0	0	9989	1609	56	3	391	3	MTMR12	5	32230272	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	103740	32230272	148684988	5835	7981											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	361					0	0	1	0	0	A	32387723	G	A	32387723	2	1	22	1	0	0	0	0	0	0	0	1	17717	962	34	2		2	ZFR	5	32387723	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157451	32387723	148527537	5836	7982											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415167.2_Silent_p.S148S|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron	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													99	516					0	0	1	0	0	A	32712326	G	A	32712326	2	1	22	1	0	0	0	0	0	0	0	1	10644	1074	38	1		1	NPR3	5	32712326	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	324603	32712326	148202934	5837	7983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415167.2_Missense_Mutation_p.E333D|NPR3_ENST00000434067.2_Missense_Mutation_p.E117D|NPR3_ENST00000415685.2_Missense_Mutation_p.E117D	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													11	431					3.07112e-06	3.16074e-06	1	1	0	T	32739076	G	T	32739076	3	4	22	1	0	0	0	0	1	0	0	0	10644	933	33	2	1009	2	NPR3	5	32739076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26750	32739076	148176184	5838	7984											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000455217.2_Missense_Mutation_p.R456Q|TARS_ENST00000414361.2_Missense_Mutation_p.R302Q	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													68	271					0	0	1	0	0	A	33461024	G	A	33461024	3	1	22	1	0	0	0	0	1	0	0	0	15616	1116	39	1	1314	1	TARS	5	33461024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	721948	33461024	147454236	5839	7985											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			85	835					0	0	1	0	0	G	33527365	A	G	33527365	2	3	22	1	0	0	0	0	0	0	0	1	256	273	10	3		3	ADAMTS12	5	33527365	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	66341	33527365	147387895	5840	7986											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			15	461					0	0	1	0	0	A	33527431	G	A	33527431	2	1	22	1	0	0	0	0	0	0	0	1	256	1195	42	2		2	ADAMTS12	5	33527431	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66	33527431	147387829	5841	7987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33614342C>T	ENST00000504830.1	-	16	2863		c.e16+1		ADAMTS12_ENST00000352040.3_Splice_Site|ADAMTS12_ENST00000504582.1_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)			18	107					0	0	1	0	0	T	33614342	C	T	33614342	5	4	22	1	0	0	0	0	0	0	1	0	256	521	18	2	2292	2	ADAMTS12	5	33614342	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86911	33614342	147300918	5842	7988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352040.3_Missense_Mutation_p.E706K|ADAMTS12_ENST00000504582.1_5'UTR	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)			92	485					0	0	1	0	0	T	33615950	C	T	33615950	3	4	22	1	0	0	0	0	1	0	0	0	256	835	29	2	2453	2	ADAMTS12	5	33615950	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1608	33615950	147299310	5843	7989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352040.3_Silent_p.S549S|ADAMTS12_ENST00000504582.1_5'UTR	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)			48	267					0	0	1	0	0	C	33641986	T	C	33641986	2	2	22	1	0	0	0	0	0	0	0	1	256	1683	59	3		3	ADAMTS12	5	33641986	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26036	33641986	147273274	5844	7990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352040.3_Silent_p.P416P|ADAMTS12_ENST00000504582.1_5'UTR	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)			50	298					0	0	1	0	0	T	33649745	C	T	33649745	2	4	22	1	0	0	0	0	0	0	0	1	256	523	19	1		1	ADAMTS12	5	33649745	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7759	33649745	147265515	5845	7991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	185					0	0	1	0	0	T	33937494	C	T	33937494	2	4	22	1	0	0	0	0	0	0	0	1	13813	796	28	2		2	RXFP3	5	33937494	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	287749	33937494	146977766	5846	7992											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	176					0	0	1	0	0	A	33938247	G	A	33938247	3	1	22	1	0	0	0	0	1	0	0	0	13813	1319	46	2	1404	2	RXFP3	5	33938247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	753	33938247	146977013	5847	7993											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_057264.3	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													32	168					0	0	1	0	0	T	33944779	C	T	33944779	3	4	22	1	0	0	0	0	1	0	0	0	14696	768	27	1	29	1	SLC45A2	5	33944779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6532	33944779	146970481	5848	7994											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382072.2_3'UTR|AMACR_ENST00000382085.3_Missense_Mutation_p.I353M|AMACR_ENST00000514195.1_5'UTR	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													63	311					0	0	1	0	0	C	33989288	T	C	33989288	3	2	22	1	0	0	0	0	1	0	0	0	558	1628	57	3	151	3	AMACR	5	33989288	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44509	33989288	146925972	5849	7995											
C1QTNF3	114899	broad.mit.edu	37	chr5	34033454	34033454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcccttctctcctttgggGccatgctgcccccgctcccc	8	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34033454G>A	ENST00000382065.3	-	3	1231	c.525C>T	c.(523-525)ggC>ggT	p.G175G	C1QTNF3_ENST00000231338.7_Silent_p.G102G	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	102	C1q.					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)					CTCCTTTGGGGCCATGCTGCC	0.577													60	310					0	0	1	0	0	A	34033454	G	A	34033454	2	1	22	1	0	0	0	0	0	0	0	1	1977	1190	42	2		2	C1QTNF3	5	34033454	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44166	34033454	146881806	5850	7996											
C1QTNF3	114899	broad.mit.edu	37	chr5	34033554	34033554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccattgttgccattgtttCcatggtttccttaaacaacc	5	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34033554C>T	ENST00000382065.3	-	3	1131	c.425G>A	c.(424-426)gGa>gAa	p.G142E	C1QTNF3_ENST00000231338.7_Missense_Mutation_p.G69E	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	69	C1q.					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)					GCCATTGTTTCCATGGTTTCC	0.483													73	412					0	0	1	0	0	T	34033554	C	T	34033554	3	4	22	1	0	0	0	0	1	0	0	0	1977	855	30	2	550	2	C1QTNF3	5	34033554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100	34033554	146881706	5851	7997											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512629.1_Missense_Mutation_p.R103S|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000503673.1_Missense_Mutation_p.R103S|RAI14_ENST00000515799.1_Missense_Mutation_p.R106S|RAI14_ENST00000506376.1_Missense_Mutation_p.R95S|RAI14_ENST00000428746.2_Missense_Mutation_p.R103S|RAI14_ENST00000397449.1_Missense_Mutation_p.R96S	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													17	72					4.35082e-09	4.56966e-09	1	1	0	T	34803869	G	T	34803869	3	4	22	1	0	0	0	0	1	0	0	0	13060	1165	41	2	388	2	RAI14	5	34803869	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	770315	34803869	146111391	5852	7998											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512629.1_Missense_Mutation_p.L426I|RAI14_ENST00000503673.1_Missense_Mutation_p.L455I|RAI14_ENST00000515799.1_Missense_Mutation_p.L458I|RAI14_ENST00000506376.1_Missense_Mutation_p.L447I|RAI14_ENST00000428746.2_Missense_Mutation_p.L455I|RAI14_ENST00000397449.1_Missense_Mutation_p.L448I	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													9	378					1.12685e-05	1.15515e-05	1	1	0	A	34823310	C	A	34823310	3	1	22	1	0	0	0	0	1	0	0	0	13060	796	28	2	1482	2	RAI14	5	34823310	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19441	34823310	146091950	5853	7999											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512629.1_Nonsense_Mutation_p.E819*|RAI14_ENST00000503673.1_Nonsense_Mutation_p.E848*|RAI14_ENST00000515799.1_Nonsense_Mutation_p.E851*|RAI14_ENST00000506376.1_Nonsense_Mutation_p.E840*|RAI14_ENST00000428746.2_Nonsense_Mutation_p.E848*|RAI14_ENST00000397449.1_Nonsense_Mutation_p.E841*	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													53	296					9.22156e-22	1.04059e-21	1	1	0	T	34824489	G	T	34824489	4	4	22	1	0	0	0	0	0	1	0	0	13060	943	33	2	2661	2	RAI14	5	34824489	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1179	34824489	146090771	5854	8000											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512136.1_Intron|DNAJC21_ENST00000303525.7_Intron|DNAJC21_ENST00000342382.4_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													12	92					0	0	1	0	0	A	34949740	G	A	34949740	2	1	22	1	0	0	0	0	0	0	0	1	4667	933	33	2		2	DNAJC21	5	34949740	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125251	34949740	145965520	5855	8001											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	230					0	0	1	0	0	T	35026586	C	T	35026586	3	4	22	1	0	0	0	0	1	0	0	0	402	835	29	2	773	2	AGXT2	5	35026586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76846	35026586	145888674	5856	8002											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.A446D|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.A446D	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													43	283					9.14704e-12	9.77761e-12	1	1	0	T	35065420	G	T	35065420	3	4	22	1	0	0	0	0	1	0	0	0	12583	1203	42	2	232	2	PRLR	5	35065420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38834	35065420	145849840	5857	8003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000342362.5_Silent_p.K435K|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000382002.5_Silent_p.K536K|PRLR_ENST00000511486.1_Silent_p.K435K	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													51	312					0	0	1	0	0	T	35065452	C	T	35065452	3	4	22	1	0	0	0	0	1	0	0	0	12583	796	28	2	264	2	PRLR	5	35065452	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32	35065452	145849808	5858	8004											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35068880C>T	ENST00000382002.5	-	8	1212		c.e8+1		PRLR_ENST00000231423.3_Splice_Site|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Splice_Site|PRLR_ENST00000513753.1_Splice_Site|PRLR_ENST00000342362.5_Splice_Site|PRLR_ENST00000542609.1_Splice_Site|PRLR_ENST00000509934.1_Intron|PRLR_ENST00000511486.1_Splice_Site	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													57	259					0	0	1	0	0	T	35068880	C	T	35068880	5	4	22	1	0	0	0	0	0	0	1	0	12583	521	18	2	1094	2	PRLR	5	35068880	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3428	35068880	145846380	5859	8005											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000231423.3_Silent_p.D128D|PRLR_ENST00000348262.3_Silent_p.D128D|PRLR_ENST00000397391.3_Silent_p.D57D|PRLR_ENST00000310101.5_Silent_p.D128D|PRLR_ENST00000513753.1_Silent_p.D128D|PRLR_ENST00000342362.5_Silent_p.D27D|PRLR_ENST00000542609.1_Silent_p.D128D|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000511486.1_Silent_p.D27D	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													63	305					0	0	1	0	0	A	35072836	G	A	35072836	2	1	22	1	0	0	0	0	0	0	0	1	12583	1252	44	2		2	PRLR	5	35072836	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3956	35072836	145842424	5860	8006											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	407					5.56898e-48	6.86499e-48	1	1	0	T	35691298	G	T	35691298	4	4	22	1	0	0	0	0	0	1	0	0	15091	1001	35	2	1747	2	SPEF2	5	35691298	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	618462	35691298	145223962	5861	8007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	242					0	0	1	0	0	G	35740046	A	G	35740046	3	3	22	1	0	0	0	0	1	0	0	0	15091	391	14	3	3196	3	SPEF2	5	35740046	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48748	35740046	145175214	5862	8008											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	508					0	0	1	0	0	T	35740347	C	T	35740347	3	4	22	1	0	0	0	0	1	0	0	0	15091	797	28	2	3419	2	SPEF2	5	35740347	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	301	35740347	145174913	5863	8009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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						55	230					9.72345e-25	1.11288e-24	1	1	0	A	35876421	C	A	35876421	3	1	22	1	0	0	0	0	1	0	0	0	7749	680	24	2	1243	2	IL7R	5	35876421	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136074	35876421	145038839	5864	8010											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000507113.1_Missense_Mutation_p.P319L|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.P353L	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													32	183					0	0	1	0	0	A	35957307	G	A	35957307	3	1	22	1	0	0	0	0	1	0	0	0	17023	1000	35	2	525	2	UGT3A1	5	35957307	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80886	35957307	144957953	5865	8011											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000507113.1_Missense_Mutation_p.D218E|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.D252E|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													77	388					0	0	1	0	0	C	35965575	A	C	35965575	3	2	22	1	0	0	0	0	1	0	0	0	17023	98	4	3	913	3	UGT3A1	5	35965575	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8268	35965575	144949685	5866	8012											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000507113.1_Missense_Mutation_p.R200M|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.R234M|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													84	406					9.34078e-37	1.11935e-36	1	1	0	A	35965630	C	A	35965630	3	1	22	1	0	0	0	0	1	0	0	0	17023	681	24	2	968	2	UGT3A1	5	35965630	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	35965630	144949630	5867	8013											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000507113.1_Missense_Mutation_p.A130T|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A164T|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													29	274					0	0	1	0	0	T	35965841	C	T	35965841	3	4	22	1	0	0	0	0	1	0	0	0	17023	739	26	2	1179	2	UGT3A1	5	35965841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211	35965841	144949419	5868	8014											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000507113.1_Missense_Mutation_p.K94N|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.K128N|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													41	231					4.17593e-13	4.50145e-13	1	1	0	A	35965947	C	A	35965947	3	1	22	1	0	0	0	0	1	0	0	0	17023	680	24	2	1285	2	UGT3A1	5	35965947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106	35965947	144949313	5869	8015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000507113.1_Intron|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.E48D|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													15	229					5.01169e-05	5.1097e-05	1	1	0	A	35988604	C	A	35988604	3	1	22	1	0	0	0	0	1	0	0	0	17023	796	28	2	1533	2	UGT3A1	5	35988604	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22657	35988604	144926656	5870	8016											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	392					0	0	1	0	0	T	36038073	C	T	36038073	3	4	22	1	0	0	0	0	1	0	0	0	17024	797	28	2	458	2	UGT3A2	5	36038073	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49469	36038073	144877187	5871	8017											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.R225Q|UGT3A2_ENST00000545528.1_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													89	394					0	0	1	0	0	T	36049058	C	T	36049058	3	4	22	1	0	0	0	0	1	0	0	0	17024	884	31	1	811	1	UGT3A2	5	36049058	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10985	36049058	144866202	5872	8018											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	94					0	0	1	0	0	C	36108727	A	C	36108727	2	2	22	1	0	0	0	0	0	0	0	1	8884	30	2	3		3	LMBRD2	5	36108727	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	59669	36108727	144806533	5873	8019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	282					0	0	1	0	0	A	36122989	G	A	36122989	2	1	22	1	0	0	0	0	0	0	0	1	8884	932	33	2		2	LMBRD2	5	36122989	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14262	36122989	144792271	5874	8020											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	228					0	0	1	0	0	T	36141208	C	T	36141208	5	4	22	1	0	0	0	0	0	0	1	0	8884	521	18	2	1778	2	LMBRD2	5	36141208	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18219	36141208	144774052	5875	8021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.R129H|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													6	235					0	0	1	0	0	A	36163852	G	A	36163852	3	1	22	1	0	0	0	0	1	0	0	0	14417	1087	38	1	396	1	SKP2	5	36163852	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22644	36163852	144751408	5876	8022											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Silent_p.E194E|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													260	1025					0	0	1	0	0	G	36168460	A	G	36168460	2	3	22	1	0	0	0	0	0	0	0	1	14417	69	3	3		3	SKP2	5	36168460	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4608	36168460	144746800	5877	8023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	428					7.92265e-33	9.37054e-33	1	1	0	A	36255604	C	A	36255604	3	1	22	1	0	0	0	0	1	0	0	0	13082	797	28	2	421	2	RANBP3L	5	36255604	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87144	36255604	144659656	5878	8024											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	387					0	0	1	0	0	T	36961636	C	T	36961636	3	4	22	1	0	0	0	0	1	0	0	0	10475	855	30	2	423	2	NIPBL	5	36961636	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	706032	36961636	143953624	5879	8025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	349					0	0	1	0	0	A	37000589	G	A	37000589	3	1	22	1	0	0	0	0	1	0	0	0	10475	1029	36	2	3461	2	NIPBL	5	37000589	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38953	37000589	143914671	5880	8026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	126					2.44723e-14	2.65813e-14	1	1	0	A	37000985	C	A	37000985	3	1	22	1	0	0	0	0	1	0	0	0	10475	681	24	2	3615	2	NIPBL	5	37000985	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	396	37000985	143914275	5881	8027											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	179					0	0	1	0	0	A	37020568	G	A	37020568	3	1	22	1	0	0	0	0	1	0	0	0	10475	1145	40	1	5116	1	NIPBL	5	37020568	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19583	37020568	143894692	5882	8028											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													218	886					0	0	1	0	0	A	37045656	G	A	37045656	3	1	22	1	0	0	0	0	1	0	0	0	10475	1116	39	1	6597	1	NIPBL	5	37045656	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25088	37045656	143869604	5883	8029											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	213					0	0	1	0	0	T	37051924	C	T	37051924	3	4	22	1	0	0	0	0	1	0	0	0	10475	797	28	2	7156	2	NIPBL	5	37051924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6268	37051924	143863336	5884	8030	45	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	231					0	0	1	0	0	T	37051929	C	T	37051929	3	4	22	1	0	0	0	0	1	0	0	0	10475	759	27	1	7161	1	NIPBL	5	37051929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	37051929	143863331	5885	8031	45	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	392					0	0	1	0	0	A	37059079	G	A	37059079	2	1	22	1	0	0	0	0	0	0	0	1	10475	1194	42	2		2	NIPBL	5	37059079	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7150	37059079	143856181	5886	8032											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37138820A>G	ENST00000274258.7	-	45	8912		c.e45+1		C5orf42_ENST00000512288.1_Splice_Site|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)			TTCAATGATTACCTGGAGGTG	0.308													33	441					0	0	1	0	0	G	37138820	A	G	37138820	5	3	22	1	0	0	0	0	0	0	1	0	2316	405	14	3	993	3	C5orf42	5	37138820	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	79741	37138820	143776440	5887	8033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	212					0	0	1	0	0	T	37181020	C	T	37181020	3	4	22	1	0	0	0	0	1	0	0	0	2316	797	28	2	4188	2	C5orf42	5	37181020	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42200	37181020	143734240	5888	8034											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	234					0	0	1	0	0	T	37187589	C	T	37187589	3	4	22	1	0	0	0	0	1	0	0	0	2316	652	23	1	5706	1	C5orf42	5	37187589	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6569	37187589	143727671	5889	8035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	133					0	0	1	0	0	T	37187945	C	T	37187945	5	4	22	1	0	0	0	0	0	0	1	0	2316	695	24	2	5906	2	C5orf42	5	37187945	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	356	37187945	143727315	5890	8036											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	356					2.93416e-43	3.58019e-43	1	1	0	T	37201716	G	T	37201716	3	4	22	1	0	0	0	0	1	0	0	0	2316	1174	41	2	6245	2	C5orf42	5	37201716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13771	37201716	143713544	5891	8037											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	220					0	0	1	0	0	T	37324155	C	T	37324155	3	4	22	1	0	0	0	0	1	0	0	0	10804	623	22	2	2093	2	NUP155	5	37324155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122439	37324155	143591105	5892	8038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	312					0	0	1	0	0	C	37331826	T	C	37331826	2	2	22	1	0	0	0	0	0	0	0	1	10804	1538	54	3		3	NUP155	5	37331826	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7671	37331826	143583434	5893	8039											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000510699.1_3'UTR|WDR70_ENST00000504564.1_Nonsense_Mutation_p.G241*	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													130	572					9.77321e-77	1.24726e-76	1	1	0	T	37479970	G	T	37479970	4	4	22	1	0	0	0	0	0	1	0	0	17381	1001	35	2	751	2	WDR70	5	37479970	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148144	37479970	143435290	5894	8040											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	283					0	0	1	0	0	T	37723012	C	T	37723012	2	4	22	1	0	0	0	0	0	0	0	1	17381	912	32	2		2	WDR70	5	37723012	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	243042	37723012	143192248	5895	8041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354891.3_Silent_p.L351L|EGFLAM_ENST00000336740.6_Silent_p.L117L|EGFLAM_ENST00000397202.2_Intron	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													14	341					2.61681e-11	2.78987e-11	1	1	0	A	38407154	C	A	38407154	2	1	22	1	0	0	0	0	0	0	0	1	4992	900	32	2		2	EGFLAM	5	38407154	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	684142	38407154	142508106	5896	8042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354891.3_Missense_Mutation_p.S446A|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S212A|EGFLAM_ENST00000397202.2_Intron	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													8	25					0	0	1	0	0	G	38409193	T	G	38409193	3	3	22	1	0	0	0	0	1	0	0	0	4992	1551	54	3	1388	3	EGFLAM	5	38409193	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2039	38409193	142506067	5897	8043											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354891.3_Missense_Mutation_p.D647V|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D413V|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D13V|EGFLAM-AS1_ENST00000508986.1_RNA	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													27	721					0	0	1	0	0	T	38427240	A	T	38427240	3	4	22	1	0	0	0	0	1	0	0	0	4992	333	12	5	2008	5	EGFLAM	5	38427240	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18047	38427240	142488020	5898	8044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								13	510					0	0	1	0	0	T	38482250	C	T	38482250	3	4	22	1	0	0	0	0	1	0	0	0	8820	884	31	1	556	1	LIFR	5	38482250	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55010	38482250	142433010	5899	8045											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								18	105					0	0	1	0	0	T	38484883	C	T	38484883	3	4	22	1	0	0	0	0	1	0	0	0	8820	884	31	1	720	1	LIFR	5	38484883	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2633	38484883	142430377	5900	8046											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								107	431					0	0	1	0	0	T	38493825	C	T	38493825	3	4	22	1	0	0	0	0	1	0	0	0	8820	884	31	1	1373	1	LIFR	5	38493825	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8942	38493825	142421435	5901	8047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								101	377					3.78979e-47	4.66216e-47	1	1	0	A	38496596	C	A	38496596	3	1	22	1	0	0	0	0	1	0	0	0	8820	796	28	2	1552	2	LIFR	5	38496596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2771	38496596	142418664	5902	8048											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								35	425					0	0	1	0	0	T	38530694	C	T	38530694	3	4	22	1	0	0	0	0	1	0	0	0	8820	913	32	2	3313	2	LIFR	5	38530694	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34098	38530694	142384566	5903	8049											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	265					0	0	1	0	0	A	38923316	T	A	38923316	2	1	22	1	0	0	0	0	0	0	0	1	11339	1596	56	5		5	OSMR	5	38923316	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	392622	38923316	141991944	5904	8050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	418					0	0	1	0	0	T	38925342	C	T	38925342	3	4	22	1	0	0	0	0	1	0	0	0	11339	652	23	1	2173	1	OSMR	5	38925342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2026	38925342	141989918	5905	8051											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	446					0	0	1	0	0	G	38933354	T	G	38933354	3	3	22	1	0	0	0	0	1	0	0	0	11339	1490	52	3	2852	3	OSMR	5	38933354	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8012	38933354	141981906	5906	8052											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	157					0	0	1	0	0	T	38942978	C	T	38942978	3	4	22	1	0	0	0	0	1	0	0	0	13408	652	23	1	125	1	RICTOR	5	38942978	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9624	38942978	141972282	5907	8053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	201					0	0	1	0	0	G	38947536	T	G	38947536	3	3	22	1	0	0	0	0	1	0	0	0	13408	1792	62	3	1010	3	RICTOR	5	38947536	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4558	38947536	141967724	5908	8054											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	324					0	0	1	0	0	T	38950004	C	T	38950004	3	4	22	1	0	0	0	0	1	0	0	0	13408	913	32	2	1212	2	RICTOR	5	38950004	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2468	38950004	141965256	5909	8055											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													236	955					0	0	1	0	0	A	38950285	G	A	38950285	3	1	22	1	0	0	0	0	1	0	0	0	13408	1377	48	2	1493	2	RICTOR	5	38950285	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	281	38950285	141964975	5910	8056											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	369					0	0	1	0	0	A	38953136	G	A	38953136	3	1	22	1	0	0	0	0	1	0	0	0	13408	1174	41	2	2318	2	RICTOR	5	38953136	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2851	38953136	141962124	5911	8057											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	509					0	0	1	0	0	C	39341328	A	C	39341328	3	2	22	1	0	0	0	0	1	0	0	0	2461	214	8	3	1315	3	C9	5	39341328	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	388192	39341328	141573932	5912	8058											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39381710G>A	ENST00000545653.1	-	10	1817	c.1287C>T	c.(1285-1287)gcC>gcT	p.A429A	DAB2_ENST00000509337.1_Silent_p.A429A|DAB2_ENST00000320816.6_Silent_p.A450A|DAB2_ENST00000339788.6_Silent_p.A232A	NM_001244871.1	NP_001231800.1	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													66	264					0	0	1	0	0	A	39381710	G	A	39381710	2	1	22	1	0	0	0	0	0	0	0	1	4242	1335	47	2		2	DAB2	5	39381710	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40382	39381710	141533550	5913	8059											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39382969C>T	ENST00000545653.1	-	9	1559	c.1029G>A	c.(1027-1029)tgG>tgA	p.W343*	DAB2_ENST00000509337.1_Nonsense_Mutation_p.W343*|DAB2_ENST00000320816.6_Nonsense_Mutation_p.W364*|DAB2_ENST00000339788.6_Intron	NM_001244871.1	NP_001231800.1	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													50	260					0	0	1	0	0	T	39382969	C	T	39382969	4	4	22	1	0	0	0	0	0	1	0	0	4242	740	26	2	1240	2	DAB2	5	39382969	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1259	39382969	141532291	5914	8060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39383090G>A	ENST00000545653.1	-	9	1438	c.908C>T	c.(907-909)tCg>tTg	p.S303L	DAB2_ENST00000509337.1_Missense_Mutation_p.S303L|DAB2_ENST00000320816.6_Missense_Mutation_p.S324L|DAB2_ENST00000339788.6_Intron	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	324				QPD -> HTR (in Ref. 8; AAA93195).	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													23	521					0	0	1	0	0	A	39383090	G	A	39383090	3	1	22	1	0	0	0	0	1	0	0	0	4242	1059	37	1	1361	1	DAB2	5	39383090	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121	39383090	141532170	5915	8061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	239					4.1673e-28	4.84001e-28	1	1	0	A	40681899	C	A	40681899	2	1	22	1	0	0	0	0	0	0	0	1	12795	845	30	2		2	PTGER4	5	40681899	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1298809	40681899	140233361	5916	8062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	156					1.024e-07	1.06599e-07	1	1	0	A	40716255	C	A	40716255	3	1	22	1	0	0	0	0	1	0	0	0	16764	797	28	2	11	2	TTC33	5	40716255	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34356	40716255	140199005	5917	8063											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354209.3_Missense_Mutation_p.A207V|PRKAA1_ENST00000296800.4_Missense_Mutation_p.A183V	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													18	464					0	0	1	0	0	A	40769539	G	A	40769539	3	1	22	1	0	0	0	0	1	0	0	0	12545	1319	46	2	1124	2	PRKAA1	5	40769539	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53284	40769539	140145721	5918	8064											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	204					0	0	1	0	0	A	40947834	G	A	40947834	3	1	22	1	0	0	0	0	1	0	0	0	2391	1029	36	2	899	2	C7	5	40947834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178295	40947834	139967426	5919	8065											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	582					0	0	1	0	0	A	40972682	G	A	40972682	3	1	22	1	0	0	0	0	1	0	0	0	2391	1087	38	1	2118	1	C7	5	40972682	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24848	40972682	139942578	5920	8066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													202	1053					1.31757e-72	1.67621e-72	1	1	0	T	41149377	G	T	41149377	2	4	22	1	0	0	0	0	0	0	0	1	2329	958	34	2		2	C6	5	41149377	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	176695	41149377	139765883	5921	8067											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													154	791					0	0	1	0	0	T	41149447	C	T	41149447	3	4	22	1	0	0	0	0	1	0	0	0	2329	739	26	2	293	2	C6	5	41149447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70	41149447	139765813	5922	8068											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	306					5.02053e-37	6.02234e-37	1	1	0	A	41160256	C	A	41160256	3	1	22	1	0	0	0	0	1	0	0	0	2329	913	32	2	1164	2	C6	5	41160256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10809	41160256	139755004	5923	8069											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.T363A	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													9	420					0	0	1	0	0	C	41176658	T	C	41176658	3	2	22	1	0	0	0	0	1	0	0	0	2329	1667	58	3	1761	3	C6	5	41176658	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16402	41176658	139738602	5924	8070											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475349.1_Intron|C6_ENST00000337836.5_Missense_Mutation_p.V239G	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													37	170					0	0	1	0	0	C	41186182	A	C	41186182	3	2	22	1	0	0	0	0	1	0	0	0	2329	275	10	3	2140	3	C6	5	41186182	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9524	41186182	139729078	5925	8071											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	327					3.76114e-14	4.07806e-14	1	1	0	T	41203349	G	T	41203349	1	4	22	1	0	0	0	0	0	0	0	0	2329	1015	35	2		2	C6	5	41203349	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17167	41203349	139711911	5926	8072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	342					0	0	1	0	0	A	41805740	G	A	41805740	3	1	22	1	0	0	0	0	1	0	0	0	11376	971	34	2	714	2	OXCT1	5	41805740	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	602391	41805740	139109520	5927	8073											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	498					0	0	1	0	0	A	41912217	G	A	41912217	3	1	22	1	0	0	0	0	1	0	0	0	2323	1058	37	1	551	1	C5orf51	5	41912217	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106477	41912217	139003043	5928	8074											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	409					0	0	1	0	0	T	41939678	C	T	41939678	3	4	22	1	0	0	0	0	1	0	0	0	5781	797	28	2	1082	2	FBXO4	5	41939678	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27461	41939678	138975582	5929	8075											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.F119L	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													33	145					2.09667e-21	2.36065e-21	1	1	0	A	42695175	C	A	42695175	3	1	22	1	0	0	0	0	1	0	0	0	6413	912	32	2	437	2	GHR	5	42695175	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	755497	42695175	138220085	5930	8076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Silent_p.I149I	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													52	259					0	0	1	0	0	T	42699999	C	T	42699999	2	4	22	1	0	0	0	0	0	0	0	1	6413	845	30	2		2	GHR	5	42699999	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4824	42699999	138215261	5931	8077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000511224.1_Silent_p.L347L|SEPP1_ENST00000507920.1_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													44	376					0	0	1	0	0	T	42800927	C	T	42800927	2	4	22	1	0	0	0	0	0	0	0	1	14111	709	25	2		2	SEPP1	5	42800927	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100928	42800927	138114333	5932	8078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000509276.1_5'UTR|SEPP1_ENST00000511224.1_Missense_Mutation_p.G6E|SEPP1_ENST00000507920.1_Missense_Mutation_p.G6E|SEPP1_ENST00000506577.1_Missense_Mutation_p.G6E	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													24	102					0	0	1	0	0	T	42808439	C	T	42808439	3	4	22	1	0	0	0	0	1	0	0	0	14111	623	22	2	1144	2	SEPP1	5	42808439	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7512	42808439	138106821	5933	8079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000505606.2_Missense_Mutation_p.S157L|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Missense_Mutation_p.S157L|ZNF131_ENST00000306938.4_Missense_Mutation_p.S157L|ZNF131_ENST00000399534.1_Missense_Mutation_p.S157L			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													92	370					0	0	1	0	0	T	43161449	C	T	43161449	3	4	22	1	0	0	0	0	1	0	0	0	17779	838	29	2	484	2	ZNF131	5	43161449	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	353010	43161449	137753811	5934	8080											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000505606.2_Missense_Mutation_p.D181G|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Missense_Mutation_p.D181G|ZNF131_ENST00000306938.4_Missense_Mutation_p.D181G|ZNF131_ENST00000399534.1_Missense_Mutation_p.D181G			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													73	310					0	0	1	0	0	G	43161521	A	G	43161521	3	3	22	1	0	0	0	0	1	0	0	0	17779	333	12	3	556	3	ZNF131	5	43161521	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	72	43161521	137753739	5935	8081											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512085.1_Missense_Mutation_p.R162C|C5orf28_ENST00000510130.1_Missense_Mutation_p.R60C|C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000397080.3_Missense_Mutation_p.R162C|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													63	378					0	0	1	0	0	A	43446488	G	A	43446488	3	1	22	1	0	0	0	0	1	0	0	0	2304	1058	37	1	167	1	C5orf28	5	43446488	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	284967	43446488	137468772	5936	8082											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000514514.1_Silent_p.T327T|PAIP1_ENST00000436644.2_Silent_p.T327T|PAIP1_ENST00000338972.4_Silent_p.T294T	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													97	448					0	0	1	0	0	C	43533874	T	C	43533874	2	2	22	1	0	0	0	0	0	0	0	1	11443	1451	51	3		3	PAIP1	5	43533874	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	87386	43533874	137381386	5937	8083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	248					0	0	1	0	0	A	43609350	G	A	43609350	3	1	22	1	0	0	0	0	1	0	0	0	10557	971	34	2	55	2	NNT	5	43609350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75476	43609350	137305910	5938	8084											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43651986G>T	ENST00000264663.5	+	13	2084	c.1863_splice	c.e13+1	p.Q621_splice	NNT_ENST00000512996.2_Splice_Site_p.Q490_splice|NNT_ENST00000344920.4_Splice_Site_p.Q621_splice	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													124	613					4.37601e-64	5.5278e-64	1	1	0	T	43651986	G	T	43651986	5	4	22	1	0	0	0	0	0	0	1	0	10557	1014	35	2	1909	2	NNT	5	43651986	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42636	43651986	137263274	5939	8085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	616					0	0	1	0	0	T	43659279	A	T	43659279	3	4	22	1	0	0	0	0	1	0	0	0	10557	275	10	5	2523	5	NNT	5	43659279	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7293	43659279	137255981	5940	8086											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	203					2.19358e-23	2.49351e-23	1	1	0	T	43702773	G	T	43702773	3	4	22	1	0	0	0	0	1	0	0	0	10557	971	34	2	3124	2	NNT	5	43702773	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43494	43702773	137212487	5941	8087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	178					0	0	1	0	0	T	44812023	C	T	44812023	3	4	22	1	0	0	0	0	1	0	0	0	9889	739	26	2	764	2	MRPS30	5	44812023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1109250	44812023	136103237	5942	8088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	279					0	0	1	0	0	A	45262687	G	A	45262687	3	1	22	1	0	0	0	0	1	0	0	0	7037	1087	38	1	667	1	HCN1	5	45262687	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	450664	45262687	135652573	5943	8089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	304					0	0	1	0	0	A	45262699	G	A	45262699	3	1	22	1	0	0	0	0	1	0	0	0	7037	1116	39	1	679	1	HCN1	5	45262699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12	45262699	135652561	5944	8090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	478					0	0	1	0	0	T	45303919	C	T	45303919	3	4	22	1	0	0	0	0	1	0	0	0	7037	652	23	1	1284	1	HCN1	5	45303919	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41220	45303919	135611341	5945	8091											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:50090042A>T	ENST00000281631.5	+	11	897	c.737_splice	c.e11-1	p.I247_splice	PARP8_ENST00000505697.2_Splice_Site_p.I247_splice|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Splice_Site_p.I247_splice|PARP8_ENST00000505554.1_Splice_Site_p.I226_splice|PARP8_ENST00000514067.2_Splice_Site_p.I247_splice|PARP8_ENST00000514342.2_5'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													54	205					0	0	1	0	0	T	50090042	A	T	50090042	5	4	22	1	0	0	0	0	0	0	1	0	11512	115	4	5	781	5	PARP8	5	50090042	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4786123	50090042	130825218	5946	8092											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000505697.2_Missense_Mutation_p.L444F|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.L444F|PARP8_ENST00000505554.1_Missense_Mutation_p.L423F|PARP8_ENST00000514067.2_Missense_Mutation_p.L444F|PARP8_ENST00000514342.2_Missense_Mutation_p.L197F	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													72	382					0	0	1	0	0	T	50091153	C	T	50091153	3	4	22	1	0	0	0	0	1	0	0	0	11512	797	28	2	1376	2	PARP8	5	50091153	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1111	50091153	130824107	5947	8093											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	205					0	0	1	0	0	A	52145208	G	A	52145208	3	1	22	1	0	0	0	0	1	0	0	0	7916	1087	38	1	77	1	ITGA1	5	52145208	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2054055	52145208	128770052	5948	8094											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	174					0	0	1	0	0	A	52160617	G	A	52160617	3	1	22	1	0	0	0	0	1	0	0	0	7916	1377	48	2	330	2	ITGA1	5	52160617	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15409	52160617	128754643	5949	8095											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	239					0	0	1	0	0	A	52214572	G	A	52214572	3	1	22	1	0	0	0	0	1	0	0	0	7916	1377	48	2	2061	2	ITGA1	5	52214572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53955	52214572	128700688	5950	8096											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	495					0	0	1	0	0	G	52218680	T	G	52218680	3	3	22	1	0	0	0	0	1	0	0	0	7916	1725	60	3	2436	3	ITGA1	5	52218680	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4108	52218680	128696580	5951	8097											
ITGA1	3672	broad.mit.edu	37	chr5	52221300	52221301	+	Frame_Shift_Ins	INS	-	-	T													gcattattctccaaatctagINSttttttcaggaattgaggta							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52221300_52221301insT	ENST00000282588.6	+	19	3054_3055	c.2596_2597insT	c.(2596-2598)tttfs	p.F866fs		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	866					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)				TCCAAATCTAGTTTTTTCAGGA	0.356													59	308	---	---	---	---						T	52221301	-	T	52221300	7	5	22	1	0	1	1	0	0	0	0	0	7916	1029	36	0	2670	0	ITGA1	5	52221300	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	2620	52221300	128693960	5952	8098											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	240					0	0	1	0	0	C	52229781	T	C	52229781	2	2	22	1	0	0	0	0	0	0	0	1	7916	1742	61	3		3	ITGA1	5	52229781	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8481	52229781	128685479	5953	8099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	422					2.6418e-55	3.30104e-55	1	1	0	A	52240794	C	A	52240794	3	1	22	1	0	0	0	0	1	0	0	0	7916	913	32	2	3413	2	ITGA1	5	52240794	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11013	52240794	128674466	5954	8100											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000582677.1_3'UTR|MOCS2_ENST00000508922.1_Intron|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000361377.4_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													54	277					0	0	1	0	0	G	52396257	A	G	52396257	3	3	22	1	0	0	0	0	1	0	0	0	9740	159	6	3	89	3	MOCS2	5	52396257	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	155463	52396257	128519003	5955	8101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	57	244					0	0	1	0	0	T	52778894	C	T	52778894	2	4	22	1	0	0	0	0	0	0	0	1	6111	668	24	2		2	FST	5	52778894	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	382637	52778894	128136366	5956	8102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	204					0	0	1	0	0	T	52779404	C	T	52779404	2	4	22	1	0	0	0	0	0	0	0	1	6111	776	27	1		1	FST	5	52779404	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	510	52779404	128135856	5957	8103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	214					0	0	1	0	0	G	53814741	A	G	53814741	3	3	22	1	0	0	0	0	1	0	0	0	14943	391	14	3	961	3	SNX18	5	53814741	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1035337	53814741	127100519	5958	8104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	247					5.10652e-33	6.04401e-33	1	1	0	T	53815541	G	T	53815541	3	4	22	1	0	0	0	0	1	0	0	0	14943	1261	44	2	1761	2	SNX18	5	53815541	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	800	53815541	127099719	5959	8105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_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													76	359					0	0	1	0	0	G	54327211	T	G	54327211	3	3	22	1	0	0	0	0	1	0	0	0	6959	1551	54	3	397	3	GZMK	5	54327211	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	511670	54327211	126588049	5960	8106											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54416252C>T	ENST00000334206.5	-	11	1604		c.e11+1		CDC20B_ENST00000296733.1_Splice_Site|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000381375.2_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													93	424					0	0	1	0	0	T	54416252	C	T	54416252	5	4	22	1	0	0	0	0	0	0	1	0	3082	521	18	2	229	2	CDC20B	5	54416252	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89041	54416252	126499008	5961	8107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000296733.1_Missense_Mutation_p.N48S|CDC20B_ENST00000331730.3_Missense_Mutation_p.N27S|CDC20B_ENST00000322374.6_Missense_Mutation_p.N48S|CDC20B_ENST00000381375.2_Missense_Mutation_p.N48S			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)	43	189					0	0	1	0	0	C	54442668	T	C	54442668	3	2	22	1	0	0	0	0	1	0	0	0	3082	1493	52	3	1456	3	CDC20B	5	54442668	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26416	54442668	126472592	5962	8108											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	306					6.4308e-24	7.32928e-24	1	1	0	T	54527253	G	T	54527253	3	4	22	1	0	0	0	0	1	0	0	0	2955	962	34	2	53	2	CCNO	5	54527253	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84585	54527253	126388007	5963	8109											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	312					0	0	1	0	0	A	54527267	G	A	54527267	3	1	22	1	0	0	0	0	1	0	0	0	2955	1174	41	2	67	2	CCNO	5	54527267	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14	54527267	126387993	5964	8110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	169					2.37825e-27	2.75276e-27	1	1	0	T	54674996	G	T	54674996	2	4	22	1	0	0	0	0	0	0	0	1	14415	1277	45	2		2	SKIV2L2	5	54674996	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	147729	54674996	126240264	5965	8111											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	356					0	0	1	0	0	G	54706447	T	G	54706447	3	3	22	1	0	0	0	0	1	0	0	0	14415	1841	64	3	2831	3	SKIV2L2	5	54706447	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31451	54706447	126208813	5966	8112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354991.5_Missense_Mutation_p.M82L|DDX4_ENST00000353507.5_Missense_Mutation_p.M82L|DDX4_ENST00000514278.2_Missense_Mutation_p.M82L|DDX4_ENST00000508580.1_3'UTR|SLC38A9_ENST00000504880.1_Intron	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													59	288					0	0	1	0	0	C	55059041	A	C	55059041	3	2	22	1	0	0	0	0	1	0	0	0	4383	101	4	3	258	3	DDX4	5	55059041	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	352594	55059041	125856219	5967	8113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354991.5_Missense_Mutation_p.G146D|DDX4_ENST00000353507.5_Missense_Mutation_p.G146D|DDX4_ENST00000514278.2_Missense_Mutation_p.G160D|DDX4_ENST00000511853.1_Missense_Mutation_p.G47D	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													70	339					0	0	1	0	0	A	55076936	G	A	55076936	3	1	22	1	0	0	0	0	1	0	0	0	4383	1203	42	2	610	2	DDX4	5	55076936	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17895	55076936	125838324	5968	8114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354991.5_Missense_Mutation_p.K493Q|DDX4_ENST00000353507.5_Missense_Mutation_p.K493Q|DDX4_ENST00000514278.2_Missense_Mutation_p.K507Q|DDX4_ENST00000511853.1_Missense_Mutation_p.K378Q	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													99	415					0	0	1	0	0	C	55094363	A	C	55094363	3	2	22	1	0	0	0	0	1	0	0	0	4383	15	1	3	1686	3	DDX4	5	55094363	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17427	55094363	125820897	5969	8115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354991.5_Missense_Mutation_p.V625L|DDX4_ENST00000353507.5_Missense_Mutation_p.V625L|DDX4_ENST00000514278.2_Missense_Mutation_p.V639L|DDX4_ENST00000511853.1_Missense_Mutation_p.V510L	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													110	532					1.07149e-41	1.30274e-41	1	1	0	T	55110988	G	T	55110988	3	4	22	1	0	0	0	0	1	0	0	0	4383	1029	36	2	2090	2	DDX4	5	55110988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16625	55110988	125804272	5970	8116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354961.4_Missense_Mutation_p.L415V|IL31RA_ENST00000359040.5_Missense_Mutation_p.L434V|IL31RA_ENST00000396836.2_Missense_Mutation_p.L434V|IL31RA_ENST00000447346.2_Missense_Mutation_p.L434V|IL31RA_ENST00000490985.1_Missense_Mutation_p.L292V|IL31RA_ENST00000297015.3_Missense_Mutation_p.L292V	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													10	250					0	0	1	0	0	G	55203234	T	G	55203234	3	3	22	1	0	0	0	0	1	0	0	0	7735	1722	60	3	1338	3	IL31RA	5	55203234	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	92246	55203234	125712026	5971	8117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381287.4_3'UTR|IL6ST_ENST00000502326.3_Silent_p.R811R|IL6ST_ENST00000536319.1_3'UTR|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000381294.3_Silent_p.R750R|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								128	538					0	0	1	0	0	T	55237234	C	T	55237234	2	4	22	1	0	0	0	0	0	0	0	1	7747	738	26	2		2	IL6ST	5	55237234	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34000	55237234	125678026	5972	8118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381287.4_3'UTR|IL6ST_ENST00000502326.3_Silent_p.F777F|IL6ST_ENST00000536319.1_3'UTR|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000381294.3_Silent_p.F716F|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								101	459					0	0	1	0	0	A	55237336	G	A	55237336	2	1	22	1	0	0	0	0	0	0	0	1	7747	933	33	2		2	IL6ST	5	55237336	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102	55237336	125677924	5973	8119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381293.2_Intron|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000502326.3_Missense_Mutation_p.K521R|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381294.3_Missense_Mutation_p.K460R|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								9	211					0	0	1	0	0	C	55247894	T	C	55247894	3	2	22	1	0	0	0	0	1	0	0	0	7747	1841	64	3	1214	3	IL6ST	5	55247894	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10558	55247894	125667366	5974	8120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000577363.1_5'UTR|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381287.4_Missense_Mutation_p.D171G|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000522633.2_Missense_Mutation_p.D171G|IL6ST_ENST00000396816.1_Missense_Mutation_p.I29V|IL6ST_ENST00000502326.3_Missense_Mutation_p.D171G|IL6ST_ENST00000536319.1_Missense_Mutation_p.D171G|IL6ST_ENST00000381294.3_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								38	179					0	0	1	0	0	C	55260120	T	C	55260120	3	2	22	1	0	0	0	0	1	0	0	0	7747	1435	50	3	2292	3	IL6ST	5	55260120	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12226	55260120	125655140	5975	8121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55264223C>A	ENST00000381298.2	-	5	684	c.370_splice	c.e5-1	p.L124_splice	IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381287.4_Splice_Site_p.L124_splice|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000522633.2_Splice_Site_p.L124_splice|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000502326.3_Splice_Site_p.L124_splice|IL6ST_ENST00000536319.1_Splice_Site_p.L124_splice|IL6ST_ENST00000381294.3_Splice_Site_p.L124_splice|IL6ST_ENST00000336909.5_Splice_Site_p.L124_splice	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								60	376					1.53716e-24	1.75837e-24	1	1	0	A	55264223	C	A	55264223	5	1	22	1	0	0	0	0	0	0	1	0	7747	724	25	2	2436	2	IL6ST	5	55264223	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4103	55264223	125651037	5976	8122											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	928					0	0	1	0	0	T	55407022	C	T	55407022	3	4	22	1	0	0	0	0	1	0	0	0	675	913	32	2	303	2	ANKRD55	5	55407022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142799	55407022	125508238	5977	8123											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	141					0	0	1	0	0	C	56155658	T	C	56155658	2	2	22	1	0	0	0	0	0	0	0	1	9293	1664	58	3		3	MAP3K1	5	56155658	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	748636	56155658	124759602	5978	8124											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	268					0.000274275	0.000278163	1	1	0	A	56171053	C	A	56171053	2	1	22	1	0	0	0	0	0	0	0	1	9293	903	32	2		2	MAP3K1	5	56171053	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15395	56171053	124744207	5979	8125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	216					1.08141e-31	1.27425e-31	1	1	0	T	56177726	G	T	56177726	3	4	22	1	0	0	0	0	1	0	0	0	9293	1029	36	2	2753	2	MAP3K1	5	56177726	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6673	56177726	124737534	5980	8126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	340					7.2861e-57	9.12103e-57	1	1	0	T	56177918	G	T	56177918	3	4	22	1	0	0	0	0	1	0	0	0	9293	1029	36	2	2945	2	MAP3K1	5	56177918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192	56177918	124737342	5981	8127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	420					0	0	1	0	0	C	56181885	T	C	56181885	3	2	22	1	0	0	0	0	1	0	0	0	9293	1667	58	3	4175	3	MAP3K1	5	56181885	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3967	56181885	124733375	5982	8128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-2310F14.1_ENST00000606813.1_RNA|MIER3_ENST00000381213.3_Missense_Mutation_p.L302F|MIER3_ENST00000409421.1_Missense_Mutation_p.L240F|MIER3_ENST00000381199.3_Missense_Mutation_p.L303F			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													45	225					0	0	1	0	0	A	56224611	G	A	56224611	3	1	22	1	0	0	0	0	1	0	0	0	9630	942	33	2	761	2	MIER3	5	56224611	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42726	56224611	124690649	5983	8129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	182					0	0	1	0	0	A	56778460	G	A	56778460	2	1	22	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	5984	8130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	199					0	0	1	0	0	A	57753328	G	A	57753328	2	1	22	1	0	0	0	0	0	0	0	1	12144	991	35	2		2	PLK2	5	57753328	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	974868	57753328	123161932	5985	8131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	223					0	0	1	0	0	A	57790515	G	A	57790515	3	1	22	1	0	0	0	0	1	0	0	0	6278	971	34	2	154	2	GAPT	5	57790515	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37187	57790515	123124745	5986	8132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)gtgggafs	p.VG789fs	PDE4D_ENST00000502484.2_Frame_Shift_Ins_p.VG728fs|PDE4D_ENST00000546160.1_Frame_Shift_Ins_p.VG728fs|PDE4D_ENST00000317118.8_Frame_Shift_Ins_p.VG498fs|PDE4D_ENST00000358923.6_Frame_Shift_Ins_p.VG487fs|PDE4D_ENST00000405755.2_Frame_Shift_Ins_p.VG667fs|PDE4D_ENST00000360047.5_Frame_Shift_Ins_p.VG653fs|PDE4D_ENST00000507116.1_Frame_Shift_Ins_p.VG725fs|PDE4D_ENST00000503258.1_Frame_Shift_Ins_p.VG659fs	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	789					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													243	1086	---	---	---	---						A	58270554	-	A	58270553	7	5	22	1	0	1	1	0	0	0	0	0	11689	681	24	0	65	0	PDE4D	5	58270553	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	480038	58270553	122644707	5987	8133											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000507116.1_Missense_Mutation_p.L384I|PDE4D_ENST00000317118.8_Missense_Mutation_p.L157I|PDE4D_ENST00000360047.5_Missense_Mutation_p.L312I|PDE4D_ENST00000405755.2_Missense_Mutation_p.L326I|PDE4D_ENST00000502484.2_Missense_Mutation_p.L387I|PDE4D_ENST00000546160.1_Missense_Mutation_p.L387I|PDE4D_ENST00000358923.6_Missense_Mutation_p.L146I|PDE4D_ENST00000503258.1_Missense_Mutation_p.L318I	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													16	204					0.000308642	0.000312942	1	1	0	T	58285692	G	T	58285692	3	4	22	1	0	0	0	0	1	0	0	0	11689	942	33	2	1111	2	PDE4D	5	58285692	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15139	58285692	122629568	5988	8134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000507116.1_Nonsense_Mutation_p.R123*|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000360047.5_Nonsense_Mutation_p.R51*|PDE4D_ENST00000405755.2_Nonsense_Mutation_p.R65*|PDE4D_ENST00000502575.1_Nonsense_Mutation_p.R123*|PDE4D_ENST00000502484.2_Nonsense_Mutation_p.R126*|PDE4D_ENST00000546160.1_Nonsense_Mutation_p.R126*|PDE4D_ENST00000503258.1_Nonsense_Mutation_p.R57*	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													57	264					0	0	1	0	0	A	58511691	G	A	58511691	4	1	22	1	0	0	0	0	0	1	0	0	11689	1153	40	1	1926	1	PDE4D	5	58511691	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	225999	58511691	122403569	5989	8135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000502484.2_Intron|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000340635.6_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													144	581					0	0	1	0	0	T	59064094	C	T	59064094	3	4	22	1	0	0	0	0	1	0	0	0	11689	551	19	1		1	PDE4D	5	59064094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	552403	59064094	121851166	5990	8136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	199					0	0	1	0	0	T	59940639	C	T	59940639	2	4	22	1	0	0	0	0	0	0	0	1	4468	871	31	1		1	DEPDC1B	5	59940639	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	876545	59940639	120974621	5991	8137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438340.1_Silent_p.A179A|ELOVL7_ENST00000425382.1_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													58	233					0	0	1	0	0	G	60053435	A	G	60053435	2	3	22	1	0	0	0	0	0	0	0	1	5107	175	7	3		3	ELOVL7	5	60053435	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112796	60053435	120861825	5992	8138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													208	1064					0	0	1	0	0	A	63256399	G	A	63256399	3	1	22	1	0	0	0	0	1	0	0	0	7480	1203	42	2	123	2	HTR1A	5	63256399	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3202964	63256399	117658861	5993	8139											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	463					0	0	1	0	0	A	63256774	G	A	63256774	3	1	22	1	0	0	0	0	1	0	0	0	7480	1059	37	1	498	1	HTR1A	5	63256774	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	375	63256774	117658486	5994	8140											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	340					0	0	1	0	0	T	64081400	C	T	64081400	2	4	22	1	0	0	0	0	0	0	0	1	4093	796	28	2		2	CWC27	5	64081400	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	824626	64081400	116833860	5995	8141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	255					0	0	1	0	0	A	64084809	G	A	64084809	3	1	22	1	0	0	0	0	1	0	0	0	4093	971	34	2	657	2	CWC27	5	64084809	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3409	64084809	116830451	5996	8142											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	329					1.15773e-35	1.38295e-35	1	1	0	T	64766794	G	T	64766794	2	4	22	1	0	0	0	0	0	0	0	1	269	987	35	2		2	ADAMTS6	5	64766794	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	681985	64766794	116148466	5997	8143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538977.1_Intron|PPWD1_ENST00000535264.1_Missense_Mutation_p.V62G	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													43	206					0	0	1	0	0	G	64863418	T	G	64863418	3	3	22	1	0	0	0	0	1	0	0	0	12463	1725	60	3	281	3	PPWD1	5	64863418	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96624	64863418	116051842	5998	8144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	1293					1.2644e-06	1.30616e-06	1	1	0	A	65084251	C	A	65084251	3	1	22	1	0	0	0	0	1	0	0	0	10514	565	20	2	1295	2	NLN	5	65084251	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	220833	65084251	115831009	5999	8145											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380938.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000511297.1_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													17	141					5.3912e-06	5.54037e-06	1	1	0	T	65324108	G	T	65324108	3	4	22	1	0	0	0	0	1	0	0	0	5235	933	33	2	1189	2	ERBB2IP	5	65324108	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	239857	65324108	115591152	6000	8146											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380938.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S1156R	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													61	227					0	0	1	0	0	C	65350624	A	C	65350624	3	2	22	1	0	0	0	0	1	0	0	0	5235	420	15	3	3552	3	ERBB2IP	5	65350624	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26516	65350624	115564636	6001	8147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65371060T>C	ENST00000284037.5	+	23	4352		c.e23+2		ERBB2IP_ENST00000380938.2_Splice_Site|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380939.2_Splice_Site|ERBB2IP_ENST00000506030.1_Splice_Site|ERBB2IP_ENST00000380936.1_Splice_Site|ERBB2IP_ENST00000380943.2_Splice_Site|ERBB2IP_ENST00000416865.2_Splice_Site|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000511297.1_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													91	371					0	0	1	0	0	C	65371060	T	C	65371060	5	2	22	1	0	0	0	0	0	0	1	0	5235	1652	57	3	3920	3	ERBB2IP	5	65371060	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20436	65371060	115544200	6002	8148											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000406374.1_Missense_Mutation_p.A182V|MAST4_ENST00000478569.1_3'UTR|MAST4_ENST00000403625.2_Missense_Mutation_p.A182V|MAST4_ENST00000406039.1_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													43	241					0	0	1	0	0	T	66084525	C	T	66084525	3	4	22	1	0	0	0	0	1	0	0	0	9377	768	27	1	555	1	MAST4	5	66084525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	713465	66084525	114830735	6003	8149											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000406374.1_Missense_Mutation_p.R197C|MAST4_ENST00000403625.2_Missense_Mutation_p.R197C|MAST4_ENST00000406039.1_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													33	187					0	0	1	0	0	T	66084569	C	T	66084569	3	4	22	1	0	0	0	0	1	0	0	0	9377	768	27	1	599	1	MAST4	5	66084569	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44	66084569	114830691	6004	8150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000403625.2_Missense_Mutation_p.P825L|MAST4_ENST00000405643.1_Missense_Mutation_p.P646L|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													8	47					0	0	1	0	0	T	66432472	C	T	66432472	3	4	22	1	0	0	0	0	1	0	0	0	9377	623	22	2	2678	2	MAST4	5	66432472	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	347903	66432472	114482788	6005	8151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000403625.2_Nonsense_Mutation_p.R1123*|MAST4_ENST00000405643.1_Nonsense_Mutation_p.R944*|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													128	624					0	0	1	0	0	T	66448536	C	T	66448536	4	4	22	1	0	0	0	0	0	1	0	0	9377	528	19	1	3595	1	MAST4	5	66448536	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16064	66448536	114466724	6006	8152											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000403625.2_Silent_p.S1612S|MAST4_ENST00000405643.1_Silent_p.S1433S|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													11	59					0	0	1	0	0	T	66459843	C	T	66459843	2	4	22	1	0	0	0	0	0	0	0	1	9377	767	27	1		1	MAST4	5	66459843	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11307	66459843	114455417	6007	8153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000403625.2_Silent_p.L1790L|MAST4_ENST00000405643.1_Silent_p.L1611L|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													87	428					0	0	1	0	0	T	66460375	C	T	66460375	2	4	22	1	0	0	0	0	0	0	0	1	9377	796	28	2		2	MAST4	5	66460375	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	532	66460375	114454885	6008	8154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000403625.2_Silent_p.P2083P|MAST4_ENST00000405643.1_Silent_p.P1904P|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													60	255					0	0	1	0	0	T	66461256	C	T	66461256	2	4	22	1	0	0	0	0	0	0	0	1	9377	639	23	1		1	MAST4	5	66461256	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	881	66461256	114454004	6009	8155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000403625.2_Missense_Mutation_p.R2210W|MAST4_ENST00000405643.1_Missense_Mutation_p.R2031W|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													18	98					0	0	1	0	0	T	66461635	C	T	66461635	3	4	22	1	0	0	0	0	1	0	0	0	9377	643	23	1	6872	1	MAST4	5	66461635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	379	66461635	114453625	6010	8156											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000403625.2_Missense_Mutation_p.P2310S|MAST4_ENST00000405643.1_Missense_Mutation_p.P2131S|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)	20	58					0	0	1	0	0	T	66461935	C	T	66461935	3	4	22	1	0	0	0	0	1	0	0	0	9377	623	22	2	7172	2	MAST4	5	66461935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	300	66461935	114453325	6011	8157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000403625.2_Missense_Mutation_p.R2609W|MAST4_ENST00000405643.1_Missense_Mutation_p.R2430W|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													12	109					0	0	1	0	0	T	66462832	C	T	66462832	3	4	22	1	0	0	0	0	1	0	0	0	9377	759	27	1	8069	1	MAST4	5	66462832	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	897	66462832	114452428	6012	8158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000274335.5_Missense_Mutation_p.P194S|PIK3R1_ENST00000521657.1_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)			104	456					0	0	1	0	0	T	67575507	C	T	67575507	3	4	22	1	0	0	0	0	1	0	0	0	11966	507	18	2	594	2	PIK3R1	5	67575507	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1112675	67575507	113339753	6013	8159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512880.1_5'UTR|MRPS36_ENST00000602380.1_5'UTR|MRPS36_ENST00000507022.1_3'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													43	229					6.45866e-13	6.95527e-13	1	1	0	T	68524042	G	T	68524042	3	4	22	1	0	0	0	0	1	0	0	0	9894	942	33	2	132	2	MRPS36	5	68524042	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	948535	68524042	112391218	6014	8160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512880.1_5'UTR|MRPS36_ENST00000602380.1_5'UTR|MRPS36_ENST00000507022.1_3'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													84	352					0	0	1	0	0	G	68524106	A	G	68524106	2	3	22	1	0	0	0	0	0	0	0	1	9894	175	7	3		3	MRPS36	5	68524106	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	64	68524106	112391154	6015	8161											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000514676.1_Nonsense_Mutation_p.Q283*|CDK7_ENST00000256443.3_Nonsense_Mutation_p.Q320*			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)					48	251					0	0	1	0	0	T	68572463	C	T	68572463	4	4	22	1	0	0	0	0	0	1	0	0	3171	711	25	2	1000	2	CDK7	5	68572463	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48357	68572463	112342797	6016	8162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	283					0	0	1	0	0	C	70785502	A	C	70785502	3	2	22	1	0	0	0	0	1	0	0	0	1393	40	2	3	1523	3	BDP1	5	70785502	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2213039	70785502	110129758	6017	8163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	301					0	0	1	0	0	T	70793140	C	T	70793140	3	4	22	1	0	0	0	0	1	0	0	0	1393	884	31	1	1893	1	BDP1	5	70793140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7638	70793140	110122120	6018	8164											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	420					0	0	1	0	0	G	70806004	A	G	70806004	3	3	22	1	0	0	0	0	1	0	0	0	1393	333	12	3	3151	3	BDP1	5	70806004	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12864	70806004	110109256	6019	8165											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	522					0	0	1	0	0	T	70939654	C	T	70939654	4	4	22	1	0	0	0	0	0	1	0	0	9425	876	31	1	1127	1	MCCC2	5	70939654	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133650	70939654	109975606	6020	8166											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	152					0	0	1	0	0	T	70948515	C	T	70948515	3	4	22	1	0	0	0	0	1	0	0	0	9425	768	27	1	1570	1	MCCC2	5	70948515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8861	70948515	109966745	6021	8167											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	335					0	0	1	0	0	A	71015722	G	A	71015722	3	1	22	1	0	0	0	0	1	0	0	0	2677	943	33	2	181	2	CARTPT	5	71015722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67207	71015722	109899538	6022	8168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	277					0	0	1	0	0	A	71490172	G	A	71490172	2	1	22	1	0	0	0	0	0	0	0	1	9278	962	34	2		2	MAP1B	5	71490172	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	474450	71490172	109425088	6023	8169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	390					0	0	1	0	0	A	71490541	G	A	71490541	2	1	22	1	0	0	0	0	0	0	0	1	9278	1306	46	2		2	MAP1B	5	71490541	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	369	71490541	109424719	6024	8170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													142	627					0	0	1	0	0	A	71491850	G	A	71491850	3	1	22	1	0	0	0	0	1	0	0	0	9278	1059	37	1	2686	1	MAP1B	5	71491850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1309	71491850	109423410	6025	8171											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	299					0	0	1	0	0	A	71492907	G	A	71492907	3	1	22	1	0	0	0	0	1	0	0	0	9278	971	34	2	3743	2	MAP1B	5	71492907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1057	71492907	109422353	6026	8172											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													119	576					3.19965e-69	4.05994e-69	1	1	0	T	71495341	G	T	71495341	3	4	22	1	0	0	0	0	1	0	0	0	9278	991	35	2	6177	2	MAP1B	5	71495341	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2434	71495341	109419919	6027	8173											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													148	651					0	0	1	0	0	A	71495820	G	A	71495820	3	1	22	1	0	0	0	0	1	0	0	0	9278	1087	38	1	6656	1	MAP1B	5	71495820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	479	71495820	109419440	6028	8174											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	742					0	0	1	0	0	T	71739689	C	T	71739689	3	4	22	1	0	0	0	0	1	0	0	0	17927	652	23	1	109	1	ZNF366	5	71739689	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	243869	71739689	109175571	6029	8175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	231					0	0	1	0	0	T	71756349	C	T	71756349	2	4	22	1	0	0	0	0	0	0	0	1	17927	796	28	2		2	ZNF366	5	71756349	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16660	71756349	109158911	6030	8176											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	553					0	0	1	0	0	A	72419582	G	A	72419582	3	1	22	1	0	0	0	0	1	0	0	0	16148	1145	40	1	384	1	TMEM171	5	72419582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	663233	72419582	108495678	6031	8177											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	1040					0	0	1	0	0	A	72469182	G	A	72469182	3	1	22	1	0	0	0	0	1	0	0	0	16150	1203	42	2	114	2	TMEM174	5	72469182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49600	72469182	108446078	6032	8178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:72875701G>T	ENST00000296792.4	+	13	1594		c.e13-1		UTP15_ENST00000508491.1_Splice_Site|UTP15_ENST00000543251.1_Splice_Site	NM_032175.2	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													30	159					9.65021e-13	1.03847e-12	1	1	0	T	72875701	G	T	72875701	5	4	22	1	0	0	0	0	0	0	1	0	17157	956	33	2	1385	2	UTP15	5	72875701	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	406519	72875701	108039559	6033	8179											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	418					0	0	1	0	0	C	73931214	T	C	73931214	3	2	22	1	0	0	0	0	1	0	0	0	5141	1551	54	3	676	3	ENC1	5	73931214	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1055513	73931214	106984046	6034	8180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	501					0	0	1	0	0	T	74009400	C	T	74009400	4	4	22	1	0	0	0	0	0	1	0	0	7115	528	19	1	867	1	HEXB	5	74009400	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78186	74009400	106905860	6035	8181											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515125.1_Intron|GFM2_ENST00000345239.2_Missense_Mutation_p.G511R|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													64	239					0	0	1	0	0	T	74026139	C	T	74026139	3	4	22	1	0	0	0	0	1	0	0	0	6384	652	23	1	687	1	GFM2	5	74026139	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16739	74026139	106889121	6036	8182											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	825					0	0	1	0	0	C	74047308	A	C	74047308	3	2	22	1	0	0	0	0	1	0	0	0	6384	214	8	3	2120	3	GFM2	5	74047308	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21169	74047308	106867952	6037	8183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000510496.1_Missense_Mutation_p.P327H|FAM169A_ENST00000380515.3_3'UTR	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													24	595					5.35356e-11	5.69577e-11	1	1	0	T	74091955	G	T	74091955	3	4	22	1	0	0	0	0	1	0	0	0	5517	1000	35	2	864	2	FAM169A	5	74091955	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44647	74091955	106823305	6038	8184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000511206.1_Missense_Mutation_p.R84C|HMGCR_ENST00000343975.5_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													50	275					0	0	1	0	0	T	74639762	C	T	74639762	3	4	22	1	0	0	0	0	1	0	0	0	7272	536	19	1	256	1	HMGCR	5	74639762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	547807	74639762	106275498	6039	8185											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000511206.1_Nonsense_Mutation_p.G803*|HMGCR_ENST00000343975.5_Nonsense_Mutation_p.G750*	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													11	247					1.58986e-06	1.64048e-06	1	1	0	T	74655331	G	T	74655331	4	4	22	1	0	0	0	0	0	1	0	0	7272	1001	35	2	2473	2	HMGCR	5	74655331	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15569	74655331	106259929	6040	8186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000261415.7_Silent_p.L548L|COL4A3BP_ENST00000508692.1_Intron|COL4A3BP_ENST00000405807.4_Silent_p.L574L	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													136	629					0	0	1	0	0	A	74676924	G	A	74676924	2	1	22	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	6041	8187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380481.3_Nonsense_Mutation_p.Q436*|POLK_ENST00000504026.1_Intron|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000352007.5_Nonsense_Mutation_p.Q328*|POLK_ENST00000508526.1_Nonsense_Mutation_p.Q328*	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)					7	218					0	0	1	0	0	T	74892094	C	T	74892094	4	4	22	1	0	0	0	0	0	1	0	0	12252	479	17	2	1622	2	POLK	5	74892094	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	215170	74892094	106023166	6042	8188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	467					0	0	1	0	0	T	75428010	C	T	75428010	2	4	22	1	0	0	0	0	0	0	0	1	15475	776	27	1		1	SV2C	5	75428010	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	535916	75428010	105487250	6043	8189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	356					0	0	1	0	0	G	75428107	A	G	75428107	3	3	22	1	0	0	0	0	1	0	0	0	15475	188	7	3	534	3	SV2C	5	75428107	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	97	75428107	105487153	6044	8190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	IQGAP2_ENST00000274364.6_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.M203I|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000502745.1_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													8	216					0	0	1	0	0	T	75913857	C	T	75913857	3	4	22	1	0	0	0	0	1	0	0	0	5373	710	25	2	453	2	F2RL2	5	75913857	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	485750	75913857	105001403	6045	8191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	IQGAP2_ENST00000274364.6_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.T17S|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000502745.1_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													99	445					0	0	1	0	0	A	75914417	T	A	75914417	3	1	22	1	0	0	0	0	1	0	0	0	5373	1667	58	5	1013	5	F2RL2	5	75914417	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	560	75914417	105000843	6046	8192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379730.3_Missense_Mutation_p.K190T|IQGAP2_ENST00000396234.3_Missense_Mutation_p.K184T|IQGAP2_ENST00000502745.1_Missense_Mutation_p.K184T	NM_006633.2	NP_006624.2	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													104	379					0	0	1	0	0	C	75932970	A	C	75932970	3	2	22	1	0	0	0	0	1	0	0	0	7859	14	1	3	1954	3	IQGAP2	5	75932970	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18553	75932970	104982290	6047	8193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379730.3_Silent_p.V470V|IQGAP2_ENST00000396234.3_Silent_p.V464V|IQGAP2_ENST00000502745.1_Silent_p.V464V	NM_006633.2	NP_006624.2	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													63	249					0	0	1	0	0	T	75967644	C	T	75967644	2	4	22	1	0	0	0	0	0	0	0	1	7859	871	31	1		1	IQGAP2	5	75967644	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34674	75967644	104947616	6048	8194											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379730.3_Silent_p.L743L|IQGAP2_ENST00000396234.3_Silent_p.L737L|IQGAP2_ENST00000502745.1_Silent_p.L737L	NM_006633.2	NP_006624.2	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													78	382					0	0	1	0	0	T	75979000	C	T	75979000	2	4	22	1	0	0	0	0	0	0	0	1	7859	796	28	2		2	IQGAP2	5	75979000	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11356	75979000	104936260	6049	8195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379730.3_Silent_p.F1074F|IQGAP2_ENST00000396234.3_Silent_p.F1068F|IQGAP2_ENST00000502745.1_Silent_p.F1068F|IQGAP2_ENST00000508410.1_3'UTR|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624.2	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													8	212					0	0	1	0	0	T	76003126	C	T	76003126	2	4	22	1	0	0	0	0	0	0	0	1	7859	912	32	2		2	IQGAP2	5	76003126	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24126	76003126	104912134	6050	8196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_005233.3	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													452	1974					0	0	1	0	0	A	76129450	G	A	76129450	3	1	22	1	0	0	0	0	1	0	0	0	5372	1058	37	1	1024	1	F2RL1	5	76129450	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126324	76129450	104785810	6051	8197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	318					0	0	1	0	0	A	76251590	G	A	76251590	3	1	22	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	6052	8198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503538.1_Intron|AGGF1_ENST00000506806.1_Missense_Mutation_p.A2T	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													6	60					0	0	1	0	0	A	76326595	G	A	76326595	3	1	22	1	0	0	0	0	1	0	0	0	379	1203	42	2	6	2	AGGF1	5	76326595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75005	76326595	104588665	6053	8199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000342343.4_Missense_Mutation_p.R389S|PDE8B_ENST00000333194.4_Missense_Mutation_p.R409S|PDE8B_ENST00000346042.3_Missense_Mutation_p.R312S|PDE8B_ENST00000340978.3_Missense_Mutation_p.R362S	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													41	201					0	0	1	0	0	C	76700561	A	C	76700561	3	2	22	1	0	0	0	0	1	0	0	0	11701	330	12	3	1273	3	PDE8B	5	76700561	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	373966	76700561	104214699	6054	8200											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000342343.4_Missense_Mutation_p.K711N|PDE8B_ENST00000333194.4_Missense_Mutation_p.K676N|PDE8B_ENST00000505283.1_Missense_Mutation_p.K196N|PDE8B_ENST00000346042.3_Missense_Mutation_p.K634N|PDE8B_ENST00000340978.3_Missense_Mutation_p.K684N	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													14	384					0	0	1	0	0	C	76715655	A	C	76715655	3	2	22	1	0	0	0	0	1	0	0	0	11701	40	2	3	2267	3	PDE8B	5	76715655	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15094	76715655	104199605	6055	8201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000507029.1_Missense_Mutation_p.R58I|WDR41_ENST00000414719.2_5'UTR	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													34	161					4.62619e-21	5.20214e-21	1	1	0	A	76758930	C	A	76758930	3	1	22	1	0	0	0	0	1	0	0	0	17354	913	32	2	1081	2	WDR41	5	76758930	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43275	76758930	104156330	6056	8202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	34					0	0	1	0	0	T	76926430	C	T	76926430	3	4	22	1	0	0	0	0	1	0	0	0	11357	768	27	1	344	1	OTP	5	76926430	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167500	76926430	103988830	6057	8203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	43					0	0	1	0	0	A	76933016	G	A	76933016	3	1	22	1	0	0	0	0	1	0	0	0	11357	1087	38	1	908	1	OTP	5	76933016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6586	76933016	103982244	6058	8204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518338.2_Intron|TBCA_ENST00000380377.4_Intron|TBCA_ENST00000517881.1_Intron|TBCA_ENST00000517679.1_Intron|TBCA_ENST00000522370.1_Intron|TBCA_ENST00000520361.1_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													14	66					0	0	1	0	0	A	76989061	T	A	76989061	3	1	22	1	0	0	0	0	1	0	0	0	15689	1508	52	5		5	TBCA	5	76989061	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	56045	76989061	103926199	6059	8205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				99	445					6.50375e-52	8.08219e-52	1	1	0	A	77311268	C	A	77311268	3	1	22	1	0	0	0	0	1	0	0	0	740	681	24	2	195	2	AP3B1	5	77311268	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	322207	77311268	103603992	6060	8206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				77	386					0	0	1	0	0	T	77423893	C	T	77423893	2	4	22	1	0	0	0	0	0	0	0	1	740	755	27	1		1	AP3B1	5	77423893	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112625	77423893	103491367	6061	8207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				75	371					2.72187e-29	3.17825e-29	1	1	0	A	77458776	C	A	77458776	5	1	22	1	0	0	0	0	0	0	1	0	740	927	32	2	2114	2	AP3B1	5	77458776	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34883	77458776	103456484	6062	8208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				9	312					0	0	1	0	0	G	77473166	T	G	77473166	3	3	22	1	0	0	0	0	1	0	0	0	740	1493	52	3	2323	3	AP3B1	5	77473166	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14390	77473166	103442094	6063	8209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	161					0	0	1	0	0	A	77805796	G	A	77805796	2	1	22	1	0	0	0	0	0	0	0	1	8805	962	34	2		2	LHFPL2	5	77805796	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	332630	77805796	103109464	6064	8210											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	234					0	0	1	0	0	T	78260339	C	T	78260339	3	4	22	1	0	0	0	0	1	0	0	0	987	884	31	1	1068	1	ARSB	5	78260339	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	454543	78260339	102654921	6065	8211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	536					6.25564e-26	7.19412e-26	1	1	0	A	78264847	C	A	78264847	4	1	22	1	0	0	0	0	0	1	0	0	987	690	24	2	1181	2	ARSB	5	78264847	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4508	78264847	102650413	6066	8212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380311.4_Missense_Mutation_p.S279F|DMGDH_ENST00000540686.1_Missense_Mutation_p.S100F	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													196	743					0	0	1	0	0	A	78328588	G	A	78328588	3	1	22	1	0	0	0	0	1	0	0	0	4609	942	33	2	1193	2	DMGDH	5	78328588	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63741	78328588	102586672	6067	8213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380311.4_Silent_p.G169G|DMGDH_ENST00000540686.1_Intron	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													60	293					0	0	1	0	0	T	78338189	A	T	78338189	2	4	22	1	0	0	0	0	0	0	0	1	4609	262	10	5		5	DMGDH	5	78338189	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9601	78338189	102577071	6068	8214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380311.4_Missense_Mutation_p.E102K|DMGDH_ENST00000540686.1_Intron	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													99	399					0	0	1	0	0	T	78340214	C	T	78340214	3	4	22	1	0	0	0	0	1	0	0	0	4609	864	30	2	1737	2	DMGDH	5	78340214	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2025	78340214	102575046	6069	8215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_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													31	152					0	0	1	0	0	A	78351653	G	A	78351653	2	1	22	1	0	0	0	0	0	0	0	1	4609	1020	36	2		2	DMGDH	5	78351653	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11439	78351653	102563607	6070	8216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_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													121	526					1.6185e-62	2.03999e-62	1	1	0	T	78376548	G	T	78376548	3	4	22	1	0	0	0	0	1	0	0	0	1425	1223	43	2	311	2	BHMT2	5	78376548	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24895	78376548	102538712	6071	8217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	BHMT_ENST00000524080.1_Intron|DMGDH_ENST00000520388.1_5'UTR	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													37	149					0	0	1	0	0	A	78416175	G	A	78416175	2	1	22	1	0	0	0	0	0	0	0	1	1424	1190	42	2		2	BHMT	5	78416175	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39627	78416175	102499085	6072	8218											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	168					1.00221e-16	1.10252e-16	1	1	0	T	78611996	G	T	78611996	4	4	22	1	0	0	0	0	0	1	0	0	8001	943	33	2	2871	2	JMY	5	78611996	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	195821	78611996	102303264	6073	8219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508576.1_Intron|HOMER1_ENST00000535690.1_Missense_Mutation_p.K97Q	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													25	97					0	0	1	0	0	G	78692711	T	G	78692711	3	3	22	1	0	0	0	0	1	0	0	0	7319	1850	64	3	261	3	HOMER1	5	78692711	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	80715	78692711	102222549	6074	8220											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	468					0	0	1	0	0	A	79026176	G	A	79026176	3	1	22	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	333465	79026176	101889084	6075	8221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	311					0	0	1	0	0	G	79026860	A	G	79026860	3	3	22	1	0	0	0	0	1	0	0	0	3613	159	6	3	2278	3	CMYA5	5	79026860	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	684	79026860	101888400	6076	8222											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	405					4.73232e-52	5.88258e-52	1	1	0	T	79029439	G	T	79029439	3	4	22	1	0	0	0	0	1	0	0	0	3613	962	34	2	4857	2	CMYA5	5	79029439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2579	79029439	101885821	6077	8223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	237					0	0	1	0	0	C	79030920	A	C	79030920	3	2	22	1	0	0	0	0	1	0	0	0	3613	72	3	3	6338	3	CMYA5	5	79030920	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1481	79030920	101884340	6078	8224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													124	496					0	0	1	0	0	A	79031203	G	A	79031203	2	1	22	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	6079	8225											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	146					0	0	1	0	0	G	79032156	A	G	79032156	3	3	22	1	0	0	0	0	1	0	0	0	3613	391	14	3	7574	3	CMYA5	5	79032156	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	953	79032156	101883104	6080	8226											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	210					1.59361e-14	1.73214e-14	1	1	0	A	79034343	C	A	79034343	3	1	22	1	0	0	0	0	1	0	0	0	3613	913	32	2	9761	2	CMYA5	5	79034343	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2187	79034343	101880917	6081	8227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	351					0	0	1	0	0	T	79034527	C	T	79034527	2	4	22	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	6082	8228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.V634I	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													18	100					0	0	1	0	0	A	79373958	G	A	79373958	3	1	22	1	0	0	0	0	1	0	0	0	15916	1261	44	2	2239	2	THBS4	5	79373958	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	339431	79373958	101541302	6083	8229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	413					0	0	1	0	0	A	79616966	G	A	79616966	3	1	22	1	0	0	0	0	1	0	0	0	15183	971	34	2	934	2	SPZ1	5	79616966	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	243008	79616966	101298294	6084	8230											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000505560.1_Missense_Mutation_p.S72I|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S72I	NM_014733.3	NP_055548.3	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													71	315					1.55545e-33	1.84439e-33	1	1	0	T	79732719	G	T	79732719	3	4	22	1	0	0	0	0	1	0	0	0	17722	971	34	2	221	2	ZFYVE16	5	79732719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115753	79732719	101182541	6085	8231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000505560.1_Missense_Mutation_p.D350Y|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.D350Y	NM_014733.3	NP_055548.3	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													89	322					1.42074e-37	1.70676e-37	1	1	0	T	79733552	G	T	79733552	3	4	22	1	0	0	0	0	1	0	0	0	17722	942	33	2	1054	2	ZFYVE16	5	79733552	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	833	79733552	101181708	6086	8232											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000505560.1_Missense_Mutation_p.P834L|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.P834L	NM_014733.3	NP_055548.3	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													39	296					0	0	1	0	0	T	79739023	C	T	79739023	3	4	22	1	0	0	0	0	1	0	0	0	17722	681	24	2	2515	2	ZFYVE16	5	79739023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5471	79739023	101176237	6087	8233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000505560.1_Nonsense_Mutation_p.E922*|ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.E922*	NM_014733.3	NP_055548.3	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													55	244					1.0442e-30	1.22599e-30	1	1	0	T	79743884	G	T	79743884	4	4	22	1	0	0	0	0	0	1	0	0	17722	1175	41	2	2786	2	ZFYVE16	5	79743884	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4861	79743884	101171376	6088	8234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000505560.1_Silent_p.I995I|ZFYVE16_ENST00000510158.1_Silent_p.I995I	NM_014733.3	NP_055548.3	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													45	214					0	0	1	0	0	C	79744105	T	C	79744105	2	2	22	1	0	0	0	0	0	0	0	1	17722	1829	64	3		3	ZFYVE16	5	79744105	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	221	79744105	101171155	6089	8235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	191					7.90463e-13	8.50842e-13	1	1	0	A	79837528	C	A	79837528	3	1	22	1	0	0	0	0	1	0	0	0	5489	564	20	2	730	2	FAM151B	5	79837528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93423	79837528	101077732	6090	8236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504396.1_Silent_p.G123G|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000505337.1_Silent_p.G175G|DHFR_ENST00000511032.1_3'UTR	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													29	100					0	0	1	0	0	A	79924945	G	A	79924945	2	1	22	1	0	0	0	0	0	0	0	1	4509	1306	46	2		2	DHFR	5	79924945	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87417	79924945	100990315	6091	8237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504396.1_Nonsense_Mutation_p.R14*|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000505337.1_Nonsense_Mutation_p.R66*|DHFR_ENST00000511032.1_Nonsense_Mutation_p.R66*	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													61	270					0	0	1	0	0	A	79945254	G	A	79945254	4	1	22	1	0	0	0	0	0	1	0	0	4509	1066	37	1	383	1	DHFR	5	79945254	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20309	79945254	100970006	6092	8238											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					50	198					0	0	1	0	0	T	80064769	C	T	80064769	4	4	22	1	0	0	0	0	0	1	0	0	9920	528	19	1	2258	1	MSH3	5	80064769	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119515	80064769	100850491	6093	8239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					94	363					2.18907e-53	2.72816e-53	1	1	0	T	80150042	G	T	80150042	3	4	22	1	0	0	0	0	1	0	0	0	9920	1020	36	2	2989	2	MSH3	5	80150042	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85273	80150042	100765218	6094	8240											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	229					0	0	1	0	0	G	80404827	A	G	80404827	3	3	22	1	0	0	0	0	1	0	0	0	13125	449	16	3	1818	3	RASGRF2	5	80404827	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	254785	80404827	100510433	6095	8241											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CKMT2_ENST00000437669.1_Silent_p.S170S|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CKMT2_ENST00000254035.4_Silent_p.S170S	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													68	299					0	0	1	0	0	T	80550874	C	T	80550874	2	4	22	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	6096	8242											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.K419N|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.K419N	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													91	446					1.59228e-47	1.96063e-47	1	1	0	T	80562074	G	T	80562074	3	4	22	1	0	0	0	0	1	0	0	0	3474	1020	36	2	1291	2	CKMT2	5	80562074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11200	80562074	100353186	6097	8243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	239					0	0	1	0	0	A	80655779	G	A	80655779	4	1	22	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	93705	80655779	100259481	6098	8244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515395.1_Missense_Mutation_p.P184H|SSBP2_ENST00000509053.1_Missense_Mutation_p.P176H|SSBP2_ENST00000505980.1_Missense_Mutation_p.P186H|SSBP2_ENST00000514493.1_Missense_Mutation_p.P176H	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													67	288					2.0493e-37	2.46103e-37	1	1	0	T	80762814	G	T	80762814	3	4	22	1	0	0	0	0	1	0	0	0	15236	1000	35	2	504	2	SSBP2	5	80762814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107035	80762814	100152446	6099	8245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508366.1_3'UTR|ATP6AP1L_ENST00000439350.1_Silent_p.L53L			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)	143	626					0	0	1	0	0	C	81608455	T	C	81608455	2	2	22	1	0	0	0	0	0	0	0	1	1164	1722	60	3		3	ATP6AP1L	5	81608455	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	845641	81608455	99306805	6100	8246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Silent_p.C141C			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													57	273					0	0	1	0	0	T	81613867	C	T	81613867	2	4	22	1	0	0	0	0	0	0	0	1	1164	776	27	1		1	ATP6AP1L	5	81613867	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5412	81613867	99301393	6101	8247											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512590.2_5'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.S7I|VCAN_ENST00000342785.4_Missense_Mutation_p.S7I|VCAN_ENST00000513984.1_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													34	180					3.76114e-14	4.07806e-14	1	1	0	T	82779357	G	T	82779357	3	4	22	1	0	0	0	0	1	0	0	0	17198	971	34	2	22	2	VCAN	5	82779357	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1165490	82779357	98135903	6102	8248											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512590.2_Missense_Mutation_p.R81H|VCAN_ENST00000343200.5_Missense_Mutation_p.R129H|VCAN_ENST00000342785.4_Missense_Mutation_p.R129H|VCAN_ENST00000513984.1_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													103	388					0	0	1	0	0	A	82786232	G	A	82786232	3	1	22	1	0	0	0	0	1	0	0	0	17198	1087	38	1	392	1	VCAN	5	82786232	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6875	82786232	98129028	6103	8249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512590.2_Missense_Mutation_p.R185H|VCAN_ENST00000343200.5_Missense_Mutation_p.R233H|VCAN_ENST00000342785.4_Missense_Mutation_p.R233H|VCAN_ENST00000513984.1_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													121	489					0	0	1	0	0	A	82789700	G	A	82789700	3	1	22	1	0	0	0	0	1	0	0	0	17198	1145	40	1	712	1	VCAN	5	82789700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3468	82789700	98125560	6104	8250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512590.2_Missense_Mutation_p.D1167N|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.D1215N|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													12	619					0	0	1	0	0	A	82817768	G	A	82817768	3	1	22	1	0	0	0	0	1	0	0	0	17198	942	33	2	3665	2	VCAN	5	82817768	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28068	82817768	98097492	6105	8251											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.A975T|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|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													12	356					0	0	1	0	0	A	82834706	G	A	82834706	3	1	22	1	0	0	0	0	1	0	0	0	17198	1319	46	2	5910	2	VCAN	5	82834706	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16938	82834706	98080554	6106	8252											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.P1210T|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|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													86	478					8.45761e-33	1.00019e-32	1	1	0	A	82835411	C	A	82835411	3	1	22	1	0	0	0	0	1	0	0	0	17198	623	22	2	6615	2	VCAN	5	82835411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	705	82835411	98079849	6107	8253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.I1795V|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|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													75	354					0	0	1	0	0	G	82837166	A	G	82837166	3	3	22	1	0	0	0	0	1	0	0	0	17198	449	16	3	8370	3	VCAN	5	82837166	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1755	82837166	98078094	6108	8254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													148	748					0	0	1	0	0	A	82937350	G	A	82937350	2	1	22	1	0	0	0	0	0	0	0	1	6995	962	34	2		2	HAPLN1	5	82937350	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100184	82937350	97977910	6109	8255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	182					0	0	1	0	0	A	83362285	G	A	83362285	2	1	22	1	0	0	0	0	0	0	0	1	4941	1306	46	2		2	EDIL3	5	83362285	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	424935	83362285	97552975	6110	8256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	226					9.57634e-11	1.01752e-10	1	1	0	A	83549944	C	A	83549944	3	1	22	1	0	0	0	0	1	0	0	0	4941	913	32	2	1328	2	EDIL3	5	83549944	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187659	83549944	97365316	6111	8257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515763.1_Missense_Mutation_p.F53V|COX7C_ENST00000513124.1_3'UTR|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													102	520					0	0	1	0	0	G	85915251	T	G	85915251	3	3	22	1	0	0	0	0	1	0	0	0	3807	1609	56	3	163	3	COX7C	5	85915251	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2365307	85915251	95000009	6112	8258											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RASA1_ENST00000512763.1_Missense_Mutation_p.S538P|CTC-428H11.2_ENST00000607486.1_RNA|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													66	247					0	0	1	0	0	C	86672311	T	C	86672311	3	2	22	1	0	0	0	0	1	0	0	0	13112	1667	58	3	2187	3	RASA1	5	86672311	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	757060	86672311	94242949	6113	8259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000506536.1_Silent_p.I90I|TMEM161B_ENST00000512429.1_Silent_p.I261I|TMEM161B_ENST00000511218.1_Silent_p.I90I|TMEM161B_ENST00000509387.1_Silent_p.I145I|TMEM161B_ENST00000514135.1_Silent_p.I272I	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													61	309					0	0	1	0	0	A	87498877	G	A	87498877	2	1	22	1	0	0	0	0	0	0	0	1	16137	1280	45	2		2	TMEM161B	5	87498877	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	826566	87498877	93416383	6114	8260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_981951.1	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													8	64					0.00307968	0.00310409	1	1	0	T	89769706	G	T	89769706	3	4	22	1	0	0	0	0	1	0	0	0	9402	1203	42	2	443	2	MBLAC2	5	89769706	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2270829	89769706	91145554	6115	8261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_981951.1	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													10	49					0	0	1	0	0	T	89770000	C	T	89770000	3	4	22	1	0	0	0	0	1	0	0	0	9402	739	26	2	737	2	MBLAC2	5	89770000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	294	89770000	91145260	6116	8262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	464					0	0	1	0	0	G	89924519	A	G	89924519	3	3	22	1	0	0	0	0	1	0	0	0	6762	130	5	3	1409	3	GPR98	5	89924519	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	154519	89924519	90990741	6117	8263											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	168					0	0	1	0	0	C	89925335	T	C	89925335	2	2	22	1	0	0	0	0	0	0	0	1	6762	1461	51	3		3	GPR98	5	89925335	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	816	89925335	90989925	6118	8264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	645					0	0	1	0	0	A	89938474	G	A	89938474	2	1	22	1	0	0	0	0	0	0	0	1	6762	1306	46	2		2	GPR98	5	89938474	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13139	89938474	90976786	6119	8265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	116					5.9392e-07	6.14895e-07	1	1	0	T	89939798	G	T	89939798	3	4	22	1	0	0	0	0	1	0	0	0	6762	1029	36	2	2786	2	GPR98	5	89939798	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1324	89939798	90975462	6120	8266											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	179					0	0	1	0	0	G	90020790	T	G	90020790	3	3	22	1	0	0	0	0	1	0	0	0	6762	1493	52	3	10072	3	GPR98	5	90020790	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	80992	90020790	90894470	6121	8267											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	178					0	0	1	0	0	T	90041501	C	T	90041501	2	4	22	1	0	0	0	0	0	0	0	1	6762	825	29	2		2	GPR98	5	90041501	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20711	90041501	90873759	6122	8268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	319					0	0	1	0	0	T	90050900	C	T	90050900	2	4	22	1	0	0	0	0	0	0	0	1	6762	871	31	1		1	GPR98	5	90050900	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9399	90050900	90864360	6123	8269											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	320					0	0	1	0	0	T	90106690	C	T	90106690	3	4	22	1	0	0	0	0	1	0	0	0	6762	739	26	2	15907	2	GPR98	5	90106690	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55790	90106690	90808570	6124	8270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	205					0	0	1	0	0	G	90144584	A	G	90144584	3	3	22	1	0	0	0	0	1	0	0	0	6762	304	11	3	17464	3	GPR98	5	90144584	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	37894	90144584	90770676	6125	8271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	372					1.42536e-29	1.66628e-29	1	1	0	A	92923924	C	A	92923924	2	1	22	1	0	0	0	0	0	0	0	1	10675	668	24	2		2	NR2F1	5	92923924	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2779340	92923924	87991336	6126	8272											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000509163.1_Intron	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													19	85					0	0	1	0	0	A	93076496	G	A	93076496	2	1	22	1	0	0	0	0	0	0	0	1	12328	933	33	2		2	POU5F2	5	93076496	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152572	93076496	87838764	6127	8273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	222					0	0	1	0	0	A	94619986	G	A	94619986	2	1	22	1	0	0	0	0	0	0	0	1	9450	1252	44	2		2	MCTP1	5	94619986	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1543490	94619986	86295274	6128	8274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	316					2.73361e-28	3.17826e-28	1	1	0	A	94814107	C	A	94814107	3	1	22	1	0	0	0	0	1	0	0	0	16767	797	28	2	458	2	TTC37	5	94814107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	194121	94814107	86101153	6129	8275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	593					0	0	1	0	0	G	94818235	A	G	94818235	3	3	22	1	0	0	0	0	1	0	0	0	16767	391	14	3	560	3	TTC37	5	94818235	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4128	94818235	86097025	6130	8276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	203					0	0	1	0	0	T	94877557	C	T	94877557	2	4	22	1	0	0	0	0	0	0	0	1	16767	709	25	2		2	TTC37	5	94877557	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59322	94877557	86037703	6131	8277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	98					0	0	1	0	0	G	94901721	A	G	94901721	3	3	22	1	0	0	0	0	1	0	0	0	995	217	8	3	152	3	ARSK	5	94901721	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24164	94901721	86013539	6132	8278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Missense_Mutation_p.A73T	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													47	252					0	0	1	0	0	T	95011277	C	T	95011277	3	4	22	1	0	0	0	0	1	0	0	0	15072	797	28	2	559	2	SPATA9	5	95011277	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109556	95011277	85903983	6133	8279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	277					0	0	1	0	0	T	95072759	C	T	95072759	3	4	22	1	0	0	0	0	1	0	0	0	13385	797	28	2	405	2	RHOBTB3	5	95072759	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61482	95072759	85842501	6134	8280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	419					0	0	1	0	0	C	95091253	A	C	95091253	3	2	22	1	0	0	0	0	1	0	0	0	13385	217	8	3	858	3	RHOBTB3	5	95091253	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18494	95091253	85824007	6135	8281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													256	1074					0	0	1	0	0	A	95728750	G	A	95728750	2	1	22	1	0	0	0	0	0	0	0	1	11647	1252	44	2		2	PCSK1	5	95728750	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	637497	95728750	85186510	6136	8282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													167	904					2.7625e-60	3.47358e-60	1	1	0	A	95746599	C	A	95746599	3	1	22	1	0	0	0	0	1	0	0	0	11647	797	28	2	1315	2	PCSK1	5	95746599	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17849	95746599	85168661	6137	8283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	216					0	0	1	0	0	G	95761565	T	G	95761565	3	3	22	1	0	0	0	0	1	0	0	0	11647	1841	64	3	1954	3	PCSK1	5	95761565	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14966	95761565	85153695	6138	8284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000309190.5_Missense_Mutation_p.K684N|CAST_ENST00000508830.1_Missense_Mutation_p.K789N|CAST_ENST00000511049.1_Missense_Mutation_p.K691N|CAST_ENST00000509903.1_Missense_Mutation_p.K671N|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000395812.2_Missense_Mutation_p.K748N|CAST_ENST00000511782.1_Missense_Mutation_p.K692N|CAST_ENST00000510756.1_Missense_Mutation_p.K767N|CAST_ENST00000359176.4_Missense_Mutation_p.K770N|CAST_ENST00000341926.3_Missense_Mutation_p.K706N|CAST_ENST00000338252.3_Missense_Mutation_p.K693N|CAST_ENST00000508608.1_Missense_Mutation_p.K752N|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000325674.7_Missense_Mutation_p.K754N|CAST_ENST00000515663.1_Missense_Mutation_p.K429N|CAST_ENST00000504465.1_Missense_Mutation_p.K634N|CAST_ENST00000508579.1_Missense_Mutation_p.K421N			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													74	304					0	0	1	0	0	C	96107374	A	C	96107374	3	2	22	1	0	0	0	0	1	0	0	0	2702	69	3	3	2613	3	CAST	5	96107374	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	345809	96107374	84807886	6139	8285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	442					0	0	1	0	0	T	96315306	C	T	96315306	3	4	22	1	0	0	0	0	1	0	0	0	8905	855	30	2	490	2	LNPEP	5	96315306	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207932	96315306	84599954	6140	8286											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													152	647					0	0	1	0	0	G	96349496	A	G	96349496	3	3	22	1	0	0	0	0	1	0	0	0	8905	275	10	3	2226	3	LNPEP	5	96349496	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34190	96349496	84565764	6141	8287											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	454					0	0	1	0	0	A	96430577	G	A	96430577	2	1	22	1	0	0	0	0	0	0	0	1	8872	1020	36	2		2	LIX1	5	96430577	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81081	96430577	84484683	6142	8288											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	104					0	0	1	0	0	T	98129023	C	T	98129023	3	4	22	1	0	0	0	0	1	0	0	0	13333	652	23	1	1017	1	RGMB	5	98129023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1698446	98129023	82786237	6143	8289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	207					0	0	1	0	0	C	98209328	T	C	98209328	2	2	22	1	0	0	0	0	0	0	0	1	3345	1751	61	3		3	CHD1	5	98209328	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	80305	98209328	82705932	6144	8290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	240					0	0	1	0	0	C	100191813	A	C	100191813	3	2	22	1	0	0	0	0	1	0	0	0	15290	275	10	3	296	3	ST8SIA4	5	100191813	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1982485	100191813	80723447	6145	8291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	398					0	0	1	0	0	T	101583122	C	T	101583122	3	4	22	1	0	0	0	0	1	0	0	0	14785	835	29	2	545	2	SLCO4C1	5	101583122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1391309	101583122	79332138	6146	8292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	273					0	0	1	0	0	T	101631905	C	T	101631905	3	4	22	1	0	0	0	0	1	0	0	0	14785	768	27	1	2164	1	SLCO4C1	5	101631905	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48783	101631905	79283355	6147	8293											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379807.3_Missense_Mutation_p.N104S|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.N104S|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.N104S|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.N104S			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													90	420					0	0	1	0	0	C	101834238	T	C	101834238	3	2	22	1	0	0	0	0	1	0	0	0	14787	1725	60	3	1900	3	SLCO6A1	5	101834238	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	202333	101834238	79081022	6148	8294											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000304400.7_Silent_p.T328T|PAM_ENST00000455264.2_Silent_p.T328T|PAM_ENST00000348126.2_Silent_p.T328T|PAM_ENST00000346918.2_Silent_p.T328T|PAM_ENST00000274392.9_Silent_p.T231T|PAM_ENST00000379787.4_5'UTR	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													88	368					3.98749e-38	4.80009e-38	1	1	0	A	102295657	C	A	102295657	2	1	22	1	0	0	0	0	0	0	0	1	11459	668	24	2		2	PAM	5	102295657	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	461419	102295657	78619603	6149	8295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000304400.7_Missense_Mutation_p.I734V|PAM_ENST00000455264.2_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|PAM_ENST00000379787.4_Missense_Mutation_p.I114V	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													47	168					0	0	1	0	0	G	102343346	A	G	102343346	3	3	22	1	0	0	0	0	1	0	0	0	11459	101	4	3	2274	3	PAM	5	102343346	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47689	102343346	78571914	6150	8296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000304400.7_Silent_p.G933G|PAM_ENST00000455264.2_Silent_p.G864G|PAM_ENST00000348126.2_Silent_p.G825G|PAM_ENST00000346918.2_Silent_p.G846G|PAM_ENST00000274392.9_Silent_p.G834G|PAM_ENST00000379787.4_Silent_p.G294G	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													53	257					2.78941e-39	3.37203e-39	1	1	0	A	102364643	C	A	102364643	2	1	22	1	0	0	0	0	0	0	0	1	11459	784	28	2		2	PAM	5	102364643	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21297	102364643	78550617	6151	8297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	374					0	0	1	0	0	A	102887938	G	A	102887938	3	1	22	1	0	0	0	0	1	0	0	0	10776	1116	39	1	138	1	NUDT12	5	102887938	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	523295	102887938	78027322	6152	8298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000496714.1_Silent_p.A237A|FBXL17_ENST00000359660.5_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													52	590					0	0	1	0	0	A	107216798	G	A	107216798	2	1	22	1	0	0	0	0	0	0	0	1	5746	1335	47	2		2	FBXL17	5	107216798	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4328860	107216798	73698462	6153	8299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000496714.1_Missense_Mutation_p.G134E|FBXL17_ENST00000359660.5_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													43	186					0	0	1	0	0	T	107559841	C	T	107559841	3	4	22	1	0	0	0	0	1	0	0	0	5746	855	30	2	530	2	FBXL17	5	107559841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	343043	107559841	73355419	6154	8300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	410					2.96211e-45	3.63119e-45	1	1	0	T	108168620	G	T	108168620	3	4	22	1	0	0	0	0	1	0	0	0	5846	962	34	2	363	2	FER	5	108168620	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	608779	108168620	72746640	6155	8301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	402					0	0	1	0	0	G	108281903	T	G	108281903	3	3	22	1	0	0	0	0	1	0	0	0	5846	1435	50	3	1343	3	FER	5	108281903	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	113283	108281903	72633357	6156	8302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	350					0	0	1	0	0	C	108290635	T	C	108290635	5	2	22	1	0	0	0	0	0	0	1	0	5846	1652	57	3	1573	3	FER	5	108290635	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8732	108290635	72624625	6157	8303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	255					0	0	1	0	0	A	108294941	G	A	108294941	3	1	22	1	0	0	0	0	1	0	0	0	5846	1059	37	1	1591	1	FER	5	108294941	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4306	108294941	72620319	6158	8304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	419					0	0	1	0	0	T	108516459	C	T	108516459	3	4	22	1	0	0	0	0	1	0	0	0	5846	710	25	2	2122	2	FER	5	108516459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221518	108516459	72398801	6159	8305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	334					0	0	1	0	0	T	108516585	C	T	108516585	3	4	22	1	0	0	0	0	1	0	0	0	5846	652	23	1	2248	1	FER	5	108516585	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126	108516585	72398675	6160	8306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	191					2.11614e-10	2.24326e-10	1	1	0	T	109156033	G	T	109156033	3	4	22	1	0	0	0	0	1	0	0	0	9264	1261	44	2	2499	2	MAN2A1	5	109156033	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	639448	109156033	71759227	6161	8307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	192					0	0	1	0	0	A	109190997	G	A	109190997	3	1	22	1	0	0	0	0	1	0	0	0	9264	1290	45	2	3211	2	MAN2A1	5	109190997	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34964	109190997	71724263	6162	8308	46	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	181					0	0	1	0	0	C	109191007	T	C	109191007	3	2	22	1	0	0	0	0	1	0	0	0	9264	1580	55	3	3221	3	MAN2A1	5	109191007	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10	109191007	71724253	6163	8309	46	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	410					0	0	1	0	0	T	109202616	C	T	109202616	3	4	22	1	0	0	0	0	1	0	0	0	9264	710	25	2	3438	2	MAN2A1	5	109202616	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11609	109202616	71712644	6164	8310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504098.1_Missense_Mutation_p.P10H|SLC25A46_ENST00000447245.2_Missense_Mutation_p.P156H|SLC25A46_ENST00000513807.1_5'UTR|SLC25A46_ENST00000509442.2_Missense_Mutation_p.P65H	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													20	309					7.45023e-12	7.97024e-12	1	1	0	A	110083868	C	A	110083868	3	1	22	1	0	0	0	0	1	0	0	0	14566	681	24	2	485	2	SLC25A46	5	110083868	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	881252	110083868	70831392	6165	8311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379706.4_5'UTR|TSLP_ENST00000344895.3_Missense_Mutation_p.E96K			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													179	791					0	0	1	0	0	A	110409278	G	A	110409278	3	1	22	1	0	0	0	0	1	0	0	0	16689	943	33	2	296	2	TSLP	5	110409278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	325410	110409278	70505982	6166	8312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	390					0	0	1	0	0	T	110818547	C	T	110818547	3	4	22	1	0	0	0	0	1	0	0	0	2623	652	23	1	931	1	CAMK4	5	110818547	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	409269	110818547	70096713	6167	8313											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	300					0	0	1	0	0	G	110835588	A	G	110835588	3	3	22	1	0	0	0	0	1	0	0	0	15315	372	13	3	7	3	STARD4	5	110835588	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17041	110835588	70079672	6168	8314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	414					0	0	1	0	0	T	110835647	C	T	110835647	2	4	22	1	0	0	0	0	0	0	0	1	15315	639	23	1		1	STARD4	5	110835647	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59	110835647	70079613	6169	8315											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_071423.3	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													92	410					0	0	1	0	0	G	111598231	T	G	111598231	3	3	22	1	0	0	0	0	1	0	0	0	5183	1841	64	3	1526	3	EPB41L4A	5	111598231	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	762584	111598231	69317029	6170	8316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_071423.3	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													218	947					0	0	1	0	0	T	111615981	C	T	111615981	3	4	22	1	0	0	0	0	1	0	0	0	5183	922	32	2	1900	2	EPB41L4A	5	111615981	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17750	111615981	69299279	6171	8317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_071423.3	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													40	201					0	0	1	0	0	T	111643154	C	T	111643154	3	4	22	1	0	0	0	0	1	0	0	0	5183	536	19	1	2015	1	EPB41L4A	5	111643154	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27173	111643154	69272106	6172	8318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508376.2_Missense_Mutation_p.Y158H|APC_ENST00000257430.4_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)			69	324					0	0	1	0	0	C	112111375	T	C	112111375	3	2	22	1	0	0	0	0	1	0	0	0	759	1638	57	3	486	3	APC	5	112111375	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	468221	112111375	68803885	6173	8319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508376.2_Missense_Mutation_p.R230C|APC_ENST00000257430.4_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)			57	237					0	0	1	0	0	T	112128185	C	T	112128185	3	4	22	1	0	0	0	0	1	0	0	0	759	884	31	1	710	1	APC	5	112128185	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16810	112128185	68787075	6174	8320											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508376.2_Silent_p.C344C|APC_ENST00000257430.4_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)			119	445					0	0	1	0	0	C	112154761	T	C	112154761	2	2	22	1	0	0	0	0	0	0	0	1	759	1644	57	3		3	APC	5	112154761	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26576	112154761	68760499	6175	8321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508376.2_Missense_Mutation_p.R374W|APC_ENST00000257430.4_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)			11	254					0	0	1	0	0	T	112154849	C	T	112154849	3	4	22	1	0	0	0	0	1	0	0	0	759	643	23	1	1154	1	APC	5	112154849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	112154849	68760411	6176	8322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508376.2_Missense_Mutation_p.P1613H|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_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)			99	838					5.86298e-51	7.2719e-51	1	1	0	A	112176129	C	A	112176129	3	1	22	1	0	0	0	0	1	0	0	0	759	681	24	2	4896	2	APC	5	112176129	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21280	112176129	68739131	6177	8323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112321682T>C	ENST00000389063.2	+	2	402	c.205_splice	c.e2+1	p.A68_splice	DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Splice_Site_p.A68_splice	NM_152624.5	NP_689837.2	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													79	377					0	0	1	0	0	C	112321682	T	C	112321682	5	2	22	1	0	0	0	0	0	0	1	0	4323	1594	55	3	210	3	DCP2	5	112321682	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	145553	112321682	68593578	6178	8324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000408903.3_Missense_Mutation_p.S730I|MCC_ENST00000515367.2_Missense_Mutation_p.S477I|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	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													86	350					2.10502e-31	2.47866e-31	1	1	0	A	112399705	C	A	112399705	3	1	22	1	0	0	0	0	1	0	0	0	9423	797	28	2	894	2	MCC	5	112399705	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78023	112399705	68515555	6179	8325											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001078846.1	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													6	284					0.00116845	0.00118049	1	1	0	T	112676295	G	T	112676295	3	4	22	1	0	0	0	0	1	0	0	0	9423	971	34	2	2640	2	MCC	5	112676295	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	276590	112676295	68238965	6180	8326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001078846.1	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													10	397					0	0	1	0	0	T	112720690	C	T	112720690	4	4	22	1	0	0	0	0	0	1	0	0	9423	740	26	2	2802	2	MCC	5	112720690	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44395	112720690	68194570	6181	8327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA	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													56	234					0	0	1	0	0	A	112770312	G	A	112770312	2	1	22	1	0	0	0	0	0	0	0	1	16729	987	35	2		2	TSSK1B	5	112770312	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49622	112770312	68144948	6182	8328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	95					1.67305e-13	1.80725e-13	1	1	0	T	112849636	G	T	112849636	3	4	22	1	0	0	0	0	1	0	0	0	17557	1203	42	2	46	2	YTHDC2	5	112849636	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79324	112849636	68065624	6183	8329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	169					0	0	1	0	0	A	112889540	G	A	112889540	3	1	22	1	0	0	0	0	1	0	0	0	17557	1377	48	2	2099	2	YTHDC2	5	112889540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39904	112889540	68025720	6184	8330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000282369.3_Missense_Mutation_p.K647N|TRIM36_ENST00000514154.1_Missense_Mutation_p.K492N			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													60	255					2.5401e-28	2.95449e-28	1	1	0	A	114462446	C	A	114462446	3	1	22	1	0	0	0	0	1	0	0	0	16571	564	20	2	249	2	TRIM36	5	114462446	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1572906	114462446	66452814	6185	8331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000282369.3_Missense_Mutation_p.D123Y|TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_5'UTR			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													129	510					3.47496e-60	4.36768e-60	1	1	0	A	114483023	C	A	114483023	3	1	22	1	0	0	0	0	1	0	0	0	16571	855	30	2	1851	2	TRIM36	5	114483023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20577	114483023	66432237	6186	8332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000282369.3_Missense_Mutation_p.D66Y|TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron			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													85	373					2.13431e-38	2.57195e-38	1	1	0	A	114499317	C	A	114499317	3	1	22	1	0	0	0	0	1	0	0	0	16571	826	29	2	2026	2	TRIM36	5	114499317	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16294	114499317	66415943	6187	8333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379617.2_Missense_Mutation_p.G11D|TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000379618.2_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													113	571					0	0	1	0	0	T	114515703	C	T	114515703	3	4	22	1	0	0	0	0	1	0	0	0	16571	739	26	2	2445	2	TRIM36	5	114515703	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16386	114515703	66399557	6188	8334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114604698C>A	ENST00000379611.5	-	9	1716		c.e9-1		CCDC112_ENST00000512261.1_Splice_Site|CCDC112_ENST00000506442.1_Splice_Site|CCDC112_ENST00000395557.4_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													52	278					3.4597e-24	3.94879e-24	1	1	0	A	114604698	C	A	114604698	5	1	22	1	0	0	0	0	0	0	1	0	2767	695	24	2	169	2	CCDC112	5	114604698	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88995	114604698	66310562	6189	8335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512261.1_Missense_Mutation_p.Q382H|CCDC112_ENST00000506442.1_Intron|CCDC112_ENST00000395557.4_Missense_Mutation_p.Q382H	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													13	60					0	0	1	0	0	G	114605433	T	G	114605433	3	3	22	1	0	0	0	0	1	0	0	0	2767	1838	64	3	206	3	CCDC112	5	114605433	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	735	114605433	66309827	6190	8336											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503027.1_5'UTR|CCDC112_ENST00000512261.1_Missense_Mutation_p.S134N|CCDC112_ENST00000506442.1_Missense_Mutation_p.S134N|CCDC112_ENST00000395557.4_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													124	530					0	0	1	0	0	T	114611181	C	T	114611181	3	4	22	1	0	0	0	0	1	0	0	0	2767	797	28	2	959	2	CCDC112	5	114611181	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5748	114611181	66304079	6191	8337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503027.1_5'UTR|CCDC112_ENST00000512261.1_Silent_p.S21S|CCDC112_ENST00000506442.1_Silent_p.S21S|CCDC112_ENST00000395557.4_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													29	137					0	0	1	0	0	G	114615393	A	G	114615393	2	3	22	1	0	0	0	0	0	0	0	1	2767	388	14	3		3	CCDC112	5	114615393	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4212	114615393	66299867	6192	8338											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503010.1_5'UTR|TMED7-TICAM2_ENST00000333314.3_Missense_Mutation_p.F108C|AC010226.4_ENST00000515570.1_RNA|TMED7-TICAM2_ENST00000282382.4_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													82	366					0	0	1	0	0	C	114956247	A	C	114956247	3	2	22	1	0	0	0	0	1	0	0	0	16069	14	1	3	359	3	TMED7	5	114956247	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	340854	114956247	65959013	6193	8339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	187					0	0	1	0	0	T	115361774	C	T	115361774	2	4	22	1	0	0	0	0	0	0	0	1	831	796	28	2		2	AQPEP	5	115361774	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	405527	115361774	65553486	6194	8340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SEMA6A_ENST00000257414.8_Missense_Mutation_p.G489D|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_Missense_Mutation_p.G21D|SEMA6A_ENST00000510263.1_Missense_Mutation_p.G489D|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847.1	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													63	245					0	0	1	0	0	T	115813812	C	T	115813812	3	4	22	1	0	0	0	0	1	0	0	0	14093	739	26	2	1650	2	SEMA6A	5	115813812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	452038	115813812	65101448	6195	8341											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SEMA6A_ENST00000257414.8_Silent_p.G430G|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.G430G|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847.1	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													23	127					2.98393e-07	3.0958e-07	1	1	0	A	115814375	C	A	115814375	2	1	22	1	0	0	0	0	0	0	0	1	14093	726	26	2		2	SEMA6A	5	115814375	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	563	115814375	65100885	6196	8342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115832009T>C	ENST00000343348.6	-	5	1067	c.279_splice	c.e5-1	p.K94_splice	SEMA6A_ENST00000257414.8_Splice_Site_p.K94_splice|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Splice_Site_p.K94_splice|SEMA6A_ENST00000503962.1_5'UTR	NM_020796.3	NP_065847.1	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													87	340					0	0	1	0	0	C	115832009	T	C	115832009	5	2	22	1	0	0	0	0	0	0	1	0	14093	1797	62	3	2872	3	SEMA6A	5	115832009	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17634	115832009	65083251	6197	8343											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	487					1.12875e-08	1.18168e-08	1	1	0	T	118469685	G	T	118469685	3	4	22	1	0	0	0	0	1	0	0	0	4622	971	34	2	2112	2	DMXL1	5	118469685	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2637676	118469685	62445575	6198	8344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	452					1.42366e-38	1.7169e-38	1	1	0	T	118484538	G	T	118484538	3	4	22	1	0	0	0	0	1	0	0	0	4622	942	33	2	3086	2	DMXL1	5	118484538	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14853	118484538	62430722	6199	8345											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	334					0	0	1	0	0	T	118485814	C	T	118485814	3	4	22	1	0	0	0	0	1	0	0	0	4622	536	19	1	4362	1	DMXL1	5	118485814	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1276	118485814	62429446	6200	8346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515320.1_Missense_Mutation_p.R525C|HSD17B4_ENST00000256216.6_Missense_Mutation_p.R543C|HSD17B4_ENST00000509514.1_Missense_Mutation_p.R281C|HSD17B4_ENST00000414835.2_Missense_Mutation_p.R403C|HSD17B4_ENST00000513628.1_Missense_Mutation_p.R406C|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000510025.1_Missense_Mutation_p.R519C	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													81	448					0	0	1	0	0	T	118861665	C	T	118861665	3	4	22	1	0	0	0	0	1	0	0	0	7427	768	27	1	1701	1	HSD17B4	5	118861665	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	375851	118861665	62053595	6201	8347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515320.1_Missense_Mutation_p.V624A|HSD17B4_ENST00000256216.6_Missense_Mutation_p.V642A|HSD17B4_ENST00000509514.1_Missense_Mutation_p.V380A|HSD17B4_ENST00000414835.2_Missense_Mutation_p.V502A|HSD17B4_ENST00000513628.1_Missense_Mutation_p.V505A|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000510025.1_Missense_Mutation_p.V618A	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													42	385					0	0	1	0	0	C	118867031	T	C	118867031	3	2	22	1	0	0	0	0	1	0	0	0	7427	1696	59	3	2011	3	HSD17B4	5	118867031	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5366	118867031	62048229	6202	8348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515320.1_Missense_Mutation_p.G683S|HSD17B4_ENST00000256216.6_Missense_Mutation_p.G701S|HSD17B4_ENST00000509514.1_Missense_Mutation_p.G439S|HSD17B4_ENST00000414835.2_Missense_Mutation_p.G561S|HSD17B4_ENST00000513628.1_Missense_Mutation_p.G564S|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000510025.1_Missense_Mutation_p.G677S	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													7	369					0	0	1	0	0	A	118872225	G	A	118872225	3	1	22	1	0	0	0	0	1	0	0	0	7427	1232	43	2	2191	2	HSD17B4	5	118872225	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5194	118872225	62043035	6203	8349											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	53					0	0	1	0	0	A	119800284	G	A	119800284	3	1	22	1	0	0	0	0	1	0	0	0	12641	1189	41	2		2	PRR16	5	119800284	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	928059	119800284	61114976	6204	8350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446965.1_Nonsense_Mutation_p.Y143*|PRR16_ENST00000505123.1_Nonsense_Mutation_p.Y143*|PRR16_ENST00000407149.2_Nonsense_Mutation_p.Y213*	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													40	210					6.33695e-27	7.31871e-27	1	1	0	A	120022128	C	A	120022128	4	1	22	1	0	0	0	0	0	1	0	0	12641	518	18	2	576	2	PRR16	5	120022128	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221844	120022128	60893132	6205	8351											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	376					0	0	1	0	0	A	121187676	G	A	121187676	2	1	22	1	0	0	0	0	0	0	0	1	6120	1194	42	2		2	FTMT	5	121187676	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1165548	121187676	59727584	6206	8352											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	117					0	0	1	0	0	A	121187812	G	A	121187812	3	1	22	1	0	0	0	0	1	0	0	0	6120	971	34	2	156	2	FTMT	5	121187812	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136	121187812	59727448	6207	8353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	460					0	0	1	0	0	T	121188106	C	T	121188106	4	4	22	1	0	0	0	0	0	1	0	0	6120	479	17	2	450	2	FTMT	5	121188106	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	294	121188106	59727154	6208	8354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	152					0	0	1	0	0	T	121362759	C	T	121362759	4	4	22	1	0	0	0	0	0	1	0	0	15200	760	27	1	1258	1	SRFBP1	5	121362759	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174653	121362759	59552501	6209	8355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	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													59	298					0	0	1	0	0	T	121488445	C	T	121488445	3	4	22	1	0	0	0	0	1	0	0	0	17989	797	28	2	762	2	ZNF474	5	121488445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125686	121488445	59426815	6210	8356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261368.8_Silent_p.Q550Q|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Silent_p.Q597Q|SNCAIP_ENST00000379536.2_Silent_p.Q490Q|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379538.3_Silent_p.Q184Q|SNCAIP_ENST00000414317.2_Silent_p.Q152Q|SNCAIP_ENST00000542191.1_Silent_p.Q108Q|CTC-210G5.1_ENST00000505546.1_RNA			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													130	519					0	0	1	0	0	A	121785597	G	A	121785597	2	1	22	1	0	0	0	0	0	0	0	1	14895	933	33	2		2	SNCAIP	5	121785597	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	297152	121785597	59129663	6211	8357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.F733C|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.F780C|SNCAIP_ENST00000379536.2_Missense_Mutation_p.F673C|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.F367C|SNCAIP_ENST00000414317.2_Missense_Mutation_p.F335C|SNCAIP_ENST00000542191.1_Missense_Mutation_p.F291C|CTC-210G5.1_ENST00000505546.1_RNA			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													54	222					0	0	1	0	0	G	121786740	T	G	121786740	3	3	22	1	0	0	0	0	1	0	0	0	14895	1841	64	3	2232	3	SNCAIP	5	121786740	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1143	121786740	59128520	6212	8358											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P748T|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P795T|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P688T|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P382T|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P350T|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P306T|CTC-210G5.1_ENST00000505546.1_RNA			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													50	221					1.15181e-12	1.23883e-12	1	1	0	A	121786784	C	A	121786784	3	1	22	1	0	0	0	0	1	0	0	0	14895	623	22	2	2276	2	SNCAIP	5	121786784	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44	121786784	59128476	6213	8359											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.Q779H|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.Q826H|SNCAIP_ENST00000379536.2_Missense_Mutation_p.Q719H|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.Q413H|SNCAIP_ENST00000414317.2_Missense_Mutation_p.Q381H|SNCAIP_ENST00000542191.1_Missense_Mutation_p.Q337H|CTC-210G5.1_ENST00000505546.1_RNA			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													52	199					1.21353e-23	1.38083e-23	1	1	0	T	121786879	G	T	121786879	3	4	22	1	0	0	0	0	1	0	0	0	14895	962	34	2	2371	2	SNCAIP	5	121786879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95	121786879	59128381	6214	8360											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Missense_Mutation_p.P151S	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													7	115					0	0	1	0	0	T	122152613	C	T	122152613	3	4	22	1	0	0	0	0	1	0	0	0	14945	739	26	2	836	2	SNX2	5	122152613	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	365734	122152613	58762647	6215	8361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000513881.1_Missense_Mutation_p.R138M|SNX24_ENST00000395451.4_Missense_Mutation_p.R171M|SNX24_ENST00000506996.1_Missense_Mutation_p.R138M	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													25	601					1.77063e-15	1.9355e-15	1	1	0	T	122337670	G	T	122337670	3	4	22	1	0	0	0	0	1	0	0	0	14949	1000	35	2	435	2	SNX24	5	122337670	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	185057	122337670	58577590	6216	8362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	117					1.2644e-06	1.30616e-06	1	1	0	A	122361664	C	A	122361664	5	1	22	1	0	0	0	0	0	0	1	0	12369	695	24	2	321	2	PPIC	5	122361664	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23994	122361664	58553596	6217	8363											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													129	541					0	0	1	0	0	A	122713160	G	A	122713160	3	1	22	1	0	0	0	0	1	0	0	0	3268	1116	39	1	714	1	CEP120	5	122713160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	351496	122713160	58202100	6218	8364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	103					0	0	1	0	0	T	122718760	C	T	122718760	3	4	22	1	0	0	0	0	1	0	0	0	3268	797	28	2	1216	2	CEP120	5	122718760	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5600	122718760	58196500	6219	8365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	247					0	0	1	0	0	T	122720769	C	T	122720769	3	4	22	1	0	0	0	0	1	0	0	0	3268	632	22	2	1361	2	CEP120	5	122720769	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2009	122720769	58194491	6220	8366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395431.2_Missense_Mutation_p.S193A|CEP120_ENST00000306481.6_Missense_Mutation_p.S167A			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													55	311					0	0	1	0	0	C	122734865	A	C	122734865	3	2	22	1	0	0	0	0	1	0	0	0	3268	275	10	3	2447	3	CEP120	5	122734865	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14096	122734865	58180395	6221	8367											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395431.2_Missense_Mutation_p.R72H|CEP120_ENST00000306481.6_Missense_Mutation_p.R46H			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													23	126					0	0	1	0	0	T	122751810	C	T	122751810	3	4	22	1	0	0	0	0	1	0	0	0	3268	536	19	1	2817	1	CEP120	5	122751810	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16945	122751810	58163450	6222	8368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	482					9.81067e-33	1.16009e-32	1	1	0	T	123984658	G	T	123984658	3	4	22	1	0	0	0	0	1	0	0	0	18091	1194	42	2	3143	2	ZNF608	5	123984658	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1232848	123984658	56930602	6223	8369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	652					0	0	1	0	0	A	125889982	G	A	125889982	2	1	22	1	0	0	0	0	0	0	0	1	501	1306	46	2		2	ALDH7A1	5	125889982	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1905324	125889982	55025278	6224	8370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:125971724C>T	ENST00000357147.3	+	3	209	c.195_splice	c.e3-1	p.Q66_splice		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													37	865					0	0	1	0	0	T	125971724	C	T	125971724	5	4	22	1	0	0	0	0	0	0	1	0	2321	724	25	2	206	2	C5orf48	5	125971724	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81742	125971724	54943536	6225	8371											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508365.1_Missense_Mutation_p.T70A|MEGF10_ENST00000418761.2_Missense_Mutation_p.T70A|MEGF10_ENST00000503335.2_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													76	326					0	0	1	0	0	G	126674903	A	G	126674903	3	3	22	1	0	0	0	0	1	0	0	0	9510	159	6	3	214	3	MEGF10	5	126674903	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	703179	126674903	54240357	6226	8372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508365.1_Missense_Mutation_p.R558C|MEGF10_ENST00000418761.2_Missense_Mutation_p.R558C|MEGF10_ENST00000503335.2_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													34	179					0	0	1	0	0	T	126758443	C	T	126758443	3	4	22	1	0	0	0	0	1	0	0	0	9510	652	23	1	1718	1	MEGF10	5	126758443	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83540	126758443	54156817	6227	8373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	129					0	0	1	0	0	T	126771137	C	T	126771137	3	4	22	1	0	0	0	0	1	0	0	0	9510	913	32	2	2118	2	MEGF10	5	126771137	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12694	126771137	54144123	6228	8374											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000510828.1_Intron|MEGF10_ENST00000503335.2_Missense_Mutation_p.R844Q	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													20	436					0	0	1	0	0	A	126781188	G	A	126781188	3	1	22	1	0	0	0	0	1	0	0	0	9510	1058	37	1	2605	1	MEGF10	5	126781188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10051	126781188	54134072	6229	8375											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512635.2_Intron|PRRC1_ENST00000296666.8_Intron|PRRC1_ENST00000513427.1_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													25	95					0	0	1	0	0	T	126883688	C	T	126883688	2	4	22	1	0	0	0	0	0	0	0	1	12654	899	31	1		1	PRRC1	5	126883688	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102500	126883688	54031572	6230	8376											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442138.2_3'UTR|PRRC1_ENST00000512635.2_Missense_Mutation_p.L387R|PRRC1_ENST00000513427.1_3'UTR	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													7	293					0	0	1	0	0	G	126887430	T	G	126887430	3	3	22	1	0	0	0	0	1	0	0	0	12654	1580	55	3	1190	3	PRRC1	5	126887430	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3742	126887430	54027830	6231	8377	47	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442138.2_3'UTR|PRRC1_ENST00000512635.2_Nonsense_Mutation_p.W389*|PRRC1_ENST00000513427.1_3'UTR	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													55	242					0	0	1	0	0	A	126887437	G	A	126887437	4	1	22	1	0	0	0	0	0	1	0	0	12654	1270	44	2	1197	2	PRRC1	5	126887437	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7	126887437	54027823	6232	8378	47	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	712					0	0	1	0	0	G	127484510	A	G	127484510	3	3	22	1	0	0	0	0	1	0	0	0	14438	101	4	3	1992	3	SLC12A2	5	127484510	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	597073	127484510	53430750	6233	8379											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	61					0	0	1	0	0	C	127497402	T	C	127497402	2	2	22	1	0	0	0	0	0	0	0	1	14438	1442	50	3		3	SLC12A2	5	127497402	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12892	127497402	53417858	6234	8380											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	230					0	0	1	0	0	A	127622437	G	A	127622437	4	1	22	1	0	0	0	0	0	1	0	0	5736	1124	39	1	1797	1	FBN2	5	127622437	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125035	127622437	53292823	6235	8381											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	923					5.45727e-16	5.98072e-16	1	1	0	T	127671238	G	T	127671238	2	4	22	1	0	0	0	0	0	0	0	1	5736	958	34	2		2	FBN2	5	127671238	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48801	127671238	53244022	6236	8382											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	528					0	0	1	0	0	T	127680140	C	T	127680140	3	4	22	1	0	0	0	0	1	0	0	0	5736	661	23	1	5622	1	FBN2	5	127680140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8902	127680140	53235120	6237	8383											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	150					0	0	1	0	0	C	127705025	T	C	127705025	3	2	22	1	0	0	0	0	1	0	0	0	5736	1638	57	3	6840	3	FBN2	5	127705025	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24885	127705025	53210235	6238	8384											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	117					0	0	1	0	0	G	127872100	A	G	127872100	3	3	22	1	0	0	0	0	1	0	0	0	5736	101	4	3	8662	3	FBN2	5	127872100	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	167075	127872100	53043160	6239	8385											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	184					0	0	1	0	0	T	128302184	C	T	128302184	2	4	22	1	0	0	0	0	0	0	0	1	14585	883	31	1		1	SLC27A6	5	128302184	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	430084	128302184	52613076	6240	8386											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	197					1.58986e-06	1.64048e-06	1	1	0	A	128326153	C	A	128326153	3	1	22	1	0	0	0	0	1	0	0	0	14585	913	32	2	979	2	SLC27A6	5	128326153	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23969	128326153	52589107	6241	8387											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	335					0	0	1	0	0	A	129019923	G	A	129019923	4	1	22	1	0	0	0	0	0	1	0	0	263	1183	41	2	2827	2	ADAMTS19	5	129019923	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	693770	129019923	51895337	6242	8388											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	403					0	0	1	0	0	C	129030537	A	C	129030537	2	2	22	1	0	0	0	0	0	0	0	1	263	204	8	3		3	ADAMTS19	5	129030537	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10614	129030537	51884723	6243	8389											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	188					1.6237e-14	1.76477e-14	1	1	0	A	129244046	C	A	129244046	3	1	22	1	0	0	0	0	1	0	0	0	3435	913	32	2	1085	2	CHSY3	5	129244046	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	213509	129244046	51671214	6244	8390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	445					0	0	1	0	0	G	129521060	A	G	129521060	3	3	22	1	0	0	0	0	1	0	0	0	3435	391	14	3	2235	3	CHSY3	5	129521060	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	277014	129521060	51394200	6245	8391											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	319					0	0	1	0	0	T	130721245	C	T	130721245	3	4	22	1	0	0	0	0	1	0	0	0	3102	527	19	1	70	1	CDC42SE2	5	130721245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1200185	130721245	50194015	6246	8392											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	421					0	0	1	0	0	A	130726743	G	A	130726743	3	1	22	1	0	0	0	0	1	0	0	0	3102	1319	46	2	224	2	CDC42SE2	5	130726743	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5498	130726743	50188517	6247	8393											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FNIP1_ENST00000514667.1_Silent_p.S1391S|RAPGEF6_ENST00000507093.1_Silent_p.S1349S|RAPGEF6_ENST00000307984.5_Silent_p.S1354S|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													71	302					0	0	1	0	0	T	130766994	C	T	130766994	2	4	22	1	0	0	0	0	0	0	0	1	13100	523	19	1		1	RAPGEF6	5	130766994	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40251	130766994	50148266	6248	8394	48	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FNIP1_ENST00000514667.1_Missense_Mutation_p.A1388V|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.A1346V|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.A1351V|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													7	375					0	0	1	0	0	A	130767004	G	A	130767004	3	1	22	1	0	0	0	0	1	0	0	0	13100	971	34	2	804	2	RAPGEF6	5	130767004	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10	130767004	50148256	6249	8395	48	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000308008.6_Missense_Mutation_p.A1061S|FNIP1_ENST00000514667.1_Missense_Mutation_p.A1111S|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.A1066S|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.A776S|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													65	341					3.12118e-38	3.75939e-38	1	1	0	A	130788766	C	A	130788766	3	1	22	1	0	0	0	0	1	0	0	0	13100	797	28	2	2119	2	RAPGEF6	5	130788766	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21762	130788766	50126494	6250	8396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000308008.6_Missense_Mutation_p.T387I|FNIP1_ENST00000514667.1_Missense_Mutation_p.T437I|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T387I|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T387I|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.T102I|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T387I|RAPGEF6_ENST00000510071.1_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													91	302					0	0	1	0	0	A	130840413	G	A	130840413	3	1	22	1	0	0	0	0	1	0	0	0	13100	1261	44	2	4203	2	RAPGEF6	5	130840413	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51647	130840413	50074847	6251	8397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000308008.6_Missense_Mutation_p.S81F|FNIP1_ENST00000514667.1_Missense_Mutation_p.S131F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S81F|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S81F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S81F|RAPGEF6_ENST00000510071.1_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													26	183					0	0	1	0	0	A	130928115	G	A	130928115	3	1	22	1	0	0	0	0	1	0	0	0	13100	942	33	2	5149	2	RAPGEF6	5	130928115	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87702	130928115	49987145	6252	8398											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.K91E|FNIP1_ENST00000510461.1_Missense_Mutation_p.K91E	NM_001008738.2	NP_001008738.2			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													67	295					0	0	1	0	0	C	131066680	T	C	131066680	3	2	22	1	0	0	0	0	1	0	0	0	6008	1792	62	3	3293	3	FNIP1	5	131066680	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	138565	131066680	49848580	6253	8399											
FNIP1	96459	broad.mit.edu	37	chr5	131080272	131080272	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccgatactgatatgtcCtcatttcttctcttaacact	3	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131080272C>A	ENST00000514667.1	-	2	265	c.204G>T	c.(202-204)gaG>gaT	p.E68D	FNIP1_ENST00000307968.7_Missense_Mutation_p.E68D|FNIP1_ENST00000307954.8_Missense_Mutation_p.E68D|FNIP1_ENST00000511848.1_Missense_Mutation_p.E68D|FNIP1_ENST00000510461.1_Missense_Mutation_p.E68D					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)		CTGATATGTCCTCATTTCTTC	0.363													74	354					2.88734e-31	3.39666e-31	1	1	0	A	131080272	C	A	131080272	3	1	22	1	0	0	0	0	1	0	0	0	6008	680	24	2	3364	2	FNIP1	5	131080272	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13592	131080272	49834988	6254	8400											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379246.1_Missense_Mutation_p.D485N|ACSL6_ENST00000379244.1_Missense_Mutation_p.D474N|ACSL6_ENST00000379272.2_Missense_Mutation_p.D489N|ACSL6_ENST00000357096.1_Missense_Mutation_p.D399N|ACSL6_ENST00000379249.3_Missense_Mutation_p.D474N|ACSL6_ENST00000379255.1_Missense_Mutation_p.D399N|ACSL6_ENST00000379240.1_Missense_Mutation_p.D474N|ACSL6_ENST00000543479.1_Missense_Mutation_p.D474N|ACSL6_ENST00000544770.1_Missense_Mutation_p.D383N|ACSL6_ENST00000296869.4_Missense_Mutation_p.D499N|ACSL6_ENST00000431707.1_Missense_Mutation_p.D454N	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													22	711					0	0	1	0	0	T	131305833	C	T	131305833	3	4	22	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	225561	131305833	49609427	6255	8401											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379246.1_Silent_p.E25E|ACSL6_ENST00000379244.1_Silent_p.E14E|ACSL6_ENST00000379272.2_Silent_p.E14E|ACSL6_ENST00000357096.1_Silent_p.E14E|ACSL6_ENST00000379249.3_Silent_p.E14E|ACSL6_ENST00000379255.1_Silent_p.E14E|ACSL6_ENST00000379240.1_Silent_p.E14E|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000543479.1_Silent_p.E14E|ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000296869.4_Silent_p.E39E|ACSL6_ENST00000431707.1_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													37	147					0	0	1	0	0	T	131329877	C	T	131329877	2	4	22	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	6256	8402											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379086.1_Missense_Mutation_p.D211N|P4HA2_ENST00000360568.3_Missense_Mutation_p.D211N|P4HA2_ENST00000379104.2_Missense_Mutation_p.D211N|P4HA2_ENST00000379100.2_Missense_Mutation_p.D211N|P4HA2_ENST00000166534.4_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													124	673					0	0	1	0	0	T	131546055	C	T	131546055	3	4	22	1	0	0	0	0	1	0	0	0	11404	855	30	2	1080	2	P4HA2	5	131546055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	216178	131546055	49369205	6257	8403											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	466					0	0	1	0	0	G	131667484	T	G	131667484	3	3	22	1	0	0	0	0	1	0	0	0	14511	1771	62	3	1009	3	SLC22A4	5	131667484	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	121429	131667484	49247776	6258	8404											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479605.1_3'UTR|SLC22A5_ENST00000435065.2_Missense_Mutation_p.A414D	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													74	332					2.0493e-37	2.46103e-37	1	1	0	A	131726498	C	A	131726498	3	1	22	1	0	0	0	0	1	0	0	0	14512	739	26	2	1195	2	SLC22A5	5	131726498	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59014	131726498	49188762	6259	8405											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	509					0	0	1	0	0	T	131820175	C	T	131820175	2	4	22	1	0	0	0	0	0	0	0	1	7871	639	23	1		1	IRF1	5	131820175	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93677	131820175	49095085	6260	8406											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	310					0	0	1	0	0	T	131821409	C	T	131821409	5	4	22	1	0	0	0	0	0	0	1	0	7871	811	28	2	322	2	IRF1	5	131821409	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1234	131821409	49093851	6261	8407											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					5	194					0	0	1	0	0	T	131945022	C	T	131945022	2	4	22	1	0	0	0	0	0	0	0	1	13036	776	27	1		1	RAD50	5	131945022	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123613	131945022	48970238	6262	8408											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378719.2_Missense_Mutation_p.R289H|SEPT8_ENST00000378721.4_Missense_Mutation_p.R287H|SEPT8_ENST00000378706.1_Missense_Mutation_p.R289H|SEPT8_ENST00000448933.1_Missense_Mutation_p.R229H|SEPT8_ENST00000378699.2_Missense_Mutation_p.R229H|SEPT8_ENST00000378701.1_Missense_Mutation_p.R287H|SEPT8_ENST00000458488.2_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													69	291					0	0	1	0	0	T	132097246	C	T	132097246	3	4	22	1	0	0	0	0	1	0	0	0	14124	768	27	1	656	1	SEPT8	5	132097246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152224	132097246	48818014	6263	8409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	474					1.37522e-17	1.51956e-17	1	1	0	A	132160428	C	A	132160428	4	1	22	1	0	0	0	0	0	1	0	0	14348	922	32	2	1458	2	SHROOM1	5	132160428	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63182	132160428	48754832	6264	8410											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132160764G>A	ENST00000378679.3	-	5	1784	c.978_splice	c.e5-1	p.A327_splice	SHROOM1_ENST00000378676.1_Splice_Site_p.A327_splice|SHROOM1_ENST00000319854.3_Splice_Site_p.A327_splice	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													13	416					0	0	1	0	0	A	132160764	G	A	132160764	5	1	22	1	0	0	0	0	0	0	1	0	14348	985	34	2	1602	2	SHROOM1	5	132160764	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	336	132160764	48754496	6265	8411											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	151					0	0	1	0	0	C	132160909	T	C	132160909	2	2	22	1	0	0	0	0	0	0	0	1	14348	1567	55	3		3	SHROOM1	5	132160909	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	145	132160909	48754351	6266	8412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	323					0	0	1	0	0	C	132197621	T	C	132197621	3	2	22	1	0	0	0	0	1	0	0	0	6361	1638	57	3	343	3	GDF9	5	132197621	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	36712	132197621	48717639	6267	8413											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000513848.1_Missense_Mutation_p.S121Y|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000355372.2_Missense_Mutation_p.S151Y|ZCCHC10_ENST00000509008.1_3'UTR	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													11	287					1.58986e-06	1.64048e-06	1	1	0	T	132334384	G	T	132334384	3	4	22	1	0	0	0	0	1	0	0	0	17638	942	33	2	112	2	ZCCHC10	5	132334384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136763	132334384	48580876	6268	8414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000466080.1_5'UTR|VDAC1_ENST00000395047.2_Missense_Mutation_p.T72A	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													176	711					0	0	1	0	0	C	133326749	T	C	133326749	3	2	22	1	0	0	0	0	1	0	0	0	17206	1638	57	3	661	3	VDAC1	5	133326749	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	992365	133326749	47588511	6269	8415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378560.4_Missense_Mutation_p.E49K|TCF7_ENST00000321584.4_Missense_Mutation_p.E164K|TCF7_ENST00000517478.1_3'UTR|TCF7_ENST00000432532.2_Missense_Mutation_p.E49K|TCF7_ENST00000395023.1_Missense_Mutation_p.E49K|TCF7_ENST00000321603.6_Missense_Mutation_p.E164K|TCF7_ENST00000378564.1_Missense_Mutation_p.E164K|TCF7_ENST00000342854.5_Missense_Mutation_p.E164K|TCF7_ENST00000518915.1_Missense_Mutation_p.E49K|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													85	435					0	0	1	0	0	A	133473798	G	A	133473798	3	1	22	1	0	0	0	0	1	0	0	0	15756	1059	37	1	504	1	TCF7	5	133473798	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	147049	133473798	47441462	6270	8416											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000517625.1_Missense_Mutation_p.P71L|SKP1_ENST00000522855.1_Missense_Mutation_p.P71L|SKP1_ENST00000522552.1_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													34	144					0	0	1	0	0	A	133496781	G	A	133496781	3	1	22	1	0	0	0	0	1	0	0	0	14416	1000	35	2	318	2	SKP1	5	133496781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22983	133496781	47418479	6271	8417											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000435240.2_Missense_Mutation_p.A6V|CDKL3_ENST00000435211.1_Missense_Mutation_p.A301V|CDKL3_ENST00000265334.4_Missense_Mutation_p.A301V|CDKL3_ENST00000523054.1_Missense_Mutation_p.A112V|CDKL3_ENST00000518409.1_5'UTR|CDKL3_ENST00000536186.1_Missense_Mutation_p.A6V|CDKL3_ENST00000523832.1_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													11	97					0	0	1	0	0	A	133644398	G	A	133644398	3	1	22	1	0	0	0	0	1	0	0	0	3177	971	34	2	904	2	CDKL3	5	133644398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	147617	133644398	47270862	6272	8418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402835.1_Missense_Mutation_p.E198K|PHF15_ENST00000361895.2_Missense_Mutation_p.E198K|PHF15_ENST00000282605.4_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													46	273					0	0	1	0	0	A	133896555	G	A	133896555	3	1	22	1	0	0	0	0	1	0	0	0	11874	1059	37	1	610	1	PHF15	5	133896555	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	252157	133896555	47018705	6273	8419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000509937.1_Missense_Mutation_p.L85S|SAR1B_ENST00000502539.1_Missense_Mutation_p.L85S|SAR1B_ENST00000507419.1_Missense_Mutation_p.L85S|SAR1B_ENST00000439578.1_Missense_Mutation_p.L153S	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													12	37					0	0	1	0	0	G	133944084	A	G	133944084	3	3	22	1	0	0	0	0	1	0	0	0	13893	372	13	3	146	3	SAR1B	5	133944084	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47529	133944084	46971176	6274	8420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000509937.1_5'UTR|SAR1B_ENST00000502539.1_5'UTR|SAR1B_ENST00000507419.1_5'UTR|SAR1B_ENST00000439578.1_Missense_Mutation_p.E62K	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													9	530					0	0	1	0	0	T	133948441	C	T	133948441	3	4	22	1	0	0	0	0	1	0	0	0	13893	893	31	1	428	1	SAR1B	5	133948441	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4357	133948441	46966819	6275	8421											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	436					0	0	1	0	0	T	133997159	A	T	133997159	3	4	22	1	0	0	0	0	1	0	0	0	14048	14	1	5	454	5	SEC24A	5	133997159	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48718	133997159	46918101	6276	8422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	562					0	0	1	0	0	G	134032917	T	G	134032917	4	3	22	1	0	0	0	0	0	1	0	0	14048	1500	52	3	2142	3	SEC24A	5	134032917	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35758	134032917	46882343	6277	8423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	284					0	0	1	0	0	G	134039521	A	G	134039521	3	3	22	1	0	0	0	0	1	0	0	0	14048	43	2	3	2401	3	SEC24A	5	134039521	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6604	134039521	46875739	6278	8424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	170					0	0	1	0	0	T	134154554	C	T	134154554	3	4	22	1	0	0	0	0	1	0	0	0	4387	797	28	2	2916	2	DDX46	5	134154554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115033	134154554	46760706	6279	8425											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	228					0	0	1	0	0	G	134154631	A	G	134154631	3	3	22	1	0	0	0	0	1	0	0	0	4387	43	2	3	2993	3	DDX46	5	134154631	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	77	134154631	46760629	6280	8426											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	346					0	0	1	0	0	T	134344598	C	T	134344598	3	4	22	1	0	0	0	0	1	0	0	0	2707	507	18	2	761	2	CATSPER3	5	134344598	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	189967	134344598	46570662	6281	8427											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|H2AFY_ENST00000510038.1_Intron|H2AFY_ENST00000512507.1_Intron|H2AFY_ENST00000304332.4_Intron|CTC-203F4.1_ENST00000555438.1_Intron|CTC-203F4.1_ENST00000554670.1_Silent_p.C4C|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													5	111					0	0	1	0	0	C	134686592	T	C	134686592	2	2	22	1	0	0	0	0	0	0	0	1	6970	1625	57	3		3	H2AFY	5	134686592	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	341994	134686592	46228668	6282	8428											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000312469.4_Missense_Mutation_p.S173I|H2AFY_ENST00000512507.1_5'UTR|H2AFY_ENST00000304332.4_Missense_Mutation_p.S172I	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													22	346					2.21704e-12	2.37967e-12	1	1	0	A	134696257	C	A	134696257	3	1	22	1	0	0	0	0	1	0	0	0	6970	797	28	2	715	2	H2AFY	5	134696257	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9665	134696257	46219003	6283	8429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	83					0	0	1	0	0	T	134871080	C	T	134871080	3	4	22	1	0	0	0	0	1	0	0	0	10399	893	31	1	416	1	NEUROG1	5	134871080	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174823	134871080	46044180	6284	8430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	350					0	0	1	0	0	G	135231466	A	G	135231466	3	3	22	1	0	0	0	0	1	0	0	0	7751	159	6	3	414	3	IL9	5	135231466	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	360386	135231466	45683794	6285	8431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000512872.1_5'UTR|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000522943.1_Silent_p.L59L|LECT2_ENST00000514447.2_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													55	230					0	0	1	0	0	G	135287026	A	G	135287026	2	3	22	1	0	0	0	0	0	0	0	1	8752	69	3	3		3	LECT2	5	135287026	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	55560	135287026	45628234	6286	8432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													207	911					0	0	1	0	0	G	135383056	A	G	135383056	3	3	22	1	0	0	0	0	1	0	0	0	15880	159	6	3	740	3	TGFBI	5	135383056	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	96030	135383056	45532204	6287	8433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	310					0	0	1	0	0	A	135583384	G	A	135583384	3	1	22	1	0	0	0	0	1	0	0	0	16645	1059	37	1	993	1	TRPC7	5	135583384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200328	135583384	45331876	6288	8434											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													145	726					0	0	1	0	0	T	135692925	C	T	135692925	3	4	22	1	0	0	0	0	1	0	0	0	16645	739	26	2	2481	2	TRPC7	5	135692925	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109541	135692925	45222335	6289	8435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	755					0	0	1	0	0	T	136314408	C	T	136314408	3	4	22	1	0	0	0	0	1	0	0	0	15135	797	28	2	68	2	SPOCK1	5	136314408	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	621483	136314408	44600852	6290	8436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	276					1.3466e-33	1.59697e-33	1	1	0	A	137089345	C	A	137089345	3	1	22	1	0	0	0	0	1	0	0	0	7297	912	32	2	510	2	HNRNPA0	5	137089345	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	774937	137089345	43825915	6291	8437											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	526					0	0	1	0	0	T	137089524	C	T	137089524	3	4	22	1	0	0	0	0	1	0	0	0	7297	864	30	2	689	2	HNRNPA0	5	137089524	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179	137089524	43825736	6292	8438											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508281.2_RNA|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.G120D|MYOT_ENST00000509812.1_Intron	NM_006790.2	NP_006781.1	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													90	392					0	0	1	0	0	A	137219167	G	A	137219167	3	1	22	1	0	0	0	0	1	0	0	0	10142	1261	44	2	933	2	MYOT	5	137219167	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129643	137219167	43696093	6293	8439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	102					0	0	1	0	0	A	137243502	G	A	137243502	2	1	22	1	0	0	0	0	0	0	0	1	12016	1281	45	2		2	PKD2L2	5	137243502	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24335	137243502	43671758	6294	8440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	146					0	0	1	0	0	T	137261573	C	T	137261573	2	4	22	1	0	0	0	0	0	0	0	1	12016	767	27	1		1	PKD2L2	5	137261573	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18071	137261573	43653687	6295	8441											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420893.2_Nonsense_Mutation_p.R553*|FAM13B_ENST00000425075.2_Nonsense_Mutation_p.R457*	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													90	337					0	0	1	0	0	A	137289150	G	A	137289150	4	1	22	1	0	0	0	0	0	1	0	0	5483	1066	37	1	1126	1	FAM13B	5	137289150	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27577	137289150	43626110	6296	8442											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420893.2_Missense_Mutation_p.G59R|FAM13B_ENST00000425075.2_5'UTR	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													29	452					0	0	1	0	0	T	137354186	C	T	137354186	3	4	22	1	0	0	0	0	1	0	0	0	5483	690	24	2	2722	2	FAM13B	5	137354186	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65036	137354186	43561074	6297	8443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	465					0	0	1	0	0	A	137424615	G	A	137424615	5	1	22	1	0	0	0	0	0	0	1	0	17456	1014	35	2	385	2	WNT8A	5	137424615	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70429	137424615	43490645	6298	8444											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	514					1.49884e-55	1.87369e-55	1	1	0	A	137424756	C	A	137424756	3	1	22	1	0	0	0	0	1	0	0	0	17456	564	20	2	526	2	WNT8A	5	137424756	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141	137424756	43490504	6299	8445											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	234					0	0	1	0	0	A	137525388	G	A	137525388	2	1	22	1	0	0	0	0	0	0	0	1	3083	1024	36	2		2	CDC23	5	137525388	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100632	137525388	43389872	6300	8446											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	245					0	0	1	0	0	T	137525404	C	T	137525404	3	4	22	1	0	0	0	0	1	0	0	0	3083	768	27	1	260	1	CDC23	5	137525404	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	137525404	43389856	6301	8447											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	103					0	0	1	0	0	G	137588741	T	G	137588741	3	3	22	1	0	0	0	0	1	0	0	0	6391	1838	64	3	87	3	GFRA3	5	137588741	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63337	137588741	43326519	6302	8448											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	246					0	0	1	0	0	A	137593567	G	A	137593567	2	1	22	1	0	0	0	0	0	0	0	1	6391	1140	40	1		1	GFRA3	5	137593567	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4826	137593567	43321693	6303	8449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	342					0	0	1	0	0	T	137599964	C	T	137599964	3	4	22	1	0	0	0	0	1	0	0	0	6391	536	19	1	865	1	GFRA3	5	137599964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6397	137599964	43315296	6304	8450											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434981.2_Missense_Mutation_p.S212N|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR	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													253	1236					0	0	1	0	0	A	137681012	G	A	137681012	3	1	22	1	0	0	0	0	1	0	0	0	5617	1029	36	2	645	2	FAM53C	5	137681012	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81048	137681012	43234248	6305	8451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434981.2_Missense_Mutation_p.A253V|FAM53C_ENST00000513056.1_Missense_Mutation_p.H63Y|FAM53C_ENST00000507506.1_3'UTR	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													147	577					0	0	1	0	0	T	137681135	C	T	137681135	3	4	22	1	0	0	0	0	1	0	0	0	5617	710	25	2	768	2	FAM53C	5	137681135	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123	137681135	43234125	6306	8452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394866.1_Silent_p.L1285L|KDM3B_ENST00000542866.1_Silent_p.L661L	NM_016604.3	NP_057688.2	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													36	148					8.73648e-17	9.61379e-17	1	1	0	A	137765648	C	A	137765648	2	1	22	1	0	0	0	0	0	0	0	1	8171	842	30	2		2	KDM3B	5	137765648	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84513	137765648	43149612	6307	8453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394866.1_Silent_p.H1386H|KDM3B_ENST00000542866.1_Silent_p.H762H	NM_016604.3	NP_057688.2	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													84	285					0	0	1	0	0	C	137767233	T	C	137767233	2	2	22	1	0	0	0	0	0	0	0	1	8171	1461	51	3		3	KDM3B	5	137767233	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1585	137767233	43148027	6308	8454											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	421					8.66691e-33	1.02489e-32	1	1	0	A	137801568	C	A	137801568	3	1	22	1	0	0	0	0	1	0	0	0	4997	796	28	2	120	2	EGR1	5	137801568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34335	137801568	43113692	6309	8455											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													234	1009					1.92159e-75	2.45072e-75	1	1	0	T	137802696	G	T	137802696	3	4	22	1	0	0	0	0	1	0	0	0	4997	933	33	2	564	2	EGR1	5	137802696	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1128	137802696	43112564	6310	8456											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	507					2.39556e-15	2.61601e-15	1	1	0	A	137906735	C	A	137906735	3	1	22	1	0	0	0	0	1	0	0	0	7460	680	24	2	1771	2	HSPA9	5	137906735	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104039	137906735	43008525	6311	8457											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518825.1_Missense_Mutation_p.R300H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.R197H	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													69	235					0	0	1	0	0	A	138163244	G	A	138163244	3	1	22	1	0	0	0	0	1	0	0	0	4036	1087	38	1	921	1	CTNNA1	5	138163244	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	256509	138163244	42752016	6312	8458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518825.1_Missense_Mutation_p.A363T|CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000355078.5_Missense_Mutation_p.A260T|CTNNA1_ENST00000540387.1_5'UTR	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													40	505					0	0	1	0	0	A	138221925	G	A	138221925	3	1	22	1	0	0	0	0	1	0	0	0	4036	1319	46	2	1113	2	CTNNA1	5	138221925	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58681	138221925	42693335	6313	8459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518825.1_Missense_Mutation_p.R540H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.R437H|CTNNA1_ENST00000540387.1_Missense_Mutation_p.R170H	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													29	141					0	0	1	0	0	A	138260271	G	A	138260271	3	1	22	1	0	0	0	0	1	0	0	0	4036	1087	38	1	1661	1	CTNNA1	5	138260271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38346	138260271	42654989	6314	8460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518825.1_Missense_Mutation_p.D639N|CTNNA1_ENST00000355078.5_Missense_Mutation_p.D536N|CTNNA1_ENST00000540387.1_Missense_Mutation_p.D269N	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													46	595					0	0	1	0	0	A	138264950	G	A	138264950	3	1	22	1	0	0	0	0	1	0	0	0	4036	1174	41	2	1965	2	CTNNA1	5	138264950	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4679	138264950	42650310	6315	8461											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512875.2_RNA|SIL1_ENST00000265195.5_Missense_Mutation_p.G251S|SIL1_ENST00000509534.1_Missense_Mutation_p.G258S|CTB-46B19.2_ENST00000510110.1_RNA	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				49	250					0	0	1	0	0	T	138356876	C	T	138356876	3	4	22	1	0	0	0	0	1	0	0	0	14376	623	22	2	650	2	SIL1	5	138356876	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91926	138356876	42558384	6316	8462											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394805.3_Silent_p.C296C|MATR3_ENST00000361059.2_Silent_p.C296C|MATR3_ENST00000502929.1_Silent_p.C296C|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000510056.1_Silent_p.C296C|MATR3_ENST00000509990.1_Silent_p.C296C|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000503811.1_Intron			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													169	708					0	0	1	0	0	C	138643992	T	C	138643992	2	2	22	1	0	0	0	0	0	0	0	1	9387	1702	59	3		3	MATR3	5	138643992	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	287116	138643992	42271268	6317	8463											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	65					0	0	1	0	0	A	138837382	G	A	138837382	2	1	22	1	0	0	0	0	0	0	0	1	4925	1074	38	1		1	ECSCR	5	138837382	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	193390	138837382	42077878	6318	8464											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	133					0	0	1	0	0	A	138860390	G	A	138860390	3	1	22	1	0	0	0	0	1	0	0	0	16149	1086	38	1	650	1	TMEM173	5	138860390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23008	138860390	42054870	6319	8465											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	148					0	0	1	0	0	T	138860412	C	T	138860412	4	4	22	1	0	0	0	0	0	1	0	0	16149	508	18	2	672	2	TMEM173	5	138860412	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	138860412	42054848	6320	8466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	255					0	0	1	0	0	A	139189208	G	A	139189208	2	1	22	1	0	0	0	0	0	0	0	1	12696	1045	37	1		1	PSD2	5	139189208	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	328796	139189208	41726052	6321	8467											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	168					0	0	1	0	0	G	139494240	T	G	139494240	3	3	22	1	0	0	0	0	1	0	0	0	12879	1432	50	3	476	3	PURA	5	139494240	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	305032	139494240	41421020	6322	8468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000514611.1_Intron|PFDN1_ENST00000524074.1_Missense_Mutation_p.E93A|PFDN1_ENST00000510217.1_3'UTR|CYSTM1_ENST00000509789.2_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													36	120					0	0	1	0	0	G	139661041	T	G	139661041	3	3	22	1	0	0	0	0	1	0	0	0	11803	1783	62	3	98	3	PFDN1	5	139661041	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	166801	139661041	41254219	6323	8469											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394723.3_Missense_Mutation_p.D168Y|ANKHD1_ENST00000394722.3_Missense_Mutation_p.D157Y|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D168Y|ANKHD1_ENST00000360839.2_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													87	764					9.37156e-40	1.13399e-39	1	1	0	T	139818087	G	T	139818087	3	4	22	1	0	0	0	0	1	0	0	0	624	942	33	2	512	2	ANKHD1	5	139818087	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157046	139818087	41097173	6324	8470											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.T782I|ANKHD1_ENST00000360839.2_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													86	345					0	0	1	0	0	T	139876204	C	T	139876204	3	4	22	1	0	0	0	0	1	0	0	0	624	565	20	2	2509	2	ANKHD1	5	139876204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58117	139876204	41039056	6325	8471											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000462121.1_3'UTR|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S868F|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S868F	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													13	449					0	0	1	0	0	T	139876462	C	T	139876462	3	4	22	1	0	0	0	0	1	0	0	0	624	913	32	2	2767	2	ANKHD1	5	139876462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	258	139876462	41038798	6326	8472											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000412920.3_Missense_Mutation_p.K434N|APBB3_ENST00000354402.5_Missense_Mutation_p.K443N|APBB3_ENST00000356738.2_Missense_Mutation_p.K441N|APBB3_ENST00000508496.2_Missense_Mutation_p.K213N	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													36	352					1.45844e-13	1.57644e-13	1	1	0	A	139938323	C	A	139938323	3	1	22	1	0	0	0	0	1	0	0	0	758	796	28	2	156	2	APBB3	5	139938323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61861	139938323	40976937	6327	8473											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358580.5_Missense_Mutation_p.A135V|APBB3_ENST00000412920.3_Missense_Mutation_p.A135V|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000354402.5_Missense_Mutation_p.A135V|APBB3_ENST00000511201.2_Missense_Mutation_p.A135V|APBB3_ENST00000356738.2_Missense_Mutation_p.A135V|APBB3_ENST00000508496.2_5'UTR	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													195	974					0	0	1	0	0	A	139942032	G	A	139942032	3	1	22	1	0	0	0	0	1	0	0	0	758	1319	46	2	1109	2	APBB3	5	139942032	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3709	139942032	40973228	6328	8474											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358580.5_Silent_p.I38I|APBB3_ENST00000412920.3_Silent_p.I38I|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000354402.5_Silent_p.I38I|APBB3_ENST00000511201.2_Silent_p.I38I|APBB3_ENST00000356738.2_Silent_p.I38I|APBB3_ENST00000508496.2_5'UTR	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													44	199					0	0	1	0	0	A	139943436	G	A	139943436	2	1	22	1	0	0	0	0	0	0	0	1	758	1164	41	2		2	APBB3	5	139943436	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1404	139943436	40971824	6329	8475											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SLC35A4_ENST00000323146.3_Missense_Mutation_p.R137H|APBB3_ENST00000507279.1_Intron			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													83	272					0	0	1	0	0	A	139947164	G	A	139947164	3	1	22	1	0	0	0	0	1	0	0	0	14628	1087	38	1	412	1	SLC35A4	5	139947164	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3728	139947164	40968096	6330	8476											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SLC35A4_ENST00000323146.3_Missense_Mutation_p.L191P|APBB3_ENST00000507279.1_Intron			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													129	514					0	0	1	0	0	C	139947326	T	C	139947326	3	2	22	1	0	0	0	0	1	0	0	0	14628	1551	54	3	574	3	SLC35A4	5	139947326	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	162	139947326	40967934	6331	8477											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	265					0	0	1	0	0	T	140011662	C	T	140011662	3	4	22	1	0	0	0	0	1	0	0	0	2986	884	31	1	224	1	CD14	5	140011662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64336	140011662	40903598	6332	8478											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000252100.6_Silent_p.V345V|TMCO6_ENST00000537378.1_Silent_p.V99V	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													81	309					6.86016e-32	8.08805e-32	1	1	0	T	140023463	G	T	140023463	2	4	22	1	0	0	0	0	0	0	0	1	16060	1335	47	2		2	TMCO6	5	140023463	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11801	140023463	40891797	6333	8479											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	242					8.86878e-18	9.80954e-18	1	1	0	T	140040342	G	T	140040342	5	4	22	1	0	0	0	0	0	0	1	0	7652	1014	35	2	1417	2	IK	5	140040342	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16879	140040342	40874918	6334	8480											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_060176.2	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													66	296					0	0	1	0	0	A	140048517	G	A	140048517	3	1	22	1	0	0	0	0	1	0	0	0	17367	1116	39	1	620	1	WDR55	5	140048517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8175	140048517	40866743	6335	8481											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_060176.2	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													23	120					1.12875e-08	1.18168e-08	1	1	0	A	140049193	C	A	140049193	3	1	22	1	0	0	0	0	1	0	0	0	17367	855	30	2	1132	2	WDR55	5	140049193	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	676	140049193	40866067	6336	8482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457527.2_Silent_p.G238G|HARS_ENST00000415192.2_Silent_p.G184G|HARS_ENST00000438307.2_Silent_p.G218G|HARS_ENST00000307633.3_Silent_p.G198G|HARS_ENST00000448240.1_Silent_p.G63G|HARS_ENST00000504156.1_Silent_p.G258G|HARS_ENST00000431330.2_Silent_p.G144G			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													85	439					0	0	1	0	0	A	140056961	G	A	140056961	2	1	22	1	0	0	0	0	0	0	0	1	7000	1190	42	2		2	HARS	5	140056961	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7768	140056961	40858299	6337	8483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													138	562					2.49262e-74	3.17562e-74	1	1	0	T	140167711	G	T	140167711	3	4	22	1	0	0	0	0	1	0	0	0	11566	962	34	2	1838	2	PCDHA1	5	140167711	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110750	140167711	40747549	6338	8484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A427T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_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													171	717					0	0	1	0	0	A	140175828	G	A	140175828	3	1	22	1	0	0	0	0	1	0	0	0	11571	1087	38	1	1281	1	PCDHA2	5	140175828	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8117	140175828	40739432	6339	8485											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.A454A|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_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													126	555					0	0	1	0	0	A	140175911	G	A	140175911	2	1	22	1	0	0	0	0	0	0	0	1	11571	1132	40	1		1	PCDHA2	5	140175911	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83	140175911	40739349	6340	8486											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.P469P|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_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													140	536					0	0	1	0	0	A	140175956	G	A	140175956	2	1	22	1	0	0	0	0	0	0	0	1	11571	1074	38	1		1	PCDHA2	5	140175956	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	140175956	40739304	6341	8487											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.P543P|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_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													137	578					0	0	1	0	0	A	140176178	G	A	140176178	2	1	22	1	0	0	0	0	0	0	0	1	11571	1074	38	1		1	PCDHA2	5	140176178	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222	140176178	40739082	6342	8488											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P582L|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_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													117	505					0	0	1	0	0	T	140176294	C	T	140176294	3	4	22	1	0	0	0	0	1	0	0	0	11571	652	23	1	1747	1	PCDHA2	5	140176294	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116	140176294	40738966	6343	8489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E729K|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_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													135	541					0	0	1	0	0	A	140176734	G	A	140176734	3	1	22	1	0	0	0	0	1	0	0	0	11571	1059	37	1	2187	1	PCDHA2	5	140176734	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	440	140176734	40738526	6344	8490											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S509L|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)			AGCTACGTGTCGGTACACGCG	0.697													170	736					0	0	1	0	0	T	140182308	C	T	140182308	3	4	22	1	0	0	0	0	1	0	0	0	11572	893	31	1	1528	1	PCDHA3	5	140182308	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5574	140182308	40732952	6345	8491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.I368V|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.I368V|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	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													111	439					0	0	1	0	0	G	140202462	A	G	140202462	3	3	22	1	0	0	0	0	1	0	0	0	11574	217	8	3	1104	3	PCDHA5	5	140202462	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20154	140202462	40712798	6346	8492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.A455A|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.A455A|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	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													28	736					0	0	1	0	0	A	140202725	G	A	140202725	2	1	22	1	0	0	0	0	0	0	0	1	11574	1074	38	1		1	PCDHA5	5	140202725	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263	140202725	40712535	6347	8493											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.S748S|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.S748S|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	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													68	254					0	0	1	0	0	A	140203604	G	A	140203604	2	1	22	1	0	0	0	0	0	0	0	1	11574	1132	40	1		1	PCDHA5	5	140203604	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	879	140203604	40711656	6348	8494											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.P394P|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.1|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													25	1243					0	0	1	0	0	C	140208858	T	C	140208858	2	2	22	1	0	0	0	0	0	0	0	1	11575	1596	56	3		3	PCDHA6	5	140208858	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5254	140208858	40706402	6349	8495											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.V323V|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_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													64	269					0	0	1	0	0	T	140214937	C	T	140214937	2	4	22	1	0	0	0	0	0	0	0	1	11576	871	31	1		1	PCDHA7	5	140214937	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6079	140214937	40700323	6350	8496											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E253K|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_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													40	331					0	0	1	0	0	A	140221663	G	A	140221663	3	1	22	1	0	0	0	0	1	0	0	0	11577	1059	37	1	759	1	PCDHA8	5	140221663	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6726	140221663	40693597	6351	8497											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A482T|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_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													112	582					0	0	1	0	0	A	140222350	G	A	140222350	3	1	22	1	0	0	0	0	1	0	0	0	11577	1087	38	1	1446	1	PCDHA8	5	140222350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	687	140222350	40692910	6352	8498											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.D447N|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_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													85	727					0	0	1	0	0	A	140229419	G	A	140229419	3	1	22	1	0	0	0	0	1	0	0	0	11578	1058	37	1	1341	1	PCDHA9	5	140229419	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7069	140229419	40685841	6353	8499											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.D483G|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_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													157	647					0	0	1	0	0	G	140229528	A	G	140229528	3	3	22	1	0	0	0	0	1	0	0	0	11578	275	10	3	1450	3	PCDHA9	5	140229528	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	109	140229528	40685732	6354	8500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.R569Q|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_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													130	600					0	0	1	0	0	A	140229786	G	A	140229786	3	1	22	1	0	0	0	0	1	0	0	0	11578	1116	39	1	1708	1	PCDHA9	5	140229786	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	258	140229786	40685474	6355	8501											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.E610K|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_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													126	475					0	0	1	0	0	A	140229908	G	A	140229908	3	1	22	1	0	0	0	0	1	0	0	0	11578	1059	37	1	1830	1	PCDHA9	5	140229908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122	140229908	40685352	6356	8502											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A22S|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														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													113	471					4.98428e-49	6.16141e-49	1	1	0	T	140235697	G	T	140235697	3	4	22	1	0	0	0	0	1	0	0	0	11567	971	34	2	66	2	PCDHA10	5	140235697	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5789	140235697	40679563	6357	8503											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V335I|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														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													111	444					0	0	1	0	0	A	140236636	G	A	140236636	3	1	22	1	0	0	0	0	1	0	0	0	11567	1261	44	2	1005	2	PCDHA10	5	140236636	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	939	140236636	40678624	6358	8504											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														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													134	636					0	0	1	0	0	T	140237244	C	T	140237244	2	4	22	1	0	0	0	0	0	0	0	1	11567	755	27	1		1	PCDHA10	5	140237244	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	608	140237244	40678016	6359	8505											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														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													85	319					0	0	1	0	0	A	140237378	G	A	140237378	3	1	22	1	0	0	0	0	1	0	0	0	11567	1116	39	1	1747	1	PCDHA10	5	140237378	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134	140237378	40677882	6360	8506											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_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													223	915					0	0	1	0	0	A	140249981	G	A	140249981	2	1	22	1	0	0	0	0	0	0	0	1	11568	1074	38	1		1	PCDHA11	5	140249981	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12603	140249981	40665279	6361	8507											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018903.2|NM_031864.1	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													53	1374					0	0	1	0	0	A	140255355	G	A	140255355	3	1	22	1	0	0	0	0	1	0	0	0	11569	1087	38	1	300	1	PCDHA12	5	140255355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5374	140255355	40659905	6362	8508											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018903.2|NM_031864.1	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													209	866					0	0	1	0	0	A	140256686	G	A	140256686	2	1	22	1	0	0	0	0	0	0	0	1	11569	1074	38	1		1	PCDHA12	5	140256686	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1331	140256686	40658574	6363	8509											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R56H|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_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													41	174					0	0	1	0	0	A	140306644	G	A	140306644	3	1	22	1	0	0	0	0	1	0	0	0	11579	1087	38	1	169	1	PCDHAC1	5	140306644	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49958	140306644	40608616	6364	8510											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000409700.3_Silent_p.R193R|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_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													13	358					0	0	1	0	0	T	140307056	C	T	140307056	2	4	22	1	0	0	0	0	0	0	0	1	11579	755	27	1		1	PCDHAC1	5	140307056	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	412	140307056	40608204	6365	8511											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E617D|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_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													86	384					6.16549e-39	7.44507e-39	1	1	0	T	140308328	G	T	140308328	3	4	22	1	0	0	0	0	1	0	0	0	11579	962	34	2	1853	2	PCDHAC1	5	140308328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1272	140308328	40606932	6366	8512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	285					0	0	1	0	0	A	140431091	G	A	140431091	2	1	22	1	0	0	0	0	0	0	0	1	11581	1194	42	2		2	PCDHB1	5	140431091	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122763	140431091	40484169	6367	8513											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	313					0	0	1	0	0	C	140431560	A	C	140431560	3	2	22	1	0	0	0	0	1	0	0	0	11581	246	9	3	507	3	PCDHB1	5	140431560	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	469	140431560	40483700	6368	8514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	407					0	0	1	0	0	A	140432001	G	A	140432001	3	1	22	1	0	0	0	0	1	0	0	0	11581	1058	37	1	948	1	PCDHB1	5	140432001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	441	140432001	40483259	6369	8515											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	251					0	0	1	0	0	A	140475112	G	A	140475112	2	1	22	1	0	0	0	0	0	0	0	1	11589	962	34	2		2	PCDHB2	5	140475112	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43111	140475112	40440148	6370	8516											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	1145					0	0	1	0	0	A	140475722	G	A	140475722	3	1	22	1	0	0	0	0	1	0	0	0	11589	1087	38	1	1350	1	PCDHB2	5	140475722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	610	140475722	40439538	6371	8517											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													176	971					0	0	1	0	0	T	140475757	C	T	140475757	2	4	22	1	0	0	0	0	0	0	0	1	11589	883	31	1		1	PCDHB2	5	140475757	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	140475757	40439503	6372	8518											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	278					0	0	1	0	0	G	140480291	T	G	140480291	3	3	22	1	0	0	0	0	1	0	0	0	11590	1841	64	3	60	3	PCDHB3	5	140480291	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4534	140480291	40434969	6373	8519											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	300					0	0	1	0	0	A	140480933	G	A	140480933	3	1	22	1	0	0	0	0	1	0	0	0	11590	942	33	2	702	2	PCDHB3	5	140480933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	642	140480933	40434327	6374	8520											
PCDHB3	0	broad.mit.edu	37	chr5	140481073	140481074	+	Frame_Shift_Ins	INS	-	-	T													ttgggacaatatcatatgcaINSttttttcatgcttctgaaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140481073_140481074insT	ENST00000231130.2	+	1	840_841	c.840_841insT	c.(838-843)gcttttfs	p.AF280fs	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		280	Cadherin 3.				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)			TATCATATGCATTTTTTCATGC	0.366													70	348	---	---	---	---						T	140481074	-	T	140481073	7	5	22	1	0	1	1	0	0	0	0	0	11590	204	8	0	842	0	PCDHB3	5	140481073	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	140	140481073	40434187	6375	8521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													190	921					0	0	1	0	0	T	140482389	C	T	140482389	3	4	22	1	0	0	0	0	1	0	0	0	11590	768	27	1	2158	1	PCDHB3	5	140482389	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1316	140482389	40432871	6376	8522											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	561					0	0	1	0	0	A	140503186	G	A	140503186	3	1	22	1	0	0	0	0	1	0	0	0	11591	1116	39	1	1608	1	PCDHB4	5	140503186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20797	140503186	40412074	6377	8523											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	582					3.36245e-48	4.14781e-48	1	1	0	T	140503392	G	T	140503392	3	4	22	1	0	0	0	0	1	0	0	0	11591	962	34	2	1814	2	PCDHB4	5	140503392	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	206	140503392	40411868	6378	8524											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	456					0	0	1	0	0	G	140515588	A	G	140515588	3	3	22	1	0	0	0	0	1	0	0	0	11592	391	14	3	574	3	PCDHB5	5	140515588	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12196	140515588	40399672	6379	8525											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													212	888					0	0	1	0	0	A	140516480	G	A	140516480	2	1	22	1	0	0	0	0	0	0	0	1	11592	1074	38	1		1	PCDHB5	5	140516480	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	892	140516480	40398780	6380	8526											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													210	864					0	0	1	0	0	A	140516509	G	A	140516509	3	1	22	1	0	0	0	0	1	0	0	0	11592	1087	38	1	1495	1	PCDHB5	5	140516509	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29	140516509	40398751	6381	8527											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	698					0	0	1	0	0	A	140516822	G	A	140516822	2	1	22	1	0	0	0	0	0	0	0	1	11592	1132	40	1		1	PCDHB5	5	140516822	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	313	140516822	40398438	6382	8528											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	1221					0	0	1	0	0	A	140517107	G	A	140517107	2	1	22	1	0	0	0	0	0	0	0	1	11592	1132	40	1		1	PCDHB5	5	140517107	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	285	140517107	40398153	6383	8529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													203	1099					0	0	1	0	0	T	140517233	C	T	140517233	2	4	22	1	0	0	0	0	0	0	0	1	11592	767	27	1		1	PCDHB5	5	140517233	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126	140517233	40398027	6384	8530											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	947					0	0	1	0	0	A	140530394	G	A	140530394	3	1	22	1	0	0	0	0	1	0	0	0	11593	1059	37	1	558	1	PCDHB6	5	140530394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13161	140530394	40384866	6385	8531											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	413					0	0	1	0	0	T	140530486	C	T	140530486	2	4	22	1	0	0	0	0	0	0	0	1	11593	755	27	1		1	PCDHB6	5	140530486	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92	140530486	40384774	6386	8532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													151	670					1.73214e-63	2.18662e-63	1	1	0	A	140531016	C	A	140531016	3	1	22	1	0	0	0	0	1	0	0	0	11593	681	24	2	1180	2	PCDHB6	5	140531016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	530	140531016	40384244	6387	8533											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													185	848					3.14303e-62	3.96095e-62	1	1	0	T	140531873	G	T	140531873	3	4	22	1	0	0	0	0	1	0	0	0	11593	971	34	2	2037	2	PCDHB6	5	140531873	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	857	140531873	40383387	6388	8534											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	309					0	0	1	0	0	T	140553378	C	T	140553378	3	4	22	1	0	0	0	0	1	0	0	0	11594	739	26	2	964	2	PCDHB7	5	140553378	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21505	140553378	40361882	6389	8535											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													141	711					0	0	1	0	0	T	140553895	C	T	140553895	2	4	22	1	0	0	0	0	0	0	0	1	11594	610	22	2		2	PCDHB7	5	140553895	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	517	140553895	40361365	6390	8536											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	485					0	0	1	0	0	A	140554076	G	A	140554076	3	1	22	1	0	0	0	0	1	0	0	0	11594	1087	38	1	1662	1	PCDHB7	5	140554076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181	140554076	40361184	6391	8537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	1062					0	0	1	0	0	T	140554408	C	T	140554408	2	4	22	1	0	0	0	0	0	0	0	1	11594	535	19	1		1	PCDHB7	5	140554408	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	332	140554408	40360852	6392	8538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	1201					3.70931e-20	4.15183e-20	1	1	0	A	140554677	C	A	140554677	3	1	22	1	0	0	0	0	1	0	0	0	11594	565	20	2	2263	2	PCDHB7	5	140554677	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	269	140554677	40360583	6393	8539											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	906					0	0	1	0	0	A	140554707	T	A	140554707	3	1	22	1	0	0	0	0	1	0	0	0	11594	1841	64	5	2293	5	PCDHB7	5	140554707	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30	140554707	40360553	6394	8540											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													167	1595					0	0	1	0	0	A	140558420	G	A	140558420	3	1	22	1	0	0	0	0	1	0	0	0	11595	1174	41	2	807	2	PCDHB8	5	140558420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3713	140558420	40356840	6395	8541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													168	1741					0	0	1	0	0	T	140558931	C	T	140558931	3	4	22	1	0	0	0	0	1	0	0	0	11595	507	18	2	1318	2	PCDHB8	5	140558931	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	511	140558931	40356329	6396	8542											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	643					0	0	1	0	0	A	140559326	G	A	140559326	3	1	22	1	0	0	0	0	1	0	0	0	11595	1087	38	1	1713	1	PCDHB8	5	140559326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	395	140559326	40355934	6397	8543											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	520					3.36637e-57	4.21541e-57	1	1	0	T	140559622	G	T	140559622	3	4	22	1	0	0	0	0	1	0	0	0	11595	962	34	2	2009	2	PCDHB8	5	140559622	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	296	140559622	40355638	6398	8544											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													140	498					0	0	1	0	0	A	140573455	G	A	140573455	3	1	22	1	0	0	0	0	1	0	0	0	11582	1145	40	1	1332	1	PCDHB10	5	140573455	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13833	140573455	40341805	6399	8545											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	603					0	0	1	0	0	A	140573467	G	A	140573467	3	1	22	1	0	0	0	0	1	0	0	0	11582	1087	38	1	1344	1	PCDHB10	5	140573467	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12	140573467	40341793	6400	8546											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	165					8.16033e-55	1.01916e-54	1	1	0	A	140574052	C	A	140574052	3	1	22	1	0	0	0	0	1	0	0	0	11582	797	28	2	1929	2	PCDHB10	5	140574052	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	585	140574052	40341208	6401	8547											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													134	589					7.51503e-75	9.57856e-75	1	1	0	A	140590474	C	A	140590474	2	1	22	1	0	0	0	0	0	0	0	1	11584	784	28	2		2	PCDHB12	5	140590474	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16422	140590474	40324786	6402	8548											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													145	760					0	0	1	0	0	G	140590692	A	G	140590692	3	3	22	1	0	0	0	0	1	0	0	0	11584	275	10	3	2215	3	PCDHB12	5	140590692	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	218	140590692	40324568	6403	8549											
PCDHB13	0	broad.mit.edu	37	chr5	140593739	140593739	+	Frame_Shift_Del	DEL	T	T	-													ttgcagacaaaggcaagtccTtttttcctttctccttttgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140593739delT	ENST00000341948.4	+	1	231	c.44delT	c.(43-45)ctfs	p.L15fs		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		15					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)			AGGCAAGTCCTTTTTTCCTTT	0.532													30	148	---	---	---	---						-	140593739	T	-	140593739	7	5	22	1	0	1	0	1	0	0	0	0	11585	1609	56	0	46	0	PCDHB13	5	140593739	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	3047	140593739	40321521	6404	8550											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													142	714					7.45053e-56	9.31899e-56	1	1	0	A	140595695	C	A	140595695	3	1	22	1	0	0	0	0	1	0	0	0	11585	855	30	2	2002	2	PCDHB13	5	140595695	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1956	140595695	40319565	6405	8551											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	979					0	0	1	0	0	T	140595716	C	T	140595716	3	4	22	1	0	0	0	0	1	0	0	0	11585	652	23	1	2023	1	PCDHB13	5	140595716	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21	140595716	40319544	6406	8552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	283					0	0	1	0	0	C	140603244	T	C	140603244	3	2	22	1	0	0	0	0	1	0	0	0	11586	1696	59	3	169	3	PCDHB14	5	140603244	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7528	140603244	40312016	6407	8553											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													134	523					0	0	1	0	0	C	140603489	A	C	140603489	3	2	22	1	0	0	0	0	1	0	0	0	11586	101	4	3	414	3	PCDHB14	5	140603489	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	245	140603489	40311771	6408	8554											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													255	955					0	0	1	0	0	T	140604406	C	T	140604406	2	4	22	1	0	0	0	0	0	0	0	1	11586	535	19	1		1	PCDHB14	5	140604406	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	917	140604406	40310854	6409	8555											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	734					1.8615e-32	2.19839e-32	1	1	0	T	140604652	G	T	140604652	3	4	22	1	0	0	0	0	1	0	0	0	11586	991	35	2	1577	2	PCDHB14	5	140604652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	246	140604652	40310608	6410	8556											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	446					0	0	1	0	0	T	140604719	C	T	140604719	3	4	22	1	0	0	0	0	1	0	0	0	11586	768	27	1	1644	1	PCDHB14	5	140604719	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67	140604719	40310541	6411	8557											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	332					1.02947e-67	1.30449e-67	1	1	0	T	140605012	G	T	140605012	3	4	22	1	0	0	0	0	1	0	0	0	11586	991	35	2	1937	2	PCDHB14	5	140605012	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	293	140605012	40310248	6412	8558											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	246					0	0	1	0	0	C	140625193	T	C	140625193	3	2	22	1	0	0	0	0	1	0	0	0	11587	1493	52	3	49	3	PCDHB15	5	140625193	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20181	140625193	40290067	6413	8559											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	747					3.33186e-49	4.11995e-49	1	1	0	A	140627157	C	A	140627157	3	1	22	1	0	0	0	0	1	0	0	0	11587	680	24	2	2013	2	PCDHB15	5	140627157	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1964	140627157	40288103	6414	8560											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													162	611					0	0	1	0	0	G	140627467	T	G	140627467	3	3	22	1	0	0	0	0	1	0	0	0	11587	1493	52	3	2323	3	PCDHB15	5	140627467	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	310	140627467	40287793	6415	8561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	541					0	0	1	0	0	T	140682987	C	T	140682987	3	4	22	1	0	0	0	0	1	0	0	0	14537	797	28	2	463	2	SLC25A2	5	140682987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55520	140682987	40232273	6416	8562											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													138	619					0	0	1	0	0	A	140683056	G	A	140683056	3	1	22	1	0	0	0	0	1	0	0	0	14537	1232	43	2	532	2	SLC25A2	5	140683056	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69	140683056	40232204	6417	8563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	642					0	0	1	0	0	T	140683087	C	T	140683087	3	4	22	1	0	0	0	0	1	0	0	0	14537	768	27	1	563	1	SLC25A2	5	140683087	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	140683087	40232173	6418	8564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	462					0	0	1	0	0	T	140719048	C	T	140719048	2	4	22	1	0	0	0	0	0	0	0	1	11601	547	19	1		1	PCDHGA2	5	140719048	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35961	140719048	40196212	6419	8565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	926					0	0	1	0	0	T	140719530	C	T	140719530	3	4	22	1	0	0	0	0	1	0	0	0	11601	768	27	1	994	1	PCDHGA2	5	140719530	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	482	140719530	40195730	6420	8566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	392					0	0	1	0	0	A	140719676	G	A	140719676	3	1	22	1	0	0	0	0	1	0	0	0	11601	1087	38	1	1140	1	PCDHGA2	5	140719676	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146	140719676	40195584	6421	8567											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													194	868					0	0	1	0	0	A	140720594	G	A	140720594	3	1	22	1	0	0	0	0	1	0	0	0	11601	1058	37	1	2058	1	PCDHGA2	5	140720594	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	918	140720594	40194666	6422	8568											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	1090					0	0	1	0	0	T	140720625	C	T	140720625	3	4	22	1	0	0	0	0	1	0	0	0	11601	768	27	1	2089	1	PCDHGA2	5	140720625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	140720625	40194635	6423	8569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													152	644					0	0	1	0	0	T	140720708	C	T	140720708	2	4	22	1	0	0	0	0	0	0	0	1	11601	680	24	2		2	PCDHGA2	5	140720708	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83	140720708	40194552	6424	8570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	365					6.86016e-32	8.08805e-32	1	1	0	A	140724186	C	A	140724186	3	1	22	1	0	0	0	0	1	0	0	0	11602	796	28	2	588	2	PCDHGA3	5	140724186	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3478	140724186	40191074	6425	8571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	272					0	0	1	0	0	C	140724569	T	C	140724569	2	2	22	1	0	0	0	0	0	0	0	1	11602	1461	51	3		3	PCDHGA3	5	140724569	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	383	140724569	40190691	6426	8572											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	385					0	0	1	0	0	T	140724707	C	T	140724707	2	4	22	1	0	0	0	0	0	0	0	1	11602	874	31	1		1	PCDHGA3	5	140724707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138	140724707	40190553	6427	8573											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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)			ATCAATACTTCTCTCTGTCAA	0.443													104	1048					9.01214e-43	1.09842e-42	1	1	0	A	140730352	C	A	140730352	3	1	22	1	0	0	0	0	1	0	0	0	11609	912	32	2	527	2	PCDHGB1	5	140730352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5645	140730352	40184908	6428	8574											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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)			ATTATTACAAGCTGGTGATTG	0.478													26	106					0	0	1	0	0	A	140731024	G	A	140731024	2	1	22	1	0	0	0	0	0	0	0	1	11609	962	34	2		2	PCDHGB1	5	140731024	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	672	140731024	40184236	6429	8575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_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													50	488					0	0	1	0	0	A	140731436	G	A	140731436	3	1	22	1	0	0	0	0	1	0	0	0	11609	1087	38	1	1611	1	PCDHGB1	5	140731436	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	412	140731436	40183824	6430	8576											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTGGATTCTATGACATAG	0.438													29	87					0	0	1	0	0	T	140735709	C	T	140735709	2	4	22	1	0	0	0	0	0	0	0	1	11603	912	32	2		2	PCDHGA4	5	140735709	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4273	140735709	40179551	6431	8577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_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													32	156					0	0	1	0	0	T	140741634	C	T	140741634	2	4	22	1	0	0	0	0	0	0	0	1	11610	871	31	1		1	PCDHGB2	5	140741634	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5925	140741634	40173626	6432	8578											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_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													168	637					0	0	1	0	0	T	140746123	C	T	140746123	2	4	22	1	0	0	0	0	0	0	0	1	11604	755	27	1		1	PCDHGA5	5	140746123	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4489	140746123	40169137	6433	8579											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_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													92	396					0	0	1	0	0	T	140751489	C	T	140751489	3	4	22	1	0	0	0	0	1	0	0	0	11611	759	27	1	1530	1	PCDHGB3	5	140751489	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5366	140751489	40163771	6434	8580											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_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													127	663					0	0	1	0	0	T	140754632	C	T	140754632	4	4	22	1	0	0	0	0	0	1	0	0	11605	876	31	1	984	1	PCDHGA6	5	140754632	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3143	140754632	40160628	6435	8581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_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													122	484					0	0	1	0	0	T	140754948	C	T	140754948	3	4	22	1	0	0	0	0	1	0	0	0	11605	913	32	2	1300	2	PCDHGA6	5	140754948	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	316	140754948	40160312	6436	8582											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_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													222	908					0	0	1	0	0	T	140755255	C	T	140755255	2	4	22	1	0	0	0	0	0	0	0	1	11605	767	27	1		1	PCDHGA6	5	140755255	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	307	140755255	40160005	6437	8583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_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													24	428					0	0	1	0	0	T	140764319	C	T	140764319	3	4	22	1	0	0	0	0	1	0	0	0	11606	768	27	1	1855	1	PCDHGA7	5	140764319	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9064	140764319	40150941	6438	8584											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_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)			TCGGGAGGAGCTCTGCGCTCA	0.517													75	336					2.49587e-40	3.02561e-40	1	1	0	A	140772663	C	A	140772663	3	1	22	1	0	0	0	0	1	0	0	0	11607	797	28	2	285	2	PCDHGA8	5	140772663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8344	140772663	40142597	6439	8585											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_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)			GACAGAGACTCGGGCCAGAAC	0.711													80	433					0	0	1	0	0	T	140774173	C	T	140774173	3	4	22	1	0	0	0	0	1	0	0	0	11607	893	31	1	1795	1	PCDHGA8	5	140774173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1510	140774173	40141087	6440	8586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_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													54	242					0	0	1	0	0	A	140783171	G	A	140783171	3	1	22	1	0	0	0	0	1	0	0	0	11608	1116	39	1	654	1	PCDHGA9	5	140783171	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8998	140783171	40132089	6441	8587											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_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													97	480					9.45097e-43	1.15162e-42	1	1	0	A	140783390	C	A	140783390	3	1	22	1	0	0	0	0	1	0	0	0	11608	796	28	2	873	2	PCDHGA9	5	140783390	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219	140783390	40131870	6442	8588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_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													90	423					4.4782e-45	5.48732e-45	1	1	0	A	140784352	C	A	140784352	2	1	22	1	0	0	0	0	0	0	0	1	11608	581	21	2		2	PCDHGA9	5	140784352	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	962	140784352	40130908	6443	8589											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_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													79	303					0	0	1	0	0	T	140784497	C	T	140784497	3	4	22	1	0	0	0	0	1	0	0	0	11608	797	28	2	1980	2	PCDHGA9	5	140784497	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145	140784497	40130763	6444	8590											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_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													67	332					0	0	1	0	0	G	140784890	T	G	140784890	3	3	22	1	0	0	0	0	1	0	0	0	11608	1838	64	3	2373	3	PCDHGA9	5	140784890	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	393	140784890	40130370	6445	8591											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_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)			AGCGTAGACGCGGAGAGCGGG	0.532													124	462					0	0	1	0	0	T	140788005	C	T	140788005	3	4	22	1	0	0	0	0	1	0	0	0	11614	768	27	1	238	1	PCDHGB6	5	140788005	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3115	140788005	40127255	6446	8592											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_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)			TCTGGGTCCTGACGGCTCCGC	0.652													39	109					0	0	1	0	0	A	140789477	G	A	140789477	3	1	22	1	0	0	0	0	1	0	0	0	11614	1290	45	2	1710	2	PCDHGB6	5	140789477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1472	140789477	40125783	6447	8593											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_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													24	883					0	0	1	0	0	T	140792997	C	T	140792997	2	4	22	1	0	0	0	0	0	0	0	1	11598	767	27	1		1	PCDHGA10	5	140792997	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3520	140792997	40122263	6448	8594											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_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													51	205					0	0	1	0	0	A	140793471	G	A	140793471	2	1	22	1	0	0	0	0	0	0	0	1	11598	1074	38	1		1	PCDHGA10	5	140793471	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	474	140793471	40121789	6449	8595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_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													73	373					0	0	1	0	0	G	140798805	A	G	140798805	3	3	22	1	0	0	0	0	1	0	0	0	11615	159	6	3	1381	3	PCDHGB7	5	140798805	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5334	140798805	40116455	6450	8596											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_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													49	233					2.77807e-22	3.14147e-22	1	1	0	A	140799067	C	A	140799067	3	1	22	1	0	0	0	0	1	0	0	0	11615	738	26	2	1643	2	PCDHGB7	5	140799067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262	140799067	40116193	6451	8597											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_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													52	233					1.07234e-20	1.20343e-20	1	1	0	A	140799113	C	A	140799113	3	1	22	1	0	0	0	0	1	0	0	0	11615	796	28	2	1689	2	PCDHGB7	5	140799113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46	140799113	40116147	6452	8598											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.D540G|PCDHGA2_ENST00000394576.2_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													236	1108					0	0	1	0	0	G	140802413	A	G	140802413	3	3	22	1	0	0	0	0	1	0	0	0	11599	275	10	3	1621	3	PCDHGA11	5	140802413	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3300	140802413	40112847	6453	8599											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_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													116	592					1.20412e-61	1.51656e-61	1	1	0	A	140810381	C	A	140810381	3	1	22	1	0	0	0	0	1	0	0	0	11600	681	24	2	57	2	PCDHGA12	5	140810381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7968	140810381	40104879	6454	8600											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_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													23	437					0	0	1	0	0	T	140811072	C	T	140811072	3	4	22	1	0	0	0	0	1	0	0	0	11600	768	27	1	748	1	PCDHGA12	5	140811072	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	691	140811072	40104188	6455	8601											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_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													88	359					0	0	1	0	0	T	140811102	C	T	140811102	3	4	22	1	0	0	0	0	1	0	0	0	11600	536	19	1	778	1	PCDHGA12	5	140811102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30	140811102	40104158	6456	8602											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_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													36	1076					6.90743e-12	7.39364e-12	1	1	0	A	140812391	C	A	140812391	3	1	22	1	0	0	0	0	1	0	0	0	11600	681	24	2	2067	2	PCDHGA12	5	140812391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1289	140812391	40102869	6457	8603											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_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													63	283					0	0	1	0	0	T	140856674	C	T	140856674	3	4	22	1	0	0	0	0	1	0	0	0	11616	855	30	2	993	2	PCDHGC3	5	140856674	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44283	140856674	40058586	6458	8604											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_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													49	175					0	0	1	0	0	T	140856829	C	T	140856829	2	4	22	1	0	0	0	0	0	0	0	1	11616	755	27	1		1	PCDHGC3	5	140856829	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	140856829	40058431	6459	8605											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_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													50	237					9.40368e-32	1.10827e-31	1	1	0	A	140867053	C	A	140867053	2	1	22	1	0	0	0	0	0	0	0	1	11617	784	28	2		2	PCDHGC4	5	140867053	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10224	140867053	40048207	6460	8606											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_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													192	1011					0	0	1	0	0	T	140870231	C	T	140870231	3	4	22	1	0	0	0	0	1	0	0	0	11618	565	20	2	1426	2	PCDHGC5	5	140870231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3178	140870231	40045029	6461	8607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_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													63	252					0	0	1	0	0	A	140870737	G	A	140870737	3	1	22	1	0	0	0	0	1	0	0	0	11618	1261	44	2	1932	2	PCDHGC5	5	140870737	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	506	140870737	40044523	6462	8608											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_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													163	827					2.03036e-78	2.59325e-78	1	1	0	A	140870861	C	A	140870861	3	1	22	1	0	0	0	0	1	0	0	0	11618	681	24	2	2056	2	PCDHGC5	5	140870861	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124	140870861	40044399	6463	8609											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518047.1_Missense_Mutation_p.R1207H|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R1211H|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R1210H|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R1195H|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R1219H|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													77	322					0	0	1	0	0	T	140903715	C	T	140903715	3	4	22	1	0	0	0	0	1	0	0	0	4546	536	19	1	170	1	DIAPH1	5	140903715	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32854	140903715	40011545	6464	8610											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000494967.1_5'UTR|DIAPH1_ENST00000518047.1_Missense_Mutation_p.K818N|DIAPH1_ENST00000398566.3_Missense_Mutation_p.K822N|DIAPH1_ENST00000389057.5_Missense_Mutation_p.K821N|DIAPH1_ENST00000398562.2_Missense_Mutation_p.K806N|DIAPH1_ENST00000398557.4_Missense_Mutation_p.K830N|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													58	254					1.14385e-22	1.29604e-22	1	1	0	A	140913993	C	A	140913993	3	1	22	1	0	0	0	0	1	0	0	0	4546	680	24	2	1368	2	DIAPH1	5	140913993	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10278	140913993	40001267	6465	8611											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518047.1_Missense_Mutation_p.A180T|DIAPH1_ENST00000398566.3_Missense_Mutation_p.A180T|DIAPH1_ENST00000389057.5_Missense_Mutation_p.A180T|DIAPH1_ENST00000398562.2_Missense_Mutation_p.A180T|DIAPH1_ENST00000398557.4_Missense_Mutation_p.A189T|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													143	552					0	0	1	0	0	T	140962828	C	T	140962828	3	4	22	1	0	0	0	0	1	0	0	0	4546	739	26	2	3345	2	DIAPH1	5	140962828	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48835	140962828	39952432	6466	8612											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000513878.1_Missense_Mutation_p.R674H|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.R843H	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													136	532					0	0	1	0	0	T	141041335	C	T	141041335	3	4	22	1	0	0	0	0	1	0	0	0	837	768	27	1	1651	1	ARAP3	5	141041335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78507	141041335	39873925	6467	8613											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000513878.1_Missense_Mutation_p.G487S|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.G727S	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													20	95					0	0	1	0	0	T	141046090	C	T	141046090	3	4	22	1	0	0	0	0	1	0	0	0	837	594	21	2	2229	2	ARAP3	5	141046090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4755	141046090	39869170	6468	8614											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													131	557					0	0	1	0	0	G	141059831	A	G	141059831	3	3	22	1	0	0	0	0	1	0	0	0	837	333	12	3	4539	3	ARAP3	5	141059831	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13741	141059831	39855429	6469	8615											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	296					0	0	1	0	0	T	141059951	C	T	141059951	3	4	22	1	0	0	0	0	1	0	0	0	837	710	25	2	4659	2	ARAP3	5	141059951	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120	141059951	39855309	6470	8616											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000511044.1_5'UTR|PCDH1_ENST00000394536.3_Missense_Mutation_p.A905V|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													168	668					0	0	1	0	0	A	141243182	G	A	141243182	3	1	22	1	0	0	0	0	1	0	0	0	11553	1203	42	2	1095	2	PCDH1	5	141243182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183231	141243182	39672078	6471	8617											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	202					0	0	1	0	0	A	141248692	G	A	141248692	2	1	22	1	0	0	0	0	0	0	0	1	11553	1048	37	1		1	PCDH1	5	141248692	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5510	141248692	39666568	6472	8618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	280					0	0	1	0	0	G	141304986	A	G	141304986	3	3	22	1	0	0	0	0	1	0	0	0	8198	217	8	3	168	3	KIAA0141	5	141304986	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56294	141304986	39610274	6473	8619											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	309					0	0	1	0	0	T	141312861	C	T	141312861	2	4	22	1	0	0	0	0	0	0	0	1	8198	668	24	2		2	KIAA0141	5	141312861	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7875	141312861	39602399	6474	8620											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	339					6.60958e-23	7.49606e-23	1	1	0	T	141334893	G	T	141334893	3	4	22	1	0	0	0	0	1	0	0	0	11557	962	34	2	1046	2	PCDH12	5	141334893	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22032	141334893	39580367	6475	8621											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	248					0	0	1	0	0	A	141335130	G	A	141335130	3	1	22	1	0	0	0	0	1	0	0	0	11557	1203	42	2	1283	2	PCDH12	5	141335130	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237	141335130	39580130	6476	8622											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	132					0.0215528	0.0216335	1	1	0	T	141335291	G	T	141335291	3	4	22	1	0	0	0	0	1	0	0	0	11557	1000	35	2	1444	2	PCDH12	5	141335291	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	141335291	39579969	6477	8623											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	321					1.15088e-07	1.19614e-07	1	1	0	T	141336470	G	T	141336470	3	4	22	1	0	0	0	0	1	0	0	0	11557	1000	35	2	2623	2	PCDH12	5	141336470	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1179	141336470	39578790	6478	8624											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	533					3.27435e-08	3.41456e-08	1	1	0	T	141337392	G	T	141337392	3	4	22	1	0	0	0	0	1	0	0	0	11557	962	34	2	3545	2	PCDH12	5	141337392	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	922	141337392	39577868	6479	8625											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000513454.1_Missense_Mutation_p.P182L|GNPDA1_ENST00000458112.2_Missense_Mutation_p.P148L|GNPDA1_ENST00000311337.6_Missense_Mutation_p.P182L|GNPDA1_ENST00000500692.2_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													16	90					0	0	1	0	0	A	141384546	G	A	141384546	3	1	22	1	0	0	0	0	1	0	0	0	6584	1232	43	2	336	2	GNPDA1	5	141384546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47154	141384546	39530714	6480	8626											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000513454.1_Missense_Mutation_p.A145V|GNPDA1_ENST00000458112.2_Missense_Mutation_p.A111V|GNPDA1_ENST00000311337.6_Missense_Mutation_p.A145V|GNPDA1_ENST00000500692.2_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													28	91					0	0	1	0	0	A	141384657	G	A	141384657	3	1	22	1	0	0	0	0	1	0	0	0	6584	1203	42	2	447	2	GNPDA1	5	141384657	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	141384657	39530603	6481	8627											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000513454.1_Silent_p.G139G|GNPDA1_ENST00000458112.2_Silent_p.G105G|GNPDA1_ENST00000311337.6_Silent_p.G139G|GNPDA1_ENST00000500692.2_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													18	101					0	0	1	0	0	A	141384674	G	A	141384674	2	1	22	1	0	0	0	0	0	0	0	1	6584	1190	42	2		2	GNPDA1	5	141384674	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	141384674	39530586	6482	8628											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	399					9.21594e-48	1.13546e-47	1	1	0	A	141511891	C	A	141511891	3	1	22	1	0	0	0	0	1	0	0	0	10292	681	24	2	276	2	NDFIP1	5	141511891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127217	141511891	39403369	6483	8629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													134	654					1.73106e-74	2.20561e-74	1	1	0	T	141524156	G	T	141524156	4	4	22	1	0	0	0	0	0	1	0	0	10292	1001	35	2	609	2	NDFIP1	5	141524156	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12265	141524156	39391104	6484	8630											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394464.2_Missense_Mutation_p.L671I|NR3C1_ENST00000504572.1_Missense_Mutation_p.L672I|NR3C1_ENST00000415690.2_Missense_Mutation_p.L671I|NR3C1_ENST00000503201.1_Missense_Mutation_p.L671I|NR3C1_ENST00000424646.2_Missense_Mutation_p.L645I|NR3C1_ENST00000394466.2_Missense_Mutation_p.L672I|NR3C1_ENST00000416954.2_Missense_Mutation_p.L274I|NR3C1_ENST00000231509.3_Missense_Mutation_p.L672I	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													53	213					3.76628e-20	4.21522e-20	1	1	0	T	142675037	G	T	142675037	3	4	22	1	0	0	0	0	1	0	0	0	10678	971	34	2	386	2	NR3C1	5	142675037	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1150881	142675037	38240223	6485	8631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394464.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000504572.1_Missense_Mutation_p.S404Y|NR3C1_ENST00000415690.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000503201.1_Missense_Mutation_p.S404Y|NR3C1_ENST00000424646.2_Missense_Mutation_p.S378Y|NR3C1_ENST00000394466.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000416954.2_Missense_Mutation_p.S7Y|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000231509.3_Missense_Mutation_p.S404Y	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													39	159					2.19358e-23	2.49351e-23	1	1	0	T	142693707	G	T	142693707	3	4	22	1	0	0	0	0	1	0	0	0	10678	942	33	2	1205	2	NR3C1	5	142693707	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18670	142693707	38221553	6486	8632											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	487					0	0	1	0	0	A	145393591	G	A	145393591	2	1	22	1	0	0	0	0	0	0	0	1	14314	933	33	2		2	SH3RF2	5	145393591	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2699884	145393591	35521669	6487	8633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000510191.1_Silent_p.Y781Y|LARS_ENST00000545646.1_Silent_p.Y789Y|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													61	353					0	0	1	0	0	A	145509704	G	A	145509704	2	1	22	1	0	0	0	0	0	0	0	1	8673	1256	44	2		2	LARS	5	145509704	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116113	145509704	35405556	6488	8634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	297					0	0	1	0	0	A	145651170	G	A	145651170	3	1	22	1	0	0	0	0	1	0	0	0	13179	1145	40	1	2995	1	RBM27	5	145651170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141466	145651170	35264090	6489	8635											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	422					0	0	1	0	0	T	145719317	C	T	145719317	2	4	22	1	0	0	0	0	0	0	0	1	12326	535	19	1		1	POU4F3	5	145719317	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68147	145719317	35195943	6490	8636											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	225					0	0	1	0	0	A	145838663	G	A	145838663	3	1	22	1	0	0	0	0	1	0	0	0	15745	1203	42	2	669	2	TCERG1	5	145838663	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119346	145838663	35076597	6491	8637											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													124	528					0	0	1	0	0	A	145838887	G	A	145838887	2	1	22	1	0	0	0	0	0	0	0	1	15745	1074	38	1		1	TCERG1	5	145838887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	224	145838887	35076373	6492	8638											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													147	799					0	0	1	0	0	G	145843122	A	G	145843122	3	3	22	1	0	0	0	0	1	0	0	0	15745	43	2	3	919	3	TCERG1	5	145843122	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4235	145843122	35072138	6493	8639											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													196	838					0	0	1	0	0	C	145849225	A	C	145849225	3	2	22	1	0	0	0	0	1	0	0	0	15745	11	1	3	1343	3	TCERG1	5	145849225	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6103	145849225	35066035	6494	8640	49	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													199	773					0	0	1	0	0	A	145849232	G	A	145849232	3	1	22	1	0	0	0	0	1	0	0	0	15745	942	33	2	1350	2	TCERG1	5	145849232	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7	145849232	35066028	6495	8641	49	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	158					0	0	1	0	0	T	145878172	C	T	145878172	4	4	22	1	0	0	0	0	0	1	0	0	15745	644	23	1	2367	1	TCERG1	5	145878172	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28940	145878172	35037088	6496	8642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	282					0	0	1	0	0	A	145895387	G	A	145895387	3	1	22	1	0	0	0	0	1	0	0	0	6697	1145	40	1	973	1	GPR151	5	145895387	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17215	145895387	35019873	6497	8643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398523.3_Silent_p.Q114Q|STK32A_ENST00000541094.1_Silent_p.Q114Q|STK32A_ENST00000398521.3_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													11	118					0	0	1	0	0	A	146703542	G	A	146703542	2	1	22	1	0	0	0	0	0	0	0	1	15353	933	33	2		2	STK32A	5	146703542	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	808155	146703542	34211718	6498	8644											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_014790.3	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													80	408					7.2426e-40	8.76758e-40	1	1	0	A	146997591	C	A	146997591	3	1	22	1	0	0	0	0	1	0	0	0	7985	796	28	2	215	2	JAKMIP2	5	146997591	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	294049	146997591	33917669	6499	8645											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_014790.3	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													124	510					0	0	1	0	0	T	147024484	C	T	147024484	3	4	22	1	0	0	0	0	1	0	0	0	7985	884	31	1	1484	1	JAKMIP2	5	147024484	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26893	147024484	33890776	6500	8646											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_014790.3	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													64	299					0	0	1	0	0	T	147030054	C	T	147030054	2	4	22	1	0	0	0	0	0	0	0	1	7985	912	32	2		2	JAKMIP2	5	147030054	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5570	147030054	33885206	6501	8647											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_014790.3	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													175	766					0	0	1	0	0	T	147040937	C	T	147040937	2	4	22	1	0	0	0	0	0	0	0	1	7985	639	23	1		1	JAKMIP2	5	147040937	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10883	147040937	33874323	6502	8648											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													131	494					0	0	1	0	0	C	147486674	T	C	147486674	2	2	22	1	0	0	0	0	0	0	0	1	15118	1683	59	3		3	SPINK5	5	147486674	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	445737	147486674	33428586	6503	8649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	620					0	0	1	0	0	G	147488388	A	G	147488388	2	3	22	1	0	0	0	0	0	0	0	1	15118	301	11	3		3	SPINK5	5	147488388	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1714	147488388	33426872	6504	8650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	214					0	0	1	0	0	A	147493998	G	A	147493998	3	1	22	1	0	0	0	0	1	0	0	0	15118	1145	40	1	2043	1	SPINK5	5	147493998	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5610	147493998	33421262	6505	8651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SPINK13_ENST00000511106.1_5'UTR|RP11-373N22.3_ENST00000501695.3_RNA|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													28	793					1.7881e-09	1.88299e-09	1	1	0	A	147649640	C	A	147649640	3	1	22	1	0	0	0	0	1	0	0	0	15114	797	28	2	7	2	SPINK13	5	147649640	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155642	147649640	33265620	6506	8652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000513826.1_Silent_p.E124E|FBXO38_ENST00000296701.6_Silent_p.E124E|FBXO38_ENST00000394370.3_Silent_p.E124E|FBXO38_ENST00000509699.2_3'UTR			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													98	481					0	0	1	0	0	A	147781654	G	A	147781654	2	1	22	1	0	0	0	0	0	0	0	1	5779	991	35	2		2	FBXO38	5	147781654	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132014	147781654	33133606	6507	8653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000296701.6_Intron|FBXO38_ENST00000394370.3_Silent_p.E795E			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													6	236					0	0	1	0	0	G	147807242	A	G	147807242	2	3	22	1	0	0	0	0	0	0	0	1	5779	40	2	3		3	FBXO38	5	147807242	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25588	147807242	33108018	6508	8654											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000296701.6_Missense_Mutation_p.R825Q|FBXO38_ENST00000394370.3_Missense_Mutation_p.R995Q			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													58	246					0	0	1	0	0	A	147820025	G	A	147820025	3	1	22	1	0	0	0	0	1	0	0	0	5779	1058	37	1	3283	1	FBXO38	5	147820025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12783	147820025	33095235	6509	8655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													141	744					0	0	1	0	0	A	147845485	G	A	147845485	2	1	22	1	0	0	0	0	0	0	0	1	7493	958	34	2		2	HTR4	5	147845485	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25460	147845485	33069775	6510	8656											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377888.3_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000362016.2_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000517929.1_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000354217.2_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													40	172					0	0	1	0	0	T	147863911	C	T	147863911	3	4	22	1	0	0	0	0	1	0	0	0	7493	797	28	2	354	2	HTR4	5	147863911	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18426	147863911	33051349	6511	8657											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377888.3_Missense_Mutation_p.M32I|HTR4_ENST00000521735.1_Missense_Mutation_p.M32I|HTR4_ENST00000362016.2_Missense_Mutation_p.M32I|HTR4_ENST00000314512.6_Missense_Mutation_p.M32I|HTR4_ENST00000517929.1_Missense_Mutation_p.M32I|HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000521530.1_Missense_Mutation_p.M32I|HTR4_ENST00000520514.1_Missense_Mutation_p.M32I|HTR4_ENST00000354217.2_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													55	229					1.38909e-20	1.55765e-20	1	1	0	A	147929756	C	A	147929756	3	1	22	1	0	0	0	0	1	0	0	0	7493	594	21	2	1386	2	HTR4	5	147929756	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65845	147929756	32985504	6512	8658											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515425.1_Missense_Mutation_p.L994R|SH3TC2_ENST00000394358.2_Missense_Mutation_p.S915A|SH3TC2_ENST00000512049.1_Missense_Mutation_p.L987R			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													161	636					0	0	1	0	0	C	148406207	A	C	148406207	3	2	22	1	0	0	0	0	1	0	0	0	14317	304	11	3	909	3	SH3TC2	5	148406207	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	476451	148406207	32509053	6513	8659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394358.2_Missense_Mutation_p.E40K|SH3TC2_ENST00000512049.1_Missense_Mutation_p.E148K	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													43	440					0	0	1	0	0	T	148422323	C	T	148422323	3	4	22	1	0	0	0	0	1	0	0	0	14317	922	32	2	3455	2	SH3TC2	5	148422323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16116	148422323	32492937	6514	8660											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ABLIM3_ENST00000504238.1_Missense_Mutation_p.R305W|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R305W|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R305W|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R367W|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R367W|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000519549.1_3'UTR			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													110	533					0	0	1	0	0	T	148619346	C	T	148619346	3	4	22	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	6515	8661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ABLIM3_ENST00000504238.1_Missense_Mutation_p.I415S|ABLIM3_ENST00000356541.3_Missense_Mutation_p.I415S|ABLIM3_ENST00000326685.7_Missense_Mutation_p.I431S|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.I526S|ABLIM3_ENST00000508983.1_Missense_Mutation_p.I493S|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000517451.1_Missense_Mutation_p.I12S			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													25	237					0	0	1	0	0	G	148627370	T	G	148627370	3	3	22	1	0	0	0	0	1	0	0	0	96	1493	52	3	1643	3	ABLIM3	5	148627370	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8024	148627370	32287890	6516	8662											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000326685.7_Silent_p.L587L|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Silent_p.L682L|ABLIM3_ENST00000508983.1_Silent_p.L649L|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000517451.1_Silent_p.L168L			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													56	213					0	0	1	0	0	T	148637959	C	T	148637959	2	4	22	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	6517	8663											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515000.1_Silent_p.T15T|AFAP1L1_ENST00000522492.1_3'UTR	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													42	281					0	0	1	0	0	T	148679100	C	T	148679100	2	4	22	1	0	0	0	0	0	0	0	1	353	639	23	1		1	AFAP1L1	5	148679100	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41141	148679100	32236160	6518	8664											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515000.1_Silent_p.Q239Q|AFAP1L1_ENST00000522492.1_3'UTR	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													46	170					0	0	1	0	0	A	148687146	G	A	148687146	2	1	22	1	0	0	0	0	0	0	0	1	353	962	34	2		2	AFAP1L1	5	148687146	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8046	148687146	32228114	6519	8665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	702					0	0	1	0	0	T	148742307	C	T	148742307	3	4	22	1	0	0	0	0	1	0	0	0	11656	652	23	1	202	1	PCYOX1L	5	148742307	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55161	148742307	32172953	6520	8666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	29	748					7.26314e-15	7.90818e-15	1	1	0	T	148747604	G	T	148747604	3	4	22	1	0	0	0	0	1	0	0	0	11656	971	34	2	894	2	PCYOX1L	5	148747604	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5297	148747604	32167656	6521	8667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	287					0	0	1	0	0	T	148996246	C	T	148996246	3	4	22	1	0	0	0	0	1	0	0	0	903	739	26	2	589	2	ARHGEF37	5	148996246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248642	148996246	31919014	6522	8668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	316	1245					0	0	1	0	0	T	148998539	C	T	148998539	2	4	22	1	0	0	0	0	0	0	0	1	903	854	30	2		2	ARHGEF37	5	148998539	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2293	148998539	31916721	6523	8669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	579					0	0	1	0	0	A	148999941	G	A	148999941	3	1	22	1	0	0	0	0	1	0	0	0	903	1059	37	1	945	1	ARHGEF37	5	148999941	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1402	148999941	31915319	6524	8670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	492					0	0	1	0	0	A	149006811	G	A	149006811	3	1	22	1	0	0	0	0	1	0	0	0	903	1203	42	2	1675	2	ARHGEF37	5	149006811	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6870	149006811	31908449	6525	8671	50	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	574					1.05317e-09	1.11087e-09	1	1	0	A	149006812	C	A	149006812	2	1	22	1	0	0	0	0	0	0	0	1	903	726	26	2		2	ARHGEF37	5	149006812	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1	149006812	31908448	6526	8672	50	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394320.3_Missense_Mutation_p.A178T|PPARGC1B_ENST00000360453.4_Intron|PPARGC1B_ENST00000403750.1_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													130	601					0	0	1	0	0	A	149210396	G	A	149210396	3	1	22	1	0	0	0	0	1	0	0	0	12346	1087	38	1	553	1	PPARGC1B	5	149210396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203584	149210396	31704864	6527	8673											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394320.3_Silent_p.E450E|PPARGC1B_ENST00000360453.4_Silent_p.E411E|PPARGC1B_ENST00000403750.1_Silent_p.E386E	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													13	54					0	0	1	0	0	A	149212986	G	A	149212986	2	1	22	1	0	0	0	0	0	0	0	1	12346	1020	36	2		2	PPARGC1B	5	149212986	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2590	149212986	31702274	6528	8674											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394320.3_Missense_Mutation_p.R683H|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R644H|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R619H	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													78	418					0	0	1	0	0	A	149216066	G	A	149216066	3	1	22	1	0	0	0	0	1	0	0	0	12346	1145	40	1	2085	1	PPARGC1B	5	149216066	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3080	149216066	31699194	6529	8675											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394320.3_Silent_p.E772E|PPARGC1B_ENST00000360453.4_Silent_p.E733E|PPARGC1B_ENST00000403750.1_Silent_p.E708E	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													163	804					0	0	1	0	0	A	149216334	G	A	149216334	2	1	22	1	0	0	0	0	0	0	0	1	12346	933	33	2		2	PPARGC1B	5	149216334	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	268	149216334	31698926	6530	8676											
PPARGC1B	133522	broad.mit.edu	37	chr5	149216457	149216459	+	In_Frame_Del	DEL	GGA	GGA	-													gaggaggaagaggaagaaggGgaggaggaggaggaggacga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149216457_149216459delGGA	ENST00000309241.5	+	8	2471_2473	c.2439_2441delGGA	c.(2437-2442)ggg>gg	p.GE813del	PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	813	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)			aggaagaaggggaggaggaggag	0.606													9	538	---	---	---	---						-	149216459	GGA	-	149216457	7	5	22	1	0	1	0	1	0	0	0	0	12346	1219	43	0	2476	0	PPARGC1B	5	149216457	In_Frame_Del	DEL	GGA	TCGA-IB-7651-01A-11D-2154-08	123	149216457	31698803	6531	8677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	306					0	0	1	0	0	C	149310693	A	C	149310693	2	2	22	1	0	0	0	0	0	0	0	1	11692	349	13	3		3	PDE6A	5	149310693	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	94236	149310693	31604567	6532	8678											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	296					0	0	1	0	0	C	149374485	A	C	149374485	3	2	22	1	0	0	0	0	1	0	0	0	15960	72	3	3	142	3	TIGD6	5	149374485	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	63792	149374485	31540775	6533	8679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	411					0	0	1	0	0	T	149439327	C	T	149439327	3	4	22	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	6534	8680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								6	115					0.0215528	0.0216335	1	1	0	T	149495413	G	T	149495413	2	4	22	1	0	0	0	0	0	0	0	1	11709	1161	41	2		2	PDGFRB	5	149495413	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56086	149495413	31419847	6535	8681											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								74	299					1.32218e-49	1.6358e-49	1	1	0	A	149500528	C	A	149500528	3	1	22	1	0	0	0	0	1	0	0	0	11709	681	24	2	835	2	PDGFRB	5	149500528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5115	149500528	31414732	6536	8682											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								8	32					0	0	1	0	0	A	149512485	G	A	149512485	2	1	22	1	0	0	0	0	0	0	0	1	11709	991	35	2		2	PDGFRB	5	149512485	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11957	149512485	31402775	6537	8683											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	175					2.26627e-22	2.56399e-22	1	1	0	T	149677669	G	T	149677669	3	4	22	1	0	0	0	0	1	0	0	0	993	971	34	2	895	2	ARSI	5	149677669	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165184	149677669	31237591	6538	8684											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000439160.2_Silent_p.L1134L|TCOF1_ENST00000323668.7_Silent_p.L1095L|TCOF1_ENST00000377797.3_Silent_p.L1172L|TCOF1_ENST00000513346.1_Silent_p.L1171L|TCOF1_ENST00000504761.2_Silent_p.L1172L|TCOF1_ENST00000445265.2_Silent_p.L1095L			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													6	264					0	0	1	0	0	T	149771736	C	T	149771736	2	4	22	1	0	0	0	0	0	0	0	1	15768	796	28	2		2	TCOF1	5	149771736	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94067	149771736	31143524	6539	8685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000524315.1_Silent_p.A117A|CD74_ENST00000009530.7_Silent_p.A117A|CD74_ENST00000377795.3_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								15	54					0	0	1	0	0	T	149786471	C	T	149786471	2	4	22	1	0	0	0	0	0	0	0	1	3057	755	27	1		1	CD74	5	149786471	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14735	149786471	31128789	6540	8686											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	254					0	0	1	0	0	A	149927843	G	A	149927843	3	1	22	1	0	0	0	0	1	0	0	0	10302	1116	39	1	2251	1	NDST1	5	149927843	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141372	149927843	30987417	6541	8687											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	124					0	0	1	0	0	T	149929267	C	T	149929267	3	4	22	1	0	0	0	0	1	0	0	0	10302	884	31	1	2390	1	NDST1	5	149929267	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1424	149929267	30985993	6542	8688											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000307662.4_5'UTR|SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000522122.1_Missense_Mutation_p.S235N	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													28	106					0	0	1	0	0	A	150027809	G	A	150027809	3	1	22	1	0	0	0	0	1	0	0	0	15513	971	34	2	710	2	SYNPO	5	150027809	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98542	150027809	30887451	6543	8689											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000307662.4_5'UTR|SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000522122.1_Missense_Mutation_p.S244I	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													7	204					0.00198382	0.00200138	1	1	0	T	150027836	G	T	150027836	3	4	22	1	0	0	0	0	1	0	0	0	15513	971	34	2	737	2	SYNPO	5	150027836	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27	150027836	30887424	6544	8690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000307662.4_Missense_Mutation_p.R310H|SYNPO_ENST00000519664.1_Missense_Mutation_p.R310H|SYNPO_ENST00000522122.1_Missense_Mutation_p.R554H	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													9	316					0	0	1	0	0	A	150028766	G	A	150028766	3	1	22	1	0	0	0	0	1	0	0	0	15513	1087	38	1	1667	1	SYNPO	5	150028766	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	930	150028766	30886494	6545	8691											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	129					1.12875e-08	1.18168e-08	1	1	0	T	150052037	G	T	150052037	3	4	22	1	0	0	0	0	1	0	0	0	10145	971	34	2	578	2	MYOZ3	5	150052037	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23271	150052037	30863223	6546	8692											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000456566.2_3'UTR|MYOZ3_ENST00000517768.1_Missense_Mutation_p.G208D|MYOZ3_ENST00000520112.1_Silent_p.G124G	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													118	569					0	0	1	0	0	A	150056304	G	A	150056304	3	1	22	1	0	0	0	0	1	0	0	0	10145	1203	42	2	645	2	MYOZ3	5	150056304	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4267	150056304	30858956	6547	8693											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	398					0	0	1	0	0	A	150071373	G	A	150071373	2	1	22	1	0	0	0	0	0	0	0	1	13174	1020	36	2		2	RBM22	5	150071373	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15069	150071373	30843887	6548	8694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	567					0	0	1	0	0	A	150076139	G	A	150076139	2	1	22	1	0	0	0	0	0	0	0	1	13174	933	33	2		2	RBM22	5	150076139	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4766	150076139	30839121	6549	8695											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	571					0	0	1	0	0	A	150078092	G	A	150078092	2	1	22	1	0	0	0	0	0	0	0	1	13174	929	33	2		2	RBM22	5	150078092	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1953	150078092	30837168	6550	8696											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446090.2_Silent_p.T344T|DCTN4_ENST00000424236.1_Silent_p.T280T	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													7	181					0.00307968	0.00310409	1	1	0	T	150097898	G	T	150097898	2	4	22	1	0	0	0	0	0	0	0	1	4332	1219	43	2		2	DCTN4	5	150097898	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19806	150097898	30817362	6551	8697											
DCTN4	51164	broad.mit.edu	37	chr5	150136014	150136015	+	Frame_Shift_Ins	INS	-	-	T													tggcttcagccgatggcataINSttttctaaacaactgggaca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150136014_150136015insT	ENST00000447998.2	-	2	285_286	c.170_171insA	c.(169-171)aatfs	p.N57fs	DCTN4_ENST00000446090.2_Frame_Shift_Ins_p.N57fs|DCTN4_ENST00000424236.1_5'UTR|DCTN4_ENST00000521093.1_5'UTR	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	57						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)			CCGATGGCATATTTTCTAAACA	0.351													24	290	---	---	---	---						T	150136015	-	T	150136014	7	5	22	1	0	1	1	0	0	0	0	0	4332	446	16	0	1284	0	DCTN4	5	150136014	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	38116	150136014	30779246	6552	8698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000274599.5_Missense_Mutation_p.G237V|ZNF300_ENST00000394226.2_Missense_Mutation_p.G237V|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.G201V	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													115	459					2.42198e-52	3.01187e-52	1	1	0	A	150276091	C	A	150276091	3	1	22	1	0	0	0	0	1	0	0	0	17888	855	30	2	1108	2	ZNF300	5	150276091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140077	150276091	30639169	6553	8699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000274599.5_Missense_Mutation_p.A84T|ZNF300_ENST00000394226.2_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													80	358					0	0	1	0	0	T	150277639	C	T	150277639	3	4	22	1	0	0	0	0	1	0	0	0	17888	739	26	2	1572	2	ZNF300	5	150277639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1548	150277639	30637621	6554	8700											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000523714.1_Missense_Mutation_p.S452F|ANXA6_ENST00000377751.5_Missense_Mutation_p.S141F|ANXA6_ENST00000356496.5_Missense_Mutation_p.S484F	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													28	113					0	0	1	0	0	A	150497386	G	A	150497386	3	1	22	1	0	0	0	0	1	0	0	0	716	1174	41	2	602	2	ANXA6	5	150497386	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219747	150497386	30417874	6555	8701											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000523714.1_Missense_Mutation_p.T432I|ANXA6_ENST00000377751.5_Missense_Mutation_p.T121I|ANXA6_ENST00000356496.5_Missense_Mutation_p.T464I	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													71	286					0	0	1	0	0	A	150498908	G	A	150498908	3	1	22	1	0	0	0	0	1	0	0	0	716	1029	36	2	666	2	ANXA6	5	150498908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1522	150498908	30416352	6556	8702											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	357					0	0	1	0	0	T	150581210	C	T	150581210	3	4	22	1	0	0	0	0	1	0	0	0	2861	652	23	1	754	1	CCDC69	5	150581210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82302	150581210	30334050	6557	8703											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	179					5.03518e-11	5.3609e-11	1	1	0	T	150664259	G	T	150664259	3	4	22	1	0	0	0	0	1	0	0	0	14650	1232	43	2	706	2	SLC36A3	5	150664259	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83049	150664259	30251001	6558	8704											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	105					0	0	1	0	0	A	150672988	G	A	150672988	3	1	22	1	0	0	0	0	1	0	0	0	14650	1203	42	2	1226	2	SLC36A3	5	150672988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8729	150672988	30242272	6559	8705											
SLC36A2	153201	broad.mit.edu	37	chr5	150726957	150726957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttggcactttcaggaggcGacataaggtccaatttgatg	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150726957G>A	ENST00000335244.4	-	1	194	c.65C>T	c.(64-66)tCg>tTg	p.S22L	SLC36A2_ENST00000521967.1_Missense_Mutation_p.S22L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	22					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)			TTCAGGAGGCGACATAAGGTC	0.488													112	986					0	0	1	0	0	A	150726957	G	A	150726957	3	1	22	1	0	0	0	0	1	0	0	0	14649	1059	37	1	1426	1	SLC36A2	5	150726957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53969	150726957	30188303	6560	8706											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520701.1_Missense_Mutation_p.D245Y|SLC36A1_ENST00000521925.1_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													210	934					3.33071e-83	4.26405e-83	1	1	0	T	150853243	G	T	150853243	3	4	22	1	0	0	0	0	1	0	0	0	14648	942	33	2	759	2	SLC36A1	5	150853243	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126286	150853243	30062017	6561	8707											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	375					0	0	1	0	0	T	150887020	C	T	150887020	3	4	22	1	0	0	0	0	1	0	0	0	5723	768	27	1	845	1	FAT2	5	150887020	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33777	150887020	30028240	6562	8708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	166					0	0	1	0	0	T	150920160	C	T	150920160	3	4	22	1	0	0	0	0	1	0	0	0	5723	855	30	2	4098	2	FAT2	5	150920160	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33140	150920160	29995100	6563	8709											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	395					3.10586e-51	3.85317e-51	1	1	0	A	150925264	C	A	150925264	3	1	22	1	0	0	0	0	1	0	0	0	5723	680	24	2	7685	2	FAT2	5	150925264	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5104	150925264	29989996	6564	8710											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	282					0	0	1	0	0	A	150925761	G	A	150925761	2	1	22	1	0	0	0	0	0	0	0	1	5723	991	35	2		2	FAT2	5	150925761	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	497	150925761	29989499	6565	8711											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	290					0	0	1	0	0	C	150930195	A	C	150930195	3	2	22	1	0	0	0	0	1	0	0	0	5723	98	4	3	8583	3	FAT2	5	150930195	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4434	150930195	29985065	6566	8712											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	168					9.65963e-10	1.01978e-09	1	1	0	T	150930355	G	T	150930355	2	4	22	1	0	0	0	0	0	0	0	1	5723	1219	43	2		2	FAT2	5	150930355	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	160	150930355	29984905	6567	8713											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	396					0	0	1	0	0	T	150934003	C	T	150934003	3	4	22	1	0	0	0	0	1	0	0	0	5723	864	30	2	9264	2	FAT2	5	150934003	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3648	150934003	29981257	6568	8714											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	202					0	0	1	0	0	A	150945633	G	A	150945633	2	1	22	1	0	0	0	0	0	0	0	1	5723	991	35	2		2	FAT2	5	150945633	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11630	150945633	29969627	6569	8715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	291					0	0	1	0	0	T	150947261	C	T	150947261	3	4	22	1	0	0	0	0	1	0	0	0	5723	884	31	1	11909	1	FAT2	5	150947261	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1628	150947261	29967999	6570	8716											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	369					0	0	1	0	0	T	150947892	C	T	150947892	3	4	22	1	0	0	0	0	1	0	0	0	5723	652	23	1	12540	1	FAT2	5	150947892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	631	150947892	29967368	6571	8717											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													147	623					0	0	1	0	0	C	150948345	T	C	150948345	3	2	22	1	0	0	0	0	1	0	0	0	5723	1667	58	3	12993	3	FAT2	5	150948345	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	453	150948345	29966915	6572	8718											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	562					0	0	1	0	0	T	151166218	C	T	151166218	3	4	22	1	0	0	0	0	1	0	0	0	6176	759	27	1	39	1	G3BP1	5	151166218	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217873	151166218	29749042	6573	8719											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	410					0	0	1	0	0	C	151175110	A	C	151175110	2	2	22	1	0	0	0	0	0	0	0	1	6176	233	9	3		3	G3BP1	5	151175110	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8892	151175110	29740150	6574	8720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	399					3.57733e-08	3.7302e-08	1	1	0	T	151183461	G	T	151183461	3	4	22	1	0	0	0	0	1	0	0	0	6176	1000	35	2	1252	2	G3BP1	5	151183461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8351	151183461	29731799	6575	8721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	470					0	0	1	0	0	C	151771975	A	C	151771975	3	2	22	1	0	0	0	0	1	0	0	0	10554	333	12	3	226	3	NMUR2	5	151771975	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	588514	151771975	29143285	6576	8722	51	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	571					6.33239e-15	6.89894e-15	1	1	0	A	151771983	C	A	151771983	3	1	22	1	0	0	0	0	1	0	0	0	10554	912	32	2	234	2	NMUR2	5	151771983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8	151771983	29143277	6577	8723	51	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	396					0	0	1	0	0	A	151784223	G	A	151784223	3	1	22	1	0	0	0	0	1	0	0	0	10554	1116	39	1	811	1	NMUR2	5	151784223	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12240	151784223	29131037	6578	8724											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340592.5_Missense_Mutation_p.T71I|GRIA1_ENST00000448073.4_Missense_Mutation_p.T81I|GRIA1_ENST00000518142.1_Missense_Mutation_p.T71I|GRIA1_ENST00000521843.2_Missense_Mutation_p.T2I|GRIA1_ENST00000518783.1_Missense_Mutation_p.T81I	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													14	367					0	0	1	0	0	T	152873617	C	T	152873617	3	4	22	1	0	0	0	0	1	0	0	0	6808	507	18	2	218	2	GRIA1	5	152873617	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1089394	152873617	28041643	6579	8725											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340592.5_Silent_p.A291A|GRIA1_ENST00000448073.4_Silent_p.A301A|GRIA1_ENST00000518142.1_Silent_p.A211A|GRIA1_ENST00000521843.2_Silent_p.A222A|GRIA1_ENST00000518783.1_Silent_p.A301A	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													69	236					0	0	1	0	0	A	153056565	G	A	153056565	2	1	22	1	0	0	0	0	0	0	0	1	6808	1074	38	1		1	GRIA1	5	153056565	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	182948	153056565	27858695	6580	8726											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	448					0	0	1	0	0	G	153433216	A	G	153433216	2	3	22	1	0	0	0	0	0	0	0	1	9565	320	12	3		3	MFAP3	5	153433216	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	376651	153433216	27482044	6581	8727											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	308					0	0	1	0	0	A	153709140	G	A	153709140	3	1	22	1	0	0	0	0	1	0	0	0	6248	971	34	2	424	2	GALNT10	5	153709140	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275924	153709140	27206120	6582	8728											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.R223H	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													15	354					0	0	1	0	0	A	153795488	G	A	153795488	3	1	22	1	0	0	0	0	1	0	0	0	6248	1087	38	1	1691	1	GALNT10	5	153795488	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86348	153795488	27119772	6583	8729											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													133	603					0	0	1	0	0	A	154172210	G	A	154172210	3	1	22	1	0	0	0	0	1	0	0	0	8667	1145	40	1	376	1	LARP1	5	154172210	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	376722	154172210	26743050	6584	8730											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	275					0	0	1	0	0	C	154174798	T	C	154174798	2	2	22	1	0	0	0	0	0	0	0	1	8667	1567	55	3		3	LARP1	5	154174798	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2588	154174798	26740462	6585	8731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	220					0	0	1	0	0	A	154179551	G	A	154179551	2	1	22	1	0	0	0	0	0	0	0	1	8667	933	33	2		2	LARP1	5	154179551	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4753	154179551	26735709	6586	8732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	251					0	0	1	0	0	A	154393573	G	A	154393573	3	1	22	1	0	0	0	0	1	0	0	0	8346	1058	37	1	156	1	KIF4B	5	154393573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214022	154393573	26521687	6587	8733											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	278					0	0	1	0	0	C	154393593	T	C	154393593	2	2	22	1	0	0	0	0	0	0	0	1	8346	1644	57	3		3	KIF4B	5	154393593	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20	154393593	26521667	6588	8734											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	523					0	0	1	0	0	G	154395412	A	G	154395412	3	3	22	1	0	0	0	0	1	0	0	0	8346	247	9	3	1995	3	KIF4B	5	154395412	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1819	154395412	26519848	6589	8735											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													132	476					0	0	1	0	0	A	154395477	G	A	154395477	2	1	22	1	0	0	0	0	0	0	0	1	8346	1306	46	2		2	KIF4B	5	154395477	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65	154395477	26519783	6590	8736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	263					0	0	1	0	0	G	156381524	T	G	156381524	3	3	22	1	0	0	0	0	1	0	0	0	15963	1725	60	3	866	3	TIMD4	5	156381524	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1986047	156381524	24533736	6591	8737											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	868					0	0	1	0	0	G	156589472	T	G	156589472	3	3	22	1	0	0	0	0	1	0	0	0	5643	1725	60	3	17	3	FAM71B	5	156589472	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	207948	156589472	24325788	6592	8738											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	373					0	0	1	0	0	G	156590053	A	G	156590053	3	3	22	1	0	0	0	0	1	0	0	0	5643	217	8	3	598	3	FAM71B	5	156590053	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	581	156590053	24325207	6593	8739											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	1347					0	0	1	0	0	C	156592605	T	C	156592605	3	2	22	1	0	0	0	0	1	0	0	0	5643	1667	58	3	1250	3	FAM71B	5	156592605	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2552	156592605	24322655	6594	8740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								21	127					0	0	1	0	0	C	156635904	A	C	156635904	3	2	22	1	0	0	0	0	1	0	0	0	7953	72	3	3	149	3	ITK	5	156635904	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	43299	156635904	24279356	6595	8741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541131.1_Missense_Mutation_p.L340M|CYFIP2_ENST00000435847.2_Missense_Mutation_p.L89M|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L415M|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L219M|CYFIP2_ENST00000521420.1_Missense_Mutation_p.L389M|CYFIP2_ENST00000377576.3_Missense_Mutation_p.L415M	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													8	34					0.0381472	0.0382505	1	1	0	A	156741989	C	A	156741989	3	1	22	1	0	0	0	0	1	0	0	0	4161	796	28	2	1289	2	CYFIP2	5	156741989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106085	156741989	24173271	6596	8742											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541131.1_Silent_p.R401R|CYFIP2_ENST00000435847.2_Silent_p.R150R|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Silent_p.R476R|CYFIP2_ENST00000522463.1_Silent_p.R280R|CYFIP2_ENST00000521420.1_Silent_p.R450R|CYFIP2_ENST00000377576.3_Silent_p.R476R	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													30	535					0	0	1	0	0	A	156746841	G	A	156746841	2	1	22	1	0	0	0	0	0	0	0	1	4161	1165	41	2		2	CYFIP2	5	156746841	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4852	156746841	24168419	6597	8743											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541131.1_Silent_p.F411F|CYFIP2_ENST00000435847.2_Silent_p.F160F|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Silent_p.F486F|CYFIP2_ENST00000522463.1_Silent_p.F290F|CYFIP2_ENST00000521420.1_Silent_p.F460F|CYFIP2_ENST00000377576.3_Silent_p.F486F	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													122	611					0	0	1	0	0	T	156746871	C	T	156746871	2	4	22	1	0	0	0	0	0	0	0	1	4161	883	31	1		1	CYFIP2	5	156746871	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30	156746871	24168389	6598	8744											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541131.1_Nonsense_Mutation_p.R439*|CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.R188*|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.R318*|CYFIP2_ENST00000521420.1_Nonsense_Mutation_p.R488*|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.R514*	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													36	163					0	0	1	0	0	T	156747679	C	T	156747679	4	4	22	1	0	0	0	0	0	1	0	0	4161	876	31	1	1594	1	CYFIP2	5	156747679	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	808	156747679	24167581	6599	8745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.A148D|NIPAL4_ENST00000521390.1_3'UTR	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													33	204					3.11337e-16	3.41587e-16	1	1	0	A	156890321	C	A	156890321	3	1	22	1	0	0	0	0	1	0	0	0	10474	739	26	2	449	2	NIPAL4	5	156890321	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142642	156890321	24024939	6600	8746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000517905.1_Missense_Mutation_p.Q890H|ADAM19_ENST00000394020.1_Missense_Mutation_p.Q892H	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													13	39					2.27111e-07	2.35674e-07	1	1	0	A	156908832	C	A	156908832	3	1	22	1	0	0	0	0	1	0	0	0	239	796	28	2	94	2	ADAM19	5	156908832	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18511	156908832	24006428	6601	8747											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000517905.1_Missense_Mutation_p.V217M|ADAM19_ENST00000394020.1_Missense_Mutation_p.V219M	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													200	824					0	0	1	0	0	T	156945848	C	T	156945848	3	4	22	1	0	0	0	0	1	0	0	0	239	536	19	1	2175	1	ADAM19	5	156945848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37016	156945848	23969412	6602	8748											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	219					0	0	1	0	0	T	157065339	C	T	157065339	2	4	22	1	0	0	0	0	0	0	0	1	15006	796	28	2		2	SOX30	5	157065339	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119491	157065339	23849921	6603	8749											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	452					0	0	1	0	0	G	157073693	A	G	157073693	3	3	22	1	0	0	0	0	1	0	0	0	15006	391	14	3	934	3	SOX30	5	157073693	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8354	157073693	23841567	6604	8750											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	243					0	0	1	0	0	T	157161741	C	T	157161741	4	4	22	1	0	0	0	0	0	1	0	0	15921	760	27	1	536	1	THG1L	5	157161741	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88048	157161741	23753519	6605	8751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	467					0	0	1	0	0	G	157178476	T	G	157178476	3	3	22	1	0	0	0	0	1	0	0	0	9097	1783	62	3	533	3	LSM11	5	157178476	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16735	157178476	23736784	6606	8752											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000517373.1_Silent_p.F279F|EBF1_ENST00000380654.4_Silent_p.F256F|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								80	306					0	0	1	0	0	A	158223401	G	A	158223401	2	1	22	1	0	0	0	0	0	0	0	1	4906	933	33	2		2	EBF1	5	158223401	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1044925	158223401	22691859	6607	8753											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000517373.1_Silent_p.N40N|EBF1_ENST00000380654.4_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								16	647					0	0	1	0	0	A	158526367	G	A	158526367	2	1	22	1	0	0	0	0	0	0	0	1	4906	1368	48	2		2	EBF1	5	158526367	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302966	158526367	22388893	6608	8754											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	366					5.52034e-35	6.58082e-35	1	1	0	T	158696032	G	T	158696032	4	4	22	1	0	0	0	0	0	1	0	0	16952	1001	35	2	111	2	UBLCP1	5	158696032	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169665	158696032	22219228	6609	8755											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	265					9.45814e-24	1.07742e-23	1	1	0	T	158711927	G	T	158711927	3	4	22	1	0	0	0	0	1	0	0	0	16952	962	34	2	983	2	UBLCP1	5	158711927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15895	158711927	22203333	6610	8756											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	271					0	0	1	0	0	A	158753736	G	A	158753736	3	1	22	1	0	0	0	0	1	0	0	0	7669	1174	41	2	955	2	IL12B	5	158753736	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41809	158753736	22161524	6611	8757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003314.1	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													5	140					0	0	1	0	0	T	159437762	C	T	159437762	3	4	22	1	0	0	0	0	1	0	0	0	16740	768	27	1	229	1	TTC1	5	159437762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	684026	159437762	21477498	6612	8758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	120					0	0	1	0	0	T	159546002	C	T	159546002	3	4	22	1	0	0	0	0	1	0	0	0	12897	864	30	2	2023	2	PWWP2A	5	159546002	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108240	159546002	21369258	6613	8759											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	149					0	0	1	0	0	T	159546030	C	T	159546030	2	4	22	1	0	0	0	0	0	0	0	1	12897	796	28	2		2	PWWP2A	5	159546030	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28	159546030	21369230	6614	8760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541762.1_Missense_Mutation_p.S78P|CCNJL_ENST00000505287.2_Missense_Mutation_p.S124P|CCNJL_ENST00000519673.1_Missense_Mutation_p.S79P|CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.S79P	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													21	553					0	0	1	0	0	G	159707577	A	G	159707577	3	3	22	1	0	0	0	0	1	0	0	0	2951	304	11	3	1092	3	CCNJL	5	159707577	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	161547	159707577	21207683	6615	8761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541762.1_Silent_p.A11A|CCNJL_ENST00000505287.2_Intron|CCNJL_ENST00000519673.1_Silent_p.A12A|CCNJL_ENST00000377503.2_Intron|CCNJL_ENST00000257536.7_Silent_p.A12A	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													74	396					0	0	1	0	0	A	159738895	G	A	159738895	2	1	22	1	0	0	0	0	0	0	0	1	2951	987	35	2		2	CCNJL	5	159738895	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31318	159738895	21176365	6616	8762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	533					0	0	1	0	0	A	159821708	G	A	159821708	3	1	22	1	0	0	0	0	1	0	0	0	2325	1261	44	2	998	2	C5orf54	5	159821708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82813	159821708	21093552	6617	8763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	148					0	0	1	0	0	A	159834607	G	A	159834607	3	1	22	1	0	0	0	0	1	0	0	0	14809	1203	42	2	783	2	SLU7	5	159834607	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12899	159834607	21080653	6618	8764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	265					0	0	1	0	0	T	159835352	C	T	159835352	3	4	22	1	0	0	0	0	1	0	0	0	14809	884	31	1	993	1	SLU7	5	159835352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	745	159835352	21079908	6619	8765											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	240					0	0	1	0	0	A	160047706	G	A	160047706	2	1	22	1	0	0	0	0	0	0	0	1	1116	1074	38	1		1	ATP10B	5	160047706	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	212354	160047706	20867554	6620	8766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	234					2.47907e-22	2.80423e-22	1	1	0	T	160063213	G	T	160063213	3	4	22	1	0	0	0	0	1	0	0	0	1116	1165	41	2	3345	2	ATP10B	5	160063213	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15507	160063213	20852047	6621	8767											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000517547.1_Silent_p.D228D|GABRB2_ENST00000520240.1_Silent_p.D388D|GABRB2_ENST00000353437.6_Silent_p.D388D|GABRB2_ENST00000393959.1_Silent_p.D426D	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													98	368					0	0	1	0	0	A	160721349	G	A	160721349	2	1	22	1	0	0	0	0	0	0	0	1	6202	1252	44	2		2	GABRB2	5	160721349	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	658136	160721349	20193911	6622	8768											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000517547.1_Silent_p.R177R|GABRB2_ENST00000520240.1_Silent_p.R337R|GABRB2_ENST00000353437.6_Silent_p.R337R|GABRB2_ENST00000393959.1_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													119	537					0	0	1	0	0	A	160757956	G	A	160757956	2	1	22	1	0	0	0	0	0	0	0	1	6202	1190	42	2		2	GABRB2	5	160757956	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36607	160757956	20157304	6623	8769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000416990.2_5'UTR|HMMR_ENST00000353866.3_Missense_Mutation_p.Q52L|HMMR_ENST00000432118.2_Intron|HMMR_ENST00000358715.3_Missense_Mutation_p.Q52L	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													57	205					0	0	1	0	0	T	162891738	A	T	162891738	3	4	22	1	0	0	0	0	1	0	0	0	7283	130	5	5	165	5	HMMR	5	162891738	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2133782	162891738	18023522	6624	8770											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	263					0	0	1	0	0	A	167812302	G	A	167812302	3	1	22	1	0	0	0	0	1	0	0	0	17471	1203	42	2	326	2	WWC1	5	167812302	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4920564	167812302	13102958	6625	8771											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	452					0	0	1	0	0	T	167833206	C	T	167833206	2	4	22	1	0	0	0	0	0	0	0	1	17471	874	31	1		1	WWC1	5	167833206	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20904	167833206	13082054	6626	8772											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	272					0	0	1	0	0	A	167850797	G	A	167850797	3	1	22	1	0	0	0	0	1	0	0	0	17471	1203	42	2	1576	2	WWC1	5	167850797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17591	167850797	13064463	6627	8773											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													163	705					6.23011e-66	7.88058e-66	1	1	0	A	167882444	C	A	167882444	2	1	22	1	0	0	0	0	0	0	0	1	17471	610	22	2		2	WWC1	5	167882444	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31647	167882444	13032816	6628	8774											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	320					0	0	1	0	0	T	167891807	C	T	167891807	3	4	22	1	0	0	0	0	1	0	0	0	17471	768	27	1	3090	1	WWC1	5	167891807	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9363	167891807	13023453	6629	8775											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													135	505					0	0	1	0	0	A	167922434	G	A	167922434	3	1	22	1	0	0	0	0	1	0	0	0	13110	1145	40	1	716	1	RARS	5	167922434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30627	167922434	12992826	6630	8776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	447					0	0	1	0	0	T	167929034	C	T	167929034	2	4	22	1	0	0	0	0	0	0	0	1	13110	535	19	1		1	RARS	5	167929034	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6600	167929034	12986226	6631	8777											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404867.3_Silent_p.C1154C|SLIT3_ENST00000332966.8_Silent_p.C1161C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	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													52	244					0	0	1	0	0	A	168112785	G	A	168112785	2	1	22	1	0	0	0	0	0	0	0	1	14795	1079	38	1		1	SLIT3	5	168112785	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183751	168112785	12802475	6632	8778											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404867.3_Silent_p.G832G|CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000332966.8_Silent_p.G832G	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	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													25	305					3.65163e-15	3.98403e-15	1	1	0	T	168139347	G	T	168139347	2	4	22	1	0	0	0	0	0	0	0	1	14795	1306	46	2		2	SLIT3	5	168139347	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26562	168139347	12775913	6633	8779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404867.3_Missense_Mutation_p.R234W|SLIT3_ENST00000332966.8_Missense_Mutation_p.R234W	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	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													57	245					0	0	1	0	0	A	168244398	G	A	168244398	3	1	22	1	0	0	0	0	1	0	0	0	14795	1144	40	1	3987	1	SLIT3	5	168244398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105051	168244398	12670862	6634	8780											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404867.3_Missense_Mutation_p.F153L|SLIT3_ENST00000332966.8_Missense_Mutation_p.F153L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	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													56	302					6.20203e-27	7.16519e-27	1	1	0	T	168310296	G	T	168310296	3	4	22	1	0	0	0	0	1	0	0	0	14795	1165	41	2	4240	2	SLIT3	5	168310296	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65898	168310296	12604964	6635	8781											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	171					1.59361e-14	1.73214e-14	1	1	0	A	169116331	C	A	169116331	2	1	22	1	0	0	0	0	0	0	0	1	4714	900	32	2		2	DOCK2	5	169116331	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	806035	169116331	11798929	6636	8782											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	412					0	0	1	0	0	A	169138991	G	A	169138991	3	1	22	1	0	0	0	0	1	0	0	0	4714	1058	37	1	1597	1	DOCK2	5	169138991	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22660	169138991	11776269	6637	8783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'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													59	245					2.18419e-29	2.55125e-29	1	1	0	A	169230145	C	A	169230145	3	1	22	1	0	0	0	0	1	0	0	0	4714	680	24	2	2740	2	DOCK2	5	169230145	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91154	169230145	11685115	6638	8784											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540750.1_Missense_Mutation_p.T33I|DOCK2_ENST00000523351.1_3'UTR	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													13	649					0	0	1	0	0	T	169412848	C	T	169412848	3	4	22	1	0	0	0	0	1	0	0	0	4714	507	18	2	3029	2	DOCK2	5	169412848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182703	169412848	11502412	6639	8785											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540750.1_Missense_Mutation_p.R418W|DOCK2_ENST00000523351.1_3'UTR	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													44	217					0	0	1	0	0	T	169474616	C	T	169474616	3	4	22	1	0	0	0	0	1	0	0	0	4714	759	27	1	4227	1	DOCK2	5	169474616	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61768	169474616	11440644	6640	8786											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540750.1_Nonsense_Mutation_p.R657*|DOCK2_ENST00000523351.1_3'UTR	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													126	604					0	0	1	0	0	T	169503008	C	T	169503008	4	4	22	1	0	0	0	0	0	1	0	0	4714	760	27	1	4972	1	DOCK2	5	169503008	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28392	169503008	11412252	6641	8787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				6	41					0	0	1	0	0	T	169533265	C	T	169533265	3	4	22	1	0	0	0	0	1	0	0	0	6043	797	28	2	306	2	FOXI1	5	169533265	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30257	169533265	11381995	6642	8788											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								28	176					1.75199e-13	1.89187e-13	1	1	0	T	170338133	G	T	170338133	3	4	22	1	0	0	0	0	1	0	0	0	13079	942	33	2	781	2	RANBP17	5	170338133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	804868	170338133	10577127	6643	8789											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								16	221					1.45105e-14	1.57787e-14	1	1	0	T	170345732	G	T	170345732	3	4	22	1	0	0	0	0	1	0	0	0	13079	1000	35	2	1008	2	RANBP17	5	170345732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7599	170345732	10569528	6644	8790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170632528C>T	ENST00000523189.1	+	20	2307	c.2142_splice	c.e20-1	p.R715_splice	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								45	212					0	0	1	0	0	T	170632528	C	T	170632528	5	4	22	1	0	0	0	0	0	0	1	0	13079	782	27	1	2221	1	RANBP17	5	170632528	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286796	170632528	10282732	6645	8791											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								243	892					0	0	1	0	0	C	170668042	T	C	170668042	3	2	22	1	0	0	0	0	1	0	0	0	13079	1754	61	3	2623	3	RANBP17	5	170668042	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35514	170668042	10247218	6646	8792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	760					0	0	1	0	0	T	170883635	C	T	170883635	2	4	22	1	0	0	0	0	0	0	0	1	5879	547	19	1		1	FGF18	5	170883635	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	215593	170883635	10031625	6647	8793											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Silent_p.D265D|FBXW11_ENST00000265094.5_Silent_p.D299D	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													59	191					0	0	1	0	0	G	171305026	A	G	171305026	2	3	22	1	0	0	0	0	0	0	0	1	5797	98	4	3		3	FBXW11	5	171305026	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	421391	171305026	9610234	6648	8794											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Missense_Mutation_p.G93D|FBXW11_ENST00000265094.5_Missense_Mutation_p.G127D	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													117	497					0	0	1	0	0	T	171327098	C	T	171327098	3	4	22	1	0	0	0	0	1	0	0	0	5797	739	26	2	1284	2	FBXW11	5	171327098	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22072	171327098	9588162	6649	8795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	290					4.37588e-27	5.05892e-27	1	1	0	A	171532714	C	A	171532714	3	1	22	1	0	0	0	0	1	0	0	0	15342	912	32	2	2142	2	STK10	5	171532714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	205616	171532714	9382546	6650	8796											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	214					0	0	1	0	0	C	171638856	T	C	171638856	3	2	22	1	0	0	0	0	1	0	0	0	16969	1725	60	3	25	3	UBTD2	5	171638856	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	106142	171638856	9276404	6651	8797											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	548					0	0	1	0	0	T	171638977	C	T	171638977	3	4	22	1	0	0	0	0	1	0	0	0	16969	864	30	2	146	2	UBTD2	5	171638977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121	171638977	9276283	6652	8798											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	408					0	0	1	0	0	C	171780895	A	C	171780895	3	2	22	1	0	0	0	0	1	0	0	0	14312	333	12	3	1973	3	SH3PXD2B	5	171780895	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	141918	171780895	9134365	6653	8799											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	136					0	0	1	0	0	A	171821594	G	A	171821594	2	1	22	1	0	0	0	0	0	0	0	1	14312	1190	42	2		2	SH3PXD2B	5	171821594	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40699	171821594	9093666	6654	8800											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173316694G>A	ENST00000265085.5	+	0	1412				CPEB4_ENST00000334035.5_De_novo_Start_InFrame|CPEB4_ENST00000520867.1_De_novo_Start_InFrame|CPEB4_ENST00000519835.1_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													89	440					0	0	1	0	0	A	173316694	G	A	173316694	1	1	22	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	6655	8801											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334035.5_Silent_p.Q84Q|CPEB4_ENST00000520867.1_Silent_p.Q84Q|CPEB4_ENST00000519835.1_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													57	594					0	0	1	0	0	G	173316988	A	G	173316988	2	3	22	1	0	0	0	0	0	0	0	1	3826	40	2	3		3	CPEB4	5	173316988	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	294	173316988	7598272	6656	8802											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334035.5_Missense_Mutation_p.K563T|CPEB4_ENST00000520867.1_Missense_Mutation_p.K555T|CPEB4_ENST00000519835.1_Missense_Mutation_p.K555T|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000517880.1_Missense_Mutation_p.K173T|CPEB4_ENST00000522336.1_Missense_Mutation_p.K190T	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													21	223					0	0	1	0	0	C	173378900	A	C	173378900	3	2	22	1	0	0	0	0	1	0	0	0	3826	14	1	3	1769	3	CPEB4	5	173378900	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	61912	173378900	7536360	6657	8803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	553					0	0	1	0	0	A	174869427	G	A	174869427	3	1	22	1	0	0	0	0	1	0	0	0	4782	1144	40	1	668	1	DRD1	5	174869427	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1490527	174869427	6045833	6658	8804											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	220					0	0	1	0	0	G	174869930	A	G	174869930	3	3	22	1	0	0	0	0	1	0	0	0	4782	159	6	3	1171	3	DRD1	5	174869930	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	503	174869930	6045330	6659	8805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	220					0	0	1	0	0	C	174919199	A	C	174919199	2	2	22	1	0	0	0	0	0	0	0	1	14248	349	13	3		3	SFXN1	5	174919199	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49269	174919199	5996061	6660	8806											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	81					0	0	1	0	0	T	174937166	C	T	174937166	2	4	22	1	0	0	0	0	0	0	0	1	14248	871	31	1		1	SFXN1	5	174937166	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17967	174937166	5978094	6661	8807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	236					0	0	1	0	0	T	174940559	C	T	174940559	2	4	22	1	0	0	0	0	0	0	0	1	14248	871	31	1		1	SFXN1	5	174940559	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3393	174940559	5974701	6662	8808	52	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	269					0	0	1	0	0	T	174940564	C	T	174940564	3	4	22	1	0	0	0	0	1	0	0	0	14248	855	30	2	717	2	SFXN1	5	174940564	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	174940564	5974696	6663	8809	52	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	324					0.00448238	0.00451339	1	1	0	T	175110665	G	T	175110665	3	4	22	1	0	0	0	0	1	0	0	0	7397	1241	43	2	431	2	HRH2	5	175110665	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	170101	175110665	5804595	6664	8810											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	437					2.09667e-21	2.36065e-21	1	1	0	A	175110875	C	A	175110875	2	1	22	1	0	0	0	0	0	0	0	1	7397	581	21	2		2	HRH2	5	175110875	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	210	175110875	5804385	6665	8811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393725.2_Missense_Mutation_p.Q223H|KIAA1191_ENST00000510164.1_Missense_Mutation_p.Q242H|KIAA1191_ENST00000393728.2_5'UTR	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													13	524					0.00136819	0.0013818	1	1	0	A	175774795	C	A	175774795	3	1	22	1	0	0	0	0	1	0	0	0	8254	680	24	2	195	2	KIAA1191	5	175774795	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	663920	175774795	5140465	6666	8812											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													164	433					0	0	1	0	0	A	175798762	G	A	175798762	3	1	22	1	0	0	0	0	1	0	0	0	923	1116	39	1	613	1	ARL10	5	175798762	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23967	175798762	5116498	6667	8813											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	199					0	0	1	0	0	T	175843361	C	T	175843361	3	4	22	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	6668	8814											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	377					0	0	1	0	0	G	175913437	A	G	175913437	3	3	22	1	0	0	0	0	1	0	0	0	5401	362	13	3	224	3	FAF2	5	175913437	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	70076	175913437	5001823	6669	8815											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													160	366					2.95651e-86	3.79019e-86	1	1	0	A	175921013	C	A	175921013	3	1	22	1	0	0	0	0	1	0	0	0	5401	739	26	2	519	2	FAF2	5	175921013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7576	175921013	4994247	6670	8816											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000261944.5_Missense_Mutation_p.D412N|CDHR2_ENST00000506348.1_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													7	93					0	0	1	0	0	A	176004439	G	A	176004439	3	1	22	1	0	0	0	0	1	0	0	0	3141	1058	37	1	1280	1	CDHR2	5	176004439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83426	176004439	4910821	6671	8817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000261944.5_Missense_Mutation_p.E421D|CDHR2_ENST00000506348.1_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													32	81					3.57733e-08	3.7302e-08	1	1	0	T	176004468	G	T	176004468	3	4	22	1	0	0	0	0	1	0	0	0	3141	962	34	2	1309	2	CDHR2	5	176004468	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29	176004468	4910792	6672	8818											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176005098T>C	ENST00000510636.1	+	15	1848		c.e15+2		CDHR2_ENST00000261944.5_Splice_Site|CDHR2_ENST00000506348.1_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													36	118					0	0	1	0	0	C	176005098	T	C	176005098	5	2	22	1	0	0	0	0	0	0	1	0	3141	1652	57	3	1630	3	CDHR2	5	176005098	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	630	176005098	4910162	6673	8819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000261944.5_Silent_p.T1042T|CDHR2_ENST00000506348.1_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													54	288					0	0	1	0	0	T	176016537	C	T	176016537	2	4	22	1	0	0	0	0	0	0	0	1	3141	639	23	1		1	CDHR2	5	176016537	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11439	176016537	4898723	6674	8820											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000261944.5_Silent_p.D1250D|CDHR2_ENST00000506348.1_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													8	352					0	0	1	0	0	T	176019739	C	T	176019739	2	4	22	1	0	0	0	0	0	0	0	1	3141	535	19	1		1	CDHR2	5	176019739	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3202	176019739	4895521	6675	8821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	319					0	0	1	0	0	A	176053475	G	A	176053475	3	1	22	1	0	0	0	0	1	0	0	0	14896	971	34	2	210	2	SNCB	5	176053475	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33736	176053475	4861785	6676	8822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508164.1_Missense_Mutation_p.V206I|TSPAN17_ENST00000515708.1_Missense_Mutation_p.V206I|TSPAN17_ENST00000503045.1_Missense_Mutation_p.V183I|TSPAN17_ENST00000405525.2_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													92	250					0	0	1	0	0	A	176083112	G	A	176083112	3	1	22	1	0	0	0	0	1	0	0	0	16702	1145	40	1	638	1	TSPAN17	5	176083112	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29637	176083112	4832148	6677	8823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	126					0	0	1	0	0	T	176304689	C	T	176304689	2	4	22	1	0	0	0	0	0	0	0	1	17051	776	27	1		1	UNC5A	5	176304689	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221577	176304689	4610571	6678	8824											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	684					0	0	1	0	0	A	176306485	G	A	176306485	3	1	22	1	0	0	0	0	1	0	0	0	17051	1174	41	2	2413	2	UNC5A	5	176306485	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1796	176306485	4608775	6679	8825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	220					0	0	1	0	0	A	176308126	G	A	176308126	3	1	22	1	0	0	0	0	1	0	0	0	7233	1087	38	1	55	1	HK3	5	176308126	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1641	176308126	4607134	6680	8826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													230	1419					0	0	1	0	0	A	176317669	G	A	176317669	2	1	22	1	0	0	0	0	0	0	0	1	7233	1161	41	2		2	HK3	5	176317669	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9543	176317669	4597591	6681	8827											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	281					1.70349e-48	2.10302e-48	1	1	0	A	176318184	C	A	176318184	3	1	22	1	0	0	0	0	1	0	0	0	7233	913	32	2	2567	2	HK3	5	176318184	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	515	176318184	4597076	6682	8828											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358149.3_Missense_Mutation_p.L218P|ZNF346_ENST00000506693.1_Missense_Mutation_p.L120P|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000511834.1_Missense_Mutation_p.L234P|ZNF346_ENST00000261948.4_Missense_Mutation_p.L243P			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													10	398					0	0	1	0	0	C	176477887	T	C	176477887	3	2	22	1	0	0	0	0	1	0	0	0	17917	1522	53	3	671	3	ZNF346	5	176477887	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	159703	176477887	4437373	6683	8829	53	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358149.3_Missense_Mutation_p.A220T|ZNF346_ENST00000506693.1_Missense_Mutation_p.A122T|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000511834.1_Missense_Mutation_p.A236T|ZNF346_ENST00000261948.4_Missense_Mutation_p.A245T			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													82	324					0	0	1	0	0	A	176477892	G	A	176477892	3	1	22	1	0	0	0	0	1	0	0	0	17917	1203	42	2	676	2	ZNF346	5	176477892	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	176477892	4437368	6684	8830	53	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393637.1_Missense_Mutation_p.R171C|FGFR4_ENST00000292410.3_Missense_Mutation_p.R171C|FGFR4_ENST00000502906.1_Missense_Mutation_p.R171C|FGFR4_ENST00000393648.2_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)			71	153					0	0	1	0	0	T	176518013	C	T	176518013	3	4	22	1	0	0	0	0	1	0	0	0	5901	652	23	1	525	1	FGFR4	5	176518013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40121	176518013	4397247	6685	8831											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393637.1_Missense_Mutation_p.L474M|FGFR4_ENST00000292410.3_Missense_Mutation_p.L474M|FGFR4_ENST00000502906.1_Missense_Mutation_p.L514M|FGFR4_ENST00000393648.2_Missense_Mutation_p.L446M	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)			12	350					0.0135373	0.0136081	1	1	0	A	176522351	C	A	176522351	3	1	22	1	0	0	0	0	1	0	0	0	5901	680	24	2	1652	2	FGFR4	5	176522351	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4338	176522351	4392909	6686	8832											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			144	385					3.11569e-49	3.85304e-49	1	1	0	A	176638654	C	A	176638654	3	1	22	1	0	0	0	0	1	0	0	0	10717	681	24	2	3268	2	NSD1	5	176638654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116303	176638654	4276606	6687	8833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			17	213					0	0	1	0	0	A	176639155	G	A	176639155	3	1	22	1	0	0	0	0	1	0	0	0	10717	1174	41	2	3769	2	NSD1	5	176639155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	501	176639155	4276105	6688	8834											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			81	244					0	0	1	0	0	T	176722104	C	T	176722104	4	4	22	1	0	0	0	0	0	1	0	0	10717	711	25	2	7821	2	NSD1	5	176722104	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82949	176722104	4193156	6689	8835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000303251.6_Missense_Mutation_p.R79W|RAB24_ENST00000393611.2_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													124	591					0	0	1	0	0	A	176729783	G	A	176729783	3	1	22	1	0	0	0	0	1	0	0	0	12963	1057	37	1	400	1	RAB24	5	176729783	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7679	176729783	4185477	6690	8836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	282					0	0	1	0	0	T	176764242	C	T	176764242	3	4	22	1	0	0	0	0	1	0	0	0	8879	884	31	1	397	1	LMAN2	5	176764242	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34459	176764242	4151018	6691	8837											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	742					0	0	1	0	0	T	176778195	C	T	176778195	2	4	22	1	0	0	0	0	0	0	0	1	8879	680	24	2		2	LMAN2	5	176778195	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13953	176778195	4137065	6692	8838											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	61					6.40141e-05	6.5221e-05	1	1	0	T	176785034	G	T	176785034	2	4	22	1	0	0	0	0	0	0	0	1	13347	1161	41	2		2	RGS14	5	176785034	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6839	176785034	4130226	6693	8839											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	259					0	0	1	0	0	T	176795177	C	T	176795177	2	4	22	1	0	0	0	0	0	0	0	1	13347	535	19	1		1	RGS14	5	176795177	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10143	176795177	4120083	6694	8840											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	204					0	0	1	0	0	T	176813105	C	T	176813105	3	4	22	1	0	0	0	0	1	0	0	0	14622	739	26	2	233	2	SLC34A1	5	176813105	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17928	176813105	4102155	6695	8841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	454					0	0	1	0	0	T	176813505	C	T	176813505	3	4	22	1	0	0	0	0	1	0	0	0	14622	507	18	2	484	2	SLC34A1	5	176813505	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	400	176813505	4101755	6696	8842											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	294					0	0	1	0	0	C	176820710	T	C	176820710	3	2	22	1	0	0	0	0	1	0	0	0	14622	1667	58	3	1073	3	SLC34A1	5	176820710	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7205	176820710	4094550	6697	8843											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				34	103					1.99505e-19	2.22584e-19	1	1	0	A	176830605	C	A	176830605	3	1	22	1	0	0	0	0	1	0	0	0	5367	855	30	2	599	2	F12	5	176830605	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9895	176830605	4084655	6698	8844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393576.3_Silent_p.C57C|GRK6_ENST00000528793.1_Silent_p.C57C|GRK6_ENST00000355958.5_Silent_p.C57C|GRK6_ENST00000507633.1_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													198	627					0	0	1	0	0	T	176859018	C	T	176859018	2	4	22	1	0	0	0	0	0	0	0	1	6834	776	27	1		1	GRK6	5	176859018	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28413	176859018	4056242	6699	8845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393576.3_Missense_Mutation_p.A202T|GRK6_ENST00000528793.1_Missense_Mutation_p.A202T|GRK6_ENST00000355958.5_Missense_Mutation_p.A202T|GRK6_ENST00000507633.1_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													150	304					0	0	1	0	0	A	176860543	G	A	176860543	3	1	22	1	0	0	0	0	1	0	0	0	6834	1087	38	1	634	1	GRK6	5	176860543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1525	176860543	4054717	6700	8846											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393576.3_Silent_p.K453K|GRK6_ENST00000528793.1_Silent_p.K487K|GRK6_ENST00000355958.5_Silent_p.K487K|PRR7-AS1_ENST00000425316.3_RNA	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													97	339					0	0	1	0	0	A	176867757	G	A	176867757	2	1	22	1	0	0	0	0	0	0	0	1	6834	991	35	2		2	GRK6	5	176867757	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7214	176867757	4047503	6701	8847											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512501.1_Silent_p.V163V|DBN1_ENST00000393565.1_Silent_p.V477V|DBN1_ENST00000393563.4_Silent_p.V163V|DBN1_ENST00000309007.5_Silent_p.V431V	NM_080881.2	NP_543157.1	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													64	384					0	0	1	0	0	A	176885542	G	A	176885542	2	1	22	1	0	0	0	0	0	0	0	1	4276	1161	41	2		2	DBN1	5	176885542	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17785	176885542	4029718	6702	8848											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512501.1_Missense_Mutation_p.T67M|DBN1_ENST00000393565.1_Missense_Mutation_p.T381M|DBN1_ENST00000393563.4_Missense_Mutation_p.T67M|DBN1_ENST00000309007.5_Missense_Mutation_p.T335M	NM_080881.2	NP_543157.1	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													14	651					0	0	1	0	0	A	176886221	G	A	176886221	3	1	22	1	0	0	0	0	1	0	0	0	4276	1145	40	1	961	1	DBN1	5	176886221	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	679	176886221	4029039	6703	8849											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357198.4_Missense_Mutation_p.G393V|DOK3_ENST00000312943.6_Intron|DOK3_ENST00000377112.4_Intron			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													7	114					0.00198382	0.00200138	1	1	0	A	176931297	C	A	176931297	3	1	22	1	0	0	0	0	1	0	0	0	4725	739	26	2	668	2	DOK3	5	176931297	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45076	176931297	3983963	6704	8850											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	867					0	0	1	0	0	T	176940011	C	T	176940011	5	4	22	1	0	0	0	0	0	0	1	0	4384	492	17	2	589	2	DDX41	5	176940011	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8714	176940011	3975249	6705	8851											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	195					0	0	1	0	0	A	176951655	G	A	176951655	2	1	22	1	0	0	0	0	0	0	0	1	5557	1103	39	1		1	FAM193B	5	176951655	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11644	176951655	3963605	6706	8852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	47					0	0	1	0	0	A	176959576	G	A	176959576	2	1	22	1	0	0	0	0	0	0	0	1	5557	1079	38	1		1	FAM193B	5	176959576	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7921	176959576	3955684	6707	8853											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	18	61					0	0	1	0	0	A	177034312	G	A	177034312	2	1	22	1	0	0	0	0	0	0	0	1	1274	1219	43	2		2	B4GALT7	5	177034312	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74736	177034312	3880948	6708	8854											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_006252.3	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													29	73					0	0	1	0	0	T	177419780	C	T	177419780	3	4	22	1	0	0	0	0	1	0	0	0	12609	739	26	2	73	2	PROP1	5	177419780	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	385468	177419780	3495480	6709	8855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_006252.3	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													75	361					0	0	1	0	0	T	177421242	C	T	177421242	2	4	22	1	0	0	0	0	0	0	0	1	12609	726	26	2		2	PROP1	5	177421242	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1462	177421242	3494018	6710	8856											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	322					0	0	1	0	0	T	177546611	C	T	177546611	2	4	22	1	0	0	0	0	0	0	0	1	10161	697	25	2		2	N4BP3	5	177546611	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125369	177546611	3368649	6711	8857											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	242					1.17739e-12	1.26592e-12	1	1	0	T	177547263	G	T	177547263	3	4	22	1	0	0	0	0	1	0	0	0	10161	1000	35	2	421	2	N4BP3	5	177547263	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	652	177547263	3367997	6712	8858											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													149	479					4.44197e-71	5.64539e-71	1	1	0	A	177547450	C	A	177547450	3	1	22	1	0	0	0	0	1	0	0	0	10161	681	24	2	608	2	N4BP3	5	177547450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187	177547450	3367810	6713	8859											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542098.1_Silent_p.V59V|RMND5B_ENST00000313386.4_Silent_p.V72V			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													184	494					0	0	1	0	0	A	177569660	G	A	177569660	2	1	22	1	0	0	0	0	0	0	0	1	13450	1306	46	2		2	RMND5B	5	177569660	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22210	177569660	3345600	6714	8860											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504898.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000506259.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000506339.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000355836.5_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													13	599					0	0	1	0	0	C	177633812	T	C	177633812	3	2	22	1	0	0	0	0	1	0	0	0	7302	1696	59	3	468	3	HNRNPAB	5	177633812	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64152	177633812	3281448	6715	8861											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	269					9.10829e-22	1.02804e-21	1	1	0	A	178139061	C	A	178139061	4	1	22	1	0	0	0	0	0	0	0	0	17921	924	32	2	3	2	ZNF354A	5	178139061	Nonstop_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	505249	178139061	2776199	6716	8862											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	459					0	0	1	0	0	C	178139568	A	C	178139568	3	2	22	1	0	0	0	0	1	0	0	0	17921	11	1	3	510	3	ZNF354A	5	178139568	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	507	178139568	2775692	6717	8863											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													141	682					0	0	1	0	0	T	178152398	C	T	178152398	3	4	22	1	0	0	0	0	1	0	0	0	17921	652	23	1	1590	1	ZNF354A	5	178152398	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12830	178152398	2762862	6718	8864											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													172	511					0	0	1	0	0	C	178310195	T	C	178310195	2	2	22	1	0	0	0	0	0	0	0	1	17922	1838	64	3		3	ZNF354B	5	178310195	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	157797	178310195	2605065	6719	8865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	381					0	0	1	0	0	C	178310832	A	C	178310832	3	2	22	1	0	0	0	0	1	0	0	0	17922	217	8	3	1393	3	ZNF354B	5	178310832	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	637	178310832	2604428	6720	8866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	265					0	0	1	0	0	C	178358719	T	C	178358719	2	2	22	1	0	0	0	0	0	0	0	1	17699	1702	59	3		3	ZFP2	5	178358719	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47887	178358719	2556541	6721	8867											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.P801T	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													66	339					3.07281e-33	3.63882e-33	1	1	0	T	178409946	G	T	178409946	3	4	22	1	0	0	0	0	1	0	0	0	6842	1203	42	2	240	2	GRM6	5	178409946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51227	178409946	2505314	6722	8868											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.V534I	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													89	284					0	0	1	0	0	T	178413655	C	T	178413655	3	4	22	1	0	0	0	0	1	0	0	0	6842	536	19	1	1045	1	GRM6	5	178413655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3709	178413655	2501605	6723	8869											
GRM6	2916	broad.mit.edu	37	chr5	178413684	178413684	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatcttcttccgctcccccGgcccgcagggcaggctgcac	10	20	2	0	rs143491269	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178413684G>T	ENST00000231188.5	-	8	1749	c.1571C>A	c.(1570-1572)cCg>cAg	p.P524Q	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.P524Q	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	524					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)		CCGCTCCCCCGGCCCGCAGGG	0.677													84	252					2.84431e-33	3.36965e-33	1	1	0	T	178413684	G	T	178413684	3	4	22	1	0	0	0	0	1	0	0	0	6842	1116	39	4	1074	4	GRM6	5	178413684	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29	178413684	2501576	6724	8870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Silent_p.G508G	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													34	255					0	0	1	0	0	A	178413731	G	A	178413731	2	1	22	1	0	0	0	0	0	0	0	1	6842	1074	38	1		1	GRM6	5	178413731	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47	178413731	2501529	6725	8871											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													196	1060					0	0	1	0	0	T	178506423	C	T	178506423	2	4	22	1	0	0	0	0	0	0	0	1	17923	776	27	1		1	ZNF354C	5	178506423	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92692	178506423	2408837	6726	8872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	1033					0	0	1	0	0	T	178552119	C	T	178552119	3	4	22	1	0	0	0	0	1	0	0	0	264	768	27	1	838	1	ADAMTS2	5	178552119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45696	178552119	2363141	6727	8873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													131	725					0	0	1	0	0	T	178553085	C	T	178553085	2	4	22	1	0	0	0	0	0	0	0	1	264	912	32	2		2	ADAMTS2	5	178553085	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	966	178553085	2362175	6728	8874											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393438.2_Missense_Mutation_p.G27C|RUFY1_ENST00000437570.2_Missense_Mutation_p.G27C|RUFY1_ENST00000319449.4_Missense_Mutation_p.G135C			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)			37	109					5.04308e-16	5.52873e-16	1	1	0	T	178987118	G	T	178987118	3	4	22	1	0	0	0	0	1	0	0	0	13790	1232	43	2	409	2	RUFY1	5	178987118	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	434033	178987118	1928142	6729	8875											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000511300.2_Missense_Mutation_p.G96E|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G366E|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.G366E|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G366E|HNRNPH1_ENST00000393432.4_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													137	453					0	0	1	0	0	T	179044072	C	T	179044072	3	4	22	1	0	0	0	0	1	0	0	0	7307	855	30	2	268	2	HNRNPH1	5	179044072	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56954	179044072	1871188	6730	8876											
HNRNPH1	3187	broad.mit.edu	37	chr5	179044893	179044893	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtagagccaccatccccGtatctgtgatcagacattcc	7	13	2	3	rs78795662	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179044893G>A	ENST00000356731.5	-	7	2363	c.828C>T	c.(826-828)taC>taT	p.Y276Y	HNRNPH1_ENST00000511300.2_Silent_p.Y6Y|HNRNPH1_ENST00000510411.1_Silent_p.Y276Y|HNRNPH1_ENST00000442819.2_Silent_p.Y276Y|HNRNPH1_ENST00000329433.6_Silent_p.Y276Y|HNRNPH1_ENST00000393432.4_Silent_p.Y276Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	276	2 X 16 AA Gly-rich approximate 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						CACCATCCCCGTATCTGTGAT	0.418													101	270					0	0	1	0	0	A	179044893	G	A	179044893	2	1	22	1	0	0	0	0	0	0	0	1	7307	1140	40	1		1	HNRNPH1	5	179044893	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	821	179044893	1870367	6731	8877											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	151					0	0	1	0	0	T	179192579	C	T	179192579	3	4	22	1	0	0	0	0	1	0	0	0	9255	768	27	1	574	1	MAML1	5	179192579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147686	179192579	1722681	6732	8878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	319					6.07242e-22	6.85844e-22	1	1	0	A	179193073	C	A	179193073	2	1	22	1	0	0	0	0	0	0	0	1	9255	610	22	2		2	MAML1	5	179193073	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	494	179193073	1722187	6733	8879											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	462					0	0	1	0	0	A	179193167	G	A	179193167	3	1	22	1	0	0	0	0	1	0	0	0	9255	1232	43	2	1162	2	MAML1	5	179193167	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94	179193167	1722093	6734	8880											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	216					0	0	1	0	0	T	179201461	C	T	179201461	2	4	22	1	0	0	0	0	0	0	0	1	9255	738	26	2		2	MAML1	5	179201461	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8294	179201461	1713799	6735	8881											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	629					0	0	1	0	0	C	179201852	T	C	179201852	2	2	22	1	0	0	0	0	0	0	0	1	9255	1838	64	3		3	MAML1	5	179201852	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	391	179201852	1713408	6736	8882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	624					0	0	1	0	0	C	179227252	T	C	179227252	3	2	22	1	0	0	0	0	1	0	0	0	9596	1667	58	3	955	3	MGAT4B	5	179227252	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25400	179227252	1688008	6737	8883											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376929.3_Missense_Mutation_p.S192Y|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S192Y|SQSTM1_ENST00000360718.5_Missense_Mutation_p.S192Y|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S276Y	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													66	190					7.46257e-40	9.03299e-40	1	1	0	A	179260104	C	A	179260104	3	1	22	1	0	0	0	0	1	0	0	0	15186	855	30	2	849	2	SQSTM1	5	179260104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32852	179260104	1655156	6738	8884	54	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376929.3_Missense_Mutation_p.S193I|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S193I|SQSTM1_ENST00000360718.5_Missense_Mutation_p.S193I|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S277I	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													34	222					4.00102e-26	4.60546e-26	1	1	0	T	179260107	G	T	179260107	3	4	22	1	0	0	0	0	1	0	0	0	15186	971	34	2	852	2	SQSTM1	5	179260107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3	179260107	1655153	6739	8885	54	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	C5orf45_ENST00000523084.1_Silent_p.F205F|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000376931.2_Silent_p.F284F|C5orf45_ENST00000523267.1_5'UTR|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000518235.1_Intron	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													316	923					0	0	1	0	0	A	179264406	G	A	179264406	2	1	22	1	0	0	0	0	0	0	0	1	2319	1049	37	1		1	C5orf45	5	179264406	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4299	179264406	1650854	6740	8886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000523084.1_5'UTR|C5orf45_ENST00000520698.1_Silent_p.D59D|C5orf45_ENST00000403396.2_Silent_p.D156D|C5orf45_ENST00000376931.2_Silent_p.D59D|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000518235.1_Silent_p.D114D|C5orf45_ENST00000292586.6_Silent_p.D114D			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													454	2080					0	0	1	0	0	A	179269014	G	A	179269014	2	1	22	1	0	0	0	0	0	0	0	1	2319	1020	36	2		2	C5orf45	5	179269014	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4608	179269014	1646246	6741	8887											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000523084.1_Intron|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000403396.2_Silent_p.A85A|C5orf45_ENST00000376931.2_Intron|C5orf45_ENST00000521333.1_Silent_p.A43A|C5orf45_ENST00000518235.1_Silent_p.A43A|C5orf45_ENST00000292586.6_Silent_p.A43A			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													104	281					0	0	1	0	0	C	179275064	A	C	179275064	2	2	22	1	0	0	0	0	0	0	0	1	2319	59	3	3		3	C5orf45	5	179275064	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6050	179275064	1640196	6742	8888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.D1029G|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.D187G	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													63	181					0	0	1	0	0	C	179291064	T	C	179291064	3	2	22	1	0	0	0	0	1	0	0	0	15688	1667	58	3	619	3	TBC1D9B	5	179291064	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16000	179291064	1624196	6743	8889											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													119	378					6.25559e-39	7.55242e-39	1	1	0	A	179302094	C	A	179302094	3	1	22	1	0	0	0	0	1	0	0	0	15688	797	28	2	1802	2	TBC1D9B	5	179302094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11030	179302094	1613166	6744	8890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000522500.1_Missense_Mutation_p.S206N|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.S357N			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													103	473					0	0	1	0	0	T	179545622	C	T	179545622	3	4	22	1	0	0	0	0	1	0	0	0	13123	797	28	2	350	2	RASGEF1C	5	179545622	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	243528	179545622	1369638	6745	8891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393360.3_Silent_p.I337I|MAPK9_ENST00000455781.1_Silent_p.I337I|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000347470.4_Silent_p.I252I|MAPK9_ENST00000343111.6_Silent_p.I337I			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													69	320					0	0	1	0	0	T	179666973	A	T	179666973	2	4	22	1	0	0	0	0	0	0	0	1	9337	10	1	5		5	MAPK9	5	179666973	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	121351	179666973	1248287	6746	8892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393360.3_Missense_Mutation_p.C177Y|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000455781.1_Missense_Mutation_p.C177Y|MAPK9_ENST00000425491.2_Missense_Mutation_p.C177Y|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000539014.1_Missense_Mutation_p.C177Y|MAPK9_ENST00000347470.4_Missense_Mutation_p.C177Y|MAPK9_ENST00000343111.6_Missense_Mutation_p.C177Y			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													285	896					0	0	1	0	0	T	179676059	C	T	179676059	3	4	22	1	0	0	0	0	1	0	0	0	9337	710	25	2	894	2	MAPK9	5	179676059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9086	179676059	1239201	6747	8893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	164					0	0	1	0	0	C	179743450	A	C	179743450	2	2	22	1	0	0	0	0	0	0	0	1	6388	1	1	3		3	GFPT2	5	179743450	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67391	179743450	1171810	6748	8894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	151					0	0	1	0	0	C	179758500	A	C	179758500	3	2	22	1	0	0	0	0	1	0	0	0	6388	101	4	3	1714	3	GFPT2	5	179758500	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15050	179758500	1156760	6749	8895											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	706					0	0	1	0	0	T	180038401	C	T	180038401	3	4	22	1	0	0	0	0	1	0	0	0	5977	739	26	2	499	2	FLT4	5	180038401	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279901	180038401	876859	6750	8896											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													135	458					0	0	1	0	0	T	180046743	C	T	180046743	3	4	22	1	0	0	0	0	1	0	0	0	5977	652	23	1	1582	1	FLT4	5	180046743	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8342	180046743	868517	6751	8897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000502649.1_Silent_p.F366F|FLT4_ENST00000424276.2_5'UTR|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													48	239					0	0	1	0	0	A	180055887	G	A	180055887	2	1	22	1	0	0	0	0	0	0	0	1	5977	1165	41	2		2	FLT4	5	180055887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9144	180055887	859373	6752	8898											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000502649.1_Missense_Mutation_p.L234M|FLT4_ENST00000424276.2_5'UTR|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													34	99					1.62565e-12	1.74646e-12	1	1	0	T	180056812	G	T	180056812	3	4	22	1	0	0	0	0	1	0	0	0	5977	962	34	2	3499	2	FLT4	5	180056812	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	925	180056812	858448	6753	8899											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000502649.1_Missense_Mutation_p.A118V|FLT4_ENST00000424276.2_5'UTR|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													97	237					0	0	1	0	0	A	180057602	G	A	180057602	3	1	22	1	0	0	0	0	1	0	0	0	5977	1319	46	2	3858	2	FLT4	5	180057602	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	790	180057602	857658	6754	8900											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427865.2_Missense_Mutation_p.A398T|MGAT1_ENST00000393340.3_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													92	247					0	0	1	0	0	T	180218780	C	T	180218780	3	4	22	1	0	0	0	0	1	0	0	0	9592	768	27	1	149	1	MGAT1	5	180218780	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161178	180218780	696480	6755	8901											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400707.3_Missense_Mutation_p.G259E|BTNL8_ENST00000511704.1_Missense_Mutation_p.G268E|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000533815.2_Missense_Mutation_p.G200E|BTNL8_ENST00000505126.1_Missense_Mutation_p.G177E|BTNL8_ENST00000508408.1_3'UTR	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													105	282					0	0	1	0	0	A	180377192	G	A	180377192	3	1	22	1	0	0	0	0	1	0	0	0	1570	1174	41	2	1337	2	BTNL8	5	180377192	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158412	180377192	538068	6756	8902											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	706					0	0	1	0	0	T	180424256	C	T	180424256	2	4	22	1	0	0	0	0	0	0	0	1	1569	535	19	1		1	BTNL3	5	180424256	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47064	180424256	491004	6757	8903											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	506					1.05317e-09	1.11087e-09	1	1	0	T	180424301	G	T	180424301	3	4	22	1	0	0	0	0	1	0	0	0	1569	962	34	2	496	2	BTNL3	5	180424301	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	180424301	490959	6758	8904											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	270					0	0	1	0	0	G	180432639	A	G	180432639	3	3	22	1	0	0	0	0	1	0	0	0	1569	159	6	3	1198	3	BTNL3	5	180432639	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8338	180432639	482621	6759	8905											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515271.1_Missense_Mutation_p.V13M|BTNL9_ENST00000376841.2_Missense_Mutation_p.V82M|BTNL9_ENST00000376842.3_Missense_Mutation_p.V82M	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													47	144					0	0	1	0	0	A	180475061	G	A	180475061	3	1	22	1	0	0	0	0	1	0	0	0	1571	1377	48	2	250	2	BTNL9	5	180475061	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42422	180475061	440199	6760	8906											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515271.1_Silent_p.A183A|BTNL9_ENST00000376841.2_Silent_p.A252A|BTNL9_ENST00000376842.3_Silent_p.A252A|BTNL9_ENST00000511589.1_3'UTR	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													20	76					1.10923e-09	1.16946e-09	1	1	0	A	180480219	C	A	180480219	2	1	22	1	0	0	0	0	0	0	0	1	1571	668	24	2		2	BTNL9	5	180480219	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5158	180480219	435041	6761	8907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	94					0.000442599	0.000448314	1	1	0	A	180486818	C	A	180486818	3	1	22	1	0	0	0	0	1	0	0	0	1571	796	28	2	1602	2	BTNL9	5	180486818	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6599	180486818	428442	6762	8908											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393319.3_Silent_p.F316F|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000361809.3_Silent_p.F290F|TRIM7_ENST00000274773.7_Silent_p.F498F	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													44	147					0	0	1	0	0	A	180622208	G	A	180622208	2	1	22	1	0	0	0	0	0	0	0	1	16604	933	33	2		2	TRIM7	5	180622208	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135390	180622208	293052	6763	8909											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Silent_p.S259S	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													97	313					0	0	1	0	0	T	180651776	C	T	180651776	2	4	22	1	0	0	0	0	0	0	0	1	16577	767	27	1		1	TRIM41	5	180651776	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29568	180651776	263484	6764	8910											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000510072.1_3'UTR|TRIM41_ENST00000351937.5_Intron	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													128	682					0	0	1	0	0	T	180661696	C	T	180661696	3	4	22	1	0	0	0	0	1	0	0	0	16577	893	31	1	1836	1	TRIM41	5	180661696	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9920	180661696	253564	6765	8911											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	220					0	0	1	0	0	A	180687720	G	A	180687720	3	1	22	1	0	0	0	0	1	0	0	0	16588	1174	41	2	806	2	TRIM52	5	180687720	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26024	180687720	227540	6766	8912											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:345913G>A	ENST00000604971.1	+	0	1052				DUSP22_ENST00000603453.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000419235.2_Missense_Mutation_p.S83N|DUSP22_ENST00000344450.5_Missense_Mutation_p.S83N|DUSP22_ENST00000605035.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000605863.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000605315.1_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													51	362					0	0	1	0	0	A	345913	G	A	345913	1	1	22	1	0	0	0	0	0	0	0	0	4847	971	34	2		2	DUSP22	6	345913	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08		345913	170769154	6767	8913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_018303.4	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													68	322					0	0	1	0	0	A	532557	G	A	532557	2	1	22	1	0	0	0	0	0	0	0	1	5329	1048	37	1		1	EXOC2	6	532557	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	186644	532557	170582510	6768	8914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													185	779					0	0	1	0	0	T	656306	C	T	656306	2	4	22	1	0	0	0	0	0	0	0	1	7504	639	23	1		1	HUS1B	6	656306	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123749	656306	170458761	6769	8915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	154					0	0	1	0	0	T	656841	C	T	656841	3	4	22	1	0	0	0	0	1	0	0	0	7504	768	27	1	736	1	HUS1B	6	656841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	535	656841	170458226	6770	8916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	166					0	0	1	0	0	A	1390839	G	A	1390839	2	1	22	1	0	0	0	0	0	0	0	1	6040	1074	38	1		1	FOXF2	6	1390839	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	733998	1390839	169724228	6771	8917											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	73					0	0	1	0	0	A	1391220	G	A	1391220	2	1	22	1	0	0	0	0	0	0	0	1	6040	1074	38	1		1	FOXF2	6	1391220	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	381	1391220	169723847	6772	8918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	578					0	0	1	0	0	C	1610993	T	C	1610993	3	2	22	1	0	0	0	0	1	0	0	0	6027	1522	53	3	315	3	FOXC1	6	1610993	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	219773	1610993	169504074	6773	8919											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000530927.1_Silent_p.G304G|GMDS_ENST00000467288.2_5'UTR	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													5	181					0	0	1	0	0	A	1624761	G	A	1624761	2	1	22	1	0	0	0	0	0	0	0	1	6528	1074	38	1		1	GMDS	6	1624761	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13768	1624761	169490306	6774	8920											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	473					0	0	1	0	0	T	2679691	C	T	2679691	3	4	22	1	0	0	0	0	1	0	0	0	10107	899	31	1		1	MYLK4	6	2679691	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1054930	2679691	168435376	6775	8921											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													149	734					0	0	1	0	0	T	2685594	C	T	2685594	3	4	22	1	0	0	0	0	1	0	0	0	10107	768	27	1	713	1	MYLK4	6	2685594	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5903	2685594	168429473	6776	8922											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380773.4_Missense_Mutation_p.P406T|WRNIP1_ENST00000380764.1_Missense_Mutation_p.P22T|WRNIP1_ENST00000380771.4_Missense_Mutation_p.P381T			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													25	282					1.12875e-08	1.18168e-08	1	1	0	A	2770555	C	A	2770555	3	1	22	1	0	0	0	0	1	0	0	0	17463	855	30	2	1226	2	WRNIP1	6	2770555	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84961	2770555	168344512	6777	8923											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380773.4_Missense_Mutation_p.P552L|WRNIP1_ENST00000380764.1_Missense_Mutation_p.P168L|WRNIP1_ENST00000380771.4_Missense_Mutation_p.P527L			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													33	102					0	0	1	0	0	T	2784570	C	T	2784570	3	4	22	1	0	0	0	0	1	0	0	0	17463	652	23	1	1677	1	WRNIP1	6	2784570	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14015	2784570	168330497	6778	8924											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	300					0	0	1	0	0	A	2896327	G	A	2896327	3	1	22	1	0	0	0	0	1	0	0	0	14162	1203	42	2	884	2	SERPINB9	6	2896327	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111757	2896327	168218740	6779	8925											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380441.1_Missense_Mutation_p.D55Y|NQO2_ENST00000380430.1_Missense_Mutation_p.D55Y|NQO2_ENST00000606474.1_3'UTR|NQO2_ENST00000380454.4_Missense_Mutation_p.D55Y|NQO2_ENST00000380455.4_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													30	127					1.75199e-13	1.89187e-13	1	1	0	T	3010414	G	T	3010414	3	4	22	1	0	0	0	0	1	0	0	0	10660	942	33	2	169	2	NQO2	6	3010414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114087	3010414	168104653	6780	8926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380441.1_Missense_Mutation_p.L106F|NQO2_ENST00000380430.1_Missense_Mutation_p.L144F|NQO2_ENST00000380454.4_Missense_Mutation_p.L106F|NQO2_ENST00000380455.4_Missense_Mutation_p.L144F			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													24	158					0	0	1	0	0	T	3017130	C	T	3017130	3	4	22	1	0	0	0	0	1	0	0	0	10660	797	28	2	448	2	NQO2	6	3017130	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6716	3017130	168097937	6781	8927											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	198					0	0	1	0	0	T	3129401	C	T	3129401	2	4	22	1	0	0	0	0	0	0	0	1	1491	547	19	1		1	BPHL	6	3129401	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112271	3129401	167985666	6782	8928											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	216					0	0	1	0	0	A	3227752	G	A	3227752	3	1	22	1	0	0	0	0	1	0	0	0	16817	1087	38	1	1327	1	TUBB2B	6	3227752	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98351	3227752	167887315	6783	8929											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000490273.1_Missense_Mutation_p.L146M|SLC22A23_ENST00000380302.4_Missense_Mutation_p.L146M|SLC22A23_ENST00000406686.3_Missense_Mutation_p.L427M			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													37	178					3.09479e-21	3.48195e-21	1	1	0	T	3290032	G	T	3290032	3	4	22	1	0	0	0	0	1	0	0	0	14508	991	35	2	801	2	SLC22A23	6	3290032	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62280	3290032	167825035	6784	8930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	86					1.99824e-07	2.07512e-07	1	1	0	T	3850321	G	T	3850321	3	4	22	1	0	0	0	0	1	0	0	0	5614	962	34	2	278	2	FAM50B	6	3850321	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	560289	3850321	167264746	6785	8931											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538861.1_Silent_p.L962L|PRPF4B_ENST00000494674.1_3'UTR	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													19	177					0	0	1	0	0	T	4060752	C	T	4060752	2	4	22	1	0	0	0	0	0	0	0	1	12625	796	28	2		2	PRPF4B	6	4060752	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	210431	4060752	167054315	6786	8932											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397588.3_Silent_p.L127L|CDYL_ENST00000472453.1_Intron|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													100	357					5.87852e-30	6.88333e-30	1	1	0	A	4892303	C	A	4892303	2	1	22	1	0	0	0	0	0	0	0	1	3207	900	32	2		2	CDYL	6	4892303	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	831551	4892303	166222764	6787	8933											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000464646.1_Silent_p.A34A|RPP40_ENST00000319533.5_Intron	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													67	263					0	0	1	0	0	C	5000852	T	C	5000852	2	2	22	1	0	0	0	0	0	0	0	1	13666	1683	59	3		3	RPP40	6	5000852	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	108549	5000852	166114215	6788	8934											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000464010.1_3'UTR|LYRM4_ENST00000330636.4_Missense_Mutation_p.I82V			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													95	532					0	0	1	0	0	C	5109689	T	C	5109689	4	2	22	1	0	0	0	0	0	0	0	0	9167	1435	50	3	35	3	LYRM4	6	5109689	Nonstop_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	108837	5109689	166005378	6789	8935											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_016588.2	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													107	454					0	0	1	0	0	C	6002641	T	C	6002641	3	2	22	1	0	0	0	0	1	0	0	0	10706	1464	51	3	291	3	NRN1	6	6002641	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	892952	6002641	165112426	6790	8936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_016588.2	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													11	585					2.27111e-07	2.35674e-07	1	1	0	A	6006979	C	A	6006979	4	1	22	1	0	0	0	0	0	1	0	0	10706	632	22	2	436	2	NRN1	6	6006979	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4338	6006979	165108088	6791	8937											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	231					0	0	1	0	0	G	6305593	A	G	6305593	3	3	22	1	0	0	0	0	1	0	0	0	5368	449	16	3	1940	3	F13A1	6	6305593	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	298614	6305593	164809474	6792	8938											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334984.6_Nonsense_Mutation_p.R167*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.R167*|RREB1_ENST00000349384.6_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													107	508					0	0	1	0	0	T	7211110	C	T	7211110	4	4	22	1	0	0	0	0	0	1	0	0	13731	760	27	1	513	1	RREB1	6	7211110	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	905517	7211110	163903957	6793	8939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334984.6_Silent_p.G421G|RREB1_ENST00000379933.3_Silent_p.G421G|RREB1_ENST00000349384.6_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													66	260					0	0	1	0	0	T	7229595	C	T	7229595	2	4	22	1	0	0	0	0	0	0	0	1	13731	755	27	1		1	RREB1	6	7229595	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18485	7229595	163885472	6794	8940											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334984.6_Missense_Mutation_p.R516L|RREB1_ENST00000379933.3_Missense_Mutation_p.R516L|RREB1_ENST00000349384.6_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													65	1287					3.39706e-21	3.82169e-21	1	1	0	T	7229879	G	T	7229879	3	4	22	1	0	0	0	0	1	0	0	0	13731	1116	39	4	1573	4	RREB1	6	7229879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	284	7229879	163885188	6795	8941											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334984.6_Missense_Mutation_p.T692M|RREB1_ENST00000379933.3_Missense_Mutation_p.T692M|RREB1_ENST00000349384.6_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													46	270					0	0	1	0	0	T	7230407	C	T	7230407	3	4	22	1	0	0	0	0	1	0	0	0	13731	536	19	1	2101	1	RREB1	6	7230407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	528	7230407	163884660	6796	8942											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334984.6_Silent_p.L1232L|RREB1_ENST00000379933.3_Silent_p.L1232L|RREB1_ENST00000349384.6_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													38	160					0	0	1	0	0	T	7232026	C	T	7232026	2	4	22	1	0	0	0	0	0	0	0	1	13731	796	28	2		2	RREB1	6	7232026	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1619	7232026	163883041	6797	8943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334984.6_Intron|RREB1_ENST00000379933.3_Silent_p.D1490D|RREB1_ENST00000349384.6_Silent_p.D1490D	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													50	185					0	0	1	0	0	T	7247318	C	T	7247318	2	4	22	1	0	0	0	0	0	0	0	1	13731	535	19	1		1	RREB1	6	7247318	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15292	7247318	163867749	6798	8944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	631					0	0	1	0	0	T	7404697	C	T	7404697	3	4	22	1	0	0	0	0	1	0	0	0	13429	875	31	1	939	1	RIOK1	6	7404697	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157379	7404697	163710370	6799	8945											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	312					0	0	1	0	0	A	7563014	G	A	7563014	5	1	22	1	0	0	0	0	0	0	1	0	4807	1275	44	2	745	2	DSP	6	7563014	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158317	7563014	163552053	6800	8946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	357					0	0	1	0	0	A	7565651	G	A	7565651	2	1	22	1	0	0	0	0	0	0	0	1	4807	1132	40	1		1	DSP	6	7565651	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2637	7565651	163549416	6801	8947											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	514					2.43139e-17	2.68212e-17	1	1	0	T	7578046	G	T	7578046	3	4	22	1	0	0	0	0	1	0	0	0	4807	1174	41	2	2994	2	DSP	6	7578046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12395	7578046	163537021	6802	8948											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	349					0	0	1	0	0	C	7579637	T	C	7579637	3	2	22	1	0	0	0	0	1	0	0	0	4807	1725	60	3	3304	3	DSP	6	7579637	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1591	7579637	163535430	6803	8949											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	290					0	0	1	0	0	A	7580632	G	A	7580632	2	1	22	1	0	0	0	0	0	0	0	1	4807	1165	41	2		2	DSP	6	7580632	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	995	7580632	163534435	6804	8950											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	520					0	0	1	0	0	T	7582959	C	T	7582959	2	4	22	1	0	0	0	0	0	0	0	1	4807	680	24	2		2	DSP	6	7582959	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2327	7582959	163532108	6805	8951											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	497					0	0	1	0	0	A	7583025	G	A	7583025	3	1	22	1	0	0	0	0	1	0	0	0	4807	943	33	2	5624	2	DSP	6	7583025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66	7583025	163532042	6806	8952											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	432					4.31088e-60	5.4178e-60	1	1	0	T	7584800	G	T	7584800	3	4	22	1	0	0	0	0	1	0	0	0	4807	991	35	2	7399	2	DSP	6	7584800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1775	7584800	163530267	6807	8953											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													141	753					0	0	1	0	0	T	7585624	C	T	7585624	3	4	22	1	0	0	0	0	1	0	0	0	4807	710	25	2	8223	2	DSP	6	7585624	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	824	7585624	163529443	6808	8954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	388					0	0	1	0	0	T	7606277	C	T	7606277	4	4	22	1	0	0	0	0	0	1	0	0	14911	760	27	1	850	1	SNRNP48	6	7606277	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20653	7606277	163508790	6809	8955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	428					6.2361e-21	7.00342e-21	1	1	0	A	10419699	C	A	10419699	1	1	22	1	0	0	0	0	0	0	0	0	15847	696	24	2		2	TFAP2A	6	10419699	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2813422	10419699	160695368	6810	8956											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000495262.1_Missense_Mutation_p.D194Y|GCNT2_ENST00000397423.2_Intron			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													26	259					5.61819e-17	6.18885e-17	1	1	0	T	10529724	G	T	10529724	3	4	22	1	0	0	0	0	1	0	0	0	6341	942	33	2	582	2	GCNT2	6	10529724	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110025	10529724	160585343	6811	8957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_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													88	356					0	0	1	0	0	T	10556976	C	T	10556976	3	4	22	1	0	0	0	0	1	0	0	0	6341	507	18	2	1251	2	GCNT2	6	10556976	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27252	10556976	160558091	6812	8958											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	835					0	0	1	0	0	C	10697608	T	C	10697608	3	2	22	1	0	0	0	0	1	0	0	0	11447	1667	58	3	142	3	PAK1IP1	6	10697608	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	140632	10697608	160417459	6813	8959											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379542.5_Missense_Mutation_p.G46S|TMEM14B_ENST00000473276.1_Intron|TMEM14B_ENST00000379530.3_Intron|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000481240.1_Intron|SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000461342.1_Intron|TMEM14B_ENST00000491103.1_3'UTR|TMEM14B_ENST00000475942.1_Missense_Mutation_p.G46S			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													10	450					0	0	1	0	0	A	10751401	G	A	10751401	3	1	22	1	0	0	0	0	1	0	0	0	16124	1116	39	1	146	1	TMEM14B	6	10751401	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53793	10751401	160363666	6814	8960											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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)	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													52	190					0	0	1	0	0	T	10874435	C	T	10874435	2	4	22	1	0	0	0	0	0	0	0	1	6338	622	22	2		2	GCM2	6	10874435	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123034	10874435	160240632	6815	8961											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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)	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													128	623					1.46217e-58	1.8345e-58	1	1	0	A	10874603	C	A	10874603	2	1	22	1	0	0	0	0	0	0	0	1	6338	813	29	2		2	GCM2	6	10874603	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168	10874603	160240464	6816	8962											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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)	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													82	344					0	0	1	0	0	A	10877453	G	A	10877453	3	1	22	1	0	0	0	0	1	0	0	0	6338	1377	48	2	1273	2	GCM2	6	10877453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2850	10877453	160237614	6817	8963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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)	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													52	305					0	0	1	0	0	T	10877516	C	T	10877516	3	4	22	1	0	0	0	0	1	0	0	0	6338	768	27	1	1336	1	GCM2	6	10877516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63	10877516	160237551	6818	8964											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_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													16	327					0	0	1	0	0	T	10927525	C	T	10927525	2	4	22	1	0	0	0	0	0	0	0	1	15490	506	18	2		2	SYCP2L	6	10927525	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50009	10927525	160187542	6819	8965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	485					0	0	1	0	0	T	12123223	C	T	12123223	2	4	22	1	0	0	0	0	0	0	0	1	7227	784	28	2		2	HIVEP1	6	12123223	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1195698	12123223	158991844	6820	8966											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	236					0	0	1	0	0	T	12123531	C	T	12123531	3	4	22	1	0	0	0	0	1	0	0	0	7227	536	19	1	3513	1	HIVEP1	6	12123531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	308	12123531	158991536	6821	8967											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	246					0	0	1	0	0	T	12124078	C	T	12124078	2	4	22	1	0	0	0	0	0	0	0	1	7227	784	28	2		2	HIVEP1	6	12124078	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	547	12124078	158990989	6822	8968											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	462					0	0	1	0	0	T	12125318	C	T	12125318	3	4	22	1	0	0	0	0	1	0	0	0	7227	759	27	1	5300	1	HIVEP1	6	12125318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1240	12125318	158989749	6823	8969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	432					0	0	1	0	0	T	12161698	C	T	12161698	4	4	22	1	0	0	0	0	0	1	0	0	7227	760	27	1	6540	1	HIVEP1	6	12161698	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36380	12161698	158953369	6824	8970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	356					0	0	1	0	0	A	12292728	G	A	12292728	4	1	22	1	0	0	0	0	0	1	0	0	4942	1241	43	2	225	2	EDN1	6	12292728	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131030	12292728	158822339	6825	8971											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332995.7_Missense_Mutation_p.P223S|PHACTR1_ENST00000379345.2_Intron|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													55	209					0	0	1	0	0	T	13206049	C	T	13206049	3	4	22	1	0	0	0	0	1	0	0	0	11857	855	30	2	689	2	PHACTR1	6	13206049	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	913321	13206049	157909018	6826	8972											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332995.7_Missense_Mutation_p.P242S|PHACTR1_ENST00000379345.2_Intron|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													44	327					0	0	1	0	0	T	13206106	C	T	13206106	3	4	22	1	0	0	0	0	1	0	0	0	11857	855	30	2	746	2	PHACTR1	6	13206106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57	13206106	157908961	6827	8973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343141.4_Intron|TBC1D7_ENST00000356436.4_Missense_Mutation_p.R156Q|TBC1D7_ENST00000379300.3_Missense_Mutation_p.R156Q|TBC1D7_ENST00000607532.1_5'UTR			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													47	899					0	0	1	0	0	T	13316855	C	T	13316855	3	4	22	1	0	0	0	0	1	0	0	0	15684	884	31	1	430	1	TBC1D7	6	13316855	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110749	13316855	157798212	6828	8974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	279					0	0	1	0	0	T	13365177	C	T	13365177	3	4	22	1	0	0	0	0	1	0	0	0	6385	768	27	1	205	1	GFOD1	6	13365177	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48322	13365177	157749890	6829	8975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	478					1.5842e-08	1.65642e-08	1	1	0	T	15410493	G	T	15410493	3	4	22	1	0	0	0	0	1	0	0	0	7989	971	34	2	230	2	JARID2	6	15410493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2045316	15410493	155704574	6830	8976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	256					1.32136e-16	1.45297e-16	1	1	0	T	15468794	G	T	15468794	3	4	22	1	0	0	0	0	1	0	0	0	7989	971	34	2	533	2	JARID2	6	15468794	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58301	15468794	155646273	6831	8977											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	143					0	0	1	0	0	T	15497082	C	T	15497082	2	4	22	1	0	0	0	0	0	0	0	1	7989	639	23	1		1	JARID2	6	15497082	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28288	15497082	155617985	6832	8978											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	408					0	0	1	0	0	T	15507618	C	T	15507618	3	4	22	1	0	0	0	0	1	0	0	0	7989	855	30	2	2744	2	JARID2	6	15507618	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10536	15507618	155607449	6833	8979											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	254					0	0	1	0	0	A	16141919	G	A	16141919	2	1	22	1	0	0	0	0	0	0	0	1	10103	962	34	2		2	MYLIP	6	16141919	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	634301	16141919	154973148	6834	8980											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	509					0	0	1	0	0	T	16254937	C	T	16254937	3	4	22	1	0	0	0	0	1	0	0	0	6538	652	23	1	450	1	GMPR	6	16254937	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113018	16254937	154860130	6835	8981											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	429					0	0	1	0	0	A	16326701	G	A	16326701	3	1	22	1	0	0	0	0	1	0	0	0	1207	1261	44	2	614	2	ATXN1	6	16326701	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71764	16326701	154788366	6836	8982											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000493172.1_Missense_Mutation_p.V46M|CAP2_ENST00000489374.1_Missense_Mutation_p.V46M|CAP2_ENST00000378990.2_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													70	335					0	0	1	0	0	A	17426835	G	A	17426835	3	1	22	1	0	0	0	0	1	0	0	0	2638	1145	40	1	142	1	CAP2	6	17426835	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1100134	17426835	153688232	6837	8983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	172					0	0	1	0	0	G	17626368	C	G	17626368	3	3	22	1	0	0	0	0	1	0	0	0	10803	565	20	5	871	5	NUP153	6	17626368	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199533	17626368	153488699	6838	8984											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	517					7.61515e-48	9.38505e-48	1	1	0	A	17661976	C	A	17661976	3	1	22	1	0	0	0	0	1	0	0	0	10803	797	28	2	3172	2	NUP153	6	17661976	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35608	17661976	153453091	6839	8985											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	400					6.53348e-20	7.30415e-20	1	1	0	A	17688685	C	A	17688685	3	1	22	1	0	0	0	0	1	0	0	0	10803	912	32	2	4235	2	NUP153	6	17688685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26709	17688685	153426382	6840	8986											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000259711.6_Missense_Mutation_p.N1387I|KIF13A_ENST00000378816.5_Missense_Mutation_p.N1387I|KIF13A_ENST00000378843.2_Missense_Mutation_p.N1374I|KIF13A_ENST00000378826.2_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													6	64					0	0	1	0	0	A	17777518	T	A	17777518	3	1	22	1	0	0	0	0	1	0	0	0	8316	1493	52	5	1306	5	KIF13A	6	17777518	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88833	17777518	153337549	6841	8987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000259711.6_Missense_Mutation_p.R1105Q|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1105Q|KIF13A_ENST00000378843.2_Missense_Mutation_p.R1092Q|KIF13A_ENST00000378826.2_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													104	509					0	0	1	0	0	T	17788054	C	T	17788054	3	4	22	1	0	0	0	0	1	0	0	0	8316	884	31	1	2180	1	KIF13A	6	17788054	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10536	17788054	153327013	6842	8988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000259711.6_Missense_Mutation_p.A583T|KIF13A_ENST00000378816.5_Missense_Mutation_p.A583T|KIF13A_ENST00000378843.2_Missense_Mutation_p.A583T|KIF13A_ENST00000378826.2_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													88	385					0	0	1	0	0	T	17826038	C	T	17826038	3	4	22	1	0	0	0	0	1	0	0	0	8316	710	25	2	3791	2	KIF13A	6	17826038	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37984	17826038	153289029	6843	8989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000259711.6_Missense_Mutation_p.R220C|KIF13A_ENST00000378816.5_Missense_Mutation_p.R220C|KIF13A_ENST00000378843.2_Missense_Mutation_p.R220C|KIF13A_ENST00000378826.2_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													40	194					0	0	1	0	0	A	17850613	G	A	17850613	3	1	22	1	0	0	0	0	1	0	0	0	8316	1116	39	1	4912	1	KIF13A	6	17850613	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24575	17850613	153264454	6844	8990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	317					0	0	1	0	0	C	18122317	A	C	18122317	3	2	22	1	0	0	0	0	1	0	0	0	10452	101	4	3	670	3	NHLRC1	6	18122317	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	271704	18122317	152992750	6845	8991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Missense_Mutation_p.V237M|KDM1B_ENST00000297792.5_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													38	195					0	0	1	0	0	A	18197423	G	A	18197423	3	1	22	1	0	0	0	0	1	0	0	0	8167	1145	40	1	735	1	KDM1B	6	18197423	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75106	18197423	152917644	6846	8992											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Silent_p.G384G|KDM1B_ENST00000297792.5_Silent_p.G383G			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													68	343					0	0	1	0	0	T	18208416	C	T	18208416	2	4	22	1	0	0	0	0	0	0	0	1	8167	697	25	2		2	KDM1B	6	18208416	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10993	18208416	152906651	6847	8993											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000546309.2_5'UTR|KDM1B_ENST00000397244.1_Missense_Mutation_p.L478M|KDM1B_ENST00000297792.5_Missense_Mutation_p.L477M			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													53	255					6.3237e-29	7.37716e-29	1	1	0	A	18215253	C	A	18215253	3	1	22	1	0	0	0	0	1	0	0	0	8167	796	28	2	1483	2	KDM1B	6	18215253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6837	18215253	152899814	6848	8994											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000546309.2_Silent_p.R29R|KDM1B_ENST00000397244.1_Silent_p.R507R|KDM1B_ENST00000297792.5_Silent_p.R506R			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													29	169					2.61193e-14	2.83483e-14	1	1	0	T	18215342	G	T	18215342	2	4	22	1	0	0	0	0	0	0	0	1	8167	1219	43	2		2	KDM1B	6	18215342	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89	18215342	152899725	6849	8995											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	216					0	0	1	0	0	A	18439941	G	A	18439941	2	1	22	1	0	0	0	0	0	0	0	1	13498	1020	36	2		2	RNF144B	6	18439941	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	224599	18439941	152675126	6850	8996											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	346					0	0	1	0	0	T	20102597	A	T	20102597	3	4	22	1	0	0	0	0	1	0	0	0	9406	101	4	5	83	5	MBOAT1	6	20102597	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1662656	20102597	151012470	6851	8997											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	147					0	0	1	0	0	A	20402509	G	A	20402509	3	1	22	1	0	0	0	0	1	0	0	0	4894	1087	38	1	48	1	E2F3	6	20402509	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299912	20402509	150712558	6852	8998											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378610.1_Missense_Mutation_p.V17M|CDKAL1_ENST00000378624.4_5'UTR	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													82	321					0	0	1	0	0	A	20546630	G	A	20546630	3	1	22	1	0	0	0	0	1	0	0	0	3174	1145	40	1	51	1	CDKAL1	6	20546630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144121	20546630	150568437	6853	8999											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378610.1_Silent_p.L179L|RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000378624.4_Silent_p.L109L	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													82	390					0	0	1	0	0	T	20781393	C	T	20781393	2	4	22	1	0	0	0	0	0	0	0	1	3174	796	28	2		2	CDKAL1	6	20781393	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	234763	20781393	150333674	6854	9000											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	319					0	0	1	0	0	C	22290434	A	C	22290434	3	2	22	1	0	0	0	0	1	0	0	0	12580	72	3	3	230	3	PRL	6	22290434	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1509041	22290434	148824633	6855	9001											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	313					0	0	1	0	0	T	22290448	C	T	22290448	2	4	22	1	0	0	0	0	0	0	0	1	12580	796	28	2		2	PRL	6	22290448	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14	22290448	148824619	6856	9002											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	171					0	0	1	0	0	T	24291177	C	T	24291177	2	4	22	1	0	0	0	0	0	0	0	1	4308	871	31	1		1	DCDC2	6	24291177	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2000729	24291177	146823890	6857	9003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	149					0	0	1	0	0	T	24429337	C	T	24429337	3	4	22	1	0	0	0	0	1	0	0	0	6654	536	19	1	80	1	GPLD1	6	24429337	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138160	24429337	146685730	6858	9004											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348925.2_Missense_Mutation_p.P271S|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.P170S|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.P230S	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													87	470					0	0	1	0	0	T	24515440	C	T	24515440	3	4	22	1	0	0	0	0	1	0	0	0	499	855	30	2	833	2	ALDH5A1	6	24515440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86103	24515440	146599627	6859	9005											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537886.1_Missense_Mutation_p.D603Y|KIAA0319_ENST00000543707.1_Missense_Mutation_p.D603Y|KIAA0319_ENST00000430948.2_Missense_Mutation_p.D558Y|KIAA0319_ENST00000378214.3_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													54	205					2.14255e-21	2.4122e-21	1	1	0	A	24572854	C	A	24572854	3	1	22	1	0	0	0	0	1	0	0	0	8210	913	32	2	1455	2	KIAA0319	6	24572854	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57414	24572854	146542213	6860	9006											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545995.1_Missense_Mutation_p.A352T|TDP2_ENST00000378198.4_Missense_Mutation_p.A322T			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					55	211					0	0	1	0	0	T	24651141	C	T	24651141	3	4	22	1	0	0	0	0	1	0	0	0	15788	797	28	2	128	2	TDP2	6	24651141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78287	24651141	146463926	6861	9007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	595					7.21436e-19	8.02439e-19	1	1	0	A	24709066	C	A	24709066	3	1	22	1	0	0	0	0	1	0	0	0	2383	855	30	2	194	2	C6orf62	6	24709066	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57925	24709066	146406001	6862	9008											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	127					0	0	1	0	0	T	25450163	C	T	25450163	3	4	22	1	0	0	0	0	1	0	0	0	9016	768	27	1	431	1	LRRC16A	6	25450163	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	741097	25450163	145664904	6863	9009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	388					6.31949e-53	7.86834e-53	1	1	0	T	25466164	G	T	25466164	3	4	22	1	0	0	0	0	1	0	0	0	9016	991	35	2	712	2	LRRC16A	6	25466164	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16001	25466164	145648903	6864	9010											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	557					0	0	1	0	0	T	25488745	C	T	25488745	3	4	22	1	0	0	0	0	1	0	0	0	9016	855	30	2	1047	2	LRRC16A	6	25488745	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22581	25488745	145626322	6865	9011											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	238					0	0	1	0	0	T	25495362	C	T	25495362	3	4	22	1	0	0	0	0	1	0	0	0	9016	913	32	2	1306	2	LRRC16A	6	25495362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6617	25495362	145619705	6866	9012											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	55					1.3612e-06	1.40558e-06	1	1	0	A	25515950	C	A	25515950	2	1	22	1	0	0	0	0	0	0	0	1	9016	813	29	2		2	LRRC16A	6	25515950	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20588	25515950	145599117	6867	9013											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													145	706					0	0	1	0	0	T	25670258	A	T	25670258	3	4	22	1	0	0	0	0	1	0	0	0	13957	14	1	5	447	5	SCGN	6	25670258	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	154308	25670258	145444809	6868	9014											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													179	700					0	0	1	0	0	T	25726479	C	T	25726479	3	4	22	1	0	0	0	0	1	0	0	0	7169	864	30	2	122	2	HIST1H2AA	6	25726479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56221	25726479	145388588	6869	9015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000439485.2_Silent_p.Q86Q|SLC17A4_ENST00000397076.2_Silent_p.Q32Q	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													59	268					0	0	1	0	0	A	25769379	G	A	25769379	2	1	22	1	0	0	0	0	0	0	0	1	14474	991	35	2		2	SLC17A4	6	25769379	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42900	25769379	145345688	6870	9016											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_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													54	791					0	0	1	0	0	T	25771219	C	T	25771219	3	4	22	1	0	0	0	0	1	0	0	0	14474	739	26	2	703	2	SLC17A4	6	25771219	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1840	25771219	145343848	6871	9017											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25811866C>A	ENST00000244527.4	-	9	1145	c.1030_splice	c.e9+1	p.G344_splice	SLC17A1_ENST00000476801.1_Splice_Site_p.G344_splice|SLC17A1_ENST00000468082.1_Splice_Site_p.G290_splice|SLC17A1_ENST00000427328.1_Splice_Site_p.G290_splice	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													56	289					9.59835e-30	1.1228e-29	1	1	0	A	25811866	C	A	25811866	5	1	22	1	0	0	0	0	0	0	1	0	14471	695	24	2	389	2	SLC17A1	6	25811866	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40647	25811866	145303201	6872	9018											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	299					0	0	1	0	0	G	25851014	T	G	25851014	3	3	22	1	0	0	0	0	1	0	0	0	14473	1490	52	3	716	3	SLC17A3	6	25851014	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39148	25851014	145264053	6873	9019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	68					0	0	1	0	0	T	25862211	C	T	25862211	3	4	22	1	0	0	0	0	1	0	0	0	14473	507	18	2	1182	2	SLC17A3	6	25862211	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11197	25862211	145252856	6874	9020											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	401					1.85244e-09	1.95034e-09	1	1	0	A	25862558	C	A	25862558	3	1	22	1	0	0	0	0	1	0	0	0	14473	797	28	2	1330	2	SLC17A3	6	25862558	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	347	25862558	145252509	6875	9021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	483					0	0	1	0	0	A	25913550	G	A	25913550	3	1	22	1	0	0	0	0	1	0	0	0	14472	987	35	2	30	2	SLC17A2	6	25913550	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50992	25913550	145201517	6876	9022											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	296					0	0	1	0	0	A	25915985	G	A	25915985	4	1	22	1	0	0	0	0	0	1	0	0	14472	1095	38	1	280	1	SLC17A2	6	25915985	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2435	25915985	145199082	6877	9023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	206					0	0	1	0	0	C	25972122	A	C	25972122	3	2	22	1	0	0	0	0	1	0	0	0	16573	14	1	3	543	3	TRIM38	6	25972122	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56137	25972122	145142945	6878	9024											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													174	869					2.98797e-67	3.78391e-67	1	1	0	T	26017371	G	T	26017371	3	4	22	1	0	0	0	0	1	0	0	0	7163	971	34	2	61	2	HIST1H1A	6	26017371	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45249	26017371	145097696	6879	9025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	311					0	0	1	0	0	A	26031956	G	A	26031956	2	1	22	1	0	0	0	0	0	0	0	1	7197	1079	38	1		1	HIST1H3B	6	26031956	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14585	26031956	145083111	6880	9026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													172	710					0	0	1	0	0	G	26056411	A	G	26056411	2	3	22	1	0	0	0	0	0	0	0	1	7165	117	5	3		3	HIST1H1C	6	26056411	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24455	26056411	145058656	6881	9027											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	386					0	0	1	0	0	T	26108003	C	T	26108003	3	4	22	1	0	0	0	0	1	0	0	0	7168	652	23	1	308	1	HIST1H1T	6	26108003	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51592	26108003	145007064	6882	9028											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	376					0	0	1	0	0	A	26108109	G	A	26108109	2	1	22	1	0	0	0	0	0	0	0	1	7168	1103	39	1		1	HIST1H1T	6	26108109	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106	26108109	145006958	6883	9029											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	145					0	0	1	0	0	A	26157183	G	A	26157183	3	1	22	1	0	0	0	0	1	0	0	0	7167	971	34	2	567	2	HIST1H1E	6	26157183	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49074	26157183	144957884	6884	9030											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	438					1.26778e-28	1.47706e-28	1	1	0	A	26189278	C	A	26189278	3	1	22	1	0	0	0	0	1	0	0	0	7209	680	24	2	288	2	HIST1H4D	6	26189278	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32095	26189278	144925789	6885	9031											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	278					7.36392e-32	8.68075e-32	1	1	0	A	26200158	C	A	26200158	3	1	22	1	0	0	0	0	1	0	0	0	7186	796	28	2	374	2	HIST1H2BF	6	26200158	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10880	26200158	144914909	6886	9032											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													127	558					0	0	1	0	0	C	26216523	T	C	26216523	3	2	22	1	0	0	0	0	1	0	0	0	7187	1821	63	3	35	3	HIST1H2BG	6	26216523	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16365	26216523	144898544	6887	9033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	568					0	0	1	0	0	T	26216590	C	T	26216590	2	4	22	1	0	0	0	0	0	0	0	1	7187	912	32	2		2	HIST1H2BG	6	26216590	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67	26216590	144898477	6888	9034											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	348					0	0	1	0	0	G	26217493	T	G	26217493	2	3	22	1	0	0	0	0	0	0	0	1	7173	1770	62	3		3	HIST1H2AE	6	26217493	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	903	26217493	144897574	6889	9035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	493					0	0	1	0	0	A	26234584	G	A	26234584	3	1	22	1	0	0	0	0	1	0	0	0	7166	1203	42	2	91	2	HIST1H1D	6	26234584	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17091	26234584	144880483	6890	9036											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	542					0	0	1	0	0	C	26234693	T	C	26234693	3	2	22	1	0	0	0	0	1	0	0	0	7166	1763	61	3	200	3	HIST1H1D	6	26234693	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	109	26234693	144880374	6891	9037											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	203					0	0	1	0	0	T	26247128	A	T	26247128	3	4	22	1	0	0	0	0	1	0	0	0	7212	446	16	5	222	5	HIST1H4G	6	26247128	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12435	26247128	144867939	6892	9038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													153	704					0	0	1	0	0	G	26252006	A	G	26252006	3	3	22	1	0	0	0	0	1	0	0	0	7188	391	14	3	130	3	HIST1H2BH	6	26252006	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4878	26252006	144863061	6893	9039											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	486					0	0	1	0	0	T	26271485	C	T	26271485	3	4	22	1	0	0	0	0	1	0	0	0	7202	536	19	1	286	1	HIST1H3G	6	26271485	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19479	26271485	144843582	6894	9040											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													146	559					0	0	1	0	0	T	26273462	C	T	26273462	3	4	22	1	0	0	0	0	1	0	0	0	7189	768	27	1	261	1	HIST1H2BI	6	26273462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1977	26273462	144841605	6895	9041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396934.3_Missense_Mutation_p.K132N|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.K155N|BTN3A2_ENST00000508906.2_Missense_Mutation_p.K113N|BTN3A2_ENST00000527422.1_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													35	283					3.03874e-20	3.40186e-20	1	1	0	T	26370581	G	T	26370581	3	4	22	1	0	0	0	0	1	0	0	0	1566	991	35	2	475	2	BTN3A2	6	26370581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97119	26370581	144744486	6896	9042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396934.3_Missense_Mutation_p.A159D|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.A182D|BTN3A2_ENST00000508906.2_Missense_Mutation_p.A140D|BTN3A2_ENST00000527422.1_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													30	420					1.49552e-23	1.70131e-23	1	1	0	A	26370661	C	A	26370661	3	1	22	1	0	0	0	0	1	0	0	0	1566	739	26	2	555	2	BTN3A2	6	26370661	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	26370661	144744406	6897	9043											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396934.3_Silent_p.G189G|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Silent_p.G212G|BTN3A2_ENST00000508906.2_Silent_p.G170G|BTN3A2_ENST00000527422.1_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													116	610					0	0	1	0	0	T	26370752	C	T	26370752	2	4	22	1	0	0	0	0	0	0	0	1	1566	755	27	1		1	BTN3A2	6	26370752	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91	26370752	144744315	6898	9044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000425234.2_Missense_Mutation_p.Y268H|BTN3A1_ENST00000414912.2_Missense_Mutation_p.Y216H	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													99	478					0	0	1	0	0	C	26409847	T	C	26409847	3	2	22	1	0	0	0	0	1	0	0	0	1565	1754	61	3	816	3	BTN3A1	6	26409847	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39095	26409847	144705220	6899	9045											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	572					0	0	1	0	0	A	26413464	G	A	26413464	2	1	22	1	0	0	0	0	0	0	0	1	1565	1306	46	2		2	BTN3A1	6	26413464	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3617	26413464	144701603	6900	9046											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541522.1_Nonsense_Mutation_p.E58*|BTN2A1_ENST00000469185.1_Nonsense_Mutation_p.E119*|BTN2A1_ENST00000312541.5_Nonsense_Mutation_p.E119*			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													9	224					2.52707e-12	2.7121e-12	1	1	0	T	26459981	G	T	26459981	4	4	22	1	0	0	0	0	0	1	0	0	1563	1175	41	2	361	2	BTN2A1	6	26459981	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46517	26459981	144655086	6901	9047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	173					0	0	1	0	0	C	26505184	A	C	26505184	3	2	22	1	0	0	0	0	1	0	0	0	1562	69	3	3	469	3	BTN1A1	6	26505184	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45203	26505184	144609883	6902	9048											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													171	814					0	0	1	0	0	A	26507040	G	A	26507040	3	1	22	1	0	0	0	0	1	0	0	0	1562	1000	35	2	853	2	BTN1A1	6	26507040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1856	26507040	144608027	6903	9049											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													190	973					1.59857e-72	2.0336e-72	1	1	0	T	27100394	G	T	27100394	3	4	22	1	0	0	0	0	1	0	0	0	7190	933	33	2	248	2	HIST1H2BJ	6	27100394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	593354	27100394	144014673	6904	9050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	458					0	0	1	0	0	T	27115260	C	T	27115260	3	4	22	1	0	0	0	0	1	0	0	0	7175	681	24	2	355	2	HIST1H2AH	6	27115260	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14866	27115260	143999807	6905	9051											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27218821T>C	ENST00000230582.3	+	6	607	c.591_splice	c.e6-1	p.F198_splice	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													88	482					0	0	1	0	0	C	27218821	T	C	27218821	5	2	22	1	0	0	0	0	0	0	1	0	12666	1739	60	3	614	3	PRSS16	6	27218821	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	103561	27218821	143896246	6906	9052											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Intron	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													51	218					8.72198e-27	1.00714e-26	1	1	0	T	27219637	G	T	27219637	3	4	22	1	0	0	0	0	1	0	0	0	12666	1232	43	2	856	2	PRSS16	6	27219637	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	816	27219637	143895430	6907	9053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Intron	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													19	62					0	0	1	0	0	A	27219749	G	A	27219749	3	1	22	1	0	0	0	0	1	0	0	0	12666	1174	41	2	968	2	PRSS16	6	27219749	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112	27219749	143895318	6908	9054											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27222471G>T	ENST00000230582.3	+	10	1165		c.e10-1		PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Splice_Site	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													95	514					4.22592e-57	5.29123e-57	1	1	0	T	27222471	G	T	27222471	5	4	22	1	0	0	0	0	0	0	1	0	12666	956	33	2	1188	2	PRSS16	6	27222471	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2722	27222471	143892596	6909	9055	55	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27222472A>G	ENST00000230582.3	+	10	1166	c.1150_splice	c.e10-1	p.Y384_splice	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Splice_Site_p.Y127_splice	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													93	518					0	0	1	0	0	G	27222472	A	G	27222472	5	3	22	1	0	0	0	0	0	0	1	0	12666	347	12	3	1189	3	PRSS16	6	27222472	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1	27222472	143892595	6910	9056	55	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Missense_Mutation_p.P177L	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													113	517					0	0	1	0	0	T	27222622	C	T	27222622	3	4	22	1	0	0	0	0	1	0	0	0	12666	681	24	2	1339	2	PRSS16	6	27222622	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150	27222622	143892445	6911	9057											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													119	586					0	0	1	0	0	A	27419126	G	A	27419126	3	1	22	1	0	0	0	0	1	0	0	0	17809	1058	37	1	47	1	ZNF184	6	27419126	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	196504	27419126	143695941	6912	9058											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	274					0	0	1	0	0	C	27419782	T	C	27419782	3	2	22	1	0	0	0	0	1	0	0	0	17809	1580	55	3	703	3	ZNF184	6	27419782	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	656	27419782	143695285	6913	9059											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	224					0	0	1	0	0	G	27420156	T	G	27420156	3	3	22	1	0	0	0	0	1	0	0	0	17809	1490	52	3	1077	3	ZNF184	6	27420156	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	374	27420156	143694911	6914	9060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													170	718					0	0	1	0	0	T	27420622	C	T	27420622	3	4	22	1	0	0	0	0	1	0	0	0	17809	768	27	1	1543	1	ZNF184	6	27420622	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	466	27420622	143694445	6915	9061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	428					0	0	1	0	0	C	27425127	T	C	27425127	3	2	22	1	0	0	0	0	1	0	0	0	17809	1667	58	3	2130	3	ZNF184	6	27425127	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4505	27425127	143689940	6916	9062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													185	951					0	0	1	0	0	T	27835000	C	T	27835000	3	4	22	1	0	0	0	0	1	0	0	0	7164	507	18	2	376	2	HIST1H1B	6	27835000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	409873	27835000	143280067	6917	9063											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	347					0	0	1	0	0	T	27858327	C	T	27858327	3	4	22	1	0	0	0	0	1	0	0	0	7205	884	31	1	170	1	HIST1H3J	6	27858327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23327	27858327	143256740	6918	9064											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	303					0	0	1	0	0	T	27858533	C	T	27858533	3	4	22	1	0	0	0	0	1	0	0	0	7205	739	26	2	376	2	HIST1H3J	6	27858533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206	27858533	143256534	6919	9065											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	281					1.27862e-28	1.48942e-28	1	1	0	T	27879173	G	T	27879173	3	4	22	1	0	0	0	0	1	0	0	0	11037	942	33	2	152	2	OR2B2	6	27879173	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20640	27879173	143235894	6920	9066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	270					0	0	1	0	0	C	27879845	T	C	27879845	3	2	22	1	0	0	0	0	1	0	0	0	11037	1464	51	3	824	3	OR2B2	6	27879845	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	672	27879845	143235222	6921	9067											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	594					0	0	1	0	0	T	27925530	C	T	27925530	3	4	22	1	0	0	0	0	1	0	0	0	11039	623	22	2	514	2	OR2B6	6	27925530	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45685	27925530	143189537	6922	9068											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	223					1.51943e-15	1.66198e-15	1	1	0	A	28053579	C	A	28053579	2	1	22	1	0	0	0	0	0	0	0	1	17798	668	24	2		2	ZNF165	6	28053579	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128049	28053579	143061488	6923	9069											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	RP1-265C24.9_ENST00000602810.1_RNA|RP1-265C24.9_ENST00000600652.1_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													215	1165					0	0	1	0	0	T	28093345	C	T	28093345	4	4	22	1	0	0	0	0	0	1	0	0	18270	479	17	2	126	2	ZSCAN16	6	28093345	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39766	28093345	143021722	6924	9070											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	550					0	0	1	0	0	G	28213078	A	G	28213078	3	3	22	1	0	0	0	0	1	0	0	0	17747	159	6	3	187	3	ZKSCAN4	6	28213078	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	119733	28213078	142901989	6925	9071											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	342					0	0	1	0	0	C	28213259	T	C	28213259	3	2	22	1	0	0	0	0	1	0	0	0	17747	1493	52	3	368	3	ZKSCAN4	6	28213259	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	181	28213259	142901808	6926	9072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	317					0	0	1	0	0	T	28213501	C	T	28213501	3	4	22	1	0	0	0	0	1	0	0	0	17747	507	18	2	610	2	ZKSCAN4	6	28213501	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	242	28213501	142901566	6927	9073											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	205					2.94884e-30	3.45738e-30	1	1	0	A	28219397	C	A	28219397	3	1	22	1	0	0	0	0	1	0	0	0	17747	623	22	2	1295	2	ZKSCAN4	6	28219397	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5896	28219397	142895670	6928	9074											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	653					0	0	1	0	0	T	28227547	C	T	28227547	3	4	22	1	0	0	0	0	1	0	0	0	10487	768	27	1	400	1	NKAPL	6	28227547	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8150	28227547	142887520	6929	9075											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	673					0	0	1	0	0	T	28227565	C	T	28227565	3	4	22	1	0	0	0	0	1	0	0	0	10487	652	23	1	418	1	NKAPL	6	28227565	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18	28227565	142887502	6930	9076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	344					5.04879e-28	5.86081e-28	1	1	0	A	28228254	C	A	28228254	3	1	22	1	0	0	0	0	1	0	0	0	10487	913	32	2	1107	2	NKAPL	6	28228254	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	689	28228254	142886813	6931	9077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	645					0	0	1	0	0	A	28269043	G	A	28269043	3	1	22	1	0	0	0	0	1	0	0	0	11828	1000	35	2	1434	2	PGBD1	6	28269043	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40789	28269043	142846024	6932	9078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	404					0	0	1	0	0	A	28269797	G	A	28269797	2	1	22	1	0	0	0	0	0	0	0	1	11828	933	33	2		2	PGBD1	6	28269797	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	754	28269797	142845270	6933	9079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	268					0	0	1	0	0	A	28472207	G	A	28472207	3	1	22	1	0	0	0	0	1	0	0	0	6785	1161	41	2	141	2	GPX6	6	28472207	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	202410	28472207	142642860	6934	9080											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_Missense_Mutation_p.E44D	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													41	229					5.71845e-15	6.23116e-15	1	1	0	T	28497272	G	T	28497272	3	4	22	1	0	0	0	0	1	0	0	0	6784	991	35	2	138	2	GPX5	6	28497272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25065	28497272	142617795	6935	9081											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	422					0	0	1	0	0	A	28501868	G	A	28501868	3	1	22	1	0	0	0	0	1	0	0	0	6784	1087	38	1	608	1	GPX5	6	28501868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4596	28501868	142613199	6936	9082											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	449					3.62473e-10	3.83521e-10	1	1	0	T	28540422	G	T	28540422	3	4	22	1	0	0	0	0	1	0	0	0	13929	933	33	2	737	2	SCAND3	6	28540422	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38554	28540422	142574645	6937	9083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	474					0	0	1	0	0	T	28541211	C	T	28541211	3	4	22	1	0	0	0	0	1	0	0	0	13929	710	25	2	1526	2	SCAND3	6	28541211	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	789	28541211	142573856	6938	9084											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													157	800					0	0	1	0	0	T	28542469	C	T	28542469	3	4	22	1	0	0	0	0	1	0	0	0	13929	710	25	2	1972	2	SCAND3	6	28542469	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1258	28542469	142572598	6939	9085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	150					9.73076e-26	1.11809e-25	1	1	0	T	28542676	G	T	28542676	2	4	22	1	0	0	0	0	0	0	0	1	13929	987	35	2		2	SCAND3	6	28542676	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	207	28542676	142572391	6940	9086											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	210					0	0	1	0	0	A	28963774	G	A	28963774	2	1	22	1	0	0	0	0	0	0	0	1	17891	1020	36	2		2	ZNF311	6	28963774	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	421098	28963774	142151293	6941	9087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	168					0	0	1	0	0	A	28967386	G	A	28967386	3	1	22	1	0	0	0	0	1	0	0	0	17891	1294	45	2	1824	2	ZNF311	6	28967386	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3612	28967386	142147681	6942	9088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	965					2.39556e-15	2.61601e-15	1	1	0	T	29079703	G	T	29079703	3	4	22	1	0	0	0	0	1	0	0	0	11052	991	35	2	38	2	OR2J3	6	29079703	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112317	29079703	142035364	6943	9089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													261	976					1.14998e-99	1.47899e-99	1	1	0	A	29079778	C	A	29079778	3	1	22	1	0	0	0	0	1	0	0	0	11052	912	32	2	113	2	OR2J3	6	29079778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75	29079778	142035289	6944	9090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	674					0	0	1	0	0	A	29142140	G	A	29142140	3	1	22	1	0	0	0	0	1	0	0	0	11051	1174	41	2	730	2	OR2J2	6	29142140	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62362	29142140	141972927	6945	9091											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	572					0	0	1	0	0	A	29275057	G	A	29275057	2	1	22	1	0	0	0	0	0	0	0	1	10996	1335	47	2		2	OR14J1	6	29275057	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132917	29275057	141840010	6946	9092											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	512					0	0	1	0	0	T	29408013	C	T	29408013	3	4	22	1	0	0	0	0	1	0	0	0	10946	913	32	2	223	2	OR10C1	6	29408013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132956	29408013	141707054	6947	9093											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													131	448					0	0	1	0	0	T	29408232	C	T	29408232	3	4	22	1	0	0	0	0	1	0	0	0	10946	768	27	1	442	1	OR10C1	6	29408232	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219	29408232	141706835	6948	9094											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	1598					0	0	1	0	0	A	29408493	G	A	29408493	3	1	22	1	0	0	0	0	1	0	0	0	10946	1087	38	1	703	1	OR10C1	6	29408493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	261	29408493	141706574	6949	9095											
OR10C1	442194	broad.mit.edu	37	chr6	29408552	29408552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccctcttctatggcaccGcactctttatctatattcgc	4	15	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408552G>A	ENST00000444197.2	+	1	1470	c.760G>A	c.(760-762)Gca>Aca	p.A254T	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	254					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						CTATGGCACCGCACTCTTTAT	0.582													69	1638					0	0	1	0	0	A	29408552	G	A	29408552	3	1	22	1	0	0	0	0	1	0	0	0	10946	1087	38	1	762	1	OR10C1	6	29408552	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59	29408552	141706515	6950	9096											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	395					0	0	1	0	0	T	29408712	C	T	29408712	3	4	22	1	0	0	0	0	1	0	0	0	10946	536	19	1	922	1	OR10C1	6	29408712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160	29408712	141706355	6951	9097											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	192					1.63038e-21	1.83746e-21	1	1	0	A	29454915	C	A	29454915	3	1	22	1	0	0	0	0	1	0	0	0	9371	796	28	2	373	2	MAS1L	6	29454915	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46203	29454915	141660152	6952	9098											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	383					0	0	1	0	0	A	29556001	G	A	29556001	3	1	22	1	0	0	0	0	1	0	0	0	11050	1174	41	2	282	2	OR2H2	6	29556001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101086	29556001	141559066	6953	9099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	190					0	0	1	0	0	G	29556596	A	G	29556596	3	3	22	1	0	0	0	0	1	0	0	0	11050	43	2	3	877	3	OR2H2	6	29556596	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	595	29556596	141558471	6954	9100											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377016.4_Missense_Mutation_p.V366D|GABBR1_ENST00000355973.3_Missense_Mutation_p.V311D|GABBR1_ENST00000377012.4_Missense_Mutation_p.V311D|GABBR1_ENST00000376977.3_Missense_Mutation_p.V428D	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													13	297					0	0	1	0	0	T	29588918	A	T	29588918	3	4	22	1	0	0	0	0	1	0	0	0	6190	275	10	5	1654	5	GABBR1	6	29588918	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32322	29588918	141526149	6955	9101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431798.2_Missense_Mutation_p.A160V|MOG_ENST00000416766.2_Intron|MOG_ENST00000376891.4_Missense_Mutation_p.A160V|MOG_ENST00000376888.2_Missense_Mutation_p.A44V|MOG_ENST00000376917.3_Missense_Mutation_p.A160V|MOG_ENST00000376898.3_Missense_Mutation_p.A160V|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000483013.1_Missense_Mutation_p.A44V|MOG_ENST00000490427.1_Missense_Mutation_p.A44V|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000396704.3_Missense_Mutation_p.A160V|MOG_ENST00000494692.1_Missense_Mutation_p.A160V|MOG_ENST00000396701.2_Missense_Mutation_p.A160V			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													180	783					0	0	1	0	0	T	29633971	C	T	29633971	3	4	22	1	0	0	0	0	1	0	0	0	9742	768	27	1	573	1	MOG	6	29633971	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45053	29633971	141481096	6956	9102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431798.2_Nonsense_Mutation_p.R187*|MOG_ENST00000416766.2_Nonsense_Mutation_p.R149*|MOG_ENST00000376891.4_Nonsense_Mutation_p.R187*|MOG_ENST00000376888.2_Nonsense_Mutation_p.R71*|MOG_ENST00000376917.3_Nonsense_Mutation_p.R187*|MOG_ENST00000376898.3_Nonsense_Mutation_p.R187*|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000483013.1_Nonsense_Mutation_p.R71*|MOG_ENST00000490427.1_Nonsense_Mutation_p.R71*|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000396704.3_Nonsense_Mutation_p.R187*|MOG_ENST00000494692.1_Nonsense_Mutation_p.R187*|MOG_ENST00000396701.2_Nonsense_Mutation_p.R187*			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													35	376					0	0	1	0	0	T	29635428	C	T	29635428	4	4	22	1	0	0	0	0	0	1	0	0	9742	876	31	1	657	1	MOG	6	29635428	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1457	29635428	141479639	6957	9103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													151	608					0	0	1	0	0	T	29640963	C	T	29640963	3	4	22	1	0	0	0	0	1	0	0	0	17709	768	27	1	689	1	ZFP57	6	29640963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5535	29640963	141474104	6958	9104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	320					0	0	1	0	0	T	29641220	C	T	29641220	3	4	22	1	0	0	0	0	1	0	0	0	17709	768	27	1	946	1	ZFP57	6	29641220	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257	29641220	141473847	6959	9105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334668.4_Missense_Mutation_p.R42H|HLA-F_ENST00000434407.2_Missense_Mutation_p.R42H|HLA-F_ENST00000440587.2_5'UTR|HLA-F_ENST00000259951.7_Missense_Mutation_p.R42H			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													6	162					0	0	1	0	0	A	29691495	G	A	29691495	3	1	22	1	0	0	0	0	1	0	0	0	7252	1087	38	1	131	1	HLA-F	6	29691495	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50275	29691495	141423572	6960	9106											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376818.3_Intron|HLA-G_ENST00000376828.2_Missense_Mutation_p.L159M|HLA-G_ENST00000360323.6_Missense_Mutation_p.L154M|HLA-G_ENST00000376815.3_Intron	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													25	512					1.96895e-08	2.05624e-08	1	1	0	A	29796436	C	A	29796436	3	1	22	1	0	0	0	0	1	0	0	0	7253	680	24	2	470	2	HLA-G	6	29796436	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104941	29796436	141318631	6961	9107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376809.5_Missense_Mutation_p.Y137C|HLA-A_ENST00000376806.5_Missense_Mutation_p.Y137C|HLA-A_ENST00000376802.2_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)			26	229					0	0	1	0	0	G	29911111	A	G	29911111	3	3	22	1	0	0	0	0	1	0	0	0	7236	391	14	3	420	3	HLA-A	6	29911111	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	114675	29911111	141203956	6962	9108	56	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376809.5_Missense_Mutation_p.Q139K|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q139K|HLA-A_ENST00000376802.2_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)			45	218					2.24722e-20	2.51766e-20	1	1	0	A	29911116	C	A	29911116	3	1	22	1	0	0	0	0	1	0	0	0	7236	711	25	2	425	2	HLA-A	6	29911116	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	29911116	141203951	6963	9109	56	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376773.1_Missense_Mutation_p.G34D|PPP1R11_ENST00000376769.2_Missense_Mutation_p.G34D|PPP1R11_ENST00000376758.1_Missense_Mutation_p.G34D|PPP1R11_ENST00000376763.1_Missense_Mutation_p.G34D|PPP1R11_ENST00000376765.2_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													9	504					0	0	1	0	0	A	30036959	G	A	30036959	3	1	22	1	0	0	0	0	1	0	0	0	12402	1261	44	2	267	2	PPP1R11	6	30036959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125843	30036959	141078108	6964	9110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	66					0	0	1	0	0	T	30038975	C	T	30038975	2	4	22	1	0	0	0	0	0	0	0	1	13543	755	27	1		1	RNF39	6	30038975	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2016	30038975	141076092	6965	9111											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	95					0	0	1	0	0	A	30039014	G	A	30039014	2	1	22	1	0	0	0	0	0	0	0	1	13543	1140	40	1		1	RNF39	6	30039014	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	30039014	141076053	6966	9112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	379					1.61229e-46	1.9812e-46	1	1	0	A	30041026	C	A	30041026	5	1	22	1	0	0	0	0	0	0	1	0	13543	927	32	2	680	2	RNF39	6	30041026	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2012	30041026	141074041	6967	9113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000307859.4_Silent_p.A160A|TRIM40_ENST00000376724.2_Silent_p.A189A			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	189						intracellular	zinc ion binding			ovary(1)	1						CAGCAGAAGCGGCCAGAATCC	0.597													72	264					0	0	1	0	0	A	30114887	G	A	30114887	2	1	22	1	0	0	0	0	0	0	0	1	16576	1103	39	1		1	TRIM40	6	30114887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73861	30114887	141000180	6968	9114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000487829.1_5'UTR|TRIM26_ENST00000437089.1_Missense_Mutation_p.R44H	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													38	205					0	0	1	0	0	T	30166750	C	T	30166750	3	4	22	1	0	0	0	0	1	0	0	0	16561	768	27	1	1516	1	TRIM26	6	30166750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51863	30166750	140948317	6969	9115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376656.4_Missense_Mutation_p.R55H|TRIM39_ENST00000396547.1_Missense_Mutation_p.R55H|TRIM39_ENST00000396551.3_Missense_Mutation_p.R55H|TRIM39_ENST00000540416.1_Missense_Mutation_p.R55H|TRIM39_ENST00000396548.1_Missense_Mutation_p.R55H	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						TGCATCACCCGCTGGTGGGAG	0.547													131	558					0	0	1	0	0	A	30297258	G	A	30297258	3	1	22	1	0	0	0	0	1	0	0	0	16574	1087	38	1	166	1	TRIM39	6	30297258	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	130508	30297258	140817809	6970	9116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-RPP21_ENST00000513556.1_Silent_p.C263C|TRIM39_ENST00000376656.4_Silent_p.C381C|TRIM39_ENST00000396547.1_Silent_p.C381C|TRIM39_ENST00000396551.3_Silent_p.C351C|TRIM39_ENST00000540416.1_Silent_p.C351C|TRIM39_ENST00000396548.1_Silent_p.C351C	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						TCTACCCTTGCGTCCTGGCTA	0.577													8	276					0	0	1	0	0	T	30309622	C	T	30309622	2	4	22	1	0	0	0	0	0	0	0	1	16574	776	27	1		1	TRIM39	6	30309622	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12364	30309622	140805445	6971	9117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	520					9.4957e-49	1.17268e-48	1	1	0	T	30514929	G	T	30514929	2	4	22	1	0	0	0	0	0	0	0	1	6577	987	35	2		2	GNL1	6	30514929	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205307	30514929	140600138	6972	9118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	647					0	0	1	0	0	A	30520942	G	A	30520942	3	1	22	1	0	0	0	0	1	0	0	0	6577	1057	37	1	1024	1	GNL1	6	30520942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6013	30520942	140594125	6973	9119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376557.3_Silent_p.G161G|PRR3_ENST00000498336.1_3'UTR	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													152	631					0	0	1	0	0	T	30530251	C	T	30530251	2	4	22	1	0	0	0	0	0	0	0	1	12648	755	27	1		1	PRR3	6	30530251	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9309	30530251	140584816	6974	9120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.N130Y	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													42	155					0	0	1	0	0	T	30546253	A	T	30546253	3	4	22	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	6975	9121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Silent_p.N447N	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													77	303					0	0	1	0	0	T	30553100	C	T	30553100	2	4	22	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	6976	9122											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30628018C>T	ENST00000376442.3	-	10	1741	c.1544_splice	c.e10-1	p.V516_splice	DHX16_ENST00000480966.1_5'UTR|DHX16_ENST00000376437.5_Splice_Site_p.V35_splice	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													41	209					0	0	1	0	0	T	30628018	C	T	30628018	5	4	22	1	0	0	0	0	0	0	1	0	4530	550	19	1	1623	1	DHX16	6	30628018	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74918	30628018	140487049	6977	9123											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	203					0	0	1	0	0	T	30630467	C	T	30630467	3	4	22	1	0	0	0	0	1	0	0	0	4530	768	27	1	1692	1	DHX16	6	30630467	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2449	30630467	140484600	6978	9124											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	243					0	0	1	0	0	C	30632720	A	C	30632720	3	2	22	1	0	0	0	0	1	0	0	0	4530	333	12	3	2006	3	DHX16	6	30632720	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2253	30632720	140482347	6979	9125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	463					7.8952e-62	9.94632e-62	1	1	0	A	30638717	C	A	30638717	3	1	22	1	0	0	0	0	1	0	0	0	4530	796	28	2	2738	2	DHX16	6	30638717	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5997	30638717	140476350	6980	9126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					11	555					0	0	1	0	0	A	30680738	G	A	30680738	2	1	22	1	0	0	0	0	0	0	0	1	9453	1048	37	1		1	MDC1	6	30680738	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42021	30680738	140434329	6981	9127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	516					0	0	1	0	0	A	30708465	G	A	30708465	2	1	22	1	0	0	0	0	0	0	0	1	5969	1136	40	1		1	FLOT1	6	30708465	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27727	30708465	140406602	6982	9128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													134	608					0	0	1	0	0	A	30709395	G	A	30709395	3	1	22	1	0	0	0	0	1	0	0	0	5969	1203	42	2	1117	2	FLOT1	6	30709395	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	930	30709395	140405672	6983	9129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000454612.2_Silent_p.A312A|DDR1_ENST00000376570.4_Silent_p.A312A|DDR1_ENST00000376575.3_Silent_p.A312A|DDR1_ENST00000452441.1_Silent_p.A312A|DDR1_ENST00000376567.2_Silent_p.A312A|DDR1_ENST00000376569.3_Silent_p.A312A|DDR1_ENST00000513240.1_Silent_p.A312A|DDR1_ENST00000418800.2_Silent_p.A312A|DDR1_ENST00000508312.1_Silent_p.A330A|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000361741.4_Silent_p.A43A|DDR1_ENST00000376568.3_Silent_p.A312A			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													65	287					6.8682e-38	8.26113e-38	1	1	0	A	30860156	C	A	30860156	2	1	22	1	0	0	0	0	0	0	0	1	4359	668	24	2		2	DDR1	6	30860156	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150761	30860156	140254911	6984	9130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000454612.2_Missense_Mutation_p.R344H|DDR1_ENST00000376570.4_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_ENST00000376569.3_Missense_Mutation_p.R344H|DDR1_ENST00000513240.1_Missense_Mutation_p.R344H|DDR1_ENST00000418800.2_Missense_Mutation_p.R344H|DDR1_ENST00000508312.1_Missense_Mutation_p.R362H|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000361741.4_Missense_Mutation_p.R75H|DDR1_ENST00000376568.3_Missense_Mutation_p.R344H			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													82	372					0	0	1	0	0	A	30860251	G	A	30860251	3	1	22	1	0	0	0	0	1	0	0	0	4359	1087	38	1	1057	1	DDR1	6	30860251	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95	30860251	140254816	6985	9131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000454612.2_Missense_Mutation_p.L651M|DDR1_ENST00000376570.4_Missense_Mutation_p.L651M|DDR1_ENST00000376575.3_Missense_Mutation_p.L694M|DDR1_ENST00000452441.1_Missense_Mutation_p.L688M|DDR1_ENST00000376567.2_Missense_Mutation_p.L651M|DDR1_ENST00000376569.3_Missense_Mutation_p.L651M|DDR1_ENST00000513240.1_Missense_Mutation_p.L694M|DDR1_ENST00000418800.2_Missense_Mutation_p.L651M|DDR1_ENST00000508312.1_Missense_Mutation_p.L669M|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000361741.4_Missense_Mutation_p.L355M|DDR1_ENST00000376568.3_Missense_Mutation_p.L688M			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													86	331					9.61781e-28	1.11524e-27	1	1	0	A	30865220	C	A	30865220	3	1	22	1	0	0	0	0	1	0	0	0	4359	796	28	2	2134	2	DDR1	6	30865220	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4969	30865220	140249847	6986	9132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					29	132					0	0	1	0	0	A	30878524	G	A	30878524	3	1	22	1	0	0	0	0	1	0	0	0	6906	1059	37	1	471	1	GTF2H4	6	30878524	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13304	30878524	140236543	6987	9133											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	208					0	0	1	0	0	T	30888119	C	T	30888119	3	4	22	1	0	0	0	0	1	0	0	0	17184	643	23	1	1447	1	VARS2	6	30888119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9595	30888119	140226948	6988	9134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	443					8.98033e-41	1.08974e-40	1	1	0	T	30890674	G	T	30890674	5	4	22	1	0	0	0	0	0	0	1	0	17184	956	33	2	2286	2	VARS2	6	30890674	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2555	30890674	140224393	6989	9135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	269					0	0	1	0	0	C	30919785	A	C	30919785	2	2	22	1	0	0	0	0	0	0	0	1	4739	64	3	3		3	DPCR1	6	30919785	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29111	30919785	140195282	6990	9136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													267	1275					0	0	1	0	0	T	30954944	C	T	30954944	3	4	22	1	0	0	0	0	1	0	0	0	10025	507	18	2	998	2	MUC21	6	30954944	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35159	30954944	140160123	6991	9137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	222					0	0	1	0	0	A	31079554	G	A	31079554	2	1	22	1	0	0	0	0	0	0	0	1	2350	1190	42	2		2	C6orf15	6	31079554	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124610	31079554	140035513	6992	9138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	349					0	0	1	0	0	A	31079823	G	A	31079823	3	1	22	1	0	0	0	0	1	0	0	0	2350	1203	42	2	668	2	C6orf15	6	31079823	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	269	31079823	140035244	6993	9139											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	354					0	0	1	0	0	A	31080049	G	A	31080049	2	1	22	1	0	0	0	0	0	0	0	1	2350	1048	37	1		1	C6orf15	6	31080049	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	226	31080049	140035018	6994	9140											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001255.3	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													69	279					0	0	1	0	0	A	31083901	G	A	31083901	2	1	22	1	0	0	0	0	0	0	0	1	3201	958	34	2		2	CDSN	6	31083901	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3852	31083901	140031166	6995	9141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001255.3	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													61	202					0	0	1	0	0	T	31084043	C	T	31084043	3	4	22	1	0	0	0	0	1	0	0	0	3201	797	28	2	244	2	CDSN	6	31084043	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142	31084043	140031024	6996	9142											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001255.3	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													27	109					0	0	1	0	0	A	31084129	G	A	31084129	2	1	22	1	0	0	0	0	0	0	0	1	3201	1194	42	2		2	CDSN	6	31084129	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86	31084129	140030938	6997	9143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001255.3	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													4	72					0	0	1	0	0	A	31084238	G	A	31084238	3	1	22	1	0	0	0	0	1	0	0	0	3201	1145	40	1	439	1	CDSN	6	31084238	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109	31084238	140030829	6998	9144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000480060.1_Intron|CCHCR1_ENST00000396263.2_Silent_p.R336R|CCHCR1_ENST00000376266.5_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													7	246					0	0	1	0	0	A	31117930	G	A	31117930	2	1	22	1	0	0	0	0	0	0	0	1	2897	958	34	2		2	CCHCR1	6	31117930	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33692	31117930	139997137	6999	9145											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000480060.1_Intron|CCHCR1_ENST00000396263.2_Missense_Mutation_p.T276N|CCHCR1_ENST00000376266.5_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													250	942					1.11229e-73	1.41635e-73	1	1	0	T	31118509	G	T	31118509	3	4	22	1	0	0	0	0	1	0	0	0	2897	1261	44	2	1573	2	CCHCR1	6	31118509	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	579	31118509	139996558	7000	9146											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000496421.1_3'UTR|TCF19_ENST00000376255.4_Missense_Mutation_p.S325I	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													64	263					6.2918e-36	7.52148e-36	1	1	0	T	31130430	G	T	31130430	3	4	22	1	0	0	0	0	1	0	0	0	15749	971	34	2	984	2	TCF19	6	31130430	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11921	31130430	139984637	7001	9147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000483972.1_5'UTR|LTB_ENST00000446745.2_3'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													39	124					0	0	1	0	0	A	31548600	G	A	31548600	2	1	22	1	0	0	0	0	0	0	0	1	9115	1049	37	1		1	LTB	6	31548600	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	418170	31548600	139566467	7002	9148											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000211921.7_Intron|LST1_ENST00000376110.3_Intron|LST1_ENST00000303757.8_Silent_p.G17G|LST1_ENST00000376089.2_Intron|LST1_ENST00000418507.2_Intron|LST1_ENST00000376096.1_Intron|LST1_ENST00000339530.4_Silent_p.G17G|LST1_ENST00000376086.3_Intron|LST1_ENST00000419073.1_3'UTR|LST1_ENST00000396101.3_Silent_p.G17G|LST1_ENST00000376100.3_Intron|LST1_ENST00000376099.1_Intron|LST1_ENST00000376093.2_Silent_p.G17G|LST1_ENST00000376111.4_5'UTR|LST1_ENST00000438075.2_Silent_p.G17G|LST1_ENST00000376092.3_Intron|LST1_ENST00000376090.2_Intron			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													9	35					0	0	1	0	0	T	31555449	C	T	31555449	3	4	22	1	0	0	0	0	1	0	0	0	9112	755	27	1	57	1	LST1	6	31555449	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6849	31555449	139559618	7003	9149											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	668					0	0	1	0	0	T	31626860	C	T	31626860	3	4	22	1	0	0	0	0	1	0	0	0	2378	913	32	2	23	2	C6orf47	6	31626860	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71411	31626860	139488207	7004	9150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	255					8.94452e-30	1.0468e-29	1	1	0	T	31749480	G	T	31749480	2	4	22	1	0	0	0	0	0	0	0	1	17183	958	34	2		2	VARS	6	31749480	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122620	31749480	139365587	7005	9151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000482996.1_5'UTR|VARS_ENST00000444930.2_3'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													185	871					0	0	1	0	0	A	31749699	G	A	31749699	3	1	22	1	0	0	0	0	1	0	0	0	17183	1145	40	1	1570	1	VARS	6	31749699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219	31749699	139365368	7006	9152											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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													98	436					0	0	1	0	0	T	31785396	C	T	31785396	2	4	22	1	0	0	0	0	0	0	0	1	7451	784	28	2		2	HSPA1A	6	31785396	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35697	31785396	139329671	7007	9153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000229729.6_Silent_p.S619S|SLC44A4_ENST00000375562.4_Silent_p.S577S	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													35	152					0	0	1	0	0	A	31832662	G	A	31832662	2	1	22	1	0	0	0	0	0	0	0	1	14693	1103	39	1		1	SLC44A4	6	31832662	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47266	31832662	139282405	7008	9154											
EHMT2	10919	broad.mit.edu	37	chr6	31851172	31851172	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccggatgctgagctggccGcacaggcagttggagctaga	15	11	0	2	rs148424397	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31851172G>A	ENST00000395728.3	-	22	3131	c.3132C>T	c.(3130-3132)tgC>tgT	p.C1044C	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Silent_p.C987C|EHMT2_ENST00000375530.4_Silent_p.C953C|EHMT2_ENST00000375528.4_Silent_p.C1010C			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	987	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						TGAGCTGGCCGCACAGGCAGT	0.632													11	121					0	0	1	0	0	A	31851172	G	A	31851172	2	1	22	1	0	0	0	0	0	0	0	1	5010	1079	38	1		1	EHMT2	6	31851172	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18510	31851172	139263895	7009	9155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Silent_p.P892P|EHMT2_ENST00000375530.4_Silent_p.P858P|EHMT2_ENST00000375528.4_Silent_p.P915P			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													18	836					0	0	1	0	0	A	31852264	G	A	31852264	2	1	22	1	0	0	0	0	0	0	0	1	5010	1103	39	1		1	EHMT2	6	31852264	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1092	31852264	139262803	7010	9156											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Missense_Mutation_p.R802H|EHMT2_ENST00000375530.4_Missense_Mutation_p.R768H|EHMT2_ENST00000375528.4_Missense_Mutation_p.R825H			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													32	263					0	0	1	0	0	T	31852732	C	T	31852732	3	4	22	1	0	0	0	0	1	0	0	0	5010	768	27	1	1267	1	EHMT2	6	31852732	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	468	31852732	139262335	7011	9157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Missense_Mutation_p.T250I|EHMT2_ENST00000375530.4_Missense_Mutation_p.T250I|EHMT2_ENST00000375528.4_Missense_Mutation_p.T307I			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													49	245					0	0	1	0	0	A	31860299	G	A	31860299	3	1	22	1	0	0	0	0	1	0	0	0	5010	1261	44	2	2971	2	EHMT2	6	31860299	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7567	31860299	139254768	7012	9158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31895572C>A	ENST00000556679.1	+	1	98	c.43C>A	c.(43-45)Cca>Aca	p.P15T	C2_ENST00000469372.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.P15T|C2_ENST00000452323.2_Intron|C2_ENST00000299367.5_Missense_Mutation_p.P15T|C2_ENST00000442278.2_Missense_Mutation_p.P15T|CFB_ENST00000477310.1_Missense_Mutation_p.P15T|CFB_ENST00000456570.1_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													203	1068					3.78394e-68	4.79673e-68	1	1	0	A	31895572	C	A	31895572	3	1	22	1	0	0	0	0	1	0	0	0	3300	623	22	2		2	CFB	6	31895572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35273	31895572	139219495	7013	9159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31905129C>T	ENST00000556679.1	+	5	618	c.563C>T	c.(562-564)gCg>gTg	p.A188V	C2_ENST00000469372.1_Missense_Mutation_p.A95V|C2_ENST00000452323.2_Missense_Mutation_p.A127V|C2_ENST00000299367.5_Missense_Mutation_p.A341V|C2_ENST00000442278.2_Missense_Mutation_p.A209V|CFB_ENST00000477310.1_Missense_Mutation_p.A159V|CFB_ENST00000456570.1_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													91	510					0	0	1	0	0	T	31905129	C	T	31905129	3	4	22	1	0	0	0	0	1	0	0	0	3300	768	27	1		1	CFB	6	31905129	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9557	31905129	139209938	7014	9160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31914967G>A	ENST00000556679.1	+	15	2043	c.1988G>A	c.(1987-1989)gGa>gAa	p.G663E	CFB_ENST00000425368.2_Missense_Mutation_p.G161E|CFB_ENST00000477310.1_Missense_Mutation_p.G512E|CFB_ENST00000456570.1_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													69	307					0	0	1	0	0	A	31914967	G	A	31914967	3	1	22	1	0	0	0	0	1	0	0	0	3300	1174	41	2	492	2	CFB	6	31914967	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9838	31914967	139200100	7015	9161											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	266					9.65139e-37	1.15646e-36	1	1	0	A	31930244	C	A	31930244	3	1	22	1	0	0	0	0	1	0	0	0	14414	680	24	2	1135	2	SKIV2L	6	31930244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15277	31930244	139184823	7016	9162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	206					6.31075e-24	7.19376e-24	1	1	0	T	31930327	G	T	31930327	3	4	22	1	0	0	0	0	1	0	0	0	14414	991	35	2	1218	2	SKIV2L	6	31930327	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83	31930327	139184740	7017	9163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	92					0	0	1	0	0	T	31933776	C	T	31933776	3	4	22	1	0	0	0	0	1	0	0	0	14414	710	25	2	2258	2	SKIV2L	6	31933776	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3449	31933776	139181291	7018	9164											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	452					0	0	1	0	0	G	31936211	C	G	31936211	3	3	22	1	0	0	0	0	1	0	0	0	14414	711	25	5	3059	5	SKIV2L	6	31936211	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2435	31936211	139178856	7019	9165											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	260					0	0	1	0	0	A	31963881	G	A	31963881	3	1	22	1	0	0	0	0	1	0	0	0	2262	971	34	2		2	C4A	6	31963881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27670	31963881	139151186	7020	9166											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	122					0	0	1	0	0	A	32016159	G	A	32016159	2	1	22	1	0	0	0	0	0	0	0	1	16406	1161	41	2		2	TNXB	6	32016159	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52278	32016159	139098908	7021	9167											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	143					0	0	1	0	0	G	32016203	A	G	32016203	3	3	22	1	0	0	0	0	1	0	0	0	16406	43	2	3	4801	3	TNXB	6	32016203	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44	32016203	139098864	7022	9168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	871					0	0	1	0	0	A	32029210	G	A	32029210	3	1	22	1	0	0	0	0	1	0	0	0	16406	1086	38	1	7353	1	TNXB	6	32029210	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13007	32029210	139085857	7023	9169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	183					0	0	1	0	0	A	32036330	G	A	32036330	2	1	22	1	0	0	0	0	0	0	0	1	16406	1161	41	2		2	TNXB	6	32036330	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7120	32036330	139078737	7024	9170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	144					0	0	1	0	0	A	32052335	G	A	32052335	2	1	22	1	0	0	0	0	0	0	0	1	16406	1136	40	1		1	TNXB	6	32052335	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16005	32052335	139062732	7025	9171											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479795.1_Missense_Mutation_p.L668P|TNXB_ENST00000375247.2_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													18	103					0	0	1	0	0	G	32063627	A	G	32063627	3	3	22	1	0	0	0	0	1	0	0	0	16406	188	7	3	12878	3	TNXB	6	32063627	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11292	32063627	139051440	7026	9172											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479795.1_Missense_Mutation_p.V265M|TNXB_ENST00000375247.2_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													32	151					0	0	1	0	0	T	32064837	C	T	32064837	3	4	22	1	0	0	0	0	1	0	0	0	16406	536	19	1	14088	1	TNXB	6	32064837	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1210	32064837	139050230	7027	9173											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	157					0	0	1	0	0	A	32095235	G	A	32095235	2	1	22	1	0	0	0	0	0	0	0	1	1084	1161	41	2		2	ATF6B	6	32095235	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30398	32095235	139019832	7028	9174											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	249					3.88204e-17	4.28066e-17	1	1	0	T	32095969	G	T	32095969	3	4	22	1	0	0	0	0	1	0	0	0	1084	962	34	2	2167	2	ATF6B	6	32095969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	734	32095969	139019098	7029	9175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375143.2_Missense_Mutation_p.L258P|PPT2_ENST00000445576.2_Intron|PPT2_ENST00000375137.2_Missense_Mutation_p.L258P|PPT2-EGFL8_ENST00000422437.1_Intron|PPT2_ENST00000395523.1_Missense_Mutation_p.L258P|PPT2_ENST00000361568.2_Missense_Mutation_p.L264P|PPT2_ENST00000437001.2_Intron|PPT2-EGFL8_ENST00000453656.2_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													113	885					0	0	1	0	0	C	32130591	T	C	32130591	3	2	22	1	0	0	0	0	1	0	0	0	12461	1580	55	3	825	3	PPT2	6	32130591	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34622	32130591	138984476	7030	9176											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000490711.1_5'UTR|AGPAT1_ENST00000412465.2_Missense_Mutation_p.R158W|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000395496.1_Missense_Mutation_p.R270W|AGPAT1_ENST00000336984.6_Missense_Mutation_p.R270W|AGPAT1_ENST00000395497.1_Missense_Mutation_p.R270W|AGPAT1_ENST00000375107.3_Missense_Mutation_p.R270W|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													8	473					0	0	1	0	0	A	32137097	G	A	32137097	3	1	22	1	0	0	0	0	1	0	0	0	383	1115	39	1	47	1	AGPAT1	6	32137097	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6506	32137097	138977970	7031	9177											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000490711.1_Intron|AGPAT1_ENST00000412465.2_Intron|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000395496.1_Silent_p.Y80Y|AGPAT1_ENST00000336984.6_Silent_p.Y80Y|AGPAT1_ENST00000395497.1_Silent_p.Y80Y|AGPAT1_ENST00000375107.3_Silent_p.Y80Y|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													12	449					0	0	1	0	0	A	32138808	G	A	32138808	2	1	22	1	0	0	0	0	0	0	0	1	383	1140	40	1		1	AGPAT1	6	32138808	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1711	32138808	138976259	7032	9178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438221.2_Missense_Mutation_p.S359N|AGER_ENST00000375065.5_Intron|AGER_ENST00000375070.3_Intron|AGER_ENST00000375069.3_Intron|AGER_ENST00000375076.4_Intron|AGER_ENST00000375067.3_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													29	362					0	0	1	0	0	T	32149346	C	T	32149346	3	4	22	1	0	0	0	0	1	0	0	0	376	812	28	2		2	AGER	6	32149346	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10538	32149346	138965721	7033	9179											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438221.2_Missense_Mutation_p.V11M|AGER_ENST00000375055.2_Missense_Mutation_p.V11M|AGER_ENST00000375065.5_Missense_Mutation_p.V11M|AGER_ENST00000375070.3_Missense_Mutation_p.V42M|AGER_ENST00000375069.3_De_novo_Start_InFrame|AGER_ENST00000538695.1_Missense_Mutation_p.V11M|AGER_ENST00000375067.3_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													20	131					0	0	1	0	0	T	32151969	C	T	32151969	3	4	22	1	0	0	0	0	1	0	0	0	376	507	18	2	1256	2	AGER	6	32151969	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2623	32151969	138963098	7034	9180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	100					0	0	1	0	0	T	32163591	C	T	32163591	3	4	22	1	0	0	0	0	1	0	0	0	10598	739	26	2	380	2	NOTCH4	6	32163591	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11622	32163591	138951476	7035	9181											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													164	794					0	0	1	0	0	A	32164146	G	A	32164146	2	1	22	1	0	0	0	0	0	0	0	1	10598	958	34	2		2	NOTCH4	6	32164146	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	555	32164146	138950921	7036	9182											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	345					1.52589e-26	1.75947e-26	1	1	0	T	32165082	G	T	32165082	2	4	22	1	0	0	0	0	0	0	0	1	10598	929	33	2		2	NOTCH4	6	32165082	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	936	32165082	138949985	7037	9183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	497					0	0	1	0	0	C	32166826	A	C	32166826	3	2	22	1	0	0	0	0	1	0	0	0	10598	333	12	3	1627	3	NOTCH4	6	32166826	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1744	32166826	138948241	7038	9184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	144					0	0	1	0	0	T	32171927	C	T	32171927	2	4	22	1	0	0	0	0	0	0	0	1	10598	697	25	2		2	NOTCH4	6	32171927	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5101	32171927	138943140	7039	9185											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	393					0	0	1	0	0	A	32190387	G	A	32190387	3	1	22	1	0	0	0	0	1	0	0	0	10598	971	34	2	5771	2	NOTCH4	6	32190387	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18460	32190387	138924680	7040	9186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	392					1.3466e-33	1.59697e-33	1	1	0	A	32190464	C	A	32190464	3	1	22	1	0	0	0	0	1	0	0	0	10598	797	28	2	5848	2	NOTCH4	6	32190464	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77	32190464	138924603	7041	9187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429232.2_Intron|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Silent_p.L33L|BTNL2_ENST00000374993.1_Silent_p.L243L			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													30	133					0	0	1	0	0	A	32369565	G	A	32369565	2	1	22	1	0	0	0	0	0	0	0	1	1568	962	34	2		2	BTNL2	6	32369565	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	179101	32369565	138745502	7042	9188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429232.2_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374993.1_Missense_Mutation_p.S231L			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													34	124					0	0	1	0	0	A	32370729	G	A	32370729	3	1	22	1	0	0	0	0	1	0	0	0	1568	1059	37	1	691	1	BTNL2	6	32370729	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1164	32370729	138744338	7043	9189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	398					2.38877e-28	2.77873e-28	1	1	0	A	32713601	C	A	32713601	3	1	22	1	0	0	0	0	1	0	0	0	7246	681	24	2	375	2	HLA-DQA2	6	32713601	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	342872	32713601	138401466	7044	9190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374899.4_Silent_p.E349E|TAP2_ENST00000452392.2_Silent_p.E349E|TAP2_ENST00000485701.1_5'UTR	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													112	424					0	0	1	0	0	T	32800500	C	T	32800500	2	4	22	1	0	0	0	0	0	0	0	1	15608	796	28	2		2	TAP2	6	32800500	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86899	32800500	138314567	7045	9191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	480					0	0	1	0	0	T	32800519	C	T	32800519	3	4	22	1	0	0	0	0	1	0	0	0	15608	768	27	1	1145	1	TAP2	6	32800519	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	32800519	138314548	7046	9192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TAP1_ENST00000425148.2_Missense_Mutation_p.I196R|PSMB9_ENST00000395330.1_Intron	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													77	321					0	0	1	0	0	C	32818155	A	C	32818155	3	2	22	1	0	0	0	0	1	0	0	0	15607	449	16	3	1084	3	TAP1	6	32818155	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17636	32818155	138296912	7047	9193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	296					1.12685e-05	1.15515e-05	1	1	0	T	32903416	G	T	32903416	2	4	22	1	0	0	0	0	0	0	0	1	7240	1219	43	2		2	HLA-DMB	6	32903416	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85261	32903416	138211651	7048	9194											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374825.4_Silent_p.Y644Y|BRD2_ENST00000395287.1_Silent_p.Y679Y|BRD2_ENST00000449085.2_Silent_p.Y597Y|BRD2_ENST00000443797.2_Silent_p.Y524Y|BRD2_ENST00000374831.4_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													38	171					0	0	1	0	0	T	32947695	C	T	32947695	2	4	22	1	0	0	0	0	0	0	0	1	1504	547	19	1		1	BRD2	6	32947695	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44279	32947695	138167372	7049	9195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428995.1_Missense_Mutation_p.W74C|HLA-DPA1_ENST00000463066.1_5'UTR	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													68	201					1.77791e-30	2.08608e-30	1	1	0	A	33037542	C	A	33037542	3	1	22	1	0	0	0	0	1	0	0	0	7243	740	26	2	572	2	HLA-DPA1	6	33037542	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89847	33037542	138077525	7050	9196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374712.1_Nonsense_Mutation_p.Y635*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.Y609*|COL11A2_ENST00000374713.1_Nonsense_Mutation_p.Y669*|COL11A2_ENST00000374708.4_Nonsense_Mutation_p.Y630*|COL11A2_ENST00000395197.1_Nonsense_Mutation_p.Y656*|COL11A2_ENST00000374714.1_Nonsense_Mutation_p.Y690*|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.Y695*	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													32	125					4.3181e-19	4.80867e-19	1	1	0	T	33144231	G	T	33144231	4	4	22	1	0	0	0	0	0	1	0	0	3691	1256	44	2	3222	2	COL11A2	6	33144231	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106689	33144231	137970836	7051	9197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374712.1_Missense_Mutation_p.Q570H|COL11A2_ENST00000361917.1_Missense_Mutation_p.Q544H|COL11A2_ENST00000374713.1_Missense_Mutation_p.Q604H|COL11A2_ENST00000374708.4_Missense_Mutation_p.Q565H|COL11A2_ENST00000395197.1_Missense_Mutation_p.Q591H|COL11A2_ENST00000374714.1_Missense_Mutation_p.Q625H|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000357486.1_Missense_Mutation_p.Q630H	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													44	164					1.30916e-28	1.52443e-28	1	1	0	A	33145207	C	A	33145207	3	1	22	1	0	0	0	0	1	0	0	0	3691	680	24	2	3433	2	COL11A2	6	33145207	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	976	33145207	137969860	7052	9198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	340					0	0	1	0	0	T	33169572	C	T	33169572	2	4	22	1	0	0	0	0	0	0	0	1	14678	854	30	2		2	SLC39A7	6	33169572	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24365	33169572	137945495	7053	9199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	235					1.87469e-40	2.27324e-40	1	1	0	T	33170375	G	T	33170375	4	4	22	1	0	0	0	0	0	1	0	0	14678	943	33	2	856	2	SLC39A7	6	33170375	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	803	33170375	137944692	7054	9200											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	182					0	0	1	0	0	A	33179292	G	A	33179292	2	1	22	1	0	0	0	0	0	0	0	1	13426	1306	46	2		2	RING1	6	33179292	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8917	33179292	137935775	7055	9201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	281					0	0	1	0	0	T	33179615	C	T	33179615	3	4	22	1	0	0	0	0	1	0	0	0	13426	739	26	2	973	2	RING1	6	33179615	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	323	33179615	137935452	7056	9202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Silent_p.L559L|HCG25_ENST00000422366.1_RNA|HCG25_ENST00000450514.1_RNA|HCG25_ENST00000442228.1_RNA|HCG25_ENST00000427196.1_RNA|VPS52_ENST00000482399.1_3'UTR	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													18	382					1.33834e-09	1.40959e-09	1	1	0	T	33218738	G	T	33218738	2	4	22	1	0	0	0	0	0	0	0	1	17274	929	33	2		2	VPS52	6	33218738	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39123	33218738	137896329	7057	9203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	515					0	0	1	0	0	A	33245202	G	A	33245202	2	1	22	1	0	0	0	0	0	0	0	1	1247	962	34	2		2	B3GALT4	6	33245202	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26464	33245202	137869865	7058	9204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	345					0	0	1	0	0	T	33245950	C	T	33245950	3	4	22	1	0	0	0	0	1	0	0	0	1247	739	26	2	756	2	B3GALT4	6	33245950	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	748	33245950	137869117	7059	9205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	816					3.1745e-13	3.424e-13	1	1	0	A	33247071	C	A	33247071	2	1	22	1	0	0	0	0	0	0	0	1	17359	581	21	2		2	WDR46	6	33247071	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1121	33247071	137867996	7060	9206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	428					0	0	1	0	0	T	33256731	C	T	33256731	2	4	22	1	0	0	0	0	0	0	0	1	17359	726	26	2		2	WDR46	6	33256731	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9660	33256731	137858336	7061	9207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	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													13	349					7.03913e-09	7.37812e-09	1	1	0	A	33259941	C	A	33259941	4	1	22	1	0	0	0	0	0	1	0	0	13329	690	24	2	65	2	RGL2	6	33259941	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3210	33259941	137855126	7062	9208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000456592.2_Missense_Mutation_p.A299T|TAPBP_ENST00000475304.1_Missense_Mutation_p.A317T|TAPBP_ENST00000489157.1_Missense_Mutation_p.A212T|TAPBP_ENST00000426633.2_Missense_Mutation_p.A299T	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													11	278					0	0	1	0	0	T	33272389	C	T	33272389	3	4	22	1	0	0	0	0	1	0	0	0	15609	797	28	2	647	2	TAPBP	6	33272389	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12448	33272389	137842678	7063	9209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													155	671					0	0	1	0	0	C	33284326	T	C	33284326	3	2	22	1	0	0	0	0	1	0	0	0	17589	1667	58	3	1540	3	ZBTB22	6	33284326	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11937	33284326	137830741	7064	9210											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	165					5.50884e-06	5.65664e-06	1	1	0	A	33284660	C	A	33284660	3	1	22	1	0	0	0	0	1	0	0	0	17589	797	28	2	1874	2	ZBTB22	6	33284660	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	334	33284660	137830407	7065	9211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266000.6_Missense_Mutation_p.S542G|DAXX_ENST00000414083.2_Missense_Mutation_p.S467G	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								83	399					0	0	1	0	0	C	33287473	T	C	33287473	3	2	22	1	0	0	0	0	1	0	0	0	4267	1580	55	3	610	3	DAXX	6	33287473	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2813	33287473	137827594	7066	9212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266000.6_Missense_Mutation_p.A297S|DAXX_ENST00000414083.2_Missense_Mutation_p.A222S	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								103	394					3.19611e-63	4.03289e-63	1	1	0	A	33288663	C	A	33288663	3	1	22	1	0	0	0	0	1	0	0	0	4267	797	28	2	1357	2	DAXX	6	33288663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1190	33288663	137826404	7067	9213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266000.6_Silent_p.G250G|DAXX_ENST00000414083.2_Silent_p.G175G	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								71	341					0	0	1	0	0	A	33288802	G	A	33288802	2	1	22	1	0	0	0	0	0	0	0	1	4267	1190	42	2		2	DAXX	6	33288802	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139	33288802	137826265	7068	9214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	82	387					0	0	1	0	0	T	33382062	C	T	33382062	2	4	22	1	0	0	0	0	0	0	0	1	11868	805	28	2		2	PHF1	6	33382062	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93260	33382062	137733005	7069	9215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	64	343					0	0	1	0	0	T	33382914	C	T	33382914	3	4	22	1	0	0	0	0	1	0	0	0	11868	710	25	2	1274	2	PHF1	6	33382914	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	852	33382914	137732153	7070	9216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P38S	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													125	595					0	0	1	0	0	T	33391298	C	T	33391298	3	4	22	1	0	0	0	0	1	0	0	0	15504	623	22	2	118	2	SYNGAP1	6	33391298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8384	33391298	137723769	7071	9217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P111T	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													30	201					6.05902e-23	6.8732e-23	1	1	0	A	33399973	C	A	33399973	3	1	22	1	0	0	0	0	1	0	0	0	15504	623	22	2	345	2	SYNGAP1	6	33399973	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8675	33399973	137715094	7072	9218											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	657					0	0	1	0	0	G	33423403	T	G	33423403	3	3	22	1	0	0	0	0	1	0	0	0	17617	1841	64	3	528	3	ZBTB9	6	33423403	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	23430	33423403	137691664	7073	9219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	257					0	0	1	0	0	T	33541918	C	T	33541918	3	4	22	1	0	0	0	0	1	0	0	0	1303	536	19	1	219	1	BAK1	6	33541918	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118515	33541918	137573149	7074	9220											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	303					0	0	1	0	0	A	33543127	G	A	33543127	2	1	22	1	0	0	0	0	0	0	0	1	1303	991	35	2		2	BAK1	6	33543127	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1209	33543127	137571940	7075	9221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	366					4.7546e-09	4.99022e-09	1	1	0	T	33626894	G	T	33626894	4	4	22	1	0	0	0	0	0	1	0	0	7966	1175	41	2	647	2	ITPR3	6	33626894	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83767	33626894	137488173	7076	9222											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	164					0	0	1	0	0	A	33630418	G	A	33630418	2	1	22	1	0	0	0	0	0	0	0	1	7966	1103	39	1		1	ITPR3	6	33630418	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3524	33630418	137484649	7077	9223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	139					5.45727e-16	5.98072e-16	1	1	0	T	33633694	G	T	33633694	3	4	22	1	0	0	0	0	1	0	0	0	7966	1261	44	2	1546	2	ITPR3	6	33633694	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3276	33633694	137481373	7078	9224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	373					0	0	1	0	0	T	33634963	C	T	33634963	3	4	22	1	0	0	0	0	1	0	0	0	7966	759	27	1	1667	1	ITPR3	6	33634963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1269	33634963	137480104	7079	9225											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	242					1.12685e-05	1.15515e-05	1	1	0	T	33647765	G	T	33647765	3	4	22	1	0	0	0	0	1	0	0	0	7966	971	34	2	4201	2	ITPR3	6	33647765	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12802	33647765	137467302	7080	9226											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	165					0	0	1	0	0	T	33652166	C	T	33652166	3	4	22	1	0	0	0	0	1	0	0	0	7966	893	31	1	5116	1	ITPR3	6	33652166	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4401	33652166	137462901	7081	9227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	453					0	0	1	0	0	A	33656032	G	A	33656032	3	1	22	1	0	0	0	0	1	0	0	0	7966	1087	38	1	6582	1	ITPR3	6	33656032	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3866	33656032	137459035	7082	9228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	491					0	0	1	0	0	T	33663516	C	T	33663516	3	4	22	1	0	0	0	0	1	0	0	0	7966	536	19	1	8205	1	ITPR3	6	33663516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7484	33663516	137451551	7083	9229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	279					0	0	1	0	0	A	33744789	G	A	33744789	3	1	22	1	0	0	0	0	1	0	0	0	8759	1087	38	1	216	1	LEMD2	6	33744789	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81273	33744789	137370278	7084	9230											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	446					6.29468e-14	6.81746e-14	1	1	0	T	33744826	G	T	33744826	2	4	22	1	0	0	0	0	0	0	0	1	8759	1161	41	2		2	LEMD2	6	33744826	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	33744826	137370241	7085	9231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	405					0	0	1	0	0	A	33746091	G	A	33746091	3	1	22	1	0	0	0	0	1	0	0	0	8759	1116	39	1	443	1	LEMD2	6	33746091	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1265	33746091	137368976	7086	9232											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	352					0	0	1	0	0	A	33752178	G	A	33752178	2	1	22	1	0	0	0	0	0	0	0	1	8759	987	35	2		2	LEMD2	6	33752178	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6087	33752178	137362889	7087	9233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	356					0	0	1	0	0	A	33768931	G	A	33768931	3	1	22	1	0	0	0	0	1	0	0	0	9679	1116	39	1	353	1	MLN	6	33768931	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16753	33768931	137346136	7088	9234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33996020G>A	ENST00000374181.3	-	9	2735	c.2566C>T	c.(2566-2568)Cgc>Tgc	p.R856C	GRM4_ENST00000455714.2_Missense_Mutation_p.R716C|GRM4_ENST00000545715.1_Missense_Mutation_p.R548C|GRM4_ENST00000535756.1_Missense_Mutation_p.R723C|GRM4_ENST00000374177.3_Missense_Mutation_p.R740C|GRM4_ENST00000544773.1_Missense_Mutation_p.R687C|GRM4_ENST00000538487.1_Missense_Mutation_p.R856C	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	856					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													116	459					0	0	1	0	0	A	33996020	G	A	33996020	3	1	22	1	0	0	0	0	1	0	0	0	6840	1087	38	1	180	1	GRM4	6	33996020	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227089	33996020	137119047	7089	9235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34004315G>A	ENST00000374181.3	-	8	1741	c.1572C>T	c.(1570-1572)tgC>tgT	p.C524C	GRM4_ENST00000455714.2_Silent_p.C384C|GRM4_ENST00000545715.1_Silent_p.C216C|GRM4_ENST00000535756.1_Silent_p.C391C|GRM4_ENST00000374177.3_Silent_p.C408C|GRM4_ENST00000544773.1_Silent_p.C355C|GRM4_ENST00000538487.1_Silent_p.C524C	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	524					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													69	299					0	0	1	0	0	A	34004315	G	A	34004315	2	1	22	1	0	0	0	0	0	0	0	1	6840	1195	42	2		2	GRM4	6	34004315	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8295	34004315	137110752	7090	9236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001199583.1	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													24	285					1.64293e-13	1.77503e-13	1	1	0	T	34497247	G	T	34497247	3	4	22	1	0	0	0	0	1	0	0	0	11421	971	34	2	544	2	PACSIN1	6	34497247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	492932	34497247	136617820	7091	9237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001199583.1	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													206	897					0	0	1	0	0	T	34499506	C	T	34499506	2	4	22	1	0	0	0	0	0	0	0	1	11421	755	27	1		1	PACSIN1	6	34499506	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2259	34499506	136615561	7092	9238											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374021.1_Missense_Mutation_p.V107A|C6orf106_ENST00000374026.3_Missense_Mutation_p.V115A	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													55	331					0	0	1	0	0	G	34574651	A	G	34574651	3	3	22	1	0	0	0	0	1	0	0	0	2333	159	6	3	362	3	C6orf106	6	34574651	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75145	34574651	136540416	7093	9239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	298					7.38237e-10	7.79401e-10	1	1	0	T	34789517	G	T	34789517	3	4	22	1	0	0	0	0	1	0	0	0	17028	991	35	2	138	2	UHRF1BP1	6	34789517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214866	34789517	136325550	7094	9240											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	342					0	0	1	0	0	T	34803134	C	T	34803134	2	4	22	1	0	0	0	0	0	0	0	1	17028	796	28	2		2	UHRF1BP1	6	34803134	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13617	34803134	136311933	7095	9241											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	436					6.94344e-10	7.33246e-10	1	1	0	T	34824616	G	T	34824616	3	4	22	1	0	0	0	0	1	0	0	0	17028	991	35	2	1383	2	UHRF1BP1	6	34824616	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21482	34824616	136290451	7096	9242											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	356					0	0	1	0	0	A	34827139	G	A	34827139	2	1	22	1	0	0	0	0	0	0	0	1	17028	1277	45	2		2	UHRF1BP1	6	34827139	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2523	34827139	136287928	7097	9243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	321					0	0	1	0	0	T	34935091	C	T	34935091	2	4	22	1	0	0	0	0	0	0	0	1	682	726	26	2		2	ANKS1A	6	34935091	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107952	34935091	136179976	7098	9244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	169					0	0	1	0	0	C	34937945	T	C	34937945	5	2	22	1	0	0	0	0	0	0	1	0	682	1681	58	3	447	3	ANKS1A	6	34937945	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2854	34937945	136177122	7099	9245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	254					0	0	1	0	0	G	34953057	T	G	34953057	5	3	22	1	0	0	0	0	0	0	1	0	682	1652	57	3	1241	3	ANKS1A	6	34953057	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15112	34953057	136162010	7100	9246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													238	964					3.0435e-71	3.86941e-71	1	1	0	A	34985670	C	A	34985670	3	1	22	1	0	0	0	0	1	0	0	0	682	797	28	2	1886	2	ANKS1A	6	34985670	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32613	34985670	136129397	7101	9247											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	296					2.51111e-31	2.95558e-31	1	1	0	A	35210976	C	A	35210976	2	1	22	1	0	0	0	0	0	0	0	1	14000	668	24	2		2	SCUBE3	6	35210976	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	225306	35210976	135904091	7102	9248											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440666.2_Intron|ZNF76_ENST00000339411.5_Silent_p.F56F	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													33	205					0	0	1	0	0	C	35254112	T	C	35254112	2	2	22	1	0	0	0	0	0	0	0	1	18185	1809	63	3		3	ZNF76	6	35254112	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43136	35254112	135860955	7103	9249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440666.2_Missense_Mutation_p.V87A|ZNF76_ENST00000339411.5_Missense_Mutation_p.V113A	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													41	171					0	0	1	0	0	C	35255528	T	C	35255528	3	2	22	1	0	0	0	0	1	0	0	0	18185	1638	57	3	352	3	ZNF76	6	35255528	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1416	35255528	135859539	7104	9250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	110					0	0	1	0	0	T	35285747	A	T	35285747	3	4	22	1	0	0	0	0	1	0	0	0	4409	275	10	5	909	5	DEF6	6	35285747	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30219	35285747	135829320	7105	9251											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540939.1_Missense_Mutation_p.R276H|PPARD_ENST00000360694.3_Missense_Mutation_p.R379H|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													71	262					0	0	1	0	0	A	35393666	G	A	35393666	3	1	22	1	0	0	0	0	1	0	0	0	12343	1145	40	1	1183	1	PPARD	6	35393666	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107919	35393666	135721401	7106	9252											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	334					0	0	1	0	0	A	35438416	T	A	35438416	4	1	22	1	0	0	0	0	0	1	0	0	13607	1413	49	5	565	5	RPL10A	6	35438416	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44750	35438416	135676651	7107	9253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003205.2	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													30	312					0	0	1	0	0	G	35443205	A	G	35443205	3	3	22	1	0	0	0	0	1	0	0	0	15799	159	6	3	213	3	TEAD3	6	35443205	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4789	35443205	135671862	7108	9254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	141					0	0	1	0	0	T	35466170	C	T	35466170	2	4	22	1	0	0	0	0	0	0	0	1	16835	755	27	1		1	TULP1	6	35466170	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22965	35466170	135648897	7109	9255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357266.4_Silent_p.E101E|FKBP5_ENST00000539068.1_Silent_p.E101E|FKBP5_ENST00000536438.1_Silent_p.E101E|FKBP5_ENST00000540787.1_Intron	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													83	297					0	0	1	0	0	T	35587999	C	T	35587999	2	4	22	1	0	0	0	0	0	0	0	1	5944	912	32	2		2	FKBP5	6	35587999	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121829	35587999	135527068	7110	9256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													198	842					0	0	1	0	0	T	35773690	C	T	35773690	2	4	22	1	0	0	0	0	0	0	0	1	8808	755	27	1		1	LHFPL5	6	35773690	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	185691	35773690	135341377	7111	9257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	405					0	0	1	0	0	T	35782385	C	T	35782385	3	4	22	1	0	0	0	0	1	0	0	0	8808	768	27	1	481	1	LHFPL5	6	35782385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8695	35782385	135332682	7112	9258											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	303					0	0	1	0	0	T	35782423	C	T	35782423	2	4	22	1	0	0	0	0	0	0	0	1	8808	726	26	2		2	LHFPL5	6	35782423	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38	35782423	135332644	7113	9259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000423325.2_Missense_Mutation_p.K175N|SRPK1_ENST00000373821.2_5'UTR|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													17	65					0	0	1	0	0	G	35842022	T	G	35842022	3	3	22	1	0	0	0	0	1	0	0	0	15215	1838	64	3	1434	3	SRPK1	6	35842022	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	59599	35842022	135273045	7114	9260											
SLC26A8	116369	broad.mit.edu	37	chr6	35912064	35912065	+	Frame_Shift_Ins	INS	-	-	T													tgatgaagcctggacttacaINStttttttggcttcctagaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35912064_35912065insT	ENST00000490799.1	-	20	2878_2879	c.2525_2526insA	c.(2524-2526)agtfs	p.S842fs	SLC26A8_ENST00000355574.2_Frame_Shift_Ins_p.S842fs|SLC26A8_ENST00000394602.2_Frame_Shift_Ins_p.S737fs	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	842	Interaction with RACGAP1.				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						CTGGACTTACATTTTTTTGGCT	0.401													87	449	---	---	---	---						T	35912065	-	T	35912064	7	5	22	1	0	1	1	0	0	0	0	0	14578	214	8	0	390	0	SLC26A8	6	35912064	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	70042	35912064	135203003	7115	9261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355574.2_Missense_Mutation_p.D579G|SLC26A8_ENST00000394602.2_Missense_Mutation_p.D474G	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													17	541					0	0	1	0	0	C	35927364	T	C	35927364	3	2	22	1	0	0	0	0	1	0	0	0	14578	1435	50	3	1196	3	SLC26A8	6	35927364	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15300	35927364	135187703	7116	9262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355574.2_Nonsense_Mutation_p.Q145*|SLC26A8_ENST00000394602.2_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													86	808					0	0	1	0	0	A	35967781	G	A	35967781	4	1	22	1	0	0	0	0	0	1	0	0	14578	1299	45	2	2547	2	SLC26A8	6	35967781	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40417	35967781	135147286	7117	9263											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534694.1_Missense_Mutation_p.R514W|BRPF3_ENST00000534400.1_Missense_Mutation_p.R514W|BRPF3_ENST00000339717.7_Missense_Mutation_p.R514W|BRPF3_ENST00000543502.1_Missense_Mutation_p.R514W|BRPF3_ENST00000443324.2_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													104	570					0	0	1	0	0	T	36172526	C	T	36172526	3	4	22	1	0	0	0	0	1	0	0	0	1523	527	19	1	1546	1	BRPF3	6	36172526	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	204745	36172526	134942541	7118	9264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36185695C>T	ENST00000357641.6	+	9	3244	c.2989_splice	c.e9-1	p.G997_splice	BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Splice_Site_p.G997_splice|BRPF3_ENST00000339717.7_Splice_Site_p.G727_splice|BRPF3_ENST00000543502.1_Splice_Site_p.G727_splice|BRPF3_ENST00000443324.2_Intron	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													45	212					0	0	1	0	0	T	36185695	C	T	36185695	5	4	22	1	0	0	0	0	0	0	1	0	1523	724	25	2	3021	2	BRPF3	6	36185695	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13169	36185695	134929372	7119	9265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.G1009R|BRPF3_ENST00000339717.7_Missense_Mutation_p.G739R|BRPF3_ENST00000543502.1_Missense_Mutation_p.G739R|BRPF3_ENST00000443324.2_Intron	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													59	251					0	0	1	0	0	A	36185729	G	A	36185729	3	1	22	1	0	0	0	0	1	0	0	0	1523	1116	39	1	3055	1	BRPF3	6	36185729	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	36185729	134929338	7120	9266											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	348					0	0	1	0	0	T	36262089	C	T	36262089	2	4	22	1	0	0	0	0	0	0	0	1	12212	535	19	1		1	PNPLA1	6	36262089	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76360	36262089	134852978	7121	9267											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	488					0	0	1	0	0	A	36298366	G	A	36298366	2	1	22	1	0	0	0	0	0	0	0	1	2370	1195	42	2		2	C6orf222	6	36298366	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36277	36298366	134816701	7122	9268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000339796.5_Missense_Mutation_p.A262T|ETV7_ENST00000373737.4_Missense_Mutation_p.A185T|ETV7_ENST00000340181.4_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													133	644					0	0	1	0	0	T	36336729	C	T	36336729	3	4	22	1	0	0	0	0	1	0	0	0	5312	768	27	1	253	1	ETV7	6	36336729	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38363	36336729	134778338	7123	9269											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000339796.5_Silent_p.I40I|ETV7_ENST00000373737.4_Silent_p.I40I|ETV7_ENST00000340181.4_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													11	603					1.61879e-10	1.71755e-10	1	1	0	T	36353333	G	T	36353333	2	4	22	1	0	0	0	0	0	0	0	1	5312	932	33	2		2	ETV7	6	36353333	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16604	36353333	134761734	7124	9270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393189.2_Silent_p.V263V|CPNE5_ENST00000459703.1_5'UTR	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													23	633					0	0	1	0	0	T	36710162	C	T	36710162	2	4	22	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	7125	9271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393189.2_Missense_Mutation_p.A68V|CPNE5_ENST00000459703.1_5'UTR	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													53	298					0	0	1	0	0	A	36714294	G	A	36714294	3	1	22	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	7126	9272											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	140					8.69298e-16	9.51602e-16	1	1	0	T	36742762	G	T	36742762	3	4	22	1	0	0	0	0	1	0	0	0	3838	1203	42	2	1116	2	CPNE5	6	36742762	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28468	36742762	134372305	7127	9273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	191					0	0	1	0	0	A	36824411	G	A	36824411	2	1	22	1	0	0	0	0	0	0	0	1	12375	932	33	2		2	PPIL1	6	36824411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81649	36824411	134290656	7128	9274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	212					0	0	1	0	0	A	36982780	G	A	36982780	3	1	22	1	0	0	0	0	1	0	0	0	5866	1087	38	1	1025	1	FGD2	6	36982780	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158369	36982780	134132287	7129	9275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	263					0	0	1	0	0	T	37336474	C	T	37336474	3	4	22	1	0	0	0	0	1	0	0	0	13552	565	20	2	465	2	RNF8	6	37336474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	353694	37336474	133778593	7130	9276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	546					0	0	1	0	0	G	37348968	A	G	37348968	3	3	22	1	0	0	0	0	1	0	0	0	13552	449	16	3	1305	3	RNF8	6	37348968	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12494	37348968	133766099	7131	9277											
FTSJD2	0	broad.mit.edu	37	chr6	37441300	37441300	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactgctcacctctaaaaccCtggagaagatccgccctgtg	8	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37441300C>A	ENST00000373451.4	+	17	1908	c.1744C>A	c.(1744-1746)Ctg>Atg	p.L582M		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		582					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						CTCTAAAACCCTGGAGAAGAT	0.562													89	433					1.26005e-42	1.53511e-42	1	1	0	A	37441300	C	A	37441300	3	1	22	1	0	0	0	0	1	0	0	0	6126	680	24	2	1806	2	FTSJD2	6	37441300	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92332	37441300	133673767	7132	9278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37605152G>A	ENST00000434837.2	-	17	4038	c.2860C>T	c.(2860-2862)Cag>Tag	p.Q954*	MDGA1_ENST00000297153.7_Nonsense_Mutation_p.Q958*	NM_153487.3	NP_705691.1	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													15	326					0	0	1	0	0	A	37605152	G	A	37605152	4	1	22	1	0	0	0	0	0	1	0	0	9456	1328	46	2	11	2	MDGA1	6	37605152	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163852	37605152	133509915	7133	9279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37619936C>T	ENST00000434837.2	-	7	2341	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	MDGA1_ENST00000505425.1_Missense_Mutation_p.R388H|MDGA1_ENST00000297153.7_Missense_Mutation_p.R388H	NM_153487.3	NP_705691.1	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													59	323					0	0	1	0	0	T	37619936	C	T	37619936	3	4	22	1	0	0	0	0	1	0	0	0	9456	768	27	1	1748	1	MDGA1	6	37619936	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14784	37619936	133495131	7134	9280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000408958.1_Missense_Mutation_p.V322G|BTBD9_ENST00000403056.1_Missense_Mutation_p.V390G|BTBD9_ENST00000419706.2_Missense_Mutation_p.V360G|BTBD9_ENST00000314100.6_Missense_Mutation_p.V322G	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													53	248					0	0	1	0	0	C	38312855	A	C	38312855	3	2	22	1	0	0	0	0	1	0	0	0	1551	43	2	3	689	3	BTBD9	6	38312855	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	692919	38312855	132802212	7135	9281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	232					0	0	1	0	0	A	38645126	G	A	38645126	3	1	22	1	0	0	0	0	1	0	0	0	6491	1000	35	2	58	2	GLO1	6	38645126	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	332271	38645126	132469941	7136	9282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	349					0	0	1	0	0	G	38691111	A	G	38691111	5	3	22	1	0	0	0	0	0	0	1	0	4634	434	15	3		3	DNAH8	6	38691111	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45985	38691111	132423956	7137	9283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449981.2_Missense_Mutation_p.L632M|DNAH8_ENST00000441566.1_Missense_Mutation_p.L415M					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													73	438					5.72486e-32	6.75239e-32	1	1	0	A	38743659	C	A	38743659	3	1	22	1	0	0	0	0	1	0	0	0	4634	912	32	2	1277	2	DNAH8	6	38743659	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52548	38743659	132371408	7138	9284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449981.2_Missense_Mutation_p.V1161M|DNAH8_ENST00000441566.1_Missense_Mutation_p.V944M					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													46	159					0	0	1	0	0	A	38783391	G	A	38783391	3	1	22	1	0	0	0	0	1	0	0	0	4634	1145	40	1	2916	1	DNAH8	6	38783391	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39732	38783391	132331676	7139	9285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449981.2_Missense_Mutation_p.A1180T|DNAH8_ENST00000441566.1_Missense_Mutation_p.A963T					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													15	158					0	0	1	0	0	A	38790628	G	A	38790628	3	1	22	1	0	0	0	0	1	0	0	0	4634	971	34	2	2977	2	DNAH8	6	38790628	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7237	38790628	132324439	7140	9286											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449981.2_Missense_Mutation_p.A2171V|DNAH8_ENST00000441566.1_Missense_Mutation_p.A1954V					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													30	122					0	0	1	0	0	T	38834380	C	T	38834380	3	4	22	1	0	0	0	0	1	0	0	0	4634	797	28	2	6027	2	DNAH8	6	38834380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43752	38834380	132280687	7141	9287											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449981.2_Silent_p.D2389D|DNAH8_ENST00000441566.1_Silent_p.D2136D					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													57	289					0	0	1	0	0	T	38840488	C	T	38840488	2	4	22	1	0	0	0	0	0	0	0	1	4634	477	17	2		2	DNAH8	6	38840488	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6108	38840488	132274579	7142	9288											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38890961G>T	ENST00000359357.3	+	70	10393	c.10139_splice	c.e70+1	p.R3380_splice	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Splice_Site_p.R3597_splice|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000441566.1_Splice_Site_p.R3344_splice					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													42	209					2.6416e-12	2.83477e-12	1	1	0	T	38890961	G	T	38890961	5	4	22	1	0	0	0	0	0	0	1	0	4634	1014	35	2	10409	2	DNAH8	6	38890961	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50473	38890961	132224106	7143	9289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	141					0	0	1	0	0	A	39034062	G	A	39034062	2	1	22	1	0	0	0	0	0	0	0	1	6494	1045	37	1		1	GLP1R	6	39034062	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143101	39034062	132081005	7144	9290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	1039					6.31663e-08	6.57865e-08	1	1	0	T	39159266	G	T	39159266	2	4	22	1	0	0	0	0	0	0	0	1	8113	987	35	2		2	KCNK5	6	39159266	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125204	39159266	131955801	7145	9291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538893.1_Silent_p.I608I|KIF6_ENST00000394362.1_Silent_p.I115I|KIF6_ENST00000373215.3_Silent_p.I647I|KIF6_ENST00000229913.5_Silent_p.I115I|KIF6_ENST00000541946.1_Silent_p.I115I|KIF6_ENST00000373216.3_Silent_p.I664I|KIF6_ENST00000373213.4_Silent_p.I503I	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													95	304					0	0	1	0	0	A	39328261	G	A	39328261	2	1	22	1	0	0	0	0	0	0	0	1	8350	1048	37	1		1	KIF6	6	39328261	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168995	39328261	131786806	7146	9292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538893.1_Missense_Mutation_p.R557W|KIF6_ENST00000394362.1_Missense_Mutation_p.R64W|KIF6_ENST00000373215.3_Intron|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	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													50	257					0	0	1	0	0	A	39353422	G	A	39353422	3	1	22	1	0	0	0	0	1	0	0	0	8350	1086	38	1	639	1	KIF6	6	39353422	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25161	39353422	131761645	7147	9293											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	DAAM2_ENST00000398904.2_Missense_Mutation_p.R617C|RP11-61I13.3_ENST00000607215.1_RNA|RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.R617C	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													15	75					0	0	1	0	0	T	39851741	C	T	39851741	3	4	22	1	0	0	0	0	1	0	0	0	4240	768	27	1	1903	1	DAAM2	6	39851741	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	498319	39851741	131263326	7148	9294											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000274867.4_Silent_p.S671S	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													21	90					0	0	1	0	0	A	39855321	G	A	39855321	2	1	22	1	0	0	0	0	0	0	0	1	4240	1103	39	1		1	DAAM2	6	39855321	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3580	39855321	131259746	7149	9295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	DAAM2_ENST00000398904.2_Missense_Mutation_p.S833Y|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.S833Y	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													40	172					7.63091e-17	8.40161e-17	1	1	0	A	39864744	C	A	39864744	3	1	22	1	0	0	0	0	1	0	0	0	4240	855	30	2	2572	2	DAAM2	6	39864744	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9423	39864744	131250323	7150	9296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	792					0	0	1	0	0	T	39869088	C	T	39869088	3	4	22	1	0	0	0	0	1	0	0	0	4240	739	26	2	2909	2	DAAM2	6	39869088	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4344	39869088	131245979	7151	9297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000432280.2_Missense_Mutation_p.R324I|MOCS1_ENST00000373188.2_Missense_Mutation_p.R353I|MOCS1_ENST00000308559.7_Missense_Mutation_p.R353I|MOCS1_ENST00000373195.3_Missense_Mutation_p.R266I|MOCS1_ENST00000340692.5_Missense_Mutation_p.R353I|MOCS1_ENST00000373175.4_Missense_Mutation_p.R324I|MOCS1_ENST00000425303.2_Missense_Mutation_p.R353I	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													130	516					2.10578e-59	2.64425e-59	1	1	0	A	39877623	C	A	39877623	3	1	22	1	0	0	0	0	1	0	0	0	9739	913	32	2	107	2	MOCS1	6	39877623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8535	39877623	131237444	7152	9298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	234					0	0	1	0	0	T	40400136	A	T	40400136	3	4	22	1	0	0	0	0	1	0	0	0	8983	127	5	5	1660	5	LRFN2	6	40400136	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	522513	40400136	130714931	7153	9299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000470102.1_5'UTR|UNC5CL_ENST00000373164.1_Missense_Mutation_p.E502D	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)	29	104					1.17739e-12	1.26592e-12	1	1	0	A	40996163	C	A	40996163	3	1	22	1	0	0	0	0	1	0	0	0	17054	796	28	2	54	2	UNC5CL	6	40996163	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	596027	40996163	130118904	7154	9300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000470102.1_5'UTR|UNC5CL_ENST00000373164.1_Missense_Mutation_p.L375S	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													38	181					0	0	1	0	0	G	40998490	A	G	40998490	3	3	22	1	0	0	0	0	1	0	0	0	17054	131	5	3	444	3	UNC5CL	6	40998490	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2327	40998490	130116577	7155	9301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	435					0	0	1	0	0	T	41002657	C	T	41002657	3	4	22	1	0	0	0	0	1	0	0	0	17054	565	20	2	1431	2	UNC5CL	6	41002657	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4167	41002657	130112410	7156	9302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													190	832					1.05211e-58	1.32009e-58	1	1	0	T	41166116	G	T	41166116	3	4	22	1	0	0	0	0	1	0	0	0	16534	1029	36	2	874	2	TREML2	6	41166116	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163459	41166116	129948951	7157	9303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	388					0	0	1	0	0	T	41196470	C	T	41196470	3	4	22	1	0	0	0	0	1	0	0	0	16535	565	20	2	88	2	TREML4	6	41196470	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30354	41196470	129918597	7158	9304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	752					0	0	1	0	0	T	41621208	C	T	41621208	2	4	22	1	0	0	0	0	0	0	0	1	9454	776	27	1		1	MDFI	6	41621208	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	424738	41621208	129493859	7159	9305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	444					0	0	1	0	0	T	41712141	C	T	41712141	3	4	22	1	0	0	0	0	1	0	0	0	11833	739	26	2	1181	2	PGC	6	41712141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90933	41712141	129402926	7160	9306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	465					0	0	1	0	0	A	41738730	G	A	41738730	3	1	22	1	0	0	0	0	1	0	0	0	6097	1348	47	2	376	2	FRS3	6	41738730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26589	41738730	129376337	7161	9307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394259.1_Missense_Mutation_p.A189V|PRICKLE4_ENST00000394260.1_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													56	273					0	0	1	0	0	T	41753969	C	T	41753969	3	4	22	1	0	0	0	0	1	0	0	0	12541	739	26	2	704	2	PRICKLE4	6	41753969	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15239	41753969	129361098	7162	9308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373006.1_Missense_Mutation_p.R180C|USP49_ENST00000373009.3_Missense_Mutation_p.R180C|USP49_ENST00000297229.2_Missense_Mutation_p.R180C|USP49_ENST00000373010.1_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													24	107					0	0	1	0	0	A	41774184	G	A	41774184	3	1	22	1	0	0	0	0	1	0	0	0	17140	1087	38	1	1400	1	USP49	6	41774184	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20215	41774184	129340883	7163	9309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373006.1_Missense_Mutation_p.R149H|USP49_ENST00000373009.3_Missense_Mutation_p.R149H|USP49_ENST00000297229.2_Missense_Mutation_p.R149H|USP49_ENST00000373010.1_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													25	138					0	0	1	0	0	T	41774276	C	T	41774276	3	4	22	1	0	0	0	0	1	0	0	0	17140	768	27	1	1492	1	USP49	6	41774276	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92	41774276	129340791	7164	9310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409312.1_3'UTR|MED20_ENST00000467535.1_5'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													54	273					0	0	1	0	0	T	41874828	C	T	41874828	2	4	22	1	0	0	0	0	0	0	0	1	9488	639	23	1		1	MED20	6	41874828	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100552	41874828	129240239	7165	9311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	370					0	0	1	0	0	T	41895197	C	T	41895197	2	4	22	1	0	0	0	0	0	0	0	1	1579	726	26	2		2	BYSL	6	41895197	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20369	41895197	129219870	7166	9312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000414200.2_Intron|CCND3_ENST00000372988.4_Missense_Mutation_p.N2H|CCND3_ENST00000415497.2_Intron|CCND3_ENST00000372991.4_Missense_Mutation_p.N83H|CCND3_ENST00000372987.4_Missense_Mutation_p.N33H|CCND3_ENST00000510503.1_Missense_Mutation_p.N2H|CCND3_ENST00000511686.1_Intron			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								87	410					0	0	1	0	0	G	41908275	T	G	41908275	3	3	22	1	0	0	0	0	1	0	0	0	2940	1783	62	3	647	3	CCND3	6	41908275	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13078	41908275	129206792	7167	9313											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	574					0	0	1	0	0	A	42146144	G	A	42146144	3	1	22	1	0	0	0	0	1	0	0	0	6929	1058	37	1	334	1	GUCA1A	6	42146144	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237869	42146144	128968923	7168	9314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372917.4_Missense_Mutation_p.D1117E|TRERF1_ENST00000372922.4_Missense_Mutation_p.D1188E|TRERF1_ENST00000340840.2_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													83	376					0	0	1	0	0	C	42196122	A	C	42196122	3	2	22	1	0	0	0	0	1	0	0	0	16536	330	12	3	42	3	TRERF1	6	42196122	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49978	42196122	128918945	7169	9315											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372917.4_Silent_p.P1067P|TRERF1_ENST00000372922.4_Silent_p.P1138P|TRERF1_ENST00000340840.2_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													57	1884					0	0	1	0	0	A	42196272	G	A	42196272	2	1	22	1	0	0	0	0	0	0	0	1	16536	1103	39	1		1	TRERF1	6	42196272	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	150	42196272	128918795	7170	9316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372917.4_Intron|TRERF1_ENST00000372922.4_Missense_Mutation_p.A612V|TRERF1_ENST00000340840.2_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													97	461					0	0	1	0	0	A	42231107	G	A	42231107	3	1	22	1	0	0	0	0	1	0	0	0	16536	1203	42	2	1811	2	TRERF1	6	42231107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34835	42231107	128883960	7171	9317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	313					0	0	1	0	0	T	42613320	C	T	42613320	3	4	22	1	0	0	0	0	1	0	0	0	16963	507	18	2	2629	2	UBR2	6	42613320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	382213	42613320	128501747	7172	9318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	176					0	0	1	0	0	A	42652582	G	A	42652582	3	1	22	1	0	0	0	0	1	0	0	0	16963	971	34	2	5146	2	UBR2	6	42652582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39262	42652582	128462485	7173	9319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	897					5.20006e-24	5.93142e-24	1	1	0	A	42656018	C	A	42656018	3	1	22	1	0	0	0	0	1	0	0	0	16963	796	28	2	5242	2	UBR2	6	42656018	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3436	42656018	128459049	7174	9320											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	391					0	0	1	0	0	T	42658801	C	T	42658801	4	4	22	1	0	0	0	0	0	1	0	0	16963	760	27	1	5490	1	UBR2	6	42658801	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2783	42658801	128456266	7175	9321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	278					0	0	1	0	0	T	42666183	C	T	42666183	2	4	22	1	0	0	0	0	0	0	0	1	12629	680	24	2		2	PRPH2	6	42666183	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7382	42666183	128448884	7176	9322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	317					0	0	1	0	0	A	42713042	G	A	42713042	3	1	22	1	0	0	0	0	1	0	0	0	15691	1203	42	2	274	2	TBCC	6	42713042	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46859	42713042	128402025	7177	9323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	419					0	0	1	0	0	T	42890844	C	T	42890844	2	4	22	1	0	0	0	0	0	0	0	1	12784	900	32	2		2	PTCRA	6	42890844	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177802	42890844	128224223	7178	9324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													271	1359					3.06621e-78	3.91588e-78	1	1	0	T	42933437	G	T	42933437	3	4	22	1	0	0	0	0	1	0	0	0	11798	942	33	2	509	2	PEX6	6	42933437	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42593	42933437	128181630	7179	9325											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461010.1_Intron|PPP2R5D_ENST00000472118.1_Silent_p.P45P|PPP2R5D_ENST00000394110.3_Silent_p.P53P	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													33	601					0	0	1	0	0	A	42974254	G	A	42974254	2	1	22	1	0	0	0	0	0	0	0	1	12444	1132	40	1		1	PPP2R5D	6	42974254	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40817	42974254	128140813	7180	9326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461010.1_Intron|PPP2R5D_ENST00000472118.1_Silent_p.P56P|PPP2R5D_ENST00000394110.3_Silent_p.P64P	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													13	705					5.01169e-05	5.1097e-05	1	1	0	T	42974287	G	T	42974287	2	4	22	1	0	0	0	0	0	0	0	1	12444	1074	38	4		4	PPP2R5D	6	42974287	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33	42974287	128140780	7181	9327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000244670.8_Silent_p.P149P|KLHDC3_ENST00000332245.8_Silent_p.P224P	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													126	606					0	0	1	0	0	A	42986629	G	A	42986629	2	1	22	1	0	0	0	0	0	0	0	1	8400	1045	37	1		1	KLHDC3	6	42986629	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12342	42986629	128128438	7182	9328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	117					0	0	1	0	0	T	43005624	C	T	43005624	2	4	22	1	0	0	0	0	0	0	0	1	4083	755	27	1		1	CUL7	6	43005624	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18995	43005624	128109443	7183	9329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	272					1.03172e-35	1.23296e-35	1	1	0	A	43006104	C	A	43006104	3	1	22	1	0	0	0	0	1	0	0	0	4083	912	32	2	430	2	CUL7	6	43006104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	480	43006104	128108963	7184	9330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	283					0	0	1	0	0	A	43006154	G	A	43006154	3	1	22	1	0	0	0	0	1	0	0	0	4083	1086	38	1	480	1	CUL7	6	43006154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50	43006154	128108913	7185	9331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	211					0	0	1	0	0	T	43015930	C	T	43015930	3	4	22	1	0	0	0	0	1	0	0	0	4083	855	30	2	3043	2	CUL7	6	43015930	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9776	43015930	128099137	7186	9332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													220	1002					0	0	1	0	0	A	43016152	G	A	43016152	3	1	22	1	0	0	0	0	1	0	0	0	4083	1086	38	1	3191	1	CUL7	6	43016152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222	43016152	128098915	7187	9333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	530					0	0	1	0	0	T	43017878	C	T	43017878	4	4	22	1	0	0	0	0	0	1	0	0	4083	856	30	2	3788	2	CUL7	6	43017878	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1726	43017878	128097189	7188	9334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	307					0	0	1	0	0	T	43020447	C	T	43020447	3	4	22	1	0	0	0	0	1	0	0	0	4083	768	27	1	5212	1	CUL7	6	43020447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2569	43020447	128094620	7189	9335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481273.1_Missense_Mutation_p.P136H|PTK7_ENST00000345201.2_Missense_Mutation_p.P128H|PTK7_ENST00000349241.2_Missense_Mutation_p.P128H|PTK7_ENST00000471863.1_Missense_Mutation_p.P128H|PTK7_ENST00000352931.2_Missense_Mutation_p.P128H	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)	42	273					1.03325e-14	1.12462e-14	1	1	0	A	43097480	C	A	43097480	3	1	22	1	0	0	0	0	1	0	0	0	12815	681	24	2	393	2	PTK7	6	43097480	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77033	43097480	128017587	7190	9336											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481273.1_Silent_p.L872L|PTK7_ENST00000345201.2_Silent_p.L824L|PTK7_ENST00000349241.2_Silent_p.L734L|PTK7_ENST00000352931.2_Silent_p.L808L	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													77	309					0	0	1	0	0	T	43113120	C	T	43113120	2	4	22	1	0	0	0	0	0	0	0	1	12815	796	28	2		2	PTK7	6	43113120	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15640	43113120	128001947	7191	9337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354495.3_Silent_p.A140A|CUL9_ENST00000372647.2_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													92	423					0	0	1	0	0	T	43152468	C	T	43152468	2	4	22	1	0	0	0	0	0	0	0	1	4084	639	23	1		1	CUL9	6	43152468	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39348	43152468	127962599	7192	9338											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354495.3_Missense_Mutation_p.A423T|CUL9_ENST00000372647.2_Missense_Mutation_p.A533T	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													14	614					0	0	1	0	0	A	43155466	G	A	43155466	3	1	22	1	0	0	0	0	1	0	0	0	4084	1203	42	2	1619	2	CUL9	6	43155466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2998	43155466	127959601	7193	9339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CUL9_ENST00000354495.3_Missense_Mutation_p.A1810V|CUL9_ENST00000372647.2_Missense_Mutation_p.A1892V|RP3-330M21.5_ENST00000500590.1_RNA	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													138	580					0	0	1	0	0	T	43182887	C	T	43182887	3	4	22	1	0	0	0	0	1	0	0	0	4084	739	26	2	5873	2	CUL9	6	43182887	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27421	43182887	127932180	7194	9340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													131	651					0	0	1	0	0	T	43250511	C	T	43250511	3	4	22	1	0	0	0	0	1	0	0	0	16738	797	28	2	2083	2	TTBK1	6	43250511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67624	43250511	127864556	7195	9341											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	465					0	0	1	0	0	C	43251286	A	C	43251286	3	2	22	1	0	0	0	0	1	0	0	0	16738	11	1	3	2858	3	TTBK1	6	43251286	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	775	43251286	127863781	7196	9342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372574.3_Missense_Mutation_p.G116D|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G116D	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													52	218					0	0	1	0	0	A	43266443	G	A	43266443	3	1	22	1	0	0	0	0	1	0	0	0	14514	1203	42	2	349	2	SLC22A7	6	43266443	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15157	43266443	127848624	7197	9343											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	181					0	0	1	0	0	T	43305331	C	T	43305331	3	4	22	1	0	0	0	0	1	0	0	0	17893	710	25	2	438	2	ZNF318	6	43305331	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38888	43305331	127809736	7198	9344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	255					0	0	1	0	0	A	43305593	G	A	43305593	3	1	22	1	0	0	0	0	1	0	0	0	17893	942	33	2	700	2	ZNF318	6	43305593	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262	43305593	127809474	7199	9345											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	486					0	0	1	0	0	T	43305786	C	T	43305786	3	4	22	1	0	0	0	0	1	0	0	0	17893	913	32	2	893	2	ZNF318	6	43305786	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193	43305786	127809281	7200	9346	57	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													143	440					0	0	1	0	0	C	43305787	T	C	43305787	2	2	22	1	0	0	0	0	0	0	0	1	17893	1606	56	3		3	ZNF318	6	43305787	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1	43305787	127809280	7201	9347	57	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	502					2.36156e-58	2.96174e-58	1	1	0	T	43307732	G	T	43307732	3	4	22	1	0	0	0	0	1	0	0	0	17893	1000	35	2	2839	2	ZNF318	6	43307732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1945	43307732	127807335	7202	9348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43308239T>G	ENST00000361428.2	-	10	3574	c.3495_splice	c.e10-1	p.K1166_splice	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													22	182					0	0	1	0	0	G	43308239	T	G	43308239	5	3	22	1	0	0	0	0	0	0	1	0	17893	1855	64	3	3346	3	ZNF318	6	43308239	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	507	43308239	127806828	7203	9349											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	315					1.42676e-28	1.66098e-28	1	1	0	A	43324962	C	A	43324962	4	1	22	1	0	0	0	0	0	1	0	0	17893	690	24	2	5781	2	ZNF318	6	43324962	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16723	43324962	127790105	7204	9350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	447					0	0	1	0	0	A	43400035	G	A	43400035	3	1	22	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	7205	9351											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	388					4.05715e-38	4.88277e-38	1	1	0	T	43400424	G	T	43400424	3	4	22	1	0	0	0	0	1	0	0	0	50	1348	47	2	579	2	ABCC10	6	43400424	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	389	43400424	127714643	7206	9352											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	402					0	0	1	0	0	T	43400442	C	T	43400442	3	4	22	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	7207	9353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	474					0	0	1	0	0	A	43417778	G	A	43417778	2	1	22	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	7208	9354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	185					0	0	1	0	0	T	43418966	C	T	43418966	3	4	22	1	0	0	0	0	1	0	0	0	4593	710	25	2	692	2	DLK2	6	43418966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1188	43418966	127696101	7209	9355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	188					2.47907e-22	2.80423e-22	1	1	0	A	43420813	C	A	43420813	3	1	22	1	0	0	0	0	1	0	0	0	4593	796	28	2	962	2	DLK2	6	43420813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1847	43420813	127694254	7210	9356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	388					3.48785e-55	4.35778e-55	1	1	0	T	43480031	G	T	43480031	2	4	22	1	0	0	0	0	0	0	0	1	17539	1190	42	2		2	YIPF3	6	43480031	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59218	43480031	127635036	7211	9357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	824					0	0	1	0	0	A	43480841	G	A	43480841	3	1	22	1	0	0	0	0	1	0	0	0	17539	1203	42	2	436	2	YIPF3	6	43480841	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	810	43480841	127634226	7212	9358											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535400.1_Missense_Mutation_p.T129A|POLH_ENST00000372226.1_Missense_Mutation_p.T191A	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				64	323					0	0	1	0	0	G	43565513	A	G	43565513	3	3	22	1	0	0	0	0	1	0	0	0	12250	159	6	3	585	3	POLH	6	43565513	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	84672	43565513	127549554	7213	9359											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				56	223					0	0	1	0	0	T	43638647	C	T	43638647	3	4	22	1	0	0	0	0	1	0	0	0	13760	697	25	2	810	2	RSPH9	6	43638647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73134	43638647	127476420	7214	9360											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	464					5.48297e-45	6.7172e-45	1	1	0	T	44116249	G	T	44116249	5	4	22	1	0	0	0	0	0	0	1	0	16251	985	34	2	1171	2	TMEM63B	6	44116249	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	477602	44116249	126998818	7215	9361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44148732G>A	ENST00000398776.1	+	18	1905	c.1867G>A	c.(1867-1869)Gat>Aat	p.D623N	CAPN11_ENST00000542245.1_Missense_Mutation_p.D623N	NM_007058.3	NP_008989.2	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													187	864					0	0	1	0	0	A	44148732	G	A	44148732	3	1	22	1	0	0	0	0	1	0	0	0	2642	1174	41	2	1937	2	CAPN11	6	44148732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32483	44148732	126966335	7216	9362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	137					0	0	1	0	0	C	44229575	T	C	44229575	3	2	22	1	0	0	0	0	1	0	0	0	10427	1464	51	3	622	3	NFKBIE	6	44229575	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	80843	44229575	126885492	7217	9363											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|TCTE1_ENST00000371503.3_Missense_Mutation_p.R175H|TMEM151B_ENST00000438774.2_Intron	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													119	535					0	0	1	0	0	T	44247991	C	T	44247991	3	4	22	1	0	0	0	0	1	0	0	0	15776	768	27	1	76	1	TCTE1	6	44247991	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18416	44247991	126867076	7218	9364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	NM_020745.3	NP_065796.1	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													31	137					0	0	1	0	0	A	44270564	G	A	44270564	3	1	22	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	7219	9365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	NM_020745.3	NP_065796.1	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)	46	217					0	0	1	0	0	A	44272508	G	A	44272508	2	1	22	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	7220	9366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	NM_020745.3	NP_065796.1	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													168	748					5.25129e-67	6.64947e-67	1	1	0	T	44274124	G	T	44274124	3	4	22	1	0	0	0	0	1	0	0	0	20	1203	42	2	1820	2	AARS2	6	44274124	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1616	44274124	126840943	7221	9367											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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		NM_020745.3	NP_065796.1	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													114	539					1.76152e-51	2.18623e-51	1	1	0	T	44279892	G	T	44279892	3	4	22	1	0	0	0	0	1	0	0	0	20	991	35	2	2689	2	AARS2	6	44279892	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5768	44279892	126835175	7222	9368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	365					0	0	1	0	0	A	44371706	G	A	44371706	3	1	22	1	0	0	0	0	1	0	0	0	3104	971	34	2	722	2	CDC5L	6	44371706	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91814	44371706	126743361	7223	9369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	175					0	0	1	0	0	A	44394257	G	A	44394257	2	1	22	1	0	0	0	0	0	0	0	1	3104	1074	38	1		1	CDC5L	6	44394257	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22551	44394257	126720810	7224	9370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371436.6_Silent_p.Q232Q|RUNX2_ENST00000465038.2_Silent_p.Q232Q|RUNX2_ENST00000541979.1_Silent_p.Q300Q|RUNX2_ENST00000576263.1_Silent_p.Q232Q|RUNX2_ENST00000371432.3_Silent_p.Q218Q|RUNX2_ENST00000352853.5_Silent_p.Q300Q|RUNX2_ENST00000359524.5_Silent_p.Q218Q	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													79	958					0	0	1	0	0	A	45459688	G	A	45459688	2	1	22	1	0	0	0	0	0	0	0	1	13800	933	33	2		2	RUNX2	6	45459688	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1065431	45459688	125655379	7225	9371											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371436.6_Missense_Mutation_p.T454I|RUNX2_ENST00000465038.2_Missense_Mutation_p.T476I|RUNX2_ENST00000541979.1_Missense_Mutation_p.T522I|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000371432.3_Missense_Mutation_p.T440I|RUNX2_ENST00000352853.5_Missense_Mutation_p.T544I|RUNX2_ENST00000359524.5_Missense_Mutation_p.T462I	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													61	346					0	0	1	0	0	T	45514903	C	T	45514903	3	4	22	1	0	0	0	0	1	0	0	0	13800	507	18	2	1473	2	RUNX2	6	45514903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55215	45514903	125600164	7226	9372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	265					0	0	1	0	0	A	45870911	G	A	45870911	3	1	22	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	7227	9373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	540					0	0	1	0	0	T	46107841	C	T	46107841	3	4	22	1	0	0	0	0	1	0	0	0	5160	893	31	1	523	1	ENPP4	6	46107841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	236930	46107841	125007226	7228	9374											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	356					1.5739e-10	1.67034e-10	1	1	0	T	46108086	G	T	46108086	3	4	22	1	0	0	0	0	1	0	0	0	5160	1058	37	4	768	4	ENPP4	6	46108086	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	245	46108086	125006981	7229	9375											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	437					0	0	1	0	0	G	46129280	A	G	46129280	3	3	22	1	0	0	0	0	1	0	0	0	5161	159	6	3	220	3	ENPP5	6	46129280	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21194	46129280	124985787	7230	9376											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	389					6.10891e-31	7.17913e-31	1	1	0	T	46563770	G	T	46563770	3	4	22	1	0	0	0	0	1	0	0	0	4200	971	34	2	410	2	CYP39A1	6	46563770	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	434490	46563770	124551297	7231	9377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	172					0	0	1	0	0	T	46610004	C	T	46610004	3	4	22	1	0	0	0	0	1	0	0	0	4200	855	30	2	1244	2	CYP39A1	6	46610004	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46234	46610004	124505063	7232	9378											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													197	775					0	0	1	0	0	T	46657569	C	T	46657569	2	4	22	1	0	0	0	0	0	0	0	1	15793	912	32	2		2	TDRD6	6	46657569	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47565	46657569	124457498	7233	9379											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	358					0	0	1	0	0	A	46661801	T	A	46661801	3	1	22	1	0	0	0	0	1	0	0	0	15793	1841	64	5	5938	5	TDRD6	6	46661801	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4232	46661801	124453266	7234	9380											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	301					0	0	1	0	0	T	46677077	C	T	46677077	3	4	22	1	0	0	0	0	1	0	0	0	12057	913	32	2	485	2	PLA2G7	6	46677077	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15276	46677077	124437990	7235	9381											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	691					0	0	1	0	0	G	46787418	T	G	46787418	3	3	22	1	0	0	0	0	1	0	0	0	9525	1435	50	3	559	3	MEP1A	6	46787418	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	110341	46787418	124327649	7236	9382											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	334					0	0	1	0	0	A	46794235	G	A	46794235	3	1	22	1	0	0	0	0	1	0	0	0	9525	1319	46	2	957	2	MEP1A	6	46794235	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6817	46794235	124320832	7237	9383											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													133	643					0	0	1	0	0	T	46806754	C	T	46806754	3	4	22	1	0	0	0	0	1	0	0	0	9525	768	27	1	2176	1	MEP1A	6	46806754	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12519	46806754	124308313	7238	9384											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000362015.4_Silent_p.T798T|GPR116_ENST00000456426.2_Silent_p.T656T|GPR116_ENST00000265417.7_Silent_p.T798T|GPR116_ENST00000545669.1_Silent_p.T227T	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													36	167					0	0	1	0	0	T	46827246	C	T	46827246	2	4	22	1	0	0	0	0	0	0	0	1	6673	639	23	1		1	GPR116	6	46827246	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20492	46827246	124287821	7239	9385											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000362015.4_Silent_p.K550K|GPR116_ENST00000456426.2_Silent_p.K408K|GPR116_ENST00000265417.7_Silent_p.K550K|GPR116_ENST00000545669.1_5'UTR	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													65	339					0	0	1	0	0	T	46834846	C	T	46834846	2	4	22	1	0	0	0	0	0	0	0	1	6673	912	32	2		2	GPR116	6	46834846	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7600	46834846	124280221	7240	9386											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000362015.4_Missense_Mutation_p.T518I|GPR116_ENST00000456426.2_Missense_Mutation_p.T376I|GPR116_ENST00000265417.7_Missense_Mutation_p.T518I|GPR116_ENST00000545669.1_5'UTR	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													13	421					0	0	1	0	0	A	46836688	G	A	46836688	3	1	22	1	0	0	0	0	1	0	0	0	6673	1261	44	2	2527	2	GPR116	6	46836688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1842	46836688	124278379	7241	9387											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000362015.4_Missense_Mutation_p.G148W|GPR116_ENST00000456426.2_Missense_Mutation_p.G148W|GPR116_ENST00000265417.7_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													26	517					9.86323e-18	1.09066e-17	1	1	0	A	46851895	C	A	46851895	3	1	22	1	0	0	0	0	1	0	0	0	6673	681	24	2	3666	2	GPR116	6	46851895	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15207	46851895	124263172	7242	9388											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000362015.4_Missense_Mutation_p.V65I|GPR116_ENST00000456426.2_Missense_Mutation_p.V65I|GPR116_ENST00000265417.7_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													78	316					0	0	1	0	0	T	46856207	C	T	46856207	3	4	22	1	0	0	0	0	1	0	0	0	6673	478	17	2	3919	2	GPR116	6	46856207	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4312	46856207	124258860	7243	9389											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	247					6.21074e-16	6.80439e-16	1	1	0	A	46989795	C	A	46989795	5	1	22	1	0	0	0	0	0	0	1	0	6667	927	32	2	2371	2	GPR110	6	46989795	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133588	46989795	124125272	7244	9390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	284					0	0	1	0	0	A	47471177	G	A	47471177	5	1	22	1	0	0	0	0	0	0	1	0	3016	1275	44	2	172	2	CD2AP	6	47471177	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	481382	47471177	123643890	7245	9391											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	708					0	0	1	0	0	A	47776030	G	A	47776030	2	1	22	1	0	0	0	0	0	0	0	1	10931	1045	37	1		1	OPN5	6	47776030	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	304853	47776030	123339037	7246	9392											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:49426795C>A	ENST00000274813.3	-	2	512	c.385_splice	c.e2+1	p.A129_splice		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													27	200					9.86323e-18	1.09066e-17	1	1	0	A	49426795	C	A	49426795	5	1	22	1	0	0	0	0	0	0	1	0	10039	637	22	2	1915	2	MUT	6	49426795	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1650765	49426795	121688272	7247	9393											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	336					0	0	1	0	0	G	49427082	A	G	49427082	3	3	22	1	0	0	0	0	1	0	0	0	10039	420	15	3	2202	3	MUT	6	49427082	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	287	49427082	121687985	7248	9394											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536021.1_Missense_Mutation_p.V56G|CRISP1_ENST00000507853.1_Missense_Mutation_p.V56G|CRISP1_ENST00000505118.1_Missense_Mutation_p.V56G|CRISP1_ENST00000355791.2_Missense_Mutation_p.V56G|CRISP1_ENST00000329411.5_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													83	349					0	0	1	0	0	C	49819742	A	C	49819742	3	2	22	1	0	0	0	0	1	0	0	0	3902	43	2	3	606	3	CRISP1	6	49819742	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	392660	49819742	121295325	7249	9395											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	331					0	0	1	0	0	T	50681795	C	T	50681795	2	4	22	1	0	0	0	0	0	0	0	1	15850	842	30	2		2	TFAP2D	6	50681795	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	862053	50681795	120433272	7250	9396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	544					0	0	1	0	0	A	50683111	G	A	50683111	3	1	22	1	0	0	0	0	1	0	0	0	15850	1116	39	1	328	1	TFAP2D	6	50683111	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1316	50683111	120431956	7251	9397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	191					0	0	1	0	0	A	50786656	G	A	50786656	3	1	22	1	0	0	0	0	1	0	0	0	15848	1175	41	2	54	2	TFAP2B	6	50786656	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103545	50786656	120328411	7252	9398											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	620					0	0	1	0	0	A	51491841	G	A	51491841	2	1	22	1	0	0	0	0	0	0	0	1	12019	1190	42	2		2	PKHD1	6	51491841	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	705185	51491841	119623226	7253	9399											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	343					3.78398e-24	4.31794e-24	1	1	0	A	51618011	C	A	51618011	4	1	22	1	0	0	0	0	0	1	0	0	12019	922	32	2	3369	2	PKHD1	6	51618011	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126170	51618011	119497056	7254	9400											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	305					0	0	1	0	0	T	51771115	C	T	51771115	3	4	22	1	0	0	0	0	1	0	0	0	12019	565	20	2	5665	2	PKHD1	6	51771115	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153104	51771115	119343952	7255	9401											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	230					3.76997e-23	4.28119e-23	1	1	0	A	51900516	C	A	51900516	3	1	22	1	0	0	0	0	1	0	0	0	12019	623	22	2	9322	2	PKHD1	6	51900516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129401	51900516	119214551	7256	9402											
PKHD1	5314	broad.mit.edu	37	chr6	51918850	51918850	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctacctctcggggctggtCctcgtgagactccagtcaca	11	14	2	1	rs143226202	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51918850C>T	ENST00000371117.3	-	20	2225	c.1950G>A	c.(1948-1950)agG>agA	p.R650R	PKHD1_ENST00000340994.4_Silent_p.R650R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	650					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)					CGGGGCTGGTCCTCGTGAGAC	0.512													5	199					0	0	1	0	0	T	51918850	C	T	51918850	2	4	22	1	0	0	0	0	0	0	0	1	12019	854	30	2		2	PKHD1	6	51918850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18334	51918850	119196217	7257	9403											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	593					0	0	1	0	0	A	51944773	G	A	51944773	2	1	22	1	0	0	0	0	0	0	0	1	12019	1024	36	2		2	PKHD1	6	51944773	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25923	51944773	119170294	7258	9404											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	75					2.7689e-08	2.89045e-08	1	1	0	A	52132686	C	A	52132686	3	1	22	1	0	0	0	0	1	0	0	0	9437	680	24	2	393	2	MCM3	6	52132686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187913	52132686	118982381	7259	9405											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Missense_Mutation_p.R395Q	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													9	125					0	0	1	0	0	T	52141118	C	T	52141118	3	4	22	1	0	0	0	0	1	0	0	0	9437	652	23	1	1140	1	MCM3	6	52141118	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8432	52141118	118973949	7260	9406											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	250					3.21987e-24	3.67739e-24	1	1	0	A	52147572	C	A	52147572	3	1	22	1	0	0	0	0	1	0	0	0	9437	796	28	2	2207	2	MCM3	6	52147572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6454	52147572	118967495	7261	9407											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	396					0	0	1	0	0	G	52148176	A	G	52148176	3	3	22	1	0	0	0	0	1	0	0	0	9437	43	2	3	2383	3	MCM3	6	52148176	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	604	52148176	118966891	7262	9408											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	130					0	0	1	0	0	A	52268034	G	A	52268034	3	1	22	1	0	0	0	0	1	0	0	0	11488	1087	38	1	25	1	PAQR8	6	52268034	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119858	52268034	118847033	7263	9409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	477					0	0	1	0	0	A	52268422	G	A	52268422	2	1	22	1	0	0	0	0	0	0	0	1	11488	962	34	2		2	PAQR8	6	52268422	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	388	52268422	118846645	7264	9410											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	156					0	0	1	0	0	T	52268953	C	T	52268953	2	4	22	1	0	0	0	0	0	0	0	1	11488	726	26	2		2	PAQR8	6	52268953	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	531	52268953	118846114	7265	9411											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433625.2_5'UTR|EFHC1_ENST00000538167.1_Missense_Mutation_p.T11M	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													92	365					0	0	1	0	0	T	52288769	C	T	52288769	3	4	22	1	0	0	0	0	1	0	0	0	4972	536	19	1	105	1	EFHC1	6	52288769	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19816	52288769	118826298	7266	9412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433625.2_Missense_Mutation_p.F347I|EFHC1_ENST00000538167.1_Missense_Mutation_p.F419I	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													19	475					0	0	1	0	0	A	52343868	T	A	52343868	3	1	22	1	0	0	0	0	1	0	0	0	4972	1493	52	5	1352	5	EFHC1	6	52343868	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	55099	52343868	118771199	7267	9413											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52354937G>T	ENST00000371068.5	+	10	1743		c.e10-1		EFHC1_ENST00000433625.2_Splice_Site|EFHC1_ENST00000538167.1_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													31	176					7.68411e-24	8.75532e-24	1	1	0	T	52354937	G	T	52354937	5	4	22	1	0	0	0	0	0	0	1	0	4972	985	34	2	1688	2	EFHC1	6	52354937	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11069	52354937	118760130	7268	9414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	1206					0	0	1	0	0	C	52617718	T	C	52617718	2	2	22	1	0	0	0	0	0	0	0	1	6872	1722	60	3		3	GSTA2	6	52617718	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	262781	52617718	118497349	7269	9415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	413					0	0	1	0	0	A	52622688	G	A	52622688	3	1	22	1	0	0	0	0	1	0	0	0	6872	1115	39	1	634	1	GSTA2	6	52622688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4970	52622688	118492379	7270	9416	58	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	364					0	0	1	0	0	A	52622689	G	A	52622689	2	1	22	1	0	0	0	0	0	0	0	1	6872	1164	41	2		2	GSTA2	6	52622689	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1	52622689	118492378	7271	9417	58	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52699025G>T	ENST00000370989.1	-	5	486	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	110	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													146	677					8.19216e-75	1.04411e-74	1	1	0	T	52699025	G	T	52699025	3	4	22	1	0	0	0	0	1	0	0	0	6875	971	34	2	352	2	GSTA5	6	52699025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76336	52699025	118416042	7272	9418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52701122C>T	ENST00000370989.1	-	4	342	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	62	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													155	731					0	0	1	0	0	T	52701122	C	T	52701122	3	4	22	1	0	0	0	0	1	0	0	0	6875	652	23	1	500	1	GSTA5	6	52701122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2097	52701122	118413945	7273	9419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	238					0	0	1	0	0	C	52770568	A	C	52770568	3	2	22	1	0	0	0	0	1	0	0	0	6873	304	11	3	627	3	GSTA3	6	52770568	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69446	52770568	118344499	7274	9420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52847504C>T	ENST00000541324.1	-	4	401		c.e4-1		GSTA4_ENST00000370959.1_Splice_Site|GSTA4_ENST00000486559.1_Splice_Site|GSTA4_ENST00000370960.1_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													29	344					0	0	1	0	0	T	52847504	C	T	52847504	5	4	22	1	0	0	0	0	0	0	1	0	6874	927	32	2	262	2	GSTA4	6	52847504	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76936	52847504	118267563	7275	9421											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52895864G>A	ENST00000356971.3	-	6	846	c.358_splice	c.e6+1	p.H119_splice	ICK_ENST00000350082.5_Splice_Site_p.H119_splice	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													58	233					0	0	1	0	0	A	52895864	G	A	52895864	5	1	22	1	0	0	0	0	0	0	1	0	7528	1159	40	1	1581	1	ICK	6	52895864	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48360	52895864	118219203	7276	9422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	288					0	0	1	0	0	G	52995599	A	G	52995599	5	3	22	1	0	0	0	0	0	0	1	0	6337	405	14	3	746	3	GCM1	6	52995599	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	99735	52995599	118119468	7277	9423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	449					1.14904e-54	1.4347e-54	1	1	0	A	52995674	C	A	52995674	3	1	22	1	0	0	0	0	1	0	0	0	6337	913	32	2	821	2	GCM1	6	52995674	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75	52995674	118119393	7278	9424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	434					2.15005e-58	2.69688e-58	1	1	0	T	53010408	G	T	53010408	3	4	22	1	0	0	0	0	1	0	0	0	6337	942	33	2	1307	2	GCM1	6	53010408	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14734	53010408	118104659	7279	9425											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53370601C>A	ENST00000229416.6	-	11	1773	c.1290_splice	c.e11+1	p.E430_splice	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													14	370					2.32078e-09	2.442e-09	1	1	0	A	53370601	C	A	53370601	5	1	22	1	0	0	0	0	0	0	1	0	6335	695	24	2	647	2	GCLC	6	53370601	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	360193	53370601	117744466	7280	9426											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	324					7.31121e-38	8.79105e-38	1	1	0	A	53519407	C	A	53519407	3	1	22	1	0	0	0	0	1	0	0	0	8428	913	32	2	1248	2	KLHL31	6	53519407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148806	53519407	117595660	7281	9427											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	318					0	0	1	0	0	G	53519553	A	G	53519553	3	3	22	1	0	0	0	0	1	0	0	0	8428	217	8	3	1394	3	KLHL31	6	53519553	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	146	53519553	117595514	7282	9428											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370864.3_Silent_p.K3K|TINAG_ENST00000370869.3_Silent_p.K17K	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													55	336					0	0	1	0	0	A	54173411	G	A	54173411	2	1	22	1	0	0	0	0	0	0	0	1	15981	962	34	2		2	TINAG	6	54173411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	653858	54173411	116941656	7283	9429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370864.3_Missense_Mutation_p.E72D|TINAG_ENST00000370869.3_Missense_Mutation_p.E86D	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													112	475					0	0	1	0	0	C	54173618	A	C	54173618	3	2	22	1	0	0	0	0	1	0	0	0	15981	11	1	3	272	3	TINAG	6	54173618	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	207	54173618	116941449	7284	9430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	237					0	0	1	0	0	T	54219400	C	T	54219400	4	4	22	1	0	0	0	0	0	1	0	0	15981	876	31	1	1250	1	TINAG	6	54219400	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45782	54219400	116895667	7285	9431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	448					1.04646e-50	1.29704e-50	1	1	0	T	54735119	G	T	54735119	3	4	22	1	0	0	0	0	1	0	0	0	5666	991	35	2	77	2	FAM83B	6	54735119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	515719	54735119	116379948	7286	9432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	367					0	0	1	0	0	T	54805024	C	T	54805024	3	4	22	1	0	0	0	0	1	0	0	0	5666	739	26	2	1269	2	FAM83B	6	54805024	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69905	54805024	116310043	7287	9433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	401					2.23348e-06	2.30073e-06	1	1	0	A	54805335	C	A	54805335	2	1	22	1	0	0	0	0	0	0	0	1	5666	784	28	2		2	FAM83B	6	54805335	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	311	54805335	116309732	7288	9434											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	138					0	0	1	0	0	C	55128552	T	C	55128552	3	2	22	1	0	0	0	0	1	0	0	0	7043	1406	49	3	708	3	HCRTR2	6	55128552	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	323217	55128552	115986515	7289	9435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	403					0	0	1	0	0	T	55216312	C	T	55216312	3	4	22	1	0	0	0	0	1	0	0	0	6393	710	25	2	650	2	GFRAL	6	55216312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87760	55216312	115898755	7290	9436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000274901.4_Silent_p.G280G|HMGCLL1_ENST00000507223.1_5'UTR|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													68	324					0	0	1	0	0	A	55304313	G	A	55304313	2	1	22	1	0	0	0	0	0	0	0	1	7271	958	34	2		2	HMGCLL1	6	55304313	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88001	55304313	115810754	7291	9437											
BMP5	653	broad.mit.edu	37	chr6	55623887	55623887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcacaataaaatgcagcGtatccttctggtgctataat	6	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55623887G>A	ENST00000370830.3	-	6	1829	c.1131C>T	c.(1129-1131)taC>taT	p.Y377Y	BMP5_ENST00000446683.2_Intron	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	377					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)			AAAATGCAGCGTATCCTTCTG	0.343													82	353					0	0	1	0	0	A	55623887	G	A	55623887	2	1	22	1	0	0	0	0	0	0	0	1	1462	1140	40	1		1	BMP5	6	55623887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	319574	55623887	115491180	7292	9438											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													199	947					0	0	1	0	0	G	55739599	A	G	55739599	3	3	22	1	0	0	0	0	1	0	0	0	1462	159	6	3	1327	3	BMP5	6	55739599	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	115712	55739599	115375468	7293	9439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370808.2_Nonsense_Mutation_p.G320*|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.G954*	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													27	107					1.50538e-07	1.5642e-07	1	1	0	A	55922469	C	A	55922469	4	1	22	1	0	0	0	0	0	1	0	0	3703	690	24	2	17	2	COL21A1	6	55922469	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182870	55922469	115192598	7294	9440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	55					0	0	1	0	0	T	56035650	C	T	56035650	3	4	22	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	7295	9441											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	247					6.40141e-05	6.5221e-05	1	1	0	A	56035927	C	A	56035927	5	1	22	1	0	0	0	0	0	0	1	0	3703	927	32	2	2341	2	COL21A1	6	56035927	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	277	56035927	115079140	7296	9442											
DST	667	broad.mit.edu	37	chr6	56328406	56328406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtggggaggccgcctgcGcagcctgactggacacagaa	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56328406G>A	ENST00000370754.5	-	100	22822	c.22823C>T	c.(22822-22824)gCg>gTg	p.A7608V	DST_ENST00000446842.2_Missense_Mutation_p.A7104V|DST_ENST00000361203.3_Missense_Mutation_p.A7319V|DST_ENST00000370769.4_Missense_Mutation_p.A7430V|DST_ENST00000421834.2_Missense_Mutation_p.A5315V|DST_ENST00000244364.6_Missense_Mutation_p.A4992V|DST_ENST00000370788.2_Missense_Mutation_p.A5233V|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	7428					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)			GGCCGCCTGCGCAGCCTGACT	0.587													80	353					0	0	1	0	0	A	56328406	G	A	56328406	3	1	22	1	0	0	0	0	1	0	0	0	4809	1087	38	1	556	1	DST	6	56328406	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	292479	56328406	114786661	7297	9443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446842.2_Missense_Mutation_p.D6672N|DST_ENST00000361203.3_Missense_Mutation_p.D6887N|DST_ENST00000370769.4_Missense_Mutation_p.D6998N|DST_ENST00000421834.2_Missense_Mutation_p.D4910N|DST_ENST00000244364.6_Missense_Mutation_p.D4584N|DST_ENST00000370788.2_Missense_Mutation_p.D4801N|DST_ENST00000312431.6_3'UTR			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													77	348					0	0	1	0	0	T	56342199	C	T	56342199	3	4	22	1	0	0	0	0	1	0	0	0	4809	884	31	1	1817	1	DST	6	56342199	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13793	56342199	114772868	7298	9444											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446842.2_Missense_Mutation_p.R5330W|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Missense_Mutation_p.R5656W|DST_ENST00000421834.2_Missense_Mutation_p.R3568W|DST_ENST00000244364.6_Missense_Mutation_p.R3242W|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'UTR			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													27	134					0	0	1	0	0	A	56394248	G	A	56394248	3	1	22	1	0	0	0	0	1	0	0	0	4809	1057	37	1	5943	1	DST	6	56394248	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52049	56394248	114720819	7299	9445											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446842.2_Silent_p.Y4776Y|DST_ENST00000361203.3_Silent_p.Y5100Y|DST_ENST00000370769.4_Silent_p.Y5102Y|DST_ENST00000421834.2_Silent_p.Y3014Y|DST_ENST00000244364.6_Silent_p.Y2688Y|DST_ENST00000370788.2_Silent_p.Y3014Y|DST_ENST00000312431.6_3'UTR			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													122	514					0	0	1	0	0	A	56417657	G	A	56417657	2	1	22	1	0	0	0	0	0	0	0	1	4809	1256	44	2		2	DST	6	56417657	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23409	56417657	114697410	7300	9446											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446842.2_Missense_Mutation_p.S3056R|DST_ENST00000361203.3_Missense_Mutation_p.S3382R|DST_ENST00000370769.4_Missense_Mutation_p.S3382R|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.S3382R			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													16	95					1.15088e-07	1.19614e-07	1	1	0	T	56468647	G	T	56468647	3	4	22	1	0	0	0	0	1	0	0	0	4809	986	34	2		2	DST	6	56468647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50990	56468647	114646420	7301	9447											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446842.2_Missense_Mutation_p.R1887M|DST_ENST00000361203.3_Missense_Mutation_p.R2213M|DST_ENST00000370769.4_Missense_Mutation_p.R2213M|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.R2213M			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													7	232					8.12818e-05	8.2724e-05	1	1	0	A	56472155	C	A	56472155	3	1	22	1	0	0	0	0	1	0	0	0	4809	696	24	2		2	DST	6	56472155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3508	56472155	114642912	7302	9448											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446842.2_Missense_Mutation_p.L1806F|DST_ENST00000361203.3_Missense_Mutation_p.L2132F|DST_ENST00000370769.4_Missense_Mutation_p.L2132F|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.L2132F			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													16	85					0	0	1	0	0	A	56472399	G	A	56472399	3	1	22	1	0	0	0	0	1	0	0	0	4809	957	33	2		2	DST	6	56472399	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	244	56472399	114642668	7303	9449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446842.2_Missense_Mutation_p.R1505H|DST_ENST00000361203.3_Missense_Mutation_p.R1831H|DST_ENST00000370769.4_Missense_Mutation_p.R1831H|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.R1831H			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													25	124					0	0	1	0	0	T	56473301	C	T	56473301	3	4	22	1	0	0	0	0	1	0	0	0	4809	551	19	1		1	DST	6	56473301	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	902	56473301	114641766	7304	9450											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_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													28	686					0	0	1	0	0	G	56483562	T	G	56483562	3	3	22	1	0	0	0	0	1	0	0	0	4809	1609	56	3	15133	3	DST	6	56483562	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10261	56483562	114631505	7305	9451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_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													71	373					0	0	1	0	0	G	56484401	A	G	56484401	2	3	22	1	0	0	0	0	0	0	0	1	4809	330	12	3		3	DST	6	56484401	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	839	56484401	114630666	7306	9452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446842.2_Silent_p.L1011L|DST_ENST00000361203.3_Silent_p.L1337L|DST_ENST00000370769.4_Silent_p.L1337L|DST_ENST00000370765.6_Silent_p.L1011L|DST_ENST00000421834.2_Silent_p.L1337L|DST_ENST00000244364.6_Silent_p.L1011L|DST_ENST00000370788.2_Silent_p.L1337L|DST_ENST00000518935.1_Silent_p.L1011L|DST_ENST00000312431.6_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													91	418					0	0	1	0	0	A	56492082	G	A	56492082	2	1	22	1	0	0	0	0	0	0	0	1	4809	962	34	2		2	DST	6	56492082	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7681	56492082	114622985	7307	9453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446842.2_Missense_Mutation_p.D930A|DST_ENST00000361203.3_Missense_Mutation_p.D1256A|DST_ENST00000370769.4_Missense_Mutation_p.D1256A|DST_ENST00000370765.6_Missense_Mutation_p.D930A|DST_ENST00000421834.2_Missense_Mutation_p.D1256A|DST_ENST00000244364.6_Missense_Mutation_p.D930A|DST_ENST00000370788.2_Missense_Mutation_p.D1256A|DST_ENST00000518935.1_Missense_Mutation_p.D930A|DST_ENST00000312431.6_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													90	448					0	0	1	0	0	G	56494123	T	G	56494123	3	3	22	1	0	0	0	0	1	0	0	0	4809	1435	50	3	17634	3	DST	6	56494123	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2041	56494123	114620944	7308	9454											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446842.2_Missense_Mutation_p.R662K|DST_ENST00000361203.3_Missense_Mutation_p.R988K|DST_ENST00000370769.4_Missense_Mutation_p.R988K|DST_ENST00000370765.6_Missense_Mutation_p.R662K|DST_ENST00000421834.2_Missense_Mutation_p.R988K|DST_ENST00000244364.6_Missense_Mutation_p.R662K|DST_ENST00000370788.2_Missense_Mutation_p.R988K|DST_ENST00000518935.1_Missense_Mutation_p.R662K|DST_ENST00000312431.6_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													93	438					0	0	1	0	0	T	56498955	C	T	56498955	3	4	22	1	0	0	0	0	1	0	0	0	4809	913	32	2	18458	2	DST	6	56498955	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4832	56498955	114616112	7309	9455											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446842.2_Silent_p.D519D|DST_ENST00000361203.3_Silent_p.D845D|DST_ENST00000370769.4_Silent_p.D845D|DST_ENST00000370765.6_Silent_p.D519D|DST_ENST00000421834.2_Silent_p.D845D|DST_ENST00000244364.6_Silent_p.D519D|DST_ENST00000370788.2_Silent_p.D845D|DST_ENST00000518935.1_Silent_p.D519D|DST_ENST00000312431.6_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													26	130					0	0	1	0	0	A	56500405	G	A	56500405	2	1	22	1	0	0	0	0	0	0	0	1	4809	1252	44	2		2	DST	6	56500405	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1450	56500405	114614662	7310	9456											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446842.2_Missense_Mutation_p.A382V|DST_ENST00000361203.3_Missense_Mutation_p.A708V|DST_ENST00000370769.4_Missense_Mutation_p.A708V|DST_ENST00000370765.6_Missense_Mutation_p.A382V|DST_ENST00000421834.2_Missense_Mutation_p.A708V|DST_ENST00000244364.6_Missense_Mutation_p.A382V|DST_ENST00000370788.2_Missense_Mutation_p.A708V|DST_ENST00000518935.1_Missense_Mutation_p.A382V|DST_ENST00000312431.6_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													97	424					0	0	1	0	0	A	56504351	G	A	56504351	3	1	22	1	0	0	0	0	1	0	0	0	4809	1087	38	1	19322	1	DST	6	56504351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3946	56504351	114610716	7311	9457											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446842.2_Missense_Mutation_p.R162H|DST_ENST00000361203.3_Missense_Mutation_p.R488H|DST_ENST00000370769.4_Missense_Mutation_p.R488H|DST_ENST00000370765.6_Missense_Mutation_p.R162H|DST_ENST00000421834.2_Missense_Mutation_p.R488H|DST_ENST00000244364.6_Missense_Mutation_p.R162H|DST_ENST00000370788.2_Missense_Mutation_p.R488H|DST_ENST00000518935.1_Missense_Mutation_p.R162H|DST_ENST00000312431.6_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													96	445					0	0	1	0	0	T	56505335	C	T	56505335	3	4	22	1	0	0	0	0	1	0	0	0	4809	768	27	1	19994	1	DST	6	56505335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	984	56505335	114609732	7312	9458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361203.3_Missense_Mutation_p.D199Y|DST_ENST00000370769.4_Missense_Mutation_p.D199Y|DST_ENST00000421834.2_Missense_Mutation_p.D199Y|DST_ENST00000370788.2_Missense_Mutation_p.D199Y|DST_ENST00000312431.6_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													12	56					5.50884e-06	5.65664e-06	1	1	0	A	56516029	C	A	56516029	3	1	22	1	0	0	0	0	1	0	0	0	4809	928	32	2		2	DST	6	56516029	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10694	56516029	114599038	7313	9459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361203.3_Missense_Mutation_p.A153T|DST_ENST00000370769.4_Missense_Mutation_p.A153T|DST_ENST00000421834.2_Missense_Mutation_p.A153T|DST_ENST00000370788.2_Missense_Mutation_p.A153T|DST_ENST00000312431.6_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													13	73					0	0	1	0	0	T	56535563	C	T	56535563	3	4	22	1	0	0	0	0	1	0	0	0	4809	725	25	2		2	DST	6	56535563	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19534	56535563	114579504	7314	9460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	25	127					0	0	1	0	0	C	56716322	A	C	56716322	2	2	22	1	0	0	0	0	0	0	0	1	4809	203	7	3		3	DST	6	56716322	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	180759	56716322	114398745	7315	9461											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370746.3_Missense_Mutation_p.A72T|BEND6_ENST00000370750.2_Missense_Mutation_p.A72T|BEND6_ENST00000370745.1_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													138	653					0	0	1	0	0	A	56857269	G	A	56857269	3	1	22	1	0	0	0	0	1	0	0	0	1400	1087	38	1	220	1	BEND6	6	56857269	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140947	56857269	114257798	7316	9462											
ZNF451	26036	broad.mit.edu	37	chr6	57012217	57012218	+	Frame_Shift_Ins	INS	-	-	A													ctggagtgcattgccattccINSaaaaaagaagatgaatttaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:57012217_57012218insA	ENST00000370706.4	+	10	1578_1579	c.1334_1335insA	c.(1333-1335)caafs	p.Q445fs	ZNF451_ENST00000491832.2_Frame_Shift_Ins_p.Q445fs|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Frame_Shift_Ins_p.Q445fs	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	445					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)			ATTGCCATTCCAAAAAAGAAGA	0.342													65	334	---	---	---	---						A	57012218	-	A	57012217	7	5	22	1	0	1	1	0	0	0	0	0	17979	594	21	0	1372	0	ZNF451	6	57012217	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	154948	57012217	114102850	7317	9463											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	533					0	0	1	0	0	T	63990245	C	T	63990245	3	4	22	1	0	0	0	0	1	0	0	0	8799	652	23	1	322	1	LGSN	6	63990245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6978028	63990245	107124822	7318	9464											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	419					0	0	1	0	0	T	63990442	C	T	63990442	3	4	22	1	0	0	0	0	1	0	0	0	8799	884	31	1	519	1	LGSN	6	63990442	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	197	63990442	107124625	7319	9465											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	342					4.88506e-25	5.59823e-25	1	1	0	A	64004878	C	A	64004878	3	1	22	1	0	0	0	0	1	0	0	0	8799	565	20	2	1438	2	LGSN	6	64004878	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14436	64004878	107110189	7320	9466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	263					0	0	1	0	0	T	64004931	C	T	64004931	3	4	22	1	0	0	0	0	1	0	0	0	8799	739	26	2	1491	2	LGSN	6	64004931	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53	64004931	107110136	7321	9467											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	316					5.32961e-40	6.45334e-40	1	1	0	T	64289169	G	T	64289169	3	4	22	1	0	0	0	0	1	0	0	0	12820	1029	36	2	351	2	PTP4A1	6	64289169	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	284238	64289169	106825898	7322	9468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													151	666					1.893e-82	2.42261e-82	1	1	0	T	64394104	G	T	64394104	3	4	22	1	0	0	0	0	1	0	0	0	11884	971	34	2	491	2	PHF3	6	64394104	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104935	64394104	106720963	7323	9469											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	293					0	0	1	0	0	A	64410340	G	A	64410340	3	1	22	1	0	0	0	0	1	0	0	0	11884	1058	37	1	3113	1	PHF3	6	64410340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16236	64410340	106704727	7324	9470											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	461					5.86298e-51	7.2719e-51	1	1	0	T	64422753	G	T	64422753	4	4	22	1	0	0	0	0	0	1	0	0	11884	1001	35	2	5327	2	PHF3	6	64422753	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12413	64422753	106692314	7325	9471											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370621.3_Silent_p.N515N|EYS_ENST00000342421.5_Silent_p.N515N|EYS_ENST00000393380.2_Silent_p.N515N|EYS_ENST00000370616.2_Silent_p.N515N|EYS_ENST00000370618.3_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													59	272					0	0	1	0	0	A	66053985	G	A	66053985	2	1	22	1	0	0	0	0	0	0	0	1	5360	1136	40	1		1	EYS	6	66053985	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1631232	66053985	105061082	7326	9472											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370621.3_Missense_Mutation_p.F465V|EYS_ENST00000342421.5_Missense_Mutation_p.F465V|EYS_ENST00000393380.2_Missense_Mutation_p.F465V|EYS_ENST00000370616.2_Missense_Mutation_p.F465V|EYS_ENST00000370618.3_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													63	328					0	0	1	0	0	C	66063417	A	C	66063417	3	2	22	1	0	0	0	0	1	0	0	0	5360	72	3	3	8143	3	EYS	6	66063417	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9432	66063417	105051650	7327	9473											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370621.3_Nonsense_Mutation_p.Y452*|EYS_ENST00000342421.5_Nonsense_Mutation_p.Y452*|EYS_ENST00000393380.2_Nonsense_Mutation_p.Y452*|EYS_ENST00000370616.2_Nonsense_Mutation_p.Y452*|EYS_ENST00000370618.3_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													59	300					1.19403e-26	1.3775e-26	1	1	0	T	66063454	G	T	66063454	4	4	22	1	0	0	0	0	0	1	0	0	5360	1256	44	2	8180	2	EYS	6	66063454	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	66063454	105051613	7328	9474											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370621.3_Missense_Mutation_p.D86N|EYS_ENST00000342421.5_Missense_Mutation_p.D86N|EYS_ENST00000393380.2_Missense_Mutation_p.D86N|EYS_ENST00000370616.2_Missense_Mutation_p.D86N|EYS_ENST00000370618.3_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													72	416					0	0	1	0	0	T	66205048	C	T	66205048	3	4	22	1	0	0	0	0	1	0	0	0	5360	913	32	2	9300	2	EYS	6	66205048	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141594	66205048	104910019	7329	9475											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001695.1	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													12	640					0	0	1	0	0	G	69653757	T	G	69653757	3	3	22	1	0	0	0	0	1	0	0	0	1298	1838	64	3	1080	3	BAI3	6	69653757	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3448709	69653757	101461310	7330	9476											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001695.1	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													10	617					0	0	1	0	0	T	69949055	C	T	69949055	2	4	22	1	0	0	0	0	0	0	0	1	1298	912	32	2		2	BAI3	6	69949055	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	295298	69949055	101166012	7331	9477	59	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001695.1	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													98	521					0	0	1	0	0	T	69949063	C	T	69949063	3	4	22	1	0	0	0	0	1	0	0	0	1298	913	32	2	2829	2	BAI3	6	69949063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8	69949063	101166004	7332	9478	59	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000546190.1_Missense_Mutation_p.I183S|BAI3_ENST00000238918.8_Missense_Mutation_p.I425S	NM_001704.2	NP_001695.1	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													67	388					0	0	1	0	0	G	70070821	T	G	70070821	3	3	22	1	0	0	0	0	1	0	0	0	1298	1493	52	3	3762	3	BAI3	6	70070821	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	121758	70070821	101044246	7333	9479											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	184					0	0	1	0	0	A	70608839	G	A	70608839	5	1	22	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	7334	9480											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	252					0	0	1	0	0	T	70852662	C	T	70852662	4	4	22	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	7335	9481											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	328					0	0	1	0	0	G	70866246	A	G	70866246	2	3	22	1	0	0	0	0	0	0	0	1	3699	233	9	3		3	COL19A1	6	70866246	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13584	70866246	100248821	7336	9482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370499.4_Missense_Mutation_p.G325R|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_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													54	213					0	0	1	0	0	T	70964196	C	T	70964196	3	4	22	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	7337	9483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70972947T>C	ENST00000357250.6	-	19	1553	c.1395_splice	c.e19+1	p.P465_splice	COL9A1_ENST00000370499.4_Splice_Site_p.P222_splice|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Splice_Site_p.P222_splice	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													27	113					0	0	1	0	0	C	70972947	T	C	70972947	5	2	22	1	0	0	0	0	0	0	1	0	3730	1594	55	3	1450	3	COL9A1	6	70972947	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8751	70972947	100142120	7338	9484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000505769.1_Intron|FAM135A_ENST00000505868.1_Missense_Mutation_p.N841H|FAM135A_ENST00000457062.2_Missense_Mutation_p.N628H|FAM135A_ENST00000361499.3_Missense_Mutation_p.N645H|FAM135A_ENST00000370479.3_Missense_Mutation_p.N628H	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													44	173					0	0	1	0	0	C	71235308	A	C	71235308	3	2	22	1	0	0	0	0	1	0	0	0	5479	14	1	3	2649	3	FAM135A	6	71235308	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	262361	71235308	99879759	7339	9485											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000505769.1_Silent_p.S771S|FAM135A_ENST00000505868.1_Silent_p.S1191S|FAM135A_ENST00000457062.2_Silent_p.S978S|FAM135A_ENST00000361499.3_Silent_p.S995S|FAM135A_ENST00000370479.3_Silent_p.S978S	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													63	325					0	0	1	0	0	A	71236360	G	A	71236360	2	1	22	1	0	0	0	0	0	0	0	1	5479	1045	37	1		1	FAM135A	6	71236360	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1052	71236360	99878707	7340	9486											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000505769.1_Missense_Mutation_p.R882H|FAM135A_ENST00000505868.1_Missense_Mutation_p.R1302H|FAM135A_ENST00000457062.2_Missense_Mutation_p.R1089H|FAM135A_ENST00000361499.3_Missense_Mutation_p.R1106H|FAM135A_ENST00000370479.3_Missense_Mutation_p.R1089H	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													15	82					0	0	1	0	0	A	71243497	G	A	71243497	3	1	22	1	0	0	0	0	1	0	0	0	5479	1145	40	1	4045	1	FAM135A	6	71243497	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7137	71243497	99871570	7341	9487											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000505769.1_Missense_Mutation_p.G905R|FAM135A_ENST00000505868.1_Missense_Mutation_p.G1325R|FAM135A_ENST00000457062.2_Missense_Mutation_p.G1112R|FAM135A_ENST00000361499.3_Missense_Mutation_p.G1129R|FAM135A_ENST00000370479.3_Missense_Mutation_p.G1112R	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													55	288					0	0	1	0	0	A	71245970	G	A	71245970	3	1	22	1	0	0	0	0	1	0	0	0	5479	1349	47	2	4117	2	FAM135A	6	71245970	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2473	71245970	99869097	7342	9488											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000423255.1_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													139	609					1.8369e-69	2.33114e-69	1	1	0	T	72011229	G	T	72011229	3	4	22	1	0	0	0	0	1	0	0	0	10892	1029	36	2	859	2	OGFRL1	6	72011229	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	765259	72011229	99103838	7343	9489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000517960.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.E207*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.E207*|RIMS1_ENST00000521978.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000518273.1_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													10	409					2.17888e-05	2.22852e-05	1	1	0	T	72889425	G	T	72889425	4	4	22	1	0	0	0	0	0	1	0	0	13419	943	33	2	637	2	RIMS1	6	72889425	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	878196	72889425	98225642	7344	9490											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000517960.1_Missense_Mutation_p.R776C|RIMS1_ENST00000348717.5_Missense_Mutation_p.R776C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R235C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R776C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R776C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R776C|RIMS1_ENST00000523963.1_Missense_Mutation_p.R250C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R250C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R169C|RIMS1_ENST00000521978.1_Missense_Mutation_p.R776C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R776C			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													15	95					0	0	1	0	0	T	72960117	C	T	72960117	3	4	22	1	0	0	0	0	1	0	0	0	13419	536	19	1	2539	1	RIMS1	6	72960117	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70692	72960117	98154950	7345	9491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431478.2_3'UTR|RIMS1_ENST00000517960.1_Silent_p.C1370C|RIMS1_ENST00000348717.5_Silent_p.C1370C|RIMS1_ENST00000517827.1_Silent_p.C721C|RIMS1_ENST00000522291.1_Silent_p.C1186C|RIMS1_ENST00000520567.1_Silent_p.C1237C|RIMS1_ENST00000491071.2_Silent_p.C1376C|RIMS1_ENST00000538414.1_Silent_p.C393C|RIMS1_ENST00000523963.1_Silent_p.C712C|RIMS1_ENST00000401910.3_Silent_p.C907C|RIMS1_ENST00000414192.2_Silent_p.C114C|RIMS1_ENST00000425662.2_Silent_p.C655C|RIMS1_ENST00000521978.1_Silent_p.C1587C|RIMS1_ENST00000518273.1_Silent_p.C1266C			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													40	167					0	0	1	0	0	C	73108697	T	C	73108697	2	2	22	1	0	0	0	0	0	0	0	1	13419	1644	57	3		3	RIMS1	6	73108697	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	148580	73108697	98006370	7346	9492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000414165.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000370398.1_Missense_Mutation_p.S280L|KCNQ5_ENST00000370392.1_Missense_Mutation_p.S280L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.S280L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S280L|KCNQ5_ENST00000403813.2_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													20	134					0	0	1	0	0	T	73787531	C	T	73787531	3	4	22	1	0	0	0	0	1	0	0	0	8130	893	31	1	857	1	KCNQ5	6	73787531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	678834	73787531	97327536	7347	9493											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000414165.2_Intron|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L504F|KCNQ5_ENST00000370398.1_Missense_Mutation_p.L494F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L495F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L494F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L485F	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													47	232					0	0	1	0	0	T	73879480	C	T	73879480	3	4	22	1	0	0	0	0	1	0	0	0	8130	681	24	2	1583	2	KCNQ5	6	73879480	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91949	73879480	97235587	7348	9494											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000414165.2_Missense_Mutation_p.T430I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.T550I|KCNQ5_ENST00000370398.1_Missense_Mutation_p.T540I|KCNQ5_ENST00000355635.3_Missense_Mutation_p.T541I|KCNQ5_ENST00000355194.4_Missense_Mutation_p.T540I|KCNQ5_ENST00000403813.2_Missense_Mutation_p.T531I	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													24	130					0	0	1	0	0	T	73900337	C	T	73900337	3	4	22	1	0	0	0	0	1	0	0	0	8130	478	17	2	1726	2	KCNQ5	6	73900337	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20857	73900337	97214730	7349	9495											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000414165.2_Missense_Mutation_p.A589V|KCNQ5_ENST00000402622.2_Missense_Mutation_p.A709V|KCNQ5_ENST00000370398.1_Missense_Mutation_p.A699V|KCNQ5_ENST00000355635.3_Missense_Mutation_p.A700V|KCNQ5_ENST00000355194.4_Missense_Mutation_p.A699V|KCNQ5_ENST00000403813.2_Missense_Mutation_p.A690V	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													115	566					0	0	1	0	0	T	73904434	C	T	73904434	3	4	22	1	0	0	0	0	1	0	0	0	8130	739	26	2	2211	2	KCNQ5	6	73904434	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4097	73904434	97210633	7350	9496											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74104604G>A	ENST00000370363.1	-	0	212				DDX43_ENST00000370336.4_5'UTR|DDX43_ENST00000539829.1_5'UTR			A6NGQ2	OOEP_HUMAN	oocyte expressed protein							cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						CGGCAACGACGTCGGACGCGC	0.632													67	261					0	0	1	0	0	A	74104604	G	A	74104604	1	1	22	1	0	0	0	0	0	0	0	0	10918	1160	40	1		1	OOEP	6	74104604	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200170	74104604	97010463	7351	9497											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415954.2_Missense_Mutation_p.Q331H|MTO1_ENST00000370300.4_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	75	318					7.14593e-30	8.36387e-30	1	1	0	T	74189713	G	T	74189713	3	4	22	1	0	0	0	0	1	0	0	0	10001	991	35	2	1015	2	MTO1	6	74189713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85109	74189713	96925354	7352	9498											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415954.2_Silent_p.L588L|MTO1_ENST00000370300.4_Silent_p.L573L|RP11-505P4.6_ENST00000423099.1_RNA			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													44	216					0	0	1	0	0	T	74201963	C	T	74201963	2	4	22	1	0	0	0	0	0	0	0	1	10001	871	31	1		1	MTO1	6	74201963	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12250	74201963	96913104	7353	9499											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Silent_p.L248L|EEF1A1_ENST00000309268.6_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	73	306					0	0	1	0	0	T	74228449	C	T	74228449	2	4	22	1	0	0	0	0	0	0	0	1	4949	697	25	2		2	EEF1A1	6	74228449	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26486	74228449	96886618	7354	9500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	248					6.7651e-33	8.0037e-33	1	1	0	T	74325115	G	T	74325115	3	4	22	1	0	0	0	0	1	0	0	0	14475	942	33	2	469	2	SLC17A5	6	74325115	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96666	74325115	96789952	7355	9501											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422508.2_Missense_Mutation_p.G34W|CD109_ENST00000287097.5_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													71	380					1.1397e-45	1.39802e-45	1	1	0	T	74407148	G	T	74407148	3	4	22	1	0	0	0	0	1	0	0	0	2985	1000	35	2	106	2	CD109	6	74407148	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82033	74407148	96707919	7356	9502											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000287097.5_Missense_Mutation_p.T840I|CD109_ENST00000422508.2_Missense_Mutation_p.T763I	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													63	353					0	0	1	0	0	T	74497138	C	T	74497138	3	4	22	1	0	0	0	0	1	0	0	0	2985	565	20	2	2601	2	CD109	6	74497138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89990	74497138	96617929	7357	9503											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000416123.2_Silent_p.S2042S|COL12A1_ENST00000345356.6_Silent_p.S878S	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													57	275					0	0	1	0	0	T	75839891	C	T	75839891	2	4	22	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	7358	9504											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000416123.2_Silent_p.T1986T|COL12A1_ENST00000345356.6_Silent_p.T822T	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													67	329					0	0	1	0	0	T	75840677	C	T	75840677	2	4	22	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	7359	9505											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000416123.2_Missense_Mutation_p.D1816Y|COL12A1_ENST00000345356.6_Missense_Mutation_p.D652Y	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													68	275					1.34568e-36	1.61182e-36	1	1	0	A	75844520	C	A	75844520	3	1	22	1	0	0	0	0	1	0	0	0	3692	913	32	2	3885	2	COL12A1	6	75844520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3843	75844520	95270547	7360	9506											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000416123.2_Missense_Mutation_p.Q1805H|COL12A1_ENST00000345356.6_Missense_Mutation_p.Q641H	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													73	278					1.32218e-49	1.6358e-49	1	1	0	A	75844551	C	A	75844551	3	1	22	1	0	0	0	0	1	0	0	0	3692	912	32	2	3916	2	COL12A1	6	75844551	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	75844551	95270516	7361	9507											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000416123.2_Missense_Mutation_p.V257L|COL12A1_ENST00000345356.6_Intron	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													46	195					1.48734e-19	1.65976e-19	1	1	0	A	75898987	C	A	75898987	3	1	22	1	0	0	0	0	1	0	0	0	3692	565	20	2	8662	2	COL12A1	6	75898987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54436	75898987	95216080	7362	9508											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.T912M|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													77	653					0	0	1	0	0	A	76022516	G	A	76022516	3	1	22	1	0	0	0	0	1	0	0	0	5927	1145	40	1	617	1	FILIP1	6	76022516	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123529	76022516	95092551	7363	9509											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.L764F|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													119	554					0	0	1	0	0	A	76022961	G	A	76022961	3	1	22	1	0	0	0	0	1	0	0	0	5927	971	34	2	1062	2	FILIP1	6	76022961	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	445	76022961	95092106	7364	9510											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.S737N|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													190	881					0	0	1	0	0	T	76023041	C	T	76023041	3	4	22	1	0	0	0	0	1	0	0	0	5927	565	20	2	1142	2	FILIP1	6	76023041	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	76023041	95092026	7365	9511											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.A710V|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													27	911					0	0	1	0	0	A	76023122	G	A	76023122	3	1	22	1	0	0	0	0	1	0	0	0	5927	1319	46	2	1223	2	FILIP1	6	76023122	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81	76023122	95091945	7366	9512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Silent_p.G667G|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													94	552					0	0	1	0	0	T	76023250	C	T	76023250	2	4	22	1	0	0	0	0	0	0	0	1	5927	726	26	2		2	FILIP1	6	76023250	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128	76023250	95091817	7367	9513											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.A268V|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													146	713					0	0	1	0	0	A	76024448	G	A	76024448	3	1	22	1	0	0	0	0	1	0	0	0	5927	1203	42	2	2549	2	FILIP1	6	76024448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1198	76024448	95090619	7368	9514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-415D17.3_ENST00000591821.1_RNA|RP11-415D17.3_ENST00000588761.1_RNA|FILIP1_ENST00000370020.1_Missense_Mutation_p.H29Y|RP11-415D17.3_ENST00000440220.1_RNA|RP11-415D17.3_ENST00000419709.1_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													82	440					0	0	1	0	0	A	76072528	G	A	76072528	3	1	22	1	0	0	0	0	1	0	0	0	5927	1319	46	2	3275	2	FILIP1	6	76072528	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48080	76072528	95042539	7369	9515											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541192.1_Intron|SENP6_ENST00000447266.2_Missense_Mutation_p.H866Q|SENP6_ENST00000370010.2_Missense_Mutation_p.H859Q	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													139	571					0	0	1	0	0	G	76412670	T	G	76412670	3	3	22	1	0	0	0	0	1	0	0	0	14104	1403	49	3	2672	3	SENP6	6	76412670	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	340142	76412670	94702397	7370	9516											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541192.1_3'UTR|SENP6_ENST00000447266.2_Missense_Mutation_p.V988A|SENP6_ENST00000370010.2_Missense_Mutation_p.V981A	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													71	357					0	0	1	0	0	C	76423282	T	C	76423282	3	2	22	1	0	0	0	0	1	0	0	0	14104	1667	58	3	3049	3	SENP6	6	76423282	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10612	76423282	94691785	7371	9517											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	682					0	0	1	0	0	T	76623953	C	T	76623953	4	4	22	1	0	0	0	0	0	1	0	0	10129	711	25	2	3743	2	MYO6	6	76623953	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200671	76623953	94491114	7372	9518											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001563.2	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													49	235					0	0	1	0	0	C	76660430	T	C	76660430	3	2	22	1	0	0	0	0	1	0	0	0	7772	1406	49	3	740	3	IMPG1	6	76660430	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	36477	76660430	94454637	7373	9519											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001563.2	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													49	209					0	0	1	0	0	C	76660589	T	C	76660589	3	2	22	1	0	0	0	0	1	0	0	0	7772	1667	58	3	899	3	IMPG1	6	76660589	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	159	76660589	94454478	7374	9520											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	269					0	0	1	0	0	T	76744474	C	T	76744474	3	4	22	1	0	0	0	0	1	0	0	0	7772	652	23	1	2121	1	IMPG1	6	76744474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83885	76744474	94370593	7375	9521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	340					0	0	1	0	0	A	79595126	G	A	79595126	3	1	22	1	0	0	0	0	1	0	0	0	7866	1000	35	2	353	2	IRAK1BP1	6	79595126	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2850652	79595126	91519941	7376	9522											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_060404.3	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													82	365					0	0	1	0	0	G	79650542	A	G	79650542	2	3	22	1	0	0	0	0	0	0	0	1	11890	456	16	3		3	PHIP	6	79650542	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	55416	79650542	91464525	7377	9523											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_060404.3	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													85	488					2.05912e-35	2.45818e-35	1	1	0	A	79655978	C	A	79655978	5	1	22	1	0	0	0	0	0	0	1	0	11890	811	28	2	1107	2	PHIP	6	79655978	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5436	79655978	91459089	7378	9524											
PHIP	55023	broad.mit.edu	37	chr6	79657339	79657339	+	Splice_Site	DEL	C	C	-													gaaaataatgtaattatataCccttgatcttttgcttggtg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79657339delC	ENST00000275034.4	-	36	4374		c.e36+1		PHIP_ENST00000479165.1_Splice_Site	NM_017934.5	NP_060404.3	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)		TAATTATATACCCTTGATCTT	0.299													9	210	---	---	---	---						-	79657339	C	-	79657339	8	5	22	1	0	1	0	1	0	0	1	0	11890	521	18	0	1278	0	PHIP	6	79657339	Splice_Site	DEL	C	TCGA-IB-7651-01A-11D-2154-08	1361	79657339	91457728	7379	9525											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_060404.3	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													39	182					0	0	1	0	0	T	79671415	C	T	79671415	2	4	22	1	0	0	0	0	0	0	0	1	11890	506	18	2		2	PHIP	6	79671415	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14076	79671415	91443652	7380	9526											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_060404.3	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													27	157					0	0	1	0	0	T	79692681	C	T	79692681	2	4	22	1	0	0	0	0	0	0	0	1	11890	680	24	2		2	PHIP	6	79692681	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21266	79692681	91422386	7381	9527											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_060404.3	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													35	202					0	0	1	0	0	T	79724895	C	T	79724895	2	4	22	1	0	0	0	0	0	0	0	1	11890	523	19	1		1	PHIP	6	79724895	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32214	79724895	91390172	7382	9528											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	758					0	0	1	0	0	A	80197365	G	A	80197365	2	1	22	1	0	0	0	0	0	0	0	1	8695	933	33	2		2	LCA5	6	80197365	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	472470	80197365	90917702	7383	9529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467898.2_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													77	481					0	0	1	0	0	T	80198831	C	T	80198831	3	4	22	1	0	0	0	0	1	0	0	0	8695	536	19	1	900	1	LCA5	6	80198831	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1466	80198831	90916236	7384	9530											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000230510.3_Missense_Mutation_p.N326H|TTK_ENST00000369798.2_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													187	683					0	0	1	0	0	C	80723075	A	C	80723075	3	2	22	1	0	0	0	0	1	0	0	0	16782	14	1	3	1006	3	TTK	6	80723075	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	524244	80723075	90391992	7385	9531											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80912929G>T	ENST00000320393.6	+	8	998	c.951_splice	c.e8+1	p.K317_splice	BCKDHB_ENST00000356489.5_Splice_Site_p.K317_splice|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													56	301					2.93687e-30	3.44351e-30	1	1	0	T	80912929	G	T	80912929	5	4	22	1	0	0	0	0	0	0	1	0	1358	1014	35	2	981	2	BCKDHB	6	80912929	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	189854	80912929	90202138	7386	9532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000237163.5_Missense_Mutation_p.I89S|DOPEY1_ENST00000369739.3_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													210	963					0	0	1	0	0	G	83810551	T	G	83810551	3	3	22	1	0	0	0	0	1	0	0	0	4734	1493	52	3	272	3	DOPEY1	6	83810551	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2897622	83810551	87304516	7387	9533											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000237163.5_Silent_p.H1632H|DOPEY1_ENST00000369739.3_Silent_p.H1642H|DOPEY1_ENST00000484282.1_3'UTR	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													87	293					0	0	1	0	0	T	83848714	C	T	83848714	2	4	22	1	0	0	0	0	0	0	0	1	4734	564	20	2		2	DOPEY1	6	83848714	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38163	83848714	87266353	7388	9534											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000237163.5_Intron|DOPEY1_ENST00000369739.3_Missense_Mutation_p.P2202S|DOPEY1_ENST00000484282.1_3'UTR	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													80	378					0	0	1	0	0	T	83866927	C	T	83866927	3	4	22	1	0	0	0	0	1	0	0	0	4734	739	26	2	6761	2	DOPEY1	6	83866927	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18213	83866927	87248140	7389	9535											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	DOPEY1_ENST00000237163.5_Missense_Mutation_p.V2294M|PGM3_ENST00000512866.1_Intron|PGM3_ENST00000513973.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.V2401M|DOPEY1_ENST00000484282.1_3'UTR	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													43	168					0	0	1	0	0	A	83877656	G	A	83877656	3	1	22	1	0	0	0	0	1	0	0	0	4734	1145	40	1	7314	1	DOPEY1	6	83877656	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10729	83877656	87237411	7390	9536											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000512866.1_Silent_p.G373G|PGM3_ENST00000283977.4_Silent_p.G292G|PGM3_ENST00000506587.1_Silent_p.G401G	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													48	211					0	0	1	0	0	T	83885690	C	T	83885690	2	4	22	1	0	0	0	0	0	0	0	1	11848	726	26	2		2	PGM3	6	83885690	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8034	83885690	87229377	7391	9537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000283977.4_Intron|PGM3_ENST00000506587.1_Missense_Mutation_p.K43N	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													72	351					1.2582e-26	1.451e-26	1	1	0	A	83900687	C	A	83900687	3	1	22	1	0	0	0	0	1	0	0	0	11848	796	28	2	1631	2	PGM3	6	83900687	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14997	83900687	87214380	7392	9538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543031.1_Missense_Mutation_p.S332N|ME1_ENST00000541327.1_Missense_Mutation_p.S241N	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													12	244					0	0	1	0	0	T	83937109	C	T	83937109	3	4	22	1	0	0	0	0	1	0	0	0	9467	565	20	2	514	2	ME1	6	83937109	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36422	83937109	87177958	7393	9539											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543031.1_Missense_Mutation_p.A305T|ME1_ENST00000541327.1_Missense_Mutation_p.A214T	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													59	362					0	0	1	0	0	T	83937191	C	T	83937191	3	4	22	1	0	0	0	0	1	0	0	0	9467	710	25	2	596	2	ME1	6	83937191	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82	83937191	87177876	7394	9540											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	227					0	0	1	0	0	A	84234319	G	A	84234319	3	1	22	1	0	0	0	0	1	0	0	0	12673	1145	40	1	1161	1	PRSS35	6	84234319	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	297128	84234319	86880748	7395	9541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520302.1_Missense_Mutation_p.P836H|SNAP91_ENST00000437520.1_Missense_Mutation_p.P559H|SNAP91_ENST00000520213.1_Missense_Mutation_p.P559H|SNAP91_ENST00000521743.1_Missense_Mutation_p.P866H|SNAP91_ENST00000369694.2_Missense_Mutation_p.P866H|SNAP91_ENST00000439399.2_Missense_Mutation_p.P866H|SNAP91_ENST00000195649.6_Missense_Mutation_p.P861H|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													9	355					2.17888e-05	2.22852e-05	1	1	0	T	84269857	G	T	84269857	3	4	22	1	0	0	0	0	1	0	0	0	14887	1232	43	2	134	2	SNAP91	6	84269857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35538	84269857	86845210	7396	9542											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520302.1_Missense_Mutation_p.A418V|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000521743.1_Missense_Mutation_p.A420V|SNAP91_ENST00000369694.2_Missense_Mutation_p.A420V|SNAP91_ENST00000439399.2_Missense_Mutation_p.A420V|SNAP91_ENST00000195649.6_Missense_Mutation_p.A420V|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													30	120					0	0	1	0	0	A	84311055	G	A	84311055	3	1	22	1	0	0	0	0	1	0	0	0	14887	1203	42	2	1520	2	SNAP91	6	84311055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41198	84311055	86804012	7397	9543											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520302.1_Missense_Mutation_p.S2L|SNAP91_ENST00000437520.1_Missense_Mutation_p.S2L|SNAP91_ENST00000520213.1_Missense_Mutation_p.S2L|SNAP91_ENST00000521743.1_Missense_Mutation_p.S2L|SNAP91_ENST00000369694.2_Missense_Mutation_p.S2L|SNAP91_ENST00000439399.2_Missense_Mutation_p.S2L|SNAP91_ENST00000195649.6_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													60	181					0	0	1	0	0	A	84417642	G	A	84417642	3	1	22	1	0	0	0	0	1	0	0	0	14887	1059	37	1	2826	1	SNAP91	6	84417642	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106587	84417642	86697425	7398	9544											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	227					0	0	1	0	0	A	84566960	G	A	84566960	5	1	22	1	0	0	0	0	0	0	1	0	13437	956	33	2	253	2	RIPPLY2	6	84566960	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149318	84566960	86548107	7399	9545											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	364					9.4957e-49	1.17268e-48	1	1	0	A	84798871	C	A	84798871	3	1	22	1	0	0	0	0	1	0	0	0	9803	507	18	2	299	2	MRAP2	6	84798871	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	231911	84798871	86316196	7400	9546											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	337					0	0	1	0	0	A	84870536	G	A	84870536	4	1	22	1	0	0	0	0	0	1	0	0	8245	1095	38	1	1463	1	KIAA1009	6	84870536	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71665	84870536	86244531	7401	9547											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	25					0	0	1	0	0	C	84879094	T	C	84879094	3	2	22	1	0	0	0	0	1	0	0	0	8245	1617	56	3	1913	3	KIAA1009	6	84879094	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8558	84879094	86235973	7402	9548											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	45					0	0	1	0	0	A	85473690	G	A	85473690	2	1	22	1	0	0	0	0	0	0	0	1	15713	1136	40	1		1	TBX18	6	85473690	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	594596	85473690	85641377	7403	9549											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	308					0	0	1	0	0	T	86197066	A	T	86197066	3	4	22	1	0	0	0	0	1	0	0	0	10741	69	3	5	981	5	NT5E	6	86197066	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	723376	86197066	84918001	7404	9550											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000513865.1_Missense_Mutation_p.L550I|SNX14_ENST00000346348.3_Missense_Mutation_p.L778I|SNX14_ENST00000369627.2_Missense_Mutation_p.L822I|SNX14_ENST00000505648.1_Missense_Mutation_p.L779I|SNX14_ENST00000508980.1_5'UTR	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													20	315					1.01871e-10	1.082e-10	1	1	0	T	86223854	G	T	86223854	3	4	22	1	0	0	0	0	1	0	0	0	14939	942	33	2	369	2	SNX14	6	86223854	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26788	86223854	84891213	7405	9551											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000513865.1_Missense_Mutation_p.R349C|SNX14_ENST00000346348.3_Missense_Mutation_p.R305C|SNX14_ENST00000369627.2_Missense_Mutation_p.R349C|SNX14_ENST00000505648.1_Missense_Mutation_p.R297C|SNX14_ENST00000508980.1_5'UTR	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													27	173					0	0	1	0	0	A	86256893	G	A	86256893	3	1	22	1	0	0	0	0	1	0	0	0	14939	1058	37	1	1867	1	SNX14	6	86256893	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33039	86256893	84858174	7406	9552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000513865.1_Missense_Mutation_p.H242Y|SNX14_ENST00000346348.3_Missense_Mutation_p.H198Y|SNX14_ENST00000369627.2_Missense_Mutation_p.H242Y|SNX14_ENST00000505648.1_Missense_Mutation_p.H190Y|SNX14_ENST00000508980.1_5'UTR	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													63	323					0	0	1	0	0	A	86259508	G	A	86259508	3	1	22	1	0	0	0	0	1	0	0	0	14939	1319	46	2	2204	2	SNX14	6	86259508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2615	86259508	84855559	7407	9553											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	SYNCRIP_ENST00000369622.3_Nonsense_Mutation_p.G540*|RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.E75D	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													217	1007					2.79113e-73	3.55286e-73	1	1	0	A	86324728	C	A	86324728	4	1	22	1	0	0	0	0	0	1	0	0	15501	690	24	2	303	2	SYNCRIP	6	86324728	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65220	86324728	84790339	7408	9554											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	420					0	0	1	0	0	A	86346734	G	A	86346734	3	1	22	1	0	0	0	0	1	0	0	0	15501	1087	38	1	1324	1	SYNCRIP	6	86346734	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22006	86346734	84768333	7409	9555											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	662					0	0	1	0	0	C	87796039	T	C	87796039	3	2	22	1	0	0	0	0	1	0	0	0	3317	1821	63	3	156	3	CGA	6	87796039	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1449305	87796039	83319028	7410	9556											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	110					0	0	1	0	0	A	87968327	G	A	87968327	2	1	22	1	0	0	0	0	0	0	0	1	17883	933	33	2		2	ZNF292	6	87968327	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	172288	87968327	83146740	7411	9557											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	123					0	0	1	0	0	G	87968743	A	G	87968743	3	3	22	1	0	0	0	0	1	0	0	0	17883	43	2	3	5426	3	ZNF292	6	87968743	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	416	87968743	83146324	7412	9558											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	77					0	0	1	0	0	C	87970601	A	C	87970601	2	2	22	1	0	0	0	0	0	0	0	1	17883	146	6	3		3	ZNF292	6	87970601	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1858	87970601	83144466	7413	9559											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	388					0.010729	0.0107869	1	1	0	A	87994334	C	A	87994334	3	1	22	1	0	0	0	0	1	0	0	0	6455	680	24	2	378	2	GJB7	6	87994334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23733	87994334	83120733	7414	9560											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	336					0	0	1	0	0	A	88119631	G	A	88119631	3	1	22	1	0	0	0	0	1	0	0	0	2355	1174	41	2	76	2	C6orf165	6	88119631	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125297	88119631	82995436	7415	9561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	264					4.1673e-28	4.84001e-28	1	1	0	A	88229394	C	A	88229394	4	1	22	1	0	0	0	0	0	1	0	0	13111	632	22	2	620	2	RARS2	6	88229394	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109763	88229394	82885673	7416	9562											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	397					0	0	1	0	0	C	88240541	A	C	88240541	3	2	22	1	0	0	0	0	1	0	0	0	13111	243	9	3	1052	3	RARS2	6	88240541	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11147	88240541	82874526	7417	9563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	205					0	0	1	0	0	C	88240658	A	C	88240658	2	2	22	1	0	0	0	0	0	0	0	1	13111	1	1	3		3	RARS2	6	88240658	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	117	88240658	82874409	7418	9564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	180					0	0	1	0	0	C	88272489	T	C	88272489	2	2	22	1	0	0	0	0	0	0	0	1	13111	1567	55	3		3	RARS2	6	88272489	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31831	88272489	82842578	7419	9565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	147					0	0	1	0	0	A	88763711	G	A	88763711	3	1	22	1	0	0	0	0	1	0	0	0	15026	1145	40	1	262	1	SPACA1	6	88763711	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	491222	88763711	82351356	7420	9566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	224					0	0	1	0	0	A	88768475	G	A	88768475	3	1	22	1	0	0	0	0	1	0	0	0	15026	1203	42	2	423	2	SPACA1	6	88768475	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4764	88768475	82346592	7421	9567											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000549716.1_Silent_p.S368S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Silent_p.S429S|CNR1_ENST00000535130.1_Silent_p.S429S|CNR1_ENST00000369501.2_Silent_p.S429S|CNR1_ENST00000428600.2_Silent_p.S429S|CNR1_ENST00000468898.1_Silent_p.S396S|CNR1_ENST00000549890.1_Silent_p.S429S	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													13	804					0	0	1	0	0	T	88853707	C	T	88853707	2	4	22	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	7422	9568											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			66	290					0	0	1	0	0	T	89790706	C	T	89790706	2	4	22	1	0	0	0	0	0	0	0	1	12222	610	22	2		2	PNRC1	6	89790706	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	936999	89790706	81324361	7423	9569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	423					0	0	1	0	0	A	89868116	G	A	89868116	3	1	22	1	0	0	0	0	1	0	0	0	12177	1175	41	2	1003	2	PM20D2	6	89868116	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77410	89868116	81246951	7424	9570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	127					2.26627e-22	2.56399e-22	1	1	0	A	90053428	C	A	90053428	3	1	22	1	0	0	0	0	1	0	0	0	16921	913	32	2	905	2	UBE2J1	6	90053428	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	185312	90053428	81061639	7425	9571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.2_Intron	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													153	696					1.01079e-59	1.26995e-59	1	1	0	A	90097100	C	A	90097100	4	1	22	1	0	0	0	0	0	1	0	0	13727	690	24	2	868	2	RRAGD	6	90097100	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43672	90097100	81017967	7426	9572											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	192					4.22769e-11	4.50498e-11	1	1	0	T	90390433	G	T	90390433	3	4	22	1	0	0	0	0	1	0	0	0	9465	1174	41	2	4766	2	MDN1	6	90390433	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	293333	90390433	80724634	7427	9573											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	253					0	0	1	0	0	A	90402593	G	A	90402593	2	1	22	1	0	0	0	0	0	0	0	1	9465	962	34	2		2	MDN1	6	90402593	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12160	90402593	80712474	7428	9574											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	166					0	0	1	0	0	G	90406082	A	G	90406082	3	3	22	1	0	0	0	0	1	0	0	0	9465	246	9	3	7582	3	MDN1	6	90406082	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3489	90406082	80708985	7429	9575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	198					0	0	1	0	0	C	90406269	T	C	90406269	3	2	22	1	0	0	0	0	1	0	0	0	9465	1464	51	3	7769	3	MDN1	6	90406269	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	187	90406269	80708798	7430	9576											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	214					1.47197e-15	1.61021e-15	1	1	0	T	90411377	G	T	90411377	3	4	22	1	0	0	0	0	1	0	0	0	9465	1029	36	2	8655	2	MDN1	6	90411377	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5108	90411377	80703690	7431	9577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	256					0	0	1	0	0	T	90417165	C	T	90417165	2	4	22	1	0	0	0	0	0	0	0	1	9465	610	22	2		2	MDN1	6	90417165	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5788	90417165	80697902	7432	9578											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	365					0	0	1	0	0	A	90455062	G	A	90455062	3	1	22	1	0	0	0	0	1	0	0	0	9465	1086	38	1	12978	1	MDN1	6	90455062	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37897	90455062	80660005	7433	9579											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	385					3.05217e-42	3.71447e-42	1	1	0	A	90463282	C	A	90463282	3	1	22	1	0	0	0	0	1	0	0	0	9465	796	28	2	14090	2	MDN1	6	90463282	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8220	90463282	80651785	7434	9580											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	309					0	0	1	0	0	G	90463339	A	G	90463339	2	3	22	1	0	0	0	0	0	0	0	1	9465	30	2	3		3	MDN1	6	90463339	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	57	90463339	80651728	7435	9581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	937					0	0	1	0	0	A	90494754	G	A	90494754	2	1	22	1	0	0	0	0	0	0	0	1	9465	991	35	2		2	MDN1	6	90494754	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31415	90494754	80620313	7436	9582											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	265					2.165e-29	2.52906e-29	1	1	0	A	90504402	C	A	90504402	4	1	22	1	0	0	0	0	0	1	0	0	9465	864	30	2	16742	2	MDN1	6	90504402	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9648	90504402	80610665	7437	9583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													124	629					0	0	1	0	0	T	90513085	C	T	90513085	2	4	22	1	0	0	0	0	0	0	0	1	9465	871	31	1		1	MDN1	6	90513085	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8683	90513085	80601982	7438	9584											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	40					0	0	1	0	0	A	90573238	G	A	90573238	1	1	22	0	1	0	0	0	0	0	0	0	2696	1203	42	2		2	CASP8AP2	6	90573238	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60153	90573238	80541829	7439	9585											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	188					3.61848e-18	4.01023e-18	1	1	0	T	90576760	G	T	90576760	1	4	22	0	1	0	0	0	0	0	0	0	2696	943	33	2		2	CASP8AP2	6	90576760	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3522	90576760	80538307	7440	9586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	210					0	0	1	0	0	T	90578207	C	T	90578207	1	4	22	0	1	0	0	0	0	0	0	0	2696	565	20	2		2	CASP8AP2	6	90578207	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1447	90578207	80536860	7441	9587											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	121					0	0	1	0	0	C	90578293	T	C	90578293	1	2	22	0	1	0	0	0	0	0	0	0	2696	1606	56	3		3	CASP8AP2	6	90578293	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	86	90578293	80536774	7442	9588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	384					0	0	1	0	0	G	90647962	A	G	90647962	2	3	22	1	0	0	0	0	0	0	0	1	1282	214	8	3		3	BACH2	6	90647962	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69669	90647962	80467105	7443	9589											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369320.1_Intron|MAP3K7_ENST00000369325.3_Missense_Mutation_p.R410Q|MAP3K7_ENST00000369327.3_Intron|MAP3K7_ENST00000369332.3_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													13	308					0	0	1	0	0	T	91254333	C	T	91254333	3	4	22	1	0	0	0	0	1	0	0	0	9305	652	23	1	615	1	MAP3K7	6	91254333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	606371	91254333	79860734	7444	9590											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													131	505					0	0	1	0	0	A	93967929	G	A	93967929	2	1	22	1	0	0	0	0	0	0	0	1	5200	1219	43	2		2	EPHA7	6	93967929	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2713596	93967929	77147138	7445	9591											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	152					0	0	1	0	0	T	94124474	C	T	94124474	3	4	22	1	0	0	0	0	1	0	0	0	5200	855	30	2	2951	2	EPHA7	6	94124474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	156545	94124474	76990593	7446	9592											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544166.1_Intron|KLHL32_ENST00000536676.1_Missense_Mutation_p.R338H|KLHL32_ENST00000539200.1_Missense_Mutation_p.R305H	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													31	166					0	0	1	0	0	A	97562152	G	A	97562152	3	1	22	1	0	0	0	0	1	0	0	0	8429	1087	38	1	1143	1	KLHL32	6	97562152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3437678	97562152	73552915	7447	9593											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544166.1_Missense_Mutation_p.D59N|KLHL32_ENST00000536676.1_Missense_Mutation_p.D467N|KLHL32_ENST00000539200.1_Missense_Mutation_p.D434N	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													49	521					0	0	1	0	0	A	97578726	G	A	97578726	3	1	22	1	0	0	0	0	1	0	0	0	8429	1290	45	2	1537	2	KLHL32	6	97578726	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16574	97578726	73536341	7448	9594											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	412					8.16569e-41	9.9098e-41	1	1	0	T	99283976	G	T	99283976	3	4	22	1	0	0	0	0	1	0	0	0	12321	933	33	2	1229	2	POU3F2	6	99283976	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1705250	99283976	71831091	7449	9595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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													13	623					0	0	1	0	0	C	99347191	T	C	99347191	3	2	22	1	0	0	0	0	1	0	0	0	5754	1821	63	3	611	3	FBXL4	6	99347191	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63215	99347191	71767876	7450	9596											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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													109	507					0	0	1	0	0	C	99347219	T	C	99347219	2	2	22	1	0	0	0	0	0	0	0	1	5754	1625	57	3		3	FBXL4	6	99347219	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28	99347219	71767848	7451	9597											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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													18	555					0	0	1	0	0	T	99374837	C	T	99374837	3	4	22	1	0	0	0	0	1	0	0	0	5754	565	20	2	1865	2	FBXL4	6	99374837	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27618	99374837	71740230	7452	9598											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392738.2_Missense_Mutation_p.A455V|USP45_ENST00000500704.2_Missense_Mutation_p.A775V|USP45_ENST00000539675.1_Missense_Mutation_p.A68V|USP45_ENST00000369233.2_Missense_Mutation_p.A727V	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													72	292					0	0	1	0	0	A	99883713	G	A	99883713	3	1	22	1	0	0	0	0	1	0	0	0	17136	1087	38	1	124	1	USP45	6	99883713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	508876	99883713	71231354	7453	9599											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392738.2_Silent_p.C268C|USP45_ENST00000500704.2_Silent_p.C588C|USP45_ENST00000539675.1_Intron|USP45_ENST00000369233.2_Silent_p.C540C	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													66	228					0	0	1	0	0	G	99893884	A	G	99893884	2	3	22	1	0	0	0	0	0	0	0	1	17136	41	2	3		3	USP45	6	99893884	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10171	99893884	71221183	7454	9600											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100055036G>A	ENST00000369214.1	+	1	387	c.126G>A	c.(124-126)gaG>gaA	p.E42E	PRDM13_ENST00000369215.4_Silent_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													61	353					0	0	1	0	0	A	100055036	G	A	100055036	2	1	22	1	0	0	0	0	0	0	0	1	12506	962	34	2		2	PRDM13	6	100055036	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161152	100055036	71060031	7455	9601											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100057116G>T	ENST00000369214.1	+	3	621	c.360G>T	c.(358-360)tgG>tgT	p.W120C	PRDM13_ENST00000369215.4_Missense_Mutation_p.W110C	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	110					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													6	168					4.096e-09	4.30383e-09	1	1	0	T	100057116	G	T	100057116	3	4	22	1	0	0	0	0	1	0	0	0	12506	1270	44	2	340	2	PRDM13	6	100057116	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2080	100057116	71057951	7456	9602											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100062174G>T	ENST00000369214.1	+	4	1954	c.1693G>T	c.(1693-1695)Ggc>Tgc	p.G565C	PRDM13_ENST00000369215.4_Missense_Mutation_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													12	106					5.16669e-11	5.49905e-11	1	1	0	T	100062174	G	T	100062174	3	4	22	1	0	0	0	0	1	0	0	0	12506	1000	35	2	1677	2	PRDM13	6	100062174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5058	100062174	71052893	7457	9603											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369212.1_Missense_Mutation_p.A119T|MCHR2_ENST00000445970.1_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													141	748					0	0	1	0	0	T	100395675	C	T	100395675	3	4	22	1	0	0	0	0	1	0	0	0	9433	710	25	2	683	2	MCHR2	6	100395675	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	333501	100395675	70719392	7458	9604											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	130					0	0	1	0	0	T	100897277	C	T	100897277	3	4	22	1	0	0	0	0	1	0	0	0	14378	739	26	2	1823	2	SIM1	6	100897277	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	501602	100897277	70217790	7459	9605											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	230					0	0	1	0	0	A	101054895	G	A	101054895	3	1	22	1	0	0	0	0	1	0	0	0	1032	1319	46	2	1801	2	ASCC3	6	101054895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157618	101054895	70060172	7460	9606											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	242					0	0	1	0	0	C	101075801	T	C	101075801	3	2	22	1	0	0	0	0	1	0	0	0	1032	1696	59	3	2230	3	ASCC3	6	101075801	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20906	101075801	70039266	7461	9607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	496					0	0	1	0	0	C	101215160	T	C	101215160	3	2	22	1	0	0	0	0	1	0	0	0	1032	1551	54	3	5287	3	ASCC3	6	101215160	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	139359	101215160	69899907	7462	9608											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000421544.1_Missense_Mutation_p.L156I|GRIK2_ENST00000413795.1_Missense_Mutation_p.L156I|GRIK2_ENST00000358361.3_Missense_Mutation_p.L156I|GRIK2_ENST00000369134.4_Missense_Mutation_p.L107I|GRIK2_ENST00000318991.6_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													75	355					3.00167e-28	3.48911e-28	1	1	0	A	102074437	C	A	102074437	3	1	22	1	0	0	0	0	1	0	0	0	6815	565	20	2	476	2	GRIK2	6	102074437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	859277	102074437	69040630	7463	9609											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000421544.1_Silent_p.T437T|GRIK2_ENST00000413795.1_Silent_p.T437T|GRIK2_ENST00000369134.4_Silent_p.T388T|GRIK2_ENST00000318991.6_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													27	122					1.17739e-12	1.26592e-12	1	1	0	A	102266352	C	A	102266352	2	1	22	1	0	0	0	0	0	0	0	1	6815	581	21	2		2	GRIK2	6	102266352	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191915	102266352	68848715	7464	9610											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000421544.1_Missense_Mutation_p.A684V|GRIK2_ENST00000413795.1_Missense_Mutation_p.A684V|GRIK2_ENST00000369134.4_Missense_Mutation_p.A635V|GRIK2_ENST00000318991.6_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													38	221					0	0	1	0	0	T	102376473	C	T	102376473	3	4	22	1	0	0	0	0	1	0	0	0	6815	710	25	2	2101	2	GRIK2	6	102376473	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110121	102376473	68738594	7465	9611											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	105					0	0	1	0	0	G	105198220	T	G	105198220	3	3	22	1	0	0	0	0	1	0	0	0	6981	1783	62	3	410	3	HACE1	6	105198220	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2821747	105198220	65916847	7466	9612											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105198346G>A	ENST00000262903.4	-	20	2489	c.2211_splice	c.e20-1	p.A738_splice	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Splice_Site_p.A523_splice	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													36	144					0	0	1	0	0	A	105198346	G	A	105198346	5	1	22	1	0	0	0	0	0	0	1	0	6981	1101	38	1	536	1	HACE1	6	105198346	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126	105198346	65916721	7467	9613											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	274					0	0	1	0	0	A	105549001	G	A	105549001	3	1	22	1	0	0	0	0	1	0	0	0	1578	1319	46	2	40	2	BVES	6	105549001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	350655	105549001	65566066	7468	9614											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													200	857					0	0	1	0	0	A	105726037	G	A	105726037	2	1	22	1	0	0	0	0	0	0	0	1	12526	1136	40	1		1	PREP	6	105726037	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177036	105726037	65389030	7469	9615											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369091.2_Missense_Mutation_p.N519S|PRDM1_ENST00000369089.3_Missense_Mutation_p.N421S	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								60	299					0	0	1	0	0	G	106553699	A	G	106553699	3	3	22	1	0	0	0	0	1	0	0	0	12502	43	2	3	1695	3	PRDM1	6	106553699	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	827662	106553699	64561368	7470	9616											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369091.2_Missense_Mutation_p.P629L|PRDM1_ENST00000369089.3_Missense_Mutation_p.P531L	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								152	646					0	0	1	0	0	T	106554877	C	T	106554877	3	4	22	1	0	0	0	0	1	0	0	0	12502	681	24	2	2033	2	PRDM1	6	106554877	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1178	106554877	64560190	7471	9617											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001615.1	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													83	349					0	0	1	0	0	C	106967596	T	C	106967596	3	2	22	1	0	0	0	0	1	0	0	0	427	1435	50	3	1295	3	AIM1	6	106967596	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	412719	106967596	64147471	7472	9618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001615.1	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													83	317					0	0	1	0	0	A	106968895	G	A	106968895	3	1	22	1	0	0	0	0	1	0	0	0	427	1029	36	2	2594	2	AIM1	6	106968895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1299	106968895	64146172	7473	9619											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	234					2.24722e-20	2.51766e-20	1	1	0	T	107390904	G	T	107390904	3	4	22	1	0	0	0	0	1	0	0	0	1397	1020	36	2	999	2	BEND3	6	107390904	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	422009	107390904	63724163	7474	9620											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													160	625					2.01345e-68	2.55314e-68	1	1	0	T	107854756	G	T	107854756	3	4	22	1	0	0	0	0	1	0	0	0	14966	971	34	2	529	2	SOBP	6	107854756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	463852	107854756	63260311	7475	9621											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	134					0	0	1	0	0	A	107955419	G	A	107955419	2	1	22	1	0	0	0	0	0	0	0	1	14966	1074	38	1		1	SOBP	6	107955419	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100663	107955419	63159648	7476	9622											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	69					0	0	1	0	0	T	107955830	C	T	107955830	2	4	22	1	0	0	0	0	0	0	0	1	14966	639	23	1		1	SOBP	6	107955830	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	411	107955830	63159237	7477	9623											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	327					2.32078e-09	2.442e-09	1	1	0	T	107956367	G	T	107956367	3	4	22	1	0	0	0	0	1	0	0	0	14966	933	33	2	2341	2	SOBP	6	107956367	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	537	107956367	63158700	7478	9624											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	695					0	0	1	0	0	T	107956512	C	T	107956512	3	4	22	1	0	0	0	0	1	0	0	0	14966	739	26	2	2486	2	SOBP	6	107956512	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145	107956512	63158555	7479	9625											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	477					0	0	1	0	0	T	108227665	C	T	108227665	2	4	22	1	0	0	0	0	0	0	0	1	14059	912	32	2		2	SEC63	6	108227665	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271153	108227665	62887402	7480	9626											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108496126C>T	ENST00000368986.4	+	3	966	c.259_splice	c.e3+1	p.D86_splice	NR2E1_ENST00000368983.3_Splice_Site_p.D123_splice	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													43	209					0	0	1	0	0	T	108496126	C	T	108496126	5	4	22	1	0	0	0	0	0	0	1	0	10673	550	19	1	268	1	NR2E1	6	108496126	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	268461	108496126	62618941	7481	9627											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368983.3_Missense_Mutation_p.M212I|NR2E1_ENST00000484978.1_3'UTR	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													59	297					0	0	1	0	0	A	108499328	G	A	108499328	3	1	22	1	0	0	0	0	1	0	0	0	10673	1377	48	2	543	2	NR2E1	6	108499328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3202	108499328	62615739	7482	9628											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000349379.5_Missense_Mutation_p.P69L|SNX3_ENST00000426155.2_Missense_Mutation_p.P59L	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													6	182					0	0	1	0	0	A	108535813	G	A	108535813	3	1	22	1	0	0	0	0	1	0	0	0	14953	1116	39	1	224	1	SNX3	6	108535813	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36485	108535813	62579254	7483	9629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	337					4.34595e-34	5.16371e-34	1	1	0	T	108645053	G	T	108645053	3	4	22	1	0	0	0	0	1	0	0	0	8634	971	34	2	170	2	LACE1	6	108645053	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109240	108645053	62470014	7484	9630											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	115					0	0	1	0	0	T	108687502	C	T	108687502	2	4	22	1	0	0	0	0	0	0	0	1	8634	871	31	1		1	LACE1	6	108687502	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42449	108687502	62427565	7485	9631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108840900G>A	ENST00000368977.4	+	12	1390	c.1203_splice	c.e12-1	p.V402_splice		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													58	301					0	0	1	0	0	A	108840900	G	A	108840900	5	1	22	1	0	0	0	0	0	0	1	0	8634	1275	44	2	1250	2	LACE1	6	108840900	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153398	108840900	62274167	7486	9632											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343882.6_Missense_Mutation_p.S209F|FOXO3_ENST00000540898.1_5'UTR	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													64	316					0	0	1	0	0	T	108984662	C	T	108984662	3	4	22	1	0	0	0	0	1	0	0	0	6058	855	30	2	632	2	FOXO3	6	108984662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143762	108984662	62130405	7487	9633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343882.6_Missense_Mutation_p.R298C|FOXO3_ENST00000540898.1_Missense_Mutation_p.R78C	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													28	122					0	0	1	0	0	T	108984928	C	T	108984928	3	4	22	1	0	0	0	0	1	0	0	0	6058	536	19	1	898	1	FOXO3	6	108984928	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	266	108984928	62130139	7488	9634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343882.6_Missense_Mutation_p.L423M|FOXO3_ENST00000540898.1_Missense_Mutation_p.L203M	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													83	476					1.5608e-48	1.92705e-48	1	1	0	A	108985303	C	A	108985303	3	1	22	1	0	0	0	0	1	0	0	0	6058	680	24	2	1273	2	FOXO3	6	108985303	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	375	108985303	62129764	7489	9635											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	100					0	0	1	0	0	A	109220981	G	A	109220981	3	1	22	1	0	0	0	0	1	0	0	0	950	1145	40	1	855	1	ARMC2	6	109220981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	235678	109220981	61894086	7490	9636											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	260					7.16444e-05	7.29775e-05	1	1	0	A	109225603	C	A	109225603	3	1	22	1	0	0	0	0	1	0	0	0	950	912	32	2	1044	2	ARMC2	6	109225603	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4622	109225603	61889464	7491	9637											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	103					0	0	1	0	0	T	109274296	C	T	109274296	3	4	22	1	0	0	0	0	1	0	0	0	950	884	31	1	1703	1	ARMC2	6	109274296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48693	109274296	61840771	7492	9638											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481850.1_3'UTR|ARMC2_ENST00000368972.3_Silent_p.Q550Q	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													16	65					0	0	1	0	0	A	109283323	G	A	109283323	2	1	22	1	0	0	0	0	0	0	0	1	950	933	33	2		2	ARMC2	6	109283323	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9027	109283323	61831744	7493	9639											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358807.3_Silent_p.A1046A|MICAL1_ENST00000358577.3_Silent_p.A960A			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													41	220					0	0	1	0	0	A	109765460	G	A	109765460	2	1	22	1	0	0	0	0	0	0	0	1	9617	1219	43	2		2	MICAL1	6	109765460	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	482137	109765460	61349607	7494	9640											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358807.3_Silent_p.T726T|MICAL1_ENST00000358577.3_Silent_p.T640T			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													51	363					2.84144e-21	3.19776e-21	1	1	0	T	109768325	G	T	109768325	2	4	22	1	0	0	0	0	0	0	0	1	9617	987	35	2		2	MICAL1	6	109768325	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2865	109768325	61346742	7495	9641											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358807.3_Silent_p.L710L|MICAL1_ENST00000358577.3_Silent_p.L624L			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													81	500					2.18481e-45	2.67909e-45	1	1	0	T	109768373	G	T	109768373	2	4	22	1	0	0	0	0	0	0	0	1	9617	929	33	2		2	MICAL1	6	109768373	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	109768373	61346694	7496	9642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358807.3_Silent_p.T667T|MICAL1_ENST00000358577.3_Silent_p.T581T			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													17	232					0	0	1	0	0	A	109768629	G	A	109768629	2	1	22	1	0	0	0	0	0	0	0	1	9617	1219	43	2		2	MICAL1	6	109768629	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	256	109768629	61346438	7497	9643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358807.3_Missense_Mutation_p.L22M|MICAL1_ENST00000358577.3_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													35	126					9.78485e-24	1.11444e-23	1	1	0	T	109775336	G	T	109775336	3	4	22	1	0	0	0	0	1	0	0	0	9617	962	34	2	3235	2	MICAL1	6	109775336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6707	109775336	61339731	7498	9644											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	477					0	0	1	0	0	C	110107619	A	C	110107619	3	2	22	1	0	0	0	0	1	0	0	0	5921	333	12	3	2133	3	FIG4	6	110107619	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	332283	110107619	61007448	7499	9645											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	204					3.05275e-18	3.38534e-18	1	1	0	A	110300884	C	A	110300884	3	1	22	1	0	0	0	0	1	0	0	0	6741	739	26	2	571	2	GPR6	6	110300884	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193265	110300884	60814183	7500	9646											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392588.1_Missense_Mutation_p.A403T|WASF1_ENST00000392587.2_Missense_Mutation_p.A403T|WASF1_ENST00000359451.2_Missense_Mutation_p.A403T|WASF1_ENST00000392586.1_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													58	238					0	0	1	0	0	T	110423106	C	T	110423106	3	4	22	1	0	0	0	0	1	0	0	0	17312	797	28	2	480	2	WASF1	6	110423106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122222	110423106	60691961	7501	9647											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368925.1_Silent_p.T59T|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													45	181					0	0	1	0	0	C	110729641	T	C	110729641	2	2	22	1	0	0	0	0	0	0	0	1	4357	1683	59	3		3	DDO	6	110729641	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	306535	110729641	60385426	7502	9648											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368925.1_Missense_Mutation_p.G12C|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													140	760					1.26214e-75	1.60976e-75	1	1	0	A	110734632	C	A	110734632	3	1	22	1	0	0	0	0	1	0	0	0	4357	681	24	2	1007	2	DDO	6	110734632	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4991	110734632	60380435	7503	9649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111213405T>C	ENST00000368885.3	+	5	805	c.470_splice	c.e5+1	p.W157_splice	AMD1_ENST00000368876.1_Splice_Site_p.W88_splice|AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368882.3_Splice_Site_p.W9_splice|AMD1_ENST00000368877.5_Splice_Site_p.W128_splice	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													185	754					0	0	1	0	0	C	111213405	T	C	111213405	5	2	22	1	0	0	0	0	0	0	1	0	562	1826	63	3	487	3	AMD1	6	111213405	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	478773	111213405	59901662	7504	9650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	61					0	0	1	0	0	C	111310254	T	C	111310254	2	2	22	1	0	0	0	0	0	0	0	1	13599	1683	59	3		3	RPF2	6	111310254	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96849	111310254	59804813	7505	9651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													141	617					5.71173e-70	7.25183e-70	1	1	0	A	111493992	C	A	111493992	2	1	22	1	0	0	0	0	0	0	0	1	14458	871	31	4		4	SLC16A10	6	111493992	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	183738	111493992	59621075	7506	9652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													165	697					0	0	1	0	0	C	111583508	A	C	111583508	3	2	22	1	0	0	0	0	1	0	0	0	8304	14	1	3	82	3	KIAA1919	6	111583508	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	89516	111583508	59531559	7507	9653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000462119.1_5'UTR|REV3L_ENST00000358835.3_Silent_p.L3117L|REV3L_ENST00000368805.1_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)					99	441					0	0	1	0	0	T	111621261	C	T	111621261	2	4	22	1	0	0	0	0	0	0	0	1	13292	477	17	2		2	REV3L	6	111621261	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37753	111621261	59493806	7508	9654											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358835.3_Silent_p.Q2362Q|REV3L_ENST00000368805.1_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)					63	307					0	0	1	0	0	T	111678315	C	T	111678315	2	4	22	1	0	0	0	0	0	0	0	1	13292	912	32	2		2	REV3L	6	111678315	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57054	111678315	59436752	7509	9655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358835.3_Missense_Mutation_p.A1875D|REV3L_ENST00000368805.1_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)					157	709					5.74082e-73	7.30534e-73	1	1	0	T	111693934	G	T	111693934	3	4	22	1	0	0	0	0	1	0	0	0	13292	971	34	2	3848	2	REV3L	6	111693934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15619	111693934	59421133	7510	9656											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358835.3_Missense_Mutation_p.R1494W|REV3L_ENST00000368805.1_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)					132	597					0	0	1	0	0	A	111695078	T	A	111695078	3	1	22	1	0	0	0	0	1	0	0	0	13292	1550	54	5	4992	5	REV3L	6	111695078	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1144	111695078	59419989	7511	9657											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358835.3_Missense_Mutation_p.K299Q|REV3L_ENST00000368805.1_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)					46	198					0	0	1	0	0	G	111709256	T	G	111709256	3	3	22	1	0	0	0	0	1	0	0	0	13292	1850	64	3	8597	3	REV3L	6	111709256	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14178	111709256	59405811	7512	9658											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368663.3_Missense_Mutation_p.K36N|WISP3_ENST00000368666.2_Missense_Mutation_p.K58N|WISP3_ENST00000230529.5_Missense_Mutation_p.K58N			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													77	342					1.88935e-48	2.3319e-48	1	1	0	T	112382319	G	T	112382319	3	4	22	1	0	0	0	0	1	0	0	0	17434	962	34	2	234	2	WISP3	6	112382319	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	673063	112382319	58732748	7513	9659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	348					0	0	1	0	0	A	112397143	G	A	112397143	3	1	22	1	0	0	0	0	1	0	0	0	16825	1145	40	1	638	1	TUBE1	6	112397143	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14824	112397143	58717924	7514	9660											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424408.2_Missense_Mutation_p.A1577V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A1577V|LAMA4_ENST00000389463.4_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													99	408					0	0	1	0	0	A	112440429	G	A	112440429	3	1	22	1	0	0	0	0	1	0	0	0	8647	971	34	2	744	2	LAMA4	6	112440429	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43286	112440429	58674638	7515	9661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424408.2_Missense_Mutation_p.V1216A|LAMA4_ENST00000522006.1_Missense_Mutation_p.V1216A|LAMA4_ENST00000389463.4_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													93	551					0	0	1	0	0	G	112454579	A	G	112454579	3	3	22	1	0	0	0	0	1	0	0	0	8647	43	2	3	1855	3	LAMA4	6	112454579	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14150	112454579	58660488	7516	9662											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000424408.2_Nonsense_Mutation_p.R643*|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000522006.1_Nonsense_Mutation_p.R643*|RP1-142L7.5_ENST00000588689.1_RNA|LAMA4_ENST00000389463.4_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													93	378					0	0	1	0	0	A	112476778	G	A	112476778	4	1	22	1	0	0	0	0	0	1	0	0	8647	1124	39	1	3623	1	LAMA4	6	112476778	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22199	112476778	58638289	7517	9663											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000424408.2_Silent_p.V580V|LAMA4_ENST00000522006.1_Silent_p.V580V|LAMA4_ENST00000389463.4_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													18	353					0	0	1	0	0	A	112479990	G	A	112479990	2	1	22	1	0	0	0	0	0	0	0	1	8647	1161	41	2		2	LAMA4	6	112479990	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3212	112479990	58635077	7518	9664											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000424408.2_Silent_p.N571N|LAMA4_ENST00000522006.1_Silent_p.N571N|LAMA4_ENST00000389463.4_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													75	270					0	0	1	0	0	A	112480017	G	A	112480017	2	1	22	1	0	0	0	0	0	0	0	1	8647	1252	44	2		2	LAMA4	6	112480017	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27	112480017	58635050	7519	9665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	291					0	0	1	0	0	T	112671386	C	T	112671386	3	4	22	1	0	0	0	0	1	0	0	0	13308	855	30	2	478	2	RFPL4B	6	112671386	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191369	112671386	58443681	7520	9666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	463					0	0	1	0	0	G	116381319	A	G	116381319	2	3	22	1	0	0	0	0	0	0	0	1	6083	98	4	3		3	FRK	6	116381319	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3709933	116381319	54733748	7521	9667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	163					0	0	1	0	0	C	116439102	T	C	116439102	3	2	22	1	0	0	0	0	1	0	0	0	10738	1841	64	3	545	3	NT5DC1	6	116439102	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	57783	116439102	54675965	7522	9668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	628					2.0833e-19	2.32388e-19	1	1	0	T	116441246	G	T	116441246	3	4	22	1	0	0	0	0	1	0	0	0	3689	971	34	2	13	2	COL10A1	6	116441246	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2144	116441246	54673821	7523	9669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	204					0	0	1	0	0	G	116442730	A	G	116442730	2	3	22	1	0	0	0	0	0	0	0	1	3689	378	14	3		3	COL10A1	6	116442730	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1484	116442730	54672337	7524	9670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	191					2.27731e-05	2.32891e-05	1	1	0	T	116579730	G	T	116579730	3	4	22	1	0	0	0	0	1	0	0	0	4800	986	34	2		2	DSE	6	116579730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137000	116579730	54535337	7525	9671											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	348					0	0	1	0	0	A	116600781	G	A	116600781	2	1	22	1	0	0	0	0	0	0	0	1	16720	1219	43	2		2	TSPYL1	6	116600781	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21051	116600781	54514286	7526	9672											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540275.1_3'UTR|DSE_ENST00000452085.3_Missense_Mutation_p.R97H|DSE_ENST00000359564.2_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													44	238					0	0	1	0	0	A	116720703	G	A	116720703	3	1	22	1	0	0	0	0	1	0	0	0	4800	1087	38	1	292	1	DSE	6	116720703	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119922	116720703	54394364	7527	9673											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000452085.3_Silent_p.S154S|DSE_ENST00000359564.2_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													91	397					0	0	1	0	0	T	116747782	C	T	116747782	2	4	22	1	0	0	0	0	0	0	0	1	4800	610	22	2		2	DSE	6	116747782	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27079	116747782	54367285	7528	9674											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000452085.3_Silent_p.Y193Y|DSE_ENST00000359564.2_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													101	388					0	0	1	0	0	T	116747899	C	T	116747899	2	4	22	1	0	0	0	0	0	0	0	1	4800	489	17	2		2	DSE	6	116747899	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117	116747899	54367168	7529	9675											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000452085.3_Missense_Mutation_p.A714D|DSE_ENST00000359564.2_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													78	438					8.50452e-49	1.05053e-48	1	1	0	A	116757772	C	A	116757772	3	1	22	1	0	0	0	0	1	0	0	0	4800	797	28	2	2159	2	DSE	6	116757772	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9873	116757772	54357295	7530	9676											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368597.2_Missense_Mutation_p.L57P|FAM26D_ENST00000405399.1_Missense_Mutation_p.L100P|FAM26D_ENST00000416171.2_Missense_Mutation_p.L99P			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													52	510					0	0	1	0	0	C	116879157	T	C	116879157	3	2	22	1	0	0	0	0	1	0	0	0	5585	1551	54	3	172	3	FAM26D	6	116879157	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	121385	116879157	54235910	7531	9677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368580.4_Nonsense_Mutation_p.Q212*|RSPH4A_ENST00000368581.4_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				133	554					0	0	1	0	0	T	116938420	C	T	116938420	4	4	22	1	0	0	0	0	0	1	0	0	13758	827	29	2	636	2	RSPH4A	6	116938420	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59263	116938420	54176647	7532	9678											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.R439K	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				65	328					0	0	1	0	0	A	116949186	G	A	116949186	3	1	22	1	0	0	0	0	1	0	0	0	13758	942	33	2	1326	2	RSPH4A	6	116949186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10766	116949186	54165881	7533	9679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	352					1.07941e-43	1.31874e-43	1	1	0	T	116968670	G	T	116968670	3	4	22	1	0	0	0	0	1	0	0	0	18286	1174	41	2	328	2	ZUFSP	6	116968670	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19484	116968670	54146397	7534	9680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000471919.1_Intron|ZUFSP_ENST00000368573.1_Missense_Mutation_p.P15T	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													79	378					2.05912e-35	2.45818e-35	1	1	0	T	116988313	G	T	116988313	3	4	22	1	0	0	0	0	1	0	0	0	18286	1261	44	2	1729	2	ZUFSP	6	116988313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19643	116988313	54126754	7535	9681											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117037383T>C	ENST00000368564.1	+	8	806	c.656_splice	c.e8-1	p.L220_splice	KPNA5_ENST00000356348.1_Splice_Site_p.L220_splice			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													49	219					0	0	1	0	0	C	117037383	T	C	117037383	5	2	22	1	0	0	0	0	0	0	1	0	8476	1739	60	3	688	3	KPNA5	6	117037383	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49070	117037383	54077684	7536	9682											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000530250.1_Missense_Mutation_p.L340F|GPRC6A_ENST00000368549.3_Intron	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													88	383					0	0	1	0	0	A	117121752	G	A	117121752	3	1	22	1	0	0	0	0	1	0	0	0	6769	942	33	2	1249	2	GPRC6A	6	117121752	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84369	117121752	53993315	7537	9683											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	165					0	0	1	0	0	T	117199106	C	T	117199106	3	4	22	1	0	0	0	0	1	0	0	0	13319	536	19	1	377	1	RFX6	6	117199106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77354	117199106	53915961	7538	9684											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	187					0	0	1	0	0	T	117203536	C	T	117203536	3	4	22	1	0	0	0	0	1	0	0	0	13319	884	31	1	525	1	RFX6	6	117203536	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4430	117203536	53911531	7539	9685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	193					1.11015e-26	1.28132e-26	1	1	0	A	117203554	C	A	117203554	3	1	22	1	0	0	0	0	1	0	0	0	13319	680	24	2	543	2	RFX6	6	117203554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18	117203554	53911513	7540	9686											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													140	622					0	0	1	0	0	C	117241504	T	C	117241504	3	2	22	1	0	0	0	0	1	0	0	0	13319	1667	58	3	1260	3	RFX6	6	117241504	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37950	117241504	53873563	7541	9687											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	569					4.50738e-69	5.71813e-69	1	1	0	T	117248279	G	T	117248279	4	4	22	1	0	0	0	0	0	1	0	0	13319	1001	35	2	2041	2	RFX6	6	117248279	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6775	117248279	53866788	7542	9688											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_182645.2	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													39	183					0	0	1	0	0	T	117586967	C	T	117586967	3	4	22	1	0	0	0	0	1	0	0	0	17219	652	23	1	43	1	VGLL2	6	117586967	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	338688	117586967	53528100	7543	9689											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								56	257					7.77372e-23	8.81276e-23	1	1	0	A	117609778	C	A	117609778	3	1	22	1	0	0	0	0	1	0	0	0	13583	680	24	2	126	2	ROS1	6	117609778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22811	117609778	53505289	7544	9690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ROS1_ENST00000368507.3_Missense_Mutation_p.V780M|GOPC_ENST00000467125.1_Intron	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"								141	723					0	0	1	0	0	T	117704623	C	T	117704623	3	4	22	1	0	0	0	0	1	0	0	0	13583	536	19	1	4802	1	ROS1	6	117704623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94845	117704623	53410444	7545	9691											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ROS1_ENST00000368507.3_Missense_Mutation_p.Q612H|GOPC_ENST00000467125.1_Intron	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"								152	657					0	0	1	0	0	G	117709106	T	G	117709106	3	3	22	1	0	0	0	0	1	0	0	0	13583	1606	56	3	5316	3	ROS1	6	117709106	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4483	117709106	53405961	7546	9692											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ROS1_ENST00000368507.3_Silent_p.Y237Y|GOPC_ENST00000467125.1_Intron	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"								123	550					0	0	1	0	0	G	117718173	A	G	117718173	2	3	22	1	0	0	0	0	0	0	0	1	13583	456	16	3		3	ROS1	6	117718173	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9067	117718173	53396894	7547	9693											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.W21*|GOPC_ENST00000467125.1_Intron	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"								95	506					0	0	1	0	0	T	117746757	C	T	117746757	4	4	22	1	0	0	0	0	0	1	0	0	13583	856	30	2	7152	2	ROS1	6	117746757	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28584	117746757	53368310	7548	9694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	DCBLD1_ENST00000296955.8_Silent_p.V128V|DCBLD1_ENST00000368503.4_Silent_p.V128V|GOPC_ENST00000467125.1_Intron			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													80	312					0	0	1	0	0	G	117841037	A	G	117841037	2	3	22	1	0	0	0	0	0	0	0	1	4303	349	13	3		3	DCBLD1	6	117841037	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	94280	117841037	53274030	7549	9695											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	393					0	0	1	0	0	A	118015211	G	A	118015211	3	1	22	1	0	0	0	0	1	0	0	0	10825	1203	42	2	569	2	NUS1	6	118015211	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174174	118015211	53099856	7550	9696											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	571					0	0	1	0	0	T	118475773	C	T	118475773	2	4	22	1	0	0	0	0	0	0	0	1	14643	639	23	1		1	SLC35F1	6	118475773	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	460562	118475773	52639294	7551	9697											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368475.4_Missense_Mutation_p.A373S|FAM184A_ENST00000352896.5_Missense_Mutation_p.A373S|FAM184A_ENST00000521531.1_Missense_Mutation_p.A493S|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.A373S	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													61	343					1.53716e-24	1.75837e-24	1	1	0	A	119337965	C	A	119337965	3	1	22	1	0	0	0	0	1	0	0	0	5542	739	26	2	2001	2	FAM184A	6	119337965	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	862192	119337965	51777102	7552	9698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368475.4_Missense_Mutation_p.K330N|FAM184A_ENST00000352896.5_Missense_Mutation_p.K330N|FAM184A_ENST00000521531.1_Missense_Mutation_p.K450N|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.K330N	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													44	202					1.76056e-25	2.02043e-25	1	1	0	A	119338092	C	A	119338092	3	1	22	1	0	0	0	0	1	0	0	0	5542	912	32	2	2128	2	FAM184A	6	119338092	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127	119338092	51776975	7553	9699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000465214.1_3'UTR|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													94	615					0	0	1	0	0	T	122753094	C	T	122753094	3	4	22	1	0	0	0	0	1	0	0	0	7437	739	26	2	1390	2	HSF2	6	122753094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3415002	122753094	48361973	7554	9700											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368452.2_Silent_p.K72K|PKIB_ENST00000354275.2_Silent_p.K72K|PKIB_ENST00000368448.1_Silent_p.K72K|PKIB_ENST00000392491.2_Silent_p.K72K|PKIB_ENST00000368446.1_Silent_p.K81K|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													13	59					0	0	1	0	0	A	123046319	G	A	123046319	2	1	22	1	0	0	0	0	0	0	0	1	12022	962	34	2		2	PKIB	6	123046319	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	293225	123046319	48068748	7555	9701											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	215					0	0	1	0	0	A	123127404	G	A	123127404	3	1	22	1	0	0	0	0	1	0	0	0	14862	1203	42	2	972	2	SMPDL3A	6	123127404	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81085	123127404	47987663	7556	9702											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													254	1243					0	0	1	0	0	A	126080535	G	A	126080535	3	1	22	1	0	0	0	0	1	0	0	0	7120	1116	39	1	619	1	HEY2	6	126080535	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2953131	126080535	45034532	7557	9703											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450358.1_Silent_p.P145P|TRMT11_ENST00000368332.3_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													8	374					0	0	1	0	0	A	126319743	G	A	126319743	2	1	22	1	0	0	0	0	0	0	0	1	16623	1074	38	1		1	TRMT11	6	126319743	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	239208	126319743	44795324	7558	9704											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	137					0	0	1	0	0	A	126332478	G	A	126332478	2	1	22	1	0	0	0	0	0	0	0	1	16623	933	33	2		2	TRMT11	6	126332478	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12735	126332478	44782589	7559	9705											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	306					0	0	1	0	0	T	126342391	C	T	126342391	3	4	22	1	0	0	0	0	1	0	0	0	16623	768	27	1	1271	1	TRMT11	6	126342391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9913	126342391	44772676	7560	9706											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368326.1_Silent_p.G39G|CENPW_ENST00000368325.1_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													63	281					0	0	1	0	0	C	126661536	T	C	126661536	2	2	22	1	0	0	0	0	0	0	0	1	3266	1683	59	3		3	CENPW	6	126661536	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	319145	126661536	44453531	7561	9707											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	494					0	0	1	0	0	T	127440424	C	T	127440424	2	4	22	1	0	0	0	0	0	0	0	1	13763	726	26	2		2	RSPO3	6	127440424	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	778888	127440424	43674643	7562	9708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	352					1.26778e-28	1.47706e-28	1	1	0	T	127476492	G	T	127476492	3	4	22	1	0	0	0	0	1	0	0	0	13763	962	34	2	557	2	RSPO3	6	127476492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36068	127476492	43638575	7563	9709											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000309649.3_Silent_p.Y116Y|RNF146_ENST00000356799.2_Silent_p.Y116Y	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|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													90	403					0	0	1	0	0	T	127608109	C	T	127608109	2	4	22	1	0	0	0	0	0	0	0	1	13500	547	19	1		1	RNF146	6	127608109	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131617	127608109	43506958	7564	9710											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000309649.3_Missense_Mutation_p.R332Q|RNF146_ENST00000356799.2_Missense_Mutation_p.R332Q	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|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													61	293					0	0	1	0	0	A	127608756	G	A	127608756	3	1	22	1	0	0	0	0	1	0	0	0	13500	1058	37	1	997	1	RNF146	6	127608756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	647	127608756	43506311	7565	9711											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000430841.2_Missense_Mutation_p.E276K|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000474289.2_Missense_Mutation_p.E276K|ECHDC1_ENST00000454859.3_Missense_Mutation_p.E276K|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000454591.2_Missense_Mutation_p.E201K|ECHDC1_ENST00000309620.9_Missense_Mutation_p.E259K	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													131	539					0	0	1	0	0	T	127611094	C	T	127611094	3	4	22	1	0	0	0	0	1	0	0	0	4919	893	31	1	83	1	ECHDC1	6	127611094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2338	127611094	43503973	7566	9712											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_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													47	183					2.46787e-29	2.8822e-29	1	1	0	A	127765336	C	A	127765336	3	1	22	1	0	0	0	0	1	0	0	0	8216	913	32	2	85	2	KIAA0408	6	127765336	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154242	127765336	43349731	7567	9713											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_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													84	361					1.75807e-36	2.10477e-36	1	1	0	A	127771148	C	A	127771148	3	1	22	1	0	0	0	0	1	0	0	0	8216	739	26	2	1615	2	KIAA0408	6	127771148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5812	127771148	43343919	7568	9714											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_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													134	563					0	0	1	0	0	A	127771254	T	A	127771254	4	1	22	1	0	0	0	0	0	1	0	0	8216	1850	64	5	1721	5	KIAA0408	6	127771254	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	106	127771254	43343813	7569	9715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	467					1.38319e-45	1.69661e-45	1	1	0	A	127898440	C	A	127898440	3	1	22	1	0	0	0	0	1	0	0	0	2382	681	24	2	112	2	C6orf58	6	127898440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127186	127898440	43216627	7570	9716											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	326					0	0	1	0	0	A	128134272	G	A	128134272	3	1	22	1	0	0	0	0	1	0	0	0	15920	1000	35	2	544	2	THEMIS	6	128134272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	235832	128134272	42980795	7571	9717											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	399					0	0	1	0	0	A	128134756	G	A	128134756	3	1	22	1	0	0	0	0	1	0	0	0	15920	1086	38	1	1028	1	THEMIS	6	128134756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	484	128134756	42980311	7572	9718											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368248.2_Missense_Mutation_p.I33S|THEMIS_ENST00000368250.1_5'UTR|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													22	105					0	0	1	0	0	C	128176327	A	C	128176327	3	2	22	1	0	0	0	0	1	0	0	0	15920	101	4	3	1968	3	THEMIS	6	128176327	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41571	128176327	42938740	7573	9719											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368215.3_Missense_Mutation_p.E358K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E358K|PTPRK_ENST00000368207.3_Missense_Mutation_p.E358K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E358K|PTPRK_ENST00000368213.5_Missense_Mutation_p.E358K|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_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													124	589					0	0	1	0	0	T	128505667	C	T	128505667	3	4	22	1	0	0	0	0	1	0	0	0	12857	893	31	1	3368	1	PTPRK	6	128505667	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	329340	128505667	42609400	7574	9720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000417.2|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													15	404					0	0	1	0	0	T	129371108	C	T	129371108	3	4	22	1	0	0	0	0	1	0	0	0	8645	536	19	1	164	1	LAMA2	6	129371108	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	865441	129371108	41743959	7575	9721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000417.2|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													46	242					0	0	1	0	0	A	129511410	G	A	129511410	3	1	22	1	0	0	0	0	1	0	0	0	8645	1174	41	2	1570	2	LAMA2	6	129511410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140302	129511410	41603657	7576	9722											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000417.2|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													33	125					0	0	1	0	0	G	129612818	T	G	129612818	3	3	22	1	0	0	0	0	1	0	0	0	8645	1696	59	3	2887	3	LAMA2	6	129612818	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	101408	129612818	41502249	7577	9723											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000417.2|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													29	144					0	0	1	0	0	T	129618972	C	T	129618972	3	4	22	1	0	0	0	0	1	0	0	0	8645	739	26	2	3081	2	LAMA2	6	129618972	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6154	129618972	41496095	7578	9724											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000417.2|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													24	109					0	0	1	0	0	A	129634016	G	A	129634016	3	1	22	1	0	0	0	0	1	0	0	0	8645	1319	46	2	3275	2	LAMA2	6	129634016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15044	129634016	41481051	7579	9725											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000417.2|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													56	244					0	0	1	0	0	T	129687448	C	T	129687448	3	4	22	1	0	0	0	0	1	0	0	0	8645	652	23	1	4932	1	LAMA2	6	129687448	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53432	129687448	41427619	7580	9726	60	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000417.2|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													53	206					0	0	1	0	0	T	129687457	C	T	129687457	3	4	22	1	0	0	0	0	1	0	0	0	8645	768	27	1	4941	1	LAMA2	6	129687457	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9	129687457	41427610	7581	9727	60	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000417.2|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													81	353					0	0	1	0	0	C	129781471	T	C	129781471	5	2	22	1	0	0	0	0	0	0	1	0	8645	1739	60	3	7188	3	LAMA2	6	129781471	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	94014	129781471	41333596	7582	9728											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													142	523					0	0	1	0	0	A	129950516	G	A	129950516	2	1	22	1	0	0	0	0	0	0	0	1	865	1074	38	1		1	ARHGAP18	6	129950516	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169045	129950516	41164551	7583	9729											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000439090.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000457563.2_Missense_Mutation_p.R247Q|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000368134.2_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													62	266					0	0	1	0	0	T	130497140	C	T	130497140	3	4	22	1	0	0	0	0	1	0	0	0	13872	884	31	1	914	1	SAMD3	6	130497140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	546624	130497140	40617927	7584	9730											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000324172.6_Silent_p.E213E|SAMD3_ENST00000439090.2_Silent_p.E213E|SAMD3_ENST00000457563.2_Silent_p.E237E|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Silent_p.E213E|SAMD3_ENST00000368134.2_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													25	161					0	0	1	0	0	T	130505263	C	T	130505263	2	4	22	1	0	0	0	0	0	0	0	1	13872	680	24	2		2	SAMD3	6	130505263	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8123	130505263	40609804	7585	9731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545622.1_Missense_Mutation_p.P303H|TMEM200A_ENST00000296978.3_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													71	341					2.23399e-28	2.59905e-28	1	1	0	A	130762475	C	A	130762475	3	1	22	1	0	0	0	0	1	0	0	0	16183	623	22	2	910	2	TMEM200A	6	130762475	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257212	130762475	40352592	7586	9732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527411.1_Missense_Mutation_p.A763T|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.A763T|EPB41L2_ENST00000368128.2_Missense_Mutation_p.A833T|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.A211T|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525271.1_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													25	1132					0	0	1	0	0	T	131190813	C	T	131190813	3	4	22	1	0	0	0	0	1	0	0	0	5181	768	27	1	540	1	EPB41L2	6	131190813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	428338	131190813	39924254	7587	9733											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527411.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000368128.2_Silent_p.S649S|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530757.1_Silent_p.S48S|EPB41L2_ENST00000524581.1_Silent_p.S27S|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525271.1_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													64	277					0	0	1	0	0	G	131199340	A	G	131199340	2	3	22	1	0	0	0	0	0	0	0	1	5181	156	6	3		3	EPB41L2	6	131199340	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8527	131199340	39915727	7588	9734											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527411.1_Splice_Site|EPB41L2_ENST00000527659.1_Splice_Site|EPB41L2_ENST00000525193.1_Splice_Site|EPB41L2_ENST00000529208.1_Splice_Site|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000368128.2_Splice_Site|EPB41L2_ENST00000392427.3_Splice_Site|EPB41L2_ENST00000530481.1_Splice_Site|EPB41L2_ENST00000525271.1_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													91	501					0	0	1	0	0	T	131276458	C	T	131276458	5	4	22	1	0	0	0	0	0	0	1	0	5181	811	28	2	2593	2	EPB41L2	6	131276458	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77118	131276458	39838609	7589	9735											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368123.4_Missense_Mutation_p.Q84H|AKAP7_ENST00000541650.1_Missense_Mutation_p.Q105H|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													29	146					5.60225e-13	6.03507e-13	1	1	0	T	131486247	G	T	131486247	3	4	22	1	0	0	0	0	1	0	0	0	453	933	33	2	262	2	AKAP7	6	131486247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	209789	131486247	39628820	7590	9736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368123.4_Silent_p.K211K|AKAP7_ENST00000541650.1_Silent_p.K232K	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)	27	247					0	0	1	0	0	A	131520710	G	A	131520710	2	1	22	1	0	0	0	0	0	0	0	1	453	933	33	2		2	AKAP7	6	131520710	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34463	131520710	39594357	7591	9737											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368123.4_Missense_Mutation_p.G266R|AKAP7_ENST00000474850.2_Missense_Mutation_p.G44R|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000263050.3_Missense_Mutation_p.G24R|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000342266.4_Missense_Mutation_p.G21R	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													32	191					0	0	1	0	0	A	131602681	G	A	131602681	3	1	22	1	0	0	0	0	1	0	0	0	453	1117	39	1	948	1	AKAP7	6	131602681	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81971	131602681	39512386	7592	9738											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368058.1_Missense_Mutation_p.E779K|MED23_ENST00000368060.3_Missense_Mutation_p.E773K|MED23_ENST00000368053.4_Missense_Mutation_p.E779K|MED23_ENST00000368068.3_Missense_Mutation_p.E773K|MED23_ENST00000354577.4_Missense_Mutation_p.E779K|MED23_ENST00000540546.1_Missense_Mutation_p.E779K|MED23_ENST00000545957.1_Missense_Mutation_p.E414K			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													69	322					0	0	1	0	0	T	131919805	C	T	131919805	3	4	22	1	0	0	0	0	1	0	0	0	9491	893	31	1	1840	1	MED23	6	131919805	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	317124	131919805	39195262	7593	9739											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368058.1_Missense_Mutation_p.P669S|MED23_ENST00000368060.3_Missense_Mutation_p.P663S|MED23_ENST00000368053.4_Missense_Mutation_p.P669S|MED23_ENST00000539158.1_3'UTR|MED23_ENST00000368068.3_Missense_Mutation_p.P663S|MED23_ENST00000354577.4_Missense_Mutation_p.P669S|MED23_ENST00000540546.1_Missense_Mutation_p.P669S|MED23_ENST00000545957.1_Missense_Mutation_p.P304S			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													32	296					0	0	1	0	0	A	131923466	G	A	131923466	3	1	22	1	0	0	0	0	1	0	0	0	9491	1261	44	2	2178	2	MED23	6	131923466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3661	131923466	39191601	7594	9740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368058.1_Nonsense_Mutation_p.G331*|MED23_ENST00000368060.3_Nonsense_Mutation_p.G325*|MED23_ENST00000368053.4_Nonsense_Mutation_p.G331*|MED23_ENST00000539158.1_Nonsense_Mutation_p.G325*|MED23_ENST00000368068.3_Nonsense_Mutation_p.G325*|MED23_ENST00000354577.4_Nonsense_Mutation_p.G331*|MED23_ENST00000540546.1_Nonsense_Mutation_p.G331*|MED23_ENST00000545957.1_Nonsense_Mutation_p.G14*			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													65	344					9.39563e-20	1.04965e-19	1	1	0	A	131931290	C	A	131931290	4	1	22	1	0	0	0	0	0	1	0	0	9491	632	22	2	3216	2	MED23	6	131931290	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7824	131931290	39183777	7595	9741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427148.2_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.A311V|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													51	219					0	0	1	0	0	T	131997935	C	T	131997935	3	4	22	1	0	0	0	0	1	0	0	0	5159	797	28	2	970	2	ENPP3	6	131997935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66645	131997935	39117132	7596	9742											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	294					0	0	1	0	0	A	132043409	G	A	132043409	3	1	22	1	0	0	0	0	1	0	0	0	5159	1261	44	2	1680	2	ENPP3	6	132043409	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45474	132043409	39071658	7597	9743											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	457					0	0	1	0	0	A	132785210	G	A	132785210	2	1	22	1	0	0	0	0	0	0	0	1	15406	1310	46	2		2	STX7	6	132785210	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	741801	132785210	38329857	7598	9744											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367937.4_Nonsense_Mutation_p.R121*|STX7_ENST00000448348.3_5'UTR	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													15	546					0	0	1	0	0	A	132792628	G	A	132792628	4	1	22	1	0	0	0	0	0	1	0	0	15406	1066	37	1	448	1	STX7	6	132792628	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7418	132792628	38322439	7599	9745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													193	923					0	0	1	0	0	T	132873992	C	T	132873992	3	4	22	1	0	0	0	0	1	0	0	0	15550	565	20	2	163	2	TAAR8	6	132873992	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81364	132873992	38241075	7600	9746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	319					0	0	1	0	0	A	132874819	T	A	132874819	3	1	22	1	0	0	0	0	1	0	0	0	15550	1838	64	5	990	5	TAAR8	6	132874819	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	827	132874819	38240248	7601	9747											
TAAR6	319100	broad.mit.edu	37	chr6	132891977	132891977	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgttctacacaggtgtcTatgacgatgggctggaggaa	14	7	2	1	rs41298397	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132891977T>C	ENST00000275198.1	+	1	517	c.517T>C	c.(517-519)Tat>Cat	p.Y173H		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	173			Y -> C (in dbSNP:rs17061404).			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)		CACAGGTGTCTATGACGATGG	0.468													205	818					0	0	1	0	0	C	132891977	T	C	132891977	3	2	22	1	0	0	0	0	1	0	0	0	15549	1522	53	3	519	3	TAAR6	6	132891977	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17158	132891977	38223090	7602	9748											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	252					0	0	1	0	0	C	132892109	T	C	132892109	3	2	22	1	0	0	0	0	1	0	0	0	15549	1638	57	3	651	3	TAAR6	6	132892109	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	132	132892109	38222958	7603	9749											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	238					0	0	1	0	0	G	132909876	T	G	132909876	3	3	22	1	0	0	0	0	1	0	0	0	15548	1841	64	3	67	3	TAAR5	6	132909876	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17767	132909876	38205191	7604	9750											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	400					0	0	1	0	0	C	132910426	A	C	132910426	3	2	22	1	0	0	0	0	1	0	0	0	15548	188	7	3	617	3	TAAR5	6	132910426	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	550	132910426	38204641	7605	9751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	358					0	0	1	0	0	T	132939158	C	T	132939158	3	4	22	1	0	0	0	0	1	0	0	0	15547	710	25	2	872	2	TAAR2	6	132939158	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28732	132939158	38175909	7606	9752											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	258					0	0	1	0	0	T	132966836	C	T	132966836	3	4	22	1	0	0	0	0	1	0	0	0	15546	884	31	1	716	1	TAAR1	6	132966836	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27678	132966836	38148231	7607	9753											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	149					0	0	1	0	0	T	133004445	C	T	133004445	3	4	22	1	0	0	0	0	1	0	0	0	17242	768	27	1	169	1	VNN1	6	133004445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37609	133004445	38110622	7608	9754											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	EYA4_ENST00000452339.2_Silent_p.A456A|EYA4_ENST00000430974.2_Silent_p.A462A|EYA4_ENST00000431403.2_Silent_p.A510A|EYA4_ENST00000355286.6_Silent_p.A487A|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000531901.1_Silent_p.A516A|EYA4_ENST00000525849.1_Silent_p.A487A|EYA4_ENST00000355167.3_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													94	417					0	0	1	0	0	T	133836487	C	T	133836487	2	4	22	1	0	0	0	0	0	0	0	1	5359	668	24	2		2	EYA4	6	133836487	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	832042	133836487	37278580	7609	9755											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	EYA4_ENST00000452339.2_Missense_Mutation_p.Y520C|EYA4_ENST00000430974.2_Missense_Mutation_p.Y526C|EYA4_ENST00000431403.2_Missense_Mutation_p.Y574C|EYA4_ENST00000355286.6_Missense_Mutation_p.Y551C|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000531901.1_Missense_Mutation_p.Y580C|EYA4_ENST00000525849.1_Missense_Mutation_p.Y551C|EYA4_ENST00000355167.3_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													104	462					0	0	1	0	0	G	133844298	A	G	133844298	3	3	22	1	0	0	0	0	1	0	0	0	5359	391	14	3	1787	3	EYA4	6	133844298	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7811	133844298	37270769	7610	9756											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	442					0	0	1	0	0	T	134350298	C	T	134350298	3	4	22	1	0	0	0	0	1	0	0	0	14596	652	23	1	1204	1	SLC2A12	6	134350298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	506000	134350298	36764769	7611	9757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528577.1_Intron|SGK1_ENST00000237305.7_Intron|SGK1_ENST00000413996.3_Intron|SGK1_ENST00000367858.5_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)	51	184					0	0	1	0	0	A	134495755	G	A	134495755	3	1	22	1	0	0	0	0	1	0	0	0	14261	1160	40	1		1	SGK1	6	134495755	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145457	134495755	36619312	7612	9758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	130					0	0	1	0	0	C	134583014	A	C	134583014	3	2	22	1	0	0	0	0	1	0	0	0	14261	29	1	3		3	SGK1	6	134583014	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	87259	134583014	36532053	7613	9759											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T140M|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													9	307					0	0	1	0	0	A	135263570	G	A	135263570	3	1	22	1	0	0	0	0	1	0	0	0	502	1145	40	1	1064	1	ALDH8A1	6	135263570	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	680556	135263570	35851497	7614	9760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527578.1_Missense_Mutation_p.N476H|HBS1L_ENST00000415177.2_Missense_Mutation_p.N575H|HBS1L_ENST00000367826.2_Missense_Mutation_p.N598H|HBS1L_ENST00000445176.2_Missense_Mutation_p.N364H|HBS1L_ENST00000367824.4_Missense_Mutation_p.N476H	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													91	404					0	0	1	0	0	G	135287592	T	G	135287592	3	3	22	1	0	0	0	0	1	0	0	0	7028	1783	62	3	144	3	HBS1L	6	135287592	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24022	135287592	35827475	7615	9761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527578.1_Missense_Mutation_p.P316H|HBS1L_ENST00000415177.2_Missense_Mutation_p.P415H|HBS1L_ENST00000367826.2_Missense_Mutation_p.P438H|HBS1L_ENST00000445176.2_Missense_Mutation_p.P204H|HBS1L_ENST00000367824.4_Missense_Mutation_p.P316H	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													22	619					1.10513e-12	1.18868e-12	1	1	0	T	135306532	G	T	135306532	3	4	22	1	0	0	0	0	1	0	0	0	7028	1232	43	2	643	2	HBS1L	6	135306532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18940	135306532	35808535	7616	9762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527578.1_Missense_Mutation_p.K130M|HBS1L_ENST00000415177.2_Missense_Mutation_p.K229M|HBS1L_ENST00000367826.2_Missense_Mutation_p.K252M|HBS1L_ENST00000445176.2_Missense_Mutation_p.K18M|HBS1L_ENST00000367824.4_Missense_Mutation_p.K130M	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													170	664					0	0	1	0	0	A	135317999	T	A	135317999	3	1	22	1	0	0	0	0	1	0	0	0	7028	1609	56	5	1221	5	HBS1L	6	135317999	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11467	135317999	35797068	7617	9763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534044.1_Intron|MYB_ENST00000527615.1_Intron|MYB_ENST00000442647.2_Intron|MYB_ENST00000528774.1_Missense_Mutation_p.P473Q|MYB_ENST00000525369.1_Intron|MYB_ENST00000531845.1_Intron|MYB_ENST00000316528.8_Intron|MYB_ENST00000534121.1_Missense_Mutation_p.P460Q|MYB_ENST00000367814.4_Intron|MYB_ENST00000533624.1_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								49	265					1.21353e-23	1.38083e-23	1	1	0	A	135518322	C	A	135518322	3	1	22	1	0	0	0	0	1	0	0	0	10055	594	21	2	1465	2	MYB	6	135518322	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200323	135518322	35596745	7618	9764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534044.1_Intron|MYB_ENST00000527615.1_Intron|MYB_ENST00000442647.2_Intron|MYB_ENST00000528774.1_Missense_Mutation_p.S493I|MYB_ENST00000525369.1_Intron|MYB_ENST00000531845.1_Intron|MYB_ENST00000316528.8_Intron|MYB_ENST00000534121.1_Missense_Mutation_p.S480I|MYB_ENST00000367814.4_Intron|MYB_ENST00000533624.1_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								43	255					1.32136e-16	1.45297e-16	1	1	0	T	135518382	G	T	135518382	3	4	22	1	0	0	0	0	1	0	0	0	10055	971	34	2	1525	2	MYB	6	135518382	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	135518382	35596685	7619	9765											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417892.2_5'UTR|AHI1_ENST00000457866.2_Missense_Mutation_p.F617L|AHI1_ENST00000327035.6_Missense_Mutation_p.F617L	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													16	50					2.31682e-05	2.36778e-05	1	1	0	T	135763781	G	T	135763781	3	4	22	1	0	0	0	0	1	0	0	0	410	933	33	2	1860	2	AHI1	6	135763781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	245399	135763781	35351286	7620	9766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	417					0	0	1	0	0	T	135778797	C	T	135778797	3	4	22	1	0	0	0	0	1	0	0	0	410	884	31	1	2745	1	AHI1	6	135778797	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15016	135778797	35336270	7621	9767											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_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													12	122					2.27111e-07	2.35674e-07	1	1	0	A	136512832	C	A	136512832	3	1	22	1	0	0	0	0	1	0	0	0	11699	796	28	2	1257	2	PDE7B	6	136512832	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	734035	136512832	34602235	7622	9768											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000353331.4_Missense_Mutation_p.P725L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P725L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P554L|BCLAF1_ENST00000529917.1_5'UTR|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													14	383					0	0	1	0	0	A	136590614	G	A	136590614	3	1	22	1	0	0	0	0	1	0	0	0	1381	1348	47	2	602	2	BCLAF1	6	136590614	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77782	136590614	34524453	7623	9769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000353331.4_Missense_Mutation_p.F673V|BCLAF1_ENST00000527759.1_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													39	319					0	0	1	0	0	C	136593153	A	C	136593153	3	2	22	1	0	0	0	0	1	0	0	0	1381	14	1	3	763	3	BCLAF1	6	136593153	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2539	136593153	34521914	7624	9770											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000353331.4_Missense_Mutation_p.R427Q|BCLAF1_ENST00000527759.1_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													116	1207					0	0	1	0	0	T	136597377	C	T	136597377	3	4	22	1	0	0	0	0	1	0	0	0	1381	652	23	1	1512	1	BCLAF1	6	136597377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4224	136597377	34517690	7625	9771											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544465.1_Missense_Mutation_p.S253L|MAP7_ENST00000438100.2_Missense_Mutation_p.S253L|MAP7_ENST00000432797.2_Missense_Mutation_p.S122L|MAP7_ENST00000454590.1_Missense_Mutation_p.S290L	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													65	264					0	0	1	0	0	A	136693712	G	A	136693712	3	1	22	1	0	0	0	0	1	0	0	0	9316	1059	37	1	1490	1	MAP7	6	136693712	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96335	136693712	34421355	7626	9772											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544465.1_Missense_Mutation_p.N171S|MAP7_ENST00000438100.2_Intron|MAP7_ENST00000432797.2_Missense_Mutation_p.N40S|MAP7_ENST00000454590.1_Missense_Mutation_p.N208S	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													72	284					0	0	1	0	0	C	136704889	T	C	136704889	3	2	22	1	0	0	0	0	1	0	0	0	9316	1493	52	3	1744	3	MAP7	6	136704889	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11177	136704889	34410178	7627	9773											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	1144					0	0	1	0	0	A	137191085	G	A	137191085	3	1	22	1	0	0	0	0	1	0	0	0	11799	1377	48	2	717	2	PEX7	6	137191085	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	486196	137191085	33923982	7628	9774											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													130	563					2.70824e-66	3.42657e-66	1	1	0	A	137234651	C	A	137234651	3	1	22	1	0	0	0	0	1	0	0	0	11799	565	20	2	997	2	PEX7	6	137234651	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43566	137234651	33880416	7629	9775											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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													130	521					0	0	1	0	0	A	137329757	G	A	137329757	4	1	22	1	0	0	0	0	0	1	0	0	7712	1328	46	2	970	2	IL20RA	6	137329757	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95106	137329757	33785310	7630	9776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	245					0	0	1	0	0	C	137519427	T	C	137519427	3	2	22	1	0	0	0	0	1	0	0	0	7593	1551	54	3	262	3	IFNGR1	6	137519427	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	189670	137519427	33595640	7631	9777											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	102					0	0	1	0	0	A	137814750	G	A	137814750	2	1	22	1	0	0	0	0	0	0	0	1	10910	1074	38	1		1	OLIG3	6	137814750	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	295323	137814750	33300317	7632	9778											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	218					0	0	1	0	0	A	137814819	G	A	137814819	2	1	22	1	0	0	0	0	0	0	0	1	10910	1103	39	1		1	OLIG3	6	137814819	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69	137814819	33300248	7633	9779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	586					0	0	1	0	0	A	137815078	G	A	137815078	3	1	22	1	0	0	0	0	1	0	0	0	10910	1059	37	1	592	1	OLIG3	6	137815078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	259	137815078	33299989	7634	9780											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	398					4.35598e-54	5.43542e-54	1	1	0	A	137815239	C	A	137815239	3	1	22	1	0	0	0	0	1	0	0	0	10910	622	22	2	753	2	OLIG3	6	137815239	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161	137815239	33299828	7635	9781											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								90	364					1.84514e-49	2.28236e-49	1	1	0	A	138200249	C	A	138200249	3	1	22	1	0	0	0	0	1	0	0	0	16334	681	24	2	1689	2	TNFAIP3	6	138200249	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	385010	138200249	32914818	7636	9782											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138417631G>A	ENST00000421351.3	-	2	385	c.214_splice	c.e2-1	p.A72_splice		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													22	72					0	0	1	0	0	A	138417631	G	A	138417631	5	1	22	1	0	0	0	0	0	0	1	0	11779	1101	38	1	374	1	PERP	6	138417631	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217382	138417631	32697436	7637	9783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	309					0	0	1	0	0	T	138576683	C	T	138576683	3	4	22	1	0	0	0	0	1	0	0	0	8259	768	27	1	919	1	KIAA1244	6	138576683	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159052	138576683	32538384	7638	9784											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	149					0	0	1	0	0	C	138634943	A	C	138634943	3	2	22	1	0	0	0	0	1	0	0	0	8259	11	1	3	4314	3	KIAA1244	6	138634943	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	58260	138634943	32480124	7639	9785											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	126					0	0	1	0	0	G	138655861	A	G	138655861	3	3	22	1	0	0	0	0	1	0	0	0	8259	43	2	3	6008	3	KIAA1244	6	138655861	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20918	138655861	32459206	7640	9786											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	53					2.0095e-06	2.07161e-06	1	1	0	T	138656299	G	T	138656299	3	4	22	1	0	0	0	0	1	0	0	0	8259	1261	44	2	6446	2	KIAA1244	6	138656299	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	438	138656299	32458768	7641	9787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	50					0	0	1	0	0	A	138656314	G	A	138656314	3	1	22	1	0	0	0	0	1	0	0	0	8259	971	34	2	6461	2	KIAA1244	6	138656314	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	138656314	32458753	7642	9788											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	388					0	0	1	0	0	T	139097399	C	T	139097399	4	4	22	1	0	0	0	0	0	1	0	0	2821	760	27	1	418	1	CCDC28A	6	139097399	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	441085	139097399	32017668	7643	9789											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								62	269					0	0	1	0	0	C	139186158	A	C	139186158	3	2	22	1	0	0	0	0	1	0	0	0	4928	98	4	3	1355	3	ECT2L	6	139186158	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	88759	139186158	31928909	7644	9790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	321					2.93416e-43	3.58019e-43	1	1	0	A	139237004	C	A	139237004	3	1	22	1	0	0	0	0	1	0	0	0	13280	565	20	2	707	2	REPS1	6	139237004	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50846	139237004	31878063	7645	9791											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	212					2.76378e-25	3.16915e-25	1	1	0	T	139242254	G	T	139242254	3	4	22	1	0	0	0	0	1	0	0	0	13280	971	34	2	1084	2	REPS1	6	139242254	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5250	139242254	31872813	7646	9792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	235					0	0	1	0	0	A	139265101	G	A	139265101	3	1	22	1	0	0	0	0	1	0	0	0	13280	1058	37	1	1645	1	REPS1	6	139265101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22847	139265101	31849966	7647	9793											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000585447.1_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													28	123					0	0	1	0	0	A	139498117	G	A	139498117	3	1	22	1	0	0	0	0	1	0	0	0	7079	1058	37	1	1521	1	HECA	6	139498117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	233016	139498117	31616950	7648	9794											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	556					0	0	1	0	0	C	139563819	T	C	139563819	2	2	22	1	0	0	0	0	0	0	0	1	16850	1567	55	3		3	TXLNB	6	139563819	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	65702	139563819	31551248	7649	9795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	357					0	0	1	0	0	A	139564024	G	A	139564024	3	1	22	1	0	0	0	0	1	0	0	0	16850	1203	42	2	364	2	TXLNB	6	139564024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205	139564024	31551043	7650	9796											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	158					2.24893e-16	2.47056e-16	1	1	0	T	139598041	G	T	139598041	3	4	22	1	0	0	0	0	1	0	0	0	16850	962	34	2	1644	2	TXLNB	6	139598041	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34017	139598041	31517026	7651	9797											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	291					0	0	1	0	0	T	139694740	C	T	139694740	3	4	22	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	7652	9798											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	153					0	0	1	0	0	A	139695019	G	A	139695019	2	1	22	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	7653	9799											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	372					0	0	1	0	0	T	142396962	C	T	142396962	2	4	22	1	0	0	0	0	0	0	0	1	10534	854	30	2		2	NMBR	6	142396962	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2701943	142396962	28718105	7654	9800											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	139					0	0	1	0	0	T	142409766	C	T	142409766	2	4	22	1	0	0	0	0	0	0	0	1	10534	639	23	1		1	NMBR	6	142409766	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12804	142409766	28705301	7655	9801											
GPR126	0	broad.mit.edu	37	chr6	142691376	142691377	+	Frame_Shift_Ins	INS	-	-	A													gcttaccaggtatctgttgcINSaaaaagcatctctattccag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:142691376_142691377insA	ENST00000230173.6	+	4	991_992	c.515_516insA	c.(514-516)gaafs	p.E172fs	GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367608.2_Frame_Shift_Ins_p.E172fs|GPR126_ENST00000296932.8_Frame_Shift_Ins_p.E172fs|GPR126_ENST00000367609.3_Frame_Shift_Ins_p.E172fs	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	172	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)		GTATCTGTTGCAAAAAGCATCT	0.421													14	176	---	---	---	---						A	142691377	-	A	142691376	7	5	22	1	0	1	1	0	0	0	0	0	6680	710	25	0	529	0	GPR126	6	142691376	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	281610	142691376	28423691	7656	9802											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2380T	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													118	540					4.53158e-46	5.56357e-46	1	1	0	T	143074447	G	T	143074447	3	4	22	1	0	0	0	0	1	0	0	0	7228	1203	42	2	206	2	HIVEP2	6	143074447	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	383071	143074447	28040620	7657	9803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	225					0	0	1	0	0	C	143081626	T	C	143081626	2	2	22	1	0	0	0	0	0	0	0	1	7228	1799	63	3		3	HIVEP2	6	143081626	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7179	143081626	28033441	7658	9804											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													162	725					0	0	1	0	0	A	143082630	G	A	143082630	3	1	22	1	0	0	0	0	1	0	0	0	7228	1059	37	1	1761	1	HIVEP2	6	143082630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1004	143082630	28032437	7659	9805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													145	595					0	0	1	0	0	A	143094707	G	A	143094707	3	1	22	1	0	0	0	0	1	0	0	0	7228	1116	39	1	6195	1	HIVEP2	6	143094707	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12077	143094707	28020360	7660	9806											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	347					0	0	1	0	0	T	143753712	C	T	143753712	3	4	22	1	0	0	0	0	1	0	0	0	284	884	31	1	198	1	ADAT2	6	143753712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	659005	143753712	27361355	7661	9807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	488					0	0	1	0	0	T	143780343	C	T	143780343	2	4	22	1	0	0	0	0	0	0	0	1	11795	718	25	2		2	PEX3	6	143780343	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26631	143780343	27334724	7662	9808											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367582.3_Missense_Mutation_p.L273I|PHACTR2_ENST00000367584.4_Missense_Mutation_p.L330I|PHACTR2_ENST00000440869.2_Missense_Mutation_p.L353I|PHACTR2_ENST00000305766.6_Missense_Mutation_p.L262I	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													73	316					4.01556e-35	4.78946e-35	1	1	0	A	144086760	C	A	144086760	3	1	22	1	0	0	0	0	1	0	0	0	11858	913	32	2	1096	2	PHACTR2	6	144086760	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	306417	144086760	27028307	7663	9809											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367582.3_Silent_p.S323S|PHACTR2_ENST00000367584.4_Silent_p.S380S|PHACTR2_ENST00000440869.2_Silent_p.S403S|PHACTR2_ENST00000305766.6_Silent_p.S312S	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													88	391					0	0	1	0	0	C	144086912	T	C	144086912	2	2	22	1	0	0	0	0	0	0	0	1	11858	1693	59	3		3	PHACTR2	6	144086912	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	152	144086912	27028155	7664	9810											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429150.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000392309.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000416623.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000367572.1_Missense_Mutation_p.K130T|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			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)	11	441					0	0	1	0	0	G	144263408	T	G	144263408	3	3	22	1	0	0	0	0	1	0	0	0	12067	1609	56	3	850	3	PLAGL1	6	144263408	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	176496	144263408	26851659	7665	9811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429150.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000392309.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000416623.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000367572.1_Missense_Mutation_p.L68F|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			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)	6	193					0	0	1	0	0	A	144263595	G	A	144263595	3	1	22	1	0	0	0	0	1	0	0	0	12067	1000	35	2	1037	2	PLAGL1	6	144263595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	187	144263595	26851472	7666	9812											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	259					0	0	1	0	0	C	144416556	T	C	144416556	3	2	22	1	0	0	0	0	1	0	0	0	14208	1696	59	3	185	3	SF3B5	6	144416556	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	152961	144416556	26698511	7667	9813											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				47	190					0	0	1	0	0	T	144508031	C	T	144508031	2	4	22	1	0	0	0	0	0	0	0	1	15393	874	31	1		1	STX11	6	144508031	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91475	144508031	26607036	7668	9814											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	277					0	0	1	0	0	A	144758737	G	A	144758737	3	1	22	1	0	0	0	0	1	0	0	0	17163	1377	48	2	1134	2	UTRN	6	144758737	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	250706	144758737	26356330	7669	9815											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	278					0	0	1	0	0	A	144758755	G	A	144758755	3	1	22	1	0	0	0	0	1	0	0	0	17163	1203	42	2	1152	2	UTRN	6	144758755	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18	144758755	26356312	7670	9816											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	116					0	0	1	0	0	T	144768443	C	T	144768443	4	4	22	1	0	0	0	0	0	1	0	0	17163	876	31	1	1765	1	UTRN	6	144768443	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9688	144768443	26346624	7671	9817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	208					0	0	1	0	0	A	144780066	G	A	144780066	2	1	22	1	0	0	0	0	0	0	0	1	17163	933	33	2		2	UTRN	6	144780066	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11623	144780066	26335001	7672	9818											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	267					3.86002e-21	4.34116e-21	1	1	0	A	145075930	C	A	145075930	2	1	22	1	0	0	0	0	0	0	0	1	17163	900	32	2		2	UTRN	6	145075930	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	295864	145075930	26039137	7673	9819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	911					0	0	1	0	0	C	146126966	A	C	146126966	3	2	22	1	0	0	0	0	1	0	0	0	5773	40	2	3	1669	3	FBXO30	6	146126966	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1051036	146126966	24988101	7674	9820											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438092.2_Missense_Mutation_p.A1618T|SHPRH_ENST00000275233.7_Missense_Mutation_p.A1614T|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													43	184					0	0	1	0	0	T	146214385	C	T	146214385	3	4	22	1	0	0	0	0	1	0	0	0	14346	739	26	2	240	2	SHPRH	6	146214385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87419	146214385	24900682	7675	9821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438092.2_Silent_p.T1601T|SHPRH_ENST00000275233.7_Silent_p.T1597T|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													39	168					0	0	1	0	0	G	146214434	A	G	146214434	2	3	22	1	0	0	0	0	0	0	0	1	14346	291	11	3		3	SHPRH	6	146214434	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49	146214434	24900633	7676	9822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438092.2_Missense_Mutation_p.K586Q|SHPRH_ENST00000275233.7_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													152	636					0	0	1	0	0	G	146264761	T	G	146264761	3	3	22	1	0	0	0	0	1	0	0	0	14346	1850	64	3	3427	3	SHPRH	6	146264761	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	50327	146264761	24850306	7677	9823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438092.2_Missense_Mutation_p.G190W|SHPRH_ENST00000275233.7_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													71	349					6.00099e-30	7.02477e-30	1	1	0	A	146275891	C	A	146275891	3	1	22	1	0	0	0	0	1	0	0	0	14346	623	22	2	4643	2	SHPRH	6	146275891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11130	146275891	24839176	7678	9824											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000282753.1_Missense_Mutation_p.G43V|GRM1_ENST00000507907.1_Missense_Mutation_p.G43V|GRM1_ENST00000355289.4_Missense_Mutation_p.G43V|GRM1_ENST00000492807.2_Missense_Mutation_p.G43V|GRM1_ENST00000361719.2_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													138	607					6.25873e-39	7.55585e-39	1	1	0	T	146350781	G	T	146350781	3	4	22	1	0	0	0	0	1	0	0	0	6837	1174	41	2	130	2	GRM1	6	146350781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74890	146350781	24764286	7679	9825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000282753.1_Missense_Mutation_p.G337R|GRM1_ENST00000507907.1_Missense_Mutation_p.G337R|GRM1_ENST00000355289.4_Missense_Mutation_p.G337R|GRM1_ENST00000492807.2_Missense_Mutation_p.G337R|GRM1_ENST00000361719.2_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													24	151					0	0	1	0	0	A	146625805	G	A	146625805	3	1	22	1	0	0	0	0	1	0	0	0	6837	1233	43	2	1019	2	GRM1	6	146625805	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275024	146625805	24489262	7680	9826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000282753.1_Silent_p.D493D|GRM1_ENST00000507907.1_Silent_p.D493D|GRM1_ENST00000355289.4_Silent_p.D493D|GRM1_ENST00000492807.2_Silent_p.D493D|GRM1_ENST00000361719.2_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													68	288					0	0	1	0	0	T	146678707	C	T	146678707	2	4	22	1	0	0	0	0	0	0	0	1	6837	564	20	2		2	GRM1	6	146678707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52902	146678707	24436360	7681	9827											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000282753.1_Missense_Mutation_p.V855G|GRM1_ENST00000507907.1_Missense_Mutation_p.V855G|GRM1_ENST00000355289.4_Missense_Mutation_p.V855G|GRM1_ENST00000492807.2_Missense_Mutation_p.V855G|GRM1_ENST00000361719.2_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													54	216					0	0	1	0	0	G	146720739	T	G	146720739	3	3	22	1	0	0	0	0	1	0	0	0	6837	1725	60	3	2590	3	GRM1	6	146720739	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42032	146720739	24394328	7682	9828											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000282753.1_Missense_Mutation_p.L873F|GRM1_ENST00000507907.1_Missense_Mutation_p.L873F|GRM1_ENST00000355289.4_Missense_Mutation_p.L873F|GRM1_ENST00000492807.2_Missense_Mutation_p.L873F|GRM1_ENST00000361719.2_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													25	139					0	0	1	0	0	T	146720792	C	T	146720792	3	4	22	1	0	0	0	0	1	0	0	0	6837	681	24	2	2643	2	GRM1	6	146720792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53	146720792	24394275	7683	9829											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	78					0	0	1	0	0	A	146865053	G	A	146865053	3	1	22	1	0	0	0	0	1	0	0	0	12973	1087	38	1	48	1	RAB32	6	146865053	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144261	146865053	24250014	7684	9830											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000546097.1_Missense_Mutation_p.H123R|STXBP5_ENST00000367480.3_Missense_Mutation_p.H123R|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000321680.6_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													70	248					0	0	1	0	0	G	147560343	A	G	147560343	3	3	22	1	0	0	0	0	1	0	0	0	15412	159	6	3	382	3	STXBP5	6	147560343	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	695290	147560343	23554724	7685	9831											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000546097.1_Missense_Mutation_p.V171A|STXBP5_ENST00000367480.3_Missense_Mutation_p.V171A|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000321680.6_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													73	308					0	0	1	0	0	C	147581831	T	C	147581831	3	2	22	1	0	0	0	0	1	0	0	0	15412	1696	59	3	530	3	STXBP5	6	147581831	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21488	147581831	23533236	7686	9832											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367480.3_Missense_Mutation_p.D377N|STXBP5_ENST00000179882.6_Missense_Mutation_p.D48N|STXBP5_ENST00000321680.6_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													31	161					0	0	1	0	0	A	147632647	G	A	147632647	3	1	22	1	0	0	0	0	1	0	0	0	15412	942	33	2	1171	2	STXBP5	6	147632647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50816	147632647	23482420	7687	9833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367480.3_Missense_Mutation_p.L516M|STXBP5_ENST00000179882.6_Missense_Mutation_p.L187M|STXBP5_ENST00000321680.6_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													102	428					3.80994e-63	4.80671e-63	1	1	0	A	147636794	C	A	147636794	3	1	22	1	0	0	0	0	1	0	0	0	15412	796	28	2	1604	2	STXBP5	6	147636794	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4147	147636794	23478273	7688	9834											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367480.3_Missense_Mutation_p.L776P|STXBP5_ENST00000179882.6_Missense_Mutation_p.L484P|STXBP5_ENST00000321680.6_Missense_Mutation_p.L829P	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													48	344					0	0	1	0	0	C	147680400	T	C	147680400	3	2	22	1	0	0	0	0	1	0	0	0	15412	1580	55	3	2576	3	STXBP5	6	147680400	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43606	147680400	23434667	7689	9835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367480.3_Missense_Mutation_p.T797I|STXBP5_ENST00000179882.6_Missense_Mutation_p.T505I|STXBP5_ENST00000321680.6_Missense_Mutation_p.T850I	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													37	160					0	0	1	0	0	T	147684474	C	T	147684474	3	4	22	1	0	0	0	0	1	0	0	0	15412	565	20	2	2643	2	STXBP5	6	147684474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4074	147684474	23430593	7690	9836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367480.3_Missense_Mutation_p.P983L|STXBP5_ENST00000179882.6_Missense_Mutation_p.P691L|STXBP5_ENST00000321680.6_Missense_Mutation_p.P1036L	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													53	260					0	0	1	0	0	T	147694892	C	T	147694892	3	4	22	1	0	0	0	0	1	0	0	0	15412	681	24	2	3209	2	STXBP5	6	147694892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10418	147694892	23420175	7691	9837											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	534					0	0	1	0	0	G	148808758	A	G	148808758	2	3	22	1	0	0	0	0	0	0	0	1	13901	98	4	3		3	SASH1	6	148808758	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1113866	148808758	22306309	7692	9838											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	274					5.3912e-06	5.54037e-06	1	1	0	A	148852683	C	A	148852683	3	1	22	1	0	0	0	0	1	0	0	0	13901	739	26	2	1500	2	SASH1	6	148852683	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43925	148852683	22262384	7693	9839											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	215					1.99824e-07	2.07512e-07	1	1	0	A	148852764	C	A	148852764	3	1	22	1	0	0	0	0	1	0	0	0	13901	913	32	2	1581	2	SASH1	6	148852764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81	148852764	22262303	7694	9840											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													236	1042					0	0	1	0	0	T	148865211	C	T	148865211	3	4	22	1	0	0	0	0	1	0	0	0	13901	739	26	2	2675	2	SASH1	6	148865211	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12447	148865211	22249856	7695	9841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	46					4.84862e-15	5.28562e-15	1	1	0	A	148865907	C	A	148865907	3	1	22	1	0	0	0	0	1	0	0	0	13901	796	28	2	3371	2	SASH1	6	148865907	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	696	148865907	22249160	7696	9842											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538427.1_Missense_Mutation_p.P264H|TAB2_ENST00000286332.5_Missense_Mutation_p.P264H|TAB2_ENST00000392282.1_Missense_Mutation_p.P264H|TAB2_ENST00000536230.1_Missense_Mutation_p.P232H			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													134	643					2.98534e-63	3.76712e-63	1	1	0	A	149699842	C	A	149699842	3	1	22	1	0	0	0	0	1	0	0	0	15553	681	24	2	797	2	TAB2	6	149699842	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	833935	149699842	21415225	7697	9843											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	430					0	0	1	0	0	T	149982884	C	T	149982884	3	4	22	1	0	0	0	0	1	0	0	0	8685	768	27	1	22	1	LATS1	6	149982884	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	283042	149982884	21132183	7698	9844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367380.5_Silent_p.D118D|PCMT1_ENST00000367384.2_Silent_p.D176D|PCMT1_ENST00000544496.1_Silent_p.D83D|PCMT1_ENST00000367378.1_Silent_p.D176D					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													47	212					0	0	1	0	0	T	150114741	C	T	150114741	2	4	22	1	0	0	0	0	0	0	0	1	11632	564	20	2		2	PCMT1	6	150114741	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131857	150114741	21000326	7699	9845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	480					0	0	1	0	0	C	150343282	A	C	150343282	3	2	22	1	0	0	0	0	1	0	0	0	13053	243	9	3	568	3	RAET1L	6	150343282	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	228541	150343282	20771785	7700	9846											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000425615.3_Silent_p.V154V|IYD_ENST00000229447.5_Silent_p.V209V|IYD_ENST00000500320.3_Silent_p.V209V|IYD_ENST00000392255.3_Silent_p.V209V|IYD_ENST00000392256.2_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													60	337					0	0	1	0	0	T	150715331	C	T	150715331	2	4	22	1	0	0	0	0	0	0	0	1	7976	842	30	2		2	IYD	6	150715331	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	372049	150715331	20399736	7701	9847											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	248					0	0	1	0	0	A	151125824	G	A	151125824	3	1	22	1	0	0	0	0	1	0	0	0	12116	1087	38	1	881	1	PLEKHG1	6	151125824	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	410493	151125824	19989243	7702	9848											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151139352C>T	ENST00000367328.1	+	12	1624	c.1312_splice	c.e12+1	p.H438_splice	PLEKHG1_ENST00000358517.2_Splice_Site_p.H438_splice	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													50	324					0	0	1	0	0	T	151139352	C	T	151139352	5	4	22	1	0	0	0	0	0	0	1	0	12116	898	31	1	1350	1	PLEKHG1	6	151139352	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13528	151139352	19975715	7703	9849											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	162					8.16721e-17	8.9905e-17	1	1	0	T	151144795	G	T	151144795	3	4	22	1	0	0	0	0	1	0	0	0	12116	971	34	2	1503	2	PLEKHG1	6	151144795	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5443	151144795	19970272	7704	9850											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	410					1.30681e-28	1.52204e-28	1	1	0	T	151161984	G	T	151161984	3	4	22	1	0	0	0	0	1	0	0	0	12116	1020	36	2	4168	2	PLEKHG1	6	151161984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17189	151161984	19953083	7705	9851											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	166					0	0	1	0	0	A	151281474	G	A	151281474	3	1	22	1	0	0	0	0	1	0	0	0	9976	1087	38	1	1937	1	MTHFD1L	6	151281474	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119490	151281474	19833593	7706	9852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	208					0	0	1	0	0	A	151671445	G	A	151671445	3	1	22	1	0	0	0	0	1	0	0	0	445	971	34	2	1958	2	AKAP12	6	151671445	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	389971	151671445	19443622	7707	9853											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													151	755					0	0	1	0	0	A	151672017	G	A	151672017	3	1	22	1	0	0	0	0	1	0	0	0	445	1087	38	1	2530	1	AKAP12	6	151672017	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	572	151672017	19443050	7708	9854											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	234					0	0	1	0	0	A	151672727	G	A	151672727	2	1	22	1	0	0	0	0	0	0	0	1	445	962	34	2		2	AKAP12	6	151672727	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	710	151672727	19442340	7709	9855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	392					0	0	1	0	0	A	151687214	G	A	151687214	2	1	22	1	0	0	0	0	0	0	0	1	17587	1048	37	1		1	ZBTB2	6	151687214	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14487	151687214	19427853	7710	9856											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	277					3.21987e-24	3.67739e-24	1	1	0	A	151687588	C	A	151687588	4	1	22	1	0	0	0	0	0	1	0	0	17587	922	32	2	935	2	ZBTB2	6	151687588	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	374	151687588	19427479	7711	9857											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	274					3.56336e-21	4.00806e-21	1	1	0	T	151766865	G	T	151766865	3	4	22	1	0	0	0	0	1	0	0	0	13448	933	33	2	1311	2	RMND1	6	151766865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79277	151766865	19348202	7712	9858											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443427.1_Missense_Mutation_p.R477L|ESR1_ENST00000206249.3_Missense_Mutation_p.R477L|ESR1_ENST00000544394.1_Intron|ESR1_ENST00000406599.1_Missense_Mutation_p.R216L|ESR1_ENST00000338799.5_Missense_Mutation_p.R477L|ESR1_ENST00000456483.2_Missense_Mutation_p.R365L	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													103	475					1.72158e-54	2.14916e-54	1	1	0	T	152415580	G	T	152415580	3	4	22	1	0	0	0	0	1	0	0	0	5284	1058	37	4	1456	4	ESR1	6	152415580	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	648715	152415580	18699487	7713	9859											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Missense_Mutation_p.A8449T|SYNE1_ENST00000539504.1_Missense_Mutation_p.A652T|SYNE1_ENST00000354674.4_Missense_Mutation_p.A675T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A8449T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A8109T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A8497T|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.A3021T	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)			66	349					0	0	1	0	0	T	152457923	C	T	152457923	3	4	22	1	0	0	0	0	1	0	0	0	15502	797	28	2	928	2	SYNE1	6	152457923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42343	152457923	18657144	7714	9860											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Missense_Mutation_p.T8362I|SYNE1_ENST00000539504.1_Missense_Mutation_p.T565I|SYNE1_ENST00000354674.4_Missense_Mutation_p.T588I|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8362I|SYNE1_ENST00000341594.5_Missense_Mutation_p.T8022I|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8410I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2934I	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)			96	491					0	0	1	0	0	A	152462355	G	A	152462355	3	1	22	1	0	0	0	0	1	0	0	0	15502	1261	44	2	1196	2	SYNE1	6	152462355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4432	152462355	18652712	7715	9861											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539504.1_Intron|SYNE1_ENST00000367255.5_Intron|SYNE1_ENST00000354674.4_Missense_Mutation_p.P488H|SYNE1_ENST00000423061.1_Missense_Mutation_p.P8262H|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Intron			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)			60	207					5.82218e-30	6.81768e-30	1	1	0	T	152466669	G	T	152466669	3	4	22	1	0	0	0	0	1	0	0	0	15502	1000	35	2	1504	2	SYNE1	6	152466669	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4314	152466669	18648398	7716	9862											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Silent_p.I7923I|SYNE1_ENST00000539504.1_Silent_p.I149I|SYNE1_ENST00000354674.4_Silent_p.I149I|SYNE1_ENST00000423061.1_Silent_p.I7923I|SYNE1_ENST00000341594.5_Silent_p.I7606I|SYNE1_ENST00000265368.4_Silent_p.I7994I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Silent_p.I2518I	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)			24	501					0	0	1	0	0	A	152476174	G	A	152476174	2	1	22	1	0	0	0	0	0	0	0	1	15502	1048	37	1		1	SYNE1	6	152476174	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9505	152476174	18638893	7717	9863											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Missense_Mutation_p.L7876I|SYNE1_ENST00000539504.1_Missense_Mutation_p.L102I|SYNE1_ENST00000354674.4_Missense_Mutation_p.L102I|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7876I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L7559I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L7947I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2471I	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)			65	299					4.80186e-42	5.84129e-42	1	1	0	T	152477184	G	T	152477184	3	4	22	1	0	0	0	0	1	0	0	0	15502	1000	35	2	2687	2	SYNE1	6	152477184	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1010	152477184	18637883	7718	9864											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Missense_Mutation_p.V7814I|SYNE1_ENST00000539504.1_Missense_Mutation_p.V40I|SYNE1_ENST00000354674.4_Missense_Mutation_p.V40I|SYNE1_ENST00000423061.1_Missense_Mutation_p.V7814I|SYNE1_ENST00000341594.5_Missense_Mutation_p.V7497I|SYNE1_ENST00000265368.4_Missense_Mutation_p.V7885I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.V2409I	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)			89	348					0	0	1	0	0	T	152485435	C	T	152485435	3	4	22	1	0	0	0	0	1	0	0	0	15502	507	18	2	2877	2	SYNE1	6	152485435	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8251	152485435	18629632	7719	9865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Missense_Mutation_p.S7776I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S7776I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S7459I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7847I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.S2371I	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)			166	893					2.36154e-73	3.00618e-73	1	1	0	A	152497616	C	A	152497616	3	1	22	1	0	0	0	0	1	0	0	0	15502	797	28	2	2994	2	SYNE1	6	152497616	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12181	152497616	18617451	7720	9866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Missense_Mutation_p.S6256I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6256I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S5939I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6327I|SYNE1_ENST00000356820.4_Missense_Mutation_p.S851I	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)			32	419					1.76533e-06	1.82138e-06	1	1	0	A	152577893	C	A	152577893	3	1	22	1	0	0	0	0	1	0	0	0	15502	797	28	2	7666	2	SYNE1	6	152577893	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80277	152577893	18537174	7721	9867											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Missense_Mutation_p.L5317I|SYNE1_ENST00000423061.1_Missense_Mutation_p.L5317I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L5061I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L5388I	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)			38	172					4.92203e-23	5.5867e-23	1	1	0	T	152642447	G	T	152642447	3	4	22	1	0	0	0	0	1	0	0	0	15502	942	33	2	10556	2	SYNE1	6	152642447	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64554	152642447	18472620	7722	9868											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Missense_Mutation_p.G4996S|SYNE1_ENST00000423061.1_Missense_Mutation_p.G4996S|SYNE1_ENST00000341594.5_Missense_Mutation_p.G4814S|SYNE1_ENST00000265368.4_Missense_Mutation_p.G5067S	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)			74	288					0	0	1	0	0	T	152647525	C	T	152647525	3	4	22	1	0	0	0	0	1	0	0	0	15502	652	23	1	11539	1	SYNE1	6	152647525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5078	152647525	18467542	7723	9869											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Missense_Mutation_p.S4492Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4492Y|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4563Y	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)			177	772					2.0106e-78	2.56814e-78	1	1	0	T	152652132	G	T	152652132	3	4	22	1	0	0	0	0	1	0	0	0	15502	942	33	2	13054	2	SYNE1	6	152652132	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4607	152652132	18462935	7724	9870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Silent_p.S4382S|SYNE1_ENST00000423061.1_Silent_p.S4382S|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Silent_p.S4453S	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)			43	266					0	0	1	0	0	A	152652461	G	A	152652461	2	1	22	1	0	0	0	0	0	0	0	1	15502	1103	39	1		1	SYNE1	6	152652461	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	329	152652461	18462606	7725	9871											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Missense_Mutation_p.S4367G|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4367G|SYNE1_ENST00000341594.5_Missense_Mutation_p.S4303G|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4438G	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)			72	292					0	0	1	0	0	C	152652508	T	C	152652508	3	2	22	1	0	0	0	0	1	0	0	0	15502	1580	55	3	13430	3	SYNE1	6	152652508	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47	152652508	18462559	7726	9872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Silent_p.V4052V|SYNE1_ENST00000423061.1_Silent_p.V4052V|SYNE1_ENST00000341594.5_Silent_p.V3988V|SYNE1_ENST00000265368.4_Silent_p.V4123V	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)			32	152					0	0	1	0	0	A	152658135	G	A	152658135	2	1	22	1	0	0	0	0	0	0	0	1	15502	1161	41	2		2	SYNE1	6	152658135	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5627	152658135	18456932	7727	9873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Silent_p.H3825H|SYNE1_ENST00000423061.1_Silent_p.H3825H|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Silent_p.H3840H	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)			15	598					0	0	1	0	0	G	152673222	A	G	152673222	2	3	22	1	0	0	0	0	0	0	0	1	15502	214	8	3		3	SYNE1	6	152673222	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15087	152673222	18441845	7728	9874											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Missense_Mutation_p.A3578V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3578V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3542V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3571V	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)			150	681					0	0	1	0	0	A	152676008	G	A	152676008	3	1	22	1	0	0	0	0	1	0	0	0	15502	971	34	2	16074	2	SYNE1	6	152676008	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2786	152676008	18439059	7729	9875											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Missense_Mutation_p.R3424M|SYNE1_ENST00000423061.1_Missense_Mutation_p.R3424M|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.R3417M	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)			63	303					9.40535e-28	1.0908e-27	1	1	0	A	152683354	C	A	152683354	3	1	22	1	0	0	0	0	1	0	0	0	15502	681	24	2	16548	2	SYNE1	6	152683354	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7346	152683354	18431713	7730	9876											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Missense_Mutation_p.A3147V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3147V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3179V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3140V	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)			171	670					0	0	1	0	0	A	152694260	G	A	152694260	3	1	22	1	0	0	0	0	1	0	0	0	15502	1087	38	1	17399	1	SYNE1	6	152694260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10906	152694260	18420807	7731	9877											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Nonsense_Mutation_p.R3077*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R3077*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R3109*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R3070*	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)			45	235					0	0	1	0	0	A	152697632	G	A	152697632	4	1	22	1	0	0	0	0	0	1	0	0	15502	1066	37	1	17614	1	SYNE1	6	152697632	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3372	152697632	18417435	7732	9878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Missense_Mutation_p.E2858K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2858K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2890K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2851K	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)			98	534					0	0	1	0	0	T	152706910	C	T	152706910	3	4	22	1	0	0	0	0	1	0	0	0	15502	893	31	1	18283	1	SYNE1	6	152706910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9278	152706910	18408157	7733	9879											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Silent_p.I1946I|SYNE1_ENST00000423061.1_Silent_p.I1946I|SYNE1_ENST00000341594.5_Silent_p.I1976I|SYNE1_ENST00000265368.4_Silent_p.I1939I	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)			89	444					0	0	1	0	0	A	152737755	G	A	152737755	2	1	22	1	0	0	0	0	0	0	0	1	15502	1048	37	1		1	SYNE1	6	152737755	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30845	152737755	18377312	7734	9880											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Missense_Mutation_p.A1863T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1863T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1893T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1856T	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)			90	351					0	0	1	0	0	T	152738006	C	T	152738006	3	4	22	1	0	0	0	0	1	0	0	0	15502	739	26	2	21324	2	SYNE1	6	152738006	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	251	152738006	18377061	7735	9881											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Missense_Mutation_p.W1664C|SYNE1_ENST00000423061.1_Missense_Mutation_p.W1664C|SYNE1_ENST00000367253.4_Missense_Mutation_p.W1657C|SYNE1_ENST00000341594.5_Missense_Mutation_p.W1727C|SYNE1_ENST00000265368.4_Missense_Mutation_p.W1657C	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)			223	1345					3.95597e-38	4.76283e-38	1	1	0	A	152749345	C	A	152749345	3	1	22	1	0	0	0	0	1	0	0	0	15502	740	26	2	21935	2	SYNE1	6	152749345	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11339	152749345	18365722	7736	9882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Missense_Mutation_p.R1649M|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1649M|SYNE1_ENST00000367253.4_Missense_Mutation_p.R1642M|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1712M|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1642M	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)			30	1380					5.35267e-07	5.54261e-07	1	1	0	A	152749391	C	A	152749391	3	1	22	1	0	0	0	0	1	0	0	0	15502	681	24	2	21981	2	SYNE1	6	152749391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46	152749391	18365676	7737	9883											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Silent_p.P1414P|SYNE1_ENST00000423061.1_Silent_p.P1414P|SYNE1_ENST00000367253.4_Silent_p.P1407P|SYNE1_ENST00000341594.5_Silent_p.P1473P|SYNE1_ENST00000265368.4_Silent_p.P1407P|SYNE1_ENST00000413186.2_Silent_p.P1407P|SYNE1_ENST00000367248.3_Silent_p.P1397P	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)			15	408					0	0	1	0	0	T	152757165	C	T	152757165	2	4	22	1	0	0	0	0	0	0	0	1	15502	755	27	1		1	SYNE1	6	152757165	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7774	152757165	18357902	7738	9884											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Missense_Mutation_p.Q907H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q907H|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q900H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D952Y|SYNE1_ENST00000495090.2_Missense_Mutation_p.Q467H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q900H|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q900H|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q890H	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)			41	370					1.07121e-22	1.21384e-22	1	1	0	A	152777048	C	A	152777048	3	1	22	1	0	0	0	0	1	0	0	0	15502	912	32	2	24262	2	SYNE1	6	152777048	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19883	152777048	18338019	7739	9885											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	502					0	0	1	0	0	G	153296625	A	G	153296625	2	3	22	1	0	0	0	0	0	0	0	1	5791	11	1	3		3	FBXO5	6	153296625	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	519577	153296625	17818442	7740	9886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	299					0	0	1	0	0	C	153296711	T	C	153296711	3	2	22	1	0	0	0	0	1	0	0	0	5791	1435	50	3	1210	3	FBXO5	6	153296711	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	86	153296711	17818356	7741	9887											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367230.1_Silent_p.R177R|MTRF1L_ENST00000367231.5_Silent_p.R213R	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													97	432					0	0	1	0	0	A	153315696	G	A	153315696	2	1	22	1	0	0	0	0	0	0	0	1	10008	1074	38	1		1	MTRF1L	6	153315696	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18985	153315696	17799371	7742	9888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	504					0	0	1	0	0	T	153347642	C	T	153347642	2	4	22	1	0	0	0	0	0	0	0	1	13349	639	23	1		1	RGS17	6	153347642	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31946	153347642	17767425	7743	9889											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	591					0	0	1	0	0	C	153365061	A	C	153365061	3	2	22	1	0	0	0	0	1	0	0	0	13349	41	2	3	555	3	RGS17	6	153365061	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17419	153365061	17750006	7744	9890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000522236.1_Missense_Mutation_p.W128C|OPRM1_ENST00000452687.2_Missense_Mutation_p.W228C|OPRM1_ENST00000428397.2_Missense_Mutation_p.W228C|OPRM1_ENST00000524163.1_Missense_Mutation_p.W228C|OPRM1_ENST00000435918.2_Missense_Mutation_p.W228C|OPRM1_ENST00000434900.2_Missense_Mutation_p.W321C|OPRM1_ENST00000518759.1_Missense_Mutation_p.W147C|OPRM1_ENST00000337049.4_Missense_Mutation_p.W228C|OPRM1_ENST00000419506.2_Missense_Mutation_p.W228C|OPRM1_ENST00000522555.1_Missense_Mutation_p.W128C|OPRM1_ENST00000229768.5_Missense_Mutation_p.W228C|OPRM1_ENST00000330432.7_Missense_Mutation_p.W228C|OPRM1_ENST00000520708.1_Missense_Mutation_p.W128C|OPRM1_ENST00000360422.4_Missense_Mutation_p.W228C	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													117	570					1.81975e-59	2.28519e-59	1	1	0	T	154412127	G	T	154412127	3	4	22	1	0	0	0	0	1	0	0	0	10935	1270	44	2	1028	2	OPRM1	6	154412127	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1047066	154412127	16702940	7745	9891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	531					0	0	1	0	0	T	154727608	C	T	154727608	2	4	22	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	7746	9892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:154743640C>A	ENST00000607772.1	-	9	1489	c.945_splice	c.e9+1	p.Q315_splice	CNKSR3_ENST00000433165.2_Splice_Site_p.Q140_splice|CNKSR3_ENST00000479339.1_Splice_Site_p.Q235_splice	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													118	475					2.44049e-67	3.09122e-67	1	1	0	A	154743640	C	A	154743640	5	1	22	1	0	0	0	0	0	0	1	0	3631	695	24	2	742	2	CNKSR3	6	154743640	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16032	154743640	16371427	7747	9893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.E580D|TIAM2_ENST00000360366.4_Missense_Mutation_p.E580D|TIAM2_ENST00000318981.5_Missense_Mutation_p.E580D|TIAM2_ENST00000456144.1_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													10	477					7.48243e-07	7.73841e-07	1	1	0	T	155465849	G	T	155465849	3	4	22	1	0	0	0	0	1	0	0	0	15951	962	34	2	1750	2	TIAM2	6	155465849	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	722209	155465849	15649218	7748	9894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367174.2_Silent_p.S698S|TIAM2_ENST00000456877.2_Silent_p.S634S|TIAM2_ENST00000528391.2_Silent_p.S658S|TIAM2_ENST00000529824.2_Silent_p.S1351S|TIAM2_ENST00000360366.4_Silent_p.S1346S|TIAM2_ENST00000275246.7_Silent_p.S247S|TIAM2_ENST00000318981.5_Silent_p.S1322S|TIAM2_ENST00000456144.1_Silent_p.S1351S			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													113	496					0	0	1	0	0	A	155572061	G	A	155572061	2	1	22	1	0	0	0	0	0	0	0	1	15951	1045	37	1		1	TIAM2	6	155572061	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106212	155572061	15543006	7749	9895											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	284					0	0	1	0	0	A	155752006	G	A	155752006	4	1	22	1	0	0	0	0	0	1	0	0	10604	1095	38	1	868	1	NOX3	6	155752006	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	179945	155752006	15363061	7750	9896											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367148.1_Missense_Mutation_p.P1014L|ARID1B_ENST00000350026.5_Missense_Mutation_p.P1014L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P956L|ARID1B_ENST00000478761.1_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													34	250					0	0	1	0	0	T	157495196	C	T	157495196	3	4	22	1	0	0	0	0	1	0	0	0	911	681	24	2	3122	2	ARID1B	6	157495196	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1743190	157495196	13619871	7751	9897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367148.1_Missense_Mutation_p.P1223T|ARID1B_ENST00000350026.5_Missense_Mutation_p.P1170T|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													37	183					1.90571e-15	2.08261e-15	1	1	0	A	157505566	C	A	157505566	3	1	22	1	0	0	0	0	1	0	0	0	911	855	30	2	3597	2	ARID1B	6	157505566	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10370	157505566	13609501	7752	9898											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367148.1_Silent_p.S1550S|ARID1B_ENST00000350026.5_Silent_p.S1497S|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													106	480					0	0	1	0	0	T	157522258	C	T	157522258	2	4	22	1	0	0	0	0	0	0	0	1	911	738	26	2		2	ARID1B	6	157522258	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16692	157522258	13592809	7753	9899											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367148.1_Missense_Mutation_p.W1677R|ARID1B_ENST00000350026.5_Missense_Mutation_p.W1624R|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													434	1776					0	0	1	0	0	C	157525014	T	C	157525014	3	2	22	1	0	0	0	0	1	0	0	0	911	1696	59	3	4983	3	ARID1B	6	157525014	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2756	157525014	13590053	7754	9900											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367148.1_Missense_Mutation_p.W2053R|ARID1B_ENST00000350026.5_Missense_Mutation_p.W2000R|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													66	326					0	0	1	0	0	C	157528312	T	C	157528312	3	2	22	1	0	0	0	0	1	0	0	0	911	1696	59	3	6115	3	ARID1B	6	157528312	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3298	157528312	13586755	7755	9901											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158349734C>T	ENST00000392185.3	+	12	1459	c.1288_splice	c.e12+1	p.P430_splice		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													13	60					0	0	1	0	0	T	158349734	C	T	158349734	5	4	22	1	0	0	0	0	0	0	1	0	14963	666	23	1	1334	1	SNX9	6	158349734	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	821422	158349734	12765333	7756	9902											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	327					0	0	1	0	0	T	158495692	C	T	158495692	2	4	22	1	0	0	0	0	0	0	0	1	15510	900	32	2		2	SYNJ2	6	158495692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145958	158495692	12619375	7757	9903											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367112.1_Missense_Mutation_p.A359V|SYNJ2_ENST00000367122.2_Missense_Mutation_p.A1229V	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													89	378					0	0	1	0	0	T	158516726	C	T	158516726	3	4	22	1	0	0	0	0	1	0	0	0	15510	739	26	2	3927	2	SYNJ2	6	158516726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21034	158516726	12598341	7758	9904											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	468					0	0	1	0	0	A	158549279	G	A	158549279	2	1	22	1	0	0	0	0	0	0	0	1	14128	1048	37	1		1	SERAC1	6	158549279	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32553	158549279	12565788	7759	9905											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	275					2.92391e-54	3.64956e-54	1	1	0	A	158564142	C	A	158564142	3	1	22	1	0	0	0	0	1	0	0	0	14128	564	20	2	1320	2	SERAC1	6	158564142	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14863	158564142	12550925	7760	9906											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000607000.1_Missense_Mutation_p.R114Q|SERAC1_ENST00000367101.1_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													30	150					0	0	1	0	0	T	158569911	C	T	158569911	3	4	22	1	0	0	0	0	1	0	0	0	14128	652	23	1	1675	1	SERAC1	6	158569911	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5769	158569911	12545156	7761	9907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000607000.1_Missense_Mutation_p.A5T|SERAC1_ENST00000367101.1_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													56	279					0	0	1	0	0	T	158579383	C	T	158579383	3	4	22	1	0	0	0	0	1	0	0	0	14128	710	25	2	2015	2	SERAC1	6	158579383	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9472	158579383	12535684	7762	9908											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	217					0	0	1	0	0	A	158735144	G	A	158735144	2	1	22	1	0	0	0	0	0	0	0	1	16838	933	33	2		2	TULP4	6	158735144	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155761	158735144	12379923	7763	9909											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	370					0	0	1	0	0	T	158870179	C	T	158870179	3	4	22	1	0	0	0	0	1	0	0	0	16838	536	19	1	709	1	TULP4	6	158870179	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135035	158870179	12244888	7764	9910											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	324					0	0	1	0	0	T	158900854	C	T	158900854	2	4	22	1	0	0	0	0	0	0	0	1	16838	547	19	1		1	TULP4	6	158900854	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30675	158900854	12214213	7765	9911											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	404					0	0	1	0	0	T	158923474	C	T	158923474	3	4	22	1	0	0	0	0	1	0	0	0	16838	797	28	2	2829	2	TULP4	6	158923474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22620	158923474	12191593	7766	9912											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367081.3_5'UTR|SYTL3_ENST00000360448.3_Silent_p.R15R			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													24	253					0	0	1	0	0	T	159084345	C	T	159084345	2	4	22	1	0	0	0	0	0	0	0	1	15541	755	27	1		1	SYTL3	6	159084345	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160871	159084345	12030722	7767	9913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367081.3_Silent_p.T127T|SYTL3_ENST00000360448.3_Silent_p.T333T			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													42	178					0	0	1	0	0	A	159178308	G	A	159178308	2	1	22	1	0	0	0	0	0	0	0	1	15541	1074	38	1		1	SYTL3	6	159178308	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93963	159178308	11936759	7768	9914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367081.3_Missense_Mutation_p.S149N|SYTL3_ENST00000360448.3_Missense_Mutation_p.S355N			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													24	358					0	0	1	0	0	A	159178373	G	A	159178373	3	1	22	1	0	0	0	0	1	0	0	0	15541	971	34	2	1098	2	SYTL3	6	159178373	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65	159178373	11936694	7769	9915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.S551L|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_054114.3	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													50	211					0	0	1	0	0	A	159456869	G	A	159456869	3	1	22	1	0	0	0	0	1	0	0	0	15594	1059	37	1	13	1	TAGAP	6	159456869	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278496	159456869	11658198	7770	9916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Nonsense_Mutation_p.R533*|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_054114.3	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													59	245					0	0	1	0	0	A	159456924	G	A	159456924	4	1	22	1	0	0	0	0	0	1	0	0	15594	1095	38	1	68	1	TAGAP	6	159456924	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55	159456924	11658143	7771	9917											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.P412H|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_054114.3	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													77	361					8.07507e-42	9.8197e-42	1	1	0	T	159457286	G	T	159457286	3	4	22	1	0	0	0	0	1	0	0	0	15594	1000	35	2	430	2	TAGAP	6	159457286	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	362	159457286	11657781	7772	9918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	154					9.14704e-12	9.77761e-12	1	1	0	T	159642721	G	T	159642721	3	4	22	1	0	0	0	0	1	0	0	0	6001	933	33	2	781	2	FNDC1	6	159642721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	185435	159642721	11472346	7773	9919											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	119					0	0	1	0	0	A	159644586	G	A	159644586	3	1	22	1	0	0	0	0	1	0	0	0	6001	1058	37	1	819	1	FNDC1	6	159644586	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1865	159644586	11470481	7774	9920											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	63					0	0	1	0	0	T	159647514	C	T	159647514	3	4	22	1	0	0	0	0	1	0	0	0	6001	478	17	2	1116	2	FNDC1	6	159647514	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2928	159647514	11467553	7775	9921											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	184					0	0	1	0	0	A	159653575	G	A	159653575	2	1	22	1	0	0	0	0	0	0	0	1	6001	1132	40	1		1	FNDC1	6	159653575	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6061	159653575	11461492	7776	9922											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	66					5.35356e-11	5.69577e-11	1	1	0	A	159654115	C	A	159654115	2	1	22	1	0	0	0	0	0	0	0	1	6001	610	22	2		2	FNDC1	6	159654115	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	540	159654115	11460952	7777	9923											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	41					0	0	1	0	0	A	159654596	G	A	159654596	3	1	22	1	0	0	0	0	1	0	0	0	6001	1233	43	2	3094	2	FNDC1	6	159654596	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	481	159654596	11460471	7778	9924											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	103					0	0	1	0	0	T	159672509	C	T	159672509	2	4	22	1	0	0	0	0	0	0	0	1	6001	747	26	2		2	FNDC1	6	159672509	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17913	159672509	11442558	7779	9925											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	228					0	0	1	0	0	A	159687142	G	A	159687142	3	1	22	1	0	0	0	0	1	0	0	0	6001	1087	38	1	5393	1	FNDC1	6	159687142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14633	159687142	11427925	7780	9926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Silent_p.G54G	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													6	260					0.217242	0.217458	1	1	0	A	160164713	C	A	160164713	2	1	22	1	0	0	0	0	0	0	0	1	17469	726	26	2		2	WTAP	6	160164713	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	477571	160164713	10950354	7781	9927											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160225117C>T	ENST00000275275.5	+	5	507	c.336C>T	c.(334-336)aaC>aaT	p.N112N	PNLDC1_ENST00000392167.3_Silent_p.N123N	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	112						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													34	679					0	0	1	0	0	T	160225117	C	T	160225117	2	4	22	1	0	0	0	0	0	0	0	1	12196	477	17	2		2	PNLDC1	6	160225117	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60404	160225117	10889950	7782	9928											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160238156C>T	ENST00000275275.5	+	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	366						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													44	460					0	0	1	0	0	T	160238156	C	T	160238156	3	4	22	1	0	0	0	0	1	0	0	0	12196	710	25	2	1151	2	PNLDC1	6	160238156	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13039	160238156	10876911	7783	9929											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160240289G>A	ENST00000275275.5	+	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	468						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													8	221					0	0	1	0	0	A	160240289	G	A	160240289	2	1	22	1	0	0	0	0	0	0	0	1	12196	1074	38	1		1	PNLDC1	6	160240289	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2133	160240289	10874778	7784	9930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000867.2	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													35	478					0	0	1	0	0	C	160455500	A	C	160455500	3	2	22	1	0	0	0	0	1	0	0	0	7620	188	7	3	1299	3	IGF2R	6	160455500	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	215211	160455500	10659567	7785	9931											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000867.2	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													81	412					0	0	1	0	0	T	160480049	C	T	160480049	3	4	22	1	0	0	0	0	1	0	0	0	7620	739	26	2	3096	2	IGF2R	6	160480049	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24549	160480049	10635018	7786	9932											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000867.2	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													24	663					0	0	1	0	0	G	160493851	A	G	160493851	3	3	22	1	0	0	0	0	1	0	0	0	7620	391	14	3	4755	3	IGF2R	6	160493851	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13802	160493851	10621216	7787	9933											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000867.2	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													22	229					0	0	1	0	0	A	160494321	G	A	160494321	2	1	22	1	0	0	0	0	0	0	0	1	7620	962	34	2		2	IGF2R	6	160494321	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	470	160494321	10620746	7788	9934											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000867.2	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													110	477					0	0	1	0	0	A	160497015	G	A	160497015	3	1	22	1	0	0	0	0	1	0	0	0	7620	942	33	2	5445	2	IGF2R	6	160497015	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2694	160497015	10618052	7789	9935											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	478					0	0	1	0	0	T	160679678	C	T	160679678	3	4	22	1	0	0	0	0	1	0	0	0	14506	536	19	1	1599	1	SLC22A2	6	160679678	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182663	160679678	10435389	7790	9936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	262					0	0	1	0	0	T	160831795	C	T	160831795	3	4	22	1	0	0	0	0	1	0	0	0	14510	875	31	1	910	1	SLC22A3	6	160831795	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152117	160831795	10283272	7791	9937											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													184	788					0	0	1	0	0	T	160858179	C	T	160858179	2	4	22	1	0	0	0	0	0	0	0	1	14510	842	30	2		2	SLC22A3	6	160858179	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26384	160858179	10256888	7792	9938	61	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													159	757					0	0	1	0	0	T	160858187	C	T	160858187	3	4	22	1	0	0	0	0	1	0	0	0	14510	768	27	1	1258	1	SLC22A3	6	160858187	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8	160858187	10256880	7793	9939	61	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000484276.1_Intron|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													35	260					0	0	1	0	0	A	160953597	G	A	160953597	3	1	22	1	0	0	0	0	1	0	0	0	8948	971	34	2	203	2	LPA	6	160953597	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95410	160953597	10161470	7794	9940											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	176					2.68985e-26	3.09749e-26	1	1	0	T	161012086	G	T	161012086	3	4	22	1	0	0	0	0	1	0	0	0	8948	1000	35	2	2513	2	LPA	6	161012086	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58489	161012086	10102981	7795	9941											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	455					0	0	1	0	0	A	161015074	G	A	161015074	3	1	22	1	0	0	0	0	1	0	0	0	8948	1261	44	2	2649	2	LPA	6	161015074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2988	161015074	10099993	7796	9942											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366919.2_Silent_p.Q536Q|MAP3K4_ENST00000366920.2_Silent_p.Q536Q|MAP3K4_ENST00000348824.7_Silent_p.Q536Q	NM_005922.2	NP_005913.2	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													73	316					0	0	1	0	0	A	161470912	G	A	161470912	2	1	22	1	0	0	0	0	0	0	0	1	9302	933	33	2		2	MAP3K4	6	161470912	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	455838	161470912	9644155	7797	9943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366919.2_Missense_Mutation_p.S773I|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S773I|MAP3K4_ENST00000348824.7_Missense_Mutation_p.S773I	NM_005922.2	NP_005913.2	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													15	352					7.93312e-07	8.20014e-07	1	1	0	T	161505595	G	T	161505595	3	4	22	1	0	0	0	0	1	0	0	0	9302	971	34	2	2344	2	MAP3K4	6	161505595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34683	161505595	9609472	7798	9944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366919.2_Missense_Mutation_p.R1156Q|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1152Q|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1152Q	NM_005922.2	NP_005913.2	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													60	277					0	0	1	0	0	A	161518151	G	A	161518151	3	1	22	1	0	0	0	0	1	0	0	0	9302	1058	37	1	3529	1	MAP3K4	6	161518151	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12556	161518151	9596916	7799	9945											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													156	801					0	0	1	0	0	C	161560502	T	C	161560502	3	2	22	1	0	0	0	0	1	0	0	0	386	1551	54	3	150	3	AGPAT4	6	161560502	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42351	161560502	9554565	7800	9946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366906.5_Missense_Mutation_p.R90C|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000366911.5_Missense_Mutation_p.S95L|AGPAT4_ENST00000457520.2_Intron	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													81	349					0	0	1	0	0	A	161575237	G	A	161575237	3	1	22	1	0	0	0	0	1	0	0	0	386	1058	37	1	706	1	AGPAT4	6	161575237	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14735	161575237	9539830	7801	9947											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366906.5_Intron|AGPAT4_ENST00000366908.5_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366911.5_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366905.3_Missense_Mutation_p.R47Q|AGPAT4_ENST00000457520.2_Missense_Mutation_p.R47Q	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													45	207					0	0	1	0	0	T	161653106	C	T	161653106	3	4	22	1	0	0	0	0	1	0	0	0	386	652	23	1	1028	1	AGPAT4	6	161653106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77869	161653106	9461961	7802	9948											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366892.1_Missense_Mutation_p.T240M|PARK2_ENST00000366894.1_Missense_Mutation_p.T49M|PARK2_ENST00000366896.1_Missense_Mutation_p.T91M|PARK2_ENST00000366897.1_Missense_Mutation_p.T212M|PARK2_ENST00000338468.3_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													59	207					0	0	1	0	0	A	162394349	G	A	162394349	3	1	22	1	0	0	0	0	1	0	0	0	11496	1145	40	1	706	1	PARK2	6	162394349	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	741243	162394349	8720718	7803	9949											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:162622162C>T	ENST00000366898.1	-	4	637		c.e4+1		PARK2_ENST00000366892.1_Splice_Site|PARK2_ENST00000366894.1_Splice_Site|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Splice_Site|PARK2_ENST00000338468.3_Intron	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													68	276					0	0	1	0	0	T	162622162	C	T	162622162	5	4	22	1	0	0	0	0	0	0	1	0	11496	521	18	2	898	2	PARK2	6	162622162	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227813	162622162	8492905	7804	9950											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	417					0	0	1	0	0	G	163510351	T	G	163510351	3	3	22	1	0	0	0	0	1	0	0	0	11417	1580	55	3	538	3	PACRG	6	163510351	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	888189	163510351	7604716	7805	9951											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453779.2_Silent_p.L31L|QKI_ENST00000392127.2_Silent_p.L31L|QKI_ENST00000361195.2_Silent_p.L31L|QKI_ENST00000424802.3_Silent_p.L31L|QKI_ENST00000275262.7_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													61	297					0	0	1	0	0	A	163836318	G	A	163836318	2	1	22	1	0	0	0	0	0	0	0	1	12925	1306	46	2		2	QKI	6	163836318	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	325967	163836318	7278749	7806	9952											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	368					0	0	1	0	0	T	165715084	C	T	165715084	3	4	22	1	0	0	0	0	1	0	0	0	2337	768	27	1	714	1	C6orf118	6	165715084	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1878766	165715084	5399983	7807	9953											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	414					0	0	1	0	0	T	165715502	C	T	165715502	2	4	22	1	0	0	0	0	0	0	0	1	2337	871	31	1		1	C6orf118	6	165715502	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	418	165715502	5399565	7808	9954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	315					0	0	1	0	0	A	165715758	G	A	165715758	1	1	22	1	0	0	0	0	0	0	0	0	2337	1145	40	1		1	C6orf118	6	165715758	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	256	165715758	5399309	7809	9955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	141					0	0	1	0	0	T	165749634	C	T	165749634	3	4	22	1	0	0	0	0	1	0	0	0	11677	864	30	2	132	2	PDE10A	6	165749634	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33876	165749634	5365433	7810	9956											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	471					2.32112e-61	2.92237e-61	1	1	0	A	165792768	C	A	165792768	3	1	22	1	0	0	0	0	1	0	0	0	11677	913	32	2	489	2	PDE10A	6	165792768	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43134	165792768	5322299	7811	9957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	392					0	0	1	0	0	T	165809938	C	T	165809938	3	4	22	1	0	0	0	0	1	0	0	0	11677	913	32	2	1116	2	PDE10A	6	165809938	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17170	165809938	5305129	7812	9958											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				38	617					0	0	1	0	0	A	166580185	G	A	166580185	2	1	22	1	0	0	0	0	0	0	0	1	15545	1079	38	1		1	T	6	166580185	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	770247	166580185	4534882	7813	9959											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.V688M|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.V599M|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.V599M|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													23	163					0	0	1	0	0	T	166827296	C	T	166827296	3	4	22	1	0	0	0	0	1	0	0	0	13703	536	19	1	147	1	RPS6KA2	6	166827296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	247111	166827296	4287771	7814	9960											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000265678.4_Silent_p.S360S|RPS6KA2_ENST00000405189.3_Silent_p.S271S|RPS6KA2_ENST00000481261.2_Silent_p.S271S|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													87	424					0	0	1	0	0	C	166864717	A	C	166864717	2	2	22	1	0	0	0	0	0	0	0	1	13703	291	11	3		3	RPS6KA2	6	166864717	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	37421	166864717	4250350	7815	9961											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000265678.4_Silent_p.P279P|RPS6KA2_ENST00000366863.2_Silent_p.P125P|RPS6KA2_ENST00000405189.3_Silent_p.P190P|RPS6KA2_ENST00000481261.2_Silent_p.P190P|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													20	111					0	0	1	0	0	T	166902391	C	T	166902391	2	4	22	1	0	0	0	0	0	0	0	1	13703	755	27	1		1	RPS6KA2	6	166902391	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37674	166902391	4212676	7816	9962											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000265678.4_Silent_p.I223I|RPS6KA2_ENST00000366863.2_Silent_p.I69I|RPS6KA2_ENST00000405189.3_Silent_p.I134I|RPS6KA2_ENST00000481261.2_Silent_p.I134I|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													73	298					0	0	1	0	0	A	166912074	G	A	166912074	2	1	22	1	0	0	0	0	0	0	0	1	13703	1048	37	1		1	RPS6KA2	6	166912074	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9683	166912074	4202993	7817	9963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167344532C>A	ENST00000366855.6	-	9	1128	c.453_splice	c.e9+1	p.Q151_splice	RNASET2_ENST00000508775.1_Splice_Site_p.Q189_splice|RNASET2_ENST00000476238.2_Splice_Site_p.Q189_splice|RP11-514O12.4_ENST00000507747.1_Intron			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													110	477					5.94134e-38	7.14835e-38	1	1	0	A	167344532	C	A	167344532	5	1	22	1	0	0	0	0	0	0	1	0	13470	695	24	2	211	2	RNASET2	6	167344532	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	432458	167344532	3770535	7818	9964											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167416734C>T	ENST00000366847.3	+	3	441	c.211_splice	c.e3+1	p.D70_splice	FGFR1OP_ENST00000349556.4_Splice_Site_p.D70_splice|FGFR1OP_ENST00000476078.1_3'UTR	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	70	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"								26	179					0	0	1	0	0	T	167416734	C	T	167416734	5	4	22	1	0	0	0	0	0	0	1	0	5897	550	19	1	220	1	FGFR1OP	6	167416734	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72202	167416734	3698333	7819	9965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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													96	361					0	0	1	0	0	T	167550300	C	T	167550300	2	4	22	1	0	0	0	0	0	0	0	1	2967	767	27	1		1	CCR6	6	167550300	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133566	167550300	3564767	7820	9966											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	772					0	0	1	0	0	A	167708179	G	A	167708179	3	1	22	1	0	0	0	0	1	0	0	0	17056	1087	38	1	268	1	UNC93A	6	167708179	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157879	167708179	3406888	7821	9967											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447894.2_Nonsense_Mutation_p.E479*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.E463*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.E479*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.E479*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.E478*|MLLT4_ENST00000392108.3_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								11	198					2.80697e-09	2.95087e-09	1	1	0	T	168299002	G	T	168299002	4	4	22	1	0	0	0	0	0	1	0	0	9677	943	33	2	1477	2	MLLT4	6	168299002	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	590823	168299002	2816065	7822	9968											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447894.2_Missense_Mutation_p.S625I|MLLT4_ENST00000392112.1_Missense_Mutation_p.S609I|MLLT4_ENST00000351017.4_Missense_Mutation_p.S625I|MLLT4_ENST00000344191.4_Missense_Mutation_p.S625I|MLLT4_ENST00000400822.3_Missense_Mutation_p.S624I|MLLT4_ENST00000392108.3_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								71	421					4.81439e-37	5.77535e-37	1	1	0	T	168312006	G	T	168312006	3	4	22	1	0	0	0	0	1	0	0	0	9677	971	34	2	1932	2	MLLT4	6	168312006	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13004	168312006	2803061	7823	9969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447894.2_Silent_p.T1316T|MLLT4_ENST00000392112.1_Silent_p.T1299T|MLLT4_ENST00000351017.4_Silent_p.T1323T|MLLT4_ENST00000344191.4_Silent_p.T1316T|MLLT4_ENST00000400822.3_Silent_p.T1315T|MLLT4_ENST00000392108.3_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								111	427					7.0969e-38	8.53581e-38	1	1	0	A	168352003	C	A	168352003	2	1	22	1	0	0	0	0	0	0	0	1	9677	668	24	2		2	MLLT4	6	168352003	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39997	168352003	2763064	7824	9970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447894.2_Missense_Mutation_p.R1634C|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1617C|MLLT4_ENST00000351017.4_Missense_Mutation_p.R1641C|MLLT4_ENST00000344191.4_Missense_Mutation_p.R1646C|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1644C|MLLT4_ENST00000392108.3_Missense_Mutation_p.R1632C			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								118	617					0	0	1	0	0	T	168363200	C	T	168363200	3	4	22	1	0	0	0	0	1	0	0	0	9677	768	27	1	5130	1	MLLT4	6	168363200	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11197	168363200	2751867	7825	9971											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537786.1_Silent_p.A161A|FRMD1_ENST00000440994.2_Silent_p.A322A|FRMD1_ENST00000432403.1_5'UTR	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													29	292					0	0	1	0	0	A	168461613	G	A	168461613	2	1	22	1	0	0	0	0	0	0	0	1	6084	1103	39	1		1	FRMD1	6	168461613	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98413	168461613	2653454	7826	9972											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537786.1_5'UTR|FRMD1_ENST00000440994.2_Silent_p.C107C|FRMD1_ENST00000432403.1_5'UTR	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													29	124					0	0	1	0	0	A	168465674	G	A	168465674	2	1	22	1	0	0	0	0	0	0	0	1	6084	1079	38	1		1	FRMD1	6	168465674	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4061	168465674	2649393	7827	9973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	436					9.16793e-09	9.60025e-09	1	1	0	T	168479680	G	T	168479680	3	4	22	1	0	0	0	0	1	0	0	0	6084	1000	35	2	1611	2	FRMD1	6	168479680	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14006	168479680	2635387	7828	9974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	338					0	0	1	0	0	C	168949822	T	C	168949822	2	2	22	1	0	0	0	0	0	0	0	1	14856	1712	60	3		3	SMOC2	6	168949822	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	470142	168949822	2165245	7829	9975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	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													69	373					0	0	1	0	0	C	169623504	A	C	169623504	3	2	22	1	0	0	0	0	1	0	0	0	15914	159	6	3	698	3	THBS2	6	169623504	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	673682	169623504	1491563	7830	9976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	117					0	0	1	0	0	T	169625342	C	T	169625342	3	4	22	1	0	0	0	0	1	0	0	0	15914	652	23	1	871	1	THBS2	6	169625342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1838	169625342	1489725	7831	9977											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	261					0	0	1	0	0	A	169632084	G	A	169632084	2	1	22	1	0	0	0	0	0	0	0	1	15914	1020	36	2		2	THBS2	6	169632084	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6742	169632084	1482983	7832	9978											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	393					0	0	1	0	0	T	169632164	C	T	169632164	3	4	22	1	0	0	0	0	1	0	0	0	15914	652	23	1	1496	1	THBS2	6	169632164	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	169632164	1482903	7833	9979											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	502					0	0	1	0	0	T	169632237	C	T	169632237	2	4	22	1	0	0	0	0	0	0	0	1	15914	639	23	1		1	THBS2	6	169632237	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73	169632237	1482830	7834	9980											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	308					0	0	1	0	0	T	169634946	C	T	169634946	3	4	22	1	0	0	0	0	1	0	0	0	15914	652	23	1	2036	1	THBS2	6	169634946	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2709	169634946	1480121	7835	9981											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000423258.1_Missense_Mutation_p.R339Q|WDR27_ENST00000448612.1_Missense_Mutation_p.R466Q|WDR27_ENST00000546525.1_5'UTR			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													6	33					0	0	1	0	0	T	170058377	C	T	170058377	3	4	22	1	0	0	0	0	1	0	0	0	17344	884	31	1	1228	1	WDR27	6	170058377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423431	170058377	1056690	7836	9982											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	277					0	0	1	0	0	A	170102799	G	A	170102799	3	1	22	1	0	0	0	0	1	0	0	0	2338	1087	38	1	246	1	C6orf120	6	170102799	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44422	170102799	1012268	7837	9983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	115					0	0	1	0	0	T	170103014	C	T	170103014	2	4	22	1	0	0	0	0	0	0	0	1	2338	755	27	1		1	C6orf120	6	170103014	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	215	170103014	1012053	7838	9984											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	179					0	0	1	0	0	G	170104118	T	G	170104118	3	3	22	1	0	0	0	0	1	0	0	0	11869	1841	64	3	22	3	PHF10	6	170104118	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1104	170104118	1010949	7839	9985											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366780.4_Missense_Mutation_p.Y88H|PHF10_ENST00000464779.1_5'UTR	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													78	371					0	0	1	0	0	G	170118947	A	G	170118947	3	3	22	1	0	0	0	0	1	0	0	0	11869	420	15	3	1274	3	PHF10	6	170118947	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14829	170118947	996120	7840	9986											
C6orf70	0	broad.mit.edu	37	chr6	170181441	170181441	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tacaggtttgtaaagtcgatCttgcagtacacggagaacct	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170181441C>A	ENST00000588451.1	+	17	1974	c.1461C>A	c.(1459-1461)atC>atA	p.I487I	C6orf70_ENST00000366772.2_Silent_p.I576I|C6orf70_ENST00000366773.3_Silent_p.I623I|C6orf70_ENST00000392095.4_Silent_p.I497I|C6orf70_ENST00000418781.3_Silent_p.I550I			Q5T6L9	CF070_HUMAN		623						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		TAAAGTCGATCTTGCAGTACA	0.318													41	129					8.01111e-26	9.20789e-26	1	1	0	A	170181441	C	A	170181441	2	1	22	1	0	0	0	0	0	0	0	1	2385	903	32	2		2	C6orf70	6	170181441	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62494	170181441	933626	7841	9987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	575					0	0	1	0	0	A	170592486	G	A	170592486	2	1	22	1	0	0	0	0	0	0	0	1	4594	1103	39	1		1	DLL1	6	170592486	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	411045	170592486	522581	7842	9988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	50					0	0	1	0	0	A	170592876	G	A	170592876	2	1	22	1	0	0	0	0	0	0	0	1	4594	1136	40	1		1	DLL1	6	170592876	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	390	170592876	522191	7843	9989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537664.1_Missense_Mutation_p.G172C|FAM120B_ENST00000540480.1_Missense_Mutation_p.G161C|FAM120B_ENST00000252510.9_Intron	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													94	350					3.11363e-52	3.87178e-52	1	1	0	T	170626923	G	T	170626923	3	4	22	1	0	0	0	0	1	0	0	0	5448	1232	43	2	447	2	FAM120B	6	170626923	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34047	170626923	488144	7844	9990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537664.1_Missense_Mutation_p.D536N|FAM120B_ENST00000540480.1_Missense_Mutation_p.D525N|FAM120B_ENST00000252510.9_Intron	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													73	400					0	0	1	0	0	A	170628015	G	A	170628015	3	1	22	1	0	0	0	0	1	0	0	0	5448	942	33	2	1539	2	FAM120B	6	170628015	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1092	170628015	487052	7845	9991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	328					0	0	1	0	0	T	170881346	C	T	170881346	3	4	22	1	0	0	0	0	1	0	0	0	15704	536	19	1	1039	1	TBP	6	170881346	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	253331	170881346	233721	7846	9992											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544935.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.E247K|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000537384.1_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													19	132					0	0	1	0	0	T	624175	C	T	624175	3	4	22	1	0	0	0	0	1	0	0	0	12556	893	31	1	422	1	PRKAR1B	7	624175	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08		624175	158514488	7847	9993											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544935.1_Missense_Mutation_p.V111M|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.V111M|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.V111M|PRKAR1B_ENST00000537384.1_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													39	180					0	0	1	0	0	T	720210	C	T	720210	3	4	22	1	0	0	0	0	1	0	0	0	12556	536	19	1	850	1	PRKAR1B	7	720210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96035	720210	158418453	7848	9994											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	393					0	0	1	0	0	A	796502	G	A	796502	2	1	22	1	0	0	0	0	0	0	0	1	7069	1074	38	1		1	HEATR2	7	796502	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76292	796502	158342161	7849	9995											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	52					0	0	1	0	0	T	801405	C	T	801405	3	4	22	1	0	0	0	0	1	0	0	0	7069	768	27	1	1512	1	HEATR2	7	801405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4903	801405	158337258	7850	9996											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000403952.3_Silent_p.G158G|HEATR2_ENST00000313147.5_Silent_p.G733G	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)	45	194					0	0	1	0	0	T	814759	C	T	814759	2	4	22	1	0	0	0	0	0	0	0	1	7069	755	27	1		1	HEATR2	7	814759	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13354	814759	158323904	7851	9997											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000403952.3_Missense_Mutation_p.R261H|HEATR2_ENST00000313147.5_Intron	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													104	396					0	0	1	0	0	A	825229	G	A	825229	3	1	22	1	0	0	0	0	1	0	0	0	7069	1087	38	1	2557	1	HEATR2	7	825229	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10470	825229	158313434	7852	9998											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457378.2_Missense_Mutation_p.R152W|SUN1_ENST00000469755.1_3'UTR|SUN1_ENST00000425407.2_Missense_Mutation_p.R81W|SUN1_ENST00000389574.3_Missense_Mutation_p.R81W|SUN1_ENST00000403868.1_Missense_Mutation_p.R131W|SUN1_ENST00000405266.1_Missense_Mutation_p.R131W|SUN1_ENST00000401592.1_Missense_Mutation_p.R131W|SUN1_ENST00000452783.2_Missense_Mutation_p.R131W			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													56	230					0	0	1	0	0	T	881707	C	T	881707	3	4	22	1	0	0	0	0	1	0	0	0	15447	527	19	1	468	1	SUN1	7	881707	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56478	881707	158256956	7853	9999											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000425407.2_Missense_Mutation_p.K413T|SUN1_ENST00000389574.3_Missense_Mutation_p.K413T|SUN1_ENST00000405266.1_Missense_Mutation_p.K533T|SUN1_ENST00000401592.1_Missense_Mutation_p.K496T|SUN1_ENST00000413514.2_Missense_Mutation_p.K294T|SUN1_ENST00000452783.2_Missense_Mutation_p.K393T			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													75	840					0	0	1	0	0	C	897557	A	C	897557	3	2	22	1	0	0	0	0	1	0	0	0	15447	72	3	3	1720	3	SUN1	7	897557	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15850	897557	158241106	7854	10000											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	326					0	0	1	0	0	A	1024606	G	A	1024606	3	1	22	1	0	0	0	0	1	0	0	0	4199	1203	42	2	368	2	CYP2W1	7	1024606	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127049	1024606	158114057	7855	10001											
GPER	0	broad.mit.edu	37	chr7	1131452	1131452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccccaacaccacctcccccGagctcaacctgtcccacccg	4	25	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1131452G>A	ENST00000397092.1	+	3	972	c.88G>A	c.(88-90)Gag>Aag	p.E30K	C7orf50_ENST00000397098.3_Intron|GPER_ENST00000297469.3_Missense_Mutation_p.E30K|C7orf50_ENST00000488073.1_Intron|GPER_ENST00000397088.3_Missense_Mutation_p.E30K|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397100.2_Intron|GPER_ENST00000401670.1_Missense_Mutation_p.E30K	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		30						endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CACCTCCCCCGAGCTCAACCT	0.672													44	294					0	0	1	0	0	A	1131452	G	A	1131452	3	1	22	1	0	0	0	0	1	0	0	0	6647	1059	37	1	90	1	GPER	7	1131452	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106846	1131452	158007211	7856	10002											
GPER	0	broad.mit.edu	37	chr7	1131792	1131792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaggtcaacatgtacaGcagcgtcttcttcctcacct	7	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1131792G>A	ENST00000397092.1	+	3	1312	c.428G>A	c.(427-429)aGc>aAc	p.S143N	C7orf50_ENST00000397098.3_Intron|GPER_ENST00000297469.3_Missense_Mutation_p.S143N|C7orf50_ENST00000488073.1_Intron|GPER_ENST00000397088.3_Missense_Mutation_p.S143N|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397100.2_Intron|GPER_ENST00000401670.1_Missense_Mutation_p.S143N	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		143				NMYSSVF -> QHVQAASS (in Ref. 7; AAB02736).		endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		AACATGTACAGCAGCGTCTTC	0.612													122	468					0	0	1	0	0	A	1131792	G	A	1131792	3	1	22	1	0	0	0	0	1	0	0	0	6647	971	34	2	430	2	GPER	7	1131792	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	340	1131792	158006871	7857	10003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Missense_Mutation_p.L532M	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													9	30					0.00621372	0.0062537	1	1	0	T	1477814	G	T	1477814	3	4	22	1	0	0	0	0	1	0	0	0	9622	962	34	2	508	2	MICALL2	7	1477814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	346022	1477814	157660849	7858	10004											
INTS1	26173	broad.mit.edu	37	chr7	1519141	1519141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggacatcaccagggcaccGccgtgtggggagctgagcag	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1519141G>A	ENST00000389470.4	-	32	4850	c.4851C>T	c.(4849-4851)ggC>ggT	p.G1617G	INTS1_ENST00000404767.3_Silent_p.G1418G			Q8N201	INT1_HUMAN	integrator complex subunit 1	1418					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)		CCAGGGCACCGCCGTGTGGGG	0.711													7	32					0	0	1	0	0	A	1519141	G	A	1519141	2	1	22	1	0	0	0	0	0	0	0	1	7819	1074	38	1		1	INTS1	7	1519141	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41327	1519141	157619522	7859	10005											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	313					0	0	1	0	0	T	1525021	C	T	1525021	3	4	22	1	0	0	0	0	1	0	0	0	7819	913	32	2	3615	2	INTS1	7	1525021	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5880	1525021	157613642	7860	10006											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	141					3.6726e-16	4.02855e-16	1	1	0	A	1525106	C	A	1525106	3	1	22	1	0	0	0	0	1	0	0	0	7819	695	24	2	3700	2	INTS1	7	1525106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85	1525106	157613557	7861	10007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	635					5.30871e-29	6.19452e-29	1	1	0	A	1538957	C	A	1538957	3	1	22	1	0	0	0	0	1	0	0	0	7819	797	28	2	5856	2	INTS1	7	1538957	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13851	1538957	157599706	7862	10008											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	444					0	0	1	0	0	T	1542716	C	T	1542716	3	4	22	1	0	0	0	0	1	0	0	0	7819	768	27	1	6586	1	INTS1	7	1542716	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3759	1542716	157595947	7863	10009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	201					0	0	1	0	0	T	1590537	C	T	1590537	3	4	22	1	0	0	0	0	1	0	0	0	16164	768	27	1	968	1	TMEM184A	7	1590537	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47821	1590537	157548126	7864	10010											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	196					0	0	1	0	0	T	1590563	C	T	1590563	3	4	22	1	0	0	0	0	1	0	0	0	16164	768	27	1	994	1	TMEM184A	7	1590563	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26	1590563	157548100	7865	10011											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402746.1_Missense_Mutation_p.E369D|MAD1L1_ENST00000265854.7_Missense_Mutation_p.E461D			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													211	874					4.61621e-74	5.87989e-74	1	1	0	A	2041733	C	A	2041733	3	1	22	1	0	0	0	0	1	0	0	0	9193	680	24	2	797	2	MAD1L1	7	2041733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	451170	2041733	157096930	7866	10012											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000338732.3_Intron|LFNG_ENST00000359574.3_Missense_Mutation_p.A107T|LFNG_ENST00000402045.1_Intron|LFNG_ENST00000402506.1_Intron	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													27	108					0	0	1	0	0	A	2559814	G	A	2559814	3	1	22	1	0	0	0	0	1	0	0	0	8776	1203	42	2	597	2	LFNG	7	2559814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	518081	2559814	156578849	7867	10013											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407643.1_Silent_p.A402A|TTYH3_ENST00000403167.1_Silent_p.A263A	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													19	92					0	0	1	0	0	A	2697971	G	A	2697971	2	1	22	1	0	0	0	0	0	0	0	1	16803	1074	38	1		1	TTYH3	7	2697971	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138157	2697971	156440692	7868	10014											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	1035					0	0	1	0	0	A	2740161	G	A	2740161	3	1	22	1	0	0	0	0	1	0	0	0	592	1087	38	1	78	1	AMZ1	7	2740161	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42190	2740161	156398502	7869	10015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000489665.1_Intron|AMZ1_ENST00000312371.4_Silent_p.P344P			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													17	122					0	0	1	0	0	A	2752047	G	A	2752047	3	1	22	1	0	0	0	0	1	0	0	0	592	1074	38	1	1054	1	AMZ1	7	2752047	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11886	2752047	156386616	7870	10016											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								116	464					0	0	1	0	0	A	2952980	G	A	2952980	3	1	22	1	0	0	0	0	1	0	0	0	2663	1145	40	1	520	1	CARD11	7	2952980	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200933	2952980	156185683	7871	10017											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								36	189					0	0	1	0	0	A	2974175	G	A	2974175	3	1	22	1	0	0	0	0	1	0	0	0	2663	942	33	2	2098	2	CARD11	7	2974175	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21195	2974175	156164488	7872	10018											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	113					0	0	1	0	0	A	4002385	G	A	4002385	3	1	22	1	0	0	0	0	1	0	0	0	14022	1087	38	1	1365	1	SDK1	7	4002385	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1028210	4002385	155136278	7873	10019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	112					0	0	1	0	0	A	4011159	G	A	4011159	2	1	22	1	0	0	0	0	0	0	0	1	14022	1074	38	1		1	SDK1	7	4011159	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8774	4011159	155127504	7874	10020											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	524					2.76863e-45	3.39467e-45	1	1	0	A	4091441	C	A	4091441	3	1	22	1	0	0	0	0	1	0	0	0	14022	796	28	2	2964	2	SDK1	7	4091441	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80282	4091441	155047222	7875	10021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													212	957					0	0	1	0	0	T	4213928	C	T	4213928	2	4	22	1	0	0	0	0	0	0	0	1	14022	639	23	1		1	SDK1	7	4213928	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122487	4213928	154924735	7876	10022											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Silent_p.N2086N	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													64	296					0	0	1	0	0	T	4285374	C	T	4285374	2	4	22	1	0	0	0	0	0	0	0	1	14022	535	19	1		1	SDK1	7	4285374	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71446	4285374	154853289	7877	10023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538469.1_Missense_Mutation_p.G671D|RADIL_ENST00000536091.1_3'UTR	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													19	90					0	0	1	0	0	T	4841394	C	T	4841394	3	4	22	1	0	0	0	0	1	0	0	0	13049	739	26	2	511	2	RADIL	7	4841394	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	556020	4841394	154297269	7878	10024											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538469.1_Silent_p.Q120Q|RADIL_ENST00000536091.1_Silent_p.Q360Q	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													15	90					0	0	1	0	0	T	4874574	C	T	4874574	2	4	22	1	0	0	0	0	0	0	0	1	13049	680	24	2		2	RADIL	7	4874574	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33180	4874574	154264089	7879	10025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538469.1_Missense_Mutation_p.R38Q|RADIL_ENST00000536091.1_Missense_Mutation_p.R278Q	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													22	111					0	0	1	0	0	T	4874821	C	T	4874821	3	4	22	1	0	0	0	0	1	0	0	0	13049	652	23	1	2442	1	RADIL	7	4874821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	247	4874821	154263842	7880	10026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_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													29	119					1.77063e-15	1.9355e-15	1	1	0	T	4899539	G	T	4899539	3	4	22	1	0	0	0	0	1	0	0	0	11477	933	33	2	14	2	PAPOLB	7	4899539	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24718	4899539	154239124	7881	10027											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_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													104	476					0	0	1	0	0	T	4900560	C	T	4900560	2	4	22	1	0	0	0	0	0	0	0	1	11477	842	30	2		2	PAPOLB	7	4900560	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1021	4900560	154238103	7882	10028											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000401525.3_Missense_Mutation_p.T364A|WIPI2_ENST00000484262.1_Missense_Mutation_p.T323A|WIPI2_ENST00000382384.2_Missense_Mutation_p.T364A|WIPI2_ENST00000404704.3_Missense_Mutation_p.T382A	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													21	97					0	0	1	0	0	G	5269261	A	G	5269261	3	3	22	1	0	0	0	0	1	0	0	0	17431	275	10	3	1224	3	WIPI2	7	5269261	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	368701	5269261	153869402	7883	10029											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5330411C>T	ENST00000396872.2	+	3	379	c.218C>T	c.(217-219)gCg>gTg	p.A73V	SLC29A4_ENST00000297195.4_Missense_Mutation_p.A73V|SLC29A4_ENST00000406453.3_Missense_Mutation_p.A73V	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	73					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													7	317					0	0	1	0	0	T	5330411	C	T	5330411	3	4	22	1	0	0	0	0	1	0	0	0	14592	768	27	1	224	1	SLC29A4	7	5330411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61150	5330411	153808252	7884	10030											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5339001C>T	ENST00000396872.2	+	9	1313	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G	SLC29A4_ENST00000297195.4_Silent_p.G384G|SLC29A4_ENST00000406453.3_Silent_p.G370G|SLC29A4_ENST00000439491.2_3'UTR	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	384					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													21	212					0	0	1	0	0	T	5339001	C	T	5339001	2	4	22	1	0	0	0	0	0	0	0	1	14592	755	27	1		1	SLC29A4	7	5339001	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8590	5339001	153799662	7885	10031											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5340232C>T	ENST00000396872.2	+	10	1550	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	SLC29A4_ENST00000297195.4_Silent_p.F463F|SLC29A4_ENST00000406453.3_Silent_p.F449F|SLC29A4_ENST00000439491.2_3'UTR	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	463					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													148	593					0	0	1	0	0	T	5340232	C	T	5340232	2	4	22	1	0	0	0	0	0	0	0	1	14592	883	31	1		1	SLC29A4	7	5340232	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1231	5340232	153798431	7886	10032											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	100					2.23348e-06	2.30073e-06	1	1	0	A	5352415	C	A	5352415	3	1	22	1	0	0	0	0	1	0	0	0	16399	739	26	2	815	2	TNRC18	7	5352415	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12183	5352415	153786248	7887	10033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	38					0	0	1	0	0	T	5401540	C	T	5401540	3	4	22	1	0	0	0	0	1	0	0	0	16399	768	27	1	4458	1	TNRC18	7	5401540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49125	5401540	153737123	7888	10034											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399434.2_Silent_p.E60E|TNRC18_ENST00000430969.1_Silent_p.E134E			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													20	109					0	0	1	0	0	T	5430201	C	T	5430201	2	4	22	1	0	0	0	0	0	0	0	1	16399	796	28	2		2	TNRC18	7	5430201	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28661	5430201	153708462	7889	10035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	550					0	0	1	0	0	T	5521531	C	T	5521531	3	4	22	1	0	0	0	0	1	0	0	0	5747	536	19	1	128	1	FBXL18	7	5521531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91330	5521531	153617132	7890	10036											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	112					0	0	1	0	0	T	5540606	C	T	5540606	3	4	22	1	0	0	0	0	1	0	0	0	5747	768	27	1	874	1	FBXL18	7	5540606	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19075	5540606	153598057	7891	10037											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	536					1.68737e-39	2.04089e-39	1	1	0	T	5568999	G	T	5568999	2	4	22	1	0	0	0	0	0	0	0	1	193	987	35	2		2	ACTB	7	5568999	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28393	5568999	153569664	7892	10038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	787					9.73076e-26	1.11809e-25	1	1	0	T	5754711	G	T	5754711	2	4	22	1	0	0	0	0	0	0	0	1	13532	1219	43	2		2	RNF216	7	5754711	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	185712	5754711	153383952	7893	10039											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000526.1	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				45	288					0	0	1	0	0	A	6017283	G	A	6017283	3	1	22	1	0	0	0	0	1	0	0	0	12191	1000	35	2	215	2	PMS2	7	6017283	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262572	6017283	153121380	7894	10040											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000441476.2_Silent_p.V677V|PMS2_ENST00000382321.4_Silent_p.V382V|PMS2_ENST00000265849.7_Silent_p.V783V			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				70	542					0	0	1	0	0	A	6017315	G	A	6017315	3	1	22	1	0	0	0	0	1	0	0	0	12191	1045	37	1	247	1	PMS2	7	6017315	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32	6017315	153121348	7895	10041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000441476.2_Silent_p.T452T|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Silent_p.T558T	NM_000535.5	NP_000526.1	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				37	1112					0	0	1	0	0	A	6026722	G	A	6026722	2	1	22	1	0	0	0	0	0	0	0	1	12191	1103	39	1		1	PMS2	7	6026722	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9407	6026722	153111941	7896	10042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000441476.2_Missense_Mutation_p.R321H|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.R427H	NM_000535.5	NP_000526.1	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				40	214					0	0	1	0	0	T	6027116	C	T	6027116	3	4	22	1	0	0	0	0	1	0	0	0	12191	536	19	1	1328	1	PMS2	7	6027116	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	394	6027116	153111547	7897	10043											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6035166T>G	ENST00000265849.7	-	8	1007	c.903_splice	c.e8+1	p.K301_splice	PMS2_ENST00000441476.2_Splice_Site_p.K195_splice|PMS2_ENST00000406569.3_Splice_Site_p.K301_splice|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Intron	NM_000535.5	NP_000526.1	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				60	265					0	0	1	0	0	G	6035166	T	G	6035166	5	3	22	1	0	0	0	0	0	0	1	0	12191	1623	56	3	1718	3	PMS2	7	6035166	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8050	6035166	153103497	7898	10044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000406569.3_Missense_Mutation_p.A38V|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Missense_Mutation_p.A38V	NM_000535.5	NP_000526.1	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				307	1257					0	0	1	0	0	A	6045573	G	A	6045573	3	1	22	1	0	0	0	0	1	0	0	0	12191	1087	38	1	2531	1	PMS2	7	6045573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10407	6045573	153093090	7899	10045											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	111					1.50039e-11	1.60151e-11	1	1	0	T	6196451	G	T	6196451	3	4	22	1	0	0	0	0	1	0	0	0	17133	933	33	2	2322	2	USP42	7	6196451	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	150878	6196451	152942212	7900	10046											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	266					0	0	1	0	0	G	6205375	T	G	6205375	3	3	22	1	0	0	0	0	1	0	0	0	4228	1783	62	3	325	3	CYTH3	7	6205375	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8924	6205375	152933288	7901	10047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000425398.2_Silent_p.L361L|DAGLB_ENST00000421761.2_3'UTR|DAGLB_ENST00000297056.6_Silent_p.L490L|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													21	115					0	0	1	0	0	A	6452623	G	A	6452623	3	1	22	1	0	0	0	0	1	0	0	0	4251	1045	37	1	564	1	DAGLB	7	6452623	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	247248	6452623	152686040	7902	10048											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	529					1.09907e-53	1.37041e-53	1	1	0	T	6474563	G	T	6474563	3	4	22	1	0	0	0	0	1	0	0	0	4251	1232	43	2	1558	2	DAGLB	7	6474563	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21940	6474563	152664100	7903	10049											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6485682G>T	ENST00000428902.2	-	0	238				DAGLB_ENST00000425398.2_Missense_Mutation_p.A50D|DAGLB_ENST00000421761.2_De_novo_Start_OutOfFrame|DAGLB_ENST00000297056.6_Missense_Mutation_p.A50D|DAGLB_ENST00000436575.1_Missense_Mutation_p.A9D|KDELR2_ENST00000463747.1_5'UTR|DAGLB_ENST00000479922.2_5'UTR			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													92	314					1.13884e-41	1.38436e-41	1	1	0	T	6485682	G	T	6485682	1	4	22	1	0	0	0	0	0	0	0	0	4251	971	34	2		2	DAGLB	7	6485682	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11119	6485682	152652981	7904	10050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6523680A>C	ENST00000436575.1	-	0	141				KDELR2_ENST00000490996.1_Missense_Mutation_p.I3M|KDELR2_ENST00000258739.4_Missense_Mutation_p.I3M|KDELR2_ENST00000463747.1_5'UTR|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													15	62					0	0	1	0	0	C	6523680	A	C	6523680	1	2	22	1	0	0	0	0	0	0	0	0	4251	10	1	3		3	DAGLB	7	6523680	Translation_Start_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	37998	6523680	152614983	7905	10051											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000335965.6_Missense_Mutation_p.E289G|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.E289G|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.E289G|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.E289G|ZDHHC4_ENST00000396709.1_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													35	612					0	0	1	0	0	G	6628372	A	G	6628372	3	3	22	1	0	0	0	0	1	0	0	0	17675	304	11	3	888	3	ZDHHC4	7	6628372	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	104692	6628372	152510291	7906	10052											
ZNF12	7559	broad.mit.edu	37	chr7	6730700	6730700	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttctctcctgaatgaattcGatgatgtatagtgagatagg	10	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6730700G>A	ENST00000405858.1	-	5	2414	c.1873C>T	c.(1873-1875)Cga>Tga	p.R625*	ZNF12_ENST00000342651.5_Nonsense_Mutation_p.R587*|ZNF12_ENST00000404360.1_Nonsense_Mutation_p.R551*|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	625					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GAATGAATTCGATGATGTATA	0.413													40	188					0	0	1	0	0	A	6730700	G	A	6730700	4	1	22	1	0	0	0	0	0	1	0	0	17776	1066	37	1	224	1	ZNF12	7	6730700	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102328	6730700	152407963	7907	10053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	180					2.01872e-29	2.35895e-29	1	1	0	A	7483263	C	A	7483263	3	1	22	1	0	0	0	0	1	0	0	0	3709	797	28	2	1838	2	COL28A1	7	7483263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	752563	7483263	151655400	7908	10054											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	236					0	0	1	0	0	A	7545675	G	A	7545675	2	1	22	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	7909	10055											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					109	481					0	0	1	0	0	A	7679979	G	A	7679979	3	1	22	1	0	0	0	0	1	0	0	0	13590	1000	35	2	310	2	RPA3	7	7679979	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134304	7679979	151458684	7910	10056											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC006465.3_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													65	331					0	0	1	0	0	A	8043574	G	A	8043574	3	1	22	1	0	0	0	0	1	0	0	0	6473	1029	36	2	500	2	GLCCI1	7	8043574	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	363595	8043574	151095089	7911	10057											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|ICA1_ENST00000396675.3_Silent_p.A449A|AC006042.6_ENST00000449931.1_RNA|ICA1_ENST00000406470.2_Silent_p.A449A|ICA1_ENST00000265577.7_Silent_p.A448A|ICA1_ENST00000401396.1_Silent_p.A437A			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													88	332					1.55023e-36	1.85648e-36	1	1	0	T	8153658	G	T	8153658	2	4	22	1	0	0	0	0	0	0	0	1	7521	987	35	2		2	ICA1	7	8153658	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110084	8153658	150985005	7912	10058											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	101					0	0	1	0	0	A	8791187	G	A	8791187	3	1	22	1	0	0	0	0	1	0	0	0	10838	1290	45	2	610	2	NXPH1	7	8791187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	637529	8791187	150347476	7913	10059											
PHF14	9678	broad.mit.edu	37	chr7	11075380	11075381	+	Frame_Shift_Del	DEL	AG	AG	-													tattgtaaaatgtctttgcaAgagagagagaagcaactatc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11075380_11075381delAG	ENST00000403050.3	+	8	2021_2022	c.1569_1570delAG	c.(1567-1572)caagfs	p.QE523fs	PHF14_ENST00000445996.2_Frame_Shift_Del_p.QE238fs	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	523							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGTCTTTGCAAGAGAGAGAGAA	0.376													8	975	---	---	---	---						-	11075381	AG	-	11075380	7	5	22	1	0	1	0	1	0	0	0	0	11873	69	3	0	1599	0	PHF14	7	11075380	Frame_Shift_Del	DEL	AG	TCGA-IB-7651-01A-11D-2154-08	2284193	11075380	148063283	7914	10060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11415430G>A	ENST00000423059.3	-	28	5216	c.4965C>T	c.(4963-4965)gcC>gcT	p.A1655A	AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000428967.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1655						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)			48	447					0	0	1	0	0	A	11415430	G	A	11415430	2	1	22	1	0	0	0	0	0	0	0	1	15939	1103	39	1		1	THSD7A	7	11415430	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	340050	11415430	147723233	7915	10061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11446998G>T	ENST00000423059.3	-	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	1284	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)			10	125					6.53275e-17	7.19348e-17	1	1	0	T	11446998	G	T	11446998	3	4	22	1	0	0	0	0	1	0	0	0	15939	1000	35	2	1158	2	THSD7A	7	11446998	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31568	11446998	147691665	7916	10062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11457220T>G	ENST00000423059.3	-	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	1132	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)			31	190					0	0	1	0	0	G	11457220	T	G	11457220	3	3	22	1	0	0	0	0	1	0	0	0	15939	1783	62	3	1627	3	THSD7A	7	11457220	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10222	11457220	147681443	7917	10063											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11630195C>T	ENST00000423059.3	-	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	449	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)			38	194					0	0	1	0	0	T	11630195	C	T	11630195	3	4	22	1	0	0	0	0	1	0	0	0	15939	652	23	1	3724	1	THSD7A	7	11630195	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172975	11630195	147508468	7918	10064											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11632901A>C	ENST00000423059.3	-	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	417						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)			48	177					0	0	1	0	0	C	11632901	A	C	11632901	3	2	22	1	0	0	0	0	1	0	0	0	15939	214	8	3	3822	3	THSD7A	7	11632901	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2706	11632901	147505762	7919	10065											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11676485G>A	ENST00000423059.3	-	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	98	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)			76	356					0	0	1	0	0	A	11676485	G	A	11676485	2	1	22	1	0	0	0	0	0	0	0	1	15939	1020	36	2		2	THSD7A	7	11676485	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43584	11676485	147462178	7920	10066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000445618.2_Missense_Mutation_p.F408C|SCIN_ENST00000519209.1_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													12	51					0	0	1	0	0	G	12691470	T	G	12691470	3	3	22	1	0	0	0	0	1	0	0	0	13959	1841	64	3	2022	3	SCIN	7	12691470	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1014985	12691470	146447193	7921	10067											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404894.1_Missense_Mutation_p.D184N|ARL4A_ENST00000356797.3_Missense_Mutation_p.D184N|ARL4A_ENST00000396664.2_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													69	322					0	0	1	0	0	A	12728429	G	A	12728429	3	1	22	1	0	0	0	0	1	0	0	0	935	1290	45	2	552	2	ARL4A	7	12728429	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36959	12728429	146410234	7922	10068											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405358.4_Missense_Mutation_p.S365F|ETV1_ENST00000399357.3_Missense_Mutation_p.S248F|ETV1_ENST00000403685.1_Missense_Mutation_p.S333F|ETV1_ENST00000405218.2_Missense_Mutation_p.S351F|ETV1_ENST00000420159.2_Missense_Mutation_p.S293F|ETV1_ENST00000403527.1_Missense_Mutation_p.S311F|ETV1_ENST00000405192.2_Missense_Mutation_p.S328F|ETV1_ENST00000430479.1_Missense_Mutation_p.S351F			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"								16	65					0	0	1	0	0	A	13946113	G	A	13946113	3	1	22	1	0	0	0	0	1	0	0	0	5305	942	33	2	393	2	ETV1	7	13946113	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1217684	13946113	145192550	7923	10069											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405358.4_Intron|ETV1_ENST00000399357.3_Missense_Mutation_p.L2F|ETV1_ENST00000403685.1_Intron|ETV1_ENST00000405218.2_Intron|ETV1_ENST00000343495.5_Intron|ETV1_ENST00000403527.1_Missense_Mutation_p.L2F|ETV1_ENST00000405192.2_Intron|ETV1_ENST00000430479.1_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"								10	38					0	0	1	0	0	A	14025798	G	A	14025798	3	1	22	1	0	0	0	0	1	0	0	0	5305	971	34	2	1349	2	ETV1	7	14025798	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79685	14025798	145112865	7924	10070											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000406247.3_Missense_Mutation_p.T2P|DGKB_ENST00000399322.3_Missense_Mutation_p.T2P|DGKB_ENST00000444700.2_Missense_Mutation_p.T2P|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.T2P|DGKB_ENST00000407950.1_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													21	100					0	0	1	0	0	G	14880885	T	G	14880885	3	3	22	1	0	0	0	0	1	0	0	0	4494	1667	58	3	2525	3	DGKB	7	14880885	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	855087	14880885	144257778	7925	10071											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	191					0	0	1	0	0	C	16818722	T	C	16818722	3	2	22	1	0	0	0	0	1	0	0	0	16698	1580	55	3	539	3	TSPAN13	7	16818722	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1937837	16818722	142319941	7926	10072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	212					0	0	1	0	0	T	16834575	C	T	16834575	3	4	22	1	0	0	0	0	1	0	0	0	392	710	25	2	72	2	AGR2	7	16834575	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15853	16834575	142304088	7927	10073											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428135.3_Missense_Mutation_p.L801I|SNX13_ENST00000496855.1_5'UTR			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													55	272					9.55421e-19	1.06232e-18	1	1	0	T	17838675	G	T	17838675	3	4	22	1	0	0	0	0	1	0	0	0	14938	1029	36	2	488	2	SNX13	7	17838675	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1004100	17838675	141299988	7928	10074											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428135.3_Nonsense_Mutation_p.R758*|SNX13_ENST00000496855.1_5'UTR			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													15	64					0	0	1	0	0	A	17841237	G	A	17841237	4	1	22	1	0	0	0	0	0	1	0	0	14938	1124	39	1	621	1	SNX13	7	17841237	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2562	17841237	141297426	7929	10075											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	130					0	0	1	0	0	G	17874457	A	G	17874457	3	3	22	1	0	0	0	0	1	0	0	0	14938	372	13	3	1534	3	SNX13	7	17874457	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33220	17874457	141264206	7930	10076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	89					0	0	1	0	0	C	17915361	A	C	17915361	3	2	22	1	0	0	0	0	1	0	0	0	14938	72	3	3	2464	3	SNX13	7	17915361	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40904	17915361	141223302	7931	10077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_787082.1	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													82	405					2.47556e-37	2.97223e-37	1	1	0	A	18066654	C	A	18066654	3	1	22	1	0	0	0	0	1	0	0	0	12631	855	30	2	208	2	PRPS1L1	7	18066654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	151293	18066654	141072009	7932	10078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_787082.1	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													124	510					0	0	1	0	0	A	18067034	G	A	18067034	2	1	22	1	0	0	0	0	0	0	0	1	12631	1280	45	2		2	PRPS1L1	7	18067034	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	380	18067034	141071629	7933	10079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18630049G>A	ENST00000406451.3	+	4	496	c.346G>A	c.(346-348)Gag>Aag	p.E116K	HDAC9_ENST00000417496.2_Missense_Mutation_p.E158K|HDAC9_ENST00000456174.2_Missense_Mutation_p.E88K|HDAC9_ENST00000524023.1_Missense_Mutation_p.E85K|HDAC9_ENST00000405010.3_Missense_Mutation_p.E116K|HDAC9_ENST00000428307.2_Missense_Mutation_p.E116K|HDAC9_ENST00000441542.2_Missense_Mutation_p.E119K|HDAC9_ENST00000432645.2_Missense_Mutation_p.E116K|HDAC9_ENST00000401921.1_Missense_Mutation_p.E119K|HDAC9_ENST00000406072.1_Missense_Mutation_p.E147K	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	116					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													18	48					0	0	1	0	0	A	18630049	G	A	18630049	3	1	22	1	0	0	0	0	1	0	0	0	7055	943	33	2	365	2	HDAC9	7	18630049	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	563015	18630049	140508614	7934	10080											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18631230T>C	ENST00000406451.3	+	5	648	c.498T>C	c.(496-498)aaT>aaC	p.N166N	HDAC9_ENST00000417496.2_Silent_p.N208N|HDAC9_ENST00000456174.2_Silent_p.N138N|HDAC9_ENST00000524023.1_Silent_p.N135N|HDAC9_ENST00000405010.3_Silent_p.N166N|HDAC9_ENST00000428307.2_Silent_p.N166N|HDAC9_ENST00000441542.2_Silent_p.N169N|HDAC9_ENST00000432645.2_Silent_p.N166N|HDAC9_ENST00000401921.1_Silent_p.N169N|HDAC9_ENST00000406072.1_Silent_p.N197N	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	166					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													13	165					0	0	1	0	0	C	18631230	T	C	18631230	2	2	22	1	0	0	0	0	0	0	0	1	7055	1432	50	3		3	HDAC9	7	18631230	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1181	18631230	140507433	7935	10081											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18687510A>G	ENST00000406451.3	+	10	1279	c.1129A>G	c.(1129-1131)Agc>Ggc	p.S377G	HDAC9_ENST00000417496.2_Missense_Mutation_p.S375G|HDAC9_ENST00000456174.2_Missense_Mutation_p.S349G|HDAC9_ENST00000524023.1_Missense_Mutation_p.S300G|HDAC9_ENST00000405010.3_Missense_Mutation_p.S377G|HDAC9_ENST00000428307.2_Missense_Mutation_p.S333G|HDAC9_ENST00000441542.2_Missense_Mutation_p.S380G|HDAC9_ENST00000432645.2_Missense_Mutation_p.S377G|HDAC9_ENST00000401921.1_Missense_Mutation_p.S336G|HDAC9_ENST00000406072.1_Missense_Mutation_p.S364G	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	377					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													16	90					0	0	1	0	0	G	18687510	A	G	18687510	3	3	22	1	0	0	0	0	1	0	0	0	7055	188	7	3	1172	3	HDAC9	7	18687510	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56280	18687510	140451153	7936	10082											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18801889G>T	ENST00000406451.3	+	15	2294	c.2144G>T	c.(2143-2145)aGg>aTg	p.R715M	HDAC9_ENST00000441542.2_Missense_Mutation_p.R718M|HDAC9_ENST00000432645.2_Missense_Mutation_p.R715M|HDAC9_ENST00000401921.1_Missense_Mutation_p.R674M	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	715	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													25	109					1.42536e-11	1.52187e-11	1	1	0	T	18801889	G	T	18801889	3	4	22	1	0	0	0	0	1	0	0	0	7055	1000	35	2	2258	2	HDAC9	7	18801889	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114379	18801889	140336774	7937	10083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	207					0	0	1	0	0	T	19744544	C	T	19744544	5	4	22	1	0	0	0	0	0	0	1	0	16846	811	28	2	774	2	TWISTNB	7	19744544	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	942655	19744544	139394119	7938	10084											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	15	232					6.31663e-08	6.57865e-08	1	1	0	A	19748552	C	A	19748552	4	1	22	1	0	0	0	0	0	1	0	0	16846	922	32	2	944	2	TWISTNB	7	19748552	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4008	19748552	139390111	7939	10085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433641.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000422233.1_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													134	203					0	0	1	0	0	T	19765216	C	T	19765216	3	4	22	1	0	0	0	0	1	0	0	0	16178	884	31	1	146	1	TMEM196	7	19765216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16664	19765216	139373447	7940	10086											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	237					0	0	1	0	0	A	20199174	G	A	20199174	2	1	22	1	0	0	0	0	0	0	0	1	9189	1194	42	2		2	MACC1	7	20199174	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	433958	20199174	138939489	7941	10087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20418715A>G	ENST00000222573.3	+	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	144					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													80	304					0	0	1	0	0	G	20418715	A	G	20418715	3	3	22	1	0	0	0	0	1	0	0	0	7945	247	9	3	444	3	ITGB8	7	20418715	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	219541	20418715	138719948	7942	10088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20418775G>A	ENST00000222573.3	+	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	164	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													49	250					0	0	1	0	0	A	20418775	G	A	20418775	3	1	22	1	0	0	0	0	1	0	0	0	7945	943	33	2	504	2	ITGB8	7	20418775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	20418775	138719888	7943	10089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20420382A>C	ENST00000222573.3	+	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	243	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													42	380					0	0	1	0	0	C	20420382	A	C	20420382	3	2	22	1	0	0	0	0	1	0	0	0	7945	272	10	3	747	3	ITGB8	7	20420382	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1607	20420382	138718281	7944	10090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	157					9.04072e-19	1.00536e-18	1	1	0	T	20682918	G	T	20682918	3	4	22	1	0	0	0	0	1	0	0	0	44	1020	36	2	444	2	ABCB5	7	20682918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262536	20682918	138455745	7945	10091											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	191					1.30988e-24	1.49899e-24	1	1	0	A	20682938	C	A	20682938	3	1	22	1	0	0	0	0	1	0	0	0	44	710	25	2	464	2	ABCB5	7	20682938	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	20682938	138455725	7946	10092											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	183					0	0	1	0	0	C	20683249	T	C	20683249	2	2	22	1	0	0	0	0	0	0	0	1	44	1731	60	3		3	ABCB5	7	20683249	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	311	20683249	138455414	7947	10093											
ABCB5	340273	broad.mit.edu	37	chr7	20706381	20706382	+	Splice_Site	INS	-	-	A													ttcaatattgtattttctagINSaaaaaataatacaacaaaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20706381_20706382insA	ENST00000406935.1	+	6	918_919		c.e6-1		ABCB5_ENST00000404938.2_Intron|ABCB5_ENST00000258738.6_Intron	NM_001163993.1	NP_001157465.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5						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						GTATTTTCTAGAAAAAATAATA	0.327													12	92	---	---	---	---						A	20706382	-	A	20706381	8	5	22	1	0	1	1	0	0	0	1	0	44	956	33	0	1789	0	ABCB5	7	20706381	Splice_Site	INS	-	TCGA-IB-7651-01A-11D-2154-08	23132	20706381	138432282	7948	10094											
ABCB5	340273	broad.mit.edu	37	chr7	20793076	20793076	+	Frame_Shift_Del	DEL	A	A	-													gggctcttctccaaaaacccAaaattttattgttggatgag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20793076delA	ENST00000404938.2	+	27	4175	c.3523delA	c.(3523-3525)aafs	p.K1175fs	ABCB5_ENST00000258738.6_Frame_Shift_Del_p.K730fs	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	730					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						CCAAAAACCCAAAATTTTATT	0.393													8	400	---	---	---	---						-	20793076	A	-	20793076	7	5	22	1	0	1	0	1	0	0	0	0	44	131	5	0	3666	0	ABCB5	7	20793076	Frame_Shift_Del	DEL	A	TCGA-IB-7651-01A-11D-2154-08	86695	20793076	138345587	7949	10095											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	213					0	0	1	0	0	A	20795190	G	A	20795190	2	1	22	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	2114	20795190	138343473	7950	10096											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	475					0	0	1	0	0	A	21521598	G	A	21521598	3	1	22	1	0	0	0	0	1	0	0	0	15020	1261	44	2	1982	2	SP4	7	21521598	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	726408	21521598	137617065	7951	10097											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				34	177					0	0	1	0	0	A	21630818	G	A	21630818	3	1	22	1	0	0	0	0	1	0	0	0	4627	1290	45	2	2344	2	DNAH11	7	21630818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109220	21630818	137507845	7952	10098											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				133	537					0	0	1	0	0	A	21640477	G	A	21640477	3	1	22	1	0	0	0	0	1	0	0	0	4627	1058	37	1	3246	1	DNAH11	7	21640477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9659	21640477	137498186	7953	10099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409508.3_Nonsense_Mutation_p.R1480*|DNAH11_ENST00000465593.1_3'UTR			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				42	204					0	0	1	0	0	T	21659634	C	T	21659634	4	4	22	1	0	0	0	0	0	1	0	0	4627	876	31	1	4551	1	DNAH11	7	21659634	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19157	21659634	137479029	7954	10100											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				81	382					0	0	1	0	0	A	21678582	G	A	21678582	3	1	22	1	0	0	0	0	1	0	0	0	4627	1087	38	1	4968	1	DNAH11	7	21678582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18948	21678582	137460081	7955	10101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				43	558					0	0	1	0	0	A	21805045	G	A	21805045	5	1	22	1	0	0	0	0	0	0	1	0	4627	956	33	2	9180	2	DNAH11	7	21805045	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126463	21805045	137333618	7956	10102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	351					0	0	1	0	0	A	22190035	G	A	22190035	3	1	22	1	0	0	0	0	1	0	0	0	13099	1087	38	1	813	1	RAPGEF5	7	22190035	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	384990	22190035	136948628	7957	10103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	90					0	0	1	0	0	T	22206738	C	T	22206738	2	4	22	1	0	0	0	0	0	0	0	1	13099	523	19	1		1	RAPGEF5	7	22206738	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16703	22206738	136931925	7958	10104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475788.1_Intron|RAPGEF5_ENST00000405243.1_3'UTR|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													6	18					0	0	1	0	0	T	22233125	C	T	22233125	3	4	22	1	0	0	0	0	1	0	0	0	13099	783	27	1		1	RAPGEF5	7	22233125	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26387	22233125	136905538	7959	10105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000406575.1_Missense_Mutation_p.P46Q|IL6_ENST00000401651.1_Intron|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000401630.3_Missense_Mutation_p.P23Q|IL6_ENST00000420258.2_Missense_Mutation_p.P100Q|IL6_ENST00000407492.1_Intron|IL6_ENST00000258743.5_Missense_Mutation_p.P46Q			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													79	396					6.14238e-36	7.34322e-36	1	1	0	A	22767180	C	A	22767180	3	1	22	1	0	0	0	0	1	0	0	0	7745	594	21	2	143	2	IL6	7	22767180	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534055	22767180	136371483	7960	10106											
FAM126A	84668	broad.mit.edu	37	chr7	22985591	22985592	+	Frame_Shift_Ins	INS	-	-	T													caagattcccctgtagtttcINStttttcttttcctccagttt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22985591_22985592insT	ENST00000432176.2	-	11	1414_1415	c.1182_1183insA	c.(1180-1185)aaaaacfs	p.N395fs	FAM126A_ENST00000409923.1_3'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	395						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CCTGTAGTTTCTTTTTCTTTTC	0.406													173	822	---	---	---	---						T	22985592	-	T	22985591	7	5	22	1	0	1	1	0	0	0	0	0	5460	922	32	0	386	0	FAM126A	7	22985591	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	218411	22985591	136153072	7961	10107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	196					5.57489e-27	6.44243e-27	1	1	0	A	23236306	C	A	23236306	3	1	22	1	0	0	0	0	1	0	0	0	10823	913	32	2	548	2	NUPL2	7	23236306	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	250715	23236306	135902357	7962	10108											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453162.2_Silent_p.P266P|GPNMB_ENST00000539136.1_Silent_p.P225P|GPNMB_ENST00000381990.2_Silent_p.P324P			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													15	754					0	0	1	0	0	A	23300346	G	A	23300346	2	1	22	1	0	0	0	0	0	0	0	1	6660	1074	38	1		1	GPNMB	7	23300346	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64040	23300346	135838317	7963	10109											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	294					0	0	1	0	0	A	23391009	G	A	23391009	2	1	22	1	0	0	0	0	0	0	0	1	7619	991	35	2		2	IGF2BP3	7	23391009	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90663	23391009	135747654	7964	10110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	238					0	0	1	0	0	T	23391064	C	T	23391064	2	4	22	1	0	0	0	0	0	0	0	1	7619	738	26	2		2	IGF2BP3	7	23391064	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	23391064	135747599	7965	10111											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392502.4_5'UTR|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000474586.1_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													67	215					0	0	1	0	0	A	23556038	G	A	23556038	4	1	22	1	0	0	0	0	0	1	0	0	16494	1095	38	1	592	1	TRA2A	7	23556038	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	164974	23556038	135582625	7966	10112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000486109.1_3'UTR|CCDC126_ENST00000410069.1_Missense_Mutation_p.I5F|CCDC126_ENST00000409765.1_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													60	270					0	0	1	0	0	T	23650947	A	T	23650947	3	4	22	1	0	0	0	0	1	0	0	0	2780	101	4	5	15	5	CCDC126	7	23650947	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	94909	23650947	135487716	7967	10113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	283					1.356e-25	1.55723e-25	1	1	0	T	23749932	G	T	23749932	3	4	22	1	0	0	0	0	1	0	0	0	15352	971	34	2	30	2	STK31	7	23749932	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98985	23749932	135388731	7968	10114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433467.2_Missense_Mutation_p.D198N|STK31_ENST00000355870.3_Missense_Mutation_p.D198N|STK31_ENST00000405627.3_3'UTR|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													114	480					0	0	1	0	0	A	23775265	G	A	23775265	3	1	22	1	0	0	0	0	1	0	0	0	15352	1174	41	2	618	2	STK31	7	23775265	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25333	23775265	135363398	7969	10115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433467.2_Missense_Mutation_p.E376A|STK31_ENST00000355870.3_Missense_Mutation_p.E376A|STK31_ENST00000405627.3_3'UTR|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													39	177					0	0	1	0	0	C	23792445	A	C	23792445	3	2	22	1	0	0	0	0	1	0	0	0	15352	246	9	3	1161	3	STK31	7	23792445	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17180	23792445	135346218	7970	10116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	182					0	0	1	0	0	A	24325010	G	A	24325010	3	1	22	1	0	0	0	0	1	0	0	0	10655	1203	42	2	153	2	NPY	7	24325010	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	532565	24325010	134813653	7971	10117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	315					0	0	1	0	0	G	24329150	T	G	24329150	3	3	22	1	0	0	0	0	1	0	0	0	10655	1493	52	3	227	3	NPY	7	24329150	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4140	24329150	134809513	7972	10118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24663381C>A	ENST00000396475.2	+	3	394	c.95C>A	c.(94-96)cCt>cAt	p.P32H	MPP6_ENST00000222644.4_Missense_Mutation_p.P32H|MPP6_ENST00000409761.1_Intron	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	32	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													47	236					1.38658e-30	1.62744e-30	1	1	0	A	24663381	C	A	24663381	3	1	22	1	0	0	0	0	1	0	0	0	9787	681	24	2	97	2	MPP6	7	24663381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	334231	24663381	134475282	7973	10119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000342947.3_Missense_Mutation_p.G280E|DFNA5_ENST00000409970.1_Missense_Mutation_p.G116E|DFNA5_ENST00000409775.3_Missense_Mutation_p.G280E|DFNA5_ENST00000419307.1_Missense_Mutation_p.G116E|DFNA5_ENST00000559637.1_5'UTR			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													72	436					0	0	1	0	0	T	24749866	C	T	24749866	3	4	22	1	0	0	0	0	1	0	0	0	4482	855	30	2	671	2	DFNA5	7	24749866	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86485	24749866	134388797	7974	10120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396429.1_Silent_p.I500I|OSBPL3_ENST00000353930.1_Silent_p.I500I|OSBPL3_ENST00000409069.1_Silent_p.I469I|OSBPL3_ENST00000396431.1_Silent_p.I505I|OSBPL3_ENST00000431825.2_Silent_p.I469I|OSBPL3_ENST00000352860.1_Silent_p.I505I	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													15	503					0	0	1	0	0	A	24874243	G	A	24874243	2	1	22	1	0	0	0	0	0	0	0	1	11326	1048	37	1		1	OSBPL3	7	24874243	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124377	24874243	134264420	7975	10121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396429.1_Intron|OSBPL3_ENST00000353930.1_Intron|OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000396431.1_Missense_Mutation_p.D378N|OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000352860.1_Missense_Mutation_p.D378N	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													84	589					0	0	1	0	0	T	24888729	C	T	24888729	3	4	22	1	0	0	0	0	1	0	0	0	11326	884	31	1	1486	1	OSBPL3	7	24888729	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14486	24888729	134249934	7976	10122											
C7orf31	136895	broad.mit.edu	37	chr7	25175698	25175698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaattgatttatggaaacGcttttgtgcaccagtttttg	9	5	0	2	rs143176585	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:25175698G>A	ENST00000409280.1	-	10	1974	c.1666C>T	c.(1666-1668)Cgt>Tgt	p.R556C	C7orf31_ENST00000283905.3_Missense_Mutation_p.R556C			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	556										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TTATGGAAACGCTTTTGTGCA	0.413													111	470					0	0	1	0	0	A	25175698	G	A	25175698	3	1	22	1	0	0	0	0	1	0	0	0	2403	1087	38	1	110	1	C7orf31	7	25175698	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	286969	25175698	133962965	7977	10123											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	232					1.47197e-15	1.61021e-15	1	1	0	T	25181949	G	T	25181949	3	4	22	1	0	0	0	0	1	0	0	0	2403	933	33	2	918	2	C7orf31	7	25181949	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6251	25181949	133956714	7978	10124											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	358					0	0	1	0	0	C	26225340	A	C	26225340	2	2	22	1	0	0	0	0	0	0	0	1	10416	410	15	3		3	NFE2L3	7	26225340	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1043391	26225340	132913323	7979	10125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000497498.1_3'UTR|CBX3_ENST00000409747.1_3'UTR|CBX3_ENST00000396386.2_Silent_p.I127I	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													59	249					0	0	1	0	0	C	26251332	T	C	26251332	2	2	22	1	0	0	0	0	0	0	0	1	2737	1800	63	3		3	CBX3	7	26251332	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25992	26251332	132887331	7980	10126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446848.2_Missense_Mutation_p.K105N|SNX10_ENST00000409367.1_Missense_Mutation_p.K39N|SNX10_ENST00000396376.1_Missense_Mutation_p.K79N|SNX10_ENST00000409838.1_5'UTR	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)	44	174					0	0	1	0	0	C	26404691	A	C	26404691	3	2	22	1	0	0	0	0	1	0	0	0	14935	11	1	3	251	3	SNX10	7	26404691	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	153359	26404691	132733972	7981	10127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_Missense_Mutation_p.R52H	NM_005522.4	NP_005513.1	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	79	435					0	0	1	0	0	T	27135377	C	T	27135377	3	4	22	1	0	0	0	0	1	0	0	0	7329	768	27	1	860	1	HOXA1	7	27135377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	730686	27135377	132003286	7982	10128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	519					0	0	1	0	0	T	27140427	C	T	27140427	3	4	22	1	0	0	0	0	1	0	0	0	7333	565	20	2	85	2	HOXA2	7	27140427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5050	27140427	131998236	7983	10129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Silent_p.P358P	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													33	126					0	0	1	0	0	C	27147792	T	C	27147792	2	2	22	1	0	0	0	0	0	0	0	1	7334	1683	59	3		3	HOXA3	7	27147792	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7365	27147792	131990871	7984	10130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Silent_p.S293S	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													69	280					0	0	1	0	0	T	27147987	C	T	27147987	2	4	22	1	0	0	0	0	0	0	0	1	7334	755	27	1		1	HOXA3	7	27147987	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195	27147987	131990676	7985	10131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.A38T	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													29	146					0	0	1	0	0	T	27150148	C	T	27150148	3	4	22	1	0	0	0	0	1	0	0	0	7334	768	27	1	1227	1	HOXA3	7	27150148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2161	27150148	131988515	7986	10132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	HOXA4_ENST00000428284.2_Missense_Mutation_p.H274Y|HOXA3_ENST00000467897.2_5'UTR|HOXA-AS2_ENST00000521159.1_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													10	622					0	0	1	0	0	A	27168987	G	A	27168987	3	1	22	1	0	0	0	0	1	0	0	0	7335	1348	47	2	146	2	HOXA4	7	27168987	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18839	27168987	131969676	7987	10133											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	HOXA-AS3_ENST00000518848.1_RNA|HOXA4_ENST00000428284.2_Silent_p.K16K|HOXA3_ENST00000467897.2_Intron|HOXA-AS2_ENST00000521159.1_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													17	73					0	0	1	0	0	T	27170305	C	T	27170305	2	4	22	1	0	0	0	0	0	0	0	1	7335	564	20	2		2	HOXA4	7	27170305	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1318	27170305	131968358	7988	10134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518848.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000521197.1_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													79	377					9.04243e-43	1.10195e-42	1	1	0	A	27182814	C	A	27182814	3	1	22	1	0	0	0	0	1	0	0	0	7336	797	28	2	407	2	HOXA5	7	27182814	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12509	27182814	131955849	7989	10135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	658					0	0	1	0	0	A	27194583	G	A	27194583	3	1	22	1	0	0	0	0	1	0	0	0	7338	1087	38	1	58	1	HOXA7	7	27194583	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11769	27194583	131944080	7990	10136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000470747.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000396345.1_Silent_p.A102A	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*								21	87					0	0	1	0	0	T	27204771	C	T	27204771	2	4	22	1	0	0	0	0	0	0	0	1	7339	755	27	1		1	HOXA9	7	27204771	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10188	27204771	131933892	7991	10137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								115	525					0	0	1	0	0	A	27222562	G	A	27222562	2	1	22	1	0	0	0	0	0	0	0	1	7331	1372	48	2		2	HOXA11	7	27222562	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17791	27222562	131916101	7992	10138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								59	232					0	0	1	0	0	A	27239044	G	A	27239044	3	1	22	1	0	0	0	0	1	0	0	0	7332	1203	42	2	521	2	HOXA13	7	27239044	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16482	27239044	131899619	7993	10139											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000222761.3_Intron|EVX1_ENST00000535619.1_Intron|EVX1-AS_ENST00000519218.1_RNA|EVX1-AS_ENST00000517726.1_RNA			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													13	174					0	0	1	0	0	G	27283025	A	G	27283025	3	3	22	1	0	0	0	0	1	0	0	0	5321	304	11	3	378	3	EVX1	7	27283025	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	43981	27283025	131855638	7994	10140											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000222761.3_Silent_p.A160A|EVX1_ENST00000535619.1_5'UTR|EVX1-AS_ENST00000517726.1_RNA			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													99	368					0	0	1	0	0	A	27284774	G	A	27284774	3	1	22	1	0	0	0	0	1	0	0	0	5321	1087	38	1	541	1	EVX1	7	27284774	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1749	27284774	131853889	7995	10141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	114					9.65021e-13	1.03847e-12	1	1	0	T	27565856	G	T	27565856	3	4	22	1	0	0	0	0	1	0	0	0	7140	991	35	2	26	2	HIBADH	7	27565856	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	281082	27565856	131572807	7996	10142											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	426					0	0	1	0	0	T	27669044	C	T	27669044	3	4	22	1	0	0	0	0	1	0	0	0	7140	739	26	2	600	2	HIBADH	7	27669044	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103188	27669044	131469619	7997	10143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409980.1_Silent_p.L85L|TAX1BP1_ENST00000543117.1_Silent_p.L85L|TAX1BP1_ENST00000433216.2_5'UTR|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													10	357					0	0	1	0	0	T	27797740	C	T	27797740	2	4	22	1	0	0	0	0	0	0	0	1	15651	564	20	2		2	TAX1BP1	7	27797740	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128696	27797740	131340923	7998	10144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409980.1_Missense_Mutation_p.A245S|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.A245S|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.A88S|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													45	215					1.00776e-21	1.13667e-21	1	1	0	T	27824902	G	T	27824902	3	4	22	1	0	0	0	0	1	0	0	0	15651	971	34	2	751	2	TAX1BP1	7	27824902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27162	27824902	131313761	7999	10145											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								5	186					0	0	1	0	0	T	28220184	C	T	28220184	3	4	22	1	0	0	0	0	1	0	0	0	7990	768	27	1	738	1	JAZF1	7	28220184	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	395282	28220184	130918479	8000	10146											
CREB5	9586	broad.mit.edu	37	chr7	28844112	28844112	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagacctcgccacatccGcccctgcacaccggcaacca	6	22	0	1	rs61736232	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:28844112G>A	ENST00000357727.2	+	8	1389	c.999G>A	c.(997-999)ccG>ccA	p.P333P	CREB5_ENST00000396300.2_Silent_p.P326P|CREB5_ENST00000409603.1_Silent_p.P300P|CREB5_ENST00000396299.2_Silent_p.P300P|CREB5_ENST00000396298.2_Silent_p.P194P	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	333					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						CGCCACATCCGCCCCTGCACA	0.542													35	787					0	0	1	0	0	A	28844112	G	A	28844112	2	1	22	1	0	0	0	0	0	0	0	1	3883	1074	38	1		1	CREB5	7	28844112	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	623928	28844112	130294551	8001	10147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000439711.2_Missense_Mutation_p.L245R|CHN2_ENST00000546235.1_Missense_Mutation_p.L412R|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000435288.2_Missense_Mutation_p.L151R|CHN2_ENST00000495789.2_Missense_Mutation_p.L440R|CHN2_ENST00000409041.4_Missense_Mutation_p.L291R|CHN2_ENST00000539406.1_Missense_Mutation_p.L502R|CHN2_ENST00000424025.2_Missense_Mutation_p.L246R|CHN2_ENST00000421775.2_Missense_Mutation_p.L233R|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													73	300					0	0	1	0	0	G	29552224	T	G	29552224	3	3	22	1	0	0	0	0	1	0	0	0	3385	1580	55	3	1498	3	CHN2	7	29552224	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	708112	29552224	129586439	8002	10148											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000416113.2_Missense_Mutation_p.A222V|SCRN1_ENST00000409497.1_Missense_Mutation_p.A396V|SCRN1_ENST00000242059.5_Missense_Mutation_p.A396V	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													124	516					0	0	1	0	0	A	29963631	G	A	29963631	3	1	22	1	0	0	0	0	1	0	0	0	13992	1087	38	1	61	1	SCRN1	7	29963631	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	411407	29963631	129175032	8003	10149											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000416113.2_Nonsense_Mutation_p.E200*|SCRN1_ENST00000409497.1_Nonsense_Mutation_p.E374*|SCRN1_ENST00000242059.5_Nonsense_Mutation_p.E374*	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													82	321					3.26865e-45	4.00579e-45	1	1	0	A	29963698	C	A	29963698	4	1	22	1	0	0	0	0	0	1	0	0	13992	864	30	2	128	2	SCRN1	7	29963698	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67	29963698	129174965	8004	10150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000416113.2_Missense_Mutation_p.G63E|SCRN1_ENST00000409497.1_Missense_Mutation_p.G172E|SCRN1_ENST00000242059.5_Missense_Mutation_p.G172E	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													90	419					0	0	1	0	0	T	29983622	C	T	29983622	3	4	22	1	0	0	0	0	1	0	0	0	13992	623	22	2	749	2	SCRN1	7	29983622	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19924	29983622	129155041	8005	10151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000494620.1_5'UTR|SCRN1_ENST00000416113.2_Missense_Mutation_p.A17D|SCRN1_ENST00000409497.1_Missense_Mutation_p.A126D|SCRN1_ENST00000242059.5_Missense_Mutation_p.A126D	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													64	311					3.07281e-33	3.63882e-33	1	1	0	T	29983760	G	T	29983760	3	4	22	1	0	0	0	0	1	0	0	0	13992	1203	42	2	887	2	SCRN1	7	29983760	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138	29983760	129154903	8006	10152											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396257.2_Missense_Mutation_p.L361I|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.L361I|PLEKHA8_ENST00000258679.7_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													83	375					5.25376e-55	6.56284e-55	1	1	0	A	30100541	C	A	30100541	3	1	22	1	0	0	0	0	1	0	0	0	12110	913	32	2	1119	2	PLEKHA8	7	30100541	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116781	30100541	129038122	8007	10153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	73					0.000151284	0.000153739	1	1	0	A	30174882	C	A	30174882	3	1	22	1	0	0	0	0	1	0	0	0	2407	796	28	2	132	2	C7orf41	7	30174882	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74341	30174882	128963781	8008	10154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	422					0	0	1	0	0	T	30490965	C	T	30490965	3	4	22	1	0	0	0	0	1	0	0	0	10563	739	26	2	829	2	NOD1	7	30490965	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	316083	30490965	128647698	8009	10155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	400					1.67305e-13	1.80725e-13	1	1	0	A	30491717	C	A	30491717	3	1	22	1	0	0	0	0	1	0	0	0	10563	797	28	2	1581	2	NOD1	7	30491717	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	752	30491717	128646946	8010	10156											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	383					4.4782e-45	5.48732e-45	1	1	0	T	30496420	G	T	30496420	3	4	22	1	0	0	0	0	1	0	0	0	10563	933	33	2	2787	2	NOD1	7	30496420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4703	30496420	128642243	8011	10157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	171					3.11337e-16	3.41587e-16	1	1	0	A	30638502	C	A	30638502	3	1	22	1	0	0	0	0	1	0	0	0	6282	912	32	2	319	2	GARS	7	30638502	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142082	30638502	128500161	8012	10158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30639665G>T	ENST00000389266.3	+	3	668	c.427_splice	c.e3+1	p.G143_splice		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													6	300					0.27861	0.278732	1	1	0	T	30639665	G	T	30639665	5	4	22	1	0	0	0	0	0	0	1	0	6282	1014	35	2	437	2	GARS	7	30639665	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1163	30639665	128498998	8013	10159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	297					0	0	1	0	0	A	30640803	G	A	30640803	3	1	22	1	0	0	0	0	1	0	0	0	6282	1291	45	2	570	2	GARS	7	30640803	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1138	30640803	128497860	8014	10160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	309					0	0	1	0	0	A	30656818	G	A	30656818	3	1	22	1	0	0	0	0	1	0	0	0	6282	1087	38	1	1321	1	GARS	7	30656818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16015	30656818	128481845	8015	10161											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341843.4_Missense_Mutation_p.S378P|CRHR2_ENST00000348438.4_Missense_Mutation_p.S419P|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													146	596					0	0	1	0	0	G	30693138	A	G	30693138	3	3	22	1	0	0	0	0	1	0	0	0	3895	275	10	3	65	3	CRHR2	7	30693138	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36320	30693138	128445525	8016	10162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	308					0	0	1	0	0	C	30876373	T	C	30876373	3	2	22	1	0	0	0	0	1	0	0	0	5546	1638	57	3	1258	3	FAM188B	7	30876373	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	183235	30876373	128262290	8017	10163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461424.1_3'UTR|GHRHR_ENST00000326139.2_Missense_Mutation_p.R357H			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													26	107					0	0	1	0	0	A	31016139	G	A	31016139	3	1	22	1	0	0	0	0	1	0	0	0	6415	1087	38	1	1152	1	GHRHR	7	31016139	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139766	31016139	128122524	8018	10164											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	395					0	0	1	0	0	A	31378244	G	A	31378244	2	1	22	1	0	0	0	0	0	0	0	1	10398	1194	42	2		2	NEUROD6	7	31378244	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	362105	31378244	127760419	8019	10165											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	395					0	0	1	0	0	T	31378468	C	T	31378468	3	4	22	1	0	0	0	0	1	0	0	0	10398	739	26	2	602	2	NEUROD6	7	31378468	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	224	31378468	127760195	8020	10166											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451887.2_Missense_Mutation_p.G408V|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.G382V			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	382										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCAGGCAAAGGACCAGACTCA	0.483													36	179					3.33393e-15	3.63836e-15	1	1	0	T	31618023	G	T	31618023	3	4	22	1	0	0	0	0	1	0	0	0	2782	1174	41	2	1171	2	CCDC129	7	31618023	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	239555	31618023	127520640	8021	10167											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451887.2_Missense_Mutation_p.N469T|CCDC129_ENST00000409210.1_Missense_Mutation_p.N351T|CCDC129_ENST00000407970.3_Missense_Mutation_p.N443T			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	443										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCCTTGCCAAACAGCCAGAGT	0.493													35	176					0	0	1	0	0	C	31682312	A	C	31682312	3	2	22	1	0	0	0	0	1	0	0	0	2782	43	2	3	1366	3	CCDC129	7	31682312	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	64289	31682312	127456351	8022	10168	62	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451887.2_Missense_Mutation_p.S472I|CCDC129_ENST00000409210.1_Missense_Mutation_p.S354I|CCDC129_ENST00000407970.3_Missense_Mutation_p.S446I			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	446										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AACAGCCAGAGTCCTGCTGAG	0.493													20	215					3.51602e-12	3.76992e-12	1	1	0	T	31682321	G	T	31682321	3	4	22	1	0	0	0	0	1	0	0	0	2782	1029	36	2	1375	2	CCDC129	7	31682321	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9	31682321	127456342	8023	10169	62	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451887.2_Silent_p.D493D|CCDC129_ENST00000409210.1_Silent_p.D375D|CCDC129_ENST00000407970.3_Silent_p.D467D			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	467										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CATCCCAGGACTGTCAGCTAG	0.507													70	310					0	0	1	0	0	T	31682385	C	T	31682385	2	4	22	1	0	0	0	0	0	0	0	1	2782	564	20	2		2	CCDC129	7	31682385	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64	31682385	127456278	8024	10170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	195					0	0	1	0	0	T	32598658	C	T	32598658	3	4	22	1	0	0	0	0	1	0	0	0	1226	565	20	2	835	2	AVL9	7	32598658	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	916273	32598658	126540005	8025	10171											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	336					0	0	1	0	0	A	32910180	G	A	32910180	3	1	22	1	0	0	0	0	1	0	0	0	8037	942	33	2	1226	2	KBTBD2	7	32910180	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	311522	32910180	126228483	8026	10172											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	90					0	0	1	0	0	A	34101630	G	A	34101630	3	1	22	1	0	0	0	0	1	0	0	0	1467	942	33	2	1091	2	BMPER	7	34101630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1191450	34101630	125037033	8027	10173											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	441					0	0	1	0	0	C	34118487	T	C	34118487	3	2	22	1	0	0	0	0	1	0	0	0	1467	1696	59	3	1143	3	BMPER	7	34118487	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16857	34118487	125020176	8028	10174											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	97					5.35356e-11	5.69577e-11	1	1	0	A	35284653	C	A	35284653	3	1	22	1	0	0	0	0	1	0	0	0	15716	913	32	2	802	2	TBX20	7	35284653	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1166166	35284653	123854010	8029	10175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	169					0	0	1	0	0	T	35293166	C	T	35293166	2	4	22	1	0	0	0	0	0	0	0	1	15716	755	27	1		1	TBX20	7	35293166	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8513	35293166	123845497	8030	10176											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	204					0	0	1	0	0	G	36194638	A	G	36194638	2	3	22	1	0	0	0	0	0	0	0	1	4958	175	7	3		3	EEPD1	7	36194638	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	901472	36194638	122944025	8031	10177											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													158	652					0	0	1	0	0	T	36324351	C	T	36324351	2	4	22	1	0	0	0	0	0	0	0	1	4958	535	19	1		1	EEPD1	7	36324351	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129713	36324351	122814312	8032	10178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	200					0	0	1	0	0	T	36336643	C	T	36336643	3	4	22	1	0	0	0	0	1	0	0	0	4958	739	26	2	1379	2	EEPD1	7	36336643	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12292	36336643	122802020	8033	10179											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000297063.6_Missense_Mutation_p.L466R|KIAA0895_ENST00000338533.5_Missense_Mutation_p.L453R|KIAA0895_ENST00000440378.1_Missense_Mutation_p.L463R|KIAA0895_ENST00000453212.1_Missense_Mutation_p.L221R|KIAA0895_ENST00000436884.1_Missense_Mutation_p.L363R	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													68	319					0	0	1	0	0	C	36370598	A	C	36370598	3	2	22	1	0	0	0	0	1	0	0	0	8239	304	11	3	173	3	KIAA0895	7	36370598	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33955	36370598	122768065	8034	10180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000297063.6_Missense_Mutation_p.D431Y|KIAA0895_ENST00000338533.5_Missense_Mutation_p.D418Y|KIAA0895_ENST00000440378.1_Missense_Mutation_p.D428Y|KIAA0895_ENST00000453212.1_Missense_Mutation_p.D186Y|KIAA0895_ENST00000436884.1_Missense_Mutation_p.D328Y|KIAA0895_ENST00000480192.1_5'UTR	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													28	357					4.87955e-14	5.28594e-14	1	1	0	A	36373480	C	A	36373480	3	1	22	1	0	0	0	0	1	0	0	0	8239	826	29	2	283	2	KIAA0895	7	36373480	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2882	36373480	122765183	8035	10181											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													201	956					0	0	1	0	0	A	36446155	G	A	36446155	3	1	22	1	0	0	0	0	1	0	0	0	688	1319	46	2	867	2	ANLN	7	36446155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72675	36446155	122692508	8036	10182											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	117					0	0	1	0	0	A	36464161	G	A	36464161	3	1	22	1	0	0	0	0	1	0	0	0	688	1377	48	2	2673	2	ANLN	7	36464161	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18006	36464161	122674502	8037	10183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	228					8.72158e-25	9.98758e-25	1	1	0	A	36489433	C	A	36489433	3	1	22	1	0	0	0	0	1	0	0	0	688	565	20	2	3328	2	ANLN	7	36489433	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25272	36489433	122649230	8038	10184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341056.3_Silent_p.C428C|ELMO1_ENST00000396040.2_Silent_p.C246C|ELMO1_ENST00000448602.1_Silent_p.C726C|ELMO1_ENST00000442504.1_Silent_p.C726C|ELMO1_ENST00000396045.3_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													23	571					0	0	1	0	0	G	36895162	A	G	36895162	2	3	22	1	0	0	0	0	0	0	0	1	5093	389	14	3		3	ELMO1	7	36895162	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	405729	36895162	122243501	8039	10185											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341056.3_Missense_Mutation_p.F356C|ELMO1_ENST00000396040.2_Missense_Mutation_p.F174C|ELMO1_ENST00000448602.1_Missense_Mutation_p.F654C|ELMO1_ENST00000442504.1_Missense_Mutation_p.F654C|ELMO1_ENST00000396045.3_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													154	617					0	0	1	0	0	C	36901286	A	C	36901286	3	2	22	1	0	0	0	0	1	0	0	0	5093	246	9	3	230	3	ELMO1	7	36901286	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6124	36901286	122237377	8040	10186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448602.1_Missense_Mutation_p.D194V|ELMO1_ENST00000442504.1_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													34	182					0	0	1	0	0	A	37264604	T	A	37264604	3	1	22	1	0	0	0	0	1	0	0	0	5093	1667	58	5	1658	5	ELMO1	7	37264604	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	363318	37264604	121874059	8041	10187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_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													14	431					0	0	1	0	0	T	37780137	C	T	37780137	3	4	22	1	0	0	0	0	1	0	0	0	6689	643	23	1	144	1	GPR141	7	37780137	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	515533	37780137	121358526	8042	10188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	283					0	0	1	0	0	A	37955920	G	A	37955920	3	1	22	1	0	0	0	0	1	0	0	0	14217	1087	38	1	844	1	SFRP4	7	37955920	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	175783	37955920	121182743	8043	10189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37988649C>A	ENST00000199448.4	+	2	856	c.478_splice	c.e2+1	p.S159_splice	EPDR1_ENST00000425345.1_Splice_Site_p.S98_splice|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000476620.1_Splice_Site_p.S57_splice|EPDR1_ENST00000559325.1_Splice_Site_p.S279_splice	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													66	251					4.13886e-29	4.83036e-29	1	1	0	A	37988649	C	A	37988649	5	1	22	1	0	0	0	0	0	0	1	0	5191	695	24	2	843	2	EPDR1	7	37988649	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32729	37988649	121150014	8044	10190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434197.1_Missense_Mutation_p.R107Q|STARD3NL_ENST00000544203.1_Missense_Mutation_p.R100Q|STARD3NL_ENST00000396013.1_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													49	216					0	0	1	0	0	A	38254645	G	A	38254645	3	1	22	1	0	0	0	0	1	0	0	0	15314	1058	37	1	330	1	STARD3NL	7	38254645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	265996	38254645	120884018	8045	10191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	181					0	0	1	0	0	A	38475924	G	A	38475924	3	1	22	1	0	0	0	0	1	0	0	0	584	1232	43	2	1045	2	AMPH	7	38475924	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	221279	38475924	120662739	8046	10192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	457					0	0	1	0	0	T	38502604	C	T	38502604	3	4	22	1	0	0	0	0	1	0	0	0	584	768	27	1	1276	1	AMPH	7	38502604	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26680	38502604	120636059	8047	10193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	430					5.90632e-09	6.19411e-09	1	1	0	A	38543262	C	A	38543262	3	1	22	1	0	0	0	0	1	0	0	0	584	797	28	2	1970	2	AMPH	7	38543262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40658	38543262	120595401	8048	10194											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	272					5.82388e-19	6.47979e-19	1	1	0	T	39991439	G	T	39991439	3	4	22	1	0	0	0	0	1	0	0	0	3151	971	34	2	1201	2	CDK13	7	39991439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1448177	39991439	119147224	8049	10195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000335693.4_Missense_Mutation_p.D156A|C7orf10_ENST00000401647.2_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													139	695					0	0	1	0	0	C	40234621	A	C	40234621	3	2	22	1	0	0	0	0	1	0	0	0	2392	290	10	3		3	C7orf10	7	40234621	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	243182	40234621	118904042	8050	10196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000335693.4_Missense_Mutation_p.D306Y|C7orf10_ENST00000401647.2_Missense_Mutation_p.D258Y	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													26	131					7.92952e-12	8.47903e-12	1	1	0	T	40498706	G	T	40498706	3	4	22	1	0	0	0	0	1	0	0	0	2392	1174	41	2	847	2	C7orf10	7	40498706	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	264085	40498706	118639957	8051	10197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				173	646					0	0	1	0	0	T	42005103	C	T	42005103	3	4	22	1	0	0	0	0	1	0	0	0	6481	768	27	1	1178	1	GLI3	7	42005103	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1506397	42005103	117133560	8052	10198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				163	814					0	0	1	0	0	A	42005127	G	A	42005127	3	1	22	1	0	0	0	0	1	0	0	0	6481	1086	38	1	1202	1	GLI3	7	42005127	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24	42005127	117133536	8053	10199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				36	140					1.49673e-21	1.68722e-21	1	1	0	T	42005592	G	T	42005592	3	4	22	1	0	0	0	0	1	0	0	0	6481	1000	35	2	1667	2	GLI3	7	42005592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	465	42005592	117133071	8054	10200											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438029.1_Missense_Mutation_p.T364M|C7orf25_ENST00000431882.2_Missense_Mutation_p.T422M|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_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													43	304					0	0	1	0	0	A	42949409	G	A	42949409	3	1	22	1	0	0	0	0	1	0	0	0	2396	1145	40	1	178	1	C7orf25	7	42949409	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	943817	42949409	116189254	8055	10201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438029.1_Silent_p.Q221Q|C7orf25_ENST00000431882.2_Silent_p.Q279Q|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_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													58	240					0	0	1	0	0	T	42949837	C	T	42949837	2	4	22	1	0	0	0	0	0	0	0	1	2396	680	24	2		2	C7orf25	7	42949837	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	428	42949837	116188826	8056	10202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438029.1_Missense_Mutation_p.V193I|C7orf25_ENST00000431882.2_Missense_Mutation_p.V251I|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_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													60	288					0	0	1	0	0	T	42949923	C	T	42949923	3	4	22	1	0	0	0	0	1	0	0	0	2396	565	20	2	692	2	C7orf25	7	42949923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86	42949923	116188740	8057	10203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438029.1_Missense_Mutation_p.S66N|C7orf25_ENST00000431882.2_Missense_Mutation_p.S124N|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_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													152	603					0	0	1	0	0	T	42950303	C	T	42950303	3	4	22	1	0	0	0	0	1	0	0	0	2396	797	28	2	1072	2	C7orf25	7	42950303	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	380	42950303	116188360	8058	10204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	192					7.47603e-22	8.43918e-22	1	1	0	A	42957219	C	A	42957219	3	1	22	1	0	0	0	0	1	0	0	0	12716	681	24	2	49	2	PSMA2	7	42957219	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6916	42957219	116181444	8059	10205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43483972G>C	ENST00000395891.1	+	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	401					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													44	227					0	0	1	0	0	C	43483972	G	C	43483972	3	2	22	1	0	0	0	0	1	0	0	0	7083	1377	48	5	1235	5	HECW1	7	43483972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	526753	43483972	115654691	8060	10206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484384C>A	ENST00000395891.1	+	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	538					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													10	270					1.58986e-06	1.64048e-06	1	1	0	A	43484384	C	A	43484384	3	1	22	1	0	0	0	0	1	0	0	0	7083	681	24	2	1647	2	HECW1	7	43484384	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	412	43484384	115654279	8061	10207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484460C>T	ENST00000395891.1	+	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	563					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													70	388					0	0	1	0	0	T	43484460	C	T	43484460	2	4	22	1	0	0	0	0	0	0	0	1	7083	845	30	2		2	HECW1	7	43484460	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76	43484460	115654203	8062	10208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484963C>T	ENST00000395891.1	+	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	731					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													29	606					0	0	1	0	0	T	43484963	C	T	43484963	3	4	22	1	0	0	0	0	1	0	0	0	7083	536	19	1	2226	1	HECW1	7	43484963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	503	43484963	115653700	8063	10209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43490509C>T	ENST00000395891.1	+	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	827					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													9	300					0	0	1	0	0	T	43490509	C	T	43490509	2	4	22	1	0	0	0	0	0	0	0	1	7083	874	31	1		1	HECW1	7	43490509	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5546	43490509	115648154	8064	10210											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43590119C>T	ENST00000395891.1	+	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	1442	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													16	100					0	0	1	0	0	T	43590119	C	T	43590119	3	4	22	1	0	0	0	0	1	0	0	0	7083	768	27	1	4422	1	HECW1	7	43590119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99610	43590119	115548544	8065	10211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													234	1130					0	0	1	0	0	T	43843295	C	T	43843295	3	4	22	1	0	0	0	0	1	0	0	0	1450	759	27	1	503	1	BLVRA	7	43843295	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	253176	43843295	115295368	8066	10212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	268					0	0	1	0	0	A	43846790	G	A	43846790	3	1	22	1	0	0	0	0	1	0	0	0	1450	1232	43	2	873	2	BLVRA	7	43846790	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3495	43846790	115291873	8067	10213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453200.1_Silent_p.T667T|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Silent_p.T624T|URGCP_ENST00000447717.3_Silent_p.T624T|URGCP_ENST00000402306.3_Silent_p.T658T|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000443736.1_Silent_p.T624T			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													46	207					0	0	1	0	0	T	43917061	C	T	43917061	2	4	22	1	0	0	0	0	0	0	0	1	17086	755	27	1		1	URGCP	7	43917061	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70271	43917061	115221602	8068	10214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395831.3_Intron|POLM_ENST00000335195.6_Missense_Mutation_p.Q235H	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)					59	305					6.70656e-16	7.34664e-16	1	1	0	A	44118348	C	A	44118348	3	1	22	1	0	0	0	0	1	0	0	0	12254	912	32	2	807	2	POLM	7	44118348	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	201287	44118348	115020315	8069	10215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	57					0	0	1	0	0	A	44144435	G	A	44144435	2	1	22	1	0	0	0	0	0	0	0	1	348	1074	38	1		1	AEBP1	7	44144435	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26087	44144435	114994228	8070	10216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	67					3.59834e-05	3.67436e-05	1	1	0	T	44148560	G	T	44148560	4	4	22	1	0	0	0	0	0	1	0	0	348	943	33	2	1029	2	AEBP1	7	44148560	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4125	44148560	114990103	8071	10217											
AEBP1	165	broad.mit.edu	37	chr7	44148713	44148714	+	Frame_Shift_Ins	INS	-	-	A													tgcaccttccagagaaacccINSaaaaaggaggacagcagccc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44148713_44148714insA	ENST00000223357.3	+	8	1331_1332	c.1026_1027insA	c.(1024-1029)ccaaaafs	p.PK342fs	AEBP1_ENST00000454218.1_3'UTR	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	342					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						CAGAGAAACCCAAAAAGGAGGA	0.629													37	198	---	---	---	---						A	44148714	-	A	44148713	7	5	22	1	0	1	1	0	0	0	0	0	348	581	21	0	1056	0	AEBP1	7	44148713	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	153	44148713	114989950	8072	10218											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	541					0	0	1	0	0	T	44153429	C	T	44153429	4	4	22	1	0	0	0	0	0	1	0	0	348	760	27	1	3128	1	AEBP1	7	44153429	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4716	44153429	114985234	8073	10219	63	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	514					0	0	1	0	0	T	44153432	C	T	44153432	3	4	22	1	0	0	0	0	1	0	0	0	348	536	19	1	3131	1	AEBP1	7	44153432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3	44153432	114985231	8074	10220	63	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	242					0	0	1	0	0	T	44153526	C	T	44153526	3	4	22	1	0	0	0	0	1	0	0	0	348	565	20	2	3225	2	AEBP1	7	44153526	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94	44153526	114985137	8075	10221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	81					9.70103e-10	1.02402e-09	1	1	0	T	44154541	G	T	44154541	3	4	22	1	0	0	0	0	1	0	0	0	12239	1000	35	2	160	2	POLD2	7	44154541	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1015	44154541	114984122	8076	10222											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	515					0	0	1	0	0	T	44187283	C	T	44187283	3	4	22	1	0	0	0	0	1	0	0	0	6333	507	18	2	584	2	GCK	7	44187283	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32742	44187283	114951380	8077	10223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44425626C>T	ENST00000355451.6	-	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	357										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						CTGCACAGCCCCCGGGGAGAT	0.572													25	291					0	0	1	0	0	T	44425626	C	T	44425626	3	4	22	1	0	0	0	0	1	0	0	0	10772	623	22	2	19	2	NUDCD3	7	44425626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	238343	44425626	114713037	8078	10224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44467174T>G	ENST00000355451.6	-	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	213	CS.									endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						CATTACCTGCTTTCCCTTCAC	0.567													89	416					0	0	1	0	0	G	44467174	T	G	44467174	3	3	22	1	0	0	0	0	1	0	0	0	10772	1609	56	3	463	3	NUDCD3	7	44467174	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41548	44467174	114671489	8079	10225											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381160.3_Missense_Mutation_p.S982L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.S936L	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													64	290					0	0	1	0	0	A	44561319	G	A	44561319	3	1	22	1	0	0	0	0	1	0	0	0	10618	1059	37	1	1170	1	NPC1L1	7	44561319	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94145	44561319	114577344	8080	10226											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381160.3_Silent_p.S881S|NPC1L1_ENST00000546276.1_Intron	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													25	99					0	0	1	0	0	T	44561836	C	T	44561836	2	4	22	1	0	0	0	0	0	0	0	1	10618	523	19	1		1	NPC1L1	7	44561836	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	517	44561836	114576827	8081	10227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000546276.1_Missense_Mutation_p.Q492H|NPC1L1_ENST00000381160.3_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													76	298					1.38806e-43	1.69524e-43	1	1	0	A	44578520	C	A	44578520	3	1	22	1	0	0	0	0	1	0	0	0	10618	564	20	2	2679	2	NPC1L1	7	44578520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16684	44578520	114560143	8082	10228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000546276.1_Missense_Mutation_p.K107N|NPC1L1_ENST00000381160.3_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													36	252					2.75727e-19	3.0731e-19	1	1	0	A	44579675	C	A	44579675	3	1	22	1	0	0	0	0	1	0	0	0	10618	680	24	2	3834	2	NPC1L1	7	44579675	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1155	44579675	114558988	8083	10229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000546276.1_Missense_Mutation_p.G31D|NPC1L1_ENST00000381160.3_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													56	219					0	0	1	0	0	T	44579904	C	T	44579904	3	4	22	1	0	0	0	0	1	0	0	0	10618	739	26	2	4063	2	NPC1L1	7	44579904	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	229	44579904	114558759	8084	10230											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431640.1_Missense_Mutation_p.L246I|DDX56_ENST00000485367.1_5'UTR	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													55	277					7.36392e-32	8.68075e-32	1	1	0	T	44611245	G	T	44611245	3	4	22	1	0	0	0	0	1	0	0	0	4397	1000	35	2	943	2	DDX56	7	44611245	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31341	44611245	114527418	8085	10231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431640.1_Missense_Mutation_p.E161K|DDX56_ENST00000485367.1_5'UTR	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													116	552					0	0	1	0	0	T	44612246	C	T	44612246	3	4	22	1	0	0	0	0	1	0	0	0	4397	864	30	2	1206	2	DDX56	7	44612246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1001	44612246	114526417	8086	10232											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	381					0	0	1	0	0	T	44621144	C	T	44621144	2	4	22	1	0	0	0	0	0	0	0	1	16066	680	24	2		2	TMED4	7	44621144	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8898	44621144	114517519	8087	10233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443864.2_Silent_p.Q131Q|OGDH_ENST00000444676.1_Silent_p.Q131Q|OGDH_ENST00000447398.1_Silent_p.Q131Q|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000449767.1_Silent_p.Q131Q|OGDH_ENST00000543843.1_Silent_p.Q71Q	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													66	270					0	0	1	0	0	A	44685096	G	A	44685096	2	1	22	1	0	0	0	0	0	0	0	1	10887	1020	36	2		2	OGDH	7	44685096	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63952	44685096	114453567	8088	10234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443864.2_Nonsense_Mutation_p.R140*|OGDH_ENST00000444676.1_Nonsense_Mutation_p.R140*|OGDH_ENST00000447398.1_Intron|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000449767.1_Intron|OGDH_ENST00000543843.1_Intron	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													30	240					0	0	1	0	0	T	44687259	C	T	44687259	4	4	22	1	0	0	0	0	0	1	0	0	10887	528	19	1	523	1	OGDH	7	44687259	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2163	44687259	114451404	8089	10235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447398.1_Missense_Mutation_p.A997D|OGDH_ENST00000439616.2_Missense_Mutation_p.A836D|OGDH_ENST00000444676.1_Missense_Mutation_p.A1001D|OGDH_ENST00000449767.1_Missense_Mutation_p.A982D|OGDH_ENST00000543843.1_Missense_Mutation_p.A937D	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													35	377					9.17885e-22	1.03586e-21	1	1	0	A	44747483	C	A	44747483	3	1	22	1	0	0	0	0	1	0	0	0	10887	739	26	2	3216	2	OGDH	7	44747483	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60224	44747483	114391180	8090	10236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447398.1_Missense_Mutation_p.A1002V|OGDH_ENST00000439616.2_Missense_Mutation_p.A841V|OGDH_ENST00000444676.1_Missense_Mutation_p.A1006V|OGDH_ENST00000449767.1_Missense_Mutation_p.A987V|OGDH_ENST00000543843.1_Missense_Mutation_p.A942V	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													76	325					0	0	1	0	0	T	44747498	C	T	44747498	3	4	22	1	0	0	0	0	1	0	0	0	10887	768	27	1	3231	1	OGDH	7	44747498	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	44747498	114391165	8091	10237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000441627.1_Missense_Mutation_p.R702C|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R670C|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R676C|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R644C	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													40	153					0	0	1	0	0	T	44805040	C	T	44805040	3	4	22	1	0	0	0	0	1	0	0	0	17755	768	27	1	2162	1	ZMIZ2	7	44805040	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57542	44805040	114333623	8092	10238											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000441627.1_Silent_p.P888P|ZMIZ2_ENST00000433667.1_Silent_p.P856P|ZMIZ2_ENST00000265346.7_Silent_p.P862P|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000413916.1_Silent_p.P830P	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													37	221					0	0	1	0	0	A	44807123	G	A	44807123	2	1	22	1	0	0	0	0	0	0	0	1	17755	1103	39	1		1	ZMIZ2	7	44807123	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2083	44807123	114331540	8093	10239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													163	757					0	0	1	0	0	A	45009400	G	A	45009400	2	1	22	1	0	0	0	0	0	0	0	1	10122	1136	40	1		1	MYO1G	7	45009400	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	202277	45009400	114129263	8094	10240											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	231					0	0	1	0	0	A	45010479	G	A	45010479	2	1	22	1	0	0	0	0	0	0	0	1	10122	1190	42	2		2	MYO1G	7	45010479	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1079	45010479	114128184	8095	10241											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	157					0	0	1	0	0	T	45010534	C	T	45010534	3	4	22	1	0	0	0	0	1	0	0	0	10122	768	27	1	2145	1	MYO1G	7	45010534	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	45010534	114128129	8096	10242											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45104190C>T	ENST00000475551.1	+	4	1159	c.399C>T	c.(397-399)atC>atT	p.I133I	CCM2_ENST00000544363.1_Silent_p.I139I|CCM2_ENST00000258781.6_Silent_p.I139I|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000381112.3_Silent_p.I160I|CCM2_ENST00000541586.1_Silent_p.I81I|CCM2_ENST00000474617.1_Silent_p.I133I			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													28	127					0	0	1	0	0	T	45104190	C	T	45104190	2	4	22	1	0	0	0	0	0	0	0	1	2930	874	31	1		1	CCM2	7	45104190	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93656	45104190	114034473	8097	10243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45109511G>A	ENST00000475551.1	+	6	1438	c.678G>A	c.(676-678)gcG>gcA	p.A226A	CCM2_ENST00000544363.1_Intron|CCM2_ENST00000258781.6_Silent_p.A232A|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000381112.3_Silent_p.A253A|CCM2_ENST00000541586.1_Silent_p.A174A|CCM2_ENST00000474617.1_Intron			Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	232	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						TGGACAGAGCGATATTTGATG	0.607													65	379					0	0	1	0	0	A	45109511	G	A	45109511	2	1	22	1	0	0	0	0	0	0	0	1	2930	1045	37	1		1	CCM2	7	45109511	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5321	45109511	114029152	8098	10244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45113169C>T	ENST00000475551.1	+	8	1656	c.897_splice	c.e8+1	p.T299_splice	CCM2_ENST00000544363.1_Splice_Site_p.T214_splice|CCM2_ENST00000258781.6_Splice_Site_p.T305_splice|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000381112.3_Splice_Site_p.T326_splice|CCM2_ENST00000541586.1_Splice_Site_p.T247_splice|CCM2_ENST00000474617.1_Splice_Site_p.T208_splice			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													35	124					0	0	1	0	0	T	45113169	C	T	45113169	5	4	22	1	0	0	0	0	0	0	1	0	2930	550	19	1	1041	1	CCM2	7	45113169	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3658	45113169	114025494	8099	10245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361278.3_Intron|TBRG4_ENST00000395655.4_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													7	297					0	0	1	0	0	A	45144233	G	A	45144233	3	1	22	1	0	0	0	0	1	0	0	0	15709	1086	38	1	1116	1	TBRG4	7	45144233	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31064	45144233	113994430	8100	10246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361278.3_Missense_Mutation_p.W174R|TBRG4_ENST00000395655.4_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													85	358					0	0	1	0	0	G	45145255	A	G	45145255	3	3	22	1	0	0	0	0	1	0	0	0	15709	188	7	3	1411	3	TBRG4	7	45145255	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1022	45145255	113993408	8101	10247											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000471142.1_5'UTR|TBRG4_ENST00000494076.1_Nonsense_Mutation_p.R8*|TBRG4_ENST00000361278.3_Nonsense_Mutation_p.R8*|TBRG4_ENST00000395655.4_Nonsense_Mutation_p.R8*	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													31	314					0	0	1	0	0	A	45148815	G	A	45148815	4	1	22	1	0	0	0	0	0	1	0	0	15709	1095	38	1	1913	1	TBRG4	7	45148815	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3560	45148815	113989848	8102	10248											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	132					0	0	1	0	0	A	45614617	G	A	45614617	3	1	22	1	0	0	0	0	1	0	0	0	291	1087	38	1	477	1	ADCY1	7	45614617	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	465802	45614617	113524046	8103	10249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	142					0	0	1	0	0	A	45701749	G	A	45701749	3	1	22	1	0	0	0	0	1	0	0	0	291	1319	46	2	1571	2	ADCY1	7	45701749	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87132	45701749	113436914	8104	10250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	302					0	0	1	0	0	G	45753338	T	G	45753338	3	3	22	1	0	0	0	0	1	0	0	0	291	1841	64	3	3182	3	ADCY1	7	45753338	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	51589	45753338	113385325	8105	10251											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355730.3_Missense_Mutation_p.I1199V|TNS3_ENST00000311160.9_Missense_Mutation_p.I1439V			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													36	149					0	0	1	0	0	C	47317697	T	C	47317697	3	2	22	1	0	0	0	0	1	0	0	0	16404	1435	50	3	26	3	TNS3	7	47317697	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1564359	47317697	111820966	8106	10252											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355730.3_Missense_Mutation_p.G987E|TNS3_ENST00000311160.9_Missense_Mutation_p.G1227E			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													39	187					0	0	1	0	0	T	47333423	C	T	47333423	3	4	22	1	0	0	0	0	1	0	0	0	16404	855	30	2	685	2	TNS3	7	47333423	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15726	47333423	111805240	8107	10253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355730.3_Missense_Mutation_p.A817V|TNS3_ENST00000311160.9_Missense_Mutation_p.A1057V			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													18	162					0	0	1	0	0	A	47342835	G	A	47342835	3	1	22	1	0	0	0	0	1	0	0	0	16404	1087	38	1	1207	1	TNS3	7	47342835	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9412	47342835	111795828	8108	10254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355730.3_Missense_Mutation_p.K640Q|TNS3_ENST00000311160.9_Missense_Mutation_p.K880Q			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													72	283					0	0	1	0	0	G	47384365	T	G	47384365	3	3	22	1	0	0	0	0	1	0	0	0	16404	1821	63	3	1747	3	TNS3	7	47384365	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41530	47384365	111754298	8109	10255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355730.3_Missense_Mutation_p.R519W|TNS3_ENST00000311160.9_Missense_Mutation_p.R759W			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													37	1190					0	0	1	0	0	A	47407968	G	A	47407968	3	1	22	1	0	0	0	0	1	0	0	0	16404	1086	38	1	2122	1	TNS3	7	47407968	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23603	47407968	111730695	8110	10256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	112					0	0	1	0	0	G	47859172	A	G	47859172	3	3	22	1	0	0	0	0	1	0	0	0	2430	14	1	3	356	3	C7orf69	7	47859172	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	451204	47859172	111279491	8111	10257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	129					0	0	1	0	0	A	47886656	G	A	47886656	2	1	22	1	0	0	0	0	0	0	0	1	12012	958	34	2		2	PKD1L1	7	47886656	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27484	47886656	111252007	8112	10258											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	428					0	0	1	0	0	G	47906046	A	G	47906046	3	3	22	1	0	0	0	0	1	0	0	0	12012	246	9	3	4618	3	PKD1L1	7	47906046	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19390	47906046	111232617	8113	10259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	306					1.05317e-09	1.11087e-09	1	1	0	A	47933614	C	A	47933614	3	1	22	1	0	0	0	0	1	0	0	0	12012	623	22	2	6407	2	PKD1L1	7	47933614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27568	47933614	111205049	8114	10260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	334					0	0	1	0	0	T	47979804	C	T	47979804	3	4	22	1	0	0	0	0	1	0	0	0	12012	797	28	2	8498	2	PKD1L1	7	47979804	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46190	47979804	111158859	8115	10261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					51	237					0	0	1	0	0	T	48018022	C	T	48018022	3	4	22	1	0	0	0	0	1	0	0	0	7503	536	19	1	517	1	HUS1	7	48018022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38218	48018022	111120641	8116	10262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	308					0	0	1	0	0	A	48259027	G	A	48259027	3	1	22	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	8117	10263											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	389					0	0	1	0	0	A	48259051	G	A	48259051	3	1	22	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	8118	10264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	182					0	0	1	0	0	C	48311809	A	C	48311809	3	2	22	1	0	0	0	0	1	0	0	0	31	14	1	3	2441	3	ABCA13	7	48311809	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52758	48311809	110826854	8119	10265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	66					0	0	1	0	0	A	48313692	G	A	48313692	3	1	22	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	8120	10266											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	146					0	0	1	0	0	G	48314629	A	G	48314629	3	3	22	1	0	0	0	0	1	0	0	0	31	246	9	3	5261	3	ABCA13	7	48314629	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	937	48314629	110824034	8121	10267											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	95					0	0	1	0	0	T	48317894	C	T	48317894	3	4	22	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	8122	10268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	46					0	0	1	0	0	A	48378016	G	A	48378016	3	1	22	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	8123	10269											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	433					0	0	1	0	0	T	48556458	C	T	48556458	3	4	22	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	8124	10270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:49842318C>T	ENST00000340652.3	+	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	236	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													99	466					0	0	1	0	0	T	49842318	C	T	49842318	2	4	22	1	0	0	0	0	0	0	0	1	17303	776	27	1		1	VWC2	7	49842318	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1285860	49842318	109296345	8125	10271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346667.4_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.G75V|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000349824.4_Missense_Mutation_p.G75V|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000357364.4_Missense_Mutation_p.G75V|IKZF1_ENST00000359197.5_Missense_Mutation_p.G75V|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"								94	342					2.01309e-51	2.49808e-51	1	1	0	T	50444294	G	T	50444294	3	4	22	1	0	0	0	0	1	0	0	0	7658	1232	43	2	234	2	IKZF1	7	50444294	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	601976	50444294	108694369	8126	10272											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346667.4_Intron|IKZF1_ENST00000439701.1_Silent_p.I127I|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000349824.4_Silent_p.I127I|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000357364.4_Silent_p.I127I|IKZF1_ENST00000359197.5_Silent_p.I127I|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"								39	198					0	0	1	0	0	T	50444451	C	T	50444451	2	4	22	1	0	0	0	0	0	0	0	1	7658	874	31	1		1	IKZF1	7	50444451	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157	50444451	108694212	8127	10273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346667.4_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.L241I|IKZF1_ENST00000343574.5_Missense_Mutation_p.L196I|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000438033.1_Missense_Mutation_p.L196I|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000359197.5_Missense_Mutation_p.L241I|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"								18	77					3.52763e-06	3.62938e-06	1	1	0	A	50459558	C	A	50459558	3	1	22	1	0	0	0	0	1	0	0	0	7658	913	32	2	869	2	IKZF1	7	50459558	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15107	50459558	108679105	8128	10274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346667.4_Missense_Mutation_p.G255V|IKZF1_ENST00000439701.1_Missense_Mutation_p.G443V|IKZF1_ENST00000343574.5_Missense_Mutation_p.G398V|IKZF1_ENST00000349824.4_Missense_Mutation_p.G342V|IKZF1_ENST00000438033.1_Missense_Mutation_p.G398V|IKZF1_ENST00000357364.4_Missense_Mutation_p.G398V|IKZF1_ENST00000359197.5_Missense_Mutation_p.G443V|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"								45	189					2.37825e-27	2.75276e-27	1	1	0	T	50468219	G	T	50468219	3	4	22	1	0	0	0	0	1	0	0	0	7658	1203	42	2	1480	2	IKZF1	7	50468219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8661	50468219	108670444	8129	10275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398810.2_Silent_p.Q213Q|GRB10_ENST00000401949.1_Silent_p.Q271Q|GRB10_ENST00000398812.2_Silent_p.Q271Q|GRB10_ENST00000357271.5_Silent_p.Q271Q|GRB10_ENST00000407526.1_Silent_p.Q213Q|GRB10_ENST00000406641.1_Silent_p.Q213Q|GRB10_ENST00000439599.1_Silent_p.Q265Q|GRB10_ENST00000335866.3_Silent_p.Q213Q|GRB10_ENST00000402497.1_Silent_p.Q213Q|GRB10_ENST00000402578.1_Silent_p.Q213Q			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				64	249					0	0	1	0	0	T	50685801	C	T	50685801	2	4	22	1	0	0	0	0	0	0	0	1	6797	796	28	2		2	GRB10	7	50685801	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217582	50685801	108452862	8130	10276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398810.2_Missense_Mutation_p.V112G|GRB10_ENST00000401949.1_Missense_Mutation_p.V170G|GRB10_ENST00000398812.2_Missense_Mutation_p.V170G|GRB10_ENST00000357271.5_Missense_Mutation_p.V170G|GRB10_ENST00000407526.1_Missense_Mutation_p.V112G|GRB10_ENST00000406641.1_Missense_Mutation_p.V112G|GRB10_ENST00000439599.1_Missense_Mutation_p.V164G|GRB10_ENST00000335866.3_Missense_Mutation_p.V112G|GRB10_ENST00000402497.1_Missense_Mutation_p.V112G|GRB10_ENST00000402578.1_Missense_Mutation_p.V112G			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				187	815					0	0	1	0	0	C	50694671	A	C	50694671	3	2	22	1	0	0	0	0	1	0	0	0	6797	43	2	3	1323	3	GRB10	7	50694671	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8870	50694671	108443992	8131	10277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398812.2_Intron|GRB10_ENST00000357271.5_Intron|GRB10_ENST00000407526.1_Intron|GRB10_ENST00000406641.1_Intron|GRB10_ENST00000439599.1_Missense_Mutation_p.G5S|GRB10_ENST00000335866.3_Intron|GRB10_ENST00000402497.1_Intron|GRB10_ENST00000402578.1_Intron			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				84	552					0	0	1	0	0	T	50778592	C	T	50778592	3	4	22	1	0	0	0	0	1	0	0	0	6797	667	23	1		1	GRB10	7	50778592	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83921	50778592	108360071	8132	10278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													149	777					0	0	1	0	0	A	51092833	G	A	51092833	2	1	22	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	8133	10279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	538					0	0	1	0	0	A	51095503	G	A	51095503	3	1	22	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	8134	10280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	326					0	0	1	0	0	T	51096022	C	T	51096022	3	4	22	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	8135	10281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	279					0	0	1	0	0	C	51097021	T	C	51097021	3	2	22	1	0	0	0	0	1	0	0	0	3676	1783	62	3	2029	3	COBL	7	51097021	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	999	51097021	108041642	8136	10282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407838.3_Silent_p.A76A|VSTM2A_ENST00000402613.3_Silent_p.A76A|VSTM2A_ENST00000404951.1_Silent_p.A76A|VSTM2A_ENST00000402026.2_Silent_p.A75A			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													50	90					0	0	1	0	0	T	54612463	C	T	54612463	2	4	22	1	0	0	0	0	0	0	0	1	17289	639	23	1		1	VSTM2A	7	54612463	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3515442	54612463	104526200	8137	10283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395535.3_Missense_Mutation_p.K27Q|SEC61G_ENST00000352861.4_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													58	250					0	0	1	0	0	G	54825203	T	G	54825203	3	3	22	1	0	0	0	0	1	0	0	0	14057	1763	61	3	139	3	SEC61G	7	54825203	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	212740	54825203	104313460	8138	10284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.R616*|EGFR_ENST00000455089.1_Nonsense_Mutation_p.R624*	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)			73	356					0	0	1	0	0	T	55240761	C	T	55240761	4	4	22	1	0	0	0	0	0	1	0	0	4993	760	27	1	2335	1	EGFR	7	55240761	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	415558	55240761	103897902	8139	10285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442591.1_Intron|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000454757.2_Missense_Mutation_p.D747G|EGFR_ENST00000455089.1_Missense_Mutation_p.D755G	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)			75	311					0	0	1	0	0	G	55249101	A	G	55249101	3	3	22	1	0	0	0	0	1	0	0	0	4993	275	10	3	2741	3	EGFR	7	55249101	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8340	55249101	103889562	8140	10286											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	198					0	0	1	0	0	A	55459508	G	A	55459508	3	1	22	1	0	0	0	0	1	0	0	0	8660	1116	39	1	233	1	LANCL2	7	55459508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	210407	55459508	103679155	8141	10287											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	564					0	0	1	0	0	A	56007425	G	A	56007425	3	1	22	1	0	0	0	0	1	0	0	0	18173	1087	38	1	1033	1	ZNF713	7	56007425	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	547917	56007425	103131238	8142	10288											
ZNF713	349075	broad.mit.edu	37	chr7	56007462	56007462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacatcatagacttcatacCggagagaaaccttacgaatg	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56007462C>T	ENST00000429591.2	+	4	1094	c.1056C>T	c.(1054-1056)acC>acT	p.T352T	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	352					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)			GACTTCATACCGGAGAGAAAC	0.408													76	430					0	0	1	0	0	T	56007462	C	T	56007462	2	4	22	1	0	0	0	0	0	0	0	1	18173	639	23	1		1	ZNF713	7	56007462	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37	56007462	103131201	8143	10289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	351					0	0	1	0	0	A	56051523	G	A	56051523	3	1	22	1	0	0	0	0	1	0	0	0	6309	1117	39	1	569	1	GBAS	7	56051523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44061	56051523	103087140	8144	10290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	154					0	0	1	0	0	C	56125777	T	C	56125777	3	2	22	1	0	0	0	0	1	0	0	0	2979	1667	58	3	728	3	CCT6A	7	56125777	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	74254	56125777	103012886	8145	10291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	220					0	0	1	0	0	A	56151035	G	A	56151035	2	1	22	1	0	0	0	0	0	0	0	1	11894	1368	48	2		2	PHKG1	7	56151035	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25258	56151035	102987628	8146	10292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000297373.2_Missense_Mutation_p.V75A|PHKG1_ENST00000537360.1_Silent_p.G39G|PHKG1_ENST00000489604.1_5'UTR	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													32	139					0	0	1	0	0	G	56155329	A	G	56155329	3	3	22	1	0	0	0	0	1	0	0	0	11894	159	6	3	971	3	PHKG1	7	56155329	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4294	56155329	102983334	8147	10293											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000297373.2_Nonsense_Mutation_p.R36*|PHKG1_ENST00000537360.1_5'UTR|PHKG1_ENST00000489604.1_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													55	216					0	0	1	0	0	A	56155447	G	A	56155447	4	1	22	1	0	0	0	0	0	1	0	0	11894	1095	38	1	1089	1	PHKG1	7	56155447	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118	56155447	102983216	8148	10294											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	286					1.0442e-30	1.22599e-30	1	1	0	A	64168445	C	A	64168445	3	1	22	1	0	0	0	0	1	0	0	0	17773	797	28	2	1769	2	ZNF107	7	64168445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8012998	64168445	94970218	8149	10295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.I386S	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													46	178					0	0	1	0	0	G	64389058	T	G	64389058	3	3	22	1	0	0	0	0	1	0	0	0	17866	1493	52	3	1366	3	ZNF273	7	64389058	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	220613	64389058	94749605	8150	10296											
ZNF273	10793	broad.mit.edu	37	chr7	64389265	64389265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacaaatgtgaagaatgtgGcaaagcttttaaccggtcct	9	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64389265G>A	ENST00000476120.1	+	4	1630	c.1559G>A	c.(1558-1560)gGc>gAc	p.G520D	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.G455D	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	520					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)				GAAGAATGTGGCAAAGCTTTT	0.378													34	371					0	0	1	0	0	A	64389265	G	A	64389265	3	1	22	1	0	0	0	0	1	0	0	0	17866	1203	42	2	1573	2	ZNF273	7	64389265	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	207	64389265	94749398	8151	10297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64438880C>T	ENST00000282869.5	-	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	357						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													73	383					0	0	1	0	0	T	64438880	C	T	64438880	3	4	22	1	0	0	0	0	1	0	0	0	17775	603	21	2	386	2	ZNF117	7	64438880	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49615	64438880	94699783	8152	10298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000421103.1_Intron|GUSB_ENST00000345660.6_Missense_Mutation_p.K197E|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													11	406					0	0	1	0	0	C	65444521	T	C	65444521	3	2	22	1	0	0	0	0	1	0	0	0	6943	1821	63	3	1402	3	GUSB	7	65444521	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1005641	65444521	93694142	8153	10299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ASL_ENST00000395332.3_Missense_Mutation_p.R453C|ASL_ENST00000395331.3_Missense_Mutation_p.R433C|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000380839.4_Missense_Mutation_p.R427C|AC068533.7_ENST00000450043.1_Intron	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													9	312					0	0	1	0	0	T	65557861	C	T	65557861	3	4	22	1	0	0	0	0	1	0	0	0	1043	652	23	1	1419	1	ASL	7	65557861	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113340	65557861	93580802	8154	10300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	283					0	0	1	0	0	C	65706099	T	C	65706099	2	2	22	1	0	0	0	0	0	0	0	1	16488	1799	63	3		3	TPST1	7	65706099	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	148238	65706099	93432564	8155	10301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450873.2_Nonsense_Mutation_p.R346*|RABGEF1_ENST00000284957.5_Nonsense_Mutation_p.R346*|KCTD7_ENST00000510829.2_Nonsense_Mutation_p.R346*|RABGEF1_ENST00000439720.2_Nonsense_Mutation_p.R359*|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000451741.2_Nonsense_Mutation_p.R346*|RABGEF1_ENST00000437078.2_Nonsense_Mutation_p.R360*			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													41	387					0	0	1	0	0	T	66270342	C	T	66270342	4	4	22	1	0	0	0	0	0	1	0	0	8158	644	23	1		1	KCTD7	7	66270342	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	564243	66270342	92868321	8156	10302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450873.2_Missense_Mutation_p.P486S|RABGEF1_ENST00000284957.5_Missense_Mutation_p.P486S|KCTD7_ENST00000510829.2_Missense_Mutation_p.P486S|RABGEF1_ENST00000439720.2_Missense_Mutation_p.P499S|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000451741.2_Missense_Mutation_p.P486S|RABGEF1_ENST00000437078.2_Missense_Mutation_p.P500S			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													55	296					0	0	1	0	0	T	66274251	C	T	66274251	3	4	22	1	0	0	0	0	1	0	0	0	8158	507	18	2		2	KCTD7	7	66274251	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3909	66274251	92864412	8157	10303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	370					0	0	1	0	0	A	66489989	G	A	66489989	3	1	22	1	0	0	0	0	1	0	0	0	16880	1174	41	2	990	2	TYW1	7	66489989	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215738	66489989	92648674	8158	10304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	227					0	0	1	0	0	A	66514984	G	A	66514984	3	1	22	1	0	0	0	0	1	0	0	0	16880	1232	43	2	1063	2	TYW1	7	66514984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24995	66514984	92623679	8159	10305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	421					0	0	1	0	0	T	66660217	C	T	66660217	3	4	22	1	0	0	0	0	1	0	0	0	16880	710	25	2	1928	2	TYW1	7	66660217	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145233	66660217	92478446	8160	10306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	38					0	0	1	0	0	A	66767872	G	A	66767872	1	1	22	0	1	0	0	0	0	0	0	0	15303	1014	35	2		2	STAG3L4	7	66767872	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107655	66767872	92370791	8161	10307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	328					0	0	1	0	0	A	70231115	G	A	70231115	3	1	22	1	0	0	0	0	1	0	0	0	1223	1058	37	1	1663	1	AUTS2	7	70231115	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3463243	70231115	88907548	8162	10308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	313					0	0	1	0	0	A	70231305	G	A	70231305	2	1	22	1	0	0	0	0	0	0	0	1	1223	1074	38	1		1	AUTS2	7	70231305	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190	70231305	88907358	8163	10309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	199					0	0	1	0	0	A	70239029	G	A	70239029	3	1	22	1	0	0	0	0	1	0	0	0	1223	1058	37	1	2037	1	AUTS2	7	70239029	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7724	70239029	88899634	8164	10310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	86					0	0	1	0	0	A	70255978	G	A	70255978	3	1	22	1	0	0	0	0	1	0	0	0	1223	1058	37	1	3995	1	AUTS2	7	70255978	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16949	70255978	88882685	8165	10311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446813.1_Silent_p.T644T|POM121_ENST00000358357.3_Silent_p.T644T|POM121_ENST00000257622.4_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													141	282					0	0	1	0	0	A	72413259	G	A	72413259	2	1	22	1	0	0	0	0	0	0	0	1	12287	1103	39	1		1	POM121	7	72413259	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2157281	72413259	86725404	8166	10312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446813.1_Missense_Mutation_p.A710T|POM121_ENST00000358357.3_Missense_Mutation_p.A710T|POM121_ENST00000257622.4_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													96	441					0	0	1	0	0	A	72413455	G	A	72413455	3	1	22	1	0	0	0	0	1	0	0	0	12287	1087	38	1	2166	1	POM121	7	72413455	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	196	72413455	86725208	8167	10313											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446813.1_Missense_Mutation_p.F782V|POM121_ENST00000358357.3_Missense_Mutation_p.F782V|POM121_ENST00000257622.4_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													63	392					0	0	1	0	0	G	72413671	T	G	72413671	3	3	22	1	0	0	0	0	1	0	0	0	12287	1609	56	3	2382	3	POM121	7	72413671	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	216	72413671	86724992	8168	10314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438747.2_Missense_Mutation_p.A100V|NSUN5_ENST00000428206.1_Intron|NSUN5_ENST00000310326.8_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													35	111					0	0	1	0	0	A	72721672	G	A	72721672	3	1	22	1	0	0	0	0	1	0	0	0	10729	1087	38	1	1154	1	NSUN5	7	72721672	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	308001	72721672	86416991	8169	10315											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_835226.1	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													152	899					0	0	1	0	0	T	72734178	C	T	72734178	3	4	22	1	0	0	0	0	1	0	0	0	16587	768	27	1	1020	1	TRIM50	7	72734178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12506	72734178	86404485	8170	10316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000493498.1_5'UTR|TRIM50_ENST00000453152.1_Missense_Mutation_p.V60A	NM_178125.2	NP_835226.1	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)	78	331					0	0	1	0	0	G	72738607	A	G	72738607	3	3	22	1	0	0	0	0	1	0	0	0	16587	159	6	3	1308	3	TRIM50	7	72738607	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4429	72738607	86400056	8171	10317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	274					1.75199e-13	1.89187e-13	1	1	0	A	72754785	C	A	72754785	3	1	22	1	0	0	0	0	1	0	0	0	5945	797	28	2	802	2	FKBP6	7	72754785	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16178	72754785	86383878	8172	10318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	382					0	0	1	0	0	T	72849343	C	T	72849343	3	4	22	1	0	0	0	0	1	0	0	0	6172	797	28	2	1008	2	FZD9	7	72849343	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94558	72849343	86289320	8173	10319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	301					4.02929e-09	4.23443e-09	1	1	0	A	72849501	C	A	72849501	4	1	22	1	0	0	0	0	0	1	0	0	6172	805	28	2	1166	2	FZD9	7	72849501	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158	72849501	86289162	8174	10320											
BAZ1B	9031	broad.mit.edu	37	chr7	72907202	72907202	+	Frame_Shift_Del	DEL	T	T	-													ggagcccatttcctttctccTttttttaatgaagtaggaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72907202delT	ENST00000339594.4	-	5	959	c.621delA	c.(619-621)aafs	p.K207fs	BAZ1B_ENST00000404251.1_Frame_Shift_Del_p.K207fs	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	207	Mediates the tyrosine-protein kinase activity.				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)				TCCTTTCTCCTTTTTTTAATG	0.323													9	213	---	---	---	---						-	72907202	T	-	72907202	7	5	22	1	0	1	0	1	0	0	0	0	1328	1606	56	0	3890	0	BAZ1B	7	72907202	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	57701	72907202	86231461	8175	10321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000459913.1_5'UTR|TBL2_ENST00000452475.1_Missense_Mutation_p.D193N|TBL2_ENST00000432538.1_Missense_Mutation_p.D157N	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													94	490					0	0	1	0	0	T	72987671	C	T	72987671	3	4	22	1	0	0	0	0	1	0	0	0	15702	884	31	1	782	1	TBL2	7	72987671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80469	72987671	86150992	8176	10322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354613.1_Missense_Mutation_p.L677F|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L586F|MLXIPL_ENST00000434326.1_Missense_Mutation_p.L585F|MLXIPL_ENST00000429400.2_Missense_Mutation_p.L679F|MLXIPL_ENST00000414749.2_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													64	251					0	0	1	0	0	A	73010506	G	A	73010506	3	1	22	1	0	0	0	0	1	0	0	0	9685	1029	36	2	543	2	MLXIPL	7	73010506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22835	73010506	86128157	8177	10323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354613.1_Missense_Mutation_p.D367N|MLXIPL_ENST00000395189.1_Missense_Mutation_p.D274N|MLXIPL_ENST00000434326.1_Missense_Mutation_p.D274N|MLXIPL_ENST00000429400.2_Missense_Mutation_p.D367N|MLXIPL_ENST00000414749.2_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													16	195					0	0	1	0	0	T	73012016	C	T	73012016	3	4	22	1	0	0	0	0	1	0	0	0	9685	855	30	2	1495	2	MLXIPL	7	73012016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1510	73012016	86126647	8178	10324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	78					0	0	1	0	0	A	73085532	G	A	73085532	2	1	22	1	0	0	0	0	0	0	0	1	17268	1103	39	1		1	VPS37D	7	73085532	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73516	73085532	86053131	8179	10325											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73151260G>T	ENST00000222800.3	-	5	883	c.815_splice	c.e5+1	p.H272_splice	ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000395147.4_Splice_Site_p.H215_splice|ABHD11_ENST00000437775.2_Splice_Site_p.H265_splice	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													140	580					3.6619e-90	4.70048e-90	1	1	0	T	73151260	G	T	73151260	5	4	22	1	0	0	0	0	0	0	1	0	75	1333	46	2	141	2	ABHD11	7	73151260	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65728	73151260	85987403	8180	10326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	238					0	0	1	0	0	T	73183818	C	T	73183818	3	4	22	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	8181	10327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	174					0	0	1	0	0	T	73184141	C	T	73184141	3	4	22	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	8182	10328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	103					0	0	1	0	0	A	73184317	G	A	73184317	2	1	22	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	8183	10329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000320399.6_Silent_p.L226L|ELN_ENST00000320492.7_Intron|ELN_ENST00000358929.4_Silent_p.L226L|ELN_ENST00000380584.4_Intron|ELN_ENST00000380575.4_Silent_p.L216L|ELN_ENST00000445912.1_Silent_p.L226L|ELN_ENST00000380576.5_Silent_p.L226L|ELN_ENST00000429192.1_Silent_p.L231L|ELN_ENST00000414324.1_Silent_p.L221L|ELN_ENST00000380553.4_Intron|ELN_ENST00000380562.4_Silent_p.L226L|ELN_ENST00000458204.1_Silent_p.L216L	NM_000501.2	NP_000492.2	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"						10	440					0	0	1	0	0	A	73462039	G	A	73462039	2	1	22	1	0	0	0	0	0	0	0	1	5099	1306	46	2		2	ELN	7	73462039	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	277722	73462039	85676624	8184	10330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357036.5_Silent_p.Y402Y|ELN_ENST00000320399.6_Silent_p.Y397Y|ELN_ENST00000320492.7_Silent_p.Y361Y|ELN_ENST00000358929.4_Silent_p.Y397Y|ELN_ENST00000380584.4_Silent_p.Y383Y|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000380575.4_Silent_p.Y387Y|ELN_ENST00000445912.1_Silent_p.Y397Y|ELN_ENST00000380576.5_Silent_p.Y397Y|ELN_ENST00000429192.1_Silent_p.Y402Y|ELN_ENST00000414324.1_Silent_p.Y392Y|ELN_ENST00000380553.4_Silent_p.Y280Y|ELN_ENST00000380562.4_Silent_p.Y397Y|ELN_ENST00000458204.1_Silent_p.Y387Y	NM_000501.2	NP_000492.2	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"						142	634					0	0	1	0	0	T	73470641	C	T	73470641	2	4	22	1	0	0	0	0	0	0	0	1	5099	547	19	1		1	ELN	7	73470641	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8602	73470641	85668022	8185	10331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	232					0	0	1	0	0	T	73523282	C	T	73523282	2	4	22	1	0	0	0	0	0	0	0	1	8841	874	31	1		1	LIMK1	7	73523282	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52641	73523282	85615381	8186	10332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	204					0	0	1	0	0	T	73609630	C	T	73609630	4	4	22	1	0	0	0	0	0	1	0	0	5067	711	25	2	765	2	EIF4H	7	73609630	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86348	73609630	85529033	8187	10333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73664070G>A	ENST00000055077.3	-	3	284	c.225_splice	c.e3+1	p.A75_splice	RFC2_ENST00000352131.3_Splice_Site_p.A75_splice	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													19	418					0	0	1	0	0	A	73664070	G	A	73664070	5	1	22	1	0	0	0	0	0	0	1	0	13297	1101	38	1	876	1	RFC2	7	73664070	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54440	73664070	85474593	8188	10334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003379.3	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													66	356					0	0	1	0	0	A	73753262	G	A	73753262	2	1	22	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	8189	10335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003379.3	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													20	688					0	0	1	0	0	T	73768230	C	T	73768230	2	4	22	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	8190	10336											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003379.3	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													140	630					0	0	1	0	0	T	73768325	C	T	73768325	3	4	22	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	8191	10337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003379.3	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													36	173					0	0	1	0	0	T	73790432	C	T	73790432	2	4	22	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	8192	10338											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000265755.3_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000489094.1_3'UTR			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													49	232					0	0	1	0	0	G	73922483	A	G	73922483	3	3	22	1	0	0	0	0	1	0	0	0	6909	159	6	3	75	3	GTF2IRD1	7	73922483	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	132051	73922483	85216180	8193	10339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000416070.1_Missense_Mutation_p.P154L|AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000353920.4_Missense_Mutation_p.P154L|GTF2I_ENST00000346152.4_Missense_Mutation_p.P154L|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000443166.1_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													154	609					0	0	1	0	0	T	74114664	C	T	74114664	3	4	22	1	0	0	0	0	1	0	0	0	6908	652	23	1	475	1	GTF2I	7	74114664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192181	74114664	85023999	8194	10340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000416070.1_Silent_p.N164N|AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000353920.4_Silent_p.N164N|GTF2I_ENST00000346152.4_Silent_p.N164N|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000443166.1_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													154	608					0	0	1	0	0	T	74114695	C	T	74114695	2	4	22	1	0	0	0	0	0	0	0	1	6908	564	20	2		2	GTF2I	7	74114695	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	74114695	85023968	8195	10341											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001092885.1	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													10	333					0	0	1	0	0	A	75051253	G	A	75051253	3	1	22	1	0	0	0	0	1	0	0	0	12288	1145	40	1	693	1	POM121C	7	75051253	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	936558	75051253	84087410	8196	10342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								48	211					0	0	1	0	0	T	75182880	C	T	75182880	3	4	22	1	0	0	0	0	1	0	0	0	7155	893	31	1	986	1	HIP1	7	75182880	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131627	75182880	83955783	8197	10343											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								15	199					2.31682e-05	2.36778e-05	1	1	0	T	75184851	G	T	75184851	3	4	22	1	0	0	0	0	1	0	0	0	7155	942	33	2	1333	2	HIP1	7	75184851	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1971	75184851	83953812	8198	10344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								72	355					3.71121e-27	4.29247e-27	1	1	0	A	75187529	C	A	75187529	3	1	22	1	0	0	0	0	1	0	0	0	7155	797	28	2	1775	2	HIP1	7	75187529	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2678	75187529	83951134	8199	10345											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								90	419					2.1089e-46	2.5903e-46	1	1	0	A	75221405	C	A	75221405	3	1	22	1	0	0	0	0	1	0	0	0	7155	913	32	2	2872	2	HIP1	7	75221405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33876	75221405	83917258	8200	10346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	237					0	0	1	0	0	T	75441154	C	T	75441154	3	4	22	1	0	0	0	0	1	0	0	0	2916	739	26	2	41	2	CCL24	7	75441154	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219749	75441154	83697509	8201	10347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													143	622					0	0	1	0	0	T	75511175	C	T	75511175	2	4	22	1	0	0	0	0	0	0	0	1	13367	900	32	2		2	RHBDD2	7	75511175	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70021	75511175	83627488	8202	10348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461988.1_Intron|POR_ENST00000419840.1_Intron|POR_ENST00000394893.1_Intron|POR_ENST00000545601.1_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													62	251					0	0	1	0	0	A	75609862	G	A	75609862	3	1	22	1	0	0	0	0	1	0	0	0	12305	1189	41	2		2	POR	7	75609862	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98687	75609862	83528801	8203	10349											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461988.1_Intron|POR_ENST00000419840.1_Intron|POR_ENST00000394893.1_Intron|POR_ENST00000545601.1_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													47	197					0	0	1	0	0	C	75609877	T	C	75609877	3	2	22	1	0	0	0	0	1	0	0	0	12305	1653	57	3		3	POR	7	75609877	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15	75609877	83528786	8204	10350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													3	28					0	0	1	0	0	T	75616720	C	T	75616720	1	4	22	0	1	0	0	0	0	0	0	0	16093	523	19	1		1	TMEM120A	7	75616720	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6843	75616720	83521943	8205	10351											
MDH2	4191	broad.mit.edu	37	chr7	75684225	75684226	+	Frame_Shift_Ins	INS	-	-	A													ttctcctgaagaacagccccINSttggtgagccgcctgaccct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75684225_75684226insA	ENST00000315758.5	+	2	238_239	c.144_145insA	c.(142-147)cctggtfs	p.G49fs	MDH2_ENST00000443006.1_Intron|MDH2_ENST00000490105.1_3'UTR|MDH2_ENST00000432020.2_Frame_Shift_Ins_p.G49fs	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	49					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	AGAACAGCCCCTTGGTGAGCCG	0.564													20	820	---	---	---	---						A	75684226	-	A	75684225	7	5	22	1	0	1	1	0	0	0	0	0	9460	668	24	0	150	0	MDH2	7	75684225	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	67505	75684225	83454438	8206	10352											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	245					0	0	1	0	0	T	75959524	C	T	75959524	2	4	22	1	0	0	0	0	0	0	0	1	17563	871	31	1		1	YWHAG	7	75959524	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	275299	75959524	83179139	8207	10353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	302					0	0	1	0	0	A	76024632	G	A	76024632	3	1	22	1	0	0	0	0	1	0	0	0	15193	1145	40	1	863	1	SRCRB4D	7	76024632	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65108	76024632	83114031	8208	10354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000430490.2_Missense_Mutation_p.K164N|DTX2_ENST00000446600.1_Missense_Mutation_p.K73N|DTX2_ENST00000413936.2_Missense_Mutation_p.K164N|DTX2_ENST00000307569.8_Missense_Mutation_p.K164N|DTX2_ENST00000446820.2_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													27	261					1.77063e-15	1.9355e-15	1	1	0	T	76112048	G	T	76112048	3	4	22	1	0	0	0	0	1	0	0	0	4820	933	33	2	498	2	DTX2	7	76112048	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87416	76112048	83026615	8209	10355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000430490.2_Missense_Mutation_p.L452M|DTX2_ENST00000446600.1_Missense_Mutation_p.L361M|DTX2_ENST00000413936.2_Missense_Mutation_p.L452M|DTX2_ENST00000307569.8_Missense_Mutation_p.L405M|DTX2_ENST00000446820.2_Missense_Mutation_p.L405M	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													44	146					1.51926e-22	1.72e-22	1	1	0	A	76131738	C	A	76131738	3	1	22	1	0	0	0	0	1	0	0	0	4820	796	28	2	1376	2	DTX2	7	76131738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19690	76131738	83006925	8210	10356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000430490.2_Missense_Mutation_p.A456T|DTX2_ENST00000446600.1_Missense_Mutation_p.A365T|DTX2_ENST00000413936.2_Missense_Mutation_p.A456T|DTX2_ENST00000307569.8_Missense_Mutation_p.A409T|DTX2_ENST00000446820.2_Missense_Mutation_p.A409T	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													47	140					0	0	1	0	0	A	76131750	G	A	76131750	3	1	22	1	0	0	0	0	1	0	0	0	4820	1203	42	2	1388	2	DTX2	7	76131750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12	76131750	83006913	8211	10357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	71					0	0	1	0	0	A	77166902	G	A	77166902	2	1	22	1	0	0	0	0	0	0	0	1	12831	1223	43	2		2	PTPN12	7	77166902	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1035152	77166902	81971761	8212	10358											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422959.2_Missense_Mutation_p.A496S|PHTF2_ENST00000248550.7_Missense_Mutation_p.A530S	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													42	197					1.49673e-21	1.68722e-21	1	1	0	T	77569467	G	T	77569467	3	4	22	1	0	0	0	0	1	0	0	0	11911	971	34	2	1586	2	PHTF2	7	77569467	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	402565	77569467	81569196	8213	10359											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	441					0	0	1	0	0	G	77649134	T	G	77649134	3	3	22	1	0	0	0	0	1	0	0	0	9241	1841	64	3	505	3	MAGI2	7	77649134	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	79667	77649134	81489529	8214	10360											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	563					0	0	1	0	0	G	77756523	T	G	77756523	3	3	22	1	0	0	0	0	1	0	0	0	9241	1664	58	3	969	3	MAGI2	7	77756523	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	107389	77756523	81382140	8215	10361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	249					0	0	1	0	0	T	77789563	C	T	77789563	3	4	22	1	0	0	0	0	1	0	0	0	9241	565	20	2	1771	2	MAGI2	7	77789563	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33040	77789563	81349100	8216	10362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536571.1_Missense_Mutation_p.P345S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P350S|MAGI2_ENST00000419488.1_Missense_Mutation_p.P513S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P513S	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													24	138					0	0	1	0	0	A	77885770	G	A	77885770	3	1	22	1	0	0	0	0	1	0	0	0	9241	1203	42	2	2882	2	MAGI2	7	77885770	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96207	77885770	81252893	8217	10363											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536571.1_Missense_Mutation_p.D248G|MAGI2_ENST00000535697.1_Missense_Mutation_p.D253G|MAGI2_ENST00000419488.1_Missense_Mutation_p.D416G|MAGI2_ENST00000522391.1_Missense_Mutation_p.D416G	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													14	283					0	0	1	0	0	C	77973256	T	C	77973256	3	2	22	1	0	0	0	0	1	0	0	0	9241	1435	50	3	3176	3	MAGI2	7	77973256	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	87486	77973256	81165407	8218	10364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536571.1_Missense_Mutation_p.P211S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P216S|MAGI2_ENST00000419488.1_Missense_Mutation_p.P379S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P379S	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													79	371					0	0	1	0	0	A	77975329	G	A	77975329	3	1	22	1	0	0	0	0	1	0	0	0	9241	1174	41	2	3292	2	MAGI2	7	77975329	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2073	77975329	81163334	8219	10365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536571.1_Silent_p.D129D|MAGI2_ENST00000535697.1_Silent_p.D134D|MAGI2_ENST00000419488.1_Silent_p.D297D|MAGI2_ENST00000522391.1_Silent_p.D297D	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													93	430					0	0	1	0	0	A	78130968	G	A	78130968	2	1	22	1	0	0	0	0	0	0	0	1	9241	1368	48	2		2	MAGI2	7	78130968	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155639	78130968	81007695	8220	10366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	254					0	0	1	0	0	A	79842159	T	A	79842159	3	1	22	1	0	0	0	0	1	0	0	0	6546	1551	54	5	874	5	GNAI1	7	79842159	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1711191	79842159	79296504	8221	10367											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544525.1_Missense_Mutation_p.A686V|SEMA3C_ENST00000419255.2_Missense_Mutation_p.A668V	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													78	332					0	0	1	0	0	A	80374463	G	A	80374463	3	1	22	1	0	0	0	0	1	0	0	0	14080	971	34	2	256	2	SEMA3C	7	80374463	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	532304	80374463	78764200	8222	10368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356253.5_Silent_p.E80E|CACNA2D1_ENST00000423588.1_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													213	883					0	0	1	0	0	C	81964505	T	C	81964505	2	2	22	1	0	0	0	0	0	0	0	1	2566	1838	64	3		3	CACNA2D1	7	81964505	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1590042	81964505	77174158	8223	10369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82453599G>A	ENST00000423517.2	-	19	14886	c.14549C>T	c.(14548-14550)tCt>tTt	p.S4850F	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.S4850F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4712					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													30	109					0	0	1	0	0	A	82453599	G	A	82453599	3	1	22	1	0	0	0	0	1	0	0	0	11630	942	33	2	924	2	PCLO	7	82453599	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	489094	82453599	76685064	8224	10370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82453619G>A	ENST00000423517.2	-	19	14866	c.14529C>T	c.(14527-14529)agC>agT	p.S4843S	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Silent_p.S4843S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4705					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													36	119					0	0	1	0	0	A	82453619	G	A	82453619	2	1	22	1	0	0	0	0	0	0	0	1	11630	1194	42	2		2	PCLO	7	82453619	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	82453619	76685044	8225	10371											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82544139G>T	ENST00000423517.2	-	7	13500	c.13163C>A	c.(13162-13164)aCc>aAc	p.T4388N	PCLO_ENST00000437081.1_Missense_Mutation_p.T1108N|PCLO_ENST00000333891.8_Missense_Mutation_p.T4388N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4319					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													43	180					4.44401e-20	4.96976e-20	1	1	0	T	82544139	G	T	82544139	3	4	22	1	0	0	0	0	1	0	0	0	11630	1261	44	2	2358	2	PCLO	7	82544139	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90520	82544139	76594524	8226	10372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82545765C>T	ENST00000423517.2	-	7	11874	c.11537G>A	c.(11536-11538)cGa>cAa	p.R3846Q	PCLO_ENST00000437081.1_Missense_Mutation_p.R566Q|PCLO_ENST00000333891.8_Missense_Mutation_p.R3846Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3777	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													179	737					0	0	1	0	0	T	82545765	C	T	82545765	3	4	22	1	0	0	0	0	1	0	0	0	11630	884	31	1	3984	1	PCLO	7	82545765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1626	82545765	76592898	8227	10373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82583261G>A	ENST00000423517.2	-	5	7345	c.7008C>T	c.(7006-7008)tcC>tcT	p.S2336S	PCLO_ENST00000333891.8_Silent_p.S2336S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2267	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													105	549					0	0	1	0	0	A	82583261	G	A	82583261	2	1	22	1	0	0	0	0	0	0	0	1	11630	1103	39	1		1	PCLO	7	82583261	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37496	82583261	76555402	8228	10374											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:83675699C>T	ENST00000265362.3	-	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	203	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													134	571					0	0	1	0	0	T	83675699	C	T	83675699	3	4	22	1	0	0	0	0	1	0	0	0	14078	884	31	1	1755	1	SEMA3A	7	83675699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1092438	83675699	75462964	8229	10375											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	358					0	0	1	0	0	T	84628811	C	T	84628811	3	4	22	1	0	0	0	0	1	0	0	0	14081	884	31	1	58	1	SEMA3D	7	84628811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	953112	84628811	74509852	8230	10376											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	376					0	0	1	0	0	G	84644469	A	G	84644469	3	3	22	1	0	0	0	0	1	0	0	0	14081	362	13	3	740	3	SEMA3D	7	84644469	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15658	84644469	74494194	8231	10377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													163	640					0	0	1	0	0	C	84651710	T	C	84651710	3	2	22	1	0	0	0	0	1	0	0	0	14081	1725	60	3	950	3	SEMA3D	7	84651710	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7241	84651710	74486953	8232	10378											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													201	776					0	0	1	0	0	A	84651735	G	A	84651735	2	1	22	1	0	0	0	0	0	0	0	1	14081	1190	42	2		2	SEMA3D	7	84651735	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25	84651735	74486928	8233	10379											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	360					1.07111e-62	1.35032e-62	1	1	0	T	84666282	G	T	84666282	3	4	22	1	0	0	0	0	1	0	0	0	14081	1174	41	2	1251	2	SEMA3D	7	84666282	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14547	84666282	74472381	8234	10380											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536043.1_Missense_Mutation_p.A449V|GRM3_ENST00000546348.1_Missense_Mutation_p.A169V|GRM3_ENST00000394720.2_Intron|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													75	317					0	0	1	0	0	T	86468560	C	T	86468560	3	4	22	1	0	0	0	0	1	0	0	0	6839	739	26	2	1740	2	GRM3	7	86468560	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1802278	86468560	72670103	8235	10381											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536043.1_Missense_Mutation_p.S612F|GRM3_ENST00000546348.1_Missense_Mutation_p.S332F|GRM3_ENST00000394720.2_Intron|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													30	321					0	0	1	0	0	T	86469049	C	T	86469049	3	4	22	1	0	0	0	0	1	0	0	0	6839	913	32	2	2229	2	GRM3	7	86469049	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	489	86469049	72669614	8236	10382											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000297222.6_Missense_Mutation_p.V595A|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.V764A|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.V668A	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													66	303					0	0	1	0	0	G	86537040	A	G	86537040	3	3	22	1	0	0	0	0	1	0	0	0	8266	159	6	3	605	3	KIAA1324L	7	86537040	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67991	86537040	72601623	8237	10383											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000444627.1_Intron|KIAA1324L_ENST00000450689.2_Intron|KIAA1324L_ENST00000416314.1_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													37	200					9.84934e-19	1.0948e-18	1	1	0	A	86570678	C	A	86570678	3	1	22	1	0	0	0	0	1	0	0	0	8266	754	26	2		2	KIAA1324L	7	86570678	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33638	86570678	72567985	8238	10384											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413276.2_Missense_Mutation_p.Q35H|DMTF1_ENST00000432937.2_Intron|DMTF1_ENST00000331242.7_Missense_Mutation_p.Q35H|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000411766.2_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													36	112					1.04594e-18	1.16214e-18	1	1	0	T	86794362	G	T	86794362	3	4	22	1	0	0	0	0	1	0	0	0	4620	933	33	2	107	2	DMTF1	7	86794362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	223684	86794362	72344301	8239	10385											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413276.2_Intron|DMTF1_ENST00000432937.2_Missense_Mutation_p.A371T|DMTF1_ENST00000394703.5_Missense_Mutation_p.A459T|DMTF1_ENST00000331242.7_Missense_Mutation_p.A459T			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													163	591					0	0	1	0	0	A	86817581	G	A	86817581	3	1	22	1	0	0	0	0	1	0	0	0	4620	1203	42	2	1417	2	DMTF1	7	86817581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23219	86817581	72321082	8240	10386											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413276.2_Missense_Mutation_p.V521I|DMTF1_ENST00000432937.2_Missense_Mutation_p.V503I|DMTF1_ENST00000394703.5_Missense_Mutation_p.V591I|DMTF1_ENST00000331242.7_Missense_Mutation_p.V591I			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													93	445					0	0	1	0	0	A	86823161	G	A	86823161	3	1	22	1	0	0	0	0	1	0	0	0	4620	1029	36	2	1825	2	DMTF1	7	86823161	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5580	86823161	72315502	8241	10387											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442291.1_Missense_Mutation_p.G234V|CROT_ENST00000419147.2_Missense_Mutation_p.G262V	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													42	381					3.76604e-16	4.1305e-16	1	1	0	T	87004992	G	T	87004992	3	4	22	1	0	0	0	0	1	0	0	0	3917	1174	41	2	811	2	CROT	7	87004992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181831	87004992	72133671	8242	10388											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442291.1_Nonsense_Mutation_p.W353*|CROT_ENST00000419147.2_Nonsense_Mutation_p.W381*	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													55	223					0	0	1	0	0	A	87011306	G	A	87011306	4	1	22	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	8243	10389											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545634.1_Silent_p.T685T|ABCB4_ENST00000453593.1_Silent_p.T685T|ABCB4_ENST00000358400.3_Silent_p.T685T|ABCB4_ENST00000359206.3_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													76	260					0	0	1	0	0	A	87056075	G	A	87056075	2	1	22	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	8244	10390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	246					3.16986e-14	3.43948e-14	1	1	0	A	87174266	C	A	87174266	3	1	22	1	0	0	0	0	1	0	0	0	40	565	20	2	1957	2	ABCB1	7	87174266	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118191	87174266	71964397	8245	10391											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	404					0	0	1	0	0	C	87195518	A	C	87195518	3	2	22	1	0	0	0	0	1	0	0	0	40	126	5	3	3360	3	ABCB1	7	87195518	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21252	87195518	71943145	8246	10392											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398201.4_Silent_p.R552R|ADAM22_ENST00000265727.7_Silent_p.R552R|ADAM22_ENST00000315984.7_Silent_p.R552R|ADAM22_ENST00000398209.3_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													62	282					0	0	1	0	0	G	87780610	A	G	87780610	2	3	22	1	0	0	0	0	0	0	0	1	243	272	10	3		3	ADAM22	7	87780610	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	585092	87780610	71358053	8247	10393											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000419179.1_Silent_p.S109S|SRI_ENST00000394641.3_Silent_p.S134S|SRI_ENST00000431660.1_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													70	242					0	0	1	0	0	A	87838718	G	A	87838718	2	1	22	1	0	0	0	0	0	0	0	1	15205	1310	46	2		2	SRI	7	87838718	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58108	87838718	71299945	8248	10394											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Nonsense_Mutation_p.Y205*|AC003991.3_ENST00000600908.1_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													63	300					0	0	1	0	0	C	87912325	A	C	87912325	4	2	22	1	0	0	0	0	0	1	0	0	15336	108	4	3	776	3	STEAP4	7	87912325	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	73607	87912325	71226338	8249	10395											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			69	288					0	0	1	0	0	G	88963589	A	G	88963589	2	3	22	1	0	0	0	0	0	0	0	1	18220	204	8	3		3	ZNF804B	7	88963589	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1051264	88963589	70175074	8250	10396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394632.1_Intron|STEAP2_ENST00000394621.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394626.1_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394622.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394629.2_Nonsense_Mutation_p.R417*	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													28	138					0	0	1	0	0	T	89861714	C	T	89861714	4	4	22	1	0	0	0	0	0	1	0	0	15334	528	19	1	1263	1	STEAP2	7	89861714	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	898125	89861714	69276949	8251	10397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394632.1_Intron|STEAP2_ENST00000394621.2_Silent_p.E422E|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394626.1_Silent_p.E422E|STEAP2_ENST00000394622.2_Silent_p.E422E|STEAP2_ENST00000394629.2_Silent_p.E422E	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													10	171					0	0	1	0	0	A	89861731	G	A	89861731	2	1	22	1	0	0	0	0	0	0	0	1	15334	1020	36	2		2	STEAP2	7	89861731	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	89861731	69276932	8252	10398											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	231					0	0	1	0	0	C	89915597	A	C	89915597	3	2	22	1	0	0	0	0	1	0	0	0	2425	101	4	3	1594	3	C7orf63	7	89915597	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	53866	89915597	69223066	8253	10399											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	10	294					0	0	1	0	0	A	89982181	G	A	89982181	3	1	22	1	0	0	0	0	1	0	0	0	6920	1349	47	2	91	2	GTPBP10	7	89982181	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66584	89982181	69156482	8254	10400											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000265741.3_Missense_Mutation_p.N372D|CDK14_ENST00000436577.2_Missense_Mutation_p.N261D			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													178	741					0	0	1	0	0	G	90741870	A	G	90741870	3	3	22	1	0	0	0	0	1	0	0	0	3152	246	9	3	1160	3	CDK14	7	90741870	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	759689	90741870	68396793	8255	10401											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	532					0	0	1	0	0	A	90895309	G	A	90895309	3	1	22	1	0	0	0	0	1	0	0	0	6163	1116	39	1	1116	1	FZD1	7	90895309	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153439	90895309	68243354	8256	10402											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	383					0	0	1	0	0	C	90895465	T	C	90895465	3	2	22	1	0	0	0	0	1	0	0	0	6163	1667	58	3	1272	3	FZD1	7	90895465	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	156	90895465	68243198	8257	10403											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													196	792					0	0	1	0	0	A	90895700	G	A	90895700	3	1	22	1	0	0	0	0	1	0	0	0	6163	1203	42	2	1507	2	FZD1	7	90895700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	235	90895700	68242963	8258	10404											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	240					0	0	1	0	0	T	90895964	C	T	90895964	3	4	22	1	0	0	0	0	1	0	0	0	6163	739	26	2	1771	2	FZD1	7	90895964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	264	90895964	68242699	8259	10405											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	296					2.81305e-35	3.35631e-35	1	1	0	A	90896026	C	A	90896026	3	1	22	1	0	0	0	0	1	0	0	0	6163	796	28	2	1833	2	FZD1	7	90896026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62	90896026	68242637	8260	10406											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394564.1_Missense_Mutation_p.T155P|AKAP9_ENST00000358100.2_Missense_Mutation_p.T167P|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								7	251					0	0	1	0	0	C	91622256	A	C	91622256	3	2	22	1	0	0	0	0	1	0	0	0	456	275	10	3	481	3	AKAP9	7	91622256	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	726230	91622256	67516407	8261	10407											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								31	133					0	0	1	0	0	A	91631371	T	A	91631371	3	1	22	1	0	0	0	0	1	0	0	0	456	1667	58	5	2170	5	AKAP9	7	91631371	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9115	91631371	67507292	8262	10408											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								87	355					0	0	1	0	0	C	91631643	T	C	91631643	2	2	22	1	0	0	0	0	0	0	0	1	456	1829	64	3		3	AKAP9	7	91631643	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	272	91631643	67507020	8263	10409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								52	232					0	0	1	0	0	T	91632019	A	T	91632019	3	4	22	1	0	0	0	0	1	0	0	0	456	101	4	5	2818	5	AKAP9	7	91632019	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	376	91632019	67506644	8264	10410											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								29	108					0	0	1	0	0	C	91643633	T	C	91643633	2	2	22	1	0	0	0	0	0	0	0	1	456	1500	52	3		3	AKAP9	7	91643633	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11614	91643633	67495030	8265	10411											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								57	238					0	0	1	0	0	G	91660882	A	G	91660882	2	3	22	1	0	0	0	0	0	0	0	1	456	40	2	3		3	AKAP9	7	91660882	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17249	91660882	67477781	8266	10412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91668085C>A	ENST00000359028.2	+	18	4952	c.4728_splice	c.e18+1	p.S1576_splice	AKAP9_ENST00000358100.2_Splice_Site_p.S1576_splice|AKAP9_ENST00000356239.3_Splice_Site_p.S1564_splice			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								15	254					7.93312e-07	8.20014e-07	1	1	0	A	91668085	C	A	91668085	5	1	22	1	0	0	0	0	0	0	1	0	456	927	32	2	4757	2	AKAP9	7	91668085	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7203	91668085	67470578	8267	10413											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								11	434					0	0	1	0	0	T	91690610	C	T	91690610	3	4	22	1	0	0	0	0	1	0	0	0	456	768	27	1	5728	1	AKAP9	7	91690610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22525	91690610	67448053	8268	10414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								28	750					0	0	1	0	0	A	91699387	G	A	91699387	3	1	22	1	0	0	0	0	1	0	0	0	456	1319	46	2	6480	2	AKAP9	7	91699387	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8777	91699387	67439276	8269	10415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								45	144					0	0	1	0	0	T	91709392	C	T	91709392	2	4	22	1	0	0	0	0	0	0	0	1	456	796	28	2		2	AKAP9	7	91709392	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10005	91709392	67429271	8270	10416											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								128	604					0	0	1	0	0	T	91714146	C	T	91714146	2	4	22	1	0	0	0	0	0	0	0	1	456	564	20	2		2	AKAP9	7	91714146	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4754	91714146	67424517	8271	10417											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								48	405					0	0	1	0	0	G	91735055	A	G	91735055	2	3	22	1	0	0	0	0	0	0	0	1	456	301	11	3		3	AKAP9	7	91735055	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20909	91735055	67403608	8272	10418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394503.2_Intron|KRIT1_ENST00000412043.2_Silent_p.S295S|KRIT1_ENST00000340022.2_Silent_p.S295S|KRIT1_ENST00000394505.2_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													69	274					0	0	1	0	0	A	91863867	G	A	91863867	2	1	22	1	0	0	0	0	0	0	0	1	8488	1078	38	1		1	KRIT1	7	91863867	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128812	91863867	67274796	8273	10419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394503.2_Missense_Mutation_p.T65A|KRIT1_ENST00000412043.2_Missense_Mutation_p.T65A|KRIT1_ENST00000340022.2_Missense_Mutation_p.T65A|KRIT1_ENST00000394505.2_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													83	290					0	0	1	0	0	C	91870376	T	C	91870376	3	2	22	1	0	0	0	0	1	0	0	0	8488	1725	60	3	2077	3	KRIT1	7	91870376	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6509	91870376	67268287	8274	10420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	104					0	0	1	0	0	T	92027712	C	T	92027712	3	4	22	1	0	0	0	0	1	0	0	0	626	875	31	1	2793	1	ANKIB1	7	92027712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157336	92027712	67110951	8275	10421											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	385					9.6635e-32	1.13884e-31	1	1	0	A	92027950	C	A	92027950	3	1	22	1	0	0	0	0	1	0	0	0	626	739	26	2	3031	2	ANKIB1	7	92027950	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	238	92027950	67110713	8276	10422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|AC007566.10_ENST00000427458.1_RNA|PEX1_ENST00000428214.1_Silent_p.L1120L	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													69	231					0	0	1	0	0	G	92119135	A	G	92119135	2	3	22	1	0	0	0	0	0	0	0	1	11783	40	2	3		3	PEX1	7	92119135	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	91185	92119135	67019528	8277	10423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													124	418					0	0	1	0	0	A	92122335	G	A	92122335	2	1	22	1	0	0	0	0	0	0	0	1	11783	933	33	2		2	PEX1	7	92122335	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3200	92122335	67016328	8278	10424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541751.1_Missense_Mutation_p.K31E|PEX1_ENST00000428214.1_Missense_Mutation_p.K614E	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													119	399					0	0	1	0	0	C	92135622	T	C	92135622	3	2	22	1	0	0	0	0	1	0	0	0	11783	1763	61	3	2067	3	PEX1	7	92135622	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13287	92135622	67003041	8279	10425											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541751.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.D545N	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													43	175					0	0	1	0	0	T	92138680	C	T	92138680	3	4	22	1	0	0	0	0	1	0	0	0	11783	826	29	2	2282	2	PEX1	7	92138680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3058	92138680	66999983	8280	10426											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	307					0	0	1	0	0	A	92730814	G	A	92730814	4	1	22	1	0	0	0	0	0	1	0	0	13878	1066	37	1	176	1	SAMD9	7	92730814	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	592134	92730814	66407849	8281	10427											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	372					0	0	1	0	0	C	92732478	T	C	92732478	3	2	22	1	0	0	0	0	1	0	0	0	13878	1638	57	3	1840	3	SAMD9	7	92732478	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1664	92732478	66406185	8282	10428											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	442					0	0	1	0	0	A	92732941	G	A	92732941	4	1	22	1	0	0	0	0	0	1	0	0	13878	1066	37	1	2303	1	SAMD9	7	92732941	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	463	92732941	66405722	8283	10429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	454					0	0	1	0	0	C	92734599	T	C	92734599	3	2	22	1	0	0	0	0	1	0	0	0	13878	1406	49	3	3961	3	SAMD9	7	92734599	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1658	92734599	66404064	8284	10430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													167	511					0	0	1	0	0	A	92734864	G	A	92734864	3	1	22	1	0	0	0	0	1	0	0	0	13878	1203	42	2	4226	2	SAMD9	7	92734864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	265	92734864	66403799	8285	10431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	538					0	0	1	0	0	A	92734899	T	A	92734899	3	1	22	1	0	0	0	0	1	0	0	0	13878	1493	52	5	4261	5	SAMD9	7	92734899	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35	92734899	66403764	8286	10432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													146	574					0	0	1	0	0	T	92735170	C	T	92735170	3	4	22	1	0	0	0	0	1	0	0	0	13878	913	32	2	4532	2	SAMD9	7	92735170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271	92735170	66403493	8287	10433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													211	792					0	0	1	0	0	A	92760879	G	A	92760879	3	1	22	1	0	0	0	0	1	0	0	0	13879	1174	41	2	352	2	SAMD9L	7	92760879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25709	92760879	66377784	8288	10434											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													168	619					7.35938e-57	9.2123e-57	1	1	0	T	92761865	G	T	92761865	3	4	22	1	0	0	0	0	1	0	0	0	13879	1020	36	2	1338	2	SAMD9L	7	92761865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	986	92761865	66376798	8289	10435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	365					8.64784e-51	1.07212e-50	1	1	0	A	92762815	C	A	92762815	4	1	22	1	0	0	0	0	0	1	0	0	13879	922	32	2	2288	2	SAMD9L	7	92762815	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	950	92762815	66375848	8290	10436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	545					3.44186e-60	4.32629e-60	1	1	0	T	92762927	G	T	92762927	2	4	22	1	0	0	0	0	0	0	0	1	13879	987	35	2		2	SAMD9L	7	92762927	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112	92762927	66375736	8291	10437											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	315					2.73867e-56	3.42633e-56	1	1	0	T	92763168	G	T	92763168	3	4	22	1	0	0	0	0	1	0	0	0	13879	942	33	2	2641	2	SAMD9L	7	92763168	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241	92763168	66375495	8292	10438											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453812.2_Nonsense_Mutation_p.E323*|HEPACAM2_ENST00000440868.1_Nonsense_Mutation_p.E288*	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													92	359					5.56898e-48	6.86499e-48	1	1	0	A	92838007	C	A	92838007	4	1	22	1	0	0	0	0	0	1	0	0	7094	922	32	2	518	2	HEPACAM2	7	92838007	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74839	92838007	66300656	8293	10439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541136.1_Silent_p.S479S|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000535481.1_Silent_p.S388S|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													136	512					0	0	1	0	0	C	92963455	T	C	92963455	2	2	22	1	0	0	0	0	0	0	0	1	2785	1635	57	3		3	CCDC132	7	92963455	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	125448	92963455	66175208	8294	10440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541136.1_3'UTR|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.E581D|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													100	415					0	0	1	0	0	C	92983071	A	C	92983071	3	2	22	1	0	0	0	0	1	0	0	0	2785	69	3	3	2727	3	CCDC132	7	92983071	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19616	92983071	66155592	8295	10441											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360249.4_Missense_Mutation_p.P86S|CALCR_ENST00000426151.1_Missense_Mutation_p.P86S|CALCR_ENST00000394441.1_Missense_Mutation_p.P86S|CALCR_ENST00000421592.1_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													43	169					0	0	1	0	0	A	93106930	G	A	93106930	3	1	22	1	0	0	0	0	1	0	0	0	2597	1261	44	2	1260	2	CALCR	7	93106930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123859	93106930	66031733	8296	10442											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			113	461					0	0	1	0	0	C	94038695	T	C	94038695	3	2	22	1	0	0	0	0	1	0	0	0	3701	1696	59	3	920	3	COL1A2	7	94038695	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	931765	94038695	65099968	8297	10443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94052429C>T	ENST00000297268.6	+	40	3035	c.2565_splice	c.e40+1	p.A855_splice		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)			94	390					0	0	1	0	0	T	94052429	C	T	94052429	5	4	22	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	8298	10444											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			53	298					0	0	1	0	0	T	94054952	C	T	94054952	3	4	22	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	8299	10445											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	148					0	0	1	0	0	T	94180661	C	T	94180661	2	4	22	1	0	0	0	0	0	0	0	1	2682	535	19	1		1	CASD1	7	94180661	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125709	94180661	64958002	8300	10446											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	260					0	0	1	0	0	C	94184895	T	C	94184895	3	2	22	1	0	0	0	0	1	0	0	0	2682	1667	58	3	2289	3	CASD1	7	94184895	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4234	94184895	64953768	8301	10447											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428696.2_Missense_Mutation_p.T407M|SGCE_ENST00000437425.2_Missense_Mutation_p.T375M|SGCE_ENST00000445866.2_Missense_Mutation_p.T416M|SGCE_ENST00000265735.7_Missense_Mutation_p.T416M|SGCE_ENST00000447873.1_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													125	505					0	0	1	0	0	A	94228093	G	A	94228093	3	1	22	1	0	0	0	0	1	0	0	0	14256	1145	40	1	230	1	SGCE	7	94228093	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43198	94228093	64910570	8302	10448											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428696.2_Nonsense_Mutation_p.W100*|SGCE_ENST00000437425.2_Nonsense_Mutation_p.W59*|SGCE_ENST00000445866.2_Nonsense_Mutation_p.W100*|SGCE_ENST00000265735.7_Nonsense_Mutation_p.W100*|SGCE_ENST00000447873.1_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													37	133					0	0	1	0	0	T	94257604	C	T	94257604	4	4	22	1	0	0	0	0	0	1	0	0	14256	740	26	2	1201	2	SGCE	7	94257604	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29511	94257604	64881059	8303	10449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													143	668					0	0	1	0	0	T	94293496	C	T	94293496	3	4	22	1	0	0	0	0	1	0	0	0	11766	681	24	2	862	2	PEG10	7	94293496	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35892	94293496	64845167	8304	10450											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340694.4_Missense_Mutation_p.T741K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T741K|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.T741K|PPP1R9A_ENST00000424654.1_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)			37	179					4.90274e-10	5.1822e-10	1	1	0	A	94879459	C	A	94879459	3	1	22	1	0	0	0	0	1	0	0	0	12427	478	17	2	2322	2	PPP1R9A	7	94879459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	585963	94879459	64259204	8305	10451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340694.4_Intron|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.A1022D|PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000424654.1_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)			8	67					1.06961e-07	1.11297e-07	1	1	0	A	94903217	C	A	94903217	3	1	22	1	0	0	0	0	1	0	0	0	12427	739	26	2	3185	2	PPP1R9A	7	94903217	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23758	94903217	64235446	8306	10452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	357					0	0	1	0	0	G	94940825	T	G	94940825	3	3	22	1	0	0	0	0	1	0	0	0	12296	1490	52	3	652	3	PON1	7	94940825	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37608	94940825	64197838	8307	10453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000222572.3_Missense_Mutation_p.R305H|PON2_ENST00000483292.1_5'UTR|PON2_ENST00000433091.2_Missense_Mutation_p.R293H	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													94	448					0	0	1	0	0	T	95034793	C	T	95034793	3	4	22	1	0	0	0	0	1	0	0	0	12297	768	27	1	154	1	PON2	7	95034793	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93968	95034793	64103870	8308	10454											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	7	279					0	0	1	0	0	T	95157228	C	T	95157228	2	4	22	1	0	0	0	0	0	0	0	1	1024	535	19	1		1	ASB4	7	95157228	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122435	95157228	63981435	8309	10455											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	60	231					0	0	1	0	0	T	95157465	C	T	95157465	2	4	22	1	0	0	0	0	0	0	0	1	1024	639	23	1		1	ASB4	7	95157465	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	237	95157465	63981198	8310	10456											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95218952C>A	ENST00000005178.5	-	7	968	c.771_splice	c.e7+1	p.K257_splice		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													10	479					1.11149e-13	1.20163e-13	1	1	0	A	95218952	C	A	95218952	5	1	22	1	0	0	0	0	0	0	1	0	11725	695	24	2	484	2	PDK4	7	95218952	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61487	95218952	63919711	8311	10457											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457059.1_Silent_p.S324S|DYNC1I1_ENST00000359388.4_Silent_p.S304S|DYNC1I1_ENST00000437599.1_Silent_p.S321S|DYNC1I1_ENST00000537881.1_Silent_p.S304S|DYNC1I1_ENST00000447467.2_Silent_p.S324S	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													181	761					9.03655e-77	1.15342e-76	1	1	0	A	95657489	C	A	95657489	2	1	22	1	0	0	0	0	0	0	0	1	4868	668	24	2		2	DYNC1I1	7	95657489	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	438537	95657489	63481174	8312	10458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417009.1_Silent_p.D45D|SHFM1_ENST00000413065.1_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					114	420					0	0	1	0	0	G	96324145	A	G	96324145	2	3	22	1	0	0	0	0	0	0	0	1	14333	214	8	3		3	SHFM1	7	96324145	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	666656	96324145	62814518	8313	10459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6_ENST00000007660.5_Silent_p.S207S|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000555308.1_Silent_p.S107S|DLX6-AS1_ENST00000437331.2_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													89	283					0	0	1	0	0	T	96639182	C	T	96639182	2	4	22	1	0	0	0	0	0	0	0	1	4603	767	27	1		1	DLX6	7	96639182	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	315037	96639182	62499481	8314	10460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6_ENST00000007660.5_Silent_p.S217S|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000555308.1_Silent_p.S117S|DLX6-AS1_ENST00000437331.2_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													63	233					0	0	1	0	0	A	96639212	G	A	96639212	2	1	22	1	0	0	0	0	0	0	0	1	4603	1074	38	1		1	DLX6	7	96639212	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30	96639212	62499451	8315	10461											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394309.3_Missense_Mutation_p.R340H|ASNS_ENST00000394308.3_Missense_Mutation_p.R340H|ASNS_ENST00000422745.1_Missense_Mutation_p.R319H|ASNS_ENST00000444334.1_Missense_Mutation_p.R319H|ASNS_ENST00000437628.1_Missense_Mutation_p.R257H	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													71	273					0	0	1	0	0	T	97486013	C	T	97486013	3	4	22	1	0	0	0	0	1	0	0	0	1047	536	19	1	690	1	ASNS	7	97486013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	846801	97486013	61652650	8316	10462											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394309.3_Missense_Mutation_p.G58E|ASNS_ENST00000394308.3_Missense_Mutation_p.G58E|ASNS_ENST00000422745.1_Missense_Mutation_p.G37E|ASNS_ENST00000444334.1_Missense_Mutation_p.G37E|ASNS_ENST00000437628.1_Intron	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													93	293					0	0	1	0	0	T	97498296	C	T	97498296	3	4	22	1	0	0	0	0	1	0	0	0	1047	855	30	2	1556	2	ASNS	7	97498296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12283	97498296	61640367	8317	10463											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394309.3_Missense_Mutation_p.R49Q|ASNS_ENST00000394308.3_Missense_Mutation_p.R49Q|ASNS_ENST00000422745.1_Missense_Mutation_p.R28Q|ASNS_ENST00000444334.1_Missense_Mutation_p.R28Q|ASNS_ENST00000437628.1_Intron	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													72	262					0	0	1	0	0	T	97498323	C	T	97498323	3	4	22	1	0	0	0	0	1	0	0	0	1047	652	23	1	1583	1	ASNS	7	97498323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27	97498323	61640340	8318	10464											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	211					0	0	1	0	0	T	97821008	C	T	97821008	3	4	22	1	0	0	0	0	1	0	0	0	8900	759	27	1	1273	1	LMTK2	7	97821008	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	322685	97821008	61317655	8319	10465											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													179	645					6.55925e-89	8.4157e-89	1	1	0	T	97821797	G	T	97821797	3	4	22	1	0	0	0	0	1	0	0	0	8900	1174	41	2	2062	2	LMTK2	7	97821797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	789	97821797	61316866	8320	10466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													160	603					2.44665e-68	3.10229e-68	1	1	0	A	97822802	C	A	97822802	3	1	22	1	0	0	0	0	1	0	0	0	8900	796	28	2	3067	2	LMTK2	7	97822802	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1005	97822802	61315861	8321	10467											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	187					0	0	1	0	0	T	97823014	C	T	97823014	2	4	22	1	0	0	0	0	0	0	0	1	8900	755	27	1		1	LMTK2	7	97823014	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212	97823014	61315649	8322	10468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	175					0	0	1	0	0	T	97823515	C	T	97823515	2	4	22	1	0	0	0	0	0	0	0	1	8900	610	22	2		2	LMTK2	7	97823515	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	501	97823515	61315148	8323	10469											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	457					0	0	1	0	0	T	97823692	C	T	97823692	2	4	22	1	0	0	0	0	0	0	0	1	8900	738	26	2		2	LMTK2	7	97823692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177	97823692	61314971	8324	10470											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	206					0	0	1	0	0	T	97832996	C	T	97832996	2	4	22	1	0	0	0	0	0	0	0	1	8900	639	23	1		1	LMTK2	7	97832996	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9304	97832996	61305667	8325	10471											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97842100C>A	ENST00000314018.2	+	1	535	c.479C>A	c.(478-480)gCt>gAt	p.A160D		NM_177455.3	NP_803238.1	Q7RTS1	BHA15_HUMAN	basic helix-loop-helix family, member a15	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										CAGCAGGTGGCTGGGGGTGCG	0.697													4	16					1.23904e-05	1.26975e-05	1	1	0	A	97842100	C	A	97842100	3	1	22	1	0	0	0	0	1	0	0	0	1418	797	28	2	481	2	BHLHA15	7	97842100	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9104	97842100	61296563	8326	10472											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379795.3_Silent_p.G800G|TECPR1_ENST00000542604.1_Silent_p.G729G			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													6	46					0	0	1	0	0	A	97858364	G	A	97858364	2	1	22	1	0	0	0	0	0	0	0	1	15802	1074	38	1		1	TECPR1	7	97858364	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16264	97858364	61280299	8327	10473											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379795.3_Missense_Mutation_p.K185R|TECPR1_ENST00000542604.1_Missense_Mutation_p.K106R			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													9	230					0	0	1	0	0	C	97872882	T	C	97872882	3	2	22	1	0	0	0	0	1	0	0	0	15802	1609	56	3	3027	3	TECPR1	7	97872882	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14518	97872882	61265781	8328	10474											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	438					0	0	1	0	0	C	98497112	T	C	98497112	3	2	22	1	0	0	0	0	1	0	0	0	16662	1764	61	3	731	3	TRRAP	7	98497112	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	624230	98497112	60641551	8329	10475											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	429					0	0	1	0	0	A	98522833	G	A	98522833	3	1	22	1	0	0	0	0	1	0	0	0	16662	1290	45	2	3004	2	TRRAP	7	98522833	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25721	98522833	60615830	8330	10476											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	352					0	0	1	0	0	T	98527811	C	T	98527811	2	4	22	1	0	0	0	0	0	0	0	1	16662	845	30	2		2	TRRAP	7	98527811	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4978	98527811	60610852	8331	10477											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	179					0	0	1	0	0	T	98535413	C	T	98535413	2	4	22	1	0	0	0	0	0	0	0	1	16662	668	24	2		2	TRRAP	7	98535413	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7602	98535413	60603250	8332	10478											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	155					0	0	1	0	0	G	98535441	A	G	98535441	3	3	22	1	0	0	0	0	1	0	0	0	16662	333	12	3	4516	3	TRRAP	7	98535441	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28	98535441	60603222	8333	10479											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	251					1.44317e-28	1.68001e-28	1	1	0	A	98550854	C	A	98550854	3	1	22	1	0	0	0	0	1	0	0	0	16662	739	26	2	5599	2	TRRAP	7	98550854	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15413	98550854	60587809	8334	10480											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	288					0	0	1	0	0	T	98552800	C	T	98552800	3	4	22	1	0	0	0	0	1	0	0	0	16662	768	27	1	5885	1	TRRAP	7	98552800	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1946	98552800	60585863	8335	10481											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	175					0	0	1	0	0	A	98552885	G	A	98552885	2	1	22	1	0	0	0	0	0	0	0	1	16662	1074	38	1		1	TRRAP	7	98552885	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85	98552885	60585778	8336	10482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	315					0	0	1	0	0	T	98562313	C	T	98562313	2	4	22	1	0	0	0	0	0	0	0	1	16662	903	32	2		2	TRRAP	7	98562313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9428	98562313	60576350	8337	10483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	352					0	0	1	0	0	T	98565232	C	T	98565232	3	4	22	1	0	0	0	0	1	0	0	0	16662	536	19	1	7538	1	TRRAP	7	98565232	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2919	98565232	60573431	8338	10484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	352					0	0	1	0	0	C	98588118	T	C	98588118	3	2	22	1	0	0	0	0	1	0	0	0	16662	1821	63	3	9799	3	TRRAP	7	98588118	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22886	98588118	60550545	8339	10485											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													260	1043					0	0	1	0	0	T	98592299	C	T	98592299	2	4	22	1	0	0	0	0	0	0	0	1	16662	610	22	2		2	TRRAP	7	98592299	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4181	98592299	60546364	8340	10486											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													170	898					0	0	1	0	0	T	98592415	C	T	98592415	3	4	22	1	0	0	0	0	1	0	0	0	16662	768	27	1	10378	1	TRRAP	7	98592415	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116	98592415	60546248	8341	10487											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	349					0	0	1	0	0	A	98946483	G	A	98946483	3	1	22	1	0	0	0	0	1	0	0	0	968	971	34	2	415	2	ARPC1A	7	98946483	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	354068	98946483	60192180	8342	10488											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000292476.5_Missense_Mutation_p.E118K|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000451876.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000441580.1_Missense_Mutation_p.E65K|CPSF4_ENST00000471455.1_3'UTR|ATP5J2_ENST00000466753.1_Intron	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													31	154					0	0	1	0	0	A	99047943	G	A	99047943	3	1	22	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	8343	10489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000292476.5_Silent_p.P219P|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000451876.1_Silent_p.P161P|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000441580.1_Silent_p.P141P|ATP5J2_ENST00000466753.1_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													240	858					0	0	1	0	0	A	99051675	G	A	99051675	2	1	22	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	8344	10490											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_Silent_p.P46P|ZNF789_ENST00000494186.1_Intron|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													70	320					0	0	1	0	0	A	99097579	G	A	99097579	2	1	22	1	0	0	0	0	0	0	0	1	17937	1103	39	1		1	ZNF394	7	99097579	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45904	99097579	60041084	8345	10491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451158.1_Silent_p.L95L|ZKSCAN5_ENST00000326775.5_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													99	440					0	0	1	0	0	T	99103950	C	T	99103950	2	4	22	1	0	0	0	0	0	0	0	1	17748	796	28	2		2	ZKSCAN5	7	99103950	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6371	99103950	60034713	8346	10492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451158.1_Silent_p.N264N|ZKSCAN5_ENST00000326775.5_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													125	478					0	0	1	0	0	C	99123455	T	C	99123455	2	2	22	1	0	0	0	0	0	0	0	1	17748	1403	49	3		3	ZKSCAN5	7	99123455	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19505	99123455	60015208	8347	10493											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	206					0	0	1	0	0	G	99146025	A	G	99146025	2	3	22	1	0	0	0	0	0	0	0	1	5568	291	11	3		3	FAM200A	7	99146025	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22570	99146025	59992638	8348	10494											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000252713.4_Missense_Mutation_p.S119N|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000493277.1_Missense_Mutation_p.S154N|ZNF655_ENST00000394163.2_Missense_Mutation_p.S119N	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													67	356					0	0	1	0	0	A	99170087	G	A	99170087	3	1	22	1	0	0	0	0	1	0	0	0	18125	971	34	2	893	2	ZNF655	7	99170087	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24062	99170087	59968576	8349	10495											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	301					0	0	1	0	0	C	99306847	T	C	99306847	3	2	22	1	0	0	0	0	1	0	0	0	4204	1406	49	3	459	3	CYP3A7	7	99306847	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	136760	99306847	59831816	8350	10496											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													162	561					3.76969e-91	4.84057e-91	1	1	0	A	99313450	C	A	99313450	3	1	22	1	0	0	0	0	1	0	0	0	4204	913	32	2	938	2	CYP3A7	7	99313450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6603	99313450	59825213	8351	10497											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000342499.4_Silent_p.I136I|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000222382.5_Silent_p.I276I|CYP3A43_ENST00000312017.5_Silent_p.I276I|CYP3A43_ENST00000417625.1_Silent_p.I166I|CYP3A43_ENST00000415413.1_Silent_p.I65I|CYP3A43_ENST00000444905.1_Silent_p.I23I	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													99	419					0	0	1	0	0	T	99454485	C	T	99454485	2	4	22	1	0	0	0	0	0	0	0	1	4202	874	31	1		1	CYP3A43	7	99454485	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141035	99454485	59684178	8352	10498											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	295					9.98788e-38	1.20066e-37	1	1	0	T	99474422	G	T	99474422	3	4	22	1	0	0	0	0	1	0	0	0	11031	991	35	2	740	2	OR2AE1	7	99474422	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19937	99474422	59664241	8353	10499											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													183	796					3.08562e-96	3.96622e-96	1	1	0	T	99489912	G	T	99489912	3	4	22	1	0	0	0	0	1	0	0	0	16575	933	33	2	129	2	TRIM4	7	99489912	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15490	99489912	59648751	8354	10500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000411734.1_3'UTR|AZGP1_ENST00000483612.1_5'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													25	154					4.72057e-08	4.92026e-08	1	1	0	A	99564826	C	A	99564826	3	1	22	1	0	0	0	0	1	0	0	0	1237	681	24	2	203	2	AZGP1	7	99564826	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74914	99564826	59573837	8355	10501											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000456748.2_Missense_Mutation_p.E121K|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E121K|ZSCAN21_ENST00000477297.1_3'UTR	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													60	196					0	0	1	0	0	A	99654990	G	A	99654990	3	1	22	1	0	0	0	0	1	0	0	0	18274	1059	37	1	363	1	ZSCAN21	7	99654990	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90164	99654990	59483673	8356	10502											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000299667.4_Missense_Mutation_p.E232K|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000424697.1_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													82	337					0	0	1	0	0	T	99669413	C	T	99669413	3	4	22	1	0	0	0	0	1	0	0	0	17886	835	29	2	779	2	ZNF3	7	99669413	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14423	99669413	59469250	8357	10503											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000299667.4_Silent_p.P194P|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000424697.1_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													122	448					0	0	1	0	0	A	99669525	G	A	99669525	2	1	22	1	0	0	0	0	0	0	0	1	17886	1103	39	1		1	ZNF3	7	99669525	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112	99669525	59469138	8358	10504											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000299667.4_Missense_Mutation_p.P139L|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000424697.1_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													108	507					0	0	1	0	0	A	99669691	G	A	99669691	3	1	22	1	0	0	0	0	1	0	0	0	17886	1116	39	1	1057	1	ZNF3	7	99669691	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166	99669691	59468972	8359	10505											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													193	987					4.64646e-85	5.95425e-85	1	1	0	T	99688878	G	T	99688878	3	4	22	1	0	0	0	0	1	0	0	0	3760	971	34	2	697	2	COPS6	7	99688878	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19187	99688878	59449785	8360	10506											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99691794A>T	ENST00000303887.5	-	13	2494		c.e13+1		MCM7_ENST00000354230.3_Splice_Site|MCM7_ENST00000343023.6_Intron	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													103	533					0	0	1	0	0	T	99691794	A	T	99691794	5	4	22	1	0	0	0	0	0	0	1	0	9442	405	14	5	321	5	MCM7	7	99691794	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2916	99691794	59446869	8361	10507											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453269.2_Missense_Mutation_p.A657S|TAF6_ENST00000437822.2_Missense_Mutation_p.A694S|TAF6_ENST00000472509.1_Missense_Mutation_p.A714S|TAF6_ENST00000452041.1_Missense_Mutation_p.A657S|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000418432.2_Missense_Mutation_p.A581S	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													9	269					2.17888e-05	2.22852e-05	1	1	0	A	99704934	C	A	99704934	3	1	22	1	0	0	0	0	1	0	0	0	15587	797	28	2	68	2	TAF6	7	99704934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13140	99704934	59433729	8362	10508											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457641.1_Missense_Mutation_p.R98H|C7orf43_ENST00000419841.1_Missense_Mutation_p.R135H|C7orf43_ENST00000498638.1_5'UTR	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													40	139					0	0	1	0	0	T	99754149	C	T	99754149	3	4	22	1	0	0	0	0	1	0	0	0	2409	768	27	1	658	1	C7orf43	7	99754149	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49215	99754149	59384514	8363	10509											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457641.1_Silent_p.P37P|C7orf43_ENST00000419841.1_Silent_p.P74P|C7orf43_ENST00000498638.1_5'UTR	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													18	511					0	0	1	0	0	T	99754543	C	T	99754543	2	4	22	1	0	0	0	0	0	0	0	1	2409	755	27	1		1	C7orf43	7	99754543	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	394	99754543	59384120	8364	10510											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413800.1_Missense_Mutation_p.D308N|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.D246N|GAL3ST4_ENST00000411994.1_Silent_p.S206S|GAL3ST4_ENST00000423751.1_Silent_p.S206S	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													131	547					0	0	1	0	0	T	99758090	C	T	99758090	3	4	22	1	0	0	0	0	1	0	0	0	6240	884	31	1	542	1	GAL3ST4	7	99758090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3547	99758090	59380573	8365	10511											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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													127	453					0	0	1	0	0	A	99786553	G	A	99786553	3	1	22	1	0	0	0	0	1	0	0	0	15300	1203	42	2	651	2	STAG3	7	99786553	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28463	99786553	59352110	8366	10512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.E1219K			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													26	490					0	0	1	0	0	A	99811415	G	A	99811415	3	1	22	1	0	0	0	0	1	0	0	0	15300	943	33	2	3781	2	STAG3	7	99811415	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24862	99811415	59327248	8367	10513											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	238					0	0	1	0	0	A	99909548	G	A	99909548	2	1	22	1	0	0	0	0	0	0	0	1	15088	1074	38	1		1	SPDYE3	7	99909548	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98133	99909548	59229115	8368	10514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99957138C>T	ENST00000444874.1	+	16	2324	c.424C>T	c.(424-426)Cct>Tct	p.P142S	PILRB_ENST00000310771.4_Silent_p.L211L|PILRB_ENST00000444073.1_Silent_p.L211L|PILRB_ENST00000448382.1_Missense_Mutation_p.P264S|PILRB_ENST00000452089.1_Silent_p.L211L			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	0	Ig-like V-type.				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													58	242					0	0	1	0	0	T	99957138	C	T	99957138	3	4	22	1	0	0	0	0	1	0	0	0	11974	855	30	2	643	2	PILRB	7	99957138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47590	99957138	59181525	8369	10515											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	423					6.88379e-33	8.14374e-33	1	1	0	A	99971341	C	A	99971341	3	1	22	1	0	0	0	0	1	0	0	0	11973	681	24	2	64	2	PILRA	7	99971341	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14203	99971341	59167322	8370	10516											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000490721.1_Silent_p.Y206Y|ZCWPW1_ENST00000324725.6_Silent_p.Y206Y|ZCWPW1_ENST00000360951.4_Silent_p.Y327Y	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													92	421					0	0	1	0	0	A	100006173	G	A	100006173	2	1	22	1	0	0	0	0	0	0	0	1	17655	1140	40	1		1	ZCWPW1	7	100006173	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34832	100006173	59132490	8371	10517											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000490721.1_Silent_p.A191A|ZCWPW1_ENST00000324725.6_Silent_p.A191A|ZCWPW1_ENST00000360951.4_Silent_p.A312A	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													104	366					1.39607e-43	1.70485e-43	1	1	0	T	100006218	G	T	100006218	2	4	22	1	0	0	0	0	0	0	0	1	17655	987	35	2		2	ZCWPW1	7	100006218	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	100006218	59132445	8372	10518											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000490721.1_Missense_Mutation_p.I48M|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.I48M|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.I169M	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													89	342					0	0	1	0	0	C	100014052	A	C	100014052	3	2	22	1	0	0	0	0	1	0	0	0	17655	10	1	3	1487	3	ZCWPW1	7	100014052	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7834	100014052	59124611	8373	10519											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000324725.6_5'UTR|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.C32Y	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													28	418					0	0	1	0	0	T	100017440	C	T	100017440	3	4	22	1	0	0	0	0	1	0	0	0	17655	478	17	2	1911	2	ZCWPW1	7	100017440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3388	100017440	59121223	8374	10520											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	218					0	0	1	0	0	T	100029193	C	T	100029193	4	4	22	1	0	0	0	0	0	1	0	0	9527	876	31	1	1554	1	MEPCE	7	100029193	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11753	100029193	59109470	8375	10521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	394					0	0	1	0	0	T	100060989	C	T	100060989	4	4	22	1	0	0	0	0	0	1	0	0	2424	856	30	2	244	2	C7orf61	7	100060989	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31796	100060989	59077674	8376	10522											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000474713.1_Intron|AGFG2_ENST00000262935.4_3'UTR	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)	123	493					0	0	1	0	0	A	100161557	G	A	100161557	2	1	22	1	0	0	0	0	0	0	0	1	378	1074	38	1		1	AGFG2	7	100161557	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100568	100161557	58977106	8377	10523											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	300					0	0	1	0	0	A	100174761	G	A	100174761	3	1	22	1	0	0	0	0	1	0	0	0	8980	971	34	2	767	2	LRCH4	7	100174761	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13204	100174761	58963902	8378	10524											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360609.2_Missense_Mutation_p.R84H|FBXO24_ENST00000465843.1_Missense_Mutation_p.R84H|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.R122H|FBXO24_ENST00000468962.1_Missense_Mutation_p.R72H|FBXO24_ENST00000498195.1_3'UTR	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													44	202					0	0	1	0	0	A	100187909	G	A	100187909	3	1	22	1	0	0	0	0	1	0	0	0	5768	1087	38	1	418	1	FBXO24	7	100187909	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13148	100187909	58950754	8379	10525											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FBXO24_ENST00000360609.2_Missense_Mutation_p.R168H|FBXO24_ENST00000465843.1_Missense_Mutation_p.R168H|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.R220H|FBXO24_ENST00000468962.1_Missense_Mutation_p.R170H	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													79	364					0	0	1	0	0	A	100189512	G	A	100189512	3	1	22	1	0	0	0	0	1	0	0	0	5768	1145	40	1	716	1	FBXO24	7	100189512	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1603	100189512	58949151	8380	10526											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FBXO24_ENST00000360609.2_Missense_Mutation_p.D176G|FBXO24_ENST00000465843.1_Missense_Mutation_p.D176G|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.D228G|FBXO24_ENST00000468962.1_Missense_Mutation_p.D178G	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													32	137					0	0	1	0	0	G	100190416	A	G	100190416	3	3	22	1	0	0	0	0	1	0	0	0	5768	275	10	3	744	3	FBXO24	7	100190416	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	904	100190416	58948247	8381	10527											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Nonstop_Mutation_p.*619Y|FBXO24_ENST00000468962.1_Nonstop_Mutation_p.*569Y	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													20	405					0	0	1	0	0	C	100198522	A	C	100198522	4	2	22	1	0	0	0	0	0	0	0	0	5768	108	4	3	1938	3	FBXO24	7	100198522	Nonstop_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8106	100198522	58940141	8382	10528											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100201161G>A	ENST00000223061.5	+	2	484	c.204_splice	c.e2+1	p.T68_splice	PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA	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													21	176					0	0	1	0	0	A	100201161	G	A	100201161	5	1	22	1	0	0	0	0	0	0	1	0	11641	1130	39	1	210	1	PCOLCE	7	100201161	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2639	100201161	58937502	8383	10529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424091.2_Silent_p.R22R|MOSPD3_ENST00000223054.4_Silent_p.R22R|MOSPD3_ENST00000379527.2_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													68	240					0	0	1	0	0	A	100210480	G	A	100210480	2	1	22	1	0	0	0	0	0	0	0	1	9766	1219	43	2		2	MOSPD3	7	100210480	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9319	100210480	58928183	8384	10530											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424091.2_Missense_Mutation_p.Y77C|MOSPD3_ENST00000223054.4_Missense_Mutation_p.Y77C|MOSPD3_ENST00000379527.2_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													199	775					0	0	1	0	0	G	100210841	A	G	100210841	3	3	22	1	0	0	0	0	1	0	0	0	9766	391	14	3	236	3	MOSPD3	7	100210841	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	361	100210841	58927822	8385	10531											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	279					0	0	1	0	0	T	100284433	C	T	100284433	3	4	22	1	0	0	0	0	1	0	0	0	6419	739	26	2	2646	2	GIGYF1	7	100284433	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73592	100284433	58854230	8386	10532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													156	752					0	0	1	0	0	A	100284964	G	A	100284964	4	1	22	1	0	0	0	0	0	1	0	0	6419	1153	40	1	2748	1	GIGYF1	7	100284964	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	531	100284964	58853699	8387	10533											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	662					1.37522e-17	1.51956e-17	1	1	0	T	100320732	G	T	100320732	3	4	22	1	0	0	0	0	1	0	0	0	5216	991	35	2	576	2	EPO	7	100320732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35768	100320732	58817931	8388	10534											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100352880C>T	ENST00000542585.1	+	0	3304				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_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)			GCTACGAATCCTGTGCTTGTC	0.567													186	833					0	0	1	0	0	T	100352880	C	T	100352880	1	4	22	0	1	0	0	0	0	0	0	0	17573	668	24	2		2	ZAN	7	100352880	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32148	100352880	58785783	8389	10535											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100364868C>T	ENST00000542585.1	+	0	4996				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_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)			TGCTCAGAGGCTGTAAGGTCA	0.607													35	169					0	0	1	0	0	T	100364868	C	T	100364868	1	4	22	0	1	0	0	0	0	0	0	0	17573	784	28	2		2	ZAN	7	100364868	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11988	100364868	58773795	8390	10536											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100365518G>A	ENST00000542585.1	+	0	5073				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_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)			ATAAGGCTCAGCAGCAACCTC	0.602													45	200					0	0	1	0	0	A	100365518	G	A	100365518	1	1	22	0	1	0	0	0	0	0	0	0	17573	971	34	2		2	ZAN	7	100365518	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	650	100365518	58773145	8391	10537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100369522C>T	ENST00000542585.1	+	0	5452				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_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)			TTGCCAGTTGCGTGCATGGTC	0.657													45	195					0	0	1	0	0	T	100369522	C	T	100369522	1	4	22	0	1	0	0	0	0	0	0	0	17573	776	27	1		1	ZAN	7	100369522	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4004	100369522	58769141	8392	10538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100389759G>T	ENST00000542585.1	+	0	7846				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_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)			TGGCCCCAGAGCCCTTCCAAG	0.667													14	94					2.23348e-06	2.30073e-06	1	1	0	T	100389759	G	T	100389759	1	4	22	0	1	0	0	0	0	0	0	0	17573	962	34	2		2	ZAN	7	100389759	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20237	100389759	58748904	8393	10539											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	399					0	0	1	0	0	A	100404160	G	A	100404160	3	1	22	1	0	0	0	0	1	0	0	0	5205	1116	39	1	613	1	EPHB4	7	100404160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14401	100404160	58734503	8394	10540											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	907					0	0	1	0	0	A	100410515	G	A	100410515	3	1	22	1	0	0	0	0	1	0	0	0	5205	1086	38	1	1015	1	EPHB4	7	100410515	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6355	100410515	58728148	8395	10541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360620.3_Missense_Mutation_p.A220T|EPHB4_ENST00000477446.1_5'UTR	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													15	50					0	0	1	0	0	T	100420043	C	T	100420043	3	4	22	1	0	0	0	0	1	0	0	0	5205	739	26	2	2361	2	EPHB4	7	100420043	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9528	100420043	58718620	8396	10542											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360620.3_Silent_p.C197C|EPHB4_ENST00000477446.1_5'UTR	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													27	116					0	0	1	0	0	A	100420110	G	A	100420110	2	1	22	1	0	0	0	0	0	0	0	1	5205	1079	38	1		1	EPHB4	7	100420110	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	100420110	58718553	8397	10543											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360620.3_Missense_Mutation_p.R56H|EPHB4_ENST00000477446.1_5'UTR	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													13	88					0	0	1	0	0	T	100421510	C	T	100421510	3	4	22	1	0	0	0	0	1	0	0	0	5205	768	27	1	2856	1	EPHB4	7	100421510	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1400	100421510	58717153	8398	10544											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													154	791					5.13159e-70	6.51657e-70	1	1	0	T	100465482	G	T	100465482	5	4	22	1	0	0	0	0	0	0	1	0	16620	985	34	2	115	2	TRIP6	7	100465482	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43972	100465482	58673181	8399	10545											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	318					0	0	1	0	0	T	100470363	C	T	100470363	2	4	22	1	0	0	0	0	0	0	0	1	16620	776	27	1		1	TRIP6	7	100470363	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4881	100470363	58668300	8400	10546											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	412					1.1397e-45	1.39802e-45	1	1	0	A	100470879	C	A	100470879	3	1	22	1	0	0	0	0	1	0	0	0	16620	739	26	2	1419	2	TRIP6	7	100470879	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	516	100470879	58667784	8401	10547											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	684					0	0	1	0	0	T	100482892	C	T	100482892	2	4	22	1	0	0	0	0	0	0	0	1	15228	535	19	1		1	SRRT	7	100482892	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12013	100482892	58655771	8402	10548											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	292					2.02726e-29	2.36871e-29	1	1	0	A	100482962	C	A	100482962	3	1	22	1	0	0	0	0	1	0	0	0	15228	739	26	2	1322	2	SRRT	7	100482962	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70	100482962	58655701	8403	10549											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428317.1_Silent_p.S572S|ACHE_ENST00000241069.5_Silent_p.S572S|ACHE_ENST00000411582.1_Silent_p.S572S|ACHE_ENST00000412389.1_Silent_p.S572S|ACHE_ENST00000419336.2_Silent_p.S484S	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													19	88					0	0	1	0	0	A	100488797	G	A	100488797	2	1	22	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	8404	10550											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428317.1_Missense_Mutation_p.F352L|ACHE_ENST00000241069.5_Missense_Mutation_p.F352L|ACHE_ENST00000411582.1_Missense_Mutation_p.F352L|ACHE_ENST00000412389.1_Missense_Mutation_p.F352L|ACHE_ENST00000419336.2_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													11	141					1.58986e-06	1.64048e-06	1	1	0	T	100490798	G	T	100490798	3	4	22	1	0	0	0	0	1	0	0	0	141	1165	41	2	939	2	ACHE	7	100490798	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2001	100490798	58647865	8405	10551											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428317.1_Missense_Mutation_p.G151V|ACHE_ENST00000241069.5_Missense_Mutation_p.G151V|ACHE_ENST00000411582.1_Missense_Mutation_p.G151V|ACHE_ENST00000412389.1_Missense_Mutation_p.G151V|ACHE_ENST00000419336.2_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													124	468					3.79751e-50	4.70383e-50	1	1	0	A	100491402	C	A	100491402	3	1	22	1	0	0	0	0	1	0	0	0	141	623	22	2	1543	2	ACHE	7	100491402	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	604	100491402	58647261	8406	10552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	156					3.19069e-20	3.57165e-20	1	1	0	A	100663468	C	A	100663468	3	1	22	1	0	0	0	0	1	0	0	0	10022	797	28	2	54	2	MUC17	7	100663468	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172066	100663468	58475195	8407	10553											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	2633					0	0	1	0	0	T	100676247	C	T	100676247	3	4	22	1	0	0	0	0	1	0	0	0	10022	913	32	2	1560	2	MUC17	7	100676247	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12779	100676247	58462416	8408	10554											
MUC17	140453	broad.mit.edu	37	chr7	100679840	100679840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccctttcaacaactcccGttgacaacagcacacctgtg	6	16	1	1	rs149023842	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100679840G>A	ENST00000306151.4	+	3	5207	c.5143G>A	c.(5143-5145)Gtt>Att	p.V1715I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1715	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)					AACAACTCCCGTTGACAACAG	0.468													412	1578					0	0	1	0	0	A	100679840	G	A	100679840	3	1	22	1	0	0	0	0	1	0	0	0	10022	1145	40	1	5153	1	MUC17	7	100679840	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3593	100679840	58458823	8409	10555											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													286	1253					0	0	1	0	0	G	100681006	A	G	100681006	2	3	22	1	0	0	0	0	0	0	0	1	10022	378	14	3		3	MUC17	7	100681006	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1166	100681006	58457657	8410	10556											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	453					0	0	1	0	0	C	100730866	T	C	100730866	2	2	22	1	0	0	0	0	0	0	0	1	16591	1702	59	3		3	TRIM56	7	100730866	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49860	100730866	58407797	8411	10557											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	252					0	0	1	0	0	T	100730929	C	T	100730929	2	4	22	1	0	0	0	0	0	0	0	1	16591	639	23	1		1	TRIM56	7	100730929	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63	100730929	58407734	8412	10558											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	289					0	0	1	0	0	A	100777156	G	A	100777156	3	1	22	1	0	0	0	0	1	0	0	0	14165	1087	38	1	895	1	SERPINE1	7	100777156	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46227	100777156	58361507	8413	10559											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	310					0	0	1	0	0	T	100779051	C	T	100779051	2	4	22	1	0	0	0	0	0	0	0	1	14165	535	19	1		1	SERPINE1	7	100779051	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1895	100779051	58359612	8414	10560											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	119					9.78485e-24	1.11444e-23	1	1	0	A	100802426	C	A	100802426	2	1	22	1	0	0	0	0	0	0	0	1	732	668	24	2		2	AP1S1	7	100802426	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23375	100802426	58336237	8415	10561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	442					0	0	1	0	0	A	100842058	G	A	100842058	2	1	22	1	0	0	0	0	0	0	0	1	9745	1252	44	2		2	MOGAT3	7	100842058	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39632	100842058	58296605	8416	10562											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	885					0	0	1	0	0	A	100843573	G	A	100843573	3	1	22	1	0	0	0	0	1	0	0	0	9745	1059	37	1	815	1	MOGAT3	7	100843573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1515	100843573	58295090	8417	10563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	224					0	0	1	0	0	A	100859508	G	A	100859508	2	1	22	1	0	0	0	0	0	0	0	1	12151	1103	39	1		1	PLOD3	7	100859508	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15935	100859508	58279155	8418	10564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	391					4.17052e-40	5.05327e-40	1	1	0	T	101256954	G	T	101256954	3	4	22	1	0	0	0	0	1	0	0	0	10092	1281	45	2	118	2	MYL10	7	101256954	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	397446	101256954	57881709	8419	10565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000292535.7_Missense_Mutation_p.E36K|CUX1_ENST00000549414.2_Missense_Mutation_p.E36K|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000556210.1_Missense_Mutation_p.E36K|CUX1_ENST00000547394.2_Missense_Mutation_p.E47K|CUX1_ENST00000437600.4_Missense_Mutation_p.E47K|CUX1_ENST00000425244.2_Missense_Mutation_p.E47K|CUX1_ENST00000292538.4_Missense_Mutation_p.E47K|CUX1_ENST00000550008.2_Missense_Mutation_p.E36K|CUX1_ENST00000546411.2_Missense_Mutation_p.E36K	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													114	530					0	0	1	0	0	A	101559470	G	A	101559470	3	1	22	1	0	0	0	0	1	0	0	0	4087	1059	37	1	179	1	CUX1	7	101559470	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302516	101559470	57579193	8420	10566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393824.3_Silent_p.L127L|CUX1_ENST00000437600.4_Silent_p.L164L|CUX1_ENST00000292535.7_Silent_p.L153L|CUX1_ENST00000292538.4_Silent_p.L164L|CUX1_ENST00000549414.2_Silent_p.L153L|CUX1_ENST00000425244.2_Silent_p.L118L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Silent_p.L148L|CUX1_ENST00000556210.1_Silent_p.L153L|CUX1_ENST00000546411.2_Silent_p.L153L|CUX1_ENST00000550008.2_Silent_p.L153L	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													111	534					0	0	1	0	0	T	101747666	C	T	101747666	2	4	22	1	0	0	0	0	0	0	0	1	4087	564	20	2		2	CUX1	7	101747666	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	188196	101747666	57390997	8421	10567											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393824.3_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.T1030A|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.T1008A|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.T872A|CUX1_ENST00000546411.2_Missense_Mutation_p.T928A|CUX1_ENST00000550008.2_Missense_Mutation_p.T974A	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													10	324					0	0	1	0	0	G	101848408	A	G	101848408	3	3	22	1	0	0	0	0	1	0	0	0	4087	275	10	3	3233	3	CUX1	7	101848408	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	100742	101848408	57290255	8422	10568											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393824.3_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.G1155W|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.G1133W|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.G997W|CUX1_ENST00000546411.2_Missense_Mutation_p.G1053W|CUX1_ENST00000550008.2_Missense_Mutation_p.G1099W	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													58	350					2.67592e-24	3.05781e-24	1	1	0	T	101877361	G	T	101877361	3	4	22	1	0	0	0	0	1	0	0	0	4087	1000	35	2	3616	2	CUX1	7	101877361	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28953	101877361	57261302	8423	10569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393824.3_Intron|CUX1_ENST00000292535.7_Nonsense_Mutation_p.R1179*|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Nonsense_Mutation_p.R1157*|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Nonsense_Mutation_p.R1021*|CUX1_ENST00000546411.2_Nonsense_Mutation_p.R1077*|CUX1_ENST00000550008.2_Nonsense_Mutation_p.R1123*	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													82	270					0	0	1	0	0	T	101877433	C	T	101877433	4	4	22	1	0	0	0	0	0	1	0	0	4087	528	19	1	3688	1	CUX1	7	101877433	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72	101877433	57261230	8424	10570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393824.3_Silent_p.I403I|CUX1_ENST00000292538.4_Silent_p.I442I|CUX1_ENST00000425244.2_Silent_p.I396I|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Silent_p.I426I	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													16	91					0	0	1	0	0	T	101916707	C	T	101916707	2	4	22	1	0	0	0	0	0	0	0	1	4087	874	31	1		1	CUX1	7	101916707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39274	101916707	57221956	8425	10571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393824.3_Silent_p.L515L|CUX1_ENST00000292538.4_Silent_p.L554L|CUX1_ENST00000425244.2_Silent_p.L508L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Silent_p.L538L	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													15	116					0	0	1	0	0	A	101921318	G	A	101921318	2	1	22	1	0	0	0	0	0	0	0	1	4087	1306	46	2		2	CUX1	7	101921318	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4611	101921318	57217345	8426	10572											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	194					0	0	1	0	0	T	102098304	C	T	102098304	3	4	22	1	0	0	0	0	1	0	0	0	525	652	23	1	466	1	ALKBH4	7	102098304	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176986	102098304	57040359	8427	10573											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	203					0	0	1	0	0	T	102106440	C	T	102106440	3	4	22	1	0	0	0	0	1	0	0	0	9092	739	26	2	263	2	LRWD1	7	102106440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8136	102106440	57032223	8428	10574											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	35	161					0	0	1	0	0	A	102107909	G	A	102107909	3	1	22	1	0	0	0	0	1	0	0	0	9092	1059	37	1	570	1	LRWD1	7	102107909	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1469	102107909	57030754	8429	10575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	310					0	0	1	0	0	A	102113476	G	A	102113476	3	1	22	1	0	0	0	0	1	0	0	0	9092	971	34	2	1982	2	LRWD1	7	102113476	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5567	102113476	57025187	8430	10576											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379308.3_Missense_Mutation_p.C392Y|FBXL13_ENST00000313221.4_Missense_Mutation_p.C392Y|FBXL13_ENST00000379305.3_Missense_Mutation_p.C392Y|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Missense_Mutation_p.C392Y|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_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													48	234					0	0	1	0	0	T	102524065	C	T	102524065	3	4	22	1	0	0	0	0	1	0	0	0	5742	478	17	2	1064	2	FBXL13	7	102524065	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	410589	102524065	56614598	8431	10577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341533.4_Missense_Mutation_p.L145I|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.L218I|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													105	351					4.18329e-38	5.03435e-38	1	1	0	T	102760532	G	T	102760532	3	4	22	1	0	0	0	0	1	0	0	0	10211	942	33	2	760	2	NAPEPLD	7	102760532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	236467	102760532	56378131	8432	10578											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	DNAJC2_ENST00000249270.7_Missense_Mutation_p.P162H|PMPCB_ENST00000420236.2_Intron	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													35	180					7.16026e-08	7.45543e-08	1	1	0	T	102967077	G	T	102967077	3	4	22	1	0	0	0	0	1	0	0	0	4666	1000	35	2	1432	2	DNAJC2	7	102967077	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	206545	102967077	56171586	8433	10579											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544811.1_Silent_p.S250S|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Silent_p.S387S|SLC26A5_ENST00000339444.6_Intron	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													80	432					0	0	1	0	0	T	103008360	C	T	103008360	2	4	22	1	0	0	0	0	0	0	0	1	12735	767	27	1		1	PSMC2	7	103008360	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41283	103008360	56130303	8434	10580											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356767.4_Intron|SLC26A5_ENST00000393723.1_Missense_Mutation_p.T708I|SLC26A5_ENST00000393727.1_Missense_Mutation_p.T740I|SLC26A5_ENST00000393730.1_Missense_Mutation_p.T706I|SLC26A5_ENST00000354356.4_Missense_Mutation_p.T171I|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393729.1_Missense_Mutation_p.T701I	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													38	135					0	0	1	0	0	A	103014868	G	A	103014868	3	1	22	1	0	0	0	0	1	0	0	0	14575	1029	36	2	66	2	SLC26A5	7	103014868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6508	103014868	56123795	8435	10581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356767.4_Intron|SLC26A5_ENST00000393723.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000393727.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000393730.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000354356.4_Intron|SLC26A5_ENST00000339444.6_Missense_Mutation_p.A345D|SLC26A5_ENST00000393729.1_Missense_Mutation_p.A308D	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													72	295					6.00099e-30	7.02477e-30	1	1	0	T	103033451	G	T	103033451	3	4	22	1	0	0	0	0	1	0	0	0	14575	1203	42	2	1285	2	SLC26A5	7	103033451	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18583	103033451	56105212	8436	10582											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RELN_ENST00000424685.2_Silent_p.L2976L|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_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													31	201					0	0	1	0	0	A	103138291	G	A	103138291	2	1	22	1	0	0	0	0	0	0	0	1	13272	962	34	2		2	RELN	7	103138291	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104840	103138291	56000372	8437	10583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RELN_ENST00000424685.2_Missense_Mutation_p.Y2928C|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_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													90	388					0	0	1	0	0	C	103138584	T	C	103138584	3	2	22	1	0	0	0	0	1	0	0	0	13272	1406	49	3	1647	3	RELN	7	103138584	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	293	103138584	56000079	8438	10584											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RELN_ENST00000424685.2_Silent_p.R2895R|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_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													58	311					0	0	1	0	0	A	103138682	G	A	103138682	2	1	22	1	0	0	0	0	0	0	0	1	13272	958	34	2		2	RELN	7	103138682	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98	103138682	55999981	8439	10585											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	RELN_ENST00000424685.2_Nonsense_Mutation_p.Y2877*|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_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													20	560					3.5997e-14	3.90403e-14	1	1	0	T	103141228	G	T	103141228	4	4	22	1	0	0	0	0	0	1	0	0	13272	1024	36	2	1803	2	RELN	7	103141228	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2546	103141228	55997435	8440	10586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103175782G>A	ENST00000428762.1	-	46	7489	c.7330C>T	c.(7330-7332)Cct>Tct	p.P2444S	RELN_ENST00000424685.2_Missense_Mutation_p.P2444S|RELN_ENST00000343529.5_Missense_Mutation_p.P2444S	NM_005045.3	NP_005036.2	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													30	159					0	0	1	0	0	A	103175782	G	A	103175782	3	1	22	1	0	0	0	0	1	0	0	0	13272	1203	42	2	3132	2	RELN	7	103175782	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34554	103175782	55962881	8441	10587											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103191616G>T	ENST00000428762.1	-	41	6359	c.6200C>A	c.(6199-6201)tCt>tAt	p.S2067Y	RELN_ENST00000424685.2_Missense_Mutation_p.S2067Y|RELN_ENST00000343529.5_Missense_Mutation_p.S2067Y	NM_005045.3	NP_005036.2	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													25	206					3.6726e-16	4.02855e-16	1	1	0	T	103191616	G	T	103191616	3	4	22	1	0	0	0	0	1	0	0	0	13272	942	33	2	4282	2	RELN	7	103191616	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15834	103191616	55947047	8442	10588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103197551G>A	ENST00000428762.1	-	38	5829	c.5670C>T	c.(5668-5670)atC>atT	p.I1890I	RELN_ENST00000424685.2_Silent_p.I1890I|RELN_ENST00000343529.5_Silent_p.I1890I	NM_005045.3	NP_005036.2	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													64	304					0	0	1	0	0	A	103197551	G	A	103197551	2	1	22	1	0	0	0	0	0	0	0	1	13272	1280	45	2		2	RELN	7	103197551	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5935	103197551	55941112	8443	10589											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103215993A>G	ENST00000428762.1	-	29	4463		c.e29+1		RELN_ENST00000424685.2_Splice_Site|RELN_ENST00000343529.5_Splice_Site	NM_005045.3	NP_005036.2	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													45	266					0	0	1	0	0	G	103215993	A	G	103215993	5	3	22	1	0	0	0	0	0	0	1	0	13272	405	14	3	6225	3	RELN	7	103215993	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18442	103215993	55922670	8444	10590											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103276725G>A	ENST00000428762.1	-	18	2419	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	RELN_ENST00000424685.2_Missense_Mutation_p.R754W|RELN_ENST00000343529.5_Missense_Mutation_p.R754W	NM_005045.3	NP_005036.2	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													36	138					0	0	1	0	0	A	103276725	G	A	103276725	3	1	22	1	0	0	0	0	1	0	0	0	13272	1086	38	1	8314	1	RELN	7	103276725	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60732	103276725	55861938	8445	10591											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103290811G>A	ENST00000428762.1	-	16	2071	c.1912C>T	c.(1912-1914)Ccc>Tcc	p.P638S	RELN_ENST00000424685.2_Missense_Mutation_p.P638S|RELN_ENST00000343529.5_Missense_Mutation_p.P638S	NM_005045.3	NP_005036.2	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													10	309					0	0	1	0	0	A	103290811	G	A	103290811	3	1	22	1	0	0	0	0	1	0	0	0	13272	1174	41	2	8670	2	RELN	7	103290811	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14086	103290811	55847852	8446	10592											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103292173T>C	ENST00000428762.1	-	15	1986	c.1827A>G	c.(1825-1827)ttA>ttG	p.L609L	RELN_ENST00000424685.2_Silent_p.L609L|RELN_ENST00000343529.5_Silent_p.L609L	NM_005045.3	NP_005036.2	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													28	192					0	0	1	0	0	C	103292173	T	C	103292173	2	2	22	1	0	0	0	0	0	0	0	1	13272	1635	57	3		3	RELN	7	103292173	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1362	103292173	55846490	8447	10593											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000401970.2_Missense_Mutation_p.A136T|LHFPL3_ENST00000543266.1_Intron	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													11	69					0	0	1	0	0	A	104377124	G	A	104377124	3	1	22	1	0	0	0	0	1	0	0	0	8806	1319	46	2	454	2	LHFPL3	7	104377124	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1084951	104377124	54761539	8448	10594											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	499					8.64887e-64	1.09215e-63	1	1	0	T	105177065	G	T	105177065	3	4	22	1	0	0	0	0	1	0	0	0	13428	942	33	2	152	2	RINT1	7	105177065	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	799941	105177065	53961598	8449	10595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	543					2.96303e-67	3.7527e-67	1	1	0	T	105189035	G	T	105189035	4	4	22	1	0	0	0	0	0	1	0	0	13428	943	33	2	900	2	RINT1	7	105189035	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11970	105189035	53949628	8450	10596											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	286					0	0	1	0	0	C	105190563	A	C	105190563	3	2	22	1	0	0	0	0	1	0	0	0	13428	304	11	3	1088	3	RINT1	7	105190563	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1528	105190563	53948100	8451	10597											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	244					0	0	1	0	0	T	105204333	C	T	105204333	3	4	22	1	0	0	0	0	1	0	0	0	13428	652	23	1	1871	1	RINT1	7	105204333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13770	105204333	53934330	8452	10598											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343407.5_Intron|CDHR3_ENST00000478080.1_Missense_Mutation_p.N481D|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000317716.9_Missense_Mutation_p.N569D			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													33	157					0	0	1	0	0	G	105660870	A	G	105660870	3	3	22	1	0	0	0	0	1	0	0	0	3142	14	1	3	1755	3	CDHR3	7	105660870	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	456537	105660870	53477793	8453	10599											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000470347.1_Missense_Mutation_p.A58S|SYPL1_ENST00000011473.2_Missense_Mutation_p.A76S	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													13	487					7.93312e-07	8.20014e-07	1	1	0	A	105739626	C	A	105739626	3	1	22	1	0	0	0	0	1	0	0	0	15519	797	28	2	569	2	SYPL1	7	105739626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78756	105739626	53399037	8454	10600											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002649.2	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													18	328					0	0	1	0	0	A	106508946	G	A	106508946	3	1	22	1	0	0	0	0	1	0	0	0	11964	1203	42	2	942	2	PIK3CG	7	106508946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	769320	106508946	52629717	8455	10601											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002649.2	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													123	516					0	0	1	0	0	A	106513018	G	A	106513018	3	1	22	1	0	0	0	0	1	0	0	0	11964	1319	46	2	2038	2	PIK3CG	7	106513018	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4072	106513018	52625645	8456	10602											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002649.2	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													67	341					0	0	1	0	0	T	106513208	C	T	106513208	2	4	22	1	0	0	0	0	0	0	0	1	11964	610	22	2		2	PIK3CG	7	106513208	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	190	106513208	52625455	8457	10603											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTA-360L10.1_ENST00000494849.1_RNA|PRKAR2B_ENST00000393613.2_3'UTR	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													33	177					0	0	1	0	0	T	106762403	C	T	106762403	3	4	22	1	0	0	0	0	1	0	0	0	12558	710	25	2	360	2	PRKAR2B	7	106762403	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249195	106762403	52376260	8458	10604											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000485846.1_Missense_Mutation_p.M10I|HBP1_ENST00000468410.1_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													40	516					0	0	1	0	0	A	106820368	G	A	106820368	3	1	22	1	0	0	0	0	1	0	0	0	7026	1319	46	2	32	2	HBP1	7	106820368	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57965	106820368	52318295	8459	10605											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													181	847					0	0	1	0	0	T	107214206	C	T	107214206	3	4	22	1	0	0	0	0	1	0	0	0	4834	797	28	2	306	2	DUS4L	7	107214206	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	393838	107214206	51924457	8460	10606											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				138	661					0	0	1	0	0	C	107315528	T	C	107315528	3	2	22	1	0	0	0	0	1	0	0	0	14574	1522	53	3	757	3	SLC26A4	7	107315528	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	101322	107315528	51823135	8461	10607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.P114H|SLC26A4_ENST00000543100.1_Missense_Mutation_p.P122H	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				43	212					2.24722e-20	2.51766e-20	1	1	0	A	107340571	C	A	107340571	3	1	22	1	0	0	0	0	1	0	0	0	14574	681	24	2	1712	2	SLC26A4	7	107340571	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25043	107340571	51798092	8462	10608											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.K154Q|SLC26A4_ENST00000543100.1_Missense_Mutation_p.K162Q	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				12	262					0	0	1	0	0	C	107341615	A	C	107341615	3	2	22	1	0	0	0	0	1	0	0	0	14574	15	1	3	1835	3	SLC26A4	7	107341615	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1044	107341615	51797048	8463	10609											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107399574C>A	ENST00000440859.2	+	6	1894	c.1427C>A	c.(1426-1428)cCt>cAt	p.P476H	CBLL1_ENST00000222597.2_Missense_Mutation_p.P475H	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	476	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													123	561					8.33822e-44	1.01909e-43	1	1	0	A	107399574	C	A	107399574	3	1	22	1	0	0	0	0	1	0	0	0	2721	681	24	2	1449	2	CBLL1	7	107399574	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57959	107399574	51739089	8464	10610											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107416898G>T	ENST00000340010.5	-	15	1860	c.1677_splice	c.e15+1	p.A559_splice	SLC26A3_ENST00000422236.2_Splice_Site_p.A524_splice	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													45	257					1.76056e-25	2.02043e-25	1	1	0	T	107416898	G	T	107416898	5	4	22	1	0	0	0	0	0	0	1	0	14573	985	34	2	646	2	SLC26A3	7	107416898	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17324	107416898	51721765	8465	10611											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	212					3.76525e-18	4.17087e-18	1	1	0	A	107416977	C	A	107416977	4	1	22	1	0	0	0	0	0	1	0	0	14573	922	32	2	725	2	SLC26A3	7	107416977	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79	107416977	51721686	8466	10612											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	404					0	0	1	0	0	A	107423656	G	A	107423656	2	1	22	1	0	0	0	0	0	0	0	1	14573	1306	46	2		2	SLC26A3	7	107423656	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6679	107423656	51715007	8467	10613											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537148.1_Silent_p.R164R|DLD_ENST00000440410.1_Silent_p.R240R|DLD_ENST00000437604.2_Silent_p.R215R	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													7	419					0	0	1	0	0	T	107556055	C	T	107556055	2	4	22	1	0	0	0	0	0	0	0	1	4579	697	25	2		2	DLD	7	107556055	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132399	107556055	51582608	8468	10614											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	336					0	0	1	0	0	T	107569959	C	T	107569959	3	4	22	1	0	0	0	0	1	0	0	0	8649	536	19	1	737	1	LAMB1	7	107569959	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13904	107569959	51568704	8469	10615											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	165					6.2361e-21	7.00342e-21	1	1	0	A	107616323	C	A	107616323	5	1	22	1	0	0	0	0	0	0	1	0	8649	927	32	2	4460	2	LAMB1	7	107616323	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46364	107616323	51522340	8470	10616											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	380					0	0	1	0	0	T	107626718	C	T	107626718	3	4	22	1	0	0	0	0	1	0	0	0	8649	739	26	2	4962	2	LAMB1	7	107626718	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10395	107626718	51511945	8471	10617											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	387					2.165e-29	2.52906e-29	1	1	0	A	107638873	C	A	107638873	3	1	22	1	0	0	0	0	1	0	0	0	8649	797	28	2	5206	2	LAMB1	7	107638873	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12155	107638873	51499790	8472	10618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000483484.1_5'UTR|LAMB4_ENST00000388780.3_Missense_Mutation_p.A1549T|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1549T	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													146	814					0	0	1	0	0	T	107677867	C	T	107677867	3	4	22	1	0	0	0	0	1	0	0	0	8652	797	28	2	660	2	LAMB4	7	107677867	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38994	107677867	51460796	8473	10619											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	296					0	0	1	0	0	T	107706353	C	T	107706353	3	4	22	1	0	0	0	0	1	0	0	0	8652	507	18	2	2651	2	LAMB4	7	107706353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28486	107706353	51432310	8474	10620											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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													28	127					0	0	1	0	0	T	107743565	C	T	107743565	2	4	22	1	0	0	0	0	0	0	0	1	8652	726	26	2		2	LAMB4	7	107743565	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37212	107743565	51395098	8475	10621											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413765.2_Silent_p.D1128D|NRCAM_ENST00000379024.4_Silent_p.D1140D|NRCAM_ENST00000351718.4_Silent_p.D1131D|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													175	724					0	0	1	0	0	A	107790514	G	A	107790514	2	1	22	1	0	0	0	0	0	0	0	1	10692	1136	40	1		1	NRCAM	7	107790514	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46949	107790514	51348149	8476	10622											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413765.2_Missense_Mutation_p.H670N|NRCAM_ENST00000379022.4_Missense_Mutation_p.H689N|NRCAM_ENST00000379024.4_Missense_Mutation_p.H670N|NRCAM_ENST00000351718.4_Missense_Mutation_p.H673N|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													29	135					3.00307e-07	3.1154e-07	1	1	0	T	107825029	G	T	107825029	3	4	22	1	0	0	0	0	1	0	0	0	10692	1319	46	2	1931	2	NRCAM	7	107825029	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34515	107825029	51313634	8477	10623											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413765.2_Silent_p.V624V|NRCAM_ENST00000379022.4_Silent_p.V643V|NRCAM_ENST00000379024.4_Silent_p.V624V|NRCAM_ENST00000351718.4_Intron|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													9	47					0	0	1	0	0	C	107831702	A	C	107831702	2	2	22	1	0	0	0	0	0	0	0	1	10692	1	1	3		3	NRCAM	7	107831702	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6673	107831702	51306961	8478	10624											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453144.1_Missense_Mutation_p.V469L|PNPLA8_ENST00000257694.8_Missense_Mutation_p.V569L|PNPLA8_ENST00000426128.2_Intron|PNPLA8_ENST00000388728.5_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													56	248					1.42676e-28	1.66098e-28	1	1	0	A	108128376	C	A	108128376	3	1	22	1	0	0	0	0	1	0	0	0	12219	565	20	2	655	2	PNPLA8	7	108128376	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	296674	108128376	51010287	8479	10625											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422087.1_Missense_Mutation_p.A127V|PNPLA8_ENST00000453144.1_Missense_Mutation_p.A27V|PNPLA8_ENST00000257694.8_Missense_Mutation_p.A127V|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000388728.5_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													22	262					0	0	1	0	0	A	108155556	G	A	108155556	3	1	22	1	0	0	0	0	1	0	0	0	12219	971	34	2	2004	2	PNPLA8	7	108155556	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27180	108155556	50983107	8480	10626											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	382					0	0	1	0	0	A	108524165	G	A	108524165	3	1	22	1	0	0	0	0	1	0	0	0	2428	1290	45	2	104	2	C7orf66	7	108524165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	368609	108524165	50614498	8481	10627											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000308478.5_Missense_Mutation_p.V53L|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.V53L|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_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													76	555					4.38691e-48	5.40915e-48	1	1	0	T	110762985	G	T	110762985	3	4	22	1	0	0	0	0	1	0	0	0	9081	1029	36	2	159	2	LRRN3	7	110762985	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2238820	110762985	48375678	8482	10628											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111379299G>A	ENST00000428084.1	-	49	5395	c.5122_splice	c.e49-1	p.A1708_splice	DOCK4_ENST00000437633.1_Splice_Site_p.A1699_splice|DOCK4_ENST00000494651.2_Splice_Site_p.A582_splice			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													48	231					0	0	1	0	0	A	111379299	G	A	111379299	5	1	22	1	0	0	0	0	0	0	1	0	4716	985	34	2	824	2	DOCK4	7	111379299	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	616314	111379299	47759364	8483	10629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	95					6.5536e-12	7.0158e-12	1	1	0	A	111381614	C	A	111381614	3	1	22	1	0	0	0	0	1	0	0	0	4716	681	24	2	1058	2	DOCK4	7	111381614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2315	111381614	47757049	8484	10630											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	64					0	0	1	0	0	A	111386404	G	A	111386404	2	1	22	1	0	0	0	0	0	0	0	1	4716	962	34	2		2	DOCK4	7	111386404	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4790	111386404	47752259	8485	10631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	461					0	0	1	0	0	G	111422941	A	G	111422941	2	3	22	1	0	0	0	0	0	0	0	1	4716	126	5	3		3	DOCK4	7	111422941	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36537	111422941	47715722	8486	10632											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	441					0	0	1	0	0	A	111484842	G	A	111484842	3	1	22	1	0	0	0	0	1	0	0	0	4716	1086	38	1	3299	1	DOCK4	7	111484842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61901	111484842	47653821	8487	10633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	68					0	0	1	0	0	T	111508079	C	T	111508079	2	4	22	1	0	0	0	0	0	0	0	1	4716	755	27	1		1	DOCK4	7	111508079	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23237	111508079	47630584	8488	10634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	356					0	0	1	0	0	A	111575597	G	A	111575597	3	1	22	1	0	0	0	0	1	0	0	0	4716	1319	46	2	5000	2	DOCK4	7	111575597	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67518	111575597	47563066	8489	10635											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	72					0	0	1	0	0	T	111617186	C	T	111617186	5	4	22	1	0	0	0	0	0	0	1	0	4716	521	18	2	5378	2	DOCK4	7	111617186	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41589	111617186	47521477	8490	10636											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	234					0	0	1	0	0	G	111936363	A	G	111936363	2	3	22	1	0	0	0	0	0	0	0	1	17870	272	10	3		3	ZNF277	7	111936363	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	319177	111936363	47202300	8491	10637											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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													55	296					0	0	1	0	0	G	111979911	T	G	111979911	3	3	22	1	0	0	0	0	1	0	0	0	17870	1841	64	3	1018	3	ZNF277	7	111979911	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43548	111979911	47158752	8492	10638											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535603.1_5'UTR|IFRD1_ENST00000005558.4_Missense_Mutation_p.G33S|IFRD1_ENST00000429071.1_Missense_Mutation_p.G33S	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													68	357					0	0	1	0	0	A	112095820	G	A	112095820	3	1	22	1	0	0	0	0	1	0	0	0	7597	1348	47	2	103	2	IFRD1	7	112095820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115909	112095820	47042843	8493	10639											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535603.1_Missense_Mutation_p.S2C|IFRD1_ENST00000005558.4_Missense_Mutation_p.S52C|IFRD1_ENST00000429071.1_Missense_Mutation_p.S52C	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													71	404					0	0	1	0	0	T	112095877	A	T	112095877	3	4	22	1	0	0	0	0	1	0	0	0	7597	304	11	5	160	5	IFRD1	7	112095877	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	57	112095877	47042786	8494	10640											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535603.1_Missense_Mutation_p.I367M|IFRD1_ENST00000005558.4_Missense_Mutation_p.I417M	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													43	375					0	0	1	0	0	G	112112901	T	G	112112901	3	3	22	1	0	0	0	0	1	0	0	0	7597	1829	64	3	1293	3	IFRD1	7	112112901	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17024	112112901	47025762	8495	10641											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112423788G>A	ENST00000312814.5	-	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	365						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													117	514					0	0	1	0	0	A	112423788	G	A	112423788	3	1	22	1	0	0	0	0	1	0	0	0	16143	942	33	2	1016	2	TMEM168	7	112423788	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	310887	112423788	46714875	8496	10642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112424589A>G	ENST00000312814.5	-	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	98						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													34	192					0	0	1	0	0	G	112424589	A	G	112424589	3	3	22	1	0	0	0	0	1	0	0	0	16143	130	5	3	1817	3	TMEM168	7	112424589	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	801	112424589	46714074	8497	10643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	409					0	0	1	0	0	T	113519452	C	T	113519452	2	4	22	1	0	0	0	0	0	0	0	1	12420	697	25	2		2	PPP1R3A	7	113519452	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1094863	113519452	45619211	8498	10644											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	217					5.59293e-11	5.94944e-11	1	1	0	A	113519685	C	A	113519685	3	1	22	1	0	0	0	0	1	0	0	0	12420	913	32	2	1910	2	PPP1R3A	7	113519685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	233	113519685	45618978	8499	10645											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	446					0	0	1	0	0	C	113522121	T	C	113522121	2	2	22	1	0	0	0	0	0	0	0	1	12420	1722	60	3		3	PPP1R3A	7	113522121	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2436	113522121	45616542	8500	10646											
FOXP2	93986	broad.mit.edu	37	chr7	114269970	114269970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcaacaacagcagcaGcaacaacaacaacaacagca	6	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114269970G>A	ENST00000393500.3	+	11	1102	c.282G>A	c.(280-282)caG>caA	p.Q94Q	FOXP2_ENST00000393498.2_Silent_p.Q149Q|FOXP2_ENST00000403559.4_Silent_p.Q186Q|FOXP2_ENST00000393494.2_Silent_p.Q169Q|FOXP2_ENST00000393489.3_Silent_p.Q77Q|FOXP2_ENST00000408937.3_Silent_p.Q194Q|FOXP2_ENST00000393491.3_Silent_p.Q77Q|FOXP2_ENST00000360232.4_Silent_p.Q169Q|FOXP2_ENST00000350908.4_Silent_p.Q169Q|FOXP2_ENST00000390668.3_Silent_p.Q193Q|FOXP2_ENST00000378237.3_Silent_p.Q169Q|AC020606.1_ENST00000580664.1_RNA			O15409	FOXP2_HUMAN	forkhead box P2	169	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						aacagcagcagcaacaacaac	0.502													35	213					0	0	1	0	0	A	114269970	G	A	114269970	2	1	22	1	0	0	0	0	0	0	0	1	6061	962	34	2		2	FOXP2	7	114269970	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	747849	114269970	44868693	8501	10647											
FOXP2	93986	broad.mit.edu	37	chr7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-													aacagcagcagcagcagcaaCagcagcagcagcagcaacag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114270016_114270018delCAG	ENST00000393500.3	+	11	1148_1150	c.328_330delCAG	c.(328-330)del	p.Q116del	FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del			O15409	FOXP2_HUMAN	forkhead box P2	191	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	p.Q210Q(2)		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						gcagcagcaacagcagcagcagc	0.507													7	332	---	---	---	---						-	114270018	CAG	-	114270016	7	5	22	1	0	1	0	1	0	0	0	0	6061	479	17	0	701	0	FOXP2	7	114270016	In_Frame_Del	DEL	CAG	TCGA-IB-7651-01A-11D-2154-08	46	114270016	44868647	8502	10648											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393498.2_Silent_p.S275S|FOXP2_ENST00000403559.4_Silent_p.S313S|FOXP2_ENST00000393494.2_Silent_p.S296S|FOXP2_ENST00000393489.3_Silent_p.S204S|FOXP2_ENST00000408937.3_Silent_p.S321S|FOXP2_ENST00000393491.3_Silent_p.S204S|FOXP2_ENST00000360232.4_Silent_p.S296S|FOXP2_ENST00000350908.4_Silent_p.S296S|FOXP2_ENST00000390668.3_Silent_p.S320S|FOXP2_ENST00000378237.3_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													51	434					1.51926e-22	1.72e-22	1	1	0	A	114282577	C	A	114282577	2	1	22	1	0	0	0	0	0	0	0	1	6061	668	24	2		2	FOXP2	7	114282577	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12561	114282577	44856086	8503	10649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114655944C>A	ENST00000257724.3	+	5	1286	c.1023C>A	c.(1021-1023)tgC>tgA	p.C341*	MDFIC_ENST00000393486.1_Nonsense_Mutation_p.C232*			Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	232					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													158	723					1.893e-82	2.42261e-82	1	1	0	A	114655944	C	A	114655944	4	1	22	1	0	0	0	0	0	1	0	0	9455	805	28	2	1083	2	MDFIC	7	114655944	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	373367	114655944	44482719	8504	10650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457268.1_Missense_Mutation_p.V180A|TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Missense_Mutation_p.V218A	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													95	494					0	0	1	0	0	G	115580909	A	G	115580909	3	3	22	1	0	0	0	0	1	0	0	0	15862	275	10	3	307	3	TFEC	7	115580909	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	924965	115580909	43557754	8505	10651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115580986C>A	ENST00000265440.7	-	8	844		c.e8-1		TFEC_ENST00000457268.1_Splice_Site|TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_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													70	294					4.6872e-13	5.05235e-13	1	1	0	A	115580986	C	A	115580986	5	1	22	1	0	0	0	0	0	0	1	0	15862	695	24	2	384	2	TFEC	7	115580986	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77	115580986	43557677	8506	10652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457268.1_Silent_p.R131R|TFEC_ENST00000393485.1_Silent_p.R169R|TFEC_ENST00000320239.7_Silent_p.R169R|TFEC_ENST00000484212.1_Silent_p.R288R	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													147	606					0	0	1	0	0	G	115582018	T	G	115582018	2	3	22	1	0	0	0	0	0	0	0	1	15862	1559	54	3		3	TFEC	7	115582018	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1032	115582018	43556645	8507	10653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393485.1_Intron|TFEC_ENST00000320239.7_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													6	298					0	0	1	0	0	C	115614303	T	C	115614303	3	2	22	1	0	0	0	0	1	0	0	0	15862	1667	58	3	879	3	TFEC	7	115614303	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32285	115614303	43524360	8508	10654											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)				22	533					0	0	1	0	0	C	116339490	A	C	116339490	3	2	22	1	0	0	0	0	1	0	0	0	9535	217	8	3	354	3	MET	7	116339490	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	725187	116339490	42799173	8509	10655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)				96	435					1.07466e-44	1.31567e-44	1	1	0	A	116340022	C	A	116340022	3	1	22	1	0	0	0	0	1	0	0	0	9535	681	24	2	886	2	MET	7	116340022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	532	116340022	42798641	8510	10656											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000318493.6_Silent_p.H542H|MET_ENST00000495962.1_3'UTR|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)				114	473					0	0	1	0	0	T	116381004	C	T	116381004	2	4	22	1	0	0	0	0	0	0	0	1	9535	535	19	1		1	MET	7	116381004	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40982	116381004	42757659	8511	10657											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)				87	360					0	0	1	0	0	C	116403139	T	C	116403139	2	2	22	1	0	0	0	0	0	0	0	1	9535	1731	60	3		3	MET	7	116403139	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22135	116403139	42735524	8512	10658											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)				34	177					2.32173e-10	2.46079e-10	1	1	0	A	116411905	C	A	116411905	3	1	22	1	0	0	0	0	1	0	0	0	9535	912	32	2	2994	2	MET	7	116411905	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8766	116411905	42726758	8513	10659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)				101	497					0	0	1	0	0	T	116415084	C	T	116415084	3	4	22	1	0	0	0	0	1	0	0	0	9535	855	30	2	3286	2	MET	7	116415084	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3179	116415084	42723579	8514	10660											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	567					0	0	1	0	0	A	116937895	G	A	116937895	2	1	22	1	0	0	0	0	0	0	0	1	17446	1195	42	2		2	WNT2	7	116937895	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	522811	116937895	42200768	8515	10661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	517					0	0	1	0	0	A	116937921	G	A	116937921	3	1	22	1	0	0	0	0	1	0	0	0	17446	1086	38	1	492	1	WNT2	7	116937921	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26	116937921	42200742	8516	10662											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	114					0	0	1	0	0	T	116960776	C	T	116960776	3	4	22	1	0	0	0	0	1	0	0	0	17446	652	23	1	943	1	WNT2	7	116960776	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22855	116960776	42177887	8517	10663											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				33	506					0	0	1	0	0	A	117304863	G	A	117304863	3	1	22	1	0	0	0	0	1	0	0	0	3316	1029	36	2	4183	2	CFTR	7	117304863	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	344087	117304863	41833800	8518	10664											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	361					0	0	1	0	0	A	117361139	G	A	117361139	3	1	22	1	0	0	0	0	1	0	0	0	4069	971	34	2	514	2	CTTNBP2	7	117361139	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56276	117361139	41777524	8519	10665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	584					0	0	1	0	0	G	117368189	A	G	117368189	3	3	22	1	0	0	0	0	1	0	0	0	4069	14	1	3	1010	3	CTTNBP2	7	117368189	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7050	117368189	41770474	8520	10666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	525					0	0	1	0	0	G	117400555	T	G	117400555	3	3	22	1	0	0	0	0	1	0	0	0	4069	1667	58	3	1941	3	CTTNBP2	7	117400555	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32366	117400555	41738108	8521	10667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	239					0	0	1	0	0	A	117417759	G	A	117417759	3	1	22	1	0	0	0	0	1	0	0	0	4069	942	33	2	2471	2	CTTNBP2	7	117417759	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17204	117417759	41720904	8522	10668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	542					0	0	1	0	0	T	117420533	A	T	117420533	3	4	22	1	0	0	0	0	1	0	0	0	4069	69	3	5	2574	5	CTTNBP2	7	117420533	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2774	117420533	41718130	8523	10669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	232					3.86236e-30	4.52529e-30	1	1	0	T	117828431	G	T	117828431	4	4	22	1	0	0	0	0	0	1	0	0	10172	1001	35	2	182	2	NAA38	7	117828431	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	407898	117828431	41310232	8524	10670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	266					0	0	1	0	0	A	119915287	G	A	119915287	3	1	22	1	0	0	0	0	1	0	0	0	8063	1087	38	1	603	1	KCND2	7	119915287	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2086856	119915287	39223376	8525	10671											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	421					0	0	1	0	0	A	119915676	G	A	119915676	2	1	22	1	0	0	0	0	0	0	0	1	8063	1074	38	1		1	KCND2	7	119915676	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	389	119915676	39222987	8526	10672											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													129	670					0	0	1	0	0	C	121568253	A	C	121568253	3	2	22	1	0	0	0	0	1	0	0	0	12866	69	3	3	108	3	PTPRZ1	7	121568253	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1652577	121568253	37570410	8527	10673											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													164	721					0	0	1	0	0	T	121652806	C	T	121652806	2	4	22	1	0	0	0	0	0	0	0	1	12866	796	28	2		2	PTPRZ1	7	121652806	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84553	121652806	37485857	8528	10674											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	295					0	0	1	0	0	G	121659225	T	G	121659225	3	3	22	1	0	0	0	0	1	0	0	0	12866	1722	60	3	4941	3	PTPRZ1	7	121659225	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6419	121659225	37479438	8529	10675											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417368.2_Silent_p.A685A|AASS_ENST00000473553.1_5'UTR			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													34	137					0	0	1	0	0	A	121726195	G	A	121726195	2	1	22	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	8530	10676											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417368.2_Missense_Mutation_p.G521V|AASS_ENST00000473553.1_5'UTR			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													36	135					6.50621e-10	6.87419e-10	1	1	0	A	121738597	C	A	121738597	3	1	22	1	0	0	0	0	1	0	0	0	24	739	26	2	1258	2	AASS	7	121738597	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12402	121738597	37400066	8531	10677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417368.2_Nonsense_Mutation_p.E425*|AASS_ENST00000473553.1_Intron			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													7	171					0.248553	0.24873	1	1	0	A	121753177	C	A	121753177	4	1	22	1	0	0	0	0	0	1	0	0	24	922	32	2	1563	2	AASS	7	121753177	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14580	121753177	37385486	8532	10678											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417368.2_Silent_p.D82D|AASS_ENST00000473553.1_Intron			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													47	238					0	0	1	0	0	G	121769556	A	G	121769556	2	3	22	1	0	0	0	0	0	0	0	1	24	446	16	3		3	AASS	7	121769556	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16379	121769556	37369107	8533	10679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	183					0	0	1	0	0	C	121944232	T	C	121944232	3	2	22	1	0	0	0	0	1	0	0	0	5858	1609	56	3	1183	3	FEZF1	7	121944232	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	174676	121944232	37194431	8534	10680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	357					0	0	1	0	0	C	121944281	T	C	121944281	3	2	22	1	0	0	0	0	1	0	0	0	5858	1435	50	3	1232	3	FEZF1	7	121944281	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49	121944281	37194382	8535	10681											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000412584.2_Missense_Mutation_p.I730T|CADPS2_ENST00000449022.2_Missense_Mutation_p.I733T|CADPS2_ENST00000313070.7_Missense_Mutation_p.I730T	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													22	114					0	0	1	0	0	G	122091518	A	G	122091518	3	3	22	1	0	0	0	0	1	0	0	0	2589	101	4	3	1800	3	CADPS2	7	122091518	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	147237	122091518	37047145	8536	10682											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.N33H|CADPS2_ENST00000313070.7_Intron	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													22	142					0	0	1	0	0	G	122342708	T	G	122342708	3	3	22	1	0	0	0	0	1	0	0	0	13501	1841	64	3	824	3	RNF148	7	122342708	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	251190	122342708	36795955	8537	10683											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	475					0	0	1	0	0	G	122635033	A	G	122635033	3	3	22	1	0	0	0	0	1	0	0	0	15626	217	8	3	223	3	TAS2R16	7	122635033	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	292325	122635033	36503630	8538	10684											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	311					2.17126e-26	2.5019e-26	1	1	0	T	122635261	G	T	122635261	3	4	22	1	0	0	0	0	1	0	0	0	15626	1000	35	2	451	2	TAS2R16	7	122635261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	228	122635261	36503402	8539	10685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	236					0	0	1	0	0	G	122635379	A	G	122635379	3	3	22	1	0	0	0	0	1	0	0	0	15626	188	7	3	569	3	TAS2R16	7	122635379	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	118	122635379	36503284	8540	10686											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	297					0	0	1	0	0	T	122763231	C	T	122763231	4	4	22	1	0	0	0	0	0	1	0	0	14446	624	22	2	504	2	SLC13A1	7	122763231	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127852	122763231	36375432	8541	10687											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	103					0	0	1	0	0	T	122787315	C	T	122787315	3	4	22	1	0	0	0	0	1	0	0	0	14446	536	19	1	1113	1	SLC13A1	7	122787315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24084	122787315	36351348	8542	10688											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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													85	430					0	0	1	0	0	T	123152119	C	T	123152119	2	4	22	1	0	0	0	0	0	0	0	1	7864	755	27	1		1	IQUB	7	123152119	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	364804	123152119	35986544	8543	10689											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451215.1_Missense_Mutation_p.T336I|ASB15_ENST00000434204.1_Missense_Mutation_p.T336I|ASB15_ENST00000540573.1_Missense_Mutation_p.T336I|ASB15_ENST00000275699.3_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													77	411					0	0	1	0	0	T	123269055	C	T	123269055	3	4	22	1	0	0	0	0	1	0	0	0	1018	565	20	2	1033	2	ASB15	7	123269055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116936	123269055	35869608	8544	10690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451215.1_Missense_Mutation_p.A371D|ASB15_ENST00000434204.1_Missense_Mutation_p.A371D|ASB15_ENST00000540573.1_Missense_Mutation_p.A371D|ASB15_ENST00000275699.3_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													14	366					9.31168e-06	9.55451e-06	1	1	0	A	123269160	C	A	123269160	3	1	22	1	0	0	0	0	1	0	0	0	1018	797	28	2	1138	2	ASB15	7	123269160	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105	123269160	35869503	8545	10691											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	369					3.02199e-20	3.38447e-20	1	1	0	A	123332856	C	A	123332856	3	1	22	1	0	0	0	0	1	0	0	0	17316	681	24	2	637	2	WASL	7	123332856	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63696	123332856	35805807	8546	10692											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	395					1.32764e-51	1.64847e-51	1	1	0	T	123508656	G	T	123508656	3	4	22	1	0	0	0	0	1	0	0	0	7510	1174	41	2	331	2	HYAL4	7	123508656	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	175800	123508656	35630007	8547	10693											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	381					0	0	1	0	0	T	123516989	C	T	123516989	3	4	22	1	0	0	0	0	1	0	0	0	7510	739	26	2	1236	2	HYAL4	7	123516989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8333	123516989	35621674	8548	10694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	120					0	0	1	0	0	T	124464052	C	T	124464052	2	4	22	1	0	0	0	0	0	0	0	1	12308	912	32	2		2	POT1	7	124464052	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	947063	124464052	34674611	8549	10695											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	143					0	0	1	0	0	A	124465393	G	A	124465393	3	1	22	1	0	0	0	0	1	0	0	0	12308	1174	41	2	207	2	POT1	7	124465393	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1341	124465393	34673270	8550	10696											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	89					2.39187e-15	2.61288e-15	1	1	0	A	124483018	C	A	124483018	5	1	22	1	0	0	0	0	0	0	1	0	12308	579	20	2	926	2	POT1	7	124483018	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17625	124483018	34655645	8551	10697											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000444921.2_Nonsense_Mutation_p.R194*|GRM8_ENST00000358373.3_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)			62	225					0	0	1	0	0	A	126746697	G	A	126746697	4	1	22	1	0	0	0	0	0	1	0	0	6844	1066	37	1	2232	1	GRM8	7	126746697	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2263679	126746697	32391966	8552	10698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	354					0	0	1	0	0	T	127013819	C	T	127013819	3	4	22	1	0	0	0	0	1	0	0	0	18218	710	25	2	431	2	ZNF800	7	127013819	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	267122	127013819	32124844	8553	10699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	539					1.59803e-59	2.00716e-59	1	1	0	T	127014200	G	T	127014200	3	4	22	1	0	0	0	0	1	0	0	0	18218	1000	35	2	812	2	ZNF800	7	127014200	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	381	127014200	32124463	8554	10700											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	387					0	0	1	0	0	G	127014937	A	G	127014937	2	3	22	1	0	0	0	0	0	0	0	1	18218	446	16	3		3	ZNF800	7	127014937	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	737	127014937	32123726	8555	10701											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	528					6.92432e-61	8.71362e-61	1	1	0	A	127223015	C	A	127223015	3	1	22	1	0	0	0	0	1	0	0	0	6325	826	29	2	950	2	GCC1	7	127223015	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208078	127223015	31915648	8556	10702											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	63	339					0	0	1	0	0	G	127224482	T	G	127224482	3	3	22	1	0	0	0	0	1	0	0	0	6325	1609	56	3	1580	3	GCC1	7	127224482	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1467	127224482	31914181	8557	10703											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	120	550					0	0	1	0	0	T	127224652	C	T	127224652	2	4	22	1	0	0	0	0	0	0	0	1	6325	680	24	2		2	GCC1	7	127224652	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170	127224652	31914011	8558	10704											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	131	608					0	0	1	0	0	T	127225162	C	T	127225162	2	4	22	1	0	0	0	0	0	0	0	1	6325	912	32	2		2	GCC1	7	127225162	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	510	127225162	31913501	8559	10705											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	360					0	0	1	0	0	A	127230185	G	A	127230185	2	1	22	1	0	0	0	0	0	0	0	1	844	933	33	2		2	ARF5	7	127230185	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5023	127230185	31908478	8560	10706											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	343					1.92282e-43	2.34754e-43	1	1	0	A	127235810	C	A	127235810	3	1	22	1	0	0	0	0	1	0	0	0	6104	912	32	2	600	2	FSCN3	7	127235810	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5625	127235810	31902853	8561	10707											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													139	655					0	0	1	0	0	A	127238595	G	A	127238595	3	1	22	1	0	0	0	0	1	0	0	0	6104	1087	38	1	1081	1	FSCN3	7	127238595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2785	127238595	31900068	8562	10708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000338516.3_Missense_Mutation_p.I57V|PAX4_ENST00000378740.2_Missense_Mutation_p.I49V|PAX4_ENST00000463946.1_Missense_Mutation_p.I47V	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													81	369					0	0	1	0	0	C	127255125	T	C	127255125	3	2	22	1	0	0	0	0	1	0	0	0	11528	1435	50	3	918	3	PAX4	7	127255125	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16530	127255125	31883538	8563	10709											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	469					0	0	1	0	0	T	127670198	C	T	127670198	3	4	22	1	0	0	0	0	1	0	0	0	9042	768	27	1	1469	1	LRRC4	7	127670198	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	415073	127670198	31468465	8564	10710											
SND1	27044	broad.mit.edu	37	chr7	127714631	127714631	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgacggtgccaacctgtcCgtcctgctggtggagcacgc	13	14	0	0	rs138799870	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127714631C>T	ENST00000354725.3	+	17	2051	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	619	TNase-like 4.				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						CCAACCTGTCCGTCCTGCTGG	0.617													19	136					0	0	1	0	0	T	127714631	C	T	127714631	2	4	22	1	0	0	0	0	0	0	0	1	14898	639	23	1		1	SND1	7	127714631	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44433	127714631	31424032	8565	10711											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	309					2.47907e-22	2.80423e-22	1	1	0	A	127727023	C	A	127727023	3	1	22	1	0	0	0	0	1	0	0	0	14898	680	24	2	2420	2	SND1	7	127727023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12392	127727023	31411640	8566	10712											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127954833G>A	ENST00000223073.1	-	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	677					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													158	936					0	0	1	0	0	A	127954833	G	A	127954833	4	1	22	1	0	0	0	0	0	1	0	0	13180	1124	39	1	262	1	RBM28	7	127954833	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227810	127954833	31183830	8567	10713											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127970908G>A	ENST00000223073.1	-	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	365	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													71	326					0	0	1	0	0	A	127970908	G	A	127970908	3	1	22	1	0	0	0	0	1	0	0	0	13180	1116	39	1	1226	1	RBM28	7	127970908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16075	127970908	31167755	8568	10714											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127975620C>T	ENST00000223073.1	-	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	308					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													59	234					0	0	1	0	0	T	127975620	C	T	127975620	3	4	22	1	0	0	0	0	1	0	0	0	13180	797	28	2	1404	2	RBM28	7	127975620	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4712	127975620	31163043	8569	10715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127978382C>T	ENST00000223073.1	-	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	155	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													36	225					0	0	1	0	0	T	127978382	C	T	127978382	3	4	22	1	0	0	0	0	1	0	0	0	13180	652	23	1	1876	1	RBM28	7	127978382	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2762	127978382	31160281	8570	10716											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000496200.1_Missense_Mutation_p.D189G|IMPDH1_ENST00000354269.5_Missense_Mutation_p.D289G|IMPDH1_ENST00000470772.1_Missense_Mutation_p.D213G|IMPDH1_ENST00000480861.1_Missense_Mutation_p.D209G|IMPDH1_ENST00000419067.2_Missense_Mutation_p.D266G|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)	87	422					0	0	1	0	0	C	128038646	T	C	128038646	3	2	22	1	0	0	0	0	1	0	0	0	7770	1435	50	3	935	3	IMPDH1	7	128038646	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	60264	128038646	31100017	8571	10717											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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													9	305					0	0	1	0	0	C	128119258	A	C	128119258	3	2	22	1	0	0	0	0	1	0	0	0	9550	11	1	3	259	3	METTL2B	7	128119258	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	80612	128119258	31019405	8572	10718											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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													19	287					0	0	1	0	0	A	128119557	G	A	128119557	3	1	22	1	0	0	0	0	1	0	0	0	9550	1058	37	1	558	1	METTL2B	7	128119557	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299	128119557	31019106	8573	10719											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479257.1_Missense_Mutation_p.D103Y|CALU_ENST00000538546.1_Intron|CALU_ENST00000449187.2_Intron|CALU_ENST00000542996.2_Intron|CALU_ENST00000249364.4_Missense_Mutation_p.D95Y|CALU_ENST00000535011.2_Missense_Mutation_p.D95Y	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													65	333					2.165e-29	2.52906e-29	1	1	0	T	128394377	G	T	128394377	3	4	22	1	0	0	0	0	1	0	0	0	2612	942	33	2	289	2	CALU	7	128394377	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	274820	128394377	30744286	8574	10720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479257.1_Missense_Mutation_p.R249W|CALU_ENST00000538546.1_Missense_Mutation_p.R90W|CALU_ENST00000449187.2_Missense_Mutation_p.R241W|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000249364.4_Missense_Mutation_p.R241W|CALU_ENST00000535011.2_Intron	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													57	285					0	0	1	0	0	T	128407587	C	T	128407587	3	4	22	1	0	0	0	0	1	0	0	0	2612	875	31	1	937	1	CALU	7	128407587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13210	128407587	30731076	8575	10721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	454					4.05715e-38	4.88277e-38	1	1	0	A	128415770	C	A	128415770	3	1	22	1	0	0	0	0	1	0	0	0	10928	564	20	2	991	2	OPN1SW	7	128415770	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8183	128415770	30722893	8576	10722											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000464832.1_Silent_p.S446S|CCDC136_ENST00000378685.4_Silent_p.S434S|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000487361.1_Silent_p.S515S	NM_022742.4	NP_073579.4	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													107	617					0	0	1	0	0	T	128457910	C	T	128457910	2	4	22	1	0	0	0	0	0	0	0	1	2788	668	24	2		2	CCDC136	7	128457910	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42140	128457910	30680753	8577	10723											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	314					0	0	1	0	0	T	128470956	C	T	128470956	3	4	22	1	0	0	0	0	1	0	0	0	5968	768	27	1	267	1	FLNC	7	128470956	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13046	128470956	30667707	8578	10724											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	508					0	0	1	0	0	C	128481264	T	C	128481264	2	2	22	1	0	0	0	0	0	0	0	1	5968	1702	59	3		3	FLNC	7	128481264	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10308	128481264	30657399	8579	10725											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	232					0	0	1	0	0	A	128489453	G	A	128489453	3	1	22	1	0	0	0	0	1	0	0	0	5968	1116	39	1	5138	1	FLNC	7	128489453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8189	128489453	30649210	8580	10726											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	269					0	0	1	0	0	T	128489608	C	T	128489608	2	4	22	1	0	0	0	0	0	0	0	1	5968	845	30	2		2	FLNC	7	128489608	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	128489608	30649055	8581	10727											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	48					0	0	1	0	0	A	128494556	G	A	128494556	3	1	22	1	0	0	0	0	1	0	0	0	5968	1087	38	1	6979	1	FLNC	7	128494556	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4948	128494556	30644107	8582	10728											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	447					0	0	1	0	0	C	128496602	T	C	128496602	3	2	22	1	0	0	0	0	1	0	0	0	5968	1667	58	3	7456	3	FLNC	7	128496602	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2046	128496602	30642061	8583	10729	64	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	402					0	0	1	0	0	T	128496609	C	T	128496609	3	4	22	1	0	0	0	0	1	0	0	0	5968	739	26	2	7463	2	FLNC	7	128496609	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7	128496609	30642054	8584	10730	64	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	204					0	0	1	0	0	T	128505495	C	T	128505495	3	4	22	1	0	0	0	0	1	0	0	0	1183	759	27	1	229	1	ATP6V1F	7	128505495	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8886	128505495	30633168	8585	10731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								18	175					0	0	1	0	0	T	128852143	C	T	128852143	3	4	22	1	0	0	0	0	1	0	0	0	14854	623	22	2	2261	2	SMO	7	128852143	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	346648	128852143	30286520	8586	10732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000490911.1_Missense_Mutation_p.S40F|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S62F|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S142F|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S41F|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S40F	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													35	155					0	0	1	0	0	T	129019543	C	T	129019543	3	4	22	1	0	0	0	0	1	0	0	0	408	913	32	2	556	2	AHCYL2	7	129019543	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167400	129019543	30119120	8587	10733											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000223190.4_Missense_Mutation_p.A467T|NRF1_ENST00000353868.4_Missense_Mutation_p.A401T|NRF1_ENST00000311967.2_Missense_Mutation_p.A486T|NRF1_ENST00000393230.2_Missense_Mutation_p.A467T|NRF1_ENST00000539636.1_Missense_Mutation_p.A306T|NRF1_ENST00000393231.3_Missense_Mutation_p.A486T	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													20	337					0	0	1	0	0	A	129394908	G	A	129394908	3	1	22	1	0	0	0	0	1	0	0	0	10694	1087	38	1	1437	1	NRF1	7	129394908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	375365	129394908	29743755	8588	10734											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360708.5_Missense_Mutation_p.A91T|ZC3HC1_ENST00000481503.1_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													161	611					0	0	1	0	0	T	129680929	C	T	129680929	3	4	22	1	0	0	0	0	1	0	0	0	17636	739	26	2	1269	2	ZC3HC1	7	129680929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286021	129680929	29457734	8589	10735											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	491					0.00448238	0.00451339	1	1	0	A	129929527	C	A	129929527	2	1	22	1	0	0	0	0	0	0	0	1	3813	639	23	4		4	CPA2	7	129929527	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248598	129929527	29209136	8590	10736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355388.3_Missense_Mutation_p.S168N|CPA5_ENST00000393213.3_Missense_Mutation_p.S168N|CPA5_ENST00000461828.1_Missense_Mutation_p.S168N|CPA5_ENST00000431780.2_Missense_Mutation_p.S168N|CPA5_ENST00000466363.2_Missense_Mutation_p.S168N|CPA5_ENST00000474905.1_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													42	223					0	0	1	0	0	A	130001054	G	A	130001054	3	1	22	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	8591	10737											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355388.3_Missense_Mutation_p.A188S|CPA5_ENST00000393213.3_Missense_Mutation_p.A188S|CPA5_ENST00000461828.1_Missense_Mutation_p.A188S|CPA5_ENST00000431780.2_Missense_Mutation_p.A188S|CPA5_ENST00000466363.2_Missense_Mutation_p.A188S|CPA5_ENST00000474905.1_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													10	270					0.000673444	0.000681208	1	1	0	T	130002306	G	T	130002306	3	4	22	1	0	0	0	0	1	0	0	0	3816	971	34	2	584	2	CPA5	7	130002306	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1252	130002306	29136357	8592	10738											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	258					2.23044e-30	2.6157e-30	1	1	0	T	130022008	G	T	130022008	3	4	22	1	0	0	0	0	1	0	0	0	3812	933	33	2	455	2	CPA1	7	130022008	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19702	130022008	29116655	8593	10739											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													317	1287					0	0	1	0	0	A	130027777	G	A	130027777	2	1	22	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	8594	10740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_619638.1	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													14	70					0	0	1	0	0	T	130418143	C	T	130418143	3	4	22	1	0	0	0	0	1	0	0	0	8385	884	31	1	257	1	KLF14	7	130418143	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	390366	130418143	28720520	8595	10741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_619638.1	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													3	37					0	0	1	0	0	T	130418358	C	T	130418358	3	4	22	1	0	0	0	0	1	0	0	0	8385	855	30	2	472	2	KLF14	7	130418358	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	215	130418358	28720305	8596	10742											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.K544N	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													58	286					4.88482e-21	5.49248e-21	1	1	0	T	131151154	G	T	131151154	3	4	22	1	0	0	0	0	1	0	0	0	9651	1020	36	2	1999	2	MKLN1	7	131151154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	732796	131151154	27987509	8597	10743											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537928.1_Missense_Mutation_p.V508I|PODXL_ENST00000378555.3_Missense_Mutation_p.V540I|PODXL_ENST00000322985.9_Missense_Mutation_p.V508I	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													55	282					0	0	1	0	0	T	131189129	C	T	131189129	3	4	22	1	0	0	0	0	1	0	0	0	12228	536	19	1	62	1	PODXL	7	131189129	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37975	131189129	27949534	8598	10744											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537928.1_Silent_p.T470T|PODXL_ENST00000378555.3_Silent_p.T502T|PODXL_ENST00000322985.9_Silent_p.T470T	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													75	402					0	0	1	0	0	C	131189241	T	C	131189241	2	2	22	1	0	0	0	0	0	0	0	1	12228	1567	55	3		3	PODXL	7	131189241	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	112	131189241	27949422	8599	10745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537928.1_Missense_Mutation_p.A57T|PODXL_ENST00000378555.3_Missense_Mutation_p.A57T|PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000322985.9_Missense_Mutation_p.A57T	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													64	368					0	0	1	0	0	T	131196124	C	T	131196124	3	4	22	1	0	0	0	0	1	0	0	0	12228	739	26	2	1539	2	PODXL	7	131196124	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6883	131196124	27942539	8600	10746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	278					0	0	1	0	0	T	131829899	C	T	131829899	3	4	22	1	0	0	0	0	1	0	0	0	12170	768	27	1	496	1	PLXNA4	7	131829899	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	633775	131829899	27308764	8601	10747											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	231					0	0	1	0	0	A	131853310	G	A	131853310	3	1	22	1	0	0	0	0	1	0	0	0	12170	1087	38	1	1689	1	PLXNA4	7	131853310	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23411	131853310	27285353	8602	10748											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	483					3.05759e-45	3.74787e-45	1	1	0	T	131859635	G	T	131859635	3	4	22	1	0	0	0	0	1	0	0	0	12170	991	35	2	1813	2	PLXNA4	7	131859635	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6325	131859635	27279028	8603	10749											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	88					0	0	1	0	0	A	131908351	G	A	131908351	3	1	22	1	0	0	0	0	1	0	0	0	12170	1115	39	1	3748	1	PLXNA4	7	131908351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48716	131908351	27230312	8604	10750											
PLXNA4	91584	broad.mit.edu	37	chr7	132174152	132174152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccctgtcctccgtgaagaCgggaattccacgcaccatgt	10	14	0	2	rs142997259	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132174152C>T	ENST00000359827.3	-	3	2232	c.1270G>A	c.(1270-1272)Gtc>Atc	p.V424I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V424I|PLXNA4_ENST00000378539.5_Missense_Mutation_p.V424I|PLXNA4_ENST00000423507.2_Missense_Mutation_p.V424I			Q9HCM2	PLXA4_HUMAN	plexin A4	424	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						TCCGTGAAGACGGGAATTCCA	0.502													43	172					0	0	1	0	0	T	132174152	C	T	132174152	3	4	22	1	0	0	0	0	1	0	0	0	12170	536	19	1	4848	1	PLXNA4	7	132174152	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	265801	132174152	26964511	8605	10751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000321063.4_Nonsense_Mutation_p.Q135*|PLXNA4_ENST00000378539.5_Nonsense_Mutation_p.Q135*|PLXNA4_ENST00000423507.2_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													38	223					0	0	1	0	0	A	132193050	G	A	132193050	4	1	22	1	0	0	0	0	0	1	0	0	12170	1357	47	2	5719	2	PLXNA4	7	132193050	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18898	132193050	26945613	8606	10752											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000321063.4_Missense_Mutation_p.K116N|PLXNA4_ENST00000378539.5_Missense_Mutation_p.K116N|PLXNA4_ENST00000423507.2_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													50	217					2.56175e-15	2.79687e-15	1	1	0	A	132193105	C	A	132193105	3	1	22	1	0	0	0	0	1	0	0	0	12170	912	32	2	5774	2	PLXNA4	7	132193105	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	132193105	26945558	8607	10753											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	235					0	0	1	0	0	A	132481280	G	A	132481280	3	1	22	1	0	0	0	0	1	0	0	0	3339	1116	39	1	108	1	CHCHD3	7	132481280	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	288175	132481280	26657383	8608	10754											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	217					0	0	1	0	0	A	132959895	G	A	132959895	3	1	22	1	0	0	0	0	1	0	0	0	5333	1087	38	1	251	1	EXOC4	7	132959895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	478615	132959895	26178768	8609	10755											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	232					0	0	1	0	0	C	133933760	A	C	133933760	3	2	22	1	0	0	0	0	1	0	0	0	8988	40	2	3	2200	3	LRGUK	7	133933760	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	973865	133933760	25204903	8610	10756											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	133					0	0	1	0	0	T	133991519	C	T	133991519	3	4	22	1	0	0	0	0	1	0	0	0	14633	710	25	2	828	2	SLC35B4	7	133991519	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57759	133991519	25147144	8611	10757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	175					0	0	1	0	0	C	134133231	T	C	134133231	2	2	22	1	0	0	0	0	0	0	0	1	463	1451	51	3		3	AKR1B1	7	134133231	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	141712	134133231	25005432	8612	10758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	597					3.29933e-67	4.178e-67	1	1	0	T	134133752	G	T	134133752	3	4	22	1	0	0	0	0	1	0	0	0	463	1252	44	2	425	2	AKR1B1	7	134133752	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	521	134133752	25004911	8613	10759											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	353					0	0	1	0	0	A	134252965	G	A	134252965	3	1	22	1	0	0	0	0	1	0	0	0	465	1087	38	1	212	1	AKR1B15	7	134252965	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119213	134252965	24885698	8614	10760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344924.3_Missense_Mutation_p.A94V|BPGM_ENST00000418040.1_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													37	188					0	0	1	0	0	T	134346540	C	T	134346540	3	4	22	1	0	0	0	0	1	0	0	0	1490	739	26	2	283	2	BPGM	7	134346540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93575	134346540	24792123	8615	10761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393118.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000361901.2_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													10	54					1.76689e-08	1.84553e-08	1	1	0	T	134618572	G	T	134618572	3	4	22	1	0	0	0	0	1	0	0	0	2599	1000	35	2	1119	2	CALD1	7	134618572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	272032	134618572	24520091	8616	10762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361675.2_Nonsense_Mutation_p.R611*|CALD1_ENST00000393118.2_Nonsense_Mutation_p.R376*|CALD1_ENST00000495522.1_Nonsense_Mutation_p.R376*|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000417172.1_Nonsense_Mutation_p.R356*|CALD1_ENST00000543443.1_Nonsense_Mutation_p.R361*|CALD1_ENST00000422748.1_Nonsense_Mutation_p.R382*|CALD1_ENST00000424922.1_Nonsense_Mutation_p.R350*|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													12	244					0	0	1	0	0	T	134635161	C	T	134635161	4	4	22	1	0	0	0	0	0	1	0	0	2599	760	27	1	1914	1	CALD1	7	134635161	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16589	134635161	24503502	8617	10763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134849279T>C	ENST00000275767.2	+	2	309	c.86T>C	c.(85-87)tTt>tCt	p.F29S	C7orf49_ENST00000459937.1_Intron	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	29			F -> L (in dbSNP:rs292501).			integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						TGCCTGATGTTTTACGCTCTT	0.562													138	571					0	0	1	0	0	C	134849279	T	C	134849279	3	2	22	1	0	0	0	0	1	0	0	0	16115	1841	64	3	88	3	TMEM140	7	134849279	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	214118	134849279	24289384	8618	10764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	401					2.65591e-33	3.14676e-33	1	1	0	A	134927583	C	A	134927583	2	1	22	1	0	0	0	0	0	0	0	1	15379	610	22	2		2	STRA8	7	134927583	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78304	134927583	24211080	8619	10765											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	240					0.000673444	0.000681208	1	1	0	A	134928112	C	A	134928112	3	1	22	1	0	0	0	0	1	0	0	0	15379	796	28	2	383	2	STRA8	7	134928112	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	529	134928112	24210551	8620	10766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000423368.2_Missense_Mutation_p.L423P|CNOT4_ENST00000541284.1_Missense_Mutation_p.L423P|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000361528.4_Missense_Mutation_p.L420P|CNOT4_ENST00000315544.5_Missense_Mutation_p.L423P|CNOT4_ENST00000451834.1_Missense_Mutation_p.L420P	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													81	393					0	0	1	0	0	G	135079029	A	G	135079029	3	3	22	1	0	0	0	0	1	0	0	0	3644	188	7	3	773	3	CNOT4	7	135079029	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	150917	135079029	24059634	8621	10767											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000423368.2_Silent_p.R342R|CNOT4_ENST00000541284.1_Silent_p.R342R|CNOT4_ENST00000356162.4_Silent_p.R342R|CNOT4_ENST00000414802.1_Silent_p.R342R|CNOT4_ENST00000361528.4_Silent_p.R339R|CNOT4_ENST00000315544.5_Silent_p.R342R|CNOT4_ENST00000451834.1_Silent_p.R339R	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													74	303					0	0	1	0	0	A	135080489	G	A	135080489	2	1	22	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	8622	10768											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000423368.2_Silent_p.L269L|CNOT4_ENST00000541284.1_Silent_p.L269L|CNOT4_ENST00000356162.4_Silent_p.L269L|CNOT4_ENST00000414802.1_Silent_p.L269L|CNOT4_ENST00000361528.4_Silent_p.L269L|CNOT4_ENST00000315544.5_Silent_p.L269L|CNOT4_ENST00000451834.1_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													55	343					0	0	1	0	0	T	135095279	C	T	135095279	2	4	22	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	8623	10769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_055950.1	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													18	338					0	0	1	0	0	A	135261869	G	A	135261869	3	1	22	1	0	0	0	0	1	0	0	0	10807	1087	38	1	659	1	NUP205	7	135261869	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166590	135261869	23876794	8624	10770											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_055950.1	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													73	304					2.18329e-32	2.57781e-32	1	1	0	T	135279294	G	T	135279294	5	4	22	1	0	0	0	0	0	0	1	0	10807	956	33	2	1880	2	NUP205	7	135279294	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17425	135279294	23859369	8625	10771											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_055950.1	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													51	310					0	0	1	0	0	A	135285644	G	A	135285644	2	1	22	1	0	0	0	0	0	0	0	1	10807	991	35	2		2	NUP205	7	135285644	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6350	135285644	23853019	8626	10772											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_055950.1	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													33	323					0	0	1	0	0	T	135292055	C	T	135292055	3	4	22	1	0	0	0	0	1	0	0	0	10807	536	19	1	3217	1	NUP205	7	135292055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6411	135292055	23846608	8627	10773											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	169					0	0	1	0	0	T	135376316	C	T	135376316	3	4	22	1	0	0	0	0	1	0	0	0	14449	710	25	2	602	2	SLC13A4	7	135376316	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84261	135376316	23762347	8628	10774											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402486.3_Missense_Mutation_p.V106I|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.V106I|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.V106I|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.V106I|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.V106I|AC009264.1_ENST00000592183.1_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													117	556					0	0	1	0	0	A	136699928	G	A	136699928	3	1	22	1	0	0	0	0	1	0	0	0	3399	1261	44	2	318	2	CHRM2	7	136699928	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1323612	136699928	22438735	8629	10775											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402486.3_Missense_Mutation_p.A185D|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.A185D|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.A185D|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.A185D|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.A185D|AC009264.1_ENST00000592183.1_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													80	388					1.82278e-21	2.0542e-21	1	1	0	A	136700166	C	A	136700166	3	1	22	1	0	0	0	0	1	0	0	0	3399	797	28	2	556	2	CHRM2	7	136700166	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	238	136700166	22438497	8630	10776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402486.3_Missense_Mutation_p.L312M|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.L312M|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.L312M|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.L312M|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.L312M|AC009264.1_ENST00000592183.1_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													72	329					2.23399e-28	2.59905e-28	1	1	0	A	136700546	C	A	136700546	3	1	22	1	0	0	0	0	1	0	0	0	3399	680	24	2	936	2	CHRM2	7	136700546	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	380	136700546	22438117	8631	10777											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402486.3_Silent_p.C429C|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Silent_p.C429C|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Silent_p.C429C|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Silent_p.C429C|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Silent_p.C429C|AC009264.1_ENST00000592183.1_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													108	502					0	0	1	0	0	C	136700899	T	C	136700899	2	2	22	1	0	0	0	0	0	0	0	1	3399	1731	60	3		3	CHRM2	7	136700899	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	353	136700899	22437764	8632	10778											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137154342C>T	ENST00000453654.1	-	25	2090	c.1551G>A	c.(1549-1551)agG>agA	p.R517R	DGKI_ENST00000424189.2_Silent_p.R820R|DGKI_ENST00000446122.1_Silent_p.R799R|DGKI_ENST00000288490.5_Silent_p.R817R			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	817					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													39	268					0	0	1	0	0	T	137154342	C	T	137154342	2	4	22	1	0	0	0	0	0	0	0	1	4499	622	22	2		2	DGKI	7	137154342	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	453443	137154342	21984321	8633	10779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137269963C>T	ENST00000453654.1	-	14	1194	c.655G>A	c.(655-657)Gta>Ata	p.V219I	DGKI_ENST00000424189.2_Missense_Mutation_p.V519I|DGKI_ENST00000446122.1_Missense_Mutation_p.V519I|DGKI_ENST00000288490.5_Missense_Mutation_p.V519I			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	519					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													84	425					0	0	1	0	0	T	137269963	C	T	137269963	3	4	22	1	0	0	0	0	1	0	0	0	4499	536	19	1	1726	1	DGKI	7	137269963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115621	137269963	21868700	8634	10780											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446122.1_Missense_Mutation_p.Q272H|DGKI_ENST00000453654.1_5'UTR|DGKI_ENST00000288490.5_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													107	489					0	0	1	0	0	G	137308289	T	G	137308289	3	3	22	1	0	0	0	0	1	0	0	0	4499	1838	64	3	2493	3	DGKI	7	137308289	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38326	137308289	21830374	8635	10781											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								19	90					0	0	1	0	0	T	137565290	C	T	137565290	3	4	22	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	8636	10782											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								67	287					0	0	1	0	0	A	137569813	G	A	137569813	3	1	22	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	8637	10783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								16	66					0	0	1	0	0	T	137612945	C	T	137612945	2	4	22	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	8638	10784											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415680.2_Missense_Mutation_p.E426K|TRIM24_ENST00000497516.1_3'UTR			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													78	381					0	0	1	0	0	A	138239457	G	A	138239457	3	1	22	1	0	0	0	0	1	0	0	0	16559	1059	37	1	1310	1	TRIM24	7	138239457	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	626512	138239457	20899206	8639	10785											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415680.2_Missense_Mutation_p.R469W|TRIM24_ENST00000497516.1_3'UTR			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													17	579					0	0	1	0	0	T	138239586	C	T	138239586	3	4	22	1	0	0	0	0	1	0	0	0	16559	527	19	1	1439	1	TRIM24	7	138239586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129	138239586	20899077	8640	10786											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	457					4.1673e-28	4.84001e-28	1	1	0	A	138394541	C	A	138394541	5	1	22	1	0	0	0	0	0	0	1	0	1168	927	32	2	273	2	ATP6V0A4	7	138394541	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154955	138394541	20744122	8641	10787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440172.1_3'UTR|KIAA1549_ENST00000242365.4_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													16	89					0	0	1	0	0	T	138522642	C	T	138522642	2	4	22	1	0	0	0	0	0	0	0	1	16196	783	27	1		1	TMEM213	7	138522642	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128101	138522642	20616021	8642	10788											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								16	84					0	0	1	0	0	A	138529190	G	A	138529190	3	1	22	1	0	0	0	0	1	0	0	0	8286	942	33	2	540	2	KIAA1549	7	138529190	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6548	138529190	20609473	8643	10789											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								15	79					0	0	1	0	0	T	138529203	C	T	138529203	3	4	22	1	0	0	0	0	1	0	0	0	8286	652	23	1	553	1	KIAA1549	7	138529203	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13	138529203	20609460	8644	10790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								45	222					0	0	1	0	0	T	138591671	C	T	138591671	3	4	22	1	0	0	0	0	1	0	0	0	8286	768	27	1	2458	1	KIAA1549	7	138591671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62468	138591671	20546992	8645	10791											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								51	216					0	0	1	0	0	T	138602176	C	T	138602176	2	4	22	1	0	0	0	0	0	0	0	1	8286	523	19	1		1	KIAA1549	7	138602176	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10505	138602176	20536487	8646	10792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								22	87					0	0	1	0	0	T	138602828	C	T	138602828	3	4	22	1	0	0	0	0	1	0	0	0	8286	565	20	2	4384	2	KIAA1549	7	138602828	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	652	138602828	20535835	8647	10793											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								78	333					0	0	1	0	0	T	138603632	C	T	138603632	3	4	22	1	0	0	0	0	1	0	0	0	8286	739	26	2	5188	2	KIAA1549	7	138603632	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	804	138603632	20535031	8648	10794											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								128	729					0	0	1	0	0	T	138603904	C	T	138603904	2	4	22	1	0	0	0	0	0	0	0	1	8286	912	32	2		2	KIAA1549	7	138603904	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	272	138603904	20534759	8649	10795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	223					0	0	1	0	0	A	138711299	G	A	138711299	2	1	22	1	0	0	0	0	0	0	0	1	17635	1079	38	1		1	ZC3HAV1L	7	138711299	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107395	138711299	20427364	8650	10796											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138738249	138738249	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaaactgtcaaaattattCgaacagatagattccacata	6	7	1	2	rs61743965	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138738249C>T	ENST00000242351.5	-	12	2713	c.2397G>A	c.(2395-2397)tcG>tcA	p.S799S	ZC3HAV1_ENST00000464606.1_Silent_p.S921S	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	799	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						CAAAATTATTCGAACAGATAG	0.398													21	433					0	0	1	0	0	T	138738249	C	T	138738249	2	4	22	1	0	0	0	0	0	0	0	1	17634	871	31	1		1	ZC3HAV1	7	138738249	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26950	138738249	20400414	8651	10797											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000464606.1_Silent_p.R750R|ZC3HAV1_ENST00000471652.1_Silent_p.R628R	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													54	251					0	0	1	0	0	T	138749734	C	T	138749734	2	4	22	1	0	0	0	0	0	0	0	1	17634	842	30	2		2	ZC3HAV1	7	138749734	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11485	138749734	20388929	8652	10798											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000464606.1_Silent_p.C219C|ZC3HAV1_ENST00000471652.1_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													55	275					0	0	1	0	0	A	138768566	G	A	138768566	2	1	22	1	0	0	0	0	0	0	0	1	17634	1311	46	2		2	ZC3HAV1	7	138768566	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18832	138768566	20370097	8653	10799											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343187.4_Missense_Mutation_p.E32D|TTC26_ENST00000495038.1_Missense_Mutation_p.E32D|TTC26_ENST00000430935.1_Missense_Mutation_p.E32D|TTC26_ENST00000478836.2_Missense_Mutation_p.E32D|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000474035.2_Missense_Mutation_p.E32D			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													13	288					2.27111e-07	2.35674e-07	1	1	0	T	138819493	G	T	138819493	3	4	22	1	0	0	0	0	1	0	0	0	16756	962	34	2	102	2	TTC26	7	138819493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50927	138819493	20319170	8654	10800											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343187.4_Silent_p.V62V|TTC26_ENST00000495038.1_Silent_p.V93V|TTC26_ENST00000430935.1_Silent_p.V93V|TTC26_ENST00000478836.2_Silent_p.V93V|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000474035.2_Silent_p.V93V			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													68	309					0	0	1	0	0	T	138824680	C	T	138824680	2	4	22	1	0	0	0	0	0	0	0	1	16756	900	32	2		2	TTC26	7	138824680	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5187	138824680	20313983	8655	10801											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138936723C>T	ENST00000288561.8	+	3	583	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	UBN2_ENST00000473989.2_Missense_Mutation_p.R195W	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	195	Pro-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						CCGTAAACACCGGAAGGATCG	0.373													64	365					0	0	1	0	0	T	138936723	C	T	138936723	3	4	22	1	0	0	0	0	1	0	0	0	16954	643	23	1	593	1	UBN2	7	138936723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112043	138936723	20201940	8656	10802											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138936758C>A	ENST00000288561.8	+	3	618	c.369C>A	c.(367-369)ggC>ggA	p.G123G	UBN2_ENST00000473989.2_Silent_p.G206G	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	206	Pro-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						TTGATATAGGCTTTGGCTATG	0.388													69	415					1.25742e-37	1.51121e-37	1	1	0	A	138936758	C	A	138936758	2	1	22	1	0	0	0	0	0	0	0	1	16954	784	28	2		2	UBN2	7	138936758	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	138936758	20201905	8657	10803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138946167C>T	ENST00000288561.8	+	6	1075	c.826C>T	c.(826-828)Cca>Tca	p.P276S	UBN2_ENST00000473989.2_Missense_Mutation_p.P359S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	359	Lys-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						GAATAAACCCCCATGTGCTGC	0.468													61	322					0	0	1	0	0	T	138946167	C	T	138946167	3	4	22	1	0	0	0	0	1	0	0	0	16954	623	22	2	1097	2	UBN2	7	138946167	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9409	138946167	20192496	8658	10804											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138968305G>A	ENST00000288561.8	+	15	2654	c.2405G>A	c.(2404-2406)aGc>aAc	p.S802N	UBN2_ENST00000473989.2_Missense_Mutation_p.S885N	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	885										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													48	420					0	0	1	0	0	A	138968305	G	A	138968305	3	1	22	1	0	0	0	0	1	0	0	0	16954	971	34	2	2712	2	UBN2	7	138968305	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22138	138968305	20170358	8659	10805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138968549T>C	ENST00000288561.8	+	15	2898	c.2649T>C	c.(2647-2649)tgT>tgC	p.C883C	UBN2_ENST00000473989.2_Silent_p.C966C	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	966										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													10	339					0	0	1	0	0	C	138968549	T	C	138968549	2	2	22	1	0	0	0	0	0	0	0	1	16954	1731	60	3		3	UBN2	7	138968549	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	244	138968549	20170114	8660	10806											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138978654G>T	ENST00000288561.8	+	17	3921	c.3672G>T	c.(3670-3672)caG>caT	p.Q1224H	UBN2_ENST00000473989.2_Missense_Mutation_p.Q1307H	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1307	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						AGGGTTTACAGCCAGGAGGAG	0.438													25	178					1.04121e-07	1.08382e-07	1	1	0	T	138978654	G	T	138978654	3	4	22	1	0	0	0	0	1	0	0	0	16954	962	34	2	3987	2	UBN2	7	138978654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10105	138978654	20160009	8661	10807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	71					0	0	1	0	0	T	139168360	C	T	139168360	3	4	22	1	0	0	0	0	1	0	0	0	8465	855	30	2	1220	2	KLRG2	7	139168360	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	189706	139168360	19970303	8662	10808											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	74					0	0	1	0	0	A	139226862	G	A	139226862	2	1	22	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	8663	10809											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000342645.6_Missense_Mutation_p.Q781H|HIPK2_ENST00000428878.2_Missense_Mutation_p.Q754H	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													48	243					1.48734e-19	1.65976e-19	1	1	0	A	139285255	C	A	139285255	3	1	22	1	0	0	0	0	1	0	0	0	7158	796	28	2	1273	2	HIPK2	7	139285255	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58393	139285255	19853408	8664	10810											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000342645.6_Missense_Mutation_p.Q643H|HIPK2_ENST00000428878.2_Missense_Mutation_p.Q616H	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													17	89					2.23348e-06	2.30073e-06	1	1	0	A	139299093	C	A	139299093	3	1	22	1	0	0	0	0	1	0	0	0	7158	912	32	2	1699	2	HIPK2	7	139299093	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13838	139299093	19839570	8665	10811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000342645.6_Missense_Mutation_p.K128Q|HIPK2_ENST00000428878.2_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													23	164					0	0	1	0	0	G	139416452	T	G	139416452	3	3	22	1	0	0	0	0	1	0	0	0	7158	1850	64	3	3270	3	HIPK2	7	139416452	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	117359	139416452	19722211	8666	10812											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000425687.1_Missense_Mutation_p.A127T|TBXAS1_ENST00000458722.1_Missense_Mutation_p.A240T|TBXAS1_ENST00000448866.1_Missense_Mutation_p.A194T|TBXAS1_ENST00000414508.2_Missense_Mutation_p.A195T|TBXAS1_ENST00000416849.2_Missense_Mutation_p.A241T|TBXAS1_ENST00000336425.5_Missense_Mutation_p.A194T|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000436047.2_Missense_Mutation_p.A195T|TBXAS1_ENST00000411653.1_Missense_Mutation_p.A194T	NM_001130966.2	NP_001124438.1	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													126	570					0	0	1	0	0	A	139655298	G	A	139655298	3	1	22	1	0	0	0	0	1	0	0	0	15724	1087	38	1	751	1	TBXAS1	7	139655298	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	238846	139655298	19483365	8667	10813											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	272					0	0	1	0	0	A	139727113	G	A	139727113	4	1	22	1	0	0	0	0	0	1	0	0	11504	1095	38	1	526	1	PARP12	7	139727113	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71815	139727113	19411550	8668	10814											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	180					0	0	1	0	0	A	139829450	G	A	139829450	2	1	22	1	0	0	0	0	0	0	0	1	7992	1103	39	1		1	JHDM1D	7	139829450	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102337	139829450	19309213	8669	10815											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	343					0	0	1	0	0	T	140035278	C	T	140035278	3	4	22	1	0	0	0	0	1	0	0	0	14654	768	27	1	218	1	SLC37A3	7	140035278	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	205828	140035278	19103385	8670	10816											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140051074G>A	ENST00000326232.9	-	9	1084	c.882_splice	c.e9+1	p.P294_splice	SLC37A3_ENST00000429996.2_3'UTR|SLC37A3_ENST00000340308.3_Splice_Site_p.P294_splice|SLC37A3_ENST00000447932.2_Splice_Site_p.P294_splice	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													30	239					0	0	1	0	0	A	140051074	G	A	140051074	5	1	22	1	0	0	0	0	0	0	1	0	14654	1130	39	1	780	1	SLC37A3	7	140051074	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15796	140051074	19087589	8671	10817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356407.3_Missense_Mutation_p.R80H|RAB19_ENST00000537763.1_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													59	314					0	0	1	0	0	A	140111711	G	A	140111711	3	1	22	1	0	0	0	0	1	0	0	0	12956	1087	38	1	245	1	RAB19	7	140111711	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60637	140111711	19026952	8672	10818											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000474576.1_Silent_p.S212S|MKRN1_ENST00000255977.2_Silent_p.S276S|MKRN1_ENST00000437223.2_Silent_p.S10S			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													36	189					0	0	1	0	0	A	140156610	G	A	140156610	3	1	22	1	0	0	0	0	1	0	0	0	9654	1310	46	2	640	2	MKRN1	7	140156610	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44899	140156610	18982053	8673	10819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000492720.1_Silent_p.P242P|DENND2A_ENST00000496613.1_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													13	959					0.00136819	0.0013818	1	1	0	T	140301472	G	T	140301472	2	4	22	1	0	0	0	0	0	0	0	1	4457	987	35	2		2	DENND2A	7	140301472	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144862	140301472	18837191	8674	10820											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000492720.1_Missense_Mutation_p.N30S|DENND2A_ENST00000496613.1_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													69	343					0	0	1	0	0	C	140302109	T	C	140302109	3	2	22	1	0	0	0	0	1	0	0	0	4457	1725	60	3	3012	3	DENND2A	7	140302109	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	637	140302109	18836554	8675	10821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	318					0	0	1	0	0	A	140373894	G	A	140373894	3	1	22	1	0	0	0	0	1	0	0	0	288	1174	41	2	766	2	ADCK2	7	140373894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71785	140373894	18764769	8676	10822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	465					0	0	1	0	0	A	140386814	G	A	140386814	3	1	22	1	0	0	0	0	1	0	0	0	288	1319	46	2	1348	2	ADCK2	7	140386814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12920	140386814	18751849	8677	10823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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													86	431					0	0	1	0	0	T	141416030	C	T	141416030	3	4	22	1	0	0	0	0	1	0	0	0	17405	797	28	2	558	2	WEE2	7	141416030	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1029216	141416030	17722633	8678	10824											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000488785.1_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													111	545					0	0	1	0	0	T	141420796	C	T	141420796	3	4	22	1	0	0	0	0	1	0	0	0	17405	536	19	1	838	1	WEE2	7	141420796	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4766	141420796	17717867	8679	10825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000488785.1_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													53	179					0	0	1	0	0	T	141430103	C	T	141430103	3	4	22	1	0	0	0	0	1	0	0	0	17405	768	27	1	1733	1	WEE2	7	141430103	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9307	141430103	17708560	8680	10826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	1015					0	0	1	0	0	A	141464292	G	A	141464292	3	1	22	1	0	0	0	0	1	0	0	0	15629	1087	38	1	336	1	TAS2R3	7	141464292	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34189	141464292	17674371	8681	10827											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_789787.4	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													50	255					2.65591e-33	3.14676e-33	1	1	0	T	141672855	G	T	141672855	3	4	22	1	0	0	0	0	1	0	0	0	15632	942	33	2	370	2	TAS2R38	7	141672855	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	208563	141672855	17465808	8682	10828											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_789787.4	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													6	196					0	0	1	0	0	C	141673051	T	C	141673051	3	2	22	1	0	0	0	0	1	0	0	0	15632	1406	49	3	566	3	TAS2R38	7	141673051	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	196	141673051	17465612	8683	10829											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142460283C>T	ENST00000486171.1	+	5	515	c.496_splice	c.e5-1	p.A166_splice	PRSS1_ENST00000311737.7_Splice_Site_p.A152_splice			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													56	1483					0	0	1	0	0	T	142460283	C	T	142460283	5	4	22	1	0	0	0	0	0	0	1	0	12664	666	23	1	470	1	PRSS1	7	142460283	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	787232	142460283	16678380	8684	10830											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	349					0	0	1	0	0	T	142460861	C	T	142460861	3	4	22	1	0	0	0	0	1	0	0	0	12664	739	26	2	752	2	PRSS1	7	142460861	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	578	142460861	16677802	8685	10831											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442129.1_Missense_Mutation_p.G572E|EPHB6_ENST00000411471.2_Missense_Mutation_p.G295E	NM_004445.3	NP_004436.2	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													71	303					0	0	1	0	0	A	142564791	G	A	142564791	3	1	22	1	0	0	0	0	1	0	0	0	5206	1232	43	2	1741	2	EPHB6	7	142564791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103930	142564791	16573872	8686	10832											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442129.1_Missense_Mutation_p.F789C|EPHB6_ENST00000411471.2_Missense_Mutation_p.F512C	NM_004445.3	NP_004436.2	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													31	200					0	0	1	0	0	G	142566809	T	G	142566809	3	3	22	1	0	0	0	0	1	0	0	0	5206	1841	64	3	2412	3	EPHB6	7	142566809	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2018	142566809	16571854	8687	10833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_061116.2	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													69	389					0	0	1	0	0	T	142572291	C	T	142572291	3	4	22	1	0	0	0	0	1	0	0	0	16661	768	27	1	792	1	TRPV6	7	142572291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5482	142572291	16566372	8688	10834											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_061116.2	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													56	362					0	0	1	0	0	T	142575012	C	T	142575012	3	4	22	1	0	0	0	0	1	0	0	0	16661	768	27	1	1855	1	TRPV6	7	142575012	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2721	142575012	16563651	8689	10835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	548					0	0	1	0	0	A	142651023	G	A	142651023	2	1	22	1	0	0	0	0	0	0	0	1	8185	1020	36	2		2	KEL	7	142651023	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76011	142651023	16487640	8690	10836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	241					0	0	1	0	0	T	142655466	C	T	142655466	2	4	22	1	0	0	0	0	0	0	0	1	8185	564	20	2		2	KEL	7	142655466	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4443	142655466	16483197	8691	10837											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	249					0	0	1	0	0	T	142920107	C	T	142920107	2	4	22	1	0	0	0	0	0	0	0	1	15635	506	18	2		2	TAS2R40	7	142920107	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	264641	142920107	16218556	8692	10838											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	439					1.04553e-52	1.30113e-52	1	1	0	A	142991359	C	A	142991359	3	1	22	1	0	0	0	0	1	0	0	0	2689	681	24	2	530	2	CASP2	7	142991359	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71252	142991359	16147304	8693	10839											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	466					0	0	1	0	0	A	143001775	G	A	143001775	3	1	22	1	0	0	0	0	1	0	0	0	2689	1087	38	1	1164	1	CASP2	7	143001775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10416	143001775	16136888	8694	10840											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409222.3_Missense_Mutation_p.R310W|FAM131B_ENST00000409578.1_Missense_Mutation_p.R326W|FAM131B_ENST00000443739.2_Missense_Mutation_p.R338W			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													80	925					0	0	1	0	0	A	143053714	G	A	143053714	3	1	22	1	0	0	0	0	1	0	0	0	5471	1115	39	1	74	1	FAM131B	7	143053714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51939	143053714	16084949	8695	10841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000477373.1_Intron|ZYX_ENST00000449423.2_Nonsense_Mutation_p.E54*|ZYX_ENST00000392910.2_5'UTR	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													10	118					9.70103e-10	1.02402e-09	1	1	0	T	143079460	G	T	143079460	4	4	22	1	0	0	0	0	0	1	0	0	18294	1175	41	2	334	2	ZYX	7	143079460	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25746	143079460	16059203	8696	10842	65	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000477373.1_Intron|ZYX_ENST00000449423.2_Silent_p.E56E|ZYX_ENST00000392910.2_5'UTR	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													7	117					0	0	1	0	0	A	143079468	G	A	143079468	2	1	22	1	0	0	0	0	0	0	0	1	18294	933	33	2		2	ZYX	7	143079468	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	143079468	16059195	8697	10843	65	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	372					0	0	1	0	0	T	143085748	C	T	143085748	2	4	22	1	0	0	0	0	0	0	0	1	18294	489	17	2		2	ZYX	7	143085748	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6280	143085748	16052915	8698	10844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	152					8.4185e-14	9.11178e-14	1	1	0	T	143088579	G	T	143088579	3	4	22	1	0	0	0	0	1	0	0	0	5193	942	33	2	32	2	EPHA1	7	143088579	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2831	143088579	16050084	8699	10845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	253					0	0	1	0	0	G	143091949	A	G	143091949	2	3	22	1	0	0	0	0	0	0	0	1	5193	127	5	3		3	EPHA1	7	143091949	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3370	143091949	16046714	8700	10846											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	271					0	0	1	0	0	A	143096798	G	A	143096798	3	1	22	1	0	0	0	0	1	0	0	0	5193	1144	40	1	2209	1	EPHA1	7	143096798	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4849	143096798	16041865	8701	10847											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													227	948					0	0	1	0	0	A	143098600	G	A	143098600	2	1	22	1	0	0	0	0	0	0	0	1	5193	1335	47	2		2	EPHA1	7	143098600	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1802	143098600	16040063	8702	10848											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	730					0	0	1	0	0	A	143140633	G	A	143140633	3	1	22	1	0	0	0	0	1	0	0	0	15642	1261	44	2	90	2	TAS2R60	7	143140633	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42033	143140633	15998030	8703	10849											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	356					0	0	1	0	0	A	143175206	G	A	143175206	3	1	22	1	0	0	0	0	1	0	0	0	15636	1116	39	1	243	1	TAS2R41	7	143175206	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34573	143175206	15963457	8704	10850											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	272					0	0	1	0	0	T	143175313	C	T	143175313	2	4	22	1	0	0	0	0	0	0	0	1	15636	564	20	2		2	TAS2R41	7	143175313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107	143175313	15963350	8705	10851											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													214	1028					0	0	1	0	0	G	143632519	A	G	143632519	3	3	22	1	0	0	0	0	1	0	0	0	11045	43	2	3	196	3	OR2F2	7	143632519	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	457206	143632519	15506144	8706	10852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	332					0	0	1	0	0	C	143657759	A	C	143657759	3	2	22	1	0	0	0	0	1	0	0	0	11044	69	3	3	698	3	OR2F1	7	143657759	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25240	143657759	15480904	8707	10853											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	517					0	0	1	0	0	T	143701395	C	T	143701395	2	4	22	1	0	0	0	0	0	0	0	1	11234	576	20	2		2	OR6B1	7	143701395	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43636	143701395	15437268	8708	10854											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	452					0	0	1	0	0	C	143772016	A	C	143772016	3	2	22	1	0	0	0	0	1	0	0	0	11026	14	1	3	706	3	OR2A25	7	143772016	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	70621	143772016	15366647	8709	10855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	298					9.4991e-31	1.11549e-30	1	1	0	A	143792476	C	A	143792476	2	1	22	1	0	0	0	0	0	0	0	1	11023	668	24	2		2	OR2A12	7	143792476	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20460	143792476	15346187	8710	10856											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	460					0	0	1	0	0	A	143806742	G	A	143806742	3	1	22	1	0	0	0	0	1	0	0	0	11025	1203	42	2	69	2	OR2A2	7	143806742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14266	143806742	15331921	8711	10857											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000478806.1_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													81	1685					0	0	1	0	0	T	143956692	C	T	143956692	2	4	22	1	0	0	0	0	0	0	0	1	11030	564	20	2		2	OR2A7	7	143956692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149950	143956692	15181971	8712	10858											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	953					0	0	1	0	0	T	144060720	C	T	144060720	3	4	22	1	0	0	0	0	1	0	0	0	906	855	30	2	960	2	ARHGEF5	7	144060720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104028	144060720	15077943	8713	10859											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	260					0	0	1	0	0	T	144061097	C	T	144061097	2	4	22	1	0	0	0	0	0	0	0	1	906	610	22	2		2	ARHGEF5	7	144061097	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	377	144061097	15077566	8714	10860											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	669					0	0	1	0	0	A	144068362	G	A	144068362	3	1	22	1	0	0	0	0	1	0	0	0	906	1175	41	2	3658	2	ARHGEF5	7	144068362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7265	144068362	15070301	8715	10861											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000483238.1_Missense_Mutation_p.R315H|NOBOX_ENST00000223140.5_Missense_Mutation_p.R230H	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													65	298					0	0	1	0	0	T	144097306	C	T	144097306	3	4	22	1	0	0	0	0	1	0	0	0	10559	768	27	1	1059	1	NOBOX	7	144097306	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28944	144097306	15041357	8716	10862											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000547966.1_5'UTR|TPK1_ENST00000360057.3_Missense_Mutation_p.A129V|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000538212.2_Intron			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													69	307					0	0	1	0	0	A	144288631	G	A	144288631	3	1	22	1	0	0	0	0	1	0	0	0	16465	971	34	2	357	2	TPK1	7	144288631	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191325	144288631	14850032	8717	10863											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			22	152					0	0	1	0	0	A	146471401	G	A	146471401	3	1	22	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	8718	10864											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			45	223					0	0	1	0	0	A	146536846	G	A	146536846	4	1	22	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	8719	10865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			76	428					0	0	1	0	0	C	147092868	G	C	147092868	3	2	22	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	8720	10866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			77	371					0	0	1	0	0	T	147844744	C	T	147844744	3	4	22	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	8721	10867											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			12	703					0	0	1	0	0	G	147914439	A	G	147914439	3	3	22	1	0	0	0	0	1	0	0	0	3670	43	2	3	3144	3	CNTNAP2	7	147914439	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69695	147914439	11224224	8722	10868											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148311388C>T	ENST00000307003.2	+	2	820	c.459_splice	c.e2+1	p.N153_splice		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													30	350					0	0	1	0	0	T	148311388	C	T	148311388	5	4	22	1	0	0	0	0	0	0	1	0	2404	550	19	1	465	1	C7orf33	7	148311388	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	396949	148311388	10827275	8723	10869											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000602748.1_Missense_Mutation_p.D112N|CUL1_ENST00000409469.1_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													87	338					0	0	1	0	0	A	148454093	G	A	148454093	3	1	22	1	0	0	0	0	1	0	0	0	4077	1174	41	2	344	2	CUL1	7	148454093	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	142705	148454093	10684570	8724	10870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000350995.2_Missense_Mutation_p.R614I|EZH2_ENST00000478654.1_Missense_Mutation_p.R602I|EZH2_ENST00000476773.1_Missense_Mutation_p.R602I|EZH2_ENST00000460911.1_Missense_Mutation_p.R653I|EZH2_ENST00000541220.1_Missense_Mutation_p.R602I|EZH2_ENST00000483967.1_Missense_Mutation_p.R644I	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								40	207					2.95478e-19	3.29235e-19	1	1	0	A	148507481	C	A	148507481	3	1	22	1	0	0	0	0	1	0	0	0	5362	913	32	2	298	2	EZH2	7	148507481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53388	148507481	10631182	8725	10871											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000350995.2_Missense_Mutation_p.V538A|EZH2_ENST00000478654.1_Missense_Mutation_p.V526A|EZH2_ENST00000476773.1_Missense_Mutation_p.V526A|EZH2_ENST00000460911.1_Missense_Mutation_p.V577A|EZH2_ENST00000541220.1_Missense_Mutation_p.V526A|EZH2_ENST00000483967.1_Missense_Mutation_p.V568A	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								44	572					0	0	1	0	0	G	148511157	A	G	148511157	3	3	22	1	0	0	0	0	1	0	0	0	5362	275	10	3	534	3	EZH2	7	148511157	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3676	148511157	10627506	8726	10872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000350995.2_Missense_Mutation_p.A198S|EZH2_ENST00000478654.1_Missense_Mutation_p.A228S|EZH2_ENST00000476773.1_Missense_Mutation_p.A228S|EZH2_ENST00000536783.1_Missense_Mutation_p.A128S|EZH2_ENST00000460911.1_Missense_Mutation_p.A237S|EZH2_ENST00000541220.1_Missense_Mutation_p.A228S|EZH2_ENST00000483967.1_Missense_Mutation_p.A228S	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								56	682					2.23044e-30	2.6157e-30	1	1	0	A	148524275	C	A	148524275	3	1	22	1	0	0	0	0	1	0	0	0	5362	797	28	2	1602	2	EZH2	7	148524275	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13118	148524275	10614388	8727	10873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	174	673					0	0	1	0	0	T	148702352	C	T	148702352	3	4	22	1	0	0	0	0	1	0	0	0	11717	797	28	2	542	2	PDIA4	7	148702352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178077	148702352	10436311	8728	10874											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	118					0	0	1	0	0	A	148718166	G	A	148718166	2	1	22	1	0	0	0	0	0	0	0	1	11717	1136	40	1		1	PDIA4	7	148718166	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15814	148718166	10420497	8729	10875											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	120					0	0	1	0	0	A	148768238	G	A	148768238	2	1	22	1	0	0	0	0	0	0	0	1	18207	1079	38	1		1	ZNF786	7	148768238	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50072	148768238	10370425	8730	10876											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	472					1.17962e-10	1.2527e-10	1	1	0	A	148800888	C	A	148800888	3	1	22	1	0	0	0	0	1	0	0	0	17956	681	24	2	187	2	ZNF425	7	148800888	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32650	148800888	10337775	8731	10877											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	296					5.73332e-34	6.80828e-34	1	1	0	A	148801223	C	A	148801223	3	1	22	1	0	0	0	0	1	0	0	0	17956	796	28	2	522	2	ZNF425	7	148801223	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	335	148801223	10337440	8732	10878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	290					0	0	1	0	0	A	148801589	G	A	148801589	2	1	22	1	0	0	0	0	0	0	0	1	17956	1074	38	1		1	ZNF425	7	148801589	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	366	148801589	10337074	8733	10879	66	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	291					0	0	1	0	0	C	148801594	T	C	148801594	3	2	22	1	0	0	0	0	1	0	0	0	17956	1464	51	3	893	3	ZNF425	7	148801594	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5	148801594	10337069	8734	10880	66	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	242					0	0	1	0	0	A	148801988	G	A	148801988	2	1	22	1	0	0	0	0	0	0	0	1	17956	1078	38	1		1	ZNF425	7	148801988	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	394	148801988	10336675	8735	10881											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000335901.4_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.E16A|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000491174.1_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													75	376					0	0	1	0	0	C	148851044	A	C	148851044	3	2	22	1	0	0	0	0	1	0	0	0	17942	246	9	3	38	3	ZNF398	7	148851044	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49056	148851044	10287619	8736	10882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000335901.4_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.R128M|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000491174.1_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													74	404					1.7488e-33	2.07287e-33	1	1	0	T	148851380	G	T	148851380	3	4	22	1	0	0	0	0	1	0	0	0	17942	1000	35	2	374	2	ZNF398	7	148851380	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	336	148851380	10287283	8737	10883											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	41					0	0	1	0	0	A	148921240	G	A	148921240	3	1	22	1	0	0	0	0	1	0	0	0	17877	1116	39	1	1547	1	ZNF282	7	148921240	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69860	148921240	10217423	8738	10884											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	155					0	0	1	0	0	T	148921304	C	T	148921304	2	4	22	1	0	0	0	0	0	0	0	1	17877	883	31	1		1	ZNF282	7	148921304	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64	148921304	10217359	8739	10885											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	116					8.4185e-14	9.11178e-14	1	1	0	T	148951066	G	T	148951066	4	4	22	1	0	0	0	0	0	1	0	0	17826	943	33	2	1066	2	ZNF212	7	148951066	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29762	148951066	10187597	8740	10886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	154					0	0	1	0	0	A	149128930	G	A	149128930	2	1	22	1	0	0	0	0	0	0	0	1	18199	1079	38	1		1	ZNF777	7	149128930	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177864	149128930	10009733	8741	10887											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	139					0	0	1	0	0	A	149129742	G	A	149129742	3	1	22	1	0	0	0	0	1	0	0	0	18199	1087	38	1	878	1	ZNF777	7	149129742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	812	149129742	10008921	8742	10888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Missense_Mutation_p.H181Y	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													13	52					0	0	1	0	0	T	149419587	C	T	149419587	3	4	22	1	0	0	0	0	1	0	0	0	8482	594	21	2	559	2	KRBA1	7	149419587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	289845	149419587	9719076	8743	10889											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	99					0	0	1	0	0	T	149462850	C	T	149462850	2	4	22	1	0	0	0	0	0	0	0	1	17984	639	23	1		1	ZNF467	7	149462850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43263	149462850	9675813	8744	10890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	198					0	0	1	0	0	T	149467528	C	T	149467528	5	4	22	1	0	0	0	0	0	0	1	0	17984	521	18	2	1647	2	ZNF467	7	149467528	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4678	149467528	9671135	8745	10891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	46					5.16669e-11	5.49905e-11	1	1	0	T	149473515	G	T	149473515	1	4	22	0	1	0	0	0	0	0	0	0	15245	971	34	2		2	SSPO	7	149473515	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5987	149473515	9665148	8746	10892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	45					0	0	1	0	0	A	149473530	G	A	149473530	1	1	22	0	1	0	0	0	0	0	0	0	15245	971	34	2		2	SSPO	7	149473530	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	149473530	9665133	8747	10893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	115					0	0	1	0	0	G	149477527	A	G	149477527	1	3	22	0	1	0	0	0	0	0	0	0	15245	449	16	3		3	SSPO	7	149477527	RNA	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3997	149477527	9661136	8748	10894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	161					3.86212e-05	3.93988e-05	1	1	0	T	149479934	G	T	149479934	1	4	22	0	1	0	0	0	0	0	0	0	15245	1014	35	2		2	SSPO	7	149479934	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2407	149479934	9658729	8749	10895											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	116					0	0	1	0	0	T	149481008	C	T	149481008	1	4	22	0	1	0	0	0	0	0	0	0	15245	726	26	2		2	SSPO	7	149481008	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1074	149481008	9657655	8750	10896											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	54					7.48243e-07	7.73841e-07	1	1	0	T	149482714	G	T	149482714	1	4	22	0	1	0	0	0	0	0	0	0	15245	1203	42	2		2	SSPO	7	149482714	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1706	149482714	9655949	8751	10897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	47					0	0	1	0	0	C	149489462	T	C	149489462	1	2	22	0	1	0	0	0	0	0	0	0	15245	1696	59	3		3	SSPO	7	149489462	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6748	149489462	9649201	8752	10898											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	96					0	0	1	0	0	T	149490411	C	T	149490411	1	4	22	0	1	0	0	0	0	0	0	0	15245	739	26	2		2	SSPO	7	149490411	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	949	149490411	9648252	8753	10899											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	132					0	0	1	0	0	A	149499027	G	A	149499027	1	1	22	0	1	0	0	0	0	0	0	0	15245	1103	39	1		1	SSPO	7	149499027	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8616	149499027	9639636	8754	10900											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	209					0	0	1	0	0	A	149509003	G	A	149509003	1	1	22	0	1	0	0	0	0	0	0	0	15245	962	34	2		2	SSPO	7	149509003	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9976	149509003	9629660	8755	10901											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	169					1.00776e-21	1.13667e-21	1	1	0	T	149514988	G	T	149514988	1	4	22	0	1	0	0	0	0	0	0	0	15245	985	34	2		2	SSPO	7	149514988	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5985	149514988	9623675	8756	10902											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	191					0	0	1	0	0	A	149515002	G	A	149515002	1	1	22	0	1	0	0	0	0	0	0	0	15245	1116	39	1		1	SSPO	7	149515002	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14	149515002	9623661	8757	10903											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	338					0	0	1	0	0	G	149520498	T	G	149520498	1	3	22	0	1	0	0	0	0	0	0	0	15245	1551	54	3		3	SSPO	7	149520498	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5496	149520498	9618165	8758	10904											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	212					0	0	1	0	0	A	149545235	G	A	149545235	3	1	22	1	0	0	0	0	1	0	0	0	18238	1116	39	1	667	1	ZNF862	7	149545235	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24737	149545235	9593428	8759	10905											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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		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													99	604					3.36245e-48	4.14781e-48	1	1	0	T	149559064	G	T	149559064	3	4	22	1	0	0	0	0	1	0	0	0	18238	942	33	2	2841	2	ZNF862	7	149559064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13829	149559064	9579599	8760	10906											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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		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													40	239					0	0	1	0	0	C	149559262	T	C	149559262	3	2	22	1	0	0	0	0	1	0	0	0	18238	1725	60	3	3039	3	ZNF862	7	149559262	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	198	149559262	9579401	8761	10907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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		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													32	130					0	0	1	0	0	T	149559356	C	T	149559356	3	4	22	1	0	0	0	0	1	0	0	0	18238	507	18	2	3133	2	ZNF862	7	149559356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94	149559356	9579307	8762	10908											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000466559.1_3'UTR|REPIN1_ENST00000425389.2_Missense_Mutation_p.K196N|REPIN1_ENST00000489432.2_Missense_Mutation_p.K253N|REPIN1_ENST00000540729.1_Missense_Mutation_p.K196N|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Missense_Mutation_p.K196N|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													7	102					2.0095e-06	2.07161e-06	1	1	0	T	150068918	G	T	150068918	3	4	22	1	0	0	0	0	1	0	0	0	13279	962	34	2	765	2	REPIN1	7	150068918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	509562	150068918	9069745	8763	10909											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000466559.1_3'UTR|REPIN1_ENST00000425389.2_Missense_Mutation_p.L204M|REPIN1_ENST00000489432.2_Missense_Mutation_p.L261M|REPIN1_ENST00000540729.1_Missense_Mutation_p.L204M|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Missense_Mutation_p.L204M|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													21	77					1.01871e-10	1.082e-10	1	1	0	A	150068940	C	A	150068940	3	1	22	1	0	0	0	0	1	0	0	0	13279	680	24	2	787	2	REPIN1	7	150068940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	150068940	9069723	8764	10910											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000489432.2_Missense_Mutation_p.A599T|REPIN1_ENST00000540729.1_Missense_Mutation_p.A542T|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Missense_Mutation_p.A542T	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													48	216					0	0	1	0	0	A	150069954	G	A	150069954	3	1	22	1	0	0	0	0	1	0	0	0	13279	1087	38	1	1801	1	REPIN1	7	150069954	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1014	150069954	9068709	8765	10911											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	104					0	0	1	0	0	T	150094568	C	T	150094568	2	4	22	1	0	0	0	0	0	0	0	1	18197	755	27	1		1	ZNF775	7	150094568	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24614	150094568	9044095	8766	10912											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	42					1.12685e-05	1.15515e-05	1	1	0	T	150094613	G	T	150094613	3	4	22	1	0	0	0	0	1	0	0	0	18197	933	33	2	1050	2	ZNF775	7	150094613	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	150094613	9044050	8767	10913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	445					0	0	1	0	0	A	150171653	G	A	150171653	2	1	22	1	0	0	0	0	0	0	0	1	6427	1103	39	1		1	GIMAP8	7	150171653	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77040	150171653	8967010	8768	10914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	499					0	0	1	0	0	A	150174701	G	A	150174701	3	1	22	1	0	0	0	0	1	0	0	0	6427	1175	41	2	1845	2	GIMAP8	7	150174701	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3048	150174701	8963962	8769	10915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	352					0	0	1	0	0	A	150270098	G	A	150270098	3	1	22	1	0	0	0	0	1	0	0	0	6423	971	34	2	946	2	GIMAP4	7	150270098	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95397	150270098	8868565	8770	10916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													164	672					1.69274e-77	2.16115e-77	1	1	0	A	150417218	C	A	150417218	2	1	22	1	0	0	0	0	0	0	0	1	6421	581	21	2		2	GIMAP1	7	150417218	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147120	150417218	8721445	8771	10917											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	149					0	0	1	0	0	A	150417696	G	A	150417696	3	1	22	1	0	0	0	0	1	0	0	0	6421	1175	41	2	610	2	GIMAP1	7	150417696	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	478	150417696	8720967	8772	10918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	276					0	0	1	0	0	G	150440033	A	G	150440033	3	3	22	1	0	0	0	0	1	0	0	0	6424	391	14	3	812	3	GIMAP5	7	150440033	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22337	150440033	8698630	8773	10919											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000262186.5_Missense_Mutation_p.V549M|KCNH2_ENST00000330883.4_Missense_Mutation_p.V209M|KCNH2_ENST00000430723.3_Missense_Mutation_p.V549M			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													47	223					0	0	1	0	0	T	150648836	C	T	150648836	3	4	22	1	0	0	0	0	1	0	0	0	8076	536	19	1	2139	1	KCNH2	7	150648836	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208803	150648836	8489827	8774	10920	67	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000262186.5_Missense_Mutation_p.A547T|KCNH2_ENST00000330883.4_Missense_Mutation_p.A207T|KCNH2_ENST00000430723.3_Missense_Mutation_p.A547T			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													45	209					0	0	1	0	0	T	150648842	C	T	150648842	3	4	22	1	0	0	0	0	1	0	0	0	8076	768	27	1	2145	1	KCNH2	7	150648842	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6	150648842	8489821	8775	10921	67	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461406.1_5'UTR|NOS3_ENST00000484524.1_Missense_Mutation_p.R70C|NOS3_ENST00000467517.1_Missense_Mutation_p.R70C	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													19	156					0	0	1	0	0	T	150692340	C	T	150692340	3	4	22	1	0	0	0	0	1	0	0	0	10591	884	31	1	214	1	NOS3	7	150692340	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43498	150692340	8446323	8776	10922											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461406.1_Missense_Mutation_p.V62M|NOS3_ENST00000484524.1_Missense_Mutation_p.V268M|NOS3_ENST00000467517.1_Missense_Mutation_p.V268M	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													9	67					0	0	1	0	0	A	150695754	G	A	150695754	3	1	22	1	0	0	0	0	1	0	0	0	10591	1145	40	1	824	1	NOS3	7	150695754	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3414	150695754	8442909	8777	10923											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461406.1_Missense_Mutation_p.L140M|NOS3_ENST00000484524.1_Missense_Mutation_p.L346M|NOS3_ENST00000467517.1_Missense_Mutation_p.L346M	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													102	670					2.68873e-43	3.28104e-43	1	1	0	A	150696357	C	A	150696357	3	1	22	1	0	0	0	0	1	0	0	0	10591	680	24	2	1066	2	NOS3	7	150696357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	603	150696357	8442306	8778	10924											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461406.1_Silent_p.G149G|NOS3_ENST00000484524.1_Silent_p.G355G|NOS3_ENST00000467517.1_Silent_p.G355G	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													111	696					0	0	1	0	0	T	150696386	C	T	150696386	2	4	22	1	0	0	0	0	0	0	0	1	10591	784	28	2		2	NOS3	7	150696386	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29	150696386	8442277	8779	10925											
NOS3	4846	broad.mit.edu	37	chr7	150698397	150698398	+	Frame_Shift_Ins	INS	-	-	G													ggagaatgagcagaaggccaINSgggggggctgccctgcagac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150698397_150698398insG	ENST00000297494.3	+	11	1669_1670	c.1312_1313insG	c.(1312-1314)gggfs	p.G438fs	NOS3_ENST00000484524.1_Frame_Shift_Ins_p.G438fs|NOS3_ENST00000467517.1_Frame_Shift_Ins_p.G438fs|NOS3_ENST00000461406.1_Frame_Shift_Ins_p.G232fs	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	438	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)	GCAGAAGGCCAGGGGGGGCTGC	0.614													85	464	---	---	---	---						G	150698398	-	G	150698397	7	5	22	1	0	1	1	0	0	0	0	0	10591	179	7	0	1350	0	NOS3	7	150698397	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	2011	150698397	8440266	8780	10926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461406.1_Silent_p.T289T|NOS3_ENST00000484524.1_Silent_p.T495T|NOS3_ENST00000467517.1_Silent_p.T495T	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													204	1122					3.53585e-47	4.35019e-47	1	1	0	A	150698688	C	A	150698688	2	1	22	1	0	0	0	0	0	0	0	1	10591	668	24	2		2	NOS3	7	150698688	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	291	150698688	8439975	8781	10927											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	187					2.77807e-22	3.14147e-22	1	1	0	T	150704352	G	T	150704352	3	4	22	1	0	0	0	0	1	0	0	0	10591	991	35	2	2444	2	NOS3	7	150704352	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5664	150704352	8434311	8782	10928											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461406.1_Missense_Mutation_p.Q832H|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	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)	94	434					1.69331e-39	2.04788e-39	1	1	0	T	150710326	G	T	150710326	3	4	22	1	0	0	0	0	1	0	0	0	10591	962	34	2	3490	2	NOS3	7	150710326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5974	150710326	8428337	8783	10929											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000482571.1_Intron|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000353841.2_Silent_p.L86L|FASTK_ENST00000489884.1_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													37	151					0	0	1	0	0	T	150775933	C	T	150775933	2	4	22	1	0	0	0	0	0	0	0	1	5717	581	21	2		2	FASTK	7	150775933	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65607	150775933	8362730	8784	10930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000482571.1_Silent_p.Q59Q|FASTK_ENST00000353841.2_Intron|FASTK_ENST00000297532.6_Silent_p.Q59Q|FASTK_ENST00000489884.1_Intron			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													17	50					0	0	1	0	0	T	150776915	C	T	150776915	2	4	22	1	0	0	0	0	0	0	0	1	5717	796	28	2		2	FASTK	7	150776915	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	982	150776915	8361748	8785	10931											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	54					0	0	1	0	0	T	150837093	C	T	150837093	3	4	22	1	0	0	0	0	1	0	0	0	368	855	30	2	1811	2	AGAP3	7	150837093	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60178	150837093	8301570	8786	10932											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	1431					0	0	1	0	0	T	150839253	C	T	150839253	4	4	22	1	0	0	0	0	0	1	0	0	368	876	31	1	2088	1	AGAP3	7	150839253	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2160	150839253	8299410	8787	10933											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	370					0	0	1	0	0	G	150840658	T	G	150840658	3	3	22	1	0	0	0	0	1	0	0	0	368	1725	60	3	2637	3	AGAP3	7	150840658	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1405	150840658	8298005	8788	10934											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													310	1274					5.60145e-70	7.11217e-70	1	1	0	A	150846225	C	A	150846225	3	1	22	1	0	0	0	0	1	0	0	0	6320	680	24	2	551	2	GBX1	7	150846225	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5567	150846225	8292438	8789	10935											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	207					0	0	1	0	0	A	150864194	G	A	150864194	2	1	22	1	0	0	0	0	0	0	0	1	6320	962	34	2		2	GBX1	7	150864194	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17969	150864194	8274469	8790	10936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420175.2_Missense_Mutation_p.V465M|ASB10_ENST00000434669.1_Missense_Mutation_p.V472M|ASB10_ENST00000275838.1_Missense_Mutation_p.V427M|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													42	190					0	0	1	0	0	T	150873210	C	T	150873210	3	4	22	1	0	0	0	0	1	0	0	0	1013	536	19	1	14	1	ASB10	7	150873210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9016	150873210	8265453	8791	10937											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420175.2_Missense_Mutation_p.R210Q|ASB10_ENST00000434669.1_Missense_Mutation_p.R255Q|ASB10_ENST00000275838.1_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													42	177					0	0	1	0	0	T	150878501	C	T	150878501	3	4	22	1	0	0	0	0	1	0	0	0	1013	652	23	1	786	1	ASB10	7	150878501	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5291	150878501	8260162	8792	10938											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420175.2_Silent_p.E15E|ASB10_ENST00000434669.1_Silent_p.E60E|ASB10_ENST00000275838.1_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													13	59					0	0	1	0	0	T	150884173	C	T	150884173	2	4	22	1	0	0	0	0	0	0	0	1	1013	796	28	2		2	ASB10	7	150884173	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5672	150884173	8254490	8793	10939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	393					0	0	1	0	0	T	150931242	C	T	150931242	4	4	22	1	0	0	0	0	0	1	0	0	3391	760	27	1	147	1	CHPF2	7	150931242	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47069	150931242	8207421	8794	10940											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	91					0	0	1	0	0	T	150935457	C	T	150935457	3	4	22	1	0	0	0	0	1	0	0	0	3391	768	27	1	2023	1	CHPF2	7	150935457	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4215	150935457	8203206	8795	10941											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356800.2_Missense_Mutation_p.R457C|SMARCD3_ENST00000262188.8_Missense_Mutation_p.R470C	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													112	510					0	0	1	0	0	A	150936233	G	A	150936233	3	1	22	1	0	0	0	0	1	0	0	0	14833	1087	38	1	47	1	SMARCD3	7	150936233	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	776	150936233	8202430	8796	10942											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000477459.1_Missense_Mutation_p.R129H|WDR86_ENST00000334493.6_Silent_p.A302A			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													17	91					0	0	1	0	0	T	151079024	C	T	151079024	3	4	22	1	0	0	0	0	1	0	0	0	17394	755	27	1	232	1	WDR86	7	151079024	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142791	151079024	8059639	8797	10943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_198285.2	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													11	111					0.00829132	0.00834067	1	1	0	A	151097270	C	A	151097270	3	1	22	1	0	0	0	0	1	0	0	0	17394	797	28	2	929	2	WDR86	7	151097270	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18246	151097270	8041393	8798	10944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461529.1_5'UTR|PRKAG2_ENST00000392801.2_Silent_p.S135S|PRKAG2_ENST00000492843.1_Silent_p.S55S|PRKAG2_ENST00000433631.2_Silent_p.S55S	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													10	534					0	0	1	0	0	A	151372653	G	A	151372653	2	1	22	1	0	0	0	0	0	0	0	1	12553	987	35	2		2	PRKAG2	7	151372653	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275383	151372653	7766010	8799	10945											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	205					6.00712e-18	6.65163e-18	1	1	0	T	151668056	G	T	151668056	4	4	22	1	0	0	0	0	0	1	0	0	6264	943	33	2	280	2	GALNTL5	7	151668056	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	295403	151668056	7470607	8800	10946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_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													6	52					0	0	1	0	0	T	154379458	C	T	154379458	2	4	22	1	0	0	0	0	0	0	0	1	4756	812	28	2		2	DPP6	7	154379458	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2711402	154379458	4759205	8801	10947											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332007.3_Missense_Mutation_p.R448W|DPP6_ENST00000427557.1_Missense_Mutation_p.R403W|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													8	33					0	0	1	0	0	T	154596655	C	T	154596655	3	4	22	1	0	0	0	0	1	0	0	0	4756	875	31	1	1702	1	DPP6	7	154596655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217197	154596655	4542008	8802	10948											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	54					0	0	1	0	0	G	154767875	T	G	154767875	3	3	22	1	0	0	0	0	1	0	0	0	11534	1783	62	3	2668	3	PAXIP1	7	154767875	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	171220	154767875	4370788	8803	10949											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_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													52	191					0	0	1	0	0	A	154863025	G	A	154863025	3	1	22	1	0	0	0	0	1	0	0	0	7494	1087	38	1	418	1	HTR5A	7	154863025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95150	154863025	4275638	8804	10950											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_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													22	273					0	0	1	0	0	A	154863096	G	A	154863096	3	1	22	1	0	0	0	0	1	0	0	0	7494	1087	38	1	489	1	HTR5A	7	154863096	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71	154863096	4275567	8805	10951											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_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													32	175					0	0	1	0	0	T	154863212	C	T	154863212	2	4	22	1	0	0	0	0	0	0	0	1	7494	639	23	1		1	HTR5A	7	154863212	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116	154863212	4275451	8806	10952											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	205					0	0	1	0	0	T	154863276	A	T	154863276	3	4	22	1	0	0	0	0	1	0	0	0	7494	333	12	5	669	5	HTR5A	7	154863276	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	64	154863276	4275387	8807	10953											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													138	563					2.23197e-56	2.79295e-56	1	1	0	T	155093360	G	T	155093360	3	4	22	1	0	0	0	0	1	0	0	0	7809	1087	38	4	503	4	INSIG1	7	155093360	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230084	155093360	4045303	8808	10954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	325					0	0	1	0	0	G	155301652	T	G	155301652	3	3	22	1	0	0	0	0	1	0	0	0	3650	1838	64	3	209	3	CNPY1	7	155301652	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	208292	155301652	3837011	8809	10955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	204					0	0	1	0	0	T	155504066	C	T	155504066	3	4	22	1	0	0	0	0	1	0	0	0	13182	507	18	2	1148	2	RBM33	7	155504066	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202414	155504066	3634597	8810	10956											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	71					0	0	1	0	0	A	155556568	G	A	155556568	2	1	22	1	0	0	0	0	0	0	0	1	13182	1103	39	1		1	RBM33	7	155556568	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52502	155556568	3582095	8811	10957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	146					0	0	1	0	0	T	155559212	C	T	155559212	3	4	22	1	0	0	0	0	1	0	0	0	13182	768	27	1	3300	1	RBM33	7	155559212	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2644	155559212	3579451	8812	10958											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000311822.8_Missense_Mutation_p.N241T|AC005534.9_ENST00000430825.1_RNA|RNF32_ENST00000343665.4_Missense_Mutation_p.N217T|RNF32_ENST00000432459.2_Missense_Mutation_p.N241T|RNF32_ENST00000317955.5_Missense_Mutation_p.N241T|RNF32_ENST00000392743.2_Missense_Mutation_p.N241T			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													84	443					0	0	1	0	0	C	156468427	A	C	156468427	3	2	22	1	0	0	0	0	1	0	0	0	13540	43	2	3	748	3	RNF32	7	156468427	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	909215	156468427	2670236	8813	10959											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000311822.8_Silent_p.I251I|AC005534.9_ENST00000430825.1_RNA|RNF32_ENST00000343665.4_Silent_p.I227I|RNF32_ENST00000432459.2_Silent_p.I251I|RNF32_ENST00000317955.5_Silent_p.I251I|RNF32_ENST00000392743.2_Silent_p.I251I			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													99	512					0	0	1	0	0	T	156468458	C	T	156468458	2	4	22	1	0	0	0	0	0	0	0	1	13540	874	31	1		1	RNF32	7	156468458	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	156468458	2670205	8814	10960											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156555863C>T	ENST00000353442.4	-	7	794	c.558G>A	c.(556-558)tgG>tgA	p.W186*	LMBR1_ENST00000354505.4_Nonsense_Mutation_p.W186*|LMBR1_ENST00000540390.1_Nonsense_Mutation_p.W165*|LMBR1_ENST00000359422.4_Nonsense_Mutation_p.W34*	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	186						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													16	139					0	0	1	0	0	T	156555863	C	T	156555863	4	4	22	1	0	0	0	0	0	1	0	0	8881	624	22	2	958	2	LMBR1	7	156555863	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87405	156555863	2582800	8815	10961											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156589187C>A	ENST00000353442.4	-	5	556		c.e5-1		LMBR1_ENST00000354505.4_Splice_Site|LMBR1_ENST00000540390.1_Splice_Site|LMBR1_ENST00000359422.4_5'UTR	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													12	50					0.00010058	0.000102273	1	1	0	A	156589187	C	A	156589187	5	1	22	1	0	0	0	0	0	0	1	0	8881	695	24	2	1205	2	LMBR1	7	156589187	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33324	156589187	2549476	8816	10962											
NOM1	64434	broad.mit.edu	37	chr7	156745239	156745240	+	Frame_Shift_Ins	INS	-	-	A													aggagacagtggacttcaagINSaaaaaggaagaactagaaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156745239_156745240insA	ENST00000275820.3	+	2	1074_1075	c.1059_1060insA	c.(1057-1062)aaaaaafs	p.KK353fs		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	353					RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGGACTTCAAGAAAAAGGAAGA	0.401													53	293	---	---	---	---						A	156745240	-	A	156745239	7	5	22	1	0	1	1	0	0	0	0	0	10577	933	33	0	1065	0	NOM1	7	156745239	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	156052	156745239	2393424	8817	10963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	64					0	0	1	0	0	A	156803024	G	A	156803024	2	1	22	1	0	0	0	0	0	0	0	1	9728	1165	41	2		2	MNX1	7	156803024	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57785	156803024	2335639	8818	10964											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	481					1.45855e-51	1.81083e-51	1	1	0	A	156974923	C	A	156974923	3	1	22	1	0	0	0	0	1	0	0	0	16942	912	32	2	922	2	UBE3C	7	156974923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171899	156974923	2163740	8819	10965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541468.1_Silent_p.L329L|NCAPG2_ENST00000449727.2_Silent_p.L828L|NCAPG2_ENST00000275830.10_Silent_p.L620L|NCAPG2_ENST00000356309.3_Silent_p.L828L|NCAPG2_ENST00000409423.1_Silent_p.L828L			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													170	884					0	0	1	0	0	T	158448052	C	T	158448052	2	4	22	1	0	0	0	0	0	0	0	1	10255	813	29	2		2	NCAPG2	7	158448052	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1473129	158448052	690611	8820	10966											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541468.1_Missense_Mutation_p.E34D|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E533D|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E325D|NCAPG2_ENST00000356309.3_Missense_Mutation_p.E533D|NCAPG2_ENST00000409423.1_Missense_Mutation_p.E533D			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													87	457					2.93434e-44	3.58945e-44	1	1	0	A	158457323	C	A	158457323	3	1	22	1	0	0	0	0	1	0	0	0	10255	680	24	2	1892	2	NCAPG2	7	158457323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9271	158457323	681340	8821	10967											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449727.2_Missense_Mutation_p.R320W|NCAPG2_ENST00000275830.10_Missense_Mutation_p.R112W|NCAPG2_ENST00000356309.3_Missense_Mutation_p.R320W|NCAPG2_ENST00000409423.1_Missense_Mutation_p.R320W			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													29	367					0	0	1	0	0	A	158473475	G	A	158473475	3	1	22	1	0	0	0	0	1	0	0	0	10255	1057	37	1	2549	1	NCAPG2	7	158473475	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16152	158473475	665188	8822	10968											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	276					0	0	1	0	0	T	158534454	C	T	158534454	3	4	22	1	0	0	0	0	1	0	0	0	5293	739	26	2	696	2	ESYT2	7	158534454	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60979	158534454	604209	8823	10969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	168					0	0	1	0	0	T	158672615	C	T	158672615	3	4	22	1	0	0	0	0	1	0	0	0	17371	710	25	2	832	2	WDR60	7	158672615	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138161	158672615	466048	8824	10970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	130					0	0	1	0	0	C	158677270	A	C	158677270	3	2	22	1	0	0	0	0	1	0	0	0	17371	14	1	3	917	3	WDR60	7	158677270	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4655	158677270	461393	8825	10971											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402066.1_Silent_p.R299R|VIPR2_ENST00000377633.3_Silent_p.R142R	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													31	137					0	0	1	0	0	T	158835849	C	T	158835849	2	4	22	1	0	0	0	0	0	0	0	1	17230	854	30	2		2	VIPR2	7	158835849	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158579	158835849	302814	8826	10972											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402066.1_Missense_Mutation_p.S281P|VIPR2_ENST00000377633.3_Missense_Mutation_p.S124P	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													104	527					0	0	1	0	0	G	158851209	A	G	158851209	3	3	22	1	0	0	0	0	1	0	0	0	17230	275	10	3	934	3	VIPR2	7	158851209	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15360	158851209	287454	8827	10973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|ZNF596_ENST00000522866.1_3'UTR	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													28	189					0	0	1	0	0	T	192901	C	T	192901	2	4	22	1	0	0	0	0	0	0	0	1	18083	883	31	1		1	ZNF596	8	192901	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08		192901	146171121	8828	10974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	162					0	0	1	0	0	T	195764	C	T	195764	3	4	22	1	0	0	0	0	1	0	0	0	18083	594	21	2	935	2	ZNF596	8	195764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2863	195764	146168258	8829	10975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382824.1_Missense_Mutation_p.D287N|FBXO25_ENST00000276326.5_Missense_Mutation_p.D363N|FBXO25_ENST00000350302.3_Missense_Mutation_p.D354N	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													33	185					0	0	1	0	0	A	418787	G	A	418787	3	1	22	1	0	0	0	0	1	0	0	0	5769	1058	37	1	1125	1	FBXO25	8	418787	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	223023	418787	145945235	8830	10976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													167	674					0	0	1	0	0	T	623643	C	T	623643	3	4	22	1	0	0	0	0	1	0	0	0	5258	768	27	1	634	1	ERICH1	8	623643	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	204856	623643	145740379	8831	10977											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	500					5.01169e-05	5.1097e-05	1	1	0	T	623821	G	T	623821	2	4	22	1	0	0	0	0	0	0	0	1	5258	1103	39	4		4	ERICH1	8	623821	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178	623821	145740201	8832	10978											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	86					0	0	1	0	0	T	1580998	C	T	1580998	2	4	22	1	0	0	0	0	0	0	0	1	4588	767	27	1		1	DLGAP2	8	1580998	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	957177	1580998	144783024	8833	10979											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1624783C>T	ENST00000421627.2	+	8	2181	c.2048_splice	c.e8+1	p.R683_splice		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													10	65					0	0	1	0	0	T	1624783	C	T	1624783	5	4	22	1	0	0	0	0	0	0	1	0	4588	782	27	1	2073	1	DLGAP2	8	1624783	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43785	1624783	144739239	8834	10980											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	268					0	0	1	0	0	T	1626412	C	T	1626412	3	4	22	1	0	0	0	0	1	0	0	0	4588	536	19	1	2111	1	DLGAP2	8	1626412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1629	1626412	144737610	8835	10981											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	413					0	0	1	0	0	T	1719499	C	T	1719499	2	4	22	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	8836	10982											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000349830.3_Missense_Mutation_p.A874D|ARHGEF10_ENST00000262112.6_Intron|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A836D|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.A899D			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													24	269					6.32553e-13	6.81307e-13	1	1	0	A	1874553	C	A	1874553	3	1	22	1	0	0	0	0	1	0	0	0	891	797	28	2	2707	2	ARHGEF10	8	1874553	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155054	1874553	144489469	8837	10983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000523438.1_Silent_p.S813S|MYOM2_ENST00000520298.1_3'UTR	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													18	463					0	0	1	0	0	T	2092671	C	T	2092671	2	4	22	1	0	0	0	0	0	0	0	1	10140	767	27	1		1	MYOM2	8	2092671	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218118	2092671	144271351	8838	10984											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2818703G>A	ENST00000520002.1	-	63	10220	c.9665C>T	c.(9664-9666)aCg>aTg	p.T3222M	CSMD1_ENST00000602723.1_Missense_Mutation_p.T3045M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T3221M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T3045M|CSMD1_ENST00000602557.1_Missense_Mutation_p.T3222M|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													24	109					0	0	1	0	0	A	2818703	G	A	2818703	3	1	22	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	8839	10985											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2832035C>T	ENST00000520002.1	-	57	9236	c.8681G>A	c.(8680-8682)gGc>gAc	p.G2894D	CSMD1_ENST00000602723.1_Missense_Mutation_p.G2836D|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2893D|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2836D|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2894D|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													22	117					0	0	1	0	0	T	2832035	C	T	2832035	3	4	22	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	8840	10986											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2886927G>T	ENST00000520002.1	-	52	8327	c.7772C>A	c.(7771-7773)cCt>cAt	p.P2591H	CSMD1_ENST00000602723.1_Missense_Mutation_p.P2591H|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2590H|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2591H|CSMD1_ENST00000602557.1_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													21	77					2.4624e-09	2.59004e-09	1	1	0	T	2886927	G	T	2886927	3	4	22	1	0	0	0	0	1	0	0	0	3969	1000	35	2	3005	2	CSMD1	8	2886927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54892	2886927	143477095	8841	10987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3087562C>A	ENST00000520002.1	-	28	4903	c.4348_splice	c.e28+1	p.A1450_splice	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Splice_Site_p.A1449_splice|CSMD1_ENST00000602723.1_Splice_Site_p.A1450_splice|CSMD1_ENST00000537824.1_Splice_Site_p.A1449_splice|CSMD1_ENST00000400186.3_Splice_Site_p.A1450_splice|CSMD1_ENST00000602557.1_Splice_Site_p.A1450_splice|CSMD1_ENST00000542608.1_Splice_Site_p.A1449_splice			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													42	257					4.00472e-15	4.3668e-15	1	1	0	A	3087562	C	A	3087562	5	1	22	1	0	0	0	0	0	0	1	0	3969	695	24	2	6525	2	CSMD1	8	3087562	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200635	3087562	143276460	8842	10988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3141743C>A	ENST00000520002.1	-	27	4634	c.4079G>T	c.(4078-4080)aGc>aTc	p.S1360I	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1359I|CSMD1_ENST00000602723.1_Missense_Mutation_p.S1360I|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1359I|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1360I|CSMD1_ENST00000602557.1_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)	12	86					1.08611e-07	1.12939e-07	1	1	0	A	3141743	C	A	3141743	3	1	22	1	0	0	0	0	1	0	0	0	3969	797	28	2	6798	2	CSMD1	8	3141743	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54181	3141743	143222279	8843	10989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3216710G>A	ENST00000520002.1	-	22	3826	c.3271C>T	c.(3271-3273)Cgc>Tgc	p.R1091C	CSMD1_ENST00000539096.1_Missense_Mutation_p.R1090C|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1091C|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1090C|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1091C|CSMD1_ENST00000602557.1_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													84	414					0	0	1	0	0	A	3216710	G	A	3216710	3	1	22	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	8844	10990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3253870C>T	ENST00000520002.1	-	18	2997	c.2442G>A	c.(2440-2442)gaG>gaA	p.E814E	CSMD1_ENST00000539096.1_Silent_p.E813E|CSMD1_ENST00000602723.1_Silent_p.E814E|CSMD1_ENST00000537824.1_Silent_p.E813E|CSMD1_ENST00000400186.3_Silent_p.E814E|CSMD1_ENST00000602557.1_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													12	46					0	0	1	0	0	T	3253870	C	T	3253870	2	4	22	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	8845	10991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000519480.1_Missense_Mutation_p.R350M|MCPH1_ENST00000522905.1_Missense_Mutation_p.R302M	NM_024596.3	NP_078872.2	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													30	181					1.16021e-09	1.22295e-09	1	1	0	T	6302292	G	T	6302292	3	4	22	1	0	0	0	0	1	0	0	0	9448	1000	35	2	1079	2	MCPH1	8	6302292	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3048422	6302292	140061730	8846	10992											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	6	49					0	0	1	0	0	C	6673409	A	C	6673409	1	2	22	0	1	0	0	0	0	0	0	0	17494	188	7	3		3	XKR5	8	6673409	RNA	SNP	A	TCGA-IB-7651-01A-11D-2154-08	371117	6673409	139690613	8847	10993											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	29					0	0	1	0	0	T	6681195	C	T	6681195	1	4	22	0	1	0	0	0	0	0	0	0	17494	768	27	1		1	XKR5	8	6681195	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7786	6681195	139682827	8848	10994											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	316					0	0	1	0	0	A	6690240	G	A	6690240	1	1	22	0	1	0	0	0	0	0	0	0	17494	1101	38	1		1	XKR5	8	6690240	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9045	6690240	139673782	8849	10995											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	88					0	0	1	0	0	G	6783472	A	G	6783472	3	3	22	1	0	0	0	0	1	0	0	0	4416	188	7	3	224	3	DEFA6	8	6783472	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	93232	6783472	139580550	8850	10996											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	75					4.96729e-08	5.17613e-08	1	1	0	T	6783502	G	T	6783502	3	4	22	1	0	0	0	0	1	0	0	0	4416	971	34	2	254	2	DEFA6	8	6783502	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30	6783502	139580520	8851	10997											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	365					1.52223e-32	1.79814e-32	1	1	0	T	6794269	G	T	6794269	3	4	22	1	0	0	0	0	1	0	0	0	4414	962	34	2	148	2	DEFA4	8	6794269	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10767	6794269	139569753	8852	10998											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359758.5_Missense_Mutation_p.S31P|SPAG11B_ENST00000297498.2_Missense_Mutation_p.S31P|SPAG11B_ENST00000361111.2_Missense_Mutation_p.S31P|SPAG11B_ENST00000398462.2_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													47	454					0	0	1	0	0	G	7320352	A	G	7320352	3	3	22	1	0	0	0	0	1	0	0	0	15033	304	11	3	628	3	SPAG11B	8	7320352	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	526083	7320352	139043670	8853	10999											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	361					0	0	1	0	0	A	8175725	G	A	8175725	3	1	22	1	0	0	0	0	1	0	0	0	14264	1087	38	1	52	1	SGK223	8	8175725	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	855373	8175725	138188297	8854	11000											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	315					1.1794e-34	1.40398e-34	1	1	0	T	8175943	G	T	8175943	2	4	22	1	0	0	0	0	0	0	0	1	14264	1048	37	4		4	SGK223	8	8175943	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	218	8175943	138188079	8855	11001											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	407					0	0	1	0	0	A	8197103	G	A	8197103	2	1	22	1	0	0	0	0	0	0	0	1	14264	1194	42	2		2	SGK223	8	8197103	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21160	8197103	138166919	8856	11002											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	177					0	0	1	0	0	A	8654933	G	A	8654933	4	1	22	1	0	0	0	0	0	1	0	0	9571	1095	38	1	99	1	MFHAS1	8	8654933	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	457830	8654933	137709089	8857	11003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	152					0	0	1	0	0	C	8875870	T	C	8875870	2	2	22	1	0	0	0	0	0	0	0	1	5255	1490	52	3		3	ERI1	8	8875870	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	220937	8875870	137488152	8858	11004											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	342					4.75426e-39	5.74315e-39	1	1	0	T	8998463	G	T	8998463	2	4	22	1	0	0	0	0	0	0	0	1	12421	1164	41	2		2	PPP1R3B	8	8998463	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122593	8998463	137365559	8859	11005											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520408.1_Missense_Mutation_p.A353T|TNKS_ENST00000518281.1_Missense_Mutation_p.A116T|TNKS_ENST00000518027.1_3'UTR	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													60	313					0	0	1	0	0	A	9538260	G	A	9538260	3	1	22	1	0	0	0	0	1	0	0	0	16379	1203	42	2	1075	2	TNKS	8	9538260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	539797	9538260	136825762	8860	11006											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	161					0	0	1	0	0	A	9605704	G	A	9605704	2	1	22	1	0	0	0	0	0	0	0	1	16379	1074	38	1		1	TNKS	8	9605704	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67444	9605704	136758318	8861	11007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	265					0	0	1	0	0	G	9623249	A	G	9623249	2	3	22	1	0	0	0	0	0	0	0	1	16379	262	10	3		3	TNKS	8	9623249	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17545	9623249	136740773	8862	11008											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	458					0	0	1	0	0	A	9623794	G	A	9623794	3	1	22	1	0	0	0	0	1	0	0	0	16379	1058	37	1	3697	1	TNKS	8	9623794	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	545	9623794	136740228	8863	11009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	242					0	0	1	0	0	T	9627692	C	T	9627692	3	4	22	1	0	0	0	0	1	0	0	0	16379	855	30	2	3919	2	TNKS	8	9627692	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3898	9627692	136736330	8864	11010											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000317173.4_Missense_Mutation_p.A96T|MSRA_ENST00000518255.1_Missense_Mutation_p.A96T|MSRA_ENST00000382490.5_Missense_Mutation_p.A53T|MSRA_ENST00000521209.2_Missense_Mutation_p.A30T|MSRA_ENST00000441698.2_Intron	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													71	410					0	0	1	0	0	A	10102688	G	A	10102688	3	1	22	1	0	0	0	0	1	0	0	0	9935	1319	46	2	313	2	MSRA	8	10102688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	474996	10102688	136261334	8865	11011											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.G19S	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													52	206					0	0	1	0	0	A	10383150	G	A	10383150	3	1	22	1	0	0	0	0	1	0	0	0	12683	1116	39	1	57	1	PRSS55	8	10383150	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	280462	10383150	135980872	8866	11012											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													281	1228					6.90656e-69	8.76043e-69	1	1	0	A	10464701	C	A	10464701	3	1	22	1	0	0	0	0	1	0	0	0	13585	797	28	2	299	2	RP1L1	8	10464701	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81551	10464701	135899321	8867	11013											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													340	1490					1.6594e-83	2.12483e-83	1	1	0	A	10465626	C	A	10465626	3	1	22	1	0	0	0	0	1	0	0	0	13585	796	28	2	1224	2	RP1L1	8	10465626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	925	10465626	135898396	8868	11014											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001035121.1	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													69	373					8.50881e-52	1.05702e-51	1	1	0	T	10557846	G	T	10557846	2	4	22	1	0	0	0	0	0	0	0	1	2454	1277	45	2		2	C8orf74	8	10557846	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92220	10557846	135806176	8869	11015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	236					0	0	1	0	0	C	10583423	T	C	10583423	3	2	22	1	0	0	0	0	1	0	0	0	15010	1783	62	3	178	3	SOX7	8	10583423	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25577	10583423	135780599	8870	11016											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	182					0	0	1	0	0	A	10755726	G	A	10755726	2	1	22	1	0	0	0	0	0	0	0	1	17495	1277	45	2		2	XKR6	8	10755726	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	172303	10755726	135608296	8871	11017											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	147					0	0	1	0	0	A	10756176	G	A	10756176	2	1	22	1	0	0	0	0	0	0	0	1	17495	1074	38	1		1	XKR6	8	10756176	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	450	10756176	135607846	8872	11018											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	845					1.06647e-15	1.16694e-15	1	1	0	A	11157552	C	A	11157552	2	1	22	1	0	0	0	0	0	0	0	1	9998	581	21	2		2	MTMR9	8	11157552	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	401376	11157552	135206470	8873	11019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	225					0	0	1	0	0	T	11163894	C	T	11163894	4	4	22	1	0	0	0	0	0	1	0	0	9998	760	27	1	805	1	MTMR9	8	11163894	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6342	11163894	135200128	8874	11020											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	249					0	0	1	0	0	T	11180276	C	T	11180276	2	4	22	1	0	0	0	0	0	0	0	1	9998	535	19	1		1	MTMR9	8	11180276	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16382	11180276	135183746	8875	11021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000532059.1_Missense_Mutation_p.D211N|GATA4_ENST00000528712.1_Missense_Mutation_p.D4N	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													143	652					0	0	1	0	0	A	11606439	G	A	11606439	3	1	22	1	0	0	0	0	1	0	0	0	6296	1058	37	1	634	1	GATA4	8	11606439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	426163	11606439	134757583	8876	11022											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528323.1_Silent_p.Q203Q|NEIL2_ENST00000403422.3_Silent_p.Q258Q|NEIL2_ENST00000436750.3_Silent_p.Q319Q|NEIL2_ENST00000455213.2_Silent_p.Q319Q	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					8	180					0	0	1	0	0	A	11643740	G	A	11643740	2	1	22	1	0	0	0	0	0	0	0	1	10366	962	34	2		2	NEIL2	8	11643740	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37301	11643740	134720282	8877	11023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446331.2_3'UTR|FDFT1_ENST00000538689.1_Intron|FDFT1_ENST00000525900.1_Missense_Mutation_p.F13L|FDFT1_ENST00000443614.2_Missense_Mutation_p.F13L	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													25	71					2.27525e-19	2.53767e-19	1	1	0	A	11660380	C	A	11660380	3	1	22	1	0	0	0	0	1	0	0	0	5835	912	32	2	41	2	FDFT1	8	11660380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16640	11660380	134703642	8878	11024											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525777.1_Missense_Mutation_p.V36M|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000538689.1_Missense_Mutation_p.V10M|FDFT1_ENST00000525900.1_Missense_Mutation_p.V114M|FDFT1_ENST00000528812.1_Missense_Mutation_p.V57M|FDFT1_ENST00000530664.1_Missense_Mutation_p.V57M|FDFT1_ENST00000443614.2_Missense_Mutation_p.V121M|FDFT1_ENST00000528643.1_Missense_Mutation_p.V36M	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													37	167					0	0	1	0	0	A	11667339	G	A	11667339	3	1	22	1	0	0	0	0	1	0	0	0	5835	1261	44	2	371	2	FDFT1	8	11667339	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6959	11667339	134696683	8879	11025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525777.1_Silent_p.S193S|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000538689.1_Silent_p.S167S|FDFT1_ENST00000525900.1_Silent_p.S271S|FDFT1_ENST00000528812.1_Silent_p.S214S|FDFT1_ENST00000530664.1_Silent_p.S214S|FDFT1_ENST00000443614.2_Silent_p.S235S|FDFT1_ENST00000528643.1_Silent_p.S193S	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													101	413					0	0	1	0	0	A	11687884	G	A	11687884	2	1	22	1	0	0	0	0	0	0	0	1	5835	1045	37	1		1	FDFT1	8	11687884	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20545	11687884	134676138	8880	11026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000530640.2_Missense_Mutation_p.H128Y|CTSB_ENST00000534510.1_Missense_Mutation_p.H128Y|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000453527.2_Missense_Mutation_p.H128Y|CTSB_ENST00000345125.3_Missense_Mutation_p.H128Y|CTSB_ENST00000531089.1_Missense_Mutation_p.H128Y|CTSB_ENST00000533455.1_Missense_Mutation_p.H128Y|CTSB_ENST00000415599.2_Intron|CTSB_ENST00000434271.1_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													38	159					0	0	1	0	0	A	11706619	G	A	11706619	3	1	22	1	0	0	0	0	1	0	0	0	4054	1319	46	2	661	2	CTSB	8	11706619	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18735	11706619	134657403	8881	11027											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	452					0	0	1	0	0	A	11994753	G	A	11994753	3	1	22	1	0	0	0	0	1	0	0	0	17108	971	34	2	79	2	USP17L2	8	11994753	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	288134	11994753	134369269	8882	11028	68	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	496					0	0	1	0	0	T	11994754	C	T	11994754	3	4	22	1	0	0	0	0	1	0	0	0	17108	768	27	1	80	1	USP17L2	8	11994754	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1	11994754	134369268	8883	11029	68	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	322					0	0	1	0	0	A	11995139	T	A	11995139	3	1	22	1	0	0	0	0	1	0	0	0	17108	1490	52	5	465	5	USP17L2	8	11995139	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	385	11995139	134368883	8884	11030											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	418					0	0	1	0	0	G	11995503	A	G	11995503	3	3	22	1	0	0	0	0	1	0	0	0	17108	72	3	3	829	3	USP17L2	8	11995503	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	364	11995503	134368519	8885	11031											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	693					0	0	1	0	0	A	11995994	G	A	11995994	2	1	22	1	0	0	0	0	0	0	0	1	17108	1136	40	1		1	USP17L2	8	11995994	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	491	11995994	134368028	8886	11032											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000530693.1_5'UTR|LONRF1_ENST00000533751.1_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													19	872					0	0	1	0	0	A	12598479	G	A	12598479	2	1	22	1	0	0	0	0	0	0	0	1	8939	929	33	2		2	LONRF1	8	12598479	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	602485	12598479	133765543	8887	11033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520226.1_Missense_Mutation_p.R873C|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Missense_Mutation_p.R947C|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													113	529					0	0	1	0	0	A	12946138	G	A	12946138	3	1	22	1	0	0	0	0	1	0	0	0	4578	1087	38	1	448	1	DLC1	8	12946138	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	347659	12946138	133417884	8888	11034											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520226.1_Missense_Mutation_p.R407W|DLC1_ENST00000358919.2_Missense_Mutation_p.R481W|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													22	252					0	0	1	0	0	A	12957094	G	A	12957094	3	1	22	1	0	0	0	0	1	0	0	0	4578	1086	38	1	1874	1	DLC1	8	12957094	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10956	12957094	133406928	8889	11035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520226.1_Missense_Mutation_p.K164R|DLC1_ENST00000358919.2_Missense_Mutation_p.K238R|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													146	614					0	0	1	0	0	C	12957822	T	C	12957822	3	2	22	1	0	0	0	0	1	0	0	0	4578	1609	56	3	2602	3	DLC1	8	12957822	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	728	12957822	133406200	8890	11036											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520226.1_Missense_Mutation_p.P132S|DLC1_ENST00000358919.2_Missense_Mutation_p.P206S|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													127	602					0	0	1	0	0	A	12957919	G	A	12957919	3	1	22	1	0	0	0	0	1	0	0	0	4578	1174	41	2	2699	2	DLC1	8	12957919	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97	12957919	133406103	8891	11037											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520226.1_5'UTR|DLC1_ENST00000358919.2_Silent_p.L62L|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													126	518					0	0	1	0	0	A	12968258	G	A	12968258	2	1	22	1	0	0	0	0	0	0	0	1	4578	933	33	2		2	DLC1	8	12968258	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10339	12968258	133395764	8892	11038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000445506.2_Silent_p.G186G|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Silent_p.G168G|MSR1_ENST00000262101.5_Silent_p.G168G|MSR1_ENST00000381998.4_Silent_p.G168G	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													77	352					0	0	1	0	0	C	16026093	T	C	16026093	2	2	22	1	0	0	0	0	0	0	0	1	9934	1654	58	3		3	MSR1	8	16026093	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3057835	16026093	130337929	8893	11039											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000445506.2_Missense_Mutation_p.T106I|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Missense_Mutation_p.T88I|MSR1_ENST00000262101.5_Missense_Mutation_p.T88I|MSR1_ENST00000381998.4_Missense_Mutation_p.T88I	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													98	420					0	0	1	0	0	A	16026334	G	A	16026334	3	1	22	1	0	0	0	0	1	0	0	0	9934	1029	36	2	1168	2	MSR1	8	16026334	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241	16026334	130337688	8894	11040											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	496					4.89831e-52	6.08832e-52	1	1	0	A	17055101	C	A	17055101	4	1	22	1	0	0	0	0	0	1	0	0	17668	576	20	2	402	2	ZDHHC2	8	17055101	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1028767	17055101	129308921	8895	11041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	122					0	0	1	0	0	C	17055914	T	C	17055914	2	2	22	1	0	0	0	0	0	0	0	1	17668	1490	52	3		3	ZDHHC2	8	17055914	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	813	17055914	129308108	8896	11042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	279					0	0	1	0	0	G	17125834	T	G	17125834	3	3	22	1	0	0	0	0	1	0	0	0	17265	1606	56	3	278	3	VPS37A	8	17125834	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	69920	17125834	129238188	8897	11043											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	279					0	0	1	0	0	T	17132303	C	T	17132303	3	4	22	1	0	0	0	0	1	0	0	0	17265	855	30	2	496	2	VPS37A	8	17132303	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6469	17132303	129231719	8898	11044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	316					0	0	1	0	0	G	17132334	T	G	17132334	4	3	22	1	0	0	0	0	0	1	0	0	17265	1435	50	3	527	3	VPS37A	8	17132334	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31	17132334	129231688	8899	11045											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	405					0	0	1	0	0	T	17228582	C	T	17228582	3	4	22	1	0	0	0	0	1	0	0	0	9996	884	31	1	1756	1	MTMR7	8	17228582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96248	17228582	129135440	8900	11046											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000522656.1_Intron|SLC7A2_ENST00000398090.3_Missense_Mutation_p.P25L|SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000004531.10_Missense_Mutation_p.P25L			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													74	333					0	0	1	0	0	T	17396407	C	T	17396407	3	4	22	1	0	0	0	0	1	0	0	0	14752	652	23	1	76	1	SLC7A2	8	17396407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167825	17396407	128967615	8901	11047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000522656.1_Missense_Mutation_p.V625G|SLC7A2_ENST00000398090.3_Missense_Mutation_p.V664G|SLC7A2_ENST00000494857.1_Missense_Mutation_p.V625G|SLC7A2_ENST00000004531.10_Missense_Mutation_p.V665G			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													35	172					0	0	1	0	0	G	17422552	T	G	17422552	3	3	22	1	0	0	0	0	1	0	0	0	14752	1725	60	3	2181	3	SLC7A2	8	17422552	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26145	17422552	128941470	8902	11048											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000519263.1_Silent_p.T689T|MTUS1_ENST00000381862.3_Silent_p.T689T|MTUS1_ENST00000262102.6_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													32	174					0	0	1	0	0	G	17611250	A	G	17611250	2	3	22	1	0	0	0	0	0	0	0	1	10013	59	3	3		3	MTUS1	8	17611250	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	188698	17611250	128752772	8903	11049											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000519263.1_Silent_p.V257V|MTUS1_ENST00000381862.3_Silent_p.V257V|MTUS1_ENST00000262102.6_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													123	616					0	0	1	0	0	G	17612546	A	G	17612546	2	3	22	1	0	0	0	0	0	0	0	1	10013	1	1	3		3	MTUS1	8	17612546	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1296	17612546	128751476	8904	11050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518650.1_Missense_Mutation_p.R231S|FGL1_ENST00000381840.2_Missense_Mutation_p.R231S|FGL1_ENST00000398054.1_Missense_Mutation_p.R231S|FGL1_ENST00000522444.1_Missense_Mutation_p.R231S|FGL1_ENST00000427924.1_Missense_Mutation_p.R231S|FGL1_ENST00000381841.2_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													137	608					0	0	1	0	0	G	17726143	T	G	17726143	3	3	22	1	0	0	0	0	1	0	0	0	5905	1780	62	3	253	3	FGL1	8	17726143	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	113597	17726143	128637879	8905	11051											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000519253.1_Missense_Mutation_p.T1821A|PCM1_ENST00000524226.1_Missense_Mutation_p.T1775A|PCM1_ENST00000327578.8_Missense_Mutation_p.T528A	NM_006197.3	NP_006188.3	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"								36	172					0	0	1	0	0	G	17869310	A	G	17869310	3	3	22	1	0	0	0	0	1	0	0	0	11631	391	14	3	5611	3	PCM1	8	17869310	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	143167	17869310	128494712	8906	11052											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000519253.1_Missense_Mutation_p.R1899H|PCM1_ENST00000524226.1_Intron|PCM1_ENST00000327578.8_Missense_Mutation_p.R606H	NM_006197.3	NP_006188.3	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"								10	133					0	0	1	0	0	A	17872228	G	A	17872228	3	1	22	1	0	0	0	0	1	0	0	0	11631	1145	40	1	5854	1	PCM1	8	17872228	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2918	17872228	128491794	8907	11053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000519253.1_Missense_Mutation_p.Q1982H|PCM1_ENST00000524226.1_Missense_Mutation_p.Q1826H|PCM1_ENST00000327578.8_Missense_Mutation_p.Q689H	NM_006197.3	NP_006188.3	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"								8	47					0.000157383	0.000159814	1	1	0	T	17883088	G	T	17883088	3	4	22	1	0	0	0	0	1	0	0	0	11631	933	33	2	6112	2	PCM1	8	17883088	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10860	17883088	128480934	8908	11054											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417108.2_Nonsense_Mutation_p.R206*|ASAH1_ENST00000381733.4_Nonsense_Mutation_p.R312*|ASAH1_ENST00000520781.1_Nonsense_Mutation_p.R271*|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													97	521					0	0	1	0	0	A	17917112	G	A	17917112	4	1	22	1	0	0	0	0	0	1	0	0	1005	1153	40	1	317	1	ASAH1	8	17917112	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34024	17917112	128446910	8909	11055											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				87	401					0	0	1	0	0	G	18258174	T	G	18258174	3	3	22	1	0	0	0	0	1	0	0	0	10225	1435	50	3	663	3	NAT2	8	18258174	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	341062	18258174	128105848	8910	11056											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000327040.8_Missense_Mutation_p.M481I|PSD3_ENST00000523619.1_Missense_Mutation_p.M416I			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													146	582					0	0	1	0	0	T	18725375	C	T	18725375	3	4	22	1	0	0	0	0	1	0	0	0	12697	826	29	2	1788	2	PSD3	8	18725375	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	467201	18725375	127638647	8911	11057											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000332246.6_Silent_p.V265V|CSGALNACT1_ENST00000311540.4_Silent_p.V265V|CSGALNACT1_ENST00000544602.1_Silent_p.V265V|CSGALNACT1_ENST00000522854.1_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													305	1389					0	0	1	0	0	G	19315993	A	G	19315993	2	3	22	1	0	0	0	0	0	0	0	1	3963	349	13	3		3	CSGALNACT1	8	19315993	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	590618	19315993	127048029	8912	11058											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	64					0	0	1	0	0	A	19675132	G	A	19675132	4	1	22	1	0	0	0	0	0	1	0	0	7820	1212	42	2	86	2	INTS10	8	19675132	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	359139	19675132	126688890	8913	11059											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19681555G>A	ENST00000397977.3	+	7	1234	c.836_splice	c.e7+1	p.R279_splice		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													81	382					0	0	1	0	0	A	19681555	G	A	19681555	5	1	22	1	0	0	0	0	0	0	1	0	7820	1130	39	1	862	1	INTS10	8	19681555	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6423	19681555	126682467	8914	11060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	278					0	0	1	0	0	T	19682423	C	T	19682423	2	4	22	1	0	0	0	0	0	0	0	1	7820	796	28	2		2	INTS10	8	19682423	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	868	19682423	126681599	8915	11061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	284					0	0	1	0	0	C	19689592	A	C	19689592	3	2	22	1	0	0	0	0	1	0	0	0	7820	101	4	3	1390	3	INTS10	8	19689592	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7169	19689592	126674430	8916	11062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	569					0	0	1	0	0	A	19805714	G	A	19805714	3	1	22	1	0	0	0	0	1	0	0	0	8966	1059	37	1	118	1	LPL	8	19805714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116122	19805714	126558308	8917	11063											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	152					0	0	1	0	0	C	19816893	T	C	19816893	5	2	22	1	0	0	0	0	0	0	1	0	8966	1710	59	3	1167	3	LPL	8	19816893	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11179	19816893	126547129	8918	11064											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	241					0	0	1	0	0	A	20068811	G	A	20068811	3	1	22	1	0	0	0	0	1	0	0	0	1177	1232	43	2	609	2	ATP6V1B2	8	20068811	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	251918	20068811	126295211	8919	11065											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	229					0	0	1	0	0	A	20072363	G	A	20072363	3	1	22	1	0	0	0	0	1	0	0	0	1177	1058	37	1	1000	1	ATP6V1B2	8	20072363	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3552	20072363	126291659	8920	11066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	193					0	0	1	0	0	A	20110415	G	A	20110415	3	1	22	1	0	0	0	0	1	0	0	0	9184	1086	38	1	771	1	LZTS1	8	20110415	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38052	20110415	126253607	8921	11067											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	360					0	0	1	0	0	A	20110763	G	A	20110763	2	1	22	1	0	0	0	0	0	0	0	1	9184	991	35	2		2	LZTS1	8	20110763	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	348	20110763	126253259	8922	11068											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000517328.1_Missense_Mutation_p.P239S|GFRA2_ENST00000400782.4_Missense_Mutation_p.P134S|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													27	181					0	0	1	0	0	A	21608179	G	A	21608179	3	1	22	1	0	0	0	0	1	0	0	0	6390	1203	42	2	703	2	GFRA2	8	21608179	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1497416	21608179	124755843	8923	11069											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	361					0	0	1	0	0	T	21840243	C	T	21840243	2	4	22	1	0	0	0	0	0	0	0	1	17509	610	22	2		2	XPO7	8	21840243	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	232064	21840243	124523779	8924	11070											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	419					0	0	1	0	0	T	21844746	C	T	21844746	3	4	22	1	0	0	0	0	1	0	0	0	17509	884	31	1	1778	1	XPO7	8	21844746	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4503	21844746	124519276	8925	11071											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	61					0.00185496	0.00187281	1	1	0	A	21955759	C	A	21955759	3	1	22	1	0	0	0	0	1	0	0	0	5501	796	28	2	728	2	FAM160B2	8	21955759	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111013	21955759	124408263	8926	11072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000522405.1_Nonsense_Mutation_p.E5*|NUDT18_ENST00000521807.2_3'UTR	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													5	32					0.0215528	0.0216335	1	1	0	A	21965776	C	A	21965776	4	1	22	1	0	0	0	0	0	1	0	0	10783	864	30	2	735	2	NUDT18	8	21965776	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10017	21965776	124398246	8927	11073											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	78					0	0	1	0	0	T	21982906	C	T	21982906	2	4	22	1	0	0	0	0	0	0	0	1	7388	796	28	2		2	HR	8	21982906	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17130	21982906	124381116	8928	11074											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	133					8.24728e-16	9.03206e-16	1	1	0	A	21982977	C	A	21982977	3	1	22	1	0	0	0	0	1	0	0	0	7388	797	28	2	2032	2	HR	8	21982977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71	21982977	124381045	8929	11075											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	282					0	0	1	0	0	T	21985060	C	T	21985060	3	4	22	1	0	0	0	0	1	0	0	0	7388	884	31	1	2742	1	HR	8	21985060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2083	21985060	124378962	8930	11076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	264					0	0	1	0	0	A	21986450	G	A	21986450	2	1	22	1	0	0	0	0	0	0	0	1	7388	1074	38	1		1	HR	8	21986450	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1390	21986450	124377572	8931	11077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	286					0	0	1	0	0	T	21986527	C	T	21986527	3	4	22	1	0	0	0	0	1	0	0	0	7388	536	19	1	3484	1	HR	8	21986527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77	21986527	124377495	8932	11078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334530.5_Silent_p.I53I|REEP4_ENST00000523293.1_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													10	349					0	0	1	0	0	A	21997708	G	A	21997708	2	1	22	1	0	0	0	0	0	0	0	1	13259	1048	37	1		1	REEP4	8	21997708	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11181	21997708	124366314	8933	11079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437090.2_Missense_Mutation_p.P30S|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000522109.1_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													112	519					0	0	1	0	0	T	22020132	C	T	22020132	3	4	22	1	0	0	0	0	1	0	0	0	14246	623	22	2	94	2	SFTPC	8	22020132	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22424	22020132	124343890	8934	11080											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437090.2_3'UTR|SFTPC_ENST00000524255.1_Missense_Mutation_p.V132M|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000522109.1_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													71	329					0	0	1	0	0	A	22021513	G	A	22021513	3	1	22	1	0	0	0	0	1	0	0	0	14246	1145	40	1	571	1	SFTPC	8	22021513	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1381	22021513	124342509	8935	11081											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000306349.8_Intron|BMP1_ENST00000306385.5_Intron|BMP1_ENST00000397816.3_Intron|BMP1_ENST00000397814.3_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													104	449					4.98208e-43	6.07636e-43	1	1	0	A	22035193	C	A	22035193	3	1	22	1	0	0	0	0	1	0	0	0	1455	696	24	2		2	BMP1	8	22035193	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13680	22035193	124328829	8936	11082											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000306349.8_Missense_Mutation_p.G331S|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.G331S|BMP1_ENST00000397814.3_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													96	932					0	0	1	0	0	A	22037910	G	A	22037910	3	1	22	1	0	0	0	0	1	0	0	0	1455	1000	35	2	1021	2	BMP1	8	22037910	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2717	22037910	124326112	8937	11083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000306349.8_Missense_Mutation_p.G577R|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.G577R|BMP1_ENST00000397814.3_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													29	448					0	0	1	0	0	A	22053064	G	A	22053064	3	1	22	1	0	0	0	0	1	0	0	0	1455	1116	39	1	1779	1	BMP1	8	22053064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15154	22053064	124310958	8938	11084											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	100					0	0	1	0	0	T	22059428	C	T	22059428	2	4	22	1	0	0	0	0	0	0	0	1	1455	535	19	1		1	BMP1	8	22059428	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6364	22059428	124304594	8939	11085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	234					0	0	1	0	0	A	22064400	G	A	22064400	3	1	22	1	0	0	0	0	1	0	0	0	1455	1261	44	2	2423	2	BMP1	8	22064400	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4972	22064400	124299622	8940	11086											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													170	815					0	0	1	0	0	T	22067082	C	T	22067082	2	4	22	1	0	0	0	0	0	0	0	1	1455	547	19	1		1	BMP1	8	22067082	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2682	22067082	124296940	8941	11087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	340					0	0	1	0	0	G	22069241	A	G	22069241	4	3	22	1	0	0	0	0	0	0	0	0	1455	288	10	3	3129	3	BMP1	8	22069241	Nonstop_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2159	22069241	124294781	8942	11088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	128					0	0	1	0	0	T	22079169	C	T	22079169	2	4	22	1	0	0	0	0	0	0	0	1	11914	639	23	1		1	PHYHIP	8	22079169	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9928	22079169	124284853	8943	11089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	241					0	0	1	0	0	C	22140627	A	C	22140627	3	2	22	1	0	0	0	0	1	0	0	0	12006	72	3	3	520	3	PIWIL2	8	22140627	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	61458	22140627	124223395	8944	11090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	302					4.00338e-15	4.36571e-15	1	1	0	A	22161539	C	A	22161539	3	1	22	1	0	0	0	0	1	0	0	0	12006	739	26	2	1225	2	PIWIL2	8	22161539	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20912	22161539	124202483	8945	11091											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	499					2.91707e-64	3.68505e-64	1	1	0	A	22168639	C	A	22168639	3	1	22	1	0	0	0	0	1	0	0	0	12006	912	32	2	1873	2	PIWIL2	8	22168639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7100	22168639	124195383	8946	11092											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000289952.5_Intron|SLC39A14_ENST00000240095.6_Intron|SLC39A14_ENST00000381237.1_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													12	497					0.105934	0.106132	1	1	0	T	22267616	G	T	22267616	3	4	22	1	0	0	0	0	1	0	0	0	14672	962	34	2	625	2	SLC39A14	8	22267616	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98977	22267616	124096406	8947	11093											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397775.3_Missense_Mutation_p.L143R|PPP3CC_ENST00000518852.1_Missense_Mutation_p.L143R|PPP3CC_ENST00000289963.8_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													7	321					0	0	1	0	0	G	22355569	T	G	22355569	3	3	22	1	0	0	0	0	1	0	0	0	12448	1609	56	3	442	3	PPP3CC	8	22355569	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	87953	22355569	124008453	8948	11094											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000308354.7_Silent_p.S324S|PDLIM2_ENST00000409141.1_Silent_p.S74S|PDLIM2_ENST00000339162.7_Silent_p.S74S|PDLIM2_ENST00000409417.1_Silent_p.S74S|PDLIM2_ENST00000397761.2_Silent_p.S74S	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													15	110					0	0	1	0	0	A	22439020	G	A	22439020	2	1	22	1	0	0	0	0	0	0	0	1	11727	1074	38	1		1	PDLIM2	8	22439020	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83451	22439020	123925002	8949	11095											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	125					0	0	1	0	0	A	22458661	G	A	22458661	3	1	22	1	0	0	0	0	1	0	0	0	2451	1087	38	1	313	1	C8orf58	8	22458661	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19641	22458661	123905361	8950	11096											
KIAA1967	0	broad.mit.edu	37	chr8	22475262	22475262	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgttgcctcaaaccagtcaGagatggagttctcttcactt	8	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22475262G>T	ENST00000308511.4	+	16	2293	c.2044G>T	c.(2044-2046)Gag>Tag	p.E682*	KIAA1967_ENST00000520861.1_Nonsense_Mutation_p.E357*|KIAA1967_ENST00000389279.3_Nonsense_Mutation_p.E682*			Q8N163	K1967_HUMAN		682					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)		AAACCAGTCAGAGATGGAGTT	0.572													89	533					9.24773e-40	1.11906e-39	1	1	0	T	22475262	G	T	22475262	4	4	22	1	0	0	0	0	0	1	0	0	8307	943	33	2	2102	2	KIAA1967	8	22475262	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16601	22475262	123888760	8951	11097											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000519492.1_3'UTR|EGR3_ENST00000522910.1_Missense_Mutation_p.G74E	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													73	324					0	0	1	0	0	T	22548815	C	T	22548815	3	4	22	1	0	0	0	0	1	0	0	0	4999	623	22	2	832	2	EGR3	8	22548815	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73553	22548815	123815207	8952	11098											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.L304I|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.L319I	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													130	558					9.0444e-51	1.12123e-50	1	1	0	A	22864647	C	A	22864647	3	1	22	1	0	0	0	0	1	0	0	0	13384	681	24	2	988	2	RHOBTB2	8	22864647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	315832	22864647	123499375	8953	11099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Silent_p.Q332Q|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Silent_p.Q347Q	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													84	286					0	0	1	0	0	G	22864733	A	G	22864733	2	3	22	1	0	0	0	0	0	0	0	1	13384	40	2	3		3	RHOBTB2	8	22864733	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	86	22864733	123499289	8954	11100											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542226.1_Missense_Mutation_p.S97N|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.S248N	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													54	208					0	0	1	0	0	T	22884752	C	T	22884752	3	4	22	1	0	0	0	0	1	0	0	0	16341	565	20	2	504	2	TNFRSF10B	8	22884752	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20019	22884752	123479270	8955	11101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542226.1_Missense_Mutation_p.R6H|TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.R157H	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													13	64					0	0	1	0	0	T	22887129	C	T	22887129	3	4	22	1	0	0	0	0	1	0	0	0	16341	768	27	1	876	1	TNFRSF10B	8	22887129	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2377	22887129	123476893	8956	11102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	150					0	0	1	0	0	A	23106877	G	A	23106877	3	1	22	1	0	0	0	0	1	0	0	0	3383	1087	38	1	460	1	CHMP7	8	23106877	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219748	23106877	123257145	8957	11103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000313219.7_Silent_p.N404N|CHMP7_ENST00000520102.1_3'UTR	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													8	524					0	0	1	0	0	C	23117748	T	C	23117748	2	2	22	1	0	0	0	0	0	0	0	1	3383	1403	49	3		3	CHMP7	8	23117748	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10871	23117748	123246274	8958	11104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000313219.7_Missense_Mutation_p.N413S|CHMP7_ENST00000520102.1_3'UTR	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													122	510					0	0	1	0	0	G	23117774	A	G	23117774	3	3	22	1	0	0	0	0	1	0	0	0	3383	43	2	3	1272	3	CHMP7	8	23117774	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26	23117774	123246248	8959	11105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													127	413					4.90586e-66	6.20583e-66	1	1	0	T	23185946	G	T	23185946	3	4	22	1	0	0	0	0	1	0	0	0	8945	962	34	2	1261	2	LOXL2	8	23185946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68172	23185946	123178076	8960	11106											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	487					0	0	1	0	0	T	23198655	C	T	23198655	3	4	22	1	0	0	0	0	1	0	0	0	8945	768	27	1	1775	1	LOXL2	8	23198655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12709	23198655	123165367	8961	11107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	289					0	0	1	0	0	A	23217627	G	A	23217627	2	1	22	1	0	0	0	0	0	0	0	1	8945	1368	48	2		2	LOXL2	8	23217627	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18972	23217627	123146395	8962	11108											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	330					0	0	1	0	0	C	23302059	T	C	23302059	3	2	22	1	0	0	0	0	1	0	0	0	5169	1725	60	3	1413	3	ENTPD4	8	23302059	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	84432	23302059	123061963	8963	11109											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	363					2.2871e-25	2.62398e-25	1	1	0	T	23305394	G	T	23305394	3	4	22	1	0	0	0	0	1	0	0	0	5169	991	35	2	1679	2	ENTPD4	8	23305394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3335	23305394	123058628	8964	11110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	200					5.44703e-19	6.0629e-19	1	1	0	T	23709021	G	T	23709021	3	4	22	1	0	0	0	0	1	0	0	0	15331	962	34	2	466	2	STC1	8	23709021	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	403627	23709021	122655001	8965	11111											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24181515A>C	ENST00000265769.4	+	9	999	c.890_splice	c.e9+1	p.T297_splice	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Splice_Site_p.T44_splice|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_Splice_Site_p.T64_splice|ADAM28_ENST00000437154.2_Splice_Site_p.T297_splice|RP11-624C23.1_ENST00000523578.1_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													50	238					0	0	1	0	0	C	24181515	A	C	24181515	5	2	22	1	0	0	0	0	0	0	1	0	245	173	6	3	923	3	ADAM28	8	24181515	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	472494	24181515	122182507	8966	11112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Nonsense_Mutation_p.R200*|RP11-624C23.1_ENST00000523578.1_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													143	618					0	0	1	0	0	T	24254940	C	T	24254940	4	4	22	1	0	0	0	0	0	1	0	0	253	876	31	1	620	1	ADAMDEC1	8	24254940	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73425	24254940	122109082	8967	11113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Silent_p.V72V|ADAM7_ENST00000380789.1_Silent_p.V300V|RP11-624C23.1_ENST00000523578.1_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													81	479					0	0	1	0	0	A	24342814	G	A	24342814	2	1	22	1	0	0	0	0	0	0	0	1	250	1306	46	2		2	ADAM7	8	24342814	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87874	24342814	122021208	8968	11114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.D156N|ADAM7_ENST00000380789.1_Missense_Mutation_p.D384N|RP11-624C23.1_ENST00000523578.1_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													48	279					0	0	1	0	0	A	24346730	G	A	24346730	3	1	22	1	0	0	0	0	1	0	0	0	250	1174	41	2	1196	2	ADAM7	8	24346730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3916	24346730	122017292	8969	11115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518131.1_Missense_Mutation_p.F292L|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_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													19	258					0	0	1	0	0	C	24772180	T	C	24772180	3	2	22	1	0	0	0	0	1	0	0	0	10363	1725	60	3	876	3	NEFM	8	24772180	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	425450	24772180	121591842	8970	11116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	154					0	0	1	0	0	A	24813446	G	A	24813446	1	1	22	0	1	0	0	0	0	0	0	0	10362	1087	38	1		1	NEFL	8	24813446	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41266	24813446	121550576	8971	11117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	120					0	0	1	0	0	T	24813505	C	T	24813505	1	4	22	0	1	0	0	0	0	0	0	0	10362	680	24	2		2	NEFL	8	24813505	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59	24813505	121550517	8972	11118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	271					0	0	1	0	0	A	25183050	G	A	25183050	2	1	22	1	0	0	0	0	0	0	0	1	4717	962	34	2		2	DOCK5	8	25183050	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	369545	25183050	121180972	8973	11119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	146					0	0	1	0	0	A	25193798	G	A	25193798	3	1	22	1	0	0	0	0	1	0	0	0	4717	1290	45	2	2322	2	DOCK5	8	25193798	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10748	25193798	121170224	8974	11120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	245					0	0	1	0	0	A	25246651	G	A	25246651	2	1	22	1	0	0	0	0	0	0	0	1	4717	991	35	2		2	DOCK5	8	25246651	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52853	25246651	121117371	8975	11121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	498					0	0	1	0	0	A	25280756	G	A	25280756	3	1	22	1	0	0	0	0	1	0	0	0	6589	1087	38	1	199	1	GNRH1	8	25280756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34105	25280756	121083266	8976	11122											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	226					9.16793e-09	9.60025e-09	1	1	0	A	25293013	C	A	25293013	3	1	22	1	0	0	0	0	1	0	0	0	8160	594	21	2	506	2	KCTD9	8	25293013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12257	25293013	121071009	8977	11123											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	198					0	0	1	0	0	T	25337590	C	T	25337590	3	4	22	1	0	0	0	0	1	0	0	0	3108	884	31	1	1008	1	CDCA2	8	25337590	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44577	25337590	121026432	8978	11124											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	204					0	0	1	0	0	A	25364262	G	A	25364262	3	1	22	1	0	0	0	0	1	0	0	0	3108	971	34	2	2134	2	CDCA2	8	25364262	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26672	25364262	120999760	8979	11125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000315985.7_Missense_Mutation_p.W22R|PPP2R2A_ENST00000523473.1_3'UTR	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													61	275					0	0	1	0	0	C	26151208	T	C	26151208	3	2	22	1	0	0	0	0	1	0	0	0	12433	1696	59	3	81	3	PPP2R2A	8	26151208	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	786946	26151208	120212814	8980	11126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	165					6.40141e-05	6.5221e-05	1	1	0	T	26227791	G	T	26227791	3	4	22	1	0	0	0	0	1	0	0	0	12433	962	34	2	1285	2	PPP2R2A	8	26227791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76583	26227791	120136231	8981	11127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000523515.1_Silent_p.V91V|BNIP3L_ENST00000518611.1_Silent_p.V91V|BNIP3L_ENST00000521254.1_3'UTR|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													7	265					0	0	1	0	0	T	26265551	C	T	26265551	2	4	22	1	0	0	0	0	0	0	0	1	1478	871	31	1		1	BNIP3L	8	26265551	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37760	26265551	120098471	8982	11128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													132	622					0	0	1	0	0	G	26365196	T	G	26365196	3	3	22	1	0	0	0	0	1	0	0	0	12202	1493	52	3	22	3	PNMA2	8	26365196	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	99645	26365196	119998826	8983	11129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000523027.1_Missense_Mutation_p.A207T|DPYSL2_ENST00000521913.1_Missense_Mutation_p.A207T|DPYSL2_ENST00000521983.1_3'UTR	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													94	415					0	0	1	0	0	A	26492332	G	A	26492332	3	1	22	1	0	0	0	0	1	0	0	0	4773	1087	38	1	757	1	DPYSL2	8	26492332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127136	26492332	119871690	8984	11130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	54					0	0	1	0	0	T	27145212	C	T	27145212	3	4	22	1	0	0	0	0	1	0	0	0	16570	768	27	1	148	1	TRIM35	8	27145212	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	652880	27145212	119218810	8985	11131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000517339.1_Silent_p.I897I|PTK2B_ENST00000420218.2_Silent_p.I897I|PTK2B_ENST00000338238.4_Silent_p.I897I|PTK2B_ENST00000346049.5_Silent_p.I939I	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													20	100					0	0	1	0	0	T	27315813	C	T	27315813	2	4	22	1	0	0	0	0	0	0	0	1	12813	874	31	1		1	PTK2B	8	27315813	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170601	27315813	119048209	8986	11132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520933.2_Missense_Mutation_p.V387M|CHRNA2_ENST00000240132.2_Missense_Mutation_p.V372M	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													64	255					0	0	1	0	0	T	27320801	C	T	27320801	3	4	22	1	0	0	0	0	1	0	0	0	3405	536	19	1	438	1	CHRNA2	8	27320801	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4988	27320801	119043221	8987	11133											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520933.2_Missense_Mutation_p.A93T|CHRNA2_ENST00000240132.2_Intron	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													115	609					0	0	1	0	0	T	27327295	C	T	27327295	3	4	22	1	0	0	0	0	1	0	0	0	3405	768	27	1	1332	1	CHRNA2	8	27327295	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6494	27327295	119036727	8988	11134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000523500.1_Silent_p.E199E|CLU_ENST00000546343.1_Silent_p.E210E|CLU_ENST00000560366.1_Silent_p.E251E|CLU_ENST00000405140.3_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													27	267					0	0	1	0	0	T	27462673	C	T	27462673	2	4	22	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	8989	11135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	441					0	0	1	0	0	G	27514340	A	G	27514340	3	3	22	1	0	0	0	0	1	0	0	0	13932	275	10	3	282	3	SCARA3	8	27514340	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51667	27514340	118849682	8990	11136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000522915.1_Missense_Mutation_p.R85C|CCDC25_ENST00000539095.1_Missense_Mutation_p.R85C|RP11-16P20.3_ENST00000521510.1_RNA	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													80	430					0	0	1	0	0	A	27605688	G	A	27605688	3	1	22	1	0	0	0	0	1	0	0	0	2819	1058	37	1	181	1	CCDC25	8	27605688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91348	27605688	118758334	8991	11137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000522915.1_Missense_Mutation_p.R72W|CCDC25_ENST00000539095.1_Missense_Mutation_p.R72W|RP11-16P20.3_ENST00000521510.1_RNA	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													19	452					0	0	1	0	0	A	27605727	G	A	27605727	3	1	22	1	0	0	0	0	1	0	0	0	2819	1086	38	1	220	1	CCDC25	8	27605727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	27605727	118758295	8992	11138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'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				50	186					0	0	1	0	0	A	27634227	G	A	27634227	2	1	22	1	0	0	0	0	0	0	0	1	5277	933	33	2		2	ESCO2	8	27634227	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28500	27634227	118729795	8993	11139											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	578					0	0	1	0	0	A	27737093	G	A	27737093	2	1	22	1	0	0	0	0	0	0	0	1	13933	1049	37	1		1	SCARA5	8	27737093	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102866	27737093	118626929	8994	11140											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380353.4_Nonsense_Mutation_p.R138*|ELP3_ENST00000542181.1_Nonsense_Mutation_p.R101*|ELP3_ENST00000537665.1_Nonsense_Mutation_p.R111*|ELP3_ENST00000524103.1_Nonsense_Mutation_p.R158*|ELP3_ENST00000521015.1_Nonsense_Mutation_p.R216*	NM_018091.5	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													132	500					0	0	1	0	0	T	27987089	C	T	27987089	4	4	22	1	0	0	0	0	0	1	0	0	5109	760	27	1	718	1	ELP3	8	27987089	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249996	27987089	118376933	8995	11141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380353.4_Missense_Mutation_p.A182V|ELP3_ENST00000542181.1_Missense_Mutation_p.A145V|ELP3_ENST00000537665.1_Missense_Mutation_p.A155V|ELP3_ENST00000524103.1_Missense_Mutation_p.A202V|ELP3_ENST00000521015.1_Missense_Mutation_p.A260V	NM_018091.5	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													6	201					0	0	1	0	0	T	27989836	C	T	27989836	3	4	22	1	0	0	0	0	1	0	0	0	5109	739	26	2	855	2	ELP3	8	27989836	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2747	27989836	118374186	8996	11142											
PNOC	5368	broad.mit.edu	37	chr8	28196589	28196589	+	Frame_Shift_Del	DEL	C	C	-													gagtgtgaagagaaggtcttCcccagccccctctggactcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28196589delC	ENST00000301908.3	+	3	367	c.159delC	c.(157-159)ttfs	p.F53fs	PNOC_ENST00000522209.1_5'UTR|RP11-380I10.4_ENST00000521731.1_RNA	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	53					neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		AGAAGGTCTTCCCCAGCCCCC	0.607													46	491	---	---	---	---						-	28196589	C	-	28196589	7	5	22	1	0	1	0	1	0	0	0	0	12210	854	30	0	165	0	PNOC	8	28196589	Frame_Shift_Del	DEL	C	TCGA-IB-7651-01A-11D-2154-08	206753	28196589	118167433	8997	11143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	493					3.74121e-53	4.66092e-53	1	1	0	A	28217156	C	A	28217156	3	1	22	1	0	0	0	0	1	0	0	0	17938	680	24	2	1147	2	ZNF395	8	28217156	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20567	28217156	118146866	8998	11144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	493					0	0	1	0	0	T	28385002	C	T	28385002	3	4	22	1	0	0	0	0	1	0	0	0	6166	710	25	2	735	2	FZD3	8	28385002	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167846	28385002	117979020	8999	11145											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	362					0	0	1	0	0	A	28385340	G	A	28385340	3	1	22	1	0	0	0	0	1	0	0	0	6166	1290	45	2	1073	2	FZD3	8	28385340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	338	28385340	117978682	9000	11146											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_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													29	159					4.87955e-14	5.28594e-14	1	1	0	T	28573951	G	T	28573951	3	4	22	1	0	0	0	0	1	0	0	0	5355	962	34	2	377	2	EXTL3	8	28573951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	188611	28573951	117790071	9001	11147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_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													88	407					0	0	1	0	0	A	28574109	G	A	28574109	3	1	22	1	0	0	0	0	1	0	0	0	5355	1116	39	1	535	1	EXTL3	8	28574109	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158	28574109	117789913	9002	11148	69	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_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													51	433					0	0	1	0	0	G	28574117	A	G	28574117	3	3	22	1	0	0	0	0	1	0	0	0	5355	130	5	3	543	3	EXTL3	8	28574117	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8	28574117	117789905	9003	11149	69	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000523149.1_Missense_Mutation_p.R129C|EXTL3_ENST00000519886.1_Intron	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													84	343					0	0	1	0	0	T	28575113	C	T	28575113	3	4	22	1	0	0	0	0	1	0	0	0	5355	652	23	1	1539	1	EXTL3	8	28575113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	996	28575113	117788909	9004	11150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000523149.1_Missense_Mutation_p.V329I|EXTL3_ENST00000519886.1_Intron	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													82	317					0	0	1	0	0	A	28575713	G	A	28575713	3	1	22	1	0	0	0	0	1	0	0	0	5355	1145	40	1	2139	1	EXTL3	8	28575713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	600	28575713	117788309	9005	11151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	470					8.70598e-44	1.06393e-43	1	1	0	A	28976427	C	A	28976427	3	1	22	1	0	0	0	0	1	0	0	0	8317	680	24	2	1906	2	KIF13B	8	28976427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	400714	28976427	117387595	9006	11152											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	704					0	0	1	0	0	T	28980978	C	T	28980978	2	4	22	1	0	0	0	0	0	0	0	1	8317	755	27	1		1	KIF13B	8	28980978	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4551	28980978	117383044	9007	11153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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.K729_splice			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													6	321					0.00116845	0.00118049	1	1	0	A	29003895	C	A	29003895	3	1	22	1	0	0	0	0	1	0	0	0	8317	695	24	2	3385	2	KIF13B	8	29003895	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22917	29003895	117360127	9008	11154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	66					2.4624e-09	2.59004e-09	1	1	0	A	29004938	C	A	29004938	3	1	22	1	0	0	0	0	1	0	0	0	8317	796	28	2	3581	2	KIF13B	8	29004938	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1043	29004938	117359084	9009	11155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	90					0	0	1	0	0	T	29033584	C	T	29033584	5	4	22	1	0	0	0	0	0	0	1	0	8317	579	20	2	4658	2	KIF13B	8	29033584	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28646	29033584	117330438	9010	11156											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545648.1_Missense_Mutation_p.W131C|TMEM66_ENST00000536273.1_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													45	368					5.7616e-29	6.72236e-29	1	1	0	A	29923589	C	A	29923589	3	1	22	1	0	0	0	0	1	0	0	0	16255	856	30	2	118	2	TMEM66	8	29923589	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	890005	29923589	116440433	9011	11157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	210					0	0	1	0	0	G	30623764	A	G	30623764	1	3	22	0	1	0	0	0	0	0	0	0	16979	296	11	3		3	UBXN8	8	30623764	RNA	SNP	A	TCGA-IB-7651-01A-11D-2154-08	700175	30623764	115740258	9012	11158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	205					0	0	1	0	0	A	30655229	G	A	30655229	2	1	22	1	0	0	0	0	0	0	0	1	12430	1136	40	1		1	PPP2CB	8	30655229	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31465	30655229	115708793	9013	11159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	102					0	0	1	0	0	G	30690823	T	G	30690823	3	3	22	1	0	0	0	0	1	0	0	0	15838	1490	52	3	24	3	TEX15	8	30690823	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35594	30690823	115673199	9014	11160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													212	924					3.59702e-68	4.56002e-68	1	1	0	A	30695464	C	A	30695464	3	1	22	1	0	0	0	0	1	0	0	0	15838	739	26	2	1190	2	TEX15	8	30695464	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4641	30695464	115668558	9015	11161											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	220					0	0	1	0	0	A	30700178	G	A	30700178	3	1	22	1	0	0	0	0	1	0	0	0	15838	1294	45	2	2029	2	TEX15	8	30700178	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4714	30700178	115663844	9016	11162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													187	892					0	0	1	0	0	A	30701930	G	A	30701930	3	1	22	1	0	0	0	0	1	0	0	0	15838	1116	39	1	3781	1	TEX15	8	30701930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1752	30701930	115662092	9017	11163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	163					3.99451e-17	4.40333e-17	1	1	0	A	30705470	C	A	30705470	3	1	22	1	0	0	0	0	1	0	0	0	15838	565	20	2	7321	2	TEX15	8	30705470	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3540	30705470	115658552	9018	11164											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520407.1_Silent_p.L292L|NRG1_ENST00000523079.1_Silent_p.L77L|NRG1_ENST00000287840.5_Silent_p.L77L|NRG1_ENST00000521670.1_Silent_p.L77L|NRG1_ENST00000356819.4_Silent_p.L77L|NRG1_ENST00000519301.1_Silent_p.L56L|NRG1_ENST00000287842.3_Silent_p.L77L|NRG1_ENST00000287845.5_Silent_p.L77L|NRG1_ENST00000405005.2_Silent_p.L77L|NRG1_ENST00000338921.4_Silent_p.L77L			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													86	407					0	0	1	0	0	A	32453476	G	A	32453476	2	1	22	1	0	0	0	0	0	0	0	1	10695	1291	45	2		2	NRG1	8	32453476	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1748006	32453476	113910546	9019	11165											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520407.1_Missense_Mutation_p.R401H|NRG1_ENST00000523079.1_Missense_Mutation_p.R220H|NRG1_ENST00000539990.1_Missense_Mutation_p.R66H|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000356819.4_Missense_Mutation_p.R220H|NRG1_ENST00000519301.1_Missense_Mutation_p.R165H|NRG1_ENST00000287842.3_Missense_Mutation_p.R220H|NRG1_ENST00000287845.5_Missense_Mutation_p.R186H|NRG1_ENST00000520502.2_Missense_Mutation_p.R275H|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000338921.4_Intron			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													178	626					0	0	1	0	0	A	32600219	G	A	32600219	3	1	22	1	0	0	0	0	1	0	0	0	10695	1087	38	1	2227	1	NRG1	8	32600219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146743	32600219	113763803	9020	11166											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539990.1_Missense_Mutation_p.R328M|NRG1_ENST00000287840.5_Missense_Mutation_p.R485M|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.R490M|NRG1_ENST00000519301.1_Missense_Mutation_p.R435M|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.R482M|NRG1_ENST00000287845.5_Missense_Mutation_p.R456M|NRG1_ENST00000405005.2_Missense_Mutation_p.R485M			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													60	295					9.59835e-30	1.1228e-29	1	1	0	T	32621451	G	T	32621451	3	4	22	1	0	0	0	0	1	0	0	0	10695	1000	35	2	3225	2	NRG1	8	32621451	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21232	32621451	113742571	9021	11167											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539990.1_Missense_Mutation_p.N353S|NRG1_ENST00000287840.5_Missense_Mutation_p.N510S|NRG1_ENST00000356819.4_Missense_Mutation_p.N515S|NRG1_ENST00000519301.1_Missense_Mutation_p.N460S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.N507S|NRG1_ENST00000287845.5_Missense_Mutation_p.N481S|NRG1_ENST00000405005.2_Missense_Mutation_p.N510S			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													38	244					0	0	1	0	0	G	32621526	A	G	32621526	3	3	22	1	0	0	0	0	1	0	0	0	10695	43	2	3	3300	3	NRG1	8	32621526	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75	32621526	113742496	9022	11168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	252					0	0	1	0	0	T	33356000	C	T	33356000	2	4	22	1	0	0	0	0	0	0	0	1	9248	668	24	2		2	MAK16	8	33356000	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	734474	33356000	113008022	9023	11169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	570					0	0	1	0	0	G	33406322	A	G	33406322	2	3	22	1	0	0	0	0	0	0	0	1	13484	272	10	3		3	RNF122	8	33406322	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	50322	33406322	112957700	9024	11170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	195					0	0	1	0	0	C	33454996	A	C	33454996	3	2	22	1	0	0	0	0	1	0	0	0	4849	14	1	3	609	3	DUSP26	8	33454996	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48674	33454996	112909026	9025	11171											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453357.2_Silent_p.N90N|UNC5D_ENST00000416672.1_Silent_p.N95N|UNC5D_ENST00000420357.1_Silent_p.N95N|UNC5D_ENST00000404895.2_Silent_p.N95N			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													18	127					0	0	1	0	0	T	35406991	C	T	35406991	2	4	22	1	0	0	0	0	0	0	0	1	17055	535	19	1		1	UNC5D	8	35406991	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1951995	35406991	110957031	9026	11172											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453357.2_Missense_Mutation_p.A133T|UNC5D_ENST00000416672.1_Missense_Mutation_p.A138T|UNC5D_ENST00000420357.1_Missense_Mutation_p.A138T|UNC5D_ENST00000404895.2_Missense_Mutation_p.A138T			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													108	550					0	0	1	0	0	A	35425705	G	A	35425705	3	1	22	1	0	0	0	0	1	0	0	0	17055	1203	42	2	422	2	UNC5D	8	35425705	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18714	35425705	110938317	9027	11173											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453357.2_Missense_Mutation_p.E492D|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			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													36	243					1.90571e-15	2.08261e-15	1	1	0	T	35583857	G	T	35583857	3	4	22	1	0	0	0	0	1	0	0	0	17055	933	33	2	1529	2	UNC5D	8	35583857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158152	35583857	110780165	9028	11174											
UNC5D	137970	broad.mit.edu	37	chr8	35608248	35608248	+	Frame_Shift_Del	DEL	T	T	-													gaagcaactgaaggtggcggTttttggctgcatgtcctgta							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35608248delT	ENST00000287272.2	+	12	1897	c.1877delT	c.(1876-1878)gtfs	p.V626fs	UNC5D_ENST00000416672.1_Frame_Shift_Del_p.V700fs|UNC5D_ENST00000449677.1_Frame_Shift_Del_p.V271fs|UNC5D_ENST00000404895.2_Frame_Shift_Del_p.V695fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.V690fs|UNC5D_ENST00000420357.1_Frame_Shift_Del_p.V628fs			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	695	ZU5.				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)		AAGGTGGCGGTTTTTGGCTGC	0.488													8	838	---	---	---	---						-	35608248	T	-	35608248	7	5	22	1	0	1	0	1	0	0	0	0	17055	1725	60	0	2134	0	UNC5D	8	35608248	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	24391	35608248	110755774	9029	11175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	83					0	0	1	0	0	T	36644856	C	T	36644856	2	4	22	1	0	0	0	0	0	0	0	1	8137	738	26	2		2	KCNU1	8	36644856	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1036608	36644856	109719166	9030	11176											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	469					0	0	1	0	0	T	36694367	C	T	36694367	2	4	22	1	0	0	0	0	0	0	0	1	8137	805	28	2		2	KCNU1	8	36694367	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49511	36694367	109669655	9031	11177											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	395					0	0	1	0	0	G	36793196	T	G	36793196	3	3	22	1	0	0	0	0	1	0	0	0	8137	1783	62	3	3314	3	KCNU1	8	36793196	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	98829	36793196	109570826	9032	11178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	50					9.05144e-12	9.67624e-12	1	1	0	T	37687516	G	T	37687516	3	4	22	1	0	0	0	0	1	0	0	0	6678	991	35	2	703	2	GPR124	8	37687516	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	894320	37687516	108676506	9033	11179											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	369					0	0	1	0	0	A	37691268	G	A	37691268	2	1	22	1	0	0	0	0	0	0	0	1	6678	991	35	2		2	GPR124	8	37691268	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3752	37691268	108672754	9034	11180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	193					0	0	1	0	0	T	37702272	C	T	37702272	2	4	22	1	0	0	0	0	0	0	0	1	1513	726	26	2		2	BRF2	8	37702272	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11004	37702272	108661750	9035	11181											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	310					0	0	1	0	0	A	37702377	G	A	37702377	2	1	22	1	0	0	0	0	0	0	0	1	1513	1048	37	1		1	BRF2	8	37702377	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105	37702377	108661645	9036	11182											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000524118.1_Missense_Mutation_p.S287Y|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.S435Y	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													84	787					2.13026e-44	2.60662e-44	1	1	0	T	37732351	G	T	37732351	3	4	22	1	0	0	0	0	1	0	0	0	12945	942	33	2	2563	2	RAB11FIP1	8	37732351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29974	37732351	108631671	9037	11183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000524118.1_Silent_p.P248P|RAB11FIP1_ENST00000287263.4_Silent_p.P396P	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													88	351					0	0	1	0	0	T	37732467	C	T	37732467	2	4	22	1	0	0	0	0	0	0	0	1	12945	523	19	1		1	RAB11FIP1	8	37732467	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116	37732467	108631555	9038	11184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	98					0	0	1	0	0	G	37794814	A	G	37794814	3	3	22	1	0	0	0	0	1	0	0	0	6619	449	16	3	634	3	GOT1L1	8	37794814	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	62347	37794814	108569208	9039	11185											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	267					0	0	1	0	0	T	38002748	C	T	38002748	3	4	22	1	0	0	0	0	1	0	0	0	15310	884	31	1	129	1	STAR	8	38002748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207934	38002748	108361274	9040	11186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	230					0	0	1	0	0	T	38006170	C	T	38006170	3	4	22	1	0	0	0	0	1	0	0	0	15310	797	28	2	714	2	STAR	8	38006170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3422	38006170	108357852	9041	11187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	184					0	0	1	0	0	A	38006257	G	A	38006257	3	1	22	1	0	0	0	0	1	0	0	0	15310	971	34	2	801	2	STAR	8	38006257	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87	38006257	108357765	9042	11188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520272.2_Silent_p.L305L|DDHD2_ENST00000528888.1_3'UTR	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													128	602					0	0	1	0	0	A	38103326	G	A	38103326	2	1	22	1	0	0	0	0	0	0	0	1	4350	1335	47	2		2	DDHD2	8	38103326	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97069	38103326	108260696	9043	11189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520272.2_Missense_Mutation_p.D383Y|DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000517385.1_Missense_Mutation_p.D2Y	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													46	264					2.40228e-13	2.59309e-13	1	1	0	T	38105252	G	T	38105252	3	4	22	1	0	0	0	0	1	0	0	0	4350	1174	41	2	1243	2	DDHD2	8	38105252	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1926	38105252	108258770	9044	11190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424479.2_Silent_p.A163A|PPAPDC1B_ENST00000422581.2_Silent_p.A163A|PPAPDC1B_ENST00000531823.1_Silent_p.A31A			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													11	83					0	0	1	0	0	T	38123804	C	T	38123804	2	4	22	1	0	0	0	0	0	0	0	1	12339	523	19	1		1	PPAPDC1B	8	38123804	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18552	38123804	108240218	9045	11191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	268					0	0	1	0	0	A	38369971	G	A	38369971	2	1	22	1	0	0	0	0	0	0	0	1	2460	1219	43	2		2	C8orf86	8	38369971	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	246167	38369971	107994051	9046	11192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000317827.4_Missense_Mutation_p.T176A|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000518415.1_Missense_Mutation_p.T131A|TACC1_ENST00000520340.1_Missense_Mutation_p.T140A|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000443286.2_Missense_Mutation_p.T192A|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000522752.1_Intron			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													17	553					0	0	1	0	0	G	38677288	A	G	38677288	3	3	22	1	0	0	0	0	1	0	0	0	15558	43	2	3	536	3	TACC1	8	38677288	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	307317	38677288	107686734	9047	11193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000317827.4_Missense_Mutation_p.P188S|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000518415.1_Missense_Mutation_p.P143S|TACC1_ENST00000520340.1_Missense_Mutation_p.P152S|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000443286.2_Missense_Mutation_p.P204S|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000522752.1_Intron			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													96	392					0	0	1	0	0	T	38677324	C	T	38677324	3	4	22	1	0	0	0	0	1	0	0	0	15558	739	26	2	572	2	TACC1	8	38677324	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36	38677324	107686698	9048	11194											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000317827.4_Silent_p.D423D|TACC1_ENST00000520973.1_Silent_p.D228D|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000518415.1_Silent_p.D378D|TACC1_ENST00000520340.1_Silent_p.D387D|TACC1_ENST00000519416.1_Silent_p.D228D|TACC1_ENST00000443286.2_Silent_p.D439D|TACC1_ENST00000520615.1_Silent_p.D228D|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000522752.1_Intron			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													186	918					0	0	1	0	0	T	38678031	C	T	38678031	2	4	22	1	0	0	0	0	0	0	0	1	15558	535	19	1		1	TACC1	8	38678031	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	707	38678031	107685991	9049	11195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	324					0	0	1	0	0	A	38940233	G	A	38940233	3	1	22	1	0	0	0	0	1	0	0	0	252	1174	41	2	2021	2	ADAM9	8	38940233	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262202	38940233	107423789	9050	11196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_659441.3	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													9	64					0	0	1	0	0	T	39111964	C	T	39111964	3	4	22	1	0	0	0	0	1	0	0	0	248	893	31	1	2004	1	ADAM32	8	39111964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171731	39111964	107252058	9051	11197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	183					0	0	1	0	0	G	39534975	T	G	39534975	3	3	22	1	0	0	0	0	1	0	0	0	238	1731	60	3	1609	3	ADAM18	8	39534975	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	423011	39534975	106829047	9052	11198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000523755.1_3'UTR|ADAM18_ENST00000541111.1_Missense_Mutation_p.A136T|ADAM18_ENST00000379866.1_Missense_Mutation_p.A698T	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													54	232					0	0	1	0	0	A	39581413	G	A	39581413	3	1	22	1	0	0	0	0	1	0	0	0	238	1319	46	2	2238	2	ADAM18	8	39581413	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46438	39581413	106782609	9053	11199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000347580.4_Missense_Mutation_p.P648S|ADAM2_ENST00000379853.2_Missense_Mutation_p.P511S|ADAM2_ENST00000521880.1_Missense_Mutation_p.P604S	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													60	267					0	0	1	0	0	A	39606846	G	A	39606846	3	1	22	1	0	0	0	0	1	0	0	0	240	1261	44	2	220	2	ADAM2	8	39606846	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25433	39606846	106757176	9054	11200											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	198					0	0	1	0	0	T	39780089	C	T	39780089	2	4	22	1	0	0	0	0	0	0	0	1	7545	912	32	2		2	IDO1	8	39780089	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	173243	39780089	106583933	9055	11201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	180					0	0	1	0	0	T	39872830	C	T	39872830	2	4	22	1	0	0	0	0	0	0	0	1	7546	845	30	2		2	IDO2	8	39872830	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92741	39872830	106491192	9056	11202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	383					0	0	1	0	0	C	39873093	T	C	39873093	3	2	22	1	0	0	0	0	1	0	0	0	7546	1821	63	3	1277	3	IDO2	8	39873093	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	263	39873093	106490929	9057	11203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	303					0	0	1	0	0	A	41122786	G	A	41122786	3	1	22	1	0	0	0	0	1	0	0	0	14215	1145	40	1	103	1	SFRP1	8	41122786	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1249693	41122786	105241236	9058	11204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	188					1.37522e-17	1.51956e-17	1	1	0	A	41161013	C	A	41161013	3	1	22	1	0	0	0	0	1	0	0	0	14215	739	26	2	363	2	SFRP1	8	41161013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38227	41161013	105203009	9059	11205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	436					0	0	1	0	0	T	41467268	C	T	41467268	2	4	22	1	0	0	0	0	0	0	0	1	388	883	31	1		1	AGPAT6	8	41467268	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	306255	41467268	104896754	9060	11206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379758.2_Missense_Mutation_p.P908L|ANK1_ENST00000265709.8_Missense_Mutation_p.P949L|ANK1_ENST00000396945.1_Missense_Mutation_p.P908L|ANK1_ENST00000352337.4_Missense_Mutation_p.P908L|ANK1_ENST00000347528.4_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													38	224					0	0	1	0	0	A	41554206	G	A	41554206	3	1	22	1	0	0	0	0	1	0	0	0	616	1116	39	1	3320	1	ANK1	8	41554206	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86938	41554206	104809816	9061	11207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379758.2_Silent_p.I749I|ANK1_ENST00000265709.8_Silent_p.I782I|ANK1_ENST00000396945.1_Silent_p.I749I|ANK1_ENST00000352337.4_Silent_p.I749I|ANK1_ENST00000347528.4_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													82	401					0	0	1	0	0	A	41561607	G	A	41561607	2	1	22	1	0	0	0	0	0	0	0	1	616	1048	37	1		1	ANK1	8	41561607	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7401	41561607	104802415	9062	11208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379758.2_Silent_p.D583D|ANK1_ENST00000265709.8_Silent_p.D616D|ANK1_ENST00000396945.1_Silent_p.D583D|ANK1_ENST00000352337.4_Silent_p.D583D|ANK1_ENST00000347528.4_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													18	97					0	0	1	0	0	A	41571725	G	A	41571725	2	1	22	1	0	0	0	0	0	0	0	1	616	1368	48	2		2	ANK1	8	41571725	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10118	41571725	104792297	9063	11209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000517922.1_Missense_Mutation_p.K63N|AP3M2_ENST00000174653.3_Missense_Mutation_p.K63N|AP3M2_ENST00000396926.3_Missense_Mutation_p.K63N|AP3M2_ENST00000520685.1_Intron	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													26	307					2.79863e-10	2.965e-10	1	1	0	T	42012394	G	T	42012394	3	4	22	1	0	0	0	0	1	0	0	0	744	933	33	2	191	2	AP3M2	8	42012394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	440669	42012394	104351628	9064	11210											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000517922.1_Missense_Mutation_p.T151M|AP3M2_ENST00000174653.3_Missense_Mutation_p.T151M|AP3M2_ENST00000396926.3_Missense_Mutation_p.T151M|AP3M2_ENST00000520685.1_Intron	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													179	795					0	0	1	0	0	T	42019805	C	T	42019805	3	4	22	1	0	0	0	0	1	0	0	0	744	536	19	1	462	1	AP3M2	8	42019805	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7411	42019805	104344217	9065	11211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000174653.3_Missense_Mutation_p.T309A|AP3M2_ENST00000396926.3_Missense_Mutation_p.T309A|AP3M2_ENST00000520685.1_Intron	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													55	264					0	0	1	0	0	G	42024803	A	G	42024803	3	3	22	1	0	0	0	0	1	0	0	0	744	275	10	3	947	3	AP3M2	8	42024803	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4998	42024803	104339219	9066	11212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429089.2_Missense_Mutation_p.K451E|PLAT_ENST00000519510.1_Missense_Mutation_p.K388E|PLAT_ENST00000429710.2_Missense_Mutation_p.K325E|PLAT_ENST00000270189.6_Silent_p.A281A|PLAT_ENST00000524009.1_Missense_Mutation_p.K362E|PLAT_ENST00000352041.3_Missense_Mutation_p.K405E	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													4	86					0	0	1	0	0	C	42037456	T	C	42037456	3	2	22	1	0	0	0	0	1	0	0	0	12069	1821	63	3	349	3	PLAT	8	42037456	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12653	42037456	104326566	9067	11213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429089.2_Missense_Mutation_p.R284H|PLAT_ENST00000519510.1_Missense_Mutation_p.R221H|PLAT_ENST00000429710.2_Missense_Mutation_p.R158H|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000524009.1_Missense_Mutation_p.R195H|PLAT_ENST00000352041.3_Missense_Mutation_p.R238H	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													29	161					0	0	1	0	0	T	42039493	C	T	42039493	3	4	22	1	0	0	0	0	1	0	0	0	12069	768	27	1	861	1	PLAT	8	42039493	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2037	42039493	104324529	9068	11214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379708.3_Missense_Mutation_p.Q128R|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000416505.2_Missense_Mutation_p.Q292R	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													30	148					0	0	1	0	0	G	42174349	A	G	42174349	3	3	22	1	0	0	0	0	1	0	0	0	7655	188	7	3	1090	3	IKBKB	8	42174349	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	134856	42174349	104189673	9069	11215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379708.3_Silent_p.N305N|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000416505.2_Silent_p.N469N	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													95	412					0	0	1	0	0	T	42178258	C	T	42178258	2	4	22	1	0	0	0	0	0	0	0	1	7655	535	19	1		1	IKBKB	8	42178258	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3909	42178258	104185764	9070	11216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379708.3_Missense_Mutation_p.A471T|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000416505.2_Missense_Mutation_p.A635T	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													65	261					0	0	1	0	0	A	42183581	G	A	42183581	3	1	22	1	0	0	0	0	1	0	0	0	7655	1203	42	2	2154	2	IKBKB	8	42183581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5323	42183581	104180441	9071	11217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					8	244					0.000274275	0.000278163	1	1	0	A	42218842	C	A	42218842	3	1	22	1	0	0	0	0	1	0	0	0	12237	913	32	2	618	2	POLB	8	42218842	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35261	42218842	104145180	9072	11218											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	105					0	0	1	0	0	G	42233345	A	G	42233345	3	3	22	1	0	0	0	0	1	0	0	0	4575	304	11	3	571	3	DKK4	8	42233345	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14503	42233345	104130677	9073	11219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534961.1_Silent_p.T100T|RNF170_ENST00000526349.1_Silent_p.T16T|RNF170_ENST00000319104.3_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													28	136					6.38683e-12	6.83756e-12	1	1	0	T	42725169	G	T	42725169	3	4	22	1	0	0	0	0	1	0	0	0	13514	1335	47	2	703	2	RNF170	8	42725169	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	491824	42725169	103638853	9074	11220											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.R72Q|FNTA_ENST00000524546.1_3'UTR|FNTA_ENST00000342116.4_Intron|FNTA_ENST00000529687.1_5'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													109	550					0	0	1	0	0	A	42919301	G	A	42919301	3	1	22	1	0	0	0	0	1	0	0	0	6010	1058	37	1	354	1	FNTA	8	42919301	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194132	42919301	103444721	9075	11221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000302279.3_Missense_Mutation_p.R357K|FNTA_ENST00000342116.4_Missense_Mutation_p.R290K			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													39	198					0	0	1	0	0	A	42940355	G	A	42940355	3	1	22	1	0	0	0	0	1	0	0	0	6010	942	33	2	1104	2	FNTA	8	42940355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21054	42940355	103423667	9076	11222											
SGK196	0	broad.mit.edu	37	chr8	42977294	42977294	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaaagttgcactctcacaGctcaccagcctggagatgaa	8	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42977294G>T	ENST00000331373.5	+	5	582	c.327G>T	c.(325-327)caG>caT	p.Q109H		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		109	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										CACTCTCACAGCTCACCAGCC	0.488													84	400					3.56499e-28	4.14352e-28	1	1	0	T	42977294	G	T	42977294	3	4	22	1	0	0	0	0	1	0	0	0	14262	962	34	2	333	2	SGK196	8	42977294	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36939	42977294	103386728	9077	11223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	392					0	0	1	0	0	A	43027471	G	A	43027471	3	1	22	1	0	0	0	0	1	0	0	0	7129	1348	47	2	792	2	HGSNAT	8	43027471	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50177	43027471	103336551	9078	11224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													127	598					0	0	1	0	0	T	43033296	C	T	43033296	2	4	22	1	0	0	0	0	0	0	0	1	7129	796	28	2		2	HGSNAT	8	43033296	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5825	43033296	103330726	9079	11225											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A3830V	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					10	83					0	0	1	0	0	A	48691355	G	A	48691355	3	1	22	1	0	0	0	0	1	0	0	0	12573	971	34	2	821	2	PRKDC	8	48691355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5658059	48691355	97672667	9080	11226	70	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A3830T	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					11	84					0	0	1	0	0	T	48691356	C	T	48691356	3	4	22	1	0	0	0	0	1	0	0	0	12573	768	27	1	822	1	PRKDC	8	48691356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1	48691356	97672666	9081	11227	70	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.D3586D	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					42	185					0	0	1	0	0	G	48701608	A	G	48701608	2	3	22	1	0	0	0	0	0	0	0	1	12573	98	4	3		3	PRKDC	8	48701608	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10252	48701608	97662414	9082	11228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Y2771C	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					48	320					0	0	1	0	0	C	48743248	T	C	48743248	3	2	22	1	0	0	0	0	1	0	0	0	12573	1638	57	3	4175	3	PRKDC	8	48743248	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41640	48743248	97620774	9083	11229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L1760V	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					73	303					0	0	1	0	0	C	48790367	A	C	48790367	3	2	22	1	0	0	0	0	1	0	0	0	12573	98	4	3	7293	3	PRKDC	8	48790367	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47119	48790367	97573655	9084	11230											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_653252.3	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													36	198					2.59497e-14	2.81812e-14	1	1	0	A	52258438	C	A	52258438	3	1	22	1	0	0	0	0	1	0	0	0	12900	797	28	2	436	2	PXDNL	8	52258438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3468071	52258438	94105584	9085	11231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_653252.3	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													27	107					0	0	1	0	0	T	52321942	C	T	52321942	3	4	22	1	0	0	0	0	1	0	0	0	12900	768	27	1	2177	1	PXDNL	8	52321942	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63504	52321942	94042080	9086	11232											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_653252.3	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													10	50					0	0	1	0	0	T	52323862	C	T	52323862	2	4	22	1	0	0	0	0	0	0	0	1	12900	796	28	2		2	PXDNL	8	52323862	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1920	52323862	94040160	9087	11233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_653252.3	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													55	326					0	0	1	0	0	T	52384855	C	T	52384855	3	4	22	1	0	0	0	0	1	0	0	0	12900	884	31	1	3751	1	PXDNL	8	52384855	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60993	52384855	93979167	9088	11234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	530					0	0	1	0	0	C	53074010	A	C	53074010	3	2	22	1	0	0	0	0	1	0	0	0	15268	14	1	3	1676	3	ST18	8	53074010	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	689155	53074010	93290012	9089	11235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539297.1_Missense_Mutation_p.P493H|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.P493H	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													106	356					4.00015e-43	4.88018e-43	1	1	0	T	53573722	G	T	53573722	3	4	22	1	0	0	0	0	1	0	0	0	13151	1000	35	2	3366	2	RB1CC1	8	53573722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	499712	53573722	92790300	9090	11236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539297.1_Missense_Mutation_p.L430M|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.L430M	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													96	400					1.43847e-43	1.75646e-43	1	1	0	T	53574165	G	T	53574165	3	4	22	1	0	0	0	0	1	0	0	0	13151	1020	36	2	3560	2	RB1CC1	8	53574165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	443	53574165	92789857	9091	11237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539297.1_Missense_Mutation_p.R83C|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R83C	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													36	191					0	0	1	0	0	A	53596231	G	A	53596231	3	1	22	1	0	0	0	0	1	0	0	0	13151	1058	37	1	4617	1	RB1CC1	8	53596231	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22066	53596231	92767791	9092	11238											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	167					0	0	1	0	0	T	53852661	C	T	53852661	3	4	22	1	0	0	0	0	1	0	0	0	10615	768	27	1	196	1	NPBWR1	8	53852661	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	256430	53852661	92511361	9093	11239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	272					0	0	1	0	0	A	55055274	G	A	55055274	3	1	22	1	0	0	0	0	1	0	0	0	9829	943	33	2	495	2	MRPL15	8	55055274	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1202613	55055274	91308748	9094	11240											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	337					1.62783e-20	1.82478e-20	1	1	0	T	55055322	G	T	55055322	3	4	22	1	0	0	0	0	1	0	0	0	9829	971	34	2	543	2	MRPL15	8	55055322	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	55055322	91308700	9095	11241											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	353					0	0	1	0	0	C	55060128	T	C	55060128	3	2	22	1	0	0	0	0	1	0	0	0	9829	1435	50	3	758	3	MRPL15	8	55060128	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4806	55060128	91303894	9096	11242											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	453					0	0	1	0	0	A	55533931	G	A	55533931	2	1	22	1	0	0	0	0	0	0	0	1	13584	1074	38	1		1	RP1	8	55533931	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	473803	55533931	90830091	9097	11243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	179					0	0	1	0	0	T	55537454	C	T	55537454	4	4	22	1	0	0	0	0	0	1	0	0	13584	876	31	1	1022	1	RP1	8	55537454	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3523	55537454	90826568	9098	11244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	260					0	0	1	0	0	C	55539291	A	C	55539291	3	2	22	1	0	0	0	0	1	0	0	0	13584	101	4	3	2859	3	RP1	8	55539291	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1837	55539291	90824731	9099	11245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	263					0	0	1	0	0	C	55540824	A	C	55540824	3	2	22	1	0	0	0	0	1	0	0	0	13584	43	2	3	4392	3	RP1	8	55540824	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1533	55540824	90823198	9100	11246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000519367.1_3'UTR|CHCHD7_ENST00000521831.1_3'UTR|CHCHD7_ENST00000396723.5_Missense_Mutation_p.R82K|CHCHD7_ENST00000518801.1_3'UTR|CHCHD7_ENST00000303759.3_Missense_Mutation_p.R98K|CHCHD7_ENST00000521524.1_3'UTR|CHCHD7_ENST00000523061.1_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								56	252					0	0	1	0	0	A	57129954	G	A	57129954	3	1	22	1	0	0	0	0	1	0	0	0	3343	942	33	2	351	2	CHCHD7	8	57129954	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1589130	57129954	89234068	9101	11247											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	176					0	0	1	0	0	T	57221490	C	T	57221490	3	4	22	1	0	0	0	0	1	0	0	0	14025	739	26	2	383	2	SDR16C5	8	57221490	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91536	57221490	89142532	9102	11248											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	498					0	0	1	0	0	C	57228591	A	C	57228591	3	2	22	1	0	0	0	0	1	0	0	0	14025	391	14	3	637	3	SDR16C5	8	57228591	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7101	57228591	89135431	9103	11249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451791.2_Missense_Mutation_p.K73N|PENK_ENST00000523274.1_5'UTR	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													120	506					0	0	1	0	0	G	57354416	T	G	57354416	3	3	22	1	0	0	0	0	1	0	0	0	11774	1722	60	3	588	3	PENK	8	57354416	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	125825	57354416	89009606	9104	11250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451791.2_Intron|PENK_ENST00000314922.3_Intron|PENK_ENST00000523051.1_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													14	149					0	0	1	0	0	A	57358278	G	A	57358278	3	1	22	1	0	0	0	0	1	0	0	0	11774	1102	38	1		1	PENK	8	57358278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3862	57358278	89005744	9105	11251											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	174					0	0	1	0	0	T	59059135	C	T	59059135	2	4	22	1	0	0	0	0	0	0	0	1	5428	680	24	2		2	FAM110B	8	59059135	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1700857	59059135	87304887	9106	11252											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	246					0	0	1	0	0	G	59360082	A	G	59360082	3	3	22	1	0	0	0	0	1	0	0	0	16975	43	2	3	998	3	UBXN2B	8	59360082	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	300947	59360082	87003940	9107	11253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				126	501					0	0	1	0	0	C	59404294	T	C	59404294	3	2	22	1	0	0	0	0	1	0	0	0	4219	1667	58	3	263	3	CYP7A1	8	59404294	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44212	59404294	86959728	9108	11254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	277					5.82388e-19	6.47979e-19	1	1	0	A	59512420	C	A	59512420	4	1	22	1	0	0	0	0	0	1	0	0	10722	922	32	2	1467	2	NSMAF	8	59512420	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108126	59512420	86851602	9109	11255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	139					0.0215528	0.0216335	1	1	0	A	59739462	C	A	59739462	5	1	22	1	0	0	0	0	0	0	1	0	16438	695	24	2	672	2	TOX	8	59739462	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227042	59739462	86624560	9110	11256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000529579.1_Missense_Mutation_p.S67F|RAB2A_ENST00000531289.1_Missense_Mutation_p.S43F	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													97	504					0	0	1	0	0	T	61496780	C	T	61496780	3	4	22	1	0	0	0	0	1	0	0	0	12969	855	30	2	214	2	RAB2A	8	61496780	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1757318	61496780	84867242	9111	11257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61729060G>A	ENST00000423902.2	+	8	3092	c.2613_splice	c.e8+1	p.E871_splice	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Splice_Site_p.E871_splice	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													11	60					0	0	1	0	0	A	61729060	G	A	61729060	5	1	22	1	0	0	0	0	0	0	1	0	3352	1014	35	2	2639	2	CHD7	8	61729060	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	232280	61729060	84634962	9112	11258											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.N964H	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													21	200					0	0	1	0	0	C	61734637	A	C	61734637	3	2	22	1	0	0	0	0	1	0	0	0	3352	14	1	3	2928	3	CHD7	8	61734637	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5577	61734637	84629385	9113	11259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	122					0	0	1	0	0	G	61748784	A	G	61748784	3	3	22	1	0	0	0	0	1	0	0	0	3352	449	16	3	3989	3	CHD7	8	61748784	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14147	61748784	84615238	9114	11260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	92					3.51602e-12	3.76992e-12	1	1	0	A	61750324	C	A	61750324	3	1	22	1	0	0	0	0	1	0	0	0	3352	797	28	2	4349	2	CHD7	8	61750324	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1540	61750324	84613698	9115	11261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR	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													16	48					9.16793e-09	9.60025e-09	1	1	0	T	61768711	G	T	61768711	3	4	22	1	0	0	0	0	1	0	0	0	3352	971	34	2	7240	2	CHD7	8	61768711	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18387	61768711	84595311	9116	11262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	95					0	0	1	0	0	A	61777910	G	A	61777910	2	1	22	1	0	0	0	0	0	0	0	1	3352	1103	39	1		1	CHD7	8	61777910	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9199	61777910	84586112	9117	11263											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	183					1.30091e-30	1.52718e-30	1	1	0	T	62212434	G	T	62212434	3	4	22	1	0	0	0	0	1	0	0	0	3594	1183	41	2	50	2	CLVS1	8	62212434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	434524	62212434	84151588	9118	11264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													141	582					0	0	1	0	0	G	62460657	T	G	62460657	3	3	22	1	0	0	0	0	1	0	0	0	1052	1606	56	3	559	3	ASPH	8	62460657	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	248223	62460657	83903365	9119	11265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													241	1116					0	0	1	0	0	T	62465611	C	T	62465611	3	4	22	1	0	0	0	0	1	0	0	0	1052	710	25	2	695	2	ASPH	8	62465611	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4954	62465611	83898411	9120	11266											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000522835.1_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000379454.4_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000522603.1_Missense_Mutation_p.R128Q|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000541428.1_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													7	33					0	0	1	0	0	T	62578060	C	T	62578060	3	4	22	1	0	0	0	0	1	0	0	0	1052	884	31	1	2308	1	ASPH	8	62578060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112449	62578060	83785962	9121	11267											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	131					0	0	1	0	0	A	63659620	G	A	63659620	3	1	22	1	0	0	0	0	1	0	0	0	10484	1377	48	2	417	2	NKAIN3	8	63659620	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1081560	63659620	82704402	9122	11268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	66					0	0	1	0	0	C	63927900	T	C	63927900	3	2	22	1	0	0	0	0	1	0	0	0	6399	1396	49	3	12	3	GGH	8	63927900	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	268280	63927900	82436122	9123	11269											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	87					0	0	1	0	0	T	65494072	C	T	65494072	3	4	22	1	0	0	0	0	1	0	0	0	1420	768	27	1	727	1	BHLHE22	8	65494072	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1566172	65494072	80869950	9124	11270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	429					0	0	1	0	0	T	66539594	C	T	66539594	3	4	22	1	0	0	0	0	1	0	0	0	948	768	27	1	832	1	ARMC1	8	66539594	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1045522	66539594	79824428	9125	11271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	323					0	0	1	0	0	T	66619263	C	T	66619263	3	4	22	1	0	0	0	0	1	0	0	0	9973	478	17	2	554	2	MTFR1	8	66619263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79669	66619263	79744759	9126	11272											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	704					0	0	1	0	0	T	66989029	C	T	66989029	3	4	22	1	0	0	0	0	1	0	0	0	4678	893	31	1	260	1	DNAJC5B	8	66989029	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	369766	66989029	79374993	9127	11273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000276573.7_Missense_Mutation_p.P63S|TRIM55_ENST00000350034.4_Missense_Mutation_p.P63S|TRIM55_ENST00000353317.5_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													98	479					0	0	1	0	0	T	67040557	C	T	67040557	3	4	22	1	0	0	0	0	1	0	0	0	16590	739	26	2	193	2	TRIM55	8	67040557	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51528	67040557	79323465	9128	11274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379385.4_Missense_Mutation_p.A73V|ADHFE1_ENST00000415254.1_Missense_Mutation_p.A25V|ADHFE1_ENST00000496501.1_3'UTR	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													133	624					0	0	1	0	0	T	67356848	C	T	67356848	3	4	22	1	0	0	0	0	1	0	0	0	313	797	28	2	236	2	ADHFE1	8	67356848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	316291	67356848	79007174	9129	11275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379385.4_Missense_Mutation_p.R288W|ADHFE1_ENST00000415254.1_Missense_Mutation_p.R240W|ADHFE1_ENST00000496501.1_3'UTR	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													55	211					0	0	1	0	0	T	67364315	C	T	67364315	3	4	22	1	0	0	0	0	1	0	0	0	313	759	27	1	896	1	ADHFE1	8	67364315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7467	67364315	78999707	9130	11276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67369306C>T	ENST00000396623.3	+	12	1098	c.1065_splice	c.e12-1	p.P356_splice	ADHFE1_ENST00000415254.1_Splice_Site_p.P308_splice|ADHFE1_ENST00000496501.1_3'UTR	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													32	954					0	0	1	0	0	T	67369306	C	T	67369306	5	4	22	1	0	0	0	0	0	0	1	0	313	637	22	2	1113	2	ADHFE1	8	67369306	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4991	67369306	78994716	9131	11277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000482608.2_Intron|C8orf46_ENST00000521495.1_Missense_Mutation_p.Q4H|C8orf46_ENST00000480005.1_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													56	259					4.09171e-25	4.69077e-25	1	1	0	T	67405895	G	T	67405895	3	4	22	1	0	0	0	0	1	0	0	0	2448	933	33	2	14	2	C8orf46	8	67405895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36589	67405895	78958127	9132	11278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	749					0	0	1	0	0	A	67576841	G	A	67576841	4	1	22	1	0	0	0	0	0	1	0	0	17201	1153	40	1	1327	1	VCPIP1	8	67576841	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	170946	67576841	78787181	9133	11279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													205	900					0	0	1	0	0	A	67577555	G	A	67577555	4	1	22	1	0	0	0	0	0	1	0	0	17201	1095	38	1	2041	1	VCPIP1	8	67577555	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	714	67577555	78786467	9134	11280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	1150					0	0	1	0	0	G	67577597	T	G	67577597	3	3	22	1	0	0	0	0	1	0	0	0	17201	1551	54	3	2083	3	VCPIP1	8	67577597	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42	67577597	78786425	9135	11281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	274					0	0	1	0	0	C	67578482	A	C	67578482	3	2	22	1	0	0	0	0	1	0	0	0	17201	69	3	3	2968	3	VCPIP1	8	67578482	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	885	67578482	78785540	9136	11282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000345714.4_Silent_p.L57L|C8orf44-SGK3_ENST00000519289.1_Silent_p.L57L|SGK3_ENST00000522398.1_Silent_p.L57L|SGK3_ENST00000520976.1_Silent_p.L57L|SGK3_ENST00000521198.2_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													30	598					0	0	1	0	0	G	67710851	T	G	67710851	2	3	22	1	0	0	0	0	0	0	0	1	14266	1828	64	3		3	SGK3	8	67710851	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	132369	67710851	78653171	9137	11283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000345714.4_Missense_Mutation_p.L476V|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.L476V|SGK3_ENST00000522398.1_Missense_Mutation_p.L476V|SGK3_ENST00000520976.1_Missense_Mutation_p.L444V|SGK3_ENST00000521198.2_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													89	365					0	0	1	0	0	G	67771751	T	G	67771751	3	3	22	1	0	0	0	0	1	0	0	0	14266	1490	52	3	1488	3	SGK3	8	67771751	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	60900	67771751	78592271	9138	11284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	157					0	0	1	0	0	A	68030998	G	A	68030998	3	1	22	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	9139	11285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	300					0	0	1	0	0	A	68113742	G	A	68113742	3	1	22	1	0	0	0	0	1	0	0	0	849	1116	39	1	334	1	ARFGEF1	8	68113742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82744	68113742	78250280	9140	11286											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	421					0	0	1	0	0	A	68117025	G	A	68117025	2	1	22	1	0	0	0	0	0	0	0	1	849	991	35	2		2	ARFGEF1	8	68117025	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3283	68117025	78246997	9141	11287	71	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	388					0	0	1	0	0	A	68117027	G	A	68117027	3	1	22	1	0	0	0	0	1	0	0	0	849	1203	42	2	722	2	ARFGEF1	8	68117027	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2	68117027	78246995	9142	11288	71	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	255					7.07596e-05	7.20791e-05	1	1	0	T	68123756	G	T	68123756	3	4	22	1	0	0	0	0	1	0	0	0	849	971	34	2	792	2	ARFGEF1	8	68123756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6729	68123756	78240266	9143	11289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	130					7.26314e-15	7.90818e-15	1	1	0	A	68183949	C	A	68183949	3	1	22	1	0	0	0	0	1	0	0	0	849	912	32	2	4109	2	ARFGEF1	8	68183949	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60193	68183949	78180073	9144	11290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	393					0	0	1	0	0	T	68200271	C	T	68200271	3	4	22	1	0	0	0	0	1	0	0	0	849	661	23	1	4735	1	ARFGEF1	8	68200271	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16322	68200271	78163751	9145	11291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	267					0	0	1	0	0	G	68965365	A	G	68965365	3	3	22	1	0	0	0	0	1	0	0	0	12529	101	4	3	1011	3	PREX2	8	68965365	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	765094	68965365	77398657	9146	11292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348340.2_Missense_Mutation_p.S266Y|C8orf34_ENST00000518698.1_Missense_Mutation_p.S352Y			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													93	469					2.608e-42	3.17499e-42	1	1	0	A	69445334	C	A	69445334	3	1	22	1	0	0	0	0	1	0	0	0	2439	913	32	2	744	2	C8orf34	8	69445334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	479969	69445334	76918688	9147	11293											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402687.4_Missense_Mutation_p.A453T|SULF1_ENST00000458141.2_Missense_Mutation_p.A453T|SULF1_ENST00000419716.3_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													71	385					0	0	1	0	0	A	70517147	G	A	70517147	3	1	22	1	0	0	0	0	1	0	0	0	15426	971	34	2	1391	2	SULF1	8	70517147	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1071813	70517147	75846875	9148	11294											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402687.4_Missense_Mutation_p.H498P|SULF1_ENST00000458141.2_Missense_Mutation_p.H498P|SULF1_ENST00000419716.3_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													51	233					0	0	1	0	0	C	70533385	A	C	70533385	3	2	22	1	0	0	0	0	1	0	0	0	15426	217	8	3	1531	3	SULF1	8	70533385	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16238	70533385	75830637	9149	11295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70585410G>A	ENST00000260126.3	-	10	2947	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Silent_p.F692F	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	747						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													95	437					0	0	1	0	0	A	70585410	G	A	70585410	2	1	22	1	0	0	0	0	0	0	0	1	14786	1049	37	1		1	SLCO5A1	8	70585410	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52025	70585410	75778612	9150	11296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70617395A>C	ENST00000260126.3	-	6	2199	c.1493T>G	c.(1492-1494)cTt>cGt	p.L498R	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.L498R|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.L443R	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	498						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													74	321					0	0	1	0	0	C	70617395	A	C	70617395	3	2	22	1	0	0	0	0	1	0	0	0	14786	72	3	3	1073	3	SLCO5A1	8	70617395	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31985	70617395	75746627	9151	11297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744219C>T	ENST00000260126.3	-	2	1396	c.690G>A	c.(688-690)tcG>tcA	p.S230S	SLCO5A1_ENST00000524945.1_Silent_p.S230S|SLCO5A1_ENST00000530307.1_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	230						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													61	250					0	0	1	0	0	T	70744219	C	T	70744219	2	4	22	1	0	0	0	0	0	0	0	1	14786	639	23	1		1	SLCO5A1	8	70744219	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126824	70744219	75619803	9152	11298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744328C>T	ENST00000260126.3	-	2	1287	c.581G>A	c.(580-582)cGg>cAg	p.R194Q	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R194Q|SLCO5A1_ENST00000530307.1_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	194						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													6	271					0	0	1	0	0	T	70744328	C	T	70744328	3	4	22	1	0	0	0	0	1	0	0	0	14786	652	23	1	2001	1	SLCO5A1	8	70744328	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109	70744328	75619694	9153	11299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744437T>C	ENST00000260126.3	-	2	1178	c.472A>G	c.(472-474)Agg>Ggg	p.R158G	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R158G|SLCO5A1_ENST00000530307.1_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	158						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)	6	264					0	0	1	0	0	C	70744437	T	C	70744437	3	2	22	1	0	0	0	0	1	0	0	0	14786	1608	56	3	2110	3	SLCO5A1	8	70744437	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	109	70744437	75619585	9154	11300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744640G>A	ENST00000260126.3	-	2	975	c.269C>T	c.(268-270)gCg>gTg	p.A90V	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.A90V|SLCO5A1_ENST00000530307.1_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	90						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)	56	273					0	0	1	0	0	A	70744640	G	A	70744640	3	1	22	1	0	0	0	0	1	0	0	0	14786	1087	38	1	2313	1	SLCO5A1	8	70744640	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203	70744640	75619382	9155	11301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	318					0	0	1	0	0	T	70978553	C	T	70978553	3	4	22	1	0	0	0	0	1	0	0	0	12507	855	30	2	631	2	PRDM14	8	70978553	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	233913	70978553	75385469	9156	11302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	270					0	0	1	0	0	T	70981662	C	T	70981662	3	4	22	1	0	0	0	0	1	0	0	0	12507	855	30	2	1309	2	PRDM14	8	70981662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3109	70981662	75382360	9157	11303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								9	69					0	0	1	0	0	T	71039253	C	T	71039253	2	4	22	1	0	0	0	0	0	0	0	1	10276	912	32	2		2	NCOA2	8	71039253	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57591	71039253	75324769	9158	11304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								41	187					0	0	1	0	0	G	71041048	A	G	71041048	2	3	22	1	0	0	0	0	0	0	0	1	10276	40	2	3		3	NCOA2	8	71041048	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1795	71041048	75322974	9159	11305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								99	442					0	0	1	0	0	G	71068359	A	G	71068359	2	3	22	1	0	0	0	0	0	0	0	1	10276	108	4	3		3	NCOA2	8	71068359	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27311	71068359	75295663	9160	11306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								36	146					2.42023e-17	2.67004e-17	1	1	0	T	71069403	G	T	71069403	3	4	22	1	0	0	0	0	1	0	0	0	10276	962	34	2	3249	2	NCOA2	8	71069403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1044	71069403	75294619	9161	11307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								4	90					0	0	1	0	0	A	71082518	G	A	71082518	2	1	22	1	0	0	0	0	0	0	0	1	10276	962	34	2		2	NCOA2	8	71082518	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13115	71082518	75281504	9162	11308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71508556C>T	ENST00000521425.1	-	5	1205	c.168_splice	c.e5-1	p.E57_splice	TRAM1_ENST00000536748.1_Splice_Site_p.E112_splice|TRAM1_ENST00000521049.1_Intron|TRAM1_ENST00000262213.2_Splice_Site_p.E143_splice			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													73	313					0	0	1	0	0	T	71508556	C	T	71508556	5	4	22	1	0	0	0	0	0	0	1	0	16512	869	30	2	725	2	TRAM1	8	71508556	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	426038	71508556	74855466	9163	11309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000517601.1_Intron|RP11-382J12.1_ENST00000518553.1_Intron|RP11-382J12.1_ENST00000499227.2_Intron|LACTB2_ENST00000522447.1_Nonsense_Mutation_p.R220*	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													27	131					0	0	1	0	0	A	71553220	G	A	71553220	4	1	22	1	0	0	0	0	0	1	0	0	8637	1066	37	1	220	1	LACTB2	8	71553220	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44664	71553220	74810802	9164	11310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520273.1_3'UTR|XKR9_ENST00000520030.1_Missense_Mutation_p.Q159H	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													15	402					0	0	1	0	0	C	71619372	A	C	71619372	3	2	22	1	0	0	0	0	1	0	0	0	17498	69	3	3	483	3	XKR9	8	71619372	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	66152	71619372	74744650	9165	11311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.S258I	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													42	187					9.9191e-30	1.16027e-29	1	1	0	T	71646310	G	T	71646310	3	4	22	1	0	0	0	0	1	0	0	0	17498	1029	36	2	783	2	XKR9	8	71646310	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26938	71646310	74717712	9166	11312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.G332V	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													14	87					0.000151284	0.000153739	1	1	0	T	71646532	G	T	71646532	3	4	22	1	0	0	0	0	1	0	0	0	17498	1174	41	2	1005	2	XKR9	8	71646532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222	71646532	74717490	9167	11313											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000388740.3_Missense_Mutation_p.R407W|EYA1_ENST00000303824.7_Missense_Mutation_p.R434W|EYA1_ENST00000388741.2_Missense_Mutation_p.R406W|EYA1_ENST00000419131.1_Missense_Mutation_p.R405W|EYA1_ENST00000388742.4_Missense_Mutation_p.R440W|EYA1_ENST00000388743.2_Missense_Mutation_p.R439W	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													102	393					0	0	1	0	0	A	72128969	G	A	72128969	3	1	22	1	0	0	0	0	1	0	0	0	5356	1144	40	1	480	1	EYA1	8	72128969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	482437	72128969	74235053	9168	11314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000388740.3_Silent_p.G268G|EYA1_ENST00000303824.7_Silent_p.G295G|EYA1_ENST00000388741.2_Silent_p.G267G|EYA1_ENST00000419131.1_Silent_p.G296G|EYA1_ENST00000388742.4_Silent_p.G301G|EYA1_ENST00000388743.2_Silent_p.G300G	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													175	795					0	0	1	0	0	T	72184056	C	T	72184056	2	4	22	1	0	0	0	0	0	0	0	1	5356	842	30	2		2	EYA1	8	72184056	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55087	72184056	74179966	9169	11315											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000388740.3_Missense_Mutation_p.S259Y|EYA1_ENST00000303824.7_Missense_Mutation_p.S286Y|EYA1_ENST00000388741.2_Missense_Mutation_p.S258Y|EYA1_ENST00000419131.1_Missense_Mutation_p.S287Y|EYA1_ENST00000388742.4_Missense_Mutation_p.S292Y|EYA1_ENST00000388743.2_Missense_Mutation_p.S291Y	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													214	989					1.52386e-66	1.92882e-66	1	1	0	T	72184084	G	T	72184084	3	4	22	1	0	0	0	0	1	0	0	0	5356	942	33	2	939	2	EYA1	8	72184084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28	72184084	74179938	9170	11316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'UTR	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													76	1344					1.81118e-26	2.08805e-26	1	1	0	A	72754977	C	A	72754977	3	1	22	1	0	0	0	0	1	0	0	0	9917	740	26	2	84	2	MSC	8	72754977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	570893	72754977	73609045	9171	11317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Silent_p.H84H|RP11-383H13.1_ENST00000524152.1_5'UTR	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)	54	284					0	0	1	0	0	T	72755888	C	T	72755888	3	4	22	1	0	0	0	0	1	0	0	0	9917	565	20	2	102	2	MSC	8	72755888	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	911	72755888	73608134	9172	11318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_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)	12	66					0	0	1	0	0	A	72756150	G	A	72756150	2	1	22	1	0	0	0	0	0	0	0	1	9917	1074	38	1		1	MSC	8	72756150	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262	72756150	73607872	9173	11319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	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													7	72					0	0	1	0	0	A	72950237	G	A	72950237	3	1	22	1	0	0	0	0	1	0	0	0	16638	1087	38	1	1025	1	TRPA1	8	72950237	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194087	72950237	73413785	9174	11320											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	652					0	0	1	0	0	A	73480440	G	A	73480440	2	1	22	1	0	0	0	0	0	0	0	1	8057	933	33	2		2	KCNB2	8	73480440	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	530203	73480440	72883582	9175	11321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													140	689					0	0	1	0	0	G	73848612	T	G	73848612	3	3	22	1	0	0	0	0	1	0	0	0	8057	1841	64	3	1028	3	KCNB2	8	73848612	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	368172	73848612	72515410	9176	11322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	327					0	0	1	0	0	T	73848830	C	T	73848830	3	4	22	1	0	0	0	0	1	0	0	0	8057	623	22	2	1246	2	KCNB2	8	73848830	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218	73848830	72515192	9177	11323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	129					0	0	1	0	0	A	74209428	G	A	74209428	1	1	22	1	0	0	0	0	0	0	0	0	13241	985	34	2		2	RDH10	8	74209428	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	360598	74209428	72154594	9178	11324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RDH10_ENST00000519380.1_Missense_Mutation_p.P97H|RP11-434I12.2_ENST00000517475.1_RNA|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													51	281					1.32667e-27	1.53764e-27	1	1	0	A	74234928	C	A	74234928	3	1	22	1	0	0	0	0	1	0	0	0	13241	681	24	2	803	2	RDH10	8	74234928	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25500	74234928	72129094	9179	11325											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RDH10_ENST00000519380.1_Missense_Mutation_p.P120L|RP11-434I12.2_ENST00000517475.1_RNA|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													64	330					0	0	1	0	0	T	74234997	C	T	74234997	3	4	22	1	0	0	0	0	1	0	0	0	13241	623	22	2	872	2	RDH10	8	74234997	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69	74234997	72129025	9180	11326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000602840.1_Intron|TCEB1_ENST00000284811.8_Missense_Mutation_p.A53V|TCEB1_ENST00000523815.1_Missense_Mutation_p.A53V|TCEB1_ENST00000522337.1_Missense_Mutation_p.A53V|TCEB1_ENST00000520242.1_Missense_Mutation_p.A53V|TCEB1_ENST00000519487.1_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													26	167					0	0	1	0	0	A	74859046	G	A	74859046	3	1	22	1	0	0	0	0	1	0	0	0	15739	971	34	2	184	2	TCEB1	8	74859046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	624049	74859046	71504976	9181	11327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056179.3	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													48	236					1.00776e-21	1.13667e-21	1	1	0	T	74922249	G	T	74922249	3	4	22	1	0	0	0	0	1	0	0	0	9148	962	34	2	226	2	LY96	8	74922249	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63203	74922249	71441773	9182	11328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	476					0	0	1	0	0	T	75227606	C	T	75227606	3	4	22	1	0	0	0	0	1	0	0	0	8004	739	26	2	1372	2	JPH1	8	75227606	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	305357	75227606	71136416	9183	11329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Missense_Mutation_p.R198I	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													8	404					0.000157383	0.000159814	1	1	0	T	75276322	G	T	75276322	3	4	22	1	0	0	0	0	1	0	0	0	6348	942	33	2	819	2	GDAP1	8	75276322	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48716	75276322	71087700	9184	11330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PI15_ENST00000523773.1_Silent_p.G122G|RP11-758M4.4_ENST00000523860.1_RNA|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													146	807					0	0	1	0	0	T	75756308	C	T	75756308	2	4	22	1	0	0	0	0	0	0	0	1	11916	726	26	2		2	PI15	8	75756308	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	479986	75756308	70607714	9185	11331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													189	869					0	0	1	0	0	T	75898234	C	T	75898234	2	4	22	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	9186	11332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	440					0	0	1	0	0	G	76452232	A	G	76452232	3	3	22	1	0	0	0	0	1	0	0	0	7295	275	10	3	7	3	HNF4G	8	76452232	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	553998	76452232	69911790	9187	11333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	323					7.07328e-35	8.4269e-35	1	1	0	A	76465367	C	A	76465367	3	1	22	1	0	0	0	0	1	0	0	0	7295	797	28	2	568	2	HNF4G	8	76465367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13135	76465367	69898655	9188	11334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000050961.6_Missense_Mutation_p.P101H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P101H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_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)			147	678					2.7625e-60	3.47358e-60	1	1	0	A	77616625	C	A	77616625	3	1	22	1	0	0	0	0	1	0	0	0	17693	681	24	2	304	2	ZFHX4	8	77616625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1151258	77616625	68747397	9189	11335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000050961.6_Missense_Mutation_p.Q657H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q657H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_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)			7	232					5.18039e-06	5.32547e-06	1	1	0	T	77618294	G	T	77618294	3	4	22	1	0	0	0	0	1	0	0	0	17693	933	33	2	1973	2	ZFHX4	8	77618294	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1669	77618294	68745728	9190	11336											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000050961.6_Silent_p.N808N|ZFHX4_ENST00000518282.1_Silent_p.N808N|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_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)			16	85					0	0	1	0	0	C	77618747	T	C	77618747	2	2	22	1	0	0	0	0	0	0	0	1	17693	1432	50	3		3	ZFHX4	8	77618747	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	453	77618747	68745275	9191	11337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000050961.6_Silent_p.A1255A|ZFHX4_ENST00000518282.1_Silent_p.A1274A|ZFHX4_ENST00000455469.2_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)			20	92					1.10923e-09	1.16946e-09	1	1	0	A	77762534	C	A	77762534	2	1	22	1	0	0	0	0	0	0	0	1	17693	668	24	2		2	ZFHX4	8	77762534	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143787	77762534	68601488	9192	11338											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000050961.6_Missense_Mutation_p.L1406M|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1425M|ZFHX4_ENST00000455469.2_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)			29	107					3.99451e-17	4.40333e-17	1	1	0	A	77763508	C	A	77763508	3	1	22	1	0	0	0	0	1	0	0	0	17693	564	20	2	4385	2	ZFHX4	8	77763508	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	974	77763508	68600514	9193	11339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000050961.6_Missense_Mutation_p.H1619Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1638Q|ZFHX4_ENST00000455469.2_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)			40	350					0	0	1	0	0	A	77764149	T	A	77764149	3	1	22	1	0	0	0	0	1	0	0	0	17693	1490	52	5	5026	5	ZFHX4	8	77764149	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	641	77764149	68599873	9194	11340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000050961.6_Missense_Mutation_p.A1864D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1883D|ZFHX4_ENST00000455469.2_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)			18	92					1.02788e-11	1.09837e-11	1	1	0	A	77764883	C	A	77764883	3	1	22	1	0	0	0	0	1	0	0	0	17693	739	26	2	5760	2	ZFHX4	8	77764883	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	734	77764883	68599139	9195	11341											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000050961.6_Missense_Mutation_p.L2507M|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2526M|ZFHX4_ENST00000455469.2_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)			13	479					4.3838e-07	4.54049e-07	1	1	0	A	77766811	C	A	77766811	3	1	22	1	0	0	0	0	1	0	0	0	17693	796	28	2	7688	2	ZFHX4	8	77766811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1928	77766811	68597211	9196	11342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000050961.6_Missense_Mutation_p.R2926C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2945C|ZFHX4_ENST00000455469.2_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)			25	171					0	0	1	0	0	T	77768068	C	T	77768068	3	4	22	1	0	0	0	0	1	0	0	0	17693	536	19	1	8945	1	ZFHX4	8	77768068	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1257	77768068	68595954	9197	11343											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520269.1_Missense_Mutation_p.H70R|IL7_ENST00000541183.1_Missense_Mutation_p.H19R|IL7_ENST00000519833.1_5'UTR	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													21	87					0	0	1	0	0	C	79652256	T	C	79652256	3	2	22	1	0	0	0	0	1	0	0	0	7748	1464	51	3	340	3	IL7	8	79652256	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1884188	79652256	66711766	9198	11344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	349					0	0	1	0	0	T	80549083	C	T	80549083	2	4	22	1	0	0	0	0	0	0	0	1	15365	805	28	2		2	STMN2	8	80549083	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	896827	80549083	65814939	9199	11345											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	48	420					0	0	1	0	0	A	81599496	G	A	81599496	2	1	22	1	0	0	0	0	0	0	0	1	18163	991	35	2		2	ZNF704	8	81599496	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1050413	81599496	64764526	9200	11346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	363					1.26458e-31	1.48988e-31	1	1	0	T	81889134	G	T	81889134	3	4	22	1	0	0	0	0	1	0	0	0	11435	971	34	2	358	2	PAG1	8	81889134	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	289638	81889134	64474888	9201	11347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	267					5.50884e-06	5.65664e-06	1	1	0	T	82370890	G	T	82370890	3	4	22	1	0	0	0	0	1	0	0	0	5394	971	34	2	110	2	FABP9	8	82370890	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	481756	82370890	63993132	9202	11348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FABP4_ENST00000518669.1_5'UTR|RP11-157I4.4_ENST00000524085.2_RNA	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													50	263					1.39843e-22	1.58406e-22	1	1	0	A	82391667	C	A	82391667	3	1	22	1	0	0	0	0	1	0	0	0	5390	680	24	2	76	2	FABP4	8	82391667	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20777	82391667	63972355	9203	11349											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	247					0	0	1	0	0	G	82606167	A	G	82606167	2	3	22	1	0	0	0	0	0	0	0	1	14432	30	2	3		3	SLC10A5	8	82606167	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	214500	82606167	63757855	9204	11350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	303					0	0	1	0	0	C	82606769	T	C	82606769	3	2	22	1	0	0	0	0	1	0	0	0	14432	1406	49	3	879	3	SLC10A5	8	82606769	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	602	82606769	63757253	9205	11351											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	345					0	0	1	0	0	G	82606840	A	G	82606840	3	3	22	1	0	0	0	0	1	0	0	0	14432	275	10	3	950	3	SLC10A5	8	82606840	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	71	82606840	63757182	9206	11352											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	196					0	0	1	0	0	A	82714673	G	A	82714673	2	1	22	1	0	0	0	0	0	0	0	1	14941	991	35	2		2	SNX16	8	82714673	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107833	82714673	63649349	9207	11353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	426					7.74691e-53	9.64371e-53	1	1	0	A	86042165	C	A	86042165	2	1	22	1	0	0	0	0	0	0	0	1	9071	845	30	2		2	LRRCC1	8	86042165	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3327492	86042165	60321857	9208	11354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	463					0	0	1	0	0	A	86042196	G	A	86042196	3	1	22	1	0	0	0	0	1	0	0	0	9071	1058	37	1	1711	1	LRRCC1	8	86042196	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31	86042196	60321826	9209	11355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000517476.1_5'UTR|E2F5_ENST00000416274.2_Silent_p.A135A|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000256117.5_Silent_p.A135A			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													13	96					0	0	1	0	0	C	86115389	T	C	86115389	2	2	22	1	0	0	0	0	0	0	0	1	4896	1567	55	3		3	E2F5	8	86115389	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	73193	86115389	60248633	9210	11356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000517476.1_Missense_Mutation_p.S4Y|E2F5_ENST00000416274.2_Missense_Mutation_p.S165Y|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.S165Y			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													23	95					7.87624e-14	8.52853e-14	1	1	0	A	86115478	C	A	86115478	3	1	22	1	0	0	0	0	1	0	0	0	4896	855	30	2	504	2	E2F5	8	86115478	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89	86115478	60248544	9211	11357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000517476.1_Missense_Mutation_p.P77H|E2F5_ENST00000416274.2_Missense_Mutation_p.P238H|E2F5_ENST00000521429.1_Missense_Mutation_p.P65H|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.P239H			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													39	246					5.43694e-19	6.05247e-19	1	1	0	A	86121474	C	A	86121474	3	1	22	1	0	0	0	0	1	0	0	0	4896	623	22	2	735	2	E2F5	8	86121474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5996	86121474	60242548	9212	11358											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000517476.1_Missense_Mutation_p.T89A|E2F5_ENST00000416274.2_Missense_Mutation_p.T250A|E2F5_ENST00000521429.1_Missense_Mutation_p.T77A|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.T251A			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													36	235					0	0	1	0	0	G	86121509	A	G	86121509	3	3	22	1	0	0	0	0	1	0	0	0	4896	159	6	3	770	3	E2F5	8	86121509	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35	86121509	60242513	9213	11359											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000458398.2_Missense_Mutation_p.A53S|C8orf59_ENST00000524353.1_Missense_Mutation_p.A53S|E2F5_ENST00000519128.1_3'UTR|C8orf59_ENST00000421308.2_Missense_Mutation_p.A53S|C8orf59_ENST00000518562.1_Intron	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1	Q8N0T1	CH059_HUMAN	chromosome 8 open reading frame 59	53																	TTTACAAAAGCTTTATTTACT	0.279													6	48					0.0293803	0.0294705	1	1	0	A	86127224	C	A	86127224	3	1	22	1	0	0	0	0	1	0	0	0	2452	797	28	2	147	2	C8orf59	8	86127224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5715	86127224	60236798	9214	11360											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	288					3.8128e-34	4.53067e-34	1	1	0	A	86352068	C	A	86352068	2	1	22	1	0	0	0	0	0	0	0	1	2535	784	28	2		2	CA3	8	86352068	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	224844	86352068	60011954	9215	11361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Silent_p.S302S	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													109	568					0	0	1	0	0	T	87229945	C	T	87229945	2	4	22	1	0	0	0	0	0	0	0	1	14750	871	31	1		1	SLC7A13	8	87229945	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	877877	87229945	59134077	9216	11362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.G4R	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													25	311					0	0	1	0	0	T	87242497	C	T	87242497	3	4	22	1	0	0	0	0	1	0	0	0	14750	681	24	2	1418	2	SLC7A13	8	87242497	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12552	87242497	59121525	9217	11363											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000265428.4_Missense_Mutation_p.K63Q|WWP1_ENST00000349423.2_Intron|WWP1_ENST00000341922.2_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													28	125					0	0	1	0	0	C	87393071	A	C	87393071	3	2	22	1	0	0	0	0	1	0	0	0	17475	15	1	3	193	3	WWP1	8	87393071	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	150574	87393071	58970951	9218	11364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	341					1.6246e-59	2.04043e-59	1	1	0	T	87549859	G	T	87549859	3	4	22	1	0	0	0	0	1	0	0	0	3836	1348	47	2	546	2	CPNE3	8	87549859	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156788	87549859	58814163	9219	11365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	670					0	0	1	0	0	A	88885634	G	A	88885634	3	1	22	1	0	0	0	0	1	0	0	0	4296	1203	42	2	625	2	DCAF4L2	8	88885634	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1335775	88885634	57478388	9220	11366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	397					9.35569e-46	1.14784e-45	1	1	0	T	88885789	G	T	88885789	3	4	22	1	0	0	0	0	1	0	0	0	4296	1020	36	2	780	2	DCAF4L2	8	88885789	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155	88885789	57478233	9221	11367											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	151					0	0	1	0	0	G	89054008	T	G	89054008	3	3	22	1	0	0	0	0	1	0	0	0	9703	1638	57	3	322	3	MMP16	8	89054008	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	168219	89054008	57310014	9222	11368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	459					0	0	1	0	0	T	90936852	C	T	90936852	3	4	22	1	0	0	0	0	1	0	0	0	11337	565	20	2	764	2	OSGIN2	8	90936852	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1882844	90936852	55427170	9223	11369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					5	91					0.014758	0.0148251	1	1	0	A	90965920	C	A	90965920	5	1	22	1	0	0	0	0	0	0	1	0	10239	695	24	2	891	2	NBN	8	90965920	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29068	90965920	55398102	9224	11370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000519007.1_3'UTR|DECR1_ENST00000220764.2_Missense_Mutation_p.V175M			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													59	216					0	0	1	0	0	A	91033242	G	A	91033242	3	1	22	1	0	0	0	0	1	0	0	0	4405	1145	40	1	541	1	DECR1	8	91033242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67322	91033242	55330780	9225	11371											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	198					0	0	1	0	0	A	91637980	G	A	91637980	2	1	22	1	0	0	0	0	0	0	0	1	16253	1306	46	2		2	TMEM64	8	91637980	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	604738	91637980	54726042	9226	11372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	61	347					0	0	1	0	0	T	91657382	C	T	91657382	3	4	22	1	0	0	0	0	1	0	0	0	16253	913	32	2	402	2	TMEM64	8	91657382	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19402	91657382	54706640	9227	11373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	62	267					0	0	1	0	0	C	91657411	T	C	91657411	2	2	22	1	0	0	0	0	0	0	0	1	16253	1770	62	3		3	TMEM64	8	91657411	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29	91657411	54706611	9228	11374											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	271					0	0	1	0	0	A	92033488	G	A	92033488	3	1	22	1	0	0	0	0	1	0	0	0	16241	971	34	2	546	2	TMEM55A	8	92033488	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	376077	92033488	54330534	9229	11375											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000309536.2_Missense_Mutation_p.I267S|SLC26A7_ENST00000523719.1_Missense_Mutation_p.I267S	NM_052832.2	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													63	246					0	0	1	0	0	G	92350382	T	G	92350382	3	3	22	1	0	0	0	0	1	0	0	0	14577	1493	52	3	822	3	SLC26A7	8	92350382	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	316894	92350382	54013640	9230	11376											
RUNX1T1	862	broad.mit.edu	37	chr8	92998419	92998419	+	Frame_Shift_Del	DEL	T	T	-													ctgctgctactgccgccaccTttttttaagtcctcggcgtc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:92998419delT	ENST00000523629.1	-	9	1666	c.1212delA	c.(1210-1212)aafs	p.K404fs	RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs	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)	404					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)			TGCCGCCACCTTTTTTTAAGT	0.517													7	734	---	---	---	---						-	92998419	T	-	92998419	7	5	22	1	0	1	0	1	0	0	0	0	13799	1606	56	0	618	0	RUNX1T1	8	92998419	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	648037	92998419	53365603	9231	11377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000423990.2_Nonsense_Mutation_p.R84*|FAM92A1_ENST00000522324.1_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													21	86					0	0	1	0	0	T	94713675	C	T	94713675	4	4	22	1	0	0	0	0	0	1	0	0	5685	876	31	1	256	1	FAM92A1	8	94713675	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1715256	94713675	51650347	9232	11378											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	423					0	0	1	0	0	T	94800075	C	T	94800075	2	4	22	1	0	0	0	0	0	0	0	1	16256	842	30	2		2	TMEM67	8	94800075	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86400	94800075	51563947	9233	11379											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000517764.1_Missense_Mutation_p.A239S|PDP1_ENST00000297598.4_Missense_Mutation_p.A239S|PDP1_ENST00000520728.1_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													107	420					3.77761e-39	4.56358e-39	1	1	0	T	94935002	G	T	94935002	3	4	22	1	0	0	0	0	1	0	0	0	11732	1319	46	2	898	2	PDP1	8	94935002	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134927	94935002	51429020	9234	11380											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000517764.1_Silent_p.A532A|PDP1_ENST00000297598.4_Silent_p.A532A|PDP1_ENST00000520728.1_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													72	335					0	0	1	0	0	A	94935883	G	A	94935883	2	1	22	1	0	0	0	0	0	0	0	1	11732	1132	40	1		1	PDP1	8	94935883	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	881	94935883	51428139	9235	11381											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	534					0	0	1	0	0	G	95182635	A	G	95182635	2	3	22	1	0	0	0	0	0	0	0	1	3124	214	8	3		3	CDH17	8	95182635	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	246752	95182635	51181387	9236	11382											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	488					9.86815e-39	1.19053e-38	1	1	0	A	95189834	C	A	95189834	3	1	22	1	0	0	0	0	1	0	0	0	3124	913	32	2	2292	2	CDH17	8	95189834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7199	95189834	51174188	9237	11383											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					26	134					0	0	1	0	0	A	95390544	G	A	95390544	2	1	22	1	0	0	0	0	0	0	0	1	13044	1045	37	1		1	RAD54B	8	95390544	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200710	95390544	50973478	9238	11384											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	477					0	0	1	0	0	T	95802019	C	T	95802019	4	4	22	1	0	0	0	0	0	1	0	0	4769	760	27	1	2127	1	DPY19L4	8	95802019	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	411475	95802019	50562003	9239	11385											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.A630V	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													89	392					0	0	1	0	0	T	95869141	C	T	95869141	3	4	22	1	0	0	0	0	1	0	0	0	7828	710	25	2	1947	2	INTS8	8	95869141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67122	95869141	50494881	9240	11386											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.R656H	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													40	211					0	0	1	0	0	A	95871751	G	A	95871751	3	1	22	1	0	0	0	0	1	0	0	0	7828	1145	40	1	2029	1	INTS8	8	95871751	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2610	95871751	50492271	9241	11387											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	185					0	0	1	0	0	G	95900214	T	G	95900214	3	3	22	1	0	0	0	0	1	0	0	0	2943	1841	64	3	697	3	CCNE2	8	95900214	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28463	95900214	50463808	9242	11388											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518406.1_Missense_Mutation_p.E40K|UQCRB_ENST00000517523.1_Missense_Mutation_p.E8K|UQCRB_ENST00000523920.1_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													45	250					0	0	1	0	0	T	97244142	C	T	97244142	3	4	22	1	0	0	0	0	1	0	0	0	17078	893	31	1	225	1	UQCRB	8	97244142	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1343928	97244142	49119880	9243	11389											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	393					0	0	1	0	0	T	97296348	C	T	97296348	4	4	22	1	0	0	0	0	0	1	0	0	12785	876	31	1	293	1	PTDSS1	8	97296348	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52206	97296348	49067674	9244	11390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	81					0	0	1	0	0	A	98289747	G	A	98289747	3	1	22	1	0	0	0	0	1	0	0	0	16723	1203	42	2	931	2	TSPYL5	8	98289747	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	993399	98289747	48074275	9245	11391											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	255					0	0	1	0	0	A	98827618	G	A	98827618	3	1	22	1	0	0	0	0	1	0	0	0	8664	1117	39	1	557	1	LAPTM4B	8	98827618	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	537871	98827618	47536404	9246	11392											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520016.1_Silent_p.C590C|MATN2_ENST00000524308.1_Silent_p.C549C|MATN2_ENST00000522025.2_Silent_p.C306C|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													172	768					0	0	1	0	0	T	99030295	C	T	99030295	2	4	22	1	0	0	0	0	0	0	0	1	9384	776	27	1		1	MATN2	8	99030295	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202677	99030295	47333727	9247	11393											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520016.1_Missense_Mutation_p.N713S|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000524308.1_Missense_Mutation_p.N672S|MATN2_ENST00000522025.2_Missense_Mutation_p.N429S|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													44	177					0	0	1	0	0	G	99039839	A	G	99039839	3	3	22	1	0	0	0	0	1	0	0	0	9384	43	2	3	2188	3	MATN2	8	99039839	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9544	99039839	47324183	9248	11394											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	268					0	0	1	0	0	A	99142303	G	A	99142303	3	1	22	1	0	0	0	0	1	0	0	0	12299	942	33	2	598	2	POP1	8	99142303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102464	99142303	47221719	9249	11395											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520545.1_5'UTR|NIPAL2_ENST00000430223.2_Silent_p.L318L	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													19	98					0	0	1	0	0	A	99207043	G	A	99207043	2	1	22	1	0	0	0	0	0	0	0	1	10472	933	33	2		2	NIPAL2	8	99207043	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64740	99207043	47156979	9250	11396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	291					0	0	1	0	0	A	99440776	G	A	99440776	3	1	22	1	0	0	0	0	1	0	0	0	8133	971	34	2	571	2	KCNS2	8	99440776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	233733	99440776	46923246	9251	11397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000435298.2_Silent_p.I147I|OSR2_ENST00000457907.2_Silent_p.I268I|OSR2_ENST00000522510.1_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													31	855					1.75199e-13	1.89187e-13	1	1	0	A	99961621	C	A	99961621	2	1	22	1	0	0	0	0	0	0	0	1	11341	903	32	2		2	OSR2	8	99961621	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	520845	99961621	46402401	9252	11398											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	161					0	0	1	0	0	T	100147882	C	T	100147882	3	4	22	1	0	0	0	0	1	0	0	0	17250	478	17	2	1564	2	VPS13B	8	100147882	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186261	100147882	46216140	9253	11399											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	499					0	0	1	0	0	A	100286495	G	A	100286495	3	1	22	1	0	0	0	0	1	0	0	0	17250	971	34	2	2774	2	VPS13B	8	100286495	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138613	100286495	46077527	9254	11400											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	409					0	0	1	0	0	A	100454751	G	A	100454751	2	1	22	1	0	0	0	0	0	0	0	1	17250	1103	39	1		1	VPS13B	8	100454751	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168256	100454751	45909271	9255	11401											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.D1415N	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													68	342					0	0	1	0	0	A	100523350	G	A	100523350	3	1	22	1	0	0	0	0	1	0	0	0	17250	942	33	2	4622	2	VPS13B	8	100523350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68599	100523350	45840672	9256	11402											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.R1653Q	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													46	210					0	0	1	0	0	A	100587894	G	A	100587894	3	1	22	1	0	0	0	0	1	0	0	0	17250	1116	39	1	5349	1	VPS13B	8	100587894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64544	100587894	45776128	9257	11403											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L2436M	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													65	612					1.53134e-21	1.72607e-21	1	1	0	A	100789061	C	A	100789061	3	1	22	1	0	0	0	0	1	0	0	0	17250	680	24	2	7733	2	VPS13B	8	100789061	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	201167	100789061	45574961	9258	11404											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	430					0	0	1	0	0	T	101146101	C	T	101146101	3	4	22	1	0	0	0	0	1	0	0	0	5785	797	28	2	74	2	FBXO43	8	101146101	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	357040	101146101	45217921	9259	11405											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520643.1_Missense_Mutation_p.S136N|SPAG1_ENST00000520508.1_Missense_Mutation_p.S136N|SPAG1_ENST00000251809.3_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													30	327					0	0	1	0	0	A	101190150	G	A	101190150	3	1	22	1	0	0	0	0	1	0	0	0	15031	971	34	2	417	2	SPAG1	8	101190150	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44049	101190150	45173872	9260	11406											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520643.1_Missense_Mutation_p.S189P|SPAG1_ENST00000520508.1_Missense_Mutation_p.S189P|SPAG1_ENST00000251809.3_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													37	147					0	0	1	0	0	C	101196260	T	C	101196260	3	2	22	1	0	0	0	0	1	0	0	0	15031	1667	58	3	583	3	SPAG1	8	101196260	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6110	101196260	45167762	9261	11407											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_015435.3	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)	124	506					0	0	1	0	0	T	101271380	C	T	101271380	3	4	22	1	0	0	0	0	1	0	0	0	13522	710	25	2	599	2	RNF19A	8	101271380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75120	101271380	45092642	9262	11408											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000519597.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000519316.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000335659.3_Missense_Mutation_p.L31F|ANKRD46_ENST00000520552.1_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													54	299					0	0	1	0	0	A	101541971	G	A	101541971	3	1	22	1	0	0	0	0	1	0	0	0	668	971	34	2	607	2	ANKRD46	8	101541971	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270591	101541971	44822051	9263	11409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428383.2_Missense_Mutation_p.V213I|SNX31_ENST00000519521.1_5'UTR	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													51	435					0	0	1	0	0	T	101608911	C	T	101608911	3	4	22	1	0	0	0	0	1	0	0	0	14955	536	19	1	408	1	SNX31	8	101608911	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66940	101608911	44755111	9264	11410											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	235					1.06522e-23	1.21267e-23	1	1	0	T	101624274	G	T	101624274	3	4	22	1	0	0	0	0	1	0	0	0	14955	942	33	2	789	2	SNX31	8	101624274	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15363	101624274	44739748	9265	11411											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	218					0	0	1	0	0	C	102585977	A	C	102585977	3	2	22	1	0	0	0	0	1	0	0	0	6805	69	3	3	838	3	GRHL2	8	102585977	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	961703	102585977	43778045	9266	11412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	143					0	0	1	0	0	A	102589658	G	A	102589658	3	1	22	1	0	0	0	0	1	0	0	0	6805	1029	36	2	940	2	GRHL2	8	102589658	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3681	102589658	43774364	9267	11413											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	158					0	0	1	0	0	A	102611284	G	A	102611284	5	1	22	1	0	0	0	0	0	0	1	0	6805	985	34	2	1033	2	GRHL2	8	102611284	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21626	102611284	43752738	9268	11414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000521599.1_Missense_Mutation_p.R9C|NCALD_ENST00000519508.2_Missense_Mutation_p.R9C|NCALD_ENST00000220931.6_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													69	343					0	0	1	0	0	A	102731833	G	A	102731833	3	1	22	1	0	0	0	0	1	0	0	0	10248	1087	38	1	568	1	NCALD	8	102731833	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120549	102731833	43632189	9269	11415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000519962.1_Intron|RRM2B_ENST00000395912.2_Missense_Mutation_p.A137V|RRM2B_ENST00000519317.1_Intron	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					139	668					0	0	1	0	0	A	103231160	G	A	103231160	3	1	22	1	0	0	0	0	1	0	0	0	13735	1203	42	2	505	2	RRM2B	8	103231160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	499327	103231160	43132862	9270	11416											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000220959.4_Missense_Mutation_p.V2773I|UBR5_ENST00000518205.1_Missense_Mutation_p.V502I|UBR5_ENST00000521922.1_Missense_Mutation_p.V2767I	NM_015902.5	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													49	175					0	0	1	0	0	T	103266610	C	T	103266610	3	4	22	1	0	0	0	0	1	0	0	0	16966	536	19	1	83	1	UBR5	8	103266610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35450	103266610	43097412	9271	11417											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000220959.4_Missense_Mutation_p.P2572H|UBR5_ENST00000518205.1_Missense_Mutation_p.P301H|UBR5_ENST00000521922.1_Missense_Mutation_p.P2566H	NM_015902.5	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													64	271					7.75977e-34	9.21251e-34	1	1	0	T	103274267	G	T	103274267	3	4	22	1	0	0	0	0	1	0	0	0	16966	1000	35	2	701	2	UBR5	8	103274267	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7657	103274267	43089755	9272	11418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000220959.4_Missense_Mutation_p.R1257H|UBR5_ENST00000521922.1_Missense_Mutation_p.R1251H	NM_015902.5	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													11	214					0	0	1	0	0	T	103307906	C	T	103307906	3	4	22	1	0	0	0	0	1	0	0	0	16966	768	27	1	4753	1	UBR5	8	103307906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33639	103307906	43056116	9273	11419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000220959.4_Missense_Mutation_p.P498L|UBR5_ENST00000521922.1_Missense_Mutation_p.P492L	NM_015902.5	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													28	178					0	0	1	0	0	A	103338880	G	A	103338880	3	1	22	1	0	0	0	0	1	0	0	0	16966	1000	35	2	7094	2	UBR5	8	103338880	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30974	103338880	43025142	9274	11420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000220959.4_Missense_Mutation_p.S276I|UBR5_ENST00000521922.1_Missense_Mutation_p.S276I	NM_015902.5	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													26	121					1.85244e-09	1.95034e-09	1	1	0	A	103357683	C	A	103357683	3	1	22	1	0	0	0	0	1	0	0	0	16966	797	28	2	7780	2	UBR5	8	103357683	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18803	103357683	43006339	9275	11421											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	470					1.76403e-45	2.16332e-45	1	1	0	A	103564019	C	A	103564019	3	1	22	1	0	0	0	0	1	0	0	0	10874	564	20	2	66	2	ODF1	8	103564019	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206336	103564019	42800003	9276	11422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	235					5.22555e-25	5.98653e-25	1	1	0	T	103564276	G	T	103564276	5	4	22	1	0	0	0	0	0	0	1	0	10874	1043	36	2	323	2	ODF1	8	103564276	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	257	103564276	42799746	9277	11423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	397					0	0	1	0	0	C	103663511	A	C	103663511	3	2	22	1	0	0	0	0	1	0	0	0	8381	14	1	3	401	3	KLF10	8	103663511	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	99235	103663511	42700511	9278	11424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	167					0	0	1	0	0	A	103667818	G	A	103667818	2	1	22	1	0	0	0	0	0	0	0	1	8381	1049	37	1		1	KLF10	8	103667818	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4307	103667818	42696204	9279	11425											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	287					0	0	1	0	0	A	103845355	G	A	103845355	3	1	22	1	0	0	0	0	1	0	0	0	1240	942	33	2	529	2	AZIN1	8	103845355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177537	103845355	42518667	9280	11426											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	BAALC_ENST00000438105.2_Intron|RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000297574.6_Missense_Mutation_p.G131D|RP11-318M2.2_ENST00000523614.2_RNA	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													111	466					0	0	1	0	0	A	104225273	G	A	104225273	3	1	22	1	0	0	0	0	1	0	0	0	1277	1203	42	2	293	2	BAALC	8	104225273	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	379918	104225273	42138749	9281	11427											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000522566.1_Silent_p.G662G|FZD6_ENST00000523739.1_Silent_p.G630G|FZD6_ENST00000540287.1_Silent_p.G357G	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													21	643					2.39556e-15	2.61601e-15	1	1	0	A	104343602	C	A	104343602	2	1	22	1	0	0	0	0	0	0	0	1	6169	726	26	2		2	FZD6	8	104343602	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118329	104343602	42020420	9282	11428											
FZD6	8323	broad.mit.edu	37	chr8	104343656	104343657	+	Frame_Shift_Ins	INS	-	-	A													cttcagaaccaagcagcctcINSaaaggttccacatctctgct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104343656_104343657insA	ENST00000358755.4	+	7	2357_2358	c.2040_2041insA	c.(2038-2043)ctaaggfs	p.R681fs	FZD6_ENST00000540287.1_Frame_Shift_Ins_p.R376fs|FZD6_ENST00000523739.1_Frame_Shift_Ins_p.R649fs|FZD6_ENST00000522566.1_Frame_Shift_Ins_p.R681fs	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	681					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)			CAAGCAGCCTCAAAGGTTCCAC	0.45													118	450	---	---	---	---						A	104343657	-	A	104343656	7	5	22	1	0	1	1	0	0	0	0	0	6169	813	29	0	2062	0	FZD6	8	104343656	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	54	104343656	42020366	9283	11429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104387965G>A	ENST00000330295.5	+	2	292		c.e2-1		CTHRC1_ENST00000415886.2_Splice_Site|CTHRC1_ENST00000520337.1_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													108	548					0	0	1	0	0	A	104387965	G	A	104387965	5	1	22	1	0	0	0	0	0	0	1	0	4034	1043	36	2	156	2	CTHRC1	8	104387965	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44309	104387965	41976057	9284	11430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000521971.1_Nonsense_Mutation_p.R48*|DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000519682.1_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													13	183					0	0	1	0	0	T	104432575	C	T	104432575	4	4	22	1	0	0	0	0	0	1	0	0	4290	528	19	1	616	1	DCAF13	8	104432575	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44610	104432575	41931447	9285	11431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	452					0	0	1	0	0	T	104453770	C	T	104453770	3	4	22	1	0	0	0	0	1	0	0	0	4290	884	31	1	1668	1	DCAF13	8	104453770	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21195	104453770	41910252	9286	11432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Missense_Mutation_p.R294K|RIMS2_ENST00000436393.2_Missense_Mutation_p.R72K|RIMS2_ENST00000262231.10_Missense_Mutation_p.R102K	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)			44	325					0	0	1	0	0	A	104897708	G	A	104897708	3	1	22	1	0	0	0	0	1	0	0	0	13420	1000	35	2	1021	2	RIMS2	8	104897708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	443938	104897708	41466314	9287	11433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104922756A>C	ENST00000262231.10	+	3	1504	c.1257_splice	c.e3+1	p.K419_splice	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000507740.1_Intron			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)			14	137					0	0	1	0	0	C	104922756	A	C	104922756	5	2	22	1	0	0	0	0	0	0	1	0	13420	87	3	3		3	RIMS2	8	104922756	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25048	104922756	41441266	9288	11434											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	215					4.7546e-09	4.99022e-09	1	1	0	A	105456654	C	A	105456654	3	1	22	1	0	0	0	0	1	0	0	0	4772	912	32	2	968	2	DPYS	8	105456654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	533898	105456654	40907368	9289	11435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	261					0	0	1	0	0	A	105459595	G	A	105459595	3	1	22	1	0	0	0	0	1	0	0	0	4772	1319	46	2	1027	2	DPYS	8	105459595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2941	105459595	40904427	9290	11436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	193					0	0	1	0	0	A	105463555	G	A	105463555	2	1	22	1	0	0	0	0	0	0	0	1	4772	1049	37	1		1	DPYS	8	105463555	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3960	105463555	40900467	9291	11437											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	311					0	0	1	0	0	T	105509583	C	T	105509583	4	4	22	1	0	0	0	0	0	1	0	0	8999	740	26	2	1394	2	LRP12	8	105509583	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46028	105509583	40854439	9292	11438											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	557					2.96211e-45	3.63119e-45	1	1	0	T	105510183	G	T	105510183	2	4	22	1	0	0	0	0	0	0	0	1	8999	932	33	2		2	LRP12	8	105510183	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	600	105510183	40853839	9293	11439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P447S|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P584S|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P584S|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	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													36	126					0	0	1	0	0	T	106814456	C	T	106814456	3	4	22	1	0	0	0	0	1	0	0	0	17716	623	22	2	2176	2	ZFPM2	8	106814456	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1304273	106814456	39549566	9294	11440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													228	1046					8.56882e-71	1.08875e-70	1	1	0	A	107781789	C	A	107781789	3	1	22	1	0	0	0	0	1	0	0	0	100	680	24	2	523	2	ABRA	8	107781789	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	967333	107781789	38582233	9295	11441											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	1245					2.4624e-09	2.59004e-09	1	1	0	T	107781820	G	T	107781820	3	4	22	1	0	0	0	0	1	0	0	0	100	971	34	2	554	2	ABRA	8	107781820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31	107781820	38582202	9296	11442											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	382					0	0	1	0	0	T	109796947	C	T	109796947	2	4	22	1	0	0	0	0	0	0	0	1	16262	755	27	1		1	TMEM74	8	109796947	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2015127	109796947	36567075	9297	11443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	394					4.34311e-12	4.6502e-12	1	1	0	T	110100072	G	T	110100072	3	4	22	1	0	0	0	0	1	0	0	0	16541	1319	46	2	333	2	TRHR	8	110100072	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	303125	110100072	36263950	9298	11444											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	280					0	0	1	0	0	C	110283254	T	C	110283254	3	2	22	1	0	0	0	0	1	0	0	0	10770	1638	57	3	484	3	NUDCD1	8	110283254	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	183182	110283254	36080768	9299	11445											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			11	47					0	0	1	0	0	T	110408262	C	T	110408262	3	4	22	1	0	0	0	0	1	0	0	0	12020	507	18	2	860	2	PKHD1L1	8	110408262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125008	110408262	35955760	9300	11446											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			18	92					3.99206e-14	4.32713e-14	1	1	0	A	110442244	C	A	110442244	2	1	22	1	0	0	0	0	0	0	0	1	12020	900	32	2		2	PKHD1L1	8	110442244	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33982	110442244	35921778	9301	11447											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			83	316					0	0	1	0	0	C	110457518	T	C	110457518	3	2	22	1	0	0	0	0	1	0	0	0	12020	1725	60	3	5570	3	PKHD1L1	8	110457518	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15274	110457518	35906504	9302	11448											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			19	52					0	0	1	0	0	G	110471888	A	G	110471888	3	3	22	1	0	0	0	0	1	0	0	0	12020	43	2	3	7255	3	PKHD1L1	8	110471888	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14370	110471888	35892134	9303	11449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			10	68					1.76689e-08	1.84553e-08	1	1	0	A	110478873	C	A	110478873	3	1	22	1	0	0	0	0	1	0	0	0	12020	797	28	2	8678	2	PKHD1L1	8	110478873	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6985	110478873	35885149	9304	11450											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			8	121					0.27861	0.278732	1	1	0	A	110478960	C	A	110478960	3	1	22	1	0	0	0	0	1	0	0	0	12020	913	32	2	8765	2	PKHD1L1	8	110478960	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87	110478960	35885062	9305	11451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			49	191					0	0	1	0	0	G	110503218	A	G	110503218	2	3	22	1	0	0	0	0	0	0	0	1	12020	204	8	3		3	PKHD1L1	8	110503218	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24258	110503218	35860804	9306	11452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			26	112					0	0	1	0	0	T	110505909	C	T	110505909	3	4	22	1	0	0	0	0	1	0	0	0	12020	478	17	2	10506	2	PKHD1L1	8	110505909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2691	110505909	35858113	9307	11453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			59	335					0	0	1	0	0	C	110509151	A	C	110509151	3	2	22	1	0	0	0	0	1	0	0	0	12020	188	7	3	10585	3	PKHD1L1	8	110509151	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3242	110509151	35854871	9308	11454											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			48	315					2.23044e-30	2.6157e-30	1	1	0	T	110509385	G	T	110509385	4	4	22	1	0	0	0	0	0	1	0	0	12020	943	33	2	10741	2	PKHD1L1	8	110509385	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234	110509385	35854637	9309	11455											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000531677.1_Missense_Mutation_p.K111M|EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000395785.2_Missense_Mutation_p.K111M	NM_004215.3	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													12	107					0	0	1	0	0	T	110569174	A	T	110569174	3	4	22	1	0	0	0	0	1	0	0	0	4905	72	3	5	346	5	EBAG9	8	110569174	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	59789	110569174	35794848	9310	11456											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343508.3_Missense_Mutation_p.E3638A|CSMD3_ENST00000455883.2_Missense_Mutation_p.E3509A	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)			111	542					0	0	1	0	0	G	113237091	T	G	113237091	3	3	22	1	0	0	0	0	1	0	0	0	3971	1783	62	3	94	3	CSMD3	8	113237091	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2667917	113237091	33126931	9311	11457											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343508.3_Silent_p.S3507S|CSMD3_ENST00000455883.2_Silent_p.S3378S	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)			102	427					0	0	1	0	0	A	113246693	G	A	113246693	2	1	22	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	9312	11458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343508.3_Missense_Mutation_p.S2684R|CSMD3_ENST00000455883.2_Intron	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)			42	237					2.38262e-10	2.52522e-10	1	1	0	T	113317044	G	T	113317044	3	4	22	1	0	0	0	0	1	0	0	0	3971	962	34	2	3031	2	CSMD3	8	113317044	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70351	113317044	33046978	9313	11459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343508.3_Missense_Mutation_p.H2334R|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2270R	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)			43	173					0	0	1	0	0	C	113347602	T	C	113347602	3	2	22	1	0	0	0	0	1	0	0	0	3971	1696	59	3	4110	3	CSMD3	8	113347602	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30558	113347602	33016420	9314	11460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343508.3_Missense_Mutation_p.L2288I|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2224I	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)			93	438					4.81362e-53	5.99489e-53	1	1	0	T	113348918	G	T	113348918	3	4	22	1	0	0	0	0	1	0	0	0	3971	1000	35	2	4253	2	CSMD3	8	113348918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1316	113348918	33015104	9315	11461											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343508.3_Missense_Mutation_p.F2078C|CSMD3_ENST00000455883.2_Missense_Mutation_p.F2014C	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)			12	321					0	0	1	0	0	C	113358415	A	C	113358415	3	2	22	1	0	0	0	0	1	0	0	0	3971	246	9	3	4894	3	CSMD3	8	113358415	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9497	113358415	33005607	9316	11462											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343508.3_Missense_Mutation_p.F1862V|CSMD3_ENST00000455883.2_Missense_Mutation_p.F1798V	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)			84	365					0	0	1	0	0	C	113418858	A	C	113418858	3	2	22	1	0	0	0	0	1	0	0	0	3971	14	1	3	5567	3	CSMD3	8	113418858	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60443	113418858	32945164	9317	11463											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113504912G>A	ENST00000297405.5	-	31	5328	c.5083_splice	c.e31-1	p.A1695_splice	CSMD3_ENST00000352409.3_Splice_Site_p.A1695_splice|CSMD3_ENST00000343508.3_Splice_Site_p.A1655_splice|CSMD3_ENST00000455883.2_Splice_Site_p.A1591_splice	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)			62	300					0	0	1	0	0	A	113504912	G	A	113504912	5	1	22	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	9318	11464											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343508.3_Silent_p.T1579T|CSMD3_ENST00000455883.2_Silent_p.T1515T	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)			79	404					0	0	1	0	0	A	113518958	G	A	113518958	2	1	22	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	9319	11465											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343508.3_Missense_Mutation_p.S1561A|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1497A	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)			45	259					0	0	1	0	0	C	113519014	A	C	113519014	3	2	22	1	0	0	0	0	1	0	0	0	3971	246	9	3	6494	3	CSMD3	8	113519014	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56	113519014	32845008	9320	11466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343508.3_Missense_Mutation_p.G702E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G638E	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)			94	402					0	0	1	0	0	T	113697892	C	T	113697892	3	4	22	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	9321	11467											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343508.3_Missense_Mutation_p.V586A|CSMD3_ENST00000455883.2_Missense_Mutation_p.V522A	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)			7	306					0	0	1	0	0	G	113812486	A	G	113812486	3	3	22	1	0	0	0	0	1	0	0	0	3971	391	14	3	9482	3	CSMD3	8	113812486	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	114594	113812486	32551536	9322	11468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343508.3_Silent_p.G172G|CSMD3_ENST00000455883.2_Silent_p.G212G	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)			113	456					0	0	1	0	0	A	114186024	G	A	114186024	2	1	22	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	9323	11469											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343508.3_Silent_p.Y129Y|CSMD3_ENST00000455883.2_Silent_p.Y169Y	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)			21	230					0	0	1	0	0	G	114290828	A	G	114290828	2	3	22	1	0	0	0	0	0	0	0	1	3971	108	4	3		3	CSMD3	8	114290828	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	104804	114290828	32073194	9324	11470											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000220888.5_Missense_Mutation_p.C525Y|TRPS1_ENST00000519674.1_Missense_Mutation_p.C525Y|TRPS1_ENST00000520276.1_Missense_Mutation_p.C529Y|TRPS1_ENST00000519076.1_Intron	NM_014112.2	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				132	619					0	0	1	0	0	T	116616583	C	T	116616583	3	4	22	1	0	0	0	0	1	0	0	0	16654	478	17	2	2287	2	TRPS1	8	116616583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2325755	116616583	29747439	9325	11471											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000220888.5_Missense_Mutation_p.E349K|TRPS1_ENST00000519674.1_Missense_Mutation_p.E349K|TRPS1_ENST00000520276.1_Missense_Mutation_p.E353K|TRPS1_ENST00000519076.1_Missense_Mutation_p.E303K	NM_014112.2	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				75	370					0	0	1	0	0	T	116617112	C	T	116617112	3	4	22	1	0	0	0	0	1	0	0	0	16654	893	31	1	2816	1	TRPS1	8	116617112	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	529	116617112	29746910	9326	11472											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	384					0	0	1	0	0	T	117668207	C	T	117668207	3	4	22	1	0	0	0	0	1	0	0	0	5046	835	29	2	479	2	EIF3H	8	117668207	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1051095	117668207	28695815	9327	11473											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	444					0	0	1	0	0	A	117862951	G	A	117862951	3	1	22	1	0	0	0	0	1	0	0	0	13033	1000	35	2	381	2	RAD21	8	117862951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194744	117862951	28501071	9328	11474											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	393					0	0	1	0	0	G	117864872	A	G	117864872	2	3	22	1	0	0	0	0	0	0	0	1	13033	11	1	3		3	RAD21	8	117864872	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1921	117864872	28499150	9329	11475											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	226					0	0	1	0	0	C	117864941	T	C	117864941	3	2	22	1	0	0	0	0	1	0	0	0	13033	1638	57	3	747	3	RAD21	8	117864941	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	69	117864941	28499081	9330	11476											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	277					0	0	1	0	0	T	117878848	C	T	117878848	3	4	22	1	0	0	0	0	1	0	0	0	13033	536	19	1	1826	1	RAD21	8	117878848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13907	117878848	28485174	9331	11477											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000521243.1_Missense_Mutation_p.L225F|SLC30A8_ENST00000519688.1_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													66	266					0	0	1	0	0	T	118175760	C	T	118175760	3	4	22	1	0	0	0	0	1	0	0	0	14616	565	20	2	842	2	SLC30A8	8	118175760	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	296912	118175760	28188262	9332	11478											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				52	233					0	0	1	0	0	A	118812091	G	A	118812091	4	1	22	1	0	0	0	0	0	1	0	0	5351	1095	38	1	143	1	EXT1	8	118812091	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	636331	118812091	27551931	9333	11479											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				121	556					0	0	1	0	0	A	119122680	G	A	119122680	2	1	22	1	0	0	0	0	0	0	0	1	5351	1020	36	2		2	EXT1	8	119122680	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	310589	119122680	27241342	9334	11480											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				110	410					0	0	1	0	0	T	119122901	C	T	119122901	3	4	22	1	0	0	0	0	1	0	0	0	5351	893	31	1	1899	1	EXT1	8	119122901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221	119122901	27241121	9335	11481											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	246					0	0	1	0	0	A	119936933	G	A	119936933	3	1	22	1	0	0	0	0	1	0	0	0	16345	1058	37	1	323	1	TNFRSF11B	8	119936933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	814032	119936933	26427089	9336	11482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	718					0	0	1	0	0	A	120233931	G	A	120233931	2	1	22	1	0	0	0	0	0	0	0	1	9250	1074	38	1		1	MAL2	8	120233931	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	296998	120233931	26130091	9337	11483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	306					0	0	1	0	0	A	120430340	G	A	120430340	3	1	22	1	0	0	0	0	1	0	0	0	10600	1087	38	1	363	1	NOV	8	120430340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	196409	120430340	25933682	9338	11484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	274					0	0	1	0	0	C	120430352	A	C	120430352	3	2	22	1	0	0	0	0	1	0	0	0	10600	14	1	3	375	3	NOV	8	120430352	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12	120430352	25933670	9339	11485											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	486					0	0	1	0	0	A	120435115	G	A	120435115	3	1	22	1	0	0	0	0	1	0	0	0	10600	971	34	2	835	2	NOV	8	120435115	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4763	120435115	25928907	9340	11486											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	416					5.71386e-39	6.9007e-39	1	1	0	T	120569929	G	T	120569929	3	4	22	1	0	0	0	0	1	0	0	0	5158	962	34	2	171	2	ENPP2	8	120569929	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134814	120569929	25794093	9341	11487											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	235					0	0	1	0	0	A	120575129	G	A	120575129	3	1	22	1	0	0	0	0	1	0	0	0	5158	1203	42	2	210	2	ENPP2	8	120575129	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5200	120575129	25788893	9342	11488											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	323					0	0	1	0	0	A	120581568	G	A	120581568	3	1	22	1	0	0	0	0	1	0	0	0	5158	1115	39	1	651	1	ENPP2	8	120581568	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6439	120581568	25782454	9343	11489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003175.1	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													104	434					0	0	1	0	0	T	120795700	C	T	120795700	3	4	22	1	0	0	0	0	1	0	0	0	15581	652	23	1	1610	1	TAF2	8	120795700	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	214132	120795700	25568322	9344	11490											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003175.1	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													43	190					0	0	1	0	0	G	120803660	A	G	120803660	2	3	22	1	0	0	0	0	0	0	0	1	15581	446	16	3		3	TAF2	8	120803660	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7960	120803660	25560362	9345	11491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													152	766					0	0	1	0	0	G	120855907	A	G	120855907	3	3	22	1	0	0	0	0	1	0	0	0	4796	275	10	3	543	3	DSCC1	8	120855907	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52247	120855907	25508115	9346	11492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120855987C>A	ENST00000313655.4	-	5	792	c.577_splice	c.e5-1	p.G193_splice		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													97	490					2.1089e-46	2.5903e-46	1	1	0	A	120855987	C	A	120855987	5	1	22	1	0	0	0	0	0	0	1	0	4796	521	18	2	623	2	DSCC1	8	120855987	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	120855987	25508035	9347	11493											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000309791.4_Silent_p.S908S|COL14A1_ENST00000432943.2_3'UTR|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													44	196					0	0	1	0	0	T	121262977	C	T	121262977	2	4	22	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	9348	11494											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	306					0	0	1	0	0	A	121426282	G	A	121426282	2	1	22	1	0	0	0	0	0	0	0	1	9827	933	33	2		2	MRPL13	8	121426282	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163305	121426282	24937740	9349	11495											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	321					0	0	1	0	0	T	121706136	C	T	121706136	3	4	22	1	0	0	0	0	1	0	0	0	14926	884	31	1	1056	1	SNTB1	8	121706136	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279854	121706136	24657886	9350	11496											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	659					0	0	1	0	0	C	122626577	T	C	122626577	2	2	22	1	0	0	0	0	0	0	0	1	7003	1654	58	3		3	HAS2	8	122626577	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	920441	122626577	23737445	9351	11497											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													251	1112					1.20862e-62	1.52353e-62	1	1	0	A	122641042	C	A	122641042	3	1	22	1	0	0	0	0	1	0	0	0	7003	565	20	2	1131	2	HAS2	8	122641042	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14465	122641042	23722980	9352	11498											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	85					0	0	1	0	0	T	123963770	C	T	123963770	3	4	22	1	0	0	0	0	1	0	0	0	17734	913	32	2	22	2	ZHX2	8	123963770	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1322728	123963770	22400252	9353	11499											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	189					0	0	1	0	0	A	123965081	G	A	123965081	3	1	22	1	0	0	0	0	1	0	0	0	17734	1087	38	1	1333	1	ZHX2	8	123965081	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1311	123965081	22398941	9354	11500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	486					0	0	1	0	0	T	123965964	C	T	123965964	2	4	22	1	0	0	0	0	0	0	0	1	17734	776	27	1		1	ZHX2	8	123965964	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	883	123965964	22398058	9355	11501											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001134671.1|NM_024295.4	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													32	129					0	0	1	0	0	T	124054334	C	T	124054334	3	4	22	1	0	0	0	0	1	0	0	0	4474	797	28	2	758	2	DERL1	8	124054334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88370	124054334	22309688	9356	11502											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000546351.1_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000522648.1_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													32	137					0	0	1	0	0	A	124219674	G	A	124219674	3	1	22	1	0	0	0	0	1	0	0	0	5665	1087	38	1	1065	1	FAM83A	8	124219674	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165340	124219674	22144348	9357	11503											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.S200N|C8orf76_ENST00000521310.1_5'UTR	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													85	384					0	0	1	0	0	T	124243660	C	T	124243660	3	4	22	1	0	0	0	0	1	0	0	0	2455	797	28	2	459	2	C8orf76	8	124243660	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23986	124243660	22120362	9358	11504											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	321					0	0	1	0	0	T	124664939	C	T	124664939	2	4	22	1	0	0	0	0	0	0	0	1	8433	796	28	2		2	KLHL38	8	124664939	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	421279	124664939	21699083	9359	11505											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	327					0	0	1	0	0	A	124665022	G	A	124665022	3	1	22	1	0	0	0	0	1	0	0	0	8433	1116	39	1	1612	1	KLHL38	8	124665022	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83	124665022	21699000	9360	11506											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_659400.2	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													45	277					0	0	1	0	0	A	124787488	G	A	124787488	3	1	22	1	0	0	0	0	1	0	0	0	5684	1261	44	2	269	2	FAM91A1	8	124787488	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122466	124787488	21576534	9361	11507											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_659400.2	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													61	232					0	0	1	0	0	C	124792281	A	C	124792281	3	2	22	1	0	0	0	0	1	0	0	0	5684	40	2	3	632	3	FAM91A1	8	124792281	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4793	124792281	21571741	9362	11508											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	29	582					0	0	1	0	0	A	124992756	G	A	124992756	3	1	22	1	0	0	0	0	1	0	0	0	5848	1000	35	2	1153	2	FER1L6	8	124992756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200475	124992756	21371266	9363	11509											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	405					0	0	1	0	0	T	125047562	C	T	125047562	2	4	22	1	0	0	0	0	0	0	0	1	5848	871	31	1		1	FER1L6	8	125047562	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54806	125047562	21316460	9364	11510											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399018.1_Missense_Mutation_p.D974N|FER1L6-AS2_ENST00000601180.1_RNA|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													10	544					0	0	1	0	0	A	125072466	G	A	125072466	3	1	22	1	0	0	0	0	1	0	0	0	5848	942	33	2	3006	2	FER1L6	8	125072466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24904	125072466	21291556	9365	11511											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	514					0	0	1	0	0	A	125131850	G	A	125131850	3	1	22	1	0	0	0	0	1	0	0	0	5848	1087	38	1	5551	1	FER1L6	8	125131850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59384	125131850	21232172	9366	11512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000517367.1_Missense_Mutation_p.Y86C|NDUFB9_ENST00000518008.1_Missense_Mutation_p.Y97C|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													13	247					0	0	1	0	0	G	125555516	A	G	125555516	3	3	22	1	0	0	0	0	1	0	0	0	10335	391	14	3	296	3	NDUFB9	8	125555516	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	423666	125555516	20808506	9367	11513											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431961.2_Missense_Mutation_p.R113M|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000524090.1_Missense_Mutation_p.R203M|MTSS1_ENST00000354184.4_Missense_Mutation_p.R113M|MTSS1_ENST00000395508.2_Missense_Mutation_p.R47M|MTSS1_ENST00000325064.5_Missense_Mutation_p.R317M|MTSS1_ENST00000378017.3_Missense_Mutation_p.R313M|MTSS1_ENST00000523587.1_5'UTR	NM_014751.4	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													9	194					5.4927e-09	5.7613e-09	1	1	0	A	125575120	C	A	125575120	3	1	22	1	0	0	0	0	1	0	0	0	10010	681	24	2	1349	2	MTSS1	8	125575120	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19604	125575120	20788902	9368	11514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431961.2_5'UTR|NDUFB9_ENST00000522532.1_3'UTR|MTSS1_ENST00000524090.1_Missense_Mutation_p.R84Q|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Missense_Mutation_p.R198Q|MTSS1_ENST00000378017.3_Missense_Mutation_p.R194Q	NM_014751.4	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													51	295					0	0	1	0	0	T	125580657	C	T	125580657	3	4	22	1	0	0	0	0	1	0	0	0	10010	884	31	1	1718	1	MTSS1	8	125580657	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5537	125580657	20783365	9369	11515											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	209					0	0	1	0	0	A	126030321	G	A	126030321	3	1	22	1	0	0	0	0	1	0	0	0	15184	1087	38	1	1154	1	SQLE	8	126030321	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	449664	126030321	20333701	9370	11516											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	741					1.36615e-20	1.53219e-20	1	1	0	A	126051140	C	A	126051140	3	1	22	1	0	0	0	0	1	0	0	0	8203	913	32	2	483	2	KIAA0196	8	126051140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20819	126051140	20312882	9371	11517											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	287					0	0	1	0	0	A	126093973	G	A	126093973	2	1	22	1	0	0	0	0	0	0	0	1	8203	962	34	2		2	KIAA0196	8	126093973	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42833	126093973	20270049	9372	11518											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131146542G>A	ENST00000357668.1	-	14	1244	c.1217_splice	c.e14+1	p.A406_splice	ASAP1_ENST00000518721.1_Splice_Site_p.A406_splice			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													46	173					0	0	1	0	0	A	131146542	G	A	131146542	5	1	22	1	0	0	0	0	0	0	1	0	1009	1101	38	1	2236	1	ASAP1	8	131146542	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5052569	131146542	15217480	9373	11519											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			40	202					0	0	1	0	0	A	131795943	G	A	131795943	3	1	22	1	0	0	0	0	1	0	0	0	299	1115	39	1	501	1	ADCY8	8	131795943	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	649401	131795943	14568079	9374	11520											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131859759G>A	ENST00000286355.5	-	11	4505	c.2412_splice	c.e11-1	p.L805_splice	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)			15	61					0	0	1	0	0	A	131859759	G	A	131859759	5	1	22	1	0	0	0	0	0	0	1	0	299	985	34	2	1374	2	ADCY8	8	131859759	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63816	131859759	14504263	9375	11521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132952824T>C	ENST00000254624.5	+	2	312		c.e2+2		EFR3A_ENST00000334503.4_Splice_Site|EFR3A_ENST00000519656.1_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													9	61					0	0	1	0	0	C	132952824	T	C	132952824	5	2	22	1	0	0	0	0	0	0	1	0	4984	1652	57	3	95	3	EFR3A	8	132952824	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1093065	132952824	13411198	9376	11522											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334503.4_Missense_Mutation_p.Q287H|EFR3A_ENST00000519656.1_Missense_Mutation_p.Q251H	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													25	118					7.92952e-12	8.47903e-12	1	1	0	T	132980547	G	T	132980547	3	4	22	1	0	0	0	0	1	0	0	0	4984	1020	36	2	895	2	EFR3A	8	132980547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27723	132980547	13383475	9377	11523											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334503.4_Missense_Mutation_p.V349I|EFR3A_ENST00000519656.1_Missense_Mutation_p.V313I	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													38	185					0	0	1	0	0	A	132982776	G	A	132982776	3	1	22	1	0	0	0	0	1	0	0	0	4984	1145	40	1	1083	1	EFR3A	8	132982776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2229	132982776	13381246	9378	11524											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334503.4_Missense_Mutation_p.I560T|EFR3A_ENST00000519656.1_Missense_Mutation_p.I524T	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													67	318					0	0	1	0	0	C	132996489	T	C	132996489	3	2	22	1	0	0	0	0	1	0	0	0	4984	1493	52	3	1737	3	EFR3A	8	132996489	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13713	132996489	13367533	9379	11525											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000603859.1_Silent_p.D93D|OC90_ENST00000254627.3_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													40	174					0	0	1	0	0	A	133053837	G	A	133053837	2	1	22	1	0	0	0	0	0	0	0	1	10862	1020	36	2		2	OC90	8	133053837	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57348	133053837	13310185	9380	11526											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	318					0	0	1	0	0	A	133187774	G	A	133187774	3	1	22	1	0	0	0	0	1	0	0	0	8128	1232	43	2	1803	2	KCNQ3	8	133187774	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133937	133187774	13176248	9381	11527											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518642.1_Missense_Mutation_p.K315Q|LRRC6_ENST00000250173.1_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													54	223					0	0	1	0	0	G	133627315	T	G	133627315	3	3	22	1	0	0	0	0	1	0	0	0	9061	1850	64	3	477	3	LRRC6	8	133627315	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	439541	133627315	12736707	9382	11528											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518642.1_Missense_Mutation_p.E185K|LRRC6_ENST00000250173.1_Missense_Mutation_p.E185K|LRRC6_ENST00000520446.1_Intron			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													145	708					0	0	1	0	0	T	133645086	C	T	133645086	3	4	22	1	0	0	0	0	1	0	0	0	9061	864	30	2	879	2	LRRC6	8	133645086	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17771	133645086	12718936	9383	11529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395383.1_Missense_Mutation_p.F244C|PHF20L1_ENST00000395379.1_Missense_Mutation_p.F240C|PHF20L1_ENST00000395382.3_Missense_Mutation_p.F110C|PHF20L1_ENST00000395376.1_Missense_Mutation_p.F244C|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000315808.10_Missense_Mutation_p.F240C|PHF20L1_ENST00000395374.1_Missense_Mutation_p.F79C|PHF20L1_ENST00000395390.2_Missense_Mutation_p.F214C|PHF20L1_ENST00000337920.4_Missense_Mutation_p.F214C	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													41	177					0	0	1	0	0	G	133816275	T	G	133816275	3	3	22	1	0	0	0	0	1	0	0	0	11880	1841	64	3	741	3	PHF20L1	8	133816275	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	171189	133816275	12547747	9384	11530											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395383.1_Nonsense_Mutation_p.L378*|PHF20L1_ENST00000395382.3_Nonsense_Mutation_p.L244*|PHF20L1_ENST00000315808.10_Nonsense_Mutation_p.L374*|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													91	443					0	0	1	0	0	G	133827072	T	G	133827072	4	3	22	1	0	0	0	0	0	1	0	0	11880	1764	61	3	1161	3	PHF20L1	8	133827072	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10797	133827072	12536950	9385	11531											
PHF20L1	51105	broad.mit.edu	37	chr8	133837585	133837586	+	Frame_Shift_Ins	INS	-	-	A													gaccaaaacagaagaagaagINSaaaaaaaagaaaaagaaatc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133837585_133837586insA	ENST00000395386.2	+	14	2012_2013	c.1713_1714insA	c.(1711-1716)aaaaaafs	p.KK571fs	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000315808.10_3'UTR|PHF20L1_ENST00000395390.2_Frame_Shift_Ins_p.KK546fs	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	571	Lys-rich.						nucleic acid binding|zinc ion binding	p.K545K(1)		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)			agaagaagaagaaaaaaaagaa	0.297													8	69	---	---	---	---						A	133837586	-	A	133837585	7	5	22	1	0	1	1	0	0	0	0	0	11880	933	33	0	1859	0	PHF20L1	8	133837585	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	10513	133837585	12526437	9386	11532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	112					6.12954e-19	6.81806e-19	1	1	0	A	133919108	C	A	133919108	2	1	22	1	0	0	0	0	0	0	0	1	15873	784	28	2		2	TG	8	133919108	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81523	133919108	12444914	9387	11533											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000519543.1_Missense_Mutation_p.I63T|TG_ENST00000377869.1_Missense_Mutation_p.I1852T|TG_ENST00000542445.1_Missense_Mutation_p.I279T	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													33	133					0	0	1	0	0	C	133980078	T	C	133980078	3	2	22	1	0	0	0	0	1	0	0	0	15873	1406	49	3	5848	3	TG	8	133980078	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	60970	133980078	12383944	9388	11534											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000519543.1_Missense_Mutation_p.V285M|TG_ENST00000522523.1_3'UTR|TG_ENST00000377869.1_Missense_Mutation_p.V2095M|TG_ENST00000542445.1_Missense_Mutation_p.V522M	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													74	287					0	0	1	0	0	A	134025901	G	A	134025901	3	1	22	1	0	0	0	0	1	0	0	0	15873	1377	48	2	6600	2	TG	8	134025901	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45823	134025901	12338121	9389	11535											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.D119N|TG_ENST00000542445.1_Intron|SLA_ENST00000524345.1_5'UTR|SLA_ENST00000395352.3_Missense_Mutation_p.D119N|SLA_ENST00000427060.2_Missense_Mutation_p.D142N	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													39	270					0	0	1	0	0	T	134060123	C	T	134060123	3	4	22	1	0	0	0	0	1	0	0	0	14418	913	32	2	542	2	SLA	8	134060123	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34222	134060123	12303899	9390	11536											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000519543.1_Silent_p.S785S|TG_ENST00000377869.1_Silent_p.S2595S|TG_ENST00000542445.1_Silent_p.S1022S	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													76	358					0	0	1	0	0	A	134144149	G	A	134144149	2	1	22	1	0	0	0	0	0	0	0	1	15873	1074	38	1		1	TG	8	134144149	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84026	134144149	12219873	9391	11537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399640.2_Missense_Mutation_p.G176W|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.G176W|ST3GAL1_ENST00000521180.1_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													153	717					1.23367e-73	1.57067e-73	1	1	0	A	134477178	C	A	134477178	3	1	22	1	0	0	0	0	1	0	0	0	15270	681	24	2	512	2	ST3GAL1	8	134477178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	333029	134477178	11886844	9392	11538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399640.2_Missense_Mutation_p.S136L|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.S136L|ST3GAL1_ENST00000521180.1_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													77	333					0	0	1	0	0	A	134478233	G	A	134478233	3	1	22	1	0	0	0	0	1	0	0	0	15270	1059	37	1	635	1	ST3GAL1	8	134478233	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1055	134478233	11885789	9393	11539											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429442.2_Missense_Mutation_p.A594T|ZFAT_ENST00000520356.1_Missense_Mutation_p.A594T|ZFAT_ENST00000520214.1_Missense_Mutation_p.A594T|ZFAT_ENST00000523399.1_Missense_Mutation_p.A544T|ZFAT_ENST00000377838.3_Missense_Mutation_p.A606T	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													71	262					0	0	1	0	0	T	135614146	C	T	135614146	3	4	22	1	0	0	0	0	1	0	0	0	17690	768	27	1	1959	1	ZFAT	8	135614146	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1135913	135614146	10749876	9394	11540											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429442.2_Missense_Mutation_p.Q496H|ZFAT_ENST00000520356.1_Missense_Mutation_p.Q496H|ZFAT_ENST00000520214.1_Missense_Mutation_p.Q496H|ZFAT_ENST00000523399.1_Missense_Mutation_p.Q446H|ZFAT_ENST00000377838.3_Missense_Mutation_p.Q508H	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													15	143					0.00244969	0.00247089	1	1	0	A	135614438	C	A	135614438	3	1	22	1	0	0	0	0	1	0	0	0	17690	796	28	2	2251	2	ZFAT	8	135614438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	292	135614438	10749584	9395	11541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429442.2_Silent_p.T260T|ZFAT_ENST00000520356.1_Silent_p.T260T|ZFAT_ENST00000520214.1_Silent_p.T260T|ZFAT_ENST00000523399.1_Silent_p.T210T|ZFAT_ENST00000377838.3_Silent_p.T272T	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													83	324					0	0	1	0	0	C	135615146	A	C	135615146	2	2	22	1	0	0	0	0	0	0	0	1	17690	59	3	3		3	ZFAT	8	135615146	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	708	135615146	10748876	9396	11542											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)ccgagafs	p.R1255fs	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Frame_Shift_Ins_p.R1235fs	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)			274	1284	---	---	---	---						A	139635984	-	A	139635983	7	5	22	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	9397	11543											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			9	423					0.00829132	0.00834067	1	1	0	T	139697494	G	T	139697494	3	4	22	1	0	0	0	0	1	0	0	0	3704	1000	35	2	2068	2	COL22A1	8	139697494	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61511	139697494	6666528	9398	11544											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			32	175					0	0	1	0	0	A	139763703	G	A	139763703	4	1	22	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	9399	11545											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139825183G>A	ENST00000303045.6	-	8	1771	c.1326_splice	c.e8+1	p.P442_splice	COL22A1_ENST00000435777.1_Splice_Site_p.P442_splice	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)			7	278					0	0	1	0	0	A	139825183	G	A	139825183	5	1	22	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	9400	11546											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			13	54					0	0	1	0	0	A	139890402	G	A	139890402	2	1	22	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	9401	11547											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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													6	122					0	0	1	0	0	A	140714976	G	A	140714976	3	1	22	1	0	0	0	0	1	0	0	0	8116	1087	38	1	872	1	KCNK9	8	140714976	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	824574	140714976	5649046	9402	11548	72	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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													19	118					5.03518e-11	5.3609e-11	1	1	0	T	140714984	G	T	140714984	3	4	22	1	0	0	0	0	1	0	0	0	8116	933	33	2	880	2	KCNK9	8	140714984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	140714984	5649038	9403	11549	72	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438773.2_Missense_Mutation_p.S440I|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S431I	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													94	430					8.2166e-39	9.9152e-39	1	1	0	A	141381095	C	A	141381095	3	1	22	1	0	0	0	0	1	0	0	0	16526	565	20	2	2191	2	TRAPPC9	8	141381095	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	666111	141381095	4982927	9404	11550											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438773.2_Silent_p.R114R|TRAPPC9_ENST00000389327.3_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													67	276					0	0	1	0	0	T	141461131	C	T	141461131	2	4	22	1	0	0	0	0	0	0	0	1	16526	726	26	2		2	TRAPPC9	8	141461131	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80036	141461131	4902891	9405	11551											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	183					0	0	1	0	0	G	141524478	T	G	141524478	3	3	22	1	0	0	0	0	1	0	0	0	3393	1725	60	3	164	3	CHRAC1	8	141524478	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63347	141524478	4839544	9406	11552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340930.3_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000520151.1_Missense_Mutation_p.S15Y|PTK2_ENST00000522684.1_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000521059.1_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													15	255					1.49906e-05	1.53515e-05	1	1	0	T	141774407	G	T	141774407	3	4	22	1	0	0	0	0	1	0	0	0	12812	957	33	2		2	PTK2	8	141774407	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249929	141774407	4589615	9407	11553											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340930.3_Missense_Mutation_p.R385Q|PTK2_ENST00000519419.1_Missense_Mutation_p.R429Q|PTK2_ENST00000517887.1_Missense_Mutation_p.R429Q|PTK2_ENST00000538769.1_Missense_Mutation_p.R46Q|PTK2_ENST00000535192.1_Missense_Mutation_p.R385Q|PTK2_ENST00000395218.2_Missense_Mutation_p.R385Q|PTK2_ENST00000521059.1_Missense_Mutation_p.R385Q	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													195	901					0	0	1	0	0	T	141799596	C	T	141799596	3	4	22	1	0	0	0	0	1	0	0	0	12812	652	23	1	2080	1	PTK2	8	141799596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25189	141799596	4564426	9408	11554											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340930.3_Missense_Mutation_p.S379N|PTK2_ENST00000519419.1_Missense_Mutation_p.S423N|PTK2_ENST00000517887.1_Missense_Mutation_p.S423N|PTK2_ENST00000538769.1_Missense_Mutation_p.S40N|PTK2_ENST00000535192.1_Missense_Mutation_p.S379N|PTK2_ENST00000395218.2_Missense_Mutation_p.S379N|PTK2_ENST00000521059.1_Missense_Mutation_p.S379N	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													172	785					0	0	1	0	0	T	141799614	C	T	141799614	3	4	22	1	0	0	0	0	1	0	0	0	12812	797	28	2	2098	2	PTK2	8	141799614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18	141799614	4564408	9409	11555											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141856698C>T	ENST00000522684.1	-	6	759	c.530_splice	c.e6+1	p.R177_splice	PTK2_ENST00000340930.3_Splice_Site_p.R177_splice|PTK2_ENST00000519419.1_Splice_Site_p.R221_splice|PTK2_ENST00000517887.1_Splice_Site_p.R221_splice|PTK2_ENST00000535192.1_Splice_Site_p.R177_splice|PTK2_ENST00000395218.2_Splice_Site_p.R177_splice|PTK2_ENST00000521059.1_Splice_Site_p.R177_splice	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													39	236					0	0	1	0	0	T	141856698	C	T	141856698	5	4	22	1	0	0	0	0	0	0	1	0	12812	666	23	1	2736	1	PTK2	8	141856698	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57084	141856698	4507324	9410	11556											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424248.1_Missense_Mutation_p.E27A|DENND3_ENST00000262585.2_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													20	77					0	0	1	0	0	C	142146825	A	C	142146825	3	2	22	1	0	0	0	0	1	0	0	0	4460	304	11	3	82	3	DENND3	8	142146825	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	290127	142146825	4217197	9411	11557											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424248.1_Missense_Mutation_p.V33I|DENND3_ENST00000262585.2_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													21	59					0	0	1	0	0	A	142146842	G	A	142146842	3	1	22	1	0	0	0	0	1	0	0	0	4460	1145	40	1	99	1	DENND3	8	142146842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	142146842	4217180	9412	11558											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424248.1_Silent_p.S408S|DENND3_ENST00000262585.2_Silent_p.S460S			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													152	783					0	0	1	0	0	A	142176355	G	A	142176355	2	1	22	1	0	0	0	0	0	0	0	1	4460	1074	38	1		1	DENND3	8	142176355	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29513	142176355	4187667	9413	11559											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424248.1_Missense_Mutation_p.E578K|DENND3_ENST00000262585.2_Missense_Mutation_p.E630K			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													92	391					0	0	1	0	0	A	142178477	G	A	142178477	3	1	22	1	0	0	0	0	1	0	0	0	4460	1059	37	1	1934	1	DENND3	8	142178477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2122	142178477	4185545	9414	11560											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	248					0	0	1	0	0	T	142227289	C	T	142227289	5	4	22	1	0	0	0	0	0	0	1	0	14698	695	24	2	936	2	SLC45A4	8	142227289	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48812	142227289	4136733	9415	11561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	247					0	0	1	0	0	G	142228354	T	G	142228354	3	3	22	1	0	0	0	0	1	0	0	0	14698	1580	55	3	1184	3	SLC45A4	8	142228354	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1065	142228354	4135668	9416	11562											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	319					0	0	1	0	0	T	142228381	C	T	142228381	3	4	22	1	0	0	0	0	1	0	0	0	14698	768	27	1	1211	1	SLC45A4	8	142228381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27	142228381	4135641	9417	11563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	344					0	0	1	0	0	A	142228404	G	A	142228404	2	1	22	1	0	0	0	0	0	0	0	1	14698	1103	39	1		1	SLC45A4	8	142228404	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	142228404	4135618	9418	11564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	462					0	0	1	0	0	T	142228727	C	T	142228727	3	4	22	1	0	0	0	0	1	0	0	0	14698	768	27	1	1557	1	SLC45A4	8	142228727	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	323	142228727	4135295	9419	11565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	168					0	0	1	0	0	A	143603441	G	A	143603441	3	1	22	1	0	0	0	0	1	0	0	0	1296	1087	38	1	3218	1	BAI1	8	143603441	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1374714	143603441	2760581	9420	11566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	96					0	0	1	0	0	T	143607953	C	T	143607953	2	4	22	1	0	0	0	0	0	0	0	1	1296	535	19	1		1	BAI1	8	143607953	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4512	143607953	2756069	9421	11567											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_015193.3	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													69	258					2.60599e-31	3.06669e-31	1	1	0	A	143694703	C	A	143694703	3	1	22	1	0	0	0	0	1	0	0	0	838	912	32	2	264	2	ARC	8	143694703	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86750	143694703	2669319	9422	11568											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	93					1.12685e-05	1.15515e-05	1	1	0	A	143747217	C	A	143747217	1	1	22	0	1	0	0	0	0	0	0	0	8008	796	28	2		2	JRK	8	143747217	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52514	143747217	2616805	9423	11569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000561179.1_Silent_p.A69A|LY6K_ENST00000518841.1_Silent_p.A11A|LY6K_ENST00000292430.6_Silent_p.A11A|LY6K_ENST00000519387.1_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													11	50					0	0	1	0	0	T	143781978	C	T	143781978	2	4	22	1	0	0	0	0	0	0	0	1	9144	610	22	2		2	LY6K	8	143781978	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34761	143781978	2582044	9424	11570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395192.2_De_novo_Start_OutOfFrame|LYNX1_ENST00000335822.5_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													17	107					3.41278e-10	3.61262e-10	1	1	0	T	143857418	G	T	143857418	1	4	22	1	0	0	0	0	0	0	0	0	9154	986	34	2		2	LYNX1	8	143857418	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75440	143857418	2506604	9425	11571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377675.3_Missense_Mutation_p.R483C|CYP11B1_ENST00000517471.1_Intron	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				91	399					0	0	1	0	0	A	143956537	G	A	143956537	3	1	22	1	0	0	0	0	1	0	0	0	4168	1058	37	1	285	1	CYP11B1	8	143956537	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99119	143956537	2407485	9426	11572											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000521699.1_Silent_p.S42S|LY6E_ENST00000429120.2_Silent_p.S42S|LY6E_ENST00000521003.1_Silent_p.S42S|LY6E_ENST00000523847.1_Silent_p.S42S|LY6E_ENST00000292494.6_Silent_p.S42S|LY6E_ENST00000519611.1_Silent_p.S42S|LY6E_ENST00000520466.1_Silent_p.S42S|LY6E_ENST00000519546.1_Silent_p.S42S|LY6E_ENST00000521182.1_Nonsense_Mutation_p.R31*|LY6E_ENST00000522528.1_Nonsense_Mutation_p.R31*|LY6E_ENST00000522971.1_Silent_p.S42S|LY6E_ENST00000520531.1_Silent_p.S42S|LY6E_ENST00000522024.1_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													19	341					0	0	1	0	0	T	144102804	C	T	144102804	4	4	22	1	0	0	0	0	0	1	0	0	9137	639	23	1	132	1	LY6E	8	144102804	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146267	144102804	2261218	9427	11573											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	171					1.12685e-05	1.15515e-05	1	1	0	T	144124636	G	T	144124636	3	4	22	1	0	0	0	0	1	0	0	0	2437	1000	35	2	149	2	C8orf31	8	144124636	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21832	144124636	2239386	9428	11574											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	384					0	0	1	0	0	A	144240263	G	A	144240263	2	1	22	1	0	0	0	0	0	0	0	1	9143	1103	39	1		1	LY6H	8	144240263	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115627	144240263	2123759	9429	11575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_173832.3	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													130	710					0	0	1	0	0	T	144332465	C	T	144332465	3	4	22	1	0	0	0	0	1	0	0	0	17707	739	26	2	454	2	ZFP41	8	144332465	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92202	144332465	2031557	9430	11576											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	71					2.32078e-09	2.442e-09	1	1	0	T	144378799	G	T	144378799	3	4	22	1	0	0	0	0	1	0	0	0	18155	933	33	2	960	2	ZNF696	8	144378799	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46334	144378799	1985223	9431	11577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	391					0	0	1	0	0	T	144589969	C	T	144589969	2	4	22	1	0	0	0	0	0	0	0	1	17628	755	27	1		1	ZC3H3	8	144589969	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211170	144589969	1774053	9432	11578											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	60					0	0	1	0	0	T	144643581	C	T	144643581	3	4	22	1	0	0	0	0	1	0	0	0	6860	739	26	2	742	2	GSDMD	8	144643581	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53612	144643581	1720441	9433	11579											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000529272.1_Missense_Mutation_p.K107E|EEF1D_ENST00000526838.1_Missense_Mutation_p.K88E|EEF1D_ENST00000395119.3_Missense_Mutation_p.K107E|EEF1D_ENST00000419152.2_Missense_Mutation_p.K107E|EEF1D_ENST00000524624.1_Missense_Mutation_p.K83E|EEF1D_ENST00000423316.2_Missense_Mutation_p.K473E|EEF1D_ENST00000317198.6_Missense_Mutation_p.K107E|EEF1D_ENST00000528610.1_Missense_Mutation_p.K83E|EEF1D_ENST00000531621.1_Missense_Mutation_p.K64E|EEF1D_ENST00000442189.2_Missense_Mutation_p.K473E|EEF1D_ENST00000532400.1_Intron			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													23	365					0	0	1	0	0	C	144663295	T	C	144663295	3	2	22	1	0	0	0	0	1	0	0	0	4952	1821	63	3	542	3	EEF1D	8	144663295	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19714	144663295	1700727	9434	11580											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000529272.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000423316.2_Silent_p.E326E|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000442189.2_Silent_p.E326E|EEF1D_ENST00000532400.1_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													26	101					0	0	1	0	0	T	144671274	C	T	144671274	2	4	22	1	0	0	0	0	0	0	0	1	4952	564	20	2		2	EEF1D	8	144671274	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7979	144671274	1692748	9435	11581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000529272.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.A312T|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.A312T|EEF1D_ENST00000532400.1_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													25	93					0	0	1	0	0	T	144671318	C	T	144671318	3	4	22	1	0	0	0	0	1	0	0	0	4952	710	25	2	1041	2	EEF1D	8	144671318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44	144671318	1692704	9436	11582											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000529272.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000423316.2_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000442189.2_Intron|EEF1D_ENST00000532400.1_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													4	38					0	0	1	0	0	A	144672378	G	A	144672378	2	1	22	1	0	0	0	0	0	0	0	1	4952	1189	41	2		2	EEF1D	8	144672378	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1060	144672378	1691644	9437	11583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	117					0	0	1	0	0	T	144695733	C	T	144695733	2	4	22	1	0	0	0	0	0	0	0	1	16735	680	24	2		2	TSTA3	8	144695733	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23355	144695733	1668289	9438	11584											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000458270.2_Nonsense_Mutation_p.G51*|ZNF623_ENST00000526926.1_Nonsense_Mutation_p.G51*	NM_014789.3	NP_055604.3	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													101	462					1.44786e-46	1.77932e-46	1	1	0	T	144732313	G	T	144732313	4	4	22	1	0	0	0	0	0	1	0	0	18104	1001	35	2	273	2	ZNF623	8	144732313	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36580	144732313	1631709	9439	11585											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	88					0	0	1	0	0	T	144776463	C	T	144776463	2	4	22	1	0	0	0	0	0	0	0	1	18167	776	27	1		1	ZNF707	8	144776463	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44150	144776463	1587559	9440	11586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395108.2_Missense_Mutation_p.G107S|MAPK15_ENST00000395107.4_Missense_Mutation_p.G124S	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													28	114					0	0	1	0	0	A	144800977	G	A	144800977	3	1	22	1	0	0	0	0	1	0	0	0	9327	1116	39	1	337	1	MAPK15	8	144800977	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24514	144800977	1563045	9441	11587											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395108.2_Missense_Mutation_p.R213W|MAPK15_ENST00000395107.4_Missense_Mutation_p.R230W	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													39	208					0	0	1	0	0	T	144801568	C	T	144801568	3	4	22	1	0	0	0	0	1	0	0	0	9327	759	27	1	663	1	MAPK15	8	144801568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	591	144801568	1562454	9442	11588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_940890.3	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													7	95					0	0	1	0	0	T	144808550	C	T	144808550	2	4	22	1	0	0	0	0	0	0	0	1	5672	639	23	1		1	FAM83H	8	144808550	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6982	144808550	1555472	9443	11589											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_940890.3	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													10	237					0	0	1	0	0	T	144810228	C	T	144810228	3	4	22	1	0	0	0	0	1	0	0	0	5672	768	27	1	2140	1	FAM83H	8	144810228	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1678	144810228	1553794	9444	11590											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_940890.3	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													35	313					0	0	1	0	0	A	144812445	G	A	144812445	3	1	22	1	0	0	0	0	1	0	0	0	5672	1203	42	2	3247	2	FAM83H	8	144812445	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2217	144812445	1551577	9445	11591											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_940890.3	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													21	125					0	0	1	0	0	T	144812742	C	T	144812742	3	4	22	1	0	0	0	0	1	0	0	0	5672	768	27	1	3544	1	FAM83H	8	144812742	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	297	144812742	1551280	9446	11592											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_874365.3	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													17	77					0	0	1	0	0	A	144885613	G	A	144885613	2	1	22	1	0	0	0	0	0	0	0	1	13991	1074	38	1		1	SCRIB	8	144885613	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72871	144885613	1478409	9447	11593											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_874365.3	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													44	199					0	0	1	0	0	A	144890804	G	A	144890804	3	1	22	1	0	0	0	0	1	0	0	0	13991	1203	42	2	2969	2	SCRIB	8	144890804	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5191	144890804	1473218	9448	11594											
SCRIB	23513	broad.mit.edu	37	chr8	144890900	144890902	+	In_Frame_Del	DEL	TCC	TCC	-													cctcctgaggactaccctctTcctcctcctcctcctccttc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144890900_144890902delTCC	ENST00000356994.2	-	15	1998_2000	c.1992_1994delGGA	c.(1990-1995)gaa>ga	p.EE664del	SCRIB_ENST00000320476.3_In_Frame_Del_p.EE664del|SCRIB_ENST00000377533.3_In_Frame_Del_p.EE583del	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	664	Glu-rich.|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)			actaccctcttcctcctcctcct	0.665													7	297	---	---	---	---						-	144890902	TCC	-	144890900	7	5	22	1	0	1	0	1	0	0	0	0	13991	1783	62	0	3065	0	SCRIB	8	144890900	In_Frame_Del	DEL	TCC	TCGA-IB-7651-01A-11D-2154-08	96	144890900	1473122	9449	11595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_874365.3	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													19	84					1.33834e-09	1.40959e-09	1	1	0	A	144893409	C	A	144893409	3	1	22	1	0	0	0	0	1	0	0	0	13991	797	28	2	4066	2	SCRIB	8	144893409	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2509	144893409	1470613	9450	11596											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000349157.6_Silent_p.Y257Y|PUF60_ENST00000456095.2_Silent_p.Y245Y|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000527197.1_Silent_p.Y228Y|PUF60_ENST00000313352.7_Silent_p.Y214Y|PUF60_ENST00000453551.2_Silent_p.Y231Y	NM_001271098.1|NM_078480.1	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													26	94					0	0	1	0	0	A	144899948	G	A	144899948	2	1	22	1	0	0	0	0	0	0	0	1	12876	1140	40	1		1	PUF60	8	144899948	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6539	144899948	1464074	9451	11597											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	42					0	0	1	0	0	A	144919856	G	A	144919856	2	1	22	1	0	0	0	0	0	0	0	1	10691	1074	38	1		1	NRBP2	8	144919856	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19908	144919856	1444166	9452	11598											
EPPK1	83481	broad.mit.edu	37	chr8	144940245	144940245	+	Missense_Mutation	SNP	C	C	T													ctgcaggtacgtgaggttctCgtgcgtgttggggtcgaaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940245C>T	ENST00000525985.1	-	2	7248	c.7177G>A	c.(7177-7179)Gag>Aag	p.E2393K				P58107	EPIPL_HUMAN	epiplakin 1	2393						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.E2393K(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)			GTGAGGTTCTCGTGCGTGTTG	0.627													41	1799					0	0	1	0	0	T	144940245	C	T	144940245	3	4	22	1	0	0	0	0	1	0	0	0	5218	893	31	1	89	1	EPPK1	8	144940245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20389	144940245	1423777	9453	11599	73	2									
EPPK1	83481	broad.mit.edu	37	chr8	144940249	144940249	+	Silent	SNP	C	C	T													aggtacgtgaggttctcgtgCgtgttggggtcgaagaagcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	2038					0	0	1	0	0	T	144940249	C	T	144940249	2	4	22	1	0	0	0	0	0	0	0	1	5218	755	27	1		1	EPPK1	8	144940249	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4	144940249	1423773	9454	11600	73	2									
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	2690					0	0	1	0	0	A	144940360	G	A	144940360	2	1	22	1	0	0	0	0	0	0	0	1	5218	1194	42	2		2	EPPK1	8	144940360	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	144940360	1423662	9455	11601											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	2389					0	0	1	0	0	T	144940412	C	T	144940412	3	4	22	1	0	0	0	0	1	0	0	0	5218	768	27	1	256	1	EPPK1	8	144940412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52	144940412	1423610	9456	11602											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	490					1.05317e-09	1.11087e-09	1	1	0	A	144940647	C	A	144940647	3	1	22	1	0	0	0	0	1	0	0	0	5218	739	26	2	491	2	EPPK1	8	144940647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	235	144940647	1423375	9457	11603	74	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	498					0	0	1	0	0	T	144940652	C	T	144940652	3	4	22	1	0	0	0	0	1	0	0	0	5218	739	26	2	496	2	EPPK1	8	144940652	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	144940652	1423370	9458	11604	74	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	582					0	0	1	0	0	T	144940665	C	T	144940665	3	4	22	1	0	0	0	0	1	0	0	0	5218	536	19	1	509	1	EPPK1	8	144940665	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13	144940665	1423357	9459	11605											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	401					0	0	1	0	0	A	144942172	G	A	144942172	2	1	22	1	0	0	0	0	0	0	0	1	5218	1103	39	1		1	EPPK1	8	144942172	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1507	144942172	1421850	9460	11606											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	157					0	0	1	0	0	T	144943253	C	T	144943253	3	4	22	1	0	0	0	0	1	0	0	0	5218	797	28	2	3097	2	EPPK1	8	144943253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1081	144943253	1420769	9461	11607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	257					0	0	1	0	0	T	144945010	C	T	144945010	2	4	22	1	0	0	0	0	0	0	0	1	5218	755	27	1		1	EPPK1	8	144945010	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1757	144945010	1419012	9462	11608											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	238					2.24722e-20	2.51766e-20	1	1	0	T	144947078	G	T	144947078	3	4	22	1	0	0	0	0	1	0	0	0	5218	971	34	2	6922	2	EPPK1	8	144947078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2068	144947078	1416944	9463	11609											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436759.2_Silent_p.P4287P|PLEC_ENST00000527096.1_Silent_p.P4283P|PLEC_ENST00000354958.2_Silent_p.P4238P|PLEC_ENST00000354589.3_Silent_p.P4260P|PLEC_ENST00000398774.2_Silent_p.P4228P|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													35	347					0	0	1	0	0	A	144991209	G	A	144991209	2	1	22	1	0	0	0	0	0	0	0	1	12100	1103	39	1		1	PLEC	8	144991209	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44131	144991209	1372813	9464	11610											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436759.2_Silent_p.T4175T|PLEC_ENST00000527096.1_Silent_p.T4171T|PLEC_ENST00000354958.2_Silent_p.T4126T|PLEC_ENST00000354589.3_Silent_p.T4148T|PLEC_ENST00000398774.2_Silent_p.T4116T|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													71	328					0	0	1	0	0	T	144991545	C	T	144991545	2	4	22	1	0	0	0	0	0	0	0	1	12100	639	23	1		1	PLEC	8	144991545	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	336	144991545	1372477	9465	11611											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436759.2_Silent_p.T4157T|PLEC_ENST00000527096.1_Silent_p.T4153T|PLEC_ENST00000354958.2_Silent_p.T4108T|PLEC_ENST00000354589.3_Silent_p.T4130T|PLEC_ENST00000398774.2_Silent_p.T4098T|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													24	351					0	0	1	0	0	T	144991599	C	T	144991599	2	4	22	1	0	0	0	0	0	0	0	1	12100	523	19	1		1	PLEC	8	144991599	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54	144991599	1372423	9466	11612											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436759.2_Missense_Mutation_p.T4122M|PLEC_ENST00000527096.1_Missense_Mutation_p.T4118M|PLEC_ENST00000354958.2_Missense_Mutation_p.T4073M|PLEC_ENST00000354589.3_Missense_Mutation_p.T4095M|PLEC_ENST00000398774.2_Missense_Mutation_p.T4063M|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													96	419					0	0	1	0	0	A	144991705	G	A	144991705	3	1	22	1	0	0	0	0	1	0	0	0	12100	1145	40	1	1363	1	PLEC	8	144991705	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106	144991705	1372317	9467	11613											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436759.2_Missense_Mutation_p.N3691S|PLEC_ENST00000527096.1_Missense_Mutation_p.N3687S|PLEC_ENST00000354958.2_Missense_Mutation_p.N3642S|PLEC_ENST00000354589.3_Missense_Mutation_p.N3664S|PLEC_ENST00000398774.2_Missense_Mutation_p.N3632S|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													43	321					0	0	1	0	0	C	144992998	T	C	144992998	3	2	22	1	0	0	0	0	1	0	0	0	12100	1725	60	3	2656	3	PLEC	8	144992998	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1293	144992998	1371024	9468	11614											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436759.2_Missense_Mutation_p.D3036G|PLEC_ENST00000527096.1_Missense_Mutation_p.D3032G|PLEC_ENST00000354958.2_Missense_Mutation_p.D2987G|PLEC_ENST00000354589.3_Missense_Mutation_p.D3009G|PLEC_ENST00000398774.2_Missense_Mutation_p.D2977G|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													60	273					0	0	1	0	0	C	144994963	T	C	144994963	3	2	22	1	0	0	0	0	1	0	0	0	12100	1667	58	3	4621	3	PLEC	8	144994963	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1965	144994963	1369059	9469	11615											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436759.2_Missense_Mutation_p.L2833M|PLEC_ENST00000527096.1_Missense_Mutation_p.L2829M|PLEC_ENST00000354958.2_Missense_Mutation_p.L2784M|PLEC_ENST00000354589.3_Missense_Mutation_p.L2806M|PLEC_ENST00000398774.2_Missense_Mutation_p.L2774M|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													110	532					6.01805e-51	7.46351e-51	1	1	0	T	144995573	G	T	144995573	3	4	22	1	0	0	0	0	1	0	0	0	12100	962	34	2	5231	2	PLEC	8	144995573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	610	144995573	1368449	9470	11616											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436759.2_Silent_p.L2737L|PLEC_ENST00000527096.1_Silent_p.L2733L|PLEC_ENST00000354958.2_Silent_p.L2688L|PLEC_ENST00000354589.3_Silent_p.L2710L|PLEC_ENST00000398774.2_Silent_p.L2678L|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													68	324					0	0	1	0	0	A	144995861	G	A	144995861	2	1	22	1	0	0	0	0	0	0	0	1	12100	962	34	2		2	PLEC	8	144995861	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	288	144995861	1368161	9471	11617											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436759.2_Silent_p.D2714D|PLEC_ENST00000527096.1_Silent_p.D2710D|PLEC_ENST00000354958.2_Silent_p.D2665D|PLEC_ENST00000354589.3_Silent_p.D2687D|PLEC_ENST00000398774.2_Silent_p.D2655D|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													69	304					0	0	1	0	0	A	144995928	G	A	144995928	2	1	22	1	0	0	0	0	0	0	0	1	12100	1136	40	1		1	PLEC	8	144995928	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	144995928	1368094	9472	11618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436759.2_Nonsense_Mutation_p.E2453*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E2449*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E2404*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E2426*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.E2394*|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													26	123					1.77063e-15	1.9355e-15	1	1	0	A	144996821	C	A	144996821	4	1	22	1	0	0	0	0	0	1	0	0	12100	864	30	2	6375	2	PLEC	8	144996821	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	893	144996821	1367201	9473	11619											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436759.2_Missense_Mutation_p.A2280T|PLEC_ENST00000527096.1_Missense_Mutation_p.A2276T|PLEC_ENST00000354958.2_Missense_Mutation_p.A2231T|PLEC_ENST00000354589.3_Missense_Mutation_p.A2253T|PLEC_ENST00000398774.2_Missense_Mutation_p.A2221T|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													42	146					0	0	1	0	0	T	144997340	C	T	144997340	3	4	22	1	0	0	0	0	1	0	0	0	12100	768	27	1	6894	1	PLEC	8	144997340	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	519	144997340	1366682	9474	11620											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436759.2_Missense_Mutation_p.R2261C|PLEC_ENST00000527096.1_Missense_Mutation_p.R2257C|PLEC_ENST00000354958.2_Missense_Mutation_p.R2212C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2234C|PLEC_ENST00000398774.2_Missense_Mutation_p.R2202C|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													38	167					0	0	1	0	0	A	144997397	G	A	144997397	3	1	22	1	0	0	0	0	1	0	0	0	12100	1087	38	1	6951	1	PLEC	8	144997397	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57	144997397	1366625	9475	11621											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436759.2_Silent_p.A2160A|PLEC_ENST00000527096.1_Silent_p.A2156A|PLEC_ENST00000354958.2_Silent_p.A2111A|PLEC_ENST00000354589.3_Silent_p.A2133A|PLEC_ENST00000398774.2_Silent_p.A2101A|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													28	131					0	0	1	0	0	T	144997698	C	T	144997698	2	4	22	1	0	0	0	0	0	0	0	1	12100	639	23	1		1	PLEC	8	144997698	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	301	144997698	1366324	9476	11622											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145001678delA	ENST00000322810.4	-	27	4236	c.4067delT	c.(4066-4068)tgfs	p.L1356fs	PLEC_ENST00000356346.3_Frame_Shift_Del_p.L1205fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.L1246fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.L1187fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.L1219fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.L1219fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.L1242fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.L1197fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.L1223fs	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													32	162	---	---	---	---						-	145001678	A	-	145001678	7	5	22	1	0	1	0	1	0	0	0	0	12100	131	5	0	10011	0	PLEC	8	145001678	Frame_Shift_Del	DEL	A	TCGA-IB-7651-01A-11D-2154-08	3980	145001678	1362344	9477	11623											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436759.2_Missense_Mutation_p.Q893H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q889H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q844H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q866H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q834H|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													14	42					1.5842e-08	1.65642e-08	1	1	0	A	145004326	C	A	145004326	3	1	22	1	0	0	0	0	1	0	0	0	12100	680	24	2	11093	2	PLEC	8	145004326	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2648	145004326	1359696	9478	11624											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436759.2_Missense_Mutation_p.Q563P|PLEC_ENST00000527096.1_Missense_Mutation_p.Q559P|PLEC_ENST00000354958.2_Missense_Mutation_p.Q514P|PLEC_ENST00000354589.3_Missense_Mutation_p.Q536P|PLEC_ENST00000398774.2_Missense_Mutation_p.Q504P|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													34	153					0	0	1	0	0	G	145007091	T	G	145007091	3	3	22	1	0	0	0	0	1	0	0	0	12100	1580	55	3	12112	3	PLEC	8	145007091	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2765	145007091	1356931	9479	11625											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436759.2_Silent_p.R451R|PLEC_ENST00000527096.1_Silent_p.R447R|PLEC_ENST00000354958.2_Silent_p.R402R|PLEC_ENST00000354589.3_Silent_p.R424R|PLEC_ENST00000398774.2_Silent_p.R392R|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													63	307					5.80444e-35	6.91851e-35	1	1	0	A	145007511	C	A	145007511	2	1	22	1	0	0	0	0	0	0	0	1	12100	726	26	2		2	PLEC	8	145007511	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	420	145007511	1356511	9480	11626											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436759.2_Missense_Mutation_p.L405M|PLEC_ENST00000527096.1_Missense_Mutation_p.L401M|PLEC_ENST00000354958.2_Missense_Mutation_p.L356M|PLEC_ENST00000354589.3_Missense_Mutation_p.L378M|PLEC_ENST00000398774.2_Missense_Mutation_p.L346M|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													52	248					6.4308e-24	7.32928e-24	1	1	0	T	145008523	G	T	145008523	3	4	22	1	0	0	0	0	1	0	0	0	12100	991	35	2	12599	2	PLEC	8	145008523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1012	145008523	1355499	9481	11627											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000354958.2_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													8	79					0	0	1	0	0	A	145024727	G	A	145024727	3	1	22	1	0	0	0	0	1	0	0	0	12100	1087	38	1	14414	1	PLEC	8	145024727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16204	145024727	1339295	9482	11628											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000354958.2_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													13	72					0	0	1	0	0	T	145024774	C	T	145024774	3	4	22	1	0	0	0	0	1	0	0	0	12100	768	27	1	14461	1	PLEC	8	145024774	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47	145024774	1339248	9483	11629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000524918.1_Nonsense_Mutation_p.E688*|PARP10_ENST00000525773.1_Nonsense_Mutation_p.E709*	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													19	60					1.45105e-14	1.57787e-14	1	1	0	A	145057668	C	A	145057668	4	1	22	1	0	0	0	0	0	1	0	0	11502	922	32	2	1004	2	PARP10	8	145057668	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32894	145057668	1306354	9484	11630											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	334					0	0	1	0	0	G	145095869	A	G	145095869	2	3	22	1	0	0	0	0	0	0	0	1	15073	146	6	3		3	SPATC1	8	145095869	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	38201	145095869	1268153	9485	11631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	102					0	0	1	0	0	T	145109470	C	T	145109470	3	4	22	1	0	0	0	0	1	0	0	0	10924	864	30	2	1224	2	OPLAH	8	145109470	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13601	145109470	1254552	9486	11632											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	299					0	0	1	0	0	A	145111082	G	A	145111082	2	1	22	1	0	0	0	0	0	0	0	1	10924	1161	41	2		2	OPLAH	8	145111082	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1612	145111082	1252940	9487	11633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	160					0	0	1	0	0	T	145112597	C	T	145112597	2	4	22	1	0	0	0	0	0	0	0	1	10924	639	23	1		1	OPLAH	8	145112597	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1515	145112597	1251425	9488	11634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	148					0	0	1	0	0	T	145114642	C	T	145114642	3	4	22	1	0	0	0	0	1	0	0	0	10924	768	27	1	3745	1	OPLAH	8	145114642	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2045	145114642	1249380	9489	11635											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	254					3.07002e-29	3.58444e-29	1	1	0	T	145114814	G	T	145114814	3	4	22	1	0	0	0	0	1	0	0	0	10924	1203	42	2	3850	2	OPLAH	8	145114814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	172	145114814	1249208	9490	11636											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001907.2	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													12	47					5.16669e-11	5.49905e-11	1	1	0	A	145151980	C	A	145151980	2	1	22	1	0	0	0	0	0	0	0	1	4158	668	24	2		2	CYC1	8	145151980	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37166	145151980	1212042	9491	11637											
BOP1	23246	broad.mit.edu	37	chr8	145512876	145512876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgtcatcatcctcactgCtgtcactgccggaatcttcc	6	16	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145512876C>T	ENST00000307404.5	-	2	238	c.209G>A	c.(208-210)aGc>aAc	p.S70N	BOP1_ENST00000529231.1_5'UTR	NM_015201.3	NP_056016.1	Q14137	BOP1_HUMAN	block of proliferation 1	70					cell proliferation|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	nucleoplasm|PeBoW complex	protein binding			lung(1)|urinary_tract(2)	3	all_cancers(97;4.06e-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;2.61e-39)|all cancers(56;1.37e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.087)			ATCCTCACTGCTGTCACTGCC	0.597													68	384					0	0	1	0	0	T	145512876	C	T	145512876	3	4	22	1	0	0	0	0	1	0	0	0	1489	797	28	2	2091	2	BOP1	8	145512876	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	360896	145512876	851146	9492	11638											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	173					0	0	1	0	0	A	145533580	G	A	145533580	2	1	22	1	0	0	0	0	0	0	0	1	7436	962	34	2		2	HSF1	8	145533580	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20704	145533580	830442	9493	11639											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	323					0	0	1	0	0	T	145541760	C	T	145541760	3	4	22	1	0	0	0	0	1	0	0	0	4485	768	27	1	757	1	DGAT1	8	145541760	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8180	145541760	822262	9494	11640											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													3	18					0	0	1	0	0	T	145542724	C	T	145542724	3	4	22	1	0	0	0	0	1	0	0	0	4485	797	28	2	1230	2	DGAT1	8	145542724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	964	145542724	821298	9495	11641											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	142					0	0	1	0	0	A	145620531	G	A	145620531	3	1	22	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	9496	11642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	753					2.1672e-28	2.52168e-28	1	1	0	A	145623813	C	A	145623813	3	1	22	1	0	0	0	0	1	0	0	0	3847	912	32	2	2638	2	CPSF1	8	145623813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3282	145623813	740209	9497	11643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	443					3.24273e-39	3.91873e-39	1	1	0	A	145625850	C	A	145625850	3	1	22	1	0	0	0	0	1	0	0	0	3847	739	26	2	3731	2	CPSF1	8	145625850	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2037	145625850	738172	9498	11644											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000531013.1_5'UTR|SLC39A4_ENST00000301305.3_Missense_Mutation_p.A532T	NM_017767.2	NP_060237.2	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													9	58					0	0	1	0	0	T	145638654	C	T	145638654	3	4	22	1	0	0	0	0	1	0	0	0	14675	739	26	2	361	2	SLC39A4	8	145638654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12804	145638654	725368	9499	11645											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_017767.2	NP_060237.2	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													70	365					1.74474e-33	2.06836e-33	1	1	0	T	145640153	G	T	145640153	3	4	22	1	0	0	0	0	1	0	0	0	14675	1174	41	2	1043	2	SLC39A4	8	145640153	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1499	145640153	723869	9500	11646											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_017767.2	NP_060237.2	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													7	48					0	0	1	0	0	G	145641572	A	G	145641572	2	3	22	1	0	0	0	0	0	0	0	1	14675	117	5	3		3	SLC39A4	8	145641572	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1419	145641572	722450	9501	11647											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-2517M14.5_ENST00000569326.1_RNA|CTD-2517M22.14_ENST00000532766.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.R88C			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													31	223					0	0	1	0	0	T	145724155	C	T	145724155	3	4	22	1	0	0	0	0	1	0	0	0	12414	652	23	1	268	1	PPP1R16A	8	145724155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82583	145724155	639867	9502	11648											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.N171T			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													11	82					0	0	1	0	0	C	145725514	A	C	145725514	3	2	22	1	0	0	0	0	1	0	0	0	12414	43	2	3	526	3	PPP1R16A	8	145725514	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1359	145725514	638508	9503	11649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	140					2.17888e-05	2.22852e-05	1	1	0	T	145729820	G	T	145729820	3	4	22	1	0	0	0	0	1	0	0	0	6778	971	34	2	135	2	GPT	8	145729820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4306	145729820	634202	9504	11650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				23	76					0	0	1	0	0	A	145740380	G	A	145740380	2	1	22	1	0	0	0	0	0	0	0	1	13254	1194	42	2		2	RECQL4	8	145740380	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10560	145740380	623642	9505	11651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				61	252					0	0	1	0	0	A	145741444	G	A	145741444	2	1	22	1	0	0	0	0	0	0	0	1	13254	1140	40	1		1	RECQL4	8	145741444	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1064	145741444	622578	9506	11652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	346					0	0	1	0	0	A	145745329	G	A	145745329	3	1	22	1	0	0	0	0	1	0	0	0	9013	1319	46	2	222	2	LRRC14	8	145745329	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3885	145745329	618693	9507	11653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	480					0	0	1	0	0	T	145745828	C	T	145745828	3	4	22	1	0	0	0	0	1	0	0	0	9013	768	27	1	542	1	LRRC14	8	145745828	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	499	145745828	618194	9508	11654											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	351					0	0	1	0	0	A	145746029	G	A	145746029	3	1	22	1	0	0	0	0	1	0	0	0	9013	1087	38	1	743	1	LRRC14	8	145746029	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201	145746029	617993	9509	11655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377307.2_Missense_Mutation_p.E970K|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E939K			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													19	115					0	0	1	0	0	T	145757761	C	T	145757761	3	4	22	1	0	0	0	0	1	0	0	0	881	893	31	1	448	1	ARHGAP39	8	145757761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11732	145757761	606261	9510	11656											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E745K|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E745K			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													26	231					0	0	1	0	0	T	145770921	C	T	145770921	3	4	22	1	0	0	0	0	1	0	0	0	881	893	31	1	1139	1	ARHGAP39	8	145770921	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13160	145770921	593101	9511	11657											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377307.2_Missense_Mutation_p.N696K|ARHGAP39_ENST00000540274.1_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													28	225					1.75199e-13	1.89187e-13	1	1	0	T	145771066	G	T	145771066	3	4	22	1	0	0	0	0	1	0	0	0	881	1020	36	2	1284	2	ARHGAP39	8	145771066	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145	145771066	592956	9512	11658											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	385					0	0	1	0	0	A	145948338	G	A	145948338	3	1	22	1	0	0	0	0	1	0	0	0	17854	1116	39	1	1312	1	ZNF251	8	145948338	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177272	145948338	415684	9513	11659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	108					0	0	1	0	0	T	145999156	C	T	145999156	3	4	22	1	0	0	0	0	1	0	0	0	17913	710	25	2	508	2	ZNF34	8	145999156	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50818	145999156	364866	9514	11660											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525105.1_Intron|ZNF517_ENST00000531720.1_Missense_Mutation_p.A456T|ZNF517_ENST00000526178.1_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													17	63					0	0	1	0	0	A	146033667	G	A	146033667	3	1	22	1	0	0	0	0	1	0	0	0	18018	1087	38	1	1380	1	ZNF517	8	146033667	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34511	146033667	330355	9515	11661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417550.2_Silent_p.P361P|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron	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													62	259					3.07184e-27	3.5546e-27	1	1	0	T	146107485	G	T	146107485	2	4	22	1	0	0	0	0	0	0	0	1	17853	987	35	2		2	ZNF250	8	146107485	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73818	146107485	256537	9516	11662											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	312					0	0	1	0	0	G	146156950	T	G	146156950	3	3	22	1	0	0	0	0	1	0	0	0	17796	1493	52	3	829	3	ZNF16	8	146156950	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49465	146156950	207072	9517	11663											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	411					0	0	1	0	0	A	146278525	G	A	146278525	2	1	22	1	0	0	0	0	0	0	0	1	2438	1045	37	1		1	C8orf33	8	146278525	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121575	146278525	85497	9518	11664											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	483					0	0	1	0	0	T	117437	C	T	117437	3	4	22	1	0	0	0	0	1	0	0	0	6032	768	27	1	640	1	FOXD4	9	117437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08		117437	141095994	9519	11665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	510					0	0	1	0	0	A	118009	G	A	118009	2	1	22	1	0	0	0	0	0	0	0	1	6032	1136	40	1		1	FOXD4	9	118009	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	572	118009	141095422	9520	11666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000469391.1_Missense_Mutation_p.P626S|DOCK8_ENST00000453981.1_Missense_Mutation_p.P694S|DOCK8_ENST00000382331.1_5'UTR	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													60	313					0	0	1	0	0	T	372257	C	T	372257	3	4	22	1	0	0	0	0	1	0	0	0	4720	739	26	2	2150	2	DOCK8	9	372257	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	254248	372257	140841174	9521	11667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000469391.1_Missense_Mutation_p.P642H|DOCK8_ENST00000453981.1_Missense_Mutation_p.P710H|DOCK8_ENST00000382331.1_Missense_Mutation_p.P12H	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													103	442					1.61456e-63	2.03829e-63	1	1	0	A	376229	C	A	376229	3	1	22	1	0	0	0	0	1	0	0	0	4720	681	24	2	2203	2	DOCK8	9	376229	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3972	376229	140837202	9522	11668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000469391.1_Missense_Mutation_p.A841V|DOCK8_ENST00000453981.1_Missense_Mutation_p.A909V|DOCK8_ENST00000382331.1_Missense_Mutation_p.A211V	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													7	386					0	0	1	0	0	T	382633	C	T	382633	3	4	22	1	0	0	0	0	1	0	0	0	4720	768	27	1	2812	1	DOCK8	9	382633	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6404	382633	140830798	9523	11669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000469391.1_Missense_Mutation_p.R1263W|DOCK8_ENST00000453981.1_Missense_Mutation_p.R1363W	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													63	429					0	0	1	0	0	T	421012	C	T	421012	3	4	22	1	0	0	0	0	1	0	0	0	4720	643	23	1	4213	1	DOCK8	9	421012	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38379	421012	140792419	9524	11670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382297.2_Missense_Mutation_p.E607D|KANK1_ENST00000489369.1_3'UTR|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													57	295					9.72345e-25	1.11288e-24	1	1	0	T	712587	G	T	712587	3	4	22	1	0	0	0	0	1	0	0	0	8020	991	35	2	1827	2	KANK1	9	712587	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	291575	712587	140500844	9525	11671											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	217					3.99451e-17	4.40333e-17	1	1	0	T	847106	G	T	847106	3	4	22	1	0	0	0	0	1	0	0	0	4613	962	34	2	507	2	DMRT1	9	847106	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134519	847106	140366325	9526	11672											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	84					0	0	1	0	0	T	977109	C	T	977109	2	4	22	1	0	0	0	0	0	0	0	1	4615	755	27	1		1	DMRT3	9	977109	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130003	977109	140236322	9527	11673											
SMARCA2	6595	broad.mit.edu	37	chr9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-													agcaacaacagcagcagcaaCagcagcagcagcagcagcag					rs113070757	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2039777_2039779delCAG	ENST00000382203.1	+	4	876_878	c.667_669delCAG	c.(667-669)del	p.Q238del	SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	238	Poly-Gln.			Missing (in Ref. 1; CAA51407).	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)		gcagcagcaacagcagcagcagc	0.635													14	152	---	---	---	---						-	2039779	CAG	-	2039777	7	5	22	1	0	1	0	1	0	0	0	0	14823	479	17	0	677	0	SMARCA2	9	2039777	In_Frame_Del	DEL	CAG	TCGA-IB-7651-01A-11D-2154-08	1062668	2039777	139173654	9528	11674											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	199					0	0	1	0	0	T	2073274	C	T	2073274	2	4	22	1	0	0	0	0	0	0	0	1	14823	697	25	2		2	SMARCA2	9	2073274	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33497	2073274	139140157	9529	11675											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	581					0	0	1	0	0	T	2104068	C	T	2104068	3	4	22	1	0	0	0	0	1	0	0	0	14823	768	27	1	3277	1	SMARCA2	9	2104068	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30794	2104068	139109363	9530	11676											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	228					0	0	1	0	0	T	2119478	C	T	2119478	2	4	22	1	0	0	0	0	0	0	0	1	14823	535	19	1		1	SMARCA2	9	2119478	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15410	2119478	139093953	9531	11677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2643913G>T	ENST00000382100.2	+	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	340	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													12	471					0.010729	0.0107869	1	1	0	T	2643913	G	T	2643913	3	4	22	1	0	0	0	0	1	0	0	0	17234	991	35	2	1046	2	VLDLR	9	2643913	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	524435	2643913	138569518	9532	11678											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	436					0	0	1	0	0	T	2717904	C	T	2717904	2	4	22	1	0	0	0	0	0	0	0	1	8139	874	31	1		1	KCNV2	9	2717904	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73991	2717904	138495527	9533	11679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	79					0	0	1	0	0	A	2718157	G	A	2718157	3	1	22	1	0	0	0	0	1	0	0	0	8139	1058	37	1	420	1	KCNV2	9	2718157	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	253	2718157	138495274	9534	11680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	196					0	0	1	0	0	A	2719093	G	A	2719093	3	1	22	1	0	0	0	0	1	0	0	0	8139	1087	38	1	1356	1	KCNV2	9	2719093	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	936	2719093	138494338	9535	11681											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	498					0	0	1	0	0	T	2811514	C	T	2811514	2	4	22	1	0	0	0	0	0	0	0	1	8194	697	25	2		2	KIAA0020	9	2811514	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92421	2811514	138401917	9536	11682											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.D872G	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													40	184					0	0	1	0	0	C	3829351	T	C	3829351	3	2	22	1	0	0	0	0	1	0	0	0	6489	1435	50	3	185	3	GLIS3	9	3829351	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1017837	3829351	137384080	9537	11683											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	399					0	0	1	0	0	T	4118509	C	T	4118509	2	4	22	1	0	0	0	0	0	0	0	1	6489	755	27	1		1	GLIS3	9	4118509	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	289158	4118509	137094922	9538	11684											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	471					0	0	1	0	0	T	4286138	C	T	4286138	2	4	22	1	0	0	0	0	0	0	0	1	6489	755	27	1		1	GLIS3	9	4286138	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167629	4286138	136927293	9539	11685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	282					0	0	1	0	0	T	4576049	C	T	4576049	2	4	22	1	0	0	0	0	0	0	0	1	14486	871	31	1		1	SLC1A1	9	4576049	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	289911	4576049	136637382	9540	11686											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	497					4.70087e-54	5.86491e-54	1	1	0	T	4576732	G	T	4576732	3	4	22	1	0	0	0	0	1	0	0	0	14486	1174	41	2	1200	2	SLC1A1	9	4576732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	683	4576732	136636699	9541	11687											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	379					0	0	1	0	0	C	4576765	T	C	4576765	5	2	22	1	0	0	0	0	0	0	1	0	14486	1710	59	3	1233	3	SLC1A1	9	4576765	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33	4576765	136636666	9542	11688											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	529					0	0	1	0	0	T	4583161	C	T	4583161	2	4	22	1	0	0	0	0	0	0	0	1	14486	871	31	1		1	SLC1A1	9	4583161	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6396	4583161	136630270	9543	11689											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381858.1_Missense_Mutation_p.G49E|CDC37L1_ENST00000479095.1_3'UTR	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													37	175					0	0	1	0	0	A	4684890	G	A	4684890	3	1	22	1	0	0	0	0	1	0	0	0	3091	1174	41	2	152	2	CDC37L1	9	4684890	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101729	4684890	136528541	9544	11690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447596.4_Missense_Mutation_p.R54M|AK3_ENST00000359883.2_Missense_Mutation_p.R24M	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													22	205					5.26018e-13	5.6673e-13	1	1	0	A	4719298	C	A	4719298	3	1	22	1	0	0	0	0	1	0	0	0	438	681	24	2	414	2	AK3	9	4719298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34408	4719298	136494133	9545	11691											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5069022C>T	ENST00000381652.3	+	11	1821	c.1326_splice	c.e11-1	p.R443_splice	JAK2_ENST00000544510.1_Splice_Site_p.R294_splice|JAK2_ENST00000539801.1_Splice_Site_p.R443_splice	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				28	213					0	0	1	0	0	T	5069022	C	T	5069022	5	4	22	1	0	0	0	0	0	0	1	0	7982	782	27	1	1361	1	JAK2	9	5069022	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	349724	5069022	136144409	9546	11692											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				94	644					1.66795e-42	2.03135e-42	1	1	0	T	5073726	G	T	5073726	3	4	22	1	0	0	0	0	1	0	0	0	7982	971	34	2	1851	2	JAK2	9	5073726	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4704	5073726	136139705	9547	11693											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	340					0	0	1	0	0	A	5164187	G	A	5164187	3	1	22	1	0	0	0	0	1	0	0	0	7814	1294	45	2	277	2	INSL6	9	5164187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90461	5164187	136049244	9548	11694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	295					0	0	1	0	0	A	5300153	G	A	5300153	3	1	22	1	0	0	0	0	1	0	0	0	13444	971	34	2	58	2	RLN2	9	5300153	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135966	5300153	135913278	9549	11695											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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, "								36	228					0	0	1	0	0	T	5467858	C	T	5467858	3	4	22	1	0	0	0	0	1	0	0	0	3013	536	19	1	891	1	CD274	9	5467858	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167705	5467858	135745573	9550	11696											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381532.2_Missense_Mutation_p.G463C|KIAA1432_ENST00000418622.3_Missense_Mutation_p.G463C|KIAA1432_ENST00000251879.6_Missense_Mutation_p.G542C|KIAA1432_ENST00000449720.2_Missense_Mutation_p.G426C	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													34	383					8.73648e-17	9.61379e-17	1	1	0	T	5754862	G	T	5754862	3	4	22	1	0	0	0	0	1	0	0	0	8275	1000	35	2	1441	2	KIAA1432	9	5754862	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	287004	5754862	135458569	9551	11697											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000418622.3_Missense_Mutation_p.D1340E|KIAA1432_ENST00000449720.2_Missense_Mutation_p.D1303E	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													54	203					1.59911e-31	1.88313e-31	1	1	0	A	5774231	C	A	5774231	3	1	22	1	0	0	0	0	1	0	0	0	8275	564	20	2	4192	2	KIAA1432	9	5774231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19369	5774231	135439200	9552	11698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	457					0	0	1	0	0	G	5920791	A	G	5920791	2	3	22	1	0	0	0	0	0	0	0	1	8312	41	2	3		3	KIAA2026	9	5920791	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	146560	5920791	135292640	9553	11699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	158					9.39395e-14	1.01619e-13	1	1	0	A	6007544	C	A	6007544	3	1	22	1	0	0	0	0	1	0	0	0	8312	623	22	2	6099	2	KIAA2026	9	6007544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86753	6007544	135205887	9554	11700											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	166					3.59834e-05	3.67436e-05	1	1	0	T	6014119	G	T	6014119	3	4	22	1	0	0	0	0	1	0	0	0	13083	933	33	2	1832	2	RANBP6	9	6014119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6575	6014119	135199312	9555	11701											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	222					3.07112e-06	3.16074e-06	1	1	0	A	6014299	C	A	6014299	3	1	22	1	0	0	0	0	1	0	0	0	13083	913	32	2	2012	2	RANBP6	9	6014299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180	6014299	135199132	9556	11702											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000456383.2_Nonsense_Mutation_p.W17*|IL33_ENST00000417746.2_Nonsense_Mutation_p.W17*|IL33_ENST00000463336.1_3'UTR	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													24	124					0	0	1	0	0	A	6241745	G	A	6241745	4	1	22	1	0	0	0	0	0	1	0	0	7737	1183	41	2	53	2	IL33	9	6241745	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227446	6241745	134971686	9557	11703											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000456383.2_Silent_p.R67R|IL33_ENST00000417746.2_Intron	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													68	233					0	0	1	0	0	A	6250583	G	A	6250583	2	1	22	1	0	0	0	0	0	0	0	1	7737	1194	42	2		2	IL33	9	6250583	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8838	6250583	134962848	9558	11704											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	459					0	0	1	0	0	G	6477759	A	G	6477759	3	3	22	1	0	0	0	0	1	0	0	0	17030	449	16	3	1133	3	UHRF2	9	6477759	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	227176	6477759	134735672	9559	11705											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	213					0	0	1	0	0	G	6592198	A	G	6592198	3	3	22	1	0	0	0	0	1	0	0	0	6475	275	10	3	1695	3	GLDC	9	6592198	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	114439	6592198	134621233	9560	11706											
C9orf123	0	broad.mit.edu	37	chr9	7799610	7799610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcaggtcttcaacaggCggtgttctgctggggaggtc	15	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:7799610C>T	ENST00000358227.4	-	1	457	c.125G>A	c.(124-126)cGc>cAc	p.R42H	C9orf123_ENST00000484082.1_Intron	NM_033428.1	NP_219500.1	Q96GE9	CI123_HUMAN		42						integral to membrane				lung(1)	1		all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356)		GBM - Glioblastoma multiforme(50;0.0561)		CTTCAACAGGCGGTGTTCTGC	0.662													65	265					0	0	1	0	0	T	7799610	C	T	7799610	3	4	22	1	0	0	0	0	1	0	0	0	2471	768	27	1	221	1	C9orf123	9	7799610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1207412	7799610	133413821	9561	11707											
C9orf123	0	broad.mit.edu	37	chr9	7799703	7799703	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgggaggcgcagtgatatagGactcaaaaggctgggacaac	15	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:7799703G>T	ENST00000358227.4	-	1	364	c.32C>A	c.(31-33)tCc>tAc	p.S11Y	C9orf123_ENST00000484082.1_Intron	NM_033428.1	NP_219500.1	Q96GE9	CI123_HUMAN		11						integral to membrane				lung(1)	1		all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356)		GBM - Glioblastoma multiforme(50;0.0561)		AGTGATATAGGACTCAAAAGG	0.642													27	175					5.77227e-19	6.42407e-19	1	1	0	T	7799703	G	T	7799703	3	4	22	1	0	0	0	0	1	0	0	0	2471	1174	41	2	314	2	C9orf123	9	7799703	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93	7799703	133413728	9562	11708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397606.3_Missense_Mutation_p.A1309T|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1309T|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1309T|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1716T|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1306T|PTPRD_ENST00000355233.5_Missense_Mutation_p.A1310T|PTPRD_ENST00000537002.1_Missense_Mutation_p.A1306T|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1694T|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1703T|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)			24	196					0	0	1	0	0	T	8340450	C	T	8340450	3	4	22	1	0	0	0	0	1	0	0	0	12851	768	27	1	612	1	PTPRD	9	8340450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	540747	8340450	132872981	9563	11709											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397606.3_Missense_Mutation_p.R1089Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1089Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1089Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1496Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1086Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1090Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1086Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1474Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1483Q|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)			56	228					0	0	1	0	0	T	8376626	C	T	8376626	3	4	22	1	0	0	0	0	1	0	0	0	12851	884	31	1	1287	1	PTPRD	9	8376626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36176	8376626	132836805	9564	11710											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397606.3_Silent_p.N58N|PTPRD_ENST00000486161.1_Silent_p.N58N|PTPRD_ENST00000397617.3_Silent_p.N58N|PTPRD_ENST00000356435.5_Silent_p.N58N|PTPRD_ENST00000397611.3_Silent_p.N58N|PTPRD_ENST00000355233.5_Silent_p.N58N|PTPRD_ENST00000463477.1_Silent_p.N58N|PTPRD_ENST00000537002.1_Silent_p.N58N|PTPRD_ENST00000358503.5_Silent_p.N58N|PTPRD_ENST00000360074.4_Silent_p.N58N|PTPRD_ENST00000540109.1_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)			96	532					0	0	1	0	0	A	8636735	G	A	8636735	2	1	22	1	0	0	0	0	0	0	0	1	12851	1368	48	2		2	PTPRD	9	8636735	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	260109	8636735	132576696	9565	11711											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397606.3_Missense_Mutation_p.P24S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P24S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P24S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P24S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P24S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P24S|PTPRD_ENST00000463477.1_Missense_Mutation_p.P24S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P24S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P24S|PTPRD_ENST00000360074.4_Missense_Mutation_p.P24S|PTPRD_ENST00000540109.1_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)			56	340					0	0	1	0	0	A	8636839	G	A	8636839	3	1	22	1	0	0	0	0	1	0	0	0	12851	1174	41	2	5872	2	PTPRD	9	8636839	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104	8636839	132576592	9566	11712											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473504.1_3'UTR|TYRP1_ENST00000381136.2_Silent_p.G195G|TYRP1_ENST00000381137.2_Silent_p.G194G|RP11-3L8.3_ENST00000417638.1_RNA	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				10	284					1.58986e-06	1.64048e-06	1	1	0	A	12709023	C	A	12709023	2	1	22	1	0	0	0	0	0	0	0	1	16878	755	27	4		4	TYRP1	9	12709023	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4072184	12709023	128504408	9567	11713											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447879.1_Missense_Mutation_p.S1560Y|MPDZ_ENST00000319217.7_Missense_Mutation_p.S1593Y|MPDZ_ENST00000381015.4_Missense_Mutation_p.S1593Y|MPDZ_ENST00000541718.1_Missense_Mutation_p.S1593Y|MPDZ_ENST00000538841.1_Missense_Mutation_p.S452Y|MPDZ_ENST00000381022.2_Missense_Mutation_p.S1593Y|MPDZ_ENST00000536827.1_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													74	366					8.06533e-24	9.18926e-24	1	1	0	T	13125244	G	T	13125244	1	4	22	1	0	0	0	0	0	0	0	0	9771	942	33	2		2	MPDZ	9	13125244	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	416221	13125244	128088187	9568	11714											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447879.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.G709*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000381022.2_Nonsense_Mutation_p.G709*|MPDZ_ENST00000536827.1_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													12	117					0.000978159	0.000988919	1	1	0	A	13190142	C	A	13190142	4	1	22	1	0	0	0	0	0	1	0	0	9771	690	24	2	4124	2	MPDZ	9	13190142	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64898	13190142	128023289	9569	11715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447879.1_Silent_p.E15E|MPDZ_ENST00000381015.4_Silent_p.E15E|MPDZ_ENST00000541718.1_Silent_p.E15E|MPDZ_ENST00000381022.2_Silent_p.E15E|MPDZ_ENST00000536827.1_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													19	1176					0	0	1	0	0	T	13247772	C	T	13247772	2	4	22	1	0	0	0	0	0	0	0	1	9771	796	28	2		2	MPDZ	9	13247772	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57630	13247772	127965659	9570	11716											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397575.3_Missense_Mutation_p.P539L|NFIB_ENST00000397579.2_Missense_Mutation_p.P465L|NFIB_ENST00000380959.3_3'UTR|NFIB_ENST00000543693.1_Missense_Mutation_p.P287L|NFIB_ENST00000380953.1_3'UTR|NFIB_ENST00000380934.4_3'UTR			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"								11	47					0	0	1	0	0	A	14088266	G	A	14088266	3	1	22	1	0	0	0	0	1	0	0	0	10418	1131	39	1		1	NFIB	9	14088266	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	840494	14088266	127125165	9571	11717											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397575.3_Silent_p.K47K|NFIB_ENST00000397579.2_Silent_p.K47K|NFIB_ENST00000397581.2_Silent_p.K47K|NFIB_ENST00000380921.3_Silent_p.K47K|NFIB_ENST00000380953.1_Silent_p.K47K|NFIB_ENST00000380934.4_Silent_p.K73K	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"								63	252					0	0	1	0	0	T	14307409	C	T	14307409	2	4	22	1	0	0	0	0	0	0	0	1	10418	796	28	2		2	NFIB	9	14307409	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219143	14307409	126906022	9572	11718											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	242					0	0	1	0	0	A	14720268	G	A	14720268	2	1	22	1	0	0	0	0	0	0	0	1	3287	1020	36	2		2	CER1	9	14720268	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	412859	14720268	126493163	9573	11719											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	179					0	0	1	0	0	A	14720322	G	A	14720322	2	1	22	1	0	0	0	0	0	0	0	1	3287	1079	38	1		1	CER1	9	14720322	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54	14720322	126493109	9574	11720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380894.1_Nonsense_Mutation_p.E521*|FREM1_ENST00000422223.2_Nonsense_Mutation_p.E1985*|FREM1_ENST00000380880.3_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													91	550					2.68325e-40	3.25214e-40	1	1	0	A	14747318	C	A	14747318	4	1	22	1	0	0	0	0	0	1	0	0	6079	922	32	2	606	2	FREM1	9	14747318	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26996	14747318	126466113	9575	11721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422223.2_Silent_p.H822H|FREM1_ENST00000380880.3_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													48	180					0	0	1	0	0	A	14819312	G	A	14819312	2	1	22	1	0	0	0	0	0	0	0	1	6079	1136	40	1		1	FREM1	9	14819312	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71994	14819312	126394119	9576	11722											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422223.2_Missense_Mutation_p.D590Y|FREM1_ENST00000380880.3_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													57	451					6.20203e-27	7.16519e-27	1	1	0	A	14841558	C	A	14841558	3	1	22	1	0	0	0	0	1	0	0	0	6079	855	30	2	4933	2	FREM1	9	14841558	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22246	14841558	126371873	9577	11723											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422223.2_Missense_Mutation_p.Q477H|FREM1_ENST00000380880.3_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													13	351					0.000151284	0.000153739	1	1	0	A	14842621	C	A	14842621	3	1	22	1	0	0	0	0	1	0	0	0	6079	680	24	2	5274	2	FREM1	9	14842621	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1063	14842621	126370810	9578	11724											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422223.2_Missense_Mutation_p.D362Y|FREM1_ENST00000380880.3_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													56	226					1.67886e-27	1.94484e-27	1	1	0	A	14851350	C	A	14851350	3	1	22	1	0	0	0	0	1	0	0	0	6079	913	32	2	5633	2	FREM1	9	14851350	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8729	14851350	126362081	9579	11725											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	63					0	0	1	0	0	A	15422996	G	A	15422996	3	1	22	1	0	0	0	0	1	0	0	0	14890	1087	38	1	121	1	SNAPC3	9	15422996	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	571646	15422996	125790435	9580	11726											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380666.2_Missense_Mutation_p.R486H|BNC2_ENST00000380667.2_Missense_Mutation_p.R419H|BNC2_ENST00000545497.1_Missense_Mutation_p.R391H	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													17	524					0	0	1	0	0	T	16436735	C	T	16436735	3	4	22	1	0	0	0	0	1	0	0	0	1474	536	19	1	1850	1	BNC2	9	16436735	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1013739	16436735	124776696	9581	11727											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380666.2_Missense_Mutation_p.T415A|BNC2_ENST00000380667.2_Missense_Mutation_p.T348A|BNC2_ENST00000545497.1_Missense_Mutation_p.T320A	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													53	240					0	0	1	0	0	C	16436949	T	C	16436949	3	2	22	1	0	0	0	0	1	0	0	0	1474	1725	60	3	2064	3	BNC2	9	16436949	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	214	16436949	124776482	9582	11728											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380666.2_Missense_Mutation_p.T374A|BNC2_ENST00000380667.2_Missense_Mutation_p.T307A|BNC2_ENST00000545497.1_Missense_Mutation_p.T279A	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													65	294					0	0	1	0	0	C	16437072	T	C	16437072	3	2	22	1	0	0	0	0	1	0	0	0	1474	1696	59	3	2187	3	BNC2	9	16437072	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	123	16437072	124776359	9583	11729											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000262360.5_Silent_p.T374T|CNTLN_ENST00000380641.4_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													30	177					0	0	1	0	0	G	17298326	A	G	17298326	2	3	22	1	0	0	0	0	0	0	0	1	3662	175	7	3		3	CNTLN	9	17298326	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	861254	17298326	123915105	9584	11730											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	491					0	0	1	0	0	C	17330786	A	C	17330786	3	2	22	1	0	0	0	0	1	0	0	0	3662	72	3	3	1562	3	CNTLN	9	17330786	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32460	17330786	123882645	9585	11731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	209					0.000602214	0.000609647	1	1	0	T	17340942	G	T	17340942	3	4	22	1	0	0	0	0	1	0	0	0	3662	1348	47	2	1834	2	CNTLN	9	17340942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10156	17340942	123872489	9586	11732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	237					0	0	1	0	0	C	17394704	A	C	17394704	3	2	22	1	0	0	0	0	1	0	0	0	3662	14	1	3	2340	3	CNTLN	9	17394704	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	53762	17394704	123818727	9587	11733											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	186					3.28513e-13	3.54196e-13	1	1	0	T	17466758	G	T	17466758	3	4	22	1	0	0	0	0	1	0	0	0	3662	1203	42	2	3844	2	CNTLN	9	17466758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72054	17466758	123746673	9588	11734											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000327883.7_Silent_p.C162C|ADAMTSL1_ENST00000380566.4_Silent_p.C162C|ADAMTSL1_ENST00000380570.4_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													64	263					0	0	1	0	0	T	18622252	C	T	18622252	2	4	22	1	0	0	0	0	0	0	0	1	273	776	27	1		1	ADAMTSL1	9	18622252	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1155494	18622252	122591179	9589	11735											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													178	815					0	0	1	0	0	A	18681875	G	A	18681875	3	1	22	1	0	0	0	0	1	0	0	0	273	1319	46	2	1453	2	ADAMTSL1	9	18681875	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59623	18681875	122531556	9590	11736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	555					0	0	1	0	0	A	18721548	G	A	18721548	3	1	22	1	0	0	0	0	1	0	0	0	273	1377	48	2	1953	2	ADAMTSL1	9	18721548	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39673	18721548	122491883	9591	11737											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	42					0	0	1	0	0	T	18777494	C	T	18777494	2	4	22	1	0	0	0	0	0	0	0	1	273	639	23	1		1	ADAMTSL1	9	18777494	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55946	18777494	122435937	9592	11738											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	90					0	0	1	0	0	A	18892409	G	A	18892409	3	1	22	1	0	0	0	0	1	0	0	0	273	1319	46	2	4772	2	ADAMTSL1	9	18892409	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114915	18892409	122321022	9593	11739											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542071.1_Missense_Mutation_p.I40L|FAM154A_ENST00000380530.1_3'UTR	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													11	377					0	0	1	0	0	G	18928781	T	G	18928781	3	3	22	1	0	0	0	0	1	0	0	0	5493	1493	52	3	734	3	FAM154A	9	18928781	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	36372	18928781	122284650	9594	11740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	196					0	0	1	0	0	T	19050016	C	T	19050016	3	4	22	1	0	0	0	0	1	0	0	0	13724	739	26	2	361	2	RRAGA	9	19050016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121235	19050016	122163415	9595	11741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	167					1.12685e-05	1.15515e-05	1	1	0	A	19050182	C	A	19050182	3	1	22	1	0	0	0	0	1	0	0	0	13724	709	25	2	527	2	RRAGA	9	19050182	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	166	19050182	122163249	9596	11742											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_017645.3	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													28	170					4.59853e-10	4.86106e-10	1	1	0	A	19089409	C	A	19089409	5	1	22	1	0	0	0	0	0	0	1	0	7011	579	20	2	2334	2	HAUS6	9	19089409	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39227	19089409	122124022	9597	11743											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19346246G>T	ENST00000307015.9	+	19	2795	c.1043G>T	c.(1042-1044)aGg>aTg	p.R348M	DENND4C_ENST00000602925.1_Missense_Mutation_p.R1111M|DENND4C_ENST00000540671.1_Missense_Mutation_p.R205M|DENND4C_ENST00000380432.2_Missense_Mutation_p.R875M|DENND4C_ENST00000434457.2_Missense_Mutation_p.R1160M			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	875	dDENN.					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													126	522					6.92432e-61	8.71362e-61	1	1	0	T	19346246	G	T	19346246	3	4	22	1	0	0	0	0	1	0	0	0	4463	1000	35	2	2694	2	DENND4C	9	19346246	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	256837	19346246	121867185	9598	11744											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380381.3_3'UTR|RPS6_ENST00000315377.4_Silent_p.R54R|RPS6_ENST00000380384.1_Silent_p.R54R	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													22	170					0	0	1	0	0	C	19378800	T	C	19378800	2	2	22	1	0	0	0	0	0	0	0	1	13701	1664	58	3		3	RPS6	9	19378800	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32554	19378800	121834631	9599	11745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	425					0	0	1	0	0	A	19786640	G	A	19786640	2	1	22	1	0	0	0	0	0	0	0	1	14521	1190	42	2		2	SLC24A2	9	19786640	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	407840	19786640	121426791	9600	11746											
PTPLAD2	401494	broad.mit.edu	37	chr9	21007045	21007046	+	Frame_Shift_Ins	INS	-	-	T													atgctgtacttcacatcttcINSttttttttaatgggaaagat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21007045_21007046insT	ENST00000495827.1	-	7	734_735	c.689_690insA	c.(688-690)aaafs	p.K230fs	PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	230	Poly-Lys.				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TTCACATCTTCTTTTTTTTAAT	0.371													9	409	---	---	---	---						T	21007046	-	T	21007045	7	5	22	1	0	1	1	0	0	0	0	0	12826	912	32	0	12	0	PTPLAD2	9	21007045	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	1220405	21007045	120206386	9601	11747											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	1839					0	0	1	0	0	C	21206625	T	C	21206625	3	2	22	1	0	0	0	0	1	0	0	0	7576	1792	62	3	101	3	IFNA10	9	21206625	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	199580	21206625	120006806	9602	11748											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	526					0	0	1	0	0	T	21217213	C	T	21217213	3	4	22	1	0	0	0	0	1	0	0	0	7579	797	28	2	481	2	IFNA16	9	21217213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10588	21217213	119996218	9603	11749											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	332					0	0	1	0	0	G	21333707	T	G	21333707	2	3	22	1	0	0	0	0	0	0	0	1	8439	1451	51	3		3	KLHL9	9	21333707	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	116494	21333707	119879724	9604	11750											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	392					0	0	1	0	0	T	21334090	C	T	21334090	3	4	22	1	0	0	0	0	1	0	0	0	8439	565	20	2	1088	2	KLHL9	9	21334090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	383	21334090	119879341	9605	11751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380110.4_Missense_Mutation_p.C346Y|ELAVL2_ENST00000223951.6_Missense_Mutation_p.C303Y|ELAVL2_ENST00000544538.1_Missense_Mutation_p.C316Y|ELAVL2_ENST00000380117.1_Missense_Mutation_p.C316Y	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													80	420					0	0	1	0	0	T	23692688	C	T	23692688	3	4	22	1	0	0	0	0	1	0	0	0	5078	710	25	2	136	2	ELAVL2	9	23692688	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2358598	23692688	117520743	9606	11752											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380110.4_Missense_Mutation_p.R265C|ELAVL2_ENST00000223951.6_Missense_Mutation_p.R236C|ELAVL2_ENST00000544538.1_Missense_Mutation_p.R236C|ELAVL2_ENST00000380117.1_Missense_Mutation_p.R236C	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													37	911					0	0	1	0	0	A	23701384	G	A	23701384	3	1	22	1	0	0	0	0	1	0	0	0	5078	1087	38	1	385	1	ELAVL2	9	23701384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8696	23701384	117512047	9607	11753											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380110.4_Silent_p.R145R|ELAVL2_ENST00000223951.6_Silent_p.R116R|ELAVL2_ENST00000544538.1_Silent_p.R116R|ELAVL2_ENST00000380117.1_Silent_p.R116R	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													85	344					0	0	1	0	0	A	23705055	G	A	23705055	2	1	22	1	0	0	0	0	0	0	0	1	5078	1190	42	2		2	ELAVL2	9	23705055	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3671	23705055	117508376	9608	11754											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000462649.1_5'UTR|ELAVL2_ENST00000397312.2_Intron|ELAVL2_ENST00000223951.6_Intron|ELAVL2_ENST00000544538.1_Intron|ELAVL2_ENST00000380117.1_Intron			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													102	382					0	0	1	0	0	A	23765066	G	A	23765066	2	1	22	1	0	0	0	0	0	0	0	1	5078	1044	36	2		2	ELAVL2	9	23765066	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60011	23765066	117448365	9609	11755											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	195					0	0	1	0	0	A	26905793	G	A	26905793	2	1	22	1	0	0	0	0	0	0	0	1	12059	933	33	2		2	PLAA	9	26905793	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3140727	26905793	114307638	9610	11756											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	332					0	0	1	0	0	C	26910348	T	C	26910348	3	2	22	1	0	0	0	0	1	0	0	0	12059	1638	57	3	754	3	PLAA	9	26910348	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4555	26910348	114303083	9611	11757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429045.2_Missense_Mutation_p.R70H|IFT74_ENST00000380062.5_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													11	273					0	0	1	0	0	A	26978214	G	A	26978214	3	1	22	1	0	0	0	0	1	0	0	0	7607	1087	38	1	215	1	IFT74	9	26978214	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67866	26978214	114235217	9612	11758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000450.2	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													14	618					0	0	1	0	0	G	27190608	A	G	27190608	3	3	22	1	0	0	0	0	1	0	0	0	15810	391	14	3	1447	3	TEK	9	27190608	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	212394	27190608	114022823	9613	11759											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000450.2	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													82	389					0	0	1	0	0	T	27197484	C	T	27197484	3	4	22	1	0	0	0	0	1	0	0	0	15810	893	31	1	1842	1	TEK	9	27197484	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6876	27197484	114015947	9614	11760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000450.2	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													77	698					0	0	1	0	0	A	27204926	G	A	27204926	3	1	22	1	0	0	0	0	1	0	0	0	15810	1000	35	2	2281	2	TEK	9	27204926	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7442	27204926	114008505	9615	11761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	170					0	0	1	0	0	A	27524894	G	A	27524894	3	1	22	1	0	0	0	0	1	0	0	0	7595	1058	37	1	562	1	IFNK	9	27524894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	319968	27524894	113688537	9616	11762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	615					0	0	1	0	0	A	27950337	G	A	27950337	2	1	22	1	0	0	0	0	0	0	0	1	8856	1190	42	2		2	LINGO2	9	27950337	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	425443	27950337	113263094	9617	11763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32418495G>A	ENST00000379923.1	+	7	850	c.644G>A	c.(643-645)gGc>gAc	p.G215D	ACO1_ENST00000541043.1_Missense_Mutation_p.G116D|ACO1_ENST00000309951.5_Missense_Mutation_p.G215D	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	215					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													19	734					0	0	1	0	0	A	32418495	G	A	32418495	3	1	22	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	9618	11764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545044.1_Missense_Mutation_p.I142T|DDX58_ENST00000379883.2_Missense_Mutation_p.I345T|DDX58_ENST00000542096.1_Missense_Mutation_p.I274T|DDX58_ENST00000379868.1_Missense_Mutation_p.I142T			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													98	328					0	0	1	0	0	G	32488121	A	G	32488121	3	3	22	1	0	0	0	0	1	0	0	0	4398	101	4	3	1787	3	DDX58	9	32488121	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69626	32488121	108725310	9619	11765											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	378					0	0	1	0	0	G	32541482	T	G	32541482	3	3	22	1	0	0	0	0	1	0	0	0	16431	1725	60	3	100	3	TOPORS	9	32541482	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	53361	32541482	108671949	9620	11766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	334					0	0	1	0	0	T	32542990	C	T	32542990	2	4	22	1	0	0	0	0	0	0	0	1	16431	912	32	2		2	TOPORS	9	32542990	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1508	32542990	108670441	9621	11767											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	286					2.48909e-17	2.74552e-17	1	1	0	A	32543588	C	A	32543588	3	1	22	1	0	0	0	0	1	0	0	0	16431	855	30	2	2206	2	TOPORS	9	32543588	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	598	32543588	108669843	9622	11768											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	411					0	0	1	0	0	G	32544209	A	G	32544209	3	3	22	1	0	0	0	0	1	0	0	0	16431	449	16	3	2827	3	TOPORS	9	32544209	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	621	32544209	108669222	9623	11769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	663					2.37509e-13	2.56396e-13	1	1	0	T	32632632	G	T	32632632	3	4	22	1	0	0	0	0	1	0	0	0	15580	933	33	2	2538	2	TAF1L	9	32632632	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88423	32632632	108580799	9624	11770											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	614					0	0	1	0	0	A	32633981	G	A	32633981	3	1	22	1	0	0	0	0	1	0	0	0	15580	1174	41	2	3887	2	TAF1L	9	32633981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1349	32633981	108579450	9625	11771											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	517					0	0	1	0	0	C	32634136	T	C	32634136	3	2	22	1	0	0	0	0	1	0	0	0	15580	1841	64	3	4042	3	TAF1L	9	32634136	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	155	32634136	108579295	9626	11772											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	310					0	0	1	0	0	T	32784835	C	T	32784835	2	4	22	1	0	0	0	0	0	0	0	1	16198	576	20	2		2	TMEM215	9	32784835	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150699	32784835	108428596	9627	11773											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000463596.1_Missense_Mutation_p.S142I|APTX_ENST00000379825.2_Missense_Mutation_p.S156I|APTX_ENST00000309615.3_Missense_Mutation_p.S156I|APTX_ENST00000379819.1_Missense_Mutation_p.S156I|APTX_ENST00000379813.3_Missense_Mutation_p.S142I|APTX_ENST00000468275.1_Missense_Mutation_p.S142I|APTX_ENST00000476858.1_Missense_Mutation_p.S102I|APTX_ENST00000436040.2_Missense_Mutation_p.S142I|APTX_ENST00000397172.3_Intron			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					109	560					9.98844e-40	1.20852e-39	1	1	0	A	32987600	C	A	32987600	3	1	22	1	0	0	0	0	1	0	0	0	817	797	28	2	632	2	APTX	9	32987600	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202765	32987600	108225831	9628	11774											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_5'UTR	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													9	501					0.00621372	0.0062537	1	1	0	A	33029948	C	A	33029948	3	1	22	1	0	0	0	0	1	0	0	0	4638	564	20	2	386	2	DNAJA1	9	33029948	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42348	33029948	108183483	9629	11775											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000495015.1_3'UTR|DNAJA1_ENST00000544625.1_Silent_p.G80G	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													12	155					0	0	1	0	0	T	33034281	C	T	33034281	2	4	22	1	0	0	0	0	0	0	0	1	4638	755	27	1		1	DNAJA1	9	33034281	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4333	33034281	108179150	9630	11776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_004314.5	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													55	266					0	0	1	0	0	C	33264396	T	C	33264396	3	2	22	1	0	0	0	0	1	0	0	0	1284	1667	58	3	788	3	BAG1	9	33264396	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	230115	33264396	107949035	9631	11777											
AQP7	364	broad.mit.edu	37	chr9	33385585	33385585	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccctcacatcaccccccacCcctcaacacacaggggaccc	4	24	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33385585C>A	ENST00000541274.1	-	5	859	c.410G>T	c.(409-411)gGg>gTg	p.G137V	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR			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)		CACCCCCCACCCCTCAACACA	0.602													6	286					0.000274275	0.000278163	1	1	0	A	33385585	C	A	33385585	3	1	22	1	0	0	0	0	1	0	0	0	828	638	22	2		2	AQP7	9	33385585	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121189	33385585	107827846	9632	11778											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377425.4_Silent_p.V189V|AQP7_ENST00000539936.1_Silent_p.V246V|AQP7_ENST00000537089.1_Silent_p.V154V			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													92	513					0	0	1	0	0	A	33385652	G	A	33385652	3	1	22	1	0	0	0	0	1	0	0	0	828	929	33	2	298	2	AQP7	9	33385652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	33385652	107827779	9633	11779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	70					1.52009e-12	1.63397e-12	1	1	0	T	33447441	G	T	33447441	3	4	22	1	0	0	0	0	1	0	0	0	824	991	35	2	814	2	AQP3	9	33447441	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61789	33447441	107765990	9634	11780											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000464829.1_Intron|NOL6_ENST00000379471.2_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													6	203					3.59834e-05	3.67436e-05	1	1	0	T	33463341	G	T	33463341	2	4	22	1	0	0	0	0	0	0	0	1	10572	987	35	2		2	NOL6	9	33463341	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15900	33463341	107750090	9635	11781											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	1367					0	0	1	0	0	T	33468760	C	T	33468760	2	4	22	1	0	0	0	0	0	0	0	1	10572	709	25	2		2	NOL6	9	33468760	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5419	33468760	107744671	9636	11782											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	1031					0	0	1	0	0	A	33468868	G	A	33468868	2	1	22	1	0	0	0	0	0	0	0	1	10572	1190	42	2		2	NOL6	9	33468868	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108	33468868	107744563	9637	11783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539807.1_Missense_Mutation_p.G813D|UBAP2_ENST00000449054.1_Missense_Mutation_p.G1058D|UBAP2_ENST00000379235.1_Missense_Mutation_p.G297D|UBAP2_ENST00000379239.4_Missense_Mutation_p.G791D|UBAP2_ENST00000360802.1_Missense_Mutation_p.G1058D			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													71	291					0	0	1	0	0	T	33922776	C	T	33922776	3	4	22	1	0	0	0	0	1	0	0	0	16898	739	26	2	194	2	UBAP2	9	33922776	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	453908	33922776	107290655	9638	11784											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539807.1_Missense_Mutation_p.V55A|UBAP2_ENST00000449054.1_Missense_Mutation_p.V300A|UBAP2_ENST00000418786.2_Missense_Mutation_p.V247A|UBAP2_ENST00000379239.4_Missense_Mutation_p.V33A|UBAP2_ENST00000360802.1_Missense_Mutation_p.V300A			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													37	214					0	0	1	0	0	G	33953440	A	G	33953440	3	3	22	1	0	0	0	0	1	0	0	0	16898	43	2	3	2532	3	UBAP2	9	33953440	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30664	33953440	107259991	9639	11785											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539807.1_5'UTR|UBAP2_ENST00000449054.1_Silent_p.T25T|UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000418786.2_Silent_p.T25T|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000360802.1_Silent_p.T25T			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													35	354					0	0	1	0	0	T	34017072	C	T	34017072	2	4	22	1	0	0	0	0	0	0	0	1	16898	755	27	1		1	UBAP2	9	34017072	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63632	34017072	107196359	9640	11786											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379174.3_Silent_p.I352I|KIF24_ENST00000402558.2_Silent_p.I486I	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													18	82					0	0	1	0	0	A	34263156	G	A	34263156	2	1	22	1	0	0	0	0	0	0	0	1	8334	1164	41	2		2	KIF24	9	34263156	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	246084	34263156	106950275	9641	11787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	239					0	0	1	0	0	A	34372078	G	A	34372078	2	1	22	1	0	0	0	0	0	0	0	1	8253	1136	40	1		1	KIAA1161	9	34372078	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108922	34372078	106841353	9642	11788											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379127.1_Missense_Mutation_p.P151H|C9orf24_ENST00000481295.1_5'UTR|C9orf24_ENST00000379133.3_3'UTR|C9orf24_ENST00000297623.2_3'UTR|C9orf24_ENST00000379126.3_Missense_Mutation_p.P98H			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)	49	218					2.01807e-28	2.34828e-28	1	1	0	T	34379117	G	T	34379117	3	4	22	1	0	0	0	0	1	0	0	0	2493	1000	35	2	46	2	C9orf24	9	34379117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7039	34379117	106834314	9643	11789											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34500719G>T	ENST00000242317.4	+	11	1072		c.e11-1			NM_012144.2	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)	14	100					0.000219431	0.000222766	1	1	0	T	34500719	G	T	34500719	5	4	22	1	0	0	0	0	0	0	1	0	4636	956	33	2	943	2	DNAI1	9	34500719	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121602	34500719	106712712	9644	11790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_012144.2	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				55	288					3.89483e-19	4.33865e-19	1	1	0	A	34506735	C	A	34506735	3	1	22	1	0	0	0	0	1	0	0	0	4636	594	21	2	1224	2	DNAI1	9	34506735	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6016	34506735	106706696	9645	11791											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	183					0.00448238	0.00451339	1	1	0	A	34621468	C	A	34621468	3	1	22	1	0	0	0	0	1	0	0	0	915	797	28	2	15	2	ARID3C	9	34621468	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114733	34621468	106591963	9646	11792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000277010.4_Silent_p.H154H|SIGMAR1_ENST00000477726.1_Silent_p.H123H			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													41	232					0	0	1	0	0	A	34635839	G	A	34635839	2	1	22	1	0	0	0	0	0	0	0	1	14371	1136	40	1		1	SIGMAR1	9	34635839	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14371	34635839	106577592	9647	11793											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				98	400					1.96202e-32	2.31699e-32	1	1	0	A	34648390	C	A	34648390	2	1	22	1	0	0	0	0	0	0	0	1	6270	668	24	2		2	GALT	9	34648390	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12551	34648390	106565041	9648	11794											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	183					1.03484e-13	1.11885e-13	1	1	0	T	34662348	G	T	34662348	3	4	22	1	0	0	0	0	1	0	0	0	2919	962	34	2	210	2	CCL27	9	34662348	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13958	34662348	106551083	9649	11795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	278					0	0	1	0	0	T	34709608	A	T	34709608	3	4	22	1	0	0	0	0	1	0	0	0	2913	217	8	5	152	5	CCL21	9	34709608	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47260	34709608	106503823	9650	11796											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	340					5.92634e-42	7.20812e-42	1	1	0	T	34972508	G	T	34972508	3	4	22	1	0	0	0	0	1	0	0	0	8249	1000	35	2	550	2	KIAA1045	9	34972508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262900	34972508	106240923	9651	11797											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545841.1_Silent_p.Q66Q|DNAJB5_ENST00000312316.5_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													111	456					0	0	1	0	0	A	34993428	G	A	34993428	2	1	22	1	0	0	0	0	0	0	0	1	4650	1020	36	2		2	DNAJB5	9	34993428	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20920	34993428	106220003	9652	11798											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354479.5_Silent_p.S524S|C9orf131_ENST00000421362.2_Silent_p.S549S	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													184	635					3.95954e-90	5.08228e-90	1	1	0	A	35044417	C	A	35044417	2	1	22	1	0	0	0	0	0	0	0	1	2475	668	24	2		2	C9orf131	9	35044417	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50989	35044417	106169014	9653	11799											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354479.5_Silent_p.S724S|C9orf131_ENST00000421362.2_Silent_p.S749S	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													209	1075					0	0	1	0	0	T	35045017	C	T	35045017	2	4	22	1	0	0	0	0	0	0	0	1	2475	738	26	2		2	C9orf131	9	35045017	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	600	35045017	106168414	9654	11800											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					47	314					0	0	1	0	0	T	35075020	C	T	35075020	3	4	22	1	0	0	0	0	1	0	0	0	5701	739	26	2	340	2	FANCG	9	35075020	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30003	35075020	106138411	9655	11801											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341666.3_Missense_Mutation_p.V273I|PIGO_ENST00000361778.2_Missense_Mutation_p.V273I|PIGO_ENST00000298004.5_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													16	130					0	0	1	0	0	T	35093540	C	T	35093540	3	4	22	1	0	0	0	0	1	0	0	0	11942	507	18	2	2480	2	PIGO	9	35093540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18520	35093540	106119891	9656	11802											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341666.3_Silent_p.E112E|PIGO_ENST00000361778.2_Silent_p.E112E|PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000298004.5_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													129	554					0	0	1	0	0	T	35095227	C	T	35095227	2	4	22	1	0	0	0	0	0	0	0	1	11942	912	32	2		2	PIGO	9	35095227	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1687	35095227	106118204	9657	11803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	667					0	0	1	0	0	A	35101137	G	A	35101137	3	1	22	1	0	0	0	0	1	0	0	0	15370	1319	46	2	367	2	STOML2	9	35101137	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5910	35101137	106112294	9658	11804											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	784					0	0	1	0	0	T	35101490	C	T	35101490	3	4	22	1	0	0	0	0	1	0	0	0	15370	768	27	1	578	1	STOML2	9	35101490	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	353	35101490	106111941	9659	11805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	644					0	0	1	0	0	C	35381663	T	C	35381663	2	2	22	1	0	0	0	0	0	0	0	1	17045	1800	63	3		3	UNC13B	9	35381663	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	280173	35381663	105831768	9660	11806											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	313					0	0	1	0	0	T	35403836	C	T	35403836	2	4	22	1	0	0	0	0	0	0	0	1	17045	796	28	2		2	UNC13B	9	35403836	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22173	35403836	105809595	9661	11807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001129471.1	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													46	192					0	0	1	0	0	T	35548113	C	T	35548113	3	4	22	1	0	0	0	0	1	0	0	0	13803	739	26	2	1597	2	RUSC2	9	35548113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144277	35548113	105665318	9662	11808											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001129471.1	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													24	137					0	0	1	0	0	A	35548220	G	A	35548220	3	1	22	1	0	0	0	0	1	0	0	0	13803	1174	41	2	1704	2	RUSC2	9	35548220	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107	35548220	105665211	9663	11809											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	181					6.72482e-11	7.15107e-11	1	1	0	A	35563812	C	A	35563812	3	1	22	1	0	0	0	0	1	0	0	0	5512	797	28	2	656	2	FAM166B	9	35563812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15592	35563812	105649619	9664	11810											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	393					2.4624e-09	2.59004e-09	1	1	0	A	35609358	C	A	35609358	2	1	22	1	0	0	0	0	0	0	0	1	15826	668	24	2		2	TESK1	9	35609358	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45546	35609358	105604073	9665	11811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	217					0	0	1	0	0	G	35675756	A	G	35675756	5	3	22	1	0	0	0	0	0	0	1	0	2542	202	7	3	442	3	CA9	9	35675756	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	66398	35675756	105537675	9666	11812											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35685060C>A	ENST00000378292.3	-	6	1842		c.e6+1		TPM2_ENST00000378300.5_Intron|TPM2_ENST00000329305.2_Intron|TPM2_ENST00000360958.2_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													100	367					8.87708e-63	1.11928e-62	1	1	0	A	35685060	C	A	35685060	5	1	22	1	0	0	0	0	0	0	1	0	16467	521	18	2	397	2	TPM2	9	35685060	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9304	35685060	105528371	9667	11813											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378300.5_Silent_p.R90R|TPM2_ENST00000329305.2_Silent_p.R90R|TPM2_ENST00000360958.2_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													77	367					0	0	1	0	0	A	35685748	G	A	35685748	2	1	22	1	0	0	0	0	0	0	0	1	16467	1190	42	2		2	TPM2	9	35685748	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	688	35685748	105527683	9668	11814											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	288					0.00307968	0.00310409	1	1	0	A	35697899	C	A	35697899	3	1	22	1	0	0	0	0	1	0	0	0	16007	680	24	2	114	2	TLN1	9	35697899	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12151	35697899	105515532	9669	11815											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	208					0	0	1	0	0	C	35699410	A	C	35699410	3	2	22	1	0	0	0	0	1	0	0	0	16007	246	9	3	836	3	TLN1	9	35699410	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1511	35699410	105514021	9670	11816											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	522					0	0	1	0	0	A	35705570	G	A	35705570	3	1	22	1	0	0	0	0	1	0	0	0	16007	1087	38	1	1974	1	TLN1	9	35705570	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6160	35705570	105507861	9671	11817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	363					0	0	1	0	0	A	35707247	G	A	35707247	3	1	22	1	0	0	0	0	1	0	0	0	16007	1057	37	1	2932	1	TLN1	9	35707247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1677	35707247	105506184	9672	11818											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	287					0	0	1	0	0	G	35708471	A	G	35708471	3	3	22	1	0	0	0	0	1	0	0	0	16007	188	7	3	3384	3	TLN1	9	35708471	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1224	35708471	105504960	9673	11819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	440					0	0	1	0	0	G	35714813	C	G	35714813	3	3	22	1	0	0	0	0	1	0	0	0	16007	797	28	5	4954	5	TLN1	9	35714813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6342	35714813	105498618	9674	11820											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	524					0	0	1	0	0	T	35715097	C	T	35715097	3	4	22	1	0	0	0	0	1	0	0	0	16007	710	25	2	5060	2	TLN1	9	35715097	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	284	35715097	105498334	9675	11821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	326					0	0	1	0	0	A	35715139	G	A	35715139	3	1	22	1	0	0	0	0	1	0	0	0	16007	1086	38	1	5102	1	TLN1	9	35715139	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42	35715139	105498292	9676	11822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													164	941					0	0	1	0	0	T	35725685	C	T	35725685	3	4	22	1	0	0	0	0	1	0	0	0	16007	710	25	2	7842	2	TLN1	9	35725685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10546	35725685	105487746	9677	11823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	423					0	0	1	0	0	T	35737268	C	T	35737268	2	4	22	1	0	0	0	0	0	0	0	1	6307	796	28	2		2	GBA2	9	35737268	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11583	35737268	105476163	9678	11824											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378103.3_Missense_Mutation_p.R514H|GBA2_ENST00000545786.1_Missense_Mutation_p.R520H|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													23	180					0	0	1	0	0	T	35739666	C	T	35739666	3	4	22	1	0	0	0	0	1	0	0	0	6307	768	27	1	1278	1	GBA2	9	35739666	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2398	35739666	105473765	9679	11825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378103.3_Missense_Mutation_p.T334M|GBA2_ENST00000545786.1_Missense_Mutation_p.T340M|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													68	265					0	0	1	0	0	A	35740847	G	A	35740847	3	1	22	1	0	0	0	0	1	0	0	0	6307	1145	40	1	1834	1	GBA2	9	35740847	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1181	35740847	105472584	9680	11826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378103.3_Silent_p.Y228Y|GBA2_ENST00000545786.1_Silent_p.Y234Y|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													105	466					0	0	1	0	0	A	35741771	G	A	35741771	2	1	22	1	0	0	0	0	0	0	0	1	6307	1256	44	2		2	GBA2	9	35741771	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	924	35741771	105471660	9681	11827											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	GBA2_ENST00000545786.1_Intron|RGP1_ENST00000378078.4_5'UTR			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													18	112					1.33834e-09	1.40959e-09	1	1	0	T	35749374	G	T	35749374	3	4	22	1	0	0	0	0	1	0	0	0	13336	1000	35	2	76	2	RGP1	9	35749374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7603	35749374	105464057	9682	11828											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	414					9.95505e-16	1.08957e-15	1	1	0	A	35792966	C	A	35792966	2	1	22	1	0	0	0	0	0	0	0	1	10643	900	32	2		2	NPR2	9	35792966	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43592	35792966	105420465	9683	11829											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	354					2.48295e-43	3.03066e-43	1	1	0	A	35805906	C	A	35805906	3	1	22	1	0	0	0	0	1	0	0	0	10643	796	28	2	2181	2	NPR2	9	35805906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12940	35805906	105407525	9684	11830											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000484764.1_Missense_Mutation_p.E271A|SPAG8_ENST00000479751.1_5'UTR|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													12	864					0	0	1	0	0	G	35811225	T	G	35811225	3	3	22	1	0	0	0	0	1	0	0	0	15040	1783	62	3	914	3	SPAG8	9	35811225	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5319	35811225	105402206	9685	11831											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	141					0	0	1	0	0	T	35811564	C	T	35811564	3	4	22	1	0	0	0	0	1	0	0	0	15040	739	26	2	1253	2	SPAG8	9	35811564	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	339	35811564	105401867	9686	11832											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473947.1_Intron|TMEM8B_ENST00000439587.2_Silent_p.P40P|TMEM8B_ENST00000377991.4_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													42	207					0	0	1	0	0	A	35842555	G	A	35842555	2	1	22	1	0	0	0	0	0	0	0	1	16275	1045	37	1		1	TMEM8B	9	35842555	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30991	35842555	105370876	9687	11833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	293					0	0	1	0	0	T	35870113	C	T	35870113	3	4	22	1	0	0	0	0	1	0	0	0	10992	478	17	2	655	2	OR13J1	9	35870113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27558	35870113	105343318	9688	11834											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	329					0	0	1	0	0	A	35957155	G	A	35957155	3	1	22	1	0	0	0	0	1	0	0	0	11063	1348	47	2	22	2	OR2S2	9	35957155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87042	35957155	105256276	9689	11835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	338					1.13148e-14	1.23148e-14	1	1	0	T	36102199	G	T	36102199	3	4	22	1	0	0	0	0	1	0	0	0	13252	933	33	2	1453	2	RECK	9	36102199	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145044	36102199	105111232	9690	11836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	273					0	0	1	0	0	A	36118895	G	A	36118895	3	1	22	1	0	0	0	0	1	0	0	0	13252	1145	40	1	2465	1	RECK	9	36118895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16696	36118895	105094536	9691	11837											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_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													17	166					9.7654e-05	9.93505e-05	1	1	0	A	36148567	C	A	36148567	3	1	22	1	0	0	0	0	1	0	0	0	6486	536	19	4	156	4	GLIPR2	9	36148567	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29672	36148567	105064864	9692	11838											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	382					0	0	1	0	0	A	36169849	G	A	36169849	3	1	22	1	0	0	0	0	1	0	0	0	2898	1058	37	1	352	1	CCIN	9	36169849	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21282	36169849	105043582	9693	11839											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	422					0	0	1	0	0	A	36169888	G	A	36169888	3	1	22	1	0	0	0	0	1	0	0	0	2898	1145	40	1	391	1	CCIN	9	36169888	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	36169888	105043543	9694	11840											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539208.1_Missense_Mutation_p.A526V|GNE_ENST00000539815.1_Missense_Mutation_p.A636V|GNE_ENST00000377902.5_Missense_Mutation_p.A636V|GNE_ENST00000447283.2_Missense_Mutation_p.A562V|GNE_ENST00000543356.2_Missense_Mutation_p.A631V	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													192	738					0	0	1	0	0	A	36218206	G	A	36218206	3	1	22	1	0	0	0	0	1	0	0	0	6564	1087	38	1	269	1	GNE	9	36218206	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48318	36218206	104995225	9695	11841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539208.1_Silent_p.Q244Q|GNE_ENST00000539815.1_Silent_p.Q354Q|GNE_ENST00000377902.5_Silent_p.Q354Q|GNE_ENST00000447283.2_Silent_p.Q354Q|GNE_ENST00000543356.2_Silent_p.Q349Q	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													99	446					0	0	1	0	0	T	36229026	C	T	36229026	2	4	22	1	0	0	0	0	0	0	0	1	6564	564	20	2		2	GNE	9	36229026	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10820	36229026	104984405	9696	11842											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541717.1_Missense_Mutation_p.A79T|MELK_ENST00000538311.1_5'UTR|MELK_ENST00000298048.2_Missense_Mutation_p.A79T|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000536987.1_5'UTR|MELK_ENST00000545008.1_Missense_Mutation_p.A79T|MELK_ENST00000536860.1_Missense_Mutation_p.A79T|MELK_ENST00000536329.1_Intron	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													21	416					0	0	1	0	0	A	36589623	G	A	36589623	3	1	22	1	0	0	0	0	1	0	0	0	9520	971	34	2	245	2	MELK	9	36589623	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	360597	36589623	104623808	9697	11843											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541717.1_Missense_Mutation_p.S606Y|MELK_ENST00000538311.1_Missense_Mutation_p.S453Y|MELK_ENST00000298048.2_Missense_Mutation_p.S647Y|MELK_ENST00000536987.1_Missense_Mutation_p.S516Y|MELK_ENST00000545008.1_Missense_Mutation_p.S576Y|MELK_ENST00000536860.1_Missense_Mutation_p.S599Y|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													38	142					3.62531e-18	4.01709e-18	1	1	0	A	36677318	C	A	36677318	3	1	22	1	0	0	0	0	1	0	0	0	9520	913	32	2	2006	2	MELK	9	36677318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87695	36677318	104536113	9698	11844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377847.2_Missense_Mutation_p.D193N|PAX5_ENST00000377853.2_Missense_Mutation_p.D193N|PAX5_ENST00000523145.1_Missense_Mutation_p.D85N|PAX5_ENST00000377852.2_Missense_Mutation_p.D193N|PAX5_ENST00000523241.1_Missense_Mutation_p.D193N|PAX5_ENST00000522003.1_Missense_Mutation_p.D85N|PAX5_ENST00000414447.1_Intron|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000446742.1_Missense_Mutation_p.D127N|PAX5_ENST00000520154.1_Missense_Mutation_p.D193N	NM_016734.1	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"								10	84					0	0	1	0	0	T	37002672	C	T	37002672	3	4	22	1	0	0	0	0	1	0	0	0	11529	884	31	1	622	1	PAX5	9	37002672	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325354	37002672	104210759	9699	11845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377847.2_Missense_Mutation_p.P130H|PAX5_ENST00000377853.2_Missense_Mutation_p.P130H|PAX5_ENST00000523145.1_Missense_Mutation_p.P22H|PAX5_ENST00000377852.2_Missense_Mutation_p.P130H|PAX5_ENST00000523241.1_Missense_Mutation_p.P130H|PAX5_ENST00000522003.1_Missense_Mutation_p.P22H|PAX5_ENST00000414447.1_Missense_Mutation_p.P130H|PAX5_ENST00000520281.1_Missense_Mutation_p.P130H|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000520154.1_Missense_Mutation_p.P130H	NM_016734.1	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"								26	1081					7.33628e-21	8.23749e-21	1	1	0	T	37015015	G	T	37015015	3	4	22	1	0	0	0	0	1	0	0	0	11529	1000	35	2	818	2	PAX5	9	37015015	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12343	37015015	104198416	9700	11846											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	271					0	0	1	0	0	T	37441319	C	T	37441319	2	4	22	1	0	0	0	0	0	0	0	1	17610	871	31	1		1	ZBTB5	9	37441319	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	426304	37441319	103772112	9701	11847											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37498087G>T	ENST00000377792.3	+	8	1226		c.e8-1		POLR1E_ENST00000442009.2_Splice_Site|POLR1E_ENST00000377798.4_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													6	312					0.248553	0.24873	1	1	0	T	37498087	G	T	37498087	5	4	22	1	0	0	0	0	0	0	1	0	12261	985	34	2	786	2	POLR1E	9	37498087	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56768	37498087	103715344	9702	11848											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR	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													10	475					0	0	1	0	0	A	37537896	G	A	37537896	2	1	22	1	0	0	0	0	0	0	0	1	5759	1136	40	1		1	FBXO10	9	37537896	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39809	37537896	103675535	9703	11849											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|FRMPD1_ENST00000377765.3_Missense_Mutation_p.Y413C|FRMPD1_ENST00000536622.1_Missense_Mutation_p.Y235C|RP11-613M10.9_ENST00000540557.1_Intron			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													76	373					0	0	1	0	0	G	37735568	A	G	37735568	3	3	22	1	0	0	0	0	1	0	0	0	6092	391	14	3	1284	3	FRMPD1	9	37735568	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	197672	37735568	103477863	9704	11850											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FRMPD1_ENST00000377765.3_Missense_Mutation_p.D865N|RP11-613M10.9_ENST00000540557.1_Intron			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													48	209					0	0	1	0	0	A	37744622	G	A	37744622	3	1	22	1	0	0	0	0	1	0	0	0	6092	1058	37	1	2651	1	FRMPD1	9	37744622	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9054	37744622	103468809	9705	11851											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FRMPD1_ENST00000377765.3_Missense_Mutation_p.G978D|RP11-613M10.9_ENST00000540557.1_Intron			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													131	534					0	0	1	0	0	A	37744962	G	A	37744962	3	1	22	1	0	0	0	0	1	0	0	0	6092	1203	42	2	2991	2	FRMPD1	9	37744962	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	340	37744962	103468469	9706	11852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.G1183*|RP11-613M10.9_ENST00000540557.1_Intron			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													57	327					4.96213e-28	5.76155e-28	1	1	0	T	37745576	G	T	37745576	4	4	22	1	0	0	0	0	0	1	0	0	6092	1001	35	2	3605	2	FRMPD1	9	37745576	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	614	37745576	103467855	9707	11853											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	EXOSC3_ENST00000396521.3_Intron|RP11-613M10.9_ENST00000540557.1_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													38	315					0	0	1	0	0	T	37782101	C	T	37782101	3	4	22	1	0	0	0	0	1	0	0	0	5343	710	25	2	327	2	EXOSC3	9	37782101	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36525	37782101	103431330	9708	11854											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	391					0	0	1	0	0	T	37974723	C	T	37974723	3	4	22	1	0	0	0	0	1	0	0	0	14323	797	28	2	595	2	SHB	9	37974723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192622	37974723	103238708	9709	11855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	460					0	0	1	0	0	A	38396312	G	A	38396312	2	1	22	1	0	0	0	0	0	0	0	1	490	1339	47	2		2	ALDH1B1	9	38396312	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	421589	38396312	102817119	9710	11856											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	153					0	0	1	0	0	C	39109231	A	C	39109231	3	2	22	1	0	0	0	0	1	0	0	0	3671	101	4	3	1615	3	CNTNAP3	9	39109231	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	712919	39109231	102104200	9711	11857											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377659.1_Missense_Mutation_p.R643Q|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.R643Q|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R556Q|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.R550Q	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													5	39					0	0	1	0	0	T	39133078	C	T	39133078	3	4	22	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	9712	11858											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377659.1_Silent_p.P637P|CNTNAP3_ENST00000377656.2_Silent_p.P637P|CNTNAP3_ENST00000358144.2_Silent_p.P550P|CNTNAP3_ENST00000323947.7_Silent_p.P544P	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													16	30					0	0	1	0	0	A	39133095	G	A	39133095	2	1	22	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	9713	11859											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39140635G>T	ENST00000297668.6	-	12	1830	c.1756_splice	c.e12-1	p.S586_splice	CNTNAP3_ENST00000377659.1_Splice_Site_p.S586_splice|CNTNAP3_ENST00000377656.2_Splice_Site_p.S586_splice|CNTNAP3_ENST00000358144.2_Splice_Site_p.S498_splice|CNTNAP3_ENST00000323947.7_Splice_Site_p.A493_splice	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													55	189					4.96213e-28	5.76155e-28	1	1	0	T	39140635	G	T	39140635	5	4	22	1	0	0	0	0	0	0	1	0	3671	985	34	2	2161	2	CNTNAP3	9	39140635	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7540	39140635	102072796	9714	11860											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377659.1_Silent_p.S498S|CNTNAP3_ENST00000377656.2_Silent_p.S498S|CNTNAP3_ENST00000358144.2_Silent_p.S410S|CNTNAP3_ENST00000323947.7_Intron	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													27	155					0	0	1	0	0	A	39149958	G	A	39149958	2	1	22	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	9715	11861											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	469					0	0	1	0	0	A	69238239	G	A	69238239	3	1	22	1	0	0	0	0	1	0	0	0	2734	1145	40	1	566	1	CBWD6	9	69238239	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30088281	69238239	71975192	9716	11862											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	361					0	0	1	0	0	T	71098868	C	T	71098868	2	4	22	1	0	0	0	0	0	0	0	1	11849	726	26	2		2	PGM5	9	71098868	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1860629	71098868	70114563	9717	11863											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71532675C>T	ENST00000265382.3	+	9	1288	c.983_splice	c.e9+1	p.T328_splice	PIP5K1B_ENST00000541509.1_Splice_Site_p.T328_splice	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													50	229					0	0	1	0	0	T	71532675	C	T	71532675	5	4	22	1	0	0	0	0	0	0	1	0	11988	550	19	1	1005	1	PIP5K1B	9	71532675	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	433807	71532675	69680756	9718	11864											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													133	629					0	0	1	0	0	T	71555571	C	T	71555571	3	4	22	1	0	0	0	0	1	0	0	0	11988	855	30	2	1409	2	PIP5K1B	9	71555571	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22896	71555571	69657860	9719	11865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													153	593					0	0	1	0	0	T	71555659	C	T	71555659	2	4	22	1	0	0	0	0	0	0	0	1	11988	547	19	1		1	PIP5K1B	9	71555659	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	71555659	69657772	9720	11866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	112					3.93418e-24	4.48831e-24	1	1	0	A	71628475	C	A	71628475	3	1	22	1	0	0	0	0	1	0	0	0	12551	680	24	2	525	2	PRKACG	9	71628475	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72816	71628475	69584956	9721	11867											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	117					0	0	1	0	0	T	71628546	C	T	71628546	3	4	22	1	0	0	0	0	1	0	0	0	12551	536	19	1	596	1	PRKACG	9	71628546	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71	71628546	69584885	9722	11868											
TJP2	9414	broad.mit.edu	37	chr9	71831325	71831325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactttgaaaatggagaaaCgtcaattgtcatttctgatg	8	7	3	3	rs138241615	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71831325C>T	ENST00000377245.4	+	3	393	c.185C>T	c.(184-186)aCg>aTg	p.T62M	TJP2_ENST00000535702.1_Missense_Mutation_p.T66M|TJP2_ENST00000377259.1_Missense_Mutation_p.T39M|TJP2_ENST00000265384.7_Missense_Mutation_p.T62M|TJP2_ENST00000539225.1_Missense_Mutation_p.T93M|TJP2_ENST00000453658.2_Missense_Mutation_p.T39M|TJP2_ENST00000348208.4_Missense_Mutation_p.T62M	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	62	PDZ 1.				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						AATGGAGAAACGTCAATTGTC	0.512													41	268					0	0	1	0	0	T	71831325	C	T	71831325	3	4	22	1	0	0	0	0	1	0	0	0	15990	536	19	1	352	1	TJP2	9	71831325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202779	71831325	69382106	9723	11869											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535702.1_Missense_Mutation_p.L646M|TJP2_ENST00000265384.7_Missense_Mutation_p.L642M|TJP2_ENST00000539225.1_Missense_Mutation_p.L673M|TJP2_ENST00000453658.2_Missense_Mutation_p.L619M|TJP2_ENST00000348208.4_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													63	297					8.77104e-35	1.04431e-34	1	1	0	A	71851087	C	A	71851087	3	1	22	1	0	0	0	0	1	0	0	0	15990	796	28	2	2131	2	TJP2	9	71851087	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19762	71851087	69362344	9724	11870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535702.1_Missense_Mutation_p.A886V|TJP2_ENST00000265384.7_Missense_Mutation_p.A882V|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000539225.1_Missense_Mutation_p.A913V|TJP2_ENST00000453658.2_Missense_Mutation_p.A859V|TJP2_ENST00000348208.4_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													79	359					0	0	1	0	0	T	71861684	C	T	71861684	3	4	22	1	0	0	0	0	1	0	0	0	15990	768	27	1	2872	1	TJP2	9	71861684	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10597	71861684	69351747	9725	11871											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535702.1_Silent_p.G934G|TJP2_ENST00000265384.7_Silent_p.G930G|TJP2_ENST00000539225.1_Silent_p.G961G|TJP2_ENST00000453658.2_Silent_p.G907G|TJP2_ENST00000348208.4_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													65	184					0	0	1	0	0	T	71863050	C	T	71863050	2	4	22	1	0	0	0	0	0	0	0	1	15990	755	27	1		1	TJP2	9	71863050	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1366	71863050	69350381	9726	11872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535702.1_Missense_Mutation_p.R1143C|TJP2_ENST00000539225.1_Missense_Mutation_p.R1207C|TJP2_ENST00000453658.2_Missense_Mutation_p.R1006C|TJP2_ENST00000348208.4_Missense_Mutation_p.R1029C	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													92	319					0	0	1	0	0	T	71869243	C	T	71869243	3	4	22	1	0	0	0	0	1	0	0	0	15990	768	27	1	3875	1	TJP2	9	71869243	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6193	71869243	69344188	9727	11873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	348					0	0	1	0	0	A	72064647	G	A	72064647	2	1	22	1	0	0	0	0	0	0	0	1	752	1335	47	2		2	APBA1	9	72064647	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	195404	72064647	69148784	9728	11874											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	271					3.61848e-18	4.01023e-18	1	1	0	A	72067200	C	A	72067200	3	1	22	1	0	0	0	0	1	0	0	0	752	564	20	2	727	2	APBA1	9	72067200	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2553	72067200	69146231	9729	11875											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	234					0	0	1	0	0	A	72071981	G	A	72071981	2	1	22	1	0	0	0	0	0	0	0	1	752	1136	40	1		1	APBA1	9	72071981	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4781	72071981	69141450	9730	11876											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	446					0	0	1	0	0	A	72131056	G	A	72131056	2	1	22	1	0	0	0	0	0	0	0	1	752	1048	37	1		1	APBA1	9	72131056	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59075	72131056	69082375	9731	11877											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	153					0	0	1	0	0	A	72347116	T	A	72347116	3	1	22	1	0	0	0	0	1	0	0	0	12773	1725	60	5	643	5	PTAR1	9	72347116	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	216060	72347116	68866315	9732	11878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	148					0	0	1	0	0	T	72741317	C	T	72741317	3	4	22	1	0	0	0	0	1	0	0	0	9253	855	30	2	908	2	MAMDC2	9	72741317	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	394201	72741317	68472114	9733	11879											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	164					3.38236e-24	3.86174e-24	1	1	0	T	72833493	G	T	72833493	3	4	22	1	0	0	0	0	1	0	0	0	9253	971	34	2	1938	2	MAMDC2	9	72833493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92176	72833493	68379938	9734	11880											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	345					0	0	1	0	0	G	72965133	T	G	72965133	3	3	22	1	0	0	0	0	1	0	0	0	14840	1725	60	3	3083	3	SMC5	9	72965133	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	131640	72965133	68248298	9735	11881											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73151789T>C	ENST00000377110.2	-	25	4447	c.4204A>G	c.(4204-4206)Atc>Gtc	p.I1402V	TRPM3_ENST00000396292.4_Missense_Mutation_p.I1274V|TRPM3_ENST00000423814.3_Missense_Mutation_p.I1429V|TRPM3_ENST00000396280.5_Missense_Mutation_p.I1251V|TRPM3_ENST00000377106.1_Missense_Mutation_p.I1274V|TRPM3_ENST00000358082.3_Missense_Mutation_p.I1264V|TRPM3_ENST00000377105.1_Missense_Mutation_p.I1261V|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000357533.2_Missense_Mutation_p.I1406V|TRPM3_ENST00000396285.1_Missense_Mutation_p.I1261V|TRPM3_ENST00000360823.2_Missense_Mutation_p.I1264V|TRPM3_ENST00000408909.2_Missense_Mutation_p.I1261V	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1427						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													92	336					0	0	1	0	0	C	73151789	T	C	73151789	3	2	22	1	0	0	0	0	1	0	0	0	16648	1464	51	3	923	3	TRPM3	9	73151789	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	186656	73151789	68061642	9736	11882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73213583G>T	ENST00000377110.2	-	20	3007	c.2764C>A	c.(2764-2766)Ctg>Atg	p.L922M	TRPM3_ENST00000396292.4_Missense_Mutation_p.L794M|TRPM3_ENST00000423814.3_Missense_Mutation_p.L949M|TRPM3_ENST00000396280.5_Missense_Mutation_p.L771M|TRPM3_ENST00000377106.1_Missense_Mutation_p.L794M|TRPM3_ENST00000358082.3_Missense_Mutation_p.L784M|TRPM3_ENST00000377105.1_Missense_Mutation_p.L781M|TRPM3_ENST00000377111.2_Missense_Mutation_p.L922M|TRPM3_ENST00000357533.2_Missense_Mutation_p.L926M|TRPM3_ENST00000396285.1_Missense_Mutation_p.L769M|TRPM3_ENST00000360823.2_Missense_Mutation_p.L784M|TRPM3_ENST00000408909.2_Missense_Mutation_p.L781M	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	947						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													64	374					9.40535e-28	1.0908e-27	1	1	0	T	73213583	G	T	73213583	3	4	22	1	0	0	0	0	1	0	0	0	16648	933	33	2	2383	2	TRPM3	9	73213583	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61794	73213583	67999848	9737	11883											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73230953G>T	ENST00000377110.2	-	17	2604	c.2361C>A	c.(2359-2361)agC>agA	p.S787R	TRPM3_ENST00000396292.4_Missense_Mutation_p.S659R|TRPM3_ENST00000423814.3_Missense_Mutation_p.S814R|TRPM3_ENST00000396280.5_Missense_Mutation_p.S636R|TRPM3_ENST00000377106.1_Missense_Mutation_p.S659R|TRPM3_ENST00000358082.3_Missense_Mutation_p.S649R|TRPM3_ENST00000377105.1_Missense_Mutation_p.S646R|TRPM3_ENST00000377111.2_Missense_Mutation_p.S787R|TRPM3_ENST00000357533.2_Missense_Mutation_p.S791R|TRPM3_ENST00000396285.1_Missense_Mutation_p.S634R|TRPM3_ENST00000360823.2_Missense_Mutation_p.S649R|TRPM3_ENST00000408909.2_Missense_Mutation_p.S646R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	812						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													34	179					6.50621e-10	6.87419e-10	1	1	0	T	73230953	G	T	73230953	3	4	22	1	0	0	0	0	1	0	0	0	16648	962	34	2	2798	2	TRPM3	9	73230953	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17370	73230953	67982478	9738	11884											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73233803G>A	ENST00000377110.2	-	16	2545	c.2302C>T	c.(2302-2304)Cgc>Tgc	p.R768C	TRPM3_ENST00000396292.4_Missense_Mutation_p.R640C|TRPM3_ENST00000423814.3_Missense_Mutation_p.R795C|TRPM3_ENST00000396280.5_Missense_Mutation_p.R617C|TRPM3_ENST00000377106.1_Missense_Mutation_p.R640C|TRPM3_ENST00000358082.3_Missense_Mutation_p.R630C|TRPM3_ENST00000377105.1_Missense_Mutation_p.R627C|TRPM3_ENST00000377111.2_Missense_Mutation_p.R768C|TRPM3_ENST00000357533.2_Missense_Mutation_p.R772C|TRPM3_ENST00000396285.1_Missense_Mutation_p.R615C|TRPM3_ENST00000360823.2_Missense_Mutation_p.R630C|TRPM3_ENST00000408909.2_Missense_Mutation_p.R627C	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	793						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													58	251					0	0	1	0	0	A	73233803	G	A	73233803	3	1	22	1	0	0	0	0	1	0	0	0	16648	1087	38	1	2861	1	TRPM3	9	73233803	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2850	73233803	67979628	9739	11885											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396292.4_Missense_Mutation_p.D180N|TRPM3_ENST00000361823.5_Intron|TRPM3_ENST00000423814.3_Missense_Mutation_p.D335N|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000358082.3_Missense_Mutation_p.D180N|TRPM3_ENST00000377110.2_Intron|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000396283.1_Missense_Mutation_p.D180N|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000360823.2_Missense_Mutation_p.D180N|TRPM3_ENST00000408909.2_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													10	91					0	0	1	0	0	T	73426137	C	T	73426137	3	4	22	1	0	0	0	0	1	0	0	0	16648	826	29	2	4325	2	TRPM3	9	73426137	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192334	73426137	67787294	9740	11886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	268					3.30712e-30	3.87637e-30	1	1	0	T	74337391	G	T	74337391	3	4	22	1	0	0	0	0	1	0	0	0	16181	942	33	2	1984	2	TMEM2	9	74337391	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	911254	74337391	66876040	9741	11887											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376962.5_Missense_Mutation_p.S128I|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Missense_Mutation_p.S128I|ZFAND5_ENST00000343431.2_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													48	185					1.63038e-21	1.83746e-21	1	1	0	A	74971957	C	A	74971957	3	1	22	1	0	0	0	0	1	0	0	0	17688	565	20	2	266	2	ZFAND5	9	74971957	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	634566	74971957	66241474	9742	11888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74975027T>C	ENST00000237937.3	-	3	819	c.263_splice	c.e3+1	p.R88_splice	ZFAND5_ENST00000376962.5_Splice_Site_p.R88_splice|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Splice_Site_p.R88_splice|ZFAND5_ENST00000343431.2_Splice_Site_p.R88_splice	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													7	246					0	0	1	0	0	C	74975027	T	C	74975027	5	2	22	1	0	0	0	0	0	0	1	0	17688	1623	56	3	395	3	ZFAND5	9	74975027	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3070	74975027	66238404	9743	11889											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	382					0	0	1	0	0	C	75775219	T	C	75775219	3	2	22	1	0	0	0	0	1	0	0	0	708	1609	56	3	325	3	ANXA1	9	75775219	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	800192	75775219	65438212	9744	11890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77245232C>T	ENST00000376896.2	+	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	25					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													47	244					0	0	1	0	0	T	77245232	C	T	77245232	2	4	22	1	0	0	0	0	0	0	0	1	13581	755	27	1		1	RORB	9	77245232	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1470013	77245232	63968199	9745	11891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376864.4_Missense_Mutation_p.V1807A|TRPM6_ENST00000376871.3_Missense_Mutation_p.V640A|TRPM6_ENST00000376872.3_Missense_Mutation_p.V758A|TRPM6_ENST00000449912.2_Missense_Mutation_p.V1798A|TRPM6_ENST00000361255.3_Missense_Mutation_p.V1798A|TRPM6_ENST00000360774.1_Missense_Mutation_p.V1803A			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													27	694					0	0	1	0	0	G	77354718	A	G	77354718	3	3	22	1	0	0	0	0	1	0	0	0	16651	275	10	3	684	3	TRPM6	9	77354718	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	109486	77354718	63858713	9746	11892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376864.4_Missense_Mutation_p.Q1764H|TRPM6_ENST00000376871.3_Missense_Mutation_p.Q597H|TRPM6_ENST00000376872.3_Missense_Mutation_p.Q715H|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1755H|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1755H|TRPM6_ENST00000360774.1_Missense_Mutation_p.Q1760H			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													61	290					4.88506e-25	5.59823e-25	1	1	0	A	77354846	C	A	77354846	3	1	22	1	0	0	0	0	1	0	0	0	16651	796	28	2	812	2	TRPM6	9	77354846	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128	77354846	63858585	9747	11893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376864.4_Nonsense_Mutation_p.W1455*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.W1450*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.W1450*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.W1455*			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													76	426					0	0	1	0	0	T	77377222	C	T	77377222	4	4	22	1	0	0	0	0	0	1	0	0	16651	624	22	2	1759	2	TRPM6	9	77377222	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22376	77377222	63836209	9748	11894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376864.4_Missense_Mutation_p.E633K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.E628K|TRPM6_ENST00000361255.3_Missense_Mutation_p.E628K|TRPM6_ENST00000360774.1_Missense_Mutation_p.E633K			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													49	247					0	0	1	0	0	T	77416926	C	T	77416926	3	4	22	1	0	0	0	0	1	0	0	0	16651	864	30	2	4267	2	TRPM6	9	77416926	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39704	77416926	63796505	9749	11895											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376864.4_Missense_Mutation_p.F534C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Missense_Mutation_p.F534C|TRPM6_ENST00000449912.2_Missense_Mutation_p.F529C|TRPM6_ENST00000361255.3_Missense_Mutation_p.F529C|TRPM6_ENST00000360774.1_Missense_Mutation_p.F534C			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													44	426					0	0	1	0	0	C	77422987	A	C	77422987	3	2	22	1	0	0	0	0	1	0	0	0	16651	246	9	3	4571	3	TRPM6	9	77422987	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6061	77422987	63790444	9750	11896											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376864.4_Nonsense_Mutation_p.E461*|TRPM6_ENST00000376871.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000376872.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.E456*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.E456*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.E461*			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													80	337					3.56499e-28	4.14352e-28	1	1	0	A	77427277	C	A	77427277	4	1	22	1	0	0	0	0	0	1	0	0	16651	922	32	2	4799	2	TRPM6	9	77427277	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4290	77427277	63786154	9751	11897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376864.4_Missense_Mutation_p.E410D|TRPM6_ENST00000376871.3_Missense_Mutation_p.E410D|TRPM6_ENST00000376872.3_Missense_Mutation_p.E410D|TRPM6_ENST00000449912.2_Missense_Mutation_p.E405D|TRPM6_ENST00000361255.3_Missense_Mutation_p.E405D|TRPM6_ENST00000360774.1_Missense_Mutation_p.E410D			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													68	338					9.07738e-34	1.07712e-33	1	1	0	A	77431663	C	A	77431663	3	1	22	1	0	0	0	0	1	0	0	0	16651	796	28	2	4954	2	TRPM6	9	77431663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4386	77431663	63781768	9752	11898											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	369					0	0	1	0	0	C	77611376	A	C	77611376	3	2	22	1	0	0	0	0	1	0	0	0	2500	10	1	3	230	3	C9orf41	9	77611376	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	179713	77611376	63602055	9753	11899											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	248					0	0	1	0	0	G	77613623	A	G	77613623	2	3	22	1	0	0	0	0	0	0	0	1	2500	175	7	3		3	C9orf41	9	77613623	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2247	77613623	63599808	9754	11900											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	509					0	0	1	0	0	A	78506218	G	A	78506218	3	1	22	1	0	0	0	0	1	0	0	0	11650	1029	36	2	123	2	PCSK5	9	78506218	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	892595	78506218	62707213	9755	11901											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376767.3_Missense_Mutation_p.A449V|PCSK5_ENST00000376752.4_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													109	412					0	0	1	0	0	T	78771994	C	T	78771994	3	4	22	1	0	0	0	0	1	0	0	0	11650	710	25	2	1388	2	PCSK5	9	78771994	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	265776	78771994	62441437	9756	11902											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	256					0	0	1	0	0	T	78804038	C	T	78804038	2	4	22	1	0	0	0	0	0	0	0	1	11650	718	25	2		2	PCSK5	9	78804038	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32044	78804038	62409393	9757	11903											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	177					3.90053e-15	4.25374e-15	1	1	0	A	78947380	C	A	78947380	2	1	22	1	0	0	0	0	0	0	0	1	11650	812	28	2		2	PCSK5	9	78947380	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143342	78947380	62266051	9758	11904											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	188					0	0	1	0	0	A	78973444	G	A	78973444	3	1	22	1	0	0	0	0	1	0	0	0	11650	1073	37	1		1	PCSK5	9	78973444	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26064	78973444	62239987	9759	11905											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	207					0	0	1	0	0	T	79003496	C	T	79003496	3	4	22	1	0	0	0	0	1	0	0	0	13303	913	32	2	164	2	RFK	9	79003496	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30052	79003496	62209935	9760	11906											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376730.4_Silent_p.F289F|GCNT1_ENST00000536223.1_Silent_p.F289F|GCNT1_ENST00000444201.2_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													103	409					0	0	1	0	0	T	79118164	C	T	79118164	2	4	22	1	0	0	0	0	0	0	0	1	6340	883	31	1		1	GCNT1	9	79118164	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114668	79118164	62095267	9761	11907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443509.2_Silent_p.A172A|PRUNE2_ENST00000223609.6_Silent_p.A188A|PRUNE2_ENST00000376718.3_Silent_p.A2923A|PRUNE2_ENST00000466266.2_5'UTR			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													24	137					0	0	1	0	0	A	79253164	G	A	79253164	2	1	22	1	0	0	0	0	0	0	0	1	12690	1103	39	1		1	PRUNE2	9	79253164	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135000	79253164	61960267	9762	11908											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	349					0	0	1	0	0	T	79319009	C	T	79319009	3	4	22	1	0	0	0	0	1	0	0	0	12690	797	28	2	1790	2	PRUNE2	9	79319009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65845	79319009	61894422	9763	11909											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	177					0	0	1	0	0	A	79320449	G	A	79320449	2	1	22	1	0	0	0	0	0	0	0	1	12690	1136	40	1		1	PRUNE2	9	79320449	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1440	79320449	61892982	9764	11910											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	501					0	0	1	0	0	A	79320790	G	A	79320790	3	1	22	1	0	0	0	0	1	0	0	0	12690	971	34	2	2914	2	PRUNE2	9	79320790	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	341	79320790	61892641	9765	11911											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	589					4.85316e-53	6.04383e-53	1	1	0	T	79320829	G	T	79320829	3	4	22	1	0	0	0	0	1	0	0	0	12690	1000	35	2	2953	2	PRUNE2	9	79320829	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	79320829	61892602	9766	11912											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	118					0	0	1	0	0	A	79321848	G	A	79321848	3	1	22	1	0	0	0	0	1	0	0	0	12690	1319	46	2	3972	2	PRUNE2	9	79321848	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1019	79321848	61891583	9767	11913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	230					0	0	1	0	0	C	79322428	T	C	79322428	3	2	22	1	0	0	0	0	1	0	0	0	12690	1638	57	3	4552	3	PRUNE2	9	79322428	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	580	79322428	61891003	9768	11914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	308					0	0	1	0	0	A	79323618	G	A	79323618	3	1	22	1	0	0	0	0	1	0	0	0	12690	1203	42	2	5742	2	PRUNE2	9	79323618	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1190	79323618	61889813	9769	11915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	112					7.41945e-09	7.77385e-09	1	1	0	T	79325119	G	T	79325119	3	4	22	1	0	0	0	0	1	0	0	0	12690	1203	42	2	7243	2	PRUNE2	9	79325119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1501	79325119	61888312	9770	11916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79438601G>T	ENST00000428286.1	-	0	826				PRUNE2_ENST00000376713.3_Missense_Mutation_p.L235M|PRUNE2_ENST00000376718.3_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													81	349					1.4051e-37	1.68838e-37	1	1	0	T	79438601	G	T	79438601	1	4	22	1	0	0	0	0	0	0	0	0	12690	962	34	2		2	PRUNE2	9	79438601	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113482	79438601	61774830	9771	11917											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	145					0	0	1	0	0	A	79634658	G	A	79634658	3	1	22	1	0	0	0	0	1	0	0	0	6026	1203	42	2	90	2	FOXB2	9	79634658	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	196057	79634658	61578773	9772	11918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	248					0	0	1	0	0	T	79634736	C	T	79634736	3	4	22	1	0	0	0	0	1	0	0	0	6026	768	27	1	168	1	FOXB2	9	79634736	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78	79634736	61578695	9773	11919											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	81					0	0	1	0	0	T	79635075	C	T	79635075	3	4	22	1	0	0	0	0	1	0	0	0	6026	739	26	2	507	2	FOXB2	9	79635075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	339	79635075	61578356	9774	11920											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357409.5_Silent_p.Y417Y|VPS13A_ENST00000376634.4_Silent_p.Y417Y|VPS13A_ENST00000376636.3_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													42	228					0	0	1	0	0	T	79841408	C	T	79841408	2	4	22	1	0	0	0	0	0	0	0	1	17249	489	17	2		2	VPS13A	9	79841408	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206333	79841408	61372023	9775	11921											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357409.5_Missense_Mutation_p.L748V|VPS13A_ENST00000376634.4_Missense_Mutation_p.L748V|VPS13A_ENST00000376636.3_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													139	569					0	0	1	0	0	G	79867222	T	G	79867222	3	3	22	1	0	0	0	0	1	0	0	0	17249	1838	64	3	2328	3	VPS13A	9	79867222	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25814	79867222	61346209	9776	11922											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357409.5_Missense_Mutation_p.F1123L|VPS13A_ENST00000376634.4_Missense_Mutation_p.F1123L|VPS13A_ENST00000376636.3_Missense_Mutation_p.F1084L|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													79	275					0	0	1	0	0	C	79908284	T	C	79908284	3	2	22	1	0	0	0	0	1	0	0	0	17249	1841	64	3	3493	3	VPS13A	9	79908284	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41062	79908284	61305147	9777	11923											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357409.5_Nonsense_Mutation_p.Q1536*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.Q1536*|VPS13A_ENST00000376636.3_Nonsense_Mutation_p.Q1497*|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													7	298					0	0	1	0	0	T	79930362	C	T	79930362	4	4	22	1	0	0	0	0	0	1	0	0	17249	711	25	2	4756	2	VPS13A	9	79930362	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22078	79930362	61283069	9778	11924											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357409.5_Silent_p.L1746L|VPS13A_ENST00000376634.4_Silent_p.L1746L|VPS13A_ENST00000376636.3_Silent_p.L1707L|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													35	410					0	0	1	0	0	T	79933430	C	T	79933430	2	4	22	1	0	0	0	0	0	0	0	1	17249	912	32	2		2	VPS13A	9	79933430	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3068	79933430	61280001	9779	11925											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79934591T>C	ENST00000360280.3	+	42	5675		c.e42+2		VPS13A_ENST00000357409.5_Splice_Site|VPS13A_ENST00000376634.4_Splice_Site|VPS13A_ENST00000376636.3_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													21	89					0	0	1	0	0	C	79934591	T	C	79934591	5	2	22	1	0	0	0	0	0	0	1	0	17249	1652	57	3	5583	3	VPS13A	9	79934591	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1161	79934591	61278840	9780	11926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357409.5_Missense_Mutation_p.D2480Y|VPS13A_ENST00000376634.4_Missense_Mutation_p.D2480Y|VPS13A_ENST00000376636.3_Missense_Mutation_p.D2441Y	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													30	226					1.80694e-10	1.9163e-10	1	1	0	T	79968343	G	T	79968343	3	4	22	1	0	0	0	0	1	0	0	0	17249	942	33	2	7652	2	VPS13A	9	79968343	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33752	79968343	61245088	9781	11927											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357409.5_Missense_Mutation_p.V2910F|VPS13A_ENST00000376634.4_Missense_Mutation_p.V2910F|VPS13A_ENST00000376636.3_Missense_Mutation_p.V2871F	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													61	241					2.165e-29	2.52906e-29	1	1	0	T	79985233	G	T	79985233	3	4	22	1	0	0	0	0	1	0	0	0	17249	1029	36	2	8982	2	VPS13A	9	79985233	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16890	79985233	61228198	9782	11928											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	430					0	0	1	0	0	T	80046298	C	T	80046298	3	4	22	1	0	0	0	0	1	0	0	0	6544	536	19	1	551	1	GNA14	9	80046298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61065	80046298	61167133	9783	11929											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								85	166					0	0	1	0	0	A	80412494	G	A	80412494	4	1	22	1	0	0	0	0	0	1	0	0	6551	1066	37	1	548	1	GNAQ	9	80412494	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	366196	80412494	60800937	9784	11930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415759.2_Silent_p.K363K|CEP78_ENST00000376598.2_Silent_p.K362K|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													12	64					0	0	1	0	0	G	80866840	A	G	80866840	2	3	22	1	0	0	0	0	0	0	0	1	3284	40	2	3		3	CEP78	9	80866840	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	454346	80866840	60346591	9785	11931											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415759.2_Missense_Mutation_p.E397K|CEP78_ENST00000376598.2_Missense_Mutation_p.E396K|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													15	64					0	0	1	0	0	A	80866940	G	A	80866940	3	1	22	1	0	0	0	0	1	0	0	0	3284	943	33	2	1223	2	CEP78	9	80866940	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100	80866940	60346491	9786	11932											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376537.4_Missense_Mutation_p.D194G|TLE4_ENST00000376544.3_Missense_Mutation_p.D194G|TLE4_ENST00000376552.2_Missense_Mutation_p.D194G|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000455913.1_3'UTR			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													61	286					0	0	1	0	0	G	82267698	A	G	82267698	3	3	22	1	0	0	0	0	1	0	0	0	16001	333	12	3	607	3	TLE4	9	82267698	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1400758	82267698	58945733	9787	11933											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376537.4_Missense_Mutation_p.V207L|TLE4_ENST00000376520.4_Splice_Site|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													199	843					9.20999e-90	1.18197e-89	1	1	0	T	82319707	G	T	82319707	3	4	22	1	0	0	0	0	1	0	0	0	16001	1029	36	2	653	2	TLE4	9	82319707	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52009	82319707	58893724	9788	11934											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376537.4_Missense_Mutation_p.A595V|TLE4_ENST00000376544.3_Missense_Mutation_p.A494V|TLE4_ENST00000376552.2_Missense_Mutation_p.A563V|TLE4_ENST00000376534.4_Missense_Mutation_p.A200V			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													53	220					0	0	1	0	0	T	82335058	C	T	82335058	3	4	22	1	0	0	0	0	1	0	0	0	16001	768	27	1	1750	1	TLE4	9	82335058	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15351	82335058	58878373	9789	11935											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376537.4_Silent_p.I659I|TLE4_ENST00000376544.3_Silent_p.I558I|TLE4_ENST00000376552.2_Silent_p.I627I|TLE4_ENST00000376534.4_Silent_p.I264I			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													9	335					0	0	1	0	0	C	82336698	T	C	82336698	2	2	22	1	0	0	0	0	0	0	0	1	16001	1829	64	3		3	TLE4	9	82336698	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1640	82336698	58876733	9790	11936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	419					1.42366e-38	1.7169e-38	1	1	0	T	84205779	G	T	84205779	3	4	22	1	0	0	0	0	1	0	0	0	15998	933	33	2	562	2	TLE1	9	84205779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1869081	84205779	57007652	9791	11937											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376472.1_5'UTR|TLE1_ENST00000376484.1_5'UTR|TLE1_ENST00000464999.1_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													92	467					0	0	1	0	0	A	84228383	G	A	84228383	2	1	22	1	0	0	0	0	0	0	0	1	15998	1078	38	1		1	TLE1	9	84228383	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22604	84228383	56985048	9792	11938											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	433					0	0	1	0	0	T	85637250	C	T	85637250	5	4	22	1	0	0	0	0	0	0	1	0	13120	550	19	1	1612	1	RASEF	9	85637250	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1408867	85637250	55576181	9793	11939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376434.1_Missense_Mutation_p.S358L|FRMD3_ENST00000465485.1_5'UTR	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													75	329					0	0	1	0	0	A	85862972	G	A	85862972	3	1	22	1	0	0	0	0	1	0	0	0	6085	1294	45	2	142	2	FRMD3	9	85862972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	225722	85862972	55350459	9794	11940											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376434.1_Missense_Mutation_p.P329Q|FRMD3_ENST00000465485.1_5'UTR	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													72	321					2.03652e-46	2.50201e-46	1	1	0	T	85863059	G	T	85863059	3	4	22	1	0	0	0	0	1	0	0	0	6085	1348	47	2	229	2	FRMD3	9	85863059	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87	85863059	55350372	9795	11941											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	272					1.53716e-24	1.75837e-24	1	1	0	T	86278795	G	T	86278795	3	4	22	1	0	0	0	0	1	0	0	0	16957	1174	41	2	165	2	UBQLN1	9	86278795	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	415736	86278795	54934636	9796	11942											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													342	1617					4.77687e-79	6.1043e-79	1	1	0	A	86293447	C	A	86293447	3	1	22	1	0	0	0	0	1	0	0	0	16957	797	28	2	1018	2	UBQLN1	9	86293447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14652	86293447	54919984	9797	11943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													317	1659					6.28038e-61	7.90407e-61	1	1	0	A	86293476	C	A	86293476	3	1	22	1	0	0	0	0	1	0	0	0	16957	912	32	2	1047	2	UBQLN1	9	86293476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29	86293476	54919955	9798	11944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334204.2_Missense_Mutation_p.V429A|KIF27_ENST00000413982.1_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													62	319					0	0	1	0	0	G	86518147	A	G	86518147	3	3	22	1	0	0	0	0	1	0	0	0	8338	275	10	3	2979	3	KIF27	9	86518147	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	224671	86518147	54695284	9799	11945											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334204.2_Missense_Mutation_p.A280T|KIF27_ENST00000413982.1_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													75	351					0	0	1	0	0	T	86518595	C	T	86518595	3	4	22	1	0	0	0	0	1	0	0	0	8338	768	27	1	3427	1	KIF27	9	86518595	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	448	86518595	54694836	9800	11946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334204.2_Missense_Mutation_p.R206K|KIF27_ENST00000413982.1_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													135	900					0	0	1	0	0	T	86518816	C	T	86518816	3	4	22	1	0	0	0	0	1	0	0	0	8338	913	32	2	3648	2	KIF27	9	86518816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221	86518816	54694615	9801	11947											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334204.2_Missense_Mutation_p.S126N|KIF27_ENST00000413982.1_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													22	767					0	0	1	0	0	T	86523489	C	T	86523489	3	4	22	1	0	0	0	0	1	0	0	0	8338	797	28	2	3892	2	KIF27	9	86523489	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4673	86523489	54689942	9802	11948											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	248					0	0	1	0	0	T	86559841	C	T	86559841	3	4	22	1	0	0	0	0	1	0	0	0	2507	864	30	2	372	2	C9orf64	9	86559841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36352	86559841	54653590	9803	11949											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360384.5_Missense_Mutation_p.E425D|HNRNPK_ENST00000376264.2_Missense_Mutation_p.E425D|HNRNPK_ENST00000351839.3_Missense_Mutation_p.E425D|HNRNPK_ENST00000376281.4_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													50	273					0	0	1	0	0	G	86585163	C	G	86585163	3	3	22	1	0	0	0	0	1	0	0	0	7310	796	28	5	162	5	HNRNPK	9	86585163	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25322	86585163	54628268	9804	11950											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360384.5_Missense_Mutation_p.P315H|HNRNPK_ENST00000376264.2_Missense_Mutation_p.P315H|HNRNPK_ENST00000351839.3_Missense_Mutation_p.P315H|HNRNPK_ENST00000376281.4_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													93	413					4.21773e-46	5.1785e-46	1	1	0	T	86586806	G	T	86586806	3	4	22	1	0	0	0	0	1	0	0	0	7310	1000	35	2	513	2	HNRNPK	9	86586806	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1643	86586806	54626625	9805	11951											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000495823.1_5'UTR|SLC28A3_ENST00000537648.1_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													102	454					1.54263e-40	1.87112e-40	1	1	0	A	86955505	C	A	86955505	3	1	22	1	0	0	0	0	1	0	0	0	14588	797	28	2	2103	2	SLC28A3	9	86955505	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	368699	86955505	54257926	9806	11952											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359847.3_Missense_Mutation_p.A54T|NTRK2_ENST00000323115.4_Missense_Mutation_p.A54T|NTRK2_ENST00000376208.1_Missense_Mutation_p.A54T|NTRK2_ENST00000277120.3_Missense_Mutation_p.A54T|NTRK2_ENST00000376214.1_Missense_Mutation_p.A54T|NTRK2_ENST00000376213.1_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)			20	336					0	0	1	0	0	A	87285823	G	A	87285823	3	1	22	1	0	0	0	0	1	0	0	0	10755	1203	42	2	162	2	NTRK2	9	87285823	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	330318	87285823	53927608	9807	11953											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359847.3_Missense_Mutation_p.P197S|NTRK2_ENST00000323115.4_Missense_Mutation_p.P197S|NTRK2_ENST00000376208.1_Missense_Mutation_p.P197S|NTRK2_ENST00000395866.2_Missense_Mutation_p.P41S|NTRK2_ENST00000277120.3_Missense_Mutation_p.P197S|NTRK2_ENST00000376214.1_Missense_Mutation_p.P197S|NTRK2_ENST00000376213.1_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)			39	349					0	0	1	0	0	T	87338493	C	T	87338493	3	4	22	1	0	0	0	0	1	0	0	0	10755	739	26	2	611	2	NTRK2	9	87338493	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52670	87338493	53874938	9808	11954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359847.3_Silent_p.S278S|NTRK2_ENST00000323115.4_Silent_p.S278S|NTRK2_ENST00000376208.1_Silent_p.S278S|NTRK2_ENST00000395866.2_Silent_p.S122S|NTRK2_ENST00000277120.3_Silent_p.S278S|NTRK2_ENST00000376214.1_Silent_p.S278S|NTRK2_ENST00000376213.1_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)			159	785					0	0	1	0	0	G	87339252	T	G	87339252	2	3	22	1	0	0	0	0	0	0	0	1	10755	1567	55	3		3	NTRK2	9	87339252	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	759	87339252	53874179	9809	11955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000323115.4_Silent_p.Y516Y|NTRK2_ENST00000376208.1_Silent_p.Y516Y|NTRK2_ENST00000277120.3_Silent_p.Y532Y|NTRK2_ENST00000376214.1_Silent_p.Y532Y|NTRK2_ENST00000376213.1_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)			119	664					0	0	1	0	0	T	87482309	C	T	87482309	2	4	22	1	0	0	0	0	0	0	0	1	10755	576	20	2		2	NTRK2	9	87482309	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143057	87482309	53731122	9810	11956											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.M205L|AGTPBP1_ENST00000337006.4_Missense_Mutation_p.M147L|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.M147L|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													51	230					0	0	1	0	0	G	88284449	T	G	88284449	3	3	22	1	0	0	0	0	1	0	0	0	397	1435	50	3	3023	3	AGTPBP1	9	88284449	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	802140	88284449	52928982	9811	11957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376081.4_Nonsense_Mutation_p.G98*|AGTPBP1_ENST00000337006.4_Nonsense_Mutation_p.G40*|AGTPBP1_ENST00000376080.1_Nonsense_Mutation_p.G40*|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													24	330					2.52088e-20	2.82337e-20	1	1	0	A	88292495	C	A	88292495	4	1	22	1	0	0	0	0	0	1	0	0	397	603	21	2	3352	2	AGTPBP1	9	88292495	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8046	88292495	52920936	9812	11958											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375961.2_Missense_Mutation_p.A804V|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.A804V|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.A681V			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													130	577					0	0	1	0	0	A	88938254	G	A	88938254	3	1	22	1	0	0	0	0	1	0	0	0	17650	1203	42	2	2136	2	ZCCHC6	9	88938254	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	645759	88938254	52275177	9813	11959											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375963.3_Missense_Mutation_p.F348L|ZCCHC6_ENST00000375948.1_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.F348L|ZCCHC6_ENST00000277141.6_5'UTR			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													44	299					0	0	1	0	0	C	88958032	G	C	88958032	3	2	22	1	0	0	0	0	1	0	0	0	17650	1281	45	5	3531	5	ZCCHC6	9	88958032	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19778	88958032	52255399	9814	11960											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491893.1_Missense_Mutation_p.R54W|DAPK1_ENST00000472284.1_Missense_Mutation_p.R54W|DAPK1_ENST00000358077.5_Missense_Mutation_p.R54W|DAPK1_ENST00000408954.3_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				52	249					0	0	1	0	0	T	90219966	C	T	90219966	3	4	22	1	0	0	0	0	1	0	0	0	4259	759	27	1	166	1	DAPK1	9	90219966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1261934	90219966	50993465	9815	11961											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491893.1_Missense_Mutation_p.R310C|DAPK1_ENST00000472284.1_Missense_Mutation_p.R310C|DAPK1_ENST00000358077.5_Missense_Mutation_p.R310C|DAPK1_ENST00000408954.3_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				20	116					0	0	1	0	0	T	90258300	C	T	90258300	3	4	22	1	0	0	0	0	1	0	0	0	4259	884	31	1	966	1	DAPK1	9	90258300	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38334	90258300	50955131	9816	11962											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	178					0	0	1	0	0	A	91083296	G	A	91083296	3	1	22	1	0	0	0	0	1	0	0	0	15108	1058	37	1	379	1	SPIN1	9	91083296	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	824996	91083296	50130135	9817	11963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_024077.3	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													53	350					0	0	1	0	0	T	91964707	C	T	91964707	2	4	22	1	0	0	0	0	0	0	0	1	14060	535	19	1		1	SECISBP2	9	91964707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	881411	91964707	49248724	9818	11964											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_024077.3	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													189	764					0	0	1	0	0	T	91972418	C	T	91972418	3	4	22	1	0	0	0	0	1	0	0	0	14060	768	27	1	2264	1	SECISBP2	9	91972418	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7711	91972418	49241013	9819	11965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422704.2_Silent_p.G494G|SEMA4D_ENST00000343780.4_Silent_p.G494G|SEMA4D_ENST00000455551.2_Silent_p.G494G|SEMA4D_ENST00000339861.4_Silent_p.G494G|SEMA4D_ENST00000438547.2_Silent_p.G494G|SEMA4D_ENST00000356444.2_Silent_p.G494G|SEMA4D_ENST00000420987.1_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													11	61					0	0	1	0	0	A	91996226	G	A	91996226	2	1	22	1	0	0	0	0	0	0	0	1	14088	1074	38	1		1	SEMA4D	9	91996226	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23808	91996226	49217205	9820	11966											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	365					0	0	1	0	0	A	93375522	G	A	93375522	2	1	22	1	0	0	0	0	0	0	0	1	4559	1079	38	1		1	DIRAS2	9	93375522	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1379296	93375522	47837909	9821	11967											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	653					0	0	1	0	0	T	93375869	C	T	93375869	3	4	22	1	0	0	0	0	1	0	0	0	4559	768	27	1	362	1	DIRAS2	9	93375869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	347	93375869	47837562	9822	11968											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375751.4_Silent_p.A75A|SYK_ENST00000375747.1_Silent_p.A75A|SYK_ENST00000375746.1_Silent_p.A75A|SYK_ENST00000476708.1_3'UTR	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"								7	256					0.0477658	0.0478703	1	1	0	A	93606405	C	A	93606405	2	1	22	1	0	0	0	0	0	0	0	1	15495	581	21	2		2	SYK	9	93606405	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	230536	93606405	47607026	9823	11969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375751.4_Missense_Mutation_p.A86T|SYK_ENST00000375747.1_Missense_Mutation_p.A86T|SYK_ENST00000375746.1_Missense_Mutation_p.A86T|SYK_ENST00000476708.1_3'UTR	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"								42	234					0	0	1	0	0	A	93606436	G	A	93606436	3	1	22	1	0	0	0	0	1	0	0	0	15495	1087	38	1	258	1	SYK	9	93606436	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31	93606436	47606995	9824	11970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375751.4_Missense_Mutation_p.L538S|SYK_ENST00000375747.1_Missense_Mutation_p.L538S|SYK_ENST00000375746.1_Missense_Mutation_p.L561S	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"								150	683					0	0	1	0	0	C	93650131	T	C	93650131	3	2	22	1	0	0	0	0	1	0	0	0	15495	1821	63	3	1724	3	SYK	9	93650131	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43695	93650131	47563300	9825	11971											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	232					0	0	1	0	0	A	93978386	G	A	93978386	2	1	22	1	0	0	0	0	0	0	0	1	1217	1045	37	1		1	AUH	9	93978386	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	328255	93978386	47235045	9826	11972											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	299					4.26978e-12	4.57227e-12	1	1	0	T	93979605	G	T	93979605	3	4	22	1	0	0	0	0	1	0	0	0	1217	1000	35	2	183	2	AUH	9	93979605	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1219	93979605	47233826	9827	11973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	452					0	0	1	0	0	A	94172259	G	A	94172259	3	1	22	1	0	0	0	0	1	0	0	0	10420	942	33	2	634	2	NFIL3	9	94172259	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192654	94172259	47041172	9828	11974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	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													87	441					0	0	1	0	0	T	94486406	C	T	94486406	2	4	22	1	0	0	0	0	0	0	0	1	13579	796	28	2		2	ROR2	9	94486406	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	314147	94486406	46727025	9829	11975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375715.1_Missense_Mutation_p.A619V|ROR2_ENST00000550066.1_5'UTR	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													67	375					0	0	1	0	0	A	94486500	G	A	94486500	3	1	22	1	0	0	0	0	1	0	0	0	13579	1087	38	1	559	1	ROR2	9	94486500	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94	94486500	46726931	9830	11976	75	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375715.1_Missense_Mutation_p.S618L|ROR2_ENST00000550066.1_5'UTR	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													66	373					0	0	1	0	0	A	94486503	G	A	94486503	3	1	22	1	0	0	0	0	1	0	0	0	13579	1059	37	1	562	1	ROR2	9	94486503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3	94486503	46726928	9831	11977	75	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	467					0	0	1	0	0	T	94812267	C	T	94812267	3	4	22	1	0	0	0	0	1	0	0	0	15179	855	30	2	586	2	SPTLC1	9	94812267	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325764	94812267	46401164	9832	11978											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Missense_Mutation_p.A121T	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													62	283					0	0	1	0	0	T	94842364	C	T	94842364	3	4	22	1	0	0	0	0	1	0	0	0	15179	797	28	2	1113	2	SPTLC1	9	94842364	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30097	94842364	46371067	9833	11979											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443024.2_Missense_Mutation_p.L762M|IARS_ENST00000447699.2_Missense_Mutation_p.L652M|IARS_ENST00000375629.3_De_novo_Start_InFrame	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													7	313					5.18039e-06	5.32547e-06	1	1	0	T	95014113	G	T	95014113	3	4	22	1	0	0	0	0	1	0	0	0	7517	933	33	2	1556	2	IARS	9	95014113	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	171749	95014113	46199318	9834	11980											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443024.2_Missense_Mutation_p.R694W|IARS_ENST00000447699.2_Missense_Mutation_p.R584W|IARS_ENST00000375629.3_5'UTR	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													48	258					0	0	1	0	0	A	95019019	G	A	95019019	3	1	22	1	0	0	0	0	1	0	0	0	7517	1115	39	1	1768	1	IARS	9	95019019	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4906	95019019	46194412	9835	11981											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443024.2_Missense_Mutation_p.Y409C|IARS_ENST00000447699.2_Missense_Mutation_p.Y299C|IARS_ENST00000375629.3_5'UTR	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													39	194					0	0	1	0	0	C	95032245	T	C	95032245	3	2	22	1	0	0	0	0	1	0	0	0	7517	1638	57	3	2650	3	IARS	9	95032245	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13226	95032245	46181186	9836	11982											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95043153A>C	ENST00000375629.3	-	0	699				IARS_ENST00000443024.2_Missense_Mutation_p.F207C|IARS_ENST00000375643.3_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													7	176					0	0	1	0	0	C	95043153	A	C	95043153	1	2	22	1	0	0	0	0	0	0	0	0	7517	14	1	3		3	IARS	9	95043153	Translation_Start_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10908	95043153	46170278	9837	11983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442668.2_Missense_Mutation_p.K940T|NOL8_ENST00000535387.1_Missense_Mutation_p.K902T|NOL8_ENST00000358855.4_Missense_Mutation_p.K872T|NOL8_ENST00000542053.1_Missense_Mutation_p.K872T			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													116	455					0	0	1	0	0	G	95069174	T	G	95069174	3	3	22	1	0	0	0	0	1	0	0	0	10574	1841	64	3	712	3	NOL8	9	95069174	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26021	95069174	46144257	9838	11984											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95073540T>C	ENST00000545558.1	-	8	2852	c.2358_splice	c.e8-1	p.D787_splice	NOL8_ENST00000442668.2_Splice_Site_p.D787_splice|NOL8_ENST00000535387.1_Intron|NOL8_ENST00000358855.4_Splice_Site_p.D719_splice|NOL8_ENST00000542053.1_Splice_Site_p.D719_splice			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													27	106					0	0	1	0	0	C	95073540	T	C	95073540	5	2	22	1	0	0	0	0	0	0	1	0	10574	1449	50	3	1183	3	NOL8	9	95073540	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4366	95073540	46139891	9839	11985											
NOL8	55035	broad.mit.edu	37	chr9	95077969	95077969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtaagttttcctctttcGcaatcatcattctcaattca	3	11	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95077969G>A	ENST00000545558.1	-	7	1430	c.938C>T	c.(937-939)gCg>gTg	p.A313V	NOL8_ENST00000442668.2_Missense_Mutation_p.A313V|NOL8_ENST00000535387.1_Missense_Mutation_p.A313V|NOL8_ENST00000358855.4_Missense_Mutation_p.A245V|NOL8_ENST00000542053.1_Missense_Mutation_p.A245V			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						TTCCTCTTTCGCAATCATCAT	0.368													13	85					0	0	1	0	0	A	95077969	G	A	95077969	3	1	22	1	0	0	0	0	1	0	0	0	10574	1087	38	1	2609	1	NOL8	9	95077969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4429	95077969	46135462	9840	11986											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442668.2_Missense_Mutation_p.L288S|NOL8_ENST00000535387.1_Missense_Mutation_p.L288S|NOL8_ENST00000358855.4_Missense_Mutation_p.L220S|NOL8_ENST00000542053.1_Missense_Mutation_p.L220S			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													16	118					0	0	1	0	0	G	95078044	A	G	95078044	3	3	22	1	0	0	0	0	1	0	0	0	10574	131	5	3	2684	3	NOL8	9	95078044	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75	95078044	46135387	9841	11987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	243					3.4779e-39	4.20191e-39	1	1	0	A	95277420	C	A	95277420	4	1	22	1	0	0	0	0	0	1	0	0	4924	922	32	2	1580	2	ECM2	9	95277420	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199376	95277420	45936011	9842	11988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	147					0	0	1	0	0	G	95284865	A	G	95284865	3	3	22	1	0	0	0	0	1	0	0	0	4924	159	6	3	1851	3	ECM2	9	95284865	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7445	95284865	45928566	9843	11989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	146					1.49673e-21	1.68722e-21	1	1	0	A	95481113	C	A	95481113	3	1	22	1	0	0	0	0	1	0	0	0	1428	797	28	2	775	2	BICD2	9	95481113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	196248	95481113	45732318	9844	11990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395506.3_Missense_Mutation_p.L653I|ZNF484_ENST00000375495.3_Missense_Mutation_p.L651I|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.L615I	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													38	389					9.62906e-15	1.04819e-14	1	1	0	T	95609118	G	T	95609118	3	4	22	1	0	0	0	0	1	0	0	0	17994	942	33	2	611	2	ZNF484	9	95609118	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128005	95609118	45604313	9845	11991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395506.3_Missense_Mutation_p.R320C|ZNF484_ENST00000375495.3_Missense_Mutation_p.R318C|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.R282C	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													67	330					0	0	1	0	0	A	95610117	G	A	95610117	3	1	22	1	0	0	0	0	1	0	0	0	17994	1116	39	1	1610	1	ZNF484	9	95610117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	999	95610117	45603314	9846	11992											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	480					0	0	1	0	0	A	95888858	G	A	95888858	2	1	22	1	0	0	0	0	0	0	0	1	10465	1078	38	1		1	NINJ1	9	95888858	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278741	95888858	45324573	9847	11993											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395477.2_Missense_Mutation_p.T208M|WNK2_ENST00000395475.2_Missense_Mutation_p.T194M|WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000356055.3_5'UTR			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													23	118					0	0	1	0	0	T	95947834	C	T	95947834	3	4	22	1	0	0	0	0	1	0	0	0	17438	536	19	1	625	1	WNK2	9	95947834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58976	95947834	45265597	9848	11994											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395477.2_Intron|WNK2_ENST00000395475.2_Intron|WNK2_ENST00000349097.3_Missense_Mutation_p.R970H|WNK2_ENST00000427277.2_Intron|WNK2_ENST00000356055.3_Intron			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													5	31					0	0	1	0	0	A	96031161	G	A	96031161	3	1	22	1	0	0	0	0	1	0	0	0	17438	1102	38	1		1	WNK2	9	96031161	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83327	96031161	45182270	9849	11995											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395477.2_Silent_p.S1533S|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Silent_p.S1182S|WNK2_ENST00000427277.2_Silent_p.S1145S|WNK2_ENST00000356055.3_5'UTR			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													10	96					0	0	1	0	0	A	96051635	G	A	96051635	2	1	22	1	0	0	0	0	0	0	0	1	17438	1103	39	1		1	WNK2	9	96051635	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20474	96051635	45161796	9850	11996											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395477.2_Missense_Mutation_p.A1998T|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.A1647T|WNK2_ENST00000427277.2_Missense_Mutation_p.A1610T|WNK2_ENST00000356055.3_Silent_p.L358L			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													20	155					0	0	1	0	0	A	96061420	G	A	96061420	3	1	22	1	0	0	0	0	1	0	0	0	17438	1319	46	2	6086	2	WNK2	9	96061420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9785	96061420	45152011	9851	11997											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340893.4_Missense_Mutation_p.R175K|FAM120A_ENST00000333936.5_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													66	284					0	0	1	0	0	A	96233472	G	A	96233472	3	1	22	1	0	0	0	0	1	0	0	0	5446	942	33	2	530	2	FAM120A	9	96233472	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	172052	96233472	44979959	9852	11998											
FAM120A	23196	broad.mit.edu	37	chr9	96318839	96318839	+	Frame_Shift_Del	DEL	A	A	-													actcctcaaagccagccgggAaaagaccccactcattgacc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96318839delA	ENST00000277165.6	+	13	2644	c.2450delA	c.(2449-2451)gafs	p.E817fs	FAM120A_ENST00000340893.4_Frame_Shift_Del_p.E817fs|FAM120A_ENST00000333936.5_Frame_Shift_Del_p.E845fs	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	817						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						GCCAGCCGGGAAAAGACCCCA	0.502													147	899	---	---	---	---						-	96318839	A	-	96318839	7	5	22	1	0	1	0	1	0	0	0	0	5446	246	9	0	2500	0	FAM120A	9	96318839	Frame_Shift_Del	DEL	A	TCGA-IB-7651-01A-11D-2154-08	85367	96318839	44894592	9853	11999											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	412					0	0	1	0	0	A	96392276	G	A	96392276	2	1	22	1	0	0	0	0	0	0	0	1	11878	991	35	2		2	PHF2	9	96392276	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73437	96392276	44821155	9854	12000											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	247					0	0	1	0	0	G	96425295	A	G	96425295	3	3	22	1	0	0	0	0	1	0	0	0	11878	72	3	3	1855	3	PHF2	9	96425295	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33019	96425295	44788136	9855	12001											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	224					0	0	1	0	0	T	96435918	C	T	96435918	2	4	22	1	0	0	0	0	0	0	0	1	11878	581	21	2		2	PHF2	9	96435918	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10623	96435918	44777513	9856	12002											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	340					0	0	1	0	0	T	96846893	C	T	96846893	2	4	22	1	0	0	0	0	0	0	0	1	12823	668	24	2		2	PTPDC1	9	96846893	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	410975	96846893	44366538	9857	12003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	370					0	0	1	0	0	T	96846909	C	T	96846909	3	4	22	1	0	0	0	0	1	0	0	0	12823	759	27	1	185	1	PTPDC1	9	96846909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	96846909	44366522	9858	12004											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	450					5.26018e-13	5.6673e-13	1	1	0	A	96859904	C	A	96859904	3	1	22	1	0	0	0	0	1	0	0	0	12823	564	20	2	1158	2	PTPDC1	9	96859904	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12995	96859904	44353527	9859	12005											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	232					0	0	1	0	0	A	96860214	G	A	96860214	3	1	22	1	0	0	0	0	1	0	0	0	12823	1059	37	1	1468	1	PTPDC1	9	96860214	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	310	96860214	44353217	9860	12006											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	486					0	0	1	0	0	G	96860569	A	G	96860569	3	3	22	1	0	0	0	0	1	0	0	0	12823	188	7	3	1823	3	PTPDC1	9	96860569	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	355	96860569	44352862	9861	12007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	381					0	0	1	0	0	T	97220650	C	T	97220650	3	4	22	1	0	0	0	0	1	0	0	0	7139	726	26	2	1215	2	HIATL1	9	97220650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	360081	97220650	43992781	9862	12008											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	333					3.05759e-45	3.74787e-45	1	1	0	A	97321313	C	A	97321313	3	1	22	1	0	0	0	0	1	0	0	0	5739	680	24	2	96	2	FBP2	9	97321313	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100663	97321313	43892118	9863	12009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395357.2_Missense_Mutation_p.P25T|C9orf3_ENST00000277198.2_Missense_Mutation_p.P405T|C9orf3_ENST00000297979.5_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													62	378					3.21867e-24	3.67736e-24	1	1	0	A	97563133	C	A	97563133	3	1	22	1	0	0	0	0	1	0	0	0	2495	623	22	2	1227	2	C9orf3	9	97563133	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	241820	97563133	43650298	9864	12010											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375305.1_Missense_Mutation_p.P346L|FANCC_ENST00000464653.1_5'UTR	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				19	124					0	0	1	0	0	A	97879632	G	A	97879632	3	1	22	1	0	0	0	0	1	0	0	0	5697	1348	47	2	659	2	FANCC	9	97879632	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	316499	97879632	43333799	9865	12011											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429896.2_Missense_Mutation_p.A1229T|PTCH1_ENST00000375274.2_Missense_Mutation_p.A1379T|PTCH1_ENST00000418258.1_Missense_Mutation_p.A1229T|PTCH1_ENST00000331920.6_Missense_Mutation_p.A1380T|PTCH1_ENST00000421141.1_Missense_Mutation_p.A1229T|PTCH1_ENST00000437951.1_Missense_Mutation_p.A1314T			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													17	481					0	0	1	0	0	T	98209400	C	T	98209400	3	4	22	1	0	0	0	0	1	0	0	0	12779	768	27	1	209	1	PTCH1	9	98209400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	329768	98209400	43004031	9866	12012											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429896.2_Missense_Mutation_p.S1084N|PTCH1_ENST00000375274.2_Missense_Mutation_p.S1234N|PTCH1_ENST00000418258.1_Missense_Mutation_p.S1084N|PTCH1_ENST00000331920.6_Missense_Mutation_p.S1235N|PTCH1_ENST00000421141.1_Missense_Mutation_p.S1084N|PTCH1_ENST00000437951.1_Missense_Mutation_p.S1169N			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													4	106					0	0	1	0	0	T	98211451	C	T	98211451	3	4	22	1	0	0	0	0	1	0	0	0	12779	797	28	2	647	2	PTCH1	9	98211451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2051	98211451	43001980	9867	12013											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429896.2_Missense_Mutation_p.P1031H|PTCH1_ENST00000375274.2_Missense_Mutation_p.P1181H|PTCH1_ENST00000418258.1_Missense_Mutation_p.P1031H|PTCH1_ENST00000331920.6_Missense_Mutation_p.P1182H|PTCH1_ENST00000421141.1_Missense_Mutation_p.P1031H|PTCH1_ENST00000437951.1_Missense_Mutation_p.P1116H			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													36	141					3.76114e-14	4.07806e-14	1	1	0	T	98212127	G	T	98212127	3	4	22	1	0	0	0	0	1	0	0	0	12779	1000	35	2	810	2	PTCH1	9	98212127	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	676	98212127	43001304	9868	12014											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429896.2_Missense_Mutation_p.A356D|PTCH1_ENST00000375274.2_Missense_Mutation_p.A506D|PTCH1_ENST00000418258.1_Missense_Mutation_p.A356D|PTCH1_ENST00000331920.6_Missense_Mutation_p.A507D|PTCH1_ENST00000421141.1_Missense_Mutation_p.A356D|PTCH1_ENST00000437951.1_Missense_Mutation_p.A441D			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													20	122					1.2644e-06	1.30616e-06	1	1	0	T	98239123	G	T	98239123	3	4	22	1	0	0	0	0	1	0	0	0	12779	971	34	2	2875	2	PTCH1	9	98239123	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26996	98239123	42974308	9869	12015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	125					0	0	1	0	0	A	98997811	G	A	98997811	2	1	22	1	0	0	0	0	0	0	0	1	7426	1078	38	1		1	HSD17B3	9	98997811	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	758688	98997811	42215620	9870	12016											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	596					1.56452e-12	1.68123e-12	1	1	0	T	99220689	G	T	99220689	3	4	22	1	0	0	0	0	1	0	0	0	6980	962	34	2	384	2	HABP4	9	99220689	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222878	99220689	41992742	9871	12017											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99266070G>A	ENST00000375241.1	-	14	1913	c.1460_splice	c.e14-1	p.L488_splice	CDC14B_ENST00000375240.3_Splice_Site_p.L449_splice|CDC14B_ENST00000375242.3_Splice_Site_p.L451_splice|CDC14B_ENST00000463569.1_3'UTR|CDC14B_ENST00000265659.2_Intron	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													69	280					0	0	1	0	0	A	99266070	G	A	99266070	5	1	22	1	0	0	0	0	0	0	1	0	3079	956	33	2	38	2	CDC14B	9	99266070	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45381	99266070	41947361	9872	12018											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													124	583					0	0	1	0	0	C	99521177	T	C	99521177	3	2	22	1	0	0	0	0	1	0	0	0	18011	1628	57	3	120	3	ZNF510	9	99521177	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	255107	99521177	41692254	9873	12019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	330					0	0	1	0	0	G	99580223	T	G	99580223	3	3	22	1	0	0	0	0	1	0	0	0	18204	1606	56	3	21	3	ZNF782	9	99580223	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	59046	99580223	41633208	9874	12020											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	346					4.29146e-36	5.13238e-36	1	1	0	T	99581465	G	T	99581465	3	4	22	1	0	0	0	0	1	0	0	0	18204	933	33	2	1263	2	ZNF782	9	99581465	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1242	99581465	41631966	9875	12021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	294					0	0	1	0	0	T	99581773	C	T	99581773	3	4	22	1	0	0	0	0	1	0	0	0	18204	594	21	2	1571	2	ZNF782	9	99581773	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	308	99581773	41631658	9876	12022											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	TSTD2_ENST00000375172.2_Nonsense_Mutation_p.Y195*|TSTD2_ENST00000375173.1_Nonsense_Mutation_p.Y17*	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													66	250					1.64573e-32	1.94376e-32	1	1	0	T	100365039	G	T	100365039	4	4	22	1	0	0	0	0	0	1	0	0	16737	1024	36	2	291	2	TSTD2	9	100365039	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	783266	100365039	40848392	9877	12023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	160					0	0	1	0	0	T	100617275	C	T	100617275	3	4	22	1	0	0	0	0	1	0	0	0	6037	739	26	2	1081	2	FOXE1	9	100617275	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	252236	100617275	40596156	9878	12024											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													231	1035					2.87422e-67	3.6404e-67	1	1	0	A	100693016	C	A	100693016	3	1	22	1	0	0	0	0	1	0	0	0	7091	913	32	2	801	2	HEMGN	9	100693016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75741	100693016	40520415	9879	12025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375098.3_Missense_Mutation_p.R304W|TRIM14_ENST00000342043.3_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													21	59					0	0	1	0	0	A	100850171	G	A	100850171	3	1	22	1	0	0	0	0	1	0	0	0	16550	1086	38	1	422	1	TRIM14	9	100850171	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157155	100850171	40363260	9880	12026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000342112.5_Missense_Mutation_p.R656H|TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R414H	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													217	1048					0	0	1	0	0	T	100961829	C	T	100961829	3	4	22	1	0	0	0	0	1	0	0	0	15665	768	27	1	169	1	TBC1D2	9	100961829	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111658	100961829	40251602	9881	12027											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000342112.5_Silent_p.S538S|TBC1D2_ENST00000375064.1_Silent_p.S756S|TBC1D2_ENST00000375063.1_Silent_p.S296S	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													90	491					0	0	1	0	0	A	100965573	G	A	100965573	2	1	22	1	0	0	0	0	0	0	0	1	15665	1219	43	2		2	TBC1D2	9	100965573	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3744	100965573	40247858	9882	12028											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000342112.5_5'UTR|TBC1D2_ENST00000375064.1_Silent_p.R67R	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													63	334					0	0	1	0	0	A	101017623	G	A	101017623	2	1	22	1	0	0	0	0	0	0	0	1	15665	958	34	2		2	TBC1D2	9	101017623	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52050	101017623	40195808	9883	12029											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	193					0	0	1	0	0	A	101125090	G	A	101125090	2	1	22	1	0	0	0	0	0	0	0	1	6191	1048	37	1		1	GABBR2	9	101125090	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107467	101125090	40088341	9884	12030											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	188					0	0	1	0	0	T	101304292	C	T	101304292	3	4	22	1	0	0	0	0	1	0	0	0	6191	884	31	1	2400	1	GABBR2	9	101304292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179202	101304292	39909139	9885	12031											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	245					0	0	1	0	0	A	101340265	G	A	101340265	2	1	22	1	0	0	0	0	0	0	0	1	6191	1103	39	1		1	GABBR2	9	101340265	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35973	101340265	39873166	9886	12032											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540940.1_Silent_p.T543T|ANKS6_ENST00000375019.2_Silent_p.T437T|ANKS6_ENST00000375018.1_Silent_p.T739T			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													72	271					0	0	1	0	0	T	101518814	C	T	101518814	2	4	22	1	0	0	0	0	0	0	0	1	686	755	27	1		1	ANKS6	9	101518814	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178549	101518814	39694617	9887	12033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540940.1_Missense_Mutation_p.R381W|ANKS6_ENST00000375019.2_Missense_Mutation_p.R275W|ANKS6_ENST00000375018.1_Missense_Mutation_p.R576W			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													64	303					0	0	1	0	0	A	101536254	G	A	101536254	3	1	22	1	0	0	0	0	1	0	0	0	686	1115	39	1	917	1	ANKS6	9	101536254	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17440	101536254	39677177	9888	12034											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540940.1_Nonsense_Mutation_p.R346*|ANKS6_ENST00000375019.2_Nonsense_Mutation_p.R240*|ANKS6_ENST00000375018.1_Nonsense_Mutation_p.R541*			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													30	177					0	0	1	0	0	A	101536359	G	A	101536359	4	1	22	1	0	0	0	0	0	1	0	0	686	1066	37	1	1022	1	ANKS6	9	101536359	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105	101536359	39677072	9889	12035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540940.1_Missense_Mutation_p.L59P|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000375018.1_Missense_Mutation_p.L254P|ANKS6_ENST00000471846.1_5'UTR			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													12	388					0	0	1	0	0	G	101552487	A	G	101552487	3	3	22	1	0	0	0	0	1	0	0	0	686	304	11	3	1910	3	ANKS6	9	101552487	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16128	101552487	39660944	9890	12036											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	139					0	0	1	0	0	C	101747863	T	C	101747863	2	2	22	1	0	0	0	0	0	0	0	1	3695	1654	58	3		3	COL15A1	9	101747863	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	195376	101747863	39465568	9891	12037											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	589					3.84483e-29	4.48846e-29	1	1	0	T	101748190	G	T	101748190	3	4	22	1	0	0	0	0	1	0	0	0	3695	991	35	2	454	2	COL15A1	9	101748190	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	327	101748190	39465241	9892	12038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	212					0	0	1	0	0	G	101782700	A	G	101782700	2	3	22	1	0	0	0	0	0	0	0	1	3695	262	10	3		3	COL15A1	9	101782700	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34510	101782700	39430731	9893	12039											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	396					5.03518e-11	5.3609e-11	1	1	0	A	101798455	C	A	101798455	3	1	22	1	0	0	0	0	1	0	0	0	3695	913	32	2	2371	2	COL15A1	9	101798455	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15755	101798455	39414976	9894	12040											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	425					0	0	1	0	0	A	101904853	G	A	101904853	3	1	22	1	0	0	0	0	1	0	0	0	15881	942	33	2	859	2	TGFBR1	9	101904853	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106398	101904853	39308578	9895	12041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395097.2_Missense_Mutation_p.V76M|NR4A3_ENST00000338488.4_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								60	336					0	0	1	0	0	A	102590550	G	A	102590550	3	1	22	1	0	0	0	0	1	0	0	0	10682	1145	40	1	265	1	NR4A3	9	102590550	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	685697	102590550	38622881	9896	12042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395097.2_Silent_p.L374L|NR4A3_ENST00000338488.4_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								65	342					0	0	1	0	0	A	102595604	G	A	102595604	2	1	22	1	0	0	0	0	0	0	0	1	10682	1306	46	2		2	NR4A3	9	102595604	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5054	102595604	38617827	9897	12043											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	122					0	0	1	0	0	A	102747327	G	A	102747327	2	1	22	1	0	0	0	0	0	0	0	1	5271	1049	37	1		1	ERP44	9	102747327	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	151723	102747327	38466104	9898	12044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	251					0	0	1	0	0	C	103312424	T	C	103312424	3	2	22	1	0	0	0	0	1	0	0	0	16073	1406	49	3	783	3	TMEFF1	9	103312424	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	565097	103312424	37901007	9899	12045											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	356					0	0	1	0	0	G	104071653	T	G	104071653	3	3	22	1	0	0	0	0	1	0	0	0	8969	1644	57	3	560	3	LPPR1	9	104071653	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	759229	104071653	37141778	9900	12046											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	224					4.17463e-26	4.80398e-26	1	1	0	T	104124866	G	T	104124866	2	4	22	1	0	0	0	0	0	0	0	1	1278	987	35	2		2	BAAT	9	104124866	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53213	104124866	37088565	9901	12047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	250					0	0	1	0	0	T	104130535	C	T	104130535	3	4	22	1	0	0	0	0	1	0	0	0	1278	797	28	2	728	2	BAAT	9	104130535	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5669	104130535	37082896	9902	12048											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000339664.2_Silent_p.D59D|ZNF189_ENST00000259395.4_Silent_p.D17D	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													13	81					0	0	1	0	0	C	104170227	T	C	104170227	2	2	22	1	0	0	0	0	0	0	0	1	17812	1403	49	3		3	ZNF189	9	104170227	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39692	104170227	37043204	9903	12049											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000339664.2_Missense_Mutation_p.R252M|ZNF189_ENST00000259395.4_Missense_Mutation_p.R210M	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													216	928					9.62737e-85	1.23358e-84	1	1	0	T	104170805	G	T	104170805	3	4	22	1	0	0	0	0	1	0	0	0	17812	1000	35	2	765	2	ZNF189	9	104170805	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	578	104170805	37042626	9904	12050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ALDOB_ENST00000468981.2_5'UTR	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													46	203					0	0	1	0	0	T	104193076	C	T	104193076	3	4	22	1	0	0	0	0	1	0	0	0	505	739	26	2	1032	2	ALDOB	9	104193076	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22271	104193076	37020355	9905	12051											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	354					0	0	1	0	0	A	104303164	G	A	104303164	3	1	22	1	0	0	0	0	1	0	0	0	13525	1175	41	2	549	2	RNF20	9	104303164	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110088	104303164	36910267	9906	12052											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	226					0	0	1	0	0	C	104390655	A	C	104390655	3	2	22	1	0	0	0	0	1	0	0	0	6824	14	1	3	990	3	GRIN3A	9	104390655	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	87491	104390655	36822776	9907	12053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	325					0	0	1	0	0	C	104432737	A	C	104432737	3	2	22	1	0	0	0	0	1	0	0	0	6824	69	3	3	1418	3	GRIN3A	9	104432737	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	42082	104432737	36780694	9908	12054											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	402					4.73848e-44	5.79357e-44	1	1	0	T	104449311	G	T	104449311	3	4	22	1	0	0	0	0	1	0	0	0	6824	1000	35	2	2508	2	GRIN3A	9	104449311	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16574	104449311	36764120	9909	12055											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	138					0	0	1	0	0	C	105767015	A	C	105767015	3	2	22	1	0	0	0	0	1	0	0	0	4165	40	2	3	233	3	CYLC2	9	105767015	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1317704	105767015	35446416	9910	12056											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374787.3_Missense_Mutation_p.G119E|SMC2_ENST00000374793.3_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													9	402					0	0	1	0	0	A	106860764	G	A	106860764	3	1	22	1	0	0	0	0	1	0	0	0	14837	1174	41	2	366	2	SMC2	9	106860764	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1093749	106860764	34352667	9911	12057											
SMC2	10592	broad.mit.edu	37	chr9	106864318	106864319	+	Frame_Shift_Ins	INS	-	-	T													gtttatatattgcttatcagINStttttgctggctgaagatac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:106864318_106864319insT	ENST00000286398.7	+	8	1002_1003	c.714_715insT	c.(712-717)cattttfs	p.HF238fs	SMC2_ENST00000374793.3_Frame_Shift_Ins_p.HF238fs|SMC2_ENST00000303219.8_Frame_Shift_Ins_p.HF238fs|SMC2_ENST00000374787.3_Frame_Shift_Ins_p.HF238fs	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	238					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						TTGCTTATCAGTTTTTGCTGGC	0.332													72	417	---	---	---	---						T	106864319	-	T	106864318	7	5	22	1	0	1	1	0	0	0	0	0	14837	1020	36	0	740	0	SMC2	9	106864318	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	3554	106864318	34349113	9912	12058											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374787.3_Nonsense_Mutation_p.E449*|SMC2_ENST00000374793.3_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													47	259					7.88023e-25	9.02574e-25	1	1	0	T	106875687	G	T	106875687	4	4	22	1	0	0	0	0	0	1	0	0	14837	943	33	2	1383	2	SMC2	9	106875687	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11369	106875687	34337744	9913	12059											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374787.3_Missense_Mutation_p.A1054V|SMC2_ENST00000374793.3_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													14	386					0	0	1	0	0	T	106896748	C	T	106896748	3	4	22	1	0	0	0	0	1	0	0	0	14837	797	28	2	3247	2	SMC2	9	106896748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21061	106896748	34316683	9914	12060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	382					1.30681e-28	1.52204e-28	1	1	0	A	107266825	C	A	107266825	3	1	22	1	0	0	0	0	1	0	0	0	10989	912	32	2	284	2	OR13F1	9	107266825	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	370077	107266825	33946606	9915	12061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	487					0	0	1	0	0	A	107288998	G	A	107288998	4	1	22	1	0	0	0	0	0	1	0	0	10984	1095	38	1	465	1	OR13C4	9	107288998	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22173	107288998	33924433	9916	12062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	315					0	0	1	0	0	G	107332160	T	G	107332160	3	3	22	1	0	0	0	0	1	0	0	0	10986	1609	56	3	714	3	OR13C8	9	107332160	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43162	107332160	33881271	9917	12063											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	296					0	0	1	0	0	T	107360921	C	T	107360921	3	4	22	1	0	0	0	0	1	0	0	0	10985	478	17	2	184	2	OR13C5	9	107360921	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28761	107360921	33852510	9918	12064											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	284					7.10663e-31	8.35009e-31	1	1	0	T	107379810	G	T	107379810	3	4	22	1	0	0	0	0	1	0	0	0	10987	1000	35	2	283	2	OR13C9	9	107379810	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18889	107379810	33833621	9919	12065											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	381					0	0	1	0	0	T	107379988	C	T	107379988	2	4	22	1	0	0	0	0	0	0	0	1	10987	709	25	2		2	OR13C9	9	107379988	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178	107379988	33833443	9920	12066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	494					0	0	1	0	0	T	107528697	C	T	107528697	3	4	22	1	0	0	0	0	1	0	0	0	10478	768	27	1	158	1	NIPSNAP3B	9	107528697	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148709	107528697	33684734	9921	12067											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	491					7.45023e-12	7.97024e-12	1	1	0	A	107546610	C	A	107546610	4	1	22	1	0	0	0	0	0	1	0	0	28	922	32	2	17	2	ABCA1	9	107546610	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17913	107546610	33666821	9922	12068											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	318					0	0	1	0	0	A	107546686	G	A	107546686	2	1	22	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	9923	12069											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	209					0	0	1	0	0	C	107547688	T	C	107547688	3	2	22	1	0	0	0	0	1	0	0	0	28	1725	60	3	159	3	ABCA1	9	107547688	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1002	107547688	33665743	9924	12070											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107589230G>A	ENST00000374736.3	-	16	2730	c.2337_splice	c.e16+1	p.A779_splice	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													32	160					0	0	1	0	0	A	107589230	G	A	107589230	5	1	22	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	9925	12071											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	228					0	0	1	0	0	A	107591298	G	A	107591298	3	1	22	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	9926	12072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374724.1_Missense_Mutation_p.L139I|SLC44A1_ENST00000374723.1_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													78	343					4.8811e-34	5.79764e-34	1	1	0	A	108110647	C	A	108110647	3	1	22	1	0	0	0	0	1	0	0	0	14690	680	24	2	433	2	SLC44A1	9	108110647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	519349	108110647	33102784	9927	12073											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374724.1_Silent_p.I532I|SLC44A1_ENST00000343170.7_Silent_p.I324I|SLC44A1_ENST00000374723.1_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													103	490					0	0	1	0	0	T	108136980	C	T	108136980	2	4	22	1	0	0	0	0	0	0	0	1	14690	816	29	2		2	SLC44A1	9	108136980	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26333	108136980	33076451	9928	12074											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448551.2_Silent_p.G181G|FKTN_ENST00000602661.1_Silent_p.G181G|FKTN_ENST00000540160.1_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													64	361					0	0	1	0	0	T	108366669	C	T	108366669	2	4	22	1	0	0	0	0	0	0	0	1	5952	697	25	2		2	FKTN	9	108366669	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	229689	108366669	32846762	9929	12075											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								56	232					0	0	1	0	0	T	108424910	C	T	108424910	3	4	22	1	0	0	0	0	1	0	0	0	15599	884	31	1	135	1	TAL2	9	108424910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58241	108424910	32788521	9930	12076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	240					0	0	1	0	0	T	109686536	C	T	109686536	3	4	22	1	0	0	0	0	1	0	0	0	17983	536	19	1	349	1	ZNF462	9	109686536	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1261626	109686536	31526895	9931	12077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													146	632					0	0	1	0	0	A	109689396	G	A	109689396	3	1	22	1	0	0	0	0	1	0	0	0	17983	1058	37	1	3209	1	ZNF462	9	109689396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2860	109689396	31524035	9932	12078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457913.1_Silent_p.V1160V|ZNF462_ENST00000441147.2_Silent_p.V5V			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													170	621					0	0	1	0	0	T	109689673	C	T	109689673	2	4	22	1	0	0	0	0	0	0	0	1	17983	871	31	1		1	ZNF462	9	109689673	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	277	109689673	31523758	9933	12079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457913.1_Missense_Mutation_p.E1323K|ZNF462_ENST00000441147.2_Missense_Mutation_p.E168K			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													11	607					0	0	1	0	0	A	109690160	G	A	109690160	3	1	22	1	0	0	0	0	1	0	0	0	17983	1175	41	2	3973	2	ZNF462	9	109690160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	487	109690160	31523271	9934	12080											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000497489.1_3'UTR|ZNF462_ENST00000457913.1_Missense_Mutation_p.A2077V|ZNF462_ENST00000441147.2_Missense_Mutation_p.A923V			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													6	301					0	0	1	0	0	T	109694764	C	T	109694764	3	4	22	1	0	0	0	0	1	0	0	0	17983	739	26	2	6064	2	ZNF462	9	109694764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4604	109694764	31518667	9935	12081											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457913.1_Missense_Mutation_p.P2233H|ZNF462_ENST00000441147.2_Missense_Mutation_p.P1079H|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													27	292					7.41945e-09	7.77385e-09	1	1	0	A	109734376	C	A	109734376	3	1	22	1	0	0	0	0	1	0	0	0	17983	681	24	2	6544	2	ZNF462	9	109734376	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39612	109734376	31479055	9936	12082											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457913.1_Missense_Mutation_p.R2340C|ZNF462_ENST00000441147.2_Missense_Mutation_p.R1186C|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													47	278					0	0	1	0	0	T	109746472	C	T	109746472	3	4	22	1	0	0	0	0	1	0	0	0	17983	768	27	1	6872	1	ZNF462	9	109746472	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12096	109746472	31466959	9937	12083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					35	140					0	0	1	0	0	T	110084292	C	T	110084292	3	4	22	1	0	0	0	0	1	0	0	0	13035	797	28	2	736	2	RAD23B	9	110084292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	337820	110084292	31129139	9938	12084											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	263					3.63617e-18	4.02878e-18	1	1	0	A	110248208	C	A	110248208	5	1	22	1	0	0	0	0	0	0	1	0	8391	695	24	2	179	2	KLF4	9	110248208	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163916	110248208	30965223	9939	12085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	112					0	0	1	0	0	T	110249902	C	T	110249902	3	4	22	1	0	0	0	0	1	0	0	0	8391	797	28	2	678	2	KLF4	9	110249902	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1694	110249902	30963529	9940	12086											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	434					0	0	1	0	0	A	111617062	G	A	111617062	2	1	22	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	9941	12087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	343					0	0	1	0	0	C	111625138	A	C	111625138	3	2	22	1	0	0	0	0	1	0	0	0	200	43	2	3	538	3	ACTL7A	9	111625138	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8076	111625138	29588293	9942	12088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	321					0	0	1	0	0	A	111653624	G	A	111653624	3	1	22	1	0	0	0	0	1	0	0	0	7654	971	34	2	1019	2	IKBKAP	9	111653624	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28486	111653624	29559807	9943	12089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	453					0	0	1	0	0	A	111685171	G	A	111685171	3	1	22	1	0	0	0	0	1	0	0	0	7654	1377	48	2	3623	2	IKBKAP	9	111685171	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31547	111685171	29528260	9944	12090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000325580.6_Missense_Mutation_p.D567G|FAM206A_ENST00000374624.3_Intron|CTNNAL1_ENST00000374594.1_Missense_Mutation_p.D52G|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													57	320					0	0	1	0	0	C	111706086	T	C	111706086	3	2	22	1	0	0	0	0	1	0	0	0	4039	1435	50	3	264	3	CTNNAL1	9	111706086	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20915	111706086	29507345	9945	12091											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000325580.6_Missense_Mutation_p.K63T|CTNNAL1_ENST00000374593.4_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													124	655					0	0	1	0	0	G	111761490	T	G	111761490	3	3	22	1	0	0	0	0	1	0	0	0	4039	1841	64	3	2088	3	CTNNAL1	9	111761490	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	55404	111761490	29451941	9946	12092											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	205					5.50884e-06	5.65664e-06	1	1	0	A	111936884	C	A	111936884	4	1	22	1	0	0	0	0	0	1	0	0	5184	864	30	2	53	2	EPB41L4B	9	111936884	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175394	111936884	29276547	9947	12093											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	431					5.12507e-49	6.33484e-49	1	1	0	T	111956567	G	T	111956567	3	4	22	1	0	0	0	0	1	0	0	0	5184	1232	43	2	570	2	EPB41L4B	9	111956567	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19683	111956567	29256864	9948	12094											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	341					0	0	1	0	0	T	112017853	C	T	112017853	2	4	22	1	0	0	0	0	0	0	0	1	5184	755	27	1		1	EPB41L4B	9	112017853	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61286	112017853	29195578	9949	12095											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000262539.3_Missense_Mutation_p.E471D|PTPN3_ENST00000374541.2_Missense_Mutation_p.E625D|PTPN3_ENST00000446349.1_Missense_Mutation_p.E449D|PTPN3_ENST00000394827.3_Missense_Mutation_p.E93D	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													7	355					1.06961e-07	1.11297e-07	1	1	0	A	112166806	C	A	112166806	3	1	22	1	0	0	0	0	1	0	0	0	12841	680	24	2	898	2	PTPN3	9	112166806	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148953	112166806	29046625	9950	12096											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	471					0	0	1	0	0	A	112216845	G	A	112216845	3	1	22	1	0	0	0	0	1	0	0	0	12841	1232	43	2	2530	2	PTPN3	9	112216845	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50039	112216845	28996586	9951	12097											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000483909.1_Silent_p.P340P|PALM2_ENST00000374531.2_Silent_p.P342P|AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000314527.4_Silent_p.P374P|PALM2-AKAP2_ENST00000302798.7_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													92	462					0	0	1	0	0	A	112705591	G	A	112705591	2	1	22	1	0	0	0	0	0	0	0	1	11456	1103	39	1		1	PALM2	9	112705591	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	488746	112705591	28507840	9952	12098											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*|AKAP2_ENST00000434623.2_Nonsense_Mutation_p.C153*|AKAP2_ENST00000555236.1_Nonsense_Mutation_p.C295*|AKAP2_ENST00000510514.5_Nonsense_Mutation_p.C295*|AKAP2_ENST00000259318.7_Nonsense_Mutation_p.C64*|PALM2-AKAP2_ENST00000302798.7_Nonsense_Mutation_p.C295*	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													89	470					3.1376e-36	3.75457e-36	1	1	0	A	112898709	C	A	112898709	4	1	22	1	0	0	0	0	0	1	0	0	11457	805	28	2	915	2	PALM2-AKAP2	9	112898709	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193118	112898709	28314722	9953	12099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|AKAP2_ENST00000434623.2_Missense_Mutation_p.A266T|AKAP2_ENST00000555236.1_Missense_Mutation_p.A408T|AKAP2_ENST00000510514.5_Missense_Mutation_p.A408T|AKAP2_ENST00000259318.7_Missense_Mutation_p.A177T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A408T	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													57	232					0	0	1	0	0	A	112899046	G	A	112899046	3	1	22	1	0	0	0	0	1	0	0	0	11457	1203	42	2	1252	2	PALM2-AKAP2	9	112899046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	337	112899046	28314385	9954	12100											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|AKAP2_ENST00000434623.2_Missense_Mutation_p.E403K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E545K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E545K|AKAP2_ENST00000259318.7_Missense_Mutation_p.E314K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E545K	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													5	136					0	0	1	0	0	A	112899457	G	A	112899457	3	1	22	1	0	0	0	0	1	0	0	0	11457	1175	41	2	1663	2	PALM2-AKAP2	9	112899457	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	411	112899457	28313974	9955	12101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|AKAP2_ENST00000434623.2_Silent_p.T579T|AKAP2_ENST00000555236.1_Silent_p.T721T|AKAP2_ENST00000510514.5_Silent_p.T721T|AKAP2_ENST00000259318.7_Silent_p.T490T|PALM2-AKAP2_ENST00000302798.7_Silent_p.T721T	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													9	506					0	0	1	0	0	T	112899987	C	T	112899987	2	4	22	1	0	0	0	0	0	0	0	1	11457	610	22	2		2	PALM2-AKAP2	9	112899987	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	530	112899987	28313444	9956	12102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|AKAP2_ENST00000434623.2_Missense_Mutation_p.A659D|AKAP2_ENST00000555236.1_Missense_Mutation_p.A801D|AKAP2_ENST00000510514.5_Missense_Mutation_p.A801D|AKAP2_ENST00000259318.7_Missense_Mutation_p.A570D|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A801D	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													33	151					2.61193e-14	2.83483e-14	1	1	0	A	112900226	C	A	112900226	3	1	22	1	0	0	0	0	1	0	0	0	11457	797	28	2	2432	2	PALM2-AKAP2	9	112900226	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239	112900226	28313205	9957	12103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000482335.1_3'UTR|AKAP2_ENST00000374525.1_Missense_Mutation_p.A818D|AKAP2_ENST00000434623.2_Missense_Mutation_p.A818D|AKAP2_ENST00000555236.1_Missense_Mutation_p.A960D|AKAP2_ENST00000510514.5_Missense_Mutation_p.A960D|AKAP2_ENST00000259318.7_Missense_Mutation_p.A729D|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A960D	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													38	274					1.07637e-12	1.15814e-12	1	1	0	A	112900703	C	A	112900703	3	1	22	1	0	0	0	0	1	0	0	0	11457	797	28	2	2909	2	PALM2-AKAP2	9	112900703	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	477	112900703	28312728	9958	12104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	754					0	0	1	0	0	T	112963456	C	T	112963456	2	4	22	1	0	0	0	0	0	0	0	1	2481	912	32	2		2	C9orf152	9	112963456	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62753	112963456	28249975	9959	12105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000487892.1_5'UTR|TXN_ENST00000374515.5_Missense_Mutation_p.A79S	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													35	102					4.32679e-17	4.76816e-17	1	1	0	A	113006460	C	A	113006460	3	1	22	1	0	0	0	0	1	0	0	0	16852	797	28	2	26	2	TXN	9	113006460	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43004	113006460	28206971	9960	12106											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													188	769					0	0	1	0	0	C	113166795	T	C	113166795	3	2	22	1	0	0	0	0	1	0	0	0	15476	1638	57	3	1277	3	SVEP1	9	113166795	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	160335	113166795	28046636	9961	12107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	301					0	0	1	0	0	A	113170918	G	A	113170918	3	1	22	1	0	0	0	0	1	0	0	0	15476	1203	42	2	3797	2	SVEP1	9	113170918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4123	113170918	28042513	9962	12108											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	119					0	0	1	0	0	T	113173864	C	T	113173864	3	4	22	1	0	0	0	0	1	0	0	0	15476	710	25	2	4636	2	SVEP1	9	113173864	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2946	113173864	28039567	9963	12109											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	426					2.01383e-38	2.42724e-38	1	1	0	T	113194818	G	T	113194818	2	4	22	1	0	0	0	0	0	0	0	1	15476	958	34	2		2	SVEP1	9	113194818	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20954	113194818	28018613	9964	12110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.T355A|SVEP1_ENST00000374461.1_Missense_Mutation_p.T332A|SVEP1_ENST00000374469.1_Missense_Mutation_p.T332A	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													15	62					0	0	1	0	0	C	113276288	T	C	113276288	3	2	22	1	0	0	0	0	1	0	0	0	15476	1696	59	3	9832	3	SVEP1	9	113276288	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81470	113276288	27937143	9965	12111											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Nonsense_Mutation_p.R212*|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.R189*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.R189*	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													111	370					0	0	1	0	0	A	113312282	G	A	113312282	4	1	22	1	0	0	0	0	0	1	0	0	15476	1095	38	1	10269	1	SVEP1	9	113312282	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35994	113312282	27901149	9966	12112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.S199P|SVEP1_ENST00000374461.1_Missense_Mutation_p.S176P|SVEP1_ENST00000374469.1_Missense_Mutation_p.S176P	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													107	590					0	0	1	0	0	G	113312321	A	G	113312321	3	3	22	1	0	0	0	0	1	0	0	0	15476	246	9	3	10308	3	SVEP1	9	113312321	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39	113312321	27901110	9967	12113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113509922T>G	ENST00000416899.2	+	7	881	c.753_splice	c.e7-1	p.V252_splice	MUSK_ENST00000374448.4_Splice_Site_p.V252_splice|MUSK_ENST00000189978.5_Splice_Site_p.V252_splice			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													32	696					0	0	1	0	0	G	113509922	T	G	113509922	5	3	22	1	0	0	0	0	0	0	1	0	10037	1739	60	3	815	3	MUSK	9	113509922	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	197601	113509922	27703509	9968	12114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374448.4_Missense_Mutation_p.R449S|MUSK_ENST00000374438.1_Missense_Mutation_p.T41P|MUSK_ENST00000189978.5_Missense_Mutation_p.R449S			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													114	574					0	0	1	0	0	C	113538230	A	C	113538230	3	2	22	1	0	0	0	0	1	0	0	0	10037	272	10	3	1417	3	MUSK	9	113538230	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28308	113538230	27675201	9969	12115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374448.4_Missense_Mutation_p.N551S|MUSK_ENST00000374438.1_Missense_Mutation_p.N67S|MUSK_ENST00000189978.5_Missense_Mutation_p.N551S			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													120	755					0	0	1	0	0	G	113547872	A	G	113547872	3	3	22	1	0	0	0	0	1	0	0	0	10037	43	2	3	1734	3	MUSK	9	113547872	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9642	113547872	27665559	9970	12116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538760.1_Missense_Mutation_p.T114I|LPAR1_ENST00000541779.1_Missense_Mutation_p.T114I|LPAR1_ENST00000374430.2_Missense_Mutation_p.T113I|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													127	672					0	0	1	0	0	A	113704156	G	A	113704156	3	1	22	1	0	0	0	0	1	0	0	0	8949	1029	36	2	764	2	LPAR1	9	113704156	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156284	113704156	27509275	9971	12117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538760.1_Missense_Mutation_p.A90T|LPAR1_ENST00000541779.1_Missense_Mutation_p.A90T|LPAR1_ENST00000374430.2_Missense_Mutation_p.A89T|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													110	555					0	0	1	0	0	T	113704229	C	T	113704229	3	4	22	1	0	0	0	0	1	0	0	0	8949	739	26	2	837	2	LPAR1	9	113704229	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73	113704229	27509202	9972	12118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538760.1_Nonsense_Mutation_p.G55*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.G55*|LPAR1_ENST00000374430.2_Nonsense_Mutation_p.G54*|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													70	362					1.56214e-13	1.68846e-13	1	1	0	A	113704334	C	A	113704334	4	1	22	1	0	0	0	0	0	1	0	0	8949	632	22	2	942	2	LPAR1	9	113704334	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105	113704334	27509097	9973	12119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	311					5.08636e-23	5.77245e-23	1	1	0	A	114089992	C	A	114089992	3	1	22	1	0	0	0	0	1	0	0	0	11053	507	18	2	231	2	OR2K2	9	114089992	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	385658	114089992	27123439	9974	12120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	219					0	0	1	0	0	T	114090685	C	T	114090685	3	4	22	1	0	0	0	0	1	0	0	0	11053	797	28	2	924	2	OR2K2	9	114090685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	693	114090685	27122746	9975	12121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	309					0	0	1	0	0	T	114134091	C	T	114134091	3	4	22	1	0	0	0	0	1	0	0	0	8213	884	31	1	1004	1	KIAA0368	9	114134091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43406	114134091	27079340	9976	12122											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	319					0	0	1	0	0	A	114140876	G	A	114140876	3	1	22	1	0	0	0	0	1	0	0	0	8213	1087	38	1	1641	1	KIAA0368	9	114140876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6785	114140876	27072555	9977	12123											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	134					0	0	1	0	0	G	114178627	A	G	114178627	2	3	22	1	0	0	0	0	0	0	0	1	8213	291	11	3		3	KIAA0368	9	114178627	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	37751	114178627	27034804	9978	12124											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374287.3_Missense_Mutation_p.S1324Y|C9orf84_ENST00000394777.4_Missense_Mutation_p.S1250Y|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													27	327					1.77063e-15	1.9355e-15	1	1	0	T	114454094	G	T	114454094	3	4	22	1	0	0	0	0	1	0	0	0	2518	942	33	2	371	2	C9orf84	9	114454094	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275467	114454094	26759337	9979	12125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374287.3_Missense_Mutation_p.E1227D|C9orf84_ENST00000394777.4_Missense_Mutation_p.E1153D|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													7	354					0.000157383	0.000159814	1	1	0	A	114454384	C	A	114454384	3	1	22	1	0	0	0	0	1	0	0	0	2518	564	20	2	661	2	C9orf84	9	114454384	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	290	114454384	26759047	9980	12126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374287.3_Missense_Mutation_p.I346R|C9orf84_ENST00000394777.4_Missense_Mutation_p.I307R|C9orf84_ENST00000318737.4_Missense_Mutation_p.I346R|C9orf84_ENST00000374283.5_Missense_Mutation_p.I410R	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													67	303					0	0	1	0	0	C	114500748	A	C	114500748	3	2	22	1	0	0	0	0	1	0	0	0	2518	449	16	3	3365	3	C9orf84	9	114500748	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	46364	114500748	26712683	9981	12127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	179					0	0	1	0	0	T	114693625	C	T	114693625	3	4	22	1	0	0	0	0	1	0	0	0	16999	855	30	2	838	2	UGCG	9	114693625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192877	114693625	26519806	9982	12128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	376					0	0	1	0	0	C	114825286	A	C	114825286	3	2	22	1	0	0	0	0	1	0	0	0	15463	14	1	3	482	3	SUSD1	9	114825286	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	131661	114825286	26388145	9983	12129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	297					0	0	1	0	0	A	114874056	G	A	114874056	3	1	22	1	0	0	0	0	1	0	0	0	15463	1261	44	2	1234	2	SUSD1	9	114874056	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48770	114874056	26339375	9984	12130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536272.1_Missense_Mutation_p.E10D|KIAA1958_ENST00000374244.3_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													67	297					2.69673e-31	3.17273e-31	1	1	0	T	115336390	G	T	115336390	3	4	22	1	0	0	0	0	1	0	0	0	8306	933	33	2	32	2	KIAA1958	9	115336390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	462334	115336390	25877041	9985	12131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	365					0	0	1	0	0	A	115421560	G	A	115421560	2	1	22	1	0	0	0	0	0	0	0	1	8306	1281	45	2		2	KIAA1958	9	115421560	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85170	115421560	25791871	9986	12132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	112					0	0	1	0	0	T	115421772	C	T	115421772	3	4	22	1	0	0	0	0	1	0	0	0	8306	768	27	1	1584	1	KIAA1958	9	115421772	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212	115421772	25791659	9987	12133											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	238					0	0	1	0	0	T	115652542	C	T	115652542	2	4	22	1	0	0	0	0	0	0	0	1	14700	639	23	1		1	SLC46A2	9	115652542	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	230770	115652542	25560889	9988	12134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	268					0	0	1	0	0	A	115759981	G	A	115759981	1	1	22	0	1	0	0	0	0	0	0	0	18241	1057	37	1		1	ZNF883	9	115759981	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107439	115759981	25453450	9989	12135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	98					0	0	1	0	0	T	115928378	C	T	115928378	3	4	22	1	0	0	0	0	1	0	0	0	5938	826	29	2	23	2	FKBP15	9	115928378	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168397	115928378	25285053	9990	12136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	87					0	0	1	0	0	T	115962165	C	T	115962165	3	4	22	1	0	0	0	0	1	0	0	0	5938	710	25	2	3170	2	FKBP15	9	115962165	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33787	115962165	25251266	9991	12137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	84					0	0	1	0	0	T	115965247	C	T	115965247	2	4	22	1	0	0	0	0	0	0	0	1	5938	796	28	2		2	FKBP15	9	115965247	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3082	115965247	25248184	9992	12138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461942.1_Intron|WDR31_ENST00000341761.4_Missense_Mutation_p.R19M			Q8NA23	WDR31_HUMAN	WD repeat domain 31											NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GACACAAAACCTAAACGAAAC	0.463													37	254					2.75727e-19	3.0731e-19	1	1	0	A	116094247	C	A	116094247	1	1	22	1	0	0	0	0	0	0	0	0	17346	681	24	2		2	WDR31	9	116094247	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129000	116094247	25119184	9993	12139											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	264					0	0	1	0	0	A	116187992	G	A	116187992	3	1	22	1	0	0	0	0	1	0	0	0	2501	1145	40	1	1050	1	C9orf43	9	116187992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93745	116187992	25025439	9994	12140											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116353676C>T	ENST00000374140.2	+	22	3288	c.3080_splice	c.e22+1	p.L1027_splice	RGS3_ENST00000374134.3_Splice_Site_p.L348_splice|RGS3_ENST00000343817.5_Splice_Site_p.L746_splice|RGS3_ENST00000350696.5_Splice_Site_p.L1027_splice|RGS3_ENST00000394646.3_Splice_Site_p.L420_splice|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Splice_Site_p.L348_splice	NM_144488.4	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													45	194					0	0	1	0	0	T	116353676	C	T	116353676	5	4	22	1	0	0	0	0	0	0	1	0	13356	695	24	2	3414	2	RGS3	9	116353676	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	165684	116353676	24859755	9995	12141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	452					0	0	1	0	0	T	116823712	C	T	116823712	3	4	22	1	0	0	0	0	1	0	0	0	560	884	31	1	225	1	AMBP	9	116823712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	470036	116823712	24389719	9996	12142											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	493					0	0	1	0	0	T	116840415	C	T	116840415	2	4	22	1	0	0	0	0	0	0	0	1	560	755	27	1		1	AMBP	9	116840415	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16703	116840415	24373016	9997	12143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	387					0	0	1	0	0	T	116856514	C	T	116856514	2	4	22	1	0	0	0	0	0	0	0	1	8315	796	28	2		2	KIF12	9	116856514	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16099	116856514	24356917	9998	12144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													171	608					0	0	1	0	0	T	117002747	C	T	117002747	3	4	22	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	9999	12145											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	301					0	0	1	0	0	A	117052362	G	A	117052362	3	1	22	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	10000	12146											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	385					2.01383e-38	2.42724e-38	1	1	0	A	117069983	C	A	117069983	2	1	22	1	0	0	0	0	0	0	0	1	3708	668	24	2		2	COL27A1	9	117069983	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17621	117069983	24143448	10001	12147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374088.3_Silent_p.S879S|AKNA_ENST00000374075.5_Silent_p.S798S	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													58	330					0	0	1	0	0	A	117120303	G	A	117120303	2	1	22	1	0	0	0	0	0	0	0	1	460	1103	39	1		1	AKNA	9	117120303	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50320	117120303	24093128	10002	12148											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056219.3	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													43	369					1.7489e-18	1.94175e-18	1	1	0	A	117185786	C	A	117185786	3	1	22	1	0	0	0	0	1	0	0	0	4483	680	24	2	1313	2	DFNB31	9	117185786	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65483	117185786	24027645	10003	12149											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	508					0	0	1	0	0	A	117666368	G	A	117666368	3	1	22	1	0	0	0	0	1	0	0	0	16371	1145	40	1	160	1	TNFSF8	9	117666368	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	480582	117666368	23547063	10004	12150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													119	475					0	0	1	0	0	C	117666569	T	C	117666569	3	2	22	1	0	0	0	0	1	0	0	0	16371	1725	60	3	361	3	TNFSF8	9	117666569	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	201	117666569	23546862	10005	12151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	532					1.08058e-43	1.32003e-43	1	1	0	T	117692528	G	T	117692528	3	4	22	1	0	0	0	0	1	0	0	0	16371	1203	42	2	664	2	TNFSF8	9	117692528	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25959	117692528	23520903	10006	12152											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Silent_p.V1171V|TNC_ENST00000542877.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000423613.2_Silent_p.V1171V|TNC_ENST00000340094.3_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													28	800					0	0	1	0	0	A	117826322	G	A	117826322	2	1	22	1	0	0	0	0	0	0	0	1	16330	1045	37	1		1	TNC	9	117826322	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133794	117826322	23387109	10007	12153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.L1156F|TNC_ENST00000542877.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.L1156F|TNC_ENST00000340094.3_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													181	1023					0	0	1	0	0	A	117826947	G	A	117826947	3	1	22	1	0	0	0	0	1	0	0	0	16330	971	34	2	3211	2	TNC	9	117826947	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	625	117826947	23386484	10008	12154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.I1106M|TNC_ENST00000542877.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.I1106M|TNC_ENST00000340094.3_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													96	486					0	0	1	0	0	C	117827095	A	C	117827095	3	2	22	1	0	0	0	0	1	0	0	0	16330	242	9	3	3359	3	TNC	9	117827095	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	148	117827095	23386336	10009	12155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346706.3_Missense_Mutation_p.P715H|TNC_ENST00000341037.4_Missense_Mutation_p.P715H|TNC_ENST00000542877.1_Missense_Mutation_p.P715H|TNC_ENST00000345230.3_Missense_Mutation_p.P715H|TNC_ENST00000535648.1_Missense_Mutation_p.P715H|TNC_ENST00000423613.2_Missense_Mutation_p.P715H|TNC_ENST00000340094.3_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													25	225					1.1804e-14	1.28451e-14	1	1	0	T	117845074	G	T	117845074	3	4	22	1	0	0	0	0	1	0	0	0	16330	1000	35	2	4557	2	TNC	9	117845074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17979	117845074	23368357	10010	12156											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346706.3_Missense_Mutation_p.I702M|TNC_ENST00000341037.4_Missense_Mutation_p.I702M|TNC_ENST00000542877.1_Missense_Mutation_p.I702M|TNC_ENST00000345230.3_Missense_Mutation_p.I702M|TNC_ENST00000535648.1_Missense_Mutation_p.I702M|TNC_ENST00000423613.2_Missense_Mutation_p.I702M|TNC_ENST00000340094.3_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													59	311					0	0	1	0	0	C	117846513	A	C	117846513	3	2	22	1	0	0	0	0	1	0	0	0	16330	242	9	3	4599	3	TNC	9	117846513	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1439	117846513	23366918	10011	12157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346706.3_Missense_Mutation_p.L653F|TNC_ENST00000341037.4_Missense_Mutation_p.L653F|TNC_ENST00000542877.1_Missense_Mutation_p.L653F|TNC_ENST00000345230.3_Missense_Mutation_p.L653F|TNC_ENST00000535648.1_Missense_Mutation_p.L653F|TNC_ENST00000423613.2_Missense_Mutation_p.L653F|TNC_ENST00000340094.3_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													54	279					0	0	1	0	0	A	117846662	G	A	117846662	3	1	22	1	0	0	0	0	1	0	0	0	16330	1000	35	2	4748	2	TNC	9	117846662	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149	117846662	23366769	10012	12158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346706.3_Nonsense_Mutation_p.C536*|TNC_ENST00000341037.4_Nonsense_Mutation_p.C536*|TNC_ENST00000542877.1_Nonsense_Mutation_p.C536*|TNC_ENST00000345230.3_Nonsense_Mutation_p.C536*|TNC_ENST00000535648.1_Nonsense_Mutation_p.C536*|TNC_ENST00000423613.2_Nonsense_Mutation_p.C536*|TNC_ENST00000340094.3_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													17	280					2.35188e-11	2.50879e-11	1	1	0	T	117848402	G	T	117848402	4	4	22	1	0	0	0	0	0	1	0	0	16330	1195	42	2	5101	2	TNC	9	117848402	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1740	117848402	23365029	10013	12159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346706.3_Silent_p.C516C|TNC_ENST00000341037.4_Silent_p.C516C|TNC_ENST00000542877.1_Silent_p.C516C|TNC_ENST00000345230.3_Silent_p.C516C|TNC_ENST00000535648.1_Silent_p.C516C|TNC_ENST00000423613.2_Silent_p.C516C|TNC_ENST00000340094.3_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													75	373					0	0	1	0	0	A	117848462	G	A	117848462	2	1	22	1	0	0	0	0	0	0	0	1	16330	1079	38	1		1	TNC	9	117848462	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	117848462	23364969	10014	12160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346706.3_Missense_Mutation_p.F274C|TNC_ENST00000341037.4_Missense_Mutation_p.F274C|TNC_ENST00000542877.1_Missense_Mutation_p.F274C|TNC_ENST00000345230.3_Missense_Mutation_p.F274C|TNC_ENST00000535648.1_Missense_Mutation_p.F274C|TNC_ENST00000423613.2_Missense_Mutation_p.F274C|TNC_ENST00000340094.3_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													81	435					0	0	1	0	0	C	117849189	A	C	117849189	3	2	22	1	0	0	0	0	1	0	0	0	16330	14	1	3	5888	3	TNC	9	117849189	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	727	117849189	23364242	10015	12161											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	226					0	0	1	0	0	T	118950319	C	T	118950319	2	4	22	1	0	0	0	0	0	0	0	1	11479	726	26	2		2	PAPPA	9	118950319	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1101130	118950319	22263112	10016	12162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	179					0	0	1	0	0	A	119093522	G	A	119093522	5	1	22	1	0	0	0	0	0	0	1	0	11479	1014	35	2	3189	2	PAPPA	9	119093522	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143203	119093522	22119909	10017	12163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	643					0	0	1	0	0	A	119158837	G	A	119158837	3	1	22	1	0	0	0	0	1	0	0	0	11479	1116	39	1	4912	1	PAPPA	9	119158837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65315	119158837	22054594	10018	12164	76	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	638					0	0	1	0	0	A	119158838	G	A	119158838	2	1	22	1	0	0	0	0	0	0	0	1	11479	1219	43	2		2	PAPPA	9	119158838	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1	119158838	22054593	10019	12165	76	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_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													110	480					0	0	1	0	0	A	119461183	G	A	119461183	3	1	22	1	0	0	0	0	1	0	0	0	16567	1087	38	1	1164	1	TRIM32	9	119461183	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302345	119461183	21752248	10020	12166											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_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													191	735					0	0	1	0	0	T	119461253	C	T	119461253	3	4	22	1	0	0	0	0	1	0	0	0	16567	623	22	2	1234	2	TRIM32	9	119461253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70	119461253	21752178	10021	12167											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.G588G			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													53	230					0	0	1	0	0	A	119737600	G	A	119737600	2	1	22	1	0	0	0	0	0	0	0	1	1064	1190	42	2		2	ASTN2	9	119737600	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	276347	119737600	21475831	10022	12168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.C457Y			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													26	117					0	0	1	0	0	T	119802151	C	T	119802151	3	4	22	1	0	0	0	0	1	0	0	0	1064	478	17	2	2953	2	ASTN2	9	119802151	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64551	119802151	21411280	10023	12169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	628					0	0	1	0	0	C	120475182	T	C	120475182	3	2	22	1	0	0	0	0	1	0	0	0	16013	1725	60	3	786	3	TLR4	9	120475182	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	673031	120475182	20738249	10024	12170											
DBC1	0	broad.mit.edu	37	chr9	121929970	121929970	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggggttgacatagacaaagaAcatggggtccaggctgctgt	15	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:121929970A>T	ENST00000265922.3	-	8	2139	c.1678T>A	c.(1678-1680)Ttc>Atc	p.F560I	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		560					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TAGACAAAGAACATGGGGTCC	0.557													17	257					0	0	1	0	0	T	121929970	A	T	121929970	3	4	22	1	0	0	0	0	1	0	0	0	4271	43	2	5	611	5	DBC1	9	121929970	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1454788	121929970	19283461	10025	12171											
DBC1	0	broad.mit.edu	37	chr9	121930116	121930116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaaagaaggtgtcgaggCggatctcgttgctgatgaag	16	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:121930116C>T	ENST00000265922.3	-	8	1993	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		511					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GGTGTCGAGGCGGATCTCGTT	0.562													12	285					0	0	1	0	0	T	121930116	C	T	121930116	3	4	22	1	0	0	0	0	1	0	0	0	4271	768	27	1	757	1	DBC1	9	121930116	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146	121930116	19283315	10026	12172											
DBC1	0	broad.mit.edu	37	chr9	122004453	122004453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcattccctgacttcctgtCgaggcgacttttgtccatat	9	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:122004453C>T	ENST00000265922.3	-	4	912	c.451G>A	c.(451-453)Gac>Aac	p.D151N	DBC1_ENST00000373964.2_Missense_Mutation_p.D151N	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		151	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GACTTCCTGTCGAGGCGACTT	0.488													22	201					0	0	1	0	0	T	122004453	C	T	122004453	3	4	22	1	0	0	0	0	1	0	0	0	4271	884	31	1	1854	1	DBC1	9	122004453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74337	122004453	19208978	10027	12173											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	415					0	0	1	0	0	T	123206003	C	T	123206003	3	4	22	1	0	0	0	0	1	0	0	0	3168	797	28	2	2702	2	CDK5RAP2	9	123206003	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1201550	123206003	18007428	10028	12174											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	192					0	0	1	0	0	G	123253655	T	G	123253655	3	3	22	1	0	0	0	0	1	0	0	0	3168	1841	64	3	4373	3	CDK5RAP2	9	123253655	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47652	123253655	17959776	10029	12175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	170					0	0	1	0	0	A	123384921	G	A	123384921	3	1	22	1	0	0	0	0	1	0	0	0	9514	1057	37	1	908	1	MEGF9	9	123384921	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131266	123384921	17828510	10030	12176											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123538497G>A	ENST00000373926.3	-	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	231					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						TGTAGTCCACGCTAAATACTA	0.378													35	416					0	0	1	0	0	A	123538497	G	A	123538497	2	1	22	1	0	0	0	0	0	0	0	1	5799	1078	38	1		1	FBXW2	9	123538497	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153576	123538497	17674934	10031	12177											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	194					0	0	1	0	0	A	123751958	G	A	123751958	2	1	22	1	0	0	0	0	0	0	0	1	2295	1078	38	1		1	C5	9	123751958	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	213461	123751958	17461473	10032	12178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	485					0	0	1	0	0	A	123753544	G	A	123753544	4	1	22	1	0	0	0	0	0	1	0	0	2295	1153	40	1	2240	1	C5	9	123753544	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1586	123753544	17459887	10033	12179											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436847.1_Missense_Mutation_p.A395T|GSN_ENST00000341272.2_Missense_Mutation_p.A384T|GSN_ENST00000394353.2_Missense_Mutation_p.A395T|GSN_ENST00000449733.1_Missense_Mutation_p.A384T|GSN_ENST00000373808.2_Missense_Mutation_p.A384T|GSN_ENST00000412819.1_Missense_Mutation_p.A384T|GSN_ENST00000373818.4_Missense_Mutation_p.A435T|GSN_ENST00000373807.1_Missense_Mutation_p.A166T|GSN_ENST00000545652.1_Missense_Mutation_p.A392T			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													98	363					0	0	1	0	0	A	124081117	G	A	124081117	3	1	22	1	0	0	0	0	1	0	0	0	6866	1087	38	1	1365	1	GSN	9	124081117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	327573	124081117	17132314	10034	12180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436847.1_Silent_p.G606G|GSN_ENST00000341272.2_Silent_p.G595G|GSN_ENST00000394353.2_Silent_p.G606G|GSN_ENST00000449733.1_Silent_p.G595G|GSN_ENST00000373808.2_Silent_p.G595G|GSN_ENST00000412819.1_Silent_p.G595G|GSN_ENST00000373818.4_Silent_p.G646G|GSN_ENST00000373806.1_Silent_p.G71G|GSN_ENST00000373807.1_Silent_p.G377G|GSN_ENST00000545652.1_Silent_p.G603G			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													14	232					0	0	1	0	0	T	124091191	C	T	124091191	2	4	22	1	0	0	0	0	0	0	0	1	6866	755	27	1		1	GSN	9	124091191	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10074	124091191	17122240	10035	12181											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000347359.2_Intron|STOM_ENST00000538954.1_Silent_p.S66S	NM_004099.4	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													43	234					0	0	1	0	0	A	124111572	G	A	124111572	2	1	22	1	0	0	0	0	0	0	0	1	15368	1078	38	1		1	STOM	9	124111572	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20381	124111572	17101859	10036	12182											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000309989.1_Silent_p.G196G|DAB2IP_ENST00000259371.2_Silent_p.G292G			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													38	212					0	0	1	0	0	T	124522508	C	T	124522508	2	4	22	1	0	0	0	0	0	0	0	1	4243	755	27	1		1	DAB2IP	9	124522508	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	410936	124522508	16690923	10037	12183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_Missense_Mutation_p.R359H	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													112	543					0	0	1	0	0	T	124751937	C	T	124751937	3	4	22	1	0	0	0	0	1	0	0	0	16786	768	27	1	1428	1	TTLL11	9	124751937	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	229429	124751937	16461494	10038	12184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	162					0	0	1	0	0	A	124914656	G	A	124914656	3	1	22	1	0	0	0	0	1	0	0	0	10318	1087	38	1	447	1	NDUFA8	9	124914656	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	162719	124914656	16298775	10039	12185											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373755.2_Silent_p.R148R|LHX6_ENST00000340587.3_Silent_p.R177R|LHX6_ENST00000559895.1_5'UTR|LHX6_ENST00000373754.2_Silent_p.R148R|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													69	321					0	0	1	0	0	A	124979498	G	A	124979498	2	1	22	1	0	0	0	0	0	0	0	1	8815	1074	38	1		1	LHX6	9	124979498	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64842	124979498	16233933	10040	12186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000373698.5_Missense_Mutation_p.R266H|PTGS1_ENST00000540753.1_Missense_Mutation_p.R350H	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|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													39	984					0	0	1	0	0	A	125148839	G	A	125148839	3	1	22	1	0	0	0	0	1	0	0	0	12805	1087	38	1	1158	1	PTGS1	9	125148839	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169341	125148839	16064592	10041	12187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	639					1.39691e-52	1.73782e-52	1	1	0	A	125273896	C	A	125273896	2	1	22	1	0	0	0	0	0	0	0	1	11008	813	29	2		2	OR1J2	9	125273896	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125057	125273896	15939535	10042	12188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	496					0	0	1	0	0	A	125316257	G	A	125316257	3	1	22	1	0	0	0	0	1	0	0	0	11018	1232	43	2	811	2	OR1N2	9	125316257	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42361	125316257	15897174	10043	12189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	495					4.05997e-52	5.04755e-52	1	1	0	T	125329904	G	T	125329904	3	4	22	1	0	0	0	0	1	0	0	0	11015	971	34	2	80	2	OR1L8	9	125329904	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13647	125329904	15883527	10044	12190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													133	672					0	0	1	0	0	G	125377105	T	G	125377105	3	3	22	1	0	0	0	0	1	0	0	0	11019	1725	60	3	91	3	OR1Q1	9	125377105	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47201	125377105	15836326	10045	12191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	272					0	0	1	0	0	A	125423951	G	A	125423951	3	1	22	1	0	0	0	0	1	0	0	0	11011	957	33	2		2	OR1L1	9	125423951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46846	125423951	15789480	10046	12192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													153	658					0	0	1	0	0	A	125486321	T	A	125486321	3	1	22	1	0	0	0	0	1	0	0	0	11013	1551	54	5	55	5	OR1L4	9	125486321	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	62370	125486321	15727110	10047	12193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													176	804					0	0	1	0	0	C	125486692	T	C	125486692	3	2	22	1	0	0	0	0	1	0	0	0	11013	1812	63	3	426	3	OR1L4	9	125486692	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	371	125486692	15726739	10048	12194											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	799					1.30998e-17	1.44773e-17	1	1	0	A	125512172	C	A	125512172	3	1	22	1	0	0	0	0	1	0	0	0	11014	680	24	2	48	2	OR1L6	9	125512172	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25480	125512172	15701259	10049	12195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	482					0	0	1	0	0	A	125512484	G	A	125512484	3	1	22	1	0	0	0	0	1	0	0	0	11014	1203	42	2	360	2	OR1L6	9	125512484	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	312	125512484	15700947	10050	12196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	249					0	0	1	0	0	G	125513037	A	G	125513037	3	3	22	1	0	0	0	0	1	0	0	0	11014	14	1	3	913	3	OR1L6	9	125513037	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	553	125513037	15700394	10051	12197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													129	576					0	0	1	0	0	T	125551396	C	T	125551396	3	4	22	1	0	0	0	0	1	0	0	0	11200	681	24	2	187	2	OR5C1	9	125551396	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38359	125551396	15662035	10052	12198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	328					0	0	1	0	0	T	125563013	C	T	125563013	2	4	22	1	0	0	0	0	0	0	0	1	11010	755	27	1		1	OR1K1	9	125563013	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11617	125563013	15650418	10053	12199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													151	720					2.05974e-71	2.61908e-71	1	1	0	T	125585390	G	T	125585390	3	4	22	1	0	0	0	0	1	0	0	0	11673	962	34	2	654	2	PDCL	9	125585390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22377	125585390	15628041	10054	12200											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373665.2_Silent_p.F463F|RC3H2_ENST00000423239.2_Missense_Mutation_p.P491S|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													62	350					0	0	1	0	0	A	125627791	G	A	125627791	3	1	22	1	0	0	0	0	1	0	0	0	13219	1174	41	2	2230	2	RC3H2	9	125627791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42401	125627791	15585640	10055	12201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000471874.2_Missense_Mutation_p.R150I|RC3H2_ENST00000335387.5_Missense_Mutation_p.R150I|RC3H2_ENST00000373665.2_Missense_Mutation_p.R150I|RC3H2_ENST00000478216.1_5'UTR|RC3H2_ENST00000423239.2_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													79	281					1.10181e-30	1.29357e-30	1	1	0	A	125652725	C	A	125652725	3	1	22	1	0	0	0	0	1	0	0	0	13219	913	32	2	3276	2	RC3H2	9	125652725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24934	125652725	15560706	10056	12202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000471874.2_Silent_p.C50C|RC3H2_ENST00000335387.5_Silent_p.C50C|RC3H2_ENST00000373665.2_Silent_p.C50C|RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000423239.2_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													28	205					0	0	1	0	0	G	125659639	A	G	125659639	2	3	22	1	0	0	0	0	0	0	0	1	13219	273	10	3		3	RC3H2	9	125659639	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6914	125659639	15553792	10057	12203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000471874.2_Missense_Mutation_p.D22N|RC3H2_ENST00000335387.5_Missense_Mutation_p.D22N|RC3H2_ENST00000373665.2_Missense_Mutation_p.D22N|RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000423239.2_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													19	124					0	0	1	0	0	T	125659725	C	T	125659725	3	4	22	1	0	0	0	0	1	0	0	0	13219	826	29	2	3669	2	RC3H2	9	125659725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86	125659725	15553706	10058	12204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	484					0	0	1	0	0	G	125681859	A	G	125681859	3	3	22	1	0	0	0	0	1	0	0	0	17592	159	6	3	974	3	ZBTB26	9	125681859	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22134	125681859	15531572	10059	12205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	203					0	0	1	0	0	T	125746835	C	T	125746835	2	4	22	1	0	0	0	0	0	0	0	1	13016	535	19	1		1	RABGAP1	9	125746835	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64976	125746835	15466596	10060	12206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	289					5.4927e-09	5.7613e-09	1	1	0	A	125758828	C	A	125758828	3	1	22	1	0	0	0	0	1	0	0	0	13016	913	32	2	1071	2	RABGAP1	9	125758828	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11993	125758828	15454603	10061	12207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373647.4_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_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													136	564					0	0	1	0	0	A	125797524	G	A	125797524	3	1	22	1	0	0	0	0	1	0	0	0	6721	1059	37	1	681	1	GPR21	9	125797524	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38696	125797524	15415907	10062	12208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	165					1.30998e-17	1.44773e-17	1	1	0	A	125863974	C	A	125863974	3	1	22	1	0	0	0	0	1	0	0	0	13016	796	28	2	3113	2	RABGAP1	9	125863974	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66450	125863974	15349457	10063	12209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	247					0	0	1	0	0	A	126132468	G	A	126132468	3	1	22	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	10064	12210											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	164					8.73648e-17	9.61379e-17	1	1	0	T	126132762	G	T	126132762	3	4	22	1	0	0	0	0	1	0	0	0	3872	1087	38	4	1456	4	CRB2	9	126132762	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294	126132762	15080669	10065	12211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	315					0	0	1	0	0	A	126132862	G	A	126132862	2	1	22	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	10066	12212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394215.2_Silent_p.G465G|DENND1A_ENST00000394219.3_Silent_p.G463G|DENND1A_ENST00000373618.1_Silent_p.G463G|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Silent_p.G237G|DENND1A_ENST00000373620.3_Silent_p.G495G	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													37	190					0	0	1	0	0	C	126202642	T	C	126202642	2	2	22	1	0	0	0	0	0	0	0	1	4454	1654	58	3		3	DENND1A	9	126202642	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	69780	126202642	15010789	10067	12213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394215.2_Nonsense_Mutation_p.R341*|DENND1A_ENST00000394219.3_Nonsense_Mutation_p.R339*|DENND1A_ENST00000373618.1_Nonsense_Mutation_p.R339*|DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000542603.1_Nonsense_Mutation_p.R113*|DENND1A_ENST00000373620.3_Nonsense_Mutation_p.R371*	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													10	477					0	0	1	0	0	A	126219702	G	A	126219702	4	1	22	1	0	0	0	0	0	1	0	0	4454	1066	37	1	2057	1	DENND1A	9	126219702	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17060	126219702	14993729	10068	12214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	43	155					0	0	1	0	0	T	127177699	C	T	127177699	2	4	22	1	0	0	0	0	0	0	0	1	12731	639	23	1		1	PSMB7	9	127177699	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	957997	127177699	14035732	10069	12215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	188					0	0	1	0	0	A	127262888	G	A	127262888	2	1	22	1	0	0	0	0	0	0	0	1	10683	958	34	2		2	NR5A1	9	127262888	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85189	127262888	13950543	10070	12216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344523.4_Nonsense_Mutation_p.E132*|NR6A1_ENST00000416460.2_Nonsense_Mutation_p.E128*|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													32	143					6.70999e-13	7.22283e-13	1	1	0	A	127306128	C	A	127306128	4	1	22	1	0	0	0	0	0	1	0	0	10685	922	32	2	1076	2	NR6A1	9	127306128	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43240	127306128	13907303	10071	12217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													138	642					6.46734e-63	8.15608e-63	1	1	0	T	127549269	G	T	127549269	3	4	22	1	0	0	0	0	1	0	0	0	10905	1174	41	2	112	2	OLFML2A	9	127549269	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	243141	127549269	13664162	10072	12218											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	334					6.00099e-30	7.02477e-30	1	1	0	A	127572492	C	A	127572492	3	1	22	1	0	0	0	0	1	0	0	0	10905	739	26	2	1790	2	OLFML2A	9	127572492	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23223	127572492	13640939	10073	12219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	301					0	0	1	0	0	T	127572610	C	T	127572610	2	4	22	1	0	0	0	0	0	0	0	1	10905	874	31	1		1	OLFML2A	9	127572610	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118	127572610	13640821	10074	12220											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	258					0	0	1	0	0	A	127620235	G	A	127620235	3	1	22	1	0	0	0	0	1	0	0	0	13636	1086	38	1	41	1	RPL35	9	127620235	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47625	127620235	13593196	10075	12221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000465124.1_3'UTR|ARPC5L_ENST00000259477.6_Missense_Mutation_p.G139R			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													49	203					0	0	1	0	0	A	127639172	G	A	127639172	3	1	22	1	0	0	0	0	1	0	0	0	974	1001	35	2	429	2	ARPC5L	9	127639172	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18937	127639172	13574259	10076	12222											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127791943C>T	ENST00000336505.5	-	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	102	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													30	130					0	0	1	0	0	T	127791943	C	T	127791943	4	4	22	1	0	0	0	0	0	1	0	0	13922	856	30	2	1574	2	SCAI	9	127791943	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152771	127791943	13421488	10077	12223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373546.3_Missense_Mutation_p.N113T|PPP6C_ENST00000373547.4_Missense_Mutation_p.N260T|PPP6C_ENST00000415905.1_Missense_Mutation_p.N238T	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													38	191					0	0	1	0	0	G	127912091	T	G	127912091	3	3	22	1	0	0	0	0	1	0	0	0	12456	1493	52	3	142	3	PPP6C	9	127912091	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	120148	127912091	13301340	10078	12224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	172					0	0	1	0	0	C	127990330	T	C	127990330	3	2	22	1	0	0	0	0	1	0	0	0	13015	1493	52	3	686	3	RABEPK	9	127990330	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	78239	127990330	13223101	10079	12225											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			64	370					0	0	1	0	0	T	128000926	C	T	128000926	3	4	22	1	0	0	0	0	1	0	0	0	7457	797	28	2	799	2	HSPA5	9	128000926	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10596	128000926	13212505	10080	12226											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			55	281					2.01807e-28	2.34828e-28	1	1	0	A	128001387	C	A	128001387	3	1	22	1	0	0	0	0	1	0	0	0	7457	913	32	2	1151	2	HSPA5	9	128001387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	461	128001387	13212044	10081	12227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			25	205					0	0	1	0	0	T	128001525	C	T	128001525	3	4	22	1	0	0	0	0	1	0	0	0	7457	884	31	1	1289	1	HSPA5	9	128001525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138	128001525	13211906	10082	12228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394105.2_Missense_Mutation_p.R948H|GAPVD1_ENST00000312123.9_Missense_Mutation_p.R900H|GAPVD1_ENST00000495955.1_Missense_Mutation_p.R921H|GAPVD1_ENST00000394104.2_Missense_Mutation_p.R921H|GAPVD1_ENST00000297933.6_Missense_Mutation_p.R921H|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R900H|GAPVD1_ENST00000265956.4_Missense_Mutation_p.R895H			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													8	340					0	0	1	0	0	A	128099755	G	A	128099755	3	1	22	1	0	0	0	0	1	0	0	0	6279	1145	40	1	2901	1	GAPVD1	9	128099755	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98230	128099755	13113676	10083	12229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394105.2_Nonsense_Mutation_p.R954*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.R906*|GAPVD1_ENST00000495955.1_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.R906*|GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.R901*			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													51	272					0	0	1	0	0	T	128099772	C	T	128099772	4	4	22	1	0	0	0	0	0	1	0	0	6279	760	27	1	2918	1	GAPVD1	9	128099772	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17	128099772	13113659	10084	12230											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394105.2_Nonsense_Mutation_p.G985*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.G937*|GAPVD1_ENST00000495955.1_Nonsense_Mutation_p.G958*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.G958*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.G958*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.G937*|GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.G932*			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													41	230					2.77807e-22	3.14147e-22	1	1	0	T	128099865	G	T	128099865	4	4	22	1	0	0	0	0	0	1	0	0	6279	1001	35	2	3011	2	GAPVD1	9	128099865	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93	128099865	13113566	10085	12231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128104578G>T	ENST00000394104.2	+	17	3206	c.3046_splice	c.e17+1	p.D1016_splice	GAPVD1_ENST00000470056.1_Intron|GAPVD1_ENST00000394105.2_Splice_Site_p.D1043_splice|GAPVD1_ENST00000312123.9_Splice_Site_p.D995_splice|GAPVD1_ENST00000495955.1_Splice_Site_p.D1016_splice|GAPVD1_ENST00000297933.6_Splice_Site_p.D1016_splice|GAPVD1_ENST00000394083.2_Intron|GAPVD1_ENST00000265956.4_Splice_Site_p.D990_splice			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													16	428					2.31682e-05	2.36778e-05	1	1	0	T	128104578	G	T	128104578	5	4	22	1	0	0	0	0	0	0	1	0	6279	1014	35	2	3193	2	GAPVD1	9	128104578	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4713	128104578	13108853	10086	12232											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394105.2_Missense_Mutation_p.D1484N|GAPVD1_ENST00000312123.9_Missense_Mutation_p.D1436N|GAPVD1_ENST00000495955.1_Missense_Mutation_p.D1475N|GAPVD1_ENST00000394104.2_Missense_Mutation_p.D1475N|GAPVD1_ENST00000297933.6_Missense_Mutation_p.D1457N|GAPVD1_ENST00000394083.2_Missense_Mutation_p.D1409N|GAPVD1_ENST00000265956.4_Missense_Mutation_p.D1449N			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													53	226					0	0	1	0	0	A	128125011	G	A	128125011	3	1	22	1	0	0	0	0	1	0	0	0	6279	1058	37	1	4552	1	GAPVD1	9	128125011	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20433	128125011	13088420	10087	12233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447726.2_Silent_p.I222I|PBX3_ENST00000342287.5_Silent_p.I297I|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373483.2_Silent_p.I116I|PBX3_ENST00000373489.5_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													53	167					0	0	1	0	0	A	128723010	T	A	128723010	2	1	22	1	0	0	0	0	0	0	0	1	11541	1800	63	5		5	PBX3	9	128723010	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	597999	128723010	12490421	10088	12234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447726.2_Missense_Mutation_p.G318E|PBX3_ENST00000342287.5_3'UTR|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373483.2_Missense_Mutation_p.G212E|PBX3_ENST00000373489.5_Missense_Mutation_p.G393E			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													12	96					0	0	1	0	0	A	128725346	G	A	128725346	3	1	22	1	0	0	0	0	1	0	0	0	11541	1174	41	2	1208	2	PBX3	9	128725346	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2336	128725346	12488085	10089	12235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373474.4_Missense_Mutation_p.R217W|LMX1B_ENST00000526117.1_Missense_Mutation_p.R217W|LMX1B_ENST00000425646.2_Missense_Mutation_p.R194W|LMX1B_ENST00000561065.1_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				7	78					0	0	1	0	0	T	129455510	C	T	129455510	3	4	22	1	0	0	0	0	1	0	0	0	8903	759	27	1	663	1	LMX1B	9	129455510	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	730164	129455510	11757921	10090	12236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373474.4_Missense_Mutation_p.L373F|LMX1B_ENST00000526117.1_Missense_Mutation_p.L366F|LMX1B_ENST00000425646.2_Missense_Mutation_p.L343F|LMX1B_ENST00000561065.1_Missense_Mutation_p.L354F	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				209	817					0	0	1	0	0	T	129458638	C	T	129458638	3	4	22	1	0	0	0	0	1	0	0	0	8903	681	24	2	1180	2	LMX1B	9	129458638	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3128	129458638	11754793	10091	12237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373474.4_Silent_p.D377D|LMX1B_ENST00000526117.1_Silent_p.D370D|LMX1B_ENST00000425646.2_Silent_p.D347D|LMX1B_ENST00000561065.1_Silent_p.D358D	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				35	1016					0	0	1	0	0	T	129458652	C	T	129458652	2	4	22	1	0	0	0	0	0	0	0	1	8903	535	19	1		1	LMX1B	9	129458652	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14	129458652	11754779	10092	12238											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	437					0	0	1	0	0	T	129642452	C	T	129642452	2	4	22	1	0	0	0	0	0	0	0	1	17596	535	19	1		1	ZBTB34	9	129642452	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	183800	129642452	11570979	10093	12239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394022.3_Missense_Mutation_p.M178L|RALGPS1_ENST00000424082.2_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													66	242					0	0	1	0	0	C	129831557	A	C	129831557	3	2	22	1	0	0	0	0	1	0	0	0	13069	333	12	3	558	3	RALGPS1	9	129831557	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	189105	129831557	11381874	10094	12240											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	388					0	0	1	0	0	T	129958828	C	T	129958828	2	4	22	1	0	0	0	0	0	0	0	1	13069	535	19	1		1	RALGPS1	9	129958828	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127271	129958828	11254603	10095	12241											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	15	608					0	0	1	0	0	A	129961313	G	A	129961313	2	1	22	1	0	0	0	0	0	0	0	1	13069	1020	36	2		2	RALGPS1	9	129961313	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2485	129961313	11252118	10096	12242											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	280					0	0	1	0	0	A	129975289	G	A	129975289	3	1	22	1	0	0	0	0	1	0	0	0	13069	1059	37	1	1575	1	RALGPS1	9	129975289	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13976	129975289	11238142	10097	12243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	303					0	0	1	0	0	A	130167730	G	A	130167730	4	1	22	1	0	0	0	0	0	1	0	0	14606	1212	42	2	1216	2	SLC2A8	9	130167730	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192441	130167730	11045701	10098	12244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	689					0	0	1	0	0	T	130169397	C	T	130169397	3	4	22	1	0	0	0	0	1	0	0	0	14606	681	24	2	1341	2	SLC2A8	9	130169397	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1667	130169397	11044034	10099	12245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	418					2.18481e-45	2.67909e-45	1	1	0	T	130206888	G	T	130206888	3	4	22	1	0	0	0	0	1	0	0	0	18210	962	34	2	927	2	ZNF79	9	130206888	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37491	130206888	11006543	10100	12246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373322.1_Missense_Mutation_p.A184D|LRSAM1_ENST00000373324.4_Missense_Mutation_p.A184D|LRSAM1_ENST00000300417.6_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													26	66					3.00307e-07	3.1154e-07	1	1	0	A	130230041	C	A	130230041	3	1	22	1	0	0	0	0	1	0	0	0	9088	739	26	2	581	2	LRSAM1	9	130230041	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23153	130230041	10983390	10101	12247											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373322.1_Missense_Mutation_p.A451V|LRSAM1_ENST00000373324.4_Missense_Mutation_p.A451V|LRSAM1_ENST00000300417.6_Missense_Mutation_p.A451V|LRSAM1_ENST00000483302.1_3'UTR	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													10	55					0	0	1	0	0	T	130251727	C	T	130251727	3	4	22	1	0	0	0	0	1	0	0	0	9088	768	27	1	1418	1	LRSAM1	9	130251727	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21686	130251727	10961704	10102	12248											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373322.1_Silent_p.F457F|LRSAM1_ENST00000373324.4_Silent_p.F457F|LRSAM1_ENST00000300417.6_Silent_p.F457F|LRSAM1_ENST00000483302.1_3'UTR	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													12	69					0	0	1	0	0	T	130251746	C	T	130251746	2	4	22	1	0	0	0	0	0	0	0	1	9088	883	31	1		1	LRSAM1	9	130251746	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	130251746	10961685	10103	12249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	59					0	0	1	0	0	T	130269379	C	T	130269379	2	4	22	1	0	0	0	0	0	0	0	1	5468	726	26	2		2	FAM129B	9	130269379	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17633	130269379	10944052	10104	12250	77	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	60					0	0	1	0	0	T	130269380	C	T	130269380	3	4	22	1	0	0	0	0	1	0	0	0	5468	652	23	1	259	1	FAM129B	9	130269380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1	130269380	10944051	10105	12251	77	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	111					0	0	1	0	0	A	130269465	G	A	130269465	3	1	22	1	0	0	0	0	1	0	0	0	5468	1203	42	2	344	2	FAM129B	9	130269465	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85	130269465	10943966	10106	12252											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	424					0	0	1	0	0	T	130270389	C	T	130270389	3	4	22	1	0	0	0	0	1	0	0	0	5468	739	26	2	727	2	FAM129B	9	130270389	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	924	130270389	10943042	10107	12253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	372					0	0	1	0	0	T	130270429	C	T	130270429	2	4	22	1	0	0	0	0	0	0	0	1	5468	755	27	1		1	FAM129B	9	130270429	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40	130270429	10943002	10108	12254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	687					0	0	1	0	0	T	130425503	C	T	130425503	3	4	22	1	0	0	0	0	1	0	0	0	15408	797	28	2	475	2	STXBP1	9	130425503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155074	130425503	10787928	10109	12255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	440					0	0	1	0	0	T	130425614	C	T	130425614	3	4	22	1	0	0	0	0	1	0	0	0	15408	652	23	1	586	1	STXBP1	9	130425614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111	130425614	10787817	10110	12256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	217					0	0	1	0	0	T	130430387	C	T	130430387	3	4	22	1	0	0	0	0	1	0	0	0	15408	527	19	1	861	1	STXBP1	9	130430387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4773	130430387	10783044	10111	12257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	37					0	0	1	0	0	T	130474155	C	T	130474155	2	4	22	1	0	0	0	0	0	0	0	1	2469	639	23	1		1	C9orf117	9	130474155	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43768	130474155	10739276	10112	12258											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	80					6.94344e-10	7.33246e-10	1	1	0	A	130477948	C	A	130477948	1	1	22	1	0	0	0	0	0	0	0	0	12868	696	24	2		2	PTRH1	9	130477948	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3793	130477948	10735483	10113	12259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	73					0	0	1	0	0	T	130477960	C	T	130477960	1	4	22	1	0	0	0	0	0	0	0	0	12868	522	18	2		2	PTRH1	9	130477960	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12	130477960	10735471	10114	12260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|TTC16_ENST00000393748.4_Intron|PTRH1_ENST00000429848.1_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													54	211					3.31993e-32	3.91856e-32	1	1	0	A	130479252	C	A	130479252	3	1	22	1	0	0	0	0	1	0	0	0	16745	507	18	2	154	2	TTC16	9	130479252	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1292	130479252	10734179	10115	12261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|TTC16_ENST00000393748.4_Missense_Mutation_p.A82V|TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000429848.1_Intron	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													44	233					0	0	1	0	0	T	130485513	C	T	130485513	3	4	22	1	0	0	0	0	1	0	0	0	16745	768	27	1	799	1	TTC16	9	130485513	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6261	130485513	10727918	10116	12262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420366.1_Missense_Mutation_p.L693M|SH2D3C_ENST00000373274.3_Missense_Mutation_p.L691M|SH2D3C_ENST00000373277.4_Missense_Mutation_p.L694M|SH2D3C_ENST00000429553.1_Missense_Mutation_p.L497M|SH2D3C_ENST00000373276.3_Missense_Mutation_p.L783M	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													12	45					7.93312e-07	8.20014e-07	1	1	0	T	130501057	G	T	130501057	3	4	22	1	0	0	0	0	1	0	0	0	14288	962	34	2	35	2	SH2D3C	9	130501057	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15544	130501057	10712374	10117	12263											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420366.1_Silent_p.E128E|SH2D3C_ENST00000373274.3_Silent_p.E126E|SH2D3C_ENST00000373277.4_Silent_p.E129E|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000373276.3_Silent_p.E218E	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													37	154					0	0	1	0	0	T	130511771	C	T	130511771	2	4	22	1	0	0	0	0	0	0	0	1	14288	796	28	2		2	SH2D3C	9	130511771	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10714	130511771	10701660	10118	12264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	280					7.03913e-09	7.37812e-09	1	1	0	A	130536596	C	A	130536596	3	1	22	1	0	0	0	0	1	0	0	0	14288	565	20	2	2571	2	SH2D3C	9	130536596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24825	130536596	10676835	10119	12265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	264					0	0	1	0	0	T	130551610	C	T	130551610	3	4	22	1	0	0	0	0	1	0	0	0	3173	768	27	1	933	1	CDK9	9	130551610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15014	130551610	10661821	10120	12266											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373247.2_Missense_Mutation_p.A512T|FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000393706.2_Missense_Mutation_p.A486T|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													105	433					0	0	1	0	0	A	130575653	G	A	130575653	3	1	22	1	0	0	0	0	1	0	0	0	6070	1319	46	2	1592	2	FPGS	9	130575653	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24043	130575653	10637778	10121	12267											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373247.2_Missense_Mutation_p.T568I|FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000393706.2_Missense_Mutation_p.T542I|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													60	276					0	0	1	0	0	T	130575822	C	T	130575822	3	4	22	1	0	0	0	0	1	0	0	0	6070	565	20	2	1761	2	FPGS	9	130575822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169	130575822	10637609	10122	12268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|ENG_ENST00000480266.1_Intron|ENG_ENST00000373203.4_Silent_p.A425A|RP11-228B15.4_ENST00000425991.1_RNA			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				24	60					0	0	1	0	0	T	130581937	C	T	130581937	2	4	22	1	0	0	0	0	0	0	0	1	5145	639	23	1		1	ENG	9	130581937	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6115	130581937	10631494	10123	12269											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000480266.1_5'UTR|ENG_ENST00000373203.4_Silent_p.Q270Q			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				31	162					0	0	1	0	0	T	130587516	C	T	130587516	2	4	22	1	0	0	0	0	0	0	0	1	5145	912	32	2		2	ENG	9	130587516	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5579	130587516	10625915	10124	12270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AK1_ENST00000373156.1_Silent_p.S45S|AK1_ENST00000223836.10_Silent_p.S61S|RP11-203J24.9_ENST00000476274.2_RNA	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													44	198					0	0	1	0	0	A	130635041	G	A	130635041	2	1	22	1	0	0	0	0	0	0	0	1	436	1103	39	1		1	AK1	9	130635041	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47525	130635041	10578390	10125	12271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000291839.5_Missense_Mutation_p.R134H|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.R134H|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.R100H|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.R100H|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000485320.1_5'UTR			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													22	237					0	0	1	0	0	T	130653219	C	T	130653219	3	4	22	1	0	0	0	0	1	0	0	0	15284	768	27	1	612	1	ST6GALNAC6	9	130653219	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18178	130653219	10560212	10126	12272											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000291839.5_Nonsense_Mutation_p.W86*|ST6GALNAC6_ENST00000373142.1_Nonsense_Mutation_p.W86*|ST6GALNAC6_ENST00000373141.1_Nonsense_Mutation_p.W52*|ST6GALNAC6_ENST00000373144.3_Nonsense_Mutation_p.W52*|ST6GALNAC6_ENST00000542456.1_Missense_Mutation_p.G22E|ST6GALNAC6_ENST00000485320.1_5'UTR			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													96	500					0	0	1	0	0	T	130656830	C	T	130656830	4	4	22	1	0	0	0	0	0	1	0	0	15284	856	30	2	759	2	ST6GALNAC6	9	130656830	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3611	130656830	10556601	10127	12273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	223					0	0	1	0	0	T	130674853	C	T	130674853	3	4	22	1	0	0	0	0	1	0	0	0	15282	768	27	1	615	1	ST6GALNAC4	9	130674853	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18023	130674853	10538578	10128	12274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	214					0	0	1	0	0	T	130687515	C	T	130687515	3	4	22	1	0	0	0	0	1	0	0	0	11990	768	27	1	404	1	PIP5KL1	9	130687515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12662	130687515	10525916	10129	12275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	414					0	0	1	0	0	T	130698902	C	T	130698902	2	4	22	1	0	0	0	0	0	0	0	1	4751	564	20	2		2	DPM2	9	130698902	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11387	130698902	10514529	10130	12276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	141					0	0	1	0	0	T	130707059	C	T	130707059	3	4	22	1	0	0	0	0	1	0	0	0	5413	893	31	1	130	1	FAM102A	9	130707059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8157	130707059	10506372	10131	12277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	342					0	0	1	0	0	A	130828911	G	A	130828911	3	1	22	1	0	0	0	0	1	0	0	0	10194	1232	43	2	521	2	NAIF1	9	130828911	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121852	130828911	10384520	10132	12278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	822					5.43694e-19	6.05247e-19	1	1	0	T	130829260	G	T	130829260	3	4	22	1	0	0	0	0	1	0	0	0	10194	991	35	2	870	2	NAIF1	9	130829260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	349	130829260	10384171	10133	12279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													151	838					0	0	1	0	0	G	130829277	A	G	130829277	3	3	22	1	0	0	0	0	1	0	0	0	10194	246	9	3	887	3	NAIF1	9	130829277	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17	130829277	10384154	10134	12280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130865959G>A	ENST00000373066.5	+	6	989		c.e6-1		SLC25A25_ENST00000373068.2_Splice_Site|SLC25A25_ENST00000432073.2_Splice_Site|SLC25A25_ENST00000433501.1_Splice_Site|SLC25A25_ENST00000373064.5_Splice_Site|SLC25A25_ENST00000373069.5_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													55	280					0	0	1	0	0	A	130865959	G	A	130865959	5	1	22	1	0	0	0	0	0	0	1	0	14543	956	33	2	992	2	SLC25A25	9	130865959	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36682	130865959	10347472	10135	12281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372954.1_Silent_p.I214I|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000541172.1_Silent_p.I137I|CIZ1_ENST00000393608.1_Silent_p.I238I|CIZ1_ENST00000372948.3_Silent_p.I238I|CIZ1_ENST00000325721.8_Silent_p.I209I|CIZ1_ENST00000277465.4_Silent_p.I238I|CIZ1_ENST00000357558.5_Silent_p.I238I|CIZ1_ENST00000372938.5_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													97	502					0	0	1	0	0	A	130942771	G	A	130942771	2	1	22	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	10136	12282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372954.1_Missense_Mutation_p.P128H|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000541172.1_Missense_Mutation_p.P51H|CIZ1_ENST00000393608.1_Missense_Mutation_p.P152H|CIZ1_ENST00000372948.3_Missense_Mutation_p.P152H|CIZ1_ENST00000325721.8_Missense_Mutation_p.P128H|CIZ1_ENST00000277465.4_Missense_Mutation_p.P152H|CIZ1_ENST00000357558.5_Missense_Mutation_p.P152H|CIZ1_ENST00000372938.5_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													47	233					1.41504e-22	1.60265e-22	1	1	0	T	130947959	G	T	130947959	3	4	22	1	0	0	0	0	1	0	0	0	3464	1232	43	2	2293	2	CIZ1	9	130947959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5188	130947959	10265472	10137	12283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475805.1_Missense_Mutation_p.D352N|DNM1_ENST00000393594.3_Missense_Mutation_p.D352N|DNM1_ENST00000372923.3_Missense_Mutation_p.D352N|DNM1_ENST00000486160.1_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													70	403					0	0	1	0	0	A	130984801	G	A	130984801	3	1	22	1	0	0	0	0	1	0	0	0	4697	1058	37	1	1084	1	DNM1	9	130984801	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36842	130984801	10228630	10138	12284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000493925.1_3'UTR|DNM1_ENST00000475805.1_Missense_Mutation_p.M580T|DNM1_ENST00000393594.3_Missense_Mutation_p.M580T|DNM1_ENST00000372923.3_Missense_Mutation_p.M580T|DNM1_ENST00000486160.1_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													68	266					0	0	1	0	0	C	131008740	T	C	131008740	3	2	22	1	0	0	0	0	1	0	0	0	4697	1464	51	3	1796	3	DNM1	9	131008740	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	23939	131008740	10204691	10139	12285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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		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													113	429					1.22879e-52	1.5289e-52	1	1	0	A	131022956	C	A	131022956	3	1	22	1	0	0	0	0	1	0	0	0	6594	913	32	2	1583	2	GOLGA2	9	131022956	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14216	131022956	10190475	10140	12286											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131107479C>T	ENST00000300456.3	+	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	69					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													33	207					0	0	1	0	0	T	131107479	C	T	131107479	2	4	22	1	0	0	0	0	0	0	0	1	14583	747	26	2		2	SLC27A4	9	131107479	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84523	131107479	10105952	10141	12287											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131107824C>A	ENST00000300456.3	+	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	184					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													15	69					3.27435e-08	3.41456e-08	1	1	0	A	131107824	C	A	131107824	2	1	22	1	0	0	0	0	0	0	0	1	14583	668	24	2		2	SLC27A4	9	131107824	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	345	131107824	10105607	10142	12288											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131110845G>A	ENST00000300456.3	+	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	193					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													86	359					0	0	1	0	0	A	131110845	G	A	131110845	3	1	22	1	0	0	0	0	1	0	0	0	14583	971	34	2	588	2	SLC27A4	9	131110845	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3021	131110845	10102586	10143	12289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	120					0	0	1	0	0	A	131198036	G	A	131198036	3	1	22	1	0	0	0	0	1	0	0	0	3288	1029	36	2	1686	2	CERCAM	9	131198036	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87191	131198036	10015395	10144	12290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131222946G>A	ENST00000303890.5	+	5	693		c.e5+1		ODF2_ENST00000535026.1_Splice_Site|ODF2_ENST00000372807.5_Splice_Site|ODF2_ENST00000448249.3_Splice_Site|ODF2_ENST00000372796.4_Intron|ODF2_ENST00000546203.1_Intron|ODF2_ENST00000372791.3_Intron|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000351030.3_Splice_Site|ODF2_ENST00000434106.2_Intron|ODF2_ENST00000372814.3_Intron|ODF2_ENST00000444119.2_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													47	157					0	0	1	0	0	A	131222946	G	A	131222946	5	1	22	1	0	0	0	0	0	0	1	0	10875	1275	44	2	242	2	ODF2	9	131222946	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24910	131222946	9990485	10145	12291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131243904C>T	ENST00000303890.5	+	11	1402	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L	ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000372807.5_Silent_p.L292L|ODF2_ENST00000448249.3_Silent_p.L216L|ODF2_ENST00000372796.4_Silent_p.L297L|ODF2_ENST00000546203.1_Silent_p.L278L|ODF2_ENST00000372791.3_Silent_p.L278L|ODF2_ENST00000393533.2_Silent_p.L297L|ODF2_ENST00000351030.3_Silent_p.L292L|ODF2_ENST00000434106.2_Silent_p.L297L|ODF2_ENST00000372814.3_Silent_p.L341L|ODF2_ENST00000444119.2_Silent_p.L273L	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	297					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													31	200					0	0	1	0	0	T	131243904	C	T	131243904	2	4	22	1	0	0	0	0	0	0	0	1	10875	796	28	2		2	ODF2	9	131243904	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20958	131243904	9969527	10146	12292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131254790G>A	ENST00000303890.5	+	17	2135	c.1550G>A	c.(1549-1551)gGg>gAg	p.G517E	ODF2_ENST00000372807.5_Missense_Mutation_p.G536E|ODF2_ENST00000448249.3_Missense_Mutation_p.G460E|ODF2_ENST00000372796.4_Missense_Mutation_p.G541E|ODF2_ENST00000546203.1_Missense_Mutation_p.G522E|ODF2_ENST00000372791.3_Missense_Mutation_p.G522E|ODF2_ENST00000393533.2_Missense_Mutation_p.G541E|ODF2_ENST00000351030.3_Missense_Mutation_p.G536E|ODF2_ENST00000434106.2_Missense_Mutation_p.G541E|ODF2_ENST00000372814.3_Missense_Mutation_p.G585E|ODF2_ENST00000444119.2_Missense_Mutation_p.G517E	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	541					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													36	184					0	0	1	0	0	A	131254790	G	A	131254790	3	1	22	1	0	0	0	0	1	0	0	0	10875	1232	43	2	1731	2	ODF2	9	131254790	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10886	131254790	9958641	10147	12293											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131262527C>A	ENST00000303890.5	+	23	2996	c.2411C>A	c.(2410-2412)cCt>cAt	p.P804H	ODF2_ENST00000372807.5_Missense_Mutation_p.P823H|ODF2_ENST00000372796.4_Missense_Mutation_p.P828H|ODF2_ENST00000351030.3_Missense_Mutation_p.P823H|ODF2_ENST00000434106.2_Missense_Mutation_p.P828H|ODF2_ENST00000444119.2_Missense_Mutation_p.P804H	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	828					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													80	524					2.05912e-35	2.45818e-35	1	1	0	A	131262527	C	A	131262527	3	1	22	1	0	0	0	0	1	0	0	0	10875	681	24	2	2679	2	ODF2	9	131262527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7737	131262527	9950904	10148	12294											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	124					2.79863e-10	2.965e-10	1	1	0	A	131277836	C	A	131277836	3	1	22	1	0	0	0	0	1	0	0	0	6477	913	32	2	360	2	GLE1	9	131277836	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15309	131277836	9935595	10149	12295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	269					0	0	1	0	0	G	131298700	A	G	131298700	2	3	22	1	0	0	0	0	0	0	0	1	6477	175	7	3		3	GLE1	9	131298700	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20864	131298700	9914731	10150	12296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131329137C>T	ENST00000372739.3	+	2	228	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	SPTAN1_ENST00000372731.4_Silent_p.L40L|SPTAN1_ENST00000358161.5_Silent_p.L40L	NM_001130438.2	NP_001123910.1	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													10	501					0	0	1	0	0	T	131329137	C	T	131329137	2	4	22	1	0	0	0	0	0	0	0	1	15173	796	28	2		2	SPTAN1	9	131329137	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30437	131329137	9884294	10151	12297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131365846G>A	ENST00000372739.3	+	28	3714	c.3604G>A	c.(3604-3606)Gtg>Atg	p.V1202M	SPTAN1_ENST00000372731.4_Missense_Mutation_p.V1202M|SPTAN1_ENST00000358161.5_Missense_Mutation_p.V1202M	NM_001130438.2	NP_001123910.1	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													126	607					0	0	1	0	0	A	131365846	G	A	131365846	3	1	22	1	0	0	0	0	1	0	0	0	15173	1145	40	1	3710	1	SPTAN1	9	131365846	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36709	131365846	9847585	10152	12298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131369983G>A	ENST00000372739.3	+	32	4256		c.e32+1		SPTAN1_ENST00000372731.4_Splice_Site|SPTAN1_ENST00000358161.5_Splice_Site	NM_001130438.2	NP_001123910.1	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													24	580					0	0	1	0	0	A	131369983	G	A	131369983	5	1	22	1	0	0	0	0	0	0	1	0	15173	1275	44	2	4269	2	SPTAN1	9	131369983	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4137	131369983	9843448	10153	12299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	385					0.0692343	0.0693721	1	1	0	A	131396214	C	A	131396214	3	1	22	1	0	0	0	0	1	0	0	0	17348	565	20	2	194	2	WDR34	9	131396214	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26231	131396214	9817217	10154	12300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	108					0	0	1	0	0	T	131397074	C	T	131397074	3	4	22	1	0	0	0	0	1	0	0	0	17348	797	28	2	514	2	WDR34	9	131397074	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	860	131397074	9816357	10155	12301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	31	130					2.61193e-14	2.83483e-14	1	1	0	A	131397201	C	A	131397201	5	1	22	1	0	0	0	0	0	0	1	0	17348	811	28	2	641	2	WDR34	9	131397201	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127	131397201	9816230	10156	12302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372692.4_Missense_Mutation_p.I137L|SET_ENST00000477806.1_3'UTR|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								31	185					0	0	1	0	0	C	131455036	A	C	131455036	3	2	22	1	0	0	0	0	1	0	0	0	14182	101	4	3	500	3	SET	9	131455036	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	57835	131455036	9758395	10157	12303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	59					0	0	1	0	0	T	131467678	C	T	131467678	3	4	22	1	0	0	0	0	1	0	0	0	12029	759	27	1	127	1	PKN3	9	131467678	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12642	131467678	9745753	10158	12304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													146	832					2.67835e-44	3.27695e-44	1	1	0	A	131482694	C	A	131482694	3	1	22	1	0	0	0	0	1	0	0	0	12029	797	28	2	2565	2	PKN3	9	131482694	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15016	131482694	9730737	10159	12305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	22	82					1.2644e-06	1.30616e-06	1	1	0	A	131495800	C	A	131495800	3	1	22	1	0	0	0	0	1	0	0	0	17683	564	20	2	160	2	ZER1	9	131495800	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13106	131495800	9717631	10160	12306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	650					0	0	1	0	0	T	131591055	C	T	131591055	3	4	22	1	0	0	0	0	1	0	0	0	2467	768	27	1	1003	1	C9orf114	9	131591055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95255	131591055	9622376	10161	12307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372600.4_Silent_p.S151S|LRRC8A_ENST00000372599.3_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													39	241					0	0	1	0	0	A	131669896	G	A	131669896	2	1	22	1	0	0	0	0	0	0	0	1	9066	1045	37	1		1	LRRC8A	9	131669896	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78841	131669896	9543535	10162	12308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	384					0.000151284	0.000153739	1	1	0	T	131708326	G	T	131708326	2	4	22	1	0	0	0	0	0	0	0	1	4730	932	33	2		2	DOLK	9	131708326	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38430	131708326	9505105	10163	12309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													239	970					0	0	1	0	0	G	131708616	A	G	131708616	3	3	22	1	0	0	0	0	1	0	0	0	4730	275	10	3	653	3	DOLK	9	131708616	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	290	131708616	9504815	10164	12310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	260					0	0	1	0	0	A	131709434	G	A	131709434	3	1	22	1	0	0	0	0	1	0	0	0	4730	1319	46	2	1471	2	DOLK	9	131709434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	818	131709434	9503997	10165	12311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	444					0	0	1	0	0	T	131730896	C	T	131730896	3	4	22	1	0	0	0	0	1	0	0	0	10806	565	20	2	731	2	NUP188	9	131730896	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21462	131730896	9482535	10166	12312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	267					0	0	1	0	0	T	131749134	C	T	131749134	2	4	22	1	0	0	0	0	0	0	0	1	10806	535	19	1		1	NUP188	9	131749134	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18238	131749134	9464297	10167	12313											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	230					0	0	1	0	0	A	131755935	G	A	131755935	2	1	22	1	0	0	0	0	0	0	0	1	10806	991	35	2		2	NUP188	9	131755935	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6801	131755935	9457496	10168	12314	78	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	219					0	0	1	0	0	T	131755939	C	T	131755939	3	4	22	1	0	0	0	0	1	0	0	0	10806	875	31	1	3089	1	NUP188	9	131755939	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4	131755939	9457492	10169	12315	78	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	173					0	0	1	0	0	A	131761996	G	A	131761996	3	1	22	1	0	0	0	0	1	0	0	0	10806	1029	36	2	3889	2	NUP188	9	131761996	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6057	131761996	9451435	10170	12316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	246					0	0	1	0	0	A	131763821	G	A	131763821	3	1	22	1	0	0	0	0	1	0	0	0	10806	1203	42	2	3995	2	NUP188	9	131763821	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1825	131763821	9449610	10171	12317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	331					0	0	1	0	0	A	131830525	G	A	131830525	3	1	22	1	0	0	0	0	1	0	0	0	5652	1174	41	2	1364	2	FAM73B	9	131830525	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66704	131830525	9382906	10172	12318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393370.2_Silent_p.T321T|PPP2R4_ENST00000358994.4_Silent_p.T321T|PPP2R4_ENST00000435132.1_Silent_p.T59T|PPP2R4_ENST00000348141.5_Silent_p.T327T|PPP2R4_ENST00000357197.4_Silent_p.T292T|PPP2R4_ENST00000419582.1_Silent_p.T59T|PPP2R4_ENST00000434095.1_Silent_p.T59T|PPP2R4_ENST00000347048.4_Silent_p.T102T|PPP2R4_ENST00000432651.1_Silent_p.T59T|PPP2R4_ENST00000414510.1_Silent_p.T59T|PPP2R4_ENST00000423100.1_Silent_p.T59T|PPP2R4_ENST00000355007.3_Silent_p.T279T	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													7	240					0	0	1	0	0	A	131909734	G	A	131909734	2	1	22	1	0	0	0	0	0	0	0	1	12440	1132	40	1		1	PPP2R4	9	131909734	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79209	131909734	9303697	10173	12319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	46					1.05317e-09	1.11087e-09	1	1	0	A	131940297	C	A	131940297	3	1	22	1	0	0	0	0	1	0	0	0	7553	797	28	2	1183	2	IER5L	9	131940297	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30563	131940297	9273134	10174	12320											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	262					2.17126e-26	2.5019e-26	1	1	0	A	132375512	C	A	132375512	3	1	22	1	0	0	0	0	1	0	0	0	2505	680	24	2	241	2	C9orf50	9	132375512	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	435215	132375512	8837919	10175	12321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	224					0	0	1	0	0	A	132375527	G	A	132375527	2	1	22	1	0	0	0	0	0	0	0	1	2505	1335	47	2		2	C9orf50	9	132375527	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	132375527	8837904	10176	12322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	490					4.066e-59	5.10292e-59	1	1	0	T	132590482	G	T	132590482	3	4	22	1	0	0	0	0	1	0	0	0	2514	1020	36	2	45	2	C9orf78	9	132590482	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214955	132590482	8622949	10177	12323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358355.1_Silent_p.R434R|USP20_ENST00000372429.3_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													26	885					7.92952e-12	8.47903e-12	1	1	0	T	132631614	G	T	132631614	2	4	22	1	0	0	0	0	0	0	0	1	17112	1161	41	2		2	USP20	9	132631614	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41132	132631614	8581817	10178	12324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358355.1_Missense_Mutation_p.R889H|USP20_ENST00000372429.3_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													45	172					0	0	1	0	0	A	132642473	G	A	132642473	3	1	22	1	0	0	0	0	1	0	0	0	17112	1087	38	1	2756	1	USP20	9	132642473	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10859	132642473	8570958	10179	12325											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000347136.6_Silent_p.N200N|GPR107_ENST00000372410.3_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													87	421					0	0	1	0	0	C	132848734	T	C	132848734	2	2	22	1	0	0	0	0	0	0	0	1	6663	1461	51	3		3	GPR107	9	132848734	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	206261	132848734	8364697	10180	12326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	34	139					0	0	1	0	0	A	133501820	G	A	133501820	3	1	22	1	0	0	0	0	1	0	0	0	6128	1233	43	2	1091	2	FUBP3	9	133501820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	653086	133501820	7711611	10181	12327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								16	311					0	0	1	0	0	T	133730325	C	T	133730325	3	4	22	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	10182	12328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								75	406					1.39159e-27	1.61281e-27	1	1	0	A	133755491	C	A	133755491	3	1	22	1	0	0	0	0	1	0	0	0	92	797	28	2	1634	2	ABL1	9	133755491	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25166	133755491	7457940	10183	12329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								67	760					0	0	1	0	0	C	133759474	G	C	133759474	3	2	22	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	10184	12330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								112	539					0	0	1	0	0	T	133760702	C	T	133760702	4	4	22	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	10185	12331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								82	376					0	0	1	0	0	T	133760790	C	T	133760790	3	4	22	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	10186	12332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448616.1_Silent_p.S430S|FIBCD1_ENST00000372337.2_Silent_p.S272S|FIBCD1_ENST00000253018.4_Intron	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													132	515					1.50598e-64	1.90284e-64	1	1	0	T	133779547	G	T	133779547	2	4	22	1	0	0	0	0	0	0	0	1	5917	987	35	2		2	FIBCD1	9	133779547	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18757	133779547	7433884	10187	12333											
LAMC3	10319	broad.mit.edu	37	chr9	133928274	133928274	+	Frame_Shift_Del	DEL	C	C	-													aggacgtggcccctccactgCcccccttccacttccagcgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133928274delC	ENST00000361069.4	+	11	1994	c.1861delC	c.(1861-1863)ccfs	p.P622fs	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	622	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)		CCCTCCACTGCCCCCCTTCCA	0.667											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	372	---	---	---	---						-	133928274	C	-	133928274	7	5	22	1	0	1	0	1	0	0	0	0	8655	739	26	0	1903	0	LAMC3	9	133928274	Frame_Shift_Del	DEL	C	TCGA-IB-7651-01A-11D-2154-08	148727	133928274	7285157	10188	12334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	49	171					0	0	1	0	0	A	133928326	G	A	133928326	3	1	22	1	0	0	0	0	1	0	0	0	8655	1087	38	1	1955	1	LAMC3	9	133928326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52	133928326	7285105	10189	12335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	278					0	0	1	0	0	T	133961019	C	T	133961019	3	4	22	1	0	0	0	0	1	0	0	0	8655	768	27	1	4237	1	LAMC3	9	133961019	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32693	133961019	7252412	10190	12336											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|NUP214_ENST00000411637.2_Intron|NUP214_ENST00000451030.1_Missense_Mutation_p.T592A|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000587264.1_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"								140	1290					0	0	1	0	0	G	134021520	A	G	134021520	3	3	22	1	0	0	0	0	1	0	0	0	10810	391	14	3	1824	3	NUP214	9	134021520	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60501	134021520	7191911	10191	12337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000483497.2_Missense_Mutation_p.A472D|NUP214_ENST00000411637.2_Missense_Mutation_p.A1636D|NUP214_ENST00000451030.1_Missense_Mutation_p.A1647D			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"								111	471					8.05857e-52	1.00114e-51	1	1	0	A	134073818	C	A	134073818	3	1	22	1	0	0	0	0	1	0	0	0	10810	797	28	2	5051	2	NUP214	9	134073818	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52298	134073818	7139613	10192	12338											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000483497.2_Missense_Mutation_p.S561L|NUP214_ENST00000411637.2_Missense_Mutation_p.S1725L|NUP214_ENST00000451030.1_Missense_Mutation_p.S1736L			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"								79	382					0	0	1	0	0	T	134074085	C	T	134074085	3	4	22	1	0	0	0	0	1	0	0	0	10810	893	31	1	5318	1	NUP214	9	134074085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	267	134074085	7139346	10193	12339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000483497.2_Silent_p.S713S|NUP214_ENST00000411637.2_Silent_p.S1877S|NUP214_ENST00000451030.1_Silent_p.S1888S			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"								112	368					0	0	1	0	0	C	134090667	T	C	134090667	2	2	22	1	0	0	0	0	0	0	0	1	10810	1693	59	3		3	NUP214	9	134090667	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16582	134090667	7122764	10194	12340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000483497.2_Missense_Mutation_p.P829H|NUP214_ENST00000411637.2_Missense_Mutation_p.P1993H|NUP214_ENST00000451030.1_Missense_Mutation_p.P2004H			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"								44	264					1.03325e-14	1.12462e-14	1	1	0	A	134103652	C	A	134103652	3	1	22	1	0	0	0	0	1	0	0	0	10810	681	24	2	6138	2	NUP214	9	134103652	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12985	134103652	7109779	10195	12341											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	206					1.02591e-13	1.10939e-13	1	1	0	A	134151321	C	A	134151321	3	1	22	1	0	0	0	0	1	0	0	0	5658	912	32	2	613	2	FAM78A	9	134151321	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47669	134151321	7062110	10196	12342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	174					0	0	1	0	0	T	134151457	C	T	134151457	3	4	22	1	0	0	0	0	1	0	0	0	5658	623	22	2	749	2	FAM78A	9	134151457	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136	134151457	7061974	10197	12343											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_5'UTR|MED27_ENST00000474263.1_5'UTR|MED27_ENST00000372184.3_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													9	255					0	0	1	0	0	T	134955158	C	T	134955158	3	4	22	1	0	0	0	0	1	0	0	0	9495	768	27	1	893	1	MED27	9	134955158	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	803701	134955158	6258273	10198	12344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360670.3_Silent_p.P74P|NTNG2_ENST00000393228.4_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													52	189					0	0	1	0	0	T	135073361	C	T	135073361	2	4	22	1	0	0	0	0	0	0	0	1	10753	668	24	2		2	NTNG2	9	135073361	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118203	135073361	6140070	10199	12345											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360670.3_Missense_Mutation_p.T147M|NTNG2_ENST00000393228.4_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													50	247					0	0	1	0	0	T	135073579	C	T	135073579	3	4	22	1	0	0	0	0	1	0	0	0	10753	536	19	1	446	1	NTNG2	9	135073579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218	135073579	6139852	10200	12346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360670.3_Missense_Mutation_p.Y199C|NTNG2_ENST00000393228.4_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													6	242					0	0	1	0	0	G	135073735	A	G	135073735	3	3	22	1	0	0	0	0	1	0	0	0	10753	391	14	3	602	3	NTNG2	9	135073735	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	156	135073735	6139696	10201	12347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360670.3_Silent_p.L256L|NTNG2_ENST00000393228.4_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													21	555					0	0	1	0	0	T	135073905	C	T	135073905	2	4	22	1	0	0	0	0	0	0	0	1	10753	796	28	2		2	NTNG2	9	135073905	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170	135073905	6139526	10202	12348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360670.3_Silent_p.I284I|NTNG2_ENST00000393228.4_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													70	244					0	0	1	0	0	T	135073991	C	T	135073991	2	4	22	1	0	0	0	0	0	0	0	1	10753	874	31	1		1	NTNG2	9	135073991	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86	135073991	6139440	10203	12349											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360670.3_Silent_p.P337P|NTNG2_ENST00000393228.4_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													14	126					0	0	1	0	0	T	135102389	C	T	135102389	2	4	22	1	0	0	0	0	0	0	0	1	10753	610	22	2		2	NTNG2	9	135102389	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28398	135102389	6111042	10204	12350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360670.3_Intron|NTNG2_ENST00000393228.4_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													10	57					0	0	1	0	0	A	135105980	G	A	135105980	3	1	22	1	0	0	0	0	1	0	0	0	10753	1203	42	2	1066	2	NTNG2	9	135105980	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3591	135105980	6107451	10205	12351											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360670.3_Silent_p.C359C|NTNG2_ENST00000393228.4_Silent_p.C345C	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													53	309					0	0	1	0	0	T	135114495	C	T	135114495	2	4	22	1	0	0	0	0	0	0	0	1	10753	776	27	1		1	NTNG2	9	135114495	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8515	135114495	6098936	10206	12352											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360670.3_Missense_Mutation_p.C483Y|NTNG2_ENST00000490694.1_3'UTR|NTNG2_ENST00000393228.4_Missense_Mutation_p.C469Y	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													10	42					0	0	1	0	0	A	135117335	G	A	135117335	3	1	22	1	0	0	0	0	1	0	0	0	10753	1319	46	2	1456	2	NTNG2	9	135117335	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2840	135117335	6096096	10207	12353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													240	884					0	0	1	0	0	G	135139642	T	G	135139642	3	3	22	1	0	0	0	0	1	0	0	0	14195	1841	64	3	19	3	SETX	9	135139642	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22307	135139642	6073789	10208	12354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	406					0	0	1	0	0	G	135203375	T	G	135203375	2	3	22	1	0	0	0	0	0	0	0	1	14195	1608	56	3		3	SETX	9	135203375	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63733	135203375	6010056	10209	12355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	381					0	0	1	0	0	T	135203494	C	T	135203494	3	4	22	1	0	0	0	0	1	0	0	0	14195	884	31	1	4610	1	SETX	9	135203494	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119	135203494	6009937	10210	12356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													144	653					0	0	1	0	0	T	135277105	C	T	135277105	2	4	22	1	0	0	0	0	0	0	0	1	16780	842	30	2		2	TTF1	9	135277105	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73611	135277105	5936326	10211	12357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													129	735					1.90269e-63	2.40132e-63	1	1	0	T	135277186	G	T	135277186	3	4	22	1	0	0	0	0	1	0	0	0	16780	1252	44	2	1734	2	TTF1	9	135277186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81	135277186	5936245	10212	12358											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	547					0	0	1	0	0	A	135374874	G	A	135374874	2	1	22	1	0	0	0	0	0	0	0	1	2488	933	33	2		2	C9orf171	9	135374874	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97688	135374874	5838557	10213	12359											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	161	591					0	0	1	0	0	T	135778026	C	T	135778026	3	4	22	1	0	0	0	0	1	0	0	0	16666	884	31	1	1161	1	TSC1	9	135778026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	403152	135778026	5435405	10214	12360											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372123.1_Missense_Mutation_p.D151E|GFI1B_ENST00000534944.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372124.1_Missense_Mutation_p.D151E|GFI1B_ENST00000450530.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372122.1_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													39	197					9.73076e-26	1.11809e-25	1	1	0	A	135863798	C	A	135863798	3	1	22	1	0	0	0	0	1	0	0	0	6382	564	20	2	463	2	GFI1B	9	135863798	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85772	135863798	5349633	10215	12361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372123.1_Silent_p.C235C|GFI1B_ENST00000534944.1_Silent_p.C235C|GFI1B_ENST00000372124.1_Silent_p.C235C|GFI1B_ENST00000450530.1_Silent_p.C281C|GFI1B_ENST00000372122.1_Silent_p.C281C			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													6	295					0	0	1	0	0	T	135866287	C	T	135866287	2	4	22	1	0	0	0	0	0	0	0	1	6382	776	27	1		1	GFI1B	9	135866287	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2489	135866287	5347144	10216	12362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	1550					0	0	1	0	0	T	135940536	C	T	135940536	2	4	22	1	0	0	0	0	0	0	0	1	3231	874	31	1		1	CEL	9	135940536	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74249	135940536	5272895	10217	12363											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	158					0	0	1	0	0	T	135942552	C	T	135942552	2	4	22	1	0	0	0	0	0	0	0	1	3231	610	22	2		2	CEL	9	135942552	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2016	135942552	5270879	10218	12364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372050.3_Missense_Mutation_p.F738L|RALGDS_ENST00000542690.1_Missense_Mutation_p.F809L|RALGDS_ENST00000372062.3_Missense_Mutation_p.F709L|RALGDS_ENST00000372047.3_Missense_Mutation_p.F726L|RALGDS_ENST00000393157.3_Missense_Mutation_p.F737L	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, "								9	78					4.68919e-08	4.88816e-08	1	1	0	T	135977147	G	T	135977147	3	4	22	1	0	0	0	0	1	0	0	0	13068	933	33	2	542	2	RALGDS	9	135977147	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34595	135977147	5236284	10219	12365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372043.3_Missense_Mutation_p.G119R|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000540636.1_Missense_Mutation_p.G102R|GBGT1_ENST00000372038.3_Missense_Mutation_p.G131E|GBGT1_ENST00000372040.3_Missense_Mutation_p.G119R			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, "								23	147					0	0	1	0	0	T	136030569	C	T	136030569	3	4	22	1	0	0	0	0	1	0	0	0	13068	623	22	2		2	RALGDS	9	136030569	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53422	136030569	5182862	10220	12366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	256					0	0	1	0	0	T	136132863	C	T	136132863	1	4	22	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	10221	12367											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343730.5_Missense_Mutation_p.R155M|MED22_ENST00000344469.5_3'UTR|MED22_ENST00000486395.1_Intron|MED22_ENST00000476080.1_3'UTR			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													6	191					8.12818e-05	8.2724e-05	1	1	0	A	136208494	C	A	136208494	3	1	22	1	0	0	0	0	1	0	0	0	9490	681	24	2	142	2	MED22	9	136208494	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75631	136208494	5004937	10222	12368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000315731.4_Missense_Mutation_p.L146F|RPL7A_ENST00000463740.1_3'UTR	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													27	106					0	0	1	0	0	T	136218201	C	T	136218201	3	4	22	1	0	0	0	0	1	0	0	0	13652	565	20	2	811	2	RPL7A	9	136218201	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9707	136218201	4995230	10223	12369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371991.3_Silent_p.A143A|SURF4_ENST00000485435.2_Silent_p.A143A|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_Intron	NM_033161.2	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													19	86					0	0	1	0	0	T	136231830	C	T	136231830	2	4	22	1	0	0	0	0	0	0	0	1	15461	639	23	1		1	SURF4	9	136231830	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13629	136231830	4981601	10224	12370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371955.1_5'UTR|C9orf96_ENST00000426926.2_Missense_Mutation_p.E46D|C9orf96_ENST00000468046.1_3'UTR	NM_153710.3	NP_714921.3	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													9	221					2.17888e-05	2.22852e-05	1	1	0	T	136245957	G	T	136245957	3	4	22	1	0	0	0	0	1	0	0	0	2526	991	35	2	144	2	C9orf96	9	136245957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14127	136245957	4967474	10225	12371											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_714921.3	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													35	200					0	0	1	0	0	T	136260729	C	T	136260729	2	4	22	1	0	0	0	0	0	0	0	1	2526	697	25	2		2	C9orf96	9	136260729	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14772	136260729	4952702	10226	12372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	277					0	0	1	0	0	A	136337180	G	A	136337180	3	1	22	1	0	0	0	0	1	0	0	0	14604	1174	41	2	40	2	SLC2A6	9	136337180	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76451	136337180	4876251	10227	12373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	251					0	0	1	0	0	C	136337292	A	C	136337292	3	2	22	1	0	0	0	0	1	0	0	0	14604	72	3	3	152	3	SLC2A6	9	136337292	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112	136337292	4876139	10228	12374											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	302					0	0	1	0	0	A	136385362	G	A	136385362	3	1	22	1	0	0	0	0	1	0	0	0	16276	1087	38	1	497	1	TMEM8C	9	136385362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48070	136385362	4828069	10229	12375											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422262.2_Silent_p.S706S|SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000439388.1_Silent_p.S874S|SARDH_ENST00000371868.1_Silent_p.S324S	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													7	39					0	0	1	0	0	A	136531866	G	A	136531866	2	1	22	1	0	0	0	0	0	0	0	1	13894	1078	38	1		1	SARDH	9	136531866	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146504	136531866	4681565	10230	12376											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422262.2_Missense_Mutation_p.A401T|SARDH_ENST00000439388.1_Missense_Mutation_p.A569T|SARDH_ENST00000371868.1_5'UTR	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													9	414					0	0	1	0	0	T	136561447	C	T	136561447	3	4	22	1	0	0	0	0	1	0	0	0	13894	768	27	1	1083	1	SARDH	9	136561447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29581	136561447	4651984	10231	12377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422262.2_Silent_p.H306H|SARDH_ENST00000439388.1_Silent_p.H474H	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													76	494					0	0	1	0	0	A	136573457	G	A	136573457	2	1	22	1	0	0	0	0	0	0	0	1	13894	1136	40	1		1	SARDH	9	136573457	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12010	136573457	4639974	10232	12378											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371867.1_Silent_p.I212I|SARDH_ENST00000422262.2_Silent_p.I133I|SARDH_ENST00000439388.1_Silent_p.I301I	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													67	268					0	0	1	0	0	A	136594899	G	A	136594899	2	1	22	1	0	0	0	0	0	0	0	1	13894	1048	37	1		1	SARDH	9	136594899	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21442	136594899	4618532	10233	12379											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								66	343					0	0	1	0	0	C	136901300	T	C	136901300	3	2	22	1	0	0	0	0	1	0	0	0	1505	1696	59	3	402	3	BRD3	9	136901300	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	306401	136901300	4312131	10234	12380											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371834.2_Silent_p.P423P|BRD3_ENST00000357885.2_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								25	109					0	0	1	0	0	T	136907020	C	T	136907020	2	4	22	1	0	0	0	0	0	0	0	1	1505	639	23	1		1	BRD3	9	136907020	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5720	136907020	4306411	10235	12381											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371834.2_Silent_p.C315C|BRD3_ENST00000357885.2_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								23	149					0	0	1	0	0	A	136913346	G	A	136913346	2	1	22	1	0	0	0	0	0	0	0	1	1505	1079	38	1		1	BRD3	9	136913346	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6326	136913346	4300085	10236	12382											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371834.2_Silent_p.P265P|BRD3_ENST00000357885.2_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								20	354					0	0	1	0	0	T	136913496	C	T	136913496	2	4	22	1	0	0	0	0	0	0	0	1	1505	755	27	1		1	BRD3	9	136913496	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150	136913496	4299935	10237	12383											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371834.2_Silent_p.S99S|BRD3_ENST00000357885.2_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								31	264					0	0	1	0	0	A	136917482	G	A	136917482	2	1	22	1	0	0	0	0	0	0	0	1	1505	1078	38	1		1	BRD3	9	136917482	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3986	136917482	4295949	10238	12384											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371834.2_Missense_Mutation_p.A8T|BRD3_ENST00000357885.2_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								24	113					0	0	1	0	0	T	136918578	C	T	136918578	3	4	22	1	0	0	0	0	1	0	0	0	1505	768	27	1	2202	1	BRD3	9	136918578	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1096	136918578	4294853	10239	12385											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													195	887					0	0	1	0	0	T	137019649	C	T	137019649	2	4	22	1	0	0	0	0	0	0	0	1	17363	639	23	1		1	WDR5	9	137019649	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101071	137019649	4193782	10240	12386											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Silent_p.L425L			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													21	548					0	0	1	0	0	A	137328346	G	A	137328346	2	1	22	1	0	0	0	0	0	0	0	1	13815	1306	46	2		2	RXRA	9	137328346	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	308697	137328346	3885085	10241	12387											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	304					0	0	1	0	0	T	137591908	C	T	137591908	3	4	22	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	10242	12388											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													165	863					0	0	1	0	0	T	137620520	C	T	137620520	3	4	22	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	10243	12389											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	425					0.000308642	0.000312942	1	1	0	A	137623411	C	A	137623411	3	1	22	1	0	0	0	0	1	0	0	0	3719	681	24	2	1264	2	COL5A1	9	137623411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2891	137623411	3590020	10244	12390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	489					0	0	1	0	0	T	137630615	C	T	137630615	2	4	22	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	10245	12391											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	382					1.1794e-34	1.40398e-34	1	1	0	T	137630649	G	T	137630649	4	4	22	1	0	0	0	0	0	1	0	0	3719	943	33	2	1531	2	COL5A1	9	137630649	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	137630649	3582782	10246	12392											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	319					0	0	1	0	0	A	137653790	G	A	137653790	3	1	22	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	10247	12393											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	341					0	0	1	0	0	T	137653805	C	T	137653805	3	4	22	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	10248	12394											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	549					0	0	1	0	0	A	137671958	G	A	137671958	3	1	22	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	10249	12395											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	29	114					0	0	1	0	0	A	137703363	G	A	137703363	3	1	22	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	10250	12396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	253					2.69774e-35	3.21965e-35	1	1	0	T	137710721	G	T	137710721	3	4	22	1	0	0	0	0	1	0	0	0	3719	1000	35	2	4588	2	COL5A1	9	137710721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7358	137710721	3502710	10251	12397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	615					0	0	1	0	0	G	137715277	A	G	137715277	3	3	22	1	0	0	0	0	1	0	0	0	3719	247	9	3	4902	3	COL5A1	9	137715277	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4556	137715277	3498154	10252	12398											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	185					0	0	1	0	0	A	137727028	G	A	137727028	3	1	22	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	10253	12399											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	130					0.0381472	0.0382505	1	1	0	A	137772718	C	A	137772718	2	1	22	1	0	0	0	0	0	0	0	1	5825	900	32	2		2	FCN2	9	137772718	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45690	137772718	3440713	10254	12400											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	129					0	0	1	0	0	A	137777195	G	A	137777195	3	1	22	1	0	0	0	0	1	0	0	0	5825	1174	41	2	430	2	FCN2	9	137777195	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4477	137777195	3436236	10255	12401											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	378					0	0	1	0	0	A	137801699	G	A	137801699	3	1	22	1	0	0	0	0	1	0	0	0	5824	1087	38	1	58	1	FCN1	9	137801699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24504	137801699	3411732	10256	12402											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	124					0	0	1	0	0	A	137804960	G	A	137804960	3	1	22	1	0	0	0	0	1	0	0	0	5824	1115	39	1	626	1	FCN1	9	137804960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3261	137804960	3408471	10257	12403											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137990133C>T	ENST00000252854.4	+	4	591	c.402_splice	c.e4-1	p.A135_splice	OLFM1_ENST00000371796.3_Splice_Site_p.A126_splice|OLFM1_ENST00000371793.3_Splice_Site_p.A153_splice	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													25	202					0	0	1	0	0	T	137990133	C	T	137990133	5	4	22	1	0	0	0	0	0	0	1	0	10900	782	27	1	428	1	OLFM1	9	137990133	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	185173	137990133	3223298	10258	12404											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371796.3_Silent_p.G231G|OLFM1_ENST00000371793.3_Silent_p.G258G	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													14	69					0	0	1	0	0	T	137998692	C	T	137998692	2	4	22	1	0	0	0	0	0	0	0	1	10900	755	27	1		1	OLFM1	9	137998692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8559	137998692	3214739	10259	12405											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000241600.5_Missense_Mutation_p.A16T|MRPS2_ENST00000488610.1_3'UTR|C9orf116_ENST00000371791.1_Intron			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													45	146					0	0	1	0	0	A	138392846	G	A	138392846	3	1	22	1	0	0	0	0	1	0	0	0	9880	1319	46	2	52	2	MRPS2	9	138392846	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	394154	138392846	2820585	10260	12406											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MRPS2_ENST00000241600.5_Silent_p.L125L|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR			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													36	267					0	0	1	0	0	T	138395463	C	T	138395463	2	4	22	1	0	0	0	0	0	0	0	1	9880	842	30	2		2	MRPS2	9	138395463	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2617	138395463	2817968	10261	12407											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MRPS2_ENST00000241600.5_Missense_Mutation_p.G174S|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR			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													48	233					0	0	1	0	0	A	138395608	G	A	138395608	3	1	22	1	0	0	0	0	1	0	0	0	9880	1116	39	1	534	1	MRPS2	9	138395608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145	138395608	2817823	10262	12408											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539850.1_Intron|OBP2A_ENST00000371776.1_Intron|OBP2A_ENST00000342114.4_Silent_p.L98L			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													30	177					0	0	1	0	0	A	138440528	G	A	138440528	4	1	22	1	0	0	0	0	0	1	0	0	10858	1363	47	2		2	OBP2A	9	138440528	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44920	138440528	2772903	10263	12409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	457					0	0	1	0	0	T	138516029	C	T	138516029	3	4	22	1	0	0	0	0	1	0	0	0	6510	661	23	1	89	1	GLT6D1	9	138516029	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75501	138516029	2697402	10264	12410											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	207					0	0	1	0	0	T	138516299	C	T	138516299	3	4	22	1	0	0	0	0	1	0	0	0	6510	768	27	1	359	1	GLT6D1	9	138516299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	270	138516299	2697132	10265	12411											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	307					0	0	1	0	0	C	138517963	T	C	138517963	3	2	22	1	0	0	0	0	1	0	0	0	6510	1638	57	3	629	3	GLT6D1	9	138517963	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1664	138517963	2695468	10266	12412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	83					0	0	1	0	0	T	138557549	C	T	138557549	2	4	22	1	0	0	0	0	0	0	0	1	8726	776	27	1		1	LCN9	9	138557549	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39586	138557549	2655882	10267	12413											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	99					0	0	1	0	0	T	138557746	C	T	138557746	3	4	22	1	0	0	0	0	1	0	0	0	8726	681	24	2	537	2	LCN9	9	138557746	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	197	138557746	2655685	10268	12414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001012415.2	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													28	200					0	0	1	0	0	T	138586218	C	T	138586218	3	4	22	1	0	0	0	0	1	0	0	0	14977	594	21	2	251	2	SOHLH1	9	138586218	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28472	138586218	2627213	10269	12415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491806.2_Missense_Mutation_p.L246M|KCNT1_ENST00000371757.2_Missense_Mutation_p.L279M|KCNT1_ENST00000490355.2_Missense_Mutation_p.L260M|KCNT1_ENST00000488444.2_Missense_Mutation_p.L260M|KCNT1_ENST00000486577.2_Missense_Mutation_p.L240M|KCNT1_ENST00000263604.3_Missense_Mutation_p.L260M|KCNT1_ENST00000487664.1_Missense_Mutation_p.L231M			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													92	353					2.78983e-34	3.31651e-34	1	1	0	A	138650335	C	A	138650335	3	1	22	1	0	0	0	0	1	0	0	0	8135	796	28	2	873	2	KCNT1	9	138650335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64117	138650335	2563096	10270	12416											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491806.2_Missense_Mutation_p.R518C|KCNT1_ENST00000371757.2_Missense_Mutation_p.R551C|KCNT1_ENST00000490355.2_Missense_Mutation_p.R532C|KCNT1_ENST00000488444.2_Missense_Mutation_p.R532C|KCNT1_ENST00000486577.2_Missense_Mutation_p.R512C|KCNT1_ENST00000263604.3_Missense_Mutation_p.R532C|KCNT1_ENST00000487664.1_Missense_Mutation_p.R506C			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													62	275					0	0	1	0	0	T	138662175	C	T	138662175	3	4	22	1	0	0	0	0	1	0	0	0	8135	768	27	1	1717	1	KCNT1	9	138662175	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11840	138662175	2551256	10271	12417											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491806.2_Missense_Mutation_p.V802M|KCNT1_ENST00000371757.2_Missense_Mutation_p.V835M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V814M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V816M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V794M|KCNT1_ENST00000263604.3_Missense_Mutation_p.V816M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V790M			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													46	192					0	0	1	0	0	A	138669337	G	A	138669337	3	1	22	1	0	0	0	0	1	0	0	0	8135	1145	40	1	2585	1	KCNT1	9	138669337	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7162	138669337	2544094	10272	12418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	354					0	0	1	0	0	T	138712706	C	T	138712706	2	4	22	1	0	0	0	0	0	0	0	1	2629	639	23	1		1	CAMSAP1	9	138712706	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43369	138712706	2500725	10273	12419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	163					0	0	1	0	0	T	138714511	C	T	138714511	3	4	22	1	0	0	0	0	1	0	0	0	2629	893	31	1	2840	1	CAMSAP1	9	138714511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1805	138714511	2498920	10274	12420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													153	926					3.78446e-69	4.80127e-69	1	1	0	A	138714825	C	A	138714825	3	1	22	1	0	0	0	0	1	0	0	0	2629	681	24	2	3154	2	CAMSAP1	9	138714825	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	314	138714825	2498606	10275	12421											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	335					0	0	1	0	0	A	138905137	G	A	138905137	3	1	22	1	0	0	0	0	1	0	0	0	10184	1145	40	1	608	1	NACC2	9	138905137	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190312	138905137	2308294	10276	12422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	127					0	0	1	0	0	T	139008678	C	T	139008678	3	4	22	1	0	0	0	0	1	0	0	0	2510	652	23	1	268	1	C9orf69	9	139008678	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103541	139008678	2204753	10277	12423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	68					0	0	1	0	0	T	139090800	C	T	139090800	3	4	22	1	0	0	0	0	1	0	0	0	8812	768	27	1	645	1	LHX3	9	139090800	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82122	139090800	2122631	10278	12424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	109					4.26978e-12	4.57227e-12	1	1	0	A	139091657	C	A	139091657	3	1	22	1	0	0	0	0	1	0	0	0	8812	680	24	2	888	2	LHX3	9	139091657	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	857	139091657	2121774	10279	12425											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	380					0	0	1	0	0	T	139100954	C	T	139100954	3	4	22	1	0	0	0	0	1	0	0	0	12936	768	27	1	383	1	QSOX2	9	139100954	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9297	139100954	2112477	10280	12426											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001139110.1	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													40	249					0	0	1	0	0	A	139229123	G	A	139229123	2	1	22	1	0	0	0	0	0	0	0	1	6775	1074	38	1		1	GPSM1	9	139229123	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128169	139229123	1984308	10281	12427											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001139110.1	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													25	108					0	0	1	0	0	A	139243186	G	A	139243186	2	1	22	1	0	0	0	0	0	0	0	1	6775	933	33	2		2	GPSM1	9	139243186	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14063	139243186	1970245	10282	12428											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	168					0	0	1	0	0	A	139256578	G	A	139256578	4	1	22	1	0	0	0	0	0	1	0	0	4696	1074	38	1	117	1	DNLZ	9	139256578	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13392	139256578	1956853	10283	12429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	127					0	0	1	0	0	A	139262245	G	A	139262245	2	1	22	1	0	0	0	0	0	0	0	1	2670	1136	40	1		1	CARD9	9	139262245	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5667	139262245	1951186	10284	12430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	78					0	0	1	0	0	A	139264220	G	A	139264220	2	1	22	1	0	0	0	0	0	0	0	1	2670	1045	37	1		1	CARD9	9	139264220	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1975	139264220	1949211	10285	12431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	97					3.52763e-06	3.62938e-06	1	1	0	T	139265005	G	T	139265005	3	4	22	1	0	0	0	0	1	0	0	0	2670	1203	42	2	923	2	CARD9	9	139265005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	785	139265005	1948426	10286	12432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	329					0	0	1	0	0	T	139283031	C	T	139283031	3	4	22	1	0	0	0	0	1	0	0	0	14891	768	27	1	3473	1	SNAPC4	9	139283031	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18026	139283031	1930400	10287	12433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	360					0	0	1	0	0	T	139286432	C	T	139286432	3	4	22	1	0	0	0	0	1	0	0	0	14891	652	23	1	3528	1	SNAPC4	9	139286432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3401	139286432	1926999	10288	12434											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_015160.1	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													93	401					0	0	1	0	0	G	139309012	A	G	139309012	3	3	22	1	0	0	0	0	1	0	0	0	12188	159	6	3	463	3	PMPCA	9	139309012	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22580	139309012	1904419	10289	12435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_015160.1	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													9	224					0	0	1	0	0	G	139313360	A	G	139313360	3	3	22	1	0	0	0	0	1	0	0	0	12188	275	10	3	1228	3	PMPCA	9	139313360	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4348	139313360	1900071	10290	12436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	302					2.74318e-10	2.90674e-10	1	1	0	T	139324245	G	T	139324245	3	4	22	1	0	0	0	0	1	0	0	0	7801	971	34	2	121	2	INPP5E	9	139324245	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10885	139324245	1889186	10291	12437											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	203					0	0	1	0	0	T	139325493	C	T	139325493	2	4	22	1	0	0	0	0	0	0	0	1	7801	523	19	1		1	INPP5E	9	139325493	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1248	139325493	1887938	10292	12438											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	78					0	0	1	0	0	A	139333311	G	A	139333311	2	1	22	1	0	0	0	0	0	0	0	1	7801	1194	42	2		2	INPP5E	9	139333311	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7818	139333311	1880120	10293	12439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431893.2_Silent_p.S2027S|SEC16A_ENST00000313084.5_Silent_p.S211S|SEC16A_ENST00000290037.6_Silent_p.S2027S|SEC16A_ENST00000371706.3_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													4	43					0	0	1	0	0	A	139341761	G	A	139341761	2	1	22	1	0	0	0	0	0	0	0	1	14040	1078	38	1		1	SEC16A	9	139341761	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8450	139341761	1871670	10294	12440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431893.2_Silent_p.S1435S|SEC16A_ENST00000290037.6_Silent_p.S1435S|SEC16A_ENST00000371706.3_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													66	313					0	0	1	0	0	T	139357393	C	T	139357393	2	4	22	1	0	0	0	0	0	0	0	1	14040	755	27	1		1	SEC16A	9	139357393	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15632	139357393	1856038	10295	12441											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431893.2_Missense_Mutation_p.Q881H|SEC16A_ENST00000290037.6_Missense_Mutation_p.Q881H|SEC16A_ENST00000371706.3_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													39	149					7.05121e-23	7.99584e-23	1	1	0	A	139368891	C	A	139368891	3	1	22	1	0	0	0	0	1	0	0	0	14040	680	24	2	4016	2	SEC16A	9	139368891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11498	139368891	1844540	10296	12442											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431893.2_Missense_Mutation_p.A175D|SEC16A_ENST00000290037.6_Missense_Mutation_p.A175D|SEC16A_ENST00000371706.3_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													27	103					4.7796e-09	5.01584e-09	1	1	0	T	139371010	G	T	139371010	3	4	22	1	0	0	0	0	1	0	0	0	14040	971	34	2	6135	2	SEC16A	9	139371010	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2119	139371010	1842421	10297	12443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	322					0	0	1	0	0	A	139371882	G	A	139371882	2	1	22	1	0	0	0	0	0	0	0	1	14040	1161	41	2		2	SEC16A	9	139371882	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	872	139371882	1841549	10298	12444											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			5	91					0	0	1	0	0	T	139390585	C	T	139390585	3	4	22	1	0	0	0	0	1	0	0	0	10594	536	19	1	65	1	NOTCH1	9	139390585	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18703	139390585	1822846	10299	12445											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			11	256					0	0	1	0	0	A	139391776	G	A	139391776	3	1	22	1	0	0	0	0	1	0	0	0	10594	971	34	2	1256	2	NOTCH1	9	139391776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1191	139391776	1821655	10300	12446											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			66	276					0	0	1	0	0	T	139391890	C	T	139391890	3	4	22	1	0	0	0	0	1	0	0	0	10594	768	27	1	1370	1	NOTCH1	9	139391890	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114	139391890	1821541	10301	12447											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			24	147					0	0	1	0	0	T	139395286	C	T	139395286	2	4	22	1	0	0	0	0	0	0	0	1	10594	755	27	1		1	NOTCH1	9	139395286	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3396	139395286	1818145	10302	12448											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			43	196					0	0	1	0	0	T	139397682	C	T	139397682	3	4	22	1	0	0	0	0	1	0	0	0	10594	768	27	1	2580	1	NOTCH1	9	139397682	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2396	139397682	1815749	10303	12449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			33	167					0	0	1	0	0	T	139405693	C	T	139405693	3	4	22	1	0	0	0	0	1	0	0	0	10594	478	17	2	5245	2	NOTCH1	9	139405693	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8011	139405693	1807738	10304	12450											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			15	104					0	0	1	0	0	T	139410085	C	T	139410085	3	4	22	1	0	0	0	0	1	0	0	0	10594	768	27	1	6010	1	NOTCH1	9	139410085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4392	139410085	1803346	10305	12451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			76	327					6.11987e-43	7.46226e-43	1	1	0	A	139412240	C	A	139412240	3	1	22	1	0	0	0	0	1	0	0	0	10594	855	30	2	6370	2	NOTCH1	9	139412240	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2155	139412240	1801191	10306	12452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000308874.7_Silent_p.C56C|EGFL7_ENST00000371698.3_Silent_p.C56C|EGFL7_ENST00000492002.1_3'UTR			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													126	641					0	0	1	0	0	T	139563096	C	T	139563096	2	4	22	1	0	0	0	0	0	0	0	1	4990	776	27	1		1	EGFL7	9	139563096	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150856	139563096	1650335	10307	12453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000308874.7_Missense_Mutation_p.C161Y|EGFL7_ENST00000371698.3_Missense_Mutation_p.C161Y|EGFL7_ENST00000492002.1_3'UTR			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													49	204					0	0	1	0	0	A	139564693	G	A	139564693	3	1	22	1	0	0	0	0	1	0	0	0	4990	1319	46	2	500	2	EGFL7	9	139564693	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1597	139564693	1648738	10308	12454											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	355					0	0	1	0	0	A	139617731	G	A	139617731	2	1	22	1	0	0	0	0	0	0	0	1	5638	1132	40	1		1	FAM69B	9	139617731	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53038	139617731	1595700	10309	12455											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	189					0	0	1	0	0	A	139617866	G	A	139617866	2	1	22	1	0	0	0	0	0	0	0	1	5638	933	33	2		2	FAM69B	9	139617866	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135	139617866	1595565	10310	12456											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	97					0	0	1	0	0	T	139651524	C	T	139651524	3	4	22	1	0	0	0	0	1	0	0	0	8725	652	23	1	361	1	LCN8	9	139651524	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33658	139651524	1561907	10311	12457											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	161					0	0	1	0	0	A	139740881	G	A	139740881	3	1	22	1	0	0	0	0	1	0	0	0	2489	1087	38	1	2017	1	C9orf172	9	139740881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89357	139740881	1472550	10312	12458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	186					0	0	1	0	0	T	139741017	C	T	139741017	2	4	22	1	0	0	0	0	0	0	0	1	2489	767	27	1		1	C9orf172	9	139741017	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136	139741017	1472414	10313	12459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000492540.1_3'UTR|PHPT1_ENST00000371661.1_Missense_Mutation_p.V27I|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													77	354					0	0	1	0	0	A	139743961	G	A	139743961	3	1	22	1	0	0	0	0	1	0	0	0	11908	1029	36	2	81	2	PHPT1	9	139743961	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2944	139743961	1469470	10314	12460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000492540.1_3'UTR|PHPT1_ENST00000371661.1_Silent_p.S33S|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													46	413					0	0	1	0	0	T	139743981	C	T	139743981	2	4	22	1	0	0	0	0	0	0	0	1	11908	639	23	1		1	PHPT1	9	139743981	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	139743981	1469450	10315	12461											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.G902G			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													50	224					0	0	1	0	0	T	139752883	C	T	139752883	2	4	22	1	0	0	0	0	0	0	0	1	9254	784	28	2		2	MAMDC4	9	139752883	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8902	139752883	1460548	10316	12462											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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													15	157					0	0	1	0	0	G	139756945	A	G	139756945	3	3	22	1	0	0	0	0	1	0	0	0	4940	174	6	3		3	EDF1	9	139756945	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4062	139756945	1456486	10317	12463											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536468.1_Missense_Mutation_p.R167W|TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000247668.2_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													19	115					0	0	1	0	0	T	139802654	C	T	139802654	3	4	22	1	0	0	0	0	1	0	0	0	16499	643	23	1	513	1	TRAF2	9	139802654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45709	139802654	1410777	10318	12464											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	214					0	0	1	0	0	T	139835759	C	T	139835759	2	4	22	1	0	0	0	0	0	0	0	1	5801	755	27	1		1	FBXW5	9	139835759	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33105	139835759	1377672	10319	12465											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	69					0	0	1	0	0	T	139836053	C	T	139836053	3	4	22	1	0	0	0	0	1	0	0	0	5801	768	27	1	532	1	FBXW5	9	139836053	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	294	139836053	1377378	10320	12466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	49					0	0	1	0	0	A	139836666	G	A	139836666	2	1	22	1	0	0	0	0	0	0	0	1	5801	962	34	2		2	FBXW5	9	139836666	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	613	139836666	1376765	10321	12467											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371625.3_Missense_Mutation_p.A60V|PTGDS_ENST00000460340.1_3'UTR			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													61	269					0	0	1	0	0	T	139873509	C	T	139873509	3	4	22	1	0	0	0	0	1	0	0	0	12791	768	27	1	185	1	PTGDS	9	139873509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36843	139873509	1339922	10322	12468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371625.3_Intron|PTGDS_ENST00000460340.1_3'UTR			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													30	160					0	0	1	0	0	T	139873809	C	T	139873809	3	4	22	1	0	0	0	0	1	0	0	0	12791	551	19	1		1	PTGDS	9	139873809	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	300	139873809	1339622	10323	12469											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	657					0	0	1	0	0	A	139874451	G	A	139874451	3	1	22	1	0	0	0	0	1	0	0	0	12791	1087	38	1	399	1	PTGDS	9	139874451	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	642	139874451	1338980	10324	12470											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341511.6_Missense_Mutation_p.G2340D|ABCA2_ENST00000371605.3_Missense_Mutation_p.G2339D			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													15	46					0	0	1	0	0	T	139903232	C	T	139903232	3	4	22	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	10325	12471											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341511.6_Missense_Mutation_p.R2312W|ABCA2_ENST00000371605.3_Missense_Mutation_p.R2311W			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													22	75					0	0	1	0	0	A	139903317	G	A	139903317	3	1	22	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	10326	12472											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341511.6_Silent_p.R2193R|ABCA2_ENST00000371605.3_Silent_p.R2192R			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													30	130					0	0	1	0	0	T	139904272	C	T	139904272	2	4	22	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	10327	12473											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341511.6_Silent_p.L1529L|ABCA2_ENST00000371605.3_Silent_p.L1528L			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													15	62					0	0	1	0	0	A	139907734	G	A	139907734	2	1	22	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	10328	12474											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341511.6_Missense_Mutation_p.A851T|ABCA2_ENST00000371605.3_Missense_Mutation_p.A850T			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													74	363					0	0	1	0	0	T	139911650	C	T	139911650	3	4	22	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	10329	12475											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341511.6_Missense_Mutation_p.R697H|ABCA2_ENST00000371605.3_Missense_Mutation_p.R696H			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													37	168					0	0	1	0	0	T	139912431	C	T	139912431	3	4	22	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	10330	12476											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Missense_Mutation_p.R445W|ABCA2_ENST00000371605.3_Missense_Mutation_p.R444W			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													63	354					0	0	1	0	0	A	139914880	G	A	139914880	3	1	22	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	10331	12477											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	483					0	0	1	0	0	A	139929414	G	A	139929414	3	1	22	1	0	0	0	0	1	0	0	0	2477	1059	37	1	487	1	C9orf139	9	139929414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14534	139929414	1284017	10332	12478											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	60	386					2.6711e-34	3.17551e-34	1	1	0	A	139944442	C	A	139944442	5	1	22	1	0	0	0	0	0	0	1	0	5167	695	24	2	470	2	ENTPD2	9	139944442	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15028	139944442	1268989	10333	12479											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	121					0	0	1	0	0	A	140005399	G	A	140005399	3	1	22	1	0	0	0	0	1	0	0	0	4757	1057	37	1	210	1	DPP7	9	140005399	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60957	140005399	1208032	10334	12480											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371559.4_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371560.3_Nonsense_Mutation_p.W657*|GRIN1_ENST00000371546.4_Nonsense_Mutation_p.W657*|GRIN1_ENST00000371550.4_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371553.3_Nonsense_Mutation_p.W657*|GRIN1_ENST00000371555.4_Nonsense_Mutation_p.W657*|GRIN1_ENST00000315048.3_Nonsense_Mutation_p.W636*|GRIN1_ENST00000350902.5_Nonsense_Mutation_p.W636*|GRIN1_ENST00000471122.1_3'UTR	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													19	109					0	0	1	0	0	A	140057086	G	A	140057086	4	1	22	1	0	0	0	0	0	1	0	0	6819	1241	43	2	2029	2	GRIN1	9	140057086	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51687	140057086	1156345	10335	12481											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	136					1.12875e-08	1.18168e-08	1	1	0	T	140069809	G	T	140069809	2	4	22	1	0	0	0	0	0	0	0	1	599	987	35	2		2	ANAPC2	9	140069809	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12723	140069809	1143622	10336	12482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	39					0.00010058	0.000102273	1	1	0	T	140069920	G	T	140069920	3	4	22	1	0	0	0	0	1	0	0	0	599	962	34	2	451	2	ANAPC2	9	140069920	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	140069920	1143511	10337	12483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	505					0	0	1	0	0	A	140082017	G	A	140082017	3	1	22	1	0	0	0	0	1	0	0	0	599	1116	39	1	1860	1	ANAPC2	9	140082017	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12097	140082017	1131414	10338	12484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344894.5_Silent_p.L273L|NDOR1_ENST00000458322.2_Silent_p.L273L|NDOR1_ENST00000427047.2_Silent_p.L239L	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													60	249					1.1362e-29	1.32843e-29	1	1	0	A	140109118	C	A	140109118	2	1	22	1	0	0	0	0	0	0	0	1	10296	900	32	2		2	NDOR1	9	140109118	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27101	140109118	1104313	10339	12485											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344894.5_Missense_Mutation_p.A364D|NDOR1_ENST00000458322.2_Missense_Mutation_p.A364D|NDOR1_ENST00000427047.2_Missense_Mutation_p.A330D	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													7	161					5.18039e-06	5.32547e-06	1	1	0	A	140109572	C	A	140109572	3	1	22	1	0	0	0	0	1	0	0	0	10296	797	28	2	1125	2	NDOR1	9	140109572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	454	140109572	1103859	10340	12486											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344894.5_Missense_Mutation_p.A444T|NDOR1_ENST00000458322.2_Missense_Mutation_p.A437T|NDOR1_ENST00000427047.2_Missense_Mutation_p.A410T	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													80	347					0	0	1	0	0	A	140110152	G	A	140110152	3	1	22	1	0	0	0	0	1	0	0	0	10296	1203	42	2	1372	2	NDOR1	9	140110152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	580	140110152	1103279	10341	12487											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344894.5_Missense_Mutation_p.R589W|NDOR1_ENST00000458322.2_Missense_Mutation_p.R582W|NDOR1_ENST00000427047.2_3'UTR	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													42	216					0	0	1	0	0	T	140110839	C	T	140110839	3	4	22	1	0	0	0	0	1	0	0	0	10296	527	19	1	1846	1	NDOR1	9	140110839	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	687	140110839	1102592	10342	12488											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	70					0	0	1	0	0	A	140115570	G	A	140115570	3	1	22	1	0	0	0	0	1	0	0	0	13527	1203	42	2	694	2	RNF208	9	140115570	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4731	140115570	1097861	10343	12489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001170787.1|NP_001170788.1	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													59	461					9.10829e-22	1.02804e-21	1	1	0	T	140128134	G	T	140128134	3	4	22	1	0	0	0	0	1	0	0	0	14624	971	34	2	832	2	SLC34A3	9	140128134	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12564	140128134	1085297	10344	12490											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001170787.1|NP_001170788.1	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													30	107					0	0	1	0	0	T	140128878	C	T	140128878	2	4	22	1	0	0	0	0	0	0	0	1	14624	854	30	2		2	SLC34A3	9	140128878	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	744	140128878	1084553	10345	12491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001170787.1|NP_001170788.1	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)	91	452					7.62712e-44	9.32224e-44	1	1	0	A	140130446	C	A	140130446	3	1	22	1	0	0	0	0	1	0	0	0	14624	796	28	2	1424	2	SLC34A3	9	140130446	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1568	140130446	1082985	10346	12492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	255					1.67942e-08	1.75525e-08	1	1	0	T	140138683	G	T	140138683	3	4	22	1	0	0	0	0	1	0	0	0	5511	1203	42	2	156	2	FAM166A	9	140138683	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8237	140138683	1074748	10347	12493											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	643					1.30897e-18	1.45408e-18	1	1	0	T	140139905	G	T	140139905	3	4	22	1	0	0	0	0	1	0	0	0	5511	962	34	2	597	2	FAM166A	9	140139905	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1222	140139905	1073526	10348	12494											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	60					0.150653	0.150899	1	1	0	T	140146307	G	T	140146307	3	4	22	1	0	0	0	0	1	0	0	0	2490	991	35	2	234	2	C9orf173	9	140146307	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6402	140146307	1067124	10349	12495											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	152					0	0	1	0	0	T	140201415	C	T	140201415	3	4	22	1	0	0	0	0	1	0	0	0	5326	797	28	2	16	2	EXD3	9	140201415	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55108	140201415	1012016	10350	12496											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	269					1.15062e-32	1.35981e-32	1	1	0	A	140218237	C	A	140218237	3	1	22	1	0	0	0	0	1	0	0	0	5326	680	24	2	522	2	EXD3	9	140218237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16822	140218237	995194	10351	12497											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000342129.4_5'UTR|EXD3_ENST00000479452.1_Missense_Mutation_p.V143I|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													18	280					0	0	1	0	0	T	140267392	C	T	140267392	3	4	22	1	0	0	0	0	1	0	0	0	5326	536	19	1	2275	1	EXD3	9	140267392	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49155	140267392	946039	10352	12498											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	40					0	0	1	0	0	A	140328493	G	A	140328493	3	1	22	1	0	0	0	0	1	0	0	0	10607	1203	42	2	1306	2	NOXA1	9	140328493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61101	140328493	884938	10353	12499											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													165	876					0	0	1	0	0	T	140328737	C	T	140328737	2	4	22	1	0	0	0	0	0	0	0	1	10607	883	31	1		1	NOXA1	9	140328737	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244	140328737	884694	10354	12500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344119.2_Silent_p.P420P|ENTPD8_ENST00000472938.1_Silent_p.P457P	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													35	109					0	0	1	0	0	T	140329483	C	T	140329483	2	4	22	1	0	0	0	0	0	0	0	1	5173	639	23	1		1	ENTPD8	9	140329483	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	746	140329483	883948	10355	12501											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344119.2_Missense_Mutation_p.V261A|ENTPD8_ENST00000472938.1_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													10	40					0	0	1	0	0	G	140330977	A	G	140330977	3	3	22	1	0	0	0	0	1	0	0	0	5173	391	14	3	725	3	ENTPD8	9	140330977	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1494	140330977	882454	10356	12502											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344119.2_Silent_p.C246C|ENTPD8_ENST00000472938.1_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													13	71					0	0	1	0	0	A	140331021	G	A	140331021	2	1	22	1	0	0	0	0	0	0	0	1	5173	963	34	2		2	ENTPD8	9	140331021	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44	140331021	882410	10357	12503											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Missense_Mutation_p.A554V|PNPLA7_ENST00000277531.4_Missense_Mutation_p.A948V	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													16	336					0	0	1	0	0	A	140361890	G	A	140361890	3	1	22	1	0	0	0	0	1	0	0	0	12218	1087	38	1	1150	1	PNPLA7	9	140361890	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30869	140361890	851541	10358	12504											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371457.1_Missense_Mutation_p.R422C|PNPLA7_ENST00000277531.4_Missense_Mutation_p.R816C	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													41	253					0	0	1	0	0	A	140374823	G	A	140374823	3	1	22	1	0	0	0	0	1	0	0	0	12218	1087	38	1	1559	1	PNPLA7	9	140374823	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12933	140374823	838608	10359	12505											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371457.1_Missense_Mutation_p.R192W|PNPLA7_ENST00000277531.4_Missense_Mutation_p.R586W	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													65	332					0	0	1	0	0	A	140392624	G	A	140392624	3	1	22	1	0	0	0	0	1	0	0	0	12218	1086	38	1	2273	1	PNPLA7	9	140392624	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17801	140392624	820807	10360	12506											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371457.1_Missense_Mutation_p.S27R|PNPLA7_ENST00000277531.4_Missense_Mutation_p.S421R	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													112	571					1.99536e-56	2.497e-56	1	1	0	T	140400201	G	T	140400201	3	4	22	1	0	0	0	0	1	0	0	0	12218	1078	38	4	2778	4	PNPLA7	9	140400201	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7577	140400201	813230	10361	12507											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	347					1.16021e-09	1.22295e-09	1	1	0	T	140416117	G	T	140416117	3	4	22	1	0	0	0	0	1	0	0	0	12218	1000	35	2	3204	2	PNPLA7	9	140416117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15916	140416117	797314	10362	12508											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	272					1.21353e-23	1.38083e-23	1	1	0	T	140437993	G	T	140437993	3	4	22	1	0	0	0	0	1	0	0	0	12218	991	35	2	3751	2	PNPLA7	9	140437993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21876	140437993	775438	10363	12509											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	463					0	0	1	0	0	A	140481555	G	A	140481555	3	1	22	1	0	0	0	0	1	0	0	0	17768	1086	38	1	472	1	ZMYND19	9	140481555	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43562	140481555	731876	10364	12510											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	356					0	0	1	0	0	A	140508087	G	A	140508087	3	1	22	1	0	0	0	0	1	0	0	0	981	1291	45	2	315	2	ARRDC1	9	140508087	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26532	140508087	705344	10365	12511											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													150	607					0	0	1	0	0	A	140508784	G	A	140508784	3	1	22	1	0	0	0	0	1	0	0	0	981	1058	37	1	674	1	ARRDC1	9	140508784	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	697	140508784	704647	10366	12512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	146					0	0	1	0	0	A	140510210	G	A	140510210	3	1	22	1	0	0	0	0	1	0	0	0	2497	1057	37	1	92	1	C9orf37	9	140510210	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1426	140510210	703221	10367	12513											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334856.6_Missense_Mutation_p.R107K|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.R138K	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													78	390					0	0	1	0	0	A	140611405	G	A	140611405	3	1	22	1	0	0	0	0	1	0	0	0	5009	1000	35	2	423	2	EHMT1	9	140611405	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101195	140611405	602026	10368	12514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334856.6_Missense_Mutation_p.P646S|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.P677S	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													192	968					0	0	1	0	0	T	140672344	C	T	140672344	3	4	22	1	0	0	0	0	1	0	0	0	5009	739	26	2	2079	2	EHMT1	9	140672344	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60939	140672344	541087	10369	12515											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	266					0	0	1	0	0	T	140711975	C	T	140711975	2	4	22	1	0	0	0	0	0	0	0	1	5009	776	27	1		1	EHMT1	9	140711975	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39631	140711975	501456	10370	12516											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	247					0	0	1	0	0	T	140728842	C	T	140728842	2	4	22	1	0	0	0	0	0	0	0	1	5009	535	19	1		1	EHMT1	9	140728842	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16867	140728842	484589	10371	12517											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	112					0	0	1	0	0	A	140729348	G	A	140729348	2	1	22	1	0	0	0	0	0	0	0	1	5009	991	35	2		2	EHMT1	9	140729348	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	506	140729348	484083	10372	12518											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371355.4_Missense_Mutation_p.F254L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.F254L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F254L|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	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													18	122					4.35082e-09	4.56966e-09	1	1	0	A	140809245	C	A	140809245	3	1	22	1	0	0	0	0	1	0	0	0	2557	854	30	2	780	2	CACNA1B	9	140809245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79897	140809245	404186	10373	12519											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000277551.2_Missense_Mutation_p.A1377V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1378V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1378V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1377V|CACNA1B_ENST00000371372.1_Missense_Mutation_p.A1377V			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													57	241					0	0	1	0	0	T	140952524	C	T	140952524	3	4	22	1	0	0	0	0	1	0	0	0	2557	739	26	2	4240	2	CACNA1B	9	140952524	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143279	140952524	260907	10374	12520											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000277551.2_Intron|CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000371372.1_Intron|CACNA1B_ENST00000277549.5_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													21	82					0	0	1	0	0	T	140995616	C	T	140995616	2	4	22	1	0	0	0	0	0	0	0	1	2557	812	28	2		2	CACNA1B	9	140995616	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43092	140995616	217815	10375	12521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000277551.2_Nonsense_Mutation_p.E1935*|CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.E1936*|CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.E1934*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.E1933*|CACNA1B_ENST00000371372.1_Nonsense_Mutation_p.E1935*			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													9	62					0.000274275	0.000278163	1	1	0	T	141012423	G	T	141012423	4	4	22	1	0	0	0	0	0	1	0	0	2557	943	33	2	5969	2	CACNA1B	9	141012423	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16807	141012423	201008	10376	12522											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000277551.2_Intron|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S2172I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S2170I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S2169I|CACNA1B_ENST00000371372.1_Missense_Mutation_p.S2171I			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													54	227					7.92265e-33	9.37054e-33	1	1	0	T	141015943	G	T	141015943	3	4	22	1	0	0	0	0	1	0	0	0	2557	971	34	2	6694	2	CACNA1B	9	141015943	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3520	141015943	197488	10377	12523											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000277551.2_Silent_p.T2209T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A2273T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A2271T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A2270T|CACNA1B_ENST00000371372.1_Missense_Mutation_p.A2272T			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													13	342					0	0	1	0	0	A	141016245	G	A	141016245	3	1	22	1	0	0	0	0	1	0	0	0	2557	1087	38	1	6996	1	CACNA1B	9	141016245	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302	141016245	197186	10378	12524											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545619.1_Missense_Mutation_p.Q336R|ZMYND11_ENST00000402736.1_Missense_Mutation_p.Q425R|ZMYND11_ENST00000381602.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000535374.1_Missense_Mutation_p.Q251R|ZMYND11_ENST00000381604.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000403354.1_Missense_Mutation_p.Q376R|ZMYND11_ENST00000381591.1_Missense_Mutation_p.Q456R|ZMYND11_ENST00000397959.3_Missense_Mutation_p.Q371R|ZMYND11_ENST00000558098.2_Missense_Mutation_p.Q456R|ZMYND11_ENST00000397962.3_Missense_Mutation_p.Q456R|ZMYND11_ENST00000602682.1_Missense_Mutation_p.Q371R|ZMYND11_ENST00000381607.4_Missense_Mutation_p.Q362R|ZMYND11_ENST00000381584.1_Missense_Mutation_p.Q439R|ZMYND11_ENST00000509513.2_Missense_Mutation_p.Q455R	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													57	322					0	0	1	0	0	G	294415	A	G	294415	3	3	22	1	0	0	0	0	1	0	0	0	17764	188	7	3	1413	3	ZMYND11	10	294415	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08		294415	135240332	10379	12525											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545619.1_Intron|ZMYND11_ENST00000402736.1_Intron|ZMYND11_ENST00000535374.1_Intron|ZMYND11_ENST00000309776.4_Intron|ZMYND11_ENST00000381604.4_Intron|ZMYND11_ENST00000403354.1_Intron|ZMYND11_ENST00000381591.1_Intron|ZMYND11_ENST00000397959.3_Intron|ZMYND11_ENST00000558098.2_Missense_Mutation_p.S566I|ZMYND11_ENST00000397962.3_Intron|ZMYND11_ENST00000602682.1_Intron|ZMYND11_ENST00000381607.4_Intron|ZMYND11_ENST00000381584.1_Intron|ZMYND11_ENST00000509513.2_Missense_Mutation_p.S565I	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													47	241					1.00776e-21	1.13667e-21	1	1	0	T	295039	G	T	295039	3	4	22	1	0	0	0	0	1	0	0	0	17764	1029	36	2	1747	2	ZMYND11	10	295039	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	624	295039	135239708	10380	12526											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	229					0	0	1	0	0	A	395299	G	A	395299	2	1	22	1	0	0	0	0	0	0	0	1	4557	1074	38	1		1	DIP2C	10	395299	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100260	395299	135139448	10381	12527											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	263					0	0	1	0	0	T	395334	C	T	395334	3	4	22	1	0	0	0	0	1	0	0	0	4557	536	19	1	1676	1	DIP2C	10	395334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	395334	135139413	10382	12528											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	371					0	0	1	0	0	A	410353	G	A	410353	3	1	22	1	0	0	0	0	1	0	0	0	4557	1087	38	1	2304	1	DIP2C	10	410353	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15019	410353	135124394	10383	12529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	418					0	0	1	0	0	T	410407	C	T	410407	3	4	22	1	0	0	0	0	1	0	0	0	4557	739	26	2	2358	2	DIP2C	10	410407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54	410407	135124340	10384	12530											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	256					0	0	1	0	0	A	410494	G	A	410494	3	1	22	1	0	0	0	0	1	0	0	0	4557	1116	39	1	2445	1	DIP2C	10	410494	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87	410494	135124253	10385	12531											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	488					0	0	1	0	0	A	871234	G	A	871234	3	1	22	1	0	0	0	0	1	0	0	0	8670	1086	38	1	985	1	LARP4B	10	871234	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	460740	871234	134663513	10386	12532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000420381.1_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													58	283					0	0	1	0	0	A	1088604	G	A	1088604	2	1	22	1	0	0	0	0	0	0	0	1	7543	962	34	2		2	IDI1	10	1088604	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217370	1088604	134446143	10387	12533											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	177					0	0	1	0	0	C	1132252	G	C	1132252	3	2	22	1	0	0	0	0	1	0	0	0	17351	943	33	5	581	5	WDR37	10	1132252	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43648	1132252	134402495	10388	12534											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	244					0	0	1	0	0	T	1175231	C	T	1175231	3	4	22	1	0	0	0	0	1	0	0	0	17351	643	23	1	1482	1	WDR37	10	1175231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42979	1175231	134359516	10389	12535											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381310.3_Silent_p.L187L|ADARB2_ENST00000381305.1_Silent_p.L80L	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													41	145					0	0	1	0	0	A	1230812	G	A	1230812	2	1	22	1	0	0	0	0	0	0	0	1	282	962	34	2		2	ADARB2	10	1230812	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55581	1230812	134303935	10390	12536											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	95					0	0	1	0	0	A	1313190	G	A	1313190	2	1	22	1	0	0	0	0	0	0	0	1	282	1136	40	1		1	ADARB2	10	1313190	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82378	1313190	134221557	10391	12537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	150					0	0	1	0	0	A	1405926	G	A	1405926	3	1	22	1	0	0	0	0	1	0	0	0	282	1087	38	1	1877	1	ADARB2	10	1405926	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92736	1405926	134128821	10392	12538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Silent_p.L622L|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000224949.4_Silent_p.L720L|PITRM1_ENST00000380994.1_Silent_p.L278L	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													60	652					0	0	1	0	0	A	3189841	G	A	3189841	2	1	22	1	0	0	0	0	0	0	0	1	12001	991	35	2		2	PITRM1	10	3189841	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1783915	3189841	132344906	10393	12539											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000224949.4_Silent_p.Q590Q|PITRM1_ENST00000380994.1_Silent_p.Q148Q	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													116	567					0	0	1	0	0	T	3191914	C	T	3191914	2	4	22	1	0	0	0	0	0	0	0	1	12001	796	28	2		2	PITRM1	10	3191914	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2073	3191914	132342833	10394	12540											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000224949.4_Silent_p.P243P	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													67	313					0	0	1	0	0	T	3205979	C	T	3205979	2	4	22	1	0	0	0	0	0	0	0	1	12001	639	23	1		1	PITRM1	10	3205979	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14065	3205979	132328768	10395	12541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000224949.4_Missense_Mutation_p.Q219H	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													44	174					6.2361e-21	7.00342e-21	1	1	0	A	3206051	C	A	3206051	3	1	22	1	0	0	0	0	1	0	0	0	12001	796	28	2	2540	2	PITRM1	10	3206051	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72	3206051	132328696	10396	12542											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542957.1_Missense_Mutation_p.G206D|KLF6_ENST00000469435.1_Missense_Mutation_p.G206D|KLF6_ENST00000173785.4_Intron	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)	64	284					0	0	1	0	0	T	3823892	C	T	3823892	3	4	22	1	0	0	0	0	1	0	0	0	8393	739	26	2	246	2	KLF6	10	3823892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	617841	3823892	131710855	10397	12543											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	367					0	0	1	0	0	T	5014837	C	T	5014837	3	4	22	1	0	0	0	0	1	0	0	0	466	710	25	2	768	2	AKR1C1	10	5014837	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1190945	5014837	130519910	10398	12544											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000439082.2_Missense_Mutation_p.R182K|AKR1C3_ENST00000605149.1_Missense_Mutation_p.R278K	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													38	152					0	0	1	0	0	A	5147842	G	A	5147842	3	1	22	1	0	0	0	0	1	0	0	0	468	942	33	2	932	2	AKR1C3	10	5147842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133005	5147842	130386905	10399	12545											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	225					0	0	1	0	0	T	5247767	C	T	5247767	2	4	22	1	0	0	0	0	0	0	0	1	469	883	31	1		1	AKR1C4	10	5247767	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99925	5247767	130286980	10400	12546											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	199					0	0	1	0	0	G	5435806	T	G	5435806	3	3	22	1	0	0	0	0	1	0	0	0	16813	1493	52	3	329	3	TUBAL3	10	5435806	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	188039	5435806	130098941	10401	12547											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000484741.1_3'UTR|NET1_ENST00000380359.3_Nonsense_Mutation_p.R399*	NM_001047160.1	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													33	168					0	0	1	0	0	T	5498209	C	T	5498209	4	4	22	1	0	0	0	0	0	1	0	0	10385	876	31	1	1496	1	NET1	10	5498209	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62403	5498209	130036538	10402	12548											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5566985G>A	ENST00000315238.1	+	0	62				CALML3-AS1_ENST00000542093.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000545372.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3								calcium ion binding			endometrium(3)|lung(2)	5						CAGCAGCCGGGCTGCGGCACT	0.682													19	59					0	0	1	0	0	A	5566985	G	A	5566985	1	1	22	1	0	0	0	0	0	0	0	0	2605	1218	42	2		2	CALML3	10	5566985	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68776	5566985	129967762	10403	12549											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380132.4_Missense_Mutation_p.Y290C|GDI2_ENST00000380181.3_Missense_Mutation_p.Y241C|GDI2_ENST00000479928.1_5'UTR	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													52	205					0	0	1	0	0	C	5810310	T	C	5810310	3	2	22	1	0	0	0	0	1	0	0	0	6363	1638	57	3	496	3	GDI2	10	5810310	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	243325	5810310	129724437	10404	12550											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000470089.1_Intron|FBXO18_ENST00000397269.3_5'UTR	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													47	209					0	0	1	0	0	T	5945034	C	T	5945034	3	4	22	1	0	0	0	0	1	0	0	0	5764	797	28	2	221	2	FBXO18	10	5945034	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134724	5945034	129589713	10405	12551											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'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													22	187					0	0	1	0	0	A	5948357	G	A	5948357	3	1	22	1	0	0	0	0	1	0	0	0	5764	1116	39	1	687	1	FBXO18	10	5948357	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3323	5948357	129586390	10406	12552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536985.1_3'UTR|PFKFB3_ENST00000540253.1_Missense_Mutation_p.R532M|PFKFB3_ENST00000379785.1_3'UTR|PFKFB3_ENST00000379789.4_Missense_Mutation_p.R498M|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													25	714					3.01185e-09	3.16585e-09	1	1	0	T	6274895	G	T	6274895	3	4	22	1	0	0	0	0	1	0	0	0	11810	1000	35	2	1631	2	PFKFB3	10	6274895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	326538	6274895	129259852	10407	12553											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397176.2_Intron|PRKCQ_ENST00000539722.1_Missense_Mutation_p.P471L	NM_006257.3	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													72	287					0	0	1	0	0	A	6483904	G	A	6483904	3	1	22	1	0	0	0	0	1	0	0	0	12567	1232	43	2	345	2	PRKCQ	10	6483904	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	209009	6483904	129050843	10408	12554											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	220					0	0	1	0	0	T	7230594	C	T	7230594	2	4	22	1	0	0	0	0	0	0	0	1	14212	813	29	2		2	SFMBT2	10	7230594	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	746690	7230594	128304153	10409	12555											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	312					0	0	1	0	0	A	7244459	G	A	7244459	2	1	22	1	0	0	0	0	0	0	0	1	14212	1045	37	1		1	SFMBT2	10	7244459	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13865	7244459	128290288	10410	12556											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	266					6.3091e-27	7.28755e-27	1	1	0	T	7285598	G	T	7285598	3	4	22	1	0	0	0	0	1	0	0	0	14212	962	34	2	1694	2	SFMBT2	10	7285598	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41139	7285598	128249149	10411	12557											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	410					0	0	1	0	0	A	7326106	G	A	7326106	4	1	22	1	0	0	0	0	0	1	0	0	14212	1095	38	1	2216	1	SFMBT2	10	7326106	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40508	7326106	128208641	10412	12558											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													141	699					0	0	1	0	0	G	7605113	T	G	7605113	3	3	22	1	0	0	0	0	1	0	0	0	7951	1435	50	3	112	3	ITIH5	10	7605113	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	279007	7605113	127929634	10413	12559											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397145.2_Missense_Mutation_p.R487H|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.R273H|ITIH5_ENST00000397146.2_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													28	342					0	0	1	0	0	T	7618934	C	T	7618934	3	4	22	1	0	0	0	0	1	0	0	0	7951	768	27	1	1511	1	ITIH5	10	7618934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13821	7618934	127915813	10414	12560											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397145.2_Missense_Mutation_p.K116N|ITIH5_ENST00000397146.2_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													90	615					1.16068e-44	1.42057e-44	1	1	0	A	7682770	C	A	7682770	3	1	22	1	0	0	0	0	1	0	0	0	7951	912	32	2	2661	2	ITIH5	10	7682770	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63836	7682770	127851977	10415	12561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397145.2_Missense_Mutation_p.E110K|ITIH5_ENST00000397146.2_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													89	621					0	0	1	0	0	T	7682790	C	T	7682790	3	4	22	1	0	0	0	0	1	0	0	0	7951	893	31	1	2681	1	ITIH5	10	7682790	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	7682790	127851957	10416	12562											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397145.2_Missense_Mutation_p.A77T|ITIH5_ENST00000397146.2_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													83	367					0	0	1	0	0	T	7683960	C	T	7683960	3	4	22	1	0	0	0	0	1	0	0	0	7951	797	28	2	2784	2	ITIH5	10	7683960	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1170	7683960	127850787	10417	12563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	412					0	0	1	0	0	T	7762890	C	T	7762890	2	4	22	1	0	0	0	0	0	0	0	1	7948	883	31	1		1	ITIH2	10	7762890	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78930	7762890	127771857	10418	12564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	671					0	0	1	0	0	A	7776892	G	A	7776892	3	1	22	1	0	0	0	0	1	0	0	0	7948	1203	42	2	1853	2	ITIH2	10	7776892	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14002	7776892	127757855	10419	12565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	158					1.49673e-21	1.68722e-21	1	1	0	T	7786082	G	T	7786082	3	4	22	1	0	0	0	0	1	0	0	0	7948	962	34	2	2317	2	ITIH2	10	7786082	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9190	7786082	127748665	10420	12566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	133					2.0095e-06	2.07161e-06	1	1	0	T	7788631	G	T	7788631	3	4	22	1	0	0	0	0	1	0	0	0	7948	971	34	2	2735	2	ITIH2	10	7788631	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2549	7788631	127746116	10421	12567											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000493053.1_3'UTR|ATP5C1_ENST00000541227.1_Missense_Mutation_p.P38L|ATP5C1_ENST00000335698.4_Missense_Mutation_p.P85L	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													73	282					0	0	1	0	0	T	7840983	C	T	7840983	3	4	22	1	0	0	0	0	1	0	0	0	1148	681	24	2	268	2	ATP5C1	10	7840983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52352	7840983	127693764	10422	12568											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	488					0	0	1	0	0	T	8006790	C	T	8006790	2	4	22	1	0	0	0	0	0	0	0	1	15582	639	23	1		1	TAF3	10	8006790	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	165807	8006790	127527957	10423	12569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	110					0	0	1	0	0	A	8051129	G	A	8051129	3	1	22	1	0	0	0	0	1	0	0	0	15582	1087	38	1	2422	1	TAF3	10	8051129	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44339	8051129	127483618	10424	12570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.A395T	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)"						117	459					0	0	1	0	0	A	8115837	G	A	8115837	3	1	22	1	0	0	0	0	1	0	0	0	6295	1087	38	1	1204	1	GATA3	10	8115837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64708	8115837	127418910	10425	12571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450189.1_Missense_Mutation_p.F216S|CELF2_ENST00000537122.1_Missense_Mutation_p.F98S|CELF2_ENST00000399850.3_Missense_Mutation_p.F185S|CELF2_ENST00000315874.3_Missense_Mutation_p.F185S|CELF2_ENST00000354440.2_Missense_Mutation_p.F185S|CELF2_ENST00000416382.2_Missense_Mutation_p.F209S|CELF2_ENST00000354897.3_Missense_Mutation_p.F185S|CELF2_ENST00000417956.2_Missense_Mutation_p.F185S|CELF2_ENST00000427450.1_Missense_Mutation_p.F185S|CELF2_ENST00000542579.1_Missense_Mutation_p.F216S	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)	55	231					0	0	1	0	0	C	11312657	T	C	11312657	3	2	22	1	0	0	0	0	1	0	0	0	3238	1841	64	3	730	3	CELF2	10	11312657	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3196820	11312657	124222090	10426	12572											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450189.1_Missense_Mutation_p.T392I|CELF2_ENST00000537122.1_Missense_Mutation_p.T274I|CELF2_ENST00000399850.3_Missense_Mutation_p.T361I|CELF2_ENST00000315874.3_Missense_Mutation_p.T361I|CELF2_ENST00000354440.2_Missense_Mutation_p.T361I|CELF2_ENST00000416382.2_Missense_Mutation_p.T379I|CELF2_ENST00000354897.3_Missense_Mutation_p.T373I|CELF2_ENST00000417956.2_Missense_Mutation_p.T359I|CELF2_ENST00000427450.1_Missense_Mutation_p.T361I|CELF2_ENST00000542579.1_Missense_Mutation_p.T392I	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													78	425					0	0	1	0	0	T	11363230	C	T	11363230	3	4	22	1	0	0	0	0	1	0	0	0	3238	507	18	2	1286	2	CELF2	10	11363230	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50573	11363230	124171517	10427	12573											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11504924C>A	ENST00000379237.1	-	15	2397	c.2003G>T	c.(2002-2004)aGg>aTg	p.R668M	USP6NL_ENST00000277575.5_Missense_Mutation_p.R685M	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	668						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													26	96					7.88262e-20	8.81088e-20	1	1	0	A	11504924	C	A	11504924	3	1	22	1	0	0	0	0	1	0	0	0	17147	681	24	2	487	2	USP6NL	10	11504924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141694	11504924	124029823	10428	12574											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11523859C>T	ENST00000379237.1	-	14	1382	c.988G>A	c.(988-990)Gat>Aat	p.D330N	USP6NL_ENST00000277575.5_Missense_Mutation_p.D347N	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	330						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													15	100					0	0	1	0	0	T	11523859	C	T	11523859	3	4	22	1	0	0	0	0	1	0	0	0	17147	855	30	2	1506	2	USP6NL	10	11523859	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18935	11523859	124010888	10429	12575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_078969.2	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													44	193					0	0	1	0	0	A	11797423	G	A	11797423	3	1	22	1	0	0	0	0	1	0	0	0	4921	1116	39	1	421	1	ECHDC3	10	11797423	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	273564	11797423	123737324	10430	12576											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_078969.2	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													35	150					0	0	1	0	0	T	11805264	C	T	11805264	2	4	22	1	0	0	0	0	0	0	0	1	4921	610	22	2		2	ECHDC3	10	11805264	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7841	11805264	123729483	10431	12577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357604.5_Missense_Mutation_p.G1100S|UPF2_ENST00000397053.2_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													57	279					0	0	1	0	0	T	11984744	C	T	11984744	3	4	22	1	0	0	0	0	1	0	0	0	17064	652	23	1	540	1	UPF2	10	11984744	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179480	11984744	123550003	10432	12578											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357604.5_Missense_Mutation_p.R868C|UPF2_ENST00000397053.2_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													43	207					0	0	1	0	0	A	11997479	G	A	11997479	3	1	22	1	0	0	0	0	1	0	0	0	17064	1087	38	1	1252	1	UPF2	10	11997479	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12735	11997479	123537268	10433	12579											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357604.5_Silent_p.D370D|UPF2_ENST00000397053.2_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													90	344					0	0	1	0	0	A	12070779	G	A	12070779	2	1	22	1	0	0	0	0	0	0	0	1	17064	1252	44	2		2	UPF2	10	12070779	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73300	12070779	123463968	10434	12580											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000495368.1_3'UTR|SEC61A2_ENST00000304267.8_Missense_Mutation_p.A184T|SEC61A2_ENST00000379020.4_Missense_Mutation_p.A184T|SEC61A2_ENST00000298428.9_Missense_Mutation_p.A184T	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													208	910					0	0	1	0	0	A	12197864	G	A	12197864	3	1	22	1	0	0	0	0	1	0	0	0	14055	1319	46	2	576	2	SEC61A2	10	12197864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127085	12197864	123336883	10435	12581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000495368.1_3'UTR|SEC61A2_ENST00000304267.8_Missense_Mutation_p.D406N|SEC61A2_ENST00000379020.4_Missense_Mutation_p.D340N|SEC61A2_ENST00000298428.9_Missense_Mutation_p.D406N	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													162	669					0	0	1	0	0	A	12204260	G	A	12204260	3	1	22	1	0	0	0	0	1	0	0	0	14055	942	33	2	1258	2	SEC61A2	10	12204260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6396	12204260	123330487	10436	12582											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000487696.1_3'UTR|CAMK1D_ENST00000378845.1_Missense_Mutation_p.K77N	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													77	357					7.427e-35	8.84747e-35	1	1	0	T	12708741	G	T	12708741	3	4	22	1	0	0	0	0	1	0	0	0	2615	962	34	2	241	2	CAMK1D	10	12708741	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	504481	12708741	122826006	10437	12583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	185					0	0	1	0	0	T	12858268	C	T	12858268	2	4	22	1	0	0	0	0	0	0	0	1	2615	506	18	2		2	CAMK1D	10	12858268	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149527	12858268	122676479	10438	12584											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	231					1.20869e-33	1.43362e-33	1	1	0	A	13246275	C	A	13246275	4	1	22	1	0	0	0	0	0	1	0	0	9435	518	18	2	2478	2	MCM10	10	13246275	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	388007	13246275	122288472	10439	12585											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	135					0	0	1	0	0	G	13276255	T	G	13276255	3	3	22	1	0	0	0	0	1	0	0	0	16986	1667	58	3	432	3	UCMA	10	13276255	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29980	13276255	122258492	10440	12586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000263038.4_Missense_Mutation_p.A283T|PHYH_ENST00000396913.2_Missense_Mutation_p.A183T			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													52	219					0	0	1	0	0	T	13323092	C	T	13323092	3	4	22	1	0	0	0	0	1	0	0	0	11912	768	27	1	177	1	PHYH	10	13323092	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46837	13323092	122211655	10441	12587											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000263038.4_Missense_Mutation_p.T169M|PHYH_ENST00000396913.2_Missense_Mutation_p.T69M			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													14	366					0	0	1	0	0	A	13330532	G	A	13330532	3	1	22	1	0	0	0	0	1	0	0	0	11912	1145	40	1	526	1	PHYH	10	13330532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7440	13330532	122204215	10442	12588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000486542.1_5'UTR|BEND7_ENST00000396900.2_Silent_p.I396I|BEND7_ENST00000396898.2_Silent_p.I409I|BEND7_ENST00000378605.3_Silent_p.I357I	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													54	436					0	0	1	0	0	A	13489312	G	A	13489312	2	1	22	1	0	0	0	0	0	0	0	1	1401	1048	37	1		1	BEND7	10	13489312	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158780	13489312	122045435	10443	12589											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396898.2_Missense_Mutation_p.L66M|BEND7_ENST00000378605.3_Missense_Mutation_p.L14M	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													167	758					2.0813e-75	2.65401e-75	1	1	0	T	13542030	G	T	13542030	3	4	22	1	0	0	0	0	1	0	0	0	1401	962	34	2	1445	2	BEND7	10	13542030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52718	13542030	121992717	10444	12590											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	212					0	0	1	0	0	A	13639487	G	A	13639487	2	1	22	1	0	0	0	0	0	0	0	1	12615	962	34	2		2	PRPF18	10	13639487	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97457	13639487	121895260	10445	12591											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	101					5.18039e-06	5.32547e-06	1	1	0	A	13698655	C	A	13698655	3	1	22	1	0	0	0	0	1	0	0	0	6086	912	32	2	197	2	FRMD4A	10	13698655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59168	13698655	121836092	10446	12592											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	92					0	0	1	0	0	A	13699307	G	A	13699307	3	1	22	1	0	0	0	0	1	0	0	0	6086	1116	39	1	849	1	FRMD4A	10	13699307	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	652	13699307	121835440	10447	12593											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	196					0	0	1	0	0	A	13699468	G	A	13699468	2	1	22	1	0	0	0	0	0	0	0	1	6086	1252	44	2		2	FRMD4A	10	13699468	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	13699468	121835279	10448	12594											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378503.1_Missense_Mutation_p.V282A|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000342409.2_Missense_Mutation_p.V298A|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													79	391					0	0	1	0	0	G	13743470	A	G	13743470	3	3	22	1	0	0	0	0	1	0	0	0	6086	159	6	3	2318	3	FRMD4A	10	13743470	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44002	13743470	121791277	10449	12595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													171	670					0	0	1	0	0	A	14816459	G	A	14816459	2	1	22	1	0	0	0	0	0	0	0	1	5421	1078	38	1		1	FAM107B	10	14816459	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1072989	14816459	120718288	10450	12596											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378325.3_Intron|DCLRE1C_ENST00000378289.4_3'UTR|SUV39H2_ENST00000354919.6_Missense_Mutation_p.F276V	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													93	363					0	0	1	0	0	G	14939493	T	G	14939493	3	3	22	1	0	0	0	0	1	0	0	0	15469	1841	64	3	648	3	SUV39H2	10	14939493	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	123034	14939493	120595254	10451	12597	79	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378325.3_Intron|DCLRE1C_ENST00000378289.4_3'UTR|SUV39H2_ENST00000354919.6_Missense_Mutation_p.M278T	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													74	374					0	0	1	0	0	C	14939500	T	C	14939500	3	2	22	1	0	0	0	0	1	0	0	0	15469	1464	51	3	655	3	SUV39H2	10	14939500	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7	14939500	120595247	10452	12598	79	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451677.1_Intron|RPP38_ENST00000378202.5_Silent_p.G116G|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													61	225					0	0	1	0	0	T	15145661	C	T	15145661	2	4	22	1	0	0	0	0	0	0	0	1	13665	755	27	1		1	RPP38	10	15145661	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206161	15145661	120389086	10453	12599											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Nonsense_Mutation_p.R339*|NMT2_ENST00000535341.1_Nonsense_Mutation_p.R339*|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													69	314					0	0	1	0	0	A	15161458	G	A	15161458	4	1	22	1	0	0	0	0	0	1	0	0	10551	1066	37	1	458	1	NMT2	10	15161458	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15797	15161458	120373289	10454	12600											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Silent_p.V212V|NMT2_ENST00000535341.1_Silent_p.V212V|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													57	471					0	0	1	0	0	A	15174860	G	A	15174860	2	1	22	1	0	0	0	0	0	0	0	1	10551	1045	37	1		1	NMT2	10	15174860	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13402	15174860	120359887	10455	12601											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003629.1	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													24	611					0	0	1	0	0	A	15573078	G	A	15573078	3	1	22	1	0	0	0	0	1	0	0	0	7926	1203	42	2	250	2	ITGA8	10	15573078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	398218	15573078	119961669	10456	12602											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003629.1	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													71	357					0	0	1	0	0	A	15697376	G	A	15697376	2	1	22	1	0	0	0	0	0	0	0	1	7926	1045	37	1		1	ITGA8	10	15697376	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124298	15697376	119837371	10457	12603											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003629.1	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													111	450					2.2287e-75	2.84182e-75	1	1	0	T	15729956	G	T	15729956	3	4	22	1	0	0	0	0	1	0	0	0	7926	971	34	2	2878	2	ITGA8	10	15729956	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32580	15729956	119804791	10458	12604											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	498					0	0	1	0	0	C	16556570	T	C	16556570	3	2	22	1	0	0	0	0	1	0	0	0	1973	1725	60	3	46	3	C1QL3	10	16556570	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	826614	16556570	118978177	10459	12605											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	394					8.14536e-31	9.57012e-31	1	1	0	T	16556588	G	T	16556588	3	4	22	1	0	0	0	0	1	0	0	0	1973	1203	42	2	64	2	C1QL3	10	16556588	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18	16556588	118978159	10460	12606											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	155					0	0	1	0	0	T	16562739	C	T	16562739	3	4	22	1	0	0	0	0	1	0	0	0	1973	739	26	2	449	2	C1QL3	10	16562739	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6151	16562739	118972008	10461	12607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	299					0	0	1	0	0	C	16877056	A	C	16877056	3	2	22	1	0	0	0	0	1	0	0	0	4074	72	3	3	568	3	CUBN	10	16877056	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	314317	16877056	118657691	10462	12608											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	341					0	0	1	0	0	G	16877137	T	G	16877137	3	3	22	1	0	0	0	0	1	0	0	0	4074	1435	50	3	649	3	CUBN	10	16877137	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81	16877137	118657610	10463	12609											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	237					2.40265e-35	2.8676e-35	1	1	0	A	16878269	C	A	16878269	3	1	22	1	0	0	0	0	1	0	0	0	4074	913	32	2	746	2	CUBN	10	16878269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1132	16878269	118656478	10464	12610											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	292					6.86016e-32	8.08805e-32	1	1	0	T	16946075	G	T	16946075	3	4	22	1	0	0	0	0	1	0	0	0	4074	1000	35	2	2987	2	CUBN	10	16946075	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67806	16946075	118588672	10465	12611											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	238					0	0	1	0	0	T	16949516	C	T	16949516	3	4	22	1	0	0	0	0	1	0	0	0	4074	835	29	2	3251	2	CUBN	10	16949516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3441	16949516	118585231	10466	12612											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	152					0	0	1	0	0	G	17113893	A	G	17113893	2	3	22	1	0	0	0	0	0	0	0	1	4074	156	6	3		3	CUBN	10	17113893	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	164377	17113893	118420854	10467	12613	80	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	161					0	0	1	0	0	A	17113900	G	A	17113900	3	1	22	1	0	0	0	0	1	0	0	0	4074	1029	36	2	8699	2	CUBN	10	17113900	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7	17113900	118420847	10468	12614	80	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	277					0	0	1	0	0	T	17171244	C	T	17171244	3	4	22	1	0	0	0	0	1	0	0	0	4074	884	31	1	11007	1	CUBN	10	17171244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57344	17171244	118363503	10469	12615											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000452380.2_5'UTR|TRDMT1_ENST00000412821.3_Missense_Mutation_p.R67I|TRDMT1_ENST00000351358.4_Missense_Mutation_p.R67I|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000457442.2_Intron|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000358282.7_Intron	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													17	99					8.28177e-16	9.06825e-16	1	1	0	A	17210891	C	A	17210891	3	1	22	1	0	0	0	0	1	0	0	0	16528	913	32	2	1011	2	TRDMT1	10	17210891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39647	17210891	118323856	10470	12616											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	281					0	0	1	0	0	G	17276772	A	G	17276772	2	3	22	1	0	0	0	0	0	0	0	1	17226	272	10	3		3	VIM	10	17276772	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65881	17276772	118257975	10471	12617											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	263					3.53049e-34	4.19639e-34	1	1	0	A	17277377	C	A	17277377	2	1	22	1	0	0	0	0	0	0	0	1	17226	755	27	4		4	VIM	10	17277377	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	605	17277377	118257370	10472	12618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	233					6.05902e-23	6.8732e-23	1	1	0	T	17636234	G	T	17636234	3	4	22	1	0	0	0	0	1	0	0	0	12824	942	33	2	120	2	PTPLA	10	17636234	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	358857	17636234	117898513	10473	12619											
PTPLA	9200	broad.mit.edu	37	chr10	17636369	17636370	+	Frame_Shift_Ins	INS	-	-	A													ccaacaggatataagatgatINSaaaaaaattatatctggaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17636369_17636370insA	ENST00000361271.3	-	6	655_656	c.618_619insT	c.(616-621)tttcatfs	p.H207fs		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	207					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						TATAAGATGATAAAAAAATTAT	0.312													30	203	---	---	---	---						A	17636370	-	A	17636369	7	5	22	1	0	1	1	0	0	0	0	0	12824	1406	49	0	255	0	PTPLA	10	17636369	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	135	17636369	117898378	10474	12620											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	433					0	0	1	0	0	T	17730057	C	T	17730057	3	4	22	1	0	0	0	0	1	0	0	0	15304	797	28	2	347	2	STAM	10	17730057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93688	17730057	117804690	10475	12621											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	575					0	0	1	0	0	G	17747711	A	G	17747711	3	3	22	1	0	0	0	0	1	0	0	0	15304	449	16	3	1226	3	STAM	10	17747711	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17654	17747711	117787036	10476	12622											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	438					0	0	1	0	0	A	17750861	G	A	17750861	2	1	22	1	0	0	0	0	0	0	0	1	15304	1103	39	1		1	STAM	10	17750861	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3150	17750861	117783886	10477	12623											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377371.3_Silent_p.L148L|SLC39A12_ENST00000377374.4_Silent_p.L148L|SLC39A12_ENST00000539911.1_Silent_p.L14L	NM_001145195.1	NP_001138667.1	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													64	294					0	0	1	0	0	T	18250690	C	T	18250690	2	4	22	1	0	0	0	0	0	0	0	1	14670	564	20	2		2	SLC39A12	10	18250690	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	499829	18250690	117284057	10478	12624											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377371.3_Missense_Mutation_p.D515N|SLC39A12_ENST00000377374.4_Missense_Mutation_p.D479N|SLC39A12_ENST00000539911.1_Missense_Mutation_p.D382N	NM_001145195.1	NP_001138667.1	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													51	221					0	0	1	0	0	A	18284597	G	A	18284597	3	1	22	1	0	0	0	0	1	0	0	0	14670	942	33	2	1580	2	SLC39A12	10	18284597	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33907	18284597	117250150	10479	12625											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377328.1_Intron|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000282343.8_Missense_Mutation_p.K274Q|CACNB2_ENST00000377329.4_Missense_Mutation_p.K248Q|CACNB2_ENST00000352115.6_Missense_Mutation_p.K278Q|CACNB2_ENST00000377315.4_Missense_Mutation_p.K254Q|CACNB2_ENST00000377331.2_Missense_Mutation_p.K250Q|CACNB2_ENST00000324631.7_Missense_Mutation_p.K302Q|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													107	509					0	0	1	0	0	C	18807857	A	C	18807857	3	2	22	1	0	0	0	0	1	0	0	0	2571	15	1	3	1248	3	CACNB2	10	18807857	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	523260	18807857	116726890	10480	12626											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377328.1_Intron|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000282343.8_Missense_Mutation_p.P363H|CACNB2_ENST00000377329.4_Missense_Mutation_p.P337H|CACNB2_ENST00000352115.6_Missense_Mutation_p.P367H|CACNB2_ENST00000377315.4_Missense_Mutation_p.P343H|CACNB2_ENST00000377331.2_Missense_Mutation_p.P339H|CACNB2_ENST00000324631.7_Missense_Mutation_p.P391H|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													106	581					1.47424e-42	1.79587e-42	1	1	0	A	18823122	C	A	18823122	3	1	22	1	0	0	0	0	1	0	0	0	2571	681	24	2	1524	2	CACNB2	10	18823122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15265	18823122	116711625	10481	12627											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377328.1_Missense_Mutation_p.R281H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000282343.8_Missense_Mutation_p.R503H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R477H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R507H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R483H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R479H|CACNB2_ENST00000324631.7_Missense_Mutation_p.R531H|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													53	252					0	0	1	0	0	A	18828262	G	A	18828262	3	1	22	1	0	0	0	0	1	0	0	0	2571	1087	38	1	1956	1	CACNB2	10	18828262	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5140	18828262	116706485	10482	12628											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377328.1_Missense_Mutation_p.R383H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000282343.8_Missense_Mutation_p.R605H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R579H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R609H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R585H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R581H|CACNB2_ENST00000324631.7_Missense_Mutation_p.R633H|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													68	375					0	0	1	0	0	A	18828568	G	A	18828568	3	1	22	1	0	0	0	0	1	0	0	0	2571	1087	38	1	2262	1	CACNB2	10	18828568	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	306	18828568	116706179	10483	12629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:20290821C>T	ENST00000377252.3	+	2	1071	c.230C>T	c.(229-231)aCg>aTg	p.T77M	PLXDC2_ENST00000377242.3_Missense_Mutation_p.T77M	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	77						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													39	159					0	0	1	0	0	T	20290821	C	T	20290821	3	4	22	1	0	0	0	0	1	0	0	0	12166	536	19	1	236	1	PLXDC2	10	20290821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1462253	20290821	115243926	10484	12630											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:20432253C>T	ENST00000377252.3	+	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_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	191						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													86	436					0	0	1	0	0	T	20432253	C	T	20432253	4	4	22	1	0	0	0	0	0	1	0	0	12166	876	31	1	589	1	PLXDC2	10	20432253	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141432	20432253	115102494	10485	12631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.N75H	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													58	273					0	0	1	0	0	G	21178809	T	G	21178809	3	3	22	1	0	0	0	0	1	0	0	0	10350	1841	64	3	2925	3	NEBL	10	21178809	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	746556	21178809	114355938	10486	12632											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	291					0	0	1	0	0	T	21309118	C	T	21309118	2	4	22	1	0	0	0	0	0	0	0	1	10350	796	28	2		2	NEBL	10	21309118	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130309	21309118	114225629	10487	12633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								93	284					0	0	1	0	0	C	21962743	T	C	21962743	3	2	22	1	0	0	0	0	1	0	0	0	9674	1435	50	3	1554	3	MLLT10	10	21962743	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	653625	21962743	113572004	10488	12634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								102	579					0	0	1	0	0	T	22019972	C	T	22019972	3	4	22	1	0	0	0	0	1	0	0	0	9674	565	20	2	2321	2	MLLT10	10	22019972	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57229	22019972	113514775	10489	12635											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								61	261					0	0	1	0	0	C	22022979	T	C	22022979	3	2	22	1	0	0	0	0	1	0	0	0	9674	1667	58	3	2905	3	MLLT10	10	22022979	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3007	22022979	113511768	10490	12636											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													124	502					0	0	1	0	0	T	22048251	C	T	22048251	3	4	22	1	0	0	0	0	1	0	0	0	4655	893	31	1	228	1	DNAJC1	10	22048251	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25272	22048251	113486496	10491	12637											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	497					0	0	1	0	0	C	22048286	T	C	22048286	3	2	22	1	0	0	0	0	1	0	0	0	4655	1667	58	3	263	3	DNAJC1	10	22048286	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35	22048286	113486461	10492	12638											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	304					1.12612e-26	1.29957e-26	1	1	0	A	22618434	C	A	22618434	4	1	22	1	0	0	0	0	0	1	0	0	1454	838	29	2	978	2	BMI1	10	22618434	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	570148	22618434	112916313	10493	12639											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000313311.6_Missense_Mutation_p.L317I|SPAG6_ENST00000538630.1_Missense_Mutation_p.L292I|SPAG6_ENST00000376624.3_Missense_Mutation_p.L317I|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													24	227					6.36457e-07	6.58826e-07	1	1	0	A	22678185	C	A	22678185	3	1	22	1	0	0	0	0	1	0	0	0	15038	797	28	2	975	2	SPAG6	10	22678185	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59751	22678185	112856562	10494	12640											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000490361.1_3'UTR|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000313311.6_Intron|SPAG6_ENST00000538630.1_Missense_Mutation_p.R423Q|SPAG6_ENST00000376624.3_Missense_Mutation_p.R448Q|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													48	227					0	0	1	0	0	A	22699988	G	A	22699988	3	1	22	1	0	0	0	0	1	0	0	0	15038	1058	37	1	1381	1	SPAG6	10	22699988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21803	22699988	112834759	10495	12641											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	224					0.00621372	0.0062537	1	1	0	A	23003205	C	A	23003205	3	1	22	1	0	0	0	0	1	0	0	0	11984	912	32	2	1209	2	PIP4K2A	10	23003205	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	303217	23003205	112531542	10496	12642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23287078G>A	ENST00000298032.5	+	11	1261	c.1175_splice	c.e11-1	p.A393_splice	ARMC3_ENST00000409983.3_Splice_Site_p.A393_splice|ARMC3_ENST00000376528.4_Splice_Site_p.A130_splice|ARMC3_ENST00000409049.3_Splice_Site_p.A393_splice	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													24	111					0	0	1	0	0	A	23287078	G	A	23287078	5	1	22	1	0	0	0	0	0	0	1	0	951	1101	38	1	1215	1	ARMC3	10	23287078	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	283873	23287078	112247669	10497	12643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409983.3_Missense_Mutation_p.A419G|ARMC3_ENST00000376528.4_Missense_Mutation_p.A156G|ARMC3_ENST00000409049.3_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													22	85					0	0	1	0	0	G	23287157	C	G	23287157	3	3	22	1	0	0	0	0	1	0	0	0	951	797	28	5	1294	5	ARMC3	10	23287157	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79	23287157	112247590	10498	12644											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409983.3_Missense_Mutation_p.A462D|ARMC3_ENST00000376528.4_Missense_Mutation_p.A199D|ARMC3_ENST00000409049.3_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													23	113					4.26978e-12	4.57227e-12	1	1	0	A	23287286	C	A	23287286	3	1	22	1	0	0	0	0	1	0	0	0	951	797	28	2	1423	2	ARMC3	10	23287286	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129	23287286	112247461	10499	12645											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409983.3_Missense_Mutation_p.A745T|ARMC3_ENST00000376528.4_Missense_Mutation_p.A489T	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													27	136					0	0	1	0	0	A	23321797	G	A	23321797	3	1	22	1	0	0	0	0	1	0	0	0	951	971	34	2	2320	2	ARMC3	10	23321797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34511	23321797	112212950	10500	12646											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409983.3_Missense_Mutation_p.R810C|ARMC3_ENST00000376528.4_Missense_Mutation_p.R554C	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													75	329					0	0	1	0	0	T	23326238	C	T	23326238	3	4	22	1	0	0	0	0	1	0	0	0	951	884	31	1	2519	1	ARMC3	10	23326238	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4441	23326238	112208509	10501	12647											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	112					0	0	1	0	0	C	23409785	A	C	23409785	3	2	22	1	0	0	0	0	1	0	0	0	9936	40	2	3	561	3	MSRB2	10	23409785	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	83547	23409785	112124962	10502	12648											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	307					0	0	1	0	0	T	23481479	A	T	23481479	3	4	22	1	0	0	0	0	1	0	0	0	12789	304	11	5	22	5	PTF1A	10	23481479	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	71694	23481479	112053268	10503	12649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376462.1_5'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.V32A|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													30	114					0	0	1	0	0	C	24508579	T	C	24508579	3	2	22	1	0	0	0	0	1	0	0	0	8258	1638	57	3	101	3	KIAA1217	10	24508579	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1027100	24508579	111026168	10504	12650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Silent_p.K488K|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376451.2_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000430453.2_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													55	252					0	0	1	0	0	G	24783453	A	G	24783453	2	3	22	1	0	0	0	0	0	0	0	1	8258	40	2	3		3	KIAA1217	10	24783453	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	274874	24783453	110751294	10505	12651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396446.1_Missense_Mutation_p.A515V|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A752V|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A797V|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A797V|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A515V|KIAA1217_ENST00000376454.3_Missense_Mutation_p.A832V|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A515V|KIAA1217_ENST00000430453.2_Intron			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													19	409					0	0	1	0	0	T	24813290	C	T	24813290	3	4	22	1	0	0	0	0	1	0	0	0	8258	739	26	2	2545	2	KIAA1217	10	24813290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29837	24813290	110721457	10506	12652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396446.1_Silent_p.G751G|KIAA1217_ENST00000376462.1_Silent_p.G988G|KIAA1217_ENST00000458595.1_Silent_p.G1033G|KIAA1217_ENST00000376452.3_Silent_p.G1032G|KIAA1217_ENST00000307544.6_Silent_p.G751G|KIAA1217_ENST00000376454.3_Silent_p.G1068G|KIAA1217_ENST00000396445.1_Silent_p.G751G			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													21	202					0	0	1	0	0	T	24820880	C	T	24820880	2	4	22	1	0	0	0	0	0	0	0	1	8258	755	27	1		1	KIAA1217	10	24820880	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7590	24820880	110713867	10507	12653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.Q1412*|KIAA1217_ENST00000396445.1_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													54	258					0	0	1	0	0	T	24832433	C	T	24832433	4	4	22	1	0	0	0	0	0	1	0	0	8258	479	17	2	4308	2	KIAA1217	10	24832433	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11553	24832433	110702314	10508	12654											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	362					0	0	1	0	0	C	24880606	A	C	24880606	3	2	22	1	0	0	0	0	1	0	0	0	868	188	7	3	1883	3	ARHGAP21	10	24880606	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48173	24880606	110654141	10509	12655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	489					0	0	1	0	0	A	24880896	G	A	24880896	4	1	22	1	0	0	0	0	0	1	0	0	868	1066	37	1	1974	1	ARHGAP21	10	24880896	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	290	24880896	110653851	10510	12656											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.A809T	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													112	464					0	0	1	0	0	T	24889643	C	T	24889643	3	4	22	1	0	0	0	0	1	0	0	0	868	739	26	2	2864	2	ARHGAP21	10	24889643	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8747	24889643	110645104	10511	12657											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	253					0	0	1	0	0	A	24909750	G	A	24909750	2	1	22	1	0	0	0	0	0	0	0	1	868	932	33	2		2	ARHGAP21	10	24909750	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20107	24909750	110624997	10512	12658											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	450					6.40141e-05	6.5221e-05	1	1	0	A	24909977	C	A	24909977	3	1	22	1	0	0	0	0	1	0	0	0	868	913	32	2	5101	2	ARHGAP21	10	24909977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227	24909977	110624770	10513	12659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	249					0	0	1	0	0	T	24910055	C	T	24910055	3	4	22	1	0	0	0	0	1	0	0	0	868	478	17	2	5179	2	ARHGAP21	10	24910055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78	24910055	110624692	10514	12660											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	255					0	0	1	0	0	A	25273753	G	A	25273753	3	1	22	1	0	0	0	0	1	0	0	0	5148	1116	39	1	102	1	ENKUR	10	25273753	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	363698	25273753	110260994	10515	12661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	488					0	0	1	0	0	T	25886972	C	T	25886972	3	4	22	1	0	0	0	0	1	0	0	0	6703	507	18	2	2459	2	GPR158	10	25886972	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	613219	25886972	109647775	10516	12662											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	346					0	0	1	0	0	T	25887906	C	T	25887906	2	4	22	1	0	0	0	0	0	0	0	1	6703	767	27	1		1	GPR158	10	25887906	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	934	25887906	109646841	10517	12663											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543632.1_Silent_p.P189P|MYO3A_ENST00000376302.1_Silent_p.P189P|MYO3A_ENST00000376301.1_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													56	290					0	0	1	0	0	A	26305807	G	A	26305807	2	1	22	1	0	0	0	0	0	0	0	1	10124	1132	40	1		1	MYO3A	10	26305807	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	417901	26305807	109228940	10518	12664											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	165					0	0	1	0	0	T	26432413	A	T	26432413	3	4	22	1	0	0	0	0	1	0	0	0	10124	449	16	5	2373	5	MYO3A	10	26432413	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	126606	26432413	109102334	10519	12665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	99					0	0	1	0	0	T	26443677	C	T	26443677	2	4	22	1	0	0	0	0	0	0	0	1	10124	755	27	1		1	MYO3A	10	26443677	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11264	26443677	109091070	10520	12666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	320					0	0	1	0	0	G	26462912	A	G	26462912	3	3	22	1	0	0	0	0	1	0	0	0	10124	391	14	3	3829	3	MYO3A	10	26462912	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19235	26462912	109071835	10521	12667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	63					0	0	1	0	0	A	26490219	G	A	26490219	3	1	22	1	0	0	0	0	1	0	0	0	10124	942	33	2	4693	2	MYO3A	10	26490219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27307	26490219	109044528	10522	12668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	772					0	0	1	0	0	T	26559594	C	T	26559594	3	4	22	1	0	0	0	0	1	0	0	0	6215	739	26	2	1039	2	GAD2	10	26559594	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69375	26559594	108975153	10523	12669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	641					6.12954e-19	6.81806e-19	1	1	0	A	26569946	C	A	26569946	3	1	22	1	0	0	0	0	1	0	0	0	6215	913	32	2	1212	2	GAD2	10	26569946	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10352	26569946	108964801	10524	12670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376160.1_Missense_Mutation_p.E3K|ABI1_ENST00000490841.2_Missense_Mutation_p.E3K|ABI1_ENST00000359188.4_Missense_Mutation_p.E3K|ABI1_ENST00000376138.3_Missense_Mutation_p.E3K|ABI1_ENST00000376134.3_Missense_Mutation_p.E3K|ABI1_ENST00000376170.4_Missense_Mutation_p.E3K|ABI1_ENST00000376139.2_Missense_Mutation_p.E3K|ABI1_ENST00000536334.1_Missense_Mutation_p.E3K|ABI1_ENST00000376142.2_Missense_Mutation_p.E3K|ABI1_ENST00000376137.4_Missense_Mutation_p.E3K|ABI1_ENST00000376166.1_Missense_Mutation_p.E3K|ABI1_ENST00000376140.3_Missense_Mutation_p.E3K|ABI1_ENST00000346832.5_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													14	404					0	0	1	0	0	T	27149786	C	T	27149786	3	4	22	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	10525	12671											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436985.2_Silent_p.T1377T|ANKRD26_ENST00000376070.3_Silent_p.T918T	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													27	147					0	0	1	0	0	C	27313378	A	C	27313378	2	2	22	1	0	0	0	0	0	0	0	1	650	175	7	3		3	ANKRD26	10	27313378	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	163592	27313378	108221369	10526	12672											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436985.2_Silent_p.V1370V|ANKRD26_ENST00000376070.3_Silent_p.V911V	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													31	162					0	0	1	0	0	G	27313399	A	G	27313399	2	3	22	1	0	0	0	0	0	0	0	1	650	117	5	3		3	ANKRD26	10	27313399	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21	27313399	108221348	10527	12673											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	206					0	0	1	0	0	T	27382725	C	T	27382725	2	4	22	1	0	0	0	0	0	0	0	1	650	639	23	1		1	ANKRD26	10	27382725	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69326	27382725	108152022	10528	12674											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000477432.1_Missense_Mutation_p.E86K|YME1L1_ENST00000375972.3_Intron	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													9	44					0	0	1	0	0	T	27436510	C	T	27436510	3	4	22	1	0	0	0	0	1	0	0	0	17547	864	30	2	2137	2	YME1L1	10	27436510	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53785	27436510	108098237	10529	12675											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000477034.1_3'UTR|MASTL_ENST00000375940.4_Missense_Mutation_p.D405N|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													92	431					0	0	1	0	0	A	27459101	G	A	27459101	3	1	22	1	0	0	0	0	1	0	0	0	9378	1174	41	2	1243	2	MASTL	10	27459101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22591	27459101	108075646	10530	12676											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000476758.1_5'UTR|ACBD5_ENST00000375888.1_Silent_p.I449I|ACBD5_ENST00000375897.3_Silent_p.I263I|ACBD5_ENST00000375905.4_Silent_p.I405I|ACBD5_ENST00000375901.1_Silent_p.I331I	NM_145698.3	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													60	664					0	0	1	0	0	A	27497259	G	A	27497259	2	1	22	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	10531	12677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	340					0	0	1	0	0	C	27692284	A	C	27692284	3	2	22	1	0	0	0	0	1	0	0	0	12783	14	1	3	1097	3	PTCHD3	10	27692284	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	195025	27692284	107842463	10532	12678											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	459					0	0	1	0	0	T	27964176	C	T	27964176	2	4	22	1	0	0	0	0	0	0	0	1	9658	755	27	1		1	MKX	10	27964176	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271892	27964176	107570571	10533	12679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545014.1_Nonsense_Mutation_p.E296*|ARMC4_ENST00000537576.1_Nonsense_Mutation_p.E463*	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													18	412					1.67942e-08	1.75525e-08	1	1	0	A	28224123	C	A	28224123	4	1	22	1	0	0	0	0	0	1	0	0	952	922	32	2	843	2	ARMC4	10	28224123	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	259947	28224123	107310624	10534	12680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	615					0	0	1	0	0	A	28345483	G	A	28345483	3	1	22	1	0	0	0	0	1	0	0	0	9788	1087	38	1	261	1	MPP7	10	28345483	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121360	28345483	107189264	10535	12681											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28878735G>A	ENST00000375664.3	+	5	926	c.317G>A	c.(316-318)cGa>cAa	p.R106Q	WAC_ENST00000375646.1_Missense_Mutation_p.R106Q|WAC_ENST00000354911.4_Missense_Mutation_p.R151Q|WAC_ENST00000347934.4_Missense_Mutation_p.R151Q|WAC_ENST00000428935.1_Missense_Mutation_p.R106Q			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	151					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													72	322					0	0	1	0	0	A	28878735	G	A	28878735	3	1	22	1	0	0	0	0	1	0	0	0	17307	1058	37	1	470	1	WAC	10	28878735	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	533252	28878735	106656012	10536	12682											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28878779A>C	ENST00000375664.3	+	5	970	c.362_splice	c.e5+1	p.R121_splice	WAC_ENST00000375646.1_Splice_Site_p.R121_splice|WAC_ENST00000354911.4_Splice_Site_p.R166_splice|WAC_ENST00000347934.4_Splice_Site_p.R166_splice|WAC_ENST00000428935.1_Splice_Site_p.R121_splice			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	166					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													54	218					0	0	1	0	0	C	28878779	A	C	28878779	5	2	22	1	0	0	0	0	0	0	1	0	17307	86	3	3	514	3	WAC	10	28878779	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44	28878779	106655968	10537	12683											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28897207A>G	ENST00000375664.3	+	8	1486	c.877A>G	c.(877-879)Aca>Gca	p.T293A	WAC_ENST00000375646.1_Missense_Mutation_p.T190A|WAC_ENST00000354911.4_Missense_Mutation_p.T338A|WAC_ENST00000347934.4_Missense_Mutation_p.T235A|WAC_ENST00000428935.1_Missense_Mutation_p.T293A			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	338					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													50	414					0	0	1	0	0	G	28897207	A	G	28897207	3	3	22	1	0	0	0	0	1	0	0	0	17307	43	2	3	1042	3	WAC	10	28897207	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18428	28897207	106637540	10538	12684											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	389					0	0	1	0	0	T	28970438	C	T	28970438	3	4	22	1	0	0	0	0	1	0	0	0	1304	710	25	2	334	2	BAMBI	10	28970438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73231	28970438	106564309	10539	12685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	289					0	0	1	0	0	T	28970998	C	T	28970998	3	4	22	1	0	0	0	0	1	0	0	0	1304	643	23	1	461	1	BAMBI	10	28970998	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	560	28970998	106563749	10540	12686											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PTCHD3P1_ENST00000445521.1_RNA|SVIL_ENST00000375400.3_Silent_p.P1599P|SVIL_ENST00000355867.4_Silent_p.P2025P|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Silent_p.P939P|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													45	225					1.61004e-24	1.84098e-24	1	1	0	T	29754582	G	T	29754582	2	4	22	1	0	0	0	0	0	0	0	1	15477	987	35	2		2	SVIL	10	29754582	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	783584	29754582	105780165	10541	12687											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375400.3_Silent_p.A1380A|SVIL_ENST00000355867.4_Silent_p.A1806A|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Silent_p.A720A|SVIL_ENST00000460007.1_5'UTR|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													26	140					0	0	1	0	0	A	29762878	G	A	29762878	2	1	22	1	0	0	0	0	0	0	0	1	15477	1103	39	1		1	SVIL	10	29762878	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8296	29762878	105771869	10542	12688											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538146.1_Silent_p.I541I|SVIL_ENST00000375400.3_Silent_p.I1323I|SVIL_ENST00000355867.4_Silent_p.I1749I|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Silent_p.I663I|SVIL_ENST00000460007.1_5'UTR|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													97	439					0	0	1	0	0	A	29769596	G	A	29769596	2	1	22	1	0	0	0	0	0	0	0	1	15477	1280	45	2		2	SVIL	10	29769596	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6718	29769596	105765151	10543	12689											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538146.1_Missense_Mutation_p.R148C|SVIL_ENST00000375400.3_Missense_Mutation_p.R930C|SVIL_ENST00000355867.4_Missense_Mutation_p.R1356C|SVIL_ENST00000535393.1_Missense_Mutation_p.R270C			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													44	210					0	0	1	0	0	A	29779902	G	A	29779902	3	1	22	1	0	0	0	0	1	0	0	0	15477	1087	38	1	2646	1	SVIL	10	29779902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10306	29779902	105754845	10544	12690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	331					0	0	1	0	0	A	30315241	G	A	30315241	3	1	22	1	0	0	0	0	1	0	0	0	8276	1203	42	2	251	2	KIAA1462	10	30315241	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	535339	30315241	105219506	10545	12691											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													157	510					0	0	1	0	0	A	30315768	G	A	30315768	2	1	22	1	0	0	0	0	0	0	0	1	8276	1164	41	2		2	KIAA1462	10	30315768	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	527	30315768	105218979	10546	12692											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	461					0	0	1	0	0	T	30316752	C	T	30316752	2	4	22	1	0	0	0	0	0	0	0	1	8276	871	31	1		1	KIAA1462	10	30316752	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	984	30316752	105217995	10547	12693											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	262					0	0	1	0	0	T	30316881	C	T	30316881	2	4	22	1	0	0	0	0	0	0	0	1	8276	755	27	1		1	KIAA1462	10	30316881	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129	30316881	105217866	10548	12694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	715					3.51602e-12	3.76992e-12	1	1	0	A	30317361	C	A	30317361	3	1	22	1	0	0	0	0	1	0	0	0	8276	912	32	2	2371	2	KIAA1462	10	30317361	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	480	30317361	105217386	10549	12695											
KIAA1462	57608	broad.mit.edu	37	chr10	30317872	30317872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggagcccctgaggcaagCgggggctcacaccatactca	14	14	2	1	rs78646257	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30317872C>T	ENST00000375377.1	-	3	1306	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	402	Pro-rich.									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						CTGAGGCAAGCGGGGGCTCAC	0.587													121	544					0	0	1	0	0	T	30317872	C	T	30317872	3	4	22	1	0	0	0	0	1	0	0	0	8276	768	27	1	2882	1	KIAA1462	10	30317872	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	511	30317872	105216875	10550	12696											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000263063.3_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													35	119					0	0	1	0	0	A	30611535	G	A	30611535	3	1	22	1	0	0	0	0	1	0	0	0	10004	1377	48	2	760	2	MTPAP	10	30611535	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	293663	30611535	104923212	10551	12697											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000263063.3_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													12	839					0	0	1	0	0	G	30615489	A	G	30615489	3	3	22	1	0	0	0	0	1	0	0	0	10004	275	10	3	912	3	MTPAP	10	30615489	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3954	30615489	104919258	10552	12698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30629378C>T	ENST00000358107.4	-	4	721	c.720_splice	c.e4-1	p.G241_splice	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Splice_Site_p.G111_splice			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													60	312					0	0	1	0	0	T	30629378	C	T	30629378	5	4	22	1	0	0	0	0	0	0	1	0	10004	521	18	2	1444	2	MTPAP	10	30629378	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13889	30629378	104905369	10553	12699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542547.1_Silent_p.S338S|MAP3K8_ENST00000375321.1_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													19	206					0	0	1	0	0	T	30747153	C	T	30747153	2	4	22	1	0	0	0	0	0	0	0	1	9306	668	24	2		2	MAP3K8	10	30747153	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117775	30747153	104787594	10554	12700											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:31138175G>A	ENST00000375311.1	-	0	664				ZNF438_ENST00000442986.1_Missense_Mutation_p.R387W|ZNF438_ENST00000413025.1_Missense_Mutation_p.R387W|ZNF438_ENST00000452305.1_Missense_Mutation_p.R377W|ZNF438_ENST00000538351.1_Missense_Mutation_p.R338W|ZNF438_ENST00000444692.2_Missense_Mutation_p.R377W|ZNF438_ENST00000361310.3_Missense_Mutation_p.R387W|ZNF438_ENST00000331737.6_Missense_Mutation_p.R377W|ZNF438_ENST00000436087.2_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													119	509					0	0	1	0	0	A	31138175	G	A	31138175	1	1	22	1	0	0	0	0	0	0	0	0	17967	1144	40	1		1	ZNF438	10	31138175	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	391022	31138175	104396572	10555	12701											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361642.5_Missense_Mutation_p.Q679H|ZEB1_ENST00000560721.2_Missense_Mutation_p.Q658H|ZEB1_ENST00000542815.3_Missense_Mutation_p.Q611H|ZEB1_ENST00000320985.10_Missense_Mutation_p.Q678H|ZEB1_ENST00000559858.1_3'UTR	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													60	265					0	0	1	0	0	C	31810297	A	C	31810297	3	2	22	1	0	0	0	0	1	0	0	0	17681	11	1	3	2074	3	ZEB1	10	31810297	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	672122	31810297	103724450	10556	12702											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361642.5_Silent_p.Y984Y|ZEB1_ENST00000560721.2_Silent_p.Y963Y|ZEB1_ENST00000542815.3_Silent_p.Y916Y|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													62	220					0	0	1	0	0	T	31815766	C	T	31815766	2	4	22	1	0	0	0	0	0	0	0	1	17681	576	20	2		2	ZEB1	10	31815766	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5469	31815766	103718981	10557	12703											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375245.4_Missense_Mutation_p.Q611H|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.Q663H|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.Q611H	NM_001270696.1	NP_001257625.1	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													45	296					1.17673e-23	1.33956e-23	1	1	0	A	32099638	C	A	32099638	3	1	22	1	0	0	0	0	1	0	0	0	862	912	32	2	571	2	ARHGAP12	10	32099638	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	283872	32099638	103435109	10558	12704											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								35	199					0	0	1	0	0	C	32320176	T	C	32320176	3	2	22	1	0	0	0	0	1	0	0	0	8348	1493	52	3	1533	3	KIF5B	10	32320176	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	220538	32320176	103214571	10559	12705											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001272019.1	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													144	649					2.39625e-65	3.03e-65	1	1	0	T	32560500	G	T	32560500	3	4	22	1	0	0	0	0	1	0	0	0	5188	942	33	2	98	2	EPC1	10	32560500	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	240324	32560500	102974247	10560	12706											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001272019.1	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													172	818					0	0	1	0	0	A	32560597	G	A	32560597	4	1	22	1	0	0	0	0	0	1	0	0	5188	1153	40	1	195	1	EPC1	10	32560597	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97	32560597	102974150	10561	12707											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000263062.8_Missense_Mutation_p.S2G|AL391839.1_ENST00000410377.1_RNA|EPC1_ENST00000480402.1_5'UTR|RP11-135A24.4_ENST00000412085.1_RNA|EPC1_ENST00000375110.2_Intron	NM_001272004.1|NM_001272019.1	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													61	240					0	0	1	0	0	C	32635840	T	C	32635840	3	2	22	1	0	0	0	0	1	0	0	0	5188	1551	54	3	2566	3	EPC1	10	32635840	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	75243	32635840	102898907	10562	12708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375025.4_Missense_Mutation_p.R64M|C10orf68_ENST00000375028.3_Missense_Mutation_p.R78M			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													33	142					5.8336e-16	6.39204e-16	1	1	0	T	32978017	G	T	32978017	3	4	22	1	0	0	0	0	1	0	0	0	1617	1000	35	2	201	2	C10orf68	10	32978017	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	342177	32978017	102556730	10563	12709											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375025.4_Nonsense_Mutation_p.Q103*|C10orf68_ENST00000375028.3_Intron			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													24	107					0	0	1	0	0	T	32983848	C	T	32983848	4	4	22	1	0	0	0	0	0	1	0	0	1617	827	29	2	321	2	C10orf68	10	32983848	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5831	32983848	102550899	10564	12710											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	240					0	0	1	0	0	T	33113457	C	T	33113457	4	4	22	1	0	0	0	0	0	1	0	0	1617	528	19	1	1048	1	C10orf68	10	33113457	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129609	33113457	102421290	10565	12711											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375025.4_Missense_Mutation_p.T510I|C10orf68_ENST00000375028.3_Missense_Mutation_p.T450I			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													30	177					0	0	1	0	0	T	33135307	C	T	33135307	3	4	22	1	0	0	0	0	1	0	0	0	1617	565	20	2	1395	2	C10orf68	10	33135307	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21850	33135307	102399440	10566	12712											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000265371.4_Intron|NRP1_ENST00000374867.2_Intron|NRP1_ENST00000374823.5_Intron|NRP1_ENST00000395995.1_Intron|NRP1_ENST00000374821.5_Intron|NRP1_ENST00000374822.4_Intron|NRP1_ENST00000466932.1_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													28	176					0	0	1	0	0	A	33495125	G	A	33495125	3	1	22	1	0	0	0	0	1	0	0	0	10708	1102	38	1		1	NRP1	10	33495125	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	359818	33495125	102039622	10567	12713											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374816.3_Nonsense_Mutation_p.R506*|NRP1_ENST00000374867.2_Nonsense_Mutation_p.R506*|NRP1_ENST00000374823.5_Nonsense_Mutation_p.R506*|NRP1_ENST00000395995.1_Nonsense_Mutation_p.R506*|NRP1_ENST00000374821.5_Nonsense_Mutation_p.R506*|NRP1_ENST00000374822.4_Nonsense_Mutation_p.R506*|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000466932.1_5'UTR			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													165	730					0	0	1	0	0	A	33502412	G	A	33502412	4	1	22	1	0	0	0	0	0	1	0	0	10708	1124	39	1	1302	1	NRP1	10	33502412	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7287	33502412	102032335	10568	12714											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374794.3_Missense_Mutation_p.A1228V|PARD3_ENST00000545260.1_Missense_Mutation_p.A1250V|PARD3_ENST00000545693.1_Missense_Mutation_p.A1324V|PARD3_ENST00000374788.3_Missense_Mutation_p.A1337V|PARD3_ENST00000346874.4_Missense_Mutation_p.A1303V|PARD3_ENST00000350537.4_Missense_Mutation_p.A1294V|PARD3_ENST00000374790.3_Missense_Mutation_p.A1280V	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													72	297					0	0	1	0	0	A	34400149	G	A	34400149	3	1	22	1	0	0	0	0	1	0	0	0	11490	1087	38	1	55	1	PARD3	10	34400149	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	897737	34400149	101134598	10569	12715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374794.3_Missense_Mutation_p.S541Y|PARD3_ENST00000544292.1_Missense_Mutation_p.S315Y|PARD3_ENST00000545260.1_Missense_Mutation_p.S541Y|PARD3_ENST00000374773.1_Missense_Mutation_p.S598Y|PARD3_ENST00000374768.1_Missense_Mutation_p.S36Y|PARD3_ENST00000545693.1_Missense_Mutation_p.S585Y|PARD3_ENST00000340077.5_Missense_Mutation_p.S598Y|PARD3_ENST00000374788.3_Missense_Mutation_p.S598Y|PARD3_ENST00000346874.4_Missense_Mutation_p.S598Y|PARD3_ENST00000350537.4_Missense_Mutation_p.S585Y|PARD3_ENST00000374790.3_Missense_Mutation_p.S541Y|PARD3_ENST00000374776.1_Missense_Mutation_p.S585Y	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													9	524					1.12685e-05	1.15515e-05	1	1	0	T	34649102	G	T	34649102	3	4	22	1	0	0	0	0	1	0	0	0	11490	942	33	2	2364	2	PARD3	10	34649102	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	248953	34649102	100885645	10570	12716											
PARD3	56288	broad.mit.edu	37	chr10	34671501	34671501	+	Frame_Shift_Del	DEL	T	T	-													gatattaagcctcttgcctaTttttttggtgttataaccac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34671501delT	ENST00000374789.3	-	9	1691	c.1366delA	c.(1366-1368)tafs	p.I456fs	PARD3_ENST00000374794.3_Frame_Shift_Del_p.I412fs|PARD3_ENST00000374776.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000544292.1_Frame_Shift_Del_p.I186fs|PARD3_ENST00000340077.5_Frame_Shift_Del_p.I456fs|PARD3_ENST00000346874.4_Frame_Shift_Del_p.I456fs|PARD3_ENST00000350537.4_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374773.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374788.3_Frame_Shift_Del_p.I456fs|PARD3_ENST00000545693.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000545260.1_Frame_Shift_Del_p.I412fs|PARD3_ENST00000374790.3_Frame_Shift_Del_p.I412fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	456					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)				CTCTTGCCTATTTTTTTGGTG	0.433													8	729	---	---	---	---						-	34671501	T	-	34671501	7	5	22	1	0	1	0	1	0	0	0	0	11490	1493	52	0	2807	0	PARD3	10	34671501	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	22399	34671501	100863246	10571	12717											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374794.3_Missense_Mutation_p.D60N|PARD3_ENST00000545260.1_Missense_Mutation_p.D60N|PARD3_ENST00000374773.1_Missense_Mutation_p.D60N|PARD3_ENST00000545693.1_Missense_Mutation_p.D60N|PARD3_ENST00000340077.5_Missense_Mutation_p.D60N|PARD3_ENST00000374788.3_Missense_Mutation_p.D60N|PARD3_ENST00000346874.4_Missense_Mutation_p.D60N|PARD3_ENST00000350537.4_Missense_Mutation_p.D60N|PARD3_ENST00000374790.3_Missense_Mutation_p.D60N|PARD3_ENST00000374776.1_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													154	822					0	0	1	0	0	T	34985290	C	T	34985290	3	4	22	1	0	0	0	0	1	0	0	0	11490	913	32	2	4023	2	PARD3	10	34985290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	313789	34985290	100549457	10572	12718											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35841947G>A	ENST00000374704.4	+	8	760	c.579_splice	c.e8-1	p.V194_splice	CCNY_ENST00000374706.1_Splice_Site_p.V140_splice|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Splice_Site_p.V140_splice|CCNY_ENST00000339497.5_Splice_Site_p.V169_splice	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													81	337					0	0	1	0	0	A	35841947	G	A	35841947	5	1	22	1	0	0	0	0	0	0	1	0	2958	1275	44	2	610	2	CCNY	10	35841947	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	856657	35841947	99692800	10573	12719											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374706.1_Missense_Mutation_p.I161T|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Missense_Mutation_p.I161T|CCNY_ENST00000339497.5_Missense_Mutation_p.I190T	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													105	406					0	0	1	0	0	C	35842011	T	C	35842011	3	2	22	1	0	0	0	0	1	0	0	0	2958	1493	52	3	674	3	CCNY	10	35842011	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64	35842011	99692736	10574	12720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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		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													66	283					0	0	1	0	0	A	35896742	G	A	35896742	3	1	22	1	0	0	0	0	1	0	0	0	6461	971	34	2	307	2	GJD4	10	35896742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54731	35896742	99638005	10575	12721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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		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													16	135					3.32936e-07	3.45006e-07	1	1	0	T	35897020	G	T	35897020	3	4	22	1	0	0	0	0	1	0	0	0	6461	933	33	2	585	2	GJD4	10	35897020	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278	35897020	99637727	10576	12722											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	141					0	0	1	0	0	A	35929026	G	A	35929026	2	1	22	1	0	0	0	0	0	0	0	1	6171	1103	39	1		1	FZD8	10	35929026	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32006	35929026	99605721	10577	12723											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	85					0	0	1	0	0	A	35929686	G	A	35929686	2	1	22	1	0	0	0	0	0	0	0	1	6171	1074	38	1		1	FZD8	10	35929686	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	660	35929686	99605061	10578	12724											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361713.1_Missense_Mutation_p.D504G|ANKRD30A_ENST00000602533.1_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													41	193					0	0	1	0	0	G	37441021	A	G	37441021	3	3	22	1	0	0	0	0	1	0	0	0	654	275	10	3	1557	3	ANKRD30A	10	37441021	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1511335	37441021	98093726	10579	12725											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361713.1_Silent_p.F824F|ANKRD30A_ENST00000602533.1_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													64	667					0	0	1	0	0	T	37486234	C	T	37486234	2	4	22	1	0	0	0	0	0	0	0	1	654	883	31	1		1	ANKRD30A	10	37486234	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45213	37486234	98048513	10580	12726											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	730					0	0	1	0	0	G	38241882	T	G	38241882	3	3	22	1	0	0	0	0	1	0	0	0	17852	1493	52	3	830	3	ZNF25	10	38241882	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	755648	38241882	97292865	10581	12727											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000432900.2_Missense_Mutation_p.K217N|ZNF33A_ENST00000307441.9_Missense_Mutation_p.K210N|ZNF33A_ENST00000458705.2_Missense_Mutation_p.K210N	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													63	363					4.45325e-31	5.23636e-31	1	1	0	T	38343685	G	T	38343685	3	4	22	1	0	0	0	0	1	0	0	0	17911	933	33	2	647	2	ZNF33A	10	38343685	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101803	38343685	97191062	10582	12728											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000432900.2_Missense_Mutation_p.C561Y|ZNF33A_ENST00000307441.9_Missense_Mutation_p.C554Y|ZNF33A_ENST00000458705.2_Missense_Mutation_p.C554Y	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													135	505					0	0	1	0	0	A	38344716	G	A	38344716	3	1	22	1	0	0	0	0	1	0	0	0	17911	1377	48	2	1678	2	ZNF33A	10	38344716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1031	38344716	97190031	10583	12729											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38403694G>A	ENST00000351773.3	+	6	857	c.27G>A	c.(25-27)tcG>tcA	p.S9S	ZNF37A_ENST00000479469.1_3'UTR|ZNF37A_ENST00000361085.4_Silent_p.S9S	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	9	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													106	448					0	0	1	0	0	A	38403694	G	A	38403694	2	1	22	1	0	0	0	0	0	0	0	1	17929	1132	40	1		1	ZNF37A	10	38403694	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58978	38403694	97131053	10584	12730											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38406336G>T	ENST00000351773.3	+	8	1087	c.257G>T	c.(256-258)aGa>aTa	p.R86I	ZNF37A_ENST00000361085.4_Missense_Mutation_p.R86I	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	86						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													65	313					8.52622e-23	9.66497e-23	1	1	0	T	38406336	G	T	38406336	3	4	22	1	0	0	0	0	1	0	0	0	17929	942	33	2	271	2	ZNF37A	10	38406336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2642	38406336	97128411	10585	12731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38407455G>A	ENST00000351773.3	+	8	2206	c.1376G>A	c.(1375-1377)aGa>aAa	p.R459K	ZNF37A_ENST00000361085.4_Missense_Mutation_p.R459K	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	459						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													51	241					0	0	1	0	0	A	38407455	G	A	38407455	3	1	22	1	0	0	0	0	1	0	0	0	17929	942	33	2	1390	2	ZNF37A	10	38407455	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1119	38407455	97127292	10586	12732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	340					2.64105e-45	3.2384e-45	1	1	0	A	43088932	C	A	43088932	3	1	22	1	0	0	0	0	1	0	0	0	17912	913	32	2	874	2	ZNF33B	10	43088932	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4681477	43088932	92445815	10587	12733											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	404					0	0	1	0	0	G	43088961	A	G	43088961	2	3	22	1	0	0	0	0	0	0	0	1	17912	273	10	3		3	ZNF33B	10	43088961	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29	43088961	92445786	10588	12734											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43315745G>A	ENST00000374518.4	+	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	881					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													144	604					0	0	1	0	0	A	43315745	G	A	43315745	3	1	22	1	0	0	0	0	1	0	0	0	1471	1058	37	1	2700	1	BMS1	10	43315745	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	226784	43315745	92219002	10589	12735											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				50	260					0	0	1	0	0	T	43596002	C	T	43596002	3	4	22	1	0	0	0	0	1	0	0	0	13287	759	27	1	175	1	RET	10	43596002	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	280257	43596002	91938745	10590	12736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				18	139					1.99824e-07	2.07512e-07	1	1	0	A	43601943	C	A	43601943	3	1	22	1	0	0	0	0	1	0	0	0	13287	854	30	2	1005	2	RET	10	43601943	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5941	43601943	91932804	10591	12737											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				31	797					2.61193e-14	2.83483e-14	1	1	0	A	43612162	C	A	43612162	3	1	22	1	0	0	0	0	1	0	0	0	13287	739	26	2	2313	2	RET	10	43612162	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10219	43612162	91922585	10592	12738											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				25	144					0	0	1	0	0	T	43613844	C	T	43613844	4	4	22	1	0	0	0	0	0	1	0	0	13287	760	27	1	2358	1	RET	10	43613844	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1682	43613844	91920903	10593	12739											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				43	280					0	0	1	0	0	T	43615116	C	T	43615116	3	4	22	1	0	0	0	0	1	0	0	0	13287	759	27	1	2584	1	RET	10	43615116	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1272	43615116	91919631	10594	12740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				127	652					0	0	1	0	0	T	43623580	C	T	43623580	3	4	22	1	0	0	0	0	1	0	0	0	13287	739	26	2	3318	2	RET	10	43623580	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8464	43623580	91911167	10595	12741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	246					0	0	1	0	0	T	43650877	C	T	43650877	3	4	22	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	10596	12742											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	229					0	0	1	0	0	T	43650908	C	T	43650908	3	4	22	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	10597	12743											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	431					0	0	1	0	0	T	43691985	C	T	43691985	3	4	22	1	0	0	0	0	1	0	0	0	13121	768	27	1	93	1	RASGEF1A	10	43691985	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41077	43691985	91842762	10598	12744											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	89					0	0	1	0	0	A	43694616	G	A	43694616	2	1	22	1	0	0	0	0	0	0	0	1	13121	1306	46	2		2	RASGEF1A	10	43694616	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2631	43694616	91840131	10599	12745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356053.3_Missense_Mutation_p.A300V|HNRNPF_ENST00000357065.4_Missense_Mutation_p.A300V|HNRNPF_ENST00000544000.1_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													59	260					0	0	1	0	0	A	43882434	G	A	43882434	3	1	22	1	0	0	0	0	1	0	0	0	7306	1087	38	1	352	1	HNRNPF	10	43882434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	187818	43882434	91652313	10600	12746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356053.3_Silent_p.G277G|HNRNPF_ENST00000357065.4_Silent_p.G277G|HNRNPF_ENST00000544000.1_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													40	173					0	0	1	0	0	A	43882502	G	A	43882502	2	1	22	1	0	0	0	0	0	0	0	1	7306	1074	38	1		1	HNRNPF	10	43882502	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68	43882502	91652245	10601	12747											
ZNF239	0	broad.mit.edu	37	chr10	44052679	44052679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttttcgcctgtatggacGgcatgatggatgagcagact	14	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44052679G>A	ENST00000306006.6	-	2	1501	c.849C>T	c.(847-849)gcC>gcT	p.A283A	ZNF239_ENST00000426961.1_Silent_p.A283A|ZNF239_ENST00000535642.1_Silent_p.A283A|ZNF239_ENST00000374446.2_Silent_p.A283A	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	283					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						CTGTATGGACGGCATGATGGA	0.498													138	617					0	0	1	0	0	A	44052679	G	A	44052679	2	1	22	1	0	0	0	0	0	0	0	1	17849	1103	39	1		1	ZNF239	10	44052679	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	170177	44052679	91482068	10602	12748											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535642.1_Missense_Mutation_p.Q142H|ZNF239_ENST00000374446.2_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													62	373					9.16383e-17	1.00836e-16	1	1	0	A	44053102	C	A	44053102	3	1	22	1	0	0	0	0	1	0	0	0	17849	564	20	2	954	2	ZNF239	10	44053102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423	44053102	91481645	10603	12749											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535642.1_Silent_p.L25L|ZNF239_ENST00000374446.2_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													7	240					0	0	1	0	0	A	44053455	G	A	44053455	2	1	22	1	0	0	0	0	0	0	0	1	17849	1020	36	2		2	ZNF239	10	44053455	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	353	44053455	91481292	10604	12750											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374437.2_Missense_Mutation_p.R143I|ZNF485_ENST00000374435.3_Missense_Mutation_p.R234I	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													64	261					3.13296e-38	3.77304e-38	1	1	0	T	44112192	G	T	44112192	3	4	22	1	0	0	0	0	1	0	0	0	17995	942	33	2	715	2	ZNF485	10	44112192	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58737	44112192	91422555	10605	12751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Silent_p.L260L|ZNF32-AS3_ENST00000458063.1_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													41	163					0	0	1	0	0	A	44139542	G	A	44139542	2	1	22	1	0	0	0	0	0	0	0	1	17895	933	33	2		2	ZNF32	10	44139542	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27350	44139542	91395205	10606	12752											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Silent_p.G248G|ZNF32-AS3_ENST00000458063.1_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													7	228					0	0	1	0	0	A	44139576	G	A	44139576	2	1	22	1	0	0	0	0	0	0	0	1	17895	1190	42	2		2	ZNF32	10	44139576	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	44139576	91395171	10607	12753											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44141643C>A	ENST00000395797.1	-	0	127				ZNF32_ENST00000485351.1_5'UTR|ZNF32_ENST00000374433.2_De_novo_Start_InFrame|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS2_ENST00000418966.1_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													15	75					1.05317e-09	1.11087e-09	1	1	0	A	44141643	C	A	44141643	1	1	22	1	0	0	0	0	0	0	0	0	17895	696	24	2		2	ZNF32	10	44141643	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2067	44141643	91393104	10608	12754											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536058.1_Silent_p.S285S|OR13A1_ENST00000374401.2_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													52	276					0	0	1	0	0	A	45799016	G	A	45799016	2	1	22	1	0	0	0	0	0	0	0	1	10981	1078	38	1		1	OR13A1	10	45799016	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1657373	45799016	89735731	10609	12755											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536058.1_Missense_Mutation_p.R183H|OR13A1_ENST00000374401.2_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													77	307					0	0	1	0	0	T	45799323	C	T	45799323	3	4	22	1	0	0	0	0	1	0	0	0	10981	768	27	1	442	1	OR13A1	10	45799323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	307	45799323	89735424	10610	12756											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	66					0	0	1	0	0	A	45939272	G	A	45939272	3	1	22	1	0	0	0	0	1	0	0	0	536	1203	42	2	1716	2	ALOX5	10	45939272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139949	45939272	89595475	10611	12757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537517.1_Missense_Mutation_p.S617F|FAM21C_ENST00000374362.2_Missense_Mutation_p.S641F	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													61	242					0	0	1	0	0	T	46264949	C	T	46264949	3	4	22	1	0	0	0	0	1	0	0	0	5574	913	32	2	2000	2	FAM21C	10	46264949	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325677	46264949	89269798	10612	12758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	770					0	0	1	0	0	T	46322028	C	T	46322028	3	4	22	1	0	0	0	0	1	0	0	0	369	739	26	2	668	2	AGAP4	10	46322028	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57079	46322028	89212719	10613	12759											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46962105C>A	ENST00000374323.3	-	7	1877	c.1290G>T	c.(1288-1290)caG>caT	p.Q430H	RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_Intron|SYT15_ENST00000374321.4_Missense_Mutation_p.Q377H|SYT15_ENST00000374325.3_Intron			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	377						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGCCCAGCTGCTGGCTCTCTG	0.652													17	241					9.16793e-09	9.60025e-09	1	1	0	A	46962105	C	A	46962105	3	1	22	1	0	0	0	0	1	0	0	0	15528	796	28	2	192	2	SYT15	10	46962105	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	640077	46962105	88572642	10614	12760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	463					0	0	1	0	0	C	46999004	A	C	46999004	3	2	22	1	0	0	0	0	1	0	0	0	6771	275	10	3	126	3	GPRIN2	10	46999004	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36899	46999004	88535743	10615	12761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	190					0	0	1	0	0	A	46999231	G	A	46999231	3	1	22	1	0	0	0	0	1	0	0	0	6771	1319	46	2	353	2	GPRIN2	10	46999231	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227	46999231	88535516	10616	12762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	169					0	0	1	0	0	A	46999326	G	A	46999326	3	1	22	1	0	0	0	0	1	0	0	0	6771	971	34	2	448	2	GPRIN2	10	46999326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95	46999326	88535421	10617	12763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	570					3.41278e-10	3.61262e-10	1	1	0	A	46999982	C	A	46999982	3	1	22	1	0	0	0	0	1	0	0	0	6771	912	32	2	1104	2	GPRIN2	10	46999982	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	656	46999982	88534765	10618	12764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449464.2_3'UTR|ANXA8L2_ENST00000340243.6_Missense_Mutation_p.R196K|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													60	224					0	0	1	0	0	A	47756730	G	A	47756730	3	1	22	1	0	0	0	0	1	0	0	0	720	942	33	2	674	2	ANXA8L2	10	47756730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	756748	47756730	87778017	10619	12765											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000586537.1_Silent_p.E68E|ZNF488_ENST00000494156.1_3'UTR			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													79	317					0	0	1	0	0	A	48371057	G	A	48371057	2	1	22	1	0	0	0	0	0	0	0	1	17997	962	34	2		2	ZNF488	10	48371057	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	614327	48371057	87163690	10620	12766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	278					1.3612e-06	1.40558e-06	1	1	0	T	48389870	G	T	48389870	2	4	22	1	0	0	0	0	0	0	0	1	13209	1161	41	2		2	RBP3	10	48389870	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18813	48389870	87144877	10621	12767											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	589					0	0	1	0	0	T	48390460	C	T	48390460	3	4	22	1	0	0	0	0	1	0	0	0	13209	623	22	2	3341	2	RBP3	10	48390460	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	590	48390460	87144287	10622	12768											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	370					0	0	1	0	0	A	48413908	G	A	48413908	2	1	22	1	0	0	0	0	0	0	0	1	6356	1078	38	1		1	GDF2	10	48413908	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23448	48413908	87120839	10623	12769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	347					0	0	1	0	0	A	48428790	G	A	48428790	3	1	22	1	0	0	0	0	1	0	0	0	6353	1115	39	1	348	1	GDF10	10	48428790	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14882	48428790	87105957	10624	12770											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	156					0	0	1	0	0	A	48429256	G	A	48429256	2	1	22	1	0	0	0	0	0	0	0	1	6353	1277	45	2		2	GDF10	10	48429256	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	466	48429256	87105491	10625	12771											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000305531.3_Missense_Mutation_p.A1160S|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000407470.4_Missense_Mutation_p.A1153S	NM_001018071.3	NP_001018081.3	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													110	584					6.33484e-38	7.62105e-38	1	1	0	A	49371699	C	A	49371699	3	1	22	1	0	0	0	0	1	0	0	0	6093	797	28	2	384	2	FRMPD2	10	49371699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	942443	49371699	86163048	10626	12772											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49446033C>T	ENST00000374201.3	-	8	1224		c.e8+1		FRMPD2_ENST00000305531.3_Splice_Site|FRMPD2_ENST00000407470.4_Splice_Site	NM_001018071.3	NP_001018081.3	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													165	697					0	0	1	0	0	T	49446033	C	T	49446033	5	4	22	1	0	0	0	0	0	0	1	0	6093	521	18	2	3095	2	FRMPD2	10	49446033	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74334	49446033	86088714	10627	12773											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49612896G>A	ENST00000374189.1	+	3	305	c.122_splice	c.e3-1	p.A42_splice	MAPK8_ENST00000360332.3_Splice_Site_p.A42_splice|MAPK8_ENST00000374174.1_Splice_Site_p.A42_splice|MAPK8_ENST00000395611.3_Splice_Site_p.A42_splice|MAPK8_ENST00000374182.3_Splice_Site_p.A42_splice			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													44	257					0	0	1	0	0	A	49612896	G	A	49612896	5	1	22	1	0	0	0	0	0	0	1	0	9333	1101	38	1	130	1	MAPK8	10	49612896	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166863	49612896	85921851	10628	12774											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360332.3_Missense_Mutation_p.V371G|MAPK8_ENST00000459755.1_3'UTR|MAPK8_ENST00000395611.3_Missense_Mutation_p.V295G|MAPK8_ENST00000374182.3_Missense_Mutation_p.V371G			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													8	176					0	0	1	0	0	G	49639287	T	G	49639287	3	3	22	1	0	0	0	0	1	0	0	0	9333	1725	60	3	1226	3	MAPK8	10	49639287	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26391	49639287	85895460	10629	12775											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.R31C	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													35	184					0	0	1	0	0	A	50122110	G	A	50122110	3	1	22	1	0	0	0	0	1	0	0	0	9019	1087	38	1	702	1	LRRC18	10	50122110	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	482823	50122110	85412637	10630	12776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	187					0	0	1	0	0	T	50531186	C	T	50531186	3	4	22	1	0	0	0	0	1	0	0	0	1618	623	22	2	598	2	C10orf71	10	50531186	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	409076	50531186	85003561	10631	12777											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	354					0	0	1	0	0	T	50574348	C	T	50574348	3	4	22	1	0	0	0	0	1	0	0	0	4789	768	27	1	189	1	DRGX	10	50574348	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43162	50574348	84960399	10632	12778											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	84					0	0	1	0	0	T	50599296	A	T	50599296	3	4	22	1	0	0	0	0	1	0	0	0	4789	72	3	5	764	5	DRGX	10	50599296	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24948	50599296	84935451	10633	12779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					118	610					0	0	1	0	0	T	50678905	C	T	50678905	3	4	22	1	0	0	0	0	1	0	0	0	5245	710	25	2	1396	2	ERCC6	10	50678905	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79609	50678905	84855842	10634	12780											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	550					0	0	1	0	0	T	50819143	C	T	50819143	2	4	22	1	0	0	0	0	0	0	0	1	14482	767	27	1		1	SLC18A3	10	50819143	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140238	50819143	84715604	10635	12781											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	126					0	0	1	0	0	C	50819427	T	C	50819427	3	2	22	1	0	0	0	0	1	0	0	0	14482	1580	55	3	643	3	SLC18A3	10	50819427	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	284	50819427	84715320	10636	12782											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	197					0	0	1	0	0	A	50820002	G	A	50820002	3	1	22	1	0	0	0	0	1	0	0	0	14482	1087	38	1	1218	1	SLC18A3	10	50820002	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	575	50820002	84714745	10637	12783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000337653.2_Silent_p.D344D|CHAT_ENST00000339797.1_Silent_p.D226D|CHAT_ENST00000395559.2_Silent_p.D226D|CHAT_ENST00000455728.2_Silent_p.D226D|CHAT_ENST00000351556.3_Silent_p.D226D	NM_001142933.1|NM_001142934.1	NP_001136405.1|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													129	516					0	0	1	0	0	T	50835752	C	T	50835752	2	4	22	1	0	0	0	0	0	0	0	1	3335	535	19	1		1	CHAT	10	50835752	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15750	50835752	84698995	10638	12784											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000337653.2_Missense_Mutation_p.S414I|CHAT_ENST00000339797.1_Missense_Mutation_p.S296I|CHAT_ENST00000395559.2_Missense_Mutation_p.S296I|CHAT_ENST00000455728.2_Missense_Mutation_p.S296I|CHAT_ENST00000351556.3_Missense_Mutation_p.S296I	NM_001142933.1|NM_001142934.1	NP_001136405.1|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													54	257					6.14515e-18	6.80267e-18	1	1	0	T	50854680	G	T	50854680	3	4	22	1	0	0	0	0	1	0	0	0	3335	971	34	2	1315	2	CHAT	10	50854680	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18928	50854680	84680067	10639	12785											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000337653.2_Missense_Mutation_p.L539I|CHAT_ENST00000339797.1_Missense_Mutation_p.L421I|CHAT_ENST00000395559.2_Missense_Mutation_p.L421I|CHAT_ENST00000455728.2_Missense_Mutation_p.L421I|CHAT_ENST00000351556.3_Missense_Mutation_p.L421I	NM_001142933.1|NM_001142934.1	NP_001136405.1|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													11	180					3.86212e-05	3.93988e-05	1	1	0	A	50860033	C	A	50860033	3	1	22	1	0	0	0	0	1	0	0	0	3335	681	24	2	1701	2	CHAT	10	50860033	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5353	50860033	84674714	10640	12786											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000419399.1_Missense_Mutation_p.R325H|OGDHL_ENST00000432695.1_Missense_Mutation_p.R173H	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													79	361					0	0	1	0	0	T	50955097	C	T	50955097	3	4	22	1	0	0	0	0	1	0	0	0	10888	536	19	1	1947	1	OGDHL	10	50955097	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95064	50955097	84579650	10641	12787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													196	808					0	0	1	0	0	A	51465371	G	A	51465371	3	1	22	1	0	0	0	0	1	0	0	0	370	1261	44	2	910	2	AGAP7	10	51465371	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	510274	51465371	84069376	10642	12788											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													259	1028					0	0	1	0	0	T	51465483	C	T	51465483	3	4	22	1	0	0	0	0	1	0	0	0	370	797	28	2	1022	2	AGAP7	10	51465483	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112	51465483	84069264	10643	12789											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438493.1_Missense_Mutation_p.G267R|NCOA4_ENST00000374082.1_Missense_Mutation_p.G251R|NCOA4_ENST00000430396.2_Missense_Mutation_p.G151R|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000374087.4_Missense_Mutation_p.G251R|NCOA4_ENST00000414907.2_Missense_Mutation_p.G85R|NCOA4_ENST00000443446.1_Missense_Mutation_p.G251R|NCOA4_ENST00000344348.6_Missense_Mutation_p.G251R	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								102	400					0	0	1	0	0	A	51584652	G	A	51584652	3	1	22	1	0	0	0	0	1	0	0	0	10278	1116	39	1	829	1	NCOA4	10	51584652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119169	51584652	83950095	10644	12790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	230					0	0	1	0	0	A	52103414	G	A	52103414	3	1	22	1	0	0	0	0	1	0	0	0	14268	1059	37	1	800	1	SGMS1	10	52103414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	518762	52103414	83431333	10645	12791											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52595854G>A	ENST00000395489.2	-	8	959	c.563C>T	c.(562-564)gCg>gTg	p.A188V	A1CF_ENST00000395495.1_Missense_Mutation_p.A195V|A1CF_ENST00000374001.1_Missense_Mutation_p.A195V|A1CF_ENST00000373995.3_Missense_Mutation_p.A203V|A1CF_ENST00000282641.2_Missense_Mutation_p.A195V|A1CF_ENST00000373997.3_Missense_Mutation_p.A195V|A1CF_ENST00000373993.1_Missense_Mutation_p.A195V	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	195	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													39	416					0	0	1	0	0	A	52595854	G	A	52595854	3	1	22	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	10646	12792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52595869C>T	ENST00000395489.2	-	8	944	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	A1CF_ENST00000395495.1_Missense_Mutation_p.R190Q|A1CF_ENST00000374001.1_Missense_Mutation_p.R190Q|A1CF_ENST00000373995.3_Missense_Mutation_p.R198Q|A1CF_ENST00000282641.2_Missense_Mutation_p.R190Q|A1CF_ENST00000373997.3_Missense_Mutation_p.R190Q|A1CF_ENST00000373993.1_Missense_Mutation_p.R190Q	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	190	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													34	468					0	0	1	0	0	T	52595869	C	T	52595869	3	4	22	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	10647	12793											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.F1666L|PCDH15_ENST00000395432.2_Missense_Mutation_p.F1629L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.F1669L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.F1646L|PCDH15_ENST00000437009.1_Missense_Mutation_p.F1600L|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395445.1_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)			96	460					1.31735e-33	1.56243e-33	1	1	0	T	55582479	G	T	55582479	3	4	22	1	0	0	0	0	1	0	0	0	11558	933	33	2	2470	2	PCDH15	10	55582479	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2986610	55582479	79952268	10648	12794											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1450K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E1061K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1450K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1447K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1410K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1450K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1425K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1379K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1452K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1457K	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)			111	558					0	0	1	0	0	T	55587172	C	T	55587172	3	4	22	1	0	0	0	0	1	0	0	0	11558	922	32	2	3146	2	PCDH15	10	55587172	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4693	55587172	79947575	10649	12795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.S1288T|PCDH15_ENST00000409834.1_Missense_Mutation_p.S899T|PCDH15_ENST00000395438.1_Missense_Mutation_p.S1288T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1288T|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1251T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1288T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1266T|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1217T|PCDH15_ENST00000414778.1_Missense_Mutation_p.S1293T|PCDH15_ENST00000395445.1_Missense_Mutation_p.S1295T	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)			71	283					0	0	1	0	0	T	55600201	A	T	55600201	3	4	22	1	0	0	0	0	1	0	0	0	11558	275	10	5	3644	5	PCDH15	10	55600201	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13029	55600201	79934546	10650	12796											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1277A|PCDH15_ENST00000409834.1_Missense_Mutation_p.E888A|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1277A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1277A|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1240A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1277A|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1255A|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1206A|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1282A|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1284A	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)			58	231					0	0	1	0	0	G	55600233	T	G	55600233	3	3	22	1	0	0	0	0	1	0	0	0	11558	1783	62	3	3676	3	PCDH15	10	55600233	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32	55600233	79934514	10651	12797											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1207D|PCDH15_ENST00000409834.1_Missense_Mutation_p.A818D|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1207D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1207D|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1170D|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.A1207D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1185D|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1136D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1212D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1214D	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)			41	398					1.49673e-21	1.68722e-21	1	1	0	T	55626499	G	T	55626499	3	4	22	1	0	0	0	0	1	0	0	0	11558	971	34	2	3894	2	PCDH15	10	55626499	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26266	55626499	79908248	10652	12798											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Silent_p.V1026V|PCDH15_ENST00000409834.1_Silent_p.V637V|PCDH15_ENST00000395438.1_Silent_p.V1026V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Silent_p.V1026V|PCDH15_ENST00000395432.2_Silent_p.V989V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Silent_p.V1026V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Silent_p.V1004V|PCDH15_ENST00000437009.1_Silent_p.V955V|PCDH15_ENST00000414778.1_Silent_p.V1031V|PCDH15_ENST00000395445.1_Silent_p.V1033V	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)			50	179					2.81731e-22	3.18527e-22	1	1	0	T	55719536	G	T	55719536	2	4	22	1	0	0	0	0	0	0	0	1	11558	929	33	2		2	PCDH15	10	55719536	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93037	55719536	79815211	10653	12799											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373957.3_Missense_Mutation_p.V684L|PCDH15_ENST00000361849.3_Missense_Mutation_p.V706L|PCDH15_ENST00000409834.1_Missense_Mutation_p.V317L|PCDH15_ENST00000395438.1_Missense_Mutation_p.V706L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.V706L|PCDH15_ENST00000373955.1_Missense_Mutation_p.V706L|PCDH15_ENST00000395432.2_Missense_Mutation_p.V669L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.V706L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.V684L|PCDH15_ENST00000437009.1_Missense_Mutation_p.V635L|PCDH15_ENST00000414778.1_Missense_Mutation_p.V711L|PCDH15_ENST00000395445.1_Missense_Mutation_p.V713L	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)			63	285					4.13886e-29	4.83036e-29	1	1	0	A	55826621	C	A	55826621	3	1	22	1	0	0	0	0	1	0	0	0	11558	565	20	2	5434	2	PCDH15	10	55826621	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107085	55826621	79708126	10654	12800											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373957.3_Missense_Mutation_p.A611D|PCDH15_ENST00000361849.3_Missense_Mutation_p.A633D|PCDH15_ENST00000409834.1_Missense_Mutation_p.A244D|PCDH15_ENST00000395438.1_Missense_Mutation_p.A633D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A633D|PCDH15_ENST00000373955.1_Missense_Mutation_p.A633D|PCDH15_ENST00000395432.2_Missense_Mutation_p.A596D|PCDH15_ENST00000395446.1_Missense_Mutation_p.A633D|PCDH15_ENST00000320301.6_Missense_Mutation_p.A633D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A611D|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.A638D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A640D	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)			20	111					1.50039e-11	1.60151e-11	1	1	0	T	55892654	G	T	55892654	3	4	22	1	0	0	0	0	1	0	0	0	11558	971	34	2	5664	2	PCDH15	10	55892654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66033	55892654	79642093	10655	12801											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373957.3_Missense_Mutation_p.L248R|PCDH15_ENST00000361849.3_Missense_Mutation_p.L270R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395442.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395430.1_Missense_Mutation_p.L270R|PCDH15_ENST00000373955.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395432.2_Missense_Mutation_p.L233R|PCDH15_ENST00000395446.1_Missense_Mutation_p.L270R|PCDH15_ENST00000320301.6_Missense_Mutation_p.L270R|PCDH15_ENST00000395440.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395433.1_Missense_Mutation_p.L248R|PCDH15_ENST00000437009.1_Missense_Mutation_p.L270R|PCDH15_ENST00000414778.1_Missense_Mutation_p.L275R|PCDH15_ENST00000395445.1_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)			58	525					0	0	1	0	0	C	56077098	A	C	56077098	3	2	22	1	0	0	0	0	1	0	0	0	11558	72	3	3	6806	3	PCDH15	10	56077098	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	184444	56077098	79457649	10656	12802											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373957.3_Silent_p.T124T|PCDH15_ENST00000361849.3_Silent_p.T146T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Silent_p.T146T|PCDH15_ENST00000395442.1_Silent_p.T146T|PCDH15_ENST00000395430.1_Silent_p.T146T|PCDH15_ENST00000373955.1_Silent_p.T146T|PCDH15_ENST00000395432.2_Silent_p.T146T|PCDH15_ENST00000395446.1_Silent_p.T146T|PCDH15_ENST00000320301.6_Silent_p.T146T|PCDH15_ENST00000395440.1_Silent_p.T146T|PCDH15_ENST00000395433.1_Silent_p.T124T|PCDH15_ENST00000437009.1_Silent_p.T146T|PCDH15_ENST00000414778.1_Silent_p.T151T|PCDH15_ENST00000395445.1_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)			49	211					0	0	1	0	0	T	56128916	A	T	56128916	2	4	22	1	0	0	0	0	0	0	0	1	11558	59	3	5		5	PCDH15	10	56128916	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51818	56128916	79405831	10657	12803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373957.3_Silent_p.V96V|PCDH15_ENST00000361849.3_Silent_p.V118V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Silent_p.V118V|PCDH15_ENST00000395442.1_Silent_p.V118V|PCDH15_ENST00000395430.1_Silent_p.V118V|PCDH15_ENST00000373955.1_Silent_p.V118V|PCDH15_ENST00000395432.2_Silent_p.V118V|PCDH15_ENST00000395446.1_Silent_p.V118V|PCDH15_ENST00000320301.6_Silent_p.V118V|PCDH15_ENST00000395440.1_Silent_p.V118V|PCDH15_ENST00000395433.1_Silent_p.V96V|PCDH15_ENST00000437009.1_Silent_p.V118V|PCDH15_ENST00000414778.1_Silent_p.V123V|PCDH15_ENST00000395445.1_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)			44	171					0	0	1	0	0	A	56129000	G	A	56129000	2	1	22	1	0	0	0	0	0	0	0	1	11558	1161	41	2		2	PCDH15	10	56129000	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84	56129000	79405747	10658	12804											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000318387.2_Missense_Mutation_p.A108D|ZWINT_ENST00000395405.1_Missense_Mutation_p.A228D|ZWINT_ENST00000460654.1_5'UTR			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													67	268					1.41401e-22	1.60156e-22	1	1	0	T	58118426	G	T	58118426	3	4	22	1	0	0	0	0	1	0	0	0	18289	971	34	2	158	2	ZWINT	10	58118426	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1989426	58118426	77416321	10659	12805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000318387.2_Silent_p.E41E|ZWINT_ENST00000395405.1_Silent_p.E161E|ZWINT_ENST00000460654.1_5'UTR			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													67	337					0	0	1	0	0	T	58118706	C	T	58118706	2	4	22	1	0	0	0	0	0	0	0	1	18289	912	32	2		2	ZWINT	10	58118706	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	280	58118706	77416041	10660	12806											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	373					3.82405e-32	4.51337e-32	1	1	0	A	60121147	C	A	60121147	3	1	22	1	0	0	0	0	1	0	0	0	16909	681	24	2	80	2	UBE2D1	10	60121147	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2002441	60121147	75413600	10661	12807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	309					0	0	1	0	0	A	60588555	G	A	60588555	2	1	22	1	0	0	0	0	0	0	0	1	1426	1074	38	1		1	BICC1	10	60588555	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	467408	60588555	74946192	10662	12808											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								54	258					0	0	1	0	0	A	61554264	G	A	61554264	2	1	22	1	0	0	0	0	0	0	0	1	2850	1136	40	1		1	CCDC6	10	61554264	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	965709	61554264	73980483	10663	12809											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								88	310					1.37074e-43	1.67417e-43	1	1	0	A	61572421	C	A	61572421	3	1	22	1	0	0	0	0	1	0	0	0	2850	912	32	2	625	2	CCDC6	10	61572421	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18157	61572421	73962326	10664	12810											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61832967G>A	ENST00000280772.1	-	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)	2558					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													122	577					0	0	1	0	0	A	61832967	G	A	61832967	3	1	22	1	0	0	0	0	1	0	0	0	618	1087	38	1	5802	1	ANK3	10	61832967	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	260546	61832967	73701780	10665	12811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61834648G>A	ENST00000280772.1	-	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)	1997					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													14	388					0	0	1	0	0	A	61834648	G	A	61834648	2	1	22	1	0	0	0	0	0	0	0	1	618	1164	41	2		2	ANK3	10	61834648	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1681	61834648	73700099	10666	12812											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61846505T>C	ENST00000280772.1	-	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)	1226					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													67	339					0	0	1	0	0	C	61846505	T	C	61846505	2	2	22	1	0	0	0	0	0	0	0	1	618	1567	55	3		3	ANK3	10	61846505	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11857	61846505	73688242	10667	12813											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61848050T>G	ENST00000280772.1	-	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)	1132					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													103	431					0	0	1	0	0	G	61848050	T	G	61848050	3	3	22	1	0	0	0	0	1	0	0	0	618	1580	55	3	10111	3	ANK3	10	61848050	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1545	61848050	73686697	10668	12814											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61848065G>A	ENST00000280772.1	-	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)	1127					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													84	392					0	0	1	0	0	A	61848065	G	A	61848065	3	1	22	1	0	0	0	0	1	0	0	0	618	1145	40	1	10126	1	ANK3	10	61848065	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	61848065	73686682	10669	12815											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:62023664C>T	ENST00000280772.1	-	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)	210					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													64	222					0	0	1	0	0	T	62023664	C	T	62023664	3	4	22	1	0	0	0	0	1	0	0	0	618	739	26	2	12990	2	ANK3	10	62023664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175599	62023664	73511083	10670	12816											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	492					0	0	1	0	0	A	62648459	G	A	62648459	3	1	22	1	0	0	0	0	1	0	0	0	13383	1086	38	1	1147	1	RHOBTB1	10	62648459	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	624795	62648459	72886288	10671	12817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	182					0	0	1	0	0	T	62670660	C	T	62670660	3	4	22	1	0	0	0	0	1	0	0	0	13383	768	27	1	1841	1	RHOBTB1	10	62670660	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22201	62670660	72864087	10672	12818											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	166					0	0	1	0	0	T	63525708	C	T	63525708	2	4	22	1	0	0	0	0	0	0	0	1	1585	535	19	1		1	C10orf107	10	63525708	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	855048	63525708	72009039	10673	12819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													124	529					0	0	1	0	0	T	63852705	C	T	63852705	2	4	22	1	0	0	0	0	0	0	0	1	919	709	25	2		2	ARID5B	10	63852705	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	326997	63852705	71682042	10674	12820											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR	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													71	296					0	0	1	0	0	T	64159483	C	T	64159483	3	4	22	1	0	0	0	0	1	0	0	0	17926	652	23	1	1173	1	ZNF365	10	64159483	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	306778	64159483	71375264	10675	12821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	540					0	0	1	0	0	G	64382994	T	G	64382994	2	3	22	1	0	0	0	0	0	0	0	1	17926	1596	56	3		3	ZNF365	10	64382994	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	223511	64382994	71151753	10676	12822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Intron	NM_199452.3	NP_955524.3	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													116	517					0	0	1	0	0	T	64414614	C	T	64414614	3	4	22	1	0	0	0	0	1	0	0	0	17926	478	17	2	1534	2	ZNF365	10	64414614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31620	64414614	71120133	10677	12823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	287					9.57592e-29	1.11608e-28	1	1	0	T	64573594	G	T	64573594	2	4	22	1	0	0	0	0	0	0	0	1	4998	1164	41	2		2	EGR2	10	64573594	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158980	64573594	70961153	10678	12824											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	433					0	0	1	0	0	A	64573855	G	A	64573855	2	1	22	1	0	0	0	0	0	0	0	1	4998	929	33	2		2	EGR2	10	64573855	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	261	64573855	70960892	10679	12825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	419					1.58909e-51	1.97261e-51	1	1	0	T	64573870	G	T	64573870	2	4	22	1	0	0	0	0	0	0	0	1	4998	958	34	2		2	EGR2	10	64573870	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	64573870	70960877	10680	12826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	115					1.39806e-14	1.52044e-14	1	1	0	A	64937606	C	A	64937606	3	1	22	1	0	0	0	0	1	0	0	0	7994	912	32	2	543	2	JMJD1C	10	64937606	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	363736	64937606	70597141	10681	12827											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													206	787					0	0	1	0	0	G	64968149	A	G	64968149	3	3	22	1	0	0	0	0	1	0	0	0	7994	14	1	3	4410	3	JMJD1C	10	64968149	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30543	64968149	70566598	10682	12828											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													156	715					6.68407e-91	8.58241e-91	1	1	0	A	64968369	C	A	64968369	3	1	22	1	0	0	0	0	1	0	0	0	7994	680	24	2	4630	2	JMJD1C	10	64968369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	220	64968369	70566378	10683	12829											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	126					0	0	1	0	0	A	64975428	G	A	64975428	3	1	22	1	0	0	0	0	1	0	0	0	7994	942	33	2	6999	2	JMJD1C	10	64975428	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7059	64975428	70559319	10684	12830											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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													26	169					0	0	1	0	0	T	65225411	C	T	65225411	2	4	22	1	0	0	0	0	0	0	0	1	7994	912	32	2		2	JMJD1C	10	65225411	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249983	65225411	70309336	10685	12831											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:67680191T>C	ENST00000433211.1	-	18	2759	c.2585A>G	c.(2584-2586)gAg>gGg	p.E862G	CTNNA3_ENST00000373735.1_Missense_Mutation_p.E201G|CTNNA3_ENST00000373744.4_Missense_Mutation_p.E862G	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	862					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													126	503					0	0	1	0	0	C	67680191	T	C	67680191	3	2	22	1	0	0	0	0	1	0	0	0	4038	1551	54	3	106	3	CTNNA3	10	67680191	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2454780	67680191	67854556	10686	12832											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_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													46	160					0	0	1	0	0	T	68686696	C	T	68686696	2	4	22	1	0	0	0	0	0	0	0	1	9086	796	28	2		2	LRRTM3	10	68686696	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1006505	68686696	66848051	10687	12833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_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													94	367					0	0	1	0	0	A	68686880	G	A	68686880	3	1	22	1	0	0	0	0	1	0	0	0	9086	1087	38	1	212	1	LRRTM3	10	68686880	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	184	68686880	66847867	10688	12834											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_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													87	511					0	0	1	0	0	A	68687299	G	A	68687299	3	1	22	1	0	0	0	0	1	0	0	0	9086	943	33	2	631	2	LRRTM3	10	68687299	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	419	68687299	66847448	10689	12835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69366623C>T	ENST00000433211.1	-	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	95					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													68	370					0	0	1	0	0	T	69366623	C	T	69366623	3	4	22	1	0	0	0	0	1	0	0	0	4038	768	27	1	2467	1	CTNNA3	10	69366623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	679324	69366623	66168124	10690	12836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000497639.1_3'UTR|SIRT1_ENST00000432464.1_5'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													136	635					0	0	1	0	0	C	69651188	T	C	69651188	3	2	22	1	0	0	0	0	1	0	0	0	14392	1783	62	3	832	3	SIRT1	10	69651188	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	284565	69651188	65883559	10691	12837											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354393.2_Missense_Mutation_p.R322C|MYPN_ENST00000540630.1_Missense_Mutation_p.R597C	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													60	208					0	0	1	0	0	T	69926239	C	T	69926239	3	4	22	1	0	0	0	0	1	0	0	0	10146	884	31	1	1823	1	MYPN	10	69926239	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	275051	69926239	65608508	10692	12838											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354393.2_Missense_Mutation_p.Y989C|MYPN_ENST00000540630.1_Missense_Mutation_p.Y1264C	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													71	235					0	0	1	0	0	G	69966658	A	G	69966658	3	3	22	1	0	0	0	0	1	0	0	0	10146	391	14	3	3861	3	MYPN	10	69966658	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40419	69966658	65568089	10693	12839											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	137					3.41278e-10	3.61262e-10	1	1	0	A	69991175	C	A	69991175	3	1	22	1	0	0	0	0	1	0	0	0	1112	797	28	2	202	2	ATOH7	10	69991175	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24517	69991175	65543572	10694	12840											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000441000.2_Missense_Mutation_p.G211D|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.G304D|HNRNPH3_ENST00000469172.1_3'UTR	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													74	360					0	0	1	0	0	A	70101600	G	A	70101600	3	1	22	1	0	0	0	0	1	0	0	0	7309	1261	44	2	986	2	HNRNPH3	10	70101600	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110425	70101600	65433147	10695	12841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	156					5.59293e-11	5.94944e-11	1	1	0	A	70182500	C	A	70182500	3	1	22	1	0	0	0	0	1	0	0	0	4624	623	22	2	854	2	DNA2	10	70182500	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80900	70182500	65352247	10696	12842											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	618					0	0	1	0	0	T	70196900	C	T	70196900	3	4	22	1	0	0	0	0	1	0	0	0	4624	507	18	2	1716	2	DNA2	10	70196900	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14400	70196900	65337847	10697	12843											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70248346C>T	ENST00000265870.2	-	7	749	c.651G>A	c.(649-651)ggG>ggA	p.G217G	SLC25A16_ENST00000493963.1_5'UTR|SLC25A16_ENST00000539557.1_Silent_p.G119G	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16	217					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													34	164					0	0	1	0	0	T	70248346	C	T	70248346	2	4	22	1	0	0	0	0	0	0	0	1	14533	726	26	2		2	SLC25A16	10	70248346	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51446	70248346	65286401	10698	12844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	257					1.87469e-40	2.27324e-40	1	1	0	T	70332731	G	T	70332731	3	4	22	1	0	0	0	0	1	0	0	0	15828	933	33	2	638	2	TET1	10	70332731	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84385	70332731	65202016	10699	12845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	250					1.25742e-37	1.51121e-37	1	1	0	A	70333489	C	A	70333489	3	1	22	1	0	0	0	0	1	0	0	0	15828	797	28	2	1396	2	TET1	10	70333489	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	758	70333489	65201258	10700	12846											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	343					0	0	1	0	0	T	70406025	C	T	70406025	3	4	22	1	0	0	0	0	1	0	0	0	15828	855	30	2	3549	2	TET1	10	70406025	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72536	70406025	65128722	10701	12847											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	109					0	0	1	0	0	A	70426935	G	A	70426935	3	1	22	1	0	0	0	0	1	0	0	0	15828	1116	39	1	4617	1	TET1	10	70426935	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20910	70426935	65107812	10702	12848											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													124	527					0	0	1	0	0	T	70450655	C	T	70450655	3	4	22	1	0	0	0	0	1	0	0	0	15828	893	31	1	5537	1	TET1	10	70450655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23720	70450655	65084092	10703	12849											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543719.1_Missense_Mutation_p.R269H|CCAR1_ENST00000535016.1_Missense_Mutation_p.R269H	NM_018237.2	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													70	355					0	0	1	0	0	A	70508917	G	A	70508917	3	1	22	1	0	0	0	0	1	0	0	0	2748	1145	40	1	881	1	CCAR1	10	70508917	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58262	70508917	65025830	10704	12850											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543719.1_Missense_Mutation_p.S492L|CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000535016.1_Missense_Mutation_p.S492L	NM_018237.2	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													102	421					0	0	1	0	0	T	70515188	C	T	70515188	3	4	22	1	0	0	0	0	1	0	0	0	2748	893	31	1	1566	1	CCAR1	10	70515188	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6271	70515188	65019559	10705	12851											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	516					0	0	1	0	0	A	70644062	G	A	70644062	2	1	22	1	0	0	0	0	0	0	0	1	15375	1074	38	1		1	STOX1	10	70644062	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128874	70644062	64890685	10706	12852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	330					0	0	1	0	0	C	70644973	A	C	70644973	3	2	22	1	0	0	0	0	1	0	0	0	15375	14	1	3	1431	3	STOX1	10	70644973	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	911	70644973	64889774	10707	12853											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	603					0	0	1	0	0	C	70645435	T	C	70645435	3	2	22	1	0	0	0	0	1	0	0	0	15375	1841	64	3	1893	3	STOX1	10	70645435	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	462	70645435	64889312	10708	12854											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	364					0	0	1	0	0	T	70673194	C	T	70673194	3	4	22	1	0	0	0	0	1	0	0	0	4391	884	31	1	827	1	DDX50	10	70673194	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27759	70673194	64861553	10709	12855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	361					0	0	1	0	0	C	70673252	T	C	70673252	3	2	22	1	0	0	0	0	1	0	0	0	4391	1696	59	3	885	3	DDX50	10	70673252	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	58	70673252	64861495	10710	12856											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	492					0	0	1	0	0	A	70679738	G	A	70679738	5	1	22	1	0	0	0	0	0	0	1	0	4391	1275	44	2	1270	2	DDX50	10	70679738	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6486	70679738	64855009	10711	12857											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000489794.1_5'UTR|VPS26A_ENST00000395098.1_Silent_p.I14I|VPS26A_ENST00000546041.1_5'UTR|VPS26A_ENST00000263559.6_Silent_p.I14I|VPS26A_ENST00000541711.1_5'UTR|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													78	344					0	0	1	0	0	T	70892692	C	T	70892692	2	4	22	1	0	0	0	0	0	0	0	1	17257	874	31	1		1	VPS26A	10	70892692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212954	70892692	64642055	10712	12858											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	201					0	0	1	0	0	A	70940063	G	A	70940063	3	1	22	1	0	0	0	0	1	0	0	0	15458	1319	46	2	18	2	SUPV3L1	10	70940063	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47371	70940063	64594684	10713	12859											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	348					1.59627e-33	1.8927e-33	1	1	0	A	70946204	C	A	70946204	3	1	22	1	0	0	0	0	1	0	0	0	15458	913	32	2	365	2	SUPV3L1	10	70946204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6141	70946204	64588543	10714	12860											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000488706.1_3'UTR|HKDC1_ENST00000395086.2_Silent_p.R441R	NM_025130.3	NP_079406.3	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													8	460					0	0	1	0	0	T	71008237	C	T	71008237	2	4	22	1	0	0	0	0	0	0	0	1	7234	784	28	2		2	HKDC1	10	71008237	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62033	71008237	64526510	10715	12861											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000298649.3_Silent_p.N116N|HK1_ENST00000404387.2_Silent_p.N121N|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000359426.6_Silent_p.N117N|HK1_ENST00000360289.2_Silent_p.N105N			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													56	331					0	0	1	0	0	T	71119777	C	T	71119777	2	4	22	1	0	0	0	0	0	0	0	1	7231	477	17	2		2	HK1	10	71119777	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111540	71119777	64414970	10716	12862											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000298649.3_Missense_Mutation_p.R273Q|HK1_ENST00000404387.2_Missense_Mutation_p.R278Q|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000359426.6_Missense_Mutation_p.R274Q|HK1_ENST00000360289.2_Missense_Mutation_p.R262Q			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													57	213					0	0	1	0	0	A	71129326	G	A	71129326	3	1	22	1	0	0	0	0	1	0	0	0	7231	1116	39	1	1025	1	HK1	10	71129326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9549	71129326	64405421	10717	12863											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000298649.3_Silent_p.T502T|HK1_ENST00000404387.2_Silent_p.T507T|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000359426.6_Silent_p.T503T|HK1_ENST00000360289.2_Silent_p.T491T			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													33	129					0	0	1	0	0	A	71142486	G	A	71142486	2	1	22	1	0	0	0	0	0	0	0	1	7231	1074	38	1		1	HK1	10	71142486	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13160	71142486	64392261	10718	12864											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	243					0	0	1	0	0	T	71164835	C	T	71164835	3	4	22	1	0	0	0	0	1	0	0	0	15563	768	27	1	256	1	TACR2	10	71164835	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22349	71164835	64369912	10719	12865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	527					0	0	1	0	0	T	71392750	C	T	71392750	3	4	22	1	0	0	0	0	1	0	0	0	1607	797	28	2	307	2	C10orf35	10	71392750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227915	71392750	64141997	10720	12866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398973.3_Missense_Mutation_p.P142S|COL13A1_ENST00000522165.1_Missense_Mutation_p.P142S|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000398971.3_Missense_Mutation_p.P142S|COL13A1_ENST00000517713.1_Missense_Mutation_p.P142S|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000357811.3_Missense_Mutation_p.P142S|COL13A1_ENST00000354547.3_Missense_Mutation_p.P142S|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398968.3_Missense_Mutation_p.P142S|COL13A1_ENST00000398964.3_Intron|COL13A1_ENST00000398966.3_Missense_Mutation_p.P142S|COL13A1_ENST00000398974.3_Intron|COL13A1_ENST00000398972.3_Missense_Mutation_p.P142S|COL13A1_ENST00000398978.3_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													7	234					0	0	1	0	0	T	71634908	C	T	71634908	3	4	22	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	10721	12867											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	272					8.73648e-17	9.61379e-17	1	1	0	A	71851615	C	A	71851615	3	1	22	1	0	0	0	0	1	0	0	0	6971	681	24	2	392	2	H2AFY2	10	71851615	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	216707	71851615	63683132	10722	12868											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	127					0	0	1	0	0	T	71874688	C	T	71874688	3	4	22	1	0	0	0	0	1	0	0	0	424	739	26	2	171	2	AIFM2	10	71874688	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23073	71874688	63660059	10723	12869											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	315					0	0	1	0	0	T	71880912	C	T	71880912	3	4	22	1	0	0	0	0	1	0	0	0	424	739	26	2	795	2	AIFM2	10	71880912	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6224	71880912	63653835	10724	12870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				60	246					0	0	1	0	0	A	72357840	G	A	72357840	3	1	22	1	0	0	0	0	1	0	0	0	12530	1000	35	2	34	2	PRF1	10	72357840	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	476928	72357840	63176907	10725	12871											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	266					0	0	1	0	0	G	72496502	A	G	72496502	3	3	22	1	0	0	0	0	1	0	0	0	258	275	10	3	1599	3	ADAMTS14	10	72496502	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	138662	72496502	63038245	10726	12872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	197					0	0	1	0	0	T	72500759	C	T	72500759	3	4	22	1	0	0	0	0	1	0	0	0	258	652	23	1	1820	1	ADAMTS14	10	72500759	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4257	72500759	63033988	10727	12873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	536					0	0	1	0	0	C	72631635	T	C	72631635	2	2	22	1	0	0	0	0	0	0	0	1	14272	1673	58	3		3	SGPL1	10	72631635	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	130876	72631635	62903112	10728	12874											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	370					0	0	1	0	0	A	73051266	G	A	73051266	3	1	22	1	0	0	0	0	1	0	0	0	17052	1319	46	2	1410	2	UNC5B	10	73051266	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	419631	73051266	62483481	10729	12875											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													233	903					0	0	1	0	0	A	73121880	G	A	73121880	3	1	22	1	0	0	0	0	1	0	0	0	14591	1145	40	1	969	1	SLC29A3	10	73121880	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70614	73121880	62412867	10730	12876											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	148					0	0	1	0	0	T	73447448	C	T	73447448	2	4	22	1	0	0	0	0	0	0	0	1	3130	883	31	1		1	CDH23	10	73447448	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325568	73447448	62087299	10731	12877											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													135	579					0	0	1	0	0	A	73462397	G	A	73462397	2	1	22	1	0	0	0	0	0	0	0	1	3130	1306	46	2		2	CDH23	10	73462397	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14949	73462397	62072350	10732	12878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	387					0	0	1	0	0	A	73500672	G	A	73500672	3	1	22	1	0	0	0	0	1	0	0	0	3130	1059	37	1	5069	1	CDH23	10	73500672	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38275	73500672	62034075	10733	12879											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.1_5'UTR	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													15	64					0	0	1	0	0	C	73521358	T	C	73521358	3	2	22	1	0	0	0	0	1	0	0	0	1611	1667	58	3	451	3	C10orf54	10	73521358	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20686	73521358	62013389	10734	12880											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.1_5'UTR	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													51	241					0	0	1	0	0	T	73521597	C	T	73521597	3	4	22	1	0	0	0	0	1	0	0	0	1611	768	27	1	690	1	C10orf54	10	73521597	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239	73521597	62013150	10735	12881											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.R727C	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													96	420					0	0	1	0	0	T	73569753	C	T	73569753	3	4	22	1	0	0	0	0	1	0	0	0	3130	652	23	1	9482	1	CDH23	10	73569753	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48156	73569753	61964994	10736	12882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.A840V	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													89	450					0	0	1	0	0	T	73571308	C	T	73571308	3	4	22	1	0	0	0	0	1	0	0	0	3130	739	26	2	9834	2	CDH23	10	73571308	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1555	73571308	61963439	10737	12883											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	225					0	0	1	0	0	A	73588645	G	A	73588645	3	1	22	1	0	0	0	0	1	0	0	0	12692	1203	42	2	1065	2	PSAP	10	73588645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17337	73588645	61946102	10738	12884											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	310					0	0	1	0	0	G	73588821	T	G	73588821	3	3	22	1	0	0	0	0	1	0	0	0	12692	1551	54	3	1241	3	PSAP	10	73588821	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	176	73588821	61945926	10739	12885											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	133					0	0	1	0	0	T	73767332	C	T	73767332	2	4	22	1	0	0	0	0	0	0	0	1	3427	639	23	1		1	CHST3	10	73767332	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178511	73767332	61767415	10740	12886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394919.1_Silent_p.Q201Q|ASCC1_ENST00000394915.3_Silent_p.Q229Q|ASCC1_ENST00000317168.6_Silent_p.Q201Q|ASCC1_ENST00000317126.4_Silent_p.Q201Q|ASCC1_ENST00000545550.1_Silent_p.Q223Q	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													32	466					0	0	1	0	0	T	73921319	C	T	73921319	2	4	22	1	0	0	0	0	0	0	0	1	1030	796	28	2		2	ASCC1	10	73921319	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153987	73921319	61613428	10741	12887											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73973061C>T	ENST00000342444.4	-	0	97				ASCC1_ENST00000394919.1_De_novo_Start_OutOfFrame|ASCC1_ENST00000394915.3_De_novo_Start_OutOfFrame|ASCC1_ENST00000492502.2_5'UTR|ASCC1_ENST00000317168.6_De_novo_Start_OutOfFrame|ASCC1_ENST00000317126.4_De_novo_Start_OutOfFrame|ASCC1_ENST00000545550.1_Missense_Mutation_p.S21N	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													57	187					0	0	1	0	0	T	73973061	C	T	73973061	1	4	22	1	0	0	0	0	0	0	0	0	1030	580	20	2		2	ASCC1	10	73973061	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51742	73973061	61561686	10742	12888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	155	675					0	0	1	0	0	T	74034579	C	T	74034579	3	4	22	1	0	0	0	0	1	0	0	0	4354	913	32	2	338	2	DDIT4	10	74034579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61518	74034579	61500168	10743	12889											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	510					2.20518e-70	2.8012e-70	1	1	0	T	74671483	G	T	74671483	4	4	22	1	0	0	0	0	0	1	0	0	10897	1001	35	2	694	2	OIT3	10	74671483	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	636904	74671483	60863264	10744	12890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394890.2_Missense_Mutation_p.P302L|P4HA1_ENST00000440381.1_Missense_Mutation_p.P302L|P4HA1_ENST00000373008.2_Missense_Mutation_p.P302L|P4HA1_ENST00000263556.3_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													53	237					0	0	1	0	0	A	74806855	G	A	74806855	3	1	22	1	0	0	0	0	1	0	0	0	11403	1000	35	2	806	2	P4HA1	10	74806855	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135372	74806855	60727892	10745	12891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	335					0	0	1	0	0	G	75006444	A	G	75006444	5	3	22	1	0	0	0	0	0	0	1	0	4683	405	14	3	475	3	DNAJC9	10	75006444	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	199589	75006444	60528303	10746	12892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75101334G>A	ENST00000401621.2	-	7	735	c.615C>T	c.(613-615)gaC>gaT	p.D205D	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000310715.3_Silent_p.D205D|TTC18_ENST00000340329.3_Silent_p.D205D|TTC18_ENST00000394865.1_Silent_p.D205D			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													49	234					0	0	1	0	0	A	75101334	G	A	75101334	2	1	22	1	0	0	0	0	0	0	0	1	16747	1020	36	2		2	TTC18	10	75101334	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94890	75101334	60433413	10747	12893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75107993C>A	ENST00000310715.3	-	5	470	c.349_splice	c.e5-1	p.G117_splice	TTC18_ENST00000493787.1_Intron|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Splice_Site_p.G117_splice|TTC18_ENST00000340329.3_Splice_Site_p.G117_splice|TTC18_ENST00000401621.2_Splice_Site_p.G117_splice	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													57	255					5.66675e-16	6.21002e-16	1	1	0	A	75107993	C	A	75107993	5	1	22	1	0	0	0	0	0	0	1	0	16747	869	30	2	3111	2	TTC18	10	75107993	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6659	75107993	60426754	10748	12894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422491.2_Silent_p.E121E|USP54_ENST00000428547.1_Silent_p.E789E|USP54_ENST00000394811.2_Silent_p.E27E|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000408019.1_Silent_p.E939E			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													47	175					0	0	1	0	0	T	75277367	C	T	75277367	2	4	22	1	0	0	0	0	0	0	0	1	17145	564	20	2		2	USP54	10	75277367	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169374	75277367	60257380	10749	12895											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372872.4_Missense_Mutation_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													98	424					2.32112e-61	2.92237e-61	1	1	0	A	75408231	C	A	75408231	3	1	22	1	0	0	0	0	1	0	0	0	15515	796	28	2	1758	2	SYNPO2L	10	75408231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130864	75408231	60126516	10750	12896											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.A76D|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_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													41	210					3.09479e-21	3.48195e-21	1	1	0	A	75510920	C	A	75510920	3	1	22	1	0	0	0	0	1	0	0	0	14050	797	28	2	233	2	SEC24C	10	75510920	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102689	75510920	60023827	10751	12897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Silent_p.P273P|SEC24C_ENST00000546025.1_Silent_p.P131P|SEC24C_ENST00000535742.1_Intron	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													83	425					0	0	1	0	0	A	75520113	G	A	75520113	2	1	22	1	0	0	0	0	0	0	0	1	14050	1074	38	1		1	SEC24C	10	75520113	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9193	75520113	60014634	10752	12898											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.G287R|SEC24C_ENST00000546025.1_Missense_Mutation_p.G145R|SEC24C_ENST00000535742.1_Intron	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													93	366					0	0	1	0	0	A	75520479	G	A	75520479	3	1	22	1	0	0	0	0	1	0	0	0	14050	1117	39	1	877	1	SEC24C	10	75520479	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	366	75520479	60014268	10753	12899											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Silent_p.N590N|SEC24C_ENST00000546025.1_3'UTR|SEC24C_ENST00000535742.1_Intron	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													38	170					0	0	1	0	0	T	75526270	C	T	75526270	2	4	22	1	0	0	0	0	0	0	0	1	14050	535	19	1		1	SEC24C	10	75526270	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5791	75526270	60008477	10754	12900											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540668.1_Missense_Mutation_p.R2W|SEC24C_ENST00000345254.4_Missense_Mutation_p.R754W|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000535742.1_Missense_Mutation_p.R2W	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													22	229					0	0	1	0	0	T	75528646	C	T	75528646	3	4	22	1	0	0	0	0	1	0	0	0	14050	759	27	1	2318	1	SEC24C	10	75528646	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2376	75528646	60006101	10755	12901											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540668.1_Missense_Mutation_p.T38N|SEC24C_ENST00000345254.4_Missense_Mutation_p.T790N|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000535742.1_Missense_Mutation_p.T38N	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													35	163					3.90053e-15	4.25374e-15	1	1	0	A	75528855	C	A	75528855	3	1	22	1	0	0	0	0	1	0	0	0	14050	565	20	2	2431	2	SEC24C	10	75528855	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209	75528855	60005892	10756	12902											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540668.1_Missense_Mutation_p.S63R|SEC24C_ENST00000345254.4_Missense_Mutation_p.S815R|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000535742.1_Missense_Mutation_p.S63R	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													30	124					2.61193e-14	2.83483e-14	1	1	0	A	75529125	C	A	75529125	3	1	22	1	0	0	0	0	1	0	0	0	14050	796	28	2	2511	2	SEC24C	10	75529125	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	270	75529125	60005622	10757	12903											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	76					0	0	1	0	0	G	75532151	A	G	75532151	2	3	22	1	0	0	0	0	0	0	0	1	6138	175	7	3		3	FUT11	10	75532151	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3026	75532151	60002596	10758	12904											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000412307.2_Missense_Mutation_p.L3F|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Missense_Mutation_p.G37R|C10orf55_ENST00000409178.1_Missense_Mutation_p.L3F|PLAU_ENST00000372762.4_Intron	NM_001145031.1	NP_001138503.1	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													49	253					0	0	1	0	0	A	75671996	G	A	75671996	3	1	22	1	0	0	0	0	1	0	0	0	12070	1001	35	2	157	2	PLAU	10	75671996	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139845	75671996	59862751	10759	12905											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Silent_p.C217C|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372762.4_Silent_p.C181C	NM_001145031.1	NP_001138503.1	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													87	371					0	0	1	0	0	T	75673487	C	T	75673487	2	4	22	1	0	0	0	0	0	0	0	1	12070	805	28	2		2	PLAU	10	75673487	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1491	75673487	59861260	10760	12906											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372755.3_Missense_Mutation_p.R680H|VCL_ENST00000417648.2_Intron|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													104	436					0	0	1	0	0	A	75863594	G	A	75863594	3	1	22	1	0	0	0	0	1	0	0	0	17199	1145	40	1	2097	1	VCL	10	75863594	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190107	75863594	59671153	10761	12907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	220					0	0	1	0	0	C	75893913	T	C	75893913	3	2	22	1	0	0	0	0	1	0	0	0	743	1493	52	3	825	3	AP3M1	10	75893913	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30319	75893913	59640834	10762	12908											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	472					0	0	1	0	0	T	76803669	C	T	76803669	3	4	22	1	0	0	0	0	1	0	0	0	4830	884	31	1	363	1	DUPD1	10	76803669	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	909756	76803669	58731078	10763	12909											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000605915.1_Missense_Mutation_p.L203I|DUSP13_ENST00000472493.2_Missense_Mutation_p.L181I|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000464872.1_Missense_Mutation_p.L130I|DUSP13_ENST00000478873.2_Missense_Mutation_p.L317I|DUSP13_ENST00000372700.3_Missense_Mutation_p.L231I|DUSP13_ENST00000607131.1_Missense_Mutation_p.L274I	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													38	162					4.0492e-12	4.34013e-12	1	1	0	T	76854490	G	T	76854490	3	4	22	1	0	0	0	0	1	0	0	0	4839	1000	35	2	59	2	DUSP13	10	76854490	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50821	76854490	58680257	10764	12910											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000607131.1_Intron|DUSP13_ENST00000491677.2_5'UTR|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													36	121					0	0	1	0	0	C	76867809	A	C	76867809	3	2	22	1	0	0	0	0	1	0	0	0	4839	333	12	3	1162	3	DUSP13	10	76867809	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13319	76867809	58666938	10765	12911											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76928312C>T	ENST00000542569.1	+	4	791	c.688C>T	c.(688-690)Cga>Tga	p.R230*	SAMD8_ENST00000372690.3_Nonsense_Mutation_p.R293*|SAMD8_ENST00000372687.3_Nonsense_Mutation_p.R230*	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	230					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													180	740					0	0	1	0	0	T	76928312	C	T	76928312	4	4	22	1	0	0	0	0	0	1	0	0	13877	760	27	1	698	1	SAMD8	10	76928312	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60503	76928312	58606435	10766	12912											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76936003T>C	ENST00000372687.3	+	5	1057	c.972T>C	c.(970-972)cgT>cgC	p.R324R	SAMD8_ENST00000542569.1_Intron|SAMD8_ENST00000372690.3_Intron			Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	0					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													105	539					0	0	1	0	0	C	76936003	T	C	76936003	2	2	22	1	0	0	0	0	0	0	0	1	13877	1625	57	3		3	SAMD8	10	76936003	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7691	76936003	58598744	10767	12913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372443.1_Silent_p.S1165S|KCNMA1_ENST00000404857.1_Silent_p.S1179S|KCNMA1_ENST00000286628.8_Silent_p.S1196S|KCNMA1_ENST00000372440.1_Silent_p.S1138S|KCNMA1_ENST00000404771.3_Silent_p.S1196S|KCNMA1_ENST00000406533.3_Silent_p.S1200S|KCNMA1_ENST00000354353.5_Silent_p.S1199S	NM_002247.3	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													87	374					0	0	1	0	0	T	78647147	C	T	78647147	2	4	22	1	0	0	0	0	0	0	0	1	8117	755	27	1		1	KCNMA1	10	78647147	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1711144	78647147	56887600	10768	12914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	KCNMA1_ENST00000372443.1_Missense_Mutation_p.A1062T|KCNMA1_ENST00000404857.1_Missense_Mutation_p.A1076T|KCNMA1_ENST00000286628.8_Missense_Mutation_p.A1093T|KCNMA1_ENST00000372440.1_Missense_Mutation_p.A1035T|RP11-443A13.5_ENST00000429850.2_RNA|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.A1093T|KCNMA1_ENST00000406533.3_Missense_Mutation_p.A1097T|KCNMA1_ENST00000354353.5_Missense_Mutation_p.A1096T|RP11-443A13.5_ENST00000458661.2_RNA	NM_002247.3	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													24	232					0	0	1	0	0	T	78651348	C	T	78651348	3	4	22	1	0	0	0	0	1	0	0	0	8117	739	26	2	474	2	KCNMA1	10	78651348	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4201	78651348	56883399	10769	12915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78943289A>G	ENST00000286627.5	-	5	1650	c.696_splice	c.e5-1	p.F233_splice	KCNMA1_ENST00000372443.1_Splice_Site_p.F233_splice|KCNMA1_ENST00000404857.1_Splice_Site_p.F233_splice|KCNMA1_ENST00000286628.8_Splice_Site_p.F233_splice|KCNMA1_ENST00000372440.1_Splice_Site_p.F233_splice|KCNMA1_ENST00000404771.3_Splice_Site_p.F233_splice|KCNMA1_ENST00000406533.3_Splice_Site_p.F233_splice|KCNMA1_ENST00000354353.5_Splice_Site_p.F233_splice	NM_002247.3	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													26	113					0	0	1	0	0	G	78943289	A	G	78943289	5	3	22	1	0	0	0	0	0	0	1	0	8117	28	1	3	3280	3	KCNMA1	10	78943289	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	291941	78943289	56591458	10770	12916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372443.1_Silent_p.L215L|KCNMA1_ENST00000404857.1_Silent_p.L215L|KCNMA1_ENST00000286628.8_Silent_p.L215L|KCNMA1_ENST00000372440.1_Silent_p.L215L|KCNMA1_ENST00000404771.3_Silent_p.L215L|KCNMA1_ENST00000406533.3_Silent_p.L215L|KCNMA1_ENST00000354353.5_Silent_p.L215L	NM_002247.3	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													114	434					0	0	1	0	0	C	78944632	T	C	78944632	2	2	22	1	0	0	0	0	0	0	0	1	8117	1635	57	3		3	KCNMA1	10	78944632	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1343	78944632	56590115	10771	12917											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	86					0	0	1	0	0	T	79613246	C	T	79613246	3	4	22	1	0	0	0	0	1	0	0	0	4586	536	19	1	5141	1	DLG5	10	79613246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	668614	79613246	55921501	10772	12918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	223					0	0	1	0	0	T	81037008	C	T	81037008	2	4	22	1	0	0	0	0	0	0	0	1	17754	767	27	1		1	ZMIZ1	10	81037008	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1423762	81037008	54497739	10773	12919											
ZMIZ1	57178	broad.mit.edu	37	chr10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-													tccattacatcacagtggggCtcctcctcctcctccttccc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gct>g	p.AP981del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	981	Pro-rich.				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)			CACAGTGGGGCTCCTCCTCCTCC	0.635													17	1023	---	---	---	---						-	81070789	CTC	-	81070787	7	5	22	1	0	1	0	1	0	0	0	0	17754	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-IB-7651-01A-11D-2154-08	33779	81070787	54463960	10774	12920											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	199					0	0	1	0	0	A	81192458	G	A	81192458	3	1	22	1	0	0	0	0	1	0	0	0	17646	1048	37	1	434	1	ZCCHC24	10	81192458	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121671	81192458	54342289	10775	12921											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	586					0	0	1	0	0	T	81272742	C	T	81272742	3	4	22	1	0	0	0	0	1	0	0	0	5071	884	31	1	339	1	EIF5AL1	10	81272742	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80284	81272742	54262005	10776	12922											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372313.5_Intron|SFTPA1_ENST00000372308.3_5'UTR|SFTPA1_ENST00000428376.2_5'UTR|SFTPA1_ENST00000398636.3_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													38	739					0	0	1	0	0	T	81371565	C	T	81371565	3	4	22	1	0	0	0	0	1	0	0	0	14243	768	27	1	35	1	SFTPA1	10	81371565	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98823	81371565	54163182	10777	12923											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372313.5_Silent_p.L16L|SFTPA1_ENST00000372308.3_Silent_p.L75L|SFTPA1_ENST00000428376.2_Silent_p.L75L|SFTPA1_ENST00000419470.2_Silent_p.L90L	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													179	770					0	0	1	0	0	T	81372118	C	T	81372118	2	4	22	1	0	0	0	0	0	0	0	1	14243	796	28	2		2	SFTPA1	10	81372118	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	553	81372118	54162629	10778	12924											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	229					3.37043e-27	3.8985e-27	1	1	0	T	81702155	G	T	81702155	3	4	22	1	0	0	0	0	1	0	0	0	14247	971	34	2	725	2	SFTPD	10	81702155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	330037	81702155	53832592	10779	12925											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422982.3_Silent_p.G12G|ANXA11_ENST00000265447.4_Silent_p.G12G|ANXA11_ENST00000537102.1_5'UTR|ANXA11_ENST00000360615.4_Silent_p.G12G|ANXA11_ENST00000535999.1_Silent_p.G12G|ANXA11_ENST00000372231.3_Silent_p.G12G	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													14	499					2.31682e-05	2.36778e-05	1	1	0	T	81932582	G	T	81932582	2	4	22	1	0	0	0	0	0	0	0	1	710	958	34	2		2	ANXA11	10	81932582	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230427	81932582	53602165	10780	12926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	285					0	0	1	0	0	C	82331321	A	C	82331321	3	2	22	1	0	0	0	0	1	0	0	0	14290	159	6	3	533	3	SH2D4B	10	82331321	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	398739	82331321	53203426	10781	12927											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	418					0	0	1	0	0	A	85901277	G	A	85901277	2	1	22	1	0	0	0	0	0	0	0	1	6412	1364	48	2		2	GHITM	10	85901277	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3569956	85901277	49633470	10782	12928											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	151					0	0	1	0	0	T	85955302	C	T	85955302	2	4	22	1	0	0	0	0	0	0	0	1	3140	535	19	1		1	CDHR1	10	85955302	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54025	85955302	49579445	10783	12929											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440770.2_Missense_Mutation_p.A426T|CDHR1_ENST00000332904.3_Intron	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													121	512					0	0	1	0	0	A	85973961	G	A	85973961	3	1	22	1	0	0	0	0	1	0	0	0	3140	1087	38	1	2230	1	CDHR1	10	85973961	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18659	85973961	49560786	10784	12930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440770.2_Missense_Mutation_p.L492I|CDHR1_ENST00000332904.3_Intron	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													85	723					7.68447e-34	9.12355e-34	1	1	0	A	85974159	C	A	85974159	3	1	22	1	0	0	0	0	1	0	0	0	3140	797	28	2	2428	2	CDHR1	10	85974159	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198	85974159	49560588	10785	12931											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440770.2_Missense_Mutation_p.A505T|CDHR1_ENST00000332904.3_Intron	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													170	734					0	0	1	0	0	A	85974198	G	A	85974198	3	1	22	1	0	0	0	0	1	0	0	0	3140	1203	42	2	2467	2	CDHR1	10	85974198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	85974198	49560549	10786	12932											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	338					0	0	1	0	0	A	85984832	G	A	85984832	3	1	22	1	0	0	0	0	1	0	0	0	8993	1000	35	2	1511	2	LRIT2	10	85984832	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10634	85984832	49549915	10787	12933											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	199					1.59361e-14	1.73214e-14	1	1	0	A	85997326	C	A	85997326	3	1	22	1	0	0	0	0	1	0	0	0	8992	681	24	2	1644	2	LRIT1	10	85997326	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12494	85997326	49537421	10788	12934											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	174					3.4345e-17	3.7875e-17	1	1	0	A	86012754	C	A	86012754	3	1	22	1	0	0	0	0	1	0	0	0	13341	855	30	2	526	2	RGR	10	86012754	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15428	86012754	49521993	10789	12935											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			98	419					0	0	1	0	0	T	87373312	C	T	87373312	3	4	22	1	0	0	0	0	1	0	0	0	6812	797	28	2	584	2	GRID1	10	87373312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1360558	87373312	48161435	10790	12936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			27	263					0	0	1	0	0	T	87379700	C	T	87379700	3	4	22	1	0	0	0	0	1	0	0	0	6812	652	23	1	757	1	GRID1	10	87379700	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6388	87379700	48155047	10791	12937											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			30	151					0	0	1	0	0	T	87482893	C	T	87482893	3	4	22	1	0	0	0	0	1	0	0	0	6812	893	31	1	1185	1	GRID1	10	87482893	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103193	87482893	48051854	10792	12938											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			47	295					2.13883e-14	2.32436e-14	1	1	0	A	88123711	C	A	88123711	3	1	22	1	0	0	0	0	1	0	0	0	6812	680	24	2	2867	2	GRID1	10	88123711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	640818	88123711	47411036	10793	12939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	351					0	0	1	0	0	C	88211754	T	C	88211754	2	2	22	1	0	0	0	0	0	0	0	1	17308	1654	58	3		3	WAPAL	10	88211754	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88043	88211754	47322993	10794	12940											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	267					0	0	1	0	0	T	88419688	C	T	88419688	2	4	22	1	0	0	0	0	0	0	0	1	10930	755	27	1		1	OPN4	10	88419688	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207934	88419688	47115059	10795	12941											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361373.4_Nonsense_Mutation_p.R296*|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000372066.3_Nonsense_Mutation_p.R249*|LDB3_ENST00000458213.2_Nonsense_Mutation_p.R249*|LDB3_ENST00000263066.6_Nonsense_Mutation_p.R249*|LDB3_ENST00000310944.6_Nonsense_Mutation_p.R296*|LDB3_ENST00000542786.1_3'UTR	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													82	395					0	0	1	0	0	T	88452318	C	T	88452318	4	4	22	1	0	0	0	0	0	1	0	0	8736	760	27	1	1143	1	LDB3	10	88452318	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32630	88452318	47082429	10796	12942											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88635777T>C	ENST00000372037.2	+	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	1					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				51	264					0	0	1	0	0	C	88635777	T	C	88635777	1	2	22	1	0	0	0	0	0	0	0	0	1468	1464	51	3		3	BMPR1A	10	88635777	Translation_Start_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	183459	88635777	46898970	10797	12943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88659555C>A	ENST00000372037.2	+	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	113					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				54	232					3.31993e-32	3.91856e-32	1	1	0	A	88659555	C	A	88659555	3	1	22	1	0	0	0	0	1	0	0	0	1468	913	32	2	352	2	BMPR1A	10	88659555	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23778	88659555	46875192	10798	12944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88696774T>C	ENST00000372027.4	-	7	2649	c.2576A>G	c.(2575-2577)cAt>cGt	p.H859R		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	859	C1q.					extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GAAGTAGCCATGTTCAGGGAA	0.562													16	288					0	0	1	0	0	C	88696774	T	C	88696774	3	2	22	1	0	0	0	0	1	0	0	0	9720	1464	51	3	277	3	MMRN2	10	88696774	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37219	88696774	46837973	10799	12945											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88702615C>A	ENST00000372027.4	-	6	1999	c.1926G>T	c.(1924-1926)caG>caT	p.Q642H		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	642						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TAGCGGCGTCCTGCAGGGCCA	0.741													5	50					0.014758	0.0148251	1	1	0	A	88702615	C	A	88702615	3	1	22	1	0	0	0	0	1	0	0	0	9720	680	24	2	931	2	MMRN2	10	88702615	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5841	88702615	46832132	10800	12946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88703517T>G	ENST00000372027.4	-	6	1097	c.1024A>C	c.(1024-1026)Aag>Cag	p.K342Q		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	342						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TCCTGAGCCTTGTGCAGCCTC	0.647													57	243					0	0	1	0	0	G	88703517	T	G	88703517	3	3	22	1	0	0	0	0	1	0	0	0	9720	1821	63	3	1833	3	MMRN2	10	88703517	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	902	88703517	46831230	10801	12947											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88703541C>T	ENST00000372027.4	-	6	1073	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	334						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AATTTGGTGTCCACATCGGCT	0.632													65	264					0	0	1	0	0	T	88703541	C	T	88703541	3	4	22	1	0	0	0	0	1	0	0	0	9720	855	30	2	1857	2	MMRN2	10	88703541	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24	88703541	46831206	10802	12948											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	953					0	0	1	0	0	T	88768262	C	T	88768262	1	4	22	0	1	0	0	0	0	0	0	0	366	711	25	2		2	AGAP11	10	88768262	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64721	88768262	46766485	10803	12949											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													271	1181					0	0	1	0	0	A	88769136	G	A	88769136	1	1	22	0	1	0	0	0	0	0	0	0	366	1087	38	1		1	AGAP11	10	88769136	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	874	88769136	46765611	10804	12950											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	279					0	0	1	0	0	C	88930603	T	C	88930603	3	2	22	1	0	0	0	0	1	0	0	0	5589	1638	57	3	1849	3	FAM35A	10	88930603	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	161467	88930603	46604144	10805	12951											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	235					0	0	1	0	0	T	88940025	C	T	88940025	2	4	22	1	0	0	0	0	0	0	0	1	5589	796	28	2		2	FAM35A	10	88940025	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9422	88940025	46594722	10806	12952											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	258					0	0	1	0	0	T	88946903	C	T	88946903	2	4	22	1	0	0	0	0	0	0	0	1	5589	796	28	2		2	FAM35A	10	88946903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6878	88946903	46587844	10807	12953											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	333					0	0	1	0	0	A	89473032	G	A	89473032	3	1	22	1	0	0	0	0	1	0	0	0	11482	1261	44	2	356	2	PAPSS2	10	89473032	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	526129	89473032	46061715	10808	12954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	254					0	0	1	0	0	A	89487110	G	A	89487110	3	1	22	1	0	0	0	0	1	0	0	0	11482	1232	43	2	984	2	PAPSS2	10	89487110	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14078	89487110	46047637	10809	12955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000466945.1_5'UTR|RNLS_ENST00000331772.4_Silent_p.V224V|RNLS_ENST00000437752.1_Silent_p.V141V	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													59	323					9.64103e-21	1.08239e-20	1	1	0	T	90122337	G	T	90122337	2	4	22	1	0	0	0	0	0	0	0	1	13557	929	33	2		2	RNLS	10	90122337	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	635227	90122337	45412410	10810	12956											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	446					0	0	1	0	0	T	90356605	C	T	90356605	3	4	22	1	0	0	0	0	1	0	0	0	8867	838	29	2	657	2	LIPJ	10	90356605	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	234268	90356605	45178142	10811	12957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000238983.4_Missense_Mutation_p.D149G|LIPF_ENST00000355843.2_Missense_Mutation_p.D116G	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													119	517					0	0	1	0	0	G	90429617	A	G	90429617	3	3	22	1	0	0	0	0	1	0	0	0	8863	275	10	3	460	3	LIPF	10	90429617	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	73012	90429617	45105130	10812	12958											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000238983.4_Missense_Mutation_p.F237V|LIPF_ENST00000355843.2_Missense_Mutation_p.F204V	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													144	686					0	0	1	0	0	G	90433384	T	G	90433384	3	3	22	1	0	0	0	0	1	0	0	0	8863	1609	56	3	731	3	LIPF	10	90433384	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3767	90433384	45101363	10813	12959											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000238983.4_Silent_p.S321S|LIPF_ENST00000496797.1_3'UTR|LIPF_ENST00000355843.2_Silent_p.S288S	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													38	884					0	0	1	0	0	T	90438204	C	T	90438204	2	4	22	1	0	0	0	0	0	0	0	1	8863	610	22	2		2	LIPF	10	90438204	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4820	90438204	45096543	10814	12960											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	418					0	0	1	0	0	T	90583062	C	T	90583062	3	4	22	1	0	0	0	0	1	0	0	0	647	536	19	1	110	1	ANKRD22	10	90583062	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144858	90583062	44951685	10815	12961											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371926.3_Missense_Mutation_p.N237D|STAMBPL1_ENST00000371924.1_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													118	447					0	0	1	0	0	G	90673146	A	G	90673146	3	3	22	1	0	0	0	0	1	0	0	0	15307	130	5	3	727	3	STAMBPL1	10	90673146	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	90084	90673146	44861601	10816	12962											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437930.3_RNA|ACTA2_ENST00000224784.6_Missense_Mutation_p.E261V|ACTA2-AS1_ENST00000596007.1_RNA|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													83	421					0	0	1	0	0	A	90699290	T	A	90699290	3	1	22	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	10817	12963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90707143C>A	ENST00000458208.1	-	3	604	c.129_splice	c.e3-1	p.G44_splice	ACTA2_ENST00000480297.1_5'UTR|ACTA2_ENST00000224784.6_Splice_Site_p.G44_splice|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													12	515					1.5842e-08	1.65642e-08	1	1	0	A	90707143	C	A	90707143	5	1	22	1	0	0	0	0	0	0	1	0	192	637	22	2	1031	2	ACTA2	10	90707143	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7853	90707143	44827604	10818	12964											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000456827.1_Missense_Mutation_p.L14I|LIPA_ENST00000371837.1_Intron			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													34	182					2.51541e-25	2.88513e-25	1	1	0	T	91007366	G	T	91007366	3	4	22	1	0	0	0	0	1	0	0	0	8860	942	33	2	1195	2	LIPA	10	91007366	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	300223	91007366	44527381	10819	12965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_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													12	436					9.05144e-12	9.67624e-12	1	1	0	T	91098602	G	T	91098602	3	4	22	1	0	0	0	0	1	0	0	0	7568	942	33	2	205	2	IFIT3	10	91098602	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91236	91098602	44436145	10820	12966											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_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													74	300					0	0	1	0	0	T	91098786	A	T	91098786	3	4	22	1	0	0	0	0	1	0	0	0	7568	72	3	5	389	5	IFIT3	10	91098786	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	184	91098786	44435961	10821	12967											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	IFIT1_ENST00000371804.3_Silent_p.A182A|LIPA_ENST00000371837.1_Intron	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													202	878					0	0	1	0	0	A	91162578	G	A	91162578	2	1	22	1	0	0	0	0	0	0	0	1	7565	1045	37	1		1	IFIT1	10	91162578	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63792	91162578	44372169	10822	12968											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	IFIT1_ENST00000371804.3_Missense_Mutation_p.S284F|LIPA_ENST00000371837.1_Intron	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													84	424					0	0	1	0	0	T	91162883	C	T	91162883	3	4	22	1	0	0	0	0	1	0	0	0	7565	913	32	2	857	2	IFIT1	10	91162883	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	305	91162883	44371864	10823	12969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	334					0	0	1	0	0	G	91177557	C	G	91177557	3	3	22	1	0	0	0	0	1	0	0	0	7569	912	32	5	607	5	IFIT5	10	91177557	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14674	91177557	44357190	10824	12970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	188					0	0	1	0	0	C	91195956	A	C	91195956	3	2	22	1	0	0	0	0	1	0	0	0	14460	127	5	3	409	3	SLC16A12	10	91195956	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18399	91195956	44338791	10825	12971											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	154					0	0	1	0	0	A	91203589	G	A	91203589	2	1	22	1	0	0	0	0	0	0	0	1	14460	1165	41	2		2	SLC16A12	10	91203589	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7633	91203589	44331158	10826	12972											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371728.3_Missense_Mutation_p.K112Q|KIF20B_ENST00000260753.4_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													117	502					0	0	1	0	0	C	91469201	A	C	91469201	3	2	22	1	0	0	0	0	1	0	0	0	8329	247	9	3	344	3	KIF20B	10	91469201	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	265612	91469201	44065546	10827	12973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371728.3_Silent_p.Q391Q|KIF20B_ENST00000260753.4_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													101	396					0	0	1	0	0	A	91477381	G	A	91477381	2	1	22	1	0	0	0	0	0	0	0	1	8329	933	33	2		2	KIF20B	10	91477381	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8180	91477381	44057366	10828	12974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371728.3_Missense_Mutation_p.T1134N|KIF20B_ENST00000260753.4_Missense_Mutation_p.T1094N|KIF20B_ENST00000394289.2_Missense_Mutation_p.T1134N|KIF20B_ENST00000478929.1_3'UTR			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													48	427					6.27289e-28	7.28045e-28	1	1	0	A	91497999	C	A	91497999	3	1	22	1	0	0	0	0	1	0	0	0	8329	565	20	2	3355	2	KIF20B	10	91497999	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20618	91497999	44036748	10829	12975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371728.3_Missense_Mutation_p.R1280M|KIF20B_ENST00000260753.4_Missense_Mutation_p.R1240M|KIF20B_ENST00000394289.2_Missense_Mutation_p.R1280M|KIF20B_ENST00000478929.1_3'UTR			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													51	224					1.19451e-25	1.37202e-25	1	1	0	T	91498777	G	T	91498777	3	4	22	1	0	0	0	0	1	0	0	0	8329	1000	35	2	3797	2	KIF20B	10	91498777	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	778	91498777	44035970	10830	12976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000277874.6_Silent_p.N405N|HTR7_ENST00000371719.2_Silent_p.N405N|HTR7_ENST00000336152.3_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													100	855					0	0	1	0	0	G	92508676	A	G	92508676	2	3	22	1	0	0	0	0	0	0	0	1	7496	446	16	3		3	HTR7	10	92508676	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1009899	92508676	43026071	10831	12977											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000277874.6_Missense_Mutation_p.Q223H|HTR7_ENST00000371719.2_Missense_Mutation_p.Q223H|HTR7_ENST00000336152.3_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													95	352					1.76565e-42	2.15003e-42	1	1	0	A	92509222	C	A	92509222	3	1	22	1	0	0	0	0	1	0	0	0	7496	912	32	2	786	2	HTR7	10	92509222	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	546	92509222	43025525	10832	12978											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371703.3_Missense_Mutation_p.P200S|RPP30_ENST00000489806.1_3'UTR	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													32	277					0	0	1	0	0	T	92655655	C	T	92655655	3	4	22	1	0	0	0	0	1	0	0	0	13664	739	26	2	632	2	RPP30	10	92655655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146433	92655655	42879092	10833	12979											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	127					1.42536e-11	1.52187e-11	1	1	0	A	92663014	C	A	92663014	3	1	22	1	0	0	0	0	1	0	0	0	13664	797	28	2	1025	2	RPP30	10	92663014	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7359	92663014	42871733	10834	12980											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	179					0	0	1	0	0	T	92675933	C	T	92675933	3	4	22	1	0	0	0	0	1	0	0	0	633	913	32	2	329	2	ANKRD1	10	92675933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12919	92675933	42858814	10835	12981											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	168					0	0	1	0	0	A	93011074	G	A	93011074	2	1	22	1	0	0	0	0	0	0	0	1	11624	1045	37	1		1	PCGF5	10	93011074	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	335141	93011074	42523673	10836	12982											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	326					0	0	1	0	0	T	93011174	C	T	93011174	4	4	22	1	0	0	0	0	0	1	0	0	11624	711	25	2	469	2	PCGF5	10	93011174	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100	93011174	42523573	10837	12983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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													47	339					0	0	1	0	0	A	93244323	G	A	93244323	3	1	22	1	0	0	0	0	1	0	0	0	7081	1087	38	1	939	1	HECTD2	10	93244323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	233149	93244323	42290424	10838	12984											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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													33	262					0	0	1	0	0	T	93256087	C	T	93256087	2	4	22	1	0	0	0	0	0	0	0	1	7081	697	25	2		2	HECTD2	10	93256087	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11764	93256087	42278660	10839	12985											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	474					3.09899e-07	3.21319e-07	1	1	0	A	93608274	C	A	93608274	3	1	22	1	0	0	0	0	1	0	0	0	16381	738	26	2	2567	2	TNKS2	10	93608274	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	352187	93608274	41926473	10840	12986											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	409					0	0	1	0	0	A	93608297	G	A	93608297	3	1	22	1	0	0	0	0	1	0	0	0	16381	971	34	2	2590	2	TNKS2	10	93608297	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	93608297	41926450	10841	12987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	201					0	0	1	0	0	A	93695422	G	A	93695422	3	1	22	1	0	0	0	0	1	0	0	0	1538	1087	38	1	29	1	BTAF1	10	93695422	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87125	93695422	41839325	10842	12988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	493					0	0	1	0	0	A	93711250	G	A	93711250	3	1	22	1	0	0	0	0	1	0	0	0	1538	1029	36	2	509	2	BTAF1	10	93711250	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15828	93711250	41823497	10843	12989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													141	511					3.30668e-82	4.23156e-82	1	1	0	T	93713536	G	T	93713536	4	4	22	1	0	0	0	0	0	1	0	0	1538	1001	35	2	629	2	BTAF1	10	93713536	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2286	93713536	41821211	10844	12990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	228					0	0	1	0	0	T	93768637	C	T	93768637	2	4	22	1	0	0	0	0	0	0	0	1	1538	912	32	2		2	BTAF1	10	93768637	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55101	93768637	41766110	10845	12991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	110					0.000978159	0.000988919	1	1	0	A	93999697	C	A	93999697	3	1	22	1	0	0	0	0	1	0	0	0	3825	912	32	2	1748	2	CPEB3	10	93999697	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	231060	93999697	41535050	10846	12992											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	154					0	0	1	0	0	T	94373174	C	T	94373174	3	4	22	1	0	0	0	0	1	0	0	0	8314	797	28	2	860	2	KIF11	10	94373174	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	373477	94373174	41161573	10847	12993											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	383					8.16721e-17	8.9905e-17	1	1	0	A	94381182	C	A	94381182	3	1	22	1	0	0	0	0	1	0	0	0	8314	797	28	2	1207	2	KIF11	10	94381182	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8008	94381182	41153565	10848	12994											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000472590.2_5'UTR|HHEX_ENST00000492654.2_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													54	255					0	0	1	0	0	A	94452255	G	A	94452255	2	1	22	1	0	0	0	0	0	0	0	1	7132	1074	38	1		1	HHEX	10	94452255	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71073	94452255	41082492	10849	12995											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000224356.4_Silent_p.R183R|CYP26A1_ENST00000394139.1_Silent_p.R114R	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													92	413					0	0	1	0	0	T	94834670	C	T	94834670	2	4	22	1	0	0	0	0	0	0	0	1	4178	726	26	2		2	CYP26A1	10	94834670	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	382415	94834670	40700077	10850	12996											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000224356.4_Missense_Mutation_p.Y355C|CYP26A1_ENST00000394139.1_Missense_Mutation_p.Y286C	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													73	367					0	0	1	0	0	G	94836365	A	G	94836365	3	3	22	1	0	0	0	0	1	0	0	0	4178	391	14	3	1086	3	CYP26A1	10	94836365	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1695	94836365	40698382	10851	12997											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358334.5_Missense_Mutation_p.G1796R|MYOF_ENST00000359263.4_Missense_Mutation_p.G1809R|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													126	765					0	0	1	0	0	T	95082866	C	T	95082866	3	4	22	1	0	0	0	0	1	0	0	0	10137	690	24	2	788	2	MYOF	10	95082866	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	246501	95082866	40451881	10852	12998											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	532					0	0	1	0	0	A	95353719	G	A	95353719	2	1	22	1	0	0	0	0	0	0	0	1	13210	1045	37	1		1	RBP4	10	95353719	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270853	95353719	40181028	10853	12999											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	414					0	0	1	0	0	A	95353756	G	A	95353756	3	1	22	1	0	0	0	0	1	0	0	0	13210	1145	40	1	221	1	RBP4	10	95353756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	95353756	40180991	10854	13000											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	102					2.35188e-11	2.50879e-11	1	1	0	T	95396763	G	T	95396763	3	4	22	1	0	0	0	0	1	0	0	0	11694	933	33	2	1467	2	PDE6C	10	95396763	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43007	95396763	40137984	10855	13001											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96018655T>C	ENST00000260766.3	+	12	4287	c.3653T>C	c.(3652-3654)tTt>tCt	p.F1218S	PLCE1_ENST00000371375.1_Missense_Mutation_p.F910S|PLCE1_ENST00000371380.2_Missense_Mutation_p.F1218S|PLCE1_ENST00000371385.3_Missense_Mutation_p.F910S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1218					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													98	437					0	0	1	0	0	C	96018655	T	C	96018655	3	2	22	1	0	0	0	0	1	0	0	0	12082	1841	64	3	3981	3	PLCE1	10	96018655	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	621892	96018655	39516092	10856	13002											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96022269T>G	ENST00000260766.3	+	14	4467	c.3833T>G	c.(3832-3834)gTc>gGc	p.V1278G	PLCE1_ENST00000371375.1_Missense_Mutation_p.V970G|PLCE1_ENST00000371380.2_Missense_Mutation_p.V1278G|PLCE1_ENST00000371385.3_Missense_Mutation_p.V970G	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1278					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													167	737					0	0	1	0	0	G	96022269	T	G	96022269	3	3	22	1	0	0	0	0	1	0	0	0	12082	1667	58	3	4169	3	PLCE1	10	96022269	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3614	96022269	39512478	10857	13003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96022417T>C	ENST00000260766.3	+	14	4615	c.3981T>C	c.(3979-3981)ctT>ctC	p.L1327L	PLCE1_ENST00000371375.1_Silent_p.L1019L|PLCE1_ENST00000371380.2_Silent_p.L1327L|PLCE1_ENST00000371385.3_Silent_p.L1019L	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1327					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													134	616					0	0	1	0	0	C	96022417	T	C	96022417	2	2	22	1	0	0	0	0	0	0	0	1	12082	1770	62	3		3	PLCE1	10	96022417	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	148	96022417	39512330	10858	13004											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96044717T>C	ENST00000260766.3	+	22	5664	c.5030T>C	c.(5029-5031)tTt>tCt	p.F1677S	PLCE1_ENST00000371375.1_Missense_Mutation_p.F1369S|PLCE1-AS1_ENST00000425267.3_RNA|PLCE1_ENST00000371380.2_Missense_Mutation_p.F1677S|PLCE1_ENST00000371385.3_Missense_Mutation_p.F1369S|PLCE1-AS1_ENST00000596633.1_RNA|PLCE1-AS1_ENST00000440198.1_RNA	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1677					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													47	175					0	0	1	0	0	C	96044717	T	C	96044717	3	2	22	1	0	0	0	0	1	0	0	0	12082	1841	64	3	5398	3	PLCE1	10	96044717	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22300	96044717	39490030	10859	13005											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96076504C>T	ENST00000260766.3	+	29	6967	c.6333C>T	c.(6331-6333)acC>acT	p.T2111T	NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371375.1_Silent_p.T1803T|PLCE1_ENST00000371380.2_Silent_p.T2111T|PLCE1_ENST00000371385.3_Silent_p.T1803T	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2111	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													28	138					0	0	1	0	0	T	96076504	C	T	96076504	2	4	22	1	0	0	0	0	0	0	0	1	12082	610	22	2		2	PLCE1	10	96076504	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31787	96076504	39458243	10860	13006											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96100033C>A	ENST00000371361.3	-	16	1880	c.1780_splice	c.e16+1	p.G594_splice	NOC3L_ENST00000543788.1_Splice_Site_p.G332_splice|NOC3L_ENST00000371350.1_Splice_Site_p.G594_splice	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													31	171					6.04164e-23	6.85534e-23	1	1	0	A	96100033	C	A	96100033	5	1	22	1	0	0	0	0	0	0	1	0	10561	695	24	2	646	2	NOC3L	10	96100033	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23529	96100033	39434714	10861	13007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	195					0	0	1	0	0	A	96117060	G	A	96117060	3	1	22	1	0	0	0	0	1	0	0	0	10561	1319	46	2	2095	2	NOC3L	10	96117060	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17027	96117060	39417687	10862	13008											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	409					0	0	1	0	0	A	96291155	G	A	96291155	3	1	22	1	0	0	0	0	1	0	0	0	15658	1175	41	2	2243	2	TBC1D12	10	96291155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174095	96291155	39243592	10863	13009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371332.4_Nonsense_Mutation_p.E639*|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Nonsense_Mutation_p.E495*|HELLS_ENST00000239026.6_3'UTR|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													45	202					8.48111e-28	9.83746e-28	1	1	0	T	96351995	G	T	96351995	4	4	22	1	0	0	0	0	0	1	0	0	7087	943	33	2	1839	2	HELLS	10	96351995	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60840	96351995	39182752	10864	13010											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	383					4.3955e-51	5.45232e-51	1	1	0	T	96447959	G	T	96447959	3	4	22	1	0	0	0	0	1	0	0	0	4188	1232	43	2	419	2	CYP2C18	10	96447959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95964	96447959	39086788	10865	13011											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	539					1.4482e-55	1.81058e-55	1	1	0	A	96484190	C	A	96484190	3	1	22	1	0	0	0	0	1	0	0	0	4188	797	28	2	1075	2	CYP2C18	10	96484190	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36231	96484190	39050557	10866	13012											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	383					0	0	1	0	0	A	96493196	G	A	96493196	5	1	22	1	0	0	0	0	0	0	1	0	4188	1275	44	2	1322	2	CYP2C18	10	96493196	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9006	96493196	39041551	10867	13013											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	613					0	0	1	0	0	A	96707611	G	A	96707611	3	1	22	1	0	0	0	0	1	0	0	0	4191	1145	40	1	571	1	CYP2C9	10	96707611	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214415	96707611	38827136	10868	13014											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371245.3_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.T958I|SORBS1_ENST00000361941.3_Missense_Mutation_p.T1004I|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371246.2_Intron			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													21	216					0	0	1	0	0	A	97096906	G	A	97096906	3	1	22	1	0	0	0	0	1	0	0	0	14981	1261	44	2	947	2	SORBS1	10	97096906	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	389295	97096906	38437841	10869	13015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	360					0	0	1	0	0	A	97397085	G	A	97397085	3	1	22	1	0	0	0	0	1	0	0	0	486	1086	38	1	2035	1	ALDH18A1	10	97397085	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	300179	97397085	38137662	10870	13016											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97440291G>T	ENST00000265993.8	-	13	1771	c.1528C>A	c.(1528-1530)Ctg>Atg	p.L510M	TCTN3_ENST00000371217.4_Missense_Mutation_p.L523M|TCTN3_ENST00000430368.1_Missense_Mutation_p.L362M	NM_015631.5	NP_056446.4	Q6NUS6	TECT3_HUMAN	tectonic family member 3	510					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													17	835					3.52763e-06	3.62938e-06	1	1	0	T	97440291	G	T	97440291	3	4	22	1	0	0	0	0	1	0	0	0	15783	991	35	2	303	2	TCTN3	10	97440291	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43206	97440291	38094456	10871	13017											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.P117H|ENTPD1-AS1_ENST00000454638.1_RNA	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													34	170					3.66082e-28	4.25431e-28	1	1	0	A	97773576	C	A	97773576	3	1	22	1	0	0	0	0	1	0	0	0	2747	681	24	2	364	2	CC2D2B	10	97773576	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	333285	97773576	37761171	10872	13018											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.R290C|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.R291C|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.R302C	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													148	565					0	0	1	0	0	T	97817750	C	T	97817750	3	4	22	1	0	0	0	0	1	0	0	0	2950	884	31	1	922	1	CCNJ	10	97817750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44174	97817750	37716997	10873	13019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	164					0	0	1	0	0	T	97916210	C	T	97916210	1	4	22	0	1	0	0	0	0	0	0	0	18019	710	25	2		2	ZNF518A	10	97916210	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98460	97916210	37618537	10874	13020											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97967627C>T	ENST00000224337.5	-	10	916		c.e10+1		BLNK_ENST00000413476.2_Splice_Site|BLNK_ENST00000371176.2_Splice_Site|BLNK_ENST00000427367.2_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													63	279					0	0	1	0	0	T	97967627	C	T	97967627	5	4	22	1	0	0	0	0	0	0	1	0	1446	579	20	2	627	2	BLNK	10	97967627	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51417	97967627	37567120	10875	13021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	285					0	0	1	0	0	A	98064324	G	A	98064324	3	1	22	1	0	0	0	0	1	0	0	0	4707	1203	42	2	72	2	DNTT	10	98064324	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96697	98064324	37470423	10876	13022											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	300					0	0	1	0	0	G	98064345	A	G	98064345	3	3	22	1	0	0	0	0	1	0	0	0	4707	131	5	3	93	3	DNTT	10	98064345	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21	98064345	37470402	10877	13023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371172.3_Missense_Mutation_p.M125T|OPALIN_ENST00000536387.1_Missense_Mutation_p.M115T|OPALIN_ENST00000393870.2_Missense_Mutation_p.M114T|OPALIN_ENST00000393871.1_Missense_Mutation_p.M102T	NM_001040103.1	NP_001035192.1	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													137	515					0	0	1	0	0	G	98105750	A	G	98105750	3	3	22	1	0	0	0	0	1	0	0	0	10921	217	8	3	55	3	OPALIN	10	98105750	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41405	98105750	37428997	10878	13024											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	380					0	0	1	0	0	T	98182405	C	T	98182405	3	4	22	1	0	0	0	0	1	0	0	0	16006	478	17	2	2393	2	TLL2	10	98182405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76655	98182405	37352342	10879	13025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	316					0	0	1	0	0	A	98188430	G	A	98188430	3	1	22	1	0	0	0	0	1	0	0	0	16006	1145	40	1	2519	1	TLL2	10	98188430	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6025	98188430	37346317	10880	13026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	398					0	0	1	0	0	G	98325081	A	G	98325081	3	3	22	1	0	0	0	0	1	0	0	0	16039	449	16	3	1420	3	TM9SF3	10	98325081	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	136651	98325081	37209666	10881	13027											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371110.2_Silent_p.K486K|PIK3AP1_ENST00000371109.3_Silent_p.K263K	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													114	602					0	0	1	0	0	T	98376418	C	T	98376418	2	4	22	1	0	0	0	0	0	0	0	1	11956	796	28	2		2	PIK3AP1	10	98376418	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51337	98376418	37158329	10882	13028											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371110.2_Missense_Mutation_p.A239D|PIK3AP1_ENST00000468783.1_5'UTR	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													59	310					7.41606e-26	8.52628e-26	1	1	0	T	98405355	G	T	98405355	3	4	22	1	0	0	0	0	1	0	0	0	11956	971	34	2	1207	2	PIK3AP1	10	98405355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28937	98405355	37129392	10883	13029											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	255					3.62531e-18	4.01709e-18	1	1	0	A	98741161	C	A	98741161	3	1	22	1	0	0	0	0	1	0	0	0	1593	797	28	2	16	2	C10orf12	10	98741161	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	335806	98741161	36793586	10884	13030											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	403					0	0	1	0	0	G	98741860	T	G	98741860	3	3	22	1	0	0	0	0	1	0	0	0	1593	1493	52	3	715	3	C10orf12	10	98741860	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	699	98741860	36792887	10885	13031											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	531					0	0	1	0	0	T	98744054	C	T	98744054	2	4	22	1	0	0	0	0	0	0	0	1	1593	726	26	2		2	C10orf12	10	98744054	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2194	98744054	36790693	10886	13032											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SLIT1_ENST00000371070.4_Missense_Mutation_p.G1461S|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	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													158	693					0	0	1	0	0	T	98760969	C	T	98760969	3	4	22	1	0	0	0	0	1	0	0	0	14793	652	23	1	103	1	SLIT1	10	98760969	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16915	98760969	36773778	10887	13033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SLIT1_ENST00000371070.4_Missense_Mutation_p.K484T|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	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													112	517					0	0	1	0	0	G	98808726	T	G	98808726	3	3	22	1	0	0	0	0	1	0	0	0	14793	1609	56	3	3249	3	SLIT1	10	98808726	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47757	98808726	36726021	10888	13034											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SLIT1_ENST00000371070.4_Missense_Mutation_p.S411P|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	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													127	637					0	0	1	0	0	G	98816148	A	G	98816148	3	3	22	1	0	0	0	0	1	0	0	0	14793	304	11	3	3473	3	SLIT1	10	98816148	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7422	98816148	36718599	10889	13035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SLIT1_ENST00000371070.4_Silent_p.I236I|SLIT1_ENST00000371041.3_Silent_p.I236I|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	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													31	119					0	0	1	0	0	A	98823297	G	A	98823297	2	1	22	1	0	0	0	0	0	0	0	1	14793	1048	37	1		1	SLIT1	10	98823297	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7149	98823297	36711450	10890	13036											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	264					0	0	1	0	0	A	99190716	G	A	99190716	3	1	22	1	0	0	0	0	1	0	0	0	11821	1087	38	1	429	1	PGAM1	10	99190716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	367419	99190716	36344031	10891	13037											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370782.2_Missense_Mutation_p.R188C|MMS19_ENST00000355839.6_Intron|MMS19_ENST00000327238.10_Missense_Mutation_p.R188C|MMS19_ENST00000483626.1_5'UTR|MMS19_ENST00000327277.7_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					57	244					0	0	1	0	0	A	99236652	G	A	99236652	3	1	22	1	0	0	0	0	1	0	0	0	9721	1116	39	1	2630	1	MMS19	10	99236652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45936	99236652	36298095	10892	13038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	266					0	0	1	0	0	A	99327681	G	A	99327681	2	1	22	1	0	0	0	0	0	0	0	1	16968	962	34	2		2	UBTD1	10	99327681	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91029	99327681	36207066	10893	13039											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	310					0	0	1	0	0	G	99330200	A	G	99330200	3	3	22	1	0	0	0	0	1	0	0	0	16968	159	6	3	614	3	UBTD1	10	99330200	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2519	99330200	36204547	10894	13040											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	337					0	0	1	0	0	T	99422666	C	T	99422666	4	4	22	1	0	0	0	0	0	1	0	0	11919	876	31	1	943	1	PI4K2A	10	99422666	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92466	99422666	36112081	10895	13041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													124	467					0	0	1	0	0	C	99433364	A	C	99433364	3	2	22	1	0	0	0	0	1	0	0	0	11919	69	3	3	1339	3	PI4K2A	10	99433364	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10698	99433364	36101383	10896	13042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	241					1.52009e-12	1.63397e-12	1	1	0	T	99624000	G	T	99624000	3	4	22	1	0	0	0	0	1	0	0	0	6602	942	33	2	381	2	GOLGA7B	10	99624000	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190636	99624000	35910747	10897	13043											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	243					0	0	1	0	0	A	99667810	G	A	99667810	2	1	22	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	10898	13044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	417					0	0	1	0	0	T	100015438	C	T	100015438	3	4	22	1	0	0	0	0	1	0	0	0	8947	768	27	1	807	1	LOXL4	10	100015438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	347628	100015438	35519309	10899	13045											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	154					9.8876e-21	1.10988e-20	1	1	0	A	100021971	C	A	100021971	5	1	22	1	0	0	0	0	0	0	1	0	8947	695	24	2	2045	2	LOXL4	10	100021971	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6533	100021971	35512776	10900	13046											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	346					0	0	1	0	0	A	100152291	G	A	100152291	2	1	22	1	0	0	0	0	0	0	0	1	12919	958	34	2		2	PYROXD2	10	100152291	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	130320	100152291	35382456	10901	13047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361490.4_Silent_p.T659T|HPS1_ENST00000467246.1_5'UTR	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				48	217					0	0	1	0	0	A	100177447	G	A	100177447	2	1	22	1	0	0	0	0	0	0	0	1	7380	1103	39	1		1	HPS1	10	100177447	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25156	100177447	35357300	10902	13048											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361490.4_Silent_p.L623L|HPS1_ENST00000467246.1_5'UTR	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				16	379					0	0	1	0	0	A	100178003	G	A	100178003	2	1	22	1	0	0	0	0	0	0	0	1	7380	1161	41	2		2	HPS1	10	100178003	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	556	100178003	35356744	10903	13049											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370549.1_Intron|HPSE2_ENST00000404542.1_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													103	441					0	0	1	0	0	T	100503711	C	T	100503711	3	4	22	1	0	0	0	0	1	0	0	0	7386	565	20	2	1139	2	HPSE2	10	100503711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325708	100503711	35031036	10904	13050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446890.1_Silent_p.R372R|CNNM1_ENST00000370528.3_Silent_p.R372R|CNNM1_ENST00000370534.4_Silent_p.R78R	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													51	237					0	0	1	0	0	T	101090473	C	T	101090473	2	4	22	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	10905	13051											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446890.1_Silent_p.S703S|CNNM1_ENST00000488090.1_3'UTR|CNNM1_ENST00000370528.3_Silent_p.S703S|CNNM1_ENST00000370534.4_Silent_p.S430S	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													20	102					0	0	1	0	0	T	101136957	C	T	101136957	2	4	22	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	10906	13052											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446890.1_Missense_Mutation_p.P877S|CNNM1_ENST00000370528.3_Missense_Mutation_p.P827S|CNNM1_ENST00000370534.4_Missense_Mutation_p.P604S	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													17	128					0	0	1	0	0	T	101151259	C	T	101151259	3	4	22	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	10907	13053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	428					0	0	1	0	0	G	101180479	T	G	101180479	3	3	22	1	0	0	0	0	1	0	0	0	6618	1841	64	3	1071	3	GOT1	10	101180479	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29220	101180479	34354268	10908	13054											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													133	610					5.753e-54	7.17579e-54	1	1	0	A	101190246	C	A	101190246	3	1	22	1	0	0	0	0	1	0	0	0	6618	681	24	2	1200	2	GOT1	10	101190246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9767	101190246	34344501	10909	13055											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	415					0	0	1	0	0	A	101370678	G	A	101370678	2	1	22	1	0	0	0	0	0	0	0	1	14546	1048	37	1		1	SLC25A28	10	101370678	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180432	101370678	34164069	10910	13056											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	671					0	0	1	0	0	T	101439486	C	T	101439486	2	4	22	1	0	0	0	0	0	0	0	1	5172	903	32	2		2	ENTPD7	10	101439486	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68808	101439486	34095261	10911	13057											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	COX15_ENST00000016171.5_Missense_Mutation_p.P111L|CUTC_ENST00000493385.1_Intron	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													20	473					0	0	1	0	0	A	101487261	G	A	101487261	3	1	22	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	10912	13058											
ABCC2	1244	broad.mit.edu	37	chr10	101558978	101558979	+	Frame_Shift_Ins	INS	-	-	A													cctaggaagatgttgaaaagINSaaaaaaaagaagtctgggac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101558978_101558979insA	ENST00000370449.4	+	8	995_996	c.882_883insA	c.(880-885)aaaaaafs	p.KK294fs		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	294						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.K294N(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)	ATGTTGAAAAGAAAAAAAAGAA	0.441													7	1015	---	---	---	---						A	101558979	-	A	101558978	7	5	22	1	0	1	1	0	0	0	0	0	53	933	33	0	912	0	ABCC2	10	101558978	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	71717	101558978	33975769	10913	13059											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000383.1	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													93	413					0	0	1	0	0	C	101560322	T	C	101560322	5	2	22	1	0	0	0	0	0	0	1	0	53	1652	57	3	1245	3	ABCC2	10	101560322	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1344	101560322	33974425	10914	13060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000383.1	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													15	430					0	0	1	0	0	C	101572802	A	C	101572802	3	2	22	1	0	0	0	0	1	0	0	0	53	40	2	3	2057	3	ABCC2	10	101572802	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12480	101572802	33961945	10915	13061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101604222G>T	ENST00000370449.4	+	28	4100	c.3987_splice	c.e28+1	p.K1329_splice		NM_000392.3	NP_000383.1	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													88	386					1.0532e-45	1.29204e-45	1	1	0	T	101604222	G	T	101604222	5	4	22	1	0	0	0	0	0	0	1	0	53	1014	35	2	4097	2	ABCC2	10	101604222	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31420	101604222	33930525	10916	13062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000472036.1_5'UTR|DNMBP_ENST00000324109.4_Missense_Mutation_p.N1156K			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													121	531					7.99423e-63	1.00802e-62	1	1	0	T	101646207	G	T	101646207	3	4	22	1	0	0	0	0	1	0	0	0	4701	1020	36	2	1285	2	DNMBP	10	101646207	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41985	101646207	33888540	10917	13063											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	149					0	0	1	0	0	G	101654741	A	G	101654741	3	3	22	1	0	0	0	0	1	0	0	0	4701	14	1	3	1643	3	DNMBP	10	101654741	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8534	101654741	33880006	10918	13064											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	523					0	0	1	0	0	C	101659757	T	C	101659757	3	2	22	1	0	0	0	0	1	0	0	0	4701	1435	50	3	2156	3	DNMBP	10	101659757	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5016	101659757	33874990	10919	13065											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	375					0	0	1	0	0	A	101835819	G	A	101835819	3	1	22	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	10920	13066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	313					0	0	1	0	0	A	101912014	G	A	101912014	2	1	22	1	0	0	0	0	0	0	0	1	5260	1049	37	1		1	ERLIN1	10	101912014	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76195	101912014	33622733	10921	13067											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101964413A>G	ENST00000370397.7	-	13	1443	c.1355_splice	c.e13-1	p.L453_splice		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													41	158					0	0	1	0	0	G	101964413	A	G	101964413	5	3	22	1	0	0	0	0	0	0	1	0	3438	57	2	3	916	3	CHUK	10	101964413	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52399	101964413	33570334	10922	13068											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000338519.3_Missense_Mutation_p.A368D|PKD2L1_ENST00000353274.3_Missense_Mutation_p.A443D	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													58	309					5.47352e-35	6.52624e-35	1	1	0	T	102055907	G	T	102055907	3	4	22	1	0	0	0	0	1	0	0	0	12015	971	34	2	1129	2	PKD2L1	10	102055907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91494	102055907	33478840	10923	13069											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000338519.3_Missense_Mutation_p.E335K|PKD2L1_ENST00000353274.3_Missense_Mutation_p.E410K	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													46	195					0	0	1	0	0	T	102056007	C	T	102056007	3	4	22	1	0	0	0	0	1	0	0	0	12015	893	31	1	1229	1	PKD2L1	10	102056007	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100	102056007	33478740	10924	13070											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	518					0	0	1	0	0	T	102114262	C	T	102114262	4	4	22	1	0	0	0	0	0	1	0	0	13939	644	23	1	534	1	SCD	10	102114262	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58255	102114262	33420485	10925	13071											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													176	646					0	0	1	0	0	A	102265204	G	A	102265204	3	1	22	1	0	0	0	0	1	0	0	0	14053	1203	42	2	2514	2	SEC31B	10	102265204	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	150942	102265204	33269543	10926	13072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557395.1_Nonsense_Mutation_p.C144*|NDUFB8_ENST00000370320.4_Nonsense_Mutation_p.C144*|NDUFB8_ENST00000370322.1_Nonsense_Mutation_p.C113*|NDUFB8_ENST00000299166.4_Nonsense_Mutation_p.C144*|SEC31B_ENST00000535773.1_Intron			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													43	174					7.05121e-23	7.99584e-23	1	1	0	T	102286192	G	T	102286192	4	4	22	1	0	0	0	0	0	1	0	0	10334	963	34	2	136	2	NDUFB8	10	102286192	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20988	102286192	33248555	10927	13073											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102509502G>A	ENST00000370296.2	+	2	593		c.e2-1		PAX2_ENST00000553492.1_Intron|PAX2_ENST00000355243.3_Splice_Site|PAX2_ENST00000428433.1_Splice_Site|PAX2_ENST00000361791.3_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													70	287					0	0	1	0	0	A	102509502	G	A	102509502	5	1	22	1	0	0	0	0	0	0	1	0	11526	985	34	2	49	2	PAX2	10	102509502	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	223310	102509502	33025245	10928	13074											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553492.1_Intron|PAX2_ENST00000355243.3_Silent_p.P34P|PAX2_ENST00000428433.1_Silent_p.P34P|PAX2_ENST00000361791.3_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													64	304					0	0	1	0	0	T	102509561	C	T	102509561	2	4	22	1	0	0	0	0	0	0	0	1	11526	639	23	1		1	PAX2	10	102509561	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59	102509561	33025186	10929	13075											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355243.3_Intron|PAX2_ENST00000428433.1_Intron|PAX2_ENST00000361791.3_Missense_Mutation_p.A342V|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													78	348					0	0	1	0	0	T	102584662	C	T	102584662	3	4	22	1	0	0	0	0	1	0	0	0	11526	797	28	2	1132	2	PAX2	10	102584662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75101	102584662	32950085	10930	13076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102684141C>T	ENST00000238961.3	+	5	1531	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	461																	AAAATAAAACCGCTAGCTCCA	0.413													136	605					0	0	1	0	0	T	102684141	C	T	102684141	2	4	22	1	0	0	0	0	0	0	0	1	5533	639	23	1		1	FAM178A	10	102684141	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99479	102684141	32850606	10931	13077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102689733C>A	ENST00000238961.3	+	8	2460	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	771																	GGACAAAGTGCTGTAGAAAAA	0.279													37	215					1.90571e-15	2.08261e-15	1	1	0	A	102689733	C	A	102689733	3	1	22	1	0	0	0	0	1	0	0	0	5533	797	28	2	2342	2	FAM178A	10	102689733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5592	102689733	32845014	10932	13078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000342071.1_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000370250.4_Missense_Mutation_p.L684I|MRPL43_ENST00000318325.2_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000299179.5_Intron|SEMA4G_ENST00000517724.1_Intron			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													18	114					1.56452e-12	1.68123e-12	1	1	0	A	102743421	C	A	102743421	3	1	22	1	0	0	0	0	1	0	0	0	14090	797	28	2	2119	2	SEMA4G	10	102743421	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53688	102743421	32791326	10933	13079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000342071.1_Missense_Mutation_p.V173A|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Missense_Mutation_p.V173A|SEMA4G_ENST00000370250.4_Missense_Mutation_p.N803S|MRPL43_ENST00000318325.2_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000299179.5_Intron|SEMA4G_ENST00000517724.1_Intron			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													105	481					0	0	1	0	0	G	102743779	A	G	102743779	3	3	22	1	0	0	0	0	1	0	0	0	14090	43	2	3	2477	3	SEMA4G	10	102743779	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	358	102743779	32790968	10934	13080											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473656.1_Intron|C10orf2_ENST00000311916.2_Nonsense_Mutation_p.R406*	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													73	323					0	0	1	0	0	T	102749183	C	T	102749183	4	4	22	1	0	0	0	0	0	1	0	0	1601	876	31	1	1218	1	C10orf2	10	102749183	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5404	102749183	32785564	10935	13081											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	316					0	0	1	0	0	A	102763691	G	A	102763691	3	1	22	1	0	0	0	0	1	0	0	0	9185	971	34	2	842	2	LZTS2	10	102763691	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14508	102763691	32771056	10936	13082											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	238					1.80625e-27	2.09175e-27	1	1	0	A	102765260	C	A	102765260	3	1	22	1	0	0	0	0	1	0	0	0	9185	680	24	2	1124	2	LZTS2	10	102765260	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1569	102765260	32769487	10937	13083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	95					0	0	1	0	0	T	102766458	C	T	102766458	4	4	22	1	0	0	0	0	0	1	0	0	9185	760	27	1	1557	1	LZTS2	10	102766458	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1198	102766458	32768289	10938	13084											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	98					6.40141e-05	6.5221e-05	1	1	0	A	102766922	C	A	102766922	2	1	22	1	0	0	0	0	0	0	0	1	9185	903	32	2		2	LZTS2	10	102766922	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	464	102766922	32767825	10939	13085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	387					8.6838e-40	1.05102e-39	1	1	0	T	102777979	G	T	102777979	3	4	22	1	0	0	0	0	1	0	0	0	11751	962	34	2	162	2	PDZD7	10	102777979	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11057	102777979	32756768	10940	13086											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	289					9.13743e-30	1.06933e-29	1	1	0	A	102783309	C	A	102783309	3	1	22	1	0	0	0	0	1	0	0	0	11751	912	32	2	1155	2	PDZD7	10	102783309	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5330	102783309	32751438	10941	13087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	12					2.0095e-06	2.07161e-06	1	1	0	T	102988278	G	T	102988278	3	4	22	1	0	0	0	0	1	0	0	0	8692	962	34	2	558	2	LBX1	10	102988278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	204969	102988278	32546469	10942	13088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103285770C>A	ENST00000370187.3	+	6	675	c.556_splice	c.e6-1	p.A186_splice	BTRC_ENST00000408038.2_Splice_Site_p.A150_splice|BTRC_ENST00000393441.4_Splice_Site_p.A145_splice	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													27	116					4.7796e-09	5.01584e-09	1	1	0	A	103285770	C	A	103285770	5	1	22	1	0	0	0	0	0	0	1	0	1572	811	28	2	579	2	BTRC	10	103285770	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	297492	103285770	32248977	10943	13089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	DPCD_ENST00000470165.1_Intron|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000299206.4_Silent_p.S497S|POLL_ENST00000456836.2_Silent_p.S234S|POLL_ENST00000370169.1_Silent_p.S497S|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370158.3_Silent_p.S222S|POLL_ENST00000370168.3_Silent_p.S170S|POLL_ENST00000339310.3_Silent_p.S220S|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)					56	576					0	0	1	0	0	A	103339447	G	A	103339447	2	1	22	1	0	0	0	0	0	0	0	1	12253	1078	38	1		1	POLL	10	103339447	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53677	103339447	32195300	10944	13090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000299206.4_Missense_Mutation_p.R364H|POLL_ENST00000456836.2_Missense_Mutation_p.R101H|POLL_ENST00000370169.1_Missense_Mutation_p.R364H|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370158.3_Missense_Mutation_p.R89H|POLL_ENST00000370168.3_Missense_Mutation_p.R37H|POLL_ENST00000339310.3_Missense_Mutation_p.R87H|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)					97	336					0	0	1	0	0	T	103342623	C	T	103342623	3	4	22	1	0	0	0	0	1	0	0	0	12253	768	27	1	648	1	POLL	10	103342623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3176	103342623	32192124	10945	13091											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	DPCD_ENST00000470165.1_Intron|POLL_ENST00000299206.4_Nonsense_Mutation_p.E36*|POLL_ENST00000456836.2_Missense_Mutation_p.K17N|POLL_ENST00000436284.2_Intron|POLL_ENST00000370169.1_Nonsense_Mutation_p.E36*|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370158.3_Missense_Mutation_p.K19N|POLL_ENST00000339310.3_Missense_Mutation_p.K17N|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)					124	550					6.19368e-37	7.42852e-37	1	1	0	A	103347012	C	A	103347012	4	1	22	1	0	0	0	0	0	1	0	0	12253	922	32	2	1653	2	POLL	10	103347012	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4389	103347012	32187735	10946	13092											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	547					2.02578e-71	2.57604e-71	1	1	0	A	103427655	C	A	103427655	3	1	22	1	0	0	0	0	1	0	0	0	5800	797	28	2	500	2	FBXW4	10	103427655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80643	103427655	32107092	10947	13093											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344255.3_Silent_p.C145C|FGF8_ENST00000485728.1_5'UTR|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													8	334					0	0	1	0	0	A	103530353	G	A	103530353	2	1	22	1	0	0	0	0	0	0	0	1	5891	1079	38	1		1	FGF8	10	103530353	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102698	103530353	32004394	10948	13094											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	71					0	0	1	0	0	A	103542239	G	A	103542239	3	1	22	1	0	0	0	0	1	0	0	0	10637	1232	43	2	228	2	NPM3	10	103542239	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11886	103542239	31992508	10949	13095											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000439817.1_Silent_p.T374T|MGEA5_ENST00000357797.5_Silent_p.T374T|MGEA5_ENST00000370094.3_Silent_p.T427T	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													151	642					0	0	1	0	0	A	103559127	G	A	103559127	2	1	22	1	0	0	0	0	0	0	0	1	9604	1103	39	1		1	MGEA5	10	103559127	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16888	103559127	31975620	10950	13096											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000419011.2_3'UTR|MGEA5_ENST00000439817.1_Nonsense_Mutation_p.Y233*|MGEA5_ENST00000357797.5_Nonsense_Mutation_p.Y233*|MGEA5_ENST00000370094.3_Nonsense_Mutation_p.Y233*	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													54	177					0	0	1	0	0	C	103565854	A	C	103565854	4	2	22	1	0	0	0	0	0	1	0	0	9604	108	4	3	2095	3	MGEA5	10	103565854	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6727	103565854	31968893	10951	13097											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000419011.2_3'UTR|MGEA5_ENST00000439817.1_Missense_Mutation_p.I176V|MGEA5_ENST00000357797.5_Missense_Mutation_p.I176V|MGEA5_ENST00000370094.3_Missense_Mutation_p.I176V	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													144	626					0	0	1	0	0	C	103567613	T	C	103567613	3	2	22	1	0	0	0	0	1	0	0	0	9604	1406	49	3	2272	3	MGEA5	10	103567613	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1759	103567613	31967134	10952	13098											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	443					0	0	1	0	0	G	103766356	A	G	103766356	3	3	22	1	0	0	0	0	1	0	0	0	1620	275	10	3	1132	3	C10orf76	10	103766356	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	198743	103766356	31768391	10953	13099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	326					0	0	1	0	0	T	103783272	C	T	103783272	3	4	22	1	0	0	0	0	1	0	0	0	1620	536	19	1	1514	1	C10orf76	10	103783272	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16916	103783272	31751475	10954	13100											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	271					3.19069e-20	3.57165e-20	1	1	0	A	103869426	C	A	103869426	3	1	22	1	0	0	0	0	1	0	0	0	8734	912	32	2	588	2	LDB1	10	103869426	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86154	103869426	31665321	10955	13101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	426					0	0	1	0	0	C	103900616	A	C	103900616	3	2	22	1	0	0	0	0	1	0	0	0	12459	304	11	3	2369	3	PPRC1	10	103900616	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31190	103900616	31634131	10956	13102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	379					0	0	1	0	0	T	103901019	C	T	103901019	2	4	22	1	0	0	0	0	0	0	0	1	12459	610	22	2		2	PPRC1	10	103901019	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	403	103901019	31633728	10957	13103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413464.2_Silent_p.S1208S|PPRC1_ENST00000489648.1_3'UTR|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													12	421					6.40141e-05	6.5221e-05	1	1	0	A	103908144	C	A	103908144	2	1	22	1	0	0	0	0	0	0	0	1	12459	668	24	2		2	PPRC1	10	103908144	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7125	103908144	31626603	10958	13104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413464.2_Missense_Mutation_p.R1292Q|PPRC1_ENST00000489648.1_3'UTR|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													43	234					0	0	1	0	0	A	103908623	G	A	103908623	3	1	22	1	0	0	0	0	1	0	0	0	12459	1058	37	1	4713	1	PPRC1	10	103908623	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	479	103908623	31626124	10959	13105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000605788.1_Silent_p.P608P|NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000603742.1_Silent_p.P327P|NOLC1_ENST00000488254.2_Silent_p.P609P			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													33	139					0	0	1	0	0	C	103921395	T	C	103921395	2	2	22	1	0	0	0	0	0	0	0	1	10576	1509	53	3		3	NOLC1	10	103921395	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12772	103921395	31613352	10960	13106											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	405					0	0	1	0	0	C	103986348	T	C	103986348	3	2	22	1	0	0	0	0	1	0	0	0	5103	1725	60	3	45	3	ELOVL3	10	103986348	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64953	103986348	31548399	10961	13107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103991721G>A	ENST00000370002.3	-	2	270	c.118_splice	c.e2+1	p.S39_splice	PITX3_ENST00000539804.1_Splice_Site_p.S39_splice	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													16	187					0	0	1	0	0	A	103991721	G	A	103991721	5	1	22	1	0	0	0	0	0	0	1	0	12004	1101	38	1	803	1	PITX3	10	103991721	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5373	103991721	31543026	10962	13108											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	270					0	0	1	0	0	T	104119161	C	T	104119161	2	4	22	1	0	0	0	0	0	0	0	1	6311	755	27	1		1	GBF1	10	104119161	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127440	104119161	31415586	10963	13109											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	303					0	0	1	0	0	G	104121533	A	G	104121533	3	3	22	1	0	0	0	0	1	0	0	0	6311	304	11	3	1597	3	GBF1	10	104121533	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2372	104121533	31413214	10964	13110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	323					1.07363e-35	1.28291e-35	1	1	0	A	104136495	C	A	104136495	3	1	22	1	0	0	0	0	1	0	0	0	6311	681	24	2	4345	2	GBF1	10	104136495	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14962	104136495	31398252	10965	13111											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	276					0	0	1	0	0	T	104136509	C	T	104136509	3	4	22	1	0	0	0	0	1	0	0	0	6311	797	28	2	4359	2	GBF1	10	104136509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14	104136509	31398238	10966	13112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								41	171					0	0	1	0	0	T	104156690	C	T	104156690	2	4	22	1	0	0	0	0	0	0	0	1	10423	874	31	1		1	NFKB2	10	104156690	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20181	104156690	31378057	10967	13113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								20	1173					0	0	1	0	0	T	104157352	C	T	104157352	3	4	22	1	0	0	0	0	1	0	0	0	10423	759	27	1	597	1	NFKB2	10	104157352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	662	104157352	31377395	10968	13114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	226					0	0	1	0	0	T	104183780	C	T	104183780	2	4	22	1	0	0	0	0	0	0	0	1	4076	726	26	2		2	CUEDC2	10	104183780	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26428	104183780	31350967	10969	13115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366277.2_Intron|TMEM180_ENST00000369931.3_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													181	694					0	0	1	0	0	T	104230514	C	T	104230514	3	4	22	1	0	0	0	0	1	0	0	0	16159	768	27	1	354	1	TMEM180	10	104230514	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46734	104230514	31304233	10970	13116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369899.2_Missense_Mutation_p.S165I|SUFU_ENST00000423559.2_Missense_Mutation_p.S165I|SUFU_ENST00000471000.1_3'UTR	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				122	481					3.75716e-53	4.6801e-53	1	1	0	T	104352378	G	T	104352378	3	4	22	1	0	0	0	0	1	0	0	0	15424	971	34	2	508	2	SUFU	10	104352378	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121864	104352378	31182369	10971	13117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104416127C>T	ENST00000302424.6	+	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	345						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													24	100					0	0	1	0	0	T	104416127	C	T	104416127	3	4	22	1	0	0	0	0	1	0	0	0	16609	759	27	1	1051	1	TRIM8	10	104416127	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63749	104416127	31118620	10972	13118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	74	387					2.15109e-50	2.66539e-50	1	1	0	A	104594579	C	A	104594579	3	1	22	1	0	0	0	0	1	0	0	0	4170	797	28	2	921	2	CYP17A1	10	104594579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178452	104594579	30940168	10973	13119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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													102	382					0	0	1	0	0	G	104650340	A	G	104650340	3	3	22	1	0	0	0	0	1	0	0	0	1004	449	16	3	963	3	AS3MT	10	104650340	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	55761	104650340	30884407	10974	13120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104679703C>T	ENST00000369878.3	+	1	1590	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F	CNNM2_ENST00000369875.3_Missense_Mutation_p.S489F|CNNM2_ENST00000433628.2_Missense_Mutation_p.S489F|CNNM2_ENST00000457502.2_Missense_Mutation_p.S247F	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	489	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													71	367					0	0	1	0	0	T	104679703	C	T	104679703	3	4	22	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	10975	13121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104679834G>A	ENST00000369878.3	+	1	1721	c.1597G>A	c.(1597-1599)Gct>Act	p.A533T	CNNM2_ENST00000369875.3_Missense_Mutation_p.A533T|CNNM2_ENST00000433628.2_Missense_Mutation_p.A533T|CNNM2_ENST00000457502.2_Missense_Mutation_p.A291T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	533	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													81	714					0	0	1	0	0	A	104679834	G	A	104679834	3	1	22	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	10976	13122											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104836929G>A	ENST00000369878.3	+	8	2744	c.2620G>A	c.(2620-2622)Gcc>Acc	p.A874T	CNNM2_ENST00000433628.2_Missense_Mutation_p.A852T|CNNM2_ENST00000457502.2_Missense_Mutation_p.A632T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	874					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													57	293					0	0	1	0	0	A	104836929	G	A	104836929	3	1	22	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	10977	13123											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	132					0	0	1	0	0	A	105036934	G	A	105036934	1	1	22	1	0	0	0	0	0	0	0	0	7774	1160	40	1		1	INA	10	105036934	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200005	105036934	30497813	10978	13124											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	181					4.87955e-14	5.28594e-14	1	1	0	T	105037253	G	T	105037253	3	4	22	1	0	0	0	0	1	0	0	0	7774	991	35	2	287	2	INA	10	105037253	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	319	105037253	30497494	10979	13125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000337211.4_Missense_Mutation_p.L263I|PCGF6_ENST00000490296.1_5'UTR	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													12	361					7.03913e-09	7.37812e-09	1	1	0	T	105063703	G	T	105063703	3	4	22	1	0	0	0	0	1	0	0	0	11625	1000	35	2	44	2	PCGF6	10	105063703	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26450	105063703	30471044	10980	13126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	175					0	0	1	0	0	A	105152192	G	A	105152192	3	1	22	1	0	0	0	0	1	0	0	0	17098	1087	38	1	161	1	USMG5	10	105152192	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88489	105152192	30382555	10981	13127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	376					1.02487e-32	1.21166e-32	1	1	0	A	105164918	C	A	105164918	3	1	22	1	0	0	0	0	1	0	0	0	11664	797	28	2	556	2	PDCD11	10	105164918	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12726	105164918	30369829	10982	13128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	365					2.59497e-14	2.81812e-14	1	1	0	T	105172912	G	T	105172912	3	4	22	1	0	0	0	0	1	0	0	0	11664	1029	36	2	1048	2	PDCD11	10	105172912	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7994	105172912	30361835	10983	13129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	402					0	0	1	0	0	A	105177682	T	A	105177682	3	1	22	1	0	0	0	0	1	0	0	0	11664	1493	52	5	1954	5	PDCD11	10	105177682	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4770	105177682	30357065	10984	13130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	372					0	0	1	0	0	C	105198541	T	C	105198541	3	2	22	1	0	0	0	0	1	0	0	0	11664	1435	50	3	4103	3	PDCD11	10	105198541	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20859	105198541	30336206	10985	13131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	281					0	0	1	0	0	T	105206962	C	T	105206962	3	4	22	1	0	0	0	0	1	0	0	0	2601	739	26	2	56	2	CALHM2	10	105206962	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8421	105206962	30327785	10986	13132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	380					0	0	1	0	0	T	105207135	C	T	105207135	3	4	22	1	0	0	0	0	1	0	0	0	2601	768	27	1	229	1	CALHM2	10	105207135	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	173	105207135	30327612	10987	13133											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	222					6.32628e-17	6.96643e-17	1	1	0	T	105218206	G	T	105218206	4	4	22	1	0	0	0	0	0	1	0	0	2600	963	34	2	745	2	CALHM1	10	105218206	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11071	105218206	30316541	10988	13134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	240					0	0	1	0	0	T	105218421	C	T	105218421	3	4	22	1	0	0	0	0	1	0	0	0	2600	739	26	2	960	2	CALHM1	10	105218421	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	215	105218421	30316326	10989	13135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540321.1_Missense_Mutation_p.L659I|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.L764I|SH3PXD2A_ENST00000427662.2_Intron			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													259	1138					5.1204e-76	6.53267e-76	1	1	0	T	105362601	G	T	105362601	3	4	22	1	0	0	0	0	1	0	0	0	14311	971	34	2	1031	2	SH3PXD2A	10	105362601	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144180	105362601	30172146	10990	13136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540321.1_Missense_Mutation_p.R646W|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R751W|SH3PXD2A_ENST00000427662.2_Intron			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													316	1416					0	0	1	0	0	A	105362640	G	A	105362640	3	1	22	1	0	0	0	0	1	0	0	0	14311	1144	40	1	1070	1	SH3PXD2A	10	105362640	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	105362640	30172107	10991	13137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540321.1_Missense_Mutation_p.A366T|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A471T|SH3PXD2A_ENST00000427662.2_Intron			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													33	300					0	0	1	0	0	T	105363480	C	T	105363480	3	4	22	1	0	0	0	0	1	0	0	0	14311	768	27	1	1910	1	SH3PXD2A	10	105363480	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	840	105363480	30171267	10992	13138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540321.1_Silent_p.A258A|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.A363A|SH3PXD2A_ENST00000427662.2_Silent_p.A253A			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													13	300					0	0	1	0	0	A	105372695	G	A	105372695	2	1	22	1	0	0	0	0	0	0	0	1	14311	1103	39	1		1	SH3PXD2A	10	105372695	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9215	105372695	30162052	10993	13139											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	326					0	0	1	0	0	T	105657393	C	T	105657393	2	4	22	1	0	0	0	0	0	0	0	1	10855	912	32	2		2	OBFC1	10	105657393	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	284698	105657393	29877354	10994	13140											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	191					9.84934e-19	1.0948e-18	1	1	0	A	105670293	C	A	105670293	3	1	22	1	0	0	0	0	1	0	0	0	10855	565	20	2	917	2	OBFC1	10	105670293	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12900	105670293	29864454	10995	13141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	451					0	0	1	0	0	A	105761972	G	A	105761972	3	1	22	1	0	0	0	0	1	0	0	0	14802	1087	38	1	1070	1	SLK	10	105761972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91679	105761972	29772775	10996	13142											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	549					0	0	1	0	0	A	105779604	G	A	105779604	3	1	22	1	0	0	0	0	1	0	0	0	14802	1058	37	1	3307	1	SLK	10	105779604	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17632	105779604	29755143	10997	13143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	146					0	0	1	0	0	T	105801279	C	T	105801279	3	4	22	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	10998	13144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	51					0	0	1	0	0	A	105813871	G	A	105813871	4	1	22	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	10999	13145											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	474					6.59513e-52	8.19535e-52	1	1	0	T	105836072	G	T	105836072	2	4	22	1	0	0	0	0	0	0	0	1	3697	1190	42	2		2	COL17A1	10	105836072	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22201	105836072	29698675	11000	13146											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106037862G>A	ENST00000450629.2	+	4	982	c.354G>A	c.(352-354)gaG>gaA	p.E118E	GSTO2_ENST00000429569.2_Silent_p.E90E|GSTO2_ENST00000338595.2_Silent_p.E118E|GSTO2_ENST00000369707.1_Silent_p.E90E|GSTO2_ENST00000401888.2_Silent_p.E118E|GSTO2_ENST00000477078.2_3'UTR	NM_001191013.1	NP_001177942.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	118	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)	TGTTATTGGAGCTATTTTGTA	0.373													23	128					0	0	1	0	0	A	106037862	G	A	106037862	2	1	22	1	0	0	0	0	0	0	0	1	6884	962	34	2		2	GSTO2	10	106037862	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201790	106037862	29496885	11001	13147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106058905G>A	ENST00000450629.2	+	6	1121	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	GSTO2_ENST00000429569.2_Missense_Mutation_p.S101N|GSTO2_ENST00000338595.2_Missense_Mutation_p.A199T|GSTO2_ENST00000369707.1_Missense_Mutation_p.A171T	NM_001191013.1	NP_001177942.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	199	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													70	350					0	0	1	0	0	A	106058905	G	A	106058905	3	1	22	1	0	0	0	0	1	0	0	0	6884	971	34	2	617	2	GSTO2	10	106058905	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21043	106058905	29475842	11002	13148											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358187.2_Missense_Mutation_p.M344I|ITPRIP_ENST00000337478.1_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													85	402					0	0	1	0	0	T	106074778	C	T	106074778	3	4	22	1	0	0	0	0	1	0	0	0	7967	710	25	2	615	2	ITPRIP	10	106074778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15873	106074778	29459969	11003	13149											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358187.2_Missense_Mutation_p.L178I|ITPRIP_ENST00000337478.1_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													81	416					1.3515e-34	1.60831e-34	1	1	0	T	106075278	G	T	106075278	3	4	22	1	0	0	0	0	1	0	0	0	7967	1000	35	2	1115	2	ITPRIP	10	106075278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	500	106075278	29459469	11004	13150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358187.2_Silent_p.G166G|ITPRIP_ENST00000337478.1_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													75	387					8.27458e-37	9.91862e-37	1	1	0	T	106075312	G	T	106075312	2	4	22	1	0	0	0	0	0	0	0	1	7967	958	34	2		2	ITPRIP	10	106075312	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	106075312	29459435	11005	13151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358187.2_Missense_Mutation_p.L53S|ITPRIP_ENST00000337478.1_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													125	554					0	0	1	0	0	G	106075652	A	G	106075652	3	3	22	1	0	0	0	0	1	0	0	0	7967	131	5	3	1489	3	ITPRIP	10	106075652	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	340	106075652	29459095	11006	13152											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	207					0	0	1	0	0	T	106937871	C	T	106937871	3	4	22	1	0	0	0	0	1	0	0	0	14986	893	31	1	2003	1	SORCS3	10	106937871	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	862219	106937871	28596876	11007	13153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	433					0	0	1	0	0	A	106959834	G	A	106959834	3	1	22	1	0	0	0	0	1	0	0	0	14986	1319	46	2	2145	2	SORCS3	10	106959834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21963	106959834	28574913	11008	13154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	427					0	0	1	0	0	C	106974214	T	C	106974214	3	2	22	1	0	0	0	0	1	0	0	0	14986	1696	59	3	2460	3	SORCS3	10	106974214	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14380	106974214	28560533	11009	13155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	157					0	0	1	0	0	T	107016608	C	T	107016608	2	4	22	1	0	0	0	0	0	0	0	1	14986	709	25	2		2	SORCS3	10	107016608	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42394	107016608	28518139	11010	13156											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	139					0	0	1	0	0	A	108923970	G	A	108923970	2	1	22	1	0	0	0	0	0	0	0	1	14984	1103	39	1		1	SORCS1	10	108923970	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1907362	108923970	26610777	11011	13157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356080.4_Missense_Mutation_p.N188D|ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Missense_Mutation_p.N188D	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													40	177					0	0	1	0	0	G	111877175	A	G	111877175	3	3	22	1	0	0	0	0	1	0	0	0	305	130	5	3	576	3	ADD3	10	111877175	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2953205	111877175	23657572	11012	13158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	266					4.1673e-28	4.84001e-28	1	1	0	T	112328724	G	T	112328724	3	4	22	1	0	0	0	0	1	0	0	0	14838	942	33	2	50	2	SMC3	10	112328724	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	451549	112328724	23206023	11013	13159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	252					0	0	1	0	0	A	112335133	G	A	112335133	3	1	22	1	0	0	0	0	1	0	0	0	14838	1145	40	1	184	1	SMC3	10	112335133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6409	112335133	23199614	11014	13160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	344					0	0	1	0	0	A	112724738	G	A	112724738	3	1	22	1	0	0	0	0	1	0	0	0	14342	1175	41	2	624	2	SHOC2	10	112724738	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	389605	112724738	22810009	11015	13161											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	289					0	0	1	0	0	A	112771563	G	A	112771563	3	1	22	1	0	0	0	0	1	0	0	0	14342	1145	40	1	1766	1	SHOC2	10	112771563	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46825	112771563	22763184	11016	13162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													142	665					0	0	1	0	0	A	112839042	G	A	112839042	3	1	22	1	0	0	0	0	1	0	0	0	336	1116	39	1	1290	1	ADRA2A	10	112839042	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67479	112839042	22695705	11017	13163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000423155.1_Missense_Mutation_p.D666Y|GPAM_ENST00000369425.1_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													56	233					4.88482e-21	5.49248e-21	1	1	0	A	113917132	C	A	113917132	3	1	22	1	0	0	0	0	1	0	0	0	6628	913	32	2	506	2	GPAM	10	113917132	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1078090	113917132	21617615	11018	13164											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000423155.1_Missense_Mutation_p.D281N|GPAM_ENST00000369425.1_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													67	329					0	0	1	0	0	T	113928664	C	T	113928664	3	4	22	1	0	0	0	0	1	0	0	0	6628	884	31	1	1697	1	GPAM	10	113928664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11532	113928664	21606083	11019	13165											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000423155.1_Missense_Mutation_p.I83T|GPAM_ENST00000369425.1_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													40	189					0	0	1	0	0	G	113937793	A	G	113937793	3	3	22	1	0	0	0	0	1	0	0	0	6628	333	12	3	2310	3	GPAM	10	113937793	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9129	113937793	21596954	11020	13166											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	224					1.0442e-30	1.22599e-30	1	1	0	T	114053586	G	T	114053586	3	4	22	1	0	0	0	0	1	0	0	0	15807	1000	35	2	592	2	TECTB	10	114053586	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115793	114053586	21481161	11021	13167											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	208					0	0	1	0	0	T	114053768	C	T	114053768	3	4	22	1	0	0	0	0	1	0	0	0	15807	507	18	2	642	2	TECTB	10	114053768	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182	114053768	21480979	11022	13168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	267					0	0	1	0	0	T	114057903	C	T	114057903	3	4	22	1	0	0	0	0	1	0	0	0	15807	643	23	1	774	1	TECTB	10	114057903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4135	114057903	21476844	11023	13169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354655.4_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_ENST00000354273.4_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													29	153					0	0	1	0	0	A	114170354	G	A	114170354	3	1	22	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	11024	13170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	284					0	0	1	0	0	T	114190566	C	T	114190566	3	4	22	1	0	0	0	0	1	0	0	0	17677	913	32	2	7	2	ZDHHC6	10	114190566	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20212	114190566	21344181	11025	13171											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								68	281					0	0	1	0	0	T	114575062	C	T	114575062	3	4	22	1	0	0	0	0	1	0	0	0	17295	652	23	1	604	1	VTI1A	10	114575062	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	384496	114575062	20959685	11026	13172											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114918429A>G	ENST00000545257.1	+	13	1829	c.1322A>G	c.(1321-1323)cAc>cGc	p.H441R	TCF7L2_ENST00000538897.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000369386.1_Intron|TCF7L2_ENST00000355995.4_Missense_Mutation_p.H441R|TCF7L2_ENST00000369397.4_Missense_Mutation_p.H418R|TCF7L2_ENST00000536810.1_Intron|TCF7L2_ENST00000534894.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000542695.1_Missense_Mutation_p.H157R|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000352065.5_Missense_Mutation_p.H418R|TCF7L2_ENST00000466338.1_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								54	256					0	0	1	0	0	G	114918429	A	G	114918429	3	3	22	1	0	0	0	0	1	0	0	0	15758	159	6	3	1517	3	TCF7L2	10	114918429	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	343367	114918429	20616318	11027	13173											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	218					0	0	1	0	0	C	115345621	A	C	115345621	3	2	22	1	0	0	0	0	1	0	0	0	6979	130	5	3	1488	3	HABP2	10	115345621	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	427192	115345621	20189126	11028	13174											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369360.3_Missense_Mutation_p.A1476T|NRAP_ENST00000360478.3_Missense_Mutation_p.A1468T|NRAP_ENST00000359988.3_Missense_Mutation_p.A1503T			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													80	347					0	0	1	0	0	T	115355411	C	T	115355411	3	4	22	1	0	0	0	0	1	0	0	0	10686	797	28	2	705	2	NRAP	10	115355411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9790	115355411	20179336	11029	13175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369360.3_Missense_Mutation_p.G1273V|NRAP_ENST00000360478.3_Missense_Mutation_p.G1265V|NRAP_ENST00000359988.3_Missense_Mutation_p.G1300V			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													391	1832					2.62042e-76	3.34351e-76	1	1	0	A	115365537	C	A	115365537	3	1	22	1	0	0	0	0	1	0	0	0	10686	855	30	2	1329	2	NRAP	10	115365537	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10126	115365537	20169210	11030	13176											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369360.3_Missense_Mutation_p.V703A|NRAP_ENST00000360478.3_Missense_Mutation_p.V695A|NRAP_ENST00000359988.3_Missense_Mutation_p.V730A			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													19	85					0	0	1	0	0	G	115385861	A	G	115385861	3	3	22	1	0	0	0	0	1	0	0	0	10686	159	6	3	3091	3	NRAP	10	115385861	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20324	115385861	20148886	11031	13177											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369315.1_Missense_Mutation_p.V149I|CASP7_ENST00000345633.4_Missense_Mutation_p.V149I|CASP7_ENST00000369331.4_Splice_Site|CASP7_ENST00000369318.3_Missense_Mutation_p.V149I	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													50	255					0	0	1	0	0	A	115485189	G	A	115485189	3	1	22	1	0	0	0	0	1	0	0	0	2694	1391	48	2	562	2	CASP7	10	115485189	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99328	115485189	20049558	11032	13178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	357					0	0	1	0	0	G	115636517	A	G	115636517	3	3	22	1	0	0	0	0	1	0	0	0	10453	449	16	3	579	3	NHLRC2	10	115636517	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	151328	115636517	19898230	11033	13179											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	33					0	0	1	0	0	T	115805121	C	T	115805121	2	4	22	1	0	0	0	0	0	0	0	1	339	755	27	1		1	ADRB1	10	115805121	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168604	115805121	19729626	11034	13180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	188					0	0	1	0	0	T	115884935	C	T	115884935	2	4	22	1	0	0	0	0	0	0	0	1	1591	796	28	2		2	C10orf118	10	115884935	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79814	115884935	19649812	11035	13181											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	260					0	0	1	0	0	A	115887367	G	A	115887367	3	1	22	1	0	0	0	0	1	0	0	0	1591	971	34	2	462	2	C10orf118	10	115887367	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2432	115887367	19647380	11036	13182											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	299					0	0	1	0	0	G	115904338	T	G	115904338	3	3	22	1	0	0	0	0	1	0	0	0	1591	1841	64	3	1601	3	C10orf118	10	115904338	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16971	115904338	19630409	11037	13183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369282.1_Missense_Mutation_p.D466Y|TDRD1_ENST00000422662.1_Missense_Mutation_p.D127Y|TDRD1_ENST00000369281.2_Missense_Mutation_p.D466Y|TDRD1_ENST00000369280.1_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													7	176					8.12818e-05	8.2724e-05	1	1	0	T	115970351	G	T	115970351	3	4	22	1	0	0	0	0	1	0	0	0	15789	942	33	2	1438	2	TDRD1	10	115970351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66013	115970351	19564396	11038	13184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369282.1_Silent_p.T1032T|TDRD1_ENST00000422662.1_Silent_p.T636T|TDRD1_ENST00000369281.2_Silent_p.T918T|TDRD1_ENST00000369280.1_Silent_p.T1032T	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													80	311					0	0	1	0	0	T	115985896	C	T	115985896	2	4	22	1	0	0	0	0	0	0	0	1	15789	610	22	2		2	TDRD1	10	115985896	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15545	115985896	19548851	11039	13185											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545353.1_Missense_Mutation_p.S604I|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.S551I|AFAP1L2_ENST00000491814.1_5'UTR	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													12	336					3.07112e-06	3.16074e-06	1	1	0	A	116060340	C	A	116060340	3	1	22	1	0	0	0	0	1	0	0	0	354	797	28	2	828	2	AFAP1L2	10	116060340	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74444	116060340	19474407	11040	13186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116092980C>A	ENST00000369271.3	-	3	520	c.220_splice	c.e3+1	p.A74_splice	AFAP1L2_ENST00000545353.1_Splice_Site_p.A74_splice|AFAP1L2_ENST00000304129.4_Splice_Site_p.A74_splice	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													89	364					7.49063e-41	9.091e-41	1	1	0	A	116092980	C	A	116092980	5	1	22	1	0	0	0	0	0	0	1	0	354	695	24	2	2304	2	AFAP1L2	10	116092980	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32640	116092980	19441767	11041	13187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369266.3_Missense_Mutation_p.R427W|ABLIM1_ENST00000369253.2_Missense_Mutation_p.R373W|ABLIM1_ENST00000392952.3_Missense_Mutation_p.R427W|ABLIM1_ENST00000533213.2_Missense_Mutation_p.R690W|ABLIM1_ENST00000277895.5_Missense_Mutation_p.R750W	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													74	346					0	0	1	0	0	A	116196108	G	A	116196108	3	1	22	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	11042	13188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369266.3_Missense_Mutation_p.S309F|ABLIM1_ENST00000369253.2_Missense_Mutation_p.S255F|ABLIM1_ENST00000392952.3_Missense_Mutation_p.S309F|ABLIM1_ENST00000533213.2_Missense_Mutation_p.S572F|ABLIM1_ENST00000277895.5_Missense_Mutation_p.S632F	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													126	488					0	0	1	0	0	A	116203826	G	A	116203826	3	1	22	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	11043	13189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	472					3.65642e-31	4.30041e-31	1	1	0	A	116417899	C	A	116417899	3	1	22	1	0	0	0	0	1	0	0	0	94	565	20	2	2451	2	ABLIM1	10	116417899	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	214073	116417899	19116848	11044	13190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													209	951					0	0	1	0	0	T	116595962	C	T	116595962	3	4	22	1	0	0	0	0	1	0	0	0	5500	768	27	1	497	1	FAM160B1	10	116595962	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178063	116595962	18938785	11045	13191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116710908G>A	ENST00000298746.3	+	3	502	c.441_splice	c.e3+1	p.K147_splice	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													34	441					0	0	1	0	0	A	116710908	G	A	116710908	5	1	22	1	0	0	0	0	0	0	1	0	16663	1014	35	2	451	2	TRUB1	10	116710908	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114946	116710908	18823839	11046	13192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	176					1.06801e-11	1.14091e-11	1	1	0	T	116925332	G	T	116925332	3	4	22	1	0	0	0	0	1	0	0	0	1205	971	34	2	1045	2	ATRNL1	10	116925332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214424	116925332	18609415	11047	13193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	315					5.88579e-26	6.76971e-26	1	1	0	T	117024714	G	T	117024714	3	4	22	1	0	0	0	0	1	0	0	0	1205	942	33	2	1774	2	ATRNL1	10	117024714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99382	117024714	18510033	11048	13194											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	369					0	0	1	0	0	C	117026306	T	C	117026306	3	2	22	1	0	0	0	0	1	0	0	0	1205	1638	57	3	1851	3	ATRNL1	10	117026306	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1592	117026306	18508441	11049	13195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_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													9	294					0	0	1	0	0	C	117093850	A	C	117093850	3	2	22	1	0	0	0	0	1	0	0	0	1205	11	1	3	3170	3	ATRNL1	10	117093850	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67544	117093850	18440897	11050	13196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544592.1_Missense_Mutation_p.R138H|GFRA1_ENST00000369236.1_Missense_Mutation_p.R254H	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													17	69					0	0	1	0	0	T	117856270	C	T	117856270	3	4	22	1	0	0	0	0	1	0	0	0	6389	768	27	1	641	1	GFRA1	10	117856270	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	762420	117856270	17678477	11051	13197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544592.1_Missense_Mutation_p.R69H|GFRA1_ENST00000369236.1_Missense_Mutation_p.R185H	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													53	182					0	0	1	0	0	T	117884933	C	T	117884933	3	4	22	1	0	0	0	0	1	0	0	0	6389	768	27	1	852	1	GFRA1	10	117884933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28663	117884933	17649814	11052	13198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	476					0	0	1	0	0	C	118231349	T	C	118231349	3	2	22	1	0	0	0	0	1	0	0	0	12200	1638	57	3	1168	3	PNLIPRP3	10	118231349	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	346416	118231349	17303398	11053	13199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	557					2.70677e-71	3.44148e-71	1	1	0	A	118307977	C	A	118307977	3	1	22	1	0	0	0	0	1	0	0	0	12197	796	28	2	317	2	PNLIP	10	118307977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76628	118307977	17226770	11054	13200											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	55					0	0	1	0	0	A	118380475	G	A	118380475	1	1	22	0	1	0	0	0	0	0	0	0	12199	986	34	2		2	PNLIPRP2	10	118380475	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72498	118380475	17154272	11055	13201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118385552G>A	ENST00000537242.1	+	0	326				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_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													25	132					0	0	1	0	0	A	118385552	G	A	118385552	1	1	22	0	1	0	0	0	0	0	0	0	12199	1103	39	1		1	PNLIPRP2	10	118385552	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5077	118385552	17149195	11056	13202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118394364T>G	ENST00000537242.1	+	0	856				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_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													9	197					0	0	1	0	0	G	118394364	T	G	118394364	1	3	22	0	1	0	0	0	0	0	0	0	12199	1841	64	3		3	PNLIPRP2	10	118394364	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8812	118394364	17140383	11057	13203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	82					0	0	1	0	0	A	118404618	G	A	118404618	1	1	22	0	1	0	0	0	0	0	0	0	12199	1334	46	2		2	PNLIPRP2	10	118404618	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10254	118404618	17130129	11058	13204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	102					0	0	1	0	0	A	118434865	G	A	118434865	2	1	22	1	0	0	0	0	0	0	0	1	7447	1103	39	1		1	HSPA12A	10	118434865	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30247	118434865	17099882	11059	13205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	421					1.25439e-55	1.56857e-55	1	1	0	A	118458251	C	A	118458251	5	1	22	1	0	0	0	0	0	0	1	0	7447	695	24	2	1618	2	HSPA12A	10	118458251	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23386	118458251	17076496	11060	13206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|ENO4_ENST00000369207.2_Intron|KIAA1598_ENST00000260777.10_3'UTR|KIAA1598_ENST00000392903.2_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													4	21					0	0	1	0	0	A	118645867	G	A	118645867	2	1	22	1	0	0	0	0	0	0	0	1	8288	962	34	2		2	KIAA1598	10	118645867	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	187616	118645867	16888880	11061	13207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392901.4_Silent_p.C382C|KIAA1598_ENST00000260777.10_Silent_p.C442C|KIAA1598_ENST00000392903.2_Silent_p.C442C	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													51	238					0	0	1	0	0	A	118671334	G	A	118671334	2	1	22	1	0	0	0	0	0	0	0	1	8288	1079	38	1		1	KIAA1598	10	118671334	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25467	118671334	16863413	11062	13208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392901.4_5'UTR|KIAA1598_ENST00000260777.10_Silent_p.G22G|KIAA1598_ENST00000392903.2_Silent_p.G22G	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													41	256					0	0	1	0	0	A	118738812	G	A	118738812	2	1	22	1	0	0	0	0	0	0	0	1	8288	1074	38	1		1	KIAA1598	10	118738812	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67478	118738812	16795935	11063	13209	81	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118738814C>A	ENST00000392901.4	-	0	351				KIAA1598_ENST00000355371.4_Missense_Mutation_p.G22C|KIAA1598_ENST00000260777.10_Missense_Mutation_p.G22C|KIAA1598_ENST00000392903.2_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													39	253					8.16904e-11	8.68463e-11	1	1	0	A	118738814	C	A	118738814	1	1	22	1	0	0	0	0	0	0	0	0	8288	681	24	2		2	KIAA1598	10	118738814	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2	118738814	16795933	11064	13210	81	2									
VAX1	11023	broad.mit.edu	37	chr10	118891804	118891804	+	Frame_Shift_Del	DEL	T	T	-													ttcttccttttcttcttttgTttttttatccttcaaatata							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118891804delT	ENST00000277905.2	-	4	721	c.477delA	c.(475-477)aafs	p.K159fs		NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	154						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TCTTCTTTTGTTTTTTTATCC	0.423													34	361	---	---	---	---						-	118891804	T	-	118891804	7	5	22	1	0	1	0	1	0	0	0	0	17194	1722	60	0	87	0	VAX1	10	118891804	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	152990	118891804	16642943	11065	13211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	247					5.80444e-35	6.91851e-35	1	1	0	A	118896084	C	A	118896084	4	1	22	1	0	0	0	0	0	1	0	0	17194	864	30	2	824	2	VAX1	10	118896084	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4280	118896084	16638663	11066	13212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													171	785					0	0	1	0	0	T	118960693	C	T	118960693	3	4	22	1	0	0	0	0	1	0	0	0	8109	913	32	2	253	2	KCNK18	10	118960693	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64609	118960693	16574054	11067	13213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	124					0	0	1	0	0	A	119003516	G	A	119003516	2	1	22	1	0	0	0	0	0	0	0	1	14481	962	34	2		2	SLC18A2	10	119003516	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42823	119003516	16531231	11068	13214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	104					0	0	1	0	0	A	119003809	G	A	119003809	3	1	22	1	0	0	0	0	1	0	0	0	14481	1174	41	2	455	2	SLC18A2	10	119003809	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	293	119003809	16530938	11069	13215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	362					0.00307968	0.00310409	1	1	0	A	119134343	C	A	119134343	3	1	22	1	0	0	0	0	1	0	0	0	11752	912	32	2	3088	2	PDZD8	10	119134343	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130534	119134343	16400404	11070	13216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Missense_Mutation_p.G62D	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													38	127					0	0	1	0	0	A	119302963	G	A	119302963	3	1	22	1	0	0	0	0	1	0	0	0	5136	1203	42	2	187	2	EMX2	10	119302963	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168620	119302963	16231784	11071	13217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417968.3_RNA|RP11-354M20.3_ENST00000451610.2_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													145	577					0	0	1	0	0	A	119799769	G	A	119799769	4	1	22	1	0	0	0	0	0	1	0	0	12946	1095	38	1	893	1	RAB11FIP2	10	119799769	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	496806	119799769	15734978	11072	13218											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_004239.1	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													95	328					0	0	1	0	0	A	120353797	G	A	120353797	2	1	22	1	0	0	0	0	0	0	0	1	12582	1195	42	2		2	PRLHR	10	120353797	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	554028	120353797	15180950	11073	13219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000478852.1_Intron|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													62	241					0	0	1	0	0	A	120830529	G	A	120830529	3	1	22	1	0	0	0	0	1	0	0	0	5038	1319	46	2	3610	2	EIF3A	10	120830529	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	476732	120830529	14704218	11074	13220											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	264					1.30916e-28	1.52443e-28	1	1	0	A	121286924	C	A	121286924	3	1	22	1	0	0	0	0	1	0	0	0	13343	797	28	2	499	2	RGS10	10	121286924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	456395	121286924	14247823	11075	13221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436547.2_Missense_Mutation_p.A63T|TIAL1_ENST00000369092.4_5'UTR	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													119	515					0	0	1	0	0	T	121342012	C	T	121342012	3	4	22	1	0	0	0	0	1	0	0	0	15949	710	25	2	980	2	TIAL1	10	121342012	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55088	121342012	14192735	11076	13222											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	886					9.59835e-30	1.1228e-29	1	1	0	A	121429472	C	A	121429472	3	1	22	1	0	0	0	0	1	0	0	0	1286	681	24	2	296	2	BAG3	10	121429472	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87460	121429472	14105275	11077	13223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	336					0	0	1	0	0	A	121429651	G	A	121429651	3	1	22	1	0	0	0	0	1	0	0	0	1286	1203	42	2	475	2	BAG3	10	121429651	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	179	121429651	14105096	11078	13224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	354					0	0	1	0	0	T	121551041	C	T	121551041	3	4	22	1	0	0	0	0	1	0	0	0	7802	710	25	2	342	2	INPP5F	10	121551041	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121390	121551041	13983706	11079	13225											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	364					2.17888e-05	2.22852e-05	1	1	0	T	121551380	G	T	121551380	5	4	22	1	0	0	0	0	0	0	1	0	7802	1014	35	2	462	2	INPP5F	10	121551380	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	339	121551380	13983367	11080	13226											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	248					0	0	1	0	0	A	121663749	G	A	121663749	3	1	22	1	0	0	0	0	1	0	0	0	14047	1058	37	1	1075	1	SEC23IP	10	121663749	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112369	121663749	13870998	11081	13227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	338					0	0	1	0	0	A	121692654	G	A	121692654	3	1	22	1	0	0	0	0	1	0	0	0	14047	1087	38	1	2962	1	SEC23IP	10	121692654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28905	121692654	13842093	11082	13228	82	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	329					0	0	1	0	0	A	121692664	G	A	121692664	3	1	22	1	0	0	0	0	1	0	0	0	14047	1029	36	2	2972	2	SEC23IP	10	121692664	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10	121692664	13842083	11083	13229	82	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	374					1.68136e-41	2.04314e-41	1	1	0	A	122619695	C	A	122619695	3	1	22	1	0	0	0	0	1	0	0	0	17333	797	28	2	441	2	WDR11	10	122619695	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	927031	122619695	12915052	11084	13230											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	262					1.34159e-35	1.60235e-35	1	1	0	A	122626665	C	A	122626665	2	1	22	1	0	0	0	0	0	0	0	1	17333	668	24	2		2	WDR11	10	122626665	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6970	122626665	12908082	11085	13231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	286					0	0	1	0	0	T	122630757	C	T	122630757	3	4	22	1	0	0	0	0	1	0	0	0	17333	536	19	1	1408	1	WDR11	10	122630757	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4092	122630757	12903990	11086	13232											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	506					0	0	1	0	0	T	122650367	C	T	122650367	3	4	22	1	0	0	0	0	1	0	0	0	17333	768	27	1	2557	1	WDR11	10	122650367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19610	122650367	12884380	11087	13233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369056.1_Missense_Mutation_p.G584R|FGFR2_ENST00000356226.4_Missense_Mutation_p.G466R|FGFR2_ENST00000478859.1_Missense_Mutation_p.G355R|FGFR2_ENST00000360144.3_Missense_Mutation_p.G495R|FGFR2_ENST00000457416.2_Missense_Mutation_p.G584R|FGFR2_ENST00000369059.1_Missense_Mutation_p.G469R|FGFR2_ENST00000346997.2_Missense_Mutation_p.G581R|FGFR2_ENST00000351936.6_Missense_Mutation_p.G581R|FGFR2_ENST00000357555.5_Missense_Mutation_p.G494R|FGFR2_ENST00000369061.4_Missense_Mutation_p.G471R|FGFR2_ENST00000369060.4_Missense_Mutation_p.G467R	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				36	930					0	0	1	0	0	T	123256162	C	T	123256162	3	4	22	1	0	0	0	0	1	0	0	0	5899	652	23	1	846	1	FGFR2	10	123256162	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	605795	123256162	12278585	11088	13234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000224652.6_Missense_Mutation_p.G338D|ATE1_ENST00000543447.1_Missense_Mutation_p.G223D|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000369040.3_Missense_Mutation_p.G242D|ATE1_ENST00000540606.1_Missense_Mutation_p.G331D|ATE1_ENST00000535655.1_Missense_Mutation_p.G39D	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													18	91					0	0	1	0	0	T	123600741	C	T	123600741	3	4	22	1	0	0	0	0	1	0	0	0	1077	739	26	2	559	2	ATE1	10	123600741	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	344579	123600741	11934006	11089	13235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123661906C>A	ENST00000369043.3	-	6	899	c.813_splice	c.e6+1	p.E271_splice	ATE1_ENST00000224652.6_Splice_Site_p.E271_splice|ATE1_ENST00000543447.1_Splice_Site_p.E156_splice|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000369040.3_Splice_Site_p.E175_splice|ATE1_ENST00000540606.1_Splice_Site_p.E264_splice|ATE1_ENST00000535655.1_Intron	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													60	284					1.00798e-23	1.14783e-23	1	1	0	A	123661906	C	A	123661906	5	1	22	1	0	0	0	0	0	0	1	0	1077	695	24	2	904	2	ATE1	10	123661906	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61165	123661906	11872841	11090	13236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123724800C>T	ENST00000538652.1	-	5	914		c.e5+1		NSMCE4A_ENST00000369017.5_Splice_Site|NSMCE4A_ENST00000369023.3_Splice_Site|NSMCE4A_ENST00000489266.1_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													58	252					0	0	1	0	0	T	123724800	C	T	123724800	5	4	22	1	0	0	0	0	0	0	1	0	10725	521	18	2	427	2	NSMCE4A	10	123724800	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62894	123724800	11809947	11091	13237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515603.1_Missense_Mutation_p.A87V|TACC2_ENST00000515273.1_Missense_Mutation_p.A87V|TACC2_ENST00000453444.2_Missense_Mutation_p.A87V|TACC2_ENST00000358010.1_Intron	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													94	367					0	0	1	0	0	T	123842275	C	T	123842275	3	4	22	1	0	0	0	0	1	0	0	0	15559	739	26	2	270	2	TACC2	10	123842275	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117475	123842275	11692472	11092	13238											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515603.1_Missense_Mutation_p.A146D|TACC2_ENST00000515273.1_Missense_Mutation_p.A146D|TACC2_ENST00000453444.2_Missense_Mutation_p.A146D|TACC2_ENST00000358010.1_Intron	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													9	388					0.00448238	0.00451339	1	1	0	A	123842452	C	A	123842452	3	1	22	1	0	0	0	0	1	0	0	0	15559	739	26	2	447	2	TACC2	10	123842452	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177	123842452	11692295	11093	13239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515603.1_Silent_p.I194I|TACC2_ENST00000515273.1_Silent_p.I194I|TACC2_ENST00000453444.2_Silent_p.I194I|TACC2_ENST00000358010.1_Intron	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													17	171					0	0	1	0	0	T	123842597	C	T	123842597	2	4	22	1	0	0	0	0	0	0	0	1	15559	874	31	1		1	TACC2	10	123842597	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145	123842597	11692150	11094	13240											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515603.1_Missense_Mutation_p.A282T|TACC2_ENST00000515273.1_Missense_Mutation_p.A282T|TACC2_ENST00000453444.2_Missense_Mutation_p.A282T|TACC2_ENST00000358010.1_Intron	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													109	601					0	0	1	0	0	A	123842859	G	A	123842859	3	1	22	1	0	0	0	0	1	0	0	0	15559	971	34	2	854	2	TACC2	10	123842859	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262	123842859	11691888	11095	13241											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515603.1_Silent_p.K605K|TACC2_ENST00000515273.1_Silent_p.K605K|TACC2_ENST00000453444.2_Silent_p.K605K|TACC2_ENST00000358010.1_Intron	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													47	232					0	0	1	0	0	A	123843830	G	A	123843830	2	1	22	1	0	0	0	0	0	0	0	1	15559	962	34	2		2	TACC2	10	123843830	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	971	123843830	11690917	11096	13242											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515603.1_Silent_p.P1096P|TACC2_ENST00000515273.1_Silent_p.P1096P|TACC2_ENST00000453444.2_Silent_p.P1096P|TACC2_ENST00000358010.1_Intron	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													21	402					0	0	1	0	0	A	123845303	G	A	123845303	2	1	22	1	0	0	0	0	0	0	0	1	15559	1074	38	1		1	TACC2	10	123845303	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1473	123845303	11689444	11097	13243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000513429.1_Missense_Mutation_p.R834W|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000368999.1_Missense_Mutation_p.R778W|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000358010.1_Missense_Mutation_p.R834W|TACC2_ENST00000369004.3_Intron|TACC2_ENST00000260733.3_Missense_Mutation_p.R766W|TACC2_ENST00000360561.3_Intron	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													11	523					0	0	1	0	0	T	123989890	C	T	123989890	3	4	22	1	0	0	0	0	1	0	0	0	15559	759	27	1	8192	1	TACC2	10	123989890	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144587	123989890	11544857	11098	13244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	452					0	0	1	0	0	T	124034607	C	T	124034607	3	4	22	1	0	0	0	0	1	0	0	0	1543	893	31	1	13	1	BTBD16	10	124034607	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44717	124034607	11500140	11099	13245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000368990.3_Missense_Mutation_p.L32M|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.L32M|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.L32M|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.L32M			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													47	226					4.21674e-32	4.97474e-32	1	1	0	A	124152810	C	A	124152810	3	1	22	1	0	0	0	0	1	0	0	0	12103	564	20	2	96	2	PLEKHA1	10	124152810	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118203	124152810	11381937	11100	13246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	463					0	0	1	0	0	A	124268275	G	A	124268275	3	1	22	1	0	0	0	0	1	0	0	0	7497	1058	37	1	1131	1	HTRA1	10	124268275	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115465	124268275	11266472	11101	13247											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124333230G>T	ENST00000368909.3	+	6	341		c.e6-1		DMBT1_ENST00000344338.3_Splice_Site|DMBT1_ENST00000359586.6_Splice_Site|DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000338354.3_Splice_Site|DMBT1_ENST00000330163.4_Splice_Site|DMBT1_ENST00000368956.2_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													146	726					1.52797e-74	1.94704e-74	1	1	0	T	124333230	G	T	124333230	5	4	22	1	0	0	0	0	0	0	1	0	4605	1014	35	2	257	2	DMBT1	10	124333230	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64955	124333230	11201517	11102	13248											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344338.3_Missense_Mutation_p.S180N|DMBT1_ENST00000359586.6_Missense_Mutation_p.S180N|DMBT1_ENST00000368955.3_Missense_Mutation_p.S180N|DMBT1_ENST00000338354.3_Missense_Mutation_p.S180N|DMBT1_ENST00000330163.4_Missense_Mutation_p.S180N|DMBT1_ENST00000368956.2_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													47	529					0	0	1	0	0	A	124336170	G	A	124336170	3	1	22	1	0	0	0	0	1	0	0	0	4605	971	34	2	565	2	DMBT1	10	124336170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2940	124336170	11198577	11103	13249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344338.3_Missense_Mutation_p.A268S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.A268S|DMBT1_ENST00000338354.3_Missense_Mutation_p.A268S|DMBT1_ENST00000330163.4_Missense_Mutation_p.A268S|DMBT1_ENST00000368956.2_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													52	2046					3.5997e-14	3.90403e-14	1	1	0	T	124339216	G	T	124339216	3	4	22	1	0	0	0	0	1	0	0	0	4605	1319	46	2	840	2	DMBT1	10	124339216	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3046	124339216	11195531	11104	13250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344338.3_Missense_Mutation_p.N2050T|DMBT1_ENST00000359586.6_Missense_Mutation_p.N780T|DMBT1_ENST00000368955.3_Missense_Mutation_p.N2050T|DMBT1_ENST00000338354.3_Missense_Mutation_p.N2060T|DMBT1_ENST00000330163.4_Missense_Mutation_p.N1432T|DMBT1_ENST00000368956.2_Missense_Mutation_p.N1432T	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													57	220					0	0	1	0	0	C	124395524	A	C	124395524	3	2	22	1	0	0	0	0	1	0	0	0	4605	43	2	3	6377	3	DMBT1	10	124395524	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56308	124395524	11139223	11105	13251											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	181					0	0	1	0	0	A	124457595	T	A	124457595	3	1	22	1	0	0	0	0	1	0	0	0	1594	1435	50	5	349	5	C10orf120	10	124457595	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	62071	124457595	11077152	11106	13252											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	214					0	0	1	0	0	A	124457633	G	A	124457633	2	1	22	1	0	0	0	0	0	0	0	1	1594	1335	47	2		2	C10orf120	10	124457633	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38	124457633	11077114	11107	13253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	464					6.14176e-70	7.79703e-70	1	1	0	T	124591924	G	T	124591924	3	4	22	1	0	0	0	0	1	0	0	0	4089	1000	35	2	133	2	CUZD1	10	124591924	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134291	124591924	10942823	11108	13254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	231					0	0	1	0	0	T	124594412	C	T	124594412	3	4	22	1	0	0	0	0	1	0	0	0	4089	739	26	2	643	2	CUZD1	10	124594412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2488	124594412	10940335	11109	13255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	920					0	0	1	0	0	A	124671154	G	A	124671154	3	1	22	1	0	0	0	0	1	0	0	0	5580	1203	42	2	6	2	FAM24A	10	124671154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76742	124671154	10863593	11110	13256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	223					0	0	1	0	0	C	124691977	T	C	124691977	3	2	22	1	0	0	0	0	1	0	0	0	1626	1667	58	3	37	3	C10orf88	10	124691977	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20823	124691977	10842770	11111	13257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	184					0	0	1	0	0	A	124692104	G	A	124692104	3	1	22	1	0	0	0	0	1	0	0	0	1626	1029	36	2	164	2	C10orf88	10	124692104	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127	124692104	10842643	11112	13258											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368887.3_Missense_Mutation_p.G173S|PSTK_ENST00000497219.1_3'UTR			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													26	125					0	0	1	0	0	A	124742796	G	A	124742796	3	1	22	1	0	0	0	0	1	0	0	0	12769	1232	43	2	527	2	PSTK	10	124742796	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50692	124742796	10791951	11113	13259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Missense_Mutation_p.L114F	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													110	569					0	0	1	0	0	T	124800860	C	T	124800860	3	4	22	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	11114	13260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Missense_Mutation_p.D122G	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													40	587					0	0	1	0	0	G	124800885	A	G	124800885	3	3	22	1	0	0	0	0	1	0	0	0	115	275	10	3	689	3	ACADSB	10	124800885	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25	124800885	10733862	11115	13261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	348					0	0	1	0	0	G	124909094	A	G	124909094	3	3	22	1	0	0	0	0	1	0	0	0	7288	131	5	3	283	3	HMX2	10	124909094	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	108209	124909094	10625653	11116	13262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													130	604					0	0	1	0	0	C	124919965	A	C	124919965	3	2	22	1	0	0	0	0	1	0	0	0	1575	43	2	3	474	3	BUB3	10	124919965	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10871	124919965	10614782	11117	13263											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	58					0	0	1	0	0	A	125426094	G	A	125426094	2	1	22	1	0	0	0	0	0	0	0	1	6724	1335	47	2		2	GPR26	10	125426094	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	506129	125426094	10108653	11118	13264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	379					0	0	1	0	0	T	125447554	C	T	125447554	4	4	22	1	0	0	0	0	0	1	0	0	6724	760	27	1	902	1	GPR26	10	125447554	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21460	125447554	10087193	11119	13265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001270764.1|NM_015892.3	NP_001257693.1|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													47	174					0	0	1	0	0	T	125804220	C	T	125804220	2	4	22	1	0	0	0	0	0	0	0	1	3425	755	27	1		1	CHST15	10	125804220	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	356666	125804220	9730527	11120	13266	83	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001270764.1|NM_015892.3	NP_001257693.1|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													51	169					0	0	1	0	0	T	125804230	C	T	125804230	3	4	22	1	0	0	0	0	1	0	0	0	3425	768	27	1	957	1	CHST15	10	125804230	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10	125804230	9730517	11121	13267	83	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539214.1_Missense_Mutation_p.A76T|OAT_ENST00000467675.1_5'UTR	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													31	324					0	0	1	0	0	T	126094013	C	T	126094013	3	4	22	1	0	0	0	0	1	0	0	0	10851	768	27	1	703	1	OAT	10	126094013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	289783	126094013	9440734	11122	13268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	510					2.76158e-55	3.45054e-55	1	1	0	A	126100554	C	A	126100554	4	1	22	1	0	0	0	0	0	1	0	0	10851	864	30	2	1168	2	OAT	10	126100554	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6541	126100554	9434193	11123	13269											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-464O2.2_ENST00000448422.2_RNA|FAM53B_ENST00000392754.3_Missense_Mutation_p.L5I|FAM53B_ENST00000280780.6_Missense_Mutation_p.L5I|RP11-12J10.3_ENST00000494792.1_3'UTR|RP11-464O2.2_ENST00000432699.1_RNA	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													15	525					9.16793e-09	9.60025e-09	1	1	0	T	126395270	G	T	126395270	3	4	22	1	0	0	0	0	1	0	0	0	5616	991	35	2	1271	2	FAM53B	10	126395270	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294716	126395270	9139477	11124	13270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334808.6_Missense_Mutation_p.I385S|CTBP2_ENST00000411419.2_Missense_Mutation_p.I317S|CTBP2_ENST00000494626.2_Missense_Mutation_p.I317S|CTBP2_ENST00000337195.5_Missense_Mutation_p.I317S|CTBP2_ENST00000531469.1_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													17	128					0	0	1	0	0	C	126681860	A	C	126681860	3	2	22	1	0	0	0	0	1	0	0	0	4022	333	12	3	399	3	CTBP2	10	126681860	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	286590	126681860	8852887	11125	13271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334808.6_Missense_Mutation_p.D159G|CTBP2_ENST00000411419.2_Missense_Mutation_p.D91G|CTBP2_ENST00000494626.2_Missense_Mutation_p.D91G|CTBP2_ENST00000337195.5_Missense_Mutation_p.D91G|CTBP2_ENST00000531469.1_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													13	313					0	0	1	0	0	C	126691615	T	C	126691615	3	2	22	1	0	0	0	0	1	0	0	0	4022	1667	58	3	1093	3	CTBP2	10	126691615	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9755	126691615	8843132	11126	13272											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000531469.1_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													67	294					0	0	1	0	0	A	126715800	G	A	126715800	3	1	22	1	0	0	0	0	1	0	0	0	4022	1086	38	1	2464	1	CTBP2	10	126715800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24185	126715800	8818947	11127	13273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	33					0	0	1	0	0	A	127417664	G	A	127417664	2	1	22	1	0	0	0	0	0	0	0	1	1598	986	34	2		2	C10orf137	10	127417664	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	701864	127417664	8117083	11128	13274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	41					0	0	1	0	0	G	127421991	A	G	127421991	3	3	22	1	0	0	0	0	1	0	0	0	1598	275	10	3	1079	3	C10orf137	10	127421991	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4327	127421991	8112756	11129	13275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	303					0	0	1	0	0	T	127442353	C	T	127442353	3	4	22	1	0	0	0	0	1	0	0	0	1598	875	31	1	3472	1	C10orf137	10	127442353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20362	127442353	8092394	11130	13276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	249					0	0	1	0	0	G	127456127	A	G	127456127	2	3	22	1	0	0	0	0	0	0	0	1	9708	40	2	3		3	MMP21	10	127456127	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13774	127456127	8078620	11131	13277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	412					0	0	1	0	0	T	127459093	C	T	127459093	2	4	22	1	0	0	0	0	0	0	0	1	9708	680	24	2		2	MMP21	10	127459093	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2966	127459093	8075654	11132	13278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	267					0	0	1	0	0	T	127461256	C	T	127461256	3	4	22	1	0	0	0	0	1	0	0	0	9708	768	27	1	968	1	MMP21	10	127461256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2163	127461256	8073491	11133	13279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368774.1_Silent_p.Y56Y|UROS_ENST00000368786.1_Silent_p.Y56Y|UROS_ENST00000368797.4_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													30	169					0	0	1	0	0	A	127503679	G	A	127503679	2	1	22	1	0	0	0	0	0	0	0	1	17090	1140	40	1		1	UROS	10	127503679	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42423	127503679	8031068	11134	13280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429863.2_Missense_Mutation_p.D94Y|BCCIP_ENST00000478798.1_3'UTR|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													79	317					1.48072e-28	1.72364e-28	1	1	0	T	127516166	G	T	127516166	3	4	22	1	0	0	0	0	1	0	0	0	1354	942	33	2	290	2	BCCIP	10	127516166	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12487	127516166	8018581	11135	13281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368759.5_Intron|BCCIP_ENST00000299130.3_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													139	519					0	0	1	0	0	T	127529488	C	T	127529488	3	4	22	1	0	0	0	0	1	0	0	0	4533	893	31	1	626	1	DHX32	10	127529488	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13322	127529488	8005259	11136	13282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	414					0	0	1	0	0	A	127542554	G	A	127542554	2	1	22	1	0	0	0	0	0	0	0	1	4533	1048	37	1		1	DHX32	10	127542554	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13066	127542554	7992193	11137	13283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													164	646					2.95651e-86	3.79019e-86	1	1	0	A	127786984	C	A	127786984	5	1	22	1	0	0	0	0	0	0	1	0	235	521	18	2	1887	2	ADAM12	10	127786984	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244430	127786984	7747763	11138	13284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	418					0	0	1	0	0	A	127806713	G	A	127806713	3	1	22	1	0	0	0	0	1	0	0	0	235	1087	38	1	2403	1	ADAM12	10	127806713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19729	127806713	7728034	11139	13285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	74					0	0	1	0	0	T	128908593	C	T	128908593	2	4	22	1	0	0	0	0	0	0	0	1	4711	842	30	2		2	DOCK1	10	128908593	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1101880	128908593	6626154	11140	13286											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													224	960					0	0	1	0	0	C	128973575	A	C	128973575	3	2	22	1	0	0	0	0	1	0	0	0	5560	72	3	3	366	3	FAM196A	10	128973575	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	64982	128973575	6561172	11141	13287											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	143					0	0	1	0	0	A	129160443	G	A	129160443	2	1	22	1	0	0	0	0	0	0	0	1	4711	1020	36	2		2	DOCK1	10	129160443	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	186868	129160443	6374304	11142	13288											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	122					0	0	1	0	0	T	129202634	C	T	129202634	3	4	22	1	0	0	0	0	1	0	0	0	4711	739	26	2	4158	2	DOCK1	10	129202634	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42191	129202634	6332113	11143	13289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													187	818					0	0	1	0	0	C	129224193	T	C	129224193	3	2	22	1	0	0	0	0	1	0	0	0	4711	1580	55	3	4955	3	DOCK1	10	129224193	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21559	129224193	6310554	11144	13290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	384					0	0	1	0	0	T	129690991	A	T	129690991	3	4	22	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	11145	13291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000419012.2_Missense_Mutation_p.Q373R|PTPRE_ENST00000306042.5_Missense_Mutation_p.Q315R	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)	85	458					0	0	1	0	0	G	129868066	A	G	129868066	3	3	22	1	0	0	0	0	1	0	0	0	12852	188	7	3	1199	3	PTPRE	10	129868066	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	177075	129868066	5666681	11146	13292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	508					0	0	1	0	0	T	129901952	C	T	129901952	3	4	22	1	0	0	0	0	1	0	0	0	9646	797	28	2	1630	2	MKI67	10	129901952	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33886	129901952	5632795	11147	13293											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													184	693					0	0	1	0	0	A	129903573	G	A	129903573	2	1	22	1	0	0	0	0	0	0	0	1	9646	1310	46	2		2	MKI67	10	129903573	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1621	129903573	5631174	11148	13294											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													223	1155					0	0	1	0	0	G	129904345	A	G	129904345	3	3	22	1	0	0	0	0	1	0	0	0	9646	14	1	3	4023	3	MKI67	10	129904345	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	772	129904345	5630402	11149	13295											
MKI67	4288	broad.mit.edu	37	chr10	129905311	129905311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgattcctcagtgtgacctCgtgtctggaagagctcttta	10	9	3	3	rs78597473		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129905311C>T	ENST00000368654.3	-	13	5168	c.4793G>A	c.(4792-4794)cGa>cAa	p.R1598Q	MKI67_ENST00000368653.3_Missense_Mutation_p.R1238Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1598	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)				AGTGTGACCTCGTGTCTGGAA	0.483													217	881					0	0	1	0	0	T	129905311	C	T	129905311	3	4	22	1	0	0	0	0	1	0	0	0	9646	884	31	1	4989	1	MKI67	10	129905311	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	966	129905311	5629436	11150	13296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													279	1329					0	0	1	0	0	T	129905528	C	T	129905528	3	4	22	1	0	0	0	0	1	0	0	0	9646	768	27	1	5206	1	MKI67	10	129905528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217	129905528	5629219	11151	13297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													129	625					7.97229e-56	9.97061e-56	1	1	0	T	129906354	G	T	129906354	2	4	22	1	0	0	0	0	0	0	0	1	9646	987	35	2		2	MKI67	10	129906354	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	826	129906354	5628393	11152	13298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	1139					0	0	1	0	0	A	129906523	G	A	129906523	3	1	22	1	0	0	0	0	1	0	0	0	9646	1348	47	2	6201	2	MKI67	10	129906523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169	129906523	5628224	11153	13299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													527	1993					0	0	1	0	0	T	129907026	C	T	129907026	2	4	22	1	0	0	0	0	0	0	0	1	9646	680	24	2		2	MKI67	10	129907026	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	503	129907026	5627721	11154	13300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	581					0	0	1	0	0	A	129913211	G	A	129913211	2	1	22	1	0	0	0	0	0	0	0	1	9646	1368	48	2		2	MKI67	10	129913211	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6185	129913211	5621536	11155	13301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	304					0	0	1	0	0	A	129914033	G	A	129914033	2	1	22	1	0	0	0	0	0	0	0	1	9646	1194	42	2		2	MKI67	10	129914033	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	822	129914033	5620714	11156	13302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	860					0	0	1	0	0	T	131640509	C	T	131640509	3	4	22	1	0	0	0	0	1	0	0	0	4908	536	19	1	455	1	EBF3	10	131640509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1726476	131640509	3894238	11157	13303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	265					0	0	1	0	0	T	131666130	C	T	131666130	2	4	22	1	0	0	0	0	0	0	0	1	4908	639	23	1		1	EBF3	10	131666130	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25621	131666130	3868617	11158	13304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	313					0	0	1	0	0	T	131761748	C	T	131761748	2	4	22	1	0	0	0	0	0	0	0	1	4908	755	27	1		1	EBF3	10	131761748	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95618	131761748	3772999	11159	13305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	190					0	0	1	0	0	A	131973336	G	A	131973336	3	1	22	1	0	0	0	0	1	0	0	0	6503	1001	35	2	978	2	GLRX3	10	131973336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	211588	131973336	3561411	11160	13306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	231					0	0	1	0	0	G	132891434	T	G	132891434	3	3	22	1	0	0	0	0	1	0	0	0	15746	1838	64	3	12	3	TCERG1L	10	132891434	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	918098	132891434	2643313	11161	13307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	107					0	0	1	0	0	T	133058578	C	T	133058578	3	4	22	1	0	0	0	0	1	0	0	0	15746	768	27	1	996	1	TCERG1L	10	133058578	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167144	133058578	2476169	11162	13308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	208					0	0	1	0	0	T	133784250	C	T	133784250	3	4	22	1	0	0	0	0	1	0	0	0	1477	797	28	2	161	2	BNIP3	10	133784250	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	725672	133784250	1750497	11163	13309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	44					0	0	1	0	0	T	133955529	C	T	133955529	2	4	22	1	0	0	0	0	0	0	0	1	7986	796	28	2		2	JAKMIP3	10	133955529	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171279	133955529	1579218	11164	13310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	74					6.49762e-13	6.99513e-13	1	1	0	A	134010555	C	A	134010555	3	1	22	1	0	0	0	0	1	0	0	0	4775	680	24	2	593	2	DPYSL4	10	134010555	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55026	134010555	1524192	11165	13311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	205					0	0	1	0	0	T	134012464	C	T	134012464	3	4	22	1	0	0	0	0	1	0	0	0	4775	739	26	2	830	2	DPYSL4	10	134012464	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1909	134012464	1522283	11166	13312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344079.5_Silent_p.L155L|LRRC27_ENST00000432555.2_Silent_p.L28L|LRRC27_ENST00000368610.3_Silent_p.L93L|LRRC27_ENST00000392638.2_Silent_p.L155L|LRRC27_ENST00000368612.1_Silent_p.L93L|LRRC27_ENST00000368613.4_Silent_p.L155L|LRRC27_ENST00000368614.3_Silent_p.L155L			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													105	411					0	0	1	0	0	T	134158066	C	T	134158066	3	4	22	1	0	0	0	0	1	0	0	0	9026	871	31	1	479	1	LRRC27	10	134158066	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145602	134158066	1376681	11167	13313											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368610.3_Missense_Mutation_p.A231V|LRRC27_ENST00000368612.1_Missense_Mutation_p.A231V|LRRC27_ENST00000368613.4_Missense_Mutation_p.A293V|LRRC27_ENST00000368614.3_Missense_Mutation_p.A293V			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													119	511					0	0	1	0	0	T	134161812	C	T	134161812	3	4	22	1	0	0	0	0	1	0	0	0	9026	768	27	1	896	1	LRRC27	10	134161812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3746	134161812	1372935	11168	13314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475747.1_3'UTR|LRRC27_ENST00000392638.2_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													66	273					0	0	1	0	0	T	134188633	C	T	134188633	4	4	22	1	0	0	0	0	0	1	0	0	9026	876	31	1	1700	1	LRRC27	10	134188633	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26821	134188633	1346114	11169	13315											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475747.1_3'UTR|LRRC27_ENST00000392638.2_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													39	212					0	0	1	0	0	T	134188732	C	T	134188732	3	4	22	1	0	0	0	0	1	0	0	0	9026	884	31	1	1799	1	LRRC27	10	134188732	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99	134188732	1346015	11170	13316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	56					0	0	1	0	0	A	134218335	G	A	134218335	3	1	22	1	0	0	0	0	1	0	0	0	12898	1087	38	1	337	1	PWWP2B	10	134218335	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29603	134218335	1316412	11171	13317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	377					0	0	1	0	0	C	134219145	T	C	134219145	3	2	22	1	0	0	0	0	1	0	0	0	12898	1667	58	3	1147	3	PWWP2B	10	134219145	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	810	134219145	1315602	11172	13318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	287					0	0	1	0	0	T	134219225	C	T	134219225	2	4	22	1	0	0	0	0	0	0	0	1	12898	871	31	1		1	PWWP2B	10	134219225	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	134219225	1315522	11173	13319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	318					0	0	1	0	0	A	134563063	G	A	134563063	3	1	22	1	0	0	0	0	1	0	0	0	7798	1058	37	1	813	1	INPP5A	10	134563063	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	343838	134563063	971684	11174	13320											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	84					0	0	1	0	0	T	134591331	C	T	134591331	2	4	22	1	0	0	0	0	0	0	0	1	7798	783	27	1		1	INPP5A	10	134591331	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28268	134591331	943416	11175	13321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_796374.1	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													43	213					0	0	1	0	0	G	134598469	T	G	134598469	3	3	22	1	0	0	0	0	1	0	0	0	10505	1725	60	3	52	3	NKX6-2	10	134598469	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7138	134598469	936278	11176	13322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	74					0	0	1	0	0	T	134884441	C	T	134884441	2	4	22	1	0	0	0	0	0	0	0	1	6677	754	26	2		2	GPR123	10	134884441	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	285972	134884441	650306	11177	13323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	22					2.80697e-09	2.95087e-09	1	1	0	A	134893885	C	A	134893885	3	1	22	1	0	0	0	0	1	0	0	0	6677	812	28	2		2	GPR123	10	134893885	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9444	134893885	640862	11178	13324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	65					0	0	1	0	0	T	134942098	C	T	134942098	2	4	22	1	0	0	0	0	0	0	0	1	6677	796	28	2		2	GPR123	10	134942098	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48213	134942098	592649	11179	13325											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	181					0	0	1	0	0	T	134942239	C	T	134942239	3	4	22	1	0	0	0	0	1	0	0	0	6677	797	28	2	929	2	GPR123	10	134942239	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141	134942239	592508	11180	13326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													3	27					0	0	1	0	0	C	134942485	G	C	134942485	3	2	22	1	0	0	0	0	1	0	0	0	6677	1087	38	5	1175	5	GPR123	10	134942485	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	246	134942485	592262	11181	13327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	100					0	0	1	0	0	T	134942923	C	T	134942923	3	4	22	1	0	0	0	0	1	0	0	0	6677	739	26	2	1613	2	GPR123	10	134942923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	438	134942923	591824	11182	13328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368572.2_Missense_Mutation_p.A152V|KNDC1_ENST00000368571.2_Missense_Mutation_p.A87V			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													11	59					0	0	1	0	0	T	134996942	C	T	134996942	3	4	22	1	0	0	0	0	1	0	0	0	8469	768	27	1	469	1	KNDC1	10	134996942	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54019	134996942	537805	11183	13329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368572.2_Missense_Mutation_p.P377T|KNDC1_ENST00000368571.2_Missense_Mutation_p.P312T			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													40	147					1.03484e-13	1.11885e-13	1	1	0	A	134999981	C	A	134999981	3	1	22	1	0	0	0	0	1	0	0	0	8469	855	30	2	1151	2	KNDC1	10	134999981	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3039	134999981	534766	11184	13330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368572.2_Missense_Mutation_p.S1074Y|KNDC1_ENST00000368571.2_Missense_Mutation_p.S1007Y			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													34	119					1.61788e-16	1.7777e-16	1	1	0	A	135015230	C	A	135015230	3	1	22	1	0	0	0	0	1	0	0	0	8469	855	30	2	3281	2	KNDC1	10	135015230	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15249	135015230	519517	11185	13331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	153					0	0	1	0	0	A	135025297	G	A	135025297	3	1	22	1	0	0	0	0	1	0	0	0	8469	1059	37	1	4261	1	KNDC1	10	135025297	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10067	135025297	509450	11186	13332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135032456C>A	ENST00000304613.3	+	27	4820	c.4800_splice	c.e27+1	p.P1600_splice	KNDC1_ENST00000368572.2_Splice_Site_p.P1602_splice			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													109	471					2.19198e-39	2.65045e-39	1	1	0	A	135032456	C	A	135032456	5	1	22	1	0	0	0	0	0	0	1	0	8469	695	24	2	4905	2	KNDC1	10	135032456	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7159	135032456	502291	11187	13333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_014468.2	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													19	69					0	0	1	0	0	T	135051472	C	T	135051472	2	4	22	1	0	0	0	0	0	0	0	1	17213	784	28	2		2	VENTX	10	135051472	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19016	135051472	483275	11188	13334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_014468.2	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													16	54					3.45872e-05	3.53336e-05	1	1	0	A	135051528	C	A	135051528	3	1	22	1	0	0	0	0	1	0	0	0	17213	681	24	2	112	2	VENTX	10	135051528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56	135051528	483219	11189	13335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	39					0	0	1	0	0	T	135085191	C	T	135085191	3	4	22	1	0	0	0	0	1	0	0	0	251	478	17	2	1315	2	ADAM8	10	135085191	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33663	135085191	449556	11190	13336											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	195					0	0	1	0	0	T	135086319	C	T	135086319	3	4	22	1	0	0	0	0	1	0	0	0	251	507	18	2	1768	2	ADAM8	10	135086319	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1128	135086319	448428	11191	13337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368562.1_Silent_p.L364L|TUBGCP2_ENST00000252936.3_Silent_p.L771L|TUBGCP2_ENST00000417178.2_Silent_p.L641L|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													31	134					0	0	1	0	0	G	135095825	A	G	135095825	2	3	22	1	0	0	0	0	0	0	0	1	16828	98	4	3		3	TUBGCP2	10	135095825	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9506	135095825	438922	11192	13338											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135095846T>G	ENST00000368563.2	-	16	2646	c.2289_splice	c.e16-1	p.K764_splice	TUBGCP2_ENST00000368562.1_Splice_Site_p.K357_splice|TUBGCP2_ENST00000252936.3_Splice_Site_p.K764_splice|TUBGCP2_ENST00000417178.2_Splice_Site_p.K634_splice|TUBGCP2_ENST00000543663.1_Splice_Site_p.K792_splice	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													28	138					0	0	1	0	0	G	135095846	T	G	135095846	5	3	22	1	0	0	0	0	0	0	1	0	16828	1797	62	3	430	3	TUBGCP2	10	135095846	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21	135095846	438901	11193	13339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368562.1_Missense_Mutation_p.E6K|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.E413K|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.E283K|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													65	244					0	0	1	0	0	T	135103451	C	T	135103451	3	4	22	1	0	0	0	0	1	0	0	0	16828	893	31	1	1511	1	TUBGCP2	10	135103451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7605	135103451	431296	11194	13340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000252945.3_Missense_Mutation_p.D167N|CYP2E1_ENST00000480558.1_3'UTR|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				37	523					0	0	1	0	0	A	135345639	G	A	135345639	3	1	22	1	0	0	0	0	1	0	0	0	4193	1058	37	1	513	1	CYP2E1	10	135345639	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242188	135345639	189108	11195	13341											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	228					0	0	1	0	0	T	209565	C	T	209565	2	4	22	1	0	0	0	0	0	0	0	1	13405	477	17	2		2	RIC8A	11	209565	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08		209565	134796951	11196	13342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	257					0	0	1	0	0	T	290822	C	T	290822	2	4	22	1	0	0	0	0	0	0	0	1	1103	755	27	1		1	ATHL1	11	290822	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81257	290822	134715694	11197	13343											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	423					4.13886e-29	4.83036e-29	1	1	0	A	373496	C	A	373496	2	1	22	1	0	0	0	0	0	0	0	1	1267	610	22	2		2	B4GALNT4	11	373496	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82674	373496	134633020	11198	13344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	458					0	0	1	0	0	T	373509	C	T	373509	3	4	22	1	0	0	0	0	1	0	0	0	1267	739	26	2	723	2	B4GALNT4	11	373509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13	373509	134633007	11199	13345											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	100					2.27525e-19	2.53767e-19	1	1	0	T	375875	G	T	375875	3	4	22	1	0	0	0	0	1	0	0	0	1267	933	33	2	1056	2	B4GALNT4	11	375875	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2366	375875	134630641	11200	13346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	185					0	0	1	0	0	A	376150	G	A	376150	3	1	22	1	0	0	0	0	1	0	0	0	1267	1087	38	1	1218	1	B4GALNT4	11	376150	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275	376150	134630366	11201	13347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	40					0	0	1	0	0	T	377173	C	T	377173	3	4	22	1	0	0	0	0	1	0	0	0	1267	768	27	1	2104	1	B4GALNT4	11	377173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1023	377173	134629343	11202	13348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	51					0	0	1	0	0	G	377297	A	G	377297	3	3	22	1	0	0	0	0	1	0	0	0	1267	391	14	3	2228	3	B4GALNT4	11	377297	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	124	377297	134629219	11203	13349											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	132					0	0	1	0	0	A	380400	G	A	380400	3	1	22	1	0	0	0	0	1	0	0	0	1267	1145	40	1	2894	1	B4GALNT4	11	380400	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3103	380400	134626116	11204	13350	84	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	107					0	0	1	0	0	A	380410	G	A	380410	3	1	22	1	0	0	0	0	1	0	0	0	1267	1087	38	1	2904	1	B4GALNT4	11	380410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10	380410	134626106	11205	13351	84	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	129					0	0	1	0	0	A	396980	G	A	396980	3	1	22	1	0	0	0	0	1	0	0	0	12034	1000	35	2	489	2	PKP3	11	396980	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16570	396980	134609536	11206	13352											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	331					0	0	1	0	0	T	399008	C	T	399008	3	4	22	1	0	0	0	0	1	0	0	0	12034	739	26	2	1103	2	PKP3	11	399008	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2028	399008	134607508	11207	13353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000531205.1_Missense_Mutation_p.R483C|SIGIRR_ENST00000397632.3_Silent_p.D386D			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													20	88					0	0	1	0	0	A	405971	G	A	405971	3	1	22	1	0	0	0	0	1	0	0	0	14359	1136	40	1	78	1	SIGIRR	11	405971	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6963	405971	134600545	11208	13354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332725.3_Missense_Mutation_p.R178C|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000382520.2_Missense_Mutation_p.R178C|SIGIRR_ENST00000531205.1_Missense_Mutation_p.R178C|SIGIRR_ENST00000397632.3_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													10	67					0	0	1	0	0	A	407518	G	A	407518	3	1	22	1	0	0	0	0	1	0	0	0	14359	1116	39	1	720	1	SIGIRR	11	407518	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1547	407518	134598998	11209	13355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332725.3_Silent_p.Y165Y|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000382520.2_Silent_p.Y165Y|SIGIRR_ENST00000531205.1_Silent_p.Y165Y|SIGIRR_ENST00000397632.3_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													16	72					0	0	1	0	0	A	407555	G	A	407555	2	1	22	1	0	0	0	0	0	0	0	1	14359	1140	40	1		1	SIGIRR	11	407555	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	407555	134598961	11210	13356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001012302.2	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													144	635					0	0	1	0	0	C	418966	T	C	418966	3	2	22	1	0	0	0	0	1	0	0	0	698	1696	59	3	402	3	ANO9	11	418966	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11411	418966	134587550	11211	13357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001012302.2	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													24	100					0	0	1	0	0	A	420737	G	A	420737	2	1	22	1	0	0	0	0	0	0	0	1	698	1049	37	1		1	ANO9	11	420737	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1771	420737	134585779	11212	13358											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	237					0	0	1	0	0	T	488249	C	T	488249	2	4	22	1	0	0	0	0	0	0	0	1	12786	883	31	1		1	PTDSS2	11	488249	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67512	488249	134518267	11213	13359											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	45					0	0	1	0	0	T	489663	C	T	489663	2	4	22	1	0	0	0	0	0	0	0	1	12786	680	24	2		2	PTDSS2	11	489663	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1414	489663	134516853	11214	13360											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533410.1_Missense_Mutation_p.S399I|RNH1_ENST00000354420.2_Missense_Mutation_p.S399I|RNH1_ENST00000397615.2_Missense_Mutation_p.S399I|RNH1_ENST00000397604.3_Missense_Mutation_p.S399I|RNH1_ENST00000356187.5_Missense_Mutation_p.S399I|RNH1_ENST00000397614.1_Missense_Mutation_p.S399I|RNH1_ENST00000438658.2_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													7	76					0.248553	0.24873	1	1	0	A	494985	C	A	494985	3	1	22	1	0	0	0	0	1	0	0	0	13556	797	28	2	197	2	RNH1	11	494985	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5322	494985	134511531	11215	13361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451590.1_Missense_Mutation_p.A134T|HRAS_ENST00000397596.2_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)			102	520					0	0	1	0	0	T	533503	C	T	533503	3	4	22	1	0	0	0	0	1	0	0	0	7389	768	27	1	244	1	HRAS	11	533503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38518	533503	134473013	11216	13362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533464.1_Missense_Mutation_p.S97Y|PHRF1_ENST00000413872.2_Missense_Mutation_p.S100Y	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													87	253					6.85908e-49	8.47524e-49	1	1	0	A	587346	C	A	587346	3	1	22	1	0	0	0	0	1	0	0	0	11909	913	32	2	312	2	PHRF1	11	587346	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53843	587346	134419170	11217	13363											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	215					1.33834e-09	1.40959e-09	1	1	0	T	688045	G	T	688045	3	4	22	1	0	0	0	0	1	0	0	0	4403	1000	35	2	1203	2	DEAF1	11	688045	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100699	688045	134318471	11218	13364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|EPS8L2_ENST00000526198.1_Silent_p.K304K|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Silent_p.K288K			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													42	219					0	0	1	0	0	A	721660	G	A	721660	2	1	22	1	0	0	0	0	0	0	0	1	5224	991	35	2		2	EPS8L2	11	721660	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33615	721660	134284856	11219	13365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|EPS8L2_ENST00000526198.1_Missense_Mutation_p.S406P|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Missense_Mutation_p.S390P			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													37	198					0	0	1	0	0	C	722509	T	C	722509	3	2	22	1	0	0	0	0	1	0	0	0	5224	1667	58	3	1214	3	EPS8L2	11	722509	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	849	722509	134284007	11220	13366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|EPS8L2_ENST00000526198.1_Missense_Mutation_p.L562I|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Missense_Mutation_p.L546I			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													11	48					2.32078e-09	2.442e-09	1	1	0	A	725803	C	A	725803	3	1	22	1	0	0	0	0	1	0	0	0	5224	680	24	2	1698	2	EPS8L2	11	725803	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3294	725803	134280713	11221	13367											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	57					0	0	1	0	0	T	792041	C	T	792041	2	4	22	1	0	0	0	0	0	0	0	1	14540	639	23	1		1	SLC25A22	11	792041	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66238	792041	134214475	11222	13368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000532004.1_3'UTR|RPLP2_ENST00000530797.1_Missense_Mutation_p.A81S	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													7	176					1.26484e-09	1.33308e-09	1	1	0	T	812603	G	T	812603	3	4	22	1	0	0	0	0	1	0	0	0	13658	971	34	2	251	2	RPLP2	11	812603	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20562	812603	134193913	11223	13369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000322008.4_Missense_Mutation_p.A145T|CD151_ENST00000397421.1_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													66	259					0	0	1	0	0	A	837331	G	A	837331	3	1	22	1	0	0	0	0	1	0	0	0	2987	1087	38	1	447	1	CD151	11	837331	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24728	837331	134169185	11224	13370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397408.1_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397396.1_Nonsense_Mutation_p.C17*|TSPAN4_ENST00000397411.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000525201.1_Nonsense_Mutation_p.C17*|TSPAN4_ENST00000346501.4_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397406.1_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000409531.1_Nonsense_Mutation_p.C100*|TSPAN4_ENST00000409543.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397397.2_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													38	167					3.66082e-28	4.25431e-28	1	1	0	A	862729	C	A	862729	4	1	22	1	0	0	0	0	0	1	0	0	16710	747	26	2	249	2	TSPAN4	11	862729	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25398	862729	134143787	11225	13371											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332231.5_Missense_Mutation_p.F742L|AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000525891.1_3'UTR	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													78	333					0	0	1	0	0	G	1006544	T	G	1006544	3	3	22	1	0	0	0	0	1	0	0	0	736	1838	64	3	2289	3	AP2A2	11	1006544	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	143815	1006544	133999972	11226	13372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	167					0	0	1	0	0	A	1016172	G	A	1016172	3	1	22	1	0	0	0	0	1	0	0	0	10028	1203	42	2	702	2	MUC6	11	1016172	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9628	1016172	133990344	11227	13373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	2695					0	0	1	0	0	T	1016635	C	T	1016635	3	4	22	1	0	0	0	0	1	0	0	0	10028	681	24	2	1165	2	MUC6	11	1016635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	463	1016635	133989881	11228	13374											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	176					0	0	1	0	0	A	1025023	G	A	1025023	3	1	22	1	0	0	0	0	1	0	0	0	10028	1087	38	1	4313	1	MUC6	11	1025023	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8388	1025023	133981493	11229	13375											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	42					2.0095e-06	2.07161e-06	1	1	0	T	1028027	G	T	1028027	3	4	22	1	0	0	0	0	1	0	0	0	10028	962	34	2	5609	2	MUC6	11	1028027	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3004	1028027	133978489	11230	13376											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	97					0.0167234	0.0167961	1	1	0	A	1028689	C	A	1028689	3	1	22	1	0	0	0	0	1	0	0	0	10028	680	24	2	5855	2	MUC6	11	1028689	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	662	1028689	133977827	11231	13377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	143					2.68362e-12	2.87888e-12	1	1	0	A	1029525	C	A	1029525	3	1	22	1	0	0	0	0	1	0	0	0	10028	623	22	2	6313	2	MUC6	11	1029525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	836	1029525	133976991	11232	13378											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	62					0.00621372	0.0062537	1	1	0	T	1080508	G	T	1080508	3	4	22	1	0	0	0	0	1	0	0	0	10023	942	33	2	1184	2	MUC2	11	1080508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50983	1080508	133926008	11233	13379											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	94					0	0	1	0	0	T	1086426	C	T	1086426	2	4	22	1	0	0	0	0	0	0	0	1	10023	668	24	2		2	MUC2	11	1086426	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5918	1086426	133920090	11234	13380											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	125					0	0	1	0	0	G	1092185	A	G	1092185	3	3	22	1	0	0	0	0	1	0	0	0	10023	275	10	3	4122	3	MUC2	11	1092185	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5759	1092185	133914331	11235	13381											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	104					0	0	1	0	0	A	1102483	G	A	1102483	3	1	22	1	0	0	0	0	1	0	0	0	10023	1175	41	2	8037	2	MUC2	11	1102483	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10298	1102483	133904033	11236	13382											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	97					0	0	1	0	0	C	1104196	T	C	1104196	3	2	22	1	0	0	0	0	1	0	0	0	10023	1667	58	3	8573	3	MUC2	11	1104196	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1713	1104196	133902320	11237	13383											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	55					0	0	1	0	0	T	1251032	C	T	1251032	2	4	22	1	0	0	0	0	0	0	0	1	10027	796	28	2		2	MUC5B	11	1251032	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146836	1251032	133755484	11238	13384											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	97					0	0	1	0	0	A	1251768	G	A	1251768	3	1	22	1	0	0	0	0	1	0	0	0	10027	1116	39	1	1463	1	MUC5B	11	1251768	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	736	1251768	133754748	11239	13385											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	92					0	0	1	0	0	A	1252652	G	A	1252652	5	1	22	1	0	0	0	0	0	0	1	0	10027	985	34	2	1603	2	MUC5B	11	1252652	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	884	1252652	133753864	11240	13386											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	37					0	0	1	0	0	A	1254494	G	A	1254494	3	1	22	1	0	0	0	0	1	0	0	0	10027	1145	40	1	2396	1	MUC5B	11	1254494	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1842	1254494	133752022	11241	13387											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	53					0	0	1	0	0	A	1255461	G	A	1255461	3	1	22	1	0	0	0	0	1	0	0	0	10027	1174	41	2	2491	2	MUC5B	11	1255461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	967	1255461	133751055	11242	13388	85	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	54					3.35478e-16	3.68056e-16	1	1	0	T	1255465	G	T	1255465	3	4	22	1	0	0	0	0	1	0	0	0	10027	1319	46	2	2495	2	MUC5B	11	1255465	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4	1255465	133751051	11243	13389	85	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	57					0	0	1	0	0	A	1258188	G	A	1258188	3	1	22	1	0	0	0	0	1	0	0	0	10027	1058	37	1	3198	1	MUC5B	11	1258188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2723	1258188	133748328	11244	13390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	184					5.35267e-07	5.54261e-07	1	1	0	T	1262147	G	T	1262147	3	4	22	1	0	0	0	0	1	0	0	0	10027	1232	43	2	4168	2	MUC5B	11	1262147	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3959	1262147	133744369	11245	13391											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	MUC5B_ENST00000529681.1_Nonsense_Mutation_p.C1830*|RP11-532E4.2_ENST00000532061.2_RNA			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													58	250					2.69953e-25	3.09604e-25	1	1	0	A	1263600	C	A	1263600	4	1	22	1	0	0	0	0	0	1	0	0	10027	747	26	2	5621	2	MUC5B	11	1263600	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1453	1263600	133742916	11246	13392											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MUC5B_ENST00000529681.1_Silent_p.R2292R|RP11-532E4.2_ENST00000532061.2_RNA			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													86	1049					5.04879e-28	5.86081e-28	1	1	0	A	1264986	C	A	1264986	2	1	22	1	0	0	0	0	0	0	0	1	10027	697	25	2		2	MUC5B	11	1264986	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1386	1264986	133741530	11247	13393											
MUC5B	727897	broad.mit.edu	37	chr11	1265997	1265997	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccagggacggcacgcacGcttccagtgtggatcagcac	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1265997G>A	ENST00000447027.1	+	31	7954	c.7896G>A	c.(7894-7896)acG>acA	p.T2632T	MUC5B_ENST00000529681.1_Silent_p.T2629T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2629	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	p.T2608T(1)|p.T2629T(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)		CGGCACGCACGCTTCCAGTGT	0.637													90	374					0	0	1	0	0	A	1265997	G	A	1265997	2	1	22	1	0	0	0	0	0	0	0	1	10027	1074	38	1		1	MUC5B	11	1265997	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1011	1265997	133740519	11248	13394											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MUC5B_ENST00000529681.1_Missense_Mutation_p.S2689P|RP11-532E4.2_ENST00000532061.2_RNA			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													5	38					0	0	1	0	0	C	1266175	T	C	1266175	3	2	22	1	0	0	0	0	1	0	0	0	10027	1435	50	3	8196	3	MUC5B	11	1266175	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	178	1266175	133740341	11249	13395											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MUC5B_ENST00000529681.1_Silent_p.P3012P|RP11-532E4.2_ENST00000532061.2_RNA			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													175	726					0	0	1	0	0	A	1267146	G	A	1267146	2	1	22	1	0	0	0	0	0	0	0	1	10027	1132	40	1		1	MUC5B	11	1267146	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	971	1267146	133739370	11250	13396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MUC5B_ENST00000529681.1_Silent_p.T4237T|RP11-532E4.2_ENST00000532061.2_RNA			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													137	632					0	0	1	0	0	A	1270821	G	A	1270821	2	1	22	1	0	0	0	0	0	0	0	1	10027	1103	39	1		1	MUC5B	11	1270821	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3675	1270821	133735695	11251	13397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	439					0	0	1	0	0	T	1272392	C	T	1272392	3	4	22	1	0	0	0	0	1	0	0	0	10027	536	19	1	14413	1	MUC5B	11	1272392	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1571	1272392	133734124	11252	13398											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	147					0	0	1	0	0	T	1275968	C	T	1275968	2	4	22	1	0	0	0	0	0	0	0	1	10027	535	19	1		1	MUC5B	11	1275968	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3576	1275968	133730548	11253	13399											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	90					3.99206e-14	4.32713e-14	1	1	0	T	1279584	G	T	1279584	3	4	22	1	0	0	0	0	1	0	0	0	10027	1203	42	2	16759	2	MUC5B	11	1279584	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3616	1279584	133726932	11254	13400											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	467					0	0	1	0	0	A	1491566	G	A	1491566	3	1	22	1	0	0	0	0	1	0	0	0	9730	1000	35	2	167	2	MOB2	11	1491566	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	211982	1491566	133514950	11255	13401											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	243					0	0	1	0	0	A	1492597	G	A	1492597	4	1	22	1	0	0	0	0	0	1	0	0	9730	1386	48	2	396	2	MOB2	11	1492597	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1031	1492597	133513919	11256	13402											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_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													211	1011					0	0	1	0	0	A	1606276	G	A	1606276	2	1	22	1	0	0	0	0	0	0	0	1	8598	958	34	2		2	KRTAP5-1	11	1606276	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113679	1606276	133400240	11257	13403											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													303	1381					0	0	1	0	0	A	1629124	G	A	1629124	2	1	22	1	0	0	0	0	0	0	0	1	8602	963	34	2		2	KRTAP5-3	11	1629124	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22848	1629124	133377392	11258	13404											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	1162					0	0	1	0	0	T	1718508	C	T	1718508	2	4	22	1	0	0	0	0	0	0	0	1	8604	784	28	2		2	KRTAP5-6	11	1718508	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89384	1718508	133288008	11259	13405											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	1156					1.01459e-35	1.21254e-35	1	1	0	A	1718682	C	A	1718682	2	1	22	1	0	0	0	0	0	0	0	1	8604	784	28	2		2	KRTAP5-6	11	1718682	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174	1718682	133287834	11260	13406											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	143					0	0	1	0	0	T	1778668	C	T	1778668	3	4	22	1	0	0	0	0	1	0	0	0	4056	739	26	2	668	2	CTSD	11	1778668	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59986	1778668	133227848	11261	13407											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381968.3_Missense_Mutation_p.R13K|SYT8_ENST00000436964.2_5'UTR|SYT8_ENST00000341958.3_5'UTR			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													6	305					0	0	1	0	0	A	1856331	G	A	1856331	3	1	22	1	0	0	0	0	1	0	0	0	15537	942	33	2	44	2	SYT8	11	1856331	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77663	1856331	133150185	11262	13408											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381968.3_Missense_Mutation_p.A366T|SYT8_ENST00000535046.1_3'UTR			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													6	164					0	0	1	0	0	A	1858551	G	A	1858551	3	1	22	1	0	0	0	0	1	0	0	0	15537	1087	38	1	1130	1	SYT8	11	1858551	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2220	1858551	133147965	11263	13409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000252898.7_Missense_Mutation_p.A70T|TNNI2_ENST00000381905.3_Missense_Mutation_p.A70T|TNNI2_ENST00000381911.1_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													6	116					0	0	1	0	0	A	1862070	G	A	1862070	3	1	22	1	0	0	0	0	1	0	0	0	16387	1087	38	1	241	1	TNNI2	11	1862070	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3519	1862070	133144446	11264	13410											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000252898.7_Silent_p.I165I|TNNI2_ENST00000381905.3_Silent_p.I165I|TNNI2_ENST00000381911.1_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													65	289					0	0	1	0	0	T	1862727	C	T	1862727	2	4	22	1	0	0	0	0	0	0	0	1	16387	874	31	1		1	TNNI2	11	1862727	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	657	1862727	133143789	11265	13411											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405957.2_5'UTR|LSP1_ENST00000311604.3_Missense_Mutation_p.Q37H	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													43	187					2.26627e-22	2.56399e-22	1	1	0	T	1901374	G	T	1901374	3	4	22	1	0	0	0	0	1	0	0	0	9108	962	34	2	117	2	LSP1	11	1901374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38647	1901374	133105142	11266	13412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405957.2_Silent_p.Y63Y|LSP1_ENST00000311604.3_Silent_p.Y125Y|LSP1_ENST00000381775.1_Silent_p.Y253Y	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													61	324					0	0	1	0	0	T	1904667	C	T	1904667	2	4	22	1	0	0	0	0	0	0	0	1	9108	547	19	1		1	LSP1	11	1904667	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3293	1904667	133101849	11267	13413											
LSP1	4046	broad.mit.edu	37	chr11	1905554	1905557	+	Splice_Site	DEL	GTCT	GTCT	-													aaccgctccatagagaagagGtctgtctgtctgtctgtctg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1905554_1905557delGTCT	ENST00000406638.2	+	6	1751		c.e6+1		LSP1_ENST00000405957.2_Splice_Site|LSP1_ENST00000381775.1_Splice_Site|LSP1_ENST00000485341.1_Splice_Site|LSP1_ENST00000311604.3_Splice_Site	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1						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)		TAGAGAAGAGgtctgtctgtctgt	0.569													7	327	---	---	---	---						-	1905557	GTCT	-	1905554	8	5	22	1	0	1	0	1	0	0	1	0	9108	1275	44	0	658	0	LSP1	11	1905554	Splice_Site	DEL	GTCT	TCGA-IB-7651-01A-11D-2154-08	887	1905554	133100962	11268	13414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381548.3_Missense_Mutation_p.K144N|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000446240.1_Missense_Mutation_p.K123N|TNNT3_ENST00000381561.4_Missense_Mutation_p.K145N|TNNT3_ENST00000397301.1_Missense_Mutation_p.K153N|TNNT3_ENST00000397304.2_Missense_Mutation_p.K123N|TNNT3_ENST00000360603.3_Missense_Mutation_p.K136N|TNNT3_ENST00000278317.6_Missense_Mutation_p.K142N|TNNT3_ENST00000381579.3_Missense_Mutation_p.K134N|TNNT3_ENST00000381589.3_Missense_Mutation_p.K140N|TNNT3_ENST00000381549.3_Missense_Mutation_p.K134N			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													30	176					5.09552e-08	5.30909e-08	1	1	0	T	1955621	G	T	1955621	3	4	22	1	0	0	0	0	1	0	0	0	16392	933	33	2	509	2	TNNT3	11	1955621	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50067	1955621	133050895	11269	13415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397294.3_Missense_Mutation_p.K93N|MRPL23_ENST00000397298.3_Missense_Mutation_p.K93N|MRPL23_ENST00000397297.3_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)	8	129					0.307466	0.307576	1	1	0	T	1974067	G	T	1974067	3	4	22	1	0	0	0	0	1	0	0	0	9838	991	35	2	293	2	MRPL23	11	1974067	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18446	1974067	133032449	11270	13416											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000333684.5_Silent_p.S305S|TH_ENST00000381175.1_Silent_p.S422S|TH_ENST00000352909.3_Silent_p.S395S	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													27	145					4.59853e-10	4.86106e-10	1	1	0	T	2186913	G	T	2186913	2	4	22	1	0	0	0	0	0	0	0	1	15898	987	35	2		2	TH	11	2186913	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	212846	2186913	132819603	11271	13417											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000333684.5_Missense_Mutation_p.R153H|TH_ENST00000381175.1_Missense_Mutation_p.R176H|TH_ENST00000352909.3_Missense_Mutation_p.R149H	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													6	182					0	0	1	0	0	T	2189762	C	T	2189762	3	4	22	1	0	0	0	0	1	0	0	0	15898	768	27	1	1091	1	TH	11	2189762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2849	2189762	132816754	11272	13418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000333684.5_Silent_p.A122A|TH_ENST00000381175.1_Silent_p.A145A|TH_ENST00000352909.3_Silent_p.A118A	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													49	133					0	0	1	0	0	A	2189854	G	A	2189854	2	1	22	1	0	0	0	0	0	0	0	1	15898	1219	43	2		2	TH	11	2189854	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92	2189854	132816662	11273	13419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481687.1_Missense_Mutation_p.A76D|CD81_ENST00000492627.1_5'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.A108D|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000526072.1_5'UTR	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													10	324					3.86212e-05	3.93988e-05	1	1	0	A	2415352	C	A	2415352	3	1	22	1	0	0	0	0	1	0	0	0	3061	797	28	2	219	2	CD81	11	2415352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	225498	2415352	132591164	11274	13420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528453.1_Missense_Mutation_p.R868H|TRPM5_ENST00000533060.1_Missense_Mutation_p.R868H|TRPM5_ENST00000155858.6_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													74	374					0	0	1	0	0	T	2432869	C	T	2432869	3	4	22	1	0	0	0	0	1	0	0	0	16650	768	27	1	926	1	TRPM5	11	2432869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17517	2432869	132573647	11275	13421											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528453.1_Silent_p.P497P|TRPM5_ENST00000533060.1_Silent_p.P497P|TRPM5_ENST00000155858.6_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													18	150					0	0	1	0	0	T	2436266	C	T	2436266	2	4	22	1	0	0	0	0	0	0	0	1	16650	639	23	1		1	TRPM5	11	2436266	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3397	2436266	132570250	11276	13422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	385					0	0	1	0	0	A	2606516	G	A	2606516	2	1	22	1	0	0	0	0	0	0	0	1	8126	1103	39	1		1	KCNQ1	11	2606516	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	170250	2606516	132400000	11277	13423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000499962.1_RNA|CARS_ENST00000397111.5_Silent_p.L166L|CARS_ENST00000278224.9_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)	14	692					0	0	1	0	0	G	3059334	A	G	3059334	2	3	22	1	0	0	0	0	0	0	0	1	2675	117	5	3		3	CARS	11	3059334	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	452818	3059334	131947182	11278	13424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389989.3_Silent_p.T246T|OSBPL5_ENST00000525498.1_Silent_p.T225T|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Silent_p.T246T	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													219	933					0	0	1	0	0	A	3128610	G	A	3128610	2	1	22	1	0	0	0	0	0	0	0	1	11327	1103	39	1		1	OSBPL5	11	3128610	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69276	3128610	131877906	11279	13425											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	51					0	0	1	0	0	A	3249343	G	A	3249343	2	1	22	1	0	0	0	0	0	0	0	1	9813	1079	38	1		1	MRGPRE	11	3249343	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120733	3249343	131757173	11280	13426											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	490					0	0	1	0	0	A	3249838	G	A	3249838	2	1	22	1	0	0	0	0	0	0	0	1	9813	1136	40	1		1	MRGPRE	11	3249838	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	495	3249838	131756678	11281	13427											
ZNF195	0	broad.mit.edu	37	chr11	3380552	3380552	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttatgtttggtaatgtctgaGaaccacatgaagactctgcc	9	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3380552G>A	ENST00000354599.6	-	4	1574	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	ZNF195_ENST00000005082.9_Silent_p.F539F|ZNF195_ENST00000526601.1_Silent_p.F543F|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Silent_p.F494F|ZNF195_ENST00000429541.2_Silent_p.F494F|ZNF195_ENST00000399602.4_Silent_p.F562F	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	562					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)		TAATGTCTGAGAACCACATGA	0.393													98	404					0	0	1	0	0	A	3380552	G	A	3380552	2	1	22	1	0	0	0	0	0	0	0	1	17816	933	33	2		2	ZNF195	11	3380552	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	130714	3380552	131625964	11282	13428											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000005082.9_Silent_p.T509T|ZNF195_ENST00000526601.1_Silent_p.T513T|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Silent_p.T464T|ZNF195_ENST00000429541.2_Silent_p.T464T|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													57	641					0	0	1	0	0	A	3380642	G	A	3380642	2	1	22	1	0	0	0	0	0	0	0	1	17816	1219	43	2		2	ZNF195	11	3380642	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90	3380642	131625874	11283	13429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000005082.9_Missense_Mutation_p.Q350P|ZNF195_ENST00000526601.1_Missense_Mutation_p.Q354P|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Missense_Mutation_p.Q305P|ZNF195_ENST00000429541.2_Missense_Mutation_p.Q305P|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													148	642					0	0	1	0	0	G	3381120	T	G	3381120	3	3	22	1	0	0	0	0	1	0	0	0	17816	1580	55	3	775	3	ZNF195	11	3381120	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	478	3381120	131625396	11284	13430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000005082.9_Missense_Mutation_p.G227D|ZNF195_ENST00000526601.1_Missense_Mutation_p.G231D|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Missense_Mutation_p.G182D|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000429541.2_Missense_Mutation_p.G182D|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													54	246					0	0	1	0	0	T	3381489	C	T	3381489	3	4	22	1	0	0	0	0	1	0	0	0	17816	739	26	2	1144	2	ZNF195	11	3381489	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	369	3381489	131625027	11285	13431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	122					0	0	1	0	0	A	3688612	G	A	3688612	3	1	22	1	0	0	0	0	1	0	0	0	3404	971	34	2	615	2	CHRNA10	11	3688612	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	307123	3688612	131317904	11286	13432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	116					0	0	1	0	0	T	3688708	C	T	3688708	3	4	22	1	0	0	0	0	1	0	0	0	3404	652	23	1	711	1	CHRNA10	11	3688708	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96	3688708	131317808	11287	13433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359171.4_3'UTR|NUP98_ENST00000355260.3_Silent_p.D1708D	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								10	397					0	0	1	0	0	A	3697446	G	A	3697446	2	1	22	1	0	0	0	0	0	0	0	1	10821	1136	40	1		1	NUP98	11	3697446	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8738	3697446	131309070	11288	13434											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359171.4_Missense_Mutation_p.G249D|NUP98_ENST00000397004.4_Missense_Mutation_p.G249D|NUP98_ENST00000397007.4_Missense_Mutation_p.G249D|NUP98_ENST00000355260.3_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								38	245					0	0	1	0	0	T	3793016	C	T	3793016	3	4	22	1	0	0	0	0	1	0	0	0	10821	739	26	2	4836	2	NUP98	11	3793016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95570	3793016	131213500	11289	13435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359171.4_Silent_p.N106N|NUP98_ENST00000397004.4_Silent_p.N106N|NUP98_ENST00000397007.4_Silent_p.N106N|NUP98_ENST00000355260.3_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								57	460					0	0	1	0	0	A	3800140	G	A	3800140	2	1	22	1	0	0	0	0	0	0	0	1	10821	1368	48	2		2	NUP98	11	3800140	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7124	3800140	131206376	11290	13436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	365					0	0	1	0	0	A	4104554	G	A	4104554	3	1	22	1	0	0	0	0	1	0	0	0	15339	1059	37	1	1338	1	STIM1	11	4104554	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	304414	4104554	130901962	11291	13437											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	268					0	0	1	0	0	A	4128754	G	A	4128754	3	1	22	1	0	0	0	0	1	0	0	0	13733	1203	42	2	390	2	RRM1	11	4128754	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24200	4128754	130877762	11292	13438											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	365					3.4779e-39	4.20191e-39	1	1	0	T	4389036	G	T	4389036	3	4	22	1	0	0	0	0	1	0	0	0	11160	942	33	2	458	2	OR52B4	11	4389036	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	260282	4389036	130617480	11293	13439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													170	908					4.37143e-48	5.39033e-48	1	1	0	A	4608230	C	A	4608230	3	1	22	1	0	0	0	0	1	0	0	0	11169	739	26	2	190	2	OR52I2	11	4608230	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219194	4608230	130398286	11294	13440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	693					5.80444e-35	6.91851e-35	1	1	0	T	4608988	G	T	4608988	3	4	22	1	0	0	0	0	1	0	0	0	11169	971	34	2	948	2	OR52I2	11	4608988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	758	4608988	130397528	11295	13441											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													180	602					0	0	1	0	0	A	4615444	G	A	4615444	3	1	22	1	0	0	0	0	1	0	0	0	11168	1116	39	1	178	1	OR52I1	11	4615444	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6456	4615444	130391072	11296	13442											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	185					0	0	1	0	0	A	4615645	G	A	4615645	3	1	22	1	0	0	0	0	1	0	0	0	11168	1087	38	1	379	1	OR52I1	11	4615645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201	4615645	130390871	11297	13443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	831					0	0	1	0	0	T	4615834	C	T	4615834	3	4	22	1	0	0	0	0	1	0	0	0	11168	739	26	2	568	2	OR52I1	11	4615834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	189	4615834	130390682	11298	13444											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	454					0	0	1	0	0	A	4626372	G	A	4626372	2	1	22	1	0	0	0	0	0	0	0	1	16602	1194	42	2		2	TRIM68	11	4626372	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10538	4626372	130380144	11299	13445											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	326					1.48873e-21	1.67879e-21	1	1	0	A	4626710	C	A	4626710	3	1	22	1	0	0	0	0	1	0	0	0	16602	797	28	2	1456	2	TRIM68	11	4626710	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	338	4626710	130379806	11300	13446											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	465					3.44186e-60	4.32629e-60	1	1	0	T	4661117	G	T	4661117	3	4	22	1	0	0	0	0	1	0	0	0	11141	1232	43	2	99	2	OR51D1	11	4661117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34407	4661117	130345399	11301	13447											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	304					0	0	1	0	0	T	4661207	C	T	4661207	3	4	22	1	0	0	0	0	1	0	0	0	11141	884	31	1	189	1	OR51D1	11	4661207	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90	4661207	130345309	11302	13448											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	268					3.74213e-36	4.47626e-36	1	1	0	A	4674108	C	A	4674108	3	1	22	1	0	0	0	0	1	0	0	0	11142	796	28	2	354	2	OR51E1	11	4674108	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12901	4674108	130332408	11303	13449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	254					0	0	1	0	0	G	4703289	A	G	4703289	3	3	22	1	0	0	0	0	1	0	0	0	11143	14	1	3	313	3	OR51E2	11	4703289	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29181	4703289	130303227	11304	13450											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.T311A			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													63	256					0	0	1	0	0	C	4790217	T	C	4790217	3	2	22	1	0	0	0	0	1	0	0	0	11144	1638	57	3	10	3	OR51F1	11	4790217	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	86928	4790217	130216299	11305	13451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A186T			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													95	382					0	0	1	0	0	T	4825055	C	T	4825055	3	4	22	1	0	0	0	0	1	0	0	0	11179	739	26	2	394	2	OR52R1	11	4825055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34838	4825055	130181461	11306	13452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.I128I	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													89	434					0	0	1	0	0	T	4903513	C	T	4903513	2	4	22	1	0	0	0	0	0	0	0	1	11154	903	32	2		2	OR51T1	11	4903513	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78458	4903513	130103003	11307	13453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.F218L	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													56	284					1.46357e-32	1.7291e-32	1	1	0	A	4903783	C	A	4903783	3	1	22	1	0	0	0	0	1	0	0	0	11154	912	32	2	737	2	OR51T1	11	4903783	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	270	4903783	130102733	11308	13454											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_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													124	624					7.11685e-60	8.9425e-60	1	1	0	T	4929297	G	T	4929297	3	4	22	1	0	0	0	0	1	0	0	0	11136	1000	35	2	700	2	OR51A7	11	4929297	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25514	4929297	130077219	11309	13455											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	98	490					7.036e-43	8.57727e-43	1	1	0	A	5009471	C	A	5009471	2	1	22	1	0	0	0	0	0	0	0	1	9712	903	32	2		2	MMP26	11	5009471	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80174	5009471	129997045	11310	13456											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	159					0	0	1	0	0	T	5011082	C	T	5011082	3	4	22	1	0	0	0	0	1	0	0	0	9712	710	25	2	310	2	MMP26	11	5011082	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1611	5011082	129995434	11311	13457											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	208					4.0492e-12	4.34013e-12	1	1	0	T	5013249	G	T	5013249	3	4	22	1	0	0	0	0	1	0	0	0	9712	962	34	2	669	2	MMP26	11	5013249	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2167	5013249	129993267	11312	13458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	279					0	0	1	0	0	T	5013323	C	T	5013323	3	4	22	1	0	0	0	0	1	0	0	0	9712	739	26	2	743	2	MMP26	11	5013323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74	5013323	129993193	11313	13459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	245					2.60599e-31	3.06669e-31	1	1	0	T	5079958	G	T	5079958	2	4	22	1	0	0	0	0	0	0	0	1	11163	932	33	2		2	OR52E2	11	5079958	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66635	5079958	129926558	11314	13460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	295					0	0	1	0	0	A	5153029	G	A	5153029	3	1	22	1	0	0	0	0	1	0	0	0	11158	942	33	2	109	2	OR52A5	11	5153029	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73071	5153029	129853487	11315	13461											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	167					0	0	1	0	0	T	5173380	C	T	5173380	3	4	22	1	0	0	0	0	1	0	0	0	11156	710	25	2	720	2	OR52A1	11	5173380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20351	5173380	129833136	11316	13462											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	337					0	0	1	0	0	C	5221325	T	C	5221325	2	2	22	1	0	0	0	0	0	0	0	1	11155	1422	50	3		3	OR51V1	11	5221325	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47945	5221325	129785191	11317	13463											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	201					0	0	1	0	0	T	5221587	C	T	5221587	3	4	22	1	0	0	0	0	1	0	0	0	11155	507	18	2	624	2	OR51V1	11	5221587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262	5221587	129784929	11318	13464											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	332					8.2577e-42	1.00413e-41	1	1	0	T	5221811	G	T	5221811	3	4	22	1	0	0	0	0	1	0	0	0	11155	933	33	2	848	2	OR51V1	11	5221811	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	224	5221811	129784705	11319	13465											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5248009C>T	ENST00000335295.3	-	2	288	c.113G>A	c.(112-114)tGg>tAg	p.W38*		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	38			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				69	307					0	0	1	0	0	T	5248009	C	T	5248009	4	4	22	1	0	0	0	0	0	1	0	0	7019	595	21	2	338	2	HBB	11	5248009	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26198	5248009	129758507	11320	13466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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	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													57	328					0	0	1	0	0	C	5322876	T	C	5322876	3	2	22	1	0	0	0	0	1	0	0	0	11138	1464	51	3	634	3	OR51B4	11	5322876	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	74867	5322876	129683640	11321	13467											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	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													62	244					0	0	1	0	0	G	5364599	A	G	5364599	2	3	22	1	0	0	0	0	0	0	0	1	11139	330	12	3		3	OR51B5	11	5364599	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41723	5364599	129641917	11322	13468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	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													75	320					0	0	1	0	0	C	5411272	T	C	5411272	3	2	22	1	0	0	0	0	1	0	0	0	11151	1638	57	3	646	3	OR51M1	11	5411272	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46673	5411272	129595244	11323	13469											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	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													33	143					0	0	1	0	0	T	5411487	C	T	5411487	3	4	22	1	0	0	0	0	1	0	0	0	11151	913	32	2	861	2	OR51M1	11	5411487	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	215	5411487	129595029	11324	13470											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	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													30	836					0	0	1	0	0	T	5443517	C	T	5443517	2	4	22	1	0	0	0	0	0	0	0	1	11152	903	32	2		2	OR51Q1	11	5443517	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32030	5443517	129562999	11325	13471											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	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													21	400					0	0	1	0	0	C	5444251	T	C	5444251	3	2	22	1	0	0	0	0	1	0	0	0	11152	1667	58	3	823	3	OR51Q1	11	5444251	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	734	5444251	129562265	11326	13472											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	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													110	504					0	0	1	0	0	T	5475109	C	T	5475109	3	4	22	1	0	0	0	0	1	0	0	0	11149	768	27	1	393	1	OR51I2	11	5475109	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30858	5475109	129531407	11327	13473											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	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													157	624					0	0	1	0	0	A	5475516	G	A	5475516	2	1	22	1	0	0	0	0	0	0	0	1	11149	962	34	2		2	OR51I2	11	5475516	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	407	5475516	129531000	11328	13474											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	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													86	274					0	0	1	0	0	G	5510879	A	G	5510879	3	3	22	1	0	0	0	0	1	0	0	0	11162	247	9	3	945	3	OR52D1	11	5510879	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35363	5510879	129495637	11329	13475											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	464					0	0	1	0	0	T	5529987	C	T	5529987	3	4	22	1	0	0	0	0	1	0	0	0	16959	768	27	1	1169	1	UBQLN3	11	5529987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19108	5529987	129476529	11330	13476											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	409					0	0	1	0	0	T	5530082	C	T	5530082	3	4	22	1	0	0	0	0	1	0	0	0	16959	797	28	2	1264	2	UBQLN3	11	5530082	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95	5530082	129476434	11331	13477											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	355					0	0	1	0	0	T	5530259	A	T	5530259	3	4	22	1	0	0	0	0	1	0	0	0	16959	333	12	5	1441	5	UBQLN3	11	5530259	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	177	5530259	129476257	11332	13478											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	188					3.11337e-16	3.41587e-16	1	1	0	A	5530451	C	A	5530451	3	1	22	1	0	0	0	0	1	0	0	0	16959	565	20	2	1633	2	UBQLN3	11	5530451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192	5530451	129476065	11333	13479											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	253					0	0	1	0	0	G	5536814	T	G	5536814	3	3	22	1	0	0	0	0	1	0	0	0	16961	1606	56	3	573	3	UBQLNL	11	5536814	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6363	5536814	129469702	11334	13480											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													145	639					0	0	1	0	0	T	5537044	C	T	5537044	3	4	22	1	0	0	0	0	1	0	0	0	16961	922	32	2	803	2	UBQLNL	11	5537044	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	230	5537044	129469472	11335	13481											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	595					0	0	1	0	0	T	5537124	C	T	5537124	3	4	22	1	0	0	0	0	1	0	0	0	16961	652	23	1	883	1	UBQLNL	11	5537124	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	5537124	129469392	11336	13482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	247					0	0	1	0	0	T	5566168	C	T	5566168	3	4	22	1	0	0	0	0	1	0	0	0	11167	768	27	1	379	1	OR52H1	11	5566168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29044	5566168	129440348	11337	13483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	259					0	0	1	0	0	T	5602224	C	T	5602224	2	4	22	1	0	0	0	0	0	0	0	1	11161	796	28	2		2	OR52B6	11	5602224	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36056	5602224	129404292	11338	13484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	440					0	0	1	0	0	A	5602323	G	A	5602323	3	1	22	1	0	0	0	0	1	0	0	0	11161	1203	42	2	219	2	OR52B6	11	5602323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99	5602323	129404193	11339	13485											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TRIM6-TRIM34_ENST00000354852.5_Silent_p.S257S|TRIM6_ENST00000278302.5_Silent_p.S229S|TRIM6_ENST00000506134.1_Silent_p.S54S|TRIM6_ENST00000445329.1_Silent_p.S54S|TRIM6_ENST00000507320.1_Silent_p.S54S|TRIM6_ENST00000380107.1_Silent_p.S203S|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000515022.1_Silent_p.S54S|HBG2_ENST00000380259.2_Intron	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	50	210					0	0	1	0	0	A	5626734	G	A	5626734	2	1	22	1	0	0	0	0	0	0	0	1	16594	1074	38	1		1	TRIM6	11	5626734	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24411	5626734	129379782	11340	13486											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000483835.1_5'UTR|TRIM5_ENST00000396847.3_Missense_Mutation_p.E258D|TRIM5_ENST00000396855.3_Missense_Mutation_p.E258D|TRIM5_ENST00000396853.4_Missense_Mutation_p.E259D|TRIM5_ENST00000380034.3_Missense_Mutation_p.E258D|TRIM5_ENST00000380027.1_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													61	248					5.19286e-32	6.12576e-32	1	1	0	A	5687305	C	A	5687305	3	1	22	1	0	0	0	0	1	0	0	0	16586	912	32	2	958	2	TRIM5	11	5687305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60571	5687305	129319211	11341	13487											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000483835.1_5'UTR|TRIM5_ENST00000396847.3_Silent_p.T215T|TRIM5_ENST00000396855.3_Silent_p.T215T|TRIM5_ENST00000396853.4_Silent_p.T215T|TRIM5_ENST00000380034.3_Silent_p.T215T|TRIM5_ENST00000380027.1_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													32	315					0	0	1	0	0	T	5699533	C	T	5699533	2	4	22	1	0	0	0	0	0	0	0	1	16586	871	31	1		1	TRIM5	11	5699533	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12228	5699533	129306983	11342	13488											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	647					0	0	1	0	0	T	5730696	C	T	5730696	3	4	22	1	0	0	0	0	1	0	0	0	16557	739	26	2	1341	2	TRIM22	11	5730696	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31163	5730696	129275820	11343	13489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	501					3.08376e-08	3.21767e-08	1	1	0	A	5776325	C	A	5776325	3	1	22	1	0	0	0	0	1	0	0	0	11177	797	28	2	357	2	OR52N4	11	5776325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45629	5776325	129230191	11344	13490											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	313					0	0	1	0	0	G	5799527	A	G	5799527	3	3	22	1	0	0	0	0	1	0	0	0	11178	43	2	3	640	3	OR52N5	11	5799527	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23202	5799527	129206989	11345	13491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	618					0	0	1	0	0	C	5799696	T	C	5799696	3	2	22	1	0	0	0	0	1	0	0	0	11178	1464	51	3	809	3	OR52N5	11	5799696	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	169	5799696	129206820	11346	13492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	368					0	0	1	0	0	C	5799846	A	C	5799846	3	2	22	1	0	0	0	0	1	0	0	0	11178	98	4	3	959	3	OR52N5	11	5799846	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	150	5799846	129206670	11347	13493											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	466					0	0	1	0	0	A	5842359	G	A	5842359	3	1	22	1	0	0	0	0	1	0	0	0	11176	1145	40	1	796	1	OR52N2	11	5842359	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42513	5842359	129164157	11348	13494											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	286					0	0	1	0	0	C	5878211	T	C	5878211	3	2	22	1	0	0	0	0	1	0	0	0	11166	1841	64	3	233	3	OR52E8	11	5878211	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35852	5878211	129128305	11349	13495											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	924					0	0	1	0	0	T	5906196	C	T	5906196	3	4	22	1	0	0	0	0	1	0	0	0	11164	797	28	2	676	2	OR52E4	11	5906196	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27985	5906196	129100320	11350	13496											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	247					0	0	1	0	0	T	6007343	C	T	6007343	3	4	22	1	0	0	0	0	1	0	0	0	11173	855	30	2	175	2	OR52L1	11	6007343	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101147	6007343	128999173	11351	13497											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000524416.1_Silent_p.G628G|FAM160A2_ENST00000449352.2_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													40	147					0	0	1	0	0	G	6238932	A	G	6238932	2	3	22	1	0	0	0	0	0	0	0	1	5499	262	10	3		3	FAM160A2	11	6238932	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	231589	6238932	128767584	11352	13498											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000524416.1_Nonsense_Mutation_p.E472*|FAM160A2_ENST00000449352.2_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													161	678					1.34565e-61	1.69474e-61	1	1	0	A	6239851	C	A	6239851	4	1	22	1	0	0	0	0	0	1	0	0	5499	922	32	2	1566	2	FAM160A2	11	6239851	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	919	6239851	128766665	11353	13499											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000524416.1_Silent_p.R274R|FAM160A2_ENST00000449352.2_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													201	687					0	0	1	0	0	C	6244424	T	C	6244424	2	2	22	1	0	0	0	0	0	0	0	1	5499	1770	62	3		3	FAM160A2	11	6244424	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4573	6244424	128762092	11354	13500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000524416.1_Missense_Mutation_p.T73I|FAM160A2_ENST00000449352.2_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													59	246					0	0	1	0	0	A	6245399	G	A	6245399	3	1	22	1	0	0	0	0	1	0	0	0	5499	1029	36	2	2782	2	FAM160A2	11	6245399	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	975	6245399	128761117	11355	13501											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													144	650					0	0	1	0	0	T	6261612	C	T	6261612	2	4	22	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	11356	13502											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	267					1.22119e-34	1.45331e-34	1	1	0	T	6291375	G	T	6291375	3	4	22	1	0	0	0	0	1	0	0	0	2901	971	34	2	471	2	CCKBR	11	6291375	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29763	6291375	128715141	11357	13503											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	755					0	0	1	0	0	A	6291537	G	A	6291537	3	1	22	1	0	0	0	0	1	0	0	0	2901	1087	38	1	633	1	CCKBR	11	6291537	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	162	6291537	128714979	11358	13504											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	623					0	0	1	0	0	A	6292613	G	A	6292613	3	1	22	1	0	0	0	0	1	0	0	0	2901	1145	40	1	1202	1	CCKBR	11	6292613	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1076	6292613	128713903	11359	13505											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	225					0	0	1	0	0	C	6340679	T	C	6340679	3	2	22	1	0	0	0	0	1	0	0	0	12562	1667	58	3	289	3	PRKCDBP	11	6340679	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	48066	6340679	128665837	11360	13506											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000299402.6_Missense_Mutation_p.A490T|APBB1_ENST00000533407.1_Missense_Mutation_p.A231T|APBB1_ENST00000311051.3_Missense_Mutation_p.A490T|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000530885.1_Missense_Mutation_p.A270T	NM_001257325.1	NP_001244254.1	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													43	266					0	0	1	0	0	T	6422833	C	T	6422833	3	4	22	1	0	0	0	0	1	0	0	0	755	768	27	1	682	1	APBB1	11	6422833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82154	6422833	128583683	11361	13507											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000299402.6_Silent_p.A83A|APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_Silent_p.A83A	NM_001257325.1	NP_001244254.1	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													62	1474					0	0	1	0	0	A	6432329	G	A	6432329	2	1	22	1	0	0	0	0	0	0	0	1	755	1219	43	2		2	APBB1	11	6432329	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9496	6432329	128574187	11362	13508											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536344.1_Silent_p.V406V|TRIM3_ENST00000359518.3_Silent_p.V525V|TRIM3_ENST00000345851.3_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													11	455					0	0	1	0	0	A	6472627	G	A	6472627	2	1	22	1	0	0	0	0	0	0	0	1	16565	1161	41	2		2	TRIM3	11	6472627	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40298	6472627	128533889	11363	13509											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6477406C>T	ENST00000525074.1	-	7	1824		c.e7-1		TRIM3_ENST00000536344.1_Splice_Site|TRIM3_ENST00000359518.3_Splice_Site|TRIM3_ENST00000529058.1_Splice_Site|TRIM3_ENST00000345851.3_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													62	324					0	0	1	0	0	T	6477406	C	T	6477406	5	4	22	1	0	0	0	0	0	0	1	0	16565	695	24	2	829	2	TRIM3	11	6477406	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4779	6477406	128529110	11364	13510											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536344.1_Silent_p.R291R|TRIM3_ENST00000359518.3_Silent_p.R410R|TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000345851.3_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													42	132					0	0	1	0	0	A	6477726	G	A	6477726	2	1	22	1	0	0	0	0	0	0	0	1	16565	1074	38	1		1	TRIM3	11	6477726	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	320	6477726	128528790	11365	13511											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536344.1_Nonsense_Mutation_p.R188*|TRIM3_ENST00000359518.3_Nonsense_Mutation_p.R307*|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000345851.3_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													11	596					0	0	1	0	0	A	6478037	G	A	6478037	4	1	22	1	0	0	0	0	0	1	0	0	16565	1095	38	1	1343	1	TRIM3	11	6478037	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	311	6478037	128528479	11366	13512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536344.1_Missense_Mutation_p.R74C|TRIM3_ENST00000359518.3_Missense_Mutation_p.R193C|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000345851.3_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													8	411					0	0	1	0	0	A	6478645	G	A	6478645	3	1	22	1	0	0	0	0	1	0	0	0	16565	1087	38	1	1689	1	TRIM3	11	6478645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	608	6478645	128527871	11367	13513											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6479076G>A	ENST00000525074.1	-	4	759	c.363_splice	c.e4-1	p.T122_splice	TRIM3_ENST00000536344.1_Splice_Site_p.T3_splice|TRIM3_ENST00000359518.3_Splice_Site_p.T122_splice|TRIM3_ENST00000345851.3_Splice_Site_p.T122_splice|TRIM3_ENST00000537602.1_Splice_Site_p.T122_splice	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													97	438					0	0	1	0	0	A	6479076	G	A	6479076	5	1	22	1	0	0	0	0	0	0	1	0	16565	1159	40	1	1905	1	TRIM3	11	6479076	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	431	6479076	128527440	11368	13514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536344.1_5'UTR|TRIM3_ENST00000359518.3_Silent_p.A96A|TRIM3_ENST00000345851.3_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													72	364					0	0	1	0	0	A	6479370	G	A	6479370	2	1	22	1	0	0	0	0	0	0	0	1	16565	1219	43	2		2	TRIM3	11	6479370	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294	6479370	128527146	11369	13515											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000445086.2_Intron|ARFIP2_ENST00000396777.3_Missense_Mutation_p.V96A|ARFIP2_ENST00000525235.1_Missense_Mutation_p.V96A|ARFIP2_ENST00000423813.2_Missense_Mutation_p.V58A	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													53	292					0	0	1	0	0	G	6500398	A	G	6500398	3	3	22	1	0	0	0	0	1	0	0	0	852	275	10	3	758	3	ARFIP2	11	6500398	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21028	6500398	128506118	11370	13516											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354685.3_Missense_Mutation_p.Q251P|DNHD1_ENST00000527990.2_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													38	180					0	0	1	0	0	C	6523988	A	C	6523988	3	2	22	1	0	0	0	0	1	0	0	0	4695	188	7	3	758	3	DNHD1	11	6523988	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23590	6523988	128482528	11371	13517											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354685.3_Missense_Mutation_p.V572A|DNHD1_ENST00000527990.2_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													117	555					0	0	1	0	0	C	6541262	T	C	6541262	3	2	22	1	0	0	0	0	1	0	0	0	4695	1696	59	3	1741	3	DNHD1	11	6541262	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17274	6541262	128465254	11372	13518											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	78					0	0	1	0	0	G	6587919	A	G	6587919	3	3	22	1	0	0	0	0	1	0	0	0	4695	449	16	3	11448	3	DNHD1	11	6587919	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	46657	6587919	128418597	11373	13519											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	353					0	0	1	0	0	A	6588955	G	A	6588955	2	1	22	1	0	0	0	0	0	0	0	1	4695	1132	40	1		1	DNHD1	11	6588955	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1036	6588955	128417561	11374	13520											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	273					0	0	1	0	0	A	6592149	G	A	6592149	2	1	22	1	0	0	0	0	0	0	0	1	4695	1132	40	1		1	DNHD1	11	6592149	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3194	6592149	128414367	11375	13521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	154					0	0	1	0	0	T	6621780	C	T	6621780	3	4	22	1	0	0	0	0	1	0	0	0	13742	768	27	1	191	1	RRP8	11	6621780	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29631	6621780	128384736	11376	13522											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	148					0	0	1	0	0	T	6622562	C	T	6622562	3	4	22	1	0	0	0	0	1	0	0	0	13742	652	23	1	656	1	RRP8	11	6622562	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	782	6622562	128383954	11377	13523											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528995.1_Missense_Mutation_p.S136Y|ILK_ENST00000537806.1_Missense_Mutation_p.F34L|RP11-732A19.2_ENST00000527398.1_RNA|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													10	628					6.40141e-05	6.5221e-05	1	1	0	A	6630170	C	A	6630170	3	1	22	1	0	0	0	0	1	0	0	0	7757	912	32	2	522	2	ILK	11	6630170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7608	6630170	128376346	11378	13524											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	225					0	0	1	0	0	T	6637257	C	T	6637257	3	4	22	1	0	0	0	0	1	0	0	0	16472	768	27	1	587	1	TPP1	11	6637257	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7087	6637257	128369259	11379	13525											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	313					0	0	1	0	0	G	6637890	A	G	6637890	5	3	22	1	0	0	0	0	0	0	1	0	16472	405	14	3	831	3	TPP1	11	6637890	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	633	6637890	128368626	11380	13526											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	51					0	0	1	0	0	T	6643477	C	T	6643477	3	4	22	1	0	0	0	0	1	0	0	0	4310	739	26	2	470	2	DCHS1	11	6643477	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5587	6643477	128363039	11381	13527											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	40					0	0	1	0	0	T	6643989	C	T	6643989	3	4	22	1	0	0	0	0	1	0	0	0	4310	739	26	2	982	2	DCHS1	11	6643989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	512	6643989	128362527	11382	13528											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	53					0	0	1	0	0	G	6644403	A	G	6644403	3	3	22	1	0	0	0	0	1	0	0	0	4310	159	6	3	1396	3	DCHS1	11	6644403	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	414	6644403	128362113	11383	13529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	369					0	0	1	0	0	A	6644979	G	A	6644979	3	1	22	1	0	0	0	0	1	0	0	0	4310	1294	45	2	1972	2	DCHS1	11	6644979	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	576	6644979	128361537	11384	13530											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	83					0	0	1	0	0	T	6645358	C	T	6645358	3	4	22	1	0	0	0	0	1	0	0	0	4310	768	27	1	2351	1	DCHS1	11	6645358	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	379	6645358	128361158	11385	13531											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	446					0	0	1	0	0	T	6647793	C	T	6647793	2	4	22	1	0	0	0	0	0	0	0	1	4310	796	28	2		2	DCHS1	11	6647793	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2435	6647793	128358723	11386	13532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	334					0	0	1	0	0	A	6651036	G	A	6651036	2	1	22	1	0	0	0	0	0	0	0	1	4310	1161	41	2		2	DCHS1	11	6651036	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3243	6651036	128355480	11387	13533											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	274					0	0	1	0	0	T	6651110	C	T	6651110	3	4	22	1	0	0	0	0	1	0	0	0	4310	893	31	1	5112	1	DCHS1	11	6651110	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74	6651110	128355406	11388	13534											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	135					2.62699e-14	2.8508e-14	1	1	0	T	6652301	G	T	6652301	3	4	22	1	0	0	0	0	1	0	0	0	4310	1000	35	2	6035	2	DCHS1	11	6652301	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1191	6652301	128354215	11389	13535											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	225					0	0	1	0	0	A	6661247	G	A	6661247	3	1	22	1	0	0	0	0	1	0	0	0	4310	971	34	2	8378	2	DCHS1	11	6661247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8946	6661247	128345269	11390	13536											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	576					1.07121e-22	1.21384e-22	1	1	0	T	6662109	G	T	6662109	3	4	22	1	0	0	0	0	1	0	0	0	4310	962	34	2	9240	2	DCHS1	11	6662109	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	862	6662109	128344407	11391	13537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	269					0	0	1	0	0	A	6790159	G	A	6790159	2	1	22	1	0	0	0	0	0	0	0	1	11033	1078	38	1		1	OR2AG2	11	6790159	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128050	6790159	128216357	11392	13538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	273					0	0	1	0	0	A	6816484	G	A	6816484	2	1	22	1	0	0	0	0	0	0	0	1	11233	958	34	2		2	OR6A2	11	6816484	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26325	6816484	128190032	11393	13539											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	422					0	0	1	0	0	A	6816737	G	A	6816737	3	1	22	1	0	0	0	0	1	0	0	0	11233	1174	41	2	784	2	OR6A2	11	6816737	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	253	6816737	128189779	11394	13540											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	316					0	0	1	0	0	T	6816882	C	T	6816882	3	4	22	1	0	0	0	0	1	0	0	0	11233	710	25	2	929	2	OR6A2	11	6816882	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145	6816882	128189634	11395	13541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													151	617					0	0	1	0	0	G	6867249	A	G	6867249	2	3	22	1	0	0	0	0	0	0	0	1	10941	98	4	3		3	OR10A5	11	6867249	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	50367	6867249	128139267	11396	13542											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	194					0	0	1	0	0	A	6913006	G	A	6913006	2	1	22	1	0	0	0	0	0	0	0	1	11042	958	34	2		2	OR2D2	11	6913006	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45757	6913006	128093510	11397	13543											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	217					0	0	1	0	0	T	6913214	C	T	6913214	3	4	22	1	0	0	0	0	1	0	0	0	11042	797	28	2	411	2	OR2D2	11	6913214	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208	6913214	128093302	11398	13544											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	193					5.18039e-06	5.32547e-06	1	1	0	A	7060067	C	A	7060067	3	1	22	1	0	0	0	0	1	0	0	0	10523	680	24	2	252	2	NLRP14	11	7060067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146853	7060067	127946449	11399	13545											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	341					0	0	1	0	0	T	7063707	C	T	7063707	2	4	22	1	0	0	0	0	0	0	0	1	10523	854	30	2		2	NLRP14	11	7063707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3640	7063707	127942809	11400	13546											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	438					2.14978e-47	2.64632e-47	1	1	0	T	7079535	G	T	7079535	3	4	22	1	0	0	0	0	1	0	0	0	10523	991	35	2	2513	2	NLRP14	11	7079535	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15828	7079535	127926981	11401	13547											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	124					0	0	1	0	0	A	7110430	G	A	7110430	3	1	22	1	0	0	0	0	1	0	0	0	13206	1059	37	1	81	1	RBMXL2	11	7110430	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30895	7110430	127896086	11402	13548											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	156					0	0	1	0	0	T	7111361	C	T	7111361	3	4	22	1	0	0	0	0	1	0	0	0	13206	893	31	1	1012	1	RBMXL2	11	7111361	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	931	7111361	127895155	11403	13549											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	84					0	0	1	0	0	T	7111476	C	T	7111476	2	4	22	1	0	0	0	0	0	0	0	1	13206	755	27	1		1	RBMXL2	11	7111476	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115	7111476	127895040	11404	13550											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	344					0	0	1	0	0	A	7441783	G	A	7441783	3	1	22	1	0	0	0	0	1	0	0	0	15538	1203	42	2	1406	2	SYT9	11	7441783	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	330307	7441783	127564733	11405	13551											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000530181.1_Silent_p.T235T|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Silent_p.T266T|PPFIBP2_ENST00000533792.1_Silent_p.T220T	NM_003621.3	NP_003612.2	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													23	124					0	0	1	0	0	T	7654163	C	T	7654163	2	4	22	1	0	0	0	0	0	0	0	1	12359	581	21	2		2	PPFIBP2	11	7654163	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212380	7654163	127352353	11406	13552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000530181.1_Missense_Mutation_p.I623T|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.I654T|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.I608T	NM_003621.3	NP_003612.2	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													78	308					0	0	1	0	0	C	7672936	T	C	7672936	3	2	22	1	0	0	0	0	1	0	0	0	12359	1435	50	3	2383	3	PPFIBP2	11	7672936	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18773	7672936	127333580	11407	13553											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7721940G>T	ENST00000454689.1	-	0	803				OVCH2_ENST00000534193.1_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													15	104					2.31682e-05	2.36778e-05	1	1	0	T	7721940	G	T	7721940	1	4	22	0	1	0	0	0	0	0	0	0	11371	958	34	2		2	OVCH2	11	7721940	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49004	7721940	127284576	11408	13554											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	208					1.20869e-33	1.43362e-33	1	1	0	A	7818353	C	A	7818353	3	1	22	1	0	0	0	0	1	0	0	0	11225	913	32	2	835	2	OR5P2	11	7818353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96413	7818353	127188163	11409	13555											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	328					0	0	1	0	0	G	7846775	T	G	7846775	3	3	22	1	0	0	0	0	1	0	0	0	11226	1696	59	3	193	3	OR5P3	11	7846775	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28422	7846775	127159741	11410	13556											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	527					0	0	1	0	0	A	7950054	G	A	7950054	2	1	22	1	0	0	0	0	0	0	0	1	10942	1252	44	2		2	OR10A6	11	7950054	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103279	7950054	127056462	11411	13557											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	296					0	0	1	0	0	G	7981244	A	G	7981244	3	3	22	1	0	0	0	0	1	0	0	0	10519	246	9	3	56	3	NLRP10	11	7981244	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31190	7981244	127025272	11412	13558											
NLRP10	338322	broad.mit.edu	37	chr11	7981307	7981308	+	Frame_Shift_Ins	INS	-	-	T													tgtccatggacagaaggacaINStttttgctcctccttaggtc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7981307_7981308insT	ENST00000328600.2	-	2	2012_2013	c.1851_1852insA	c.(1849-1854)aagtccfs	p.S618fs		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	618							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)		ACAGAAGGACATTTTTGCTCCT	0.396													62	249	---	---	---	---						T	7981308	-	T	7981307	7	5	22	1	0	1	1	0	0	0	0	0	10519	217	8	0	119	0	NLRP10	11	7981307	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	63	7981307	127025209	11413	13559											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	386					0	0	1	0	0	A	7982118	G	A	7982118	2	1	22	1	0	0	0	0	0	0	0	1	10519	929	33	2		2	NLRP10	11	7982118	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	811	7982118	127024398	11414	13560											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	165					0	0	1	0	0	A	8117116	G	A	8117116	3	1	22	1	0	0	0	0	1	0	0	0	16804	1232	43	2	698	2	TUB	11	8117116	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134998	8117116	126889400	11415	13561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	274					0	0	1	0	0	C	8118259	A	C	8118259	3	2	22	1	0	0	0	0	1	0	0	0	16804	304	11	3	826	3	TUB	11	8118259	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1143	8118259	126888257	11416	13562											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000309737.6_Silent_p.T123T|RIC3_ENST00000539720.1_Silent_p.T74T|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000335425.7_Intron|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													15	990					0	0	1	0	0	C	8159877	T	C	8159877	2	2	22	1	0	0	0	0	0	0	0	1	13404	1799	63	3		3	RIC3	11	8159877	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41618	8159877	126846639	11417	13563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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							32	170					0	0	1	0	0	T	8248572	C	T	8248572	2	4	22	1	0	0	0	0	0	0	0	1	8892	610	22	2		2	LMO1	11	8248572	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88695	8248572	126757944	11418	13564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396672.1_Missense_Mutation_p.K461T|STK33_ENST00000396673.1_Missense_Mutation_p.K395T|STK33_ENST00000315204.1_Missense_Mutation_p.K461T|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Missense_Mutation_p.K274T|STK33_ENST00000534493.1_Missense_Mutation_p.K420T			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													92	316					0	0	1	0	0	G	8414220	T	G	8414220	3	3	22	1	0	0	0	0	1	0	0	0	15356	1609	56	3	166	3	STK33	11	8414220	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	165648	8414220	126592296	11419	13565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8717975C>A	ENST00000534127.1	-	21	3676	c.3292_splice	c.e21+1	p.K1097_splice	ST5_ENST00000357665.1_Splice_Site_p.K1097_splice|ST5_ENST00000526757.1_Splice_Site_p.K677_splice|ST5_ENST00000313726.6_Splice_Site_p.K1097_splice|RP11-152H18.3_ENST00000529883.1_RNA|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Splice_Site_p.K569_splice|ST5_ENST00000526099.1_Splice_Site_p.K610_splice|ST5_ENST00000534278.1_Splice_Site_p.K288_splice|ST5_ENST00000530438.1_Splice_Site_p.K677_splice	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													280	1310					1.29601e-68	1.64372e-68	1	1	0	A	8717975	C	A	8717975	5	1	22	1	0	0	0	0	0	0	1	0	15276	695	24	2	134	2	ST5	11	8717975	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	303755	8717975	126288541	11420	13566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526757.1_Missense_Mutation_p.R262H|ST5_ENST00000313726.6_Missense_Mutation_p.R682H|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.R154H|ST5_ENST00000526099.1_Missense_Mutation_p.R195H|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													11	69					0	0	1	0	0	T	8734225	C	T	8734225	3	4	22	1	0	0	0	0	1	0	0	0	15276	768	27	1	1416	1	ST5	11	8734225	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16250	8734225	126272291	11421	13567											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526757.1_Missense_Mutation_p.N174D|ST5_ENST00000313726.6_Missense_Mutation_p.N594D|ST5_ENST00000530991.1_Missense_Mutation_p.N66D|ST5_ENST00000526099.1_Missense_Mutation_p.N107D|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													101	420					0	0	1	0	0	C	8737215	T	C	8737215	3	2	22	1	0	0	0	0	1	0	0	0	15276	1812	63	3	1693	3	ST5	11	8737215	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2990	8737215	126269301	11422	13568											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526757.1_Missense_Mutation_p.S37N|ST5_ENST00000313726.6_Missense_Mutation_p.S457N|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													76	300					0	0	1	0	0	T	8747727	C	T	8747727	3	4	22	1	0	0	0	0	1	0	0	0	15276	565	20	2	2111	2	ST5	11	8747727	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10512	8747727	126258789	11423	13569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528998.1_5'UTR|C11orf16_ENST00000525780.1_Silent_p.A105A	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													23	215					1.66031e-10	1.76115e-10	1	1	0	T	8950933	G	T	8950933	2	4	22	1	0	0	0	0	0	0	0	1	1635	1335	47	2		2	C11orf16	11	8950933	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203206	8950933	126055583	11424	13570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													134	583					0	0	1	0	0	A	9009763	G	A	9009763	3	1	22	1	0	0	0	0	1	0	0	0	10702	1116	39	1	508	1	NRIP3	11	9009763	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58830	9009763	125996753	11425	13571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527700.1_Silent_p.S500S|DENND5A_ENST00000530044.1_Silent_p.S1157S	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													162	740					0	0	1	0	0	T	9164309	C	T	9164309	2	4	22	1	0	0	0	0	0	0	0	1	4464	755	27	1		1	DENND5A	11	9164309	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154546	9164309	125842207	11426	13572											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527700.1_Silent_p.G357G|DENND5A_ENST00000530044.1_Silent_p.G1014G	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													85	466					1.42748e-55	1.78476e-55	1	1	0	T	9166622	G	T	9166622	2	4	22	1	0	0	0	0	0	0	0	1	4464	1190	42	2		2	DENND5A	11	9166622	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2313	9166622	125839894	11427	13573											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527700.1_Missense_Mutation_p.R192M|DENND5A_ENST00000530044.1_Missense_Mutation_p.R849M	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													39	194					3.61848e-18	4.01023e-18	1	1	0	A	9172287	C	A	9172287	3	1	22	1	0	0	0	0	1	0	0	0	4464	681	24	2	1357	2	DENND5A	11	9172287	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5665	9172287	125834229	11428	13574											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	453					1.71345e-61	2.15751e-61	1	1	0	A	9200460	C	A	9200460	3	1	22	1	0	0	0	0	1	0	0	0	4464	797	28	2	2315	2	DENND5A	11	9200460	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28173	9200460	125806056	11429	13575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	62					0	0	1	0	0	T	9335893	C	T	9335893	2	4	22	1	0	0	0	0	0	0	0	1	16225	755	27	1		1	TMEM41B	11	9335893	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135433	9335893	125670623	11430	13576											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	205					0	0	1	0	0	A	9746232	G	A	9746232	3	1	22	1	0	0	0	0	1	0	0	0	15481	943	33	2	456	2	SWAP70	11	9746232	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	410339	9746232	125260284	11431	13577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	162					4.14481e-20	4.63599e-20	1	1	0	T	9761736	G	T	9761736	3	4	22	1	0	0	0	0	1	0	0	0	15481	962	34	2	1231	2	SWAP70	11	9761736	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15504	9761736	125244780	11432	13578											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	511					0	0	1	0	0	A	9874236	G	A	9874236	3	1	22	1	0	0	0	0	1	0	0	0	13912	1116	39	1	3032	1	SBF2	11	9874236	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112500	9874236	125132280	11433	13579											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													240	1075					0	0	1	0	0	A	10051375	G	A	10051375	2	1	22	1	0	0	0	0	0	0	0	1	13912	929	33	2		2	SBF2	11	10051375	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177139	10051375	124955141	11434	13580											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	294					0	0	1	0	0	A	10064430	G	A	10064430	2	1	22	1	0	0	0	0	0	0	0	1	13912	963	34	2		2	SBF2	11	10064430	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13055	10064430	124942086	11435	13581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525063.1_Missense_Mutation_p.A173V|ADM_ENST00000534464.1_Missense_Mutation_p.A126V|ADM_ENST00000278175.5_Missense_Mutation_p.A173V|ADM_ENST00000530439.1_Missense_Mutation_p.A105V			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													47	206					0	0	1	0	0	T	10328148	C	T	10328148	3	4	22	1	0	0	0	0	1	0	0	0	320	797	28	2	528	2	ADM	11	10328148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	263718	10328148	124678368	11436	13582											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	444					0	0	1	0	0	A	10506432	G	A	10506432	3	1	22	1	0	0	0	0	1	0	0	0	583	1174	41	2	720	2	AMPD3	11	10506432	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178284	10506432	124500084	11437	13583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	MRVI1-AS1_ENST00000529979.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000531706.1_5'UTR|LYVE1_ENST00000529598.1_Nonsense_Mutation_p.E57*	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													72	745					2.69673e-31	3.17273e-31	1	1	0	A	10582264	C	A	10582264	4	1	22	1	0	0	0	0	0	1	0	0	9175	922	32	2	499	2	LYVE1	11	10582264	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75832	10582264	124424252	11438	13584											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000529979.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000436272.1_Missense_Mutation_p.A756T|MRVI1_ENST00000534266.2_Missense_Mutation_p.A468T|MRVI1_ENST00000558540.1_Missense_Mutation_p.A468T|MRVI1_ENST00000421747.1_Missense_Mutation_p.A774T|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000423302.2_Missense_Mutation_p.A783T|MRVI1_ENST00000424001.1_Missense_Mutation_p.A468T|MRVI1_ENST00000527509.2_Missense_Mutation_p.A692T|MRVI1_ENST00000541483.1_Missense_Mutation_p.A577T|MRVI1_ENST00000545852.1_Missense_Mutation_p.A468T|MRVI1_ENST00000531107.1_Missense_Mutation_p.A775T	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													75	275					0	0	1	0	0	T	10603427	C	T	10603427	3	4	22	1	0	0	0	0	1	0	0	0	9902	797	28	2	403	2	MRVI1	11	10603427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21163	10603427	124403089	11439	13585											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	136					0	0	1	0	0	T	10772966	C	T	10772966	3	4	22	1	0	0	0	0	1	0	0	0	4048	759	27	1	9	1	CTR9	11	10772966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169539	10772966	124233550	11440	13586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	229					0	0	1	0	0	T	10783548	C	T	10783548	3	4	22	1	0	0	0	0	1	0	0	0	4048	855	30	2	822	2	CTR9	11	10783548	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10582	10783548	124222968	11441	13587											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													253	1024					5.85207e-95	7.51948e-95	1	1	0	A	10789414	C	A	10789414	3	1	22	1	0	0	0	0	1	0	0	0	4048	681	24	2	1802	2	CTR9	11	10789414	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5866	10789414	124217102	11442	13588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	570					0	0	1	0	0	C	10793106	T	C	10793106	3	2	22	1	0	0	0	0	1	0	0	0	4048	1821	63	3	2461	3	CTR9	11	10793106	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3692	10793106	124213410	11443	13589											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001166176.1	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													73	370					0	0	1	0	0	T	10823295	C	T	10823295	2	4	22	1	0	0	0	0	0	0	0	1	5065	912	32	2		2	EIF4G2	11	10823295	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30189	10823295	124183221	11444	13590											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000326932.4_Missense_Mutation_p.H278P|DKK3_ENST00000525493.1_Missense_Mutation_p.H292P|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000450094.2_Missense_Mutation_p.H250P	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													7	172					0	0	1	0	0	G	11986231	T	G	11986231	3	3	22	1	0	0	0	0	1	0	0	0	4574	1696	59	3	223	3	DKK3	11	11986231	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1162936	11986231	123020285	11445	13591											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527546.1_Missense_Mutation_p.L551M|MICAL2_ENST00000379612.3_Missense_Mutation_p.L551M|MICAL2_ENST00000342902.5_Missense_Mutation_p.L551M	NM_014632.2	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													14	304					3.27435e-08	3.41456e-08	1	1	0	A	12246330	C	A	12246330	3	1	22	1	0	0	0	0	1	0	0	0	9618	680	24	2	1693	2	MICAL2	11	12246330	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	260099	12246330	122760186	11446	13592											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527546.1_Intron|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.A872V	NM_014632.2	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													40	422					0	0	1	0	0	T	12264276	C	T	12264276	3	4	22	1	0	0	0	0	1	0	0	0	9618	768	27	1	2685	1	MICAL2	11	12264276	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17946	12264276	122742240	11447	13593											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	443					0	0	1	0	0	A	12341278	G	A	12341278	3	1	22	1	0	0	0	0	1	0	0	0	9620	943	33	2	1472	2	MICALCL	11	12341278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77002	12341278	122665238	11448	13594											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	318					0	0	1	0	0	A	12371470	G	A	12371470	2	1	22	1	0	0	0	0	0	0	0	1	9620	1103	39	1		1	MICALCL	11	12371470	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30192	12371470	122635046	11449	13595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361905.4_Intron|TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000361985.2_Intron|TEAD1_ENST00000527636.1_Intron|TEAD1_ENST00000527575.1_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													7	291					0	0	1	0	0	T	12901216	C	T	12901216	3	4	22	1	0	0	0	0	1	0	0	0	15797	783	27	1		1	TEAD1	11	12901216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	529746	12901216	122105300	11450	13596											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:13378325G>A	ENST00000389708.3	+	6	534		c.e6+1		ARNTL_ENST00000361003.4_Splice_Site|ARNTL_ENST00000396441.3_Splice_Site|ARNTL_ENST00000403290.1_Splice_Site|ARNTL_ENST00000403510.3_Splice_Site|ARNTL_ENST00000401424.1_Splice_Site|ARNTL_ENST00000389707.4_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													56	230					0	0	1	0	0	A	13378325	G	A	13378325	5	1	22	1	0	0	0	0	0	0	1	0	966	1275	44	2	201	2	ARNTL	11	13378325	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	477109	13378325	121628191	11451	13597											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000530907.1_Nonsense_Mutation_p.R234*|BTBD10_ENST00000528120.1_Nonsense_Mutation_p.R178*	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													131	554					0	0	1	0	0	A	13438716	G	A	13438716	4	1	22	1	0	0	0	0	0	1	0	0	1540	1066	37	1	771	1	BTBD10	11	13438716	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60391	13438716	121567800	11452	13598											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	115					6.00712e-18	6.65163e-18	1	1	0	T	13743352	G	T	13743352	3	4	22	1	0	0	0	0	1	0	0	0	5707	1183	41	2	1237	2	FAR1	11	13743352	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	304636	13743352	121263164	11453	13599											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	150					0	0	1	0	0	T	14284446	C	T	14284446	1	4	22	0	1	0	0	0	0	0	0	0	15138	796	28	2		2	SPON1	11	14284446	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	541094	14284446	120722070	11454	13600											
COPB1	1315	broad.mit.edu	37	chr11	14501262	14501263	+	Splice_Site	INS	-	-	A													actgagaaattccattaactINSaaaagaaaaaaaaaaaaaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14501262_14501263insA	ENST00000249923.3	-	11	1513		c.e11-2		COPB1_ENST00000439561.2_Splice_Site	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1						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						TTCCATTAACTAAAAGAAAAAA	0.307													10	140	---	---	---	---						A	14501263	-	A	14501262	8	5	22	1	0	1	1	0	0	0	1	0	3751	1536	53	0	1698	0	COPB1	11	14501262	Splice_Site	INS	-	TCGA-IB-7651-01A-11D-2154-08	216816	14501262	120505254	11455	13601											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	504					0	0	1	0	0	T	14502316	C	T	14502316	3	4	22	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	1054	14502316	120504200	11456	13602											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	168					0	0	1	0	0	A	14504589	G	A	14504589	4	1	22	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	11457	13603											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	135					0	0	1	0	0	G	14510081	A	G	14510081	3	3	22	1	0	0	0	0	1	0	0	0	3751	14	1	3	2273	3	COPB1	11	14510081	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5492	14510081	120496435	11458	13604											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396393.1_Missense_Mutation_p.M140V|PSMA1_ENST00000418988.2_Missense_Mutation_p.M146V|PSMA1_ENST00000419365.2_Missense_Mutation_p.I120M|PSMA1_ENST00000555531.1_Missense_Mutation_p.I120M|PSMA1_ENST00000396394.2_Missense_Mutation_p.M140V			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													72	280					0	0	1	0	0	C	14535242	T	C	14535242	3	2	22	1	0	0	0	0	1	0	0	0	12715	1406	49	3	389	3	PSMA1	11	14535242	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25161	14535242	120471274	11459	13605											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14880590C>T	ENST00000282096.4	+	13	2875	c.2520_splice	c.e13-1	p.A841_splice	PDE3B_ENST00000455098.2_Splice_Site_p.A790_splice	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													67	322					0	0	1	0	0	T	14880590	C	T	14880590	5	4	22	1	0	0	0	0	0	0	1	0	11685	724	25	2	2572	2	PDE3B	11	14880590	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	345348	14880590	120125926	11460	13606											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	247					0	0	1	0	0	G	14902107	T	G	14902107	3	3	22	1	0	0	0	0	1	0	0	0	4196	1493	52	3	942	3	CYP2R1	11	14902107	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21517	14902107	120104409	11461	13607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000324229.6_Silent_p.A26A|CALCB_ENST00000533448.1_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)	49	232					0	0	1	0	0	A	15096342	G	A	15096342	2	1	22	1	0	0	0	0	0	0	0	1	2594	1074	38	1		1	CALCB	11	15096342	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194235	15096342	119910174	11462	13608											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	212					6.70999e-13	7.22283e-13	1	1	0	T	15134050	G	T	15134050	3	4	22	1	0	0	0	0	1	0	0	0	7808	971	34	2	37	2	INSC	11	15134050	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37708	15134050	119872466	11463	13609	86	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	209					0	0	1	0	0	A	15134052	G	A	15134052	3	1	22	1	0	0	0	0	1	0	0	0	7808	1059	37	1	39	1	INSC	11	15134052	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2	15134052	119872464	11464	13610	86	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15212360G>T	ENST00000379554.3	+	6	880	c.834_splice	c.e6+1	p.K278_splice	INSC_ENST00000525218.1_Splice_Site_p.K231_splice|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000530161.1_Splice_Site_p.K231_splice|INSC_ENST00000528567.1_Splice_Site_p.K231_splice|INSC_ENST00000379556.3_Splice_Site_p.K231_splice|INSC_ENST00000424273.1_Splice_Site_p.K231_splice	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													107	422					1.41219e-46	1.73556e-46	1	1	0	T	15212360	G	T	15212360	5	4	22	1	0	0	0	0	0	0	1	0	7808	1014	35	2	856	2	INSC	11	15212360	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78308	15212360	119794156	11465	13611											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525218.1_Missense_Mutation_p.R407H|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000530161.1_Missense_Mutation_p.R449H|INSC_ENST00000528567.1_Missense_Mutation_p.R449H|INSC_ENST00000379556.3_Missense_Mutation_p.R449H|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													7	226					0	0	1	0	0	A	15260573	G	A	15260573	3	1	22	1	0	0	0	0	1	0	0	0	7808	1145	40	1	1529	1	INSC	11	15260573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48213	15260573	119745943	11466	13612	87	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525218.1_Nonsense_Mutation_p.R410*|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000530161.1_Nonsense_Mutation_p.R452*|INSC_ENST00000528567.1_Nonsense_Mutation_p.R452*|INSC_ENST00000379556.3_Nonsense_Mutation_p.R452*|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													7	229					0	0	1	0	0	T	15260581	C	T	15260581	4	4	22	1	0	0	0	0	0	1	0	0	7808	644	23	1	1537	1	INSC	11	15260581	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8	15260581	119745935	11467	13613	87	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528429.1_Missense_Mutation_p.Y670H|SOX6_ENST00000396356.3_Missense_Mutation_p.Y650H|SOX6_ENST00000316399.6_Missense_Mutation_p.Y650H|SOX6_ENST00000527619.1_Missense_Mutation_p.Y646H|SOX6_ENST00000528252.1_Missense_Mutation_p.Y643H			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													102	453					0	0	1	0	0	G	16007925	A	G	16007925	3	3	22	1	0	0	0	0	1	0	0	0	15009	362	13	3	486	3	SOX6	11	16007925	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	747344	16007925	118998591	11468	13614											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528429.1_Silent_p.A371A|SOX6_ENST00000396356.3_Silent_p.A371A|SOX6_ENST00000316399.6_Silent_p.A371A|SOX6_ENST00000527619.1_Silent_p.A333A|SOX6_ENST00000528252.1_Silent_p.A330A			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													51	231					0	0	1	0	0	A	16077436	G	A	16077436	2	1	22	1	0	0	0	0	0	0	0	1	15009	1103	39	1		1	SOX6	11	16077436	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69511	16077436	118929080	11469	13615											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525684.1_Missense_Mutation_p.A30T|C11orf58_ENST00000527893.1_3'UTR			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	30										NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						TTGGGAGGCAGCAGACTTGGG	0.348													70	250					0	0	1	0	0	A	16766172	G	A	16766172	3	1	22	1	0	0	0	0	1	0	0	0	1656	971	34	2	94	2	C11orf58	11	16766172	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	688736	16766172	118240344	11470	13616											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000531066.1_Missense_Mutation_p.A1049T|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000532079.1_Silent_p.R55R			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													28	134					0	0	1	0	0	T	16811333	C	T	16811333	3	4	22	1	0	0	0	0	1	0	0	0	12109	739	26	2	228	2	PLEKHA7	11	16811333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45161	16811333	118195183	11471	13617											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000531066.1_Nonsense_Mutation_p.R737*|PLEKHA7_ENST00000532079.1_Intron			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													64	267					0	0	1	0	0	A	16823313	G	A	16823313	4	1	22	1	0	0	0	0	0	1	0	0	12109	1124	39	1	1188	1	PLEKHA7	11	16823313	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11980	16823313	118183203	11472	13618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000531066.1_Silent_p.P364P|PLEKHA7_ENST00000532079.1_Intron			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													11	404					0	0	1	0	0	T	16847918	C	T	16847918	2	4	22	1	0	0	0	0	0	0	0	1	12109	523	19	1		1	PLEKHA7	11	16847918	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24605	16847918	118158598	11473	13619											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000531066.1_Nonsense_Mutation_p.Y261*|PLEKHA7_ENST00000532079.1_Intron			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													85	318					9.35349e-44	1.14279e-43	1	1	0	T	16863183	G	T	16863183	4	4	22	1	0	0	0	0	0	1	0	0	12109	1024	36	2	2642	2	PLEKHA7	11	16863183	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15265	16863183	118143333	11474	13620											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000531066.1_Missense_Mutation_p.K135N|PLEKHA7_ENST00000532079.1_Intron			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													14	825					2.31682e-05	2.36778e-05	1	1	0	A	16877362	C	A	16877362	3	1	22	1	0	0	0	0	1	0	0	0	12109	796	28	2	3036	2	PLEKHA7	11	16877362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14179	16877362	118129154	11475	13621											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A536T	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													88	334					0	0	1	0	0	T	17141433	C	T	17141433	3	4	22	1	0	0	0	0	1	0	0	0	11957	768	27	1	2386	1	PIK3C2A	11	17141433	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	264071	17141433	117865083	11476	13622											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.E406D	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													85	316					0	0	1	0	0	G	17150888	T	G	17150888	3	3	22	1	0	0	0	0	1	0	0	0	11957	1606	56	3	2786	3	PIK3C2A	11	17150888	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9455	17150888	117855628	11477	13623											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.Q305R	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													106	436					0	0	1	0	0	C	17156420	T	C	17156420	3	2	22	1	0	0	0	0	1	0	0	0	11957	1580	55	3	3098	3	PIK3C2A	11	17156420	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5532	17156420	117850096	11478	13624											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	506					0	0	1	0	0	T	17190264	C	T	17190264	3	4	22	1	0	0	0	0	1	0	0	0	11957	884	31	1	4163	1	PIK3C2A	11	17190264	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33844	17190264	117816252	11479	13625											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_005004.1	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													156	660					0	0	1	0	0	T	17316892	C	T	17316892	2	4	22	1	0	0	0	0	0	0	0	1	10767	796	28	2		2	NUCB2	11	17316892	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126628	17316892	117689624	11480	13626											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	11	440					0	0	1	0	0	T	17408543	C	T	17408543	3	4	22	1	0	0	0	0	1	0	0	0	8089	652	23	1	80	1	KCNJ11	11	17408543	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91651	17408543	117597973	11481	13627											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	39	494					0	0	1	0	0	C	17408593	A	C	17408593	3	2	22	1	0	0	0	0	1	0	0	0	8089	72	3	3	130	3	KCNJ11	11	17408593	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	50	17408593	117597923	11482	13628											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	241					0	0	1	0	0	G	17414677	T	G	17414677	5	3	22	1	0	0	0	0	0	0	1	0	58	1594	55	3	142	3	ABCC8	11	17414677	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6084	17414677	117591839	11483	13629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	236					0	0	1	0	0	A	17496471	G	A	17496471	2	1	22	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	11484	13630											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527720.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527020.1_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													194	765					0	0	1	0	0	A	17517163	G	A	17517163	3	1	22	1	0	0	0	0	1	0	0	0	17094	1116	39	1	99	1	USH1C	11	17517163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20692	17517163	117489353	11485	13631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527720.1_Silent_p.S432S|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000318024.4_Silent_p.S463S|USH1C_ENST00000527020.1_Silent_p.S444S	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													5	125					1.23904e-05	1.26975e-05	1	1	0	T	17522689	G	T	17522689	2	4	22	1	0	0	0	0	0	0	0	1	17094	987	35	2		2	USH1C	11	17522689	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5526	17522689	117483827	11486	13632											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527720.1_Silent_p.V228V|USH1C_ENST00000318024.4_Silent_p.V259V|USH1C_ENST00000527020.1_Silent_p.V259V	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													39	161					0	0	1	0	0	A	17545008	G	A	17545008	2	1	22	1	0	0	0	0	0	0	0	1	17094	1045	37	1		1	USH1C	11	17545008	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22319	17545008	117461508	11487	13633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	111					0	0	1	0	0	A	17757938	G	A	17757938	3	1	22	1	0	0	0	0	1	0	0	0	8058	971	34	2	391	2	KCNC1	11	17757938	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	212930	17757938	117248578	11488	13634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	206					0	0	1	0	0	A	17793582	G	A	17793582	3	1	22	1	0	0	0	0	1	0	0	0	8058	1087	38	1	947	1	KCNC1	11	17793582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35644	17793582	117212934	11489	13635											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|TPH1_ENST00000525406.1_5'UTR|RP1-59M18.2_ENST00000525523.1_RNA	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													122	564					0	0	1	0	0	A	18042657	G	A	18042657	3	1	22	1	0	0	0	0	1	0	0	0	16462	1144	40	1	122	1	TPH1	11	18042657	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249075	18042657	116963859	11490	13636											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	100					7.41877e-09	7.77385e-09	1	1	0	A	18057690	C	A	18057690	5	1	22	1	0	0	0	0	0	0	1	0	16462	695	24	2	1253	2	TPH1	11	18057690	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15033	18057690	116948826	11491	13637											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000300013.4_Missense_Mutation_p.M191V|SAAL1_ENST00000529318.1_Missense_Mutation_p.M191V|SAAL1_ENST00000533851.1_5'UTR			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													11	204					0	0	1	0	0	C	18111740	T	C	18111740	3	2	22	1	0	0	0	0	1	0	0	0	13853	1406	49	3	881	3	SAAL1	11	18111740	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	54050	18111740	116894776	11492	13638											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													155	705					0	0	1	0	0	T	18159146	C	T	18159146	3	4	22	1	0	0	0	0	1	0	0	0	9817	652	23	1	399	1	MRGPRX3	11	18159146	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47406	18159146	116847370	11493	13639											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000322.2	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													4	57					0	0	1	0	0	C	18290872	A	C	18290872	3	2	22	1	0	0	0	0	1	0	0	0	13850	69	3	3	228	3	SAA1	11	18290872	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	131726	18290872	116715644	11494	13640											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000349215.3_Missense_Mutation_p.A790V|HPS5_ENST00000352460.3_5'UTR|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				32	169					0	0	1	0	0	A	18313060	G	A	18313060	3	1	22	1	0	0	0	0	1	0	0	0	7383	1087	38	1	1052	1	HPS5	11	18313060	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22188	18313060	116693456	11495	13641											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534641.1_Silent_p.S39S|GTF2H1_ENST00000453096.2_Silent_p.S155S|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)					87	411					0	0	1	0	0	G	18359773	T	G	18359773	2	3	22	1	0	0	0	0	0	0	0	1	6901	1596	56	3		3	GTF2H1	11	18359773	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46713	18359773	116646743	11496	13642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534641.1_Missense_Mutation_p.R427C|GTF2H1_ENST00000453096.2_Missense_Mutation_p.R543C|GTF2H1_ENST00000526630.2_Missense_Mutation_p.R133C|GTF2H1_ENST00000530496.2_Missense_Mutation_p.R231C	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)					25	135					0	0	1	0	0	T	18387396	C	T	18387396	3	4	22	1	0	0	0	0	1	0	0	0	6901	768	27	1	1681	1	GTF2H1	11	18387396	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27623	18387396	116619120	11497	13643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000251968.3_Silent_p.K90K|TSG101_ENST00000357193.3_Intron|TSG101_ENST00000543087.1_5'UTR			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													86	535					0	0	1	0	0	T	18536312	C	T	18536312	2	4	22	1	0	0	0	0	0	0	0	1	16677	796	28	2		2	TSG101	11	18536312	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148916	18536312	116470204	11498	13644											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000251968.3_Missense_Mutation_p.P85H|TSG101_ENST00000357193.3_Intron|TSG101_ENST00000543087.1_5'UTR			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													103	596					6.25226e-48	7.70577e-48	1	1	0	T	18536328	G	T	18536328	3	4	22	1	0	0	0	0	1	0	0	0	16677	1000	35	2	946	2	TSG101	11	18536328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16	18536328	116470188	11499	13645											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18557951A>G	ENST00000396197.3	-	10	1153		c.e10+1		UEVLD_ENST00000379387.4_Splice_Site|UEVLD_ENST00000540666.1_Splice_Site|UEVLD_ENST00000320750.6_Splice_Site|UEVLD_ENST00000543987.1_Splice_Site|UEVLD_ENST00000535484.1_Splice_Site|UEVLD_ENST00000541984.1_Intron	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													98	432					0	0	1	0	0	G	18557951	A	G	18557951	5	3	22	1	0	0	0	0	0	0	1	0	16993	405	14	3	301	3	UEVLD	11	18557951	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21623	18557951	116448565	11500	13646											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													141	526					0	0	1	0	0	C	18722484	A	C	18722484	3	2	22	1	0	0	0	0	1	0	0	0	16268	72	3	3	32	3	TMEM86A	11	18722484	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	164533	18722484	116284032	11501	13647											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	349					0	0	1	0	0	T	18723381	C	T	18723381	3	4	22	1	0	0	0	0	1	0	0	0	16268	710	25	2	558	2	TMEM86A	11	18723381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	897	18723381	116283135	11502	13648											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_775859.3	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													26	160					0	0	1	0	0	A	18729430	G	A	18729430	2	1	22	1	0	0	0	0	0	0	0	1	7644	958	34	2		2	IGSF22	11	18729430	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6049	18729430	116277086	11503	13649											
IGSF22	283284	broad.mit.edu	37	chr11	18741319	18741319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgagcagcccccgaaagtCggtgaaaccatactccatgc	9	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18741319C>T	ENST00000513874.1	-	7	779	c.640G>A	c.(640-642)Gac>Aac	p.D214N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	214	Lys-rich.									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						CCCCGAAAGTCGGTGAAACCA	0.517													218	933					0	0	1	0	0	T	18741319	C	T	18741319	3	4	22	1	0	0	0	0	1	0	0	0	7644	884	31	1	3408	1	IGSF22	11	18741319	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11889	18741319	116265197	11504	13650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	505					0	0	1	0	0	T	18955973	C	T	18955973	3	4	22	1	0	0	0	0	1	0	0	0	9815	768	27	1	613	1	MRGPRX1	11	18955973	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	214654	18955973	116050543	11505	13651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													188	829					0	0	1	0	0	A	19259489	G	A	19259489	3	1	22	1	0	0	0	0	1	0	0	0	4899	971	34	2	2441	2	E2F8	11	19259489	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	303516	19259489	115747027	11506	13652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000349880.4_Missense_Mutation_p.Q194H|NAV2_ENST00000360655.4_Missense_Mutation_p.Q130H|NAV2_ENST00000540292.1_Missense_Mutation_p.Q125H|NAV2_ENST00000527559.2_Missense_Mutation_p.Q123H|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000396087.3_Missense_Mutation_p.Q194H	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													98	406					9.24773e-40	1.11906e-39	1	1	0	T	19901485	G	T	19901485	3	4	22	1	0	0	0	0	1	0	0	0	10232	962	34	2	679	2	NAV2	11	19901485	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	641996	19901485	115105031	11507	13653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000349880.4_Missense_Mutation_p.Q246H|NAV2_ENST00000360655.4_Missense_Mutation_p.Q182H|NAV2_ENST00000540292.1_Missense_Mutation_p.Q177H|NAV2_ENST00000527559.2_Missense_Mutation_p.Q175H|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000396087.3_Missense_Mutation_p.Q246H	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													35	140					3.93418e-24	4.48831e-24	1	1	0	T	19901641	G	T	19901641	3	4	22	1	0	0	0	0	1	0	0	0	10232	962	34	2	835	2	NAV2	11	19901641	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156	19901641	115104875	11508	13654											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000349880.4_Missense_Mutation_p.G707E|NAV2_ENST00000360655.4_Missense_Mutation_p.G643E|NAV2_ENST00000540292.1_Missense_Mutation_p.G661E|NAV2_ENST00000527559.2_Missense_Mutation_p.G659E|NAV2_ENST00000396087.3_Missense_Mutation_p.G730E	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													29	133					0	0	1	0	0	A	19961293	G	A	19961293	3	1	22	1	0	0	0	0	1	0	0	0	10232	1174	41	2	2229	2	NAV2	11	19961293	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59652	19961293	115045223	11509	13655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000349880.4_Missense_Mutation_p.P1082L|NAV2_ENST00000360655.4_Missense_Mutation_p.P1018L|NAV2_ENST00000540292.1_Missense_Mutation_p.P1036L|NAV2_ENST00000527559.2_Missense_Mutation_p.P1034L|NAV2_ENST00000533917.1_Missense_Mutation_p.P168L|NAV2_ENST00000311043.8_Missense_Mutation_p.P168L|NAV2_ENST00000396087.3_Missense_Mutation_p.P1105L|NAV2-AS2_ENST00000533767.1_RNA	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													57	235					0	0	1	0	0	T	20066559	C	T	20066559	3	4	22	1	0	0	0	0	1	0	0	0	10232	681	24	2	3408	2	NAV2	11	20066559	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105266	20066559	114939957	11510	13656											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000349880.4_Missense_Mutation_p.N1661H|NAV2_ENST00000360655.4_Missense_Mutation_p.N1597H|NAV2_ENST00000540292.1_Missense_Mutation_p.N1648H|NAV2_ENST00000527559.2_Missense_Mutation_p.N1646H|NAV2_ENST00000533917.1_Missense_Mutation_p.N725H|NAV2_ENST00000311043.8_Missense_Mutation_p.N725H|NAV2_ENST00000396087.3_Missense_Mutation_p.N1717H	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													75	327					0	0	1	0	0	C	20089942	A	C	20089942	3	2	22	1	0	0	0	0	1	0	0	0	10232	14	1	3	5176	3	NAV2	11	20089942	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23383	20089942	114916574	11511	13657											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000530266.1_Missense_Mutation_p.A101V|HTATIP2_ENST00000451739.2_Splice_Site_p.A101_splice|HTATIP2_ENST00000443524.2_Splice_Site_p.A101_splice|HTATIP2_ENST00000421577.2_Splice_Site_p.A101_splice|HTATIP2_ENST00000531058.1_Splice_Site_p.A101_splice|HTATIP2_ENST00000419348.2_Splice_Site_p.A135_splice|HTATIP2_ENST00000532505.1_Missense_Mutation_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													11	346					0	0	1	0	0	T	20388826	C	T	20388826	3	4	22	1	0	0	0	0	1	0	0	0	7476	782	27	1	414	1	HTATIP2	11	20388826	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	298884	20388826	114617690	11512	13658											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443524.2_Missense_Mutation_p.S194F|HTATIP2_ENST00000421577.2_Missense_Mutation_p.S194F|HTATIP2_ENST00000531058.1_Missense_Mutation_p.S148F|HTATIP2_ENST00000419348.2_Missense_Mutation_p.S228F	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													28	124					0	0	1	0	0	T	20404603	C	T	20404603	3	4	22	1	0	0	0	0	1	0	0	0	7476	913	32	2	804	2	HTATIP2	11	20404603	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15777	20404603	114601913	11513	13659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_005779.1	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													66	291					0	0	1	0	0	A	20417453	G	A	20417453	3	1	22	1	0	0	0	0	1	0	0	0	12590	1203	42	2	527	2	PRMT3	11	20417453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12850	20417453	114589063	11514	13660											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_005779.1	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													13	249					1.52009e-12	1.63397e-12	1	1	0	A	20529951	C	A	20529951	3	1	22	1	0	0	0	0	1	0	0	0	12590	913	32	2	1650	2	PRMT3	11	20529951	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112498	20529951	114476565	11515	13661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	701					4.3838e-07	4.54049e-07	1	1	0	T	20629158	G	T	20629158	3	4	22	1	0	0	0	0	1	0	0	0	14742	1183	41	2	963	2	SLC6A5	11	20629158	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99207	20629158	114377358	11516	13662											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	437					0	0	1	0	0	A	20652292	G	A	20652292	3	1	22	1	0	0	0	0	1	0	0	0	14742	1145	40	1	1593	1	SLC6A5	11	20652292	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23134	20652292	114354224	11517	13663											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000532434.1_Missense_Mutation_p.R281Q|NELL1_ENST00000357134.5_Missense_Mutation_p.R281Q|NELL1_ENST00000325319.5_Missense_Mutation_p.R224Q			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													62	265					0	0	1	0	0	A	20948936	G	A	20948936	3	1	22	1	0	0	0	0	1	0	0	0	10380	1058	37	1	872	1	NELL1	11	20948936	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	296644	20948936	114057580	11518	13664											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000532434.1_Silent_p.N562N|NELL1_ENST00000357134.5_Silent_p.N609N|NELL1_ENST00000325319.5_Silent_p.N552N|NELL1_ENST00000529218.1_Intron			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													105	509					0	0	1	0	0	T	21581775	C	T	21581775	2	4	22	1	0	0	0	0	0	0	0	1	10380	535	19	1		1	NELL1	11	21581775	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	632839	21581775	113424741	11519	13665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	61					0	0	1	0	0	T	22225378	C	T	22225378	2	4	22	1	0	0	0	0	0	0	0	1	694	576	20	2		2	ANO5	11	22225378	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	643603	22225378	112781138	11520	13666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	406					0	0	1	0	0	A	22283829	G	A	22283829	2	1	22	1	0	0	0	0	0	0	0	1	694	1020	36	2		2	ANO5	11	22283829	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58451	22283829	112722687	11521	13667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	235					0	0	1	0	0	T	22301230	C	T	22301230	2	4	22	1	0	0	0	0	0	0	0	1	694	564	20	2		2	ANO5	11	22301230	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17401	22301230	112705286	11522	13668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	283					0	0	1	0	0	T	22363311	C	T	22363311	2	4	22	1	0	0	0	0	0	0	0	1	14476	697	25	2		2	SLC17A6	11	22363311	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62081	22363311	112643205	11523	13669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	215					2.95478e-19	3.29235e-19	1	1	0	A	22381043	C	A	22381043	2	1	22	1	0	0	0	0	0	0	0	1	14476	903	32	2		2	SLC17A6	11	22381043	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17732	22381043	112625473	11524	13670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22696559A>G	ENST00000454584.2	+	2	449	c.145_splice	c.e2+1	p.L48_splice	GAS2_ENST00000433790.1_Splice_Site_p.L48_splice|GAS2_ENST00000533092.1_3'UTR|GAS2_ENST00000278187.3_Splice_Site_p.L48_splice	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													33	158					0	0	1	0	0	G	22696559	A	G	22696559	5	3	22	1	0	0	0	0	0	0	1	0	6285	434	15	3	146	3	GAS2	11	22696559	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	315516	22696559	112309957	11525	13671											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433790.1_Missense_Mutation_p.S133L|GAS2_ENST00000278187.3_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													84	372					0	0	1	0	0	T	22747968	C	T	22747968	3	4	22	1	0	0	0	0	1	0	0	0	6285	893	31	1	408	1	GAS2	11	22747968	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51409	22747968	112258548	11526	13672											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433790.1_Missense_Mutation_p.R225W|GAS2_ENST00000278187.3_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													37	173					0	0	1	0	0	T	22777449	C	T	22777449	3	4	22	1	0	0	0	0	1	0	0	0	6285	759	27	1	695	1	GAS2	11	22777449	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29481	22777449	112229067	11527	13673											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525139.1_Missense_Mutation_p.P16L|ANO3_ENST00000531646.1_Missense_Mutation_p.P32L	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													151	718					0	0	1	0	0	T	26463513	C	T	26463513	3	4	22	1	0	0	0	0	1	0	0	0	692	652	23	1	101	1	ANO3	11	26463513	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3686064	26463513	108543003	11528	13674											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525139.1_Missense_Mutation_p.V75A|ANO3_ENST00000531646.1_Missense_Mutation_p.V91A	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													16	75					0	0	1	0	0	C	26465342	T	C	26465342	3	2	22	1	0	0	0	0	1	0	0	0	692	1696	59	3	282	3	ANO3	11	26465342	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1829	26465342	108541174	11529	13675											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537978.1_Missense_Mutation_p.E422K|ANO3_ENST00000525139.1_Missense_Mutation_p.E422K|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000531568.1_Missense_Mutation_p.E292K	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													226	1015					0	0	1	0	0	A	26574818	G	A	26574818	3	1	22	1	0	0	0	0	1	0	0	0	692	1291	45	2	1362	2	ANO3	11	26574818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109476	26574818	108431698	11530	13676											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000529242.1_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.S299Y|MUC15_ENST00000529533.1_Missense_Mutation_p.S326Y|MUC15_ENST00000281268.8_Missense_Mutation_p.S276Y|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.S276Y|ANO3_ENST00000256737.3_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													52	186					1.30916e-28	1.52443e-28	1	1	0	T	26582721	G	T	26582721	3	4	22	1	0	0	0	0	1	0	0	0	10020	942	33	2	112	2	MUC15	11	26582721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7903	26582721	108423795	11531	13677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525139.1_Missense_Mutation_p.V469F|ANO3_ENST00000531568.1_Missense_Mutation_p.V339F	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													74	350					2.6465e-34	3.14731e-34	1	1	0	T	26619917	G	T	26619917	3	4	22	1	0	0	0	0	1	0	0	0	692	1029	36	2	1511	2	ANO3	11	26619917	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37196	26619917	108386599	11532	13678											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525139.1_Missense_Mutation_p.E489K|ANO3_ENST00000531568.1_Missense_Mutation_p.E359K	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													81	382					0	0	1	0	0	A	26619977	G	A	26619977	3	1	22	1	0	0	0	0	1	0	0	0	692	1059	37	1	1571	1	ANO3	11	26619977	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	26619977	108386539	11533	13679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525139.1_Nonsense_Mutation_p.Y505*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.Y375*	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													22	136					0	0	1	0	0	G	26620437	T	G	26620437	4	3	22	1	0	0	0	0	0	1	0	0	692	1500	52	3	1625	3	ANO3	11	26620437	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	460	26620437	108386079	11534	13680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525139.1_Silent_p.T515T|ANO3_ENST00000531568.1_Silent_p.T385T	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													28	154					0	0	1	0	0	A	26620467	G	A	26620467	2	1	22	1	0	0	0	0	0	0	0	1	692	1103	39	1		1	ANO3	11	26620467	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30	26620467	108386049	11535	13681											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525139.1_Missense_Mutation_p.I803T|ANO3_ENST00000531568.1_Missense_Mutation_p.I673T	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													66	329					0	0	1	0	0	C	26669283	T	C	26669283	3	2	22	1	0	0	0	0	1	0	0	0	692	1435	50	3	2550	3	ANO3	11	26669283	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	48816	26669283	108337233	11536	13682											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395978.3_Missense_Mutation_p.E64K|BDNF_ENST00000356660.4_Missense_Mutation_p.E64K|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000530861.1_Missense_Mutation_p.E64K|BDNF_ENST00000533246.1_Missense_Mutation_p.E64K|BDNF_ENST00000314915.6_Missense_Mutation_p.E72K|BDNF_ENST00000395983.3_Missense_Mutation_p.E64K|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000525950.1_Missense_Mutation_p.E64K|BDNF_ENST00000438929.1_Missense_Mutation_p.E146K|BDNF_ENST00000533131.1_Missense_Mutation_p.E64K|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000420794.1_Missense_Mutation_p.E64K|BDNF_ENST00000395981.3_Missense_Mutation_p.E64K|BDNF_ENST00000418212.1_Missense_Mutation_p.E64K|BDNF_ENST00000439476.2_Missense_Mutation_p.E64K|BDNF_ENST00000395986.2_Missense_Mutation_p.E79K|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000395980.2_Missense_Mutation_p.E64K|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000532997.1_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													137	652					0	0	1	0	0	T	27679922	C	T	27679922	3	4	22	1	0	0	0	0	1	0	0	0	1392	893	31	1	557	1	BDNF	11	27679922	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1010639	27679922	107326594	11537	13683											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	282					0	0	1	0	0	T	30033579	C	T	30033579	3	4	22	1	0	0	0	0	1	0	0	0	8049	768	27	1	1318	1	KCNA4	11	30033579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2353657	30033579	104972937	11538	13684											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	217					0	0	1	0	0	G	30033811	T	G	30033811	2	3	22	1	0	0	0	0	0	0	0	1	8049	1608	56	3		3	KCNA4	11	30033811	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	232	30033811	104972705	11539	13685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	426					0	0	1	0	0	T	30033990	C	T	30033990	3	4	22	1	0	0	0	0	1	0	0	0	8049	797	28	2	1729	2	KCNA4	11	30033990	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179	30033990	104972526	11540	13686											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	224					0	0	1	0	0	A	30255204	G	A	30255204	3	1	22	1	0	0	0	0	1	0	0	0	6107	1116	39	1	253	1	FSHB	11	30255204	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	221214	30255204	104751312	11541	13687											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	313					0	0	1	0	0	A	30914541	G	A	30914541	3	1	22	1	0	0	0	0	1	0	0	0	4307	1392	48	2		2	DCDC1	11	30914541	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	659337	30914541	104091975	11542	13688											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	283					0	0	1	0	0	T	30915873	C	T	30915873	2	4	22	1	0	0	0	0	0	0	0	1	4307	812	28	2		2	DCDC1	11	30915873	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1332	30915873	104090643	11543	13689											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	88					0	0	1	0	0	A	30925196	G	A	30925196	3	1	22	1	0	0	0	0	1	0	0	0	4307	1218	42	2		2	DCDC1	11	30925196	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9323	30925196	104081320	11544	13690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	382					0	0	1	0	0	G	30938573	T	G	30938573	3	3	22	1	0	0	0	0	1	0	0	0	4307	1450	50	3		3	DCDC1	11	30938573	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13377	30938573	104067943	11545	13691											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	91					0	0	1	0	0	A	30942422	G	A	30942422	3	1	22	1	0	0	0	0	1	0	0	0	4307	1015	35	2		2	DCDC1	11	30942422	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3849	30942422	104064094	11546	13692											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	282					0	0	1	0	0	C	31115709	T	C	31115709	3	2	22	1	0	0	0	0	1	0	0	0	4307	1479	51	3		3	DCDC1	11	31115709	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	173287	31115709	103890807	11547	13693											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	298					0	0	1	0	0	C	31312288	A	C	31312288	3	2	22	1	0	0	0	0	1	0	0	0	4307	72	3	3	210	3	DCDC1	11	31312288	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	196579	31312288	103694228	11548	13694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	309					4.37588e-27	5.05892e-27	1	1	0	A	31805078	C	A	31805078	3	1	22	1	0	0	0	0	1	0	0	0	5110	870	30	2		2	ELP4	11	31805078	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	492790	31805078	103201438	11549	13695											
PAX6	5080	broad.mit.edu	37	chr11	31812317	31812317	+	Frame_Shift_Del	DEL	G	G	-													tcatgtgtgtctgcatatgtGggggggtgtaggtatcataa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:31812317delG	ENST00000419022.1	-	13	1634	c.1166delC	c.(1165-1167)cafs	p.P389fs	PAX6_ENST00000379115.4_Frame_Shift_Del_p.P389fs|PAX6_ENST00000379129.2_Frame_Shift_Del_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Del_p.P375fs|PAX6_ENST00000379132.3_Frame_Shift_Del_p.P375fs|PAX6_ENST00000241001.8_Frame_Shift_Del_p.P375fs|PAX6_ENST00000379123.5_Frame_Shift_Del_p.P375fs|PAX6_ENST00000379107.2_Frame_Shift_Del_p.P389fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.				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)					CTGCATATGTGGGGGGGTGTA	0.587									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				9	377	---	---	---	---						-	31812317	G	-	31812317	7	5	22	1	0	1	0	1	0	0	0	0	11530	1348	47	0	152	0	PAX6	11	31812317	Frame_Shift_Del	DEL	G	TCGA-IB-7651-01A-11D-2154-08	7239	31812317	103194199	11550	13696											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	524					2.38877e-60	3.0041e-60	1	1	0	A	32635356	C	A	32635356	3	1	22	1	0	0	0	0	1	0	0	0	2866	796	28	2	743	2	CCDC73	11	32635356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	823039	32635356	102371160	11551	13697											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	453					0	0	1	0	0	G	32635397	T	G	32635397	3	3	22	1	0	0	0	0	1	0	0	0	2866	1850	64	3	784	3	CCDC73	11	32635397	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41	32635397	102371119	11552	13698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	285					0	0	1	0	0	A	32955888	G	A	32955888	2	1	22	1	0	0	0	0	0	0	0	1	12934	1277	45	2		2	QSER1	11	32955888	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	320491	32955888	102050628	11553	13699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	410					2.14712e-25	2.46361e-25	1	1	0	A	32956758	C	A	32956758	2	1	22	1	0	0	0	0	0	0	0	1	12934	610	22	2		2	QSER1	11	32956758	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	870	32956758	102049758	11554	13700											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	301					0.000157383	0.000159814	1	1	0	A	32979504	C	A	32979504	3	1	22	1	0	0	0	0	1	0	0	0	12934	623	22	2	4476	2	QSER1	11	32979504	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22746	32979504	102027012	11555	13701											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	412					0	0	1	0	0	T	32987888	C	T	32987888	3	4	22	1	0	0	0	0	1	0	0	0	12934	478	17	2	4651	2	QSER1	11	32987888	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8384	32987888	102018628	11556	13702											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	302					0	0	1	0	0	G	33117913	T	G	33117913	3	3	22	1	0	0	0	0	1	0	0	0	4011	1838	64	3	867	3	CSTF3	11	33117913	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	130025	33117913	101888603	11557	13703											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33123884T>G	ENST00000323959.4	-	10	804	c.663_splice	c.e10-1	p.E222_splice	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													68	172					0	0	1	0	0	G	33123884	T	G	33123884	5	3	22	1	0	0	0	0	0	0	1	0	4011	1797	62	3	1536	3	CSTF3	11	33123884	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5971	33123884	101882632	11558	13704											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379016.3_Missense_Mutation_p.R1004Q|HIPK3_ENST00000456517.1_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													183	784					0	0	1	0	0	A	33373714	G	A	33373714	3	1	22	1	0	0	0	0	1	0	0	0	7159	1058	37	1	3132	1	HIPK3	11	33373714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249830	33373714	101632802	11559	13705											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000426650.2_Missense_Mutation_p.S25I|CD59_ENST00000437761.2_Missense_Mutation_p.S25I|CD59_ENST00000533403.1_Missense_Mutation_p.S25I|CD59_ENST00000445143.2_Missense_Mutation_p.S25I|CD59_ENST00000351554.3_Missense_Mutation_p.S25I|CD59_ENST00000534312.1_Missense_Mutation_p.S25I|CD59_ENST00000528700.1_Missense_Mutation_p.S25I|CD59_ENST00000415002.2_Missense_Mutation_p.S25I|CD59_ENST00000527577.1_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													15	100					1.99824e-07	2.07512e-07	1	1	0	A	33739011	C	A	33739011	3	1	22	1	0	0	0	0	1	0	0	0	3048	797	28	2	320	2	CD59	11	33739011	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	365297	33739011	101267505	11560	13706											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.L753M	NM_024662.2	NP_078938.2	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													104	462					2.14978e-47	2.64632e-47	1	1	0	A	34162000	C	A	34162000	3	1	22	1	0	0	0	0	1	0	0	0	10222	796	28	2	2563	2	NAT10	11	34162000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	422989	34162000	100844516	11561	13707											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	190					2.24893e-16	2.47056e-16	1	1	0	T	34181856	G	T	34181856	4	4	22	1	0	0	0	0	0	1	0	0	103	963	34	2	659	2	ABTB2	11	34181856	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19856	34181856	100824660	11562	13708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Silent_p.P235P	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													7	76					0	0	1	0	0	T	34194836	C	T	34194836	2	4	22	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	11563	13709											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	567					0	0	1	0	0	A	34482810	G	A	34482810	3	1	22	1	0	0	0	0	1	0	0	0	2704	1319	46	2	1103	2	CAT	11	34482810	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	287974	34482810	100523706	11564	13710											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000278386.6_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.S226I|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.S226I|CD44_ENST00000352818.4_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.S226I	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													30	127					1.06801e-11	1.14091e-11	1	1	0	T	35218302	G	T	35218302	3	4	22	1	0	0	0	0	1	0	0	0	3039	971	34	2	699	2	CD44	11	35218302	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	735492	35218302	99788214	11565	13711											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000278386.6_Missense_Mutation_p.N121Y|CD44_ENST00000433892.2_Missense_Mutation_p.E459D|CD44_ENST00000437706.2_Missense_Mutation_p.E640D|CD44_ENST00000526669.2_Missense_Mutation_p.E172D|CD44_ENST00000360158.4_Missense_Mutation_p.E362D|CD44_ENST00000428726.2_Missense_Mutation_p.E708D|CD44_ENST00000415148.2_Missense_Mutation_p.E665D|CD44_ENST00000433354.2_Missense_Mutation_p.E680D|CD44_ENST00000352818.4_Missense_Mutation_p.E306D|CD44_ENST00000434472.2_Missense_Mutation_p.E395D|CD44_ENST00000449691.2_Missense_Mutation_p.E665D	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													107	485					0	0	1	0	0	T	35250775	A	T	35250775	3	4	22	1	0	0	0	0	1	0	0	0	3039	14	1	5	2194	5	CD44	11	35250775	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32473	35250775	99755741	11566	13712											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395753.1_Missense_Mutation_p.T41M|SLC1A2_ENST00000395750.1_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													51	267					0	0	1	0	0	A	35338932	G	A	35338932	3	1	22	1	0	0	0	0	1	0	0	0	14487	1145	40	1	1615	1	SLC1A2	11	35338932	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88157	35338932	99667584	11567	13713											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000278360.3_Missense_Mutation_p.L377I|PAMR1_ENST00000378878.3_Missense_Mutation_p.L249I|PAMR1_ENST00000532848.1_Missense_Mutation_p.L320I	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													86	399					8.78217e-53	1.09303e-52	1	1	0	T	35461197	G	T	35461197	3	4	22	1	0	0	0	0	1	0	0	0	11460	942	33	2	1100	2	PAMR1	11	35461197	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122265	35461197	99545319	11568	13714											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000529759.1_3'UTR|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.R190W	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													18	448					0	0	1	0	0	T	36248778	C	T	36248778	3	4	22	1	0	0	0	0	1	0	0	0	8746	759	27	1	616	1	LDLRAD3	11	36248778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	787581	36248778	98757738	11569	13715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000530639.1_Missense_Mutation_p.S48N|PRR5L_ENST00000527487.1_Missense_Mutation_p.S48N|PRR5L_ENST00000311599.5_Missense_Mutation_p.S22N|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													19	126					0	0	1	0	0	A	36422814	G	A	36422814	3	1	22	1	0	0	0	0	1	0	0	0	12652	971	34	2	151	2	PRR5L	11	36422814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174036	36422814	98583702	11570	13716											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000530639.1_Missense_Mutation_p.A353V|PRR5L_ENST00000311599.5_Missense_Mutation_p.A280V|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													8	319					0	0	1	0	0	T	36484237	C	T	36484237	3	4	22	1	0	0	0	0	1	0	0	0	12652	739	26	2	1094	2	PRR5L	11	36484237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61423	36484237	98522279	11571	13717											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000439.1	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				77	337					1.20111e-47	1.47919e-47	1	1	0	T	36596004	G	T	36596004	4	4	22	1	0	0	0	0	0	1	0	0	13055	943	33	2	1152	2	RAG1	11	36596004	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111767	36596004	98410512	11572	13718											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527150.1_Missense_Mutation_p.T491P|LRRC4C_ENST00000530763.1_Missense_Mutation_p.T491P|LRRC4C_ENST00000528697.1_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													37	216					0	0	1	0	0	G	40136372	T	G	40136372	3	3	22	1	0	0	0	0	1	0	0	0	9053	1696	59	3	455	3	LRRC4C	11	40136372	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3540368	40136372	94870144	11573	13719											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527150.1_Missense_Mutation_p.P283H|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P283H|LRRC4C_ENST00000528697.1_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													16	698					4.14922e-12	4.44601e-12	1	1	0	T	40136995	G	T	40136995	3	4	22	1	0	0	0	0	1	0	0	0	9053	1000	35	2	1078	2	LRRC4C	11	40136995	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	623	40136995	94869521	11574	13720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43342961A>C	ENST00000378852.3	+	4	451	c.325_splice	c.e4-1	p.D109_splice	API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Splice_Site_p.D98_splice|API5_ENST00000420461.2_Splice_Site_p.D55_splice|API5_ENST00000534600.1_Splice_Site_p.D109_splice|API5_ENST00000531273.1_Splice_Site_p.D109_splice	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													42	206					0	0	1	0	0	C	43342961	A	C	43342961	5	2	22	1	0	0	0	0	0	0	1	0	769	347	12	3	340	3	API5	11	43342961	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3205966	43342961	91663555	11575	13721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534695.1_Intron|API5_ENST00000455725.2_Silent_p.Q194Q|API5_ENST00000420461.2_Silent_p.Q151Q|API5_ENST00000534600.1_Silent_p.Q205Q|API5_ENST00000531273.1_Silent_p.Q205Q	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													88	434					0	0	1	0	0	A	43345051	G	A	43345051	2	1	22	1	0	0	0	0	0	0	0	1	769	933	33	2		2	API5	11	43345051	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2090	43345051	91661465	11576	13722											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534695.1_Intron|API5_ENST00000455725.2_Missense_Mutation_p.C230Y|API5_ENST00000420461.2_Missense_Mutation_p.C187Y|API5_ENST00000534600.1_Missense_Mutation_p.C241Y|API5_ENST00000531273.1_Missense_Mutation_p.C241Y	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													59	736					0	0	1	0	0	A	43345158	G	A	43345158	3	1	22	1	0	0	0	0	1	0	0	0	769	1319	46	2	744	2	API5	11	43345158	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107	43345158	91661358	11577	13723											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534695.1_Intron|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000455725.2_Missense_Mutation_p.R371W|API5_ENST00000420461.2_Missense_Mutation_p.R328W|API5_ENST00000534600.1_Missense_Mutation_p.R382W|API5_ENST00000531273.1_Missense_Mutation_p.R382W	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													55	211					0	0	1	0	0	T	43351531	C	T	43351531	3	4	22	1	0	0	0	0	1	0	0	0	769	527	19	1	1182	1	API5	11	43351531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6373	43351531	91654985	11578	13724											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534695.1_Intron|API5_ENST00000378852.3_Intron|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000455725.2_Intron|API5_ENST00000420461.2_Intron|API5_ENST00000529334.1_Intron|API5_ENST00000531273.1_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													119	423					1.81606e-51	2.2538e-51	1	1	0	T	43357578	G	T	43357578	3	4	22	1	0	0	0	0	1	0	0	0	769	957	33	2		2	API5	11	43357578	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6047	43357578	91648938	11579	13725											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	261					0	0	1	0	0	T	43418341	C	T	43418341	3	4	22	1	0	0	0	0	1	0	0	0	16746	739	26	2	768	2	TTC17	11	43418341	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60763	43418341	91588175	11580	13726											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43418898C>T	ENST00000039989.4	+	7	789	c.773_splice	c.e7-1	p.H259_splice	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Splice_Site_p.H259_splice	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													99	462					0	0	1	0	0	T	43418898	C	T	43418898	5	4	22	1	0	0	0	0	0	0	1	0	16746	724	25	2	801	2	TTC17	11	43418898	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	557	43418898	91587618	11581	13727											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	132					0	0	1	0	0	T	43423045	C	T	43423045	2	4	22	1	0	0	0	0	0	0	0	1	16746	747	26	2		2	TTC17	11	43423045	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4147	43423045	91583471	11582	13728											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	325					0	0	1	0	0	G	43837021	A	G	43837021	2	3	22	1	0	0	0	0	0	0	0	1	7422	98	4	3		3	HSD17B12	11	43837021	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	413976	43837021	91169495	11583	13729											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	366					0	0	1	0	0	T	44069708	C	T	44069708	3	4	22	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	11584	13730											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	245					0	0	1	0	0	A	44074969	G	A	44074969	3	1	22	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	11585	13731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	475					0	0	1	0	0	A	44080142	G	A	44080142	3	1	22	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	11586	13732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	186					0.0135373	0.0136081	1	1	0	T	44105286	G	T	44105286	3	4	22	1	0	0	0	0	1	0	0	0	133	1029	36	2	1504	2	ACCS	11	44105286	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25144	44105286	90901230	11587	13733											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343631.3_Missense_Mutation_p.L35M|EXT2_ENST00000533608.1_Missense_Mutation_p.L35M|EXT2_ENST00000358681.4_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				84	368					1.07134e-49	1.32585e-49	1	1	0	A	44129365	C	A	44129365	3	1	22	1	0	0	0	0	1	0	0	0	5352	680	24	2	208	2	EXT2	11	44129365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24079	44129365	90877151	11588	13734											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343631.3_Missense_Mutation_p.S332I|EXT2_ENST00000533608.1_Missense_Mutation_p.S332I|EXT2_ENST00000358681.4_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				14	904					1.49906e-05	1.53515e-05	1	1	0	T	44148421	G	T	44148421	3	4	22	1	0	0	0	0	1	0	0	0	5352	971	34	2	1116	2	EXT2	11	44148421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19056	44148421	90858095	11589	13735											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343631.3_Missense_Mutation_p.R557W|EXT2_ENST00000533608.1_Missense_Mutation_p.R557W|EXT2_ENST00000358681.4_Missense_Mutation_p.R567W	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				52	229					0	0	1	0	0	T	44253909	C	T	44253909	3	4	22	1	0	0	0	0	1	0	0	0	5352	759	27	1	1907	1	EXT2	11	44253909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105488	44253909	90752607	11590	13736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													158	682					0	0	1	0	0	T	44296954	C	T	44296954	3	4	22	1	0	0	0	0	1	0	0	0	554	536	19	1	526	1	ALX4	11	44296954	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43045	44296954	90709562	11591	13737											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424263.2_Silent_p.V421V|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000530656.1_Silent_p.V455V			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													280	1240					0	0	1	0	0	C	45246288	T	C	45246288	2	2	22	1	0	0	0	0	0	0	0	1	12504	1770	62	3		3	PRDM11	11	45246288	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	949334	45246288	89760228	11592	13738											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	317					2.00703e-41	2.43794e-41	1	1	0	T	45265679	G	T	45265679	3	4	22	1	0	0	0	0	1	0	0	0	15526	942	33	2	79	2	SYT13	11	45265679	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19391	45265679	89740837	11593	13739											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	51					1.99824e-07	2.07512e-07	1	1	0	T	45307687	G	T	45307687	4	4	22	1	0	0	0	0	0	1	0	0	15526	1079	38	4	1232	4	SYT13	11	45307687	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42008	45307687	89698829	11594	13740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	232					0	0	1	0	0	A	45832503	G	A	45832503	3	1	22	1	0	0	0	0	1	0	0	0	14634	1087	38	1	718	1	SLC35C1	11	45832503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	524816	45832503	89174013	11595	13741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	171					0	0	1	0	0	A	45924210	G	A	45924210	3	1	22	1	0	0	0	0	1	0	0	0	9334	1087	38	1	910	1	MAPK8IP1	11	45924210	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91707	45924210	89082306	11596	13742											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	484					0	0	1	0	0	T	45928146	C	T	45928146	3	4	22	1	0	0	0	0	1	0	0	0	1679	893	31	1	29	1	C11orf94	11	45928146	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3936	45928146	89078370	11597	13743											
C11orf94	143678	broad.mit.edu	37	chr11	45928432	45928432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatactaccatccaccaggcCggaaagtggctgcgagagtt	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45928432C>T	ENST00000449465.1	-	2	199	c.163G>A	c.(163-165)Ggc>Agc	p.G55S		NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94	55						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						TCCACCAGGCCGGAAAGTGGC	0.617													71	411					0	0	1	0	0	T	45928432	C	T	45928432	3	4	22	1	0	0	0	0	1	0	0	0	1679	652	23	1	141	1	C11orf94	11	45928432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286	45928432	89078084	11598	13744											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_476515.1	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													73	328					0	0	1	0	0	A	45931662	G	A	45931662	3	1	22	1	0	0	0	0	1	0	0	0	11791	1087	38	1	25	1	PEX16	11	45931662	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3230	45931662	89074854	11599	13745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000325468.5_Missense_Mutation_p.A386D|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.A355D|GYLTL1B_ENST00000389968.3_Missense_Mutation_p.A113D|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.A355D|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.A386D	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													49	216					1.51926e-22	1.72e-22	1	1	0	A	45948141	C	A	45948141	3	1	22	1	0	0	0	0	1	0	0	0	6948	797	28	2	1187	2	GYLTL1B	11	45948141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16479	45948141	89058375	11600	13746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000323180.6_Missense_Mutation_p.A191V|PHF21A_ENST00000418153.2_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													47	176					0	0	1	0	0	A	45992707	G	A	45992707	3	1	22	1	0	0	0	0	1	0	0	0	11881	1319	46	2	1548	2	PHF21A	11	45992707	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44566	45992707	89013809	11601	13747											
PHF21A	51317	broad.mit.edu	37	chr11	46001356	46001358	+	In_Frame_Del	DEL	GTG	GTG	-													gctgcagctgactgctgggcGtggtggtggtggtactgctg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46001356_46001358delGTG	ENST00000257821.4	-	6	936_938	c.313_315delCAC	c.(313-315)del	p.H105del	PHF21A_ENST00000418153.2_In_Frame_Del_p.H105del|PHF21A_ENST00000323180.6_In_Frame_Del_p.H105del	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	105	Gln-rich.				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						actgctgggcgtggtggtggtgg	0.488													7	338	---	---	---	---						-	46001358	GTG	-	46001356	7	5	22	1	0	1	0	1	0	0	0	0	11881	1136	40	0	1809	0	PHF21A	11	46001356	In_Frame_Del	DEL	GTG	TCGA-IB-7651-01A-11D-2154-08	8649	46001356	89005160	11602	13748											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								113	484					0	0	1	0	0	A	46332593	G	A	46332593	2	1	22	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	331237	46332593	88673923	11603	13749											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								22	76					0	0	1	0	0	T	46341984	C	T	46341984	2	4	22	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	11604	13750											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								14	54					0	0	1	0	0	A	46342045	G	A	46342045	3	1	22	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	11605	13751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395574.3_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000532868.2_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													14	96					0	0	1	0	0	T	46387834	C	T	46387834	3	4	22	1	0	0	0	0	1	0	0	0	4502	643	23	1	474	1	DGKZ	11	46387834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45789	46387834	88618682	11606	13752											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395574.3_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000532868.2_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													5	42					0	0	1	0	0	A	46387913	G	A	46387913	3	1	22	1	0	0	0	0	1	0	0	0	4502	1087	38	1	553	1	DGKZ	11	46387913	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79	46387913	88618603	11607	13753											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395574.3_Missense_Mutation_p.A753D|DGKZ_ENST00000456247.2_Missense_Mutation_p.A786D|DGKZ_ENST00000528615.1_Missense_Mutation_p.A565D|DGKZ_ENST00000543978.1_Missense_Mutation_p.A139D|DGKZ_ENST00000527911.1_Missense_Mutation_p.A787D|DGKZ_ENST00000318201.8_Missense_Mutation_p.A764D|DGKZ_ENST00000421244.2_Missense_Mutation_p.A787D|DGKZ_ENST00000343674.6_Missense_Mutation_p.A803D|DGKZ_ENST00000532868.2_Missense_Mutation_p.A791D	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													11	54					1.61879e-10	1.71755e-10	1	1	0	A	46399765	C	A	46399765	3	1	22	1	0	0	0	0	1	0	0	0	4502	797	28	2	3473	2	DGKZ	11	46399765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11852	46399765	88606751	11608	13754											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407067.1_Missense_Mutation_p.G99D|MDK_ENST00000359803.3_Missense_Mutation_p.G99D|MDK_ENST00000395565.1_Missense_Mutation_p.G99D|MDK_ENST00000395566.4_Missense_Mutation_p.G99D|MDK_ENST00000533283.1_3'UTR|MDK_ENST00000395569.4_Missense_Mutation_p.G43D	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													31	97					0	0	1	0	0	A	46404188	G	A	46404188	3	1	22	1	0	0	0	0	1	0	0	0	9461	1203	42	2	306	2	MDK	11	46404188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4423	46404188	88602328	11609	13755											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	77					0.014758	0.0148251	1	1	0	A	46407334	C	A	46407334	2	1	22	1	0	0	0	0	0	0	0	1	3401	755	27	4		4	CHRM4	11	46407334	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3146	46407334	88599182	11610	13756											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533727.1_Missense_Mutation_p.P1136L|AMBRA1_ENST00000426438.1_Missense_Mutation_p.P1226L|AMBRA1_ENST00000314845.3_Missense_Mutation_p.P1165L|AMBRA1_ENST00000534300.1_Missense_Mutation_p.P1195L			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													14	246					0	0	1	0	0	A	46419133	G	A	46419133	3	1	22	1	0	0	0	0	1	0	0	0	561	1232	43	2	136	2	AMBRA1	11	46419133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11799	46419133	88587383	11611	13757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533727.1_Nonsense_Mutation_p.R1105*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.R1195*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.R1134*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.R1164*			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													54	244					0	0	1	0	0	A	46419227	G	A	46419227	4	1	22	1	0	0	0	0	0	1	0	0	561	1095	38	1	230	1	AMBRA1	11	46419227	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94	46419227	88587289	11612	13758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533727.1_Missense_Mutation_p.A995V|AMBRA1_ENST00000426438.1_Missense_Mutation_p.A1085V|AMBRA1_ENST00000314845.3_Missense_Mutation_p.A1024V|AMBRA1_ENST00000534300.1_Missense_Mutation_p.A1054V			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													34	172					0	0	1	0	0	A	46430125	G	A	46430125	3	1	22	1	0	0	0	0	1	0	0	0	561	1203	42	2	563	2	AMBRA1	11	46430125	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10898	46430125	88576391	11613	13759											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													218	787					0	0	1	0	0	T	46637220	C	T	46637220	3	4	22	1	0	0	0	0	1	0	0	0	6999	864	30	2	489	2	HARBI1	11	46637220	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207095	46637220	88369296	11614	13760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_004308.2	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													19	89					0	0	1	0	0	A	46717607	G	A	46717607	2	1	22	1	0	0	0	0	0	0	0	1	858	1078	38	1		1	ARHGAP1	11	46717607	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80387	46717607	88288909	11615	13761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	443					0	0	1	0	0	T	46726259	C	T	46726259	3	4	22	1	0	0	0	0	1	0	0	0	17945	759	27	1	1059	1	ZNF408	11	46726259	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8652	46726259	88280257	11616	13762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	162					0	0	1	0	0	T	46726961	C	T	46726961	3	4	22	1	0	0	0	0	1	0	0	0	17945	768	27	1	1761	1	ZNF408	11	46726961	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	702	46726961	88279555	11617	13763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	741					0	0	1	0	0	T	46744800	C	T	46744800	2	4	22	1	0	0	0	0	0	0	0	1	5370	747	26	2		2	F2	11	46744800	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17839	46744800	88261716	11618	13764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	367					0	0	1	0	0	A	46771875	G	A	46771875	3	1	22	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	11619	13765											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	380					0	0	1	0	0	A	46784532	G	A	46784532	2	1	22	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	11620	13766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	558					0	0	1	0	0	A	46800054	G	A	46800054	2	1	22	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	11621	13767											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	113	450					0	0	1	0	0	A	46911059	G	A	46911059	2	1	22	1	0	0	0	0	0	0	0	1	9004	1136	40	1		1	LRP4	11	46911059	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111005	46911059	88095457	11622	13768											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	145					3.76114e-14	4.07806e-14	1	1	0	A	46914620	C	A	46914620	3	1	22	1	0	0	0	0	1	0	0	0	9004	681	24	2	4220	2	LRP4	11	46914620	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3561	46914620	88091896	11623	13769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	486					0	0	1	0	0	A	46917842	G	A	46917842	3	1	22	1	0	0	0	0	1	0	0	0	9004	1087	38	1	4870	1	LRP4	11	46917842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3222	46917842	88088674	11624	13770											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	1002					1.05317e-09	1.11087e-09	1	1	0	A	46920210	C	A	46920210	3	1	22	1	0	0	0	0	1	0	0	0	9004	768	27	4	5150	4	LRP4	11	46920210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2368	46920210	88086306	11625	13771											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000441012.2_Missense_Mutation_p.P23S|NR1H3_ENST00000405853.3_Missense_Mutation_p.P23S|NR1H3_ENST00000395397.3_5'UTR|NR1H3_ENST00000407404.1_Missense_Mutation_p.P23S|NR1H3_ENST00000405576.1_5'UTR|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000481889.2_5'UTR			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)	43	244					0	0	1	0	0	T	47281365	C	T	47281365	3	4	22	1	0	0	0	0	1	0	0	0	10666	739	26	2	73	2	NR1H3	11	47281365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	361155	47281365	87725151	11626	13772											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000441012.2_Missense_Mutation_p.A105T|NR1H3_ENST00000405853.3_Missense_Mutation_p.A105T|NR1H3_ENST00000527949.1_Missense_Mutation_p.A14T|NR1H3_ENST00000395397.3_Missense_Mutation_p.A60T|NR1H3_ENST00000407404.1_Missense_Mutation_p.A105T|NR1H3_ENST00000405576.1_Missense_Mutation_p.A60T|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000481889.2_Missense_Mutation_p.A60T			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													76	334					0	0	1	0	0	A	47282040	G	A	47282040	3	1	22	1	0	0	0	0	1	0	0	0	10666	1203	42	2	323	2	NR1H3	11	47282040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	675	47282040	87724476	11627	13773											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000311027.5_Missense_Mutation_p.R72Q|MADD_ENST00000402192.2_Missense_Mutation_p.R72Q|MADD_ENST00000349238.3_Missense_Mutation_p.R72Q|MADD_ENST00000402799.1_Missense_Mutation_p.R72Q|MADD_ENST00000395344.3_Missense_Mutation_p.R72Q|MADD_ENST00000406482.1_Missense_Mutation_p.R72Q|MADD_ENST00000395336.3_Missense_Mutation_p.R72Q|MADD_ENST00000407859.3_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													233	942					0	0	1	0	0	A	47296266	G	A	47296266	3	1	22	1	0	0	0	0	1	0	0	0	9198	1116	39	1	221	1	MADD	11	47296266	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14226	47296266	87710250	11628	13774											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000311027.5_Missense_Mutation_p.F97L|MADD_ENST00000402192.2_Missense_Mutation_p.F97L|MADD_ENST00000349238.3_Missense_Mutation_p.F97L|MADD_ENST00000402799.1_Missense_Mutation_p.F97L|MADD_ENST00000395344.3_Missense_Mutation_p.F97L|MADD_ENST00000406482.1_Missense_Mutation_p.F97L|MADD_ENST00000395336.3_Missense_Mutation_p.F97L|MADD_ENST00000407859.3_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													116	415					7.59108e-50	9.39492e-50	1	1	0	A	47296342	C	A	47296342	3	1	22	1	0	0	0	0	1	0	0	0	9198	912	32	2	297	2	MADD	11	47296342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76	47296342	87710174	11629	13775											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000256993.4_Missense_Mutation_p.E1052D|MYBPC3_ENST00000399249.2_Missense_Mutation_p.E1053D	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													51	221					3.68337e-26	4.24002e-26	1	1	0	A	47355139	C	A	47355139	3	1	22	1	0	0	0	0	1	0	0	0	10061	680	24	2	689	2	MYBPC3	11	47355139	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58797	47355139	87651377	11630	13776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000256993.4_Missense_Mutation_p.G757S|MYBPC3_ENST00000399249.2_Missense_Mutation_p.G758S	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													41	209					0	0	1	0	0	T	47360107	C	T	47360107	3	4	22	1	0	0	0	0	1	0	0	0	10061	623	22	2	1600	2	MYBPC3	11	47360107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4968	47360107	87646409	11631	13777											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000256993.4_Silent_p.V437V|MYBPC3_ENST00000399249.2_Silent_p.V438V	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													17	94					0	0	1	0	0	T	47364609	C	T	47364609	2	4	22	1	0	0	0	0	0	0	0	1	10061	581	21	2		2	MYBPC3	11	47364609	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4502	47364609	87641907	11632	13778											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000256993.4_Missense_Mutation_p.V178M|MYBPC3_ENST00000399249.2_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													11	57					0	0	1	0	0	T	47371447	C	T	47371447	3	4	22	1	0	0	0	0	1	0	0	0	10061	536	19	1	3405	1	MYBPC3	11	47371447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6838	47371447	87635069	11633	13779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533030.1_Intron|SPI1_ENST00000227163.4_Missense_Mutation_p.R87H|SPI1_ENST00000533968.1_Missense_Mutation_p.R86H	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													25	212					0	0	1	0	0	T	47381477	C	T	47381477	3	4	22	1	0	0	0	0	1	0	0	0	15105	768	27	1	567	1	SPI1	11	47381477	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10030	47381477	87625039	11634	13780											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000529740.1_3'UTR|SLC39A13_ENST00000362021.4_Missense_Mutation_p.A190T|SLC39A13_ENST00000354884.4_Missense_Mutation_p.A190T			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													60	276					0	0	1	0	0	A	47434981	G	A	47434981	3	1	22	1	0	0	0	0	1	0	0	0	14671	1087	38	1	582	1	SLC39A13	11	47434981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53504	47434981	87571535	11635	13781											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	207					0	0	1	0	0	T	47611561	C	T	47611561	3	4	22	1	0	0	0	0	1	0	0	0	1978	893	31	1	191	1	C1QTNF4	11	47611561	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176580	47611561	87394955	11636	13782											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	168					1.47244e-24	1.6848e-24	1	1	0	T	47644304	G	T	47644304	4	4	22	1	0	0	0	0	0	1	0	0	9962	1024	36	2	145	2	MTCH2	11	47644304	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32743	47644304	87362212	11637	13783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	228					0	0	1	0	0	T	47657112	C	T	47657112	2	4	22	1	0	0	0	0	0	0	0	1	9962	912	32	2		2	MTCH2	11	47657112	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12808	47657112	87349404	11638	13784											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.P52H|AGBL2_ENST00000528244.1_Missense_Mutation_p.P52H|AGBL2_ENST00000357610.3_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													83	393					4.18771e-30	4.90557e-30	1	1	0	T	47732006	G	T	47732006	3	4	22	1	0	0	0	0	1	0	0	0	373	1000	35	2	2617	2	AGBL2	11	47732006	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74894	47732006	87274510	11639	13785											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.F20C|AGBL2_ENST00000528244.1_Missense_Mutation_p.F20C|AGBL2_ENST00000357610.3_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													79	280					0	0	1	0	0	C	47735874	A	C	47735874	3	2	22	1	0	0	0	0	1	0	0	0	373	14	1	3	2717	3	AGBL2	11	47735874	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3868	47735874	87270642	11640	13786											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	467					0	0	1	0	0	A	47772826	G	A	47772826	2	1	22	1	0	0	0	0	0	0	0	1	6000	1074	38	1		1	FNBP4	11	47772826	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36952	47772826	87233690	11641	13787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	334					0	0	1	0	0	G	47806599	A	G	47806599	3	3	22	1	0	0	0	0	1	0	0	0	10805	217	8	3	461	3	NUP160	11	47806599	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33773	47806599	87199917	11642	13788											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000530326.1_Missense_Mutation_p.Y660H|NUP160_ENST00000528071.1_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													55	260					0	0	1	0	0	G	47830003	A	G	47830003	3	3	22	1	0	0	0	0	1	0	0	0	10805	362	13	3	2066	3	NUP160	11	47830003	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23404	47830003	87176513	11643	13789											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000532747.1_3'UTR|NUP160_ENST00000530326.1_Missense_Mutation_p.H181Y|NUP160_ENST00000528071.1_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													57	234					0	0	1	0	0	A	47858498	G	A	47858498	3	1	22	1	0	0	0	0	1	0	0	0	10805	1319	46	2	3551	2	NUP160	11	47858498	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28495	47858498	87148018	11644	13790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	560					0	0	1	0	0	A	48149438	G	A	48149438	2	1	22	1	0	0	0	0	0	0	0	1	12856	933	33	2		2	PTPRJ	11	48149438	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	290940	48149438	86857078	11645	13791											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	219					0	0	1	0	0	G	48161167	A	G	48161167	3	3	22	1	0	0	0	0	1	0	0	0	12856	101	4	3	2333	3	PTPRJ	11	48161167	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11729	48161167	86845349	11646	13792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	527					5.03133e-54	6.27689e-54	1	1	0	T	48266694	G	T	48266694	3	4	22	1	0	0	0	0	1	0	0	0	11133	991	35	2	41	2	OR4X2	11	48266694	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105527	48266694	86739822	11647	13793											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													139	559					7.84169e-52	9.74292e-52	1	1	0	T	48267073	G	T	48267073	3	4	22	1	0	0	0	0	1	0	0	0	11133	971	34	2	420	2	OR4X2	11	48267073	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	379	48267073	86739443	11648	13794											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	582					1.31969e-37	1.58597e-37	1	1	0	T	48267277	G	T	48267277	3	4	22	1	0	0	0	0	1	0	0	0	11133	971	34	2	624	2	OR4X2	11	48267277	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	204	48267277	86739239	11649	13795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	405					0	0	1	0	0	A	48286112	G	A	48286112	3	1	22	1	0	0	0	0	1	0	0	0	11132	1203	42	2	702	2	OR4X1	11	48286112	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18835	48286112	86720404	11650	13796											
OR4C3	256144	broad.mit.edu	37	chr11	48346535	48346535	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtttctccttgtctttataGgcaatactgcacctgcattc	6	11	2	0	rs76964780	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48346535G>T	ENST00000319856.4	+	1	64	c.43G>T	c.(43-45)Ggc>Tgc	p.G15C		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	168					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						TGTCTTTATAGGCAATACTGC	0.383													105	549					2.13536e-36	2.55586e-36	1	1	0	T	48346535	G	T	48346535	3	4	22	1	0	0	0	0	1	0	0	0	11098	1000	35	2	45	2	OR4C3	11	48346535	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60423	48346535	86659981	11651	13797											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	430					1.5842e-08	1.65642e-08	1	1	0	T	48347003	G	T	48347003	3	4	22	1	0	0	0	0	1	0	0	0	11098	1000	35	2	513	2	OR4C3	11	48347003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	468	48347003	86659513	11652	13798											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356696.3_Missense_Mutation_p.S626I|FOLH1_ENST00000256999.2_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													67	296					3.78398e-24	4.31794e-24	1	1	0	A	49175791	C	A	49175791	3	1	22	1	0	0	0	0	1	0	0	0	6012	565	20	2	391	2	FOLH1	11	49175791	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	828788	49175791	85830725	11653	13799											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356696.3_Missense_Mutation_p.L306I|FOLH1_ENST00000256999.2_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													48	233					4.18559e-23	4.75231e-23	1	1	0	T	49204705	G	T	49204705	3	4	22	1	0	0	0	0	1	0	0	0	6012	991	35	2	1388	2	FOLH1	11	49204705	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28914	49204705	85801811	11654	13800											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001005270.1	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													28	1157					3.01185e-09	3.16585e-09	1	1	0	A	50003628	C	A	50003628	3	1	22	1	0	0	0	0	1	0	0	0	11094	797	28	2	523	2	OR4C12	11	50003628	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	798923	50003628	85002888	11655	13801											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	136					0	0	1	0	0	T	51411541	C	T	51411541	2	4	22	1	0	0	0	0	0	0	0	1	11091	523	19	1		1	OR4A5	11	51411541	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1407913	51411541	83594975	11656	13802											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	196					4.74835e-14	5.14536e-14	1	1	0	A	51411819	C	A	51411819	3	1	22	1	0	0	0	0	1	0	0	0	11091	681	24	2	374	2	OR4A5	11	51411819	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	278	51411819	83594697	11657	13803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	238					0	0	1	0	0	T	51411931	C	T	51411931	2	4	22	1	0	0	0	0	0	0	0	1	11091	523	19	1		1	OR4A5	11	51411931	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112	51411931	83594585	11658	13804											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	329					7.33394e-39	8.85091e-39	1	1	0	A	51515910	C	A	51515910	3	1	22	1	0	0	0	0	1	0	0	0	11099	739	26	2	631	2	OR4C46	11	51515910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103979	51515910	83490606	11659	13805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	256					0	0	1	0	0	T	51516165	C	T	51516165	3	4	22	1	0	0	0	0	1	0	0	0	11099	739	26	2	886	2	OR4C46	11	51516165	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255	51516165	83490351	11660	13806											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	268					0	0	1	0	0	C	55135508	A	C	55135508	3	2	22	1	0	0	0	0	1	0	0	0	11088	304	11	3	151	3	OR4A15	11	55135508	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3619343	55135508	79871008	11661	13807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													133	607					3.16155e-46	3.88191e-46	1	1	0	A	55135947	C	A	55135947	3	1	22	1	0	0	0	0	1	0	0	0	11088	912	32	2	590	2	OR4A15	11	55135947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	439	55135947	79870569	11662	13808											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													221	973					0	0	1	0	0	C	55136198	T	C	55136198	3	2	22	1	0	0	0	0	1	0	0	0	11088	1667	58	3	841	3	OR4A15	11	55136198	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	251	55136198	79870318	11663	13809											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	348					0	0	1	0	0	C	55371093	T	C	55371093	3	2	22	1	0	0	0	0	1	0	0	0	11093	1406	49	3	177	3	OR4C11	11	55371093	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	234895	55371093	79635423	11664	13810											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	426					0	0	1	0	0	A	55371242	G	A	55371242	3	1	22	1	0	0	0	0	1	0	0	0	11093	1319	46	2	326	2	OR4C11	11	55371242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149	55371242	79635274	11665	13811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	406					0	0	1	0	0	C	55371419	A	C	55371419	3	2	22	1	0	0	0	0	1	0	0	0	11093	43	2	3	503	3	OR4C11	11	55371419	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	177	55371419	79635097	11666	13812											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	543					0	0	1	0	0	C	55406127	A	C	55406127	3	2	22	1	0	0	0	0	1	0	0	0	11128	40	2	3	296	3	OR4P4	11	55406127	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34708	55406127	79600389	11667	13813											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	740					0	0	1	0	0	T	55418546	C	T	55418546	3	4	22	1	0	0	0	0	1	0	0	0	11131	623	22	2	169	2	OR4S2	11	55418546	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12419	55418546	79587970	11668	13814											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													160	786					1.34836e-70	1.71305e-70	1	1	0	A	55541337	C	A	55541337	3	1	22	1	0	0	0	0	1	0	0	0	11201	797	28	2	426	2	OR5D13	11	55541337	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122791	55541337	79465179	11669	13815											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	279					0	0	1	0	0	A	55587163	G	A	55587163	3	1	22	1	0	0	0	0	1	0	0	0	11204	942	33	2	60	2	OR5D18	11	55587163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45826	55587163	79419353	11670	13816											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	301					0	0	1	0	0	T	55587930	C	T	55587930	2	4	22	1	0	0	0	0	0	0	0	1	11204	668	24	2		2	OR5D18	11	55587930	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	767	55587930	79418586	11671	13817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			52	184					0	0	1	0	0	A	55595572	G	A	55595572	3	1	22	1	0	0	0	0	1	0	0	0	11218	942	33	2	880	2	OR5L2	11	55595572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7642	55595572	79410944	11672	13818											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													142	715					0	0	1	0	0	A	55606350	G	A	55606350	2	1	22	1	0	0	0	0	0	0	0	1	11203	1335	47	2		2	OR5D16	11	55606350	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10778	55606350	79400166	11673	13819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													158	613					0	0	1	0	0	G	55606577	T	G	55606577	3	3	22	1	0	0	0	0	1	0	0	0	11203	1841	64	3	352	3	OR5D16	11	55606577	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	227	55606577	79399939	11674	13820											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	191					0	0	1	0	0	C	55681230	A	C	55681230	3	2	22	1	0	0	0	0	1	0	0	0	11232	43	2	3	105	3	OR5W2	11	55681230	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	74653	55681230	79325286	11675	13821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	489					0	0	1	0	0	G	55761759	A	G	55761759	3	3	22	1	0	0	0	0	1	0	0	0	11205	72	3	3	604	3	OR5F1	11	55761759	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	80529	55761759	79244757	11676	13822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	369					0	0	1	0	0	T	55798285	C	T	55798285	3	4	22	1	0	0	0	0	1	0	0	0	11193	797	28	2	393	2	OR5AS1	11	55798285	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36526	55798285	79208231	11677	13823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	247					9.04072e-19	1.00536e-18	1	1	0	T	55798820	G	T	55798820	3	4	22	1	0	0	0	0	1	0	0	0	11193	1174	41	2	928	2	OR5AS1	11	55798820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	535	55798820	79207696	11678	13824											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			101	411					1.74666e-38	2.10562e-38	1	1	0	T	55873329	G	T	55873329	3	4	22	1	0	0	0	0	1	0	0	0	11285	942	33	2	813	2	OR8H2	11	55873329	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74509	55873329	79133187	11679	13825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													279	1326					0	0	1	0	0	C	55890184	T	C	55890184	2	2	22	1	0	0	0	0	0	0	0	1	11286	1731	60	3		3	OR8H3	11	55890184	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16855	55890184	79116332	11680	13826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	855					0	0	1	0	0	C	55890321	T	C	55890321	3	2	22	1	0	0	0	0	1	0	0	0	11286	1667	58	3	475	3	OR8H3	11	55890321	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	137	55890321	79116195	11681	13827											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	563					0	0	1	0	0	A	55905003	T	A	55905003	3	1	22	1	0	0	0	0	1	0	0	0	11289	1664	58	5	757	5	OR8J3	11	55905003	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14682	55905003	79101513	11682	13828											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	282					3.13743e-37	3.76563e-37	1	1	0	T	55927041	G	T	55927041	3	4	22	1	0	0	0	0	1	0	0	0	11292	933	33	2	173	2	OR8K5	11	55927041	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22038	55927041	79079475	11683	13829											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	341					0	0	1	0	0	G	55927351	T	G	55927351	3	3	22	1	0	0	0	0	1	0	0	0	11292	1812	63	3	483	3	OR8K5	11	55927351	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	310	55927351	79079165	11684	13830											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													150	865					0	0	1	0	0	A	56043515	G	A	56043515	3	1	22	1	0	0	0	0	1	0	0	0	11228	1087	38	1	403	1	OR5T1	11	56043515	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116164	56043515	78963001	11685	13831											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	508					0	0	1	0	0	T	56044027	C	T	56044027	3	4	22	1	0	0	0	0	1	0	0	0	11228	759	27	1	915	1	OR5T1	11	56044027	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	512	56044027	78962489	11686	13832											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	488					0	0	1	0	0	T	56127922	C	T	56127922	3	4	22	1	0	0	0	0	1	0	0	0	11288	797	28	2	202	2	OR8J1	11	56127922	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83895	56127922	78878594	11687	13833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	266					0	0	1	0	0	G	56185131	T	G	56185131	3	3	22	1	0	0	0	0	1	0	0	0	11227	1696	59	3	398	3	OR5R1	11	56185131	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	57209	56185131	78821385	11688	13834											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	285					0	0	1	0	0	T	56230077	C	T	56230077	2	4	22	1	0	0	0	0	0	0	0	1	11224	796	28	2		2	OR5M9	11	56230077	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44946	56230077	78776439	11689	13835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	277					0	0	1	0	0	C	56237249	T	C	56237249	3	2	22	1	0	0	0	0	1	0	0	0	11222	1464	51	3	200	3	OR5M3	11	56237249	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7172	56237249	78769267	11690	13836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	523					0	0	1	0	0	G	56237597	T	G	56237597	3	3	22	1	0	0	0	0	1	0	0	0	11222	1493	52	3	548	3	OR5M3	11	56237597	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	348	56237597	78768919	11691	13837											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	224					0	0	1	0	0	G	56310088	A	G	56310088	3	3	22	1	0	0	0	0	1	0	0	0	11221	275	10	3	274	3	OR5M11	11	56310088	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	72491	56310088	78696428	11692	13838											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	141					0	0	1	0	0	A	56310189	G	A	56310189	3	1	22	1	0	0	0	0	1	0	0	0	11221	1116	39	1	375	1	OR5M11	11	56310189	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101	56310189	78696327	11693	13839											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	113					0	0	1	0	0	A	56310287	G	A	56310287	2	1	22	1	0	0	0	0	0	0	0	1	11221	929	33	2		2	OR5M11	11	56310287	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98	56310287	78696229	11694	13840											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	339					0	0	1	0	0	G	56344805	A	G	56344805	2	3	22	1	0	0	0	0	0	0	0	1	11220	98	4	3		3	OR5M10	11	56344805	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34518	56344805	78661711	11695	13841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	377					0	0	1	0	0	T	56467921	C	T	56467921	3	4	22	1	0	0	0	0	1	0	0	0	11297	623	22	2	60	2	OR9G1	11	56467921	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123116	56467921	78538595	11696	13842											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	775					0	0	1	0	0	A	56756842	G	A	56756842	3	1	22	1	0	0	0	0	1	0	0	0	11189	1232	43	2	456	2	OR5AK2	11	56756842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	288921	56756842	78249674	11697	13843											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													251	1058					0	0	1	0	0	G	56756950	T	G	56756950	3	3	22	1	0	0	0	0	1	0	0	0	11189	1783	62	3	564	3	OR5AK2	11	56756950	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	108	56756950	78249566	11698	13844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	214					0	0	1	0	0	A	56949909	G	A	56949909	3	1	22	1	0	0	0	0	1	0	0	0	9056	1232	43	2	544	2	LRRC55	11	56949909	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192959	56949909	78056607	11699	13845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	567					0	0	1	0	0	A	56950046	G	A	56950046	3	1	22	1	0	0	0	0	1	0	0	0	9056	1232	43	2	681	2	LRRC55	11	56950046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137	56950046	78056470	11700	13846											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													137	613					0	0	1	0	0	A	57068363	G	A	57068363	2	1	22	1	0	0	0	0	0	0	0	1	16380	987	35	2		2	TNKS1BP1	11	57068363	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118317	57068363	77938153	11701	13847											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													355	1395					0	0	1	0	0	A	57076499	G	A	57076499	3	1	22	1	0	0	0	0	1	0	0	0	16380	942	33	2	1527	2	TNKS1BP1	11	57076499	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8136	57076499	77930017	11702	13848											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	302					0	0	1	0	0	G	57076904	A	G	57076904	3	3	22	1	0	0	0	0	1	0	0	0	16380	43	2	3	1932	3	TNKS1BP1	11	57076904	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	405	57076904	77929612	11703	13849											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													151	697					0	0	1	0	0	T	57077332	C	T	57077332	2	4	22	1	0	0	0	0	0	0	0	1	16380	564	20	2		2	TNKS1BP1	11	57077332	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	428	57077332	77929184	11704	13850											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	226					0	0	1	0	0	T	57098390	C	T	57098390	3	4	22	1	0	0	0	0	1	0	0	0	15250	623	22	2	926	2	SSRP1	11	57098390	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21058	57098390	77908126	11705	13851											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	429					0	0	1	0	0	T	57102123	C	T	57102123	5	4	22	1	0	0	0	0	0	0	1	0	15250	927	32	2	2135	2	SSRP1	11	57102123	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3733	57102123	77904393	11706	13852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525955.1_Missense_Mutation_p.R144Q|PRG2_ENST00000533605.1_Missense_Mutation_p.R133Q	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													168	718					0	0	1	0	0	T	57156117	C	T	57156117	3	4	22	1	0	0	0	0	1	0	0	0	12531	884	31	1	249	1	PRG2	11	57156117	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53994	57156117	77850399	11707	13853											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528098.1_5'UTR|SLC43A3_ENST00000352187.1_Silent_p.G25G|SLC43A3_ENST00000533524.1_Silent_p.G25G|SLC43A3_ENST00000395124.1_Silent_p.G25G|SLC43A3_ENST00000529554.1_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													131	529					0	0	1	0	0	A	57193571	G	A	57193571	2	1	22	1	0	0	0	0	0	0	0	1	14689	1074	38	1		1	SLC43A3	11	57193571	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37454	57193571	77812945	11708	13854											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000278407.4_Missense_Mutation_p.S246I|SERPING1_ENST00000340687.6_Missense_Mutation_p.S246I|SERPING1_ENST00000378324.2_Missense_Mutation_p.S194I|SERPING1_ENST00000378323.4_Missense_Mutation_p.S251I	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													126	598					1.33314e-76	1.70118e-76	1	1	0	T	57373534	G	T	57373534	3	4	22	1	0	0	0	0	1	0	0	0	14170	971	34	2	751	2	SERPING1	11	57373534	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	179963	57373534	77632982	11709	13855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													140	604					0	0	1	0	0	A	57457546	G	A	57457546	3	1	22	1	0	0	0	0	1	0	0	0	17676	1087	38	1	442	1	ZDHHC5	11	57457546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84012	57457546	77548970	11710	13856											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378312.4_Missense_Mutation_p.R114W|TMX2-CTNND1_ENST00000528395.1_Intron	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													86	444					0	0	1	0	0	T	57506148	C	T	57506148	3	4	22	1	0	0	0	0	1	0	0	0	16327	527	19	1	472	1	TMX2	11	57506148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48602	57506148	77500368	11711	13857											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415361.2_Silent_p.E177E|CTNND1_ENST00000534579.1_Silent_p.E224E|CTNND1_ENST00000530094.1_Silent_p.E177E|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000360682.6_Silent_p.E278E|CTNND1_ENST00000399039.4_Silent_p.E278E|CTNND1_ENST00000428599.2_Silent_p.E278E|CTNND1_ENST00000526357.1_Silent_p.E224E|CTNND1_ENST00000529986.1_Silent_p.E177E|CTNND1_ENST00000532245.1_Silent_p.E177E|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000361332.4_Silent_p.E278E|CTNND1_ENST00000529919.1_Silent_p.E278E|CTNND1_ENST00000532649.1_Silent_p.E224E|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000426142.2_Silent_p.E177E|CTNND1_ENST00000532787.1_Silent_p.E177E|CTNND1_ENST00000529873.1_Silent_p.E224E|CTNND1_ENST00000530748.1_Silent_p.E224E|CTNND1_ENST00000532463.1_Silent_p.E177E|CTNND1_ENST00000358694.6_Silent_p.E278E|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000399050.4_Silent_p.E278E|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000529526.1_Silent_p.E224E|CTNND1_ENST00000528232.1_Silent_p.E177E|CTNND1_ENST00000528621.1_Silent_p.E224E|CTNND1_ENST00000361796.4_Silent_p.E278E|CTNND1_ENST00000361391.6_Silent_p.E278E|CTNND1_ENST00000526938.1_Silent_p.E278E|CTNND1_ENST00000532844.1_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													162	723					0	0	1	0	0	A	57564342	G	A	57564342	2	1	22	1	0	0	0	0	0	0	0	1	4043	962	34	2		2	CTNND1	11	57564342	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58194	57564342	77442174	11712	13858											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	691					0	0	1	0	0	A	57799000	G	A	57799000	2	1	22	1	0	0	0	0	0	0	0	1	11255	1132	40	1		1	OR6Q1	11	57799000	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234658	57799000	77207516	11713	13859											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	405					0	0	1	0	0	G	57982253	A	G	57982253	3	3	22	1	0	0	0	0	1	0	0	0	11020	14	1	3	39	3	OR1S1	11	57982253	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	183253	57982253	77024263	11714	13860											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	462					0	0	1	0	0	G	57982274	A	G	57982274	3	3	22	1	0	0	0	0	1	0	0	0	11020	43	2	3	60	3	OR1S1	11	57982274	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21	57982274	77024242	11715	13861											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	177					0	0	1	0	0	C	57995968	T	C	57995968	3	2	22	1	0	0	0	0	1	0	0	0	10964	1406	49	3	583	3	OR10Q1	11	57995968	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13694	57995968	77010548	11716	13862											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	413					0	0	1	0	0	G	58170060	A	G	58170060	3	3	22	1	0	0	0	0	1	0	0	0	11199	43	2	3	123	3	OR5B3	11	58170060	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	174092	58170060	76836456	11717	13863											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	450					0	0	1	0	0	T	58170524	C	T	58170524	3	4	22	1	0	0	0	0	1	0	0	0	11199	768	27	1	587	1	OR5B3	11	58170524	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	464	58170524	76835992	11718	13864											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	272					0	0	1	0	0	A	58206921	G	A	58206921	3	1	22	1	0	0	0	0	1	0	0	0	11195	1203	42	2	244	2	OR5B12	11	58206921	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36397	58206921	76799595	11719	13865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	316					1.0442e-30	1.22599e-30	1	1	0	A	58207122	C	A	58207122	3	1	22	1	0	0	0	0	1	0	0	0	11195	913	32	2	445	2	OR5B12	11	58207122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	201	58207122	76799394	11720	13866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	203					0	0	1	0	0	T	58381795	C	T	58381795	4	4	22	1	0	0	0	0	0	1	0	0	17713	760	27	1	1115	1	ZFP91	11	58381795	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174673	58381795	76624721	11721	13867											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	203					0	0	1	0	0	A	58384868	G	A	58384868	3	1	22	1	0	0	0	0	1	0	0	0	17713	1087	38	1	1444	1	ZFP91	11	58384868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3073	58384868	76621648	11722	13868											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	546					1.36565e-18	1.51684e-18	1	1	0	T	58385162	G	T	58385162	3	4	22	1	0	0	0	0	1	0	0	0	17713	942	33	2	1738	2	ZFP91	11	58385162	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294	58385162	76621354	11723	13869											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.V216D	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													41	206					0	0	1	0	0	A	58723238	T	A	58723238	3	1	22	1	0	0	0	0	1	0	0	0	6522	1667	58	5	766	5	GLYATL1	11	58723238	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	338076	58723238	76283278	11724	13870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000531147.1_Missense_Mutation_p.T289A|FAM111A_ENST00000361723.3_Missense_Mutation_p.T289A|FAM111A_ENST00000533703.1_Missense_Mutation_p.T289A|FAM111A_ENST00000420244.1_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													52	266					0	0	1	0	0	G	58920006	A	G	58920006	3	3	22	1	0	0	0	0	1	0	0	0	5430	159	6	3	871	3	FAM111A	11	58920006	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	196768	58920006	76086510	11725	13871											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000531147.1_Silent_p.V512V|FAM111A_ENST00000361723.3_Silent_p.V512V|FAM111A_ENST00000533703.1_Silent_p.V512V|FAM111A_ENST00000420244.1_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													108	471					0	0	1	0	0	T	58920677	C	T	58920677	2	4	22	1	0	0	0	0	0	0	0	1	5430	842	30	2		2	FAM111A	11	58920677	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	671	58920677	76085839	11726	13872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	98					0	0	1	0	0	A	58949753	G	A	58949753	2	1	22	1	0	0	0	0	0	0	0	1	4823	933	33	2		2	DTX4	11	58949753	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29076	58949753	76056763	11727	13873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													157	591					0	0	1	0	0	A	58978424	G	A	58978424	3	1	22	1	0	0	0	0	1	0	0	0	9772	1086	38	1	239	1	MPEG1	11	58978424	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28671	58978424	76028092	11728	13874											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													178	699					0	0	1	0	0	A	58980176	G	A	58980176	3	1	22	1	0	0	0	0	1	0	0	0	9772	1086	38	1	1991	1	MPEG1	11	58980176	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1752	58980176	76026340	11729	13875											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	185					0	0	1	0	0	T	59189727	C	T	59189727	3	4	22	1	0	0	0	0	1	0	0	0	11187	681	24	2	276	2	OR5A2	11	59189727	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209551	59189727	75816789	11730	13876											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	1604					0	0	1	0	0	T	59211133	C	T	59211133	2	4	22	1	0	0	0	0	0	0	0	1	11186	796	28	2		2	OR5A1	11	59211133	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21406	59211133	75795383	11731	13877											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													185	777					0	0	1	0	0	T	59211369	C	T	59211369	3	4	22	1	0	0	0	0	1	0	0	0	11186	536	19	1	730	1	OR5A1	11	59211369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	236	59211369	75795147	11732	13878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	442					0	0	1	0	0	A	59225177	T	A	59225177	2	1	22	1	0	0	0	0	0	0	0	1	11106	1538	54	5		5	OR4D6	11	59225177	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13808	59225177	75781339	11733	13879											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													197	800					4.69411e-80	6.00157e-80	1	1	0	A	59271327	C	A	59271327	2	1	22	1	0	0	0	0	0	0	0	1	11103	668	24	2		2	OR4D11	11	59271327	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46150	59271327	75735189	11734	13880											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	406					4.63292e-17	5.10507e-17	1	1	0	A	59425059	C	A	59425059	3	1	22	1	0	0	0	0	1	0	0	0	11522	797	28	2	1807	2	PATL1	11	59425059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153732	59425059	75581457	11735	13881											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437946.2_Silent_p.K3K|STX3_ENST00000529177.1_Silent_p.K100K|STX3_ENST00000300150.7_Silent_p.K69K|STX3_ENST00000337979.4_Silent_p.K100K			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													5	199					0	0	1	0	0	A	59558002	G	A	59558002	2	1	22	1	0	0	0	0	0	0	0	1	15402	962	34	2		2	STX3	11	59558002	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132943	59558002	75448514	11736	13882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437946.2_Silent_p.E96E|STX3_ENST00000529177.1_Silent_p.E193E|STX3_ENST00000300150.7_Silent_p.E162E|STX3_ENST00000337979.4_Silent_p.E193E			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													25	241					0	0	1	0	0	A	59560891	G	A	59560891	2	1	22	1	0	0	0	0	0	0	0	1	15402	933	33	2		2	STX3	11	59560891	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2889	59560891	75445625	11737	13883											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437946.2_Missense_Mutation_p.I111T|STX3_ENST00000529177.1_Missense_Mutation_p.I208T|STX3_ENST00000300150.7_Missense_Mutation_p.I177T|STX3_ENST00000337979.4_Missense_Mutation_p.I208T			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													43	225					0	0	1	0	0	C	59560935	T	C	59560935	3	2	22	1	0	0	0	0	1	0	0	0	15402	1435	50	3	653	3	STX3	11	59560935	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44	59560935	75445581	11738	13884											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													138	631					0	0	1	0	0	T	59620480	C	T	59620480	3	4	22	1	0	0	0	0	1	0	0	0	15766	922	32	2	35	2	TCN1	11	59620480	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59545	59620480	75386036	11739	13885											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	671					2.40265e-35	2.8676e-35	1	1	0	T	59631526	G	T	59631526	3	4	22	1	0	0	0	0	1	0	0	0	15766	1000	35	2	1220	2	TCN1	11	59631526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11046	59631526	75374990	11740	13886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	354					0	0	1	0	0	T	59857209	C	T	59857209	3	4	22	1	0	0	0	0	1	0	0	0	9909	913	32	2	107	2	MS4A2	11	59857209	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	225683	59857209	75149307	11741	13887											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	212					0	0	1	0	0	A	59857283	G	A	59857283	3	1	22	1	0	0	0	0	1	0	0	0	9909	1175	41	2	181	2	MS4A2	11	59857283	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74	59857283	75149233	11742	13888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	566					0	0	1	0	0	G	59857875	A	G	59857875	3	3	22	1	0	0	0	0	1	0	0	0	9909	449	16	3	263	3	MS4A2	11	59857875	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	592	59857875	75148641	11743	13889											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533023.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000426738.2_Missense_Mutation_p.P5S|MS4A6A_ENST00000529054.1_Missense_Mutation_p.P33S|MS4A6A_ENST00000420732.2_Missense_Mutation_p.P5S|MS4A6A_ENST00000532169.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000530839.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000412309.2_Missense_Mutation_p.P33S|MS4A6A_ENST00000323961.3_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													133	672					0	0	1	0	0	A	59949188	G	A	59949188	3	1	22	1	0	0	0	0	1	0	0	0	9913	1261	44	2	784	2	MS4A6A	11	59949188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91313	59949188	75057328	11744	13890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	515					0	0	1	0	0	A	60105331	G	A	60105331	3	1	22	1	0	0	0	0	1	0	0	0	9914	1059	37	1	271	1	MS4A6E	11	60105331	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156143	60105331	74901185	11745	13891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000300184.3_Missense_Mutation_p.G9R|MS4A7_ENST00000534016.1_Missense_Mutation_p.G9R|MS4A7_ENST00000530234.2_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													80	323					0	0	1	0	0	A	60150639	G	A	60150639	3	1	22	1	0	0	0	0	1	0	0	0	9915	1232	43	2	27	2	MS4A7	11	60150639	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45308	60150639	74855877	11746	13892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	293					0	0	1	0	0	A	60184368	G	A	60184368	3	1	22	1	0	0	0	0	1	0	0	0	9907	942	33	2	1945	2	MS4A14	11	60184368	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33729	60184368	74822148	11747	13893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528313.1_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000532073.1_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000534503.1_3'UTR	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													15	323					0	0	1	0	0	T	60229917	C	T	60229917	4	4	22	1	0	0	0	0	0	1	0	0	9903	711	25	2	72	2	MS4A1	11	60229917	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45549	60229917	74776599	11748	13894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528313.1_Missense_Mutation_p.V45I|MS4A1_ENST00000345732.4_Missense_Mutation_p.V212I|MS4A1_ENST00000532073.1_Missense_Mutation_p.V199I|MS4A1_ENST00000389939.2_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													95	395					0	0	1	0	0	A	60234492	G	A	60234492	3	1	22	1	0	0	0	0	1	0	0	0	9903	1145	40	1	652	1	MS4A1	11	60234492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4575	60234492	74772024	11749	13895											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	291					0	0	1	0	0	T	60271185	C	T	60271185	2	4	22	1	0	0	0	0	0	0	0	1	9905	738	26	2		2	MS4A12	11	60271185	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36693	60271185	74735331	11750	13896											
MS4A15	219995	broad.mit.edu	37	chr11	60531345	60531346	+	Frame_Shift_Ins	INS	-	-	G													gcagtttgaggagccaccgcINStgggggcacagacaccaagg					rs1032939	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60531345_60531346insG	ENST00000405633.3	+	2	218_219	c.139_140insG	c.(139-141)gggfs	p.G47fs	MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Frame_Shift_Ins_p.G47fs	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	47			L -> R (in dbSNP:rs1032939).			integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						GGAGCCACCGCTGGGGGCACAG	0.604													72	373	---	---	---	---						G	60531346	-	G	60531345	7	5	22	1	0	1	1	0	0	0	0	0	9908	796	28	0	141	0	MS4A15	11	60531345	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	260160	60531345	74475171	11751	13897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-804A23.4_ENST00000538705.1_RNA|CCDC86_ENST00000545580.1_Missense_Mutation_p.I104V	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													11	363					0	0	1	0	0	G	60617793	A	G	60617793	3	3	22	1	0	0	0	0	1	0	0	0	2881	333	12	3	1092	3	CCDC86	11	60617793	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	86448	60617793	74388723	11752	13898											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	336					0	0	1	0	0	T	60689496	C	T	60689496	2	4	22	1	0	0	0	0	0	0	0	1	16085	610	22	2		2	TMEM109	11	60689496	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71703	60689496	74317020	11753	13899											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	478					0	0	1	0	0	T	60696112	C	T	60696112	2	4	22	1	0	0	0	0	0	0	0	1	16105	755	27	1		1	TMEM132A	11	60696112	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6616	60696112	74310404	11754	13900											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	423					4.45923e-32	5.26057e-32	1	1	0	T	60696127	G	T	60696127	3	4	22	1	0	0	0	0	1	0	0	0	16105	962	34	2	575	2	TMEM132A	11	60696127	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	60696127	74310389	11755	13901											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60697983A>G	ENST00000005286.4	+	5	1021	c.866_splice	c.e5-1	p.I290_splice	TMEM132A_ENST00000453848.2_Splice_Site_p.I290_splice	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													113	1331					0	0	1	0	0	G	60697983	A	G	60697983	5	3	22	1	0	0	0	0	0	0	1	0	16105	347	12	3	886	3	TMEM132A	11	60697983	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1856	60697983	74308533	11756	13902											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	160					0	0	1	0	0	T	60705372	C	T	60705372	3	4	22	1	0	0	0	0	1	0	0	0	14455	652	23	1	192	1	SLC15A3	11	60705372	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7389	60705372	74301144	11757	13903											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	375					0	0	1	0	0	C	60886791	T	C	60886791	2	2	22	1	0	0	0	0	0	0	0	1	3043	1625	57	3		3	CD5	11	60886791	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	181419	60886791	74119725	11758	13904											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	227					0	0	1	0	0	C	60892563	T	C	60892563	3	2	22	1	0	0	0	0	1	0	0	0	3043	1551	54	3	1373	3	CD5	11	60892563	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5772	60892563	74113953	11759	13905											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	70					0	0	1	0	0	T	60899816	C	T	60899816	3	4	22	1	0	0	0	0	1	0	0	0	17267	565	20	2	527	2	VPS37C	11	60899816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7253	60899816	74106700	11760	13906											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	187					3.99206e-14	4.32713e-14	1	1	0	A	61026582	C	A	61026582	3	1	22	1	0	0	0	0	1	0	0	0	17305	912	32	2	438	2	VWCE	11	61026582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126766	61026582	73979934	11761	13907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	301					0	0	1	0	0	A	61042028	G	A	61042028	2	1	22	1	0	0	0	0	0	0	0	1	17305	1140	40	1		1	VWCE	11	61042028	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15446	61042028	73964488	11762	13908											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	192					3.33393e-15	3.63836e-15	1	1	0	A	61048181	C	A	61048181	3	1	22	1	0	0	0	0	1	0	0	0	17305	680	24	2	1676	2	VWCE	11	61048181	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6153	61048181	73958335	11763	13909											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450997.2_Silent_p.T389T|DDB1_ENST00000538470.1_Silent_p.T125T	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)					14	323					0	0	1	0	0	A	61068386	G	A	61068386	2	1	22	1	0	0	0	0	0	0	0	1	4346	1103	39	1		1	DDB1	11	61068386	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20205	61068386	73938130	11764	13910	88	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450997.2_Silent_p.S386S|DDB1_ENST00000538470.1_Silent_p.S122S	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)					10	315					6.42651e-13	6.92124e-13	1	1	0	T	61068395	G	T	61068395	2	4	22	1	0	0	0	0	0	0	0	1	4346	987	35	2		2	DDB1	11	61068395	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9	61068395	73938121	11765	13911	88	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					62	698					0	0	1	0	0	A	61079518	G	A	61079518	3	1	22	1	0	0	0	0	1	0	0	0	4346	1261	44	2	1358	2	DDB1	11	61079518	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11123	61079518	73926998	11766	13912											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					56	263					0	0	1	0	0	T	61080983	C	T	61080983	3	4	22	1	0	0	0	0	1	0	0	0	4346	739	26	2	1413	2	DDB1	11	61080983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1465	61080983	73925533	11767	13913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448745.1_Silent_p.D156D|CPSF7_ENST00000541963.1_3'UTR	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													112	476					0	0	1	0	0	A	61187476	G	A	61187476	2	1	22	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	11768	13914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535826.1_Missense_Mutation_p.R435Q|SYT7_ENST00000539008.1_Missense_Mutation_p.R599Q|SYT7_ENST00000542836.1_Missense_Mutation_p.R360Q|SYT7_ENST00000540677.1_Missense_Mutation_p.R391Q|SYT7_ENST00000542670.1_Missense_Mutation_p.R524Q	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													85	396					0	0	1	0	0	T	61290707	C	T	61290707	3	4	22	1	0	0	0	0	1	0	0	0	15536	652	23	1	272	1	SYT7	11	61290707	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103231	61290707	73715809	11769	13915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540831.1_5'UTR|SYT7_ENST00000535826.1_Missense_Mutation_p.T272A|SYT7_ENST00000539008.1_Missense_Mutation_p.T436A|SYT7_ENST00000542836.1_Missense_Mutation_p.T197A|SYT7_ENST00000540677.1_Missense_Mutation_p.T228A|SYT7_ENST00000542670.1_Missense_Mutation_p.T361A	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													40	513					0	0	1	0	0	C	61295552	T	C	61295552	3	2	22	1	0	0	0	0	1	0	0	0	15536	1696	59	3	774	3	SYT7	11	61295552	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4845	61295552	73710964	11770	13916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535826.1_Missense_Mutation_p.T31N|SYT7_ENST00000539008.1_Missense_Mutation_p.T31N|SYT7_ENST00000542836.1_Missense_Mutation_p.T31N|SYT7_ENST00000540677.1_Missense_Mutation_p.T31N|SYT7_ENST00000542670.1_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													25	143					6.07407e-21	6.82693e-21	1	1	0	T	61323619	G	T	61323619	3	4	22	1	0	0	0	0	1	0	0	0	15536	1029	36	2	1151	2	SYT7	11	61323619	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28067	61323619	73682897	11771	13917											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	476					0	0	1	0	0	C	61490390	T	C	61490390	3	2	22	1	0	0	0	0	1	0	0	0	4250	1522	53	3	377	3	DAGLA	11	61490390	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	166771	61490390	73516126	11772	13918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	355					0	0	1	0	0	A	61498802	G	A	61498802	3	1	22	1	0	0	0	0	1	0	0	0	4250	1087	38	1	893	1	DAGLA	11	61498802	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8412	61498802	73507714	11773	13919											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	120					0	0	1	0	0	T	61503244	C	T	61503244	3	4	22	1	0	0	0	0	1	0	0	0	4250	768	27	1	1288	1	DAGLA	11	61503244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4442	61503244	73503272	11774	13920											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	228					0	0	1	0	0	C	61507115	A	C	61507115	3	2	22	1	0	0	0	0	1	0	0	0	4250	159	6	3	1897	3	DAGLA	11	61507115	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3871	61507115	73499401	11775	13921											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													145	643					1.51433e-70	1.92372e-70	1	1	0	A	61580775	C	A	61580775	3	1	22	1	0	0	0	0	1	0	0	0	5396	826	29	2	1123	2	FADS1	11	61580775	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73660	61580775	73425741	11776	13922											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000278829.2_Missense_Mutation_p.V327D|FADS3_ENST00000527697.1_Missense_Mutation_p.V203D			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													14	55					0	0	1	0	0	T	61644341	A	T	61644341	3	4	22	1	0	0	0	0	1	0	0	0	5398	275	10	5	377	5	FADS3	11	61644341	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	63566	61644341	73362175	11777	13923											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000278829.2_Missense_Mutation_p.Y266H|FADS3_ENST00000527697.1_Missense_Mutation_p.Y142H			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													122	580					0	0	1	0	0	G	61645639	A	G	61645639	3	3	22	1	0	0	0	0	1	0	0	0	5398	391	14	3	569	3	FADS3	11	61645639	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1298	61645639	73360877	11778	13924											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000278829.2_Missense_Mutation_p.V240I|FADS3_ENST00000527697.1_Missense_Mutation_p.V116I			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													18	422					0	0	1	0	0	T	61646013	C	T	61646013	3	4	22	1	0	0	0	0	1	0	0	0	5398	536	19	1	651	1	FADS3	11	61646013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	374	61646013	73360503	11779	13925											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000301774.9_Intron|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000378042.3_Missense_Mutation_p.P247L|BEST1_ENST00000526988.1_Missense_Mutation_p.R296W|BEST1_ENST00000378043.4_Missense_Mutation_p.P334L|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_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													15	115					0	0	1	0	0	T	61727416	C	T	61727416	3	4	22	1	0	0	0	0	1	0	0	0	1402	652	23	1	1031	1	BEST1	11	61727416	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81403	61727416	73279100	11780	13926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000301774.9_Missense_Mutation_p.P183H|BEST1_ENST00000378042.3_Missense_Mutation_p.P468H|BEST1_ENST00000378043.4_Missense_Mutation_p.P555H|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_3'UTR	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													9	349					0.00829132	0.00834067	1	1	0	A	61730290	C	A	61730290	3	1	22	1	0	0	0	0	1	0	0	0	1402	681	24	2	1698	2	BEST1	11	61730290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2874	61730290	73276226	11781	13927											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	354					2.17888e-05	2.22852e-05	1	1	0	A	61908436	C	A	61908436	3	1	22	1	0	0	0	0	1	0	0	0	7777	797	28	2	1547	2	INCENP	11	61908436	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178146	61908436	73098080	11782	13928											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	362					0	0	1	0	0	T	61917621	C	T	61917621	2	4	22	1	0	0	0	0	0	0	0	1	7777	767	27	1		1	INCENP	11	61917621	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9185	61917621	73088895	11783	13929											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	236					0	0	1	0	0	A	61919402	G	A	61919402	3	1	22	1	0	0	0	0	1	0	0	0	7777	1203	42	2	2781	2	INCENP	11	61919402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1781	61919402	73087114	11784	13930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	511					0	0	1	0	0	A	61977935	G	A	61977935	3	1	22	1	0	0	0	0	1	0	0	0	13952	1058	37	1	112	1	SCGB2A1	11	61977935	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58533	61977935	73028581	11785	13931											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													277	1151					0	0	1	0	0	T	62064997	C	T	62064997	2	4	22	1	0	0	0	0	0	0	0	1	13951	796	28	2		2	SCGB1D4	11	62064997	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87062	62064997	72941519	11786	13932											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	265					0	0	1	0	0	A	62284885	G	A	62284885	2	1	22	1	0	0	0	0	0	0	0	1	411	933	33	2		2	AHNAK	11	62284885	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219888	62284885	72721631	11787	13933											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													199	764					0	0	1	0	0	C	62285051	A	C	62285051	3	2	22	1	0	0	0	0	1	0	0	0	411	14	1	3	954	3	AHNAK	11	62285051	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	166	62285051	72721465	11788	13934											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	385					0	0	1	0	0	G	62285755	A	G	62285755	2	3	22	1	0	0	0	0	0	0	0	1	411	146	6	3		3	AHNAK	11	62285755	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	704	62285755	72720761	11789	13935											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	363					0	0	1	0	0	A	62285818	G	A	62285818	2	1	22	1	0	0	0	0	0	0	0	1	411	1136	40	1		1	AHNAK	11	62285818	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63	62285818	72720698	11790	13936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	490					0	0	1	0	0	G	62286943	A	G	62286943	2	3	22	1	0	0	0	0	0	0	0	1	411	127	5	3		3	AHNAK	11	62286943	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1125	62286943	72719573	11791	13937											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													248	1297					0	0	1	0	0	T	62287933	C	T	62287933	3	4	22	1	0	0	0	0	1	0	0	0	411	710	25	2	3836	2	AHNAK	11	62287933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	990	62287933	72718583	11792	13938											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													301	1202					1.53719e-90	1.97347e-90	1	1	0	T	62290929	G	T	62290929	3	4	22	1	0	0	0	0	1	0	0	0	411	962	34	2	6832	2	AHNAK	11	62290929	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2996	62290929	72715587	11793	13939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													164	568					7.52437e-61	9.46778e-61	1	1	0	T	62291340	G	T	62291340	3	4	22	1	0	0	0	0	1	0	0	0	411	942	33	2	7243	2	AHNAK	11	62291340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	411	62291340	72715176	11794	13940											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	196					1.07234e-20	1.20343e-20	1	1	0	T	62291895	G	T	62291895	3	4	22	1	0	0	0	0	1	0	0	0	411	1232	43	2	7798	2	AHNAK	11	62291895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	555	62291895	72714621	11795	13941											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													233	1048					0	0	1	0	0	A	62293900	G	A	62293900	2	1	22	1	0	0	0	0	0	0	0	1	411	1335	47	2		2	AHNAK	11	62293900	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2005	62293900	72712616	11796	13942											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													388	1818					0	0	1	0	0	A	62295806	G	A	62295806	3	1	22	1	0	0	0	0	1	0	0	0	411	1232	43	2	11709	2	AHNAK	11	62295806	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1906	62295806	72710710	11797	13943											
AHNAK	79026	broad.mit.edu	37	chr11	62296060	62296060	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccctccaattttggcacCgacacatccacatccccttt	3	18	1	0	rs601430		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62296060C>T	ENST00000378024.4	-	5	6103	c.5829G>A	c.(5827-5829)tcG>tcA	p.S1943S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1943					nervous system development	nucleus	protein binding	p.S1943S(1)		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)				ATTTTGGCACCGACACATCCA	0.512													313	1272					0	0	1	0	0	T	62296060	C	T	62296060	2	4	22	1	0	0	0	0	0	0	0	1	411	639	23	1		1	AHNAK	11	62296060	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	254	62296060	72710456	11798	13944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													179	1010					1.591e-50	1.97159e-50	1	1	0	T	62299043	G	T	62299043	3	4	22	1	0	0	0	0	1	0	0	0	411	1000	35	2	14946	2	AHNAK	11	62299043	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2983	62299043	72707473	11799	13945											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													181	982					0	0	1	0	0	G	62299103	A	G	62299103	3	3	22	1	0	0	0	0	1	0	0	0	411	188	7	3	15006	3	AHNAK	11	62299103	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60	62299103	72707413	11800	13946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													176	820					0	0	1	0	0	A	62299523	G	A	62299523	3	1	22	1	0	0	0	0	1	0	0	0	411	971	34	2	15426	2	AHNAK	11	62299523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	420	62299523	72706993	11801	13947											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	161					0	0	1	0	0	A	62301544	G	A	62301544	2	1	22	1	0	0	0	0	0	0	0	1	411	1078	38	1		1	AHNAK	11	62301544	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2021	62301544	72704972	11802	13948											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	303					0	0	1	0	0	T	62303437	C	T	62303437	3	4	22	1	0	0	0	0	1	0	0	0	411	768	27	1	17666	1	AHNAK	11	62303437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1893	62303437	72703079	11803	13949											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	230					1.19451e-25	1.37202e-25	1	1	0	A	62327638	C	A	62327638	3	1	22	1	0	0	0	0	1	0	0	0	4954	681	24	2	263	2	EEF1G	11	62327638	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24201	62327638	72678878	11804	13950											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	71					2.39187e-15	2.61288e-15	1	1	0	T	62334931	G	T	62334931	3	4	22	1	0	0	0	0	1	0	0	0	4954	1203	42	2	741	2	EEF1G	11	62334931	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7293	62334931	72671585	11805	13951											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	2193					0	0	1	0	0	T	62343093	C	T	62343093	3	4	22	1	0	0	0	0	1	0	0	0	16842	507	18	2	530	2	TUT1	11	62343093	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8162	62343093	72663423	11806	13952											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438258.1_5'UTR|EML3_ENST00000278845.4_Silent_p.G543G|EML3_ENST00000531557.1_Silent_p.G325G|EML3_ENST00000494176.2_Silent_p.G514G|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													175	982					0	0	1	0	0	T	62373565	C	T	62373565	2	4	22	1	0	0	0	0	0	0	0	1	5126	726	26	2		2	EML3	11	62373565	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30472	62373565	72632951	11807	13953											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438258.1_5'UTR|EML3_ENST00000278845.4_Missense_Mutation_p.R537H|EML3_ENST00000531557.1_Missense_Mutation_p.R319H|EML3_ENST00000494176.2_Missense_Mutation_p.R508H|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													167	772					0	0	1	0	0	T	62373584	C	T	62373584	3	4	22	1	0	0	0	0	1	0	0	0	5126	768	27	1	1123	1	EML3	11	62373584	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	62373584	72632932	11808	13954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000531557.1_Missense_Mutation_p.A109T|EML3_ENST00000494176.2_Missense_Mutation_p.A298T|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													82	427					0	0	1	0	0	T	62376231	C	T	62376231	3	4	22	1	0	0	0	0	1	0	0	0	5126	797	28	2	1774	2	EML3	11	62376231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2647	62376231	72630285	11809	13955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	322					0	0	1	0	0	A	62384603	G	A	62384603	2	1	22	1	0	0	0	0	0	0	0	1	1253	1045	37	1		1	B3GAT3	11	62384603	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8372	62384603	72621913	11810	13956											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	80					0	0	1	0	0	A	62388054	G	A	62388054	3	1	22	1	0	0	0	0	1	0	0	0	1253	1029	36	2	851	2	B3GAT3	11	62388054	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3451	62388054	72618462	11811	13957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356638.3_Missense_Mutation_p.S916P|GANAB_ENST00000534779.1_Missense_Mutation_p.S824P|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													36	251					0	0	1	0	0	G	62393376	A	G	62393376	3	3	22	1	0	0	0	0	1	0	0	0	6273	275	10	3	92	3	GANAB	11	62393376	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5322	62393376	72613140	11812	13958											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534422.1_5'UTR|GANAB_ENST00000356638.3_Missense_Mutation_p.K237N|GANAB_ENST00000534779.1_Missense_Mutation_p.K145N|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													125	475					2.82925e-58	3.54705e-58	1	1	0	A	62400663	C	A	62400663	3	1	22	1	0	0	0	0	1	0	0	0	6273	796	28	2	2195	2	GANAB	11	62400663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7287	62400663	72605853	11813	13959											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													143	641					0	0	1	0	0	A	62416125	G	A	62416125	3	1	22	1	0	0	0	0	1	0	0	0	7825	1087	38	1	1636	1	INTS5	11	62416125	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15462	62416125	72590391	11814	13960											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	226					0	0	1	0	0	T	62417038	C	T	62417038	3	4	22	1	0	0	0	0	1	0	0	0	7825	768	27	1	2549	1	INTS5	11	62417038	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	913	62417038	72589478	11815	13961											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	175					6.48837e-15	7.06796e-15	1	1	0	A	62417472	C	A	62417472	5	1	22	1	0	0	0	0	0	0	1	0	7825	579	20	2	2983	2	INTS5	11	62417472	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	434	62417472	72589044	11816	13962											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000529640.1_Silent_p.A228A|UBXN1_ENST00000301935.5_Silent_p.A232A	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													51	493					0	0	1	0	0	A	62444433	G	A	62444433	2	1	22	1	0	0	0	0	0	0	0	1	16971	1219	43	2		2	UBXN1	11	62444433	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26961	62444433	72562083	11817	13963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000421906.1_Missense_Mutation_p.V7I|BSCL2_ENST00000407022.3_Missense_Mutation_p.V7I|BSCL2_ENST00000405837.1_Missense_Mutation_p.V71I|BSCL2_ENST00000537604.1_5'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.V71I|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Missense_Mutation_p.V7I|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													38	133					0	0	1	0	0	T	62472966	C	T	62472966	3	4	22	1	0	0	0	0	1	0	0	0	1529	565	20	2	1217	2	BSCL2	11	62472966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28533	62472966	72533550	11818	13964											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-831H9.16_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													96	411					1.19196e-48	1.47188e-48	1	1	0	T	62482812	G	T	62482812	2	4	22	1	0	0	0	0	0	0	0	1	7316	1124	39	4		4	HNRNPUL2	11	62482812	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9846	62482812	72523704	11819	13965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-831H9.16_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													25	626					1.74197e-06	1.79736e-06	1	1	0	A	62491420	C	A	62491420	3	1	22	1	0	0	0	0	1	0	0	0	7316	680	24	2	1574	2	HNRNPUL2	11	62491420	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8608	62491420	72515096	11820	13966											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	199					0	0	1	0	0	A	62545792	G	A	62545792	3	1	22	1	0	0	0	0	1	0	0	0	15588	1203	42	2	435	2	TAF6L	11	62545792	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54372	62545792	72460724	11821	13967											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	462					0	0	1	0	0	T	62549675	C	T	62549675	3	4	22	1	0	0	0	0	1	0	0	0	15588	739	26	2	723	2	TAF6L	11	62549675	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3883	62549675	72456841	11822	13968											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	483					0	0	1	0	0	T	62549768	C	T	62549768	3	4	22	1	0	0	0	0	1	0	0	0	15588	759	27	1	816	1	TAF6L	11	62549768	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93	62549768	72456748	11823	13969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000307366.7_3'UTR	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													67	232					0	0	1	0	0	A	62557503	G	A	62557503	3	1	22	1	0	0	0	0	1	0	0	0	16157	1087	38	1	662	1	TMEM179B	11	62557503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7735	62557503	72449013	11824	13970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000529106.1_Silent_p.A213A|WDR74_ENST00000525752.1_Silent_p.A156A|WDR74_ENST00000311713.7_Silent_p.A213A|WDR74_ENST00000278856.4_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													8	216					0	0	1	0	0	C	62601979	T	C	62601979	2	2	22	1	0	0	0	0	0	0	0	1	17384	1451	51	3		3	WDR74	11	62601979	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44476	62601979	72404537	11825	13971											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360421.4_Missense_Mutation_p.S129F|SLC22A6_ENST00000421062.2_Missense_Mutation_p.S129F|SLC22A6_ENST00000458333.2_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													16	109					0	0	1	0	0	A	62751503	G	A	62751503	3	1	22	1	0	0	0	0	1	0	0	0	14513	942	33	2	1341	2	SLC22A6	11	62751503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149524	62751503	72255013	11826	13972											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535878.1_Silent_p.I354I|SLC22A8_ENST00000311438.8_Silent_p.I477I|SLC22A8_ENST00000545207.1_Silent_p.I386I|SLC22A8_ENST00000430500.2_Silent_p.I477I	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													96	408					4.69036e-40	5.68068e-40	1	1	0	T	62760994	G	T	62760994	2	4	22	1	0	0	0	0	0	0	0	1	14515	932	33	2		2	SLC22A8	11	62760994	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9491	62760994	72245522	11827	13973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001140201.1|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													346	1492					0	0	1	0	0	T	63257730	C	T	63257730	3	4	22	1	0	0	0	0	1	0	0	0	7392	913	32	2	605	2	HRASLS5	11	63257730	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	496736	63257730	71748786	11828	13974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63283034G>A	ENST00000415491.2	+	7	1144		c.e7-1		LGALS12_ENST00000394618.3_Splice_Site|LGALS12_ENST00000425950.2_Splice_Site|LGALS12_ENST00000340246.5_Splice_Site|LGALS12_ENST00000255684.5_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													38	335					0	0	1	0	0	A	63283034	G	A	63283034	5	1	22	1	0	0	0	0	0	0	1	0	8778	1043	36	2	746	2	LGALS12	11	63283034	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25304	63283034	71723482	11829	13975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354445.2_Missense_Mutation_p.P8S|RARRES3_ENST00000255688.3_Missense_Mutation_p.P8S|RARRES3_ENST00000537871.1_Intron			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													10	373					0	0	1	0	0	T	63307000	C	T	63307000	3	4	22	1	0	0	0	0	1	0	0	0	13109	739	26	2	28	2	RARRES3	11	63307000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23966	63307000	71699516	11830	13976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354445.2_Missense_Mutation_p.H35N|RARRES3_ENST00000255688.3_Missense_Mutation_p.H35N|RARRES3_ENST00000537871.1_Intron			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													85	320					1.52589e-26	1.75947e-26	1	1	0	A	63307081	C	A	63307081	3	1	22	1	0	0	0	0	1	0	0	0	13109	594	21	2	109	2	RARRES3	11	63307081	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81	63307081	71699435	11831	13977											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354445.2_Missense_Mutation_p.R64C|RARRES3_ENST00000255688.3_Missense_Mutation_p.R64C|RARRES3_ENST00000537871.1_3'UTR			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													89	718					0	0	1	0	0	T	63312164	C	T	63312164	3	4	22	1	0	0	0	0	1	0	0	0	13109	768	27	1	200	1	RARRES3	11	63312164	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5083	63312164	71694352	11832	13978											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354445.2_Silent_p.A96A|RARRES3_ENST00000255688.3_Silent_p.A96A|RARRES3_ENST00000537871.1_3'UTR			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													100	480					0	0	1	0	0	A	63312262	G	A	63312262	2	1	22	1	0	0	0	0	0	0	0	1	13109	1045	37	1		1	RARRES3	11	63312262	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98	63312262	71694254	11833	13979											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													186	845					0	0	1	0	0	T	63327622	C	T	63327622	3	4	22	1	0	0	0	0	1	0	0	0	7391	768	27	1	447	1	HRASLS2	11	63327622	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15360	63327622	71678894	11834	13980											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537981.1_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.S312Y|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.S405Y|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000341307.2_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													65	313					3.57465e-26	4.11543e-26	1	1	0	A	63487245	C	A	63487245	3	1	22	1	0	0	0	0	1	0	0	0	13779	913	32	2	1281	2	RTN3	11	63487245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159623	63487245	71519271	11835	13981											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537981.1_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.P491S|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.P584S|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000341307.2_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													88	428					0	0	1	0	0	T	63487781	C	T	63487781	3	4	22	1	0	0	0	0	1	0	0	0	13779	739	26	2	1817	2	RTN3	11	63487781	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	536	63487781	71518735	11836	13982											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537981.1_Missense_Mutation_p.Q108H|RTN3_ENST00000540798.1_Missense_Mutation_p.Q792H|RTN3_ENST00000354497.4_Missense_Mutation_p.Q108H|RTN3_ENST00000339997.4_Missense_Mutation_p.Q885H|RTN3_ENST00000356000.3_Missense_Mutation_p.Q127H|RTN3_ENST00000341307.2_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													20	76					8.34094e-07	8.61956e-07	1	1	0	T	63517644	G	T	63517644	3	4	22	1	0	0	0	0	1	0	0	0	13779	933	33	2	2726	2	RTN3	11	63517644	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29863	63517644	71488872	11837	13983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	168					0	0	1	0	0	T	63585407	C	T	63585407	2	4	22	1	0	0	0	0	0	0	0	1	1672	767	27	1		1	C11orf84	11	63585407	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67763	63585407	71421109	11838	13984											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	337					0	0	1	0	0	A	63586402	G	A	63586402	3	1	22	1	0	0	0	0	1	0	0	0	1672	942	33	2	880	2	C11orf84	11	63586402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	995	63586402	71420114	11839	13985											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000315032.8_Missense_Mutation_p.V238A|MARK2_ENST00000508192.1_Missense_Mutation_p.V238A|MARK2_ENST00000413835.2_Missense_Mutation_p.V238A|MARK2_ENST00000350490.7_Missense_Mutation_p.V238A|MARK2_ENST00000425897.2_Missense_Mutation_p.V205A|MARK2_ENST00000513765.2_Missense_Mutation_p.V205A|MARK2_ENST00000377809.4_Missense_Mutation_p.V238A|MARK2_ENST00000408948.3_Missense_Mutation_p.V205A|MARK2_ENST00000361128.5_Missense_Mutation_p.V238A|MARK2_ENST00000377810.3_Missense_Mutation_p.V205A|MARK2_ENST00000502399.3_Missense_Mutation_p.V238A|MARK2_ENST00000509502.2_Missense_Mutation_p.V205A	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													181	792					0	0	1	0	0	C	63667527	T	C	63667527	3	2	22	1	0	0	0	0	1	0	0	0	9363	1725	60	3	743	3	MARK2	11	63667527	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81125	63667527	71338989	11840	13986											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000315032.8_Missense_Mutation_p.R758W|MARK2_ENST00000508192.1_Missense_Mutation_p.R703W|MARK2_ENST00000413835.2_Missense_Mutation_p.R713W|MARK2_ENST00000350490.7_Missense_Mutation_p.R688W|MARK2_ENST00000425897.2_Missense_Mutation_p.R678W|MARK2_ENST00000513765.2_Missense_Mutation_p.R734W|MARK2_ENST00000377809.4_Missense_Mutation_p.R752W|MARK2_ENST00000408948.3_Missense_Mutation_p.R670W|MARK2_ENST00000361128.5_Missense_Mutation_p.R698W|MARK2_ENST00000377810.3_Missense_Mutation_p.R670W|MARK2_ENST00000502399.3_Missense_Mutation_p.R757W|MARK2_ENST00000509502.2_Missense_Mutation_p.R724W	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													76	424					0	0	1	0	0	T	63676641	C	T	63676641	3	4	22	1	0	0	0	0	1	0	0	0	9363	759	27	1	2373	1	MARK2	11	63676641	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9114	63676641	71329875	11841	13987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000456907.2_Missense_Mutation_p.R85Q|NAA40_ENST00000536939.1_3'UTR|NAA40_ENST00000539656.1_Intron|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													56	274					0	0	1	0	0	A	63720001	G	A	63720001	3	1	22	1	0	0	0	0	1	0	0	0	10173	1116	39	1	392	1	NAA40	11	63720001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43360	63720001	71286515	11842	13988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000456907.2_Missense_Mutation_p.S186F|NAA40_ENST00000539656.1_Missense_Mutation_p.S113F|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													57	233					0	0	1	0	0	T	63721914	C	T	63721914	3	4	22	1	0	0	0	0	1	0	0	0	10173	855	30	2	707	2	NAA40	11	63721914	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1913	63721914	71284602	11843	13989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63782725G>A	ENST00000255681.6	-	4	612	c.547_splice	c.e4+1	p.G182_splice		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													21	70					0	0	1	0	0	A	63782725	G	A	63782725	5	1	22	1	0	0	0	0	0	0	1	0	9191	1101	38	1	459	1	MACROD1	11	63782725	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60811	63782725	71223791	11844	13990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	105					8.4185e-14	9.11178e-14	1	1	0	A	63883842	C	A	63883842	3	1	22	1	0	0	0	0	1	0	0	0	5971	796	28	2	105	2	FLRT1	11	63883842	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101117	63883842	71122674	11845	13991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	186					0	0	1	0	0	T	63884115	C	T	63884115	3	4	22	1	0	0	0	0	1	0	0	0	5971	739	26	2	378	2	FLRT1	11	63884115	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	273	63884115	71122401	11846	13992											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	114					0	0	1	0	0	T	63884481	C	T	63884481	4	4	22	1	0	0	0	0	0	1	0	0	5971	479	17	2	744	2	FLRT1	11	63884481	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	366	63884481	71122035	11847	13993											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543847.1_Missense_Mutation_p.A81T|STIP1_ENST00000538945.1_Intron|STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000305218.4_Missense_Mutation_p.A81T			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													136	574					0	0	1	0	0	A	63961682	G	A	63961682	3	1	22	1	0	0	0	0	1	0	0	0	15341	971	34	2	251	2	STIP1	11	63961682	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77201	63961682	71044834	11848	13994											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	542					0	0	1	0	0	T	63978299	C	T	63978299	3	4	22	1	0	0	0	0	1	0	0	0	5852	739	26	2	383	2	FERMT3	11	63978299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16617	63978299	71028217	11849	13995											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	87					2.44723e-14	2.65813e-14	1	1	0	T	63987987	G	T	63987987	3	4	22	1	0	0	0	0	1	0	0	0	5852	971	34	2	1445	2	FERMT3	11	63987987	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9688	63987987	71018529	11850	13996											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													181	750					1.06352e-88	1.36425e-88	1	1	0	A	64021957	C	A	64021957	3	1	22	1	0	0	0	0	1	0	0	0	12077	623	22	2	176	2	PLCB3	11	64021957	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33970	64021957	70984559	11851	13997											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	161					0	0	1	0	0	G	64022436	A	G	64022436	3	3	22	1	0	0	0	0	1	0	0	0	12077	275	10	3	327	3	PLCB3	11	64022436	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	479	64022436	70984080	11852	13998											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544785.1_Missense_Mutation_p.G62E|BAD_ENST00000309032.3_Missense_Mutation_p.G62E|BAD_ENST00000394531.3_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													64	267					0	0	1	0	0	T	64051656	C	T	64051656	3	4	22	1	0	0	0	0	1	0	0	0	1283	855	30	2	333	2	BAD	11	64051656	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29220	64051656	70954860	11853	13999											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438980.2_Missense_Mutation_p.R73C|GPR137_ENST00000377702.4_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													238	1158					0	0	1	0	0	T	64054213	C	T	64054213	3	4	22	1	0	0	0	0	1	0	0	0	6685	768	27	1	401	1	GPR137	11	64054213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2557	64054213	70952303	11854	14000											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438980.2_Silent_p.N114N|GPR137_ENST00000377702.4_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													23	654					0	0	1	0	0	T	64054338	C	T	64054338	2	4	22	1	0	0	0	0	0	0	0	1	6685	506	18	2		2	GPR137	11	64054338	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125	64054338	70952178	11855	14001											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438980.2_Silent_p.Y253Y|GPR137_ENST00000377702.4_Intron	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													99	483					0	0	1	0	0	T	64055662	C	T	64055662	2	4	22	1	0	0	0	0	0	0	0	1	6685	547	19	1		1	GPR137	11	64055662	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1324	64055662	70950854	11856	14002											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000411458.1_Missense_Mutation_p.R376Q|GPR137_ENST00000313074.3_Missense_Mutation_p.R318Q|GPR137_ENST00000539851.1_Intron|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													14	71					0	0	1	0	0	A	64056115	G	A	64056115	3	1	22	1	0	0	0	0	1	0	0	0	6685	1116	39	1	1157	1	GPR137	11	64056115	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	453	64056115	70950401	11857	14003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538767.1_Missense_Mutation_p.G75S|KCNK4_ENST00000422670.2_Missense_Mutation_p.R141Q|KCNK4_ENST00000394525.2_Missense_Mutation_p.R141Q|KCNK4_ENST00000539651.1_3'UTR|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													18	348					0	0	1	0	0	A	64064699	G	A	64064699	3	1	22	1	0	0	0	0	1	0	0	0	8112	1116	39	1	432	1	KCNK4	11	64064699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8584	64064699	70941817	11858	14004											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000000442.6_Missense_Mutation_p.A192T|ESRRA_ENST00000406310.1_Splice_Site			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													47	194					0	0	1	0	0	A	64082215	G	A	64082215	3	1	22	1	0	0	0	0	1	0	0	0	5288	971	34	2	588	2	ESRRA	11	64082215	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17516	64082215	70924301	11859	14005											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000000442.6_Silent_p.D256D|ESRRA_ENST00000406310.1_Silent_p.D255D			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													6	75					0	0	1	0	0	T	64082498	C	T	64082498	2	4	22	1	0	0	0	0	0	0	0	1	5288	506	18	2		2	ESRRA	11	64082498	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	283	64082498	70924018	11860	14006											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	177					0	0	1	0	0	C	64109494	A	C	64109494	3	2	22	1	0	0	0	0	1	0	0	0	2884	246	9	3	734	3	CCDC88B	11	64109494	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26996	64109494	70897022	11861	14007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	255					7.88023e-25	9.02574e-25	1	1	0	T	64111522	G	T	64111522	3	4	22	1	0	0	0	0	1	0	0	0	2884	991	35	2	1563	2	CCDC88B	11	64111522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2028	64111522	70894994	11862	14008											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	454					4.03997e-35	4.81766e-35	1	1	0	T	64111581	G	T	64111581	3	4	22	1	0	0	0	0	1	0	0	0	2884	1000	35	2	1622	2	CCDC88B	11	64111581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59	64111581	70894935	11863	14009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	254					0	0	1	0	0	A	64132779	G	A	64132779	3	1	22	1	0	0	0	0	1	0	0	0	13705	1058	37	1	947	1	RPS6KA4	11	64132779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21198	64132779	70873737	11864	14010											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	92					0	0	1	0	0	A	64137088	G	A	64137088	2	1	22	1	0	0	0	0	0	0	0	1	13705	1103	39	1		1	RPS6KA4	11	64137088	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4309	64137088	70869428	11865	14011											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	138					0	0	1	0	0	A	64138899	G	A	64138899	3	1	22	1	0	0	0	0	1	0	0	0	13705	1145	40	1	2332	1	RPS6KA4	11	64138899	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1811	64138899	70867617	11866	14012											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377567.2_Missense_Mutation_p.R89H|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R89H|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R89H|SLC22A12_ENST00000473690.1_5'UTR	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													48	244					0	0	1	0	0	A	64359294	G	A	64359294	3	1	22	1	0	0	0	0	1	0	0	0	14498	1087	38	1	268	1	SLC22A12	11	64359294	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	220395	64359294	70647222	11867	14013											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409571.1_Missense_Mutation_p.A1687V|NRXN2_ENST00000377551.1_Missense_Mutation_p.A1694V|NRXN2_ENST00000301894.2_Missense_Mutation_p.A648V|NRXN2_ENST00000377559.3_Missense_Mutation_p.A1624V	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													33	182					0	0	1	0	0	A	64374726	G	A	64374726	3	1	22	1	0	0	0	0	1	0	0	0	10714	971	34	2	61	2	NRXN2	11	64374726	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15432	64374726	70631790	11868	14014											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000265459.6_Intron|NRXN2_ENST00000409571.1_Intron|NRXN2_ENST00000377551.1_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						CGGTTGATGGCGATGGGCACG	0.721													21	106					0	0	1	0	0	T	64410050	C	T	64410050	3	4	22	1	0	0	0	0	1	0	0	0	10714	768	27	1	1802	1	NRXN2	11	64410050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35324	64410050	70596466	11869	14015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409571.1_Missense_Mutation_p.D1027N|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377551.1_Missense_Mutation_p.D1034N|NRXN2_ENST00000377559.3_Missense_Mutation_p.D994N	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													21	752					0	0	1	0	0	T	64417929	C	T	64417929	3	4	22	1	0	0	0	0	1	0	0	0	10714	884	31	1	2343	1	NRXN2	11	64417929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7879	64417929	70588587	11870	14016											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354024.3_Missense_Mutation_p.A282T|RASGRP2_ENST00000394432.3_Missense_Mutation_p.A282T|RASGRP2_ENST00000377497.3_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													37	109					0	0	1	0	0	T	64504476	C	T	64504476	3	4	22	1	0	0	0	0	1	0	0	0	13127	739	26	2	1017	2	RASGRP2	11	64504476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86547	64504476	70502040	11871	14017											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	289					2.50483e-33	2.96817e-33	1	1	0	A	64518890	C	A	64518890	3	1	22	1	0	0	0	0	1	0	0	0	12914	797	28	2	672	2	PYGM	11	64518890	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14414	64518890	70487626	11872	14018											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64536602C>T	ENST00000377390.3	-	8	1117		c.e8-1		SF1_ENST00000377394.3_Splice_Site|SF1_ENST00000377387.1_Splice_Site|SF1_ENST00000334944.5_Splice_Site|SF1_ENST00000489544.1_Splice_Site|SF1_ENST00000433274.2_Splice_Site|SF1_ENST00000422298.2_Splice_Site|SF1_ENST00000227503.9_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													94	374					0	0	1	0	0	T	64536602	C	T	64536602	5	4	22	1	0	0	0	0	0	0	1	0	14199	695	24	2	1302	2	SF1	11	64536602	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17712	64536602	70469914	11873	14019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377394.3_Missense_Mutation_p.R97Q|SF1_ENST00000377387.1_Missense_Mutation_p.R222Q|SF1_ENST00000334944.5_Missense_Mutation_p.R97Q|SF1_ENST00000433274.2_Missense_Mutation_p.R71Q|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000227503.9_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													55	589					0	0	1	0	0	T	64537827	C	T	64537827	3	4	22	1	0	0	0	0	1	0	0	0	14199	884	31	1	1807	1	SF1	11	64537827	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1225	64537827	70468689	11874	14020											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	265					0	0	1	0	0	A	64563851	G	A	64563851	3	1	22	1	0	0	0	0	1	0	0	0	9310	1319	46	2	853	2	MAP4K2	11	64563851	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26024	64563851	70442665	11875	14021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000468062.1_5'UTR|MAP4K2_ENST00000377350.3_Missense_Mutation_p.V197I	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													123	576					0	0	1	0	0	T	64568445	C	T	64568445	3	4	22	1	0	0	0	0	1	0	0	0	9310	536	19	1	1969	1	MAP4K2	11	64568445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4594	64568445	70438071	11876	14022											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443283.1_Missense_Mutation_p.P435L|MEN1_ENST00000315422.4_Missense_Mutation_p.P430L|MEN1_ENST00000312049.6_Missense_Mutation_p.P430L|MEN1_ENST00000377313.1_Missense_Mutation_p.P435L|MEN1_ENST00000394374.2_Missense_Mutation_p.P435L|MEN1_ENST00000394376.1_Missense_Mutation_p.P435L|MEN1_ENST00000377316.2_Intron|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377321.1_Missense_Mutation_p.P395L|MEN1_ENST00000377326.3_Missense_Mutation_p.P430L	NM_130803.2	NP_570715.1	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				47	210					0	0	1	0	0	A	64572567	G	A	64572567	3	1	22	1	0	0	0	0	1	0	0	0	9522	1000	35	2	551	2	MEN1	11	64572567	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4122	64572567	70433949	11877	14023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443283.1_Missense_Mutation_p.R337H|MEN1_ENST00000315422.4_Missense_Mutation_p.R332H|MEN1_ENST00000312049.6_Missense_Mutation_p.R332H|MEN1_ENST00000377313.1_Missense_Mutation_p.R337H|MEN1_ENST00000394374.2_Missense_Mutation_p.R337H|MEN1_ENST00000394376.1_Missense_Mutation_p.R337H|MEN1_ENST00000377316.2_Missense_Mutation_p.R332H|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377321.1_Missense_Mutation_p.R297H|MEN1_ENST00000377326.3_Missense_Mutation_p.R332H	NM_130803.2	NP_570715.1	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	152	554					0	0	1	0	0	T	64573758	C	T	64573758	3	4	22	1	0	0	0	0	1	0	0	0	9522	768	27	1	853	1	MEN1	11	64573758	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1191	64573758	70432758	11878	14024											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443283.1_Missense_Mutation_p.T215I|MEN1_ENST00000315422.4_Missense_Mutation_p.T210I|MEN1_ENST00000312049.6_Missense_Mutation_p.T210I|MEN1_ENST00000377313.1_Missense_Mutation_p.T215I|MEN1_ENST00000394374.2_Missense_Mutation_p.T215I|MEN1_ENST00000394376.1_Missense_Mutation_p.T215I|MEN1_ENST00000377316.2_Missense_Mutation_p.T210I|MEN1_ENST00000377321.1_Intron|MEN1_ENST00000377326.3_Missense_Mutation_p.T210I	NM_130803.2	NP_570715.1	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				9	273					0	0	1	0	0	A	64575388	G	A	64575388	3	1	22	1	0	0	0	0	1	0	0	0	9522	1377	48	2	1235	2	MEN1	11	64575388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1630	64575388	70431128	11879	14025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	579					1.67942e-08	1.75525e-08	1	1	0	T	64594559	G	T	64594559	3	4	22	1	0	0	0	0	1	0	0	0	3096	1000	35	2	319	2	CDC42BPG	11	64594559	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19171	64594559	70411957	11880	14026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	37	147					0	0	1	0	0	A	64599088	G	A	64599088	4	1	22	1	0	0	0	0	0	1	0	0	3096	1328	46	2	1502	2	CDC42BPG	11	64599088	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4529	64599088	70407428	11881	14027											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													350	1573					1.52288e-82	1.94913e-82	1	1	0	A	64602876	C	A	64602876	3	1	22	1	0	0	0	0	1	0	0	0	3096	680	24	2	2847	2	CDC42BPG	11	64602876	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3788	64602876	70403640	11882	14028											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	375					0	0	1	0	0	T	64606559	C	T	64606559	2	4	22	1	0	0	0	0	0	0	0	1	3096	755	27	1		1	CDC42BPG	11	64606559	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3683	64606559	70399957	11883	14029											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	207					0	0	1	0	0	T	64607741	C	T	64607741	5	4	22	1	0	0	0	0	0	0	1	0	3096	579	20	2	4355	2	CDC42BPG	11	64607741	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1182	64607741	70398775	11884	14030											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_006795.2	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													12	39					0	0	1	0	0	T	64641903	C	T	64641903	2	4	22	1	0	0	0	0	0	0	0	1	5003	842	30	2		2	EHD1	11	64641903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34162	64641903	70364613	11885	14031											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	323					0	0	1	0	0	A	64662641	G	A	64662641	3	1	22	1	0	0	0	0	1	0	0	0	1092	1059	37	1	199	1	ATG2A	11	64662641	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20738	64662641	70343875	11886	14032											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	504					0	0	1	0	0	A	64669563	G	A	64669563	2	1	22	1	0	0	0	0	0	0	0	1	1092	1045	37	1		1	ATG2A	11	64669563	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6922	64669563	70336953	11887	14033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	438					8.34767e-46	1.02437e-45	1	1	0	A	64695588	C	A	64695588	2	1	22	1	0	0	0	0	0	0	0	1	12442	668	24	2		2	PPP2R5B	11	64695588	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26025	64695588	70310928	11888	14034											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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													119	482					0	0	1	0	0	T	64803116	C	T	64803116	2	4	22	1	0	0	0	0	0	0	0	1	14940	883	31	1		1	SNX15	11	64803116	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107528	64803116	70203400	11889	14035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356632.3_Silent_p.Y102Y|NAALADL1_ENST00000340252.4_Silent_p.Y102Y|NAALADL1_ENST00000355721.3_Silent_p.Y102Y|NAALADL1_ENST00000339885.2_Silent_p.Y102Y|NAALADL1_ENST00000355369.2_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													91	308					0	0	1	0	0	A	64825602	G	A	64825602	2	1	22	1	0	0	0	0	0	0	0	1	10177	1140	40	1		1	NAALADL1	11	64825602	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22486	64825602	70180914	11890	14036											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	297					0	0	1	0	0	T	64846905	C	T	64846905	3	4	22	1	0	0	0	0	1	0	0	0	3111	739	26	2	168	2	CDCA5	11	64846905	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21303	64846905	70159611	11891	14037											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	162					0	0	1	0	0	A	64847051	G	A	64847051	3	1	22	1	0	0	0	0	1	0	0	0	3111	1261	44	2	314	2	CDCA5	11	64847051	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146	64847051	70159465	11892	14038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													134	722					0	0	1	0	0	T	64855532	C	T	64855532	2	4	22	1	0	0	0	0	0	0	0	1	17714	767	27	1		1	ZFPL1	11	64855532	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8481	64855532	70150984	11893	14039											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	198					0	0	1	0	0	A	64884293	G	A	64884293	3	1	22	1	0	0	0	0	1	0	0	0	18249	1116	39	1	382	1	ZNHIT2	11	64884293	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28761	64884293	70122223	11894	14040											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527548.1_Missense_Mutation_p.A7T|FAU_ENST00000279259.3_Missense_Mutation_p.A7T|FAU_ENST00000434372.2_Missense_Mutation_p.A7T|FAU_ENST00000529639.1_Missense_Mutation_p.A7T|FAU_ENST00000525297.1_Missense_Mutation_p.A7T|FAU_ENST00000531743.1_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													34	206					0	0	1	0	0	T	64889267	C	T	64889267	3	4	22	1	0	0	0	0	1	0	0	0	5727	768	27	1	398	1	FAU	11	64889267	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4974	64889267	70117249	11895	14041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	117					0	0	1	0	0	T	64895881	C	T	64895881	2	4	22	1	0	0	0	0	0	0	0	1	15544	912	32	2		2	SYVN1	11	64895881	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6614	64895881	70110635	11896	14042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	410					4.96729e-08	5.17613e-08	1	1	0	T	64896065	G	T	64896065	3	4	22	1	0	0	0	0	1	0	0	0	15544	1232	43	2	144	2	SYVN1	11	64896065	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	184	64896065	70110451	11897	14043											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533129.1_Missense_Mutation_p.A422T|CAPN1_ENST00000279247.6_Missense_Mutation_p.A422T|CAPN1_ENST00000533820.1_Missense_Mutation_p.A422T|CAPN1_ENST00000524773.1_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)	78	283					0	0	1	0	0	A	64972252	G	A	64972252	3	1	22	1	0	0	0	0	1	0	0	0	2640	1087	38	1	1302	1	CAPN1	11	64972252	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76187	64972252	70034264	11898	14044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	41					0	0	1	0	0	A	64981653	G	A	64981653	1	1	22	0	1	0	0	0	0	0	0	0	14507	1087	38	1		1	SLC22A20	11	64981653	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9401	64981653	70024863	11899	14045											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534785.1_3'UTR|POLA2_ENST00000541089.1_Missense_Mutation_p.I294T	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													67	324					0	0	1	0	0	C	65063055	T	C	65063055	3	2	22	1	0	0	0	0	1	0	0	0	12236	1435	50	3	1567	3	POLA2	11	65063055	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81402	65063055	69943461	11900	14046											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533419.1_Missense_Mutation_p.R94W|CDC42EP2_ENST00000279249.2_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													44	398					0	0	1	0	0	T	65088649	C	T	65088649	3	4	22	1	0	0	0	0	1	0	0	0	3098	759	27	1	282	1	CDC42EP2	11	65088649	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25594	65088649	69917867	11901	14047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Silent_p.G252G|DPF2_ENST00000532264.1_3'UTR	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													60	255					0	0	1	0	0	T	65113213	C	T	65113213	2	4	22	1	0	0	0	0	0	0	0	1	4744	755	27	1		1	DPF2	11	65113213	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24564	65113213	69893303	11902	14048											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	210					0	0	1	0	0	T	65113742	C	T	65113742	3	4	22	1	0	0	0	0	1	0	0	0	4744	507	18	2	963	2	DPF2	11	65113742	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	529	65113742	69892774	11903	14049											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	209					0	0	1	0	0	A	65113775	G	A	65113775	3	1	22	1	0	0	0	0	1	0	0	0	4744	1087	38	1	996	1	DPF2	11	65113775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33	65113775	69892741	11904	14050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398802.1_Silent_p.D223D|SLC25A45_ENST00000360662.3_Silent_p.D199D|SLC25A45_ENST00000527174.1_Silent_p.D223D|SLC25A45_ENST00000294187.6_Silent_p.D181D|SLC25A45_ENST00000534028.1_Silent_p.D199D|SLC25A45_ENST00000526432.1_Silent_p.D161D|SLC25A45_ENST00000377152.2_Silent_p.D119D	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													18	438					0	0	1	0	0	A	65144076	G	A	65144076	2	1	22	1	0	0	0	0	0	0	0	1	14565	1368	48	2		2	SLC25A45	11	65144076	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30301	65144076	69862440	11905	14051											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	111					0	0	1	0	0	A	65156957	G	A	65156957	3	1	22	1	0	0	0	0	1	0	0	0	6091	1087	38	1	217	1	FRMD8	11	65156957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12881	65156957	69849559	11906	14052											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	259					0	0	1	0	0	T	65172384	C	T	65172384	3	4	22	1	0	0	0	0	1	0	0	0	6091	768	27	1	1155	1	FRMD8	11	65172384	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15427	65172384	69834132	11907	14053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420247.2_Missense_Mutation_p.V385F|SCYL1_ENST00000270176.5_Missense_Mutation_p.V385F|SCYL1_ENST00000279270.6_Missense_Mutation_p.V385F|SCYL1_ENST00000527009.1_Missense_Mutation_p.V242F|SCYL1_ENST00000533862.1_Missense_Mutation_p.V385F|SCYL1_ENST00000525364.1_Missense_Mutation_p.V385F|SCYL1_ENST00000527630.1_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													42	194					8.48111e-28	9.83746e-28	1	1	0	T	65300199	G	T	65300199	3	4	22	1	0	0	0	0	1	0	0	0	14001	1029	36	2	1187	2	SCYL1	11	65300199	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127815	65300199	69706317	11908	14054											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420247.2_Silent_p.C446C|SCYL1_ENST00000270176.5_Silent_p.C446C|SCYL1_ENST00000279270.6_Silent_p.C446C|SCYL1_ENST00000527009.1_Silent_p.C303C|SCYL1_ENST00000533862.1_Silent_p.C446C|SCYL1_ENST00000525364.1_Silent_p.C446C|SCYL1_ENST00000527630.1_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													77	509					0	0	1	0	0	T	65302805	C	T	65302805	2	4	22	1	0	0	0	0	0	0	0	1	14001	718	25	2		2	SCYL1	11	65302805	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2606	65302805	69703711	11909	14055											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420247.2_Silent_p.D629D|SCYL1_ENST00000270176.5_Silent_p.D646D|SCYL1_ENST00000279270.6_Silent_p.D646D|SCYL1_ENST00000527009.1_Silent_p.D503D|SCYL1_ENST00000533862.1_Silent_p.D646D|SCYL1_ENST00000525364.1_Silent_p.D646D|SCYL1_ENST00000527630.1_Intron			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													34	231					0	0	1	0	0	T	65304578	C	T	65304578	2	4	22	1	0	0	0	0	0	0	0	1	14001	535	19	1		1	SCYL1	11	65304578	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1773	65304578	69701938	11910	14056											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000322147.4_Silent_p.T978T|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000532932.1_Silent_p.T408T|LTBP3_ENST00000536982.1_Silent_p.T604T	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)	18	102					6.33239e-15	6.89894e-15	1	1	0	T	65308385	G	T	65308385	2	4	22	1	0	0	0	0	0	0	0	1	9120	1219	43	2		2	LTBP3	11	65308385	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3807	65308385	69698131	11911	14057											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	87					0	0	1	0	0	A	65392409	G	A	65392409	2	1	22	1	0	0	0	0	0	0	0	1	11640	1074	38	1		1	PCNXL3	11	65392409	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84024	65392409	69614107	11912	14058											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													176	746					0	0	1	0	0	A	65394998	G	A	65394998	3	1	22	1	0	0	0	0	1	0	0	0	11640	1087	38	1	3733	1	PCNXL3	11	65394998	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2589	65394998	69611518	11913	14059											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527525.1_Silent_p.L111L|SIPA1_ENST00000394227.3_Silent_p.L111L|SIPA1_ENST00000534313.1_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													26	740					0	0	1	0	0	C	65408725	T	C	65408725	2	2	22	1	0	0	0	0	0	0	0	1	14383	1799	63	3		3	SIPA1	11	65408725	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13727	65408725	69597791	11914	14060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527525.1_Silent_p.L169L|SIPA1_ENST00000394227.3_Silent_p.L169L|SIPA1_ENST00000534313.1_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													46	401					0	0	1	0	0	T	65408899	C	T	65408899	2	4	22	1	0	0	0	0	0	0	0	1	14383	871	31	1		1	SIPA1	11	65408899	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174	65408899	69597617	11915	14061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527525.1_Missense_Mutation_p.A181V|SIPA1_ENST00000394227.3_Missense_Mutation_p.A181V|SIPA1_ENST00000534313.1_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													56	282					0	0	1	0	0	T	65408934	C	T	65408934	3	4	22	1	0	0	0	0	1	0	0	0	14383	710	25	2	544	2	SIPA1	11	65408934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	65408934	69597582	11916	14062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527525.1_Silent_p.A192A|SIPA1_ENST00000394227.3_Silent_p.A192A|SIPA1_ENST00000534313.1_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													54	214					0	0	1	0	0	A	65408968	G	A	65408968	2	1	22	1	0	0	0	0	0	0	0	1	14383	1103	39	1		1	SIPA1	11	65408968	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	65408968	69597548	11917	14063											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527525.1_Missense_Mutation_p.S715I|SIPA1_ENST00000394227.3_Missense_Mutation_p.S715I|SIPA1_ENST00000534313.1_Missense_Mutation_p.S817I	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													10	48					0.00829132	0.00834067	1	1	0	T	65416876	G	T	65416876	3	4	22	1	0	0	0	0	1	0	0	0	14383	1029	36	2	2484	2	SIPA1	11	65416876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7908	65416876	69589640	11918	14064											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527525.1_Missense_Mutation_p.T727N|SIPA1_ENST00000394227.3_Missense_Mutation_p.T727N|SIPA1_ENST00000534313.1_Missense_Mutation_p.T829N	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													16	68					1.5739e-10	1.67034e-10	1	1	0	A	65416912	C	A	65416912	3	1	22	1	0	0	0	0	1	0	0	0	14383	565	20	2	2520	2	SIPA1	11	65416912	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36	65416912	69589604	11919	14065											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	263					1.38909e-20	1.55765e-20	1	1	0	T	65423197	G	T	65423197	3	4	22	1	0	0	0	0	1	0	0	0	13268	971	34	2	668	2	RELA	11	65423197	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6285	65423197	69583319	11920	14066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534650.1_5'UTR|KAT5_ENST00000530446.1_Missense_Mutation_p.S171L|KAT5_ENST00000377046.3_Missense_Mutation_p.S190L|KAT5_ENST00000352980.4_Missense_Mutation_p.S138L	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													14	66					0	0	1	0	0	T	65481297	C	T	65481297	3	4	22	1	0	0	0	0	1	0	0	0	8027	893	31	1	690	1	KAT5	11	65481297	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58100	65481297	69525219	11921	14067											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	123					0	0	1	0	0	A	65562523	G	A	65562523	3	1	22	1	0	0	0	0	1	0	0	0	11373	1116	39	1	529	1	OVOL1	11	65562523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81226	65562523	69443993	11922	14068											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	553					0	0	1	0	0	A	65620368	G	A	65620368	3	1	22	1	0	0	0	0	1	0	0	0	14956	1116	39	1	1143	1	SNX32	11	65620368	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57845	65620368	69386148	11923	14069											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					26	271					0	0	1	0	0	C	65630597	A	C	65630597	3	2	22	1	0	0	0	0	1	0	0	0	10036	304	11	3	693	3	MUS81	11	65630597	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10229	65630597	69375919	11924	14070											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					54	537					0	0	1	0	0	T	65631319	C	T	65631319	4	4	22	1	0	0	0	0	0	1	0	0	10036	760	27	1	1044	1	MUS81	11	65631319	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	722	65631319	69375197	11925	14071											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					51	230					0	0	1	0	0	A	65632028	G	A	65632028	3	1	22	1	0	0	0	0	1	0	0	0	10036	1145	40	1	1162	1	MUS81	11	65632028	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	709	65632028	69374488	11926	14072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	453					0	0	1	0	0	A	65637409	G	A	65637409	3	1	22	1	0	0	0	0	1	0	0	0	4968	1087	38	1	705	1	EFEMP2	11	65637409	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5381	65637409	69369107	11927	14073											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000445560.2_Missense_Mutation_p.P19T|BANF1_ENST00000533166.1_Missense_Mutation_p.P19T|BANF1_ENST00000524628.1_Intron|BANF1_ENST00000527348.1_Missense_Mutation_p.P19T	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													41	151					3.38236e-24	3.86174e-24	1	1	0	A	65770776	C	A	65770776	3	1	22	1	0	0	0	0	1	0	0	0	1305	739	26	2	57	2	BANF1	11	65770776	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133367	65770776	69235740	11928	14074											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	154					0	0	1	0	0	G	65784598	T	G	65784598	3	3	22	1	0	0	0	0	1	0	0	0	2705	1551	54	3	101	3	CATSPER1	11	65784598	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13822	65784598	69221918	11929	14075											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	284					1.63007e-36	1.95181e-36	1	1	0	T	65789270	G	T	65789270	3	4	22	1	0	0	0	0	1	0	0	0	2705	1000	35	2	872	2	CATSPER1	11	65789270	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4672	65789270	69217246	11930	14076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	32	436					0	0	1	0	0	T	65790401	C	T	65790401	3	4	22	1	0	0	0	0	1	0	0	0	2705	835	29	2	1038	2	CATSPER1	11	65790401	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1131	65790401	69216115	11931	14077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	273					0	0	1	0	0	T	65792817	C	T	65792817	3	4	22	1	0	0	0	0	1	0	0	0	2705	536	19	1	1356	1	CATSPER1	11	65792817	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2416	65792817	69213699	11932	14078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	74					0	0	1	0	0	T	65793057	C	T	65793057	3	4	22	1	0	0	0	0	1	0	0	0	2705	797	28	2	1596	2	CATSPER1	11	65793057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	240	65793057	69213459	11933	14079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	235					0	0	1	0	0	G	65793392	T	G	65793392	3	3	22	1	0	0	0	0	1	0	0	0	2705	1490	52	3	1931	3	CATSPER1	11	65793392	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	335	65793392	69213124	11934	14080											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	589					0	0	1	0	0	T	65793568	C	T	65793568	3	4	22	1	0	0	0	0	1	0	0	0	2705	681	24	2	2107	2	CATSPER1	11	65793568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176	65793568	69212948	11935	14081											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	201					0	0	1	0	0	A	65811009	G	A	65811009	3	1	22	1	0	0	0	0	1	0	0	0	6239	1087	38	1	1034	1	GAL3ST3	11	65811009	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17441	65811009	69195507	11936	14082											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	259					4.75885e-15	5.18821e-15	1	1	0	T	65829183	G	T	65829183	3	4	22	1	0	0	0	0	1	0	0	0	14205	991	35	2	1864	2	SF3B2	11	65829183	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18174	65829183	69177333	11937	14083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	246					0	0	1	0	0	T	65988131	C	T	65988131	2	4	22	1	0	0	0	0	0	0	0	1	11419	755	27	1		1	PACS1	11	65988131	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158948	65988131	69018385	11938	14084											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000421552.1_Silent_p.Y382Y|KLC2_ENST00000394067.2_Silent_p.Y459Y|KLC2_ENST00000417856.1_Silent_p.Y459Y|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000316924.5_Silent_p.Y459Y|KLC2_ENST00000394066.2_Silent_p.Y382Y			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													12	242					0	0	1	0	0	T	66033168	C	T	66033168	2	4	22	1	0	0	0	0	0	0	0	1	8377	518	18	2		2	KLC2	11	66033168	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45037	66033168	68973348	11939	14085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	111					0	0	1	0	0	T	66043577	C	T	66043577	2	4	22	1	0	0	0	0	0	0	0	1	12958	871	31	1		1	RAB1B	11	66043577	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10409	66043577	68962939	11940	14086											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	62					0	0	1	0	0	T	66043694	C	T	66043694	2	4	22	1	0	0	0	0	0	0	0	1	12958	755	27	1		1	RAB1B	11	66043694	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117	66043694	68962822	11941	14087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	YIF1A_ENST00000471387.2_Silent_p.P149P|YIF1A_ENST00000359461.6_Missense_Mutation_p.V211I|YIF1A_ENST00000496746.1_Missense_Mutation_p.V49I|YIF1A_ENST00000526497.1_5'UTR|CNIH2_ENST00000530519.1_Intron	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													50	182					0	0	1	0	0	T	66052203	C	T	66052203	3	4	22	1	0	0	0	0	1	0	0	0	17535	536	19	1	98	1	YIF1A	11	66052203	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8509	66052203	68954313	11942	14088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	61					3.32936e-07	3.45006e-07	1	1	0	A	66062461	C	A	66062461	2	1	22	1	0	0	0	0	0	0	0	1	16130	726	26	2		2	TMEM151A	11	66062461	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10258	66062461	68944055	11943	14089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	171					0	0	1	0	0	T	66083499	C	T	66083499	3	4	22	1	0	0	0	0	1	0	0	0	3011	893	31	1	1277	1	CD248	11	66083499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21038	66083499	68923017	11944	14090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424433.2_Missense_Mutation_p.L182I|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000530056.1_Missense_Mutation_p.L182I	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													22	98					1.96292e-10	2.08093e-10	1	1	0	T	66102411	G	T	66102411	3	4	22	1	0	0	0	0	1	0	0	0	13423	962	34	2	1512	2	RIN1	11	66102411	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18912	66102411	68904105	11945	14091											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	312					0	0	1	0	0	A	66109606	G	A	66109606	3	1	22	1	0	0	0	0	1	0	0	0	1518	1086	38	1	820	1	BRMS1	11	66109606	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7195	66109606	68896910	11946	14092											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000311161.7_Missense_Mutation_p.R98C|SLC29A2_ENST00000544554.1_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													13	31					0	0	1	0	0	A	66136654	G	A	66136654	3	1	22	1	0	0	0	0	1	0	0	0	14590	1087	38	1	1114	1	SLC29A2	11	66136654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27048	66136654	68869862	11947	14093											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	373					0	0	1	0	0	A	66192584	G	A	66192584	2	1	22	1	0	0	0	0	0	0	0	1	10612	1074	38	1		1	NPAS4	11	66192584	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55930	66192584	68813932	11948	14094											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000320740.7_Missense_Mutation_p.F442L|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													21	73					0	0	1	0	0	C	66243552	T	C	66243552	3	2	22	1	0	0	0	0	1	0	0	0	11770	1841	64	3	1350	3	PELI3	11	66243552	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	50968	66243552	68762964	11949	14095											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453114.1_Missense_Mutation_p.R65H|DPP3_ENST00000531863.1_Missense_Mutation_p.R85H|DPP3_ENST00000360510.2_Missense_Mutation_p.R65H|DPP3_ENST00000530165.1_Missense_Mutation_p.R65H|DPP3_ENST00000541961.1_Missense_Mutation_p.R65H	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													12	406					0	0	1	0	0	A	66249865	G	A	66249865	3	1	22	1	0	0	0	0	1	0	0	0	4754	1087	38	1	196	1	DPP3	11	66249865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6313	66249865	68756651	11950	14096											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453114.1_Nonsense_Mutation_p.Q135*|DPP3_ENST00000531863.1_Nonsense_Mutation_p.Q155*|DPP3_ENST00000360510.2_Nonsense_Mutation_p.Q135*|DPP3_ENST00000530165.1_Nonsense_Mutation_p.Q105*|DPP3_ENST00000541961.1_Nonsense_Mutation_p.Q135*	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													14	642					0	0	1	0	0	T	66254053	C	T	66254053	4	4	22	1	0	0	0	0	0	1	0	0	4754	711	25	2	413	2	DPP3	11	66254053	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4188	66254053	68752463	11951	14097											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453114.1_Missense_Mutation_p.D186N|DPP3_ENST00000531863.1_Missense_Mutation_p.D206N|DPP3_ENST00000360510.2_Missense_Mutation_p.D186N|DPP3_ENST00000530165.1_Missense_Mutation_p.D156N|DPP3_ENST00000541961.1_Missense_Mutation_p.D186N	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													57	254					0	0	1	0	0	A	66254796	G	A	66254796	3	1	22	1	0	0	0	0	1	0	0	0	4754	1174	41	2	570	2	DPP3	11	66254796	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	743	66254796	68751720	11952	14098											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453114.1_Missense_Mutation_p.L193I|DPP3_ENST00000531863.1_Missense_Mutation_p.L213I|DPP3_ENST00000360510.2_Missense_Mutation_p.L193I|DPP3_ENST00000530165.1_Missense_Mutation_p.L163I|DPP3_ENST00000541961.1_Missense_Mutation_p.L193I	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													42	168					1.7489e-18	1.94175e-18	1	1	0	A	66255388	C	A	66255388	3	1	22	1	0	0	0	0	1	0	0	0	4754	681	24	2	595	2	DPP3	11	66255388	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	592	66255388	68751128	11953	14099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453114.1_Silent_p.R319R|DPP3_ENST00000531863.1_Silent_p.R339R|DPP3_ENST00000360510.2_Silent_p.R319R|DPP3_ENST00000530165.1_Silent_p.R289R|DPP3_ENST00000541961.1_Silent_p.R319R	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													247	1041					0	0	1	0	0	T	66259196	C	T	66259196	2	4	22	1	0	0	0	0	0	0	0	1	4754	755	27	1		1	DPP3	11	66259196	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3808	66259196	68747320	11954	14100											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	87					1.66031e-10	1.76115e-10	1	1	0	T	66307147	G	T	66307147	2	4	22	1	0	0	0	0	0	0	0	1	17673	987	35	2		2	ZDHHC24	11	66307147	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47951	66307147	68699369	11955	14101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	225					0	0	1	0	0	T	66329613	C	T	66329613	1	4	22	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	11956	14102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	221					4.54149e-19	5.05721e-19	1	1	0	T	66359860	G	T	66359860	2	4	22	1	0	0	0	0	0	0	0	1	2882	1164	41	2		2	CCDC87	11	66359860	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30247	66359860	68646656	11957	14103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	177					0	0	1	0	0	A	66366974	G	A	66366974	3	1	22	1	0	0	0	0	1	0	0	0	2974	1145	40	1	309	1	CCS	11	66366974	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7114	66366974	68639542	11958	14104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000310046.4_Missense_Mutation_p.R307H|RBM4B_ENST00000529195.2_5'UTR|RBM4B_ENST00000531969.1_Intron			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													60	343					0	0	1	0	0	T	66436255	C	T	66436255	3	4	22	1	0	0	0	0	1	0	0	0	13194	536	19	1	163	1	RBM4B	11	66436255	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69281	66436255	68570261	11959	14105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	200					0	0	1	0	0	A	66455061	G	A	66455061	3	1	22	1	0	0	0	0	1	0	0	0	15176	1057	37	1	629	1	SPTBN2	11	66455061	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18806	66455061	68551455	11960	14106											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	222					0	0	1	0	0	A	66456195	G	A	66456195	3	1	22	1	0	0	0	0	1	0	0	0	15176	1086	38	1	1044	1	SPTBN2	11	66456195	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1134	66456195	68550321	11961	14107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	221					0	0	1	0	0	A	66460174	G	A	66460174	2	1	22	1	0	0	0	0	0	0	0	1	15176	962	34	2		2	SPTBN2	11	66460174	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3979	66460174	68546342	11962	14108											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	13	320					0	0	1	0	0	T	66461759	C	T	66461759	3	4	22	1	0	0	0	0	1	0	0	0	15176	864	30	2	2886	2	SPTBN2	11	66461759	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1585	66461759	68544757	11963	14109											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	508					0	0	1	0	0	T	66466946	C	T	66466946	3	4	22	1	0	0	0	0	1	0	0	0	15176	768	27	1	3549	1	SPTBN2	11	66466946	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5187	66466946	68539570	11964	14110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	192					1.22674e-20	1.37621e-20	1	1	0	A	66468126	C	A	66468126	3	1	22	1	0	0	0	0	1	0	0	0	15176	680	24	2	3816	2	SPTBN2	11	66468126	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1180	66468126	68538390	11965	14111											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	94					0	0	1	0	0	A	66472170	G	A	66472170	2	1	22	1	0	0	0	0	0	0	0	1	15176	1078	38	1		1	SPTBN2	11	66472170	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4044	66472170	68534346	11966	14112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													157	621					0	0	1	0	0	A	66481107	G	A	66481107	3	1	22	1	0	0	0	0	1	0	0	0	15176	1232	43	2	6529	2	SPTBN2	11	66481107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8937	66481107	68525409	11967	14113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	57					0	0	1	0	0	A	66611062	G	A	66611062	3	1	22	1	0	0	0	0	1	0	0	0	13228	1087	38	1	138	1	RCE1	11	66611062	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129955	66611062	68395454	11968	14114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	379					0	0	1	0	0	C	66619997	T	C	66619997	3	2	22	1	0	0	0	0	1	0	0	0	11544	1696	59	3	1834	3	PC	11	66619997	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8935	66619997	68386519	11969	14115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	291					0	0	1	0	0	A	66816068	G	A	66816068	3	1	22	1	0	0	0	0	1	0	0	0	15525	1087	38	1	1132	1	SYT12	11	66816068	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	196071	66816068	68190448	11970	14116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000532559.1_Intron|RHOD_ENST00000533360.1_Missense_Mutation_p.R80H	NM_014578.3	NP_055393.1	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													120	551					0	0	1	0	0	A	66834227	G	A	66834227	3	1	22	1	0	0	0	0	1	0	0	0	13387	1087	38	1	249	1	RHOD	11	66834227	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18159	66834227	68172289	11971	14117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	189					0	0	1	0	0	G	66975059	A	G	66975059	3	3	22	1	0	0	0	0	1	0	0	0	8168	391	14	3	404	3	KDM2A	11	66975059	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	140832	66975059	68031457	11972	14118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000308783.5_Silent_p.L7L|KDM2A_ENST00000398645.2_Silent_p.L549L|KDM2A_ENST00000530342.1_Silent_p.L110L|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													97	669					0	0	1	0	0	C	67012741	T	C	67012741	2	2	22	1	0	0	0	0	0	0	0	1	8168	1722	60	3		3	KDM2A	11	67012741	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37682	67012741	67993775	11973	14119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000308783.5_Silent_p.Q304Q|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000530342.1_Silent_p.Q407Q|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													35	153					0	0	1	0	0	A	67018039	G	A	67018039	2	1	22	1	0	0	0	0	0	0	0	1	8168	962	34	2		2	KDM2A	11	67018039	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5298	67018039	67988477	11974	14120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	302					0	0	1	0	0	A	67049022	G	A	67049022	3	1	22	1	0	0	0	0	1	0	0	0	342	971	34	2	774	2	ADRBK1	11	67049022	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30983	67049022	67957494	11975	14121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	391					0	0	1	0	0	G	67049920	A	G	67049920	3	3	22	1	0	0	0	0	1	0	0	0	342	391	14	3	1117	3	ADRBK1	11	67049920	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	898	67049920	67956596	11976	14122	89	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	401					0	0	1	0	0	A	67049925	G	A	67049925	3	1	22	1	0	0	0	0	1	0	0	0	342	1203	42	2	1122	2	ADRBK1	11	67049925	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	67049925	67956591	11977	14123	89	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	113					0	0	1	0	0	T	67050268	C	T	67050268	2	4	22	1	0	0	0	0	0	0	0	1	342	874	31	1		1	ADRBK1	11	67050268	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	343	67050268	67956248	11978	14124											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447274.2_Intron|ANKRD13D_ENST00000511455.2_Intron|ANKRD13D_ENST00000308440.6_Intron|ANKRD13D_ENST00000514166.1_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													32	127					6.00712e-18	6.65163e-18	1	1	0	A	67068443	C	A	67068443	2	1	22	1	0	0	0	0	0	0	0	1	640	696	24	2		2	ANKRD13D	11	67068443	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18175	67068443	67938073	11979	14125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					142	661					0	0	1	0	0	T	67163803	C	T	67163803	2	4	22	1	0	0	0	0	0	0	0	1	13047	639	23	1		1	RAD9A	11	67163803	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95360	67163803	67842713	11980	14126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358239.4_Missense_Mutation_p.A255T|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000312989.7_Missense_Mutation_p.A310T	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													46	211					0	0	1	0	0	T	67166104	C	T	67166104	3	4	22	1	0	0	0	0	1	0	0	0	12398	768	27	1	101	1	PPP1CA	11	67166104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2301	67166104	67840412	11981	14127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	98					0.014758	0.0148251	1	1	0	T	67186961	G	T	67186961	3	4	22	1	0	0	0	0	1	0	0	0	2674	971	34	2	874	2	CARNS1	11	67186961	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20857	67186961	67819555	11982	14128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_Silent_p.D27D	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													52	292					0	0	1	0	0	T	67196455	C	T	67196455	2	4	22	1	0	0	0	0	0	0	0	1	13709	535	19	1		1	RPS6KB2	11	67196455	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9494	67196455	67810061	11983	14129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	203					0	0	1	0	0	T	67200475	C	T	67200475	2	4	22	1	0	0	0	0	0	0	0	1	13709	755	27	1		1	RPS6KB2	11	67200475	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4020	67200475	67806041	11984	14130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	275					2.22609e-26	2.56449e-26	1	1	0	A	67205955	C	A	67205955	3	1	22	1	0	0	0	0	1	0	0	0	3777	680	24	2	111	2	CORO1B	11	67205955	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5480	67205955	67800561	11985	14131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	92					0	0	1	0	0	A	67206391	G	A	67206391	2	1	22	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	11986	14132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	263					0	0	1	0	0	T	67219490	C	T	67219490	3	4	22	1	0	0	0	0	1	0	0	0	6698	768	27	1	710	1	GPR152	11	67219490	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13099	67219490	67787026	11987	14133											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_5'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													6	93					0	0	1	0	0	T	67219976	C	T	67219976	3	4	22	1	0	0	0	0	1	0	0	0	6698	739	26	2	1196	2	GPR152	11	67219976	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	486	67219976	67786540	11988	14134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534749.1_Missense_Mutation_p.A1133V|PITPNM1_ENST00000436757.2_Missense_Mutation_p.A1132V	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													145	883					0	0	1	0	0	A	67260478	G	A	67260478	3	1	22	1	0	0	0	0	1	0	0	0	11998	1087	38	1	344	1	PITPNM1	11	67260478	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40502	67260478	67746038	11989	14135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534749.1_Missense_Mutation_p.R145W|PITPNM1_ENST00000436757.2_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													11	181					0	0	1	0	0	A	67269540	G	A	67269540	3	1	22	1	0	0	0	0	1	0	0	0	11998	1086	38	1	3381	1	PITPNM1	11	67269540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9062	67269540	67736976	11990	14136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	157					0	0	1	0	0	T	67354023	C	T	67354023	3	4	22	1	0	0	0	0	1	0	0	0	6885	623	22	2	634	2	GSTP1	11	67354023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84483	67354023	67652493	11991	14137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000532303.1_Splice_Site|NDUFV1_ENST00000526169.1_Splice_Site|NDUFV1_ENST00000529927.1_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													91	457					2.84844e-50	3.52894e-50	1	1	0	T	67376922	G	T	67376922	5	4	22	1	0	0	0	0	0	0	1	0	10346	1014	35	2	340	2	NDUFV1	11	67376922	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22899	67376922	67629594	11992	14138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	83					3.73148e-12	3.99992e-12	1	1	0	T	67397232	G	T	67397232	3	4	22	1	0	0	0	0	1	0	0	0	10793	962	34	2	283	2	NUDT8	11	67397232	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20310	67397232	67609284	11993	14139											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	330					0	0	1	0	0	A	67401799	G	A	67401799	3	1	22	1	0	0	0	0	1	0	0	0	15711	1087	38	1	767	1	TBX10	11	67401799	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4567	67401799	67604717	11994	14140											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000686.2	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													86	445					9.35349e-44	1.14279e-43	1	1	0	T	67433656	G	T	67433656	3	4	22	1	0	0	0	0	1	0	0	0	497	962	34	2	921	2	ALDH3B2	11	67433656	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31857	67433656	67572860	11995	14141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000007633.8_Missense_Mutation_p.R294W|ALDH3B1_ENST00000434449.1_3'UTR|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													90	431					0	0	1	0	0	T	67789274	C	T	67789274	3	4	22	1	0	0	0	0	1	0	0	0	496	759	27	1	904	1	ALDH3B1	11	67789274	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	355618	67789274	67217242	11996	14142											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000007633.8_Missense_Mutation_p.E348A|ALDH3B1_ENST00000434449.1_3'UTR|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													85	362					0	0	1	0	0	C	67790162	A	C	67790162	3	2	22	1	0	0	0	0	1	0	0	0	496	304	11	3	1073	3	ALDH3B1	11	67790162	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	888	67790162	67216354	11997	14143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													131	571					3.13773e-49	3.8801e-49	1	1	0	T	67816688	G	T	67816688	3	4	22	1	0	0	0	0	1	0	0	0	15763	971	34	2	1868	2	TCIRG1	11	67816688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26526	67816688	67189828	11998	14144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_060105.3	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													40	1009					3.03874e-20	3.40186e-20	1	1	0	A	67925463	C	A	67925463	3	1	22	1	0	0	0	0	1	0	0	0	15470	913	32	2	311	2	SUV420H1	11	67925463	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108775	67925463	67081053	11999	14145											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_060105.3	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													40	242					0	0	1	0	0	T	67925796	C	T	67925796	3	4	22	1	0	0	0	0	1	0	0	0	15470	536	19	1	644	1	SUV420H1	11	67925796	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	333	67925796	67080720	12000	14146											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000401547.2_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000402185.2_Nonsense_Mutation_p.R197*|SUV420H1_ENST00000402789.1_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000405515.1_Nonsense_Mutation_p.R220*	NM_017635.3	NP_060105.3	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													36	236					0	0	1	0	0	A	67939172	G	A	67939172	4	1	22	1	0	0	0	0	0	1	0	0	15470	1153	40	1	2027	1	SUV420H1	11	67939172	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13376	67939172	67067344	12001	14147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	318					0	0	1	0	0	A	68153814	G	A	68153814	3	1	22	1	0	0	0	0	1	0	0	0	9005	1116	39	1	1068	1	LRP5	11	68153814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214642	68153814	66852702	12002	14148											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	324					0	0	1	0	0	C	68171011	T	C	68171011	3	2	22	1	0	0	0	0	1	0	0	0	9005	1841	64	3	1675	3	LRP5	11	68171011	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17197	68171011	66835505	12003	14149											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	232					0	0	1	0	0	A	68181324	G	A	68181324	3	1	22	1	0	0	0	0	1	0	0	0	9005	1174	41	2	2717	2	LRP5	11	68181324	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10313	68181324	66825192	12004	14150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	390					0	0	1	0	0	T	68191127	C	T	68191127	2	4	22	1	0	0	0	0	0	0	0	1	9005	755	27	1		1	LRP5	11	68191127	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9803	68191127	66815389	12005	14151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	120					0	0	1	0	0	A	68206126	G	A	68206126	3	1	22	1	0	0	0	0	1	0	0	0	9005	1116	39	1	4402	1	LRP5	11	68206126	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14999	68206126	66800390	12006	14152											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540869.1_5'UTR|MTL5_ENST00000255087.5_Silent_p.G152G|MTL5_ENST00000544963.1_Silent_p.G152G			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													16	66					0	0	1	0	0	A	68517673	G	A	68517673	2	1	22	1	0	0	0	0	0	0	0	1	9984	1074	38	1		1	MTL5	11	68517673	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	311547	68517673	66488843	12007	14153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	46					0	0	1	0	0	T	68517909	C	T	68517909	3	4	22	1	0	0	0	0	1	0	0	0	9984	884	31	1	1346	1	MTL5	11	68517909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	236	68517909	66488607	12008	14154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	87					0	0	1	0	0	A	68518082	G	A	68518082	3	1	22	1	0	0	0	0	1	0	0	0	9984	1087	38	1	1519	1	MTL5	11	68518082	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	173	68518082	66488434	12009	14155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	492					0	0	1	0	0	A	68664142	G	A	68664142	2	1	22	1	0	0	0	0	0	0	0	1	9836	1045	37	1		1	MRPL21	11	68664142	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146060	68664142	66342374	12010	14156											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	294					0	0	1	0	0	A	68703961	G	A	68703961	2	1	22	1	0	0	0	0	0	0	0	1	7635	1132	40	1		1	IGHMBP2	11	68703961	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39819	68703961	66302555	12011	14157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	158					3.86903e-22	4.37239e-22	1	1	0	A	68707097	C	A	68707097	2	1	22	1	0	0	0	0	0	0	0	1	7635	610	22	2		2	IGHMBP2	11	68707097	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3136	68707097	66299419	12012	14158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	146					0	0	1	0	0	A	68747857	G	A	68747857	3	1	22	1	0	0	0	0	1	0	0	0	9812	1261	44	2	369	2	MRGPRD	11	68747857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40760	68747857	66258659	12013	14159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	160					0	0	1	0	0	T	68821505	C	T	68821505	2	4	22	1	0	0	0	0	0	0	0	1	16457	639	23	1		1	TPCN2	11	68821505	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73648	68821505	66185011	12014	14160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													176	709					0	0	1	0	0	A	68830434	G	A	68830434	3	1	22	1	0	0	0	0	1	0	0	0	16457	1087	38	1	651	1	TPCN2	11	68830434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8929	68830434	66176082	12015	14161											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	753					0	0	1	0	0	A	70170552	G	A	70170552	2	1	22	1	0	0	0	0	0	0	0	1	12354	962	34	2		2	PPFIA1	11	70170552	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1340118	70170552	64835964	12016	14162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	344					0	0	1	0	0	T	70208223	C	T	70208223	3	4	22	1	0	0	0	0	1	0	0	0	12354	643	23	1	2679	1	PPFIA1	11	70208223	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37671	70208223	64798293	12017	14163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000530690.1_RNA|AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.M1170I|PPFIA1_ENST00000530548.1_3'UTR	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													88	428					0	0	1	0	0	A	70224261	G	A	70224261	3	1	22	1	0	0	0	0	1	0	0	0	12354	1377	48	2	3608	2	PPFIA1	11	70224261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16038	70224261	64782255	12018	14164											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70256068T>C	ENST00000301843.8	+	5	497		c.e5+2		CTTN_ENST00000346329.3_Splice_Site|CTTN_ENST00000527622.1_Splice_Site|CTTN_ENST00000376561.3_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													23	747					0	0	1	0	0	C	70256068	T	C	70256068	5	2	22	1	0	0	0	0	0	0	1	0	4068	1652	57	3	303	3	CTTN	11	70256068	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31807	70256068	64750448	12019	14165											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	317					0	0	1	0	0	A	70319395	G	A	70319395	3	1	22	1	0	0	0	0	1	0	0	0	14320	1000	35	2	424	2	SHANK2	11	70319395	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63327	70319395	64687121	12020	14166	90	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	311					4.83677e-39	5.84255e-39	1	1	0	T	70319396	G	T	70319396	3	4	22	1	0	0	0	0	1	0	0	0	14320	1232	43	2	425	2	SHANK2	11	70319396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1	70319396	64687120	12021	14167	90	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	458					0	0	1	0	0	C	70332710	A	C	70332710	3	2	22	1	0	0	0	0	1	0	0	0	14320	275	10	3	1869	3	SHANK2	11	70332710	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13314	70332710	64673806	12022	14168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	423					2.12943e-44	2.60573e-44	1	1	0	T	70333167	G	T	70333167	2	4	22	1	0	0	0	0	0	0	0	1	14320	987	35	2		2	SHANK2	11	70333167	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	457	70333167	64673349	12023	14169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				20	425					0	0	1	0	0	A	71146496	G	A	71146496	2	1	22	1	0	0	0	0	0	0	0	1	4505	1079	38	1		1	DHCR7	11	71146496	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	813329	71146496	63860020	12024	14170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				28	328					7.01153e-11	7.45501e-11	1	1	0	T	71148891	G	T	71148891	3	4	22	1	0	0	0	0	1	0	0	0	4505	1020	36	2	505	2	DHCR7	11	71148891	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2395	71148891	63857625	12025	14171											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				22	128					0	0	1	0	0	A	71152458	G	A	71152458	2	1	22	1	0	0	0	0	0	0	0	1	4505	1190	42	2		2	DHCR7	11	71152458	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3567	71152458	63854058	12026	14172											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	193					8.16277e-20	9.1228e-20	1	1	0	T	71183494	G	T	71183494	5	4	22	1	0	0	0	0	0	0	1	0	10186	1014	35	2	429	2	NADSYN1	11	71183494	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31036	71183494	63823022	12027	14173											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	179					0	0	1	0	0	A	71183521	G	A	71183521	3	1	22	1	0	0	0	0	1	0	0	0	10186	1116	39	1	456	1	NADSYN1	11	71183521	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27	71183521	63822995	12028	14174											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	187					0	0	1	0	0	A	71184618	G	A	71184618	2	1	22	1	0	0	0	0	0	0	0	1	10186	1074	38	1		1	NADSYN1	11	71184618	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1097	71184618	63821898	12029	14175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	212					0	0	1	0	0	T	71208551	C	T	71208551	3	4	22	1	0	0	0	0	1	0	0	0	10186	768	27	1	1861	1	NADSYN1	11	71208551	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23933	71208551	63797965	12030	14176											
KRTAP5-8	57830	broad.mit.edu	37	chr11	71249545	71249545	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttcccagtccagctgCtgtaagccctgctgctgctc	10	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71249545C>A	ENST00000398534.3	+	1	475	c.444C>A	c.(442-444)tgC>tgA	p.C148*		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	148	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						AGTCCAGCTGCTGTAAGCCCT	0.607													59	1522					7.41945e-09	7.77385e-09	1	1	0	A	71249545	C	A	71249545	4	1	22	1	0	0	0	0	0	1	0	0	8606	805	28	2	446	2	KRTAP5-8	11	71249545	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40994	71249545	63756971	12031	14177											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000351960.6_Nonsense_Mutation_p.E819*|NUMA1_ENST00000358965.6_Nonsense_Mutation_p.E1941*	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								8	221					0.00307968	0.00310409	1	1	0	A	71715829	C	A	71715829	4	1	22	1	0	0	0	0	0	1	0	0	10798	864	30	2	500	2	NUMA1	11	71715829	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	466284	71715829	63290687	12032	14178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000351960.6_Missense_Mutation_p.E503D|NUMA1_ENST00000358965.6_Missense_Mutation_p.E1625D	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								49	250					4.17463e-26	4.80398e-26	1	1	0	A	71720154	C	A	71720154	3	1	22	1	0	0	0	0	1	0	0	0	10798	796	28	2	1466	2	NUMA1	11	71720154	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4325	71720154	63286362	12033	14179											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.K525K	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)	207	777					0	0	1	0	0	T	71726974	C	T	71726974	2	4	22	1	0	0	0	0	0	0	0	1	10798	796	28	2		2	NUMA1	11	71726974	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6820	71726974	63279542	12034	14180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000351960.6_Missense_Mutation_p.D62N|NUMA1_ENST00000358965.6_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								81	324					0	0	1	0	0	T	71735344	C	T	71735344	3	4	22	1	0	0	0	0	1	0	0	0	10798	855	30	2	6255	2	NUMA1	11	71735344	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8370	71735344	63271172	12035	14181											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536917.1_Missense_Mutation_p.A124V|LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000419228.1_5'UTR|LRTOMT_ENST00000307198.7_5'UTR|LRTOMT_ENST00000289488.2_Missense_Mutation_p.A124V|LRTOMT_ENST00000423494.2_Missense_Mutation_p.A106V|LRTOMT_ENST00000539587.1_5'UTR|LRTOMT_ENST00000440313.2_5'UTR|LRTOMT_ENST00000435085.1_5'UTR|LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000539271.1_5'UTR|LRTOMT_ENST00000538478.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000541614.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000439209.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000447974.1_Missense_Mutation_p.A124V	NM_001271471.2	NP_001258400.1	Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing	124						cytoplasm				large_intestine(2)|lung(1)|ovary(1)	4						AATAAGCTGGCTGTCCTTCCT	0.562													10	435					0	0	1	0	0	T	71806076	C	T	71806076	3	4	22	1	0	0	0	0	1	0	0	0	9091	797	28	2	381	2	LRTOMT	11	71806076	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70732	71806076	63200440	12036	14182											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000456237.1_Missense_Mutation_p.A229T|FOLR3_ENST00000442948.2_Missense_Mutation_p.A186T			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													77	334					0	0	1	0	0	A	71850696	G	A	71850696	3	1	22	1	0	0	0	0	1	0	0	0	6016	1087	38	1	571	1	FOLR3	11	71850696	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44620	71850696	63155820	12037	14183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000456237.1_Missense_Mutation_p.A272V|FOLR3_ENST00000442948.2_Missense_Mutation_p.A229V			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													34	193					0	0	1	0	0	T	71850826	C	T	71850826	3	4	22	1	0	0	0	0	1	0	0	0	6016	797	28	2	701	2	FOLR3	11	71850826	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130	71850826	63155690	12038	14184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393676.3_Missense_Mutation_p.A173T|FOLR1_ENST00000393681.2_Missense_Mutation_p.A173T|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													88	467					0	0	1	0	0	A	71906964	G	A	71906964	3	1	22	1	0	0	0	0	1	0	0	0	6014	971	34	2	531	2	FOLR1	11	71906964	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56138	71906964	63099552	12039	14185											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541756.1_Missense_Mutation_p.M169V|INPPL1_ENST00000538751.1_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													50	222					0	0	1	0	0	G	71941873	A	G	71941873	3	3	22	1	0	0	0	0	1	0	0	0	7805	217	8	3	1273	3	INPPL1	11	71941873	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34909	71941873	63064643	12040	14186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71948167G>T	ENST00000298229.2	+	26	3083		c.e26-1		INPPL1_ENST00000541756.1_Splice_Site|INPPL1_ENST00000538751.1_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													108	459					1.15724e-44	1.41663e-44	1	1	0	T	71948167	G	T	71948167	5	4	22	1	0	0	0	0	0	0	1	0	7805	1014	35	2	2981	2	INPPL1	11	71948167	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6294	71948167	63058349	12041	14187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340729.5_Missense_Mutation_p.V107I|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000538039.1_Missense_Mutation_p.V107I|CLPB_ENST00000437826.2_Missense_Mutation_p.G26D	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)	14	586					0	0	1	0	0	T	72145200	C	T	72145200	3	4	22	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	12042	14188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540345.1_Missense_Mutation_p.P325S|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000544570.1_Missense_Mutation_p.P327S|PDE2A_ENST00000444035.2_Missense_Mutation_p.P325S|PDE2A_ENST00000418754.2_Missense_Mutation_p.P219S	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													77	295					0	0	1	0	0	A	72299898	G	A	72299898	3	1	22	1	0	0	0	0	1	0	0	0	11683	1232	43	2	1901	2	PDE2A	11	72299898	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154698	72299898	62706618	12043	14189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393609.3_Missense_Mutation_p.D941Y|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000426523.1_Missense_Mutation_p.D696Y|ARAP1_ENST00000334211.8_Missense_Mutation_p.D696Y|ARAP1_ENST00000429686.1_Missense_Mutation_p.D635Y|ARAP1_ENST00000393605.3_Missense_Mutation_p.D701Y|ARAP1_ENST00000455638.2_Missense_Mutation_p.D941Y			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													6	166					0.0293803	0.0294705	1	1	0	A	72408500	C	A	72408500	3	1	22	1	0	0	0	0	1	0	0	0	835	855	30	2	1591	2	ARAP1	11	72408500	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108602	72408500	62598016	12044	14190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393609.3_Missense_Mutation_p.A260V|ARAP1_ENST00000426523.1_Missense_Mutation_p.A15V|ARAP1_ENST00000334211.8_Missense_Mutation_p.A15V|ARAP1_ENST00000429686.1_Missense_Mutation_p.A15V|ARAP1_ENST00000393605.3_Missense_Mutation_p.A20V|ARAP1_ENST00000455638.2_Missense_Mutation_p.A260V			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													230	1014					0	0	1	0	0	A	72423582	G	A	72423582	3	1	22	1	0	0	0	0	1	0	0	0	835	1203	42	2	3693	2	ARAP1	11	72423582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15082	72423582	62582934	12045	14191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000311172.7_Missense_Mutation_p.T377A|FCHSD2_ENST00000458644.2_Missense_Mutation_p.T297A|FCHSD2_ENST00000409853.1_Missense_Mutation_p.T377A|FCHSD2_ENST00000409418.4_Missense_Mutation_p.T433A			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													13	74					0	0	1	0	0	C	72578921	T	C	72578921	3	2	22	1	0	0	0	0	1	0	0	0	5823	1696	59	3	957	3	FCHSD2	11	72578921	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	155339	72578921	62427595	12046	14192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002555.2|NP_788086.1	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													107	388					0	0	1	0	0	A	72945946	G	A	72945946	3	1	22	1	0	0	0	0	1	0	0	0	11399	1087	38	1	744	1	P2RY2	11	72945946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	367025	72945946	62060570	12047	14193	91	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002555.2|NP_788086.1	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													99	400					0	0	1	0	0	T	72945948	C	T	72945948	2	4	22	1	0	0	0	0	0	0	0	1	11399	639	23	1		1	P2RY2	11	72945948	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2	72945948	62060568	12048	14194	91	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	267					0	0	1	0	0	T	73020891	A	T	73020891	3	4	22	1	0	0	0	0	1	0	0	0	897	275	10	5	1210	5	ARHGEF17	11	73020891	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	74943	73020891	61985625	12049	14195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	138					0	0	1	0	0	A	73074371	G	A	73074371	3	1	22	1	0	0	0	0	1	0	0	0	897	971	34	2	5175	2	ARHGEF17	11	73074371	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53480	73074371	61932145	12050	14196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	215					0	0	1	0	0	A	73103471	G	A	73103471	3	1	22	1	0	0	0	0	1	0	0	0	13273	1203	42	2	601	2	RELT	11	73103471	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29100	73103471	61903045	12051	14197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398494.4_Missense_Mutation_p.A198T|PLEKHB1_ENST00000543085.1_Missense_Mutation_p.A112T|PLEKHB1_ENST00000535129.1_Missense_Mutation_p.A163T|PLEKHB1_ENST00000227214.6_Missense_Mutation_p.A163T|PLEKHB1_ENST00000398492.4_Missense_Mutation_p.A182T	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)	80	348					0	0	1	0	0	A	73372564	G	A	73372564	3	1	22	1	0	0	0	0	1	0	0	0	12112	1087	38	1	679	1	PLEKHB1	11	73372564	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	269093	73372564	61633952	12052	14198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542303.1_Intron|MRPL48_ENST00000310614.7_Missense_Mutation_p.D99N|MRPL48_ENST00000398483.3_5'UTR|MRPL48_ENST00000411840.2_5'UTR|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													56	216					0	0	1	0	0	A	73555945	G	A	73555945	3	1	22	1	0	0	0	0	1	0	0	0	9861	1290	45	2	313	2	MRPL48	11	73555945	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183381	73555945	61450571	12053	14199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542303.1_Intron|MRPL48_ENST00000310614.7_Nonsense_Mutation_p.R155*|MRPL48_ENST00000398483.3_Nonsense_Mutation_p.R56*|MRPL48_ENST00000411840.2_Nonsense_Mutation_p.R56*|MRPL48_ENST00000535529.1_Nonsense_Mutation_p.R137*			Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	155					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			kidney(1)	1						CACCCATGAGCGAGTGGTTCA	0.438													23	107					0	0	1	0	0	T	73571043	C	T	73571043	4	4	22	1	0	0	0	0	0	1	0	0	9861	760	27	1	485	1	MRPL48	11	73571043	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15098	73571043	61435473	12054	14200											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542303.1_Missense_Mutation_p.R106Q|MRPL48_ENST00000310614.7_Missense_Mutation_p.R197Q|MRPL48_ENST00000398483.3_Missense_Mutation_p.R98Q|MRPL48_ENST00000411840.2_Missense_Mutation_p.R98Q|MRPL48_ENST00000535529.1_Missense_Mutation_p.R179Q			Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	197					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			kidney(1)	1						TTCAAGGGACGATTCAAAGCT	0.433													19	104					0	0	1	0	0	A	73575366	G	A	73575366	3	1	22	1	0	0	0	0	1	0	0	0	9861	1058	37	1	620	1	MRPL48	11	73575366	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4323	73575366	61431150	12055	14201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536003.1_Missense_Mutation_p.L309P|PAAF1_ENST00000310571.3_Missense_Mutation_p.L326P|PAAF1_ENST00000535604.1_Missense_Mutation_p.L211P|PAAF1_ENST00000541951.1_Missense_Mutation_p.L211P|PAAF1_ENST00000544552.1_Missense_Mutation_p.L309P|PAAF1_ENST00000376384.5_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													44	156					0	0	1	0	0	C	73630036	T	C	73630036	3	2	22	1	0	0	0	0	1	0	0	0	11409	1522	53	3	1015	3	PAAF1	11	73630036	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	54670	73630036	61376480	12056	14202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	250					0	0	1	0	0	T	73712499	C	T	73712499	2	4	22	1	0	0	0	0	0	0	0	1	16992	610	22	2		2	UCP3	11	73712499	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82463	73712499	61294017	12057	14203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000426995.2_Missense_Mutation_p.R244W|UCP3_ENST00000348534.4_Missense_Mutation_p.R142W	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													88	381					0	0	1	0	0	A	73714966	G	A	73714966	3	1	22	1	0	0	0	0	1	0	0	0	16992	1115	39	1	220	1	UCP3	11	73714966	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2467	73714966	61291550	12058	14204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	481					1.54295e-31	1.81717e-31	1	1	0	T	73768505	G	T	73768505	3	4	22	1	0	0	0	0	1	0	0	0	2168	1261	44	2	883	2	C2CD3	11	73768505	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53539	73768505	61238011	12059	14205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	427					4.63292e-17	5.10507e-17	1	1	0	T	73789414	G	T	73789414	3	4	22	1	0	0	0	0	1	0	0	0	2168	1000	35	2	1578	2	C2CD3	11	73789414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20909	73789414	61217102	12060	14206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													130	464					0	0	1	0	0	C	73803472	T	C	73803472	3	2	22	1	0	0	0	0	1	0	0	0	2168	1725	60	3	2437	3	C2CD3	11	73803472	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14058	73803472	61203044	12061	14207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	403					0	0	1	0	0	T	73809190	C	T	73809190	3	4	22	1	0	0	0	0	1	0	0	0	2168	884	31	1	3112	1	C2CD3	11	73809190	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5718	73809190	61197326	12062	14208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	413					0	0	1	0	0	T	73814404	C	T	73814404	2	4	22	1	0	0	0	0	0	0	0	1	2168	755	27	1		1	C2CD3	11	73814404	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5214	73814404	61192112	12063	14209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	372					3.12118e-38	3.75939e-38	1	1	0	A	73814473	C	A	73814473	3	1	22	1	0	0	0	0	1	0	0	0	2168	912	32	2	3680	2	C2CD3	11	73814473	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69	73814473	61192043	12064	14210											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539061.1_Missense_Mutation_p.D239E|C2CD3_ENST00000313663.7_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													35	166					9.80977e-26	1.12711e-25	1	1	0	T	73850003	G	T	73850003	3	4	22	1	0	0	0	0	1	0	0	0	2168	1252	44	2	5282	2	C2CD3	11	73850003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35530	73850003	61156513	12065	14211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	294					0	0	1	0	0	T	73980723	C	T	73980723	3	4	22	1	0	0	0	0	1	0	0	0	11405	710	25	2	205	2	P4HA3	11	73980723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130720	73980723	61025793	12066	14212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	341					5.08636e-23	5.77245e-23	1	1	0	A	74049647	C	A	74049647	5	1	22	1	0	0	0	0	0	0	1	0	11847	695	24	2	244	2	PGM2L1	11	74049647	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68924	74049647	60956869	12067	14213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	279					0	0	1	0	0	G	74054391	A	G	74054391	3	3	22	1	0	0	0	0	1	0	0	0	11847	72	3	3	599	3	PGM2L1	11	74054391	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4744	74054391	60952125	12068	14214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.S182S	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													58	326					0	0	1	0	0	T	74417568	C	T	74417568	2	4	22	1	0	0	0	0	0	0	0	1	3396	639	23	1		1	CHRDL2	11	74417568	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	363177	74417568	60588948	12069	14215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.A67A	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													47	194					6.68952e-21	7.51162e-21	1	1	0	T	74424519	G	T	74424519	2	4	22	1	0	0	0	0	0	0	0	1	3396	1219	43	2		2	CHRDL2	11	74424519	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6951	74424519	60581997	12070	14216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	174					2.32078e-09	2.442e-09	1	1	0	T	74545772	G	T	74545772	3	4	22	1	0	0	0	0	1	0	0	0	13512	991	35	2	912	2	RNF169	11	74545772	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121253	74545772	60460744	12071	14217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527087.1_Intron|XRRA1_ENST00000321448.8_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													21	61					0	0	1	0	0	A	74570255	G	A	74570255	3	1	22	1	0	0	0	0	1	0	0	0	17521	1145	40	1	1316	1	XRRA1	11	74570255	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24483	74570255	60436261	12072	14218											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000527087.1_Missense_Mutation_p.D309V|XRRA1_ENST00000321448.8_Missense_Mutation_p.D76V	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													45	218					0	0	1	0	0	A	74617337	T	A	74617337	3	1	22	1	0	0	0	0	1	0	0	0	17521	1435	50	5	1492	5	XRRA1	11	74617337	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47082	74617337	60389179	12073	14219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000532236.1_Missense_Mutation_p.R520Q|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R492Q|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.R409Q|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.R409Q	NM_007256.4	NP_009187.1	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													119	558					0	0	1	0	0	A	74914430	G	A	74914430	3	1	22	1	0	0	0	0	1	0	0	0	14782	1058	37	1	1957	1	SLCO2B1	11	74914430	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	297093	74914430	60092086	12074	14220											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	243					0	0	1	0	0	T	74994458	C	T	74994458	3	4	22	1	0	0	0	0	1	0	0	0	979	768	27	1	1077	1	ARRB1	11	74994458	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80028	74994458	60012058	12075	14221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533784.1_Missense_Mutation_p.A260D|GDPD5_ENST00000529721.1_Missense_Mutation_p.A379D|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000336898.3_Missense_Mutation_p.A379D|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													12	40					0.00136819	0.0013818	1	1	0	T	75153439	G	T	75153439	3	4	22	1	0	0	0	0	1	0	0	0	6369	1203	42	2	705	2	GDPD5	11	75153439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158981	75153439	59853077	12076	14222											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533784.1_Missense_Mutation_p.L226I|GDPD5_ENST00000529721.1_Missense_Mutation_p.L345I|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000336898.3_Missense_Mutation_p.L345I|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													32	165					2.47511e-08	2.58473e-08	1	1	0	T	75153542	G	T	75153542	3	4	22	1	0	0	0	0	1	0	0	0	6369	971	34	2	808	2	GDPD5	11	75153542	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103	75153542	59852974	12077	14223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	550					0	0	1	0	0	A	75316859	G	A	75316859	3	1	22	1	0	0	0	0	1	0	0	0	9314	1087	38	1	1143	1	MAP6	11	75316859	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163317	75316859	59689657	12078	14224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	336					0	0	1	0	0	T	75442258	A	T	75442258	3	4	22	1	0	0	0	0	1	0	0	0	9744	304	11	5	954	5	MOGAT2	11	75442258	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	125399	75442258	59564258	12079	14225											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	127					0	0	1	0	0	C	75599929	T	C	75599929	2	2	22	1	0	0	0	0	0	0	0	1	17168	1683	59	3		3	UVRAG	11	75599929	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	157671	75599929	59406587	12080	14226											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000532130.1_5'UTR|UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000528420.1_Missense_Mutation_p.E223G|UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000539288.1_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													55	304					0	0	1	0	0	G	75718637	A	G	75718637	3	3	22	1	0	0	0	0	1	0	0	0	17168	304	11	3	1009	3	UVRAG	11	75718637	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	118708	75718637	59287879	12081	14227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000532130.1_Silent_p.R141R|UVRAG_ENST00000538870.1_Silent_p.R69R|UVRAG_ENST00000531818.1_Silent_p.R141R|UVRAG_ENST00000528420.1_Silent_p.R412R|UVRAG_ENST00000533454.1_Silent_p.R141R|UVRAG_ENST00000539288.1_Silent_p.R141R	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													33	389					0	0	1	0	0	G	75851896	A	G	75851896	2	3	22	1	0	0	0	0	0	0	0	1	17168	272	10	3		3	UVRAG	11	75851896	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	133259	75851896	59154620	12082	14228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	447					0	0	1	0	0	T	75907625	C	T	75907625	3	4	22	1	0	0	0	0	1	0	0	0	17444	768	27	1	859	1	WNT11	11	75907625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55729	75907625	59098891	12083	14229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	325					0	0	1	0	0	C	76063034	A	C	76063034	3	2	22	1	0	0	0	0	1	0	0	0	12578	43	2	3	1129	3	PRKRIR	11	76063034	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	155409	76063034	58943482	12084	14230											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	580					0	0	1	0	0	T	76063238	C	T	76063238	3	4	22	1	0	0	0	0	1	0	0	0	12578	855	30	2	1333	2	PRKRIR	11	76063238	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	204	76063238	58943278	12085	14231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533248.1_Missense_Mutation_p.A130T|C11orf30_ENST00000525038.1_Missense_Mutation_p.A130T|C11orf30_ENST00000343878.3_Missense_Mutation_p.A116T|C11orf30_ENST00000525919.1_Missense_Mutation_p.A116T|C11orf30_ENST00000524767.1_Missense_Mutation_p.A130T|C11orf30_ENST00000524490.1_Missense_Mutation_p.A116T|C11orf30_ENST00000334736.3_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													71	334					0	0	1	0	0	A	76169327	G	A	76169327	3	1	22	1	0	0	0	0	1	0	0	0	1641	971	34	2	360	2	C11orf30	11	76169327	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106089	76169327	58837189	12086	14232											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533248.1_Missense_Mutation_p.S1121L|C11orf30_ENST00000525038.1_Missense_Mutation_p.S1213L|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000525919.1_Missense_Mutation_p.S1213L|C11orf30_ENST00000524767.1_Missense_Mutation_p.S1227L|C11orf30_ENST00000524490.1_Missense_Mutation_p.S1114L|C11orf30_ENST00000334736.3_Missense_Mutation_p.S1212L			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													81	336					0	0	1	0	0	T	76257202	C	T	76257202	3	4	22	1	0	0	0	0	1	0	0	0	1641	893	31	1	3709	1	C11orf30	11	76257202	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87875	76257202	58749314	12087	14233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000421061.1_Missense_Mutation_p.R154H|B3GNT6_ENST00000354301.5_Missense_Mutation_p.R243H			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													20	67					0	0	1	0	0	A	76751323	G	A	76751323	3	1	22	1	0	0	0	0	1	0	0	0	1259	1087	38	1	730	1	B3GNT6	11	76751323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	494121	76751323	58255193	12088	14234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000531028.1_Missense_Mutation_p.D37N|CAPN5_ENST00000456580.2_Missense_Mutation_p.D37N|CAPN5_ENST00000529629.1_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													55	217					0	0	1	0	0	A	76796041	G	A	76796041	3	1	22	1	0	0	0	0	1	0	0	0	2647	1058	37	1	111	1	CAPN5	11	76796041	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44718	76796041	58210475	12089	14235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_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													63	210					2.32099e-22	2.62577e-22	1	1	0	A	76814037	C	A	76814037	3	1	22	1	0	0	0	0	1	0	0	0	10915	913	32	2	154	2	OMP	11	76814037	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17996	76814037	58192479	12090	14236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Missense_Mutation_p.R264Q|CAPN5_ENST00000529629.1_Missense_Mutation_p.R224Q	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)	202	997					0	0	1	0	0	A	76825452	G	A	76825452	3	1	22	1	0	0	0	0	1	0	0	0	2647	1116	39	1	685	1	CAPN5	11	76825452	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11415	76825452	58181064	12091	14237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000458637.2_Missense_Mutation_p.A304T|MYO7A_ENST00000409619.2_Missense_Mutation_p.A293T|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													40	137					0	0	1	0	0	A	76869383	G	A	76869383	3	1	22	1	0	0	0	0	1	0	0	0	10130	1087	38	1	940	1	MYO7A	11	76869383	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43931	76869383	58137133	12092	14238											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000458637.2_Missense_Mutation_p.E339K|MYO7A_ENST00000409619.2_Missense_Mutation_p.E328K|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													35	271					0	0	1	0	0	A	76870504	G	A	76870504	3	1	22	1	0	0	0	0	1	0	0	0	10130	1291	45	2	1049	2	MYO7A	11	76870504	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1121	76870504	58136012	12093	14239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000458637.2_Missense_Mutation_p.R866C|MYO7A_ENST00000409619.2_Missense_Mutation_p.R855C|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													5	100					0	0	1	0	0	T	76891429	C	T	76891429	3	4	22	1	0	0	0	0	1	0	0	0	10130	768	27	1	2678	1	MYO7A	11	76891429	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20925	76891429	58115087	12094	14240											
MYO7A	4647	broad.mit.edu	37	chr11	76909559	76909559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccagtctccccaagaaCgacgtcatcgtggccgtcaa	10	16	3	1	rs56174006		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76909559C>T	ENST00000409709.3	+	34	4733	c.4461C>T	c.(4459-4461)aaC>aaT	p.N1487N	MYO7A_ENST00000458637.2_Silent_p.N1487N|MYO7A_ENST00000409619.2_Silent_p.N1476N	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1487	FERM 1.				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						TCCCCAAGAACGACGTCATCG	0.607													42	191					0	0	1	0	0	T	76909559	C	T	76909559	2	4	22	1	0	0	0	0	0	0	0	1	10130	535	19	1		1	MYO7A	11	76909559	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18130	76909559	58096957	12095	14241											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000458637.2_Missense_Mutation_p.G1592R|MYO7A_ENST00000409619.2_Missense_Mutation_p.G1581R	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													32	125					0	0	1	0	0	A	76912528	G	A	76912528	3	1	22	1	0	0	0	0	1	0	0	0	10130	1233	43	2	5060	2	MYO7A	11	76912528	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2969	76912528	58093988	12096	14242											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000458637.2_Silent_p.T1626T|MYO7A_ENST00000409619.2_Silent_p.T1615T	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													37	184					0	0	1	0	0	T	76912632	C	T	76912632	2	4	22	1	0	0	0	0	0	0	0	1	10130	639	23	1		1	MYO7A	11	76912632	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104	76912632	58093884	12097	14243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	710					0	0	1	0	0	A	76969510	G	A	76969510	3	1	22	1	0	0	0	0	1	0	0	0	6368	942	33	2	805	2	GDPD4	11	76969510	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56878	76969510	58037006	12098	14244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525931.1_5'UTR|INTS4_ENST00000529807.1_Missense_Mutation_p.Q403H	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													21	81					1.10513e-12	1.18868e-12	1	1	0	A	77639550	C	A	77639550	3	1	22	1	0	0	0	0	1	0	0	0	7824	564	20	2	1734	2	INTS4	11	77639550	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	670040	77639550	57366966	12099	14245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	596					0	0	1	0	0	T	77705641	C	T	77705641	3	4	22	1	0	0	0	0	1	0	0	0	7824	507	18	2	2934	2	INTS4	11	77705641	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66091	77705641	57300875	12100	14246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526425.1_Missense_Mutation_p.A330T|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Missense_Mutation_p.A185T|USP35_ENST00000530267.1_Missense_Mutation_p.A167T	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													29	645					0	0	1	0	0	A	77920696	G	A	77920696	3	1	22	1	0	0	0	0	1	0	0	0	17126	1087	38	1	1829	1	USP35	11	77920696	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215055	77920696	57085820	12101	14247											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526425.1_Missense_Mutation_p.D647Y|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Missense_Mutation_p.D502Y|USP35_ENST00000530267.1_Missense_Mutation_p.D484Y	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													159	599					3.57155e-81	4.56959e-81	1	1	0	T	77921647	G	T	77921647	3	4	22	1	0	0	0	0	1	0	0	0	17126	1174	41	2	2780	2	USP35	11	77921647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	951	77921647	57084869	12102	14248											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526425.1_Missense_Mutation_p.V748I|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Missense_Mutation_p.V603I|USP35_ENST00000530267.1_Missense_Mutation_p.V585I	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													45	216					0	0	1	0	0	A	77924851	G	A	77924851	3	1	22	1	0	0	0	0	1	0	0	0	17126	1261	44	2	3087	2	USP35	11	77924851	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3204	77924851	57081665	12103	14249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	288					0	0	1	0	0	A	77931441	G	A	77931441	3	1	22	1	0	0	0	0	1	0	0	0	6184	1203	42	2	227	2	GAB2	11	77931441	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6590	77931441	57075075	12104	14250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	473					0	0	1	0	0	A	77937523	G	A	77937523	4	1	22	1	0	0	0	0	0	1	0	0	6184	1124	39	1	863	1	GAB2	11	77937523	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6082	77937523	57068993	12105	14251											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	310					0	0	1	0	0	A	78277273	G	A	78277273	4	1	22	1	0	0	0	0	0	1	0	0	10219	1095	38	1	1059	1	NARS2	11	78277273	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	339750	78277273	56729243	12106	14252											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	101					0	0	1	0	0	T	82444612	C	T	82444612	3	4	22	1	0	0	0	0	1	0	0	0	5540	797	28	2	1124	2	FAM181B	11	82444612	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4167339	82444612	52561904	12107	14253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	84					0	0	1	0	0	T	82444633	C	T	82444633	3	4	22	1	0	0	0	0	1	0	0	0	5540	739	26	2	1145	2	FAM181B	11	82444633	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21	82444633	52561883	12108	14254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	473					5.50669e-55	6.87845e-55	1	1	0	A	82561517	C	A	82561517	4	1	22	1	0	0	0	0	0	1	0	0	12501	922	32	2	1072	2	PRCP	11	82561517	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116884	82561517	52444999	12109	14255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525388.1_Missense_Mutation_p.A87V|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.A87V|C11orf82_ENST00000525361.1_Missense_Mutation_p.A87V|C11orf82_ENST00000528759.1_Intron|C11orf82_ENST00000524921.1_Missense_Mutation_p.A87V|C11orf82_ENST00000329143.3_Intron	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													64	317					0	0	1	0	0	T	82639965	C	T	82639965	3	4	22	1	0	0	0	0	1	0	0	0	1670	739	26	2	266	2	C11orf82	11	82639965	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78448	82639965	52366551	12110	14256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	190					0	0	1	0	0	T	82880369	C	T	82880369	3	4	22	1	0	0	0	0	1	0	0	0	11620	623	22	2	3022	2	PCF11	11	82880369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	240404	82880369	52126147	12111	14257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525504.1_5'UTR|CCDC90B_ENST00000529611.1_Missense_Mutation_p.D113G|CCDC90B_ENST00000455220.2_Missense_Mutation_p.D205G			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													60	301					0	0	1	0	0	C	82976975	T	C	82976975	3	2	22	1	0	0	0	0	1	0	0	0	2889	1667	58	3	131	3	CCDC90B	11	82976975	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96606	82976975	52029541	12112	14258											
DLG2	1740	broad.mit.edu	37	chr11	83641454	83641455	+	Translation_Start_Site	INS	-	-	T													agcttttgtcacactcaacaINSggggaatagtgcctgggaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:83641454_83641455insT	ENST00000376106.3	-	0	930_931				DLG2_ENST00000398301.2_Frame_Shift_Ins_p.R405fs|DLG2_ENST00000524982.1_Frame_Shift_Ins_p.R366fs|DLG2_ENST00000398309.2_Frame_Shift_Ins_p.R366fs|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000531015.1_Frame_Shift_Ins_p.R333fs|DLG2_ENST00000280241.8_Frame_Shift_Ins_p.R405fs|DLG2_ENST00000543673.1_Frame_Shift_Ins_p.R471fs|DLG2_ENST00000537455.1_Frame_Shift_Ins_p.R120fs|DLG2_ENST00000330014.6_Frame_Shift_Ins_p.R305fs|DLG2_ENST00000376104.2_Frame_Shift_Ins_p.R471fs|DLG2_ENST00000532653.1_Frame_Shift_Ins_p.R366fs			Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)							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													86	429	---	---	---	---						T	83641455	-	T	83641454	6	5	22	1	0	1	1	0	0	0	0	0	4583	175	7	0		0	DLG2	11	83641454	Translation_Start_Site	INS	-	TCGA-IB-7651-01A-11D-2154-08	664479	83641454	51365062	12113	14259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000532653.1_Silent_p.D22D|DLG2_ENST00000376104.2_Silent_p.D127D|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													141	600					0	0	1	0	0	A	84245751	G	A	84245751	2	1	22	1	0	0	0	0	0	0	0	1	4583	1136	40	1		1	DLG2	11	84245751	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	604297	84245751	50760765	12114	14260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000532653.1_Missense_Mutation_p.A8T|DLG2_ENST00000376104.2_Intron|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													40	218					0	0	1	0	0	T	84634141	C	T	84634141	3	4	22	1	0	0	0	0	1	0	0	0	4583	710	25	2	2841	2	DLG2	11	84634141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	388390	84634141	50372375	12115	14261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_Missense_Mutation_p.A69V|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													80	264					0	0	1	0	0	A	85375468	G	A	85375468	3	1	22	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	12116	14262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	475					0	0	1	0	0	A	85397127	G	A	85397127	3	1	22	1	0	0	0	0	1	0	0	0	2886	1261	44	2	1081	2	CCDC89	11	85397127	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21659	85397127	49609389	12117	14263											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527523.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.P616S|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.P616S|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													71	325					0	0	1	0	0	A	85435654	G	A	85435654	3	1	22	1	0	0	0	0	1	0	0	0	15540	1203	42	2	2024	2	SYTL2	11	85435654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38527	85435654	49570862	12118	14264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527523.1_Silent_p.S342S|SYTL2_ENST00000528231.1_Silent_p.S390S|SYTL2_ENST00000524452.1_Silent_p.S390S|SYTL2_ENST00000389960.4_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													112	452					0	0	1	0	0	T	85445199	C	T	85445199	2	4	22	1	0	0	0	0	0	0	0	1	15540	755	27	1		1	SYTL2	11	85445199	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9545	85445199	49561317	12119	14265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393346.3_Silent_p.T624T|PICALM_ENST00000532317.1_Silent_p.T582T|PICALM_ENST00000356360.5_Silent_p.T604T|PICALM_ENST00000528398.1_Silent_p.T523T	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, "								17	459					0	0	1	0	0	T	85685823	C	T	85685823	2	4	22	1	0	0	0	0	0	0	0	1	11928	755	27	1		1	PICALM	11	85685823	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	240624	85685823	49320693	12120	14266											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85733411C>A	ENST00000526033.1	-	4	767	c.452_splice	c.e4+1	p.G151_splice	PICALM_ENST00000393346.3_Splice_Site_p.G151_splice|PICALM_ENST00000532317.1_Splice_Site_p.G151_splice|PICALM_ENST00000356360.5_Splice_Site_p.G151_splice|PICALM_ENST00000528398.1_Splice_Site_p.G100_splice	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, "								73	272					7.07328e-35	8.4269e-35	1	1	0	A	85733411	C	A	85733411	5	1	22	1	0	0	0	0	0	0	1	0	11928	695	24	2	1603	2	PICALM	11	85733411	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47588	85733411	49273105	12121	14267											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000327320.4_Silent_p.C150C|EED_ENST00000528180.1_Silent_p.C150C|EED_ENST00000351625.6_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													70	244					0	0	1	0	0	C	85967452	T	C	85967452	2	2	22	1	0	0	0	0	0	0	0	1	4948	1702	59	3		3	EED	11	85967452	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	234041	85967452	49039064	12122	14268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000327320.4_Missense_Mutation_p.K335Q|EED_ENST00000528180.1_Missense_Mutation_p.K255Q|EED_ENST00000527888.1_5'UTR|EED_ENST00000351625.6_Missense_Mutation_p.K360Q	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													12	278					0	0	1	0	0	C	85988058	A	C	85988058	3	2	22	1	0	0	0	0	1	0	0	0	4948	131	5	3	1041	3	EED	11	85988058	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20606	85988058	49018458	12123	14269											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000327320.4_Missense_Mutation_p.I363V|EED_ENST00000528180.1_Missense_Mutation_p.I283V|EED_ENST00000527888.1_Missense_Mutation_p.I28V|EED_ENST00000351625.6_Missense_Mutation_p.I388V	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													101	444					0	0	1	0	0	G	85988142	A	G	85988142	3	3	22	1	0	0	0	0	1	0	0	0	4948	217	8	3	1125	3	EED	11	85988142	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	84	85988142	49018374	12124	14270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	459					0	0	1	0	0	A	86518792	G	A	86518792	3	1	22	1	0	0	0	0	1	0	0	0	12669	1087	38	1	109	1	PRSS23	11	86518792	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	530650	86518792	48487724	12125	14271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	157					0	0	1	0	0	A	86519307	G	A	86519307	3	1	22	1	0	0	0	0	1	0	0	0	12669	1058	37	1	624	1	PRSS23	11	86519307	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	515	86519307	48487209	12126	14272											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	405					5.50884e-06	5.65664e-06	1	1	0	T	86519669	G	T	86519669	3	4	22	1	0	0	0	0	1	0	0	0	12669	962	34	2	986	2	PRSS23	11	86519669	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	362	86519669	48486847	12127	14273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535167.1_Missense_Mutation_p.R80K|TMEM135_ENST00000305494.5_Missense_Mutation_p.R219K|TMEM135_ENST00000532959.1_Missense_Mutation_p.R90K	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													115	412					0	0	1	0	0	A	87013442	G	A	87013442	3	1	22	1	0	0	0	0	1	0	0	0	16111	942	33	2	686	2	TMEM135	11	87013442	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	493773	87013442	47993074	12128	14274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	182					0	0	1	0	0	A	87908434	G	A	87908434	3	1	22	1	0	0	0	0	1	0	0	0	12980	1203	42	2	528	2	RAB38	11	87908434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	894992	87908434	47098082	12129	14275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393297.1_Intron|GRM5_ENST00000305447.4_Missense_Mutation_p.A963T|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000455756.2_Missense_Mutation_p.A931T			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													35	156					0	0	1	0	0	T	88242512	C	T	88242512	3	4	22	1	0	0	0	0	1	0	0	0	6841	768	27	1	755	1	GRM5	11	88242512	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	334078	88242512	46764004	12130	14276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393297.1_Silent_p.N832N|GRM5_ENST00000305447.4_Silent_p.N832N|GRM5_ENST00000455756.2_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													74	285					0	0	1	0	0	A	88300355	G	A	88300355	2	1	22	1	0	0	0	0	0	0	0	1	6841	1136	40	1		1	GRM5	11	88300355	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57843	88300355	46706161	12131	14277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393297.1_Missense_Mutation_p.C803W|GRM5_ENST00000305447.4_Missense_Mutation_p.C803W|GRM5_ENST00000455756.2_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													89	399					0	0	1	0	0	C	88300442	A	C	88300442	3	2	22	1	0	0	0	0	1	0	0	0	6841	41	2	3	1241	3	GRM5	11	88300442	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	87	88300442	46706074	12132	14278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393297.1_Missense_Mutation_p.F596S|GRM5_ENST00000305447.4_Missense_Mutation_p.F596S|GRM5_ENST00000455756.2_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													10	221					0	0	1	0	0	G	88301064	A	G	88301064	3	3	22	1	0	0	0	0	1	0	0	0	6841	14	1	3	1863	3	GRM5	11	88301064	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	622	88301064	46705452	12133	14279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393297.1_Missense_Mutation_p.L344F|GRM5_ENST00000305447.4_Missense_Mutation_p.L344F|GRM5_ENST00000455756.2_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													65	304					0	0	1	0	0	A	88386453	G	A	88386453	3	1	22	1	0	0	0	0	1	0	0	0	6841	971	34	2	2636	2	GRM5	11	88386453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85389	88386453	46620063	12134	14280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393294.3_Missense_Mutation_p.S153Y|GRM5_ENST00000305432.5_Missense_Mutation_p.S153Y|GRM5_ENST00000393297.1_Missense_Mutation_p.S153Y|GRM5_ENST00000305447.4_Missense_Mutation_p.S153Y|GRM5_ENST00000455756.2_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													29	284					3.65163e-15	3.98403e-15	1	1	0	T	88780583	G	T	88780583	3	4	22	1	0	0	0	0	1	0	0	0	6841	942	33	2	3216	2	GRM5	11	88780583	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	394130	88780583	46225933	12135	14281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	789					0	0	1	0	0	G	88924508	T	G	88924508	3	3	22	1	0	0	0	0	1	0	0	0	16875	1493	52	3	964	3	TYR	11	88924508	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	143925	88924508	46082008	12136	14282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													139	570					2.78246e-50	3.44754e-50	1	1	0	T	88924572	G	T	88924572	3	4	22	1	0	0	0	0	1	0	0	0	16875	942	33	2	1028	2	TYR	11	88924572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64	88924572	46081944	12137	14283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	260					0	0	1	0	0	A	89017970	G	A	89017970	3	1	22	1	0	0	0	0	1	0	0	0	16875	1145	40	1	1228	1	TYR	11	89017970	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93398	89017970	45988546	12138	14284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	141					0	0	1	0	0	A	89028501	G	A	89028501	2	1	22	1	0	0	0	0	0	0	0	1	16875	991	35	2		2	TYR	11	89028501	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10531	89028501	45978015	12139	14285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528341.1_Missense_Mutation_p.P319L|NOX4_ENST00000527626.1_Missense_Mutation_p.P178L|NOX4_ENST00000263317.4_Missense_Mutation_p.P344L|NOX4_ENST00000542487.1_Missense_Mutation_p.P320L|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000413594.2_Missense_Mutation_p.P365L|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000532825.1_Missense_Mutation_p.P320L|NOX4_ENST00000527956.1_Missense_Mutation_p.P320L|NOX4_ENST00000534731.1_Missense_Mutation_p.P344L|NOX4_ENST00000343727.5_Missense_Mutation_p.P320L|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000424319.1_Missense_Mutation_p.P320L	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													46	207					0	0	1	0	0	A	89133228	G	A	89133228	3	1	22	1	0	0	0	0	1	0	0	0	10605	1232	43	2	737	2	NOX4	11	89133228	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104727	89133228	45873288	12140	14286											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	303					6.88731e-43	8.39682e-43	1	1	0	A	89385740	C	A	89385740	1	1	22	0	1	0	0	0	0	0	0	0	6013	812	28	2		2	FOLH1B	11	89385740	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	252512	89385740	45620776	12141	14287											
FOLH1B	219595	broad.mit.edu	37	chr11	89407177	89407177	+	RNA	DEL	C	C	-													tcaatgacttttttttttttCcccaatctgggcttggtagt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89407177delC	ENST00000532352.1	+	0	1114							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						TTTTTTTTTTCCCCAATCTGG	0.303													9	161	---	---	---	---						-	89407177	C	-	89407177	6	5	22	0	1	1	0	1	0	0	0	0	6013	870	30	0		0	FOLH1B	11	89407177	RNA	DEL	C	TCGA-IB-7651-01A-11D-2154-08	21437	89407177	45599339	12142	14288											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	187					0	0	1	0	0	T	89424667	C	T	89424667	1	4	22	0	1	0	0	0	0	0	0	0	6013	767	27	1		1	FOLH1B	11	89424667	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17490	89424667	45581849	12143	14289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	327					0	0	1	0	0	A	89537566	G	A	89537566	2	1	22	1	0	0	0	0	0	0	0	1	16585	1252	44	2		2	TRIM49	11	89537566	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112899	89537566	45468950	12144	14290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	206					0	0	1	0	0	C	89868815	T	C	89868815	2	2	22	1	0	0	0	0	0	0	0	1	10176	1567	55	3		3	NAALAD2	11	89868815	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	331249	89868815	45137701	12145	14291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	457					0	0	1	0	0	G	89882186	T	G	89882186	3	3	22	1	0	0	0	0	1	0	0	0	10176	1435	50	3	408	3	NAALAD2	11	89882186	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13371	89882186	45124330	12146	14292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	364					0	0	1	0	0	G	89903276	A	G	89903276	3	3	22	1	0	0	0	0	1	0	0	0	10176	391	14	3	1432	3	NAALAD2	11	89903276	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21090	89903276	45103240	12147	14293											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541502.1_Missense_Mutation_p.Q179R|FAT3_ENST00000525166.1_Missense_Mutation_p.Q29R|FAT3_ENST00000409404.2_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)			52	227					0	0	1	0	0	G	92085814	A	G	92085814	3	3	22	1	0	0	0	0	1	0	0	0	5724	188	7	3	538	3	FAT3	11	92085814	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2182538	92085814	42920702	12148	14294											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541502.1_Missense_Mutation_p.R1017W|FAT3_ENST00000525166.1_Missense_Mutation_p.R867W|FAT3_ENST00000409404.2_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)			9	175					0	0	1	0	0	T	92088327	C	T	92088327	3	4	22	1	0	0	0	0	1	0	0	0	5724	759	27	1	3051	1	FAT3	11	92088327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2513	92088327	42918189	12149	14295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541502.1_Missense_Mutation_p.N1191D|FAT3_ENST00000525166.1_Missense_Mutation_p.N1041D|FAT3_ENST00000409404.2_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)			39	174					0	0	1	0	0	G	92258078	A	G	92258078	3	3	22	1	0	0	0	0	1	0	0	0	5724	14	1	3	3577	3	FAT3	11	92258078	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	169751	92258078	42748438	12150	14296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525166.1_Missense_Mutation_p.A1603D|FAT3_ENST00000409404.2_Missense_Mutation_p.A1753D			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)			10	227					3.07112e-06	3.16074e-06	1	1	0	A	92531437	C	A	92531437	3	1	22	1	0	0	0	0	1	0	0	0	5724	797	28	2	5292	2	FAT3	11	92531437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	273359	92531437	42475079	12151	14297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525166.1_Missense_Mutation_p.D2392N|FAT3_ENST00000409404.2_Missense_Mutation_p.D2542N			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)			29	107					0	0	1	0	0	A	92533803	G	A	92533803	3	1	22	1	0	0	0	0	1	0	0	0	5724	1174	41	2	7658	2	FAT3	11	92533803	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2366	92533803	42472713	12152	14298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525166.1_Silent_p.P2477P|FAT3_ENST00000409404.2_Silent_p.P2627P			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)			16	84					0	0	1	0	0	T	92534060	C	T	92534060	2	4	22	1	0	0	0	0	0	0	0	1	5724	639	23	1		1	FAT3	11	92534060	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257	92534060	42472456	12153	14299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525166.1_Silent_p.L2549L|FAT3_ENST00000409404.2_Silent_p.L2699L			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)			28	165					0	0	1	0	0	A	92534276	G	A	92534276	2	1	22	1	0	0	0	0	0	0	0	1	5724	1310	46	2		2	FAT3	11	92534276	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	216	92534276	42472240	12154	14300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525166.1_Missense_Mutation_p.F2554V|FAT3_ENST00000409404.2_Missense_Mutation_p.F2704V			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)			32	172					0	0	1	0	0	G	92534289	T	G	92534289	3	3	22	1	0	0	0	0	1	0	0	0	5724	1725	60	3	8144	3	FAT3	11	92534289	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13	92534289	42472227	12155	14301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525166.1_Silent_p.V3382V|FAT3_ENST00000409404.2_Silent_p.V3532V			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)			183	804					0	0	1	0	0	G	92577129	T	G	92577129	2	3	22	1	0	0	0	0	0	0	0	1	5724	1828	64	3		3	FAT3	11	92577129	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42840	92577129	42429387	12156	14302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	112					0	0	1	0	0	T	92702921	C	T	92702921	2	4	22	1	0	0	0	0	0	0	0	1	10000	805	28	2		2	MTNR1B	11	92702921	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125792	92702921	42303595	12157	14303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	297					0	0	1	0	0	T	92901261	C	T	92901261	3	4	22	1	0	0	0	0	1	0	0	0	14651	565	20	2	917	2	SLC36A4	11	92901261	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198340	92901261	42105255	12158	14304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													142	533					0	0	1	0	0	A	92917667	G	A	92917667	3	1	22	1	0	0	0	0	1	0	0	0	14651	1319	46	2	1351	2	SLC36A4	11	92917667	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16406	92917667	42088849	12159	14305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	616					2.12867e-53	2.65328e-53	1	1	0	A	93471348	C	A	93471348	3	1	22	1	0	0	0	0	1	0	0	0	15579	913	32	2	466	2	TAF1D	11	93471348	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	553681	93471348	41535168	12160	14306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354421.3_Silent_p.L105L|C11orf54_ENST00000331239.4_Silent_p.L105L|C11orf54_ENST00000528099.1_Silent_p.L105L|C11orf54_ENST00000540113.1_Silent_p.L86L	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													108	532					0	0	1	0	0	T	93487188	C	T	93487188	2	4	22	1	0	0	0	0	0	0	0	1	1654	871	31	1		1	C11orf54	11	93487188	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15840	93487188	41519328	12161	14307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	173					0	0	1	0	0	A	93526947	G	A	93526947	3	1	22	1	0	0	0	0	1	0	0	0	9485	1058	37	1	705	1	MED17	11	93526947	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39759	93526947	41479569	12162	14308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93529577C>T	ENST00000251871.3	+	7	1301	c.1012_splice	c.e7-1	p.S338_splice	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													69	380					0	0	1	0	0	T	93529577	C	T	93529577	5	4	22	1	0	0	0	0	0	0	1	0	9485	811	28	2	1040	2	MED17	11	93529577	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2630	93529577	41476939	12163	14309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	311					0	0	1	0	0	T	93540697	C	T	93540697	4	4	22	1	0	0	0	0	0	1	0	0	9485	711	25	2	1518	2	MED17	11	93540697	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11120	93540697	41465819	12164	14310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	96					0	0	1	0	0	T	93808358	C	T	93808358	3	4	22	1	0	0	0	0	1	0	0	0	7096	768	27	1	1557	1	HEPHL1	11	93808358	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	267661	93808358	41198158	12165	14311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	116					0	0	1	0	0	A	93815642	G	A	93815642	3	1	22	1	0	0	0	0	1	0	0	0	7096	942	33	2	1813	2	HEPHL1	11	93815642	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7284	93815642	41190874	12166	14312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													119	665					0	0	1	0	0	T	93826709	C	T	93826709	2	4	22	1	0	0	0	0	0	0	0	1	7096	784	28	2		2	HEPHL1	11	93826709	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11067	93826709	41179807	12167	14313											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393241.4_Missense_Mutation_p.D498N|MRE11A_ENST00000407439.3_Missense_Mutation_p.D501N	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				60	309					0	0	1	0	0	T	94192582	C	T	94192582	3	4	22	1	0	0	0	0	1	0	0	0	9808	884	31	1	666	1	MRE11A	11	94192582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	365873	94192582	40813934	12168	14314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000302755.4_Missense_Mutation_p.L174F|ANKRD49_ENST00000544253.1_3'UTR|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													58	271					0	0	1	0	0	T	94231498	C	T	94231498	3	4	22	1	0	0	0	0	1	0	0	0	669	681	24	2	526	2	ANKRD49	11	94231498	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38916	94231498	40775018	12169	14315											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	193					6.03219e-31	7.08931e-31	1	1	0	T	94278557	G	T	94278557	3	4	22	1	0	0	0	0	1	0	0	0	6141	1174	41	2	1260	2	FUT4	11	94278557	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47059	94278557	40727959	12170	14316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_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													34	227					2.68265e-12	2.87809e-12	1	1	0	A	94310447	C	A	94310447	3	1	22	1	0	0	0	0	1	0	0	0	12008	855	30	2	316	2	PIWIL4	11	94310447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31890	94310447	40696069	12171	14317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000317829.8_Missense_Mutation_p.S212I|AMOTL1_ENST00000317837.9_Missense_Mutation_p.S262I	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													62	279					1.61742e-36	1.93684e-36	1	1	0	T	94533141	G	T	94533141	3	4	22	1	0	0	0	0	1	0	0	0	579	971	34	2	795	2	AMOTL1	11	94533141	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222694	94533141	40473375	12172	14318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317829.8_Silent_p.P371P|AMOTL1_ENST00000317837.9_Intron	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													43	182					0	0	1	0	0	A	94554837	G	A	94554837	2	1	22	1	0	0	0	0	0	0	0	1	579	1074	38	1		1	AMOTL1	11	94554837	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21696	94554837	40451679	12173	14319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000317829.8_Silent_p.A833A|AMOTL1_ENST00000317837.9_Silent_p.A470A	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													11	84					0	0	1	0	0	T	94602523	C	T	94602523	2	4	22	1	0	0	0	0	0	0	0	1	579	639	23	1		1	AMOTL1	11	94602523	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47686	94602523	40403993	12174	14320											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	186					0	0	1	0	0	A	94731619	G	A	94731619	2	1	22	1	0	0	0	0	0	0	0	1	8175	933	33	2		2	KDM4D	11	94731619	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129096	94731619	40274897	12175	14321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	315					0	0	1	0	0	G	94731922	T	G	94731922	2	3	22	1	0	0	0	0	0	0	0	1	8175	1538	54	3		3	KDM4D	11	94731922	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	303	94731922	40274594	12176	14322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	185					2.35958e-20	2.64308e-20	1	1	0	A	94732006	C	A	94732006	2	1	22	1	0	0	0	0	0	0	0	1	8175	610	22	2		2	KDM4D	11	94732006	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84	94732006	40274510	12177	14323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SESN3_ENST00000278499.2_Missense_Mutation_p.T309A|RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA	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													70	322					0	0	1	0	0	C	94908712	T	C	94908712	3	2	22	1	0	0	0	0	1	0	0	0	14180	1638	57	3	144	3	SESN3	11	94908712	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	176706	94908712	40097804	12178	14324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SESN3_ENST00000278499.2_Missense_Mutation_p.R20H|SESN3_ENST00000416495.2_Missense_Mutation_p.R98H|SESN3_ENST00000393234.1_Missense_Mutation_p.R98H|RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA	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													117	494					0	0	1	0	0	T	94924617	C	T	94924617	3	4	22	1	0	0	0	0	1	0	0	0	14180	768	27	1	1217	1	SESN3	11	94924617	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15905	94924617	40081899	12179	14325											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SESN3_ENST00000278499.2_5'UTR|SESN3_ENST00000416495.2_Silent_p.R58R|SESN3_ENST00000393234.1_Silent_p.R58R|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000537480.1_5'UTR|RP11-712B9.2_ENST00000534864.1_RNA	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													61	279					0	0	1	0	0	G	94924736	A	G	94924736	2	3	22	1	0	0	0	0	0	0	0	1	14180	378	14	3		3	SESN3	11	94924736	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	119	94924736	40081780	12180	14326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	577					0	0	1	0	0	A	95519306	G	A	95519306	3	1	22	1	0	0	0	0	1	0	0	0	5657	1057	37	1	707	1	FAM76B	11	95519306	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	594570	95519306	39487210	12181	14327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537677.1_Intron|CEP57_ENST00000325486.5_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				14	91					0	0	1	0	0	G	95555146	T	G	95555146	4	3	22	1	0	0	0	0	0	0	0	0	3278	1711	59	3		3	CEP57	11	95555146	Nonstop_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35840	95555146	39451370	12182	14328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409459.1_Missense_Mutation_p.R223Q|MTMR2_ENST00000352297.7_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													20	614					0	0	1	0	0	T	95582947	C	T	95582947	3	4	22	1	0	0	0	0	1	0	0	0	9992	884	31	1	1075	1	MTMR2	11	95582947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27801	95582947	39423569	12183	14329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								8	289					0	0	1	0	0	A	95712362	G	A	95712362	3	1	22	1	0	0	0	0	1	0	0	0	9256	1145	40	1	253	1	MAML2	11	95712362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129415	95712362	39294154	12184	14330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								60	203					9.59835e-30	1.1228e-29	1	1	0	T	95713041	G	T	95713041	3	4	22	1	0	0	0	0	1	0	0	0	9256	1000	35	2	932	2	MAML2	11	95713041	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	679	95713041	39293475	12185	14331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								4	86					0	0	1	0	0	A	95825100	G	A	95825100	3	1	22	1	0	0	0	0	1	0	0	0	9256	1203	42	2	1391	2	MAML2	11	95825100	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112059	95825100	39181416	12186	14332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	403					0	0	1	0	0	T	96092228	C	T	96092228	3	4	22	1	0	0	0	0	1	0	0	0	2876	835	29	2	147	2	CCDC82	11	96092228	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	267128	96092228	38914288	12187	14333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	155					0	0	1	0	0	T	96098310	C	T	96098310	3	4	22	1	0	0	0	0	1	0	0	0	2876	884	31	1	432	1	CCDC82	11	96098310	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6082	96098310	38908206	12188	14334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	412					3.09899e-07	3.21319e-07	1	1	0	A	96117513	C	A	96117513	3	1	22	1	0	0	0	0	1	0	0	0	2876	680	24	2	1263	2	CCDC82	11	96117513	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19203	96117513	38889003	12189	14335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527185.1_Silent_p.A64A|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Silent_p.A64A|CNTN5_ENST00000528682.1_Silent_p.A64A	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													25	250					0	0	1	0	0	G	99690411	T	G	99690411	2	3	22	1	0	0	0	0	0	0	0	1	3667	1596	56	3		3	CNTN5	11	99690411	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3572898	99690411	35316105	12190	14336	92	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527185.1_Missense_Mutation_p.S65F|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Missense_Mutation_p.S65F|CNTN5_ENST00000528682.1_Missense_Mutation_p.S65F	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													20	246					0	0	1	0	0	T	99690413	C	T	99690413	3	4	22	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	12191	14337	92	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527185.1_Missense_Mutation_p.T311A|CNTN5_ENST00000418526.2_Missense_Mutation_p.T237A|CNTN5_ENST00000279463.3_Missense_Mutation_p.T311A|CNTN5_ENST00000528682.1_Missense_Mutation_p.T311A	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													13	63					0	0	1	0	0	G	99872819	A	G	99872819	3	3	22	1	0	0	0	0	1	0	0	0	3667	391	14	3	957	3	CNTN5	11	99872819	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	182406	99872819	35133697	12192	14338											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534013.1_5'UTR|PGR_ENST00000263463.5_Missense_Mutation_p.Q556H	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	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													42	129					0	0	1	0	0	G	100996859	T	G	100996859	3	3	22	1	0	0	0	0	1	0	0	0	11853	1490	52	3	1161	3	PGR	11	100996859	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1124040	100996859	34009657	12193	14339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Silent_p.P383P	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	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													35	191					0	0	1	0	0	A	100998653	G	A	100998653	2	1	22	1	0	0	0	0	0	0	0	1	11853	1103	39	1		1	PGR	11	100998653	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1794	100998653	34007863	12194	14340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.R319C	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	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													37	166					0	0	1	0	0	A	100998847	G	A	100998847	3	1	22	1	0	0	0	0	1	0	0	0	11853	1116	39	1	1878	1	PGR	11	100998847	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194	100998847	34007669	12195	14341											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.A218V	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	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													35	147					0	0	1	0	0	A	100999149	G	A	100999149	3	1	22	1	0	0	0	0	1	0	0	0	11853	1087	38	1	2180	1	PGR	11	100999149	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302	100999149	34007367	12196	14342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360497.4_Missense_Mutation_p.P706S|TRPC6_ENST00000532133.1_Missense_Mutation_p.P683S|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													92	472					0	0	1	0	0	A	101342042	G	A	101342042	3	1	22	1	0	0	0	0	1	0	0	0	16644	1174	41	2	534	2	TRPC6	11	101342042	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	342893	101342042	33664474	12197	14343											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360497.4_Missense_Mutation_p.V651A|TRPC6_ENST00000532133.1_Missense_Mutation_p.V628A|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													58	313					0	0	1	0	0	G	101342956	A	G	101342956	3	3	22	1	0	0	0	0	1	0	0	0	16644	43	2	3	702	3	TRPC6	11	101342956	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	914	101342956	33663560	12198	14344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360497.4_Missense_Mutation_p.K387T|TRPC6_ENST00000532133.1_Missense_Mutation_p.K442T|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													37	227					0	0	1	0	0	G	101353865	T	G	101353865	3	3	22	1	0	0	0	0	1	0	0	0	16644	1609	56	3	1506	3	TRPC6	11	101353865	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10909	101353865	33652651	12199	14345											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360497.4_Missense_Mutation_p.E313K|TRPC6_ENST00000532133.1_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													116	546					0	0	1	0	0	T	101374763	C	T	101374763	3	4	22	1	0	0	0	0	1	0	0	0	16644	922	32	2	1906	2	TRPC6	11	101374763	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20898	101374763	33631753	12200	14346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	229					1.04682e-39	1.26644e-39	1	1	0	A	101951987	C	A	101951987	3	1	22	1	0	0	0	0	1	0	0	0	1664	913	32	2	554	2	C11orf70	11	101951987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	577224	101951987	33054529	12201	14347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526343.1_Silent_p.N223N|YAP1_ENST00000345877.2_Silent_p.N223N|YAP1_ENST00000524575.1_Silent_p.N45N|YAP1_ENST00000531439.1_Silent_p.N223N|YAP1_ENST00000537274.1_Silent_p.N223N	NM_001130145.2	NP_001123617.1	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													180	710					0	0	1	0	0	C	102033283	T	C	102033283	2	2	22	1	0	0	0	0	0	0	0	1	17526	1403	49	3		3	YAP1	11	102033283	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81296	102033283	32973233	12202	14348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000532672.1_Missense_Mutation_p.K61R|BIRC2_ENST00000527910.1_3'UTR|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													76	376					0	0	1	0	0	G	102220830	A	G	102220830	3	3	22	1	0	0	0	0	1	0	0	0	1434	14	1	3	247	3	BIRC2	11	102220830	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	187547	102220830	32785686	12203	14349											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	261					3.28884e-47	4.04649e-47	1	1	0	T	102394121	G	T	102394121	3	4	22	1	0	0	0	0	1	0	0	0	9716	991	35	2	186	2	MMP7	11	102394121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	173291	102394121	32612395	12204	14350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	249					0.0581538	0.0582741	1	1	0	A	102584189	C	A	102584189	5	1	22	1	0	0	0	0	0	0	1	0	9717	927	32	2	113	2	MMP8	11	102584189	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	190068	102584189	32422327	12205	14351											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													153	643					0	0	1	0	0	A	102595565	G	A	102595565	3	1	22	1	0	0	0	0	1	0	0	0	9717	1174	41	2	1421	2	MMP8	11	102595565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11376	102595565	32410951	12206	14352											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	408					5.41795e-27	6.26308e-27	1	1	0	A	102647433	C	A	102647433	3	1	22	1	0	0	0	0	1	0	0	0	9697	797	28	2	757	2	MMP10	11	102647433	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51868	102647433	32359083	12207	14353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	68					0	0	1	0	0	A	102733744	G	A	102733744	1	1	22	0	1	0	0	0	0	0	0	0	9699	1044	36	2		2	MMP12	11	102733744	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86311	102733744	32272772	12208	14354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	718					0	0	1	0	0	A	102820881	G	A	102820881	3	1	22	1	0	0	0	0	1	0	0	0	9700	1203	42	2	560	2	MMP13	11	102820881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87137	102820881	32185635	12209	14355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398093.3_Missense_Mutation_p.C34Y|DYNC2H1_ENST00000334267.7_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													29	150					0	0	1	0	0	A	102980404	G	A	102980404	3	1	22	1	0	0	0	0	1	0	0	0	4872	1319	46	2	103	2	DYNC2H1	11	102980404	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	159523	102980404	32026112	12210	14356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398093.3_Missense_Mutation_p.F2556C|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	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													17	68					0	0	1	0	0	G	103062952	T	G	103062952	3	3	22	1	0	0	0	0	1	0	0	0	4872	1841	64	3	7853	3	DYNC2H1	11	103062952	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	82548	103062952	31943564	12211	14357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398093.3_Missense_Mutation_p.N2915I|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	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													19	76					0	0	1	0	0	T	103086499	A	T	103086499	3	4	22	1	0	0	0	0	1	0	0	0	4872	43	2	5	8962	5	DYNC2H1	11	103086499	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23547	103086499	31920017	12212	14358											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398093.3_Missense_Mutation_p.R3081C|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	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													40	232					0	0	1	0	0	T	103093703	C	T	103093703	3	4	22	1	0	0	0	0	1	0	0	0	4872	768	27	1	9475	1	DYNC2H1	11	103093703	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7204	103093703	31912813	12213	14359											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398093.3_Missense_Mutation_p.R3692I|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	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													17	103					2.94398e-08	3.0722e-08	1	1	0	T	103158293	G	T	103158293	3	4	22	1	0	0	0	0	1	0	0	0	4872	942	33	2	11377	2	DYNC2H1	11	103158293	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64590	103158293	31848223	12214	14360											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398093.3_Missense_Mutation_p.L3947F|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	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													17	73					0	0	1	0	0	T	103191850	C	T	103191850	3	4	22	1	0	0	0	0	1	0	0	0	4872	913	32	2	12165	2	DYNC2H1	11	103191850	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33557	103191850	31814666	12215	14361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_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													185	768					0	0	1	0	0	T	103907738	C	T	103907738	3	4	22	1	0	0	0	0	1	0	0	0	4351	855	30	2	190	2	DDI1	11	103907738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	715888	103907738	31098778	12216	14362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_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													12	527					0	0	1	0	0	T	103908400	C	T	103908400	4	4	22	1	0	0	0	0	0	1	0	0	4351	644	23	1	852	1	DDI1	11	103908400	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	662	103908400	31098116	12217	14363											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	484					4.95557e-46	6.08382e-46	1	1	0	T	104820346	G	T	104820346	3	4	22	1	0	0	0	0	1	0	0	0	2691	1165	41	2	444	2	CASP4	11	104820346	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	911946	104820346	30186170	12218	14364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393150.3_Missense_Mutation_p.P34S|CASP4_ENST00000531333.1_Intron	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													62	250					0	0	1	0	0	A	104822727	G	A	104822727	3	1	22	1	0	0	0	0	1	0	0	0	2691	1174	41	2	889	2	CASP4	11	104822727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2381	104822727	30183789	12219	14365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260315.3_Missense_Mutation_p.A247T|CASP5_ENST00000418434.1_Missense_Mutation_p.A105T|CASP5_ENST00000531367.1_Missense_Mutation_p.A105T|CASP5_ENST00000444749.2_Missense_Mutation_p.A189T|CASP5_ENST00000526056.1_Missense_Mutation_p.A260T|CASP5_ENST00000393139.2_3'UTR	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													44	244					0	0	1	0	0	T	104871201	C	T	104871201	3	4	22	1	0	0	0	0	1	0	0	0	2692	739	26	2	581	2	CASP5	11	104871201	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48474	104871201	30135315	12220	14366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260315.3_Missense_Mutation_p.R193H|CASP5_ENST00000418434.1_Missense_Mutation_p.R51H|CASP5_ENST00000531367.1_Missense_Mutation_p.R51H|CASP5_ENST00000444749.2_Missense_Mutation_p.R135H|CASP5_ENST00000526056.1_Missense_Mutation_p.R206H|CASP5_ENST00000393139.2_Silent_p.T123T	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													88	445					0	0	1	0	0	T	104872894	C	T	104872894	3	4	22	1	0	0	0	0	1	0	0	0	2692	768	27	1	746	1	CASP5	11	104872894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1693	104872894	30133622	12221	14367											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260315.3_Missense_Mutation_p.S44Y|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000526056.1_Missense_Mutation_p.S57Y|CASP5_ENST00000393139.2_Missense_Mutation_p.S11Y	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													57	279					8.44121e-28	9.79253e-28	1	1	0	T	104879584	G	T	104879584	3	4	22	1	0	0	0	0	1	0	0	0	2692	942	33	2	1205	2	CASP5	11	104879584	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6690	104879584	30126932	12222	14368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534497.1_Silent_p.A191A|CASP1_ENST00000594519.1_Silent_p.A191A|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000593315.1_Silent_p.A263A|CASP1_ENST00000598974.1_Silent_p.A284A|CASP1_ENST00000393136.4_Silent_p.A263A|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000525825.1_Silent_p.A263A|CASP1_ENST00000446369.1_Silent_p.A191A|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000528974.1_Silent_p.A245A|CASP1_ENST00000526568.1_Silent_p.A191A|CASP1_ENST00000527979.1_Silent_p.A247A|CASP1_ENST00000436863.3_Silent_p.A284A	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													22	225					1.22574e-08	1.28258e-08	1	1	0	T	104900402	G	T	104900402	2	4	22	1	0	0	0	0	0	0	0	1	2686	987	35	2		2	CASP1	11	104900402	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20818	104900402	30106114	12223	14369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000598974.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_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													60	601					0	0	1	0	0	G	104971328	A	G	104971328	2	3	22	1	0	0	0	0	0	0	0	1	2666	242	9	3		3	CARD17	11	104971328	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	70926	104971328	30035188	12224	14370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000530497.1_Missense_Mutation_p.A668D|GRIA4_ENST00000525187.1_Missense_Mutation_p.A668D|GRIA4_ENST00000282499.5_Missense_Mutation_p.A668D	NM_001077243.2	NP_001070711.2	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													25	265					7.33532e-06	7.53121e-06	1	1	0	A	105797622	C	A	105797622	3	1	22	1	0	0	0	0	1	0	0	0	6811	739	26	2	2086	2	GRIA4	11	105797622	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	826294	105797622	29208894	12225	14371											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	145					0	0	1	0	0	C	105924236	T	C	105924236	3	2	22	1	0	0	0	0	1	0	0	0	8038	1725	60	3	662	3	KBTBD3	11	105924236	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	126614	105924236	29082280	12226	14372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105929591C>A	ENST00000526793.1	-	2	393		c.e2+1		KBTBD3_ENST00000531837.1_Splice_Site|KBTBD3_ENST00000534815.1_Intron|KBTBD3_ENST00000531482.2_Splice_Site	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													28	148					6.38683e-12	6.83756e-12	1	1	0	A	105929591	C	A	105929591	5	1	22	1	0	0	0	0	0	0	1	0	8038	521	18	2	1612	2	KBTBD3	11	105929591	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5355	105929591	29076925	12227	14373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	310					0	0	1	0	0	A	105950319	G	A	105950319	2	1	22	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	12228	14374											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	89					0	0	1	0	0	T	107309826	C	T	107309826	2	4	22	1	0	0	0	0	0	0	0	1	4095	871	31	1		1	CWF19L2	11	107309826	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1359507	107309826	27696690	12229	14375											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	44					7.48243e-07	7.73841e-07	1	1	0	A	107501173	C	A	107501173	4	1	22	1	0	0	0	0	0	1	0	0	5096	576	20	2	54	2	ELMOD1	11	107501173	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191347	107501173	27505343	12230	14376											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													129	558					0	0	1	0	0	T	107535879	C	T	107535879	2	4	22	1	0	0	0	0	0	0	0	1	5096	796	28	2		2	ELMOD1	11	107535879	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34706	107535879	27470637	12231	14377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107682519G>A	ENST00000525071.1	-	6	876	c.286_splice	c.e6-1	p.G96_splice	SLC35F2_ENST00000429869.1_Splice_Site_p.G96_splice|SLC35F2_ENST00000375682.4_Splice_Site_p.G49_splice|SLC35F2_ENST00000265836.7_5'UTR|SLC35F2_ENST00000525815.1_Splice_Site_p.G96_splice			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													87	421					0	0	1	0	0	A	107682519	G	A	107682519	5	1	22	1	0	0	0	0	0	0	1	0	14644	1333	46	2	860	2	SLC35F2	11	107682519	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146640	107682519	27323997	12232	14378											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	150					0	0	1	0	0	T	107923465	C	T	107923465	3	4	22	1	0	0	0	0	1	0	0	0	4082	478	17	2	508	2	CUL5	11	107923465	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	240946	107923465	27083051	12233	14379											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	604					0	0	1	0	0	T	108016987	C	T	108016987	3	4	22	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	12234	14380											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	336					0	0	1	0	0	A	108018094	G	A	108018094	3	1	22	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	12235	14381											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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		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													147	739					0	0	1	0	0	C	108042973	T	C	108042973	3	2	22	1	0	0	0	0	1	0	0	0	10613	1725	60	3	1569	3	NPAT	11	108042973	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24879	108042973	26963543	12236	14382											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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		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													54	333					0	0	1	0	0	A	108043568	G	A	108043568	3	1	22	1	0	0	0	0	1	0	0	0	10613	1232	43	2	2164	2	NPAT	11	108043568	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	595	108043568	26962948	12237	14383											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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		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													41	289					0	0	1	0	0	C	108044536	T	C	108044536	3	2	22	1	0	0	0	0	1	0	0	0	10613	1493	52	3	3132	3	NPAT	11	108044536	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	968	108044536	26961980	12238	14384											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000042.3	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)			36	173					3.93418e-24	4.48831e-24	1	1	0	A	108198454	C	A	108198454	3	1	22	1	0	0	0	0	1	0	0	0	1108	681	24	2	7244	2	ATM	11	108198454	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153918	108198454	26808062	12239	14385											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000042.3	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)			74	308					0	0	1	0	0	T	108201008	C	T	108201008	3	4	22	1	0	0	0	0	1	0	0	0	1108	884	31	1	7569	1	ATM	11	108201008	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2554	108201008	26805508	12240	14386											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000042.3	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)			134	603					0	0	1	0	0	G	108214019	T	G	108214019	3	3	22	1	0	0	0	0	1	0	0	0	1108	1609	56	3	8561	3	ATM	11	108214019	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13011	108214019	26792497	12241	14387											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000042.3	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)			92	523					0	0	1	0	0	T	108225552	C	T	108225552	3	4	22	1	0	0	0	0	1	0	0	0	1108	507	18	2	9039	2	ATM	11	108225552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11533	108225552	26780964	12242	14388											
KDELC2	143888	broad.mit.edu	37	chr11	108356977	108356977	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaacatggttattgagaatCgtgtaatgaacaatggcacc	9	6	0	2	rs145604569	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108356977C>T	ENST00000434945.2	-	2	725	c.423G>A	c.(421-423)acG>acA	p.T141T	KDELC2_ENST00000323468.5_Silent_p.T197T|KDELC2_ENST00000375648.1_Silent_p.T141T			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	197						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)		TATTGAGAATCGTGTAATGAA	0.398													94	435					0	0	1	0	0	T	108356977	C	T	108356977	2	4	22	1	0	0	0	0	0	0	0	1	8162	871	31	1		1	KDELC2	11	108356977	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131425	108356977	26649539	12243	14389											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525344.1_Missense_Mutation_p.A1356D|EXPH5_ENST00000443411.1_Missense_Mutation_p.A1175D|EXPH5_ENST00000428840.1_Missense_Mutation_p.A1287D	NM_015065.2	NP_055880.2	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													14	203					1.49906e-05	1.53515e-05	1	1	0	T	108382146	G	T	108382146	3	4	22	1	0	0	0	0	1	0	0	0	5350	971	34	2	1885	2	EXPH5	11	108382146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25169	108382146	26624370	12244	14390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525344.1_Silent_p.E1007E|EXPH5_ENST00000443411.1_Silent_p.E826E|EXPH5_ENST00000428840.1_Silent_p.E938E	NM_015065.2	NP_055880.2	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													67	283					0	0	1	0	0	C	108383192	T	C	108383192	2	2	22	1	0	0	0	0	0	0	0	1	5350	1722	60	3		3	EXPH5	11	108383192	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1046	108383192	26623324	12245	14391											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*								18	76					0	0	1	0	0	C	108586668	A	C	108586668	3	2	22	1	0	0	0	0	1	0	0	0	4365	130	5	3	1427	3	DDX10	11	108586668	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	203476	108586668	26419848	12246	14392											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*								39	175					5.71845e-15	6.23116e-15	1	1	0	A	108593877	C	A	108593877	4	1	22	1	0	0	0	0	0	1	0	0	4365	576	20	2	1703	2	DDX10	11	108593877	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7209	108593877	26412639	12247	14393											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*								63	258					0	0	1	0	0	G	108709201	A	G	108709201	3	3	22	1	0	0	0	0	1	0	0	0	4365	72	3	3	2048	3	DDX10	11	108709201	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	115324	108709201	26297315	12248	14394											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	224					3.5997e-14	3.90403e-14	1	1	0	T	109294503	G	T	109294503	2	4	22	1	0	0	0	0	0	0	0	1	1674	1074	38	4		4	C11orf87	11	109294503	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	585302	109294503	25712013	12249	14395											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528673.1_Silent_p.S22S|ZC3H12C_ENST00000453089.2_5'UTR	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													13	310					0	0	1	0	0	T	110007429	C	T	110007429	2	4	22	1	0	0	0	0	0	0	0	1	17622	709	25	2		2	ZC3H12C	11	110007429	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	712926	110007429	24999087	12250	14396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528673.1_Missense_Mutation_p.R719Q|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.R718Q			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													239	1018					0	0	1	0	0	A	110035963	G	A	110035963	3	1	22	1	0	0	0	0	1	0	0	0	17622	1116	39	1	2175	1	ZC3H12C	11	110035963	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28534	110035963	24970553	12251	14397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528498.1_Missense_Mutation_p.E301G|RDX_ENST00000405097.1_Missense_Mutation_p.E301G|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_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													66	314					0	0	1	0	0	C	110124728	T	C	110124728	3	2	22	1	0	0	0	0	1	0	0	0	13250	1783	62	3	873	3	RDX	11	110124728	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88765	110124728	24881788	12252	14398											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528498.1_Missense_Mutation_p.L216V|RDX_ENST00000405097.1_Missense_Mutation_p.L216V|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_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													111	451					0	0	1	0	0	C	110128544	A	C	110128544	3	2	22	1	0	0	0	0	1	0	0	0	13250	98	4	3	1137	3	RDX	11	110128544	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3816	110128544	24877972	12253	14399											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													205	892					0	0	1	0	0	G	110327671	A	G	110327671	3	3	22	1	0	0	0	0	1	0	0	0	5837	43	2	3	350	3	FDX1	11	110327671	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	199127	110327671	24678845	12254	14400											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528829.1_Missense_Mutation_p.G844V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.G844V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.G857V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.G854V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.G423V	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													168	637					1.32648e-55	1.65864e-55	1	1	0	A	110451031	C	A	110451031	3	1	22	1	0	0	0	0	1	0	0	0	867	855	30	2	940	2	ARHGAP20	11	110451031	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123360	110451031	24555485	12255	14401											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528829.1_Missense_Mutation_p.I481V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.I481V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.I494V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.I491V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.I60V	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													38	149					0	0	1	0	0	C	110454328	T	C	110454328	3	2	22	1	0	0	0	0	1	0	0	0	867	1406	49	3	2038	3	ARHGAP20	11	110454328	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3297	110454328	24552188	12256	14402											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528829.1_Silent_p.L51L|ARHGAP20_ENST00000527598.1_Silent_p.L51L|ARHGAP20_ENST00000524756.1_Silent_p.L64L|ARHGAP20_ENST00000357139.3_Silent_p.L61L	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													84	400					0	0	1	0	0	A	110501445	G	A	110501445	2	1	22	1	0	0	0	0	0	0	0	1	867	962	34	2		2	ARHGAP20	11	110501445	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47117	110501445	24505071	12257	14403											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000375618.4_Silent_p.R68R|C11orf88_ENST00000332814.6_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)	46	210					2.17126e-26	2.5019e-26	1	1	0	T	111385713	G	T	111385713	2	4	22	1	0	0	0	0	0	0	0	1	1675	1190	42	2		2	C11orf88	11	111385713	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	884268	111385713	23620803	12258	14404											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	222					1.47633e-17	1.63113e-17	1	1	0	A	111574013	C	A	111574013	3	1	22	1	0	0	0	0	1	0	0	0	14373	797	28	2	840	2	SIK2	11	111574013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	188300	111574013	23432503	12259	14405											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393055.2_Missense_Mutation_p.E361D|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.E327D|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.E424D|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.E443D|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.E488D	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													100	473					1.70349e-48	2.10302e-48	1	1	0	A	111614190	C	A	111614190	3	1	22	1	0	0	0	0	1	0	0	0	12432	564	20	2	580	2	PPP2R1B	11	111614190	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40177	111614190	23392326	12260	14406											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393055.2_Silent_p.I282I|PPP2R1B_ENST00000427203.2_Silent_p.I248I|PPP2R1B_ENST00000426998.2_Silent_p.I345I|PPP2R1B_ENST00000341980.6_Silent_p.I364I|PPP2R1B_ENST00000311129.5_Silent_p.I409I	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													104	410					0	0	1	0	0	A	111622994	G	A	111622994	2	1	22	1	0	0	0	0	0	0	0	1	12432	1164	41	2		2	PPP2R1B	11	111622994	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8804	111622994	23383522	12261	14407											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000524880.1_3'UTR|ALG9_ENST00000531154.1_Missense_Mutation_p.L210F	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													96	386					0	0	1	0	0	A	111711410	G	A	111711410	3	1	22	1	0	0	0	0	1	0	0	0	520	942	33	2	739	2	ALG9	11	111711410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88416	111711410	23295106	12262	14408											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000524880.1_3'UTR|ALG9_ENST00000531154.1_Silent_p.L85L	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													56	301					0	0	1	0	0	A	111724395	G	A	111724395	2	1	22	1	0	0	0	0	0	0	0	1	520	962	34	2		2	ALG9	11	111724395	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12985	111724395	23282121	12263	14409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000529270.1_Missense_Mutation_p.A60T|C11orf1_ENST00000528125.1_5'UTR	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													46	199					0	0	1	0	0	A	111753104	G	A	111753104	3	1	22	1	0	0	0	0	1	0	0	0	1633	1087	38	1	64	1	C11orf1	11	111753104	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28709	111753104	23253412	12264	14410											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000315253.5_Silent_p.S299S|DIXDC1_ENST00000389821.4_3'UTR	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													46	231					0	0	1	0	0	T	111866132	C	T	111866132	2	4	22	1	0	0	0	0	0	0	0	1	4569	767	27	1		1	DIXDC1	11	111866132	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113028	111866132	23140384	12265	14411											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000315253.5_Missense_Mutation_p.R312H|DIXDC1_ENST00000389821.4_3'UTR	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													53	271					0	0	1	0	0	A	111866170	G	A	111866170	3	1	22	1	0	0	0	0	1	0	0	0	4569	1087	38	1	1659	1	DIXDC1	11	111866170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38	111866170	23140346	12266	14412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	458					0	0	1	0	0	T	111899614	C	T	111899614	3	4	22	1	0	0	0	0	1	0	0	0	4577	893	31	1	619	1	DLAT	11	111899614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33444	111899614	23106902	12267	14413											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	1119					0	0	1	0	0	A	111910001	G	A	111910001	3	1	22	1	0	0	0	0	1	0	0	0	4577	971	34	2	1035	2	DLAT	11	111910001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10387	111910001	23096515	12268	14414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	153					0	0	1	0	0	T	111916599	C	T	111916599	4	4	22	1	0	0	0	0	0	1	0	0	4577	760	27	1	1341	1	DLAT	11	111916599	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6598	111916599	23089917	12269	14415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	167					0	0	1	0	0	A	111930659	G	A	111930659	3	1	22	1	0	0	0	0	1	0	0	0	4577	1029	36	2	1593	2	DLAT	11	111930659	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14060	111930659	23075857	12270	14416											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000280350.4_Missense_Mutation_p.H146Y|PIH1D2_ENST00000528775.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000532211.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000431456.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000521853.2_5'UTR			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													122	631					0	0	1	0	0	A	111941873	G	A	111941873	3	1	22	1	0	0	0	0	1	0	0	0	11955	1377	48	2	581	2	PIH1D2	11	111941873	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11214	111941873	23064643	12271	14417											
PIH1D2	120379	broad.mit.edu	37	chr11	111942466	111942467	+	Frame_Shift_Ins	INS	-	-	T													acacaggttgataaaaagtaINSttttttcttttggtttctgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111942466_111942467insT	ENST00000530641.1	-	3	518_519	c.193_194insA	c.(193-195)actfs	p.T65fs	PIH1D2_ENST00000280350.4_Frame_Shift_Ins_p.T65fs|PIH1D2_ENST00000532211.1_Frame_Shift_Ins_p.T65fs|PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000528775.1_Frame_Shift_Ins_p.T65fs|PIH1D2_ENST00000431456.1_Frame_Shift_Ins_p.T65fs			Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	65										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)		GATAAAAAGTATTTTTTCTTTT	0.426													7	340	---	---	---	---						T	111942467	-	T	111942466	7	5	22	1	0	1	1	0	0	0	0	0	11955	449	16	0	827	0	PIH1D2	11	111942466	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	593	111942466	23064050	12272	14418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438022.1_Missense_Mutation_p.A369T|BCO2_ENST00000526088.1_Missense_Mutation_p.A369T|BCO2_ENST00000532593.1_Missense_Mutation_p.A298T|BCO2_ENST00000393032.2_Missense_Mutation_p.A369T|BCO2_ENST00000361053.4_Missense_Mutation_p.A330T|BCO2_ENST00000531169.1_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													159	907					0	0	1	0	0	A	112084459	G	A	112084459	3	1	22	1	0	0	0	0	1	0	0	0	1383	971	34	2	1241	2	BCO2	11	112084459	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141993	112084459	22922057	12273	14419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.G99G|NCAM1_ENST00000533760.1_5'UTR	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													42	189					0	0	1	0	0	T	113075180	C	T	113075180	2	4	22	1	0	0	0	0	0	0	0	1	10249	755	27	1		1	NCAM1	11	113075180	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	990721	113075180	21931336	12274	14420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.Q418H|NCAM1_ENST00000533760.1_Missense_Mutation_p.Q291H	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													18	137					3.32936e-07	3.45006e-07	1	1	0	T	113102908	G	T	113102908	3	4	22	1	0	0	0	0	1	0	0	0	10249	991	35	2	1300	2	NCAM1	11	113102908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27728	113102908	21903608	12275	14421											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393020.1_Intron|TTC12_ENST00000483239.2_Missense_Mutation_p.A669V|TTC12_ENST00000314756.3_Missense_Mutation_p.A663V	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													9	267					0	0	1	0	0	T	113235728	C	T	113235728	3	4	22	1	0	0	0	0	1	0	0	0	16741	739	26	2	2066	2	TTC12	11	113235728	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132820	113235728	21770788	12276	14422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	39					0	0	1	0	0	T	113258669	C	T	113258669	2	4	22	1	0	0	0	0	0	0	0	1	627	883	31	1		1	ANKK1	11	113258669	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22941	113258669	21747847	12277	14423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	443					0	0	1	0	0	T	113266921	C	T	113266921	3	4	22	1	0	0	0	0	1	0	0	0	627	623	22	2	833	2	ANKK1	11	113266921	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8252	113266921	21739595	12278	14424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	130					4.42602e-33	5.23957e-33	1	1	0	A	113267969	C	A	113267969	3	1	22	1	0	0	0	0	1	0	0	0	627	564	20	2	884	2	ANKK1	11	113267969	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1048	113267969	21738547	12279	14425											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	56					0	0	1	0	0	A	113269997	G	A	113269997	3	1	22	1	0	0	0	0	1	0	0	0	627	971	34	2	1336	2	ANKK1	11	113269997	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2028	113269997	21736519	12280	14426											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542968.1_Silent_p.I425I|DRD2_ENST00000355319.2_Silent_p.I427I|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000544518.1_Silent_p.I424I|DRD2_ENST00000346454.3_Silent_p.I396I|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													137	612					1.88352e-63	2.37737e-63	1	1	0	T	113281506	G	T	113281506	2	4	22	1	0	0	0	0	0	0	0	1	4783	932	33	2		2	DRD2	11	113281506	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11509	113281506	21725010	12281	14427											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545579.1_Silent_p.V401V|TMPRSS5_ENST00000544634.1_Silent_p.V341V|TMPRSS5_ENST00000544476.1_Silent_p.V297V|TMPRSS5_ENST00000540540.1_Silent_p.V151V|TMPRSS5_ENST00000538955.1_Silent_p.V366V|TMPRSS5_ENST00000536856.1_Intron	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													5	25					0	0	1	0	0	T	113560616	C	T	113560616	2	4	22	1	0	0	0	0	0	0	0	1	16310	465	17	2		2	TMPRSS5	11	113560616	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279110	113560616	21445900	12282	14428											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	349					0	0	1	0	0	G	113610060	T	G	113610060	3	3	22	1	0	0	0	0	1	0	0	0	18287	1725	60	3	731	3	ZW10	11	113610060	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49444	113610060	21396456	12283	14429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545540.1_Missense_Mutation_p.C519Y|USP28_ENST00000544967.1_Missense_Mutation_p.C352Y|USP28_ENST00000260188.5_Missense_Mutation_p.C644Y	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													54	356					0	0	1	0	0	T	113683039	C	T	113683039	3	4	22	1	0	0	0	0	1	0	0	0	17118	478	17	2	1342	2	USP28	11	113683039	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72979	113683039	21323477	12284	14430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545540.1_Silent_p.S500S|USP28_ENST00000544967.1_Silent_p.S333S|USP28_ENST00000260188.5_Silent_p.S625S	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													68	386					3.94896e-32	4.66014e-32	1	1	0	T	113683095	G	T	113683095	2	4	22	1	0	0	0	0	0	0	0	1	17118	987	35	2		2	USP28	11	113683095	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56	113683095	21323421	12285	14431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537706.1_Missense_Mutation_p.H477Y|USP28_ENST00000545540.1_Missense_Mutation_p.H352Y|USP28_ENST00000544967.1_Missense_Mutation_p.H185Y|USP28_ENST00000260188.5_Missense_Mutation_p.H477Y	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													120	469					0	0	1	0	0	A	113688414	G	A	113688414	3	1	22	1	0	0	0	0	1	0	0	0	17118	1319	46	2	1856	2	USP28	11	113688414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5319	113688414	21318102	12286	14432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537706.1_Missense_Mutation_p.D269G|USP28_ENST00000542033.1_Intron|USP28_ENST00000545540.1_Missense_Mutation_p.D144G|USP28_ENST00000260188.5_Missense_Mutation_p.D269G	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													12	201					0	0	1	0	0	C	113702669	T	C	113702669	3	2	22	1	0	0	0	0	1	0	0	0	17118	1667	58	3	2499	3	USP28	11	113702669	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14255	113702669	21303847	12287	14433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	267					0	0	1	0	0	G	113780108	A	G	113780108	2	3	22	1	0	0	0	0	0	0	0	1	7489	272	10	3		3	HTR3B	11	113780108	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	77439	113780108	21226408	12288	14434											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	305					0	0	1	0	0	C	113815474	A	C	113815474	3	2	22	1	0	0	0	0	1	0	0	0	7489	43	2	3	1117	3	HTR3B	11	113815474	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35366	113815474	21191042	12289	14435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375498.2_Missense_Mutation_p.G149S|HTR3A_ENST00000506841.2_Missense_Mutation_p.G143S|HTR3A_ENST00000355556.2_Missense_Mutation_p.G149S|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000299961.5_Missense_Mutation_p.G128S			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													138	558					0	0	1	0	0	A	113853894	G	A	113853894	3	1	22	1	0	0	0	0	1	0	0	0	7488	1000	35	2	489	2	HTR3A	11	113853894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38420	113853894	21152622	12290	14436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375498.2_Missense_Mutation_p.G289D|HTR3A_ENST00000506841.2_Missense_Mutation_p.G283D|HTR3A_ENST00000355556.2_Missense_Mutation_p.G289D|HTR3A_ENST00000535865.1_Missense_Mutation_p.G27D|HTR3A_ENST00000299961.5_Missense_Mutation_p.G268D			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													49	424					0	0	1	0	0	A	113857382	G	A	113857382	3	1	22	1	0	0	0	0	1	0	0	0	7488	1203	42	2	918	2	HTR3A	11	113857382	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3488	113857382	21149134	12291	14437											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375498.2_Missense_Mutation_p.V454M|HTR3A_ENST00000506841.2_Missense_Mutation_p.V480M|HTR3A_ENST00000355556.2_Missense_Mutation_p.V486M|HTR3A_ENST00000535865.1_Missense_Mutation_p.V192M|HTR3A_ENST00000299961.5_Missense_Mutation_p.V433M			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													108	437					0	0	1	0	0	A	113860390	G	A	113860390	3	1	22	1	0	0	0	0	1	0	0	0	7488	1145	40	1	1512	1	HTR3A	11	113860390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3008	113860390	21146126	12292	14438											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	285					0	0	1	0	0	A	113934573	G	A	113934573	3	1	22	1	0	0	0	0	1	0	0	0	17585	971	34	2	553	2	ZBTB16	11	113934573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74183	113934573	21071943	12293	14439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541475.1_3'UTR|RBM7_ENST00000544582.1_Intron|RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000375490.5_Missense_Mutation_p.S179N			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													116	499					0	0	1	0	0	A	114278261	G	A	114278261	3	1	22	1	0	0	0	0	1	0	0	0	13197	1029	36	2	551	2	RBM7	11	114278261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	343688	114278261	20728255	12294	14440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541475.1_3'UTR|RBM7_ENST00000544582.1_Intron|RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000375490.5_Missense_Mutation_p.Q218H			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													91	374					7.69131e-47	9.45669e-47	1	1	0	T	114278379	G	T	114278379	3	4	22	1	0	0	0	0	1	0	0	0	13197	962	34	2	669	2	RBM7	11	114278379	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118	114278379	20728137	12295	14441											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539275.1_Missense_Mutation_p.H18R|REXO2_ENST00000539754.1_Missense_Mutation_p.H18R|REXO2_ENST00000544196.1_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)	13	108					0	0	1	0	0	G	114310303	A	G	114310303	3	3	22	1	0	0	0	0	1	0	0	0	13294	159	6	3	55	3	REXO2	11	114310303	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31924	114310303	20696213	12296	14442											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115049448C>T	ENST00000542447.2	-	8	1170	c.1042G>A	c.(1042-1044)Gtg>Atg	p.V348M	CADM1_ENST00000536727.1_Missense_Mutation_p.V377M|CADM1_ENST00000452722.2_Missense_Mutation_p.V376M|CADM1_ENST00000537058.1_Missense_Mutation_p.V387M|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Missense_Mutation_p.V405M	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	376				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			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													107	537					0	0	1	0	0	T	115049448	C	T	115049448	3	4	22	1	0	0	0	0	1	0	0	0	2584	536	19	1	210	1	CADM1	11	115049448	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	739145	115049448	19957068	12297	14443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115088668G>A	ENST00000542447.2	-	6	893	c.765C>T	c.(763-765)ggC>ggT	p.G255G	CADM1_ENST00000536727.1_Silent_p.G255G|CADM1_ENST00000452722.2_Silent_p.G255G|CADM1_ENST00000537058.1_Silent_p.G255G|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Silent_p.G255G	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	255	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													52	231					0	0	1	0	0	A	115088668	G	A	115088668	2	1	22	1	0	0	0	0	0	0	0	1	2584	958	34	2		2	CADM1	11	115088668	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39220	115088668	19917848	12298	14444											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115099861C>T	ENST00000542447.2	-	5	821	c.693G>A	c.(691-693)ctG>ctA	p.L231L	CADM1_ENST00000536727.1_Silent_p.L231L|CADM1_ENST00000452722.2_Silent_p.L231L|CADM1_ENST00000537058.1_Silent_p.L231L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Silent_p.L231L	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	231	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													37	186					0	0	1	0	0	T	115099861	C	T	115099861	2	4	22	1	0	0	0	0	0	0	0	1	2584	697	25	2		2	CADM1	11	115099861	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11193	115099861	19906655	12299	14445											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	141					4.02929e-09	4.23443e-09	1	1	0	A	116627904	C	A	116627904	3	1	22	1	0	0	0	0	1	0	0	0	1576	913	32	2	143	2	BUD13	11	116627904	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1528043	116627904	18378612	12300	14446											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	156					0	0	1	0	0	T	116661334	C	T	116661334	3	4	22	1	0	0	0	0	1	0	0	0	781	768	27	1	493	1	APOA5	11	116661334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33430	116661334	18345182	12301	14447											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	273					1.58986e-06	1.64048e-06	1	1	0	T	116661734	G	T	116661734	3	4	22	1	0	0	0	0	1	0	0	0	781	991	35	2	893	2	APOA5	11	116661734	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	400	116661734	18344782	12302	14448											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	30	144					0	0	1	0	0	T	116662558	C	T	116662558	3	4	22	1	0	0	0	0	1	0	0	0	781	536	19	1	1093	1	APOA5	11	116662558	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	824	116662558	18343958	12303	14449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	693					0	0	1	0	0	T	116693862	C	T	116693862	3	4	22	1	0	0	0	0	1	0	0	0	780	768	27	1	1156	1	APOA4	11	116693862	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31304	116693862	18312654	12304	14450											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Silent_p.S1130S|SIK3_ENST00000446921.2_Silent_p.S1188S|SIK3_ENST00000434315.2_Silent_p.S1029S|SIK3_ENST00000375288.1_Silent_p.S525S|SIK3_ENST00000292055.4_Silent_p.S1190S|AP006216.12_ENST00000444200.1_RNA			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													130	687					0	0	1	0	0	T	116718256	C	T	116718256	2	4	22	1	0	0	0	0	0	0	0	1	14374	639	23	1		1	SIK3	11	116718256	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24394	116718256	18288260	12305	14451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000529458.1_5'UTR|PCSK7_ENST00000540028.1_3'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								14	394					0	0	1	0	0	A	117077055	G	A	117077055	2	1	22	1	0	0	0	0	0	0	0	1	11652	958	34	2		2	PCSK7	11	117077055	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	358799	117077055	17929461	12306	14452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000531287.1_Missense_Mutation_p.V6A|RNF214_ENST00000531452.1_Missense_Mutation_p.V6A|RNF214_ENST00000300650.4_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													112	552					0	0	1	0	0	C	117105005	T	C	117105005	3	2	22	1	0	0	0	0	1	0	0	0	13530	1725	60	3	19	3	RNF214	11	117105005	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27950	117105005	17901511	12307	14453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392937.6_Missense_Mutation_p.R57C|BACE1_ENST00000528053.1_Missense_Mutation_p.R157C|BACE1_ENST00000514464.1_Intron|BACE1_ENST00000428381.2_Intron|BACE1_ENST00000510630.1_Missense_Mutation_p.R57C|BACE1_ENST00000445823.2_Intron|BACE1_ENST00000513780.1_Missense_Mutation_p.R157C	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|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													16	472					0	0	1	0	0	A	117165945	G	A	117165945	3	1	22	1	0	0	0	0	1	0	0	0	1279	1087	38	1	1064	1	BACE1	11	117165945	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60940	117165945	17840571	12308	14454											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392937.6_Missense_Mutation_p.S18F|BACE1_ENST00000528053.1_Missense_Mutation_p.S118F|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000428381.2_Missense_Mutation_p.S118F|BACE1_ENST00000510630.1_Missense_Mutation_p.S18F|BACE1_ENST00000445823.2_Missense_Mutation_p.S118F|BACE1_ENST00000513780.1_Missense_Mutation_p.S118F	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|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													31	155					0	0	1	0	0	A	117166061	G	A	117166061	3	1	22	1	0	0	0	0	1	0	0	0	1279	1174	41	2	1180	2	BACE1	11	117166061	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116	117166061	17840455	12309	14455											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_014956.4	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													87	381					0	0	1	0	0	T	117222548	C	T	117222548	2	4	22	1	0	0	0	0	0	0	0	1	3271	535	19	1		1	CEP164	11	117222548	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56487	117222548	17783968	12310	14456											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_014956.4	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													92	481					0	0	1	0	0	A	117241887	G	A	117241887	3	1	22	1	0	0	0	0	1	0	0	0	3271	971	34	2	883	2	CEP164	11	117241887	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19339	117241887	17764629	12311	14457											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	569					0	0	1	0	0	A	117302397	G	A	117302397	3	1	22	1	0	0	0	0	1	0	0	0	4795	1115	39	1	946	1	DSCAML1	11	117302397	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60510	117302397	17704119	12312	14458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	349					0	0	1	0	0	G	117303203	T	G	117303203	3	3	22	1	0	0	0	0	1	0	0	0	4795	1464	51	3	1133	3	DSCAML1	11	117303203	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	806	117303203	17703313	12313	14459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	380					0	0	1	0	0	A	117308099	G	A	117308099	3	1	22	1	0	0	0	0	1	0	0	0	4795	1000	35	2	1734	2	DSCAML1	11	117308099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4896	117308099	17698417	12314	14460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	465					0	0	1	0	0	A	117392003	G	A	117392003	3	1	22	1	0	0	0	0	1	0	0	0	4795	1145	40	1	5218	1	DSCAML1	11	117392003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83904	117392003	17614513	12315	14461											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	311					7.93312e-07	8.20014e-07	1	1	0	T	117403205	G	T	117403205	3	4	22	1	0	0	0	0	1	0	0	0	4795	962	34	2	5737	2	DSCAML1	11	117403205	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11202	117403205	17603311	12316	14462											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													141	639					0	0	1	0	0	T	117651219	C	T	117651219	3	4	22	1	0	0	0	0	1	0	0	0	4795	768	27	1	5936	1	DSCAML1	11	117651219	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248014	117651219	17355297	12317	14463											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541785.1_Missense_Mutation_p.R81W|IL10RA_ENST00000533700.1_3'UTR	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													37	316					0	0	1	0	0	T	117860269	C	T	117860269	3	4	22	1	0	0	0	0	1	0	0	0	7664	759	27	1	311	1	IL10RA	11	117860269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209050	117860269	17146247	12318	14464											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541785.1_Missense_Mutation_p.R264H|IL10RA_ENST00000533700.1_3'UTR	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													52	247					0	0	1	0	0	A	117869470	G	A	117869470	3	1	22	1	0	0	0	0	1	0	0	0	7664	1145	40	1	877	1	IL10RA	11	117869470	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9201	117869470	17137046	12319	14465											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000523251.1_Missense_Mutation_p.A99V|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.A139V|TMPRSS4_ENST00000437212.3_Missense_Mutation_p.A139V|TMPRSS4_ENST00000522307.1_5'UTR	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|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													23	210					0	0	1	0	0	T	117975511	C	T	117975511	3	4	22	1	0	0	0	0	1	0	0	0	16309	739	26	2	434	2	TMPRSS4	11	117975511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106041	117975511	17031005	12320	14466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	68	296					0	0	1	0	0	A	118015933	G	A	118015933	3	1	22	1	0	0	0	0	1	0	0	0	13975	971	34	2	629	2	SCN4B	11	118015933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40422	118015933	16990583	12321	14467											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	280					0	0	1	0	0	A	118038968	G	A	118038968	3	1	22	1	0	0	0	0	1	0	0	0	13971	1086	38	1	375	1	SCN2B	11	118038968	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23035	118038968	16967548	12322	14468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													163	637					0	0	1	0	0	A	118039321	G	A	118039321	2	1	22	1	0	0	0	0	0	0	0	1	13971	1311	46	2		2	SCN2B	11	118039321	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	353	118039321	16967195	12323	14469											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118068807C>A	ENST00000292067.7	-	7	1323		c.e7-1		AMICA1_ENST00000533261.1_Splice_Site|AMICA1_ENST00000356289.5_Splice_Site|AMICA1_ENST00000526620.1_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)	96	427					1.13762e-57	1.42504e-57	1	1	0	A	118068807	C	A	118068807	5	1	22	1	0	0	0	0	0	0	1	0	570	579	20	2	285	2	AMICA1	11	118068807	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29486	118068807	16937709	12324	14470											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533261.1_Intron|AMICA1_ENST00000356289.5_Intron|AMICA1_ENST00000526620.1_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													28	637					0	0	1	0	0	T	118083625	C	T	118083625	3	4	22	1	0	0	0	0	1	0	0	0	570	565	20	2	1182	2	AMICA1	11	118083625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14818	118083625	16922891	12325	14471											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	37					4.096e-09	4.30383e-09	1	1	0	T	118179150	G	T	118179150	4	4	22	1	0	0	0	0	0	1	0	0	3033	943	33	2	89	2	CD3E	11	118179150	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95525	118179150	16827366	12326	14472											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	445					7.34945e-47	9.03725e-47	1	1	0	A	118247314	C	A	118247314	2	1	22	1	0	0	0	0	0	0	0	1	16943	845	30	2		2	UBE4A	11	118247314	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68164	118247314	16759202	12327	14473											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	465					0	0	1	0	0	A	118263583	G	A	118263583	3	1	22	1	0	0	0	0	1	0	0	0	16943	942	33	2	3138	2	UBE4A	11	118263583	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16269	118263583	16742933	12328	14474											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118425964T>G	ENST00000264020.2	-	6	789	c.413_splice	c.e6+1	p.R138_splice	IFT46_ENST00000530872.1_Splice_Site_p.R138_splice|IFT46_ENST00000264021.3_Splice_Site_p.R87_splice	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													60	291					0	0	1	0	0	G	118425964	T	G	118425964	5	3	22	1	0	0	0	0	0	0	1	0	7604	1536	53	3	687	3	IFT46	11	118425964	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	162381	118425964	16580552	12329	14475											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													172	766					0	0	1	0	0	A	118428591	G	A	118428591	2	1	22	1	0	0	0	0	0	0	0	1	7604	1306	46	2		2	IFT46	11	118428591	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2627	118428591	16577925	12330	14476											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264028.4_Silent_p.V117V|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Silent_p.V29V			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													70	321					0	0	1	0	0	T	118453977	C	T	118453977	2	4	22	1	0	0	0	0	0	0	0	1	839	871	31	1		1	ARCN1	11	118453977	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25386	118453977	16552539	12331	14477											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264028.4_Missense_Mutation_p.R160C|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.R72C			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													38	406					0	0	1	0	0	T	118454554	C	T	118454554	3	4	22	1	0	0	0	0	1	0	0	0	839	768	27	1	492	1	ARCN1	11	118454554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	577	118454554	16551962	12332	14478											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													172	720					0	0	1	0	0	T	118498785	C	T	118498785	2	4	22	1	0	0	0	0	0	0	0	1	11899	796	28	2		2	PHLDB1	11	118498785	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44231	118498785	16507731	12333	14479											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	249					2.29192e-23	2.60423e-23	1	1	0	T	118502965	G	T	118502965	3	4	22	1	0	0	0	0	1	0	0	0	11899	991	35	2	2361	2	PHLDB1	11	118502965	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4180	118502965	16503551	12334	14480											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356063.5_Nonsense_Mutation_p.C1212*|PHLDB1_ENST00000527898.1_Nonsense_Mutation_p.C310*|PHLDB1_ENST00000524713.1_Nonsense_Mutation_p.C402*	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													43	442					4.67007e-22	5.27622e-22	1	1	0	A	118521155	C	A	118521155	4	1	22	1	0	0	0	0	0	1	0	0	11899	747	26	2	3851	2	PHLDB1	11	118521155	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18190	118521155	16485361	12335	14481											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525958.1_Nonsense_Mutation_p.Q441*|TREH_ENST00000530256.1_Nonsense_Mutation_p.Q349*|TREH_ENST00000397925.1_Nonsense_Mutation_p.Q441*|TREH_ENST00000264029.4_Nonsense_Mutation_p.Q472*			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)	6	77					0	0	1	0	0	A	118530097	G	A	118530097	4	1	22	1	0	0	0	0	0	1	0	0	16530	1328	46	2	352	2	TREH	11	118530097	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8942	118530097	16476419	12336	14482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								115	584					0	0	1	0	0	A	118625471	G	A	118625471	2	1	22	1	0	0	0	0	0	0	0	1	4400	991	35	2		2	DDX6	11	118625471	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95374	118625471	16381045	12337	14483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	97					0	0	1	0	0	A	118769762	G	A	118769762	3	1	22	1	0	0	0	0	1	0	0	0	1380	1087	38	1	641	1	BCL9L	11	118769762	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144291	118769762	16236754	12338	14484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	178					0	0	1	0	0	A	118770898	G	A	118770898	3	1	22	1	0	0	0	0	1	0	0	0	1380	1116	39	1	1373	1	BCL9L	11	118770898	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1136	118770898	16235618	12339	14485											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	135					0	0	1	0	0	T	118772712	C	T	118772712	2	4	22	1	0	0	0	0	0	0	0	1	1380	697	25	2		2	BCL9L	11	118772712	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1814	118772712	16233804	12340	14486											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118773616G>T	ENST00000334801.3	-	6	1800	c.834_splice	c.e6-1	p.A279_splice	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													18	89					5.03518e-11	5.3609e-11	1	1	0	T	118773616	G	T	118773616	5	4	22	1	0	0	0	0	0	0	1	0	1380	1217	42	2	3675	2	BCL9L	11	118773616	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	904	118773616	16232900	12341	14487											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	237					0	0	1	0	0	T	118881506	C	T	118881506	3	4	22	1	0	0	0	0	1	0	0	0	2878	855	30	2	430	2	CCDC84	11	118881506	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107890	118881506	16125010	12342	14488											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000529972.1_Silent_p.L692L|HYOU1_ENST00000525859.1_Silent_p.L692L|HYOU1_ENST00000543287.1_3'UTR	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													106	420					0	0	1	0	0	A	118919076	G	A	118919076	2	1	22	1	0	0	0	0	0	0	0	1	7514	962	34	2		2	HYOU1	11	118919076	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37570	118919076	16087440	12343	14489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	97					0	0	1	0	0	T	118949921	C	T	118949921	2	4	22	1	0	0	0	0	0	0	0	1	17248	738	26	2		2	VPS11	11	118949921	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30845	118949921	16056595	12344	14490											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	235					5.78141e-17	6.36782e-17	1	1	0	T	118978770	G	T	118978770	3	4	22	1	0	0	0	0	1	0	0	0	2167	1261	44	2	321	2	C2CD2L	11	118978770	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28849	118978770	16027746	12345	14491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	213					8.73648e-17	9.61379e-17	1	1	0	A	118983078	C	A	118983078	3	1	22	1	0	0	0	0	1	0	0	0	2167	796	28	2	1090	2	C2CD2L	11	118983078	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4308	118983078	16023438	12346	14492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	248					0	0	1	0	0	T	118983574	C	T	118983574	2	4	22	1	0	0	0	0	0	0	0	1	2167	535	19	1		1	C2CD2L	11	118983574	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	496	118983574	16022942	12347	14493											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	351					0	0	1	0	0	T	118984415	C	T	118984415	2	4	22	1	0	0	0	0	0	0	0	1	2167	709	25	2		2	C2CD2L	11	118984415	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	841	118984415	16022101	12348	14494											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	283					0	0	1	0	0	G	118984608	A	G	118984608	2	3	22	1	0	0	0	0	0	0	0	1	2167	175	7	3		3	C2CD2L	11	118984608	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	193	118984608	16021908	12349	14495											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	469					0	0	1	0	0	A	119003275	G	A	119003275	3	1	22	1	0	0	0	0	1	0	0	0	7151	1087	38	1	764	1	HINFP	11	119003275	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18667	119003275	16003241	12350	14496											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	597					0	0	1	0	0	T	119003439	C	T	119003439	3	4	22	1	0	0	0	0	1	0	0	0	7151	768	27	1	845	1	HINFP	11	119003439	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	164	119003439	16003077	12351	14497											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													132	573					0	0	1	0	0	A	119003857	G	A	119003857	3	1	22	1	0	0	0	0	1	0	0	0	7151	1116	39	1	1097	1	HINFP	11	119003857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	418	119003857	16002659	12352	14498											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	57	221					0	0	1	0	0	A	119004915	G	A	119004915	3	1	22	1	0	0	0	0	1	0	0	0	7151	1059	37	1	1295	1	HINFP	11	119004915	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1058	119004915	16001601	12353	14499											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	463					0	0	1	0	0	T	119030980	C	T	119030980	3	4	22	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	12354	14500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525863.1_Missense_Mutation_p.G304S|NLRX1_ENST00000409265.4_Missense_Mutation_p.G304S|NLRX1_ENST00000292199.2_Missense_Mutation_p.G304S			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													19	931					0	0	1	0	0	A	119045222	G	A	119045222	3	1	22	1	0	0	0	0	1	0	0	0	10532	1232	43	2	928	2	NLRX1	11	119045222	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14242	119045222	15961294	12355	14501											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525863.1_Missense_Mutation_p.A366T|NLRX1_ENST00000409265.4_Missense_Mutation_p.A366T|NLRX1_ENST00000292199.2_Missense_Mutation_p.A366T			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													12	400					0	0	1	0	0	A	119045408	G	A	119045408	3	1	22	1	0	0	0	0	1	0	0	0	10532	1087	38	1	1114	1	NLRX1	11	119045408	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	186	119045408	15961108	12356	14502											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	600					0	0	1	0	0	A	119181118	G	A	119181118	3	1	22	1	0	0	0	0	1	0	0	0	9418	1232	43	2	96	2	MCAM	11	119181118	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135710	119181118	15825398	12357	14503											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|MFRP_ENST00000360167.4_Intron|MFRP_ENST00000449574.2_Silent_p.E499E|C1QTNF5_ENST00000445041.2_5'UTR	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													62	238					0	0	1	0	0	T	119212585	C	T	119212585	2	4	22	1	0	0	0	0	0	0	0	1	9576	680	24	2		2	MFRP	11	119212585	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31467	119212585	15793931	12358	14504											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.L78F|MFRP_ENST00000449574.2_Missense_Mutation_p.L78F|C1QTNF5_ENST00000445041.2_5'UTR	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													12	89					0	0	1	0	0	A	119216795	G	A	119216795	3	1	22	1	0	0	0	0	1	0	0	0	9576	1000	35	2	1551	2	MFRP	11	119216795	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4210	119216795	15789721	12359	14505											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	268					7.92952e-12	8.47903e-12	1	1	0	A	119243427	C	A	119243427	3	1	22	1	0	0	0	0	1	0	0	0	17111	913	32	2	1252	2	USP2	11	119243427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26632	119243427	15763089	12360	14506											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	212					0	0	1	0	0	A	119244150	G	A	119244150	3	1	22	1	0	0	0	0	1	0	0	0	17111	1059	37	1	1975	1	USP2	11	119244150	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	723	119244150	15762366	12361	14507											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	175					0	0	1	0	0	A	119535612	G	A	119535612	3	1	22	1	0	0	0	0	1	0	0	0	12891	1203	42	2	544	2	PVRL1	11	119535612	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	291462	119535612	15470904	12362	14508											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	214					0	0	1	0	0	A	119535964	G	A	119535964	2	1	22	1	0	0	0	0	0	0	0	1	12891	1103	39	1		1	PVRL1	11	119535964	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	352	119535964	15470552	12363	14509	93	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	199					0	0	1	0	0	A	119535972	G	A	119535972	3	1	22	1	0	0	0	0	1	0	0	0	12891	1086	38	1	904	1	PVRL1	11	119535972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	119535972	15470544	12364	14510	93	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	558					0	0	1	0	0	T	120008617	C	T	120008617	2	4	22	1	0	0	0	0	0	0	0	1	16564	912	32	2		2	TRIM29	11	120008617	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	472645	120008617	14997899	12365	14511											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	189					0	0	1	0	0	A	120097673	G	A	120097673	3	1	22	1	0	0	0	0	1	0	0	0	10846	1087	38	1	525	1	OAF	11	120097673	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89056	120097673	14908843	12366	14512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								69	783					0	0	1	0	0	C	120343820	A	C	120343820	3	2	22	1	0	0	0	0	1	0	0	0	894	101	4	3	3139	3	ARHGEF12	11	120343820	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	246147	120343820	14662696	12367	14513											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								63	286					9.12251e-31	1.07152e-30	1	1	0	T	120347416	G	T	120347416	3	4	22	1	0	0	0	0	1	0	0	0	894	933	33	2	3458	2	ARHGEF12	11	120347416	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3596	120347416	14659100	12368	14514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								23	183					0	0	1	0	0	C	120348237	T	C	120348237	5	2	22	1	0	0	0	0	0	0	1	0	894	1652	57	3	3676	3	ARHGEF12	11	120348237	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	821	120348237	14658279	12369	14515											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								37	317					0	0	1	0	0	C	120355208	A	C	120355208	3	2	22	1	0	0	0	0	1	0	0	0	894	72	3	3	4774	3	ARHGEF12	11	120355208	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6971	120355208	14651308	12370	14516											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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													41	174					4.86159e-25	5.57236e-25	1	1	0	A	120769288	C	A	120769288	2	1	22	1	0	0	0	0	0	0	0	1	6817	900	32	2		2	GRIK4	11	120769288	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	414080	120769288	14237228	12371	14517											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	235					0	0	1	0	0	C	120930756	T	C	120930756	2	2	22	1	0	0	0	0	0	0	0	1	15695	1712	60	3		3	TBCEL	11	120930756	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	161468	120930756	14075760	12372	14518											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	183					0	0	1	0	0	T	120989026	C	T	120989026	3	4	22	1	0	0	0	0	1	0	0	0	15806	875	31	1	824	1	TECTA	11	120989026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58270	120989026	14017490	12373	14519											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	439					0	0	1	0	0	G	120989208	A	G	120989208	2	3	22	1	0	0	0	0	0	0	0	1	15806	146	6	3		3	TECTA	11	120989208	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	182	120989208	14017308	12374	14520											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	359					0	0	1	0	0	T	120998829	C	T	120998829	3	4	22	1	0	0	0	0	1	0	0	0	15806	797	28	2	2173	2	TECTA	11	120998829	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9621	120998829	14007687	12375	14521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	340					0	0	1	0	0	G	121000350	A	G	121000350	3	3	22	1	0	0	0	0	1	0	0	0	15806	246	9	3	2405	3	TECTA	11	121000350	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1521	121000350	14006166	12376	14522											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	335					0	0	1	0	0	T	121028656	C	T	121028656	3	4	22	1	0	0	0	0	1	0	0	0	15806	768	27	1	4462	1	TECTA	11	121028656	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28306	121028656	13977860	12377	14523											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													149	625					0	0	1	0	0	T	121031011	C	T	121031011	2	4	22	1	0	0	0	0	0	0	0	1	15806	776	27	1		1	TECTA	11	121031011	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2355	121031011	13975505	12378	14524											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	235					6.08268e-21	6.83416e-21	1	1	0	A	121060582	C	A	121060582	3	1	22	1	0	0	0	0	1	0	0	0	15806	796	28	2	6446	2	TECTA	11	121060582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29571	121060582	13945934	12379	14525											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003096.1	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													76	333					8.87156e-34	1.0529e-33	1	1	0	T	121383800	G	T	121383800	3	4	22	1	0	0	0	0	1	0	0	0	14988	942	33	2	1054	2	SORL1	11	121383800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	323218	121383800	13622716	12380	14526											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003096.1	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													75	358					0	0	1	0	0	A	121440888	G	A	121440888	2	1	22	1	0	0	0	0	0	0	0	1	14988	1020	36	2		2	SORL1	11	121440888	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57088	121440888	13565628	12381	14527											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000532694.1_Missense_Mutation_p.D164Y|SORL1_ENST00000534286.1_Missense_Mutation_p.D228Y|SORL1_ENST00000525532.1_Missense_Mutation_p.D262Y	NM_003105.5	NP_003096.1	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													92	1069					9.25274e-37	1.1089e-36	1	1	0	T	121459973	G	T	121459973	3	4	22	1	0	0	0	0	1	0	0	0	14988	942	33	2	4066	2	SORL1	11	121459973	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19085	121459973	13546543	12382	14528											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	283					0	0	1	0	0	A	122669710	G	A	122669710	3	1	22	1	0	0	0	0	1	0	0	0	16901	1087	38	1	1456	1	UBASH3B	11	122669710	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1209737	122669710	12336806	12383	14529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	520					2.23348e-06	2.30073e-06	1	1	0	T	122671895	G	T	122671895	5	4	22	1	0	0	0	0	0	0	1	0	16901	1014	35	2	1492	2	UBASH3B	11	122671895	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2185	122671895	12334621	12384	14530											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	150					6.40141e-05	6.5221e-05	1	1	0	A	122677157	C	A	122677157	2	1	22	1	0	0	0	0	0	0	0	1	16901	668	24	2		2	UBASH3B	11	122677157	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5262	122677157	12329359	12385	14531											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000307257.6_Silent_p.T151T|C11orf63_ENST00000531316.1_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													151	623					0	0	1	0	0	A	122774741	G	A	122774741	2	1	22	1	0	0	0	0	0	0	0	1	1659	1103	39	1		1	C11orf63	11	122774741	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97584	122774741	12231775	12386	14532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	211					2.69953e-25	3.09604e-25	1	1	0	A	122848527	C	A	122848527	3	1	22	1	0	0	0	0	1	0	0	0	1537	797	28	2	172	2	BSX	11	122848527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73786	122848527	12157989	12387	14533	94	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	223					0	0	1	0	0	C	122848534	T	C	122848534	2	2	22	1	0	0	0	0	0	0	0	1	1537	1722	60	3		3	BSX	11	122848534	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7	122848534	12157982	12388	14534	94	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526110.1_Missense_Mutation_p.L286M|HSPA8_ENST00000227378.3_Missense_Mutation_p.L305M|HSPA8_ENST00000534319.1_Missense_Mutation_p.L69M|HSPA8_ENST00000532636.1_Missense_Mutation_p.L305M|HSPA8_ENST00000453788.2_Missense_Mutation_p.L305M|HSPA8_ENST00000533540.1_Missense_Mutation_p.L159M|HSPA8_ENST00000526862.1_5'UTR	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													45	224					4.67007e-22	5.27622e-22	1	1	0	T	122930388	G	T	122930388	3	4	22	1	0	0	0	0	1	0	0	0	7459	1020	36	2	1047	2	HSPA8	11	122930388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81854	122930388	12076128	12389	14535											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450171.2_Missense_Mutation_p.R179H|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.R488H|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													73	367					0	0	1	0	0	A	123481019	G	A	123481019	3	1	22	1	0	0	0	0	1	0	0	0	6789	1145	40	1	1513	1	GRAMD1B	11	123481019	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	550631	123481019	11525497	12390	14536											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000530393.1_Missense_Mutation_p.P256S|ZNF202_ENST00000529691.1_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													66	297					0	0	1	0	0	A	123598907	G	A	123598907	3	1	22	1	0	0	0	0	1	0	0	0	17821	1232	43	2	1192	2	ZNF202	11	123598907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117888	123598907	11407609	12391	14537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000530393.1_Missense_Mutation_p.L120M|ZNF202_ENST00000529691.1_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													115	563					1.37143e-49	1.69657e-49	1	1	0	T	123601239	G	T	123601239	3	4	22	1	0	0	0	0	1	0	0	0	17821	962	34	2	1612	2	ZNF202	11	123601239	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2332	123601239	11405277	12392	14538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	350					0	0	1	0	0	A	123624503	G	A	123624503	3	1	22	1	0	0	0	0	1	0	0	0	11259	1319	46	2	216	2	OR6X1	11	123624503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23264	123624503	11382013	12393	14539											
OR6X1	390260	broad.mit.edu	37	chr11	123624553	123624553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccagtggctgaaggaattCgtaggattgcggacagaatg	16	6	0	2	rs140203672	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624553C>T	ENST00000327930.2	-	1	700	c.674G>A	c.(673-675)cGa>cAa	p.R225Q		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	225					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)		TGAAGGAATTCGTAGGATTGC	0.473													83	446					0	0	1	0	0	T	123624553	C	T	123624553	3	4	22	1	0	0	0	0	1	0	0	0	11259	884	31	1	266	1	OR6X1	11	123624553	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50	123624553	11381963	12394	14540											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	389					0	0	1	0	0	C	123624731	A	C	123624731	3	2	22	1	0	0	0	0	1	0	0	0	11259	101	4	3	444	3	OR6X1	11	123624731	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	178	123624731	11381785	12395	14541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	347					0	0	1	0	0	A	123624777	G	A	123624777	2	1	22	1	0	0	0	0	0	0	0	1	11259	958	34	2		2	OR6X1	11	123624777	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46	123624777	11381739	12396	14542											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	253					1.98135e-44	2.42465e-44	1	1	0	T	123676536	G	T	123676536	3	4	22	1	0	0	0	0	1	0	0	0	11252	933	33	2	422	2	OR6M1	11	123676536	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51759	123676536	11329980	12397	14543											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	264					1	1	1	1	0	T	123676620	G	T	123676620	4	4	22	1	0	0	0	0	0	1	0	0	11252	963	34	2	506	2	OR6M1	11	123676620	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84	123676620	11329896	12398	14544											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	311					0	0	1	0	0	A	123753963	G	A	123753963	3	1	22	1	0	0	0	0	1	0	0	0	16207	942	33	2	121	2	TMEM225	11	123753963	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77343	123753963	11252553	12399	14545											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	347					0	0	1	0	0	G	123754818	T	G	123754818	3	3	22	1	0	0	0	0	1	0	0	0	16207	1638	57	3	258	3	TMEM225	11	123754818	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	855	123754818	11251698	12400	14546											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	441					0	0	1	0	0	G	123754867	T	G	123754867	3	3	22	1	0	0	0	0	1	0	0	0	16207	1606	56	3	307	3	TMEM225	11	123754867	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49	123754867	11251649	12401	14547											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	1150					6.88731e-43	8.39682e-43	1	1	0	T	123777647	G	T	123777647	3	4	22	1	0	0	0	0	1	0	0	0	11280	1174	41	2	511	2	OR8D4	11	123777647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22780	123777647	11228869	12402	14548											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	320					3.82274e-22	4.32047e-22	1	1	0	T	123811251	G	T	123811251	3	4	22	1	0	0	0	0	1	0	0	0	11105	1348	47	2	930	2	OR4D5	11	123811251	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33604	123811251	11195265	12403	14549											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	298					0	0	1	0	0	T	123813879	C	T	123813879	3	4	22	1	0	0	0	0	1	0	0	0	11257	710	25	2	307	2	OR6T1	11	123813879	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2628	123813879	11192637	12404	14550											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	298					0	0	1	0	0	T	123847714	C	T	123847714	3	4	22	1	0	0	0	0	1	0	0	0	10966	536	19	1	314	1	OR10S1	11	123847714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33835	123847714	11158802	12405	14551											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	293					0	0	1	0	0	T	123847863	C	T	123847863	3	4	22	1	0	0	0	0	1	0	0	0	10966	768	27	1	463	1	OR10S1	11	123847863	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149	123847863	11158653	12406	14552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	492					0	0	1	0	0	A	123894465	G	A	123894465	3	1	22	1	0	0	0	0	1	0	0	0	10952	1319	46	2	748	2	OR10G9	11	123894465	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46602	123894465	11112051	12407	14553											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	753					0.11911	0.119318	1	1	0	T	123900354	G	T	123900354	3	4	22	1	0	0	0	0	1	0	0	0	10951	971	34	2	27	2	OR10G8	11	123900354	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5889	123900354	11106162	12408	14554											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	829					0	0	1	0	0	A	123909487	G	A	123909487	2	1	22	1	0	0	0	0	0	0	0	1	10950	1277	45	2		2	OR10G7	11	123909487	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9133	123909487	11097029	12409	14555											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449321.1_Missense_Mutation_p.Q303H|VWA5A_ENST00000392744.4_Missense_Mutation_p.Q319H|VWA5A_ENST00000361352.5_Missense_Mutation_p.Q303H|VWA5A_ENST00000392748.1_Missense_Mutation_p.Q303H|VWA5A_ENST00000360334.4_Missense_Mutation_p.Q303H	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													45	139					1.61863e-15	1.77026e-15	1	1	0	T	123993815	G	T	123993815	3	4	22	1	0	0	0	0	1	0	0	0	17302	962	34	2	931	2	VWA5A	11	123993815	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84328	123993815	11012701	12410	14556											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	198					6.34439e-16	6.95021e-16	1	1	0	A	124189745	C	A	124189745	3	1	22	1	0	0	0	0	1	0	0	0	11279	797	28	2	589	2	OR8D2	11	124189745	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195930	124189745	10816771	12411	14557											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	409					0	0	1	0	0	C	124190029	T	C	124190029	3	2	22	1	0	0	0	0	1	0	0	0	11279	1783	62	3	873	3	OR8D2	11	124190029	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	284	124190029	10816487	12412	14558											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	333					0	0	1	0	0	G	124310687	T	G	124310687	3	3	22	1	0	0	0	0	1	0	0	0	11277	1667	58	3	643	3	OR8B8	11	124310687	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	120658	124310687	10695829	12413	14559											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	248					0	0	1	0	0	T	124413189	C	T	124413189	3	4	22	1	0	0	0	0	1	0	0	0	11273	768	27	1	572	1	OR8B12	11	124413189	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102502	124413189	10593327	12414	14560											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													124	469					0	0	1	0	0	T	124509617	C	T	124509617	2	4	22	1	0	0	0	0	0	0	0	1	14353	755	27	1		1	SIAE	11	124509617	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96428	124509617	10496899	12415	14561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	449					0	0	1	0	0	T	124545184	C	T	124545184	2	4	22	1	0	0	0	0	0	0	0	1	15025	610	22	2		2	SPA17	11	124545184	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35567	124545184	10461332	12416	14562											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	313					8.83742e-36	1.05621e-35	1	1	0	T	124618371	G	T	124618371	3	4	22	1	0	0	0	0	1	0	0	0	17284	962	34	2	225	2	VSIG2	11	124618371	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73187	124618371	10388145	12417	14563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	63					0	0	1	0	0	A	124738946	G	A	124738946	3	1	22	1	0	0	0	0	1	0	0	0	13567	1174	41	2	415	2	ROBO3	11	124738946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120575	124738946	10267570	12418	14564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	268					0	0	1	0	0	A	124740119	G	A	124740119	2	1	22	1	0	0	0	0	0	0	0	1	13567	1277	45	2		2	ROBO3	11	124740119	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1173	124740119	10266397	12419	14565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	255					0	0	1	0	0	A	124742317	G	A	124742317	3	1	22	1	0	0	0	0	1	0	0	0	13567	1087	38	1	1229	1	ROBO3	11	124742317	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2198	124742317	10264199	12420	14566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	257					0	0	1	0	0	C	124742334	A	C	124742334	2	2	22	1	0	0	0	0	0	0	0	1	13567	64	3	3		3	ROBO3	11	124742334	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17	124742334	10264182	12421	14567											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	474					0	0	1	0	0	A	124765426	G	A	124765426	2	1	22	1	0	0	0	0	0	0	0	1	13568	1281	45	2		2	ROBO4	11	124765426	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23092	124765426	10241090	12422	14568											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	496					0	0	1	0	0	A	124765468	G	A	124765468	2	1	22	1	0	0	0	0	0	0	0	1	13568	1078	38	1		1	ROBO4	11	124765468	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42	124765468	10241048	12423	14569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.P107S	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													76	314					0	0	1	0	0	A	124765734	G	A	124765734	3	1	22	1	0	0	0	0	1	0	0	0	13568	1232	43	2	2325	2	ROBO4	11	124765734	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	266	124765734	10240782	12424	14570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	287					0	0	1	0	0	T	124793679	C	T	124793679	3	4	22	1	0	0	0	0	1	0	0	0	7093	507	18	2	615	2	HEPACAM	11	124793679	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27945	124793679	10212837	12425	14571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	75					0	0	1	0	0	C	124845009	A	C	124845009	3	2	22	1	0	0	0	0	1	0	0	0	2802	40	2	3	548	3	CCDC15	11	124845009	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51330	124845009	10161507	12426	14572											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	440					0	0	1	0	0	A	124857477	G	A	124857477	3	1	22	1	0	0	0	0	1	0	0	0	2802	942	33	2	1381	2	CCDC15	11	124857477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12468	124857477	10149039	12427	14573											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													3	33					0.004672	0.00470394	1	1	0	T	124875078	G	T	124875078	3	4	22	1	0	0	0	0	1	0	0	0	2802	1000	35	2	2427	2	CCDC15	11	124875078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17601	124875078	10131438	12428	14574											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000298280.5_Silent_p.S267S|SLC37A2_ENST00000308074.4_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													42	234					0	0	1	0	0	T	124951718	C	T	124951718	2	4	22	1	0	0	0	0	0	0	0	1	14653	767	27	1		1	SLC37A2	11	124951718	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76640	124951718	10054798	12429	14575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	456					0.00152264	0.00153772	1	1	0	A	125255507	C	A	125255507	2	1	22	1	0	0	0	0	0	0	0	1	12031	784	28	2		2	PKNOX2	11	125255507	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	303789	125255507	9751009	12430	14576											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	359					0	0	1	0	0	T	125267823	C	T	125267823	2	4	22	1	0	0	0	0	0	0	0	1	12031	813	29	2		2	PKNOX2	11	125267823	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12316	125267823	9738693	12431	14577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	168					0	0	1	0	0	G	125301267	A	G	125301267	2	3	22	1	0	0	0	0	0	0	0	1	12031	40	2	3		3	PKNOX2	11	125301267	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33444	125301267	9705249	12432	14578											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343678.4_Silent_p.R41R|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_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													7	29					0	0	1	0	0	C	125445239	T	C	125445239	2	2	22	1	0	0	0	0	0	0	0	1	5011	1654	58	3		3	EI24	11	125445239	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	143972	125445239	9561277	12433	14579											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343678.4_Intron|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_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													26	168					1.33986e-20	1.50291e-20	1	1	0	T	125451139	G	T	125451139	4	4	22	1	0	0	0	0	0	1	0	0	5011	943	33	2	736	2	EI24	11	125451139	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5900	125451139	9555377	12434	14580											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000425431.1_Missense_Mutation_p.I109S|ACRV1_ENST00000445562.1_Missense_Mutation_p.I158S|ACRV1_ENST00000433875.1_Missense_Mutation_p.I234S|ACRV1_ENST00000348856.3_Missense_Mutation_p.I153S|ACRV1_ENST00000257382.2_Missense_Mutation_p.I198S|ACRV1_ENST00000353070.1_Missense_Mutation_p.I69S|ACRV1_ENST00000453509.1_Missense_Mutation_p.I164S|ACRV1_ENST00000426183.1_Missense_Mutation_p.I183S|CHEK1_ENST00000428830.2_Intron|ACRV1_ENST00000345274.1_Missense_Mutation_p.I143S			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													105	494					0	0	1	0	0	C	125542528	A	C	125542528	3	2	22	1	0	0	0	0	1	0	0	0	172	101	4	3	43	3	ACRV1	11	125542528	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	91389	125542528	9463988	12435	14581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000425431.1_Missense_Mutation_p.Q68H|ACRV1_ENST00000445562.1_Missense_Mutation_p.Q117H|ACRV1_ENST00000433875.1_Missense_Mutation_p.Q193H|ACRV1_ENST00000348856.3_Missense_Mutation_p.Q112H|ACRV1_ENST00000257382.2_Missense_Mutation_p.Q157H|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000453509.1_Missense_Mutation_p.Q123H|ACRV1_ENST00000426183.1_Missense_Mutation_p.Q142H|ACRV1_ENST00000345274.1_Intron			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													106	431					5.89325e-56	7.37154e-56	1	1	0	A	125546291	C	A	125546291	3	1	22	1	0	0	0	0	1	0	0	0	172	912	32	2	169	2	ACRV1	11	125546291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3763	125546291	9460225	12436	14582											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PUS3_ENST00000530811.1_Missense_Mutation_p.E297D|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000356438.3_Intron	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597.3	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													91	396					2.67636e-39	3.23553e-39	1	1	0	A	125765172	C	A	125765172	3	1	22	1	0	0	0	0	1	0	0	0	12884	912	32	2	562	2	PUS3	11	125765172	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218881	125765172	9241344	12437	14583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	52					0	0	1	0	0	C	125788671	A	C	125788671	3	2	22	1	0	0	0	0	1	0	0	0	4375	101	4	3	1225	3	DDX25	11	125788671	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23499	125788671	9217845	12438	14584											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000263577.7_Missense_Mutation_p.R927C|CDON_ENST00000531738.1_Missense_Mutation_p.R304C	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													36	155					0	0	1	0	0	A	125853983	G	A	125853983	3	1	22	1	0	0	0	0	1	0	0	0	3192	1145	40	1	1035	1	CDON	11	125853983	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65312	125853983	9152533	12439	14585											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													198	1007					0	0	1	0	0	A	126079531	G	A	126079531	2	1	22	1	0	0	0	0	0	0	0	1	13721	933	33	2		2	RPUSD4	11	126079531	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	225548	126079531	8926985	12440	14586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	392					0	0	1	0	0	T	126133894	C	T	126133894	3	4	22	1	0	0	0	0	1	0	0	0	15218	536	19	1	86	1	SRPR	11	126133894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54363	126133894	8872622	12441	14587											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	152					0	0	1	0	0	A	126213270	G	A	126213270	2	1	22	1	0	0	0	0	0	0	0	1	4324	1103	39	1		1	DCPS	11	126213270	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79376	126213270	8793246	12442	14588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	555					0	0	1	0	0	A	126215338	G	A	126215338	3	1	22	1	0	0	0	0	1	0	0	0	4324	1087	38	1	866	1	DCPS	11	126215338	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2068	126215338	8791178	12443	14589											
DCPS	28960	broad.mit.edu	37	chr11	126215354	126215354	+	Frame_Shift_Del	DEL	C	C	-													caccgccctgggcttcgaggCccccggctcaggcgtggagc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126215354delC	ENST00000263579.4	+	6	1189	c.860delC	c.(859-861)gcfs	p.A287fs	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	287					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)		GGCTTCGAGGCCCCCGGCTCA	0.637													7	750	---	---	---	---						-	126215354	C	-	126215354	7	5	22	1	0	1	0	1	0	0	0	0	4324	739	26	0	882	0	DCPS	11	126215354	Frame_Shift_Del	DEL	C	TCGA-IB-7651-01A-11D-2154-08	16	126215354	8791162	12444	14590											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449406.2_Missense_Mutation_p.R119W|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.R130W|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.R126W|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.R125W|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.R136W|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.R130W|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.R129W|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.R126W|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.R130W			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													57	287					0	0	1	0	0	T	126278040	C	T	126278040	3	4	22	1	0	0	0	0	1	0	0	0	15273	759	27	1	398	1	ST3GAL4	11	126278040	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62686	126278040	8728476	12445	14591											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449406.2_Missense_Mutation_p.R309Q|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.R316Q|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.R315Q|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.R326Q|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.R319Q|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.R316Q|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.R320Q			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													39	217					0	0	1	0	0	A	126283899	G	A	126283899	3	1	22	1	0	0	0	0	1	0	0	0	15273	1116	39	1	985	1	ST3GAL4	11	126283899	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5859	126283899	8722617	12446	14592											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000529097.2_Missense_Mutation_p.S717N|KIRREL3_ENST00000416561.2_Missense_Mutation_p.S196N	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													36	374					0	0	1	0	0	T	126294626	C	T	126294626	3	4	22	1	0	0	0	0	1	0	0	0	8369	797	28	2	154	2	KIRREL3	11	126294626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10727	126294626	8711890	12447	14593											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000529097.2_Silent_p.E633E|KIRREL3_ENST00000416561.2_Silent_p.E112E	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													11	68					0	0	1	0	0	T	126294877	C	T	126294877	2	4	22	1	0	0	0	0	0	0	0	1	8369	796	28	2		2	KIRREL3	11	126294877	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	251	126294877	8711639	12448	14594											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000529097.2_Missense_Mutation_p.R371W|KIRREL3_ENST00000525704.2_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													7	41					0	0	1	0	0	A	126316668	G	A	126316668	3	1	22	1	0	0	0	0	1	0	0	0	8369	1086	38	1	1368	1	KIRREL3	11	126316668	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21791	126316668	8689848	12449	14595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128680721C>T	ENST00000344954.6	+	9	1486	c.1098C>T	c.(1096-1098)aaC>aaT	p.N366N	FLI1_ENST00000281428.8_Silent_p.N333N|FLI1_ENST00000429175.2_Silent_p.N399N|FLI1_ENST00000534087.1_Silent_p.N366N|FLI1_ENST00000525560.1_Silent_p.N206N			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	399					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								13	235					0	0	1	0	0	T	128680721	C	T	128680721	2	4	22	1	0	0	0	0	0	0	0	1	5957	564	20	2		2	FLI1	11	128680721	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2364053	128680721	6325795	12450	14596											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392664.2_Missense_Mutation_p.S381L|KCNJ1_ENST00000440599.2_Missense_Mutation_p.S362L|KCNJ1_ENST00000324036.3_Missense_Mutation_p.S362L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.S362L	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													38	214					0	0	1	0	0	A	128709054	G	A	128709054	3	1	22	1	0	0	0	0	1	0	0	0	8087	1294	45	2	37	2	KCNJ1	11	128709054	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28333	128709054	6297462	12451	14597											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	424					0	0	1	0	0	A	128781835	G	A	128781835	3	1	22	1	0	0	0	0	1	0	0	0	8098	1058	37	1	669	1	KCNJ5	11	128781835	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72781	128781835	6224681	12452	14598											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	138					0	0	1	0	0	A	128786590	G	A	128786590	2	1	22	1	0	0	0	0	0	0	0	1	8098	1190	42	2		2	KCNJ5	11	128786590	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4755	128786590	6219926	12453	14599											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000458238.2_Intron|TP53AIP1_ENST00000531399.1_Intron|TP53AIP1_ENST00000530777.1_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													14	283					0	0	1	0	0	T	128807455	C	T	128807455	3	4	22	1	0	0	0	0	1	0	0	0	16443	797	28	2	71	2	TP53AIP1	11	128807455	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20865	128807455	6199061	12454	14600											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527272.1_Nonsense_Mutation_p.R1601*|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.R1601*|ARHGAP32_ENST00000524655.1_3'UTR	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													116	417					0	0	1	0	0	A	128839218	G	A	128839218	4	1	22	1	0	0	0	0	0	1	0	0	878	1095	38	1	419	1	ARHGAP32	11	128839218	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31763	128839218	6167298	12455	14601											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527272.1_Missense_Mutation_p.T1499M|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.T1499M|ARHGAP32_ENST00000524655.1_3'UTR	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													62	274					0	0	1	0	0	A	128839523	G	A	128839523	3	1	22	1	0	0	0	0	1	0	0	0	878	1145	40	1	724	1	ARHGAP32	11	128839523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	305	128839523	6166993	12456	14602											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	311					0	0	1	0	0	T	128844286	C	T	128844286	3	4	22	1	0	0	0	0	1	0	0	0	878	565	20	2	3511	2	ARHGAP32	11	128844286	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4763	128844286	6162230	12457	14603											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526127.1_Missense_Mutation_p.E90G|BARX2_ENST00000531946.1_Missense_Mutation_p.E113G	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													18	367					0	0	1	0	0	G	129321161	A	G	129321161	3	3	22	1	0	0	0	0	1	0	0	0	1314	304	11	3	718	3	BARX2	11	129321161	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	476875	129321161	5685355	12458	14604											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526082.1_Silent_p.T830T|PRDM10_ENST00000528746.1_Silent_p.T886T|PRDM10_ENST00000360871.3_Silent_p.T912T|PRDM10_ENST00000304538.6_Silent_p.T826T|PRDM10_ENST00000423662.2_Silent_p.T830T	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													206	1062					0	0	1	0	0	T	129784704	C	T	129784704	2	4	22	1	0	0	0	0	0	0	0	1	12503	755	27	1		1	PRDM10	11	129784704	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	463543	129784704	5221812	12459	14605											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526082.1_Nonsense_Mutation_p.Q594*|PRDM10_ENST00000528746.1_Nonsense_Mutation_p.Q650*|PRDM10_ENST00000360871.3_Nonsense_Mutation_p.Q676*|PRDM10_ENST00000304538.6_Nonsense_Mutation_p.Q590*|PRDM10_ENST00000423662.2_Nonsense_Mutation_p.Q594*	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)	8	29					0	0	1	0	0	A	129793151	G	A	129793151	4	1	22	1	0	0	0	0	0	1	0	0	12503	1328	46	2	1480	2	PRDM10	11	129793151	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8447	129793151	5213365	12460	14606											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526082.1_Missense_Mutation_p.S299N|PRDM10_ENST00000528746.1_Missense_Mutation_p.S359N|PRDM10_ENST00000360871.3_Missense_Mutation_p.S385N|PRDM10_ENST00000304538.6_Missense_Mutation_p.S299N|PRDM10_ENST00000423662.2_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													107	521					0	0	1	0	0	T	129804999	C	T	129804999	3	4	22	1	0	0	0	0	1	0	0	0	12503	797	28	2	2384	2	PRDM10	11	129804999	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11848	129804999	5201517	12461	14607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528499.1_Intron|APLP2_ENST00000278756.7_Silent_p.C345C|APLP2_ENST00000543137.1_Silent_p.C242C|APLP2_ENST00000539648.1_Intron|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													38	609					0	0	1	0	0	T	129993589	C	T	129993589	2	4	22	1	0	0	0	0	0	0	0	1	776	776	27	1		1	APLP2	11	129993589	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	188590	129993589	5012927	12462	14608											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528499.1_Missense_Mutation_p.E589K|APLP2_ENST00000278756.7_Missense_Mutation_p.E655K|APLP2_ENST00000543137.1_Missense_Mutation_p.E552K|APLP2_ENST00000539648.1_Missense_Mutation_p.E445K|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													36	190					0	0	1	0	0	A	130011402	G	A	130011402	3	1	22	1	0	0	0	0	1	0	0	0	776	1059	37	1	2031	1	APLP2	11	130011402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17813	130011402	4995114	12463	14609											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	41					0	0	1	0	0	A	130067743	G	A	130067743	2	1	22	1	0	0	0	0	0	0	0	1	15267	1103	39	1		1	ST14	11	130067743	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56341	130067743	4938773	12464	14610											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	300					0.00448238	0.00451339	1	1	0	T	130068436	G	T	130068436	3	4	22	1	0	0	0	0	1	0	0	0	15267	1232	43	2	1658	2	ST14	11	130068436	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	693	130068436	4938080	12465	14611											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	107					0	0	1	0	0	A	130106855	G	A	130106855	2	1	22	1	0	0	0	0	0	0	0	1	17604	1073	37	1		1	ZBTB44	11	130106855	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38419	130106855	4899661	12466	14612											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357899.4_Silent_p.T403T|ZBTB44_ENST00000530205.1_Silent_p.T403T|ZBTB44_ENST00000397753.1_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													13	57					0.000151284	0.000153739	1	1	0	T	130108397	G	T	130108397	2	4	22	1	0	0	0	0	0	0	0	1	17604	987	35	2		2	ZBTB44	11	130108397	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1542	130108397	4898119	12467	14613											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	416					1.89636e-67	2.40225e-67	1	1	0	T	130275525	G	T	130275525	2	4	22	1	0	0	0	0	0	0	0	1	271	987	35	2		2	ADAMTS8	11	130275525	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	167128	130275525	4730991	12468	14614											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	318					0	0	1	0	0	A	130281332	G	A	130281332	3	1	22	1	0	0	0	0	1	0	0	0	271	1145	40	1	955	1	ADAMTS8	11	130281332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5807	130281332	4725184	12469	14615											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													192	772					0	0	1	0	0	A	130288972	G	A	130288972	2	1	22	1	0	0	0	0	0	0	0	1	271	1368	48	2		2	ADAMTS8	11	130288972	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7640	130288972	4717544	12470	14616											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545537.1_Missense_Mutation_p.V209I|SNX19_ENST00000539184.1_Missense_Mutation_p.V412I|SNX19_ENST00000530356.1_Missense_Mutation_p.V349I|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000528555.1_Missense_Mutation_p.V349I|SNX19_ENST00000534726.1_Missense_Mutation_p.V209I|SNX19_ENST00000426933.2_Missense_Mutation_p.V137I	NM_014758.2	NP_055573.2	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													20	390					0	0	1	0	0	T	130748391	C	T	130748391	3	4	22	1	0	0	0	0	1	0	0	0	14944	478	17	2	77	2	SNX19	11	130748391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	459419	130748391	4258125	12471	14617											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.P319L|SNX19_ENST00000528555.1_Intron	NM_014758.2	NP_055573.2	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													13	485					0	0	1	0	0	A	130784879	G	A	130784879	3	1	22	1	0	0	0	0	1	0	0	0	14944	1348	47	2	2066	2	SNX19	11	130784879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36488	130784879	4221637	12472	14618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Silent_p.G214G|SNX19_ENST00000528555.1_Intron	NM_014758.2	NP_055573.2	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													42	183					0	0	1	0	0	A	130785193	G	A	130785193	2	1	22	1	0	0	0	0	0	0	0	1	14944	1074	38	1		1	SNX19	11	130785193	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	314	130785193	4221323	12473	14619											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374784.1_Missense_Mutation_p.R32C|NTM_ENST00000425719.2_Missense_Mutation_p.R32C|NTM_ENST00000427481.2_Missense_Mutation_p.R23C|NTM_ENST00000374791.3_Missense_Mutation_p.R32C|NTM_ENST00000539799.1_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)	22	491					0	0	1	0	0	T	131781469	C	T	131781469	3	4	22	1	0	0	0	0	1	0	0	0	10747	768	27	1	182	1	NTM	11	131781469	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	996276	131781469	3225047	12474	14620											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374784.1_Missense_Mutation_p.L84M|NTM_ENST00000425719.2_Missense_Mutation_p.L84M|NTM_ENST00000427481.2_Missense_Mutation_p.L75M|NTM_ENST00000374791.3_Missense_Mutation_p.L84M|NTM_ENST00000539799.1_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													7	352					8.12818e-05	8.2724e-05	1	1	0	A	132016258	C	A	132016258	3	1	22	1	0	0	0	0	1	0	0	0	10747	680	24	2	342	2	NTM	11	132016258	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	234789	132016258	2990258	12475	14621											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374784.1_Silent_p.R162R|NTM_ENST00000425719.2_Silent_p.R162R|NTM_ENST00000427481.2_Silent_p.R153R|NTM_ENST00000374791.3_Silent_p.R162R|NTM_ENST00000539799.1_Silent_p.R162R|NTM_ENST00000474900.1_3'UTR	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													8	337					0	0	1	0	0	G	132082001	A	G	132082001	2	3	22	1	0	0	0	0	0	0	0	1	10747	272	10	3		3	NTM	11	132082001	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65743	132082001	2924515	12476	14622											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374784.1_Missense_Mutation_p.E200K|NTM_ENST00000425719.2_Missense_Mutation_p.E200K|NTM_ENST00000427481.2_Missense_Mutation_p.E191K|NTM_ENST00000374791.3_Missense_Mutation_p.E200K|NTM_ENST00000539799.1_Missense_Mutation_p.E200K|NTM_ENST00000474900.1_3'UTR	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													52	218					0	0	1	0	0	A	132177654	G	A	132177654	3	1	22	1	0	0	0	0	1	0	0	0	10747	1059	37	1	698	1	NTM	11	132177654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95653	132177654	2828862	12477	14623											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132812820C>T	ENST00000331898.7	-	1	746		c.e1+1		OPCML_ENST00000529038.1_Intron|OPCML_ENST00000374778.4_Splice_Site|OPCML_ENST00000541867.1_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													64	388					0	0	1	0	0	T	132812820	C	T	132812820	5	4	22	1	0	0	0	0	0	0	1	0	10922	521	18	2	897	2	OPCML	11	132812820	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	635166	132812820	2193696	12478	14624											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000529038.1_Intron|OPCML_ENST00000374778.4_Missense_Mutation_p.N3S|OPCML_ENST00000541867.1_Missense_Mutation_p.N44S|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													83	435					0	0	1	0	0	C	132812857	T	C	132812857	3	2	22	1	0	0	0	0	1	0	0	0	10922	1725	60	3	934	3	OPCML	11	132812857	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37	132812857	2193659	12479	14625											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	370					0	0	1	0	0	T	133790142	C	T	133790142	3	4	22	1	0	0	0	0	1	0	0	0	7650	652	23	1	579	1	IGSF9B	11	133790142	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	977285	133790142	1216374	12480	14626											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	411					0	0	1	0	0	G	133790553	T	G	133790553	3	3	22	1	0	0	0	0	1	0	0	0	7650	1580	55	3	990	3	IGSF9B	11	133790553	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	411	133790553	1215963	12481	14627											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	267					0	0	1	0	0	T	133790610	C	T	133790610	3	4	22	1	0	0	0	0	1	0	0	0	7650	893	31	1	1047	1	IGSF9B	11	133790610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57	133790610	1215906	12482	14628											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	271					1.24833e-42	1.5209e-42	1	1	0	A	133790821	C	A	133790821	3	1	22	1	0	0	0	0	1	0	0	0	7650	796	28	2	1258	2	IGSF9B	11	133790821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211	133790821	1215695	12483	14629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	126					0	0	1	0	0	G	133791235	T	G	133791235	3	3	22	1	0	0	0	0	1	0	0	0	7650	1490	52	3	1672	3	IGSF9B	11	133791235	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	414	133791235	1215281	12484	14630											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	79					0	0	1	0	0	T	133795814	C	T	133795814	2	4	22	1	0	0	0	0	0	0	0	1	7650	871	31	1		1	IGSF9B	11	133795814	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4579	133795814	1210702	12485	14631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	163					0	0	1	0	0	T	133801989	C	T	133801989	3	4	22	1	0	0	0	0	1	0	0	0	7650	652	23	1	3010	1	IGSF9B	11	133801989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6175	133801989	1204527	12486	14632											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	146					0	0	1	0	0	T	133814213	C	T	133814213	3	4	22	1	0	0	0	0	1	0	0	0	7650	768	27	1	3806	1	IGSF9B	11	133814213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12224	133814213	1192303	12487	14633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	64					0	0	1	0	0	G	133815997	T	G	133815997	3	3	22	1	0	0	0	0	1	0	0	0	7650	1609	56	3	3900	3	IGSF9B	11	133815997	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1784	133815997	1190519	12488	14634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	548					0	0	1	0	0	C	134037948	A	C	134037948	3	2	22	1	0	0	0	0	1	0	0	0	10253	214	8	3	1016	3	NCAPD3	11	134037948	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	221951	134037948	968568	12489	14635											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	132					0	0	1	0	0	A	134055268	G	A	134055268	2	1	22	1	0	0	0	0	0	0	0	1	10253	1020	36	2		2	NCAPD3	11	134055268	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17320	134055268	951248	12490	14636											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	362					0	0	1	0	0	T	134073691	C	T	134073691	2	4	22	1	0	0	0	0	0	0	0	1	10253	564	20	2		2	NCAPD3	11	134073691	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18423	134073691	932825	12491	14637											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134074865C>T	ENST00000534548.2	-	9	1082	c.1016_splice	c.e9-1	p.A340_splice		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													56	304					0	0	1	0	0	T	134074865	C	T	134074865	5	4	22	1	0	0	0	0	0	0	1	0	10253	782	27	1	3586	1	NCAPD3	11	134074865	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1174	134074865	931651	12492	14638											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	404					0	0	1	0	0	A	134076509	G	A	134076509	3	1	22	1	0	0	0	0	1	0	0	0	10253	1087	38	1	3607	1	NCAPD3	11	134076509	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1644	134076509	930007	12493	14639											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													145	652					0	0	1	0	0	A	134079098	G	A	134079098	2	1	22	1	0	0	0	0	0	0	0	1	10253	929	33	2		2	NCAPD3	11	134079098	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2589	134079098	927418	12494	14640											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525095.2_Missense_Mutation_p.S153R|VPS26B_ENST00000530402.1_3'UTR	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													67	321					5.10652e-33	6.04401e-33	1	1	0	A	134109963	C	A	134109963	3	1	22	1	0	0	0	0	1	0	0	0	17258	709	25	2	469	2	VPS26B	11	134109963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30865	134109963	896553	12495	14641											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525095.2_Silent_p.K203K|VPS26B_ENST00000530402.1_3'UTR	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													51	304					0	0	1	0	0	A	134113076	G	A	134113076	2	1	22	1	0	0	0	0	0	0	0	1	17258	962	34	2		2	VPS26B	11	134113076	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3113	134113076	893440	12496	14642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	105					0	0	1	0	0	A	134115478	G	A	134115478	2	1	22	1	0	0	0	0	0	0	0	1	17258	1194	42	2		2	VPS26B	11	134115478	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2402	134115478	891038	12497	14643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543332.1_5'UTR|ACAD8_ENST00000537423.1_5'UTR|ACAD8_ENST00000374752.4_Silent_p.L2L	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													8	34					0	0	1	0	0	T	134123498	C	T	134123498	2	4	22	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	12498	14644											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	86					0	0	1	0	0	A	134183877	G	A	134183877	3	1	22	1	0	0	0	0	1	0	0	0	6472	1203	42	2	1688	2	GLB1L3	11	134183877	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60379	134183877	822639	12499	14645											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134238539G>T	ENST00000535456.2	+	10	1079	c.889_splice	c.e10-1	p.E297_splice	GLB1L2_ENST00000339772.7_Splice_Site_p.E297_splice|GLB1L2_ENST00000389881.3_Splice_Site_p.E297_splice|GLB1L2_ENST00000529077.1_3'UTR	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													34	406					4.4194e-11	4.70867e-11	1	1	0	T	134238539	G	T	134238539	5	4	22	1	0	0	0	0	0	0	1	0	6471	1014	35	2	929	2	GLB1L2	11	134238539	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54662	134238539	767977	12500	14646											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389881.3_Missense_Mutation_p.G580D|GLB1L2_ENST00000529077.1_3'UTR	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													111	574					0	0	1	0	0	A	134244527	G	A	134244527	3	1	22	1	0	0	0	0	1	0	0	0	6471	1203	42	2	1809	2	GLB1L2	11	134244527	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5988	134244527	761989	12501	14647											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392580.1_Missense_Mutation_p.V11I|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000312527.4_Missense_Mutation_p.V11I|B3GAT1_ENST00000537389.1_Missense_Mutation_p.V24I			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													48	279					0	0	1	0	0	T	134257523	C	T	134257523	3	4	22	1	0	0	0	0	1	0	0	0	1251	536	19	1	989	1	B3GAT1	11	134257523	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12996	134257523	748993	12502	14648											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	124					1.50039e-11	1.60151e-11	1	1	0	T	176596	G	T	176596	3	4	22	1	0	0	0	0	1	0	0	0	7863	942	33	2	550	2	IQSEC3	12	176596	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08		176596	133675299	12503	14649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	IQSEC3_ENST00000326261.4_Nonsense_Mutation_p.R693*|RP11-598F7.4_ENST00000505893.2_RNA|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													63	450					0	0	1	0	0	T	250375	C	T	250375	4	4	22	1	0	0	0	0	0	1	0	0	7863	760	27	1	2095	1	IQSEC3	12	250375	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73779	250375	133601520	12504	14650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	100					9.04412e-07	9.34585e-07	1	1	0	A	271138	C	A	271138	2	1	22	1	0	0	0	0	0	0	0	1	7863	903	32	2		2	IQSEC3	12	271138	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20763	271138	133580757	12505	14651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000382841.2_Silent_p.D662D|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													51	202					0	0	1	0	0	T	274980	C	T	274980	2	4	22	1	0	0	0	0	0	0	0	1	7863	535	19	1		1	IQSEC3	12	274980	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3842	274980	133576915	12506	14652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	155					0	0	1	0	0	T	330167	C	T	330167	3	4	22	1	0	0	0	0	1	0	0	0	14731	768	27	1	56	1	SLC6A13	12	330167	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55187	330167	133521728	12507	14653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								35	171					0	0	1	0	0	A	432350	G	A	432350	3	1	22	1	0	0	0	0	1	0	0	0	8176	1000	35	2	2951	2	KDM5A	12	432350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102183	432350	133419545	12508	14654											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	238					0	0	1	0	0	T	657400	C	T	657400	4	4	22	1	0	0	0	0	0	1	0	0	1266	760	27	1	824	1	B4GALNT3	12	657400	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	225050	657400	133194495	12509	14655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	148					0	0	1	0	0	T	665887	C	T	665887	2	4	22	1	0	0	0	0	0	0	0	1	1266	871	31	1		1	B4GALNT3	12	665887	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8487	665887	133186008	12510	14656											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000530271.2_Nonsense_Mutation_p.Q1245*|WNK1_ENST00000535572.1_Nonsense_Mutation_p.Q746*|WNK1_ENST00000315939.6_Nonsense_Mutation_p.Q747*|WNK1_ENST00000340908.4_Nonsense_Mutation_p.Q340*	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													56	382					0	0	1	0	0	T	987393	C	T	987393	4	4	22	1	0	0	0	0	0	1	0	0	17437	711	25	2	3779	2	WNK1	12	987393	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	321506	987393	132864502	12511	14657											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543086.3_Missense_Mutation_p.S185I|ERC1_ENST00000546231.2_Missense_Mutation_p.S185I|ERC1_ENST00000360905.4_Missense_Mutation_p.S185I|ERC1_ENST00000589028.1_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													50	257					1.4374e-25	1.6504e-25	1	1	0	T	1137623	G	T	1137623	3	4	22	1	0	0	0	0	1	0	0	0	5238	971	34	2	556	2	ERC1	12	1137623	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	150230	1137623	132714272	12512	14658											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543086.3_Missense_Mutation_p.R419S|ERC1_ENST00000546231.2_Missense_Mutation_p.R419S|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Missense_Mutation_p.R419S|ERC1_ENST00000589028.1_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													52	282					4.17463e-26	4.80398e-26	1	1	0	T	1219453	G	T	1219453	3	4	22	1	0	0	0	0	1	0	0	0	5238	1223	43	2	1271	2	ERC1	12	1219453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81830	1219453	132632442	12513	14659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543086.3_Missense_Mutation_p.K535N|ERC1_ENST00000546231.2_Missense_Mutation_p.K563N|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Missense_Mutation_p.K563N|ERC1_ENST00000589028.1_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													34	176					2.47316e-13	2.66891e-13	1	1	0	T	1250905	G	T	1250905	3	4	22	1	0	0	0	0	1	0	0	0	5238	991	35	2	1715	2	ERC1	12	1250905	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31452	1250905	132600990	12514	14660											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543086.3_Silent_p.E642E|ERC1_ENST00000546231.2_Silent_p.E670E|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Silent_p.E670E|ERC1_ENST00000589028.1_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													14	152					0	0	1	0	0	A	1291225	G	A	1291225	2	1	22	1	0	0	0	0	0	0	0	1	5238	933	33	2		2	ERC1	12	1291225	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40320	1291225	132560670	12515	14661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543086.3_Nonsense_Mutation_p.R788*|ERC1_ENST00000546231.2_Nonsense_Mutation_p.R820*|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Nonsense_Mutation_p.R816*|ERC1_ENST00000589028.1_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													15	155					0	0	1	0	0	T	1346029	C	T	1346029	4	4	22	1	0	0	0	0	0	1	0	0	5238	528	19	1	2492	1	ERC1	12	1346029	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54804	1346029	132505866	12516	14662											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000310594.3_Silent_p.C48C|WNT5B_ENST00000537031.1_Silent_p.C48C|WNT5B_ENST00000542408.1_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													117	715					0	0	1	0	0	T	1741887	C	T	1741887	2	4	22	1	0	0	0	0	0	0	0	1	17452	718	25	2		2	WNT5B	12	1741887	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	395858	1741887	132110008	12517	14663											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000586184.1_Missense_Mutation_p.A490T|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A490T|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A426T|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													19	120					0	0	1	0	0	T	1992050	C	T	1992050	3	4	22	1	0	0	0	0	1	0	0	0	2569	739	26	2	2049	2	CACNA2D4	12	1992050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	250163	1992050	131859845	12518	14664											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	199					0	0	1	0	0	A	2055426	G	A	2055426	2	1	22	1	0	0	0	0	0	0	0	1	4322	932	33	2		2	DCP1B	12	2055426	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63376	2055426	131796469	12519	14665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.R242C|DCP1B_ENST00000540622.1_Missense_Mutation_p.R218C	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													86	310					0	0	1	0	0	A	2062076	G	A	2062076	3	1	22	1	0	0	0	0	1	0	0	0	4322	1058	37	1	835	1	DCP1B	12	2062076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6650	2062076	131789819	12520	14666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.P144H|DCP1B_ENST00000540622.1_Missense_Mutation_p.P120H	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													55	229					2.23322e-12	2.39693e-12	1	1	0	T	2062369	G	T	2062369	3	4	22	1	0	0	0	0	1	0	0	0	4322	1000	35	2	1128	2	DCP1B	12	2062369	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	293	2062369	131789526	12521	14667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541700.1_Intron|DCP1B_ENST00000397173.4_Missense_Mutation_p.T75A|DCP1B_ENST00000540622.1_Missense_Mutation_p.T51A	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													82	512					0	0	1	0	0	C	2064720	T	C	2064720	3	2	22	1	0	0	0	0	1	0	0	0	4322	1725	60	3	1340	3	DCP1B	12	2064720	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2351	2064720	131787175	12522	14668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399629.1_Silent_p.S1127S|CACNA1C_ENST00000399637.1_Silent_p.S1127S|CACNA1C_ENST00000399595.1_Silent_p.S1127S|CACNA1C_ENST00000480911.1_Silent_p.S1127S|CACNA1C_ENST00000399601.1_Silent_p.S1127S|CACNA1C_ENST00000399649.1_Silent_p.S1127S|CACNA1C_ENST00000402845.3_Silent_p.S1127S|CACNA1C_ENST00000399606.1_Silent_p.S1147S|CACNA1C_ENST00000406454.3_Silent_p.S1127S|CACNA1C_ENST00000399634.1_Silent_p.S1127S|CACNA1C_ENST00000399621.1_Silent_p.S1127S|CACNA1C_ENST00000399644.1_Silent_p.S1127S|CACNA1C_ENST00000399617.1_Silent_p.S1127S|CACNA1C_ENST00000335762.5_Silent_p.S1152S|CACNA1C_ENST00000399591.1_Silent_p.S1127S|CACNA1C_ENST00000344100.3_Silent_p.S1127S|CACNA1C_ENST00000399597.1_Silent_p.S1127S|CACNA1C_ENST00000327702.7_Silent_p.S1127S|CACNA1C_ENST00000399638.1_Silent_p.S1127S|CACNA1C_ENST00000399641.1_Silent_p.S1127S|CACNA1C_ENST00000347598.4_Silent_p.S1147S|CACNA1C_ENST00000399603.1_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													25	75					1.10923e-09	1.16946e-09	1	1	0	A	2717701	C	A	2717701	2	1	22	1	0	0	0	0	0	0	0	1	2558	610	22	2		2	CACNA1C	12	2717701	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	652981	2717701	131134194	12523	14669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399629.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1270T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1275T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A1270T|CACNA1C_ENST00000399603.1_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													22	185					0	0	1	0	0	A	2721099	G	A	2721099	3	1	22	1	0	0	0	0	1	0	0	0	2558	1087	38	1	4034	1	CACNA1C	12	2721099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3398	2721099	131130796	12524	14670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399629.1_Nonsense_Mutation_p.W1368*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.W1340*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.W1338*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.W1371*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.W1376*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.W1340*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.W1373*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.W1379*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000347598.4_Nonsense_Mutation_p.W1399*|CACNA1C_ENST00000399603.1_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													20	199					0	0	1	0	0	A	2760913	G	A	2760913	4	1	22	1	0	0	0	0	0	1	0	0	2558	1183	41	2	4505	2	CACNA1C	12	2760913	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39814	2760913	131090982	12525	14671											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399629.1_Missense_Mutation_p.T1462P|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1434P|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1432P|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1465P|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1470P|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1434P|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1467P|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1473P|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T1493P|CACNA1C_ENST00000399603.1_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													24	143					0	0	1	0	0	C	2774091	A	C	2774091	3	2	22	1	0	0	0	0	1	0	0	0	2558	43	2	3	4797	3	CACNA1C	12	2774091	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13178	2774091	131077804	12526	14672											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399629.1_Missense_Mutation_p.R1554C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1526C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1524C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1557C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1562C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1526C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1559C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1565C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R1585C|CACNA1C_ENST00000399603.1_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													13	51					0	0	1	0	0	T	2775934	C	T	2775934	3	4	22	1	0	0	0	0	1	0	0	0	2558	652	23	1	5081	1	CACNA1C	12	2775934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1843	2775934	131075961	12527	14673											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399629.1_Silent_p.G1810G|CACNA1C_ENST00000399637.1_Silent_p.G1812G|CACNA1C_ENST00000399595.1_Silent_p.G1801G|CACNA1C_ENST00000399601.1_Silent_p.G1793G|CACNA1C_ENST00000399649.1_Silent_p.G1799G|CACNA1C_ENST00000402845.3_Silent_p.G1812G|CACNA1C_ENST00000399606.1_Silent_p.G1813G|CACNA1C_ENST00000406454.3_Silent_p.G1793G|CACNA1C_ENST00000399634.1_Silent_p.G1793G|CACNA1C_ENST00000399621.1_Silent_p.G1812G|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399644.1_Silent_p.G1793G|CACNA1C_ENST00000399617.1_Silent_p.G1793G|CACNA1C_ENST00000335762.5_Silent_p.G1818G|CACNA1C_ENST00000399591.1_Silent_p.G1801G|CACNA1C_ENST00000344100.3_Silent_p.G1834G|CACNA1C_ENST00000399597.1_Silent_p.G1793G|CACNA1C_ENST00000327702.7_Silent_p.G1793G|CACNA1C_ENST00000399638.1_Silent_p.G1821G|CACNA1C_ENST00000399641.1_Silent_p.G1793G|CACNA1C_ENST00000347598.4_Silent_p.G1841G|CACNA1C_ENST00000399603.1_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													11	58					0	0	1	0	0	T	2788897	C	T	2788897	2	4	22	1	0	0	0	0	0	0	0	1	2558	726	26	2		2	CACNA1C	12	2788897	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12963	2788897	131062998	12528	14674											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2795331G>T	ENST00000399655.1	+	45	5945		c.e45-1		CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000347598.4_Splice_Site|CACNA1C_ENST00000399603.1_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													65	324					4.45325e-31	5.23636e-31	1	1	0	T	2795331	G	T	2795331	5	4	22	1	0	0	0	0	0	0	1	0	2558	1014	35	2	6567	2	CACNA1C	12	2795331	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6434	2795331	131056564	12529	14675	95	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399629.1_Silent_p.R1913R|CACNA1C_ENST00000399637.1_Silent_p.R1915R|CACNA1C_ENST00000399595.1_Silent_p.R1904R|CACNA1C_ENST00000399601.1_Silent_p.R1896R|CACNA1C_ENST00000399649.1_Silent_p.R1902R|CACNA1C_ENST00000402845.3_Silent_p.R1915R|CACNA1C_ENST00000399606.1_Silent_p.R1916R|CACNA1C_ENST00000406454.3_Silent_p.R1967R|CACNA1C_ENST00000399634.1_Silent_p.R1967R|CACNA1C_ENST00000399621.1_Silent_p.R1915R|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399644.1_Silent_p.R1896R|CACNA1C_ENST00000399617.1_Silent_p.R1931R|CACNA1C_ENST00000335762.5_Silent_p.R1921R|CACNA1C_ENST00000399591.1_Silent_p.R1904R|CACNA1C_ENST00000344100.3_Silent_p.R1937R|CACNA1C_ENST00000399597.1_Silent_p.R1896R|CACNA1C_ENST00000327702.7_Silent_p.R1931R|CACNA1C_ENST00000399638.1_Silent_p.R1924R|CACNA1C_ENST00000399641.1_Silent_p.R1896R|CACNA1C_ENST00000347598.4_Silent_p.R1944R|CACNA1C_ENST00000399603.1_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													65	358					0	0	1	0	0	A	2795339	G	A	2795339	2	1	22	1	0	0	0	0	0	0	0	1	2558	1223	43	2		2	CACNA1C	12	2795339	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	2795339	131056556	12530	14676	95	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399629.1_Missense_Mutation_p.A2039D|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A2041D|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A2030D|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A2028D|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A2041D|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A2042D|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A2093D|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A2093D|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A2041D|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A2057D|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A2047D|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A2030D|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A2063D|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A2057D|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A2050D|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A2070D|CACNA1C_ENST00000399603.1_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													21	92					0.000132079	0.000134276	1	1	0	A	2797893	C	A	2797893	3	1	22	1	0	0	0	0	1	0	0	0	2558	797	28	2	6956	2	CACNA1C	12	2797893	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2554	2797893	131054002	12531	14677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_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													105	515					0	0	1	0	0	A	2907877	G	A	2907877	2	1	22	1	0	0	0	0	0	0	0	1	5943	1020	36	2		2	FKBP4	12	2907877	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109984	2907877	130944018	12532	14678											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	563					0	0	1	0	0	T	2973867	C	T	2973867	3	4	22	1	0	0	0	0	1	0	0	0	6052	893	31	1	1349	1	FOXM1	12	2973867	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65990	2973867	130878028	12533	14679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358409.2_Missense_Mutation_p.R83H|TEAD4_ENST00000397122.2_5'UTR	NM_003213.3	NP_003204.2	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													95	363					0	0	1	0	0	A	3120191	G	A	3120191	3	1	22	1	0	0	0	0	1	0	0	0	15800	1087	38	1	254	1	TEAD4	12	3120191	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146324	3120191	130731704	12534	14680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3121335G>T	ENST00000359864.2	+	5	481		c.e5-1		TEAD4_ENST00000358409.2_Splice_Site|TEAD4_ENST00000397122.2_Splice_Site	NM_003213.3	NP_003204.2	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													24	132					3.65163e-15	3.98403e-15	1	1	0	T	3121335	G	T	3121335	5	4	22	1	0	0	0	0	0	0	1	0	15800	1014	35	2	301	2	TEAD4	12	3121335	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1144	3121335	130730560	12535	14681											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537971.1_Missense_Mutation_p.T67M|TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000407263.1_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													88	397					0	0	1	0	0	T	3387723	C	T	3387723	3	4	22	1	0	0	0	0	1	0	0	0	16715	536	19	1	206	1	TSPAN9	12	3387723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	266388	3387723	130464172	12536	14682											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	202					0	0	1	0	0	T	3789439	C	T	3789439	3	4	22	1	0	0	0	0	1	0	0	0	4963	739	26	2	2146	2	EFCAB4B	12	3789439	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	401716	3789439	130062456	12537	14683											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000476985.1_5'UTR|PARP11_ENST00000447133.3_Missense_Mutation_p.L75I|PARP11_ENST00000397096.2_Missense_Mutation_p.L149I|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													81	313					1.34917e-44	1.65118e-44	1	1	0	T	3931121	G	T	3931121	3	4	22	1	0	0	0	0	1	0	0	0	11503	942	33	2	562	2	PARP11	12	3931121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141682	3931121	129920774	12538	14684											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	315					0	0	1	0	0	T	3939112	C	T	3939112	3	4	22	1	0	0	0	0	1	0	0	0	11503	913	32	2	953	2	PARP11	12	3939112	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7991	3939112	129912783	12539	14685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								62	279					0	0	1	0	0	A	4385201	G	A	4385201	3	1	22	1	0	0	0	0	1	0	0	0	2939	1261	44	2	232	2	CCND2	12	4385201	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	446089	4385201	129466694	12540	14686											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								64	282					0	0	1	0	0	T	4385275	C	T	4385275	2	4	22	1	0	0	0	0	0	0	0	1	2939	842	30	2		2	CCND2	12	4385275	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74	4385275	129466620	12541	14687											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	265					0	0	1	0	0	T	4460469	C	T	4460469	2	4	22	1	0	0	0	0	0	0	0	1	1700	796	28	2		2	C12orf5	12	4460469	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75194	4460469	129391426	12542	14688											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	587					0	0	1	0	0	T	4479908	C	T	4479908	2	4	22	1	0	0	0	0	0	0	0	1	5885	755	27	1		1	FGF23	12	4479908	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19439	4479908	129371987	12543	14689											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	474					7.62596e-35	9.08233e-35	1	1	0	A	4488548	C	A	4488548	3	1	22	1	0	0	0	0	1	0	0	0	5885	912	32	2	566	2	FGF23	12	4488548	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8640	4488548	129363347	12544	14690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545746.1_Missense_Mutation_p.R419Q|C12orf4_ENST00000509318.2_5'UTR	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													25	213					0	0	1	0	0	T	4609488	C	T	4609488	3	4	22	1	0	0	0	0	1	0	0	0	1691	652	23	1	418	1	C12orf4	12	4609488	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120940	4609488	129242407	12545	14691											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	334					0	0	1	0	0	C	4634664	A	C	4634664	3	2	22	1	0	0	0	0	1	0	0	0	1691	14	1	3	1106	3	C12orf4	12	4634664	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25176	4634664	129217231	12546	14692											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543041.1_5'UTR|RAD51AP1_ENST00000544927.1_Nonsense_Mutation_p.E42*|RAD51AP1_ENST00000352618.4_Nonsense_Mutation_p.E42*|RAD51AP1_ENST00000321524.7_Nonsense_Mutation_p.E42*	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													44	196					1.06522e-23	1.21267e-23	1	1	0	T	4652985	G	T	4652985	4	4	22	1	0	0	0	0	0	1	0	0	13038	1175	41	2	134	2	RAD51AP1	12	4652985	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18321	4652985	129198910	12547	14693											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003845.1	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													80	347					1.04643e-32	1.23697e-32	1	1	0	T	4708305	G	T	4708305	3	4	22	1	0	0	0	0	1	0	0	0	4884	933	33	2	690	2	DYRK4	12	4708305	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55320	4708305	129143590	12548	14694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003845.1	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)	15	316					0	0	1	0	0	T	4714099	C	T	4714099	2	4	22	1	0	0	0	0	0	0	0	1	4884	738	26	2		2	DYRK4	12	4714099	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5794	4714099	129137796	12549	14695											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	DYRK4_ENST00000545342.1_Missense_Mutation_p.R41W|DYRK4_ENST00000010132.5_Missense_Mutation_p.R404W|DYRK4_ENST00000543431.1_Missense_Mutation_p.R404W	NM_003845.1	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													86	467					0	0	1	0	0	T	4721773	C	T	4721773	3	4	22	1	0	0	0	0	1	0	0	0	4884	875	31	1	1248	1	DYRK4	12	4721773	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7674	4721773	129130122	12550	14696											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	DYRK4_ENST00000545342.1_Silent_p.T94T|DYRK4_ENST00000010132.5_Silent_p.T457T|DYRK4_ENST00000543431.1_Silent_p.T456T	NM_003845.1	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													22	269					0	0	1	0	0	A	4722727	G	A	4722727	2	1	22	1	0	0	0	0	0	0	0	1	4884	1045	37	1		1	DYRK4	12	4722727	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	954	4722727	129129168	12551	14697											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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													42	242					1.07121e-22	1.21384e-22	1	1	0	T	4737071	G	T	4737071	3	4	22	1	0	0	0	0	1	0	0	0	449	942	33	2	1572	2	AKAP3	12	4737071	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14344	4737071	129114824	12552	14698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	140					3.54909e-21	3.99219e-21	1	1	0	A	4796197	C	A	4796197	3	1	22	1	0	0	0	0	1	0	0	0	10319	796	28	2	1099	2	NDUFA9	12	4796197	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59126	4796197	129055698	12553	14699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	341					0	0	1	0	0	T	4835936	C	T	4835936	2	4	22	1	0	0	0	0	0	0	0	1	6259	535	19	1		1	GALNT8	12	4835936	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39739	4835936	129015959	12554	14700											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	212					4.25531e-23	4.83061e-23	1	1	0	T	4874633	G	T	4874633	3	4	22	1	0	0	0	0	1	0	0	0	6259	1203	42	2	1720	2	GALNT8	12	4874633	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38697	4874633	128977262	12555	14701											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	168					0	0	1	0	0	T	4881757	C	T	4881757	2	4	22	1	0	0	0	0	0	0	0	1	6259	738	26	2		2	GALNT8	12	4881757	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7124	4881757	128970138	12556	14702											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			85	422					3.05217e-42	3.71447e-42	1	1	0	T	4919450	G	T	4919450	3	4	22	1	0	0	0	0	1	0	0	0	8051	1165	41	2	245	2	KCNA6	12	4919450	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37693	4919450	128932445	12557	14703											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			77	333					0	0	1	0	0	A	4920607	G	A	4920607	3	1	22	1	0	0	0	0	1	0	0	0	8051	1116	39	1	1402	1	KCNA6	12	4920607	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1157	4920607	128931288	12558	14704											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	502					0	0	1	0	0	A	5021052	G	A	5021052	3	1	22	1	0	0	0	0	1	0	0	0	8045	1087	38	1	510	1	KCNA1	12	5021052	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100445	5021052	128830843	12559	14705											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	480					0	0	1	0	0	G	5021067	A	G	5021067	3	3	22	1	0	0	0	0	1	0	0	0	8045	217	8	3	525	3	KCNA1	12	5021067	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15	5021067	128830828	12560	14706											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	89					0	0	1	0	0	A	5153586	G	A	5153586	2	1	22	1	0	0	0	0	0	0	0	1	8050	1074	38	1		1	KCNA5	12	5153586	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132519	5153586	128698309	12561	14707											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356134.5_Missense_Mutation_p.T510M|ANO2_ENST00000538154.1_5'UTR|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													34	187					0	0	1	0	0	A	5841705	G	A	5841705	3	1	22	1	0	0	0	0	1	0	0	0	691	1145	40	1	1518	1	ANO2	12	5841705	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	688119	5841705	128010190	12562	14708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	167					0	0	1	0	0	A	5941725	G	A	5941725	2	1	22	1	0	0	0	0	0	0	0	1	691	1078	38	1		1	ANO2	12	5941725	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100020	5941725	127910170	12563	14709											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	264					3.76997e-23	4.28119e-23	1	1	0	A	6030260	C	A	6030260	3	1	22	1	0	0	0	0	1	0	0	0	691	680	24	2	2624	2	ANO2	12	6030260	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88535	6030260	127821635	12564	14710											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000543.2	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													41	192					0	0	1	0	0	T	6125267	C	T	6125267	3	4	22	1	0	0	0	0	1	0	0	0	17306	768	27	1	3086	1	VWF	12	6125267	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95007	6125267	127726628	12565	14711											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000543.2	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													63	440					0	0	1	0	0	T	6128448	C	T	6128448	3	4	22	1	0	0	0	0	1	0	0	0	17306	768	27	1	4405	1	VWF	12	6128448	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3181	6128448	127723447	12566	14712											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545906.1_5'UTR|VWF_ENST00000261405.5_Intron			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													61	383					2.60599e-31	3.06669e-31	1	1	0	A	6232045	C	A	6232045	3	1	22	1	0	0	0	0	1	0	0	0	17306	696	24	2		2	VWF	12	6232045	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103597	6232045	127619850	12567	14713											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382515.2_5'UTR|CD9_ENST00000009180.4_Silent_p.E46E|CD9_ENST00000481267.1_3'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													74	287					0	0	1	0	0	A	6334663	G	A	6334663	2	1	22	1	0	0	0	0	0	0	0	1	3068	962	34	2		2	CD9	12	6334663	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102618	6334663	127517232	12568	14714											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536531.1_Missense_Mutation_p.F116L|PLEKHG6_ENST00000396988.3_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													70	474					0	0	1	0	0	C	6424222	T	C	6424222	3	2	22	1	0	0	0	0	1	0	0	0	12122	1725	60	3	402	3	PLEKHG6	12	6424222	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	89559	6424222	127427673	12569	14715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	85					0	0	1	0	0	A	6438717	G	A	6438717	3	1	22	1	0	0	0	0	1	0	0	0	16353	1087	38	1	242	1	TNFRSF1A	12	6438717	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14495	6438717	127413178	12570	14716											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437813.3_5'UTR|TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.V81M|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													32	155					0	0	1	0	0	T	6442635	C	T	6442635	3	4	22	1	0	0	0	0	1	0	0	0	16353	536	19	1	1025	1	TNFRSF1A	12	6442635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3918	6442635	127409260	12571	14717											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000228916.2_Missense_Mutation_p.R586Q|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000540037.1_Missense_Mutation_p.R286Q|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R609Q			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													14	219					0	0	1	0	0	T	6457292	C	T	6457292	3	4	22	1	0	0	0	0	1	0	0	0	13981	884	31	1	256	1	SCNN1A	12	6457292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14657	6457292	127394603	12572	14718											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6457894G>A	ENST00000358945.3	-	12	2134	c.1695_splice	c.e12+1	p.T565_splice	SCNN1A_ENST00000360168.3_Splice_Site_p.T602_splice|SCNN1A_ENST00000228916.2_Splice_Site_p.T543_splice|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000540037.1_Splice_Site_p.T243_splice|SCNN1A_ENST00000543768.1_Splice_Site_p.T566_splice			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													47	379					0	0	1	0	0	A	6457894	G	A	6457894	5	1	22	1	0	0	0	0	0	0	1	0	13981	1159	40	1	389	1	SCNN1A	12	6457894	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	602	6457894	127394001	12573	14719											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	265					1.22119e-34	1.45331e-34	1	1	0	T	6567973	G	T	6567973	3	4	22	1	0	0	0	0	1	0	0	0	15610	1000	35	2	1085	2	TAPBPL	12	6567973	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110079	6567973	127283922	12574	14720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_Silent_p.H12H	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													175	892					0	0	1	0	0	A	6601500	G	A	6601500	2	1	22	1	0	0	0	0	0	0	0	1	9864	1368	48	2		2	MRPL51	12	6601500	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33527	6601500	127250395	12575	14721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	960					0	0	1	0	0	A	6618917	G	A	6618917	4	1	22	1	0	0	0	0	0	1	0	0	10252	1335	47	2	168	2	NCAPD2	12	6618917	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17417	6618917	127232978	12576	14722											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	401					0	0	1	0	0	T	6619865	C	T	6619865	2	4	22	1	0	0	0	0	0	0	0	1	10252	535	19	1		1	NCAPD2	12	6619865	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	948	6619865	127232030	12577	14723											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	977					0	0	1	0	0	A	6623541	G	A	6623541	3	1	22	1	0	0	0	0	1	0	0	0	10252	1145	40	1	720	1	NCAPD2	12	6623541	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3676	6623541	127228354	12578	14724											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	231					7.77372e-23	8.81276e-23	1	1	0	T	6626806	G	T	6626806	3	4	22	1	0	0	0	0	1	0	0	0	10252	933	33	2	1407	2	NCAPD2	12	6626806	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3265	6626806	127225089	12579	14725											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545962.1_Missense_Mutation_p.R952C|NCAPD2_ENST00000542492.1_3'UTR	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													125	637					0	0	1	0	0	T	6637024	C	T	6637024	3	4	22	1	0	0	0	0	1	0	0	0	10252	652	23	1	3075	1	NCAPD2	12	6637024	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10218	6637024	127214871	12580	14726											
IFFO1	25900	broad.mit.edu	37	chr12	6649704	6649706	+	In_Frame_Del	DEL	GGC	GGC	-													cggagtcctcagcctcgcttGgcggcggcggcgggtcgcta					rs144019095		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6649704_6649706delGGC	ENST00000436152.2	-	11	1273_1275	c.714_716delGCC	c.(712-717)cca>cc	p.PP238del	IFFO1_ENST00000336604.4_In_Frame_Del_p.PP544del|IFFO1_ENST00000396840.2_In_Frame_Del_p.PP541del|IFFO1_ENST00000356896.4_In_Frame_Del_p.PP545del|IFFO1_ENST00000465801.1_In_Frame_Del_p.PP237del			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	541						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						AGCCTCGCTTGGCGGCGGCGGCG	0.601													8	531	---	---	---	---						-	6649706	GGC	-	6649704	7	5	22	1	0	1	0	1	0	0	0	0	7554	1348	47	0	58	0	IFFO1	12	6649704	In_Frame_Del	DEL	GGC	TCGA-IB-7651-01A-11D-2154-08	12680	6649704	127202191	12581	14727											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	299					0	0	1	0	0	T	6664931	C	T	6664931	3	4	22	1	0	0	0	0	1	0	0	0	7554	739	26	2	1466	2	IFFO1	12	6664931	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15227	6664931	127186964	12582	14728											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000322166.5_Missense_Mutation_p.R431W|NOP2_ENST00000545200.1_Missense_Mutation_p.R427W|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Missense_Mutation_p.R464W|NOP2_ENST00000537442.1_Missense_Mutation_p.R431W|NOP2_ENST00000399466.2_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													38	140					0	0	1	0	0	A	6670153	G	A	6670153	3	1	22	1	0	0	0	0	1	0	0	0	10585	1057	37	1	1167	1	NOP2	12	6670153	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5222	6670153	127181742	12583	14729											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544484.1_Nonsense_Mutation_p.W1737*|CHD4_ENST00000357008.2_Nonsense_Mutation_p.W1712*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.W1705*			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													73	282					0	0	1	0	0	T	6687287	C	T	6687287	4	4	22	1	0	0	0	0	0	1	0	0	3349	740	26	2	622	2	CHD4	12	6687287	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17134	6687287	127164608	12584	14730											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544484.1_Missense_Mutation_p.P1558T|CHD4_ENST00000357008.2_Missense_Mutation_p.P1533T|CHD4_ENST00000544040.1_Missense_Mutation_p.P1526T|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													79	419					1.45978e-39	1.7657e-39	1	1	0	T	6690899	G	T	6690899	3	4	22	1	0	0	0	0	1	0	0	0	3349	1203	42	2	1181	2	CHD4	12	6690899	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3612	6690899	127160996	12585	14731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544484.1_Missense_Mutation_p.R1102Q|CHD4_ENST00000357008.2_Missense_Mutation_p.R1105Q|CHD4_ENST00000544040.1_Missense_Mutation_p.R1098Q			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													74	329					0	0	1	0	0	T	6700658	C	T	6700658	3	4	22	1	0	0	0	0	1	0	0	0	3349	652	23	1	2500	1	CHD4	12	6700658	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9759	6700658	127151237	12586	14732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544484.1_Missense_Mutation_p.N904H|CHD4_ENST00000357008.2_Missense_Mutation_p.N907H|CHD4_ENST00000544040.1_Missense_Mutation_p.N900H			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													16	377					0	0	1	0	0	G	6701917	T	G	6701917	3	3	22	1	0	0	0	0	1	0	0	0	3349	1841	64	3	3111	3	CHD4	12	6701917	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1259	6701917	127149978	12587	14733											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544484.1_Silent_p.K574K|CHD4_ENST00000357008.2_Silent_p.K577K|CHD4_ENST00000544040.1_Silent_p.K570K			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													184	733					0	0	1	0	0	T	6707221	C	T	6707221	2	4	22	1	0	0	0	0	0	0	0	1	3349	912	32	2		2	CHD4	12	6707221	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5304	6707221	127144674	12588	14734											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	94					0	0	1	0	0	T	6729583	C	T	6729583	3	4	22	1	0	0	0	0	1	0	0	0	8953	507	18	2	290	2	LPAR5	12	6729583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22362	6729583	127122312	12589	14735											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	83					0	0	1	0	0	A	6730346	G	A	6730346	2	1	22	1	0	0	0	0	0	0	0	1	8953	1190	42	2		2	LPAR5	12	6730346	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	763	6730346	127121549	12590	14736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	250					0.000978159	0.000988919	1	1	0	T	6753468	G	T	6753468	3	4	22	1	0	0	0	0	1	0	0	0	170	942	33	2	876	2	ACRBP	12	6753468	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23122	6753468	127098427	12591	14737											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539187.1_Missense_Mutation_p.A231T|MLF2_ENST00000542154.1_Missense_Mutation_p.A231T|MLF2_ENST00000435120.1_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													79	397					0	0	1	0	0	T	6858017	C	T	6858017	3	4	22	1	0	0	0	0	1	0	0	0	9664	739	26	2	59	2	MLF2	12	6858017	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104549	6858017	126993878	12592	14738											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													139	681					3.42316e-88	4.39067e-88	1	1	0	A	6925373	C	A	6925373	2	1	22	1	0	0	0	0	0	0	0	1	3036	668	24	2		2	CD4	12	6925373	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67356	6925373	126926522	12593	14739											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6927707G>T	ENST00000011653.4	+	8	1535	c.1278_splice	c.e8+1	p.R426_splice		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													45	233					3.86236e-30	4.52529e-30	1	1	0	T	6927707	G	T	6927707	5	4	22	1	0	0	0	0	0	0	1	0	3036	1014	35	2	1303	2	CD4	12	6927707	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2334	6927707	126924188	12594	14740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	632					0	0	1	0	0	G	6928490	A	G	6928490	3	3	22	1	0	0	0	0	1	0	0	0	3036	217	8	3	1406	3	CD4	12	6928490	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	783	6928490	126923405	12595	14741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6946916G>A	ENST00000251761.8	+	0	1765				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						GCAGCGCATGGACCTGAGTCA	0.647													16	75					0	0	1	0	0	A	6946916	G	A	6946916	1	1	22	0	1	0	0	0	0	0	0	0	8770	1174	41	2		2	LEPREL2	12	6946916	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18426	6946916	126904979	12596	14742											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	269					9.52127e-25	1.09014e-24	1	1	0	A	6952223	C	A	6952223	3	1	22	1	0	0	0	0	1	0	0	0	6561	564	20	2	196	2	GNB3	12	6952223	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5307	6952223	126899672	12597	14743											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	192					0	0	1	0	0	A	6958344	G	A	6958344	2	1	22	1	0	0	0	0	0	0	0	1	3109	991	35	2		2	CDCA3	12	6958344	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6121	6958344	126893551	12598	14744											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	348					0	0	1	0	0	T	6970734	C	T	6970734	2	4	22	1	0	0	0	0	0	0	0	1	17141	871	31	1		1	USP5	12	6970734	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12390	6970734	126881161	12599	14745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	117					0	0	1	0	0	A	6976836	G	A	6976836	3	1	22	1	0	0	0	0	1	0	0	0	16464	1203	42	2	219	2	TPI1	12	6976836	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6102	6976836	126875059	12600	14746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000488464.2_Missense_Mutation_p.I162S|TPI1_ENST00000535434.1_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)	34	213					0	0	1	0	0	G	6979528	T	G	6979528	3	3	22	1	0	0	0	0	1	0	0	0	16464	1435	50	3	868	3	TPI1	12	6979528	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2692	6979528	126872367	12601	14747											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													264	1303					5.60598e-63	7.07121e-63	1	1	0	A	7045789	C	A	7045789	2	1	22	1	0	0	0	0	0	0	0	1	1110	581	21	2		2	ATN1	12	7045789	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66261	7045789	126806106	12602	14748											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	631					0	0	1	0	0	T	7045981	C	T	7045981	2	4	22	1	0	0	0	0	0	0	0	1	1110	506	18	2		2	ATN1	12	7045981	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192	7045981	126805914	12603	14749											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	448					6.46527e-39	7.80444e-39	1	1	0	T	7046106	G	T	7046106	3	4	22	1	0	0	0	0	1	0	0	0	1110	971	34	2	1690	2	ATN1	12	7046106	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125	7046106	126805789	12604	14750											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	436					0	0	1	0	0	A	7047972	G	A	7047972	3	1	22	1	0	0	0	0	1	0	0	0	1110	1203	42	2	2868	2	ATN1	12	7047972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1866	7047972	126803923	12605	14751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447931.2_Missense_Mutation_p.Y59C|PTPN6_ENST00000318974.9_Missense_Mutation_p.Y98C|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													62	443					0	0	1	0	0	G	7061307	A	G	7061307	3	3	22	1	0	0	0	0	1	0	0	0	12844	391	14	3	321	3	PTPN6	12	7061307	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13335	7061307	126790588	12606	14752											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447931.2_Missense_Mutation_p.R187Q|PTPN6_ENST00000318974.9_Missense_Mutation_p.R226Q|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													138	728					0	0	1	0	0	A	7064578	G	A	7064578	3	1	22	1	0	0	0	0	1	0	0	0	12844	1058	37	1	717	1	PTPN6	12	7064578	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3271	7064578	126787317	12607	14753											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447931.2_Missense_Mutation_p.Q357H|PTPN6_ENST00000318974.9_Missense_Mutation_p.Q396H|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													58	169					4.33383e-22	4.89722e-22	1	1	0	T	7066930	G	T	7066930	3	4	22	1	0	0	0	0	1	0	0	0	12844	991	35	2	1244	2	PTPN6	12	7066930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2352	7066930	126784965	12608	14754											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	U47924.19_ENST00000564245.1_RNA	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													24	163					3.28513e-13	3.54196e-13	1	1	0	T	7091893	G	T	7091893	3	4	22	1	0	0	0	0	1	0	0	0	8957	1000	35	2	1193	2	LPCAT3	12	7091893	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24963	7091893	126760002	12609	14755											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000328916.3_Nonsense_Mutation_p.E43*|C1S_ENST00000402681.3_Intron			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													63	361					5.10652e-33	6.04401e-33	1	1	0	T	7169900	G	T	7169900	4	4	22	1	0	0	0	0	0	1	0	0	1987	943	33	2	133	2	C1S	12	7169900	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78007	7169900	126681995	12610	14756											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000328916.3_Missense_Mutation_p.W283R|C1S_ENST00000402681.3_Missense_Mutation_p.W116R			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													51	330					0	0	1	0	0	C	7173250	T	C	7173250	3	2	22	1	0	0	0	0	1	0	0	0	1987	1580	55	3	869	3	C1S	12	7173250	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3350	7173250	126678645	12611	14757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000328916.3_Silent_p.S489S|C1S_ENST00000402681.3_Silent_p.S322S			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													26	142					0	0	1	0	0	T	7177355	C	T	7177355	2	4	22	1	0	0	0	0	0	0	0	1	1987	581	21	2		2	C1S	12	7177355	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4105	7177355	126674540	12612	14758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000328916.3_Missense_Mutation_p.L564M|C1S_ENST00000402681.3_Missense_Mutation_p.L397M			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													47	144					1.23103e-26	1.41986e-26	1	1	0	A	7177578	C	A	7177578	3	1	22	1	0	0	0	0	1	0	0	0	1987	680	24	2	1732	2	C1S	12	7177578	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	223	7177578	126674317	12613	14759											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504702.2_Intron|C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000545280.1_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													60	429					0	0	1	0	0	A	7249062	G	A	7249062	2	1	22	1	0	0	0	0	0	0	0	1	1986	1074	38	1		1	C1RL	12	7249062	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71484	7249062	126602833	12614	14760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	330					0	0	1	0	0	T	7288002	A	T	7288002	3	4	22	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	12615	14761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000331148.5_3'UTR|CLSTN3_ENST00000266546.6_Missense_Mutation_p.R869H			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													22	126					0	0	1	0	0	A	7310163	G	A	7310163	3	1	22	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	12616	14762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7361053G>T	ENST00000266563.5	+	12	1254	c.1070_splice	c.e12-1	p.R357_splice	PEX5_ENST00000412720.2_Splice_Site_p.R415_splice|PEX5_ENST00000434354.2_Splice_Site_p.R409_splice|PEX5_ENST00000455147.2_Splice_Site_p.R394_splice|PEX5_ENST00000420616.2_Splice_Site_p.R394_splice|PEX5_ENST00000266564.3_Splice_Site_p.R386_splice	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													28	130					1.77063e-15	1.9355e-15	1	1	0	T	7361053	G	T	7361053	5	4	22	1	0	0	0	0	0	0	1	0	11796	1275	44	2	1273	2	PEX5	12	7361053	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50890	7361053	126490842	12617	14763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	76					3.62473e-10	3.83521e-10	1	1	0	T	7459295	G	T	7459295	3	4	22	1	0	0	0	0	1	0	0	0	186	942	33	2	374	2	ACSM4	12	7459295	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98242	7459295	126392600	12618	14764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396630.1_Nonsense_Mutation_p.R771*|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.R781*|CD163L1_ENST00000544331.1_5'UTR			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													88	366					0	0	1	0	0	A	7531634	G	A	7531634	4	1	22	1	0	0	0	0	0	1	0	0	2990	1153	40	1	2094	1	CD163L1	12	7531634	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72339	7531634	126320261	12619	14765											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396630.1_Missense_Mutation_p.P743L|CD163L1_ENST00000416109.2_Missense_Mutation_p.P753L|CD163L1_ENST00000544331.1_Intron			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													100	394					0	0	1	0	0	A	7531717	G	A	7531717	3	1	22	1	0	0	0	0	1	0	0	0	2990	1000	35	2	2177	2	CD163L1	12	7531717	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83	7531717	126320178	12620	14766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396630.1_Missense_Mutation_p.V359M|CD163L1_ENST00000416109.2_Missense_Mutation_p.V369M			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													47	230					0	0	1	0	0	T	7559140	C	T	7559140	3	4	22	1	0	0	0	0	1	0	0	0	2990	478	17	2	3346	2	CD163L1	12	7559140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27423	7559140	126292755	12621	14767											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396630.1_Missense_Mutation_p.V299I|CD163L1_ENST00000416109.2_Missense_Mutation_p.V309I			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													70	403					0	0	1	0	0	T	7559320	C	T	7559320	3	4	22	1	0	0	0	0	1	0	0	0	2990	536	19	1	3526	1	CD163L1	12	7559320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180	7559320	126292575	12622	14768											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396620.3_Silent_p.G796G|CD163_ENST00000432237.2_Silent_p.G763G|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													130	836					0	0	1	0	0	A	7639264	T	A	7639264	2	1	22	1	0	0	0	0	0	0	0	1	2989	1538	54	5		5	CD163	12	7639264	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	79944	7639264	126212631	12623	14769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396620.3_Silent_p.R617R|CD163_ENST00000432237.2_Silent_p.R584R|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													13	459					0	0	1	0	0	A	7640253	G	A	7640253	2	1	22	1	0	0	0	0	0	0	0	1	2989	958	34	2		2	CD163	12	7640253	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	989	7640253	126211642	12624	14770											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539924.1_Missense_Mutation_p.Y180H|SLC2A14_ENST00000340749.5_Missense_Mutation_p.Y142H|SLC2A14_ENST00000542546.1_Missense_Mutation_p.Y56H|SLC2A14_ENST00000431042.2_Missense_Mutation_p.Y142H|SLC2A14_ENST00000535295.1_Missense_Mutation_p.Y56H|SLC2A14_ENST00000396589.2_Missense_Mutation_p.Y165H|SLC2A14_ENST00000542505.1_Intron			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													51	231					0	0	1	0	0	G	7982451	A	G	7982451	3	3	22	1	0	0	0	0	1	0	0	0	14598	391	14	3	1097	3	SLC2A14	12	7982451	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	342198	7982451	125869444	12625	14771											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539924.1_Missense_Mutation_p.T54A|SLC2A14_ENST00000340749.5_Missense_Mutation_p.T16A|SLC2A14_ENST00000542546.1_5'UTR|SLC2A14_ENST00000431042.2_Missense_Mutation_p.T16A|SLC2A14_ENST00000535295.1_5'UTR|SLC2A14_ENST00000396589.2_Missense_Mutation_p.T39A|SLC2A14_ENST00000542505.1_Intron			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)	12	274					0	0	1	0	0	C	7985383	T	C	7985383	3	2	22	1	0	0	0	0	1	0	0	0	14598	1696	59	3	1483	3	SLC2A14	12	7985383	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2932	7985383	125866512	12626	14772											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	240					2.82306e-37	3.38865e-37	1	1	0	T	8083844	G	T	8083844	2	4	22	1	0	0	0	0	0	0	0	1	14600	1219	43	2		2	SLC2A3	12	8083844	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98461	8083844	125768051	12627	14773											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	304					0	0	1	0	0	T	8083913	C	T	8083913	2	4	22	1	0	0	0	0	0	0	0	1	14600	755	27	1		1	SLC2A3	12	8083913	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69	8083913	125767982	12628	14774											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	279					0	0	1	0	0	A	8203160	G	A	8203160	3	1	22	1	0	0	0	0	1	0	0	0	6046	1203	42	2	1614	2	FOXJ2	12	8203160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119247	8203160	125648735	12629	14775											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	375					3.21867e-24	3.67736e-24	1	1	0	A	8211461	C	A	8211461	3	1	22	1	0	0	0	0	1	0	0	0	2219	913	32	2	131	2	C3AR1	12	8211461	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8301	8211461	125640434	12630	14776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	309					0	0	1	0	0	G	8212009	A	G	8212009	3	3	22	1	0	0	0	0	1	0	0	0	2219	391	14	3	679	3	C3AR1	12	8212009	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	548	8212009	125639886	12631	14777											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360500.3_Missense_Mutation_p.R163C|CLEC4A_ENST00000345999.3_Missense_Mutation_p.R130C|CLEC4A_ENST00000352620.3_Missense_Mutation_p.R169C	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													48	244					0	0	1	0	0	T	8290773	C	T	8290773	3	4	22	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	12632	14778											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	435					0	0	1	0	0	G	8691851	T	G	8691851	3	3	22	1	0	0	0	0	1	0	0	0	3538	1551	54	3	493	3	CLEC4E	12	8691851	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	401078	8691851	125160044	12633	14779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000299673.5_Intron|RIMKLB_ENST00000535829.1_Missense_Mutation_p.S347R|RIMKLB_ENST00000538135.1_Missense_Mutation_p.S347R	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													125	548					0	0	1	0	0	G	8926260	T	G	8926260	3	3	22	1	0	0	0	0	1	0	0	0	13418	1722	60	3	1059	3	RIMKLB	12	8926260	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	234409	8926260	124925635	12634	14780											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000299673.5_Intron|RIMKLB_ENST00000535829.1_Silent_p.L370L|RIMKLB_ENST00000538135.1_Silent_p.L370L	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													124	529					0	0	1	0	0	A	8926329	G	A	8926329	2	1	22	1	0	0	0	0	0	0	0	1	13418	1364	48	2		2	RIMKLB	12	8926329	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69	8926329	124925566	12635	14781											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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						CATTGCAGAAGAACTTCCGTG	0.483													80	320					3.89792e-41	4.73322e-41	1	1	0	T	8975302	G	T	8975302	4	4	22	1	0	0	0	0	0	1	0	0	5	943	33	2	57	2	A2ML1	12	8975302	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48973	8975302	124876593	12636	14782											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_144670.4	NP_653271.2	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													60	297					0	0	1	0	0	C	9002321	T	C	9002321	2	2	22	1	0	0	0	0	0	0	0	1	5	1664	58	3		3	A2ML1	12	9002321	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27019	9002321	124849574	12637	14783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_144670.4	NP_653271.2	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													12	495					0	0	1	0	0	T	9009783	C	T	9009783	4	4	22	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	12638	14784											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_144670.4	NP_653271.2	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													98	364					0	0	1	0	0	C	9010616	A	C	9010616	3	2	22	1	0	0	0	0	1	0	0	0	5	333	12	3	3284	3	A2ML1	12	9010616	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	833	9010616	124841279	12639	14785											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_144670.4	NP_653271.2	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													71	264					0	0	1	0	0	A	9016434	G	A	9016434	3	1	22	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	12640	14786											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_144670.4	NP_653271.2	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													69	327					1.08321e-29	1.26665e-29	1	1	0	T	9020513	G	T	9020513	3	4	22	1	0	0	0	0	1	0	0	0	5	1261	44	2	3911	2	A2ML1	12	9020513	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4079	9020513	124831382	12641	14787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544916.1_Silent_p.R852R|PHC1_ENST00000536844.1_Silent_p.R458R|PHC1_ENST00000543824.1_Silent_p.R852R			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													33	144					0	0	1	0	0	T	9089850	C	T	9089850	2	4	22	1	0	0	0	0	0	0	0	1	11864	755	27	1		1	PHC1	12	9089850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69337	9089850	124762045	12642	14788	96	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544916.1_Missense_Mutation_p.R854H|PHC1_ENST00000536844.1_Missense_Mutation_p.R460H|PHC1_ENST00000543824.1_Missense_Mutation_p.R854H			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													31	148					0	0	1	0	0	A	9089855	G	A	9089855	3	1	22	1	0	0	0	0	1	0	0	0	11864	1087	38	1	2607	1	PHC1	12	9089855	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	9089855	124762040	12643	14789	96	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000005.2	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													14	146					9.31168e-06	9.55451e-06	1	1	0	A	9225459	C	A	9225459	2	1	22	1	0	0	0	0	0	0	0	1	4	581	21	2		2	A2M	12	9225459	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135604	9225459	124626436	12644	14790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000005.2	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													13	389					0.000219431	0.000222766	1	1	0	T	9243824	G	T	9243824	2	4	22	1	0	0	0	0	0	0	0	1	4	1161	41	2		2	A2M	12	9243824	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18365	9243824	124608071	12645	14791											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000005.2	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													6	27					0	0	1	0	0	T	9252027	C	T	9252027	3	4	22	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	12646	14792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	328					1.41401e-22	1.60156e-22	1	1	0	T	9317762	G	T	9317762	2	4	22	1	0	0	0	0	0	0	0	1	12921	1161	41	2		2	PZP	12	9317762	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65735	9317762	124534133	12647	14793											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	127					0	0	1	0	0	T	9354925	C	T	9354925	3	4	22	1	0	0	0	0	1	0	0	0	12921	884	31	1	4110	1	PZP	12	9354925	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37163	9354925	124496970	12648	14794											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	305					0.00307968	0.00310409	1	1	0	T	9875328	G	T	9875328	3	4	22	1	0	0	0	0	1	0	0	0	3546	971	34	2	109	2	CLECL1	12	9875328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	520403	9875328	123976567	12649	14795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	161					0	0	1	0	0	G	10005919	A	G	10005919	3	3	22	1	0	0	0	0	1	0	0	0	3530	130	5	3	23	3	CLEC2B	12	10005919	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	130591	10005919	123845976	12650	14796											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434319.2_Nonsense_Mutation_p.W190*|CLEC12A_ENST00000355690.4_Nonsense_Mutation_p.W200*|CLEC12A_ENST00000350667.4_Nonsense_Mutation_p.W157*	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													24	126					0	0	1	0	0	A	10134657	G	A	10134657	4	1	22	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	12651	14797											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	231					2.23044e-30	2.6157e-30	1	1	0	T	10167267	G	T	10167267	3	4	22	1	0	0	0	0	1	0	0	0	3521	933	33	2	346	2	CLEC12B	12	10167267	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32610	10167267	123684628	12652	14798											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	423					3.0332e-58	3.802e-58	1	1	0	A	10168306	C	A	10168306	2	1	22	1	0	0	0	0	0	0	0	1	3521	784	28	2		2	CLEC12B	12	10168306	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1039	10168306	123683589	12653	14799											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	179					0	0	1	0	0	A	10206926	G	A	10206926	3	1	22	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	12654	14800											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266458.5_Missense_Mutation_p.Y115H|GABARAPL1_ENST00000544284.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000545887.1_Missense_Mutation_p.Y115H|GABARAPL1_ENST00000535576.1_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													45	174					0	0	1	0	0	C	10374440	T	C	10374440	3	2	22	1	0	0	0	0	1	0	0	0	6188	1522	53	3	357	3	GABARAPL1	12	10374440	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	167514	10374440	123477455	12655	14801											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	KLRC3_ENST00000396439.2_Intron|KLRC3_ENST00000381904.2_Intron|NKG2-E_ENST00000539033.1_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													39	182					0	0	1	0	0	G	10568293	T	G	10568293	3	3	22	1	0	0	0	0	1	0	0	0	8460	1609	56	3	138	3	KLRC3	12	10568293	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	193853	10568293	123283602	12656	14802											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539554.1_Missense_Mutation_p.K17N|MAGOHB_ENST00000381881.2_Intron	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													21	131					9.57634e-11	1.01752e-10	1	1	0	A	10762505	C	A	10762505	3	1	22	1	0	0	0	0	1	0	0	0	9245	912	32	2	269	2	MAGOHB	12	10762505	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	194212	10762505	123089390	12657	14803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			81	323					0	0	1	0	0	A	10774566	G	A	10774566	3	1	22	1	0	0	0	0	1	0	0	0	15415	1261	44	2	303	2	STYK1	12	10774566	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12061	10774566	123077329	12658	14804											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	249					0	0	1	0	0	C	10962247	A	C	10962247	3	2	22	1	0	0	0	0	1	0	0	0	15645	101	4	3	514	3	TAS2R9	12	10962247	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	187681	10962247	122889648	12659	14805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	393					0	0	1	0	0	C	10962425	T	C	10962425	3	2	22	1	0	0	0	0	1	0	0	0	15645	1464	51	3	692	3	TAS2R9	12	10962425	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	178	10962425	122889470	12660	14806											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	245					0	0	1	0	0	C	10978550	A	C	10978550	3	2	22	1	0	0	0	0	1	0	0	0	15623	14	1	3	608	3	TAS2R10	12	10978550	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16125	10978550	122873345	12661	14807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_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													66	296					0	0	1	0	0	A	11091357	G	A	11091357	2	1	22	1	0	0	0	0	0	0	0	1	15625	1164	41	2		2	TAS2R14	12	11091357	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112807	11091357	122760538	12662	14808											
PRB3	5544	broad.mit.edu	37	chr12	11420871	11420871	+	RNA	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:11420871T>C	ENST00000381842.3	-	0	349				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)			TTCCTCCTTGTGGGGGTTGTC	0.637													378	1640					0	0	1	0	0	C	11420871	T	C	11420871	1	2	22	0	1	0	0	0	0	0	0	0	12496	1683	59	3		3	PRB3	12	11420871	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	329514	11420871	122431024	12663	14809											
PRB2	653247	broad.mit.edu	37	chr12	11546844	11546844	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggggtggtccttgtggCtttcctggaggagatggggg	21	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:11546844C>A	ENST00000389362.4	-	3	203	c.168G>T	c.(166-168)aaG>aaT	p.K56N	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2									p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTCCTTGTGGCTTTCCTGGAG	0.567													63	1368					1.30897e-18	1.45408e-18	1	1	0	A	11546844	C	A	11546844	3	1	22	1	0	0	0	0	1	0	0	0	12495	796	28	2	1086	2	PRB2	12	11546844	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125973	11546844	122305051	12664	14810											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								80	522					0	0	1	0	0	T	12022779	C	T	12022779	2	4	22	1	0	0	0	0	0	0	0	1	5311	535	19	1		1	ETV6	12	12022779	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	475935	12022779	121829116	12665	14811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.H1479Y	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													85	538					0	0	1	0	0	A	12274332	G	A	12274332	3	1	22	1	0	0	0	0	1	0	0	0	9007	1319	46	2	275	2	LRP6	12	12274332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	251553	12274332	121577563	12666	14812											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	455					1.17954e-47	1.45276e-47	1	1	0	T	12312866	G	T	12312866	3	4	22	1	0	0	0	0	1	0	0	0	9007	1000	35	2	2581	2	LRP6	12	12312866	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38534	12312866	121539029	12667	14813											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	464					0	0	1	0	0	T	12334299	C	T	12334299	3	4	22	1	0	0	0	0	1	0	0	0	9007	913	32	2	3862	2	LRP6	12	12334299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21433	12334299	121517596	12668	14814											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396349.3_Silent_p.T130T|MANSC1_ENST00000545735.1_Silent_p.T83T			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													9	453					0	0	1	0	0	A	12483765	G	A	12483765	2	1	22	1	0	0	0	0	0	0	0	1	9274	1103	39	1		1	MANSC1	12	12483765	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149466	12483765	121368130	12669	14815											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	330					3.57465e-26	4.11543e-26	1	1	0	T	12496182	G	T	12496182	3	4	22	1	0	0	0	0	1	0	0	0	9274	962	34	2	1240	2	MANSC1	12	12496182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12417	12496182	121355713	12670	14816											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	383					0	0	1	0	0	T	12630240	C	T	12630240	3	4	22	1	0	0	0	0	1	0	0	0	4842	536	19	1	476	1	DUSP16	12	12630240	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134058	12630240	121221655	12671	14817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	461					8.34767e-46	1.02437e-45	1	1	0	A	12815366	C	A	12815366	3	1	22	1	0	0	0	0	1	0	0	0	6719	913	32	2	1234	2	GPR19	12	12815366	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	185126	12815366	121036529	12672	14818											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352940.4_Missense_Mutation_p.R62C|RP11-59H1.3_ENST00000534843.1_3'UTR|DDX47_ENST00000392155.2_3'UTR	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													78	401					0	0	1	0	0	T	12974144	C	T	12974144	3	4	22	1	0	0	0	0	1	0	0	0	4388	884	31	1	194	1	DDX47	12	12974144	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158778	12974144	120877751	12673	14819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP11-59H1.3_ENST00000534843.1_3'UTR	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													53	275					0	0	1	0	0	C	12974954	A	C	12974954	3	2	22	1	0	0	0	0	1	0	0	0	4388	301	11	3	516	3	DDX47	12	12974954	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	810	12974954	120876941	12674	14820											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP11-59H1.3_ENST00000534843.1_3'UTR	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													15	713					0.000422831	0.000428653	1	1	0	A	12976838	C	A	12976838	3	1	22	1	0	0	0	0	1	0	0	0	4388	797	28	2	815	2	DDX47	12	12976838	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1884	12976838	120875057	12675	14821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|GPRC5D_ENST00000396333.3_Silent_p.I134I	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													61	266					0	0	1	0	0	G	13102917	A	G	13102917	2	3	22	1	0	0	0	0	0	0	0	1	6768	126	5	3		3	GPRC5D	12	13102917	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	126079	13102917	120748978	12676	14822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	271					0	0	1	0	0	G	13208820	A	G	13208820	3	3	22	1	0	0	0	0	1	0	0	0	8277	333	12	3	379	3	KIAA1467	12	13208820	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	105903	13208820	120643075	12677	14823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	111					0	0	1	0	0	T	13232935	C	T	13232935	3	4	22	1	0	0	0	0	1	0	0	0	8277	855	30	2	1901	2	KIAA1467	12	13232935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24115	13232935	120618960	12678	14824											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13716563G>A	ENST00000279593.3	-	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	1203					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													144	465					0	0	1	0	0	A	13716563	G	A	13716563	2	1	22	1	0	0	0	0	0	0	0	1	6821	1136	40	1		1	GRIN2B	12	13716563	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	483628	13716563	120135332	12679	14825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13717545G>A	ENST00000279593.3	-	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	876					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													17	615					0	0	1	0	0	A	13717545	G	A	13717545	3	1	22	1	0	0	0	0	1	0	0	0	6821	1087	38	1	1831	1	GRIN2B	12	13717545	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	982	13717545	120134350	12680	14826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13720117C>T	ENST00000279593.3	-	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	814					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													61	353					0	0	1	0	0	T	13720117	C	T	13720117	3	4	22	1	0	0	0	0	1	0	0	0	6821	855	30	2	2022	2	GRIN2B	12	13720117	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2572	13720117	120131778	12681	14827											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13828724C>T	ENST00000279593.3	-	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	360					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													66	343					0	0	1	0	0	T	13828724	C	T	13828724	2	4	22	1	0	0	0	0	0	0	0	1	6821	871	31	1		1	GRIN2B	12	13828724	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108607	13828724	120023171	12682	14828											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13906396G>A	ENST00000279593.3	-	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	289					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													37	222					0	0	1	0	0	A	13906396	G	A	13906396	3	1	22	1	0	0	0	0	1	0	0	0	6821	1000	35	2	3633	2	GRIN2B	12	13906396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77672	13906396	119945499	12683	14829											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	364					0	0	1	0	0	T	14634068	C	T	14634068	4	4	22	1	0	0	0	0	0	1	0	0	1086	760	27	1	3275	1	ATF7IP	12	14634068	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	727672	14634068	119217827	12684	14830											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													192	653					1.74343e-85	2.23448e-85	1	1	0	A	14805932	C	A	14805932	3	1	22	1	0	0	0	0	1	0	0	0	6937	913	32	2	1794	2	GUCY2C	12	14805932	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171864	14805932	119045963	12685	14831											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	WBP11_ENST00000537574.1_Missense_Mutation_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													63	1510					1.60099e-16	1.75945e-16	1	1	0	T	14947480	G	T	14947480	3	4	22	1	0	0	0	0	1	0	0	0	17318	1174	41	2	1237	2	WBP11	12	14947480	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141548	14947480	118904415	12686	14832											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	154					0	0	1	0	0	A	14995976	G	A	14995976	2	1	22	1	0	0	0	0	0	0	0	1	998	932	33	2		2	ART4	12	14995976	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48496	14995976	118855919	12687	14833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536465.1_Missense_Mutation_p.V116I|RERG_ENST00000538313.1_Missense_Mutation_p.V116I|RERG_ENST00000546331.1_Missense_Mutation_p.V97I	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													216	858					0	0	1	0	0	T	15262298	C	T	15262298	3	4	22	1	0	0	0	0	1	0	0	0	13284	507	18	2	257	2	RERG	12	15262298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	266322	15262298	118589597	12688	14834											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536465.1_Silent_p.G13G|RERG_ENST00000537647.1_Silent_p.G13G|RERG_ENST00000538313.1_Silent_p.G13G|RERG_ENST00000546331.1_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													141	544					1.9732e-51	2.44871e-51	1	1	0	A	15370385	C	A	15370385	2	1	22	1	0	0	0	0	0	0	0	1	13284	842	30	2		2	RERG	12	15370385	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108087	15370385	118481510	12689	14835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	223					0	0	1	0	0	T	15654735	C	T	15654735	2	4	22	1	0	0	0	0	0	0	0	1	12861	639	23	1		1	PTPRO	12	15654735	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	284350	15654735	118197160	12690	14836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	291					0	0	1	0	0	T	15654981	C	T	15654981	2	4	22	1	0	0	0	0	0	0	0	1	12861	845	30	2		2	PTPRO	12	15654981	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	246	15654981	118196914	12691	14837											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544244.1_Missense_Mutation_p.E249K|PTPRO_ENST00000542557.1_Missense_Mutation_p.E249K|PTPRO_ENST00000445537.2_Missense_Mutation_p.E277K|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													73	387					0	0	1	0	0	A	15739837	G	A	15739837	3	1	22	1	0	0	0	0	1	0	0	0	12861	1059	37	1	3356	1	PTPRO	12	15739837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84856	15739837	118112058	12692	14838											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544244.1_Missense_Mutation_p.D319E|PTPRO_ENST00000542557.1_Missense_Mutation_p.D319E|PTPRO_ENST00000445537.2_Missense_Mutation_p.D347E|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													132	467					0	0	1	0	0	G	15742452	T	G	15742452	3	3	22	1	0	0	0	0	1	0	0	0	12861	1432	50	3	3572	3	PTPRO	12	15742452	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2615	15742452	118109443	12693	14839											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540613.1_Missense_Mutation_p.R208H|EPS8_ENST00000542903.1_Missense_Mutation_p.R208H|EPS8_ENST00000543523.1_Missense_Mutation_p.R468H	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													82	486					0	0	1	0	0	T	15803788	C	T	15803788	3	4	22	1	0	0	0	0	1	0	0	0	5222	768	27	1	1097	1	EPS8	12	15803788	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61336	15803788	118048107	12694	14840											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540613.1_Silent_p.N139N|EPS8_ENST00000542903.1_Silent_p.N139N|EPS8_ENST00000543523.1_Silent_p.N399N	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													80	314					0	0	1	0	0	G	15807132	A	G	15807132	2	3	22	1	0	0	0	0	0	0	0	1	5222	214	8	3		3	EPS8	12	15807132	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3344	15807132	118044763	12695	14841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538352.1_Nonsense_Mutation_p.Q63*|STRAP_ENST00000025399.6_Nonsense_Mutation_p.Q170*	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													17	469					0	0	1	0	0	T	16047046	C	T	16047046	4	4	22	1	0	0	0	0	0	1	0	0	15382	479	17	2	487	2	STRAP	12	16047046	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239914	16047046	117804849	12696	14842											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540848.1_Intron|LMO3_ENST00000541846.1_Intron|LMO3_ENST00000354662.1_Intron|LMO3_ENST00000320122.6_5'UTR|LMO3_ENST00000441439.2_Intron|LMO3_ENST00000540445.1_Intron|LMO3_ENST00000534946.1_Intron|LMO3_ENST00000537568.1_Intron|LMO3_ENST00000537304.1_Intron|LMO3_ENST00000447609.1_Intron|LMO3_ENST00000541295.1_Intron|LMO3_ENST00000535535.1_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													11	465					0	0	1	0	0	G	16757805	T	G	16757805	3	3	22	1	0	0	0	0	1	0	0	0	8894	1624	56	3		3	LMO3	12	16757805	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	710759	16757805	117094090	12697	14843											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538724.1_Missense_Mutation_p.E136A|RERGL_ENST00000541632.1_5'UTR|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													72	417					0	0	1	0	0	G	18234333	T	G	18234333	3	3	22	1	0	0	0	0	1	0	0	0	13285	1783	62	3	211	3	RERGL	12	18234333	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1476528	18234333	115617562	12698	14844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266497.5_Silent_p.R643R|PIK3C2G_ENST00000538779.1_Silent_p.R684R	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													21	143					0	0	1	0	0	G	18544112	A	G	18544112	2	3	22	1	0	0	0	0	0	0	0	1	11959	243	9	3		3	PIK3C2G	12	18544112	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	309779	18544112	115307783	12699	14845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266497.5_Silent_p.F682F|PIK3C2G_ENST00000538779.1_Silent_p.F723F	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													69	298					0	0	1	0	0	T	18552635	C	T	18552635	2	4	22	1	0	0	0	0	0	0	0	1	11959	912	32	2		2	PIK3C2G	12	18552635	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8523	18552635	115299260	12700	14846											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	379					1.56452e-12	1.68123e-12	1	1	0	T	18891240	G	T	18891240	3	4	22	1	0	0	0	0	1	0	0	0	2660	942	33	2	40	2	CAPZA3	12	18891240	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	338605	18891240	114960655	12701	14847											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	182					0	0	1	0	0	A	18891833	G	A	18891833	3	1	22	1	0	0	0	0	1	0	0	0	2660	943	33	2	633	2	CAPZA3	12	18891833	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	593	18891833	114960062	12702	14848											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	300					0	0	1	0	0	A	18891950	G	A	18891950	3	1	22	1	0	0	0	0	1	0	0	0	2660	1291	45	2	750	2	CAPZA3	12	18891950	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117	18891950	114959945	12703	14849											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541908.1_5'UTR|AEBP2_ENST00000398864.3_Missense_Mutation_p.S227N	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													13	61					0	0	1	0	0	A	19615452	G	A	19615452	3	1	22	1	0	0	0	0	1	0	0	0	349	1029	36	2	686	2	AEBP2	12	19615452	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	723502	19615452	114236443	12704	14850											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541908.1_Silent_p.K273K|AEBP2_ENST00000398864.3_Silent_p.K502K	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													7	50					0	0	1	0	0	A	19671045	G	A	19671045	2	1	22	1	0	0	0	0	0	0	0	1	349	933	33	2		2	AEBP2	12	19671045	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55593	19671045	114180850	12705	14851											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	154					0	0	1	0	0	T	20522684	C	T	20522684	3	4	22	1	0	0	0	0	1	0	0	0	11684	768	27	1	468	1	PDE3A	12	20522684	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	851639	20522684	113329211	12706	14852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	157					0	0	1	0	0	T	20523167	C	T	20523167	3	4	22	1	0	0	0	0	1	0	0	0	11684	507	18	2	951	2	PDE3A	12	20523167	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	483	20523167	113328728	12707	14853											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	334					0	0	1	0	0	T	20769306	C	T	20769306	3	4	22	1	0	0	0	0	1	0	0	0	11684	710	25	2	1426	2	PDE3A	12	20769306	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	246139	20769306	113082589	12708	14854											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	199					0	0	1	0	0	A	20790055	G	A	20790055	3	1	22	1	0	0	0	0	1	0	0	0	11684	1059	37	1	2057	1	PDE3A	12	20790055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20749	20790055	113061840	12709	14855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	242					0	0	1	0	0	T	20832995	C	T	20832995	2	4	22	1	0	0	0	0	0	0	0	1	11684	576	20	2		2	PDE3A	12	20832995	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42940	20832995	113018900	12710	14856											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545604.1_Silent_p.C502C|SLCO1C1_ENST00000545102.1_Silent_p.C384C|SLCO1C1_ENST00000266509.2_Silent_p.C502C|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													74	316					0	0	1	0	0	C	20890164	T	C	20890164	2	2	22	1	0	0	0	0	0	0	0	1	14780	1673	58	3		3	SLCO1C1	12	20890164	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	57169	20890164	112961731	12711	14857											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21014072G>A	ENST00000381545.3	+	6	700	c.481_splice	c.e6+1	p.D161_splice	SLCO1B3_ENST00000261196.2_Splice_Site_p.D161_splice|SLCO1B3_ENST00000553473.1_Splice_Site_p.D161_splice|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Splice_Site_p.D161_splice	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													30	117					0	0	1	0	0	A	21014072	G	A	21014072	5	1	22	1	0	0	0	0	0	0	1	0	14779	1014	35	2	495	2	SLCO1B3	12	21014072	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123908	21014072	112837823	12712	14858											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21294592G>T	ENST00000256958.2	+	2	180	c.84_splice	c.e2+1	p.K28_splice		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													16	173					3.45872e-05	3.53336e-05	1	1	0	T	21294592	G	T	21294592	5	4	22	1	0	0	0	0	0	0	1	0	14778	1014	35	2	86	2	SLCO1B1	12	21294592	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	280520	21294592	112557303	12713	14859											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	181					0	0	1	0	0	C	21355541	T	C	21355541	3	2	22	1	0	0	0	0	1	0	0	0	14778	1667	58	3	1286	3	SLCO1B1	12	21355541	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	60949	21355541	112496354	12714	14860											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000458504.1_5'UTR|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.V121I|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.V119I	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													40	237					0	0	1	0	0	T	21459897	C	T	21459897	3	4	22	1	0	0	0	0	1	0	0	0	14777	565	20	2	1695	2	SLCO1A2	12	21459897	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104356	21459897	112391998	12715	14861											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21487720A>C	ENST00000452078.1	-	0	112				SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000537524.1_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													14	54					0	0	1	0	0	C	21487720	A	C	21487720	1	2	22	1	0	0	0	0	0	0	0	0	14777	29	1	3		3	SLCO1A2	12	21487720	Translation_Start_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27823	21487720	112364175	12716	14862											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	IAPP_ENST00000240652.3_Missense_Mutation_p.L10I|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000537524.1_Intron|IAPP_ENST00000539393.1_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													67	285					3.20846e-33	3.7991e-33	1	1	0	A	21526313	C	A	21526313	3	1	22	1	0	0	0	0	1	0	0	0	7516	913	32	2	30	2	IAPP	12	21526313	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38593	21526313	112325582	12717	14863											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	143					9.57634e-11	1.01752e-10	1	1	0	T	21598390	G	T	21598390	3	4	22	1	0	0	0	0	1	0	0	0	12918	1029	36	2	285	2	PYROXD1	12	21598390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72077	21598390	112253505	12718	14864											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					88	366					0	0	1	0	0	C	21624421	T	C	21624421	2	2	22	1	0	0	0	0	0	0	0	1	13253	1683	59	3		3	RECQL	12	21624421	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26031	21624421	112227474	12719	14865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					43	168					0	0	1	0	0	T	21644468	C	T	21644468	3	4	22	1	0	0	0	0	1	0	0	0	13253	768	27	1	1802	1	RECQL	12	21644468	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20047	21644468	112207427	12720	14866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540141.1_Missense_Mutation_p.F29V|GOLT1B_ENST00000535593.1_Intron	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													81	309					0	0	1	0	0	G	21659878	T	G	21659878	3	3	22	1	0	0	0	0	1	0	0	0	6610	1609	56	3	91	3	GOLT1B	12	21659878	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15410	21659878	112192017	12721	14867											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	286					0	0	1	0	0	G	21690005	A	G	21690005	2	3	22	1	0	0	0	0	0	0	0	1	6954	214	8	3		3	GYS2	12	21690005	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30127	21690005	112161890	12722	14868											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	348					0	0	1	0	0	T	21795006	C	T	21795006	3	4	22	1	0	0	0	0	1	0	0	0	8740	536	19	1	545	1	LDHB	12	21795006	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105001	21795006	112056889	12723	14869											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	78	413					0	0	1	0	0	T	21926289	C	T	21926289	3	4	22	1	0	0	0	0	1	0	0	0	8100	768	27	1	1020	1	KCNJ8	12	21926289	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131283	21926289	111925606	12724	14870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000345162.2_Silent_p.G1486G|ABCC9_ENST00000261200.4_Intron	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													6	206					0	0	1	0	0	G	21958192	A	G	21958192	2	3	22	1	0	0	0	0	0	0	0	1	59	378	14	3		3	ABCC9	12	21958192	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31903	21958192	111893703	12725	14871											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	207					0	0	1	0	0	A	21998636	G	A	21998636	2	1	22	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	12726	14872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536558.1_Intron|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.A74T|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000404299.3_Missense_Mutation_p.A74T	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													84	353					0	0	1	0	0	T	22486947	C	T	22486947	3	4	22	1	0	0	0	0	1	0	0	0	15287	768	27	1	870	1	ST8SIA1	12	22486947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	488311	22486947	111364948	12727	14873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536558.1_Intron|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.A17T|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000404299.3_Missense_Mutation_p.A17T	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													105	412					0	0	1	0	0	T	22487118	C	T	22487118	3	4	22	1	0	0	0	0	1	0	0	0	15287	739	26	2	1041	2	ST8SIA1	12	22487118	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171	22487118	111364777	12728	14874											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541536.1_Intron|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000396007.2_Missense_Mutation_p.A69D|SOX5_ENST00000537393.1_Missense_Mutation_p.A420D|SOX5_ENST00000545921.1_Missense_Mutation_p.A445D|SOX5_ENST00000309359.1_Missense_Mutation_p.A442D|SOX5_ENST00000451604.2_Missense_Mutation_p.A455D			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													112	497					9.0003e-69	1.14156e-68	1	1	0	T	23716316	G	T	23716316	3	4	22	1	0	0	0	0	1	0	0	0	15008	971	34	2	947	2	SOX5	12	23716316	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1229198	23716316	110135579	12729	14875											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541536.1_Silent_p.A215A|SOX5_ENST00000381381.2_Silent_p.A215A|SOX5_ENST00000537393.1_Silent_p.A193A|SOX5_ENST00000541847.1_Silent_p.A218A|SOX5_ENST00000545921.1_Silent_p.A218A|SOX5_ENST00000309359.1_Silent_p.A215A|SOX5_ENST00000451604.2_Silent_p.A228A			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													76	314					3.25985e-27	3.7718e-27	1	1	0	T	23893858	G	T	23893858	2	4	22	1	0	0	0	0	0	0	0	1	15008	987	35	2		2	SOX5	12	23893858	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177542	23893858	109958037	12730	14876											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381381.2_5'UTR|SOX5_ENST00000537393.1_Missense_Mutation_p.D6G|SOX5_ENST00000541847.1_Intron|SOX5_ENST00000536850.1_5'UTR|SOX5_ENST00000545921.1_Intron|SOX5_ENST00000309359.1_5'UTR|SOX5_ENST00000441133.2_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													10	295					0	0	1	0	0	C	24102519	T	C	24102519	3	2	22	1	0	0	0	0	1	0	0	0	15008	1435	50	3	2344	3	SOX5	12	24102519	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	208661	24102519	109749376	12731	14877											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000342945.5_Missense_Mutation_p.G107E|BCAT1_ENST00000539780.1_Missense_Mutation_p.G131E|BCAT1_ENST00000539282.1_Missense_Mutation_p.G180E|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000538118.1_Missense_Mutation_p.G167E	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													12	150					0	0	1	0	0	T	25031471	C	T	25031471	3	4	22	1	0	0	0	0	1	0	0	0	1352	855	30	2	685	2	BCAT1	12	25031471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	928952	25031471	108820424	12732	14878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000548766.1_Silent_p.R14R|LRMP_ENST00000547044.1_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													115	612					0	0	1	0	0	T	25232195	C	T	25232195	2	4	22	1	0	0	0	0	0	0	0	1	8995	755	27	1		1	LRMP	12	25232195	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200724	25232195	108619700	12733	14879											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000548766.1_Missense_Mutation_p.E68D|LRMP_ENST00000547044.1_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													48	270					2.43468e-25	2.79292e-25	1	1	0	T	25232657	G	T	25232657	3	4	22	1	0	0	0	0	1	0	0	0	8995	991	35	2	218	2	LRMP	12	25232657	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	462	25232657	108619238	12734	14880											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545133.1_Missense_Mutation_p.S552N|CASC1_ENST00000537577.1_Missense_Mutation_p.S499N|CASC1_ENST00000395987.3_Missense_Mutation_p.S617N|CASC1_ENST00000395990.2_Missense_Mutation_p.S571N|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													51	232					0	0	1	0	0	T	25263104	C	T	25263104	3	4	22	1	0	0	0	0	1	0	0	0	2678	797	28	2	326	2	CASC1	12	25263104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30447	25263104	108588791	12735	14881											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)			12	88					0	0	1	0	0	T	25398284	C	T	25398284	3	4	22	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135180	25398284	108453611	12736	14882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000458174.2_Missense_Mutation_p.K146E|IFLTD1_ENST00000413632.2_Missense_Mutation_p.K146E|IFLTD1_ENST00000282881.6_Missense_Mutation_p.K125E|IFLTD1_ENST00000445693.1_Missense_Mutation_p.K62E	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													61	236					0	0	1	0	0	C	25699363	T	C	25699363	3	2	22	1	0	0	0	0	1	0	0	0	7574	1792	62	3	817	3	IFLTD1	12	25699363	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	301079	25699363	108152532	12737	14883											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539744.1_5'UTR|IFLTD1_ENST00000458174.2_Missense_Mutation_p.T84P|IFLTD1_ENST00000413632.2_Missense_Mutation_p.T84P|IFLTD1_ENST00000445693.1_Intron	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													31	150					0	0	1	0	0	G	25702320	T	G	25702320	3	3	22	1	0	0	0	0	1	0	0	0	7574	1725	60	3	1007	3	IFLTD1	12	25702320	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2957	25702320	108149575	12738	14884											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000282884.9_Nonsense_Mutation_p.R87*|RASSF8_ENST00000381352.3_Nonsense_Mutation_p.R87*|RASSF8_ENST00000542865.1_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													139	500					0	0	1	0	0	T	26217586	C	T	26217586	4	4	22	1	0	0	0	0	0	1	0	0	13144	760	27	1	265	1	RASSF8	12	26217586	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	515266	26217586	107634309	12739	14885											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535504.1_Missense_Mutation_p.G71S|SSPN_ENST00000422622.2_Intron|SSPN_ENST00000540266.1_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													7	51					0	0	1	0	0	A	26348816	G	A	26348816	3	1	22	1	0	0	0	0	1	0	0	0	15244	1232	43	2	213	2	SSPN	12	26348816	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131230	26348816	107503079	12740	14886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	684					1.49906e-05	1.53515e-05	1	1	0	T	26636792	G	T	26636792	3	4	22	1	0	0	0	0	1	0	0	0	7965	991	35	2	2318	2	ITPR2	12	26636792	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	287976	26636792	107215103	12741	14887											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	249					0	0	1	0	0	A	26809444	G	A	26809444	3	1	22	1	0	0	0	0	1	0	0	0	7965	1058	37	1	6031	1	ITPR2	12	26809444	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	172652	26809444	107042451	12742	14888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													326	1343					0	0	1	0	0	T	26816642	C	T	26816642	2	4	22	1	0	0	0	0	0	0	0	1	7965	755	27	1		1	ITPR2	12	26816642	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7198	26816642	107035253	12743	14889											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	167					7.34454e-26	8.44522e-26	1	1	0	T	27116329	G	T	27116329	3	4	22	1	0	0	0	0	1	0	0	0	5898	971	34	2	592	2	FGFR1OP2	12	27116329	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299687	27116329	106735566	12744	14890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	270					7.37877e-41	8.9561e-41	1	1	0	A	27152544	C	A	27152544	3	1	22	1	0	0	0	0	1	0	0	0	16035	796	28	2	1440	2	TM7SF3	12	27152544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36215	27152544	106699351	12745	14891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	33					0	0	1	0	0	T	27234975	C	T	27234975	3	4	22	1	0	0	0	0	1	0	0	0	1718	826	29	2	375	2	C12orf71	12	27234975	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82431	27234975	106616920	12746	14892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													127	572					0	0	1	0	0	C	27475324	A	C	27475324	3	2	22	1	0	0	0	0	1	0	0	0	15360	14	1	3	1381	3	STK38L	12	27475324	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	240349	27475324	106376571	12747	14893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	278					0	0	1	0	0	T	27869269	C	T	27869269	3	4	22	1	0	0	0	0	1	0	0	0	9893	739	26	2	209	2	MRPS35	12	27869269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	393945	27869269	105982626	12748	14894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000306172.5_Silent_p.Q105Q|CCDC91_ENST00000539107.1_Silent_p.Q135Q|CCDC91_ENST00000381259.1_Silent_p.Q135Q|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_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													10	291					0	0	1	0	0	A	28459812	G	A	28459812	2	1	22	1	0	0	0	0	0	0	0	1	2890	962	34	2		2	CCDC91	12	28459812	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	590543	28459812	105392083	12749	14895											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000306172.5_Missense_Mutation_p.T339N|CCDC91_ENST00000539107.1_Missense_Mutation_p.T333N|CCDC91_ENST00000381259.1_Missense_Mutation_p.T369N|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Missense_Mutation_p.T333N			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													15	62					4.7546e-09	4.99022e-09	1	1	0	A	28636989	C	A	28636989	3	1	22	1	0	0	0	0	1	0	0	0	2890	565	20	2	1148	2	CCDC91	12	28636989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177177	28636989	105214906	12750	14896											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29469871C>T	ENST00000182377.4	+	9	1321	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y	FAR2_ENST00000547116.1_Silent_p.Y254Y|FAR2_ENST00000536681.2_Silent_p.Y351Y|RP11-996F15.2_ENST00000553105.1_RNA	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	351					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													236	1011					0	0	1	0	0	T	29469871	C	T	29469871	2	4	22	1	0	0	0	0	0	0	0	1	5708	576	20	2		2	FAR2	12	29469871	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	832882	29469871	104382024	12751	14897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_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													10	118					0	0	1	0	0	T	29624906	C	T	29624906	3	4	22	1	0	0	0	0	1	0	0	0	11370	739	26	2	1771	2	OVCH1	12	29624906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155035	29624906	104226989	12752	14898	97	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_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													32	94					0	0	1	0	0	T	29624909	C	T	29624909	3	4	22	1	0	0	0	0	1	0	0	0	11370	478	17	2	1774	2	OVCH1	12	29624909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3	29624909	104226986	12753	14899	97	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_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													111	637					0	0	1	0	0	A	29629167	G	A	29629167	2	1	22	1	0	0	0	0	0	0	0	1	11370	1140	40	1		1	OVCH1	12	29629167	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4258	29629167	104222728	12754	14900											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	230					0	0	1	0	0	A	29644056	G	A	29644056	3	1	22	1	0	0	0	0	1	0	0	0	11370	1174	41	2	2976	2	OVCH1	12	29644056	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14889	29644056	104207839	12755	14901											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	359					0	0	1	0	0	A	29649590	G	A	29649590	3	1	22	1	0	0	0	0	1	0	0	0	11370	1058	37	1	3430	1	OVCH1	12	29649590	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5534	29649590	104202305	12756	14902											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.R892C|TMTC1_ENST00000551659.1_Missense_Mutation_p.R930C	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													107	613					0	0	1	0	0	A	29659826	G	A	29659826	3	1	22	1	0	0	0	0	1	0	0	0	16320	1058	37	1	50	1	TMTC1	12	29659826	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10236	29659826	104192069	12757	14903											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000319685.8_5'UTR|RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000552618.1_Missense_Mutation_p.I628V|TMTC1_ENST00000551659.1_Missense_Mutation_p.I666V	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													64	252					0	0	1	0	0	C	29673629	T	C	29673629	3	2	22	1	0	0	0	0	1	0	0	0	16320	1493	52	3	866	3	TMTC1	12	29673629	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13803	29673629	104178266	12758	14904											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000319685.8_5'UTR|RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000552618.1_Missense_Mutation_p.R621W|TMTC1_ENST00000551659.1_Missense_Mutation_p.R659W	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													45	193					0	0	1	0	0	A	29673650	G	A	29673650	3	1	22	1	0	0	0	0	1	0	0	0	16320	1086	38	1	887	1	TMTC1	12	29673650	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	29673650	104178245	12759	14905											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539277.1_Silent_p.R515R|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Silent_p.R469R|TMTC1_ENST00000552618.1_Silent_p.R539R|TMTC1_ENST00000551659.1_Silent_p.R577R	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													63	286					9.4991e-31	1.11549e-30	1	1	0	T	29709921	G	T	29709921	2	4	22	1	0	0	0	0	0	0	0	1	16320	1190	42	2		2	TMTC1	12	29709921	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36271	29709921	104141974	12760	14906											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	252					0	0	1	0	0	G	30806011	A	G	30806011	3	3	22	1	0	0	0	0	1	0	0	0	7842	101	4	3	1181	3	IPO8	12	30806011	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1096090	30806011	103045884	12761	14907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	480					0	0	1	0	0	G	30823918	T	G	30823918	3	3	22	1	0	0	0	0	1	0	0	0	7842	1609	56	3	2159	3	IPO8	12	30823918	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17907	30823918	103027977	12762	14908											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000298892.5_Intron|CAPRIN2_ENST00000417045.1_Silent_p.N945N|CAPRIN2_ENST00000308433.5_Intron|CAPRIN2_ENST00000251071.5_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													107	469					0	0	1	0	0	A	30863426	G	A	30863426	2	1	22	1	0	0	0	0	0	0	0	1	2654	1044	36	2		2	CAPRIN2	12	30863426	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39508	30863426	102988469	12763	14909											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000298892.5_Missense_Mutation_p.D699N|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.D699N|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.D366N|CAPRIN2_ENST00000395805.2_Intron	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													63	345					0	0	1	0	0	T	30873798	C	T	30873798	3	4	22	1	0	0	0	0	1	0	0	0	2654	884	31	1	1316	1	CAPRIN2	12	30873798	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10372	30873798	102978097	12764	14910											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000298892.5_Silent_p.D612D|CAPRIN2_ENST00000417045.1_Silent_p.D612D|CAPRIN2_ENST00000308433.5_Silent_p.D279D|CAPRIN2_ENST00000395805.2_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													52	205					0	0	1	0	0	G	30878969	A	G	30878969	2	3	22	1	0	0	0	0	0	0	0	1	2654	330	12	3		3	CAPRIN2	12	30878969	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5171	30878969	102972926	12765	14911											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000298892.5_Missense_Mutation_p.A8T|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.A8T|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000395805.2_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)	82	694					0	0	1	0	0	T	30906676	C	T	30906676	3	4	22	1	0	0	0	0	1	0	0	0	2654	797	28	2	3433	2	CAPRIN2	12	30906676	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27707	30906676	102945219	12766	14912											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535215.1_Missense_Mutation_p.L149M|TSPAN11_ENST00000544427.1_Missense_Mutation_p.L210M|TSPAN11_ENST00000546076.1_Missense_Mutation_p.L220M	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													28	109					3.99451e-17	4.40333e-17	1	1	0	A	31136041	C	A	31136041	3	1	22	1	0	0	0	0	1	0	0	0	16696	680	24	2	680	2	TSPAN11	12	31136041	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	229365	31136041	102715854	12767	14913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545668.1_Missense_Mutation_p.L729M|DDX11_ENST00000228264.6_Missense_Mutation_p.L703M|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000542838.1_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)			12	169					0.00244969	0.00247089	1	1	0	A	31254899	C	A	31254899	3	1	22	1	0	0	0	0	1	0	0	0	4366	912	32	2	2263	2	DDX11	12	31254899	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118858	31254899	102596996	12768	14914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545668.1_Silent_p.G797G|DDX11_ENST00000228264.6_Silent_p.G771G|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Silent_p.G747G|DDX11_ENST00000542838.1_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)			38	224					0	0	1	0	0	T	31255888	C	T	31255888	2	4	22	1	0	0	0	0	0	0	0	1	4366	697	25	2		2	DDX11	12	31255888	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	989	31255888	102596007	12769	14915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000306833.6_Missense_Mutation_p.F581S|DENND5B_ENST00000536562.1_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													12	42					0	0	1	0	0	G	31600696	A	G	31600696	3	3	22	1	0	0	0	0	1	0	0	0	4465	14	1	3	2251	3	DENND5B	12	31600696	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	344808	31600696	102251199	12770	14916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	494					0	0	1	0	0	T	32481286	C	T	32481286	3	4	22	1	0	0	0	0	1	0	0	0	1427	643	23	1	1915	1	BICD1	12	32481286	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	880590	32481286	101370609	12771	14917											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	345					0	0	1	0	0	C	32490443	T	C	32490443	3	2	22	1	0	0	0	0	1	0	0	0	1427	1406	49	3	2289	3	BICD1	12	32490443	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9157	32490443	101361452	12772	14918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000531134.1_Missense_Mutation_p.L537M|FGD4_ENST00000546442.1_Missense_Mutation_p.L359M|FGD4_ENST00000525053.1_Missense_Mutation_p.L564M|FGD4_ENST00000534526.2_Missense_Mutation_p.L589M|FGD4_ENST00000381025.3_Missense_Mutation_p.L204M|FGD4_ENST00000266482.3_Missense_Mutation_p.L204M	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													106	440					4.4634e-40	5.40684e-40	1	1	0	A	32772647	C	A	32772647	3	1	22	1	0	0	0	0	1	0	0	0	5868	796	28	2	1388	2	FGD4	12	32772647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	282204	32772647	101079248	12773	14919											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000531134.1_Missense_Mutation_p.P572T|FGD4_ENST00000546442.1_Missense_Mutation_p.P394T|FGD4_ENST00000525053.1_Missense_Mutation_p.P599T|FGD4_ENST00000534526.2_Missense_Mutation_p.P624T|FGD4_ENST00000381025.3_Missense_Mutation_p.P239T|FGD4_ENST00000266482.3_Missense_Mutation_p.P239T	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													91	362					1.51503e-27	1.75539e-27	1	1	0	A	32772752	C	A	32772752	3	1	22	1	0	0	0	0	1	0	0	0	5868	855	30	2	1493	2	FGD4	12	32772752	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105	32772752	101079143	12774	14920											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000531134.1_Nonsense_Mutation_p.R643*|FGD4_ENST00000546442.1_Nonsense_Mutation_p.R465*|FGD4_ENST00000525053.1_Nonsense_Mutation_p.R670*|FGD4_ENST00000534526.2_Nonsense_Mutation_p.R695*|FGD4_ENST00000266482.3_Nonsense_Mutation_p.R310*	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													79	338					0	0	1	0	0	T	32778624	C	T	32778624	4	4	22	1	0	0	0	0	0	1	0	0	5868	644	23	1	1718	1	FGD4	12	32778624	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5872	32778624	101073271	12775	14921											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358214.5_Missense_Mutation_p.C483Y|DNM1L_ENST00000381000.4_Missense_Mutation_p.C483Y|DNM1L_ENST00000414834.2_Missense_Mutation_p.C267Y|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000266481.6_Missense_Mutation_p.C470Y|DNM1L_ENST00000547312.1_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													56	281					0	0	1	0	0	A	32884840	G	A	32884840	3	1	22	1	0	0	0	0	1	0	0	0	4698	1377	48	2	1455	2	DNM1L	12	32884840	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106216	32884840	100967055	12776	14922											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358214.5_Nonsense_Mutation_p.E678*|DNM1L_ENST00000381000.4_Nonsense_Mutation_p.E704*|DNM1L_ENST00000414834.2_Nonsense_Mutation_p.E499*|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000266481.6_Nonsense_Mutation_p.E665*|DNM1L_ENST00000547312.1_Nonsense_Mutation_p.E691*|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													42	436					1.8453e-21	2.07902e-21	1	1	0	T	32895632	G	T	32895632	4	4	22	1	0	0	0	0	0	1	0	0	4698	943	33	2	2178	2	DNM1L	12	32895632	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10792	32895632	100956263	12777	14923											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	364					1.16068e-44	1.42057e-44	1	1	0	A	33003785	C	A	33003785	3	1	22	1	0	0	0	0	1	0	0	0	12033	593	21	2	1392	2	PKP2	12	33003785	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108153	33003785	100848110	12778	14924											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	304					0	0	1	0	0	T	33031179	C	T	33031179	3	4	22	1	0	0	0	0	1	0	0	0	12033	768	27	1	2058	1	PKP2	12	33031179	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27394	33031179	100820716	12779	14925											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	201					1.06522e-23	1.21267e-23	1	1	0	T	33559978	G	T	33559978	3	4	22	1	0	0	0	0	1	0	0	0	15523	942	33	2	768	2	SYT10	12	33559978	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	528799	33559978	100291917	12780	14926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													225	977					0	0	1	0	0	C	33579114	T	C	33579114	2	2	22	1	0	0	0	0	0	0	0	1	15523	1683	59	3		3	SYT10	12	33579114	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19136	33579114	100272781	12781	14927											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													201	938					0	0	1	0	0	C	34178927	T	C	34178927	3	2	22	1	0	0	0	0	1	0	0	0	508	1696	59	3	509	3	ALG10	12	34178927	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	599813	34178927	99672968	12782	14928											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													217	1018					0	0	1	0	0	A	38710827	G	A	38710827	2	1	22	1	0	0	0	0	0	0	0	1	509	991	35	2		2	ALG10B	12	38710827	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4531900	38710827	95141068	12783	14929											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													155	691					0	0	1	0	0	A	38714900	G	A	38714900	3	1	22	1	0	0	0	0	1	0	0	0	509	942	33	2	1317	2	ALG10B	12	38714900	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4073	38714900	95136995	12784	14930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361961.3_Silent_p.S1262S|KIF21A_ENST00000547745.1_Intron|KIF21A_ENST00000544797.2_Silent_p.S1255S|KIF21A_ENST00000361418.5_Silent_p.S1275S|KIF21A_ENST00000541463.2_Silent_p.S1239S			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													43	298					0	0	1	0	0	A	39711958	G	A	39711958	2	1	22	1	0	0	0	0	0	0	0	1	8330	1219	43	2		2	KIF21A	12	39711958	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	997058	39711958	94139937	12785	14931											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361961.3_Missense_Mutation_p.S1226Y|KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1219Y|KIF21A_ENST00000361418.5_Missense_Mutation_p.S1239Y|KIF21A_ENST00000541463.2_Missense_Mutation_p.S1203Y			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													13	59					0.000151284	0.000153739	1	1	0	T	39713771	G	T	39713771	3	4	22	1	0	0	0	0	1	0	0	0	8330	942	33	2	1352	2	KIF21A	12	39713771	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1813	39713771	94138124	12786	14932											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													129	491					0	0	1	0	0	C	40012798	T	C	40012798	3	2	22	1	0	0	0	0	1	0	0	0	61	1667	58	3	1642	3	ABCD2	12	40012798	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	299027	40012798	93839097	12787	14933											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	72					0	0	1	0	0	C	40044117	A	C	40044117	3	2	22	1	0	0	0	0	1	0	0	0	1692	14	1	3	673	3	C12orf40	12	40044117	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31319	40044117	93807778	12788	14934											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			45	201					5.73435e-26	6.59582e-26	1	1	0	A	40223918	C	A	40223918	3	1	22	1	0	0	0	0	1	0	0	0	14597	739	26	2	530	2	SLC2A13	12	40223918	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179801	40223918	93627977	12789	14935											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			13	62					0	0	1	0	0	T	40499124	C	T	40499124	3	4	22	1	0	0	0	0	1	0	0	0	14597	768	27	1	1499	1	SLC2A13	12	40499124	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	275206	40499124	93352771	12790	14936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_940980.3	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													22	562					0	0	1	0	0	G	40637414	A	G	40637414	3	3	22	1	0	0	0	0	1	0	0	0	9078	449	16	3	795	3	LRRK2	12	40637414	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	138290	40637414	93214481	12791	14937											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_940980.3	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													41	434					0	0	1	0	0	T	40653291	C	T	40653291	2	4	22	1	0	0	0	0	0	0	0	1	9078	610	22	2		2	LRRK2	12	40653291	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15877	40653291	93198604	12792	14938											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_940980.3	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													151	618					0	0	1	0	0	G	40693003	A	G	40693003	3	3	22	1	0	0	0	0	1	0	0	0	9078	43	2	3	3538	3	LRRK2	12	40693003	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39712	40693003	93158892	12793	14939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_940980.3	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													78	305					0	0	1	0	0	A	40697802	G	A	40697802	3	1	22	1	0	0	0	0	1	0	0	0	9078	1087	38	1	3749	1	LRRK2	12	40697802	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4799	40697802	93154093	12794	14940											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_940980.3	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													149	715					0	0	1	0	0	A	40704345	G	A	40704345	3	1	22	1	0	0	0	0	1	0	0	0	9078	1058	37	1	4552	1	LRRK2	12	40704345	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6543	40704345	93147550	12795	14941											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000347616.1_Missense_Mutation_p.T452A|CNTN1_ENST00000547702.1_Missense_Mutation_p.T452A|CNTN1_ENST00000348761.2_Missense_Mutation_p.T441A|CNTN1_ENST00000360099.3_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													45	204					0	0	1	0	0	G	41333262	A	G	41333262	3	3	22	1	0	0	0	0	1	0	0	0	3663	275	10	3	1396	3	CNTN1	12	41333262	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	628917	41333262	92518633	12796	14942											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000347616.1_Missense_Mutation_p.P695S|CNTN1_ENST00000348761.2_Missense_Mutation_p.P684S	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													37	209					0	0	1	0	0	T	41387041	C	T	41387041	3	4	22	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	12797	14943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Nonsense_Mutation_p.R766*|CNTN1_ENST00000348761.2_Nonsense_Mutation_p.R755*	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													84	360					0	0	1	0	0	T	41410595	C	T	41410595	4	4	22	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	12798	14944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Silent_p.S839S|CNTN1_ENST00000348761.2_Silent_p.S828S	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													31	151					0	0	1	0	0	T	41414236	C	T	41414236	2	4	22	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	12799	14945											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539469.2_Missense_Mutation_p.K90N|PDZRN4_ENST00000402685.2_Missense_Mutation_p.K348N			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													56	306					7.77372e-23	8.81276e-23	1	1	0	T	41900458	G	T	41900458	3	4	22	1	0	0	0	0	1	0	0	0	11757	962	34	2	1131	2	PDZRN4	12	41900458	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	486222	41900458	91951437	12800	14946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539469.2_Missense_Mutation_p.R188Q|PDZRN4_ENST00000402685.2_Missense_Mutation_p.R446Q			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													94	478					0	0	1	0	0	A	41949534	G	A	41949534	3	1	22	1	0	0	0	0	1	0	0	0	11757	1116	39	1	1436	1	PDZRN4	12	41949534	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49076	41949534	91902361	12801	14947											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	270					0	0	1	0	0	A	42499768	G	A	42499768	3	1	22	1	0	0	0	0	1	0	0	0	6944	1377	48	2	622	2	GXYLT1	12	42499768	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	550234	42499768	91352127	12802	14948											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	179					0	0	1	0	0	T	42706924	C	T	42706924	3	4	22	1	0	0	0	0	1	0	0	0	17654	768	27	1	58	1	ZCRB1	12	42706924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207156	42706924	91144971	12803	14949											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000345127.3_Missense_Mutation_p.F156S|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.F156S|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.F156S|PRICKLE1_ENST00000445766.2_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													66	269					0	0	1	0	0	G	42862549	A	G	42862549	3	3	22	1	0	0	0	0	1	0	0	0	12538	14	1	3	2044	3	PRICKLE1	12	42862549	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	155625	42862549	90989346	12804	14950											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	140					8.24728e-16	9.03206e-16	1	1	0	T	43777426	G	T	43777426	3	4	22	1	0	0	0	0	1	0	0	0	265	942	33	2	1035	2	ADAMTS20	12	43777426	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	914877	43777426	90074469	12805	14951											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	145					0.000308642	0.000312942	1	1	0	T	43821235	G	T	43821235	3	4	22	1	0	0	0	0	1	0	0	0	265	971	34	2	1800	2	ADAMTS20	12	43821235	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43809	43821235	90030660	12806	14952											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	135					0	0	1	0	0	G	43886389	T	G	43886389	3	3	22	1	0	0	0	0	1	0	0	0	265	1725	60	3	4872	3	ADAMTS20	12	43886389	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	65154	43886389	89965506	12807	14953											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Missense_Mutation_p.I195V|PUS7L_ENST00000551923.1_Missense_Mutation_p.I195V|PUS7L_ENST00000344862.5_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													76	247					0	0	1	0	0	C	44148466	T	C	44148466	3	2	22	1	0	0	0	0	1	0	0	0	12886	1493	52	3	1554	3	PUS7L	12	44148466	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	262077	44148466	89703429	12808	14954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	283					6.60958e-23	7.49606e-23	1	1	0	A	44166052	C	A	44166052	3	1	22	1	0	0	0	0	1	0	0	0	7869	681	24	2	387	2	IRAK4	12	44166052	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17586	44166052	89685843	12809	14955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	117					0	0	1	0	0	T	44191256	C	T	44191256	5	4	22	1	0	0	0	0	0	0	1	0	16843	695	24	2	455	2	TWF1	12	44191256	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25204	44191256	89660639	12810	14956											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000551601.1_Missense_Mutation_p.T722I|NELL2_ENST00000452445.2_Missense_Mutation_p.T770I|NELL2_ENST00000395487.2_Missense_Mutation_p.T769I|NELL2_ENST00000333837.4_Missense_Mutation_p.T793I|NELL2_ENST00000549027.1_Missense_Mutation_p.T769I|NELL2_ENST00000437801.2_Missense_Mutation_p.T820I	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													36	261					0	0	1	0	0	A	44913879	G	A	44913879	3	1	22	1	0	0	0	0	1	0	0	0	10381	1261	44	2	149	2	NELL2	12	44913879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	722623	44913879	88938016	12811	14957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000551601.1_Silent_p.C683C|NELL2_ENST00000452445.2_Silent_p.C731C|NELL2_ENST00000395487.2_Silent_p.C730C|NELL2_ENST00000333837.4_Silent_p.C754C|NELL2_ENST00000549027.1_Silent_p.C730C|NELL2_ENST00000437801.2_Silent_p.C781C	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													12	97					0	0	1	0	0	G	44913995	A	G	44913995	2	3	22	1	0	0	0	0	0	0	0	1	10381	41	2	3		3	NELL2	12	44913995	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	116	44913995	88937900	12812	14958											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000551601.1_Silent_p.C391C|NELL2_ENST00000452445.2_Silent_p.C392C|NELL2_ENST00000395487.2_Silent_p.C391C|NELL2_ENST00000333837.4_Silent_p.C415C|NELL2_ENST00000549027.1_Silent_p.C391C|NELL2_ENST00000437801.2_Silent_p.C442C	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													54	246					0	0	1	0	0	A	45105088	G	A	45105088	2	1	22	1	0	0	0	0	0	0	0	1	10381	1311	46	2		2	NELL2	12	45105088	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191093	45105088	88746807	12813	14959											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000551601.1_Missense_Mutation_p.G131S|NELL2_ENST00000452445.2_Missense_Mutation_p.G132S|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000395487.2_Missense_Mutation_p.G131S|NELL2_ENST00000333837.4_Missense_Mutation_p.G155S|NELL2_ENST00000549027.1_Missense_Mutation_p.G131S|NELL2_ENST00000437801.2_Missense_Mutation_p.G182S	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													113	529					0	0	1	0	0	T	45173747	C	T	45173747	3	4	22	1	0	0	0	0	1	0	0	0	10381	681	24	2	2124	2	NELL2	12	45173747	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68659	45173747	88678148	12814	14960											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45269691A>C	ENST00000429094.2	-	0	466				NELL2_ENST00000551601.1_Intron|NELL2_ENST00000452445.2_Intron|NELL2_ENST00000333837.4_Intron|NELL2_ENST00000548826.1_De_novo_Start_OutOfFrame|NELL2_ENST00000549027.1_Intron|NELL2_ENST00000437801.2_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													64	252					0	0	1	0	0	C	45269691	A	C	45269691	1	2	22	1	0	0	0	0	0	0	0	0	10381	29	1	3		3	NELL2	12	45269691	Translation_Start_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	95944	45269691	88582204	12815	14961											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	127					0	0	1	0	0	T	45429866	C	T	45429866	2	4	22	1	0	0	0	0	0	0	0	1	4284	755	27	1		1	DBX2	12	45429866	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160175	45429866	88422029	12816	14962											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								13	503					0	0	1	0	0	A	46230589	G	A	46230589	3	1	22	1	0	0	0	0	1	0	0	0	912	1058	37	1	868	1	ARID2	12	46230589	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	800723	46230589	87621306	12817	14963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.S325N|ARID2_ENST00000444670.1_Missense_Mutation_p.S84N	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								110	451					0	0	1	0	0	A	46233202	G	A	46233202	3	1	22	1	0	0	0	0	1	0	0	0	912	1029	36	2	1463	2	ARID2	12	46233202	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2613	46233202	87618693	12818	14964											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Missense_Mutation_p.T201A|ARID2_ENST00000422737.1_Missense_Mutation_p.T1444A|ARID2_ENST00000444670.1_Missense_Mutation_p.T1203A	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								44	214					0	0	1	0	0	G	46254587	A	G	46254587	3	3	22	1	0	0	0	0	1	0	0	0	912	159	6	3	4839	3	ARID2	12	46254587	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21385	46254587	87597308	12819	14965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000549049.1_Silent_p.V420V|SLC38A1_ENST00000439706.1_Silent_p.V420V|SLC38A1_ENST00000552197.1_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													60	215					0	0	1	0	0	A	46591706	G	A	46591706	2	1	22	1	0	0	0	0	0	0	0	1	14656	1045	37	1		1	SLC38A1	12	46591706	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	337119	46591706	87260189	12820	14966											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	1094					3.4779e-39	4.20191e-39	1	1	0	T	46758265	G	T	46758265	2	4	22	1	0	0	0	0	0	0	0	1	14659	987	35	2		2	SLC38A2	12	46758265	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166559	46758265	87093630	12821	14967											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	407					0	0	1	0	0	T	47168916	C	T	47168916	2	4	22	1	0	0	0	0	0	0	0	1	14661	465	17	2		2	SLC38A4	12	47168916	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	410651	47168916	86682979	12822	14968											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	316					0	0	1	0	0	T	47173814	C	T	47173814	5	4	22	1	0	0	0	0	0	0	1	0	14661	811	28	2	1190	2	SLC38A4	12	47173814	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4898	47173814	86678081	12823	14969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000321382.3_Missense_Mutation_p.E356G|AMIGO2_ENST00000550413.1_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													59	624					0	0	1	0	0	C	47471719	T	C	47471719	3	2	22	1	0	0	0	0	1	0	0	0	572	1551	54	3	505	3	AMIGO2	12	47471719	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	297905	47471719	86380176	12824	14970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000321382.3_Missense_Mutation_p.R203Q|AMIGO2_ENST00000550413.1_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													56	288					0	0	1	0	0	T	47472178	C	T	47472178	3	4	22	1	0	0	0	0	1	0	0	0	572	884	31	1	964	1	AMIGO2	12	47472178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	459	47472178	86379717	12825	14971											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380650.4_Intron|RPAP3_ENST00000432584.3_Silent_p.P265P	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													30	153					0	0	1	0	0	T	48073291	C	T	48073291	2	4	22	1	0	0	0	0	0	0	0	1	13595	755	27	1		1	RPAP3	12	48073291	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	601113	48073291	85778604	12826	14972											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380650.4_Missense_Mutation_p.A342T|RPAP3_ENST00000432584.3_Missense_Mutation_p.A183T	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													41	205					0	0	1	0	0	T	48075569	C	T	48075569	3	4	22	1	0	0	0	0	1	0	0	0	13595	797	28	2	1005	2	RPAP3	12	48075569	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2278	48075569	85776326	12827	14973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48110168C>A	ENST00000542202.1	-	0	415				ENDOU_ENST00000422538.3_Missense_Mutation_p.Q222H|ENDOU_ENST00000229003.3_Missense_Mutation_p.Q181H|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000545824.2_Missense_Mutation_p.Q159H			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)	56	290					3.4597e-24	3.94879e-24	1	1	0	A	48110168	C	A	48110168	1	1	22	1	0	0	0	0	0	0	0	0	5144	680	24	2		2	ENDOU	12	48110168	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34599	48110168	85741727	12828	14974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48134179C>A	ENST00000405493.2	-	22	2315		c.e22-1		RAPGEF3_ENST00000449771.2_Splice_Site|RAPGEF3_ENST00000389212.3_Splice_Site|RAPGEF3_ENST00000171000.4_Splice_Site|RAPGEF3_ENST00000549151.1_Splice_Site|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000548919.1_Intron	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	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													42	192					9.62906e-15	1.04819e-14	1	1	0	A	48134179	C	A	48134179	5	1	22	1	0	0	0	0	0	0	1	0	13097	811	28	2	568	2	RAPGEF3	12	48134179	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24011	48134179	85717716	12829	14975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449771.2_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000395358.3_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000389212.3_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000171000.4_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000549151.1_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000548919.1_Nonsense_Mutation_p.R474*	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	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													58	269					0	0	1	0	0	A	48141337	G	A	48141337	4	1	22	1	0	0	0	0	0	1	0	0	13097	1095	38	1	1281	1	RAPGEF3	12	48141337	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7158	48141337	85710558	12830	14976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427332.2_Missense_Mutation_p.R561Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R617Q|HDAC7_ENST00000354334.3_Missense_Mutation_p.R563Q|HDAC7_ENST00000552960.1_Missense_Mutation_p.R583Q|HDAC7_ENST00000488927.1_5'UTR	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													33	140					0	0	1	0	0	T	48185667	C	T	48185667	3	4	22	1	0	0	0	0	1	0	0	0	7053	652	23	1	1228	1	HDAC7	12	48185667	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44330	48185667	85666228	12831	14977											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380610.4_Missense_Mutation_p.P502S|HDAC7_ENST00000354334.3_Missense_Mutation_p.P448S|HDAC7_ENST00000552960.1_Missense_Mutation_p.P468S	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													47	223					0	0	1	0	0	A	48188548	G	A	48188548	3	1	22	1	0	0	0	0	1	0	0	0	7053	1232	43	2	1582	2	HDAC7	12	48188548	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2881	48188548	85663347	12832	14978											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380610.4_Missense_Mutation_p.R455Q|HDAC7_ENST00000354334.3_Missense_Mutation_p.R401Q|HDAC7_ENST00000552960.1_Missense_Mutation_p.R421Q	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													17	745					0	0	1	0	0	T	48188688	C	T	48188688	3	4	22	1	0	0	0	0	1	0	0	0	7053	652	23	1	1722	1	HDAC7	12	48188688	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140	48188688	85663207	12833	14979											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395324.2_Silent_p.I367I|VDR_ENST00000549336.1_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													121	593					0	0	1	0	0	A	48238712	G	A	48238712	2	1	22	1	0	0	0	0	0	0	0	1	17209	1164	41	2		2	VDR	12	48238712	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50024	48238712	85613183	12834	14980											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000256686.6_Missense_Mutation_p.L155M|TMEM106C_ENST00000550552.1_Missense_Mutation_p.L155M|TMEM106C_ENST00000449758.2_Missense_Mutation_p.L155M|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000552561.1_Missense_Mutation_p.L155M|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													16	291					3.52763e-06	3.62938e-06	1	1	0	A	48359923	C	A	48359923	3	1	22	1	0	0	0	0	1	0	0	0	16082	680	24	2	477	2	TMEM106C	12	48359923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121211	48359923	85491972	12835	14981											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48371104G>A	ENST00000380518.3	-	46	3436	c.3273_splice	c.e46+1	p.A1091_splice	COL2A1_ENST00000337299.6_Splice_Site_p.A1022_splice|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	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													9	403					0	0	1	0	0	A	48371104	G	A	48371104	5	1	22	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	12836	14982											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	322					0	0	1	0	0	G	48391959	A	G	48391959	3	3	22	1	0	0	0	0	1	0	0	0	3710	333	12	3	4332	3	COL2A1	12	48391959	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20855	48391959	85459936	12837	14983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000547587.1_Missense_Mutation_p.T619N|PFKM_ENST00000312352.7_Missense_Mutation_p.T619N|PFKM_ENST00000395233.2_Missense_Mutation_p.T588N|PFKM_ENST00000551804.1_Missense_Mutation_p.T588N|PFKM_ENST00000359794.5_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													15	431					3.52763e-06	3.62938e-06	1	1	0	A	48537573	C	A	48537573	3	1	22	1	0	0	0	0	1	0	0	0	11813	565	20	2	2147	2	PFKM	12	48537573	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145614	48537573	85314322	12838	14984											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000547587.1_Missense_Mutation_p.A681T|PFKM_ENST00000312352.7_Missense_Mutation_p.A681T|PFKM_ENST00000395233.2_Missense_Mutation_p.A650T|PFKM_ENST00000551804.1_Missense_Mutation_p.A650T|PFKM_ENST00000359794.5_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													54	323					0	0	1	0	0	A	48538862	G	A	48538862	3	1	22	1	0	0	0	0	1	0	0	0	11813	1087	38	1	2340	1	PFKM	12	48538862	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1289	48538862	85313033	12839	14985											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	207					0	0	1	0	0	G	48577906	A	G	48577906	1	3	22	1	0	0	0	0	0	0	0	0	1716	101	4	3		3	C12orf68	12	48577906	Translation_Start_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39044	48577906	85273989	12840	14986											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	62					0	0	1	0	0	A	48723547	G	A	48723547	3	1	22	1	0	0	0	0	1	0	0	0	6962	1087	38	1	475	1	H1FNT	12	48723547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145641	48723547	85128348	12841	14987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000547026.1_Missense_Mutation_p.R397Q|ZNF641_ENST00000448928.3_Missense_Mutation_p.R388Q|ZNF641_ENST00000301042.3_Missense_Mutation_p.R411Q			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													103	486					0	0	1	0	0	T	48736841	C	T	48736841	3	4	22	1	0	0	0	0	1	0	0	0	18114	884	31	1	88	1	ZNF641	12	48736841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13294	48736841	85115054	12842	14988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000547026.1_Missense_Mutation_p.R110W|ZNF641_ENST00000448928.3_Intron|ZNF641_ENST00000301042.3_Missense_Mutation_p.R124W			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													80	350					0	0	1	0	0	A	48739206	G	A	48739206	3	1	22	1	0	0	0	0	1	0	0	0	18114	1086	38	1	958	1	ZNF641	12	48739206	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2365	48739206	85112689	12843	14989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550422.1_Missense_Mutation_p.R912C|ADCY6_ENST00000357869.3_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													38	405					0	0	1	0	0	A	49165651	G	A	49165651	3	1	22	1	0	0	0	0	1	0	0	0	297	1087	38	1	629	1	ADCY6	12	49165651	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	426445	49165651	84686244	12844	14990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550422.1_Missense_Mutation_p.A457V|ADCY6_ENST00000357869.3_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													215	770					0	0	1	0	0	A	49170893	G	A	49170893	3	1	22	1	0	0	0	0	1	0	0	0	297	1203	42	2	2204	2	ADCY6	12	49170893	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5242	49170893	84681002	12845	14991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	130					2.80507e-11	2.99019e-11	1	1	0	A	49255902	C	A	49255902	5	1	22	1	0	0	0	0	0	0	1	0	13471	695	24	2	502	2	RND1	12	49255902	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85009	49255902	84595993	12846	14992											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Missense_Mutation_p.K6N			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)	131	666					0	0	1	0	0	C	49298137	A	C	49298137	3	2	22	1	0	0	0	0	1	0	0	0	2857	11	1	3	20	3	CCDC65	12	49298137	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	42235	49298137	84553758	12847	14993											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49312057G>T	ENST00000266984.5	+	5	836		c.e5-1		ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Splice_Site			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65											breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TCACTTGCTAGAATTTAGAAG	0.413													73	402					4.37588e-27	5.05892e-27	1	1	0	T	49312057	G	T	49312057	5	4	22	1	0	0	0	0	0	0	1	0	2857	956	33	2	627	2	CCDC65	12	49312057	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13920	49312057	84539838	12848	14994											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Silent_p.L222L			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	222										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGTAGAAGATCTGTGGAGAAA	0.433													105	426					0	0	1	0	0	T	49312112	C	T	49312112	2	4	22	1	0	0	0	0	0	0	0	1	2857	912	32	2		2	CCDC65	12	49312112	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	49312112	84539783	12849	14995											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Silent_p.L364L			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	364										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGAAAAAGTGCTGCCTTTTTA	0.403													44	276					0	0	1	0	0	T	49314776	C	T	49314776	2	4	22	1	0	0	0	0	0	0	0	1	2857	796	28	2		2	CCDC65	12	49314776	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2664	49314776	84537119	12850	14996											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	431					0	0	1	0	0	A	49373312	G	A	49373312	3	1	22	1	0	0	0	0	1	0	0	0	17441	1261	44	2	172	2	WNT1	12	49373312	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58536	49373312	84478583	12851	14997											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	313					0	0	1	0	0	T	49391399	C	T	49391399	2	4	22	1	0	0	0	0	0	0	0	1	4356	680	24	2		2	DDN	12	49391399	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18087	49391399	84460496	12852	14998											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	81					0	0	1	0	0	A	49392084	G	A	49392084	3	1	22	1	0	0	0	0	1	0	0	0	4356	1232	43	2	1564	2	DDN	12	49392084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	685	49392084	84459811	12853	14999											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	160					0	0	1	0	0	T	49485151	C	T	49485151	3	4	22	1	0	0	0	0	1	0	0	0	4511	768	27	1	873	1	DHH	12	49485151	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93067	49485151	84366744	12854	15000											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	109					0	0	1	0	0	T	49488219	C	T	49488219	3	4	22	1	0	0	0	0	1	0	0	0	4511	739	26	2	1125	2	DHH	12	49488219	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3068	49488219	84363676	12855	15001											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	369					0	0	1	0	0	T	49579133	C	T	49579133	3	4	22	1	0	0	0	0	1	0	0	0	16805	536	19	1	343	1	TUBA1A	12	49579133	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90914	49579133	84272762	12856	15002											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	37	275					2.2871e-25	2.62398e-25	1	1	0	T	49691311	G	T	49691311	3	4	22	1	0	0	0	0	1	0	0	0	12628	1174	41	2	1190	2	PRPH	12	49691311	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112178	49691311	84160584	12857	15003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000549275.1_Missense_Mutation_p.S64N|TROAP_ENST00000549534.1_3'UTR|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000380327.5_3'UTR|TROAP_ENST00000551245.1_Intron|TROAP_ENST00000550709.1_3'UTR|TROAP_ENST00000257909.3_Intron	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													19	106					0	0	1	0	0	A	49718041	G	A	49718041	3	1	22	1	0	0	0	0	1	0	0	0	16636	986	34	2		2	TROAP	12	49718041	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26730	49718041	84133854	12858	15004											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	326					0	0	1	0	0	A	49719388	G	A	49719388	3	1	22	1	0	0	0	0	1	0	0	0	16636	1203	42	2	554	2	TROAP	12	49719388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1347	49719388	84132507	12859	15005											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													173	755					5.63857e-76	7.19304e-76	1	1	0	T	49743036	G	T	49743036	3	4	22	1	0	0	0	0	1	0	0	0	4668	933	33	2	383	2	DNAJC22	12	49743036	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23648	49743036	84108859	12860	15006											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	214					3.61848e-18	4.01023e-18	1	1	0	T	49883338	G	T	49883338	3	4	22	1	0	0	0	0	1	0	0	0	15075	1029	36	2	206	2	SPATS2	12	49883338	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140302	49883338	83968557	12861	15007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000552557.1_3'UTR|SPATS2_ENST00000321898.6_Missense_Mutation_p.A253T			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													54	241					0	0	1	0	0	A	49893906	G	A	49893906	3	1	22	1	0	0	0	0	1	0	0	0	15075	1319	46	2	783	2	SPATS2	12	49893906	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10568	49893906	83957989	12862	15008											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	125					0	0	1	0	0	T	49933258	C	T	49933258	3	4	22	1	0	0	0	0	1	0	0	0	8077	536	19	1	61	1	KCNH3	12	49933258	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39352	49933258	83918637	12863	15009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	42					5.50884e-06	5.65664e-06	1	1	0	A	49942692	C	A	49942692	3	1	22	1	0	0	0	0	1	0	0	0	8077	796	28	2	1234	2	KCNH3	12	49942692	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9434	49942692	83909203	12864	15010											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	202					0	0	1	0	0	A	49942829	G	A	49942829	2	1	22	1	0	0	0	0	0	0	0	1	8077	1074	38	1		1	KCNH3	12	49942829	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137	49942829	83909066	12865	15011											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	307					0	0	1	0	0	T	49943286	C	T	49943286	3	4	22	1	0	0	0	0	1	0	0	0	8077	652	23	1	1565	1	KCNH3	12	49943286	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	457	49943286	83908609	12866	15012											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													158	680					6.51197e-75	8.30091e-75	1	1	0	T	49948160	G	T	49948160	3	4	22	1	0	0	0	0	1	0	0	0	8077	962	34	2	2001	2	KCNH3	12	49948160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4874	49948160	83903735	12867	15013											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000257894.2_Missense_Mutation_p.E542D			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													78	330					3.76054e-38	4.5284e-38	1	1	0	A	49993797	C	A	49993797	3	1	22	1	0	0	0	0	1	0	0	0	5543	912	32	2	1071	2	FAM186B	12	49993797	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45637	49993797	83858098	12868	15014											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352151.5_Missense_Mutation_p.R753Q|FMNL3_ENST00000293590.5_Missense_Mutation_p.R804Q|FMNL3_ENST00000550488.1_Missense_Mutation_p.R804Q	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													35	875					0	0	1	0	0	T	50042916	C	T	50042916	3	4	22	1	0	0	0	0	1	0	0	0	5986	652	23	1	696	1	FMNL3	12	50042916	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49119	50042916	83808979	12869	15015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352151.5_Missense_Mutation_p.E127K|FMNL3_ENST00000293590.5_Missense_Mutation_p.E127K|FMNL3_ENST00000550488.1_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													66	248					0	0	1	0	0	T	50055822	C	T	50055822	3	4	22	1	0	0	0	0	1	0	0	0	5986	864	30	2	2792	2	FMNL3	12	50055822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12906	50055822	83796073	12870	15016											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	60					0	0	1	0	0	A	50188802	G	A	50188802	2	1	22	1	0	0	0	0	0	0	0	1	10271	958	34	2		2	NCKAP5L	12	50188802	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132980	50188802	83663093	12871	15017											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	260					0	0	1	0	0	T	50195630	C	T	50195630	5	4	22	1	0	0	0	0	0	0	1	0	10271	521	18	2	3684	2	NCKAP5L	12	50195630	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6828	50195630	83656265	12872	15018											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	60	392					0	0	1	0	0	T	50232651	C	T	50232651	3	4	22	1	0	0	0	0	1	0	0	0	1355	710	25	2	500	2	BCDIN3D	12	50232651	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37021	50232651	83619244	12873	15019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	136					3.51602e-12	3.76992e-12	1	1	0	T	50295144	G	T	50295144	1	4	22	1	0	0	0	0	0	0	0	0	5407	1015	35	2		2	FAIM2	12	50295144	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62493	50295144	83556751	12874	15020											
AQP5	362	broad.mit.edu	37	chr12	50358797	50358798	+	Frame_Shift_Ins	INS	-	-	G													ttctgggtagggcccatcgtINSgggggcggtcctggctgcca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50358797_50358798insG	ENST00000293599.6	+	4	783_784	c.635_636insG	c.(634-636)gggfs	p.G212fs		NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	212					carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity			large_intestine(1)|lung(3)	4						GGGCCCATCGTGGGGGCGGTCC	0.614													54	657	---	---	---	---						G	50358798	-	G	50358797	7	5	22	1	0	1	1	0	0	0	0	0	826	1696	59	0	649	0	AQP5	12	50358797	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	63653	50358797	83493098	12875	15021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000312377.5_Missense_Mutation_p.R523C|RACGAP1_ENST00000427314.2_Missense_Mutation_p.R523C|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000548961.1_Missense_Mutation_p.R33C|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000454520.2_Missense_Mutation_p.R523C			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													126	568					0	0	1	0	0	A	50386039	G	A	50386039	3	1	22	1	0	0	0	0	1	0	0	0	13029	1087	38	1	347	1	RACGAP1	12	50386039	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27242	50386039	83465856	12876	15022											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000312377.5_Missense_Mutation_p.E119K|RACGAP1_ENST00000427314.2_Missense_Mutation_p.E119K|RACGAP1_ENST00000547905.1_Missense_Mutation_p.E119K|RACGAP1_ENST00000551016.1_Missense_Mutation_p.E119K|RACGAP1_ENST00000454520.2_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													63	301					0	0	1	0	0	T	50399109	C	T	50399109	3	4	22	1	0	0	0	0	1	0	0	0	13029	893	31	1	1599	1	RACGAP1	12	50399109	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13070	50399109	83452786	12877	15023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50483666G>T	ENST00000394963.4	+	7	1169		c.e7-1		SMARCD1_ENST00000381513.4_Splice_Site|SMARCD1_ENST00000548573.1_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													60	214					1.31171e-36	1.57158e-36	1	1	0	T	50483666	G	T	50483666	5	4	22	1	0	0	0	0	0	0	1	0	14831	1043	36	2	797	2	SMARCD1	12	50483666	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84557	50483666	83368229	12878	15024											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	207					0	0	1	0	0	A	50499448	G	A	50499448	3	1	22	1	0	0	0	0	1	0	0	0	6644	1087	38	1	347	1	GPD1	12	50499448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15782	50499448	83352447	12879	15025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000552823.1_Silent_p.E241E|LIMA1_ENST00000341247.4_Silent_p.E401E|LIMA1_ENST00000552909.1_Silent_p.E240E|LIMA1_ENST00000394943.3_Silent_p.E402E|LIMA1_ENST00000552491.1_Silent_p.E98E|LIMA1_ENST00000552783.1_Silent_p.E242E	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													28	331					0	0	1	0	0	T	50575758	C	T	50575758	2	4	22	1	0	0	0	0	0	0	0	1	8836	796	28	2		2	LIMA1	12	50575758	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76310	50575758	83276137	12880	15026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000552823.1_Missense_Mutation_p.A226V|LIMA1_ENST00000341247.4_Missense_Mutation_p.A386V|LIMA1_ENST00000552909.1_Missense_Mutation_p.A225V|LIMA1_ENST00000394943.3_Missense_Mutation_p.A387V|LIMA1_ENST00000552491.1_Missense_Mutation_p.A83V|LIMA1_ENST00000552783.1_Missense_Mutation_p.A227V	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													20	332					0	0	1	0	0	A	50575804	G	A	50575804	3	1	22	1	0	0	0	0	1	0	0	0	8836	1319	46	2	1130	2	LIMA1	12	50575804	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46	50575804	83276091	12881	15027											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394943.3_Missense_Mutation_p.R127G|LIMA1_ENST00000552909.1_5'UTR|RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000552783.1_5'UTR	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													93	382					0	0	1	0	0	C	50616055	T	C	50616055	3	2	22	1	0	0	0	0	1	0	0	0	8836	1588	55	3	1935	3	LIMA1	12	50616055	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	40251	50616055	83235840	12882	15028											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50848199C>T	ENST00000398473.2	+	10	1232	c.1121_splice	c.e10+1	p.R374_splice	LARP4_ENST00000518444.1_Splice_Site_p.R373_splice|LARP4_ENST00000518561.1_Splice_Site_p.R304_splice|LARP4_ENST00000293618.8_Splice_Site_p.R374_splice|LARP4_ENST00000429001.3_Splice_Site_p.R380_splice|LARP4_ENST00000522085.1_Splice_Site_p.R374_splice|LARP4_ENST00000347328.5_Splice_Site_p.R303_splice	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													23	184					0	0	1	0	0	T	50848199	C	T	50848199	5	4	22	1	0	0	0	0	0	0	1	0	8669	898	31	1	1158	1	LARP4	12	50848199	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	232144	50848199	83003696	12883	15029											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518444.1_Missense_Mutation_p.R720I|LARP4_ENST00000293618.8_Missense_Mutation_p.R650I|LARP4_ENST00000429001.3_Missense_Mutation_p.R727I|LARP4_ENST00000347328.5_Missense_Mutation_p.R650I	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													7	285					8.12818e-05	8.2724e-05	1	1	0	T	50869634	G	T	50869634	3	4	22	1	0	0	0	0	1	0	0	0	8669	942	33	2	2228	2	LARP4	12	50869634	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21435	50869634	82982261	12884	15030											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	271					0	0	1	0	0	G	51068306	A	G	51068306	2	3	22	1	0	0	0	0	0	0	0	1	4556	204	8	3		3	DIP2B	12	51068306	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	198672	51068306	82783589	12885	15031											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	209					0	0	1	0	0	A	51072569	G	A	51072569	3	1	22	1	0	0	0	0	1	0	0	0	4556	1319	46	2	1054	2	DIP2B	12	51072569	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4263	51072569	82779326	12886	15032											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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 "								64	306					3.37205e-40	4.08638e-40	1	1	0	A	51203316	C	A	51203316	3	1	22	1	0	0	0	0	1	0	0	0	1078	797	28	2	282	2	ATF1	12	51203316	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130747	51203316	82648579	12887	15033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	686					3.86236e-30	4.52529e-30	1	1	0	T	51279109	G	T	51279109	4	4	22	1	0	0	0	0	0	1	0	0	16304	1233	43	2	747	2	TMPRSS12	12	51279109	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75793	51279109	82572786	12888	15034											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541174.2_Missense_Mutation_p.A262T|SLC11A2_ENST00000262052.5_Missense_Mutation_p.A262T|SLC11A2_ENST00000547198.1_Missense_Mutation_p.A262T|SLC11A2_ENST00000262051.7_Missense_Mutation_p.A262T|SLC11A2_ENST00000545993.2_Missense_Mutation_p.A258T|SLC11A2_ENST00000547688.1_Missense_Mutation_p.A291T|SLC11A2_ENST00000546743.1_Missense_Mutation_p.A183T	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													51	248					0	0	1	0	0	T	51390647	C	T	51390647	3	4	22	1	0	0	0	0	1	0	0	0	14436	797	28	2	1015	2	SLC11A2	12	51390647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111538	51390647	82461248	12889	15035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541174.2_Silent_p.Q252Q|SLC11A2_ENST00000262052.5_Silent_p.Q252Q|SLC11A2_ENST00000547198.1_Silent_p.Q252Q|SLC11A2_ENST00000262051.7_Silent_p.Q252Q|SLC11A2_ENST00000545993.2_Silent_p.Q248Q|SLC11A2_ENST00000547688.1_Silent_p.Q281Q|SLC11A2_ENST00000546743.1_Silent_p.Q173Q	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													58	250					0	0	1	0	0	T	51390675	C	T	51390675	2	4	22	1	0	0	0	0	0	0	0	1	14436	912	32	2		2	SLC11A2	12	51390675	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28	51390675	82461220	12890	15036											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	260					8.44121e-28	9.79253e-28	1	1	0	A	51493563	C	A	51493563	5	1	22	1	0	0	0	0	0	0	1	0	15855	695	24	2	373	2	TFCP2	12	51493563	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102888	51493563	82358332	12891	15037											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000549867.1_Missense_Mutation_p.E226D|TFCP2_ENST00000548115.1_Intron|TFCP2_ENST00000307660.4_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													84	420					8.67779e-30	1.01564e-29	1	1	0	A	51502943	C	A	51502943	3	1	22	1	0	0	0	0	1	0	0	0	15855	796	28	2	870	2	TFCP2	12	51502943	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9380	51502943	82348952	12892	15038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	44					6.72482e-11	7.15107e-11	1	1	0	T	51566352	G	T	51566352	1	4	22	1	0	0	0	0	0	0	0	0	15855	986	34	2		2	TFCP2	12	51566352	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63409	51566352	82285543	12893	15039											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000333640.10_Silent_p.E139E|POU6F1_ENST00000550824.1_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													129	549					0	0	1	0	0	T	51585522	C	T	51585522	2	4	22	1	0	0	0	0	0	0	0	1	12329	680	24	2		2	POU6F1	12	51585522	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19170	51585522	82266373	12894	15040											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000333640.10_Missense_Mutation_p.V29M|POU6F1_ENST00000550824.1_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													12	87					0	0	1	0	0	T	51589917	C	T	51589917	3	4	22	1	0	0	0	0	1	0	0	0	12329	478	17	2	836	2	POU6F1	12	51589917	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4395	51589917	82261978	12895	15041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	493					0	0	1	0	0	A	51736376	G	A	51736376	2	1	22	1	0	0	0	0	0	0	0	1	3232	1078	38	1		1	CELA1	12	51736376	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146459	51736376	82115519	12896	15042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													154	1272					0	0	1	0	0	A	51752996	G	A	51752996	3	1	22	1	0	0	0	0	1	0	0	0	6257	1087	38	1	600	1	GALNT6	12	51752996	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16620	51752996	82098899	12897	15043											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52080881G>A	ENST00000354534.5	+	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	164					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													23	217					0	0	1	0	0	A	52080881	G	A	52080881	2	1	22	1	0	0	0	0	0	0	0	1	13978	1132	40	1		1	SCN8A	12	52080881	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	327885	52080881	81771014	12898	15044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52115445C>T	ENST00000354534.5	+	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	584					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													23	73					0	0	1	0	0	T	52115445	C	T	52115445	3	4	22	1	0	0	0	0	1	0	0	0	13978	768	27	1	1793	1	SCN8A	12	52115445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34564	52115445	81736450	12899	15045											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	207					0	0	1	0	0	A	52309191	G	A	52309191	3	1	22	1	0	0	0	0	1	0	0	0	224	1116	39	1	977	1	ACVRL1	12	52309191	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	193746	52309191	81542704	12900	15046											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000426655.2_Missense_Mutation_p.S86R|ACVR1B_ENST00000542485.1_Missense_Mutation_p.S34R|ACVR1B_ENST00000415850.2_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													48	218					8.86878e-18	9.80954e-18	1	1	0	A	52369215	C	A	52369215	3	1	22	1	0	0	0	0	1	0	0	0	220	796	28	2	264	2	ACVR1B	12	52369215	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60024	52369215	81482680	12901	15047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000426655.2_Missense_Mutation_p.A401T|ACVR1B_ENST00000542485.1_Missense_Mutation_p.A349T|ACVR1B_ENST00000415850.2_Missense_Mutation_p.A401T|ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000541224.1_Missense_Mutation_p.A442T	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													86	383					0	0	1	0	0	A	52380666	G	A	52380666	3	1	22	1	0	0	0	0	1	0	0	0	220	1319	46	2	1354	2	ACVR1B	12	52380666	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11451	52380666	81471229	12902	15048											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000552963.1_3'UTR|GRASP_ENST00000552049.1_Missense_Mutation_p.E27D|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													16	475					2.48551e-13	2.68178e-13	1	1	0	T	52407526	G	T	52407526	3	4	22	1	0	0	0	0	1	0	0	0	6796	933	33	2	528	2	GRASP	12	52407526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26860	52407526	81444369	12903	15049											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550082.1_Nonsense_Mutation_p.R329*|NR4A1_ENST00000394824.2_Nonsense_Mutation_p.R316*|NR4A1_ENST00000394825.1_Nonsense_Mutation_p.R316*|NR4A1_ENST00000243050.1_Nonsense_Mutation_p.R316*|NR4A1_ENST00000360284.3_Nonsense_Mutation_p.R329*			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													21	524					0	0	1	0	0	T	52449883	C	T	52449883	4	4	22	1	0	0	0	0	0	1	0	0	10680	760	27	1	952	1	NR4A1	12	52449883	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42357	52449883	81402012	12904	15050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550082.1_Missense_Mutation_p.R358W|NR4A1_ENST00000394824.2_Missense_Mutation_p.R345W|NR4A1_ENST00000394825.1_Missense_Mutation_p.R345W|NR4A1_ENST00000243050.1_Missense_Mutation_p.R345W|NR4A1_ENST00000360284.3_Missense_Mutation_p.R358W			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													29	831					0	0	1	0	0	T	52450304	C	T	52450304	3	4	22	1	0	0	0	0	1	0	0	0	10680	759	27	1	1043	1	NR4A1	12	52450304	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	421	52450304	81401591	12905	15051											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550082.1_Missense_Mutation_p.P390S|NR4A1_ENST00000394824.2_Missense_Mutation_p.P377S|NR4A1_ENST00000394825.1_Missense_Mutation_p.P377S|NR4A1_ENST00000243050.1_Missense_Mutation_p.P377S|NR4A1_ENST00000360284.3_Missense_Mutation_p.P390S			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													71	409					0	0	1	0	0	T	52450400	C	T	52450400	3	4	22	1	0	0	0	0	1	0	0	0	10680	739	26	2	1139	2	NR4A1	12	52450400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96	52450400	81401495	12906	15052											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	242					0	0	1	0	0	T	52470606	C	T	52470606	4	4	22	1	0	0	0	0	0	1	0	0	1696	711	25	2	295	2	C12orf44	12	52470606	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20206	52470606	81381289	12907	15053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	102					0	0	1	0	0	C	52627084	T	C	52627084	3	2	22	1	0	0	0	0	1	0	0	0	8526	1667	58	3	6	3	KRT7	12	52627084	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	156478	52627084	81224811	12908	15054											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_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													22	95					1.10923e-09	1.16946e-09	1	1	0	T	52685244	G	T	52685244	2	4	22	1	0	0	0	0	0	0	0	1	8538	987	35	2		2	KRT81	12	52685244	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58160	52685244	81166651	12909	15055											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000423955.2_Missense_Mutation_p.T451A|KRT86_ENST00000544024.1_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													38	174					0	0	1	0	0	G	52702259	A	G	52702259	3	3	22	1	0	0	0	0	1	0	0	0	8543	159	6	3	1385	3	KRT86	12	52702259	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17015	52702259	81149636	12910	15056											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	416					6.51614e-51	8.07965e-51	1	1	0	T	52710773	G	T	52710773	3	4	22	1	0	0	0	0	1	0	0	0	8540	1261	44	2	716	2	KRT83	12	52710773	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8514	52710773	81141122	12911	15057											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	470					0	0	1	0	0	T	52715095	C	T	52715095	3	4	22	1	0	0	0	0	1	0	0	0	8540	681	24	2	1492	2	KRT83	12	52715095	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4322	52715095	81136800	12912	15058											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	342					0	0	1	0	0	A	52758891	G	A	52758891	3	1	22	1	0	0	0	0	1	0	0	0	8542	1087	38	1	1071	1	KRT85	12	52758891	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43796	52758891	81093004	12913	15059											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	455					0	0	1	0	0	A	52793859	G	A	52793859	2	1	22	1	0	0	0	0	0	0	0	1	8539	1136	40	1		1	KRT82	12	52793859	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34968	52793859	81058036	12914	15060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	130					0	0	1	0	0	A	52799988	G	A	52799988	3	1	22	1	0	0	0	0	1	0	0	0	8539	1232	43	2	1503	2	KRT82	12	52799988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6129	52799988	81051907	12915	15061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	468					0	0	1	0	0	A	52863465	G	A	52863465	2	1	22	1	0	0	0	0	0	0	0	1	8525	1074	38	1		1	KRT6C	12	52863465	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63477	52863465	80988430	12916	15062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	330					0	0	1	0	0	A	52864412	G	A	52864412	2	1	22	1	0	0	0	0	0	0	0	1	8525	1140	40	1		1	KRT6C	12	52864412	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	947	52864412	80987483	12917	15063											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	270					0	0	1	0	0	A	52886914	G	A	52886914	3	1	22	1	0	0	0	0	1	0	0	0	8523	1203	42	2	1671	2	KRT6A	12	52886914	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22502	52886914	80964981	12918	15064											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	162					0	0	1	0	0	A	52908948	G	A	52908948	2	1	22	1	0	0	0	0	0	0	0	1	8522	1074	38	1		1	KRT5	12	52908948	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22034	52908948	80942947	12919	15065											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													238	385					0	0	1	0	0	A	52913904	G	A	52913904	2	1	22	1	0	0	0	0	0	0	0	1	8522	958	34	2		2	KRT5	12	52913904	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4956	52913904	80937991	12920	15066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	284					1.58986e-06	1.64048e-06	1	1	0	A	52964522	C	A	52964522	3	1	22	1	0	0	0	0	1	0	0	0	8530	680	24	2	670	2	KRT74	12	52964522	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50618	52964522	80887373	12921	15067	98	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	258					0	0	1	0	0	T	52964527	C	T	52964527	3	4	22	1	0	0	0	0	1	0	0	0	8530	768	27	1	675	1	KRT74	12	52964527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	52964527	80887368	12922	15068	98	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	292					0	0	1	0	0	T	53010165	C	T	53010165	5	4	22	1	0	0	0	0	0	0	1	0	8529	695	24	2	1207	2	KRT73	12	53010165	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45638	53010165	80841730	12923	15069											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	555					0	0	1	0	0	A	53040535	G	A	53040535	2	1	22	1	0	0	0	0	0	0	0	1	8500	1074	38	1		1	KRT2	12	53040535	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30370	53040535	80811360	12924	15070											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	250					0	0	1	0	0	A	53042884	G	A	53042884	2	1	22	1	0	0	0	0	0	0	0	1	8500	1136	40	1		1	KRT2	12	53042884	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2349	53042884	80809011	12925	15071											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	325					0	0	1	0	0	T	53043735	C	T	53043735	3	4	22	1	0	0	0	0	1	0	0	0	8500	768	27	1	1123	1	KRT2	12	53043735	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	851	53043735	80808160	12926	15072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													198	845					0	0	1	0	0	G	53044171	T	G	53044171	3	3	22	1	0	0	0	0	1	0	0	0	8500	1493	52	3	1199	3	KRT2	12	53044171	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	436	53044171	80807724	12927	15073											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	98					3.27435e-08	3.41456e-08	1	1	0	T	53045633	G	T	53045633	2	4	22	1	0	0	0	0	0	0	0	1	8500	1074	38	4		4	KRT2	12	53045633	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1462	53045633	80806262	12928	15074											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	125					0	0	1	0	0	G	53045841	A	G	53045841	3	3	22	1	0	0	0	0	1	0	0	0	8500	159	6	3	1869	3	KRT2	12	53045841	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	208	53045841	80806054	12929	15075											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	442					0	0	1	0	0	G	53069496	A	G	53069496	3	3	22	1	0	0	0	0	1	0	0	0	8490	159	6	3	434	3	KRT1	12	53069496	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23655	53069496	80782399	12930	15076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	521					0	0	1	0	0	A	53073598	G	A	53073598	4	1	22	1	0	0	0	0	0	1	0	0	8490	1066	37	1	1435	1	KRT1	12	53073598	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4102	53073598	80778297	12931	15077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	229					0	0	1	0	0	T	53165978	C	T	53165978	3	4	22	1	0	0	0	0	1	0	0	0	8532	768	27	1	899	1	KRT76	12	53165978	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92380	53165978	80685917	12932	15078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	837					0	0	1	0	0	T	53170909	C	T	53170909	3	4	22	1	0	0	0	0	1	0	0	0	8532	768	27	1	1785	1	KRT76	12	53170909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4931	53170909	80680986	12933	15079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	55					0	0	1	0	0	A	53186985	G	A	53186985	3	1	22	1	0	0	0	0	1	0	0	0	8509	1145	40	1	1025	1	KRT3	12	53186985	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16076	53186985	80664910	12934	15080											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	635					1.52808e-22	1.72976e-22	1	1	0	A	53189544	C	A	53189544	3	1	22	1	0	0	0	0	1	0	0	0	8509	681	24	2	1639	2	KRT3	12	53189544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2559	53189544	80662351	12935	15081											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53207653T>A	ENST00000551956.1	-	1	682	c.190A>T	c.(190-192)Agt>Tgt	p.S64C	KRT4_ENST00000458244.2_Intron|KRT4_ENST00000293774.4_Missense_Mutation_p.S138C			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													213	926					0	0	1	0	0	A	53207653	T	A	53207653	3	1	22	1	0	0	0	0	1	0	0	0	8520	1551	54	5	1408	5	KRT4	12	53207653	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18109	53207653	80644242	12936	15082											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53224076C>T	ENST00000330553.5	-	3	733	c.698_splice	c.e3-1	p.K233_splice		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													67	382					0	0	1	0	0	T	53224076	C	T	53224076	5	4	22	1	0	0	0	0	0	0	1	0	8535	521	18	2	936	2	KRT79	12	53224076	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16423	53224076	80627819	12937	15083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	755					0	0	1	0	0	T	53227585	C	T	53227585	3	4	22	1	0	0	0	0	1	0	0	0	8535	768	27	1	1183	1	KRT79	12	53227585	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3509	53227585	80624310	12938	15084											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	EIF4B_ENST00000416762.3_Missense_Mutation_p.G236C|RP11-983P16.4_ENST00000552905.1_RNA|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													24	530					9.90768e-06	1.01656e-05	1	1	0	T	53421816	G	T	53421816	3	4	22	1	0	0	0	0	1	0	0	0	5055	1000	35	2	853	2	EIF4B	12	53421816	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194231	53421816	80430079	12939	15085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	EIF4B_ENST00000416762.3_Missense_Mutation_p.R247H|RP11-983P16.4_ENST00000552905.1_RNA|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													19	446					0	0	1	0	0	A	53421850	G	A	53421850	3	1	22	1	0	0	0	0	1	0	0	0	5055	1087	38	1	887	1	EIF4B	12	53421850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	53421850	80430045	12940	15086											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	EIF4B_ENST00000416762.3_Missense_Mutation_p.P303H|RP11-983P16.4_ENST00000552905.1_RNA|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													45	168					1.46156e-29	1.70844e-29	1	1	0	A	53427635	C	A	53427635	3	1	22	1	0	0	0	0	1	0	0	0	5055	681	24	2	1059	2	EIF4B	12	53427635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5785	53427635	80424260	12941	15087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000546602.1_Silent_p.Q854Q|TENC1_ENST00000379902.3_Silent_p.Q827Q|TENC1_ENST00000314276.3_Silent_p.Q961Q|TENC1_ENST00000451358.1_Silent_p.Q941Q|TENC1_ENST00000552570.1_Silent_p.Q951Q	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													20	172					0	0	1	0	0	A	53454543	G	A	53454543	2	1	22	1	0	0	0	0	0	0	0	1	15817	991	35	2		2	TENC1	12	53454543	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26908	53454543	80397352	12942	15088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000546602.1_Missense_Mutation_p.S1207N|TENC1_ENST00000379902.3_Missense_Mutation_p.S1180N|TENC1_ENST00000314276.3_Missense_Mutation_p.S1314N|TENC1_ENST00000451358.1_Missense_Mutation_p.S1294N|TENC1_ENST00000552570.1_Missense_Mutation_p.S1302N	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													26	302					0	0	1	0	0	A	53456960	G	A	53456960	3	1	22	1	0	0	0	0	1	0	0	0	15817	971	34	2	4122	2	TENC1	12	53456960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2417	53456960	80394935	12943	15089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	335					0	0	1	0	0	A	53497948	G	A	53497948	2	1	22	1	0	0	0	0	0	0	0	1	14965	1074	38	1		1	SOAT2	12	53497948	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40988	53497948	80353947	12944	15090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379846.1_Intron|CSAD_ENST00000444623.1_Missense_Mutation_p.S187L|CSAD_ENST00000542115.1_3'UTR|CSAD_ENST00000453446.2_Missense_Mutation_p.S187L|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													60	256					0	0	1	0	0	A	53565117	G	A	53565117	3	1	22	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	12945	15091											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550743.2_Silent_p.L202L|ITGB7_ENST00000422257.3_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													30	134					0	0	1	0	0	A	53590575	G	A	53590575	2	1	22	1	0	0	0	0	0	0	0	1	7944	962	34	2		2	ITGB7	12	53590575	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25458	53590575	80261320	12946	15092											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000327550.3_Missense_Mutation_p.G219R|RARG_ENST00000543726.1_Missense_Mutation_p.G269R|RARG_ENST00000394426.1_Missense_Mutation_p.G291R|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000338561.5_Missense_Mutation_p.G280R	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)	66	298					0	0	1	0	0	T	53607427	C	T	53607427	3	4	22	1	0	0	0	0	1	0	0	0	13106	652	23	1	505	1	RARG	12	53607427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16852	53607427	80244468	12947	15093											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000327550.3_Nonsense_Mutation_p.Q149*|RARG_ENST00000543726.1_Nonsense_Mutation_p.Q199*|RARG_ENST00000394426.1_Nonsense_Mutation_p.Q221*|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000338561.5_Nonsense_Mutation_p.Q210*	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													91	429					0	0	1	0	0	A	53607995	G	A	53607995	4	1	22	1	0	0	0	0	0	1	0	0	13106	1328	46	2	719	2	RARG	12	53607995	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	568	53607995	80243900	12948	15094											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	499					0	0	1	0	0	A	53675330	G	A	53675330	3	1	22	1	0	0	0	0	1	0	0	0	5281	1058	37	1	2585	1	ESPL1	12	53675330	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67335	53675330	80176565	12949	15095											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													135	601					0	0	1	0	0	T	53680262	C	T	53680262	4	4	22	1	0	0	0	0	0	1	0	0	5281	479	17	2	3808	2	ESPL1	12	53680262	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4932	53680262	80171633	12950	15096											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	633					0	0	1	0	0	T	53708104	C	T	53708104	3	4	22	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	12951	15097											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537210.2_Missense_Mutation_p.P105H|SP7_ENST00000303846.3_Missense_Mutation_p.P123H	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													57	254					5.82388e-19	6.47979e-19	1	1	0	T	53722858	G	T	53722858	3	4	22	1	0	0	0	0	1	0	0	0	15023	1232	43	2	931	2	SP7	12	53722858	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14754	53722858	80129037	12952	15098											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	370					1.41595e-48	1.74838e-48	1	1	0	A	53776411	C	A	53776411	3	1	22	1	0	0	0	0	1	0	0	0	15013	797	28	2	690	2	SP1	12	53776411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53553	53776411	80075484	12953	15099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550311.1_Silent_p.I145I|AMHR2_ENST00000379791.3_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													13	438					0.000151284	0.000153739	1	1	0	A	53818959	C	A	53818959	2	1	22	1	0	0	0	0	0	0	0	1	569	903	32	2		2	AMHR2	12	53818959	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42548	53818959	80032936	12954	15100											
AMHR2	269	broad.mit.edu	37	chr12	53819644	53819645	+	Frame_Shift_Ins	INS	-	-	G													ccgatttatcactgccagccINSgggggggtcctggccgcctg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53819644_53819645insG	ENST00000257863.4	+	6	873_874	c.793_794insG	c.(793-795)gggfs	p.G265fs	AMHR2_ENST00000550311.1_Frame_Shift_Ins_p.G265fs|AMHR2_ENST00000379791.3_Frame_Shift_Ins_p.G265fs	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	265	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	p.R265W(1)		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)	CACTGCCAGCCGGGGGGGTCCT	0.579													53	287	---	---	---	---						G	53819645	-	G	53819644	7	5	22	1	0	1	1	0	0	0	0	0	569	643	23	0	815	0	AMHR2	12	53819644	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	685	53819644	80032251	12955	15101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550311.1_Missense_Mutation_p.R428K|AMHR2_ENST00000379791.3_Intron	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													131	531					0	0	1	0	0	A	53823757	G	A	53823757	3	1	22	1	0	0	0	0	1	0	0	0	569	1000	35	2	1317	2	AMHR2	12	53823757	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4113	53823757	80028138	12956	15102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550311.1_Silent_p.L447L|AMHR2_ENST00000379791.3_Intron	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													284	1052					0	0	1	0	0	T	53823984	C	T	53823984	3	4	22	1	0	0	0	0	1	0	0	0	569	681	24	2	1381	2	AMHR2	12	53823984	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227	53823984	80027911	12957	15103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550311.1_3'UTR|AMHR2_ENST00000379791.3_Missense_Mutation_p.L447H	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													97	383					0	0	1	0	0	A	53825160	T	A	53825160	3	1	22	1	0	0	0	0	1	0	0	0	569	1551	54	5	1667	5	AMHR2	12	53825160	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1176	53825160	80026735	12958	15104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000552819.1_Missense_Mutation_p.G233E|PCBP2_ENST00000455667.3_Missense_Mutation_p.G229E|PCBP2_ENST00000548933.1_Missense_Mutation_p.G233E|PCBP2_ENST00000549863.1_Missense_Mutation_p.G219E|PCBP2_ENST00000439930.3_Missense_Mutation_p.G264E|PCBP2_ENST00000552296.2_Missense_Mutation_p.G260E|PCBP2_ENST00000546463.1_Missense_Mutation_p.G260E|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000437231.1_Missense_Mutation_p.G229E|PCBP2_ENST00000359282.5_Missense_Mutation_p.G229E|PCBP2_ENST00000447282.1_Missense_Mutation_p.G233E|PCBP2_ENST00000359462.5_Missense_Mutation_p.G264E|PCBP2_ENST00000541275.1_Missense_Mutation_p.G260E	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													77	329					0	0	1	0	0	A	53861069	G	A	53861069	3	1	22	1	0	0	0	0	1	0	0	0	11548	1174	41	2	829	2	PCBP2	12	53861069	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35909	53861069	79990826	12959	15105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000552819.1_Silent_p.*323*|PCBP2_ENST00000455667.3_Silent_p.*319*|PCBP2_ENST00000548933.1_Silent_p.*336*|PCBP2_ENST00000549863.1_Silent_p.*322*|PCBP2_ENST00000439930.3_Silent_p.*366*|PCBP2_ENST00000552296.2_Silent_p.*362*|PCBP2_ENST00000546463.1_Silent_p.*363*|PCBP2_ENST00000437231.1_Silent_p.*319*|PCBP2_ENST00000359282.5_Silent_p.*332*|PCBP2_ENST00000447282.1_Silent_p.*336*|PCBP2_ENST00000359462.5_Silent_p.*367*	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													40	137					0	0	1	0	0	A	53873226	G	A	53873226	2	1	22	1	0	0	0	0	0	0	0	1	11548	937	33	2		2	PCBP2	12	53873226	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12157	53873226	79978669	12960	15106											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	1169					1.26612e-14	1.37737e-14	1	1	0	A	53879181	C	A	53879181	3	1	22	1	0	0	0	0	1	0	0	0	9296	912	32	2	1818	2	MAP3K12	12	53879181	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5955	53879181	79972714	12961	15107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R129C	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													76	349					0	0	1	0	0	A	53880791	G	A	53880791	3	1	22	1	0	0	0	0	1	0	0	0	9296	1087	38	1	2345	1	MAP3K12	12	53880791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1610	53880791	79971104	12962	15108											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000547151.1_Intron|MAP3K12_ENST00000267079.2_Intron|MAP3K12_ENST00000547488.1_Missense_Mutation_p.A77V			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													69	294					0	0	1	0	0	A	53880946	G	A	53880946	3	1	22	1	0	0	0	0	1	0	0	0	9296	1218	42	2		2	MAP3K12	12	53880946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155	53880946	79970949	12963	15109											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394357.2_Missense_Mutation_p.R168H|TARBP2_ENST00000552857.1_Missense_Mutation_p.R98H	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													74	294					0	0	1	0	0	A	53898552	G	A	53898552	3	1	22	1	0	0	0	0	1	0	0	0	15613	1087	38	1	588	1	TARBP2	12	53898552	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17606	53898552	79953343	12964	15110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394357.2_Silent_p.E324E|TARBP2_ENST00000552857.1_3'UTR	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													49	246					0	0	1	0	0	A	53899866	G	A	53899866	2	1	22	1	0	0	0	0	0	0	0	1	15613	991	35	2		2	TARBP2	12	53899866	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1314	53899866	79952029	12965	15111											
NPFF	8620	broad.mit.edu	37	chr12	53901208	53901208	+	Silent	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53901208G>A	ENST00000267017.3	-	1	214	c.51C>T	c.(49-51)gaC>gaT	p.D17D	RP11-793H13.10_ENST00000591834.1_Intron	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor	17					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													70	294					0	0	1	0	0	A	53901208	G	A	53901208	2	1	22	1	0	0	0	0	0	0	0	1	10623	1136	40	1		1	NPFF	12	53901208	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1342	53901208	79950687	12966	15112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								23	91					0	0	1	0	0	T	54333171	C	T	54333171	3	4	22	1	0	0	0	0	1	0	0	0	7353	739	26	2	483	2	HOXC13	12	54333171	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	431963	54333171	79518724	12967	15113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	HOTAIR_ENST00000424518.1_RNA|HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.A135T			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								51	1389					0	0	1	0	0	A	54367428	G	A	54367428	3	1	22	1	0	0	0	0	1	0	0	0	7351	1087	38	1	405	1	HOXC11	12	54367428	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34257	54367428	79484467	12968	15114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504557.1_Intron|HOXC9_ENST00000508190.1_Missense_Mutation_p.P57L	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													52	273					0	0	1	0	0	T	54394142	C	T	54394142	3	4	22	1	0	0	0	0	1	0	0	0	7358	623	22	2	172	2	HOXC9	12	54394142	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26714	54394142	79457753	12969	15115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	HOXC5_ENST00000512206.1_Intron|HOXC4_ENST00000303406.4_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)	19	329					0	0	1	0	0	G	54426931	T	G	54426931	3	3	22	1	0	0	0	0	1	0	0	0	7355	1493	52	3	27	3	HOXC5	12	54426931	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32789	54426931	79424964	12970	15116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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													27	102					0	0	1	0	0	A	54448914	G	A	54448914	2	1	22	1	0	0	0	0	0	0	0	1	7354	1103	39	1		1	HOXC4	12	54448914	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21983	54448914	79402981	12971	15117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000506595.1_Intron|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000337581.3_Missense_Mutation_p.R243C|SMUG1_ENST00000401977.2_Missense_Mutation_p.R243C|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000505128.1_3'UTR	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					86	466					0	0	1	0	0	A	54575966	G	A	54575966	3	1	22	1	0	0	0	0	1	0	0	0	14872	1116	39	1	89	1	SMUG1	12	54575966	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127052	54575966	79275929	12972	15118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000312156.4_Silent_p.A133A|NFE2_ENST00000435572.2_Silent_p.A133A|NFE2_ENST00000553070.1_Silent_p.A133A|RP11-968A15.8_ENST00000553061.1_RNA			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													126	609					0	0	1	0	0	C	54686881	T	C	54686881	2	2	22	1	0	0	0	0	0	0	0	1	10413	1567	55	3		3	NFE2	12	54686881	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	110915	54686881	79165014	12973	15119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_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													81	815					0	0	1	0	0	A	54795226	G	A	54795226	2	1	22	1	0	0	0	0	0	0	0	1	7923	1078	38	1		1	ITGA5	12	54795226	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108345	54795226	79056669	12974	15120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_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													166	780					2.0813e-75	2.65401e-75	1	1	0	T	54797065	G	T	54797065	3	4	22	1	0	0	0	0	1	0	0	0	7923	971	34	2	1381	2	ITGA5	12	54797065	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1839	54797065	79054830	12975	15121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_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													62	220					0	0	1	0	0	A	54802689	G	A	54802689	2	1	22	1	0	0	0	0	0	0	0	1	7923	1103	39	1		1	ITGA5	12	54802689	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5624	54802689	79049206	12976	15122											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	356					0	0	1	0	0	G	54905762	A	G	54905762	3	3	22	1	0	0	0	0	1	0	0	0	10269	130	5	3	848	3	NCKAP1L	12	54905762	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	103073	54905762	78946133	12977	15123											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	230					0	0	1	0	0	A	54920455	G	A	54920455	3	1	22	1	0	0	0	0	1	0	0	0	10269	1087	38	1	2382	1	NCKAP1L	12	54920455	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14693	54920455	78931440	12978	15124											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.R392H|PPP1R1A_ENST00000547431.1_3'UTR	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													84	436					0	0	1	0	0	A	54969384	G	A	54969384	3	1	22	1	0	0	0	0	1	0	0	0	11681	1087	38	1	1334	1	PDE1B	12	54969384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48929	54969384	78882511	12979	15125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	321					8.77104e-35	1.04431e-34	1	1	0	T	55028594	G	T	55028594	3	4	22	1	0	0	0	0	1	0	0	0	8635	971	34	2	404	2	LACRT	12	55028594	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59210	55028594	78823301	12980	15126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													132	521					0	0	1	0	0	T	55524378	C	T	55524378	2	4	22	1	0	0	0	0	0	0	0	1	11301	796	28	2		2	OR9K2	12	55524378	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	495784	55524378	78327517	12981	15127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	386					0	0	1	0	0	G	55641685	T	G	55641685	3	3	22	1	0	0	0	0	1	0	0	0	11245	1551	54	3	616	3	OR6C74	12	55641685	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	117307	55641685	78210210	12982	15128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	214					0	0	1	0	0	G	55714983	T	G	55714983	3	3	22	1	0	0	0	0	1	0	0	0	11237	1702	59	3	602	3	OR6C1	12	55714983	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	73298	55714983	78136912	12983	15129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													141	596					0	0	1	0	0	C	55725792	T	C	55725792	3	2	22	1	0	0	0	0	1	0	0	0	11239	1783	62	3	310	3	OR6C3	12	55725792	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10809	55725792	78126103	12984	15130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_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													75	370					1.08321e-29	1.26665e-29	1	1	0	T	55863420	G	T	55863420	3	4	22	1	0	0	0	0	1	0	0	0	11244	971	34	2	437	2	OR6C70	12	55863420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137628	55863420	77988475	12985	15131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													135	573					4.9668e-63	6.26529e-63	1	1	0	A	56031342	C	A	56031342	3	1	22	1	0	0	0	0	1	0	0	0	10963	680	24	2	669	2	OR10P1	12	56031342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167922	56031342	77820553	12986	15132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	140					1.22384e-17	1.35282e-17	1	1	0	A	56075767	C	A	56075767	3	1	22	1	0	0	0	0	1	0	0	0	9556	796	28	2	231	2	METTL7B	12	56075767	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44425	56075767	77776128	12987	15133											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000257879.6_Missense_Mutation_p.A466T|ITGA7_ENST00000394230.2_Missense_Mutation_p.A470T|ITGA7_ENST00000394229.2_Missense_Mutation_p.A466T|ITGA7_ENST00000452168.2_Missense_Mutation_p.A373T|ITGA7_ENST00000553804.1_Missense_Mutation_p.A470T|ITGA7_ENST00000347027.6_Missense_Mutation_p.A466T|ITGA7_ENST00000555728.1_Missense_Mutation_p.A510T			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													14	418					0	0	1	0	0	T	56091492	C	T	56091492	3	4	22	1	0	0	0	0	1	0	0	0	7925	768	27	1	2085	1	ITGA7	12	56091492	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15725	56091492	77760403	12988	15134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000257879.6_Missense_Mutation_p.Y356H|ITGA7_ENST00000394230.2_Missense_Mutation_p.Y360H|ITGA7_ENST00000394229.2_Missense_Mutation_p.Y356H|ITGA7_ENST00000452168.2_Missense_Mutation_p.Y263H|ITGA7_ENST00000553804.1_Missense_Mutation_p.Y360H|ITGA7_ENST00000347027.6_Missense_Mutation_p.Y356H|ITGA7_ENST00000555728.1_Missense_Mutation_p.Y400H			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													82	382					0	0	1	0	0	G	56092293	A	G	56092293	3	3	22	1	0	0	0	0	1	0	0	0	7925	391	14	3	2423	3	ITGA7	12	56092293	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	801	56092293	77759602	12989	15135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000257879.6_Missense_Mutation_p.G319S|ITGA7_ENST00000394230.2_Missense_Mutation_p.G323S|ITGA7_ENST00000394229.2_Missense_Mutation_p.G319S|ITGA7_ENST00000452168.2_Missense_Mutation_p.G226S|ITGA7_ENST00000553804.1_Missense_Mutation_p.G323S|ITGA7_ENST00000347027.6_Missense_Mutation_p.G319S|ITGA7_ENST00000555728.1_Missense_Mutation_p.G363S			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													51	279					0	0	1	0	0	T	56092537	C	T	56092537	3	4	22	1	0	0	0	0	1	0	0	0	7925	652	23	1	2538	1	ITGA7	12	56092537	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244	56092537	77759358	12990	15136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000257879.6_Missense_Mutation_p.R157Q|ITGA7_ENST00000394230.2_Missense_Mutation_p.R157Q|ITGA7_ENST00000394229.2_Missense_Mutation_p.R157Q|ITGA7_ENST00000452168.2_Missense_Mutation_p.R60Q|ITGA7_ENST00000553804.1_Missense_Mutation_p.R157Q|ITGA7_ENST00000347027.6_Missense_Mutation_p.R157Q|ITGA7_ENST00000555728.1_Missense_Mutation_p.R157Q			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													9	376					0	0	1	0	0	T	56094883	C	T	56094883	3	4	22	1	0	0	0	0	1	0	0	0	7925	652	23	1	3167	1	ITGA7	12	56094883	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2346	56094883	77757012	12991	15137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP11-644F5.10_ENST00000550412.1_Intron|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			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													48	186					9.58827e-17	1.05493e-16	1	1	0	A	56113380	C	A	56113380	3	1	22	1	0	0	0	0	1	0	0	0	1447	913	32	2	379	2	BLOC1S1	12	56113380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18497	56113380	77738515	12992	15138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000552692.1_Missense_Mutation_p.P54S|CD63_ENST00000552754.1_Missense_Mutation_p.P31S|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000420846.3_Missense_Mutation_p.P54S|CD63_ENST00000550776.1_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													150	605					0	0	1	0	0	A	56121030	G	A	56121030	3	1	22	1	0	0	0	0	1	0	0	0	3051	1203	42	2	580	2	CD63	12	56121030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7650	56121030	77730865	12993	15139											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550836.1_Intron|ORMDL2_ENST00000552672.1_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													37	196					0	0	1	0	0	T	56212807	C	T	56212807	2	4	22	1	0	0	0	0	0	0	0	1	11317	767	27	1		1	ORMDL2	12	56212807	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91777	56212807	77639088	12994	15140											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	737					2.65835e-16	2.91905e-16	1	1	0	T	56333198	G	T	56333198	5	4	22	1	0	0	0	0	0	0	1	0	4493	956	33	2	624	2	DGKA	12	56333198	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120391	56333198	77518697	12995	15141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	306					0	0	1	0	0	G	56398461	A	G	56398461	3	3	22	1	0	0	0	0	1	0	0	0	15451	159	6	3	1298	3	SUOX	12	56398461	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65263	56398461	77453434	12996	15142											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431367.2_Nonsense_Mutation_p.E395*|IKZF4_ENST00000547167.1_Nonsense_Mutation_p.E497*|IKZF4_ENST00000547791.1_Nonsense_Mutation_p.E452*|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													74	284					1.26778e-28	1.47706e-28	1	1	0	T	56428846	G	T	56428846	4	4	22	1	0	0	0	0	0	1	0	0	7661	943	33	2	1519	2	IKZF4	12	56428846	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30385	56428846	77423049	12997	15143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415288.2_Intron|ERBB3_ENST00000267101.3_Intron|ERBB3_ENST00000450146.2_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													17	344					1.5739e-10	1.67034e-10	1	1	0	T	56479013	G	T	56479013	3	4	22	1	0	0	0	0	1	0	0	0	5236	942	33	2	479	2	ERBB3	12	56479013	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50167	56479013	77372882	12998	15144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415288.2_Missense_Mutation_p.R624W|ERBB3_ENST00000450146.2_Missense_Mutation_p.R40W	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													93	474					0	0	1	0	0	T	56489582	C	T	56489582	3	4	22	1	0	0	0	0	1	0	0	0	5236	527	19	1	2244	1	ERBB3	12	56489582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10569	56489582	77362313	12999	15145											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553131.1_Missense_Mutation_p.D163Y|ERBB3_ENST00000549832.1_Missense_Mutation_p.D42Y|ERBB3_ENST00000415288.2_Missense_Mutation_p.D863Y|ERBB3_ENST00000450146.2_Missense_Mutation_p.D279Y	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													84	388					7.7321e-48	9.52824e-48	1	1	0	T	56492614	G	T	56492614	3	4	22	1	0	0	0	0	1	0	0	0	5236	942	33	2	2985	2	ERBB3	12	56492614	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3032	56492614	77359281	13000	15146											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	328					1.43987e-31	1.69592e-31	1	1	0	A	56505030	C	A	56505030	2	1	22	1	0	0	0	0	0	0	0	1	11408	581	21	2		2	PA2G4	12	56505030	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12416	56505030	77346865	13001	15147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	492					0	0	1	0	0	T	56514521	C	T	56514521	3	4	22	1	0	0	0	0	1	0	0	0	17618	884	31	1	177	1	ZC3H10	12	56514521	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9491	56514521	77337374	13002	15148											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	192					9.65021e-13	1.03847e-12	1	1	0	A	56515509	C	A	56515509	3	1	22	1	0	0	0	0	1	0	0	0	17618	797	28	2	1165	2	ZC3H10	12	56515509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	988	56515509	77336386	13003	15149											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550878.1_Intron|ESYT1_ENST00000267113.4_Missense_Mutation_p.G884S|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													30	717					0	0	1	0	0	A	56536096	G	A	56536096	3	1	22	1	0	0	0	0	1	0	0	0	5292	1232	43	2	2748	2	ESYT1	12	56536096	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20587	56536096	77315799	13004	15150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348108.4_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000549566.1_Missense_Mutation_p.W68C|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000293422.5_Intron|RP11-603J24.18_ENST00000548571.1_RNA|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000548580.1_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)			AGAGTTTGTGGGTCAGAGTTT	0.567													126	553					9.82526e-55	1.22692e-54	1	1	0	T	56552389	G	T	56552389	3	4	22	1	0	0	0	0	1	0	0	0	10099	1247	43	2		2	MYL6	12	56552389	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16293	56552389	77299506	13005	15151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1205A|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													109	382					0	0	1	0	0	G	56558134	A	G	56558134	3	3	22	1	0	0	0	0	1	0	0	0	14830	159	6	3	131	3	SMARCC2	12	56558134	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5745	56558134	77293761	13006	15152											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394023.3_Intron|SMARCC2_ENST00000347471.4_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													127	505					0	0	1	0	0	A	56558242	G	A	56558242	3	1	22	1	0	0	0	0	1	0	0	0	14830	1174	41	2	239	2	SMARCC2	12	56558242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108	56558242	77293653	13007	15153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E744D|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													78	304					1.30681e-28	1.52204e-28	1	1	0	A	56565170	C	A	56565170	3	1	22	1	0	0	0	0	1	0	0	0	14830	680	24	2	1537	2	SMARCC2	12	56565170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6928	56565170	77286725	13008	15154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	112					0	0	1	0	0	T	56639194	C	T	56639194	3	4	22	1	0	0	0	0	1	0	0	0	672	661	23	1	891	1	ANKRD52	12	56639194	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74024	56639194	77212701	13009	15155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	140					0	0	1	0	0	A	56641840	G	A	56641840	3	1	22	1	0	0	0	0	1	0	0	0	672	1087	38	1	1329	1	ANKRD52	12	56641840	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2646	56641840	77210055	13010	15156											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	292					0	0	1	0	0	A	56647086	G	A	56647086	2	1	22	1	0	0	0	0	0	0	0	1	672	1074	38	1		1	ANKRD52	12	56647086	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5246	56647086	77204809	13011	15157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	508					0	0	1	0	0	A	56647941	G	A	56647941	2	1	22	1	0	0	0	0	0	0	0	1	672	958	34	2		2	ANKRD52	12	56647941	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	855	56647941	77203954	13012	15158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56651145C>A	ENST00000267116.7	-	3	233	c.111_splice	c.e3-1	p.D38_splice		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													8	42					7.48243e-07	7.73841e-07	1	1	0	A	56651145	C	A	56651145	5	1	22	1	0	0	0	0	0	0	1	0	672	869	30	2	3222	2	ANKRD52	12	56651145	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3204	56651145	77200750	13013	15159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000548043.1_Missense_Mutation_p.D1178Y|PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000257931.5_Missense_Mutation_p.D1177Y|PAN2_ENST00000440411.3_Missense_Mutation_p.D1174Y	NM_001127460.2	NP_001120932.1	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													103	571					9.53958e-58	1.19509e-57	1	1	0	A	56712063	C	A	56712063	3	1	22	1	0	0	0	0	1	0	0	0	11461	855	30	2	84	2	PAN2	12	56712063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60918	56712063	77139832	13014	15160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000548043.1_Missense_Mutation_p.A104S|PAN2_ENST00000257931.5_Missense_Mutation_p.A104S|PAN2_ENST00000440411.3_Missense_Mutation_p.A104S	NM_001127460.2	NP_001120932.1	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													45	198					1.03325e-14	1.12462e-14	1	1	0	A	56722398	C	A	56722398	3	1	22	1	0	0	0	0	1	0	0	0	11461	797	28	2	3394	2	PAN2	12	56722398	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10335	56722398	77129497	13015	15161											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557235.1_Missense_Mutation_p.A2V|STAT2_ENST00000418572.2_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													55	252					0	0	1	0	0	A	56750351	G	A	56750351	3	1	22	1	0	0	0	0	1	0	0	0	15321	1087	38	1	2642	1	STAT2	12	56750351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27953	56750351	77101544	13016	15162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	327					0	0	1	0	0	A	56755257	G	A	56755257	3	1	22	1	0	0	0	0	1	0	0	0	800	1029	36	2	251	2	APOF	12	56755257	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4906	56755257	77096638	13017	15163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													208	1008					0	0	1	0	0	T	56811983	C	T	56811983	3	4	22	1	0	0	0	0	1	0	0	0	15964	884	31	1	249	1	TIMELESS	12	56811983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56726	56811983	77039912	13018	15164											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	253					1.27334e-21	1.43616e-21	1	1	0	A	56827200	C	A	56827200	3	1	22	1	0	0	0	0	1	0	0	0	15964	565	20	2	3332	2	TIMELESS	12	56827200	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15217	56827200	77024695	13019	15165											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	391					0	0	1	0	0	T	56848296	C	T	56848296	4	4	22	1	0	0	0	0	0	1	0	0	9639	624	22	2	705	2	MIP	12	56848296	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21096	56848296	77003599	13020	15166											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	357					0	0	1	0	0	A	56866494	G	A	56866494	2	1	22	1	0	0	0	0	0	0	0	1	6506	1074	38	1		1	GLS2	12	56866494	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18198	56866494	76985401	13021	15167											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000549884.1_Missense_Mutation_p.R669W|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R641W|BAZ2A_ENST00000551812.1_Missense_Mutation_p.R671W			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													7	149					0	0	1	0	0	A	57003607	G	A	57003607	3	1	22	1	0	0	0	0	1	0	0	0	1329	1144	40	1	3786	1	BAZ2A	12	57003607	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137113	57003607	76848288	13022	15168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000549884.1_Missense_Mutation_p.A454T|BAZ2A_ENST00000379441.3_Missense_Mutation_p.A426T|BAZ2A_ENST00000551812.1_Missense_Mutation_p.A456T			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													19	102					0	0	1	0	0	T	57005806	C	T	57005806	3	4	22	1	0	0	0	0	1	0	0	0	1329	768	27	1	4447	1	BAZ2A	12	57005806	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2199	57005806	76846089	13023	15169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													130	581					0	0	1	0	0	C	57032949	T	C	57032949	3	2	22	1	0	0	0	0	1	0	0	0	1147	1464	51	3	167	3	ATP5B	12	57032949	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27143	57032949	76818946	13024	15170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S646Y|NACA_ENST00000551793.1_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								13	137					1.5842e-08	1.65642e-08	1	1	0	T	57109918	G	T	57109918	3	4	22	1	0	0	0	0	1	0	0	0	10181	942	33	2	868	2	NACA	12	57109918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76969	57109918	76741977	13025	15171											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_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								84	309					1.13027e-35	1.35034e-35	1	1	0	A	57110723	C	A	57110723	3	1	22	1	0	0	0	0	1	0	0	0	10181	797	28	2	1673	2	NACA	12	57110723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	805	57110723	76741172	13026	15172											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_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								132	549					0	0	1	0	0	A	57111655	G	A	57111655	3	1	22	1	0	0	0	0	1	0	0	0	10181	1261	44	2	2605	2	NACA	12	57111655	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	932	57111655	76740240	13027	15173											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S570P|NACA_ENST00000551793.1_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								48	162					0	0	1	0	0	G	57113606	A	G	57113606	3	3	22	1	0	0	0	0	1	0	0	0	10181	246	9	3	4556	3	NACA	12	57113606	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1951	57113606	76738289	13028	15174											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S304Y|NACA_ENST00000551793.1_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								46	219					2.40228e-13	2.59309e-13	1	1	0	T	57114403	G	T	57114403	3	4	22	1	0	0	0	0	1	0	0	0	10181	942	33	2	5353	2	NACA	12	57114403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	797	57114403	76737492	13029	15175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S50Y|NACA_ENST00000551793.1_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								12	156					0.00010058	0.000102273	1	1	0	T	57115165	G	T	57115165	3	4	22	1	0	0	0	0	1	0	0	0	10181	942	33	2	6115	2	NACA	12	57115165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	762	57115165	76736730	13030	15176											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000555159.1_Silent_p.G36G|HSD17B6_ENST00000555805.1_Silent_p.G36G|HSD17B6_ENST00000322165.1_Silent_p.G36G|HSD17B6_ENST00000554150.1_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													14	372					0	0	1	0	0	T	57167744	C	T	57167744	2	4	22	1	0	0	0	0	0	0	0	1	7428	784	28	2		2	HSD17B6	12	57167744	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52579	57167744	76684151	13031	15177											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	223					0	0	1	0	0	T	57345960	C	T	57345960	2	4	22	1	0	0	0	0	0	0	0	1	13246	796	28	2		2	RDH16	12	57345960	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178216	57345960	76505935	13032	15178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	369					0	0	1	0	0	T	57351092	C	T	57351092	3	4	22	1	0	0	0	0	1	0	0	0	13246	884	31	1	814	1	RDH16	12	57351092	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5132	57351092	76500803	13033	15179											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													145	607					1.02459e-47	1.26223e-47	1	1	0	A	57389159	C	A	57389159	3	1	22	1	0	0	0	0	1	0	0	0	6717	681	24	2	168	2	GPR182	12	57389159	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38067	57389159	76462736	13034	15180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	341					3.32936e-07	3.45006e-07	1	1	0	T	57389519	G	T	57389519	3	4	22	1	0	0	0	0	1	0	0	0	6717	1000	35	2	528	2	GPR182	12	57389519	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	360	57389519	76462376	13035	15181											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	1102					0	0	1	0	0	T	57389924	C	T	57389924	2	4	22	1	0	0	0	0	0	0	0	1	6717	796	28	2		2	GPR182	12	57389924	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	405	57389924	76461971	13036	15182											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	293					9.61844e-40	1.16381e-39	1	1	0	T	57396934	G	T	57396934	3	4	22	1	0	0	0	0	1	0	0	0	17599	933	33	2	374	2	ZBTB39	12	57396934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7010	57396934	76454961	13037	15183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	255					0	0	1	0	0	T	57397488	C	T	57397488	3	4	22	1	0	0	0	0	1	0	0	0	17599	478	17	2	928	2	ZBTB39	12	57397488	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	554	57397488	76454407	13038	15184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	879					3.16549e-35	3.77663e-35	1	1	0	A	57397725	C	A	57397725	3	1	22	1	0	0	0	0	1	0	0	0	17599	565	20	2	1165	2	ZBTB39	12	57397725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	237	57397725	76454170	13039	15185											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000300119.3_Nonsense_Mutation_p.R639*|MYO1A_ENST00000544473.1_Nonsense_Mutation_p.R477*	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													42	197					0	0	1	0	0	A	57431699	G	A	57431699	4	1	22	1	0	0	0	0	0	1	0	0	10116	1124	39	1	1260	1	MYO1A	12	57431699	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33974	57431699	76420196	13040	15186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000476795.1_5'UTR|MYO1A_ENST00000300119.3_Missense_Mutation_p.A509V|MYO1A_ENST00000544473.1_Missense_Mutation_p.A347V	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													40	194					0	0	1	0	0	A	57432600	G	A	57432600	3	1	22	1	0	0	0	0	1	0	0	0	10116	1087	38	1	1657	1	MYO1A	12	57432600	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	901	57432600	76419295	13041	15187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	143					4.18559e-23	4.75231e-23	1	1	0	A	57453749	C	A	57453749	3	1	22	1	0	0	0	0	1	0	0	0	16176	680	24	2	90	2	TMEM194A	12	57453749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21149	57453749	76398146	13042	15188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	60					0	0	1	0	0	A	57487215	G	A	57487215	2	1	22	1	0	0	0	0	0	0	0	1	10180	1074	38	1		1	NAB2	12	57487215	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33466	57487215	76364680	13043	15189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537215.2_Missense_Mutation_p.V557M|STAT6_ENST00000556155.1_Missense_Mutation_p.V667M|STAT6_ENST00000454075.3_Missense_Mutation_p.V667M|STAT6_ENST00000538913.2_Missense_Mutation_p.V557M|STAT6_ENST00000543873.2_Missense_Mutation_p.V667M	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													11	398					0	0	1	0	0	T	57492642	C	T	57492642	3	4	22	1	0	0	0	0	1	0	0	0	15326	507	18	2	564	2	STAT6	12	57492642	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5427	57492642	76359253	13044	15190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537215.2_Missense_Mutation_p.R516Q|STAT6_ENST00000556155.1_Missense_Mutation_p.R626Q|STAT6_ENST00000454075.3_Missense_Mutation_p.R626Q|STAT6_ENST00000538913.2_Missense_Mutation_p.R516Q|STAT6_ENST00000543873.2_Missense_Mutation_p.R626Q	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													115	420					0	0	1	0	0	T	57493091	C	T	57493091	3	4	22	1	0	0	0	0	1	0	0	0	15326	652	23	1	694	1	STAT6	12	57493091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	449	57493091	76358804	13045	15191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537215.2_Missense_Mutation_p.A181V|STAT6_ENST00000556155.1_Missense_Mutation_p.A291V|STAT6_ENST00000454075.3_Missense_Mutation_p.A291V|STAT6_ENST00000538913.2_Missense_Mutation_p.A181V|STAT6_ENST00000543873.2_Missense_Mutation_p.A291V	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													11	400					0	0	1	0	0	A	57499063	G	A	57499063	3	1	22	1	0	0	0	0	1	0	0	0	15326	971	34	2	1727	2	STAT6	12	57499063	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5972	57499063	76352832	13046	15192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537215.2_Silent_p.S146S|STAT6_ENST00000556155.1_Silent_p.S256S|STAT6_ENST00000454075.3_Silent_p.S256S|STAT6_ENST00000538913.2_Silent_p.S146S|STAT6_ENST00000543873.2_Silent_p.S256S	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													38	164					0	0	1	0	0	T	57499295	C	T	57499295	2	4	22	1	0	0	0	0	0	0	0	1	15326	755	27	1		1	STAT6	12	57499295	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	232	57499295	76352600	13047	15193	99	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537215.2_Missense_Mutation_p.R144W|STAT6_ENST00000556155.1_Missense_Mutation_p.R254W|STAT6_ENST00000454075.3_Missense_Mutation_p.R254W|STAT6_ENST00000538913.2_Missense_Mutation_p.R144W|STAT6_ENST00000543873.2_Missense_Mutation_p.R254W	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													33	153					0	0	1	0	0	A	57499303	G	A	57499303	3	1	22	1	0	0	0	0	1	0	0	0	15326	1115	39	1	1843	1	STAT6	12	57499303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	57499303	76352592	13048	15194	99	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	LRP1_ENST00000338962.4_Missense_Mutation_p.S226I|RP11-545N8.3_ENST00000555461.1_RNA|LRP1_ENST00000554174.1_Missense_Mutation_p.S226I|LRP1_ENST00000553277.1_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													30	178					2.12542e-12	2.28249e-12	1	1	0	T	57539109	G	T	57539109	3	4	22	1	0	0	0	0	1	0	0	0	8996	971	34	2	699	2	LRP1	12	57539109	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39806	57539109	76312786	13049	15195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57559588C>T	ENST00000243077.3	+	16	2997	c.2530_splice	c.e16-1	p.A844_splice		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													67	320					0	0	1	0	0	T	57559588	C	T	57559588	5	4	22	1	0	0	0	0	0	0	1	0	8996	782	27	1	2593	1	LRP1	12	57559588	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20479	57559588	76292307	13050	15196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	132					0	0	1	0	0	T	57577289	C	T	57577289	2	4	22	1	0	0	0	0	0	0	0	1	8996	535	19	1		1	LRP1	12	57577289	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17701	57577289	76274606	13051	15197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	170					3.33393e-15	3.63836e-15	1	1	0	A	57577893	C	A	57577893	2	1	22	1	0	0	0	0	0	0	0	1	8996	784	28	2		2	LRP1	12	57577893	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	604	57577893	76274002	13052	15198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	411					0	0	1	0	0	A	57578941	G	A	57578941	3	1	22	1	0	0	0	0	1	0	0	0	8996	1203	42	2	6574	2	LRP1	12	57578941	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1048	57578941	76272954	13053	15199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	338					0	0	1	0	0	T	57587035	C	T	57587035	2	4	22	1	0	0	0	0	0	0	0	1	8996	776	27	1		1	LRP1	12	57587035	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8094	57587035	76264860	13054	15200											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	163					0	0	1	0	0	T	57587393	C	T	57587393	3	4	22	1	0	0	0	0	1	0	0	0	8996	768	27	1	7915	1	LRP1	12	57587393	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	358	57587393	76264502	13055	15201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	247					0	0	1	0	0	T	57587714	C	T	57587714	3	4	22	1	0	0	0	0	1	0	0	0	8996	643	23	1	8027	1	LRP1	12	57587714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	321	57587714	76264181	13056	15202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	851					0	0	1	0	0	T	57588276	C	T	57588276	2	4	22	1	0	0	0	0	0	0	0	1	8996	755	27	1		1	LRP1	12	57588276	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	562	57588276	76263619	13057	15203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	234					0	0	1	0	0	T	57590814	C	T	57590814	3	4	22	1	0	0	0	0	1	0	0	0	8996	797	28	2	9164	2	LRP1	12	57590814	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2538	57590814	76261081	13058	15204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	618					0	0	1	0	0	T	57598459	C	T	57598459	2	4	22	1	0	0	0	0	0	0	0	1	8996	755	27	1		1	LRP1	12	57598459	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7645	57598459	76253436	13059	15205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	313					0	0	1	0	0	A	57606279	G	A	57606279	3	1	22	1	0	0	0	0	1	0	0	0	8996	1059	37	1	13930	1	LRP1	12	57606279	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7820	57606279	76245616	13060	15206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557487.1_Missense_Mutation_p.A149T|SHMT2_ENST00000328923.3_Missense_Mutation_p.A149T|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000553474.1_Missense_Mutation_p.A128T|SHMT2_ENST00000414700.3_Missense_Mutation_p.A128T|SHMT2_ENST00000449049.3_Missense_Mutation_p.A128T			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													30	147					0	0	1	0	0	A	57625629	G	A	57625629	4	1	22	1	0	0	0	0	0	1	0	0	14341	1203	42	2	459	2	SHMT2	12	57625629	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19350	57625629	76226266	13061	15207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557487.1_Missense_Mutation_p.R204Q|SHMT2_ENST00000393827.4_Missense_Mutation_p.R118Q|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000553474.1_Missense_Mutation_p.R193Q|SHMT2_ENST00000414700.3_Missense_Mutation_p.R193Q|SHMT2_ENST00000449049.3_Missense_Mutation_p.R193Q	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													149	688					0	0	1	0	0	A	57626282	G	A	57626282	3	1	22	1	0	0	0	0	1	0	0	0	14341	1058	37	1	663	1	SHMT2	12	57626282	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	653	57626282	76225613	13062	15208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57626358G>T	ENST00000328923.3	+	6	1169	c.717_splice	c.e6+1	p.E239_splice	SHMT2_ENST00000557487.1_Splice_Site_p.E229_splice|SHMT2_ENST00000393827.4_Splice_Site_p.E143_splice|SHMT2_ENST00000553474.1_Splice_Site_p.E218_splice|SHMT2_ENST00000414700.3_Splice_Site_p.E218_splice|SHMT2_ENST00000449049.3_Splice_Site_p.E218_splice	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													120	630					7.79355e-45	9.54326e-45	1	1	0	T	57626358	G	T	57626358	5	4	22	1	0	0	0	0	0	0	1	0	14341	1014	35	2	739	2	SHMT2	12	57626358	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76	57626358	76225537	13063	15209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	INHBC_ENST00000550133.1_Intron	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													80	359					0	0	1	0	0	T	57843728	C	T	57843728	3	4	22	1	0	0	0	0	1	0	0	0	7787	797	28	2	988	2	INHBC	12	57843728	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217370	57843728	76008167	13064	15210											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	279					0	0	1	0	0	A	57859671	G	A	57859671	3	1	22	1	0	0	0	0	1	0	0	0	6479	1319	46	2	747	2	GLI1	12	57859671	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15943	57859671	75992224	13065	15211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													156	609					4.34486e-62	5.47472e-62	1	1	0	T	57860099	G	T	57860099	3	4	22	1	0	0	0	0	1	0	0	0	6479	1000	35	2	865	2	GLI1	12	57860099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	428	57860099	75991796	13066	15212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	403					0	0	1	0	0	T	57864247	C	T	57864247	3	4	22	1	0	0	0	0	1	0	0	0	6479	710	25	2	1766	2	GLI1	12	57864247	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4148	57864247	75987648	13067	15213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	146					2.87052e-16	3.15093e-16	1	1	0	A	57864506	C	A	57864506	2	1	22	1	0	0	0	0	0	0	0	1	6479	784	28	2		2	GLI1	12	57864506	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	259	57864506	75987389	13068	15214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393791.3_Missense_Mutation_p.L30F|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.L30F|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.L109F|ARHGAP9_ENST00000356411.2_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													44	427					0	0	1	0	0	A	57873102	G	A	57873102	3	1	22	1	0	0	0	0	1	0	0	0	886	1000	35	2	2175	2	ARHGAP9	12	57873102	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8596	57873102	75978793	13069	15215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	103					0	0	1	0	0	A	57968967	G	A	57968967	3	1	22	1	0	0	0	0	1	0	0	0	8347	1116	39	1	1879	1	KIF5A	12	57968967	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95865	57968967	75882928	13070	15216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													192	905					0	0	1	0	0	A	57969516	G	A	57969516	3	1	22	1	0	0	0	0	1	0	0	0	8347	1291	45	2	2065	2	KIF5A	12	57969516	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	549	57969516	75882379	13071	15217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422156.3_Missense_Mutation_p.S234I|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.S264I			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													292	1404					6.86218e-66	8.67879e-66	1	1	0	T	57994625	G	T	57994625	3	4	22	1	0	0	0	0	1	0	0	0	11986	971	34	2	875	2	PIP4K2C	12	57994625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25109	57994625	75857270	13072	15218											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	121					0	0	1	0	0	A	58021501	G	A	58021501	2	1	22	1	0	0	0	0	0	0	0	1	1264	958	34	2		2	B4GALNT1	12	58021501	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26876	58021501	75830394	13073	15219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449184.3_Intron|B4GALNT1_ENST00000418555.2_Silent_p.G189G	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													27	108					0	0	1	0	0	G	58022910	T	G	58022910	2	3	22	1	0	0	0	0	0	0	0	1	1264	1654	58	3		3	B4GALNT1	12	58022910	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1409	58022910	75828985	13074	15220											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	1730					0	0	1	0	0	T	58126674	C	T	58126674	2	4	22	1	0	0	0	0	0	0	0	1	367	912	32	2		2	AGAP2	12	58126674	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103764	58126674	75725221	13075	15221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540325.1_Missense_Mutation_p.R2C|CDK4_ENST00000312990.6_Intron|CDK4_ENST00000551888.1_Intron|CDK4_ENST00000549606.1_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				91	316					0	0	1	0	0	A	58144864	G	A	58144864	3	1	22	1	0	0	0	0	1	0	0	0	3163	1087	38	1	567	1	CDK4	12	58144864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18190	58144864	75707031	13076	15222											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540325.1_Intron|CDK4_ENST00000312990.6_Intron|CDK4_ENST00000551888.1_Intron|CDK4_ENST00000549606.1_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				116	519					1.76152e-51	2.18623e-51	1	1	0	T	58145073	G	T	58145073	3	4	22	1	0	0	0	0	1	0	0	0	3163	991	35	2	664	2	CDK4	12	58145073	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	209	58145073	75706822	13077	15223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	257					0	0	1	0	0	T	58151910	C	T	58151910	3	4	22	1	0	0	0	0	1	0	0	0	9358	536	19	1	543	1	MARCH9	12	58151910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6837	58151910	75699985	13078	15224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TSFM_ENST00000548851.1_Intron|AVIL_ENST00000550083.1_5'UTR|AVIL_ENST00000257861.3_Missense_Mutation_p.Q608H			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)	26	793					3.65163e-15	3.98403e-15	1	1	0	A	58197168	C	A	58197168	3	1	22	1	0	0	0	0	1	0	0	0	1225	796	28	2	655	2	AVIL	12	58197168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45258	58197168	75654727	13079	15225											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TSFM_ENST00000548851.1_Intron|AVIL_ENST00000550083.1_5'UTR|AVIL_ENST00000257861.3_Missense_Mutation_p.I517T			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													30	311					0	0	1	0	0	G	58200264	A	G	58200264	3	3	22	1	0	0	0	0	1	0	0	0	1225	101	4	3	937	3	AVIL	12	58200264	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3096	58200264	75651631	13080	15226											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	307					4.41824e-40	5.35239e-40	1	1	0	A	58203397	C	A	58203397	3	1	22	1	0	0	0	0	1	0	0	0	1225	797	28	2	1585	2	AVIL	12	58203397	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3133	58203397	75648498	13081	15227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000547701.1_5'UTR|CTDSP2_ENST00000548823.1_Missense_Mutation_p.G34E	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													47	467					0	0	1	0	0	T	58223343	C	T	58223343	3	4	22	1	0	0	0	0	1	0	0	0	4028	855	30	2	742	2	CTDSP2	12	58223343	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19946	58223343	75628552	13082	15228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	122					0	0	1	0	0	A	58335665	G	A	58335665	3	1	22	1	0	0	0	0	1	0	0	0	17518	1175	41	2	183	2	XRCC6BP1	12	58335665	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112322	58335665	75516230	13083	15229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								47	268					0	0	1	0	0	C	59277343	T	C	59277343	2	2	22	1	0	0	0	0	0	0	0	1	8991	1635	57	3		3	LRIG3	12	59277343	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	941678	59277343	74574552	13084	15230											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								190	783					0	0	1	0	0	A	59283900	G	A	59283900	2	1	22	1	0	0	0	0	0	0	0	1	8991	1277	45	2		2	LRIG3	12	59283900	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6557	59283900	74567995	13085	15231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								46	159					0	0	1	0	0	A	59284508	G	A	59284508	3	1	22	1	0	0	0	0	1	0	0	0	8991	1000	35	2	2969	2	LRIG3	12	59284508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	608	59284508	74567387	13086	15232											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000552024.1_Silent_p.G389G|SLC16A7_ENST00000543448.1_Silent_p.G290G|SLC16A7_ENST00000547379.1_Silent_p.G389G	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|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													48	300					0	0	1	0	0	T	60169243	C	T	60169243	2	4	22	1	0	0	0	0	0	0	0	1	14468	726	26	2		2	SLC16A7	12	60169243	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	884735	60169243	73682652	13087	15233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000312635.6_Missense_Mutation_p.Y89C|USP15_ENST00000393654.3_Missense_Mutation_p.Y89C|USP15_ENST00000353364.3_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													93	395					0	0	1	0	0	G	62696619	A	G	62696619	3	3	22	1	0	0	0	0	1	0	0	0	17106	391	14	3	276	3	USP15	12	62696619	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2527376	62696619	71155276	13088	15234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393654.3_Silent_p.A318A|USP15_ENST00000353364.3_Silent_p.A314A	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													68	282					0	0	1	0	0	T	62775384	C	T	62775384	2	4	22	1	0	0	0	0	0	0	0	1	17106	639	23	1		1	USP15	12	62775384	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78765	62775384	71076511	13089	15235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393654.3_Missense_Mutation_p.P378S|USP15_ENST00000353364.3_Missense_Mutation_p.P374S	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													50	266					0	0	1	0	0	T	62777738	C	T	62777738	3	4	22	1	0	0	0	0	1	0	0	0	17106	507	18	2	1154	2	USP15	12	62777738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2354	62777738	71074157	13090	15236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393632.2_Missense_Mutation_p.V35G|MON2_ENST00000393629.2_Missense_Mutation_p.V35G|MON2_ENST00000552738.1_Missense_Mutation_p.V35G|MON2_ENST00000552115.1_Missense_Mutation_p.V35G|MON2_ENST00000280379.6_Missense_Mutation_p.V35G|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000546600.1_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													78	324					0	0	1	0	0	G	62861091	T	G	62861091	3	3	22	1	0	0	0	0	1	0	0	0	9749	1667	58	3	106	3	MON2	12	62861091	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	83353	62861091	70990804	13091	15237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	341					0	0	1	0	0	T	63195669	C	T	63195669	3	4	22	1	0	0	0	0	1	0	0	0	12390	768	27	1	893	1	PPM1H	12	63195669	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	334578	63195669	70656226	13092	15238											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	272					0	0	1	0	0	A	63544452	G	A	63544452	2	1	22	1	0	0	0	0	0	0	0	1	1229	1048	37	1		1	AVPR1A	12	63544452	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	348783	63544452	70307443	13093	15239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	146					0	0	1	0	0	A	64038261	G	A	64038261	3	1	22	1	0	0	0	0	1	0	0	0	4767	971	34	2	1619	2	DPY19L2	12	64038261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	493809	64038261	69813634	13094	15240											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357825.3_Silent_p.S313S|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Silent_p.S273S	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													71	303					0	0	1	0	0	T	64456834	C	T	64456834	2	4	22	1	0	0	0	0	0	0	0	1	15201	767	27	1		1	SRGAP1	12	64456834	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	418573	64456834	69395061	13095	15241											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357825.3_Missense_Mutation_p.D461E|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D421E	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													8	214					0.0477658	0.0478703	1	1	0	A	64474125	C	A	64474125	3	1	22	1	0	0	0	0	1	0	0	0	15201	564	20	2	1421	2	SRGAP1	12	64474125	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17291	64474125	69377770	13096	15242											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357825.3_Intron|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Intron	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													37	190					0	0	1	0	0	T	64485152	C	T	64485152	2	4	22	1	0	0	0	0	0	0	0	1	15201	883	31	1		1	SRGAP1	12	64485152	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11027	64485152	69366743	13097	15243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357825.3_Missense_Mutation_p.D809G|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D769G	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													6	216					0	0	1	0	0	G	64521459	A	G	64521459	3	3	22	1	0	0	0	0	1	0	0	0	15201	275	10	3	2573	3	SRGAP1	12	64521459	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36307	64521459	69330436	13098	15244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357825.3_Missense_Mutation_p.L986I|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L946I	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													11	336					1.49906e-05	1.53515e-05	1	1	0	A	64536219	C	A	64536219	3	1	22	1	0	0	0	0	1	0	0	0	15201	913	32	2	3111	2	SRGAP1	12	64536219	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14760	64536219	69315676	13099	15245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357825.3_Silent_p.L989L|SRGAP1_ENST00000543397.1_Silent_p.L949L	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													61	293					0	0	1	0	0	A	64536230	G	A	64536230	2	1	22	1	0	0	0	0	0	0	0	1	15201	1310	46	2		2	SRGAP1	12	64536230	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11	64536230	69315665	13100	15246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Silent_p.T370T	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													40	158					0	0	1	0	0	G	64664489	A	G	64664489	2	3	22	1	0	0	0	0	0	0	0	1	1706	59	3	3		3	C12orf56	12	64664489	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	128259	64664489	69187406	13101	15247											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	395					0	0	1	0	0	A	64818836	G	A	64818836	2	1	22	1	0	0	0	0	0	0	0	1	17510	1248	44	2		2	XPOT	12	64818836	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154347	64818836	69033059	13102	15248											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	344					2.47556e-37	2.97223e-37	1	1	0	A	64841907	C	A	64841907	3	1	22	1	0	0	0	0	1	0	0	0	17510	623	22	2	2979	2	XPOT	12	64841907	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23071	64841907	69009988	13103	15249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	469					0	0	1	0	0	T	64895141	C	T	64895141	3	4	22	1	0	0	0	0	1	0	0	0	15697	884	31	1	2248	1	TBK1	12	64895141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53234	64895141	68956754	13104	15250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								34	152					0	0	1	0	0	A	65461485	G	A	65461485	2	1	22	1	0	0	0	0	0	0	0	1	17426	1020	36	2		2	WIF1	12	65461485	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	566344	65461485	68390410	13105	15251											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								74	367					5.96624e-29	6.96048e-29	1	1	0	T	65462580	G	T	65462580	3	4	22	1	0	0	0	0	1	0	0	0	17426	1261	44	2	665	2	WIF1	12	65462580	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1095	65462580	68389315	13106	15252											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	266					0	0	1	0	0	A	65632541	G	A	65632541	3	1	22	1	0	0	0	0	1	0	0	0	8760	1145	40	1	1890	1	LEMD3	12	65632541	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169961	65632541	68219354	13107	15253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538725.1_3'UTR|MSRB3_ENST00000355192.3_Intron|MSRB3_ENST00000540804.1_Intron|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													72	360					0	0	1	0	0	A	65702408	G	A	65702408	3	1	22	1	0	0	0	0	1	0	0	0	9937	971	34	2	152	2	MSRB3	12	65702408	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69867	65702408	68149487	13108	15254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	578					0	0	1	0	0	A	65856975	G	A	65856975	3	1	22	1	0	0	0	0	1	0	0	0	9937	1145	40	1	554	1	MSRB3	12	65856975	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154567	65856975	67994920	13109	15255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542724.1_Missense_Mutation_p.L16F|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000286424.7_Missense_Mutation_p.L94F|TMBIM4_ENST00000556010.1_Missense_Mutation_p.L47F|TMBIM4_ENST00000398033.4_Missense_Mutation_p.L47F|TMBIM4_ENST00000539652.1_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													43	231					0	0	1	0	0	A	66547187	G	A	66547187	3	1	22	1	0	0	0	0	1	0	0	0	16042	942	33	2	601	2	TMBIM4	12	66547187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	690212	66547187	67304708	13110	15256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	406					4.29146e-36	5.13238e-36	1	1	0	T	66700219	G	T	66700219	2	4	22	1	0	0	0	0	0	0	0	1	7086	1248	44	2		2	HELB	12	66700219	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153032	66700219	67151676	13111	15257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	292					0	0	1	0	0	G	66718889	A	G	66718889	3	3	22	1	0	0	0	0	1	0	0	0	7086	43	2	3	2695	3	HELB	12	66718889	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18670	66718889	67133006	13112	15258											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000286445.7_Missense_Mutation_p.A27T|GRIP1_ENST00000398016.3_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													78	342					0	0	1	0	0	T	66990684	C	T	66990684	3	4	22	1	0	0	0	0	1	0	0	0	6828	768	27	1	3243	1	GRIP1	12	66990684	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271795	66990684	66861211	13113	15259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	519					0	0	1	0	0	T	67686551	C	T	67686551	3	4	22	1	0	0	0	0	1	0	0	0	2633	855	30	2	372	2	CAND1	12	67686551	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	695867	67686551	66165344	13114	15260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	562					3.61848e-18	4.01023e-18	1	1	0	A	67699732	C	A	67699732	3	1	22	1	0	0	0	0	1	0	0	0	2633	912	32	2	2322	2	CAND1	12	67699732	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13181	67699732	66152163	13115	15261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													149	626					0	0	1	0	0	C	68619463	T	C	68619463	3	2	22	1	0	0	0	0	1	0	0	0	7723	1812	63	3	461	3	IL26	12	68619463	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	919731	68619463	65232432	13116	15262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540418.1_Missense_Mutation_p.E228K|MDM1_ENST00000411698.2_Missense_Mutation_p.E473K	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													66	249					0	0	1	0	0	T	68707511	C	T	68707511	3	4	22	1	0	0	0	0	1	0	0	0	9462	922	32	2	642	2	MDM1	12	68707511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88048	68707511	65144384	13117	15263											
RAP1B	5908	broad.mit.edu	37	chr12	69044201	69044202	+	Frame_Shift_Ins	INS	-	-	T													tgtacaatttgttcaaggaaINStttttgtagaaaaatacgat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69044201_69044202insT	ENST00000250559.9	+	3	310_311	c.79_80insT	c.(79-81)tttfs	p.F27fs	RAP1B_ENST00000543697.1_Frame_Shift_Ins_p.F27fs|RAP1B_ENST00000450214.2_Intron|RAP1B_ENST00000341355.5_Frame_Shift_Ins_p.F27fs|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000393436.5_Frame_Shift_Ins_p.F27fs|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000537460.1_Frame_Shift_Ins_p.F27fs|RAP1B_ENST00000539091.1_Intron|RAP1B_ENST00000542145.1_Frame_Shift_Ins_p.F27fs|RAP1B_ENST00000541216.1_Frame_Shift_Ins_p.F27fs|RAP1B_ENST00000540209.1_Frame_Shift_Ins_p.F27fs	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	27					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)		TGTTCAAGGAATTTTTGTAGAA	0.248													27	112	---	---	---	---						T	69044202	-	T	69044201	7	5	22	1	0	1	1	0	0	0	0	0	13088	101	4	0	85	0	RAP1B	12	69044201	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	336690	69044201	64807694	13118	15264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542145.1_Missense_Mutation_p.R116W|RAP1B_ENST00000450214.2_Missense_Mutation_p.R121W|RAP1B_ENST00000537460.1_Missense_Mutation_p.R163W|RAP1B_ENST00000543393.1_Missense_Mutation_p.R97W|RAP1B_ENST00000341355.5_Missense_Mutation_p.R163W|RAP1B_ENST00000378985.3_Missense_Mutation_p.R97W|RAP1B_ENST00000539091.1_Missense_Mutation_p.R121W|RAP1B_ENST00000543697.1_Missense_Mutation_p.R115W|RAP1B_ENST00000393436.5_Missense_Mutation_p.R163W|RAP1B_ENST00000540209.1_Missense_Mutation_p.R144W|RAP1B_ENST00000463493.1_3'UTR	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													114	460					0	0	1	0	0	T	69050899	C	T	69050899	3	4	22	1	0	0	0	0	1	0	0	0	13088	759	27	1	509	1	RAP1B	12	69050899	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6698	69050899	64800996	13119	15265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	324					0	0	1	0	0	A	69125432	G	A	69125432	3	1	22	1	0	0	0	0	1	0	0	0	10801	1058	37	1	2017	1	NUP107	12	69125432	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74533	69125432	64726463	13120	15266											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000258148.7_Missense_Mutation_p.S163I|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.S157I|MDM2_ENST00000350057.5_Missense_Mutation_p.S187I|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000517852.1_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"								60	608					1.77267e-40	2.14974e-40	1	1	0	T	69222680	G	T	69222680	3	4	22	1	0	0	0	0	1	0	0	0	9463	971	34	2	683	2	MDM2	12	69222680	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97248	69222680	64629215	13121	15267											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.L485P	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													64	345					0	0	1	0	0	C	69653851	T	C	69653851	3	2	22	1	0	0	0	0	1	0	0	0	3852	1580	55	3	1373	3	CPSF6	12	69653851	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	431171	69653851	64198044	13122	15268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	347					0	0	1	0	0	A	69987317	G	A	69987317	2	1	22	1	0	0	0	0	0	0	0	1	2975	962	34	2		2	CCT2	12	69987317	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	333466	69987317	63864578	13123	15269											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	491					0	0	1	0	0	T	69990949	C	T	69990949	2	4	22	1	0	0	0	0	0	0	0	1	2975	668	24	2		2	CCT2	12	69990949	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3632	69990949	63860946	13124	15270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													146	682					0	0	1	0	0	G	69991040	T	G	69991040	3	3	22	1	0	0	0	0	1	0	0	0	2975	1783	62	3	1129	3	CCT2	12	69991040	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	91	69991040	63860855	13125	15271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	362					0	0	1	0	0	T	69991508	C	T	69991508	3	4	22	1	0	0	0	0	1	0	0	0	2975	768	27	1	1239	1	CCT2	12	69991508	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	468	69991508	63860387	13126	15272											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.L286M|BEST3_ENST00000553096.1_Missense_Mutation_p.L393M	NM_032735.2	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													82	702					2.27507e-24	2.6007e-24	1	1	0	T	70049199	G	T	70049199	3	4	22	1	0	0	0	0	1	0	0	0	1404	1020	36	2	515	2	BEST3	12	70049199	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57691	70049199	63802696	13127	15273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.A219S|BEST3_ENST00000553096.1_Missense_Mutation_p.A326S	NM_032735.2	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													42	417					5.59293e-11	5.94944e-11	1	1	0	A	70049400	C	A	70049400	3	1	22	1	0	0	0	0	1	0	0	0	1404	797	28	2	716	2	BEST3	12	70049400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	201	70049400	63802495	13128	15274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000362025.5_Missense_Mutation_p.A71T|RAB3IP_ENST00000378815.6_Missense_Mutation_p.A55T|RAB3IP_ENST00000247833.7_Missense_Mutation_p.A55T|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.A55T	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													9	394					0	0	1	0	0	A	70149351	G	A	70149351	3	1	22	1	0	0	0	0	1	0	0	0	12990	1203	42	2	217	2	RAB3IP	12	70149351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99951	70149351	63702544	13129	15275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000362025.5_Missense_Mutation_p.S77P|RAB3IP_ENST00000378815.6_Missense_Mutation_p.S61P|RAB3IP_ENST00000247833.7_Missense_Mutation_p.S61P|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.S61P	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													72	317					0	0	1	0	0	C	70149369	T	C	70149369	3	2	22	1	0	0	0	0	1	0	0	0	12990	1783	62	3	235	3	RAB3IP	12	70149369	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18	70149369	63702526	13130	15276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000362025.5_Intron|RAB3IP_ENST00000247833.7_Missense_Mutation_p.D396G|RAB3IP_ENST00000325555.9_Missense_Mutation_p.D190G|RAB3IP_ENST00000553099.1_Missense_Mutation_p.D190G|RAB3IP_ENST00000550847.1_Missense_Mutation_p.D103G|AC025263.3_ENST00000550437.1_Missense_Mutation_p.D37G|RAB3IP_ENST00000551641.1_Missense_Mutation_p.D190G|RAB3IP_ENST00000483530.2_Intron	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													74	318					0	0	1	0	0	G	70206614	A	G	70206614	3	3	22	1	0	0	0	0	1	0	0	0	12990	275	10	3	1269	3	RAB3IP	12	70206614	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	57245	70206614	63645281	13131	15277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70731292C>A	ENST00000229195.3	+	9	1478	c.900_splice	c.e9+1	p.S300_splice	CNOT2_ENST00000418359.3_Splice_Site_p.S300_splice|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													36	290					1.836e-18	2.03801e-18	1	1	0	A	70731292	C	A	70731292	5	1	22	1	0	0	0	0	0	0	1	0	3642	927	32	2	929	2	CNOT2	12	70731292	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	524678	70731292	63120603	13132	15278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	393					0	0	1	0	0	A	70760741	G	A	70760741	3	1	22	1	0	0	0	0	1	0	0	0	8121	1319	46	2	229	2	KCNMB4	12	70760741	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29449	70760741	63091154	13133	15279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451516.2_Missense_Mutation_p.S1490N|PTPRB_ENST00000538708.1_Missense_Mutation_p.S1490N|PTPRB_ENST00000550857.1_Missense_Mutation_p.S1490N|PTPRB_ENST00000261266.5_Missense_Mutation_p.S1580N|PTPRB_ENST00000550358.1_Missense_Mutation_p.S1710N	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													22	106					0	0	1	0	0	T	70938438	C	T	70938438	3	4	22	1	0	0	0	0	1	0	0	0	12848	797	28	2	1306	2	PTPRB	12	70938438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177697	70938438	62913457	13134	15280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70949649C>T	ENST00000334414.6	-	19	5038		c.e19+1		PTPRB_ENST00000451516.2_Splice_Site|PTPRB_ENST00000538708.1_Splice_Site|PTPRB_ENST00000550857.1_Splice_Site|PTPRB_ENST00000261266.5_Splice_Site|PTPRB_ENST00000550358.1_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													19	90					0	0	1	0	0	T	70949649	C	T	70949649	5	4	22	1	0	0	0	0	0	0	1	0	12848	550	19	1	1717	1	PTPRB	12	70949649	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11211	70949649	62902246	13135	15281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451516.2_Missense_Mutation_p.K1243T|PTPRB_ENST00000551525.1_Missense_Mutation_p.K1550T|PTPRB_ENST00000538708.1_Missense_Mutation_p.K1243T|PTPRB_ENST00000550857.1_Missense_Mutation_p.K1243T|PTPRB_ENST00000261266.5_Missense_Mutation_p.K1333T|PTPRB_ENST00000550358.1_Missense_Mutation_p.K1463T	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													192	708					0	0	1	0	0	G	70953185	T	G	70953185	3	3	22	1	0	0	0	0	1	0	0	0	12848	1609	56	3	2063	3	PTPRB	12	70953185	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3536	70953185	62898710	13136	15282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451516.2_Missense_Mutation_p.R1210G|PTPRB_ENST00000551525.1_Missense_Mutation_p.R1517G|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1210G|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1210G|PTPRB_ENST00000261266.5_Missense_Mutation_p.R1300G|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1430G	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													190	740					0	0	1	0	0	C	70953285	T	C	70953285	3	2	22	1	0	0	0	0	1	0	0	0	12848	1588	55	3	2163	3	PTPRB	12	70953285	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	100	70953285	62898610	13137	15283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70974816C>A	ENST00000334414.6	-	10	2622	c.2578_splice	c.e10+1	p.V860_splice	PTPRB_ENST00000451516.2_Splice_Site_p.V552_splice|PTPRB_ENST00000551525.1_Splice_Site_p.V859_splice|PTPRB_ENST00000538708.1_Splice_Site_p.V642_splice|PTPRB_ENST00000550857.1_Splice_Site_p.V552_splice|PTPRB_ENST00000261266.5_Splice_Site_p.V642_splice|PTPRB_ENST00000550358.1_Splice_Site_p.V860_splice	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													46	217					9.84934e-19	1.0948e-18	1	1	0	A	70974816	C	A	70974816	5	1	22	1	0	0	0	0	0	0	1	0	12848	695	24	2	4169	2	PTPRB	12	70974816	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21531	70974816	62877079	13138	15284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451516.2_Missense_Mutation_p.E429K|PTPRB_ENST00000551525.1_Missense_Mutation_p.E736K|PTPRB_ENST00000538708.1_Missense_Mutation_p.E519K|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.E429K|PTPRB_ENST00000261266.5_Missense_Mutation_p.E519K|PTPRB_ENST00000550358.1_Missense_Mutation_p.E737K	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													66	277					0	0	1	0	0	T	70980889	C	T	70980889	3	4	22	1	0	0	0	0	1	0	0	0	12848	922	32	2	4542	2	PTPRB	12	70980889	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6073	70980889	62871006	13139	15285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451516.2_Missense_Mutation_p.S359I|PTPRB_ENST00000551525.1_Missense_Mutation_p.S576I|PTPRB_ENST00000538708.1_Missense_Mutation_p.S359I|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.S359I|PTPRB_ENST00000261266.5_Missense_Mutation_p.S359I|PTPRB_ENST00000550358.1_Missense_Mutation_p.S577I	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													69	336					1.63498e-16	1.79634e-16	1	1	0	A	70986112	C	A	70986112	3	1	22	1	0	0	0	0	1	0	0	0	12848	797	28	2	5029	2	PTPRB	12	70986112	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5223	70986112	62865783	13140	15286											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451516.2_Missense_Mutation_p.G315V|PTPRB_ENST00000551525.1_Missense_Mutation_p.G532V|PTPRB_ENST00000538708.1_Missense_Mutation_p.G315V|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.G315V|PTPRB_ENST00000261266.5_Missense_Mutation_p.G315V|PTPRB_ENST00000550358.1_Missense_Mutation_p.G533V	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													11	193					0.010729	0.0107869	1	1	0	A	70986244	C	A	70986244	3	1	22	1	0	0	0	0	1	0	0	0	12848	855	30	2	5161	2	PTPRB	12	70986244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132	70986244	62865651	13141	15287											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000551525.1_Missense_Mutation_p.G76V|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Missense_Mutation_p.G77V	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													25	112					4.26978e-12	4.57227e-12	1	1	0	A	71029672	C	A	71029672	3	1	22	1	0	0	0	0	1	0	0	0	12848	739	26	2	6607	2	PTPRB	12	71029672	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43428	71029672	62822223	13142	15288											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TSPAN8_ENST00000393330.2_Intron|LGR5_ENST00000536515.1_Missense_Mutation_p.T68A|LGR5_ENST00000540815.2_Missense_Mutation_p.T68A			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													10	293					0	0	1	0	0	G	71834062	A	G	71834062	3	3	22	1	0	0	0	0	1	0	0	0	8797	159	6	3	204	3	LGR5	12	71834062	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	804390	71834062	62017833	13143	15289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	462					3.07112e-06	3.16074e-06	1	1	0	T	71972657	G	T	71972657	4	4	22	1	0	0	0	0	0	1	0	0	8797	1001	35	2	1412	2	LGR5	12	71972657	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138595	71972657	61879238	13144	15290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	495					0	0	1	0	0	T	71978503	C	T	71978503	3	4	22	1	0	0	0	0	1	0	0	0	8797	623	22	2	2783	2	LGR5	12	71978503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5846	71978503	61873392	13145	15291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	487					6.62378e-67	8.38613e-67	1	1	0	A	72008644	C	A	72008644	3	1	22	1	0	0	0	0	1	0	0	0	17691	913	32	2	667	2	ZFC3H1	12	72008644	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30141	72008644	61843251	13146	15292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	227					0	0	1	0	0	C	72017193	T	C	72017193	3	2	22	1	0	0	0	0	1	0	0	0	17691	1812	63	3	1326	3	ZFC3H1	12	72017193	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8549	72017193	61834702	13147	15293											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	170					0	0	1	0	0	C	72024411	T	C	72024411	2	2	22	1	0	0	0	0	0	0	0	1	17691	1799	63	3		3	ZFC3H1	12	72024411	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7218	72024411	61827484	13148	15294											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													186	910					0	0	1	0	0	T	72026135	C	T	72026135	3	4	22	1	0	0	0	0	1	0	0	0	17691	864	30	2	3076	2	ZFC3H1	12	72026135	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1724	72026135	61825760	13149	15295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	474					0	0	1	0	0	C	72030364	T	C	72030364	3	2	22	1	0	0	0	0	1	0	0	0	17691	1493	52	3	4071	3	ZFC3H1	12	72030364	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4229	72030364	61821531	13150	15296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	68					0	0	1	0	0	A	72032277	G	A	72032277	3	1	22	1	0	0	0	0	1	0	0	0	17691	1116	39	1	4439	1	ZFC3H1	12	72032277	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1913	72032277	61819618	13151	15297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	497					0	0	1	0	0	G	72036294	C	G	72036294	3	3	22	1	0	0	0	0	1	0	0	0	17691	826	29	5	4540	5	ZFC3H1	12	72036294	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4017	72036294	61815601	13152	15298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000548100.1_Missense_Mutation_p.S28R|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S28R	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)	206	992					0	0	1	0	0	G	72057309	T	G	72057309	3	3	22	1	0	0	0	0	1	0	0	0	17691	1580	55	3	6027	3	ZFC3H1	12	72057309	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21015	72057309	61794586	13153	15299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	250					0	0	1	0	0	T	72070775	C	T	72070775	3	4	22	1	0	0	0	0	1	0	0	0	15904	507	18	2	584	2	THAP2	12	72070775	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13466	72070775	61781120	13154	15300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	33					0.00198382	0.00200138	1	1	0	A	72080331	C	A	72080331	1	1	22	1	0	0	0	0	0	0	0	0	16173	812	28	2		2	TMEM19	12	72080331	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9556	72080331	61771564	13155	15301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	434					0	0	1	0	0	T	72083392	C	T	72083392	3	4	22	1	0	0	0	0	1	0	0	0	16173	652	23	1	158	1	TMEM19	12	72083392	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3061	72083392	61768503	13156	15302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393309.3_Missense_Mutation_p.R171K|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R400K|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R408K	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													22	92					0	0	1	0	0	A	72300817	G	A	72300817	3	1	22	1	0	0	0	0	1	0	0	0	15661	942	33	2	1420	2	TBC1D15	12	72300817	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217425	72300817	61551078	13157	15303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	235					2.12129e-23	2.41242e-23	1	1	0	T	72416266	G	T	72416266	4	4	22	1	0	0	0	0	0	1	0	0	16463	943	33	2	1190	2	TPH2	12	72416266	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115449	72416266	61435629	13158	15304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	395					0	0	1	0	0	A	72425041	G	A	72425041	3	1	22	1	0	0	0	0	1	0	0	0	16463	1087	38	1	1206	1	TPH2	12	72425041	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8775	72425041	61426854	13159	15305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	523					7.07596e-05	7.20791e-05	1	1	0	T	72667284	G	T	72667284	3	4	22	1	0	0	0	0	1	0	0	0	16540	933	33	2	728	2	TRHDE	12	72667284	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242243	72667284	61184611	13160	15306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	309					2.6711e-34	3.17551e-34	1	1	0	A	72771827	C	A	72771827	3	1	22	1	0	0	0	0	1	0	0	0	16540	797	28	2	1116	2	TRHDE	12	72771827	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104543	72771827	61080068	13161	15307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	309					0	0	1	0	0	T	73014970	C	T	73014970	3	4	22	1	0	0	0	0	1	0	0	0	16540	710	25	2	2471	2	TRHDE	12	73014970	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	243143	73014970	60836925	13162	15308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000298972.1_Missense_Mutation_p.T398I|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000341669.3_Missense_Mutation_p.T398I|KCNC2_ENST00000548513.1_Missense_Mutation_p.T398I|KCNC2_ENST00000393288.2_Missense_Mutation_p.T398I|KCNC2_ENST00000550433.1_Missense_Mutation_p.T398I|KCNC2_ENST00000350228.2_Missense_Mutation_p.T398I|KCNC2_ENST00000540018.1_Missense_Mutation_p.T398I	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													51	224					0	0	1	0	0	A	75444592	G	A	75444592	3	1	22	1	0	0	0	0	1	0	0	0	8059	1261	44	2	801	2	KCNC2	12	75444592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2429622	75444592	58407303	13163	15309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000298972.1_Missense_Mutation_p.A390D|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000341669.3_Missense_Mutation_p.A390D|KCNC2_ENST00000548513.1_Missense_Mutation_p.A390D|KCNC2_ENST00000393288.2_Missense_Mutation_p.A390D|KCNC2_ENST00000550433.1_Missense_Mutation_p.A390D|KCNC2_ENST00000350228.2_Missense_Mutation_p.A390D|KCNC2_ENST00000540018.1_Missense_Mutation_p.A390D	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													53	207					3.4597e-24	3.94879e-24	1	1	0	T	75444616	G	T	75444616	3	4	22	1	0	0	0	0	1	0	0	0	8059	971	34	2	825	2	KCNC2	12	75444616	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24	75444616	58407279	13164	15310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000298972.1_Silent_p.V302V|KCNC2_ENST00000341669.3_Silent_p.V302V|KCNC2_ENST00000548513.1_Silent_p.V302V|KCNC2_ENST00000393288.2_Silent_p.V302V|KCNC2_ENST00000550433.1_Silent_p.V302V|KCNC2_ENST00000350228.2_Silent_p.V302V|KCNC2_ENST00000540018.1_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													15	518					0	0	1	0	0	C	75444879	A	C	75444879	2	2	22	1	0	0	0	0	0	0	0	1	8059	1	1	3		3	KCNC2	12	75444879	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	263	75444879	58407016	13165	15311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409004.1_Intron|CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409445.3_Missense_Mutation_p.D321G|CAPS2_ENST00000409799.1_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													44	195					0	0	1	0	0	C	75692696	T	C	75692696	3	2	22	1	0	0	0	0	1	0	0	0	2656	1667	58	3	743	3	CAPS2	12	75692696	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	247817	75692696	58159199	13166	15312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378695.4_Silent_p.A228A|CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000548623.1_3'UTR	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													47	224					0	0	1	0	0	T	75763911	C	T	75763911	2	4	22	1	0	0	0	0	0	0	0	1	6484	668	24	2		2	GLIPR1L1	12	75763911	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71215	75763911	58087984	13167	15313											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	437					0	0	1	0	0	A	75875790	G	A	75875790	4	1	22	1	0	0	0	0	0	1	0	0	6483	1270	44	2	357	2	GLIPR1	12	75875790	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111879	75875790	57976105	13168	15314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542344.1_Nonsense_Mutation_p.Q341*|NAP1L1_ENST00000544816.1_Nonsense_Mutation_p.Q200*|NAP1L1_ENST00000547773.1_Nonsense_Mutation_p.Q320*|NAP1L1_ENST00000393263.3_Nonsense_Mutation_p.Q383*|NAP1L1_ENST00000431879.3_Nonsense_Mutation_p.Q315*	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													106	412					0	0	1	0	0	A	76442238	G	A	76442238	4	1	22	1	0	0	0	0	0	1	0	0	10204	1299	45	2	32	2	NAP1L1	12	76442238	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	566448	76442238	57409657	13169	15315											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				98	397					0	0	1	0	0	G	76740146	A	G	76740146	3	3	22	1	0	0	0	0	1	0	0	0	1334	372	13	3	556	3	BBS10	12	76740146	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	297908	76740146	57111749	13170	15316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				92	417					0	0	1	0	0	C	76740403	A	C	76740403	3	2	22	1	0	0	0	0	1	0	0	0	1334	40	2	3	813	3	BBS10	12	76740403	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	257	76740403	57111492	13171	15317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	18	69					0	0	1	0	0	A	76742101	G	A	76742101	3	1	22	1	0	0	0	0	1	0	0	0	1334	1087	38	1	2141	1	BBS10	12	76742101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1698	76742101	57109794	13172	15318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393250.4_Missense_Mutation_p.D828E|OSBPL8_ENST00000393249.2_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													34	198					4.65686e-17	5.13078e-17	1	1	0	T	76749729	G	T	76749729	3	4	22	1	0	0	0	0	1	0	0	0	11330	1020	36	2	63	2	OSBPL8	12	76749729	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7628	76749729	57102166	13173	15319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393250.4_Missense_Mutation_p.P326S|OSBPL8_ENST00000393249.2_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													107	435					0	0	1	0	0	A	76784265	G	A	76784265	3	1	22	1	0	0	0	0	1	0	0	0	11330	1261	44	2	1623	2	OSBPL8	12	76784265	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34536	76784265	57067630	13174	15320											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334822.5_Silent_p.V183V|ZDHHC17_ENST00000359019.4_Silent_p.V133V	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													3	34					0	0	1	0	0	G	77208931	A	G	77208931	2	3	22	1	0	0	0	0	0	0	0	1	17665	407	15	3		3	ZDHHC17	12	77208931	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	424666	77208931	56642964	13175	15321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550789.1_3'UTR|ZDHHC17_ENST00000334822.5_Nonsense_Mutation_p.R445*	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													26	408					0	0	1	0	0	T	77239492	C	T	77239492	4	4	22	1	0	0	0	0	0	1	0	0	17665	528	19	1	1383	1	ZDHHC17	12	77239492	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30561	77239492	56612403	13176	15322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550789.1_3'UTR|ZDHHC17_ENST00000334822.5_Missense_Mutation_p.C456R	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													79	427					0	0	1	0	0	C	77239525	T	C	77239525	3	2	22	1	0	0	0	0	1	0	0	0	17665	1696	59	3	1416	3	ZDHHC17	12	77239525	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33	77239525	56612370	13177	15323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	303					0	0	1	0	0	T	77423632	C	T	77423632	2	4	22	1	0	0	0	0	0	0	0	1	4898	755	27	1		1	E2F7	12	77423632	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	184107	77423632	56428263	13178	15324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	365					0	0	1	0	0	A	77438548	G	A	77438548	3	1	22	1	0	0	0	0	1	0	0	0	4898	942	33	2	1910	2	E2F7	12	77438548	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14916	77438548	56413347	13179	15325											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266692.7_Missense_Mutation_p.V537I|NAV3_ENST00000536525.2_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)			44	237					0	0	1	0	0	A	78400927	G	A	78400927	3	1	22	1	0	0	0	0	1	0	0	0	10233	1029	36	2	1639	2	NAV3	12	78400927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	962379	78400927	55450968	13180	15326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266692.7_Missense_Mutation_p.N896T|NAV3_ENST00000536525.2_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)			70	327					0	0	1	0	0	C	78510602	A	C	78510602	3	2	22	1	0	0	0	0	1	0	0	0	10233	43	2	3	2737	3	NAV3	12	78510602	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	109675	78510602	55341293	13181	15327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266692.7_Silent_p.F1332F|NAV3_ENST00000536525.2_Silent_p.F1509F|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)			71	346					0	0	1	0	0	T	78531042	C	T	78531042	2	4	22	1	0	0	0	0	0	0	0	1	10233	883	31	1		1	NAV3	12	78531042	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20440	78531042	55320853	13182	15328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266692.7_Missense_Mutation_p.S1359P|NAV3_ENST00000536525.2_Missense_Mutation_p.S1536P|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)			12	400					0	0	1	0	0	C	78531121	T	C	78531121	3	2	22	1	0	0	0	0	1	0	0	0	10233	1551	54	3	4680	3	NAV3	12	78531121	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	79	78531121	55320774	13183	15329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266692.7_Silent_p.A1579A|NAV3_ENST00000536525.2_Silent_p.A1756A|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)			105	410					0	0	1	0	0	G	78571064	A	G	78571064	2	3	22	1	0	0	0	0	0	0	0	1	10233	204	8	3		3	NAV3	12	78571064	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39943	78571064	55280831	13184	15330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266692.7_Nonsense_Mutation_p.Y1843*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.Y2020*|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)			62	357					7.73544e-29	9.01949e-29	1	1	0	A	78583834	C	A	78583834	4	1	22	1	0	0	0	0	0	1	0	0	10233	576	20	2	6190	2	NAV3	12	78583834	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12770	78583834	55268061	13185	15331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266692.7_Silent_p.A2158A|NAV3_ENST00000541270.1_Silent_p.A187A|NAV3_ENST00000536525.2_Silent_p.A2335A|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)			11	260					2.80697e-09	2.95087e-09	1	1	0	A	78604210	C	A	78604210	2	1	22	1	0	0	0	0	0	0	0	1	10233	581	21	2		2	NAV3	12	78604210	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20376	78604210	55247685	13186	15332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	279					0	0	1	0	0	C	81102007	A	C	81102007	3	2	22	1	0	0	0	0	1	0	0	0	10076	14	1	3	511	3	MYF6	12	81102007	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2497797	81102007	52749888	13187	15333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	402					1.61004e-24	1.84098e-24	1	1	0	T	81111163	G	T	81111163	3	4	22	1	0	0	0	0	1	0	0	0	10075	933	33	2	323	2	MYF5	12	81111163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9156	81111163	52740732	13188	15334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													119	528					0	0	1	0	0	A	81111216	G	A	81111216	3	1	22	1	0	0	0	0	1	0	0	0	10075	1000	35	2	376	2	MYF5	12	81111216	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53	81111216	52740679	13189	15335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													137	652					0	0	1	0	0	T	81111235	C	T	81111235	2	4	22	1	0	0	0	0	0	0	0	1	10075	874	31	1		1	MYF5	12	81111235	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	81111235	52740660	13190	15336											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	188					0	0	1	0	0	T	81472066	C	T	81472066	3	4	22	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	13191	15337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	268					0	0	1	0	0	T	81536950	C	T	81536950	3	4	22	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	13192	15338											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R1063S|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R1149S|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R1164S|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R700S|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R1152S|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R1143S|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R1011S|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R1158S|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R1059S|PPFIA2_ENST00000541017.1_Missense_Mutation_p.R350S	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													18	81					1.10513e-12	1.18868e-12	1	1	0	A	81660794	C	A	81660794	3	1	22	1	0	0	0	0	1	0	0	0	12355	753	26	2	293	2	PPFIA2	12	81660794	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123844	81660794	52191101	13193	15339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Silent_p.S1031S|PPFIA2_ENST00000549325.1_Silent_p.S1117S|PPFIA2_ENST00000549396.1_Silent_p.S1132S|PPFIA2_ENST00000541570.2_Silent_p.S668S|PPFIA2_ENST00000333447.7_Silent_p.S1120S|PPFIA2_ENST00000552948.1_Silent_p.S1111S|PPFIA2_ENST00000550359.2_Silent_p.S979S|PPFIA2_ENST00000548586.1_Silent_p.S1126S|PPFIA2_ENST00000443686.3_Silent_p.S1027S|PPFIA2_ENST00000541017.1_Silent_p.S318S	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													10	53					0	0	1	0	0	A	81661781	G	A	81661781	2	1	22	1	0	0	0	0	0	0	0	1	12355	1078	38	1		1	PPFIA2	12	81661781	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	987	81661781	52190114	13194	15340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R771*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R827*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R412*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R827*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R692*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R746*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.R62*	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													141	614					0	0	1	0	0	A	81732974	G	A	81732974	4	1	22	1	0	0	0	0	0	1	0	0	12355	1066	37	1	1288	1	PPFIA2	12	81732974	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71193	81732974	52118921	13195	15341											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000321196.3_Missense_Mutation_p.L433R|TMTC2_ENST00000548305.1_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													88	385					0	0	1	0	0	G	83290240	T	G	83290240	3	3	22	1	0	0	0	0	1	0	0	0	16321	1522	53	3	1308	3	TMTC2	12	83290240	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1557266	83290240	50561655	13196	15342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	463					2.90702e-44	3.55655e-44	1	1	0	A	85255611	C	A	85255611	4	1	22	1	0	0	0	0	0	1	0	0	14733	922	32	2	203	2	SLC6A15	12	85255611	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1965371	85255611	48596284	13197	15343											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	95					0	0	1	0	0	G	85449460	T	G	85449460	3	3	22	1	0	0	0	0	1	0	0	0	9074	1493	52	3	915	3	LRRIQ1	12	85449460	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	193849	85449460	48402435	13198	15344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	376					2.56433e-40	3.10845e-40	1	1	0	A	85531680	C	A	85531680	3	1	22	1	0	0	0	0	1	0	0	0	9074	797	28	2	4336	2	LRRIQ1	12	85531680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82220	85531680	48320215	13199	15345											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	256					0	0	1	0	0	T	85623425	A	T	85623425	3	4	22	1	0	0	0	0	1	0	0	0	9074	98	4	5	5051	5	LRRIQ1	12	85623425	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	91745	85623425	48228470	13200	15346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	500					1.76056e-25	2.02043e-25	1	1	0	A	85695100	C	A	85695100	2	1	22	1	0	0	0	0	0	0	0	1	552	610	22	2		2	ALX1	12	85695100	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71675	85695100	48156795	13201	15347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	296					0	0	1	0	0	A	86272330	G	A	86272330	3	1	22	1	0	0	0	0	1	0	0	0	10757	1203	42	2	353	2	NTS	12	86272330	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	577230	86272330	47579565	13202	15348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	296					4.17593e-13	4.50145e-13	1	1	0	T	88380103	G	T	88380103	3	4	22	1	0	0	0	0	1	0	0	0	1701	942	33	2	352	2	C12orf50	12	88380103	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2107773	88380103	45471792	13203	15349											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	86					0	0	1	0	0	C	88437384	T	C	88437384	3	2	22	1	0	0	0	0	1	0	0	0	1686	1812	63	3	327	3	C12orf29	12	88437384	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	57281	88437384	45414511	13204	15350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88449353C>T	ENST00000552810.1	-	50	7303	c.6960_splice	c.e50+1	p.Q2320_splice	CEP290_ENST00000397838.3_Splice_Site_p.Q1380_splice|CEP290_ENST00000309041.7_Splice_Site_p.Q2322_splice|CEP290_ENST00000547691.2_Splice_Site_p.Q1380_splice	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													4	26					0	0	1	0	0	T	88449353	C	T	88449353	5	4	22	1	0	0	0	0	0	0	1	0	3275	695	24	2	499	2	CEP290	12	88449353	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11969	88449353	45402542	13205	15351											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	467					0	0	1	0	0	T	88566449	C	T	88566449	4	4	22	1	0	0	0	0	0	1	0	0	16322	760	27	1	1152	1	TMTC3	12	88566449	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117096	88566449	45285446	13206	15352											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000313546.3_Nonsense_Mutation_p.R452*|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000549035.1_Nonsense_Mutation_p.R410*|POC1B_ENST00000546740.1_5'UTR					POC1 centriolar protein B											endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						AAAGTCAGTCGCTGCTCCAAG	0.398													5	62					0	0	1	0	0	A	89815013	G	A	89815013	4	1	22	1	0	0	0	0	0	1	0	0	12224	1095	38	1	86	1	POC1B	12	89815013	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1248564	89815013	44036882	13207	15353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393179.4_5'UTR|POC1B_ENST00000541909.1_5'UTR|POC1B_ENST00000549504.1_5'UTR|POC1B_ENST00000549035.1_Silent_p.V86V	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													29	321					0	0	1	0	0	C	89885781	T	C	89885781	2	2	22	1	0	0	0	0	0	0	0	1	12224	1393	49	3		3	POC1B	12	89885781	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	70768	89885781	43966114	13208	15354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393164.2_Missense_Mutation_p.S883L|ATP2B1_ENST00000348959.3_Missense_Mutation_p.S1104L|ATP2B1_ENST00000359142.3_3'UTR|RP11-981P6.1_ENST00000552778.1_RNA|ATP2B1_ENST00000261173.2_Missense_Mutation_p.S1140L			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													86	358					0	0	1	0	0	A	89985005	G	A	89985005	3	1	22	1	0	0	0	0	1	0	0	0	1138	1059	37	1	247	1	ATP2B1	12	89985005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99224	89985005	43866890	13209	15355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393164.2_Missense_Mutation_p.R740I|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R997I|ATP2B1_ENST00000359142.3_Missense_Mutation_p.R997I|ATP2B1_ENST00000261173.2_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													10	241					0.000673444	0.000681208	1	1	0	A	89996890	C	A	89996890	3	1	22	1	0	0	0	0	1	0	0	0	1138	913	32	2	846	2	ATP2B1	12	89996890	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11885	89996890	43855005	13210	15356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393164.2_Missense_Mutation_p.A36D|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A293D|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A293D|ATP2B1_ENST00000261173.2_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													38	192					5.43694e-19	6.05247e-19	1	1	0	T	90024332	G	T	90024332	3	4	22	1	0	0	0	0	1	0	0	0	1138	971	34	2	3006	2	ATP2B1	12	90024332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27442	90024332	43827563	13211	15357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393164.2_Missense_Mutation_p.A20V|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A277V|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A277V|ATP2B1_ENST00000261173.2_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													35	232					0	0	1	0	0	A	90024380	G	A	90024380	3	1	22	1	0	0	0	0	1	0	0	0	1138	971	34	2	3054	2	ATP2B1	12	90024380	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	90024380	43827515	13212	15358											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348959.3_Missense_Mutation_p.G54E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.G54E|ATP2B1_ENST00000261173.2_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													54	247					0	0	1	0	0	T	90049503	C	T	90049503	3	4	22	1	0	0	0	0	1	0	0	0	1138	855	30	2	3739	2	ATP2B1	12	90049503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25123	90049503	43802392	13213	15359											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	80	401					0	0	1	0	0	G	91371927	A	G	91371927	3	3	22	1	0	0	0	0	1	0	0	0	5229	101	4	3	710	3	EPYC	12	91371927	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1322424	91371927	42479968	13214	15360											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	567					0	0	1	0	0	A	91449450	G	A	91449450	2	1	22	1	0	0	0	0	0	0	0	1	8186	1219	43	2		2	KERA	12	91449450	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77523	91449450	42402445	13215	15361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	519					0	0	1	0	0	G	91449741	T	G	91449741	3	3	22	1	0	0	0	0	1	0	0	0	8186	1838	64	3	748	3	KERA	12	91449741	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	291	91449741	42402154	13216	15362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	207					0	0	1	0	0	G	91450049	T	G	91450049	3	3	22	1	0	0	0	0	1	0	0	0	8186	1696	59	3	1056	3	KERA	12	91450049	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	308	91450049	42401846	13217	15363											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	573					0	0	1	0	0	C	91502072	T	C	91502072	3	2	22	1	0	0	0	0	1	0	0	0	9130	1754	61	3	339	3	LUM	12	91502072	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	52023	91502072	42349823	13218	15364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000456569.2_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.A259D|DCN_ENST00000303320.3_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.A150D|DCN_ENST00000552962.1_Missense_Mutation_p.A259D|DCN_ENST00000425043.1_Missense_Mutation_p.A112D|DCN_ENST00000228329.5_Missense_Mutation_p.A150D|DCN_ENST00000441303.2_Intron	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													11	151					6.42651e-13	6.92124e-13	1	1	0	T	91545540	G	T	91545540	3	4	22	1	0	0	0	0	1	0	0	0	4320	971	34	2	311	2	DCN	12	91545540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43468	91545540	42306355	13219	15365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003557.2	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													26	125					0	0	1	0	0	C	93196191	T	C	93196191	3	2	22	1	0	0	0	0	1	0	0	0	4947	1406	49	3	1620	3	EEA1	12	93196191	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1650651	93196191	40655704	13220	15366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003557.2	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													40	358					2.95478e-19	3.29235e-19	1	1	0	A	93206839	C	A	93206839	3	1	22	1	0	0	0	0	1	0	0	0	4947	797	28	2	2331	2	EEA1	12	93206839	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10648	93206839	40645056	13221	15367											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003557.2	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													98	486					0	0	1	0	0	T	93226446	C	T	93226446	3	4	22	1	0	0	0	0	1	0	0	0	4947	922	32	2	3215	2	EEA1	12	93226446	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19607	93226446	40625449	13222	15368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	187					0	0	1	0	0	A	94072579	G	A	94072579	3	1	22	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	13223	15369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	237					0	0	1	0	0	A	94072626	G	A	94072626	3	1	22	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	13224	15370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000547057.1_Missense_Mutation_p.V271A|RP11-1105G2.3_ENST00000551941.1_Intron|PLXNC1_ENST00000545312.1_5'UTR	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													56	228					0	0	1	0	0	C	94673321	T	C	94673321	3	2	22	1	0	0	0	0	1	0	0	0	12174	1725	60	3	3757	3	PLXNC1	12	94673321	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	600695	94673321	39178574	13225	15371											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													145	584					1.91924e-68	2.4338e-68	1	1	0	T	94725559	G	T	94725559	3	4	22	1	0	0	0	0	1	0	0	0	2832	971	34	2	497	2	CCDC41	12	94725559	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52238	94725559	39126336	13226	15372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_065749.2	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													79	337					0	0	1	0	0	T	94976014	C	T	94976014	3	4	22	1	0	0	0	0	1	0	0	0	16054	768	27	1	1066	1	TMCC3	12	94976014	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	250455	94976014	38875881	13227	15373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_065749.2	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													144	655					0	0	1	0	0	T	94976125	C	T	94976125	3	4	22	1	0	0	0	0	1	0	0	0	16054	884	31	1	1177	1	TMCC3	12	94976125	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111	94976125	38875770	13228	15374											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													172	849					3.62647e-66	4.58788e-66	1	1	0	T	95416132	G	T	95416132	3	4	22	1	0	0	0	0	1	0	0	0	10670	971	34	2	130	2	NR2C1	12	95416132	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	440007	95416132	38435763	13229	15375											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	149					0	0	1	0	0	G	95422177	A	G	95422177	3	3	22	1	0	0	0	0	1	0	0	0	10670	391	14	3	306	3	NR2C1	12	95422177	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6045	95422177	38429718	13230	15376											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	200					0	0	1	0	0	T	95422292	A	T	95422292	3	4	22	1	0	0	0	0	1	0	0	0	10670	275	10	5	421	5	NR2C1	12	95422292	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	115	95422292	38429603	13231	15377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Silent_p.D118D	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													26	162					0	0	1	0	0	A	95453692	G	A	95453692	2	1	22	1	0	0	0	0	0	0	0	1	10670	1368	48	2		2	NR2C1	12	95453692	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31400	95453692	38398203	13232	15378											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000549499.1_Missense_Mutation_p.A745V|FGD6_ENST00000546711.1_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													43	422					0	0	1	0	0	A	95602826	G	A	95602826	3	1	22	1	0	0	0	0	1	0	0	0	5870	1319	46	2	2138	2	FGD6	12	95602826	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149134	95602826	38249069	13233	15379											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	223					0	0	1	0	0	C	95922698	A	C	95922698	4	2	22	1	0	0	0	0	0	1	0	0	17135	340	12	3	645	3	USP44	12	95922698	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	319872	95922698	37929197	13234	15380											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	593					1.1804e-14	1.28451e-14	1	1	0	T	96131853	G	T	96131853	3	4	22	1	0	0	0	0	1	0	0	0	10750	962	34	2	1263	2	NTN4	12	96131853	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	209155	96131853	37720042	13235	15381											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541929.1_Missense_Mutation_p.S18F|HAL_ENST00000538703.1_Missense_Mutation_p.S226F	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													120	463					0	0	1	0	0	A	96386496	G	A	96386496	3	1	22	1	0	0	0	0	1	0	0	0	6988	1174	41	2	1348	2	HAL	12	96386496	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	254643	96386496	37465399	13236	15382											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000552789.1_Nonsense_Mutation_p.E248*|LTA4H_ENST00000413268.2_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													45	155					2.24722e-20	2.51766e-20	1	1	0	A	96412579	C	A	96412579	4	1	22	1	0	0	0	0	0	1	0	0	9114	864	30	2	1069	2	LTA4H	12	96412579	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26083	96412579	37439316	13237	15383											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000552789.1_Silent_p.L196L|LTA4H_ENST00000413268.2_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													73	315					0	0	1	0	0	G	96412999	A	G	96412999	2	3	22	1	0	0	0	0	0	0	0	1	9114	11	1	3		3	LTA4H	12	96412999	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	420	96412999	37438896	13238	15384											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													129	681					0	0	1	0	0	T	96641197	C	T	96641197	2	4	22	1	0	0	0	0	0	0	0	1	5088	535	19	1		1	ELK3	12	96641197	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	228198	96641197	37210698	13239	15385											
C12orf63	0	broad.mit.edu	37	chr12	97147575	97147575	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaaggaaggacccctcgaAgtggttacctgctcttcatc	9	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:97147575A>C	ENST00000524981.3	+	23	3092	c.3092A>C	c.(3091-3093)aAg>aCg	p.K1031T				Q6ZTY8	CL063_HUMAN		1005										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GACCCCTCGAAGTGGTTACCT	0.423													89	415					0	0	1	0	0	C	97147575	A	C	97147575	3	2	22	1	0	0	0	0	1	0	0	0	1712	72	3	3	3100	3	C12orf63	12	97147575	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	506378	97147575	36704320	13240	15386											
C12orf63	0	broad.mit.edu	37	chr12	97157959	97157959	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaagaagtagttctgttaaaGaaacatcagcaaataaattt	7	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:97157959G>A	ENST00000524981.3	+	26	3424	c.3424G>A	c.(3424-3426)Gaa>Aaa	p.E1142K				Q6ZTY8	CL063_HUMAN		1116										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTCTGTTAAAGAAACATCAGC	0.333													21	135					0	0	1	0	0	A	97157959	G	A	97157959	3	1	22	1	0	0	0	0	1	0	0	0	1712	943	33	2	3444	2	C12orf63	12	97157959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10384	97157959	36693936	13241	15387											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266742.4_5'UTR|NEDD1_ENST00000411739.2_Intron	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													54	215					0	0	1	0	0	A	97303532	G	A	97303532	3	1	22	1	0	0	0	0	1	0	0	0	10356	1087	38	1	22	1	NEDD1	12	97303532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145573	97303532	36548363	13242	15388											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000261210.5_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_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													13	567					1.3612e-06	1.40558e-06	1	1	0	A	98926730	C	A	98926730	3	1	22	1	0	0	0	0	1	0	0	0	16297	681	24	2	709	2	TMPO	12	98926730	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1623198	98926730	34925165	13243	15389											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000261210.5_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_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													64	292					0	0	1	0	0	G	98927591	A	G	98927591	3	3	22	1	0	0	0	0	1	0	0	0	16297	14	1	3	1570	3	TMPO	12	98927591	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	861	98927591	34924304	13244	15390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393053.2_Missense_Mutation_p.R256I|TMPO_ENST00000343315.5_Missense_Mutation_p.R325I	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													57	256					2.53126e-37	3.03882e-37	1	1	0	T	98941365	G	T	98941365	3	4	22	1	0	0	0	0	1	0	0	0	16297	942	33	2	2652	2	TMPO	12	98941365	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13774	98941365	34910530	13245	15391											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000333991.1_Missense_Mutation_p.R228H|APAF1_ENST00000359972.2_Missense_Mutation_p.R217H|APAF1_ENST00000339433.3_Missense_Mutation_p.R228H|APAF1_ENST00000549007.1_Missense_Mutation_p.R228H|APAF1_ENST00000551964.1_Missense_Mutation_p.R228H|APAF1_ENST00000552268.1_Missense_Mutation_p.R228H|APAF1_ENST00000550527.1_Missense_Mutation_p.R217H|APAF1_ENST00000547045.1_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													72	340					0	0	1	0	0	A	99053094	G	A	99053094	3	1	22	1	0	0	0	0	1	0	0	0	751	1087	38	1	697	1	APAF1	12	99053094	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111729	99053094	34798801	13246	15392											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000333991.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.V313I|APAF1_ENST00000339433.3_Missense_Mutation_p.V324I|APAF1_ENST00000549007.1_Missense_Mutation_p.V324I|APAF1_ENST00000551964.1_Missense_Mutation_p.V324I|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000550527.1_Missense_Mutation_p.V313I|APAF1_ENST00000547045.1_Missense_Mutation_p.V324I	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													135	581					0	0	1	0	0	A	99059345	G	A	99059345	3	1	22	1	0	0	0	0	1	0	0	0	751	1029	36	2	996	2	APAF1	12	99059345	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6251	99059345	34792550	13247	15393											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000333991.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.D667N|APAF1_ENST00000339433.3_Missense_Mutation_p.D678N|APAF1_ENST00000549007.1_Missense_Mutation_p.D678N|APAF1_ENST00000551964.1_Missense_Mutation_p.D678N|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000550527.1_Missense_Mutation_p.D667N|APAF1_ENST00000547045.1_Missense_Mutation_p.D678N	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													27	124					0	0	1	0	0	A	99074166	G	A	99074166	3	1	22	1	0	0	0	0	1	0	0	0	751	1174	41	2	2082	2	APAF1	12	99074166	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14821	99074166	34777729	13248	15394											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000547446.1_Splice_Site|ANKS1B_ENST00000329257.7_Splice_Site|ANKS1B_ENST00000547010.1_Splice_Site|ANKS1B_ENST00000547776.2_Splice_Site|ANKS1B_ENST00000332712.7_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000549025.2_Splice_Site|ANKS1B_ENST00000549493.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000549558.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000546960.1_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000546568.1_Nonsense_Mutation_p.G33*	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													55	197					2.73381e-35	3.26223e-35	1	1	0	A	99548174	C	A	99548174	4	1	22	1	0	0	0	0	0	1	0	0	683	695	24	2	1566	2	ANKS1B	12	99548174	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	474008	99548174	34303721	13249	15395											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	239					0	0	1	0	0	C	99837462	T	C	99837462	3	2	22	1	0	0	0	0	1	0	0	0	683	1464	51	3	2534	3	ANKS1B	12	99837462	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	289288	99837462	34014433	13250	15396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	318					0	0	1	0	0	T	100444940	C	T	100444940	3	4	22	1	0	0	0	0	1	0	0	0	17029	710	25	2	934	2	UHRF1BP1L	12	100444940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	607478	100444940	33406955	13251	15397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	86					1.12685e-05	1.15515e-05	1	1	0	A	100550600	C	A	100550600	1	1	22	0	1	0	0	0	0	0	0	0	6595	696	24	2		2	GOLGA2B	12	100550600	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105660	100550600	33301295	13252	15398											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	192					0	0	1	0	0	T	100656045	C	T	100656045	3	4	22	1	0	0	0	0	1	0	0	0	4469	922	32	2	199	2	DEPDC4	12	100656045	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105445	100656045	33195850	13253	15399											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	213					0.00116845	0.00118049	1	1	0	A	100707216	C	A	100707216	3	1	22	1	0	0	0	0	1	0	0	0	14002	913	32	2	891	2	SCYL2	12	100707216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51171	100707216	33144679	13254	15400											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	294					0	0	1	0	0	T	100723037	C	T	100723037	2	4	22	1	0	0	0	0	0	0	0	1	14002	639	23	1		1	SCYL2	12	100723037	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15821	100723037	33128858	13255	15401											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	262					0	0	1	0	0	T	100797876	C	T	100797876	4	4	22	1	0	0	0	0	0	1	0	0	14478	479	17	2	1148	2	SLC17A8	12	100797876	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74839	100797876	33054019	13256	15402											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	522					1.43847e-43	1.75646e-43	1	1	0	T	100806634	G	T	100806634	4	4	22	1	0	0	0	0	0	1	0	0	14478	1001	35	2	1311	2	SLC17A8	12	100806634	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8758	100806634	33045261	13257	15403											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000188403.7_Missense_Mutation_p.P316T|NR1H4_ENST00000549996.1_Missense_Mutation_p.P259T|NR1H4_ENST00000551379.1_Missense_Mutation_p.P320T	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													89	445					1.55023e-36	1.85648e-36	1	1	0	A	100930822	C	A	100930822	3	1	22	1	0	0	0	0	1	0	0	0	10667	507	18	2	938	2	NR1H4	12	100930822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124188	100930822	32921073	13258	15404											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000547754.1_Missense_Mutation_p.R231Q|GAS2L3_ENST00000539410.1_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													54	186					0	0	1	0	0	A	101016096	G	A	101016096	3	1	22	1	0	0	0	0	1	0	0	0	6288	1058	37	1	718	1	GAS2L3	12	101016096	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85274	101016096	32835799	13259	15405											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000547754.1_Missense_Mutation_p.K291Q|GAS2L3_ENST00000539410.1_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													100	418					0	0	1	0	0	C	101017454	A	C	101017454	3	2	22	1	0	0	0	0	1	0	0	0	6288	15	1	3	901	3	GAS2L3	12	101017454	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1358	101017454	32834441	13260	15406											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000547754.1_Missense_Mutation_p.T311P|GAS2L3_ENST00000539410.1_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													33	368					0	0	1	0	0	C	101017514	A	C	101017514	3	2	22	1	0	0	0	0	1	0	0	0	6288	43	2	3	961	3	GAS2L3	12	101017514	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60	101017514	32834381	13261	15407											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392979.3_5'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_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)			51	544					0	0	1	0	0	T	101295517	C	T	101295517	3	4	22	1	0	0	0	0	1	0	0	0	693	696	24	2		2	ANO4	12	101295517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	278003	101295517	32556378	13262	15408											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538618.1_Missense_Mutation_p.V181G|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.V15G	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)			101	456					0	0	1	0	0	G	101295607	T	G	101295607	3	3	22	1	0	0	0	0	1	0	0	0	693	1667	58	3	46	3	ANO4	12	101295607	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	90	101295607	32556288	13263	15409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538618.1_Missense_Mutation_p.R284Q|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.R118Q	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)			13	750					0	0	1	0	0	A	101336210	G	A	101336210	3	1	22	1	0	0	0	0	1	0	0	0	693	1058	37	1	258	1	ANO4	12	101336210	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40603	101336210	32515685	13264	15410											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Nonsense_Mutation_p.W356*	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)			64	245					0	0	1	0	0	A	101436160	G	A	101436160	4	1	22	1	0	0	0	0	0	1	0	0	693	1270	44	2	1001	2	ANO4	12	101436160	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99950	101436160	32415735	13265	15411											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	93					5.01169e-05	5.1097e-05	1	1	0	A	101560474	C	A	101560474	3	1	22	1	0	0	0	0	1	0	0	0	14726	797	28	2	524	2	SLC5A8	12	101560474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124314	101560474	32291421	13266	15412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101576692T>C	ENST00000536262.2	-	9	1612	c.1052_splice	c.e9-1	p.T352_splice		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													29	255					0	0	1	0	0	C	101576692	T	C	101576692	5	2	22	1	0	0	0	0	0	0	1	0	14726	1710	59	3	806	3	SLC5A8	12	101576692	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16218	101576692	32275203	13267	15413											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	432					0	0	1	0	0	T	101584320	C	T	101584320	4	4	22	1	0	0	0	0	0	1	0	0	14726	856	30	2	1113	2	SLC5A8	12	101584320	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7628	101584320	32267575	13268	15414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	431					0.000157383	0.000159814	1	1	0	A	101684568	C	A	101684568	3	1	22	1	0	0	0	0	1	0	0	0	17159	507	18	2	823	2	UTP20	12	101684568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100248	101684568	32167327	13269	15415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	99					2.08457e-15	2.27777e-15	1	1	0	A	101689296	C	A	101689296	4	1	22	1	0	0	0	0	0	1	0	0	17159	805	28	2	1336	2	UTP20	12	101689296	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4728	101689296	32162599	13270	15416											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	435					0	0	1	0	0	G	101731892	T	G	101731892	2	3	22	1	0	0	0	0	0	0	0	1	17159	1828	64	3		3	UTP20	12	101731892	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42596	101731892	32120003	13271	15417											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	579					0	0	1	0	0	T	101760367	C	T	101760367	2	4	22	1	0	0	0	0	0	0	0	1	17159	912	32	2		2	UTP20	12	101760367	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28475	101760367	32091528	13272	15418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MYBPC1_ENST00000551300.1_Silent_p.C206C|MYBPC1_ENST00000360610.2_Silent_p.C305C|MYBPC1_ENST00000392934.3_Silent_p.C292C|MYBPC1_ENST00000452455.2_Silent_p.C305C|MYBPC1_ENST00000361466.2_Silent_p.C330C|MYBPC1_ENST00000545503.2_Silent_p.C305C|MYBPC1_ENST00000547405.1_Silent_p.C279C|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000541119.1_Silent_p.C293C|MYBPC1_ENST00000550270.1_Silent_p.C305C|MYBPC1_ENST00000547509.1_Silent_p.C291C|MYBPC1_ENST00000441232.1_Silent_p.C305C|MYBPC1_ENST00000553190.1_Silent_p.C305C|MYBPC1_ENST00000361685.2_Silent_p.C330C|MYBPC1_ENST00000536007.1_Silent_p.C286C|MYBPC1_ENST00000550501.1_Intron|RP11-755O11.2_ENST00000547027.1_RNA			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													40	198					0	0	1	0	0	T	102040565	C	T	102040565	2	4	22	1	0	0	0	0	0	0	0	1	10059	747	26	2		2	MYBPC1	12	102040565	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	280198	102040565	31811330	13273	15419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360610.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R697M|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R735M|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R684M|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R698M|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R696M|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R735M|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R691M|MYBPC1_ENST00000550501.1_Intron			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													86	307					1.55023e-36	1.85648e-36	1	1	0	T	102056307	G	T	102056307	3	4	22	1	0	0	0	0	1	0	0	0	10059	1000	35	2	2286	2	MYBPC1	12	102056307	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15742	102056307	31795588	13274	15420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360610.2_Missense_Mutation_p.S890A|MYBPC1_ENST00000392934.3_Missense_Mutation_p.S859A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.S890A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.S897A|MYBPC1_ENST00000545503.2_Missense_Mutation_p.S872A|MYBPC1_ENST00000547405.1_Missense_Mutation_p.S846A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.S860A|MYBPC1_ENST00000550270.1_Missense_Mutation_p.S890A|MYBPC1_ENST00000547509.1_Missense_Mutation_p.S858A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.S890A|MYBPC1_ENST00000553190.1_Missense_Mutation_p.S872A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.S897A|MYBPC1_ENST00000536007.1_Missense_Mutation_p.S853A|MYBPC1_ENST00000550501.1_Intron			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													164	745					0	0	1	0	0	G	102067280	T	G	102067280	3	3	22	1	0	0	0	0	1	0	0	0	10059	1551	54	3	2845	3	MYBPC1	12	102067280	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10973	102067280	31784615	13275	15421											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	194					0	0	1	0	0	A	102117041	G	A	102117041	2	1	22	1	0	0	0	0	0	0	0	1	3392	962	34	2		2	CHPT1	12	102117041	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49761	102117041	31734854	13276	15422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													226	926					0	0	1	0	0	G	102158045	A	G	102158045	3	3	22	1	0	0	0	0	1	0	0	0	6587	362	13	3	1156	3	GNPTAB	12	102158045	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41004	102158045	31693850	13277	15423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	460					0	0	1	0	0	A	102159023	G	A	102159023	3	1	22	1	0	0	0	0	1	0	0	0	6587	1174	41	2	2134	2	GNPTAB	12	102159023	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	978	102159023	31692872	13278	15424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	125					1.2644e-06	1.30616e-06	1	1	0	T	103238180	G	T	103238180	2	4	22	1	0	0	0	0	0	0	0	1	11441	929	33	2		2	PAH	12	103238180	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1079157	103238180	30613715	13279	15425											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Splice_Site			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													45	228					0	0	1	0	0	T	103696338	C	T	103696338	5	4	22	1	0	0	0	0	0	0	1	0	1694	695	24	2	455	2	C12orf42	12	103696338	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	458158	103696338	30155557	13280	15426											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000548789.1_5'UTR|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Missense_Mutation_p.P110H			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													12	112					3.07112e-06	3.16074e-06	1	1	0	T	103700054	G	T	103700054	3	4	22	1	0	0	0	0	1	0	0	0	1694	1232	43	2	761	2	C12orf42	12	103700054	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3716	103700054	30151841	13281	15427											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													133	438					0	0	1	0	0	T	103984787	C	T	103984787	3	4	22	1	0	0	0	0	1	0	0	0	15294	913	32	2	200	2	STAB2	12	103984787	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	284733	103984787	29867108	13282	15428											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	238					0	0	1	0	0	T	104015879	C	T	104015879	2	4	22	1	0	0	0	0	0	0	0	1	15294	796	28	2		2	STAB2	12	104015879	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31092	104015879	29836016	13283	15429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	302					0	0	1	0	0	T	104046365	C	T	104046365	3	4	22	1	0	0	0	0	1	0	0	0	15294	797	28	2	1335	2	STAB2	12	104046365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30486	104046365	29805530	13284	15430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	384					0	0	1	0	0	T	104122724	C	T	104122724	3	4	22	1	0	0	0	0	1	0	0	0	15294	838	29	2	5223	2	STAB2	12	104122724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76359	104122724	29729171	13285	15431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	245					0	0	1	0	0	C	104133248	T	C	104133248	5	2	22	1	0	0	0	0	0	0	1	0	15294	1652	57	3	5970	3	STAB2	12	104133248	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10524	104133248	29718647	13286	15432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													332	1035					0	0	1	0	0	A	104157272	G	A	104157272	2	1	22	1	0	0	0	0	0	0	0	1	15294	1103	39	1		1	STAB2	12	104157272	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24024	104157272	29694623	13287	15433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	372					2.14232e-31	2.52235e-31	1	1	0	A	104179235	C	A	104179235	3	1	22	1	0	0	0	0	1	0	0	0	10740	594	21	2	451	2	NT5DC3	12	104179235	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21963	104179235	29672660	13288	15434											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	513					2.23348e-06	2.30073e-06	1	1	0	A	104187733	C	A	104187733	3	1	22	1	0	0	0	0	1	0	0	0	10740	797	28	2	882	2	NT5DC3	12	104187733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8498	104187733	29664162	13289	15435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003299.1	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													68	258					3.57465e-26	4.11543e-26	1	1	0	A	104340598	C	A	104340598	3	1	22	1	0	0	0	0	1	0	0	0	7446	797	28	2	2203	2	HSP90B1	12	104340598	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152865	104340598	29511297	13290	15436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266775.9_Missense_Mutation_p.H394R|TDG_ENST00000542036.1_Missense_Mutation_p.H194R|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					80	426					0	0	1	0	0	G	104380828	A	G	104380828	3	3	22	1	0	0	0	0	1	0	0	0	15784	159	6	3	1231	3	TDG	12	104380828	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40230	104380828	29471067	13291	15437											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													207	835					0	0	1	0	0	C	104461826	A	C	104461826	3	2	22	1	0	0	0	0	1	0	0	0	7034	98	4	3	424	3	HCFC2	12	104461826	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	80998	104461826	29390069	13292	15438											
HCFC2	29915	broad.mit.edu	37	chr12	104487331	104487332	+	Frame_Shift_Ins	INS	-	-	A													atgtggtggatatgctaaggINSaaaaatgaaggtatatggat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104487331_104487332insA	ENST00000229330.4	+	10	1556_1557	c.1452_1453insA	c.(1450-1455)agaaaafs	p.RK484fs	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	484					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						ATATGCTAAGGAAAAATGAAGG	0.312													56	274	---	---	---	---						A	104487332	-	A	104487331	7	5	22	1	0	1	1	0	0	0	0	0	7034	1165	41	0	1490	0	HCFC2	12	104487331	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	25505	104487331	29364564	13293	15439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354940.6_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000526691.1_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													35	131					0	0	1	0	0	A	104697806	G	A	104697806	3	1	22	1	0	0	0	0	1	0	0	0	5015	1087	38	1	96	1	EID3	12	104697806	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	210475	104697806	29154089	13294	15440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	297					0	0	1	0	0	T	105151191	C	T	105151191	2	4	22	1	0	0	0	0	0	0	0	1	3421	535	19	1		1	CHST11	12	105151191	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	453385	105151191	28700704	13295	15441											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	242					0	0	1	0	0	A	105431901	G	A	105431901	3	1	22	1	0	0	0	0	1	0	0	0	492	1029	36	2	670	2	ALDH1L2	12	105431901	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	280710	105431901	28419994	13296	15442											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	373					0	0	1	0	0	T	105462502	C	T	105462502	3	4	22	1	0	0	0	0	1	0	0	0	492	739	26	2	2262	2	ALDH1L2	12	105462502	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30601	105462502	28389393	13297	15443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	426					0	0	1	0	0	G	105582102	T	G	105582102	3	3	22	1	0	0	0	0	1	0	0	0	815	1725	60	3	431	3	APPL2	12	105582102	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	119600	105582102	28269793	13298	15444											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	465					0	0	1	0	0	T	106460674	C	T	106460674	3	4	22	1	0	0	0	0	1	0	0	0	10760	652	23	1	97	1	NUAK1	12	106460674	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	878572	106460674	27391221	13299	15445											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	510					0	0	1	0	0	T	106460686	C	T	106460686	3	4	22	1	0	0	0	0	1	0	0	0	10760	652	23	1	109	1	NUAK1	12	106460686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12	106460686	27391209	13300	15446											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	154					2.23313e-29	2.60816e-29	1	1	0	A	106532208	C	A	106532208	3	1	22	1	0	0	0	0	1	0	0	0	10760	681	24	2	1789	2	NUAK1	12	106532208	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71522	106532208	27319687	13301	15447											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													145	676					1.02229e-66	1.29409e-66	1	1	0	A	106633726	C	A	106633726	3	1	22	1	0	0	0	0	1	0	0	0	3467	912	32	2	927	2	CKAP4	12	106633726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101518	106633726	27218169	13302	15448											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	391					0	0	1	0	0	A	106772100	G	A	106772100	2	1	22	1	0	0	0	0	0	0	0	1	12277	1364	48	2		2	POLR3B	12	106772100	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138374	106772100	27079795	13303	15449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	235					1.61863e-15	1.77026e-15	1	1	0	T	106857272	G	T	106857272	3	4	22	1	0	0	0	0	1	0	0	0	12277	942	33	2	2677	2	POLR3B	12	106857272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85172	106857272	26994623	13304	15450											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Silent_p.L1070L	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													68	270					0	0	1	0	0	T	106903307	C	T	106903307	2	4	22	1	0	0	0	0	0	0	0	1	12277	564	20	2		2	POLR3B	12	106903307	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46035	106903307	26948588	13305	15451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	266					0	0	1	0	0	G	107048102	A	G	107048102	2	3	22	1	0	0	0	0	0	0	0	1	13317	40	2	3		3	RFX4	12	107048102	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	144795	107048102	26803793	13306	15452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP11-144F15.1_ENST00000551505.1_Intron|RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000229387.5_Silent_p.V430V	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													129	588					0	0	1	0	0	A	107126802	G	A	107126802	2	1	22	1	0	0	0	0	0	0	0	1	13317	1306	46	2		2	RFX4	12	107126802	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78700	107126802	26725093	13307	15453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	342					0	0	1	0	0	T	107208523	C	T	107208523	3	4	22	1	0	0	0	0	1	0	0	0	13406	478	17	2	192	2	RIC8B	12	107208523	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81721	107208523	26643372	13308	15454											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_004075.3	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													46	235					0	0	1	0	0	A	107393758	G	A	107393758	4	1	22	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	13309	15455											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420571.2_Missense_Mutation_p.Q394H|BTBD11_ENST00000490090.2_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													105	438					4.73232e-52	5.88258e-52	1	1	0	T	107914310	G	T	107914310	3	4	22	1	0	0	0	0	1	0	0	0	1541	962	34	2	1188	2	BTBD11	12	107914310	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	520552	107914310	25937585	13310	15456											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420571.2_Missense_Mutation_p.E482K|BTBD11_ENST00000490090.2_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													7	272					0	0	1	0	0	A	107937870	G	A	107937870	3	1	22	1	0	0	0	0	1	0	0	0	1541	1175	41	2	1454	2	BTBD11	12	107937870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23560	107937870	25914025	13311	15457											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420571.2_Silent_p.E487E|BTBD11_ENST00000490090.2_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													44	197					0	0	1	0	0	A	107937887	G	A	107937887	2	1	22	1	0	0	0	0	0	0	0	1	1541	962	34	2		2	BTBD11	12	107937887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	107937887	25914008	13312	15458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420571.2_Nonsense_Mutation_p.C725*|BTBD11_ENST00000490090.2_Nonsense_Mutation_p.C844*	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													73	202					2.47556e-37	2.97223e-37	1	1	0	A	108013842	C	A	108013842	4	1	22	1	0	0	0	0	0	1	0	0	1541	805	28	2	2679	2	BTBD11	12	108013842	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75955	108013842	25838053	13313	15459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357167.4_Missense_Mutation_p.L604M|BTBD11_ENST00000494235.2_Missense_Mutation_p.L146M|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													88	292					2.3666e-43	2.88907e-43	1	1	0	A	108051379	C	A	108051379	3	1	22	1	0	0	0	0	1	0	0	0	1541	680	24	2	3370	2	BTBD11	12	108051379	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37537	108051379	25800516	13314	15460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	334					0	0	1	0	0	A	108082406	G	A	108082406	3	1	22	1	0	0	0	0	1	0	0	0	12895	1203	42	2	156	2	PWP1	12	108082406	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31027	108082406	25769489	13315	15461											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	191					0	0	1	0	0	A	108082504	G	A	108082504	3	1	22	1	0	0	0	0	1	0	0	0	12895	943	33	2	254	2	PWP1	12	108082504	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98	108082504	25769391	13316	15462											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													166	608					0	0	1	0	0	A	108128027	G	A	108128027	3	1	22	1	0	0	0	0	1	0	0	0	12511	971	34	2	43	2	PRDM4	12	108128027	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45523	108128027	25723868	13317	15463											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	317					0	0	1	0	0	A	108145246	G	A	108145246	4	1	22	1	0	0	0	0	0	1	0	0	12511	1328	46	2	1365	2	PRDM4	12	108145246	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17219	108145246	25706649	13318	15464											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	47					0	0	1	0	0	T	108169235	C	T	108169235	2	4	22	1	0	0	0	0	0	0	0	1	1035	755	27	1		1	ASCL4	12	108169235	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23989	108169235	25682660	13319	15465											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000547525.1_Missense_Mutation_p.G376D|WSCD2_ENST00000549903.1_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													42	186					0	0	1	0	0	A	108626655	G	A	108626655	3	1	22	1	0	0	0	0	1	0	0	0	17467	1203	42	2	1149	2	WSCD2	12	108626655	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	457420	108626655	25225240	13320	15466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108686528T>A	ENST00000397688.2	-	3	575	c.206A>T	c.(205-207)aAg>aTg	p.K69M	CMKLR1_ENST00000550402.1_Missense_Mutation_p.K71M|CMKLR1_ENST00000552995.1_Missense_Mutation_p.K69M|CMKLR1_ENST00000412676.1_Missense_Mutation_p.K71M|CMKLR1_ENST00000312143.7_Missense_Mutation_p.K71M	NM_004072.2	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													74	301					0	0	1	0	0	A	108686528	T	A	108686528	3	1	22	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	13321	15467											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	249					0	0	1	0	0	T	108913102	C	T	108913102	2	4	22	1	0	0	0	0	0	0	0	1	5920	755	27	1		1	FICD	12	108913102	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	226574	108913102	24938793	13322	15468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	534					0	0	1	0	0	A	109181823	G	A	109181823	3	1	22	1	0	0	0	0	1	0	0	0	15240	1261	44	2	62	2	SSH1	12	109181823	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	268721	109181823	24670072	13323	15469											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000326470.5_Missense_Mutation_p.E201K|SSH1_ENST00000551165.1_Missense_Mutation_p.E190K|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													50	208					0	0	1	0	0	T	109201572	C	T	109201572	3	4	22	1	0	0	0	0	1	0	0	0	15240	893	31	1	2799	1	SSH1	12	109201572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19749	109201572	24650323	13324	15470											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109205098G>T	ENST00000360239.3	-	0	494				SSH1_ENST00000326470.5_Missense_Mutation_p.S147R|SSH1_ENST00000551165.1_Missense_Mutation_p.S136R|SSH1_ENST00000546812.1_5'UTR|SSH1_ENST00000326495.5_Missense_Mutation_p.S136R			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													6	313					0.00198382	0.00200138	1	1	0	T	109205098	G	T	109205098	1	4	22	1	0	0	0	0	0	0	0	0	15240	962	34	2		2	SSH1	12	109205098	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3526	109205098	24646797	13325	15471											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	569					0	0	1	0	0	A	109278930	G	A	109278930	3	1	22	1	0	0	0	0	1	0	0	0	4255	1116	39	1	150	1	DAO	12	109278930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73832	109278930	24572965	13326	15472											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	107					0	0	1	0	0	A	109293208	G	A	109293208	3	1	22	1	0	0	0	0	1	0	0	0	4255	1116	39	1	903	1	DAO	12	109293208	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14278	109293208	24558687	13327	15473											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													159	689					0	0	1	0	0	T	109332674	C	T	109332674	2	4	22	1	0	0	0	0	0	0	0	1	15479	768	27	1		1	SVOP	12	109332674	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39466	109332674	24519221	13328	15474											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	293					0	0	1	0	0	A	109523652	G	A	109523652	2	1	22	1	0	0	0	0	0	0	0	1	17121	1364	48	2		2	USP30	12	109523652	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190978	109523652	24328243	13329	15475											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					157	714					0	0	1	0	0	T	109530459	C	T	109530459	3	4	22	1	0	0	0	0	1	0	0	0	523	739	26	2	664	2	ALKBH2	12	109530459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6807	109530459	24321436	13330	15476											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													199	912					0	0	1	0	0	A	109577565	G	A	109577565	3	1	22	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	13331	15477											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	322					0	0	1	0	0	A	109604757	G	A	109604757	3	1	22	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	13332	15478											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	258					0	0	1	0	0	A	109605787	G	A	109605787	2	1	22	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	13333	15479											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	229					0	0	1	0	0	A	109629664	G	A	109629664	3	1	22	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	13334	15480											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	315					0	0	1	0	0	T	109637233	C	T	109637233	3	4	22	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	13335	15481											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	417					0	0	1	0	0	A	109637282	G	A	109637282	2	1	22	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	13336	15482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	523					0	0	1	0	0	A	109644617	G	A	109644617	3	1	22	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	13337	15483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377848.3_Missense_Mutation_p.R1490H|ACACB_ENST00000543201.1_Missense_Mutation_p.R156H|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													123	506					0	0	1	0	0	A	109674992	G	A	109674992	3	1	22	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	13338	15484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000338432.7_Intron|ACACB_ENST00000377854.5_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													269	741					0	0	1	0	0	G	109697952	A	G	109697952	4	3	22	1	0	0	0	0	0	0	0	0	107	290	10	3		3	ACACB	12	109697952	Nonstop_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22960	109697952	24153943	13339	15485											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	114					0	0	1	0	0	T	109719515	C	T	109719515	3	4	22	1	0	0	0	0	1	0	0	0	6056	768	27	1	570	1	FOXN4	12	109719515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21563	109719515	24132380	13340	15486											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	161					0	0	1	0	0	T	109723184	C	T	109723184	3	4	22	1	0	0	0	0	1	0	0	0	6056	884	31	1	739	1	FOXN4	12	109723184	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3669	109723184	24128711	13341	15487											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	190					2.0095e-06	2.07161e-06	1	1	0	A	109843753	C	A	109843753	2	1	22	1	0	0	0	0	0	0	0	1	10123	900	32	2		2	MYO1H	12	109843753	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120569	109843753	24008142	13342	15488											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													145	490					0	0	1	0	0	T	109959007	C	T	109959007	3	4	22	1	0	0	0	0	1	0	0	0	16941	652	23	1	2201	1	UBE3B	12	109959007	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115254	109959007	23892888	13343	15489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535089.1_5'UTR|UBE3B_ENST00000434735.2_Silent_p.S901S	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													163	489					0	0	1	0	0	T	109967770	C	T	109967770	2	4	22	1	0	0	0	0	0	0	0	1	16941	767	27	1		1	UBE3B	12	109967770	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8763	109967770	23884125	13344	15490											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392727.3_Missense_Mutation_p.S171F|MVK_ENST00000539696.1_Intron|MVK_ENST00000539575.1_Missense_Mutation_p.S171F|MVK_ENST00000541384.1_Missense_Mutation_p.S29F	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													13	250					0	0	1	0	0	T	110024595	C	T	110024595	3	4	22	1	0	0	0	0	1	0	0	0	10043	855	30	2	690	2	MVK	12	110024595	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56825	110024595	23827300	13345	15491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536838.1_Missense_Mutation_p.R723H|TRPV4_ENST00000261740.2_Missense_Mutation_p.R757H|TRPV4_ENST00000346520.2_Missense_Mutation_p.R697H|TRPV4_ENST00000537083.1_Missense_Mutation_p.R697H|TRPV4_ENST00000544971.1_Missense_Mutation_p.R650H|TRPV4_ENST00000541794.1_Missense_Mutation_p.R710H|TRPV4_ENST00000392719.2_Missense_Mutation_p.R710H	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													11	323					0	0	1	0	0	T	110224581	C	T	110224581	3	4	22	1	0	0	0	0	1	0	0	0	16659	768	27	1	357	1	TRPV4	12	110224581	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199986	110224581	23627314	13346	15492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536838.1_Silent_p.I123I|TRPV4_ENST00000261740.2_Silent_p.I157I|TRPV4_ENST00000346520.2_Silent_p.I157I|TRPV4_ENST00000537083.1_Silent_p.I157I|TRPV4_ENST00000544971.1_Silent_p.I157I|TRPV4_ENST00000541794.1_Silent_p.I157I|TRPV4_ENST00000392719.2_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													73	264					0	0	1	0	0	A	110246189	G	A	110246189	2	1	22	1	0	0	0	0	0	0	0	1	16659	1048	37	1		1	TRPV4	12	110246189	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21608	110246189	23605706	13347	15493											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	GIT2_ENST00000361006.5_Missense_Mutation_p.S490P|GIT2_ENST00000457474.2_Missense_Mutation_p.S442P|GIT2_ENST00000354574.4_Missense_Mutation_p.S442P|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000343646.5_Missense_Mutation_p.S410P|GIT2_ENST00000355312.3_Missense_Mutation_p.S490P|GIT2_ENST00000551209.1_Missense_Mutation_p.S439P|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000547815.1_3'UTR			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													91	432					0	0	1	0	0	G	110385234	A	G	110385234	3	3	22	1	0	0	0	0	1	0	0	0	6439	246	9	3	835	3	GIT2	12	110385234	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	139045	110385234	23466661	13348	15494											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	219					0	0	1	0	0	T	110450942	C	T	110450942	3	4	22	1	0	0	0	0	1	0	0	0	637	797	28	2	252	2	ANKRD13A	12	110450942	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65708	110450942	23400953	13349	15495											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	949					0	0	1	0	0	C	110765515	T	C	110765515	3	2	22	1	0	0	0	0	1	0	0	0	1136	1667	58	3	818	3	ATP2A2	12	110765515	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	314573	110765515	23086380	13350	15496											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													165	628					0	0	1	0	0	T	110778497	C	T	110778497	2	4	22	1	0	0	0	0	0	0	0	1	1136	796	28	2		2	ATP2A2	12	110778497	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12982	110778497	23073398	13351	15497											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	184					0	0	1	0	0	T	110784169	C	T	110784169	3	4	22	1	0	0	0	0	1	0	0	0	1136	893	31	1	3101	1	ATP2A2	12	110784169	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5672	110784169	23067726	13352	15498											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	243					1.97301e-41	2.39674e-41	1	1	0	A	110784227	C	A	110784227	2	1	22	1	0	0	0	0	0	0	0	1	1136	903	32	2		2	ATP2A2	12	110784227	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58	110784227	23067668	13353	15499											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392672.4_Missense_Mutation_p.S354G|RAD9B_ENST00000409425.1_Missense_Mutation_p.S282G|RAD9B_ENST00000409300.1_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													38	86					0	0	1	0	0	G	110960151	A	G	110960151	3	3	22	1	0	0	0	0	1	0	0	0	13048	188	7	3	1098	3	RAD9B	12	110960151	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	175924	110960151	22891744	13354	15500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397659.4_Missense_Mutation_p.V347I|TCTN1_ENST00000397655.3_Missense_Mutation_p.V333I|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000377654.3_Missense_Mutation_p.V169I			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													124	589					0	0	1	0	0	A	111078889	G	A	111078889	3	1	22	1	0	0	0	0	1	0	0	0	15781	1145	40	1	1245	1	TCTN1	12	111078889	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118738	111078889	22773006	13355	15501											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000552694.1_Missense_Mutation_p.N96T|CCDC63_ENST00000550317.1_Intron|CCDC63_ENST00000545036.1_Missense_Mutation_p.N135T	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													226	609					0	0	1	0	0	C	111317744	A	C	111317744	3	2	22	1	0	0	0	0	1	0	0	0	2854	101	4	3	542	3	CCDC63	12	111317744	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	238855	111317744	22534151	13356	15502											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	662					0	0	1	0	0	A	111348974	G	A	111348974	2	1	22	1	0	0	0	0	0	0	0	1	10095	1252	44	2		2	MYL2	12	111348974	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31230	111348974	22502921	13357	15503											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	153					0	0	1	0	0	T	111749924	C	T	111749924	3	4	22	1	0	0	0	0	1	0	0	0	4088	652	23	1	1983	1	CUX2	12	111749924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	400950	111749924	22101971	13358	15504											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	104					0	0	1	0	0	T	111758430	C	T	111758430	3	4	22	1	0	0	0	0	1	0	0	0	4088	739	26	2	2683	2	CUX2	12	111758430	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8506	111758430	22093465	13359	15505											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	97					0	0	1	0	0	A	111758478	G	A	111758478	3	1	22	1	0	0	0	0	1	0	0	0	4088	1059	37	1	2731	1	CUX2	12	111758478	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	111758478	22093417	13360	15506											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	328					0	0	1	0	0	T	111776115	C	T	111776115	2	4	22	1	0	0	0	0	0	0	0	1	4088	845	30	2		2	CUX2	12	111776115	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17637	111776115	22075780	13361	15507											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	700					0	0	1	0	0	T	111785782	C	T	111785782	4	4	22	1	0	0	0	0	0	1	0	0	4088	760	27	1	4200	1	CUX2	12	111785782	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9667	111785782	22066113	13362	15508											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535949.1_Silent_p.A827A|ATXN2_ENST00000389153.4_Silent_p.A871A|ATXN2_ENST00000550104.1_3'UTR	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													35	245					0	0	1	0	0	T	111895132	C	T	111895132	2	4	22	1	0	0	0	0	0	0	0	1	1209	755	27	1		1	ATXN2	12	111895132	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109350	111895132	21956763	13363	15509											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392636.2_Missense_Mutation_p.S235N|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.S633N|ACAD10_ENST00000313698.4_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													55	320					0	0	1	0	0	A	112182630	G	A	112182630	3	1	22	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	13364	15510											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													129	418					0	0	1	0	0	T	112326328	C	T	112326328	4	4	22	1	0	0	0	0	0	1	0	0	9341	479	17	2	1048	2	MAPKAPK5	12	112326328	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143698	112326328	21525567	13365	15511											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	536					0	0	1	0	0	A	112481532	G	A	112481532	3	1	22	1	0	0	0	0	1	0	0	0	10169	1203	42	2	799	2	NAA25	12	112481532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155204	112481532	21370363	13366	15512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	181					0	0	1	0	0	A	112509715	G	A	112509715	2	1	22	1	0	0	0	0	0	0	0	1	10169	1136	40	1		1	NAA25	12	112509715	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28183	112509715	21342180	13367	15513											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	159					9.59835e-30	1.1228e-29	1	1	0	A	112509748	C	A	112509748	3	1	22	1	0	0	0	0	1	0	0	0	10169	796	28	2	1991	2	NAA25	12	112509748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	112509748	21342147	13368	15514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	278					7.63117e-38	9.17446e-38	1	1	0	T	112579955	G	T	112579955	4	4	22	1	0	0	0	0	0	1	0	0	16508	943	33	2	724	2	TRAFD1	12	112579955	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70207	112579955	21271940	13369	15515											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				85	407					0	0	1	0	0	T	112919958	C	T	112919958	2	4	22	1	0	0	0	0	0	0	0	1	12830	767	27	1		1	PTPN11	12	112919958	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	340003	112919958	20931937	13370	15516											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000548866.1_Silent_p.C525C|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000447659.2_Silent_p.C525C|RPH3A_ENST00000543106.2_Silent_p.C574C|RPH3A_ENST00000551052.1_Silent_p.C570C|RPH3A_ENST00000415485.3_Silent_p.C574C|RPH3A_ENST00000420983.2_Silent_p.C574C	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													47	121					0	0	1	0	0	T	113328755	C	T	113328755	2	4	22	1	0	0	0	0	0	0	0	1	13603	776	27	1		1	RPH3A	12	113328755	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	408797	113328755	20523140	13371	15517											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	112					0	0	1	0	0	T	113405976	C	T	113405976	3	4	22	1	0	0	0	0	1	0	0	0	10849	623	22	2	3155	2	OAS3	12	113405976	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77221	113405976	20445919	13372	15518											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	46					0.00621372	0.0062537	1	1	0	A	113407771	C	A	113407771	3	1	22	1	0	0	0	0	1	0	0	0	10849	797	28	2	3319	2	OAS3	12	113407771	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1795	113407771	20444124	13373	15519											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	113					0	0	1	0	0	T	113496015	C	T	113496015	2	4	22	1	0	0	0	0	0	0	0	1	4819	535	19	1		1	DTX1	12	113496015	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88244	113496015	20355880	13374	15520											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													124	376					0	0	1	0	0	T	113496122	C	T	113496122	3	4	22	1	0	0	0	0	1	0	0	0	4819	739	26	2	127	2	DTX1	12	113496122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107	113496122	20355773	13375	15521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	566					0	0	1	0	0	A	113496220	G	A	113496220	3	1	22	1	0	0	0	0	1	0	0	0	4819	1058	37	1	225	1	DTX1	12	113496220	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98	113496220	20355675	13376	15522											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	114					0	0	1	0	0	A	113534527	G	A	113534527	3	1	22	1	0	0	0	0	1	0	0	0	4819	1116	39	1	1680	1	DTX1	12	113534527	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38307	113534527	20317368	13377	15523											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	379					0.000219431	0.000222766	1	1	0	A	113537779	C	A	113537779	3	1	22	1	0	0	0	0	1	0	0	0	13115	796	28	2	48	2	RASAL1	12	113537779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3252	113537779	20314116	13378	15524											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.R487Q|RASAL1_ENST00000261729.5_Missense_Mutation_p.R487Q	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													49	147					0	0	1	0	0	T	113545942	C	T	113545942	3	4	22	1	0	0	0	0	1	0	0	0	13115	652	23	1	986	1	RASAL1	12	113545942	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8163	113545942	20305953	13379	15525											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.S350L|RASAL1_ENST00000261729.5_Missense_Mutation_p.S350L	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													148	786					0	0	1	0	0	A	113553024	G	A	113553024	3	1	22	1	0	0	0	0	1	0	0	0	13115	1059	37	1	1409	1	RASAL1	12	113553024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7082	113553024	20298871	13380	15526											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.G213D|RASAL1_ENST00000261729.5_Missense_Mutation_p.G213D	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													20	978					0	0	1	0	0	T	113556937	C	T	113556937	3	4	22	1	0	0	0	0	1	0	0	0	13115	739	26	2	1836	2	RASAL1	12	113556937	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3913	113556937	20294958	13381	15527											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000549271.1_5'UTR|DDX54_ENST00000306014.5_Nonsense_Mutation_p.R800*	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													66	296					0	0	1	0	0	A	113599090	G	A	113599090	4	1	22	1	0	0	0	0	0	1	0	0	4395	1095	38	1	258	1	DDX54	12	113599090	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42153	113599090	20252805	13382	15528											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	300					0	0	1	0	0	T	113603721	C	T	113603721	3	4	22	1	0	0	0	0	1	0	0	0	4395	536	19	1	1149	1	DDX54	12	113603721	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4631	113603721	20248174	13383	15529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Missense_Mutation_p.P127L|C12orf52_ENST00000552495.1_Missense_Mutation_p.P151L	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													7	287					0	0	1	0	0	T	113629192	C	T	113629192	3	4	22	1	0	0	0	0	1	0	0	0	1703	652	23	1	386	1	C12orf52	12	113629192	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25471	113629192	20222703	13384	15530											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541517.1_Missense_Mutation_p.G112S|TPCN1_ENST00000335509.6_Missense_Mutation_p.G40S|TPCN1_ENST00000392569.4_5'UTR	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													38	237					0	0	1	0	0	A	113698178	G	A	113698178	3	1	22	1	0	0	0	0	1	0	0	0	16456	1116	39	1	344	1	TPCN1	12	113698178	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68986	113698178	20153717	13385	15531											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541517.1_Missense_Mutation_p.A756T|TPCN1_ENST00000335509.6_Missense_Mutation_p.A684T|TPCN1_ENST00000392569.4_Missense_Mutation_p.A616T	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													9	475					0	0	1	0	0	A	113729700	G	A	113729700	3	1	22	1	0	0	0	0	1	0	0	0	16456	1087	38	1	2364	1	TPCN1	12	113729700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31522	113729700	20122195	13386	15532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													140	796					0	0	1	0	0	A	113810480	G	A	113810480	2	1	22	1	0	0	0	0	0	0	0	1	12074	1103	39	1		1	PLBD2	12	113810480	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80780	113810480	20041415	13387	15533											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	333					0	0	1	0	0	A	113822071	G	A	113822071	5	1	22	1	0	0	0	0	0	0	1	0	12074	1159	40	1	1145	1	PLBD2	12	113822071	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11591	113822071	20029824	13388	15534											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	450					0	0	1	0	0	A	113824778	G	A	113824778	2	1	22	1	0	0	0	0	0	0	0	1	12074	991	35	2		2	PLBD2	12	113824778	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2707	113824778	20027117	13389	15535											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	2362					3.11337e-16	3.41587e-16	1	1	0	A	113825591	C	A	113825591	2	1	22	1	0	0	0	0	0	0	0	1	12074	668	24	2		2	PLBD2	12	113825591	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	813	113825591	20026304	13390	15536											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392561.3_Silent_p.A924A|RBM19_ENST00000261741.5_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													44	109					0	0	1	0	0	A	114282486	G	A	114282486	2	1	22	1	0	0	0	0	0	0	0	1	13173	1103	39	1		1	RBM19	12	114282486	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	456895	114282486	19569409	13391	15537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392561.3_Missense_Mutation_p.T587I|RBM19_ENST00000261741.5_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													67	637					0	0	1	0	0	A	114377943	G	A	114377943	3	1	22	1	0	0	0	0	1	0	0	0	13173	1029	36	2	1162	2	RBM19	12	114377943	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95457	114377943	19473952	13392	15538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392561.3_Missense_Mutation_p.P442T|RBM19_ENST00000261741.5_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													11	340					3.86212e-05	3.93988e-05	1	1	0	T	114385222	G	T	114385222	3	4	22	1	0	0	0	0	1	0	0	0	13173	1261	44	2	1614	2	RBM19	12	114385222	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7279	114385222	19466673	13393	15539											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526441.1_Missense_Mutation_p.R249G|TBX5_ENST00000349716.5_Missense_Mutation_p.R199G	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													7	335					0	0	1	0	0	C	114823291	T	C	114823291	3	2	22	1	0	0	0	0	1	0	0	0	15721	1617	56	3	890	3	TBX5	12	114823291	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	438069	114823291	19028604	13394	15540											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	222					0	0	1	0	0	A	115120759	G	A	115120759	3	1	22	1	0	0	0	0	1	0	0	0	15719	1203	42	2	2016	2	TBX3	12	115120759	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	297468	115120759	18731136	13395	15541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	292					0	0	1	0	0	T	116410035	C	T	116410035	3	4	22	1	0	0	0	0	1	0	0	0	9481	565	20	2	918	2	MED13L	12	116410035	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1289276	116410035	17441860	13396	15542											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	287					0	0	1	0	0	A	116446921	G	A	116446921	3	1	22	1	0	0	0	0	1	0	0	0	9481	1145	40	1	5423	1	MED13L	12	116446921	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36886	116446921	17404974	13397	15543											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	34					0	0	1	0	0	T	116714891	C	T	116714891	3	4	22	1	0	0	0	0	1	0	0	0	9481	855	30	2	6710	2	MED13L	12	116714891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	267970	116714891	17137004	13398	15544											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	507					0	0	1	0	0	A	117013978	G	A	117013978	2	1	22	1	0	0	0	0	0	0	0	1	9282	991	35	2		2	MAP1LC3B2	12	117013978	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299087	117013978	16837917	13399	15545											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	60					0	0	1	0	0	G	117155658	T	G	117155658	3	3	22	1	0	0	0	0	1	0	0	0	1699	1609	56	3	46	3	C12orf49	12	117155658	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	141680	117155658	16696237	13400	15546											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392549.2_Silent_p.A33A|RNFT2_ENST00000407967.3_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													6	26					0	0	1	0	0	A	117187661	G	A	117187661	2	1	22	1	0	0	0	0	0	0	0	1	13554	1074	38	1		1	RNFT2	12	117187661	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32003	117187661	16664234	13401	15547											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541210.1_Missense_Mutation_p.M94I|TESC_ENST00000535198.1_5'UTR|TESC_ENST00000392545.4_Missense_Mutation_p.M174I			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													7	26					0	0	1	0	0	T	117484630	C	T	117484630	3	4	22	1	0	0	0	0	1	0	0	0	15825	478	17	2	297	2	TESC	12	117484630	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	296969	117484630	16367265	13402	15548											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541210.1_Intron|TESC_ENST00000392545.4_Missense_Mutation_p.D121N			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													57	308					0	0	1	0	0	T	117494618	C	T	117494618	3	4	22	1	0	0	0	0	1	0	0	0	15825	884	31	1	466	1	TESC	12	117494618	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9988	117494618	16357277	13403	15549											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													248	905					0	0	1	0	0	A	117595739	G	A	117595739	3	1	22	1	0	0	0	0	1	0	0	0	5766	1087	38	1	421	1	FBXO21	12	117595739	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101121	117595739	16256156	13404	15550											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)	ACTCTACCTGTGCTGGCTGTC	0.582													57	318					0	0	1	0	0	C	117693744	T	C	117693744	3	2	22	1	0	0	0	0	1	0	0	0	10588	1711	59	3		3	NOS1	12	117693744	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	98005	117693744	16158151	13405	15551											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	41					0	0	1	0	0	C	117703293	T	C	117703293	3	2	22	1	0	0	0	0	1	0	0	0	10588	1667	58	3	2412	3	NOS1	12	117703293	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9549	117703293	16148602	13406	15552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	279					0	0	1	0	0	A	117768514	G	A	117768514	3	1	22	1	0	0	0	0	1	0	0	0	10588	1115	39	1	4055	1	NOS1	12	117768514	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65221	117768514	16083381	13407	15553											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	39					0	0	1	0	0	A	117914325	G	A	117914325	2	1	22	1	0	0	0	0	0	0	0	1	8621	1103	39	1		1	KSR2	12	117914325	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145811	117914325	15937570	13408	15554											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_Missense_Mutation_p.S15R|WSB2_ENST00000544233.1_Missense_Mutation_p.S30R|WSB2_ENST00000535496.1_Missense_Mutation_p.S242R|WSB2_ENST00000441406.2_Missense_Mutation_p.S257R	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													116	473					4.16533e-50	5.15817e-50	1	1	0	T	118474256	G	T	118474256	3	4	22	1	0	0	0	0	1	0	0	0	17465	1310	46	2	510	2	WSB2	12	118474256	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	559931	118474256	15377639	13409	15555											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118480730G>T	ENST00000542304.1	-	0	395				WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000315436.3_Missense_Mutation_p.L159M|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000535496.1_Missense_Mutation_p.L161M|WSB2_ENST00000441406.2_Missense_Mutation_p.L176M			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													98	442					3.61922e-38	4.35844e-38	1	1	0	T	118480730	G	T	118480730	1	4	22	1	0	0	0	0	0	0	0	0	17465	933	33	2		2	WSB2	12	118480730	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6474	118480730	15371165	13410	15556											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	400					2.02726e-29	2.36871e-29	1	1	0	T	118829014	G	T	118829014	3	4	22	1	0	0	0	0	1	0	0	0	15423	933	33	2	466	2	SUDS3	12	118829014	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	348284	118829014	15022881	13411	15557											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	206					0	0	1	0	0	T	119559878	C	T	119559878	2	4	22	1	0	0	0	0	0	0	0	1	15227	668	24	2		2	SRRM4	12	119559878	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	730864	119559878	14292017	13412	15558											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	100					0	0	1	0	0	T	119568492	C	T	119568492	2	4	22	1	0	0	0	0	0	0	0	1	15227	726	26	2		2	SRRM4	12	119568492	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8614	119568492	14283403	13413	15559											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	97					0	0	1	0	0	T	119568590	C	T	119568590	3	4	22	1	0	0	0	0	1	0	0	0	15227	652	23	1	752	1	SRRM4	12	119568590	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98	119568590	14283305	13414	15560											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	92					4.26978e-12	4.57227e-12	1	1	0	A	119568613	C	A	119568613	3	1	22	1	0	0	0	0	1	0	0	0	15227	797	28	2	775	2	SRRM4	12	119568613	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23	119568613	14283282	13415	15561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	117					0.00198382	0.00200138	1	1	0	T	119592113	G	T	119592113	3	4	22	1	0	0	0	0	1	0	0	0	15227	942	33	2	1503	2	SRRM4	12	119592113	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23500	119592113	14259782	13416	15562											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	100					0	0	1	0	0	A	119592129	G	A	119592129	2	1	22	1	0	0	0	0	0	0	0	1	15227	1074	38	1		1	SRRM4	12	119592129	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16	119592129	14259766	13417	15563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	278					0	0	1	0	0	T	119631653	C	T	119631653	3	4	22	1	0	0	0	0	1	0	0	0	7467	507	18	2	591	2	HSPB8	12	119631653	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39524	119631653	14220242	13418	15564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	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													220	931					0	0	1	0	0	A	119909945	T	A	119909945	3	1	22	1	0	0	0	0	1	0	0	0	2851	1435	50	5	327	5	CCDC60	12	119909945	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	278292	119909945	13941950	13419	15565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	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													53	241					0	0	1	0	0	A	119916949	G	A	119916949	3	1	22	1	0	0	0	0	1	0	0	0	2851	1087	38	1	406	1	CCDC60	12	119916949	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7004	119916949	13934946	13420	15566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	829					0	0	1	0	0	T	119957964	C	T	119957964	3	4	22	1	0	0	0	0	1	0	0	0	2851	797	28	2	1041	2	CCDC60	12	119957964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41015	119957964	13893931	13421	15567											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	185					0	0	1	0	0	T	119961570	C	T	119961570	2	4	22	1	0	0	0	0	0	0	0	1	2851	767	27	1		1	CCDC60	12	119961570	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3606	119961570	13890325	13422	15568											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120114475C>T	ENST00000229328.5	+	5	1158	c.666_splice	c.e5+1	p.S222_splice	PRKAB1_ENST00000540121.1_Splice_Site_p.S56_splice|PRKAB1_ENST00000541640.1_Splice_Site_p.S222_splice	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													42	170					0	0	1	0	0	T	120114475	C	T	120114475	5	4	22	1	0	0	0	0	0	0	1	0	12547	666	23	1	684	1	PRKAB1	12	120114475	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152905	120114475	13737420	13423	15569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	953					0	0	1	0	0	T	120135797	C	T	120135797	3	4	22	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	13424	15570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	430					0	0	1	0	0	T	120139738	C	T	120139738	3	4	22	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	13425	15571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	150					0	0	1	0	0	T	120168356	C	T	120168356	3	4	22	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	13426	15572											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R831Q	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													263	1007					0	0	1	0	0	T	120195263	C	T	120195263	3	4	22	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	13427	15573											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	259					0	0	1	0	0	A	120436420	G	A	120436420	2	1	22	1	0	0	0	0	0	0	0	1	2855	962	34	2		2	CCDC64	12	120436420	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241157	120436420	13415475	13428	15574											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	517					0	0	1	0	0	T	120502561	C	T	120502561	3	4	22	1	0	0	0	0	1	0	0	0	2855	527	19	1	801	1	CCDC64	12	120502561	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66141	120502561	13349334	13429	15575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_006827.1	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													35	209					0	0	1	0	0	A	120568522	G	A	120568522	2	1	22	1	0	0	0	0	0	0	0	1	6339	958	34	2		2	GCN1L1	12	120568522	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65961	120568522	13283373	13430	15576											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_006827.1	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													111	519					0	0	1	0	0	T	120599349	C	T	120599349	3	4	22	1	0	0	0	0	1	0	0	0	6339	884	31	1	5782	1	GCN1L1	12	120599349	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30827	120599349	13252546	13431	15577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_006827.1	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													115	601					6.91701e-41	8.39604e-41	1	1	0	A	120602181	C	A	120602181	4	1	22	1	0	0	0	0	0	1	0	0	6339	661	23	4	6372	4	GCN1L1	12	120602181	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2832	120602181	13249714	13432	15578											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538144.1_5'UTR|PXN_ENST00000536957.1_Silent_p.L587L|PXN_ENST00000458477.2_Silent_p.L422L|PXN_ENST00000267257.7_Silent_p.L603L|PXN_ENST00000424649.2_Silent_p.L555L|PXN-AS1_ENST00000542265.1_RNA|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000228307.7_Silent_p.L589L			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													35	117					0	0	1	0	0	A	120650126	G	A	120650126	2	1	22	1	0	0	0	0	0	0	0	1	12904	929	33	2		2	PXN	12	120650126	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47945	120650126	13201769	13433	15579											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538144.1_5'UTR|PXN_ENST00000458477.2_Missense_Mutation_p.A21T|PXN_ENST00000267257.7_Missense_Mutation_p.A154T|PXN_ENST00000424649.2_Missense_Mutation_p.A154T|PXN_ENST00000228307.7_Missense_Mutation_p.A154T			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													37	148					0	0	1	0	0	T	120660699	C	T	120660699	3	4	22	1	0	0	0	0	1	0	0	0	12904	768	27	1	1351	1	PXN	12	120660699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10573	120660699	13191196	13434	15580											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	505					0	0	1	0	0	G	120783401	T	G	120783401	3	3	22	1	0	0	0	0	1	0	0	0	9924	1638	57	3	10	3	MSI1	12	120783401	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	122702	120783401	13068494	13435	15581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	387					0	0	1	0	0	A	120984244	G	A	120984244	3	1	22	1	0	0	0	0	1	0	0	0	13474	1087	38	1	200	1	RNF10	12	120984244	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200843	120984244	12867651	13436	15582											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	346					0	0	1	0	0	T	121175748	C	T	121175748	3	4	22	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	13437	15583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	148					0	0	1	0	0	C	121202852	A	C	121202852	3	2	22	1	0	0	0	0	1	0	0	0	15146	275	10	3	53	3	SPPL3	12	121202852	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27104	121202852	12649043	13438	15584											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541395.1_Missense_Mutation_p.T539A|HNF1A_ENST00000544413.1_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				115	649					0	0	1	0	0	G	121437184	A	G	121437184	3	3	22	1	0	0	0	0	1	0	0	0	7292	159	6	3	1645	3	HNF1A	12	121437184	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	234332	121437184	12414711	13439	15585											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366211.2_Missense_Mutation_p.S138N|C12orf43_ENST00000288757.3_Missense_Mutation_p.S179N|C12orf43_ENST00000539736.1_Missense_Mutation_p.S169N|C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000537817.1_Missense_Mutation_p.S180N			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													77	848					0	0	1	0	0	T	121442209	C	T	121442209	3	4	22	1	0	0	0	0	1	0	0	0	1695	797	28	2	256	2	C12orf43	12	121442209	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5025	121442209	12409686	13440	15586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	271					0	0	1	0	0	G	121458478	T	G	121458478	3	3	22	1	0	0	0	0	1	0	0	0	10850	1490	52	3	117	3	OASL	12	121458478	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16269	121458478	12393417	13441	15587											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544314.1_5'UTR|ANAPC5_ENST00000535482.1_Missense_Mutation_p.P411S|ANAPC5_ENST00000441917.2_Missense_Mutation_p.P633S|ANAPC5_ENST00000541887.1_Missense_Mutation_p.P732S|ANAPC5_ENST00000344395.4_Missense_Mutation_p.P633S	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													9	374					0	0	1	0	0	A	121746318	G	A	121746318	3	1	22	1	0	0	0	0	1	0	0	0	601	1203	42	2	38	2	ANAPC5	12	121746318	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	287840	121746318	12105577	13442	15588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121757499C>A	ENST00000261819.3	-	13	1759		c.e13+1		ANAPC5_ENST00000544314.1_Splice_Site|ANAPC5_ENST00000535482.1_Splice_Site|ANAPC5_ENST00000441917.2_Splice_Site|ANAPC5_ENST00000541887.1_Splice_Site|ANAPC5_ENST00000344395.4_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													30	93					1.16021e-09	1.22295e-09	1	1	0	A	121757499	C	A	121757499	5	1	22	1	0	0	0	0	0	0	1	0	601	521	18	2	649	2	ANAPC5	12	121757499	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11181	121757499	12094396	13443	15589											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544314.1_5'UTR|ANAPC5_ENST00000535482.1_Missense_Mutation_p.S153Y|ANAPC5_ENST00000441917.2_Missense_Mutation_p.S375Y|ANAPC5_ENST00000541887.1_Missense_Mutation_p.S474Y|ANAPC5_ENST00000344395.4_Missense_Mutation_p.S375Y	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													49	225					1.81118e-26	2.08805e-26	1	1	0	T	121758243	G	T	121758243	3	4	22	1	0	0	0	0	1	0	0	0	601	942	33	2	831	2	ANAPC5	12	121758243	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	744	121758243	12093652	13444	15590											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536366.1_Missense_Mutation_p.R64I|ANAPC5_ENST00000441917.2_Missense_Mutation_p.R86I|ANAPC5_ENST00000541887.1_Missense_Mutation_p.R185I|ANAPC5_ENST00000344395.4_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													193	894					7.44903e-92	9.56706e-92	1	1	0	A	121783678	C	A	121783678	3	1	22	1	0	0	0	0	1	0	0	0	601	913	32	2	1769	2	ANAPC5	12	121783678	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25435	121783678	12068217	13445	15591											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.R515W|KDM2B_ENST00000377071.4_Missense_Mutation_p.R1147W	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													28	186					0	0	1	0	0	A	121878882	G	A	121878882	3	1	22	1	0	0	0	0	1	0	0	0	8169	1115	39	1	639	1	KDM2B	12	121878882	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95204	121878882	11973013	13446	15592											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.L450M|KDM2B_ENST00000377071.4_Missense_Mutation_p.L1082M	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													50	199					2.14674e-31	2.52731e-31	1	1	0	T	121880000	G	T	121880000	3	4	22	1	0	0	0	0	1	0	0	0	8169	991	35	2	838	2	KDM2B	12	121880000	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1118	121880000	11971895	13447	15593											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Silent_p.P387P|KDM2B_ENST00000377071.4_Silent_p.P1019P	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													11	81					0	0	1	0	0	T	121880187	C	T	121880187	2	4	22	1	0	0	0	0	0	0	0	1	8169	755	27	1		1	KDM2B	12	121880187	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187	121880187	11971708	13448	15594											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.S347N|KDM2B_ENST00000377071.4_Missense_Mutation_p.S979N	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													8	219					0	0	1	0	0	T	121880308	C	T	121880308	3	4	22	1	0	0	0	0	1	0	0	0	8169	797	28	2	1146	2	KDM2B	12	121880308	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121	121880308	11971587	13449	15595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.R172W|KDM2B_ENST00000377071.4_Missense_Mutation_p.R804W	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)	152	549					0	0	1	0	0	A	121881856	G	A	121881856	3	1	22	1	0	0	0	0	1	0	0	0	8169	1086	38	1	1684	1	KDM2B	12	121881856	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1548	121881856	11970039	13450	15596											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536437.1_Missense_Mutation_p.C499Y|KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000377071.4_Missense_Mutation_p.C616Y	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													28	112					0	0	1	0	0	T	121891035	C	T	121891035	3	4	22	1	0	0	0	0	1	0	0	0	8169	710	25	2	2259	2	KDM2B	12	121891035	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9179	121891035	11960860	13451	15597											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	330					0	0	1	0	0	A	122097217	G	A	122097217	2	1	22	1	0	0	0	0	0	0	0	1	9758	932	33	2		2	MORN3	12	122097217	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	206182	122097217	11754678	13452	15598											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	107	483					0	0	1	0	0	T	122107269	C	T	122107269	3	4	22	1	0	0	0	0	1	0	0	0	9758	893	31	1	621	1	MORN3	12	122107269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10052	122107269	11744626	13453	15599											
MORN3	283385	broad.mit.edu	37	chr12	122107335	122107335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgttcctctgggccttccGgtcccaccccttccacaggg	10	19	1	0	rs35779661	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122107335G>A	ENST00000355329.3	-	1	225	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	19										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)		TGGGCCTTCCGGTCCCACCCC	0.592													115	571					0	0	1	0	0	A	122107335	G	A	122107335	3	1	22	1	0	0	0	0	1	0	0	0	9758	1115	39	1	687	1	MORN3	12	122107335	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66	122107335	11744560	13454	15600											
RHOF	54509	broad.mit.edu	37	chr12	122219028	122219028	+	Silent	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122219028G>A	ENST00000267205.2	-	3	925	c.297C>T	c.(295-297)gaC>gaT	p.D99D	TMEM120B_ENST00000538055.1_3'UTR|TMEM120B_ENST00000449592.2_3'UTR	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	99					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													55	329					0	0	1	0	0	A	122219028	G	A	122219028	2	1	22	1	0	0	0	0	0	0	0	1	13388	1136	40	1		1	RHOF	12	122219028	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111693	122219028	11632867	13455	15601											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	208					0	0	1	0	0	T	122281734	C	T	122281734	3	4	22	1	0	0	0	0	1	0	0	0	7373	768	27	1	357	1	HPD	12	122281734	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62706	122281734	11570161	13456	15602											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	399					0	0	1	0	0	T	122295256	C	T	122295256	3	4	22	1	0	0	0	0	1	0	0	0	7373	797	28	2	1049	2	HPD	12	122295256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13522	122295256	11556639	13457	15603											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122337749G>A	ENST00000544724.1	+	1	2573	c.184G>A	c.(184-186)Gcg>Acg	p.A62T	PSMD9_ENST00000340175.5_Missense_Mutation_p.A151T|RP11-87C12.2_ENST00000542602.1_Intron|PSMD9_ENST00000541212.1_Missense_Mutation_p.A151T|PSMD9_ENST00000261817.2_Missense_Mutation_p.A151T			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	151					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													38	221					0	0	1	0	0	A	122337749	G	A	122337749	3	1	22	1	0	0	0	0	1	0	0	0	12754	1087	38	1	461	1	PSMD9	12	122337749	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42493	122337749	11514146	13458	15604											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	244					9.52127e-25	1.09014e-24	1	1	0	T	122380800	G	T	122380800	5	4	22	1	0	0	0	0	0	0	1	0	17377	956	33	2	1132	2	WDR66	12	122380800	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43051	122380800	11471095	13459	15605											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								8	264					0	0	1	0	0	T	122497016	C	T	122497016	3	4	22	1	0	0	0	0	1	0	0	0	1376	507	18	2	665	2	BCL7A	12	122497016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116216	122497016	11354879	13460	15606											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122618405C>T	ENST00000319080.6	+	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	535					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													11	99					0	0	1	0	0	T	122618405	C	T	122618405	3	4	22	1	0	0	0	0	1	0	0	0	9684	527	19	1	1637	1	MLXIP	12	122618405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121389	122618405	11233490	13461	15607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122620057C>A	ENST00000319080.6	+	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	626					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													14	75					8.60227e-14	9.30909e-14	1	1	0	A	122620057	C	A	122620057	3	1	22	1	0	0	0	0	1	0	0	0	9684	594	21	2	1918	2	MLXIP	12	122620057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1652	122620057	11231838	13462	15608											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122620104G>A	ENST00000319080.6	+	11	2055	c.1923G>A	c.(1921-1923)ccG>ccA	p.P641P	MLXIP_ENST00000538698.1_Silent_p.P248P			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	641					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													17	59					0	0	1	0	0	A	122620104	G	A	122620104	2	1	22	1	0	0	0	0	0	0	0	1	9684	1074	38	1		1	MLXIP	12	122620104	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47	122620104	11231791	13463	15609											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122622746G>A	ENST00000319080.6	+	13	2292	c.2160G>A	c.(2158-2160)cgG>cgA	p.R720R	MLXIP_ENST00000538698.1_Silent_p.R327R			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	720					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													13	51					0	0	1	0	0	A	122622746	G	A	122622746	2	1	22	1	0	0	0	0	0	0	0	1	9684	1190	42	2		2	MLXIP	12	122622746	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2642	122622746	11229149	13464	15610											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	169					0	0	1	0	0	A	122669187	G	A	122669187	3	1	22	1	0	0	0	0	1	0	0	0	9046	1087	38	1	278	1	LRRC43	12	122669187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46441	122669187	11182708	13465	15611											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	272					0	0	1	0	0	T	122677357	C	T	122677357	2	4	22	1	0	0	0	0	0	0	0	1	9046	535	19	1		1	LRRC43	12	122677357	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8170	122677357	11174538	13466	15612											
LRRC43	254050	broad.mit.edu	37	chr12	122685346	122685346	+	Frame_Shift_Del	DEL	C	C	-													cccaaggagctccggcaggaCccccccatcctccaggtgct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122685346delC	ENST00000339777.4	+	10	1702	c.1674delC	c.(1672-1674)gafs	p.D558fs	LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Frame_Shift_Del_p.D373fs	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	558										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)		TCCGGCAGGACCCCCCCATCC	0.667													16	475	---	---	---	---						-	122685346	C	-	122685346	7	5	22	1	0	1	0	1	0	0	0	0	9046	506	18	0	1712	0	LRRC43	12	122685346	Frame_Shift_Del	DEL	C	TCGA-IB-7651-01A-11D-2154-08	7989	122685346	11166549	13467	15613											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000324189.4_Missense_Mutation_p.R202H|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Missense_Mutation_p.R177H			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													59	318					0	0	1	0	0	A	122691403	G	A	122691403	3	1	22	1	0	0	0	0	1	0	0	0	1257	1087	38	1	611	1	B3GNT4	12	122691403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6057	122691403	11160492	13468	15614											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545889.1_Silent_p.K332K|CLIP1_ENST00000540338.1_Silent_p.K642K|CLIP1_ENST00000537178.1_Silent_p.K596K|CLIP1_ENST00000302528.7_Silent_p.K631K|CLIP1_ENST00000361654.4_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													24	695					0	0	1	0	0	T	122825825	C	T	122825825	2	4	22	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	13469	15615											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545889.1_Missense_Mutation_p.T261P|CLIP1_ENST00000540338.1_Missense_Mutation_p.T571P|CLIP1_ENST00000537178.1_Missense_Mutation_p.T525P|CLIP1_ENST00000302528.7_Missense_Mutation_p.T560P|CLIP1_ENST00000361654.4_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													321	1297					0	0	1	0	0	G	122826040	T	G	122826040	3	3	22	1	0	0	0	0	1	0	0	0	3555	1725	60	3	2669	3	CLIP1	12	122826040	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	215	122826040	11025855	13470	15616											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537178.1_Missense_Mutation_p.G243D|CLIP1_ENST00000302528.7_Missense_Mutation_p.G243D|CLIP1_ENST00000361654.4_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													14	197					0	0	1	0	0	T	122848584	C	T	122848584	3	4	22	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	13471	15617											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537178.1_Missense_Mutation_p.G116S|CLIP1_ENST00000302528.7_Missense_Mutation_p.G116S|CLIP1_ENST00000361654.4_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													116	427					0	0	1	0	0	T	122862247	C	T	122862247	3	4	22	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	13472	15618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000336229.4_Missense_Mutation_p.P494L|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.P256L|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.P105L			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													74	300					0	0	1	0	0	A	122958687	G	A	122958687	3	1	22	1	0	0	0	0	1	0	0	0	17652	1116	39	1	646	1	ZCCHC8	12	122958687	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96440	122958687	10893208	13473	15619											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000336229.4_Silent_p.V483V|ZCCHC8_ENST00000536306.1_Silent_p.V245V|ZCCHC8_ENST00000538116.1_Silent_p.V94V			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													65	281					0	0	1	0	0	A	122958719	G	A	122958719	2	1	22	1	0	0	0	0	0	0	0	1	17652	929	33	2		2	ZCCHC8	12	122958719	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32	122958719	10893176	13474	15620											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122962754G>A	ENST00000543897.1	-	10	2867	c.513_splice	c.e10+1	p.A171_splice	ZCCHC8_ENST00000336229.4_Splice_Site_p.A409_splice|ZCCHC8_ENST00000536306.1_Splice_Site_p.A171_splice|ZCCHC8_ENST00000538116.1_Splice_Site_p.A20_splice			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													11	31					0	0	1	0	0	A	122962754	G	A	122962754	5	1	22	1	0	0	0	0	0	0	1	0	17652	1101	38	1	909	1	ZCCHC8	12	122962754	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4035	122962754	10889141	13475	15621											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	34					0	0	1	0	0	G	123026646	A	G	123026646	2	3	22	1	0	0	0	0	0	0	0	1	8471	117	5	3		3	KNTC1	12	123026646	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	63892	123026646	10825249	13476	15622											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	143					0	0	1	0	0	G	123072361	A	G	123072361	2	3	22	1	0	0	0	0	0	0	0	1	8471	204	8	3		3	KNTC1	12	123072361	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45715	123072361	10779534	13477	15623											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450485.2_Intron|KNTC1_ENST00000545065.1_3'UTR	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													79	288					0	0	1	0	0	A	123082326	G	A	123082326	2	1	22	1	0	0	0	0	0	0	0	1	8471	1074	38	1		1	KNTC1	12	123082326	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9965	123082326	10769569	13478	15624											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537566.1_5'UTR|CCDC62_ENST00000392441.4_Missense_Mutation_p.T83A	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													59	262					0	0	1	0	0	G	123265728	A	G	123265728	3	3	22	1	0	0	0	0	1	0	0	0	2853	43	2	3	257	3	CCDC62	12	123265728	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	183402	123265728	10586167	13479	15625											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537566.1_Missense_Mutation_p.I417V|CCDC62_ENST00000392441.4_Missense_Mutation_p.I656V|CCDC62_ENST00000392440.2_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													65	280					0	0	1	0	0	G	123297931	A	G	123297931	3	3	22	1	0	0	0	0	1	0	0	0	2853	217	8	3	2008	3	CCDC62	12	123297931	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32203	123297931	10553964	13480	15626											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													168	614					0	0	1	0	0	T	123339642	C	T	123339642	2	4	22	1	0	0	0	0	0	0	0	1	7156	825	29	2		2	HIP1R	12	123339642	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41711	123339642	10512253	13481	15627											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	405					0	0	1	0	0	A	123351959	G	A	123351959	3	1	22	1	0	0	0	0	1	0	0	0	17266	1232	43	2	299	2	VPS37B	12	123351959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12317	123351959	10499936	13482	15628											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													144	874					0	0	1	0	0	T	123352062	C	T	123352062	2	4	22	1	0	0	0	0	0	0	0	1	17266	610	22	2		2	VPS37B	12	123352062	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103	123352062	10499833	13483	15629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542117.1_3'UTR|OGFOD2_ENST00000545612.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000538628.1_Missense_Mutation_p.G20R|RP11-197N18.2_ENST00000540866.2_RNA|ABCB9_ENST00000542678.1_Intron|OGFOD2_ENST00000538755.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000454694.2_Missense_Mutation_p.G20R|OGFOD2_ENST00000545317.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000536150.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000228922.7_Missense_Mutation_p.G184R	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													7	156					0	0	1	0	0	A	123463318	G	A	123463318	3	1	22	1	0	0	0	0	1	0	0	0	10890	1116	39	1	388	1	OGFOD2	12	123463318	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111256	123463318	10388577	13484	15630											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542117.1_3'UTR|OGFOD2_ENST00000545612.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000538628.1_Missense_Mutation_p.L41M|RP11-197N18.2_ENST00000540866.2_RNA|ABCB9_ENST00000542678.1_Intron|OGFOD2_ENST00000538755.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000454694.2_Missense_Mutation_p.L41M|OGFOD2_ENST00000545317.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000536150.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000228922.7_Missense_Mutation_p.L205M	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													26	136					6.00712e-18	6.65163e-18	1	1	0	A	123463381	C	A	123463381	3	1	22	1	0	0	0	0	1	0	0	0	10890	796	28	2	451	2	OGFOD2	12	123463381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63	123463381	10388514	13485	15631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542117.1_3'UTR|OGFOD2_ENST00000545612.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000538628.1_Missense_Mutation_p.N74T|RP11-197N18.2_ENST00000540866.2_RNA|ABCB9_ENST00000542678.1_5'UTR|OGFOD2_ENST00000538755.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000454694.2_Missense_Mutation_p.N74T|OGFOD2_ENST00000545317.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000536150.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000228922.7_Missense_Mutation_p.N238T	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													51	198					0	0	1	0	0	C	123463481	A	C	123463481	3	2	22	1	0	0	0	0	1	0	0	0	10890	101	4	3	551	3	OGFOD2	12	123463481	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	100	123463481	10388414	13486	15632											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542749.1_Missense_Mutation_p.A570V|PITPNM2_ENST00000320201.4_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													15	323					0	0	1	0	0	A	123481078	G	A	123481078	3	1	22	1	0	0	0	0	1	0	0	0	11999	1203	42	2	2396	2	PITPNM2	12	123481078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17597	123481078	10370817	13487	15633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542749.1_Silent_p.V562V|PITPNM2_ENST00000320201.4_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													16	333					0	0	1	0	0	A	123481101	G	A	123481101	2	1	22	1	0	0	0	0	0	0	0	1	11999	1045	37	1		1	PITPNM2	12	123481101	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	123481101	10370794	13488	15634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542749.1_Missense_Mutation_p.R389C|PITPNM2_ENST00000546049.1_Missense_Mutation_p.R427C|PITPNM2_ENST00000320201.4_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													33	155					0	0	1	0	0	A	123485384	G	A	123485384	3	1	22	1	0	0	0	0	1	0	0	0	11999	1116	39	1	2952	1	PITPNM2	12	123485384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4283	123485384	10366511	13489	15635											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542749.1_Silent_p.I211I|PITPNM2_ENST00000546049.1_Silent_p.I211I|PITPNM2_ENST00000320201.4_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													113	570					0	0	1	0	0	A	123494407	G	A	123494407	2	1	22	1	0	0	0	0	0	0	0	1	11999	1164	41	2		2	PITPNM2	12	123494407	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9023	123494407	10357488	13490	15636											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542749.1_Missense_Mutation_p.S71R|PITPNM2_ENST00000546049.1_Missense_Mutation_p.S71R|PITPNM2_ENST00000320201.4_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													12	353					9.05144e-12	9.67624e-12	1	1	0	T	123498455	G	T	123498455	3	4	22	1	0	0	0	0	1	0	0	0	11999	962	34	2	3928	2	PITPNM2	12	123498455	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4048	123498455	10353440	13491	15637											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000602398.1_Silent_p.Y1142Y|SBNO1_ENST00000267176.4_Silent_p.Y1141Y|SBNO1_ENST00000602750.1_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													54	446					0	0	1	0	0	G	123794273	A	G	123794273	2	3	22	1	0	0	0	0	0	0	0	1	13915	224	8	3		3	SBNO1	12	123794273	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	295818	123794273	10057622	13492	15638											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000602398.1_Silent_p.S375S|SBNO1_ENST00000267176.4_Silent_p.S374S|SBNO1_ENST00000602750.1_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													11	101					0	0	1	0	0	T	123814975	C	T	123814975	2	4	22	1	0	0	0	0	0	0	0	1	13915	523	19	1		1	SBNO1	12	123814975	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20702	123814975	10036920	13493	15639											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	236					0	0	1	0	0	T	123889552	C	T	123889552	3	4	22	1	0	0	0	0	1	0	0	0	14191	797	28	2	805	2	SETD8	12	123889552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74577	123889552	9962343	13494	15640											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000350887.5_Missense_Mutation_p.R154I|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000412157.2_Missense_Mutation_p.R159I	NM_022717.2	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													105	467					1.11883e-47	1.37812e-47	1	1	0	T	123950548	G	T	123950548	3	4	22	1	0	0	0	0	1	0	0	0	14909	942	33	2	482	2	SNRNP35	12	123950548	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60996	123950548	9901347	13495	15641											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	268					0	0	1	0	0	A	123983096	G	A	123983096	3	1	22	1	0	0	0	0	1	0	0	0	13411	1203	42	2	431	2	RILPL1	12	123983096	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32548	123983096	9868799	13496	15642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543940.1_5'UTR|EIF2B1_ENST00000539951.1_Missense_Mutation_p.A34V|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													6	256					0	0	1	0	0	A	124115056	G	A	124115056	3	1	22	1	0	0	0	0	1	0	0	0	5026	1087	38	1	805	1	EIF2B1	12	124115056	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131960	124115056	9736839	13497	15643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124221607T>C	ENST00000330342.3	+	9	1075	c.825_splice	c.e9-1	p.V276_splice		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													84	324					0	0	1	0	0	C	124221607	T	C	124221607	5	2	22	1	0	0	0	0	0	0	1	0	1167	1652	57	3	861	3	ATP6V0A2	12	124221607	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	106551	124221607	9630288	13498	15644											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	73					0	0	1	0	0	A	124256171	G	A	124256171	3	1	22	1	0	0	0	0	1	0	0	0	4626	1059	37	1	149	1	DNAH10	12	124256171	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34564	124256171	9595724	13499	15645											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	305					0	0	1	0	0	T	124270422	C	T	124270422	3	4	22	1	0	0	0	0	1	0	0	0	4626	768	27	1	1211	1	DNAH10	12	124270422	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14251	124270422	9581473	13500	15646											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													137	676					0	0	1	0	0	A	124274538	G	A	124274538	3	1	22	1	0	0	0	0	1	0	0	0	4626	1087	38	1	1544	1	DNAH10	12	124274538	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4116	124274538	9577357	13501	15647											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	276					0	0	1	0	0	G	124289558	T	G	124289558	3	3	22	1	0	0	0	0	1	0	0	0	4626	1829	64	3	2670	3	DNAH10	12	124289558	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15020	124289558	9562337	13502	15648											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	85					0	0	1	0	0	A	124303737	G	A	124303737	3	1	22	1	0	0	0	0	1	0	0	0	4626	1175	41	2	3672	2	DNAH10	12	124303737	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14179	124303737	9548158	13503	15649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	79					0	0	1	0	0	T	124320029	C	T	124320029	3	4	22	1	0	0	0	0	1	0	0	0	4626	652	23	1	4608	1	DNAH10	12	124320029	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16292	124320029	9531866	13504	15650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													147	614					0	0	1	0	0	T	124332579	C	T	124332579	2	4	22	1	0	0	0	0	0	0	0	1	4626	506	18	2		2	DNAH10	12	124332579	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12550	124332579	9519316	13505	15651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	285					0	0	1	0	0	A	124335466	G	A	124335466	3	1	22	1	0	0	0	0	1	0	0	0	4626	1087	38	1	5914	1	DNAH10	12	124335466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2887	124335466	9516429	13506	15652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	268					9.5628e-27	1.10398e-26	1	1	0	A	124359997	C	A	124359997	3	1	22	1	0	0	0	0	1	0	0	0	4626	912	32	2	7986	2	DNAH10	12	124359997	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24531	124359997	9491898	13507	15653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	103					0	0	1	0	0	A	124383316	G	A	124383316	3	1	22	1	0	0	0	0	1	0	0	0	4626	1087	38	1	9459	1	DNAH10	12	124383316	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23319	124383316	9468579	13508	15654											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	55					0	0	1	0	0	T	124397810	C	T	124397810	3	4	22	1	0	0	0	0	1	0	0	0	4626	759	27	1	10180	1	DNAH10	12	124397810	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14494	124397810	9454085	13509	15655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_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													48	205					2.81731e-22	3.18527e-22	1	1	0	A	124415935	C	A	124415935	3	1	22	1	0	0	0	0	1	0	0	0	4626	913	32	2	12768	2	DNAH10	12	124415935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18125	124415935	9435960	13510	15656											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron|DNAH10_ENST00000538983.1_3'UTR	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													23	362					6.36457e-07	6.58826e-07	1	1	0	A	124416568	C	A	124416568	2	1	22	1	0	0	0	0	0	0	0	1	4626	903	32	2		2	DNAH10	12	124416568	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	633	124416568	9435327	13511	15657											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000238156.3_Missense_Mutation_p.V289I|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.V272I			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													34	266					0	0	1	0	0	T	124421736	C	T	124421736	3	4	22	1	0	0	0	0	1	0	0	0	2891	536	19	1	134	1	CCDC92	12	124421736	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5168	124421736	9430159	13512	15658											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000238156.3_Missense_Mutation_p.S153I|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.S136I			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													142	569					1.35869e-70	1.72609e-70	1	1	0	A	124422143	C	A	124422143	3	1	22	1	0	0	0	0	1	0	0	0	2891	797	28	2	541	2	CCDC92	12	124422143	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	407	124422143	9429752	13513	15659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545135.1_5'UTR|CCDC92_ENST00000544798.1_5'UTR|CCDC92_ENST00000545891.1_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													15	645					0	0	1	0	0	G	124428028	A	G	124428028	3	3	22	1	0	0	0	0	1	0	0	0	2891	275	10	3	960	3	CCDC92	12	124428028	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5885	124428028	9423867	13514	15660											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000538932.2_Missense_Mutation_p.R135S|ZNF664_ENST00000337815.4_Missense_Mutation_p.R135S|ZNF664_ENST00000392404.3_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													93	687					0	0	1	0	0	T	124497096	A	T	124497096	3	4	22	1	0	0	0	0	1	0	0	0	18129	301	11	5	407	5	ZNF664	12	124497096	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69068	124497096	9354799	13515	15661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-522N14.1_ENST00000540762.1_RNA|FAM101A_ENST00000546355.1_5'UTR|FAM101A_ENST00000324038.3_5'UTR|FAM101A_ENST00000338359.4_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													16	100					0	0	1	0	0	G	124796398	A	G	124796398	3	3	22	1	0	0	0	0	1	0	0	0	5411	319	11	3	1	3	FAM101A	12	124796398	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	299302	124796398	9055497	13516	15662											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124798899G>A	ENST00000389727.3	+	3	479	c.479G>A	c.(478-480)cGc>cAc	p.R160H	FAM101A_ENST00000546355.1_Missense_Mutation_p.R79H|FAM101A_ENST00000324038.3_Missense_Mutation_p.R79H|FAM101A_ENST00000338359.4_Missense_Mutation_p.R79H			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													146	576					0	0	1	0	0	A	124798899	G	A	124798899	3	1	22	1	0	0	0	0	1	0	0	0	5411	1087	38	1	242	1	FAM101A	12	124798899	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2501	124798899	9052996	13517	15663											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124798970C>T	ENST00000389727.3	+	3	550	c.550C>T	c.(550-552)Cac>Tac	p.H184Y	FAM101A_ENST00000546355.1_Missense_Mutation_p.H103Y|FAM101A_ENST00000324038.3_Missense_Mutation_p.H103Y|FAM101A_ENST00000338359.4_Missense_Mutation_p.H103Y			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													85	316					0	0	1	0	0	T	124798970	C	T	124798970	3	4	22	1	0	0	0	0	1	0	0	0	5411	710	25	2	313	2	FAM101A	12	124798970	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71	124798970	9052925	13518	15664											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429285.2_Missense_Mutation_p.P1652L|NCOR2_ENST00000405201.1_Missense_Mutation_p.P1662L|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1652L|NCOR2_ENST00000404121.2_Missense_Mutation_p.P1223L|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1653L	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													37	276					0	0	1	0	0	A	124826572	G	A	124826572	3	1	22	1	0	0	0	0	1	0	0	0	10283	1116	39	1	2615	1	NCOR2	12	124826572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27602	124826572	9025323	13519	15665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429285.2_Silent_p.T1578T|NCOR2_ENST00000405201.1_Silent_p.T1588T|NCOR2_ENST00000404621.1_Silent_p.T1578T|NCOR2_ENST00000404121.2_Silent_p.T1149T|NCOR2_ENST00000397355.1_Silent_p.T1579T	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													16	224					0	0	1	0	0	T	124827723	C	T	124827723	2	4	22	1	0	0	0	0	0	0	0	1	10283	755	27	1		1	NCOR2	12	124827723	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1151	124827723	9024172	13520	15666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429285.2_Silent_p.S897S|NCOR2_ENST00000405201.1_Silent_p.S915S|NCOR2_ENST00000404621.1_Silent_p.S897S|NCOR2_ENST00000404121.2_Silent_p.S468S|NCOR2_ENST00000397355.1_Silent_p.S898S	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													80	332					0	0	1	0	0	A	124856630	G	A	124856630	2	1	22	1	0	0	0	0	0	0	0	1	10283	1078	38	1		1	NCOR2	12	124856630	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28907	124856630	8995265	13521	15667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429285.2_Missense_Mutation_p.A571V|NCOR2_ENST00000405201.1_Missense_Mutation_p.A572V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A571V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A142V|NCOR2_ENST00000397355.1_Missense_Mutation_p.A572V	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													157	744					0	0	1	0	0	A	124885145	G	A	124885145	3	1	22	1	0	0	0	0	1	0	0	0	10283	1203	42	2	5985	2	NCOR2	12	124885145	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28515	124885145	8966750	13522	15668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429285.2_Silent_p.N557N|NCOR2_ENST00000405201.1_Silent_p.N558N|NCOR2_ENST00000404621.1_Silent_p.N557N|NCOR2_ENST00000404121.2_Silent_p.N128N|NCOR2_ENST00000397355.1_Silent_p.N558N	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													128	670					0	0	1	0	0	A	124885186	G	A	124885186	2	1	22	1	0	0	0	0	0	0	0	1	10283	1136	40	1		1	NCOR2	12	124885186	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41	124885186	8966709	13523	15669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000261693.6_Missense_Mutation_p.Q85H|SCARB1_ENST00000544327.1_Missense_Mutation_p.Q31H|SCARB1_ENST00000541205.1_Missense_Mutation_p.Q44H|SCARB1_ENST00000540495.1_Missense_Mutation_p.Q48H|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000415380.2_Missense_Mutation_p.Q85H|SCARB1_ENST00000546215.1_Missense_Mutation_p.Q85H|SCARB1_ENST00000376788.1_Intron	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													71	265					1.50372e-20	1.68596e-20	1	1	0	A	125302125	C	A	125302125	3	1	22	1	0	0	0	0	1	0	0	0	13934	680	24	2	1442	2	SCARB1	12	125302125	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	416939	125302125	8549770	13524	15670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.I334I			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													66	864					0	0	1	0	0	A	125397088	G	A	125397088	2	1	22	1	0	0	0	0	0	0	0	1	16903	1164	41	2		2	UBC	12	125397088	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94963	125397088	8454807	13525	15671											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	171					0	0	1	0	0	A	125432718	G	A	125432718	2	1	22	1	0	0	0	0	0	0	0	1	4538	1219	43	2		2	DHX37	12	125432718	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35630	125432718	8419177	13526	15672											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	125					0	0	1	0	0	A	125434989	G	A	125434989	3	1	22	1	0	0	0	0	1	0	0	0	4538	1086	38	1	402	1	DHX37	12	125434989	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2271	125434989	8416906	13527	15673											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	151					0	0	1	0	0	A	125437016	G	A	125437016	2	1	22	1	0	0	0	0	0	0	0	1	4538	1190	42	2		2	DHX37	12	125437016	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2027	125437016	8414879	13528	15674											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	245					0	0	1	0	0	A	125576018	G	A	125576018	2	1	22	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	13529	15675											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													203	863					0	0	1	0	0	A	125834834	G	A	125834834	3	1	22	1	0	0	0	0	1	0	0	0	16106	1203	42	2	895	2	TMEM132B	12	125834834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	258816	125834834	8017061	13530	15676											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	179					7.38237e-10	7.79401e-10	1	1	0	T	126128621	G	T	126128621	5	4	22	1	0	0	0	0	0	0	1	0	16106	1014	35	2	1444	2	TMEM132B	12	126128621	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	293787	126128621	7723274	13531	15677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	443					6.00099e-30	7.02477e-30	1	1	0	T	126138750	G	T	126138750	3	4	22	1	0	0	0	0	1	0	0	0	16106	1203	42	2	2765	2	TMEM132B	12	126138750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10129	126138750	7713145	13532	15678											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	510					0	0	1	0	0	T	129299465	C	T	129299465	3	4	22	1	0	0	0	0	1	0	0	0	14456	536	19	1	1064	1	SLC15A4	12	129299465	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3160715	129299465	4552430	13533	15679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													130	642					0	0	1	0	0	T	129360481	C	T	129360481	3	4	22	1	0	0	0	0	1	0	0	0	6507	710	25	2	97	2	GLT1D1	12	129360481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61016	129360481	4491414	13534	15680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	245					0	0	1	0	0	T	129566325	C	T	129566325	2	4	22	1	0	0	0	0	0	0	0	1	16107	796	28	2		2	TMEM132D	12	129566325	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	205844	129566325	4285570	13535	15681											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	240					0	0	1	0	0	T	130185005	C	T	130185005	2	4	22	1	0	0	0	0	0	0	0	1	16107	697	25	2		2	TMEM132D	12	130185005	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	618680	130185005	3666890	13536	15682											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	185					5.48756e-27	6.34209e-27	1	1	0	A	130185134	C	A	130185134	3	1	22	1	0	0	0	0	1	0	0	0	16107	680	24	2	3142	2	TMEM132D	12	130185134	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129	130185134	3666761	13537	15683											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	284					0	0	1	0	0	G	130647687	A	G	130647687	3	3	22	1	0	0	0	0	1	0	0	0	6164	188	7	3	202	3	FZD10	12	130647687	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	462553	130647687	3204208	13538	15684											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	328					0	0	1	0	0	T	130648444	C	T	130648444	3	4	22	1	0	0	0	0	1	0	0	0	6164	883	31	1	959	1	FZD10	12	130648444	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	757	130648444	3203451	13539	15685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	496					0	0	1	0	0	A	130898738	G	A	130898738	3	1	22	1	0	0	0	0	1	0	0	0	13413	971	34	2	598	2	RIMBP2	12	130898738	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	250294	130898738	2953157	13540	15686											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536002.1_Silent_p.G627G|RIMBP2_ENST00000535703.1_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													38	637					0	0	1	0	0	A	130919324	G	A	130919324	2	1	22	1	0	0	0	0	0	0	0	1	13413	1074	38	1		1	RIMBP2	12	130919324	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20586	130919324	2932571	13541	15687											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536002.1_Silent_p.S598S|RIMBP2_ENST00000535703.1_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													85	356					0	0	1	0	0	A	130919411	G	A	130919411	2	1	22	1	0	0	0	0	0	0	0	1	13413	1078	38	1		1	RIMBP2	12	130919411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87	130919411	2932484	13542	15688											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536002.1_Missense_Mutation_p.A511S|RIMBP2_ENST00000535703.1_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													5	116					0.184627	0.18487	1	1	0	A	130921635	C	A	130921635	3	1	22	1	0	0	0	0	1	0	0	0	13413	797	28	2	1391	2	RIMBP2	12	130921635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2224	130921635	2930260	13543	15689											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	398					2.34548e-53	2.9228e-53	1	1	0	T	131466502	G	T	131466502	3	4	22	1	0	0	0	0	1	0	0	0	6683	991	35	2	402	2	GPR133	12	131466502	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	544867	131466502	2385393	13544	15690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	300					0	0	1	0	0	T	131498749	C	T	131498749	3	4	22	1	0	0	0	0	1	0	0	0	6683	768	27	1	1387	1	GPR133	12	131498749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32247	131498749	2353146	13545	15691											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	426					0	0	1	0	0	T	131561384	C	T	131561384	2	4	22	1	0	0	0	0	0	0	0	1	6683	506	18	2		2	GPR133	12	131561384	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62635	131561384	2290511	13546	15692											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376682.4_Missense_Mutation_p.A502T|GPR133_ENST00000535015.1_Missense_Mutation_p.A848T|GPR133_ENST00000540207.1_3'UTR	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													60	259					0	0	1	0	0	A	131622691	G	A	131622691	3	1	22	1	0	0	0	0	1	0	0	0	6683	1087	38	1	2540	1	GPR133	12	131622691	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61307	131622691	2229204	13547	15693											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131622774C>T	ENST00000261654.5	+	24	3088	c.2529_splice	c.e24+1	p.L843_splice	GPR133_ENST00000543617.1_Splice_Site_p.L362_splice|GPR133_ENST00000376682.4_Splice_Site_p.L529_splice|GPR133_ENST00000535015.1_Splice_Site_p.L875_splice|GPR133_ENST00000540207.1_3'UTR	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													24	181					0	0	1	0	0	T	131622774	C	T	131622774	5	4	22	1	0	0	0	0	0	0	1	0	6683	898	31	1	2623	1	GPR133	12	131622774	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83	131622774	2229121	13548	15694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	325					0	0	1	0	0	T	132329707	C	T	132329707	3	4	22	1	0	0	0	0	1	0	0	0	9704	768	27	1	1039	1	MMP17	12	132329707	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	706933	132329707	1522188	13549	15695											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													158	705					0	0	1	0	0	A	132334409	G	A	132334409	3	1	22	1	0	0	0	0	1	0	0	0	9704	1058	37	1	1301	1	MMP17	12	132334409	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4702	132334409	1517486	13550	15696											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003556.1	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													50	143					0	0	1	0	0	A	132393284	G	A	132393284	3	1	22	1	0	0	0	0	1	0	0	0	17035	1058	37	1	434	1	ULK1	12	132393284	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58875	132393284	1458611	13551	15697											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003556.1	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													41	187					0	0	1	0	0	A	132394520	G	A	132394520	3	1	22	1	0	0	0	0	1	0	0	0	17035	1087	38	1	820	1	ULK1	12	132394520	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1236	132394520	1457375	13552	15698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003556.1	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													217	818					3.56531e-90	4.57673e-90	1	1	0	A	132405897	C	A	132405897	2	1	22	1	0	0	0	0	0	0	0	1	17035	903	32	2		2	ULK1	12	132405897	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11377	132405897	1445998	13553	15699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443358.2_Missense_Mutation_p.S260N|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000440818.2_Missense_Mutation_p.S260N|PUS1_ENST00000376649.3_Missense_Mutation_p.S288N			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													133	584					0	0	1	0	0	A	132426155	G	A	132426155	3	1	22	1	0	0	0	0	1	0	0	0	12882	971	34	2	881	2	PUS1	12	132426155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20258	132426155	1425740	13554	15700											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330386.6_Silent_p.S892S|EP400_ENST00000332482.4_Silent_p.S855S|EP400_ENST00000389561.2_Silent_p.S892S			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													94	463					0	0	1	0	0	C	132475998	T	C	132475998	2	2	22	1	0	0	0	0	0	0	0	1	5177	1538	54	3		3	EP400	12	132475998	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49843	132475998	1375897	13555	15701											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330386.6_Silent_p.P1214P|EP400_ENST00000332482.4_Silent_p.P1177P|EP400_ENST00000389561.2_Silent_p.P1214P			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													110	386					0	0	1	0	0	A	132498065	G	A	132498065	2	1	22	1	0	0	0	0	0	0	0	1	5177	1074	38	1		1	EP400	12	132498065	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22067	132498065	1353830	13556	15702											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330386.6_Silent_p.S1315S|EP400_ENST00000332482.4_Silent_p.S1278S|EP400_ENST00000389561.2_Silent_p.S1315S			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													81	413					0	0	1	0	0	T	132502101	C	T	132502101	2	4	22	1	0	0	0	0	0	0	0	1	5177	767	27	1		1	EP400	12	132502101	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4036	132502101	1349794	13557	15703											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330386.6_Nonsense_Mutation_p.W1889*|EP400_ENST00000332482.4_Nonsense_Mutation_p.W1933*|EP400_ENST00000389561.2_Nonsense_Mutation_p.W1970*			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													20	628					0	0	1	0	0	A	132516653	G	A	132516653	4	1	22	1	0	0	0	0	0	1	0	0	5177	1270	44	2	6021	2	EP400	12	132516653	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14552	132516653	1335242	13558	15704											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330386.6_Missense_Mutation_p.S2059F|EP400_ENST00000332482.4_Missense_Mutation_p.S2103F|EP400_ENST00000389561.2_Missense_Mutation_p.S2140F			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													23	162					0	0	1	0	0	T	132528242	C	T	132528242	3	4	22	1	0	0	0	0	1	0	0	0	5177	913	32	2	6546	2	EP400	12	132528242	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11589	132528242	1323653	13559	15705											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330386.6_Silent_p.G2887G|EP400_ENST00000332482.4_Silent_p.G2931G|EP400_ENST00000389561.2_Silent_p.G2968G			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													127	572					0	0	1	0	0	T	132554069	C	T	132554069	2	4	22	1	0	0	0	0	0	0	0	1	5177	755	27	1		1	EP400	12	132554069	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25827	132554069	1297826	13560	15706											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330386.6_Silent_p.A2963A|EP400_ENST00000332482.4_Silent_p.A3007A|EP400_ENST00000389561.2_Silent_p.A3044A			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													18	468					0	0	1	0	0	A	132561978	G	A	132561978	2	1	22	1	0	0	0	0	0	0	0	1	5177	1045	37	1		1	EP400	12	132561978	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7909	132561978	1289917	13561	15707											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	354					0	0	1	0	0	T	132625245	C	T	132625245	2	4	22	1	0	0	0	0	0	0	0	1	4392	755	27	1		1	DDX51	12	132625245	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63267	132625245	1226650	13562	15708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	227					0	0	1	0	0	T	132626412	C	T	132626412	2	4	22	1	0	0	0	0	0	0	0	1	4392	912	32	2		2	DDX51	12	132626412	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1167	132626412	1225483	13563	15709											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	302					0	0	1	0	0	G	132627285	A	G	132627285	3	3	22	1	0	0	0	0	1	0	0	0	4392	275	10	3	1394	3	DDX51	12	132627285	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	873	132627285	1224610	13564	15710											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538784.1_Silent_p.L9L|NOC4L_ENST00000535343.1_3'UTR	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													6	141					0	0	1	0	0	T	132636135	C	T	132636135	2	4	22	1	0	0	0	0	0	0	0	1	10562	680	24	2		2	NOC4L	12	132636135	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8850	132636135	1215760	13565	15711											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	153					0	0	1	0	0	T	132636673	C	T	132636673	2	4	22	1	0	0	0	0	0	0	0	1	10562	767	27	1		1	NOC4L	12	132636673	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	538	132636673	1215222	13566	15712											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	152					0	0	1	0	0	T	132636687	C	T	132636687	3	4	22	1	0	0	0	0	1	0	0	0	10562	739	26	2	1430	2	NOC4L	12	132636687	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14	132636687	1215208	13567	15713											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397325.2_Missense_Mutation_p.E203K|GALNT9_ENST00000541995.1_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													55	281					0	0	1	0	0	T	132681759	C	T	132681759	3	4	22	1	0	0	0	0	1	0	0	0	6260	864	30	2	110	2	GALNT9	12	132681759	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45072	132681759	1170136	13568	15714											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348800.5_Missense_Mutation_p.S109I|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000350048.5_Intron|P2RX2_ENST00000343948.4_Missense_Mutation_p.S109I	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													35	170					3.66082e-28	4.25431e-28	1	1	0	T	133196281	G	T	133196281	3	4	22	1	0	0	0	0	1	0	0	0	11387	971	34	2	336	2	P2RX2	12	133196281	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	514522	133196281	655614	13569	15715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					39	186					0	0	1	0	0	T	133201511	C	T	133201511	3	4	22	1	0	0	0	0	1	0	0	0	12244	768	27	1	141	1	POLE	12	133201511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5230	133201511	650384	13570	15716											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					176	865					0	0	1	0	0	C	133220118	T	C	133220118	3	2	22	1	0	0	0	0	1	0	0	0	12244	1696	59	3	2605	3	POLE	12	133220118	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18607	133220118	631777	13571	15717											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					33	194					0	0	1	0	0	G	133225890	A	G	133225890	5	3	22	1	0	0	0	0	0	0	1	0	12244	405	14	3	2929	3	POLE	12	133225890	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5772	133225890	626005	13572	15718											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					50	248					3.21987e-24	3.67739e-24	1	1	0	T	133225918	G	T	133225918	3	4	22	1	0	0	0	0	1	0	0	0	12244	991	35	2	2957	2	POLE	12	133225918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28	133225918	625977	13573	15719											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					29	713					0	0	1	0	0	A	133244944	G	A	133244944	3	1	22	1	0	0	0	0	1	0	0	0	12244	1087	38	1	4813	1	POLE	12	133244944	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19026	133244944	606951	13574	15720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					159	679					0	0	1	0	0	A	133250198	G	A	133250198	3	1	22	1	0	0	0	0	1	0	0	0	12244	1116	39	1	5686	1	POLE	12	133250198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5254	133250198	601697	13575	15721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					38	202					0	0	1	0	0	C	133253184	G	C	133253184	3	2	22	1	0	0	0	0	1	0	0	0	12244	1000	35	5	6167	5	POLE	12	133253184	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2986	133253184	598711	13576	15722											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542282.1_Missense_Mutation_p.A124T|ANKLE2_ENST00000542657.1_Missense_Mutation_p.A124T|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000357997.5_Missense_Mutation_p.A769T			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													79	399					0	0	1	0	0	T	133306443	C	T	133306443	3	4	22	1	0	0	0	0	1	0	0	0	629	710	25	2	523	2	ANKLE2	12	133306443	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53259	133306443	545452	13577	15723											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	225					4.73848e-44	5.79357e-44	1	1	0	T	133331501	G	T	133331501	3	4	22	1	0	0	0	0	1	0	0	0	629	1232	43	2	2464	2	ANKLE2	12	133331501	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25058	133331501	520394	13578	15724											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	595					0	0	1	0	0	C	133359027	T	C	133359027	3	2	22	1	0	0	0	0	1	0	0	0	6596	1725	60	3	1208	3	GOLGA3	12	133359027	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27526	133359027	492868	13579	15725											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541837.2_5'UTR|CHFR_ENST00000537522.1_Missense_Mutation_p.D124G|CHFR_ENST00000443047.2_Missense_Mutation_p.D410G|CHFR_ENST00000432561.2_Missense_Mutation_p.D502G|CHFR_ENST00000315585.7_Missense_Mutation_p.D461G|CHFR_ENST00000450056.2_Missense_Mutation_p.D490G			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													49	1007					0	0	1	0	0	C	133428227	T	C	133428227	3	2	22	1	0	0	0	0	1	0	0	0	3359	1667	58	3	517	3	CHFR	12	133428227	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	69200	133428227	423668	13580	15726											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000402932.2_Missense_Mutation_p.S195Y|ZNF10_ENST00000426665.2_Missense_Mutation_p.S329Y|ZNF268_ENST00000416488.1_Intron	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													79	371					3.12118e-38	3.75939e-38	1	1	0	A	133732818	C	A	133732818	3	1	22	1	0	0	0	0	1	0	0	0	17770	855	30	2	1000	2	ZNF10	12	133732818	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	304591	133732818	119077	13581	15727											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536899.2_3'UTR|ZNF268_ENST00000539248.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000542711.2_3'UTR|ZNF268_ENST00000537565.1_Nonsense_Mutation_p.Q80*|ZNF268_ENST00000228289.5_Nonsense_Mutation_p.Q241*	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													5	90					0	0	1	0	0	T	133778993	C	T	133778993	4	4	22	1	0	0	0	0	0	1	0	0	17865	711	25	2		2	ZNF268	12	133778993	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46175	133778993	72902	13582	15728											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536899.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000537565.1_Silent_p.F182F|ZNF268_ENST00000228289.5_Silent_p.F343F	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													13	65					0	0	1	0	0	T	133779301	C	T	133779301	2	4	22	1	0	0	0	0	0	0	0	1	17865	854	30	2		2	ZNF268	12	133779301	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	308	133779301	72594	13583	15729											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536899.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.R723I|ZNF268_ENST00000228289.5_Missense_Mutation_p.R884I	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													11	44					9.70103e-10	1.02402e-09	1	1	0	T	133780923	G	T	133780923	3	4	22	1	0	0	0	0	1	0	0	0	17865	942	33	2		2	ZNF268	12	133780923	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1622	133780923	70972	13584	15730											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	395					0	0	1	0	0	T	19751686	C	T	19751686	3	4	22	1	0	0	0	0	1	0	0	0	16808	739	26	2	923	2	TUBA3C	13	19751686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08		19751686	95418192	13585	15731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382975.4_Missense_Mutation_p.K215N|TPTE2_ENST00000382978.1_Missense_Mutation_p.K215N|TPTE2_ENST00000255310.6_Missense_Mutation_p.K178N|TPTE2_ENST00000390680.2_Missense_Mutation_p.K178N|TPTE2_ENST00000382977.4_Missense_Mutation_p.K255N|TPTE2_ENST00000457266.2_Missense_Mutation_p.K144N|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													28	216					2.85442e-18	3.16582e-18	1	1	0	A	20025342	C	A	20025342	3	1	22	1	0	0	0	0	1	0	0	0	16492	912	32	2	843	2	TPTE2	13	20025342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	273656	20025342	95144536	13586	15732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20077418C>A	ENST00000382977.4	-	2	168		c.e2-1		TPTE2_ENST00000382975.4_Splice_Site|TPTE2_ENST00000255310.6_5'UTR|TPTE2_ENST00000390680.2_Splice_Site|TPTE2_ENST00000457266.2_Splice_Site|TPTE2_ENST00000400230.2_5'UTR|TPTE2_ENST00000400103.2_Splice_Site	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													8	213					0.00244969	0.00247089	1	1	0	A	20077418	C	A	20077418	5	1	22	1	0	0	0	0	0	0	1	0	16492	579	20	2		2	TPTE2	13	20077418	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52076	20077418	95092460	13587	15733											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	116					0	0	1	0	0	C	20409711	T	C	20409711	3	2	22	1	0	0	0	0	1	0	0	0	17761	1638	57	3	860	3	ZMYM5	13	20409711	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	332293	20409711	94760167	13588	15734											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382874.2_Missense_Mutation_p.R798H|ZMYM2_ENST00000382870.2_Missense_Mutation_p.R178H|ZMYM2_ENST00000382883.3_Missense_Mutation_p.R280H|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													53	170					0	0	1	0	0	A	20625673	G	A	20625673	3	1	22	1	0	0	0	0	1	0	0	0	17758	1145	40	1	2435	1	ZMYM2	13	20625673	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215962	20625673	94544205	13589	15735											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382870.2_Missense_Mutation_p.A313T|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													20	68					0	0	1	0	0	A	20635250	G	A	20635250	3	1	22	1	0	0	0	0	1	0	0	0	17758	971	34	2	2855	2	ZMYM2	13	20635250	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9577	20635250	94534628	13590	15736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	305					0	0	1	0	0	T	20716897	C	T	20716897	2	4	22	1	0	0	0	0	0	0	0	1	6444	755	27	1		1	GJA3	13	20716897	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81647	20716897	94452981	13591	15737											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	76					0	0	1	0	0	T	20717142	C	T	20717142	3	4	22	1	0	0	0	0	1	0	0	0	6444	536	19	1	1025	1	GJA3	13	20717142	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	245	20717142	94452736	13592	15738											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	58	312					0	0	1	0	0	A	20763277	G	A	20763277	2	1	22	1	0	0	0	0	0	0	0	1	6450	1103	39	1		1	GJB2	13	20763277	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46135	20763277	94406601	13593	15739											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400065.3_Missense_Mutation_p.N62H|GJB6_ENST00000400066.3_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													7	282					0	0	1	0	0	G	20797436	T	G	20797436	3	3	22	1	0	0	0	0	1	0	0	0	6454	1841	64	3	605	3	GJB6	13	20797436	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34159	20797436	94372442	13594	15740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400065.3_Missense_Mutation_p.G11R|GJB6_ENST00000400066.3_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													115	528					0	0	1	0	0	T	20797589	C	T	20797589	3	4	22	1	0	0	0	0	1	0	0	0	6454	652	23	1	758	1	GJB6	13	20797589	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153	20797589	94372289	13595	15741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537103.1_Missense_Mutation_p.A477T|IFT88_ENST00000351808.5_Missense_Mutation_p.A496T|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													93	438					0	0	1	0	0	A	21212570	G	A	21212570	3	1	22	1	0	0	0	0	1	0	0	0	7610	1319	46	2	1579	2	IFT88	13	21212570	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	414981	21212570	93957308	13596	15742											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													135	769					0	0	1	0	0	C	21303256	T	C	21303256	3	2	22	1	0	0	0	0	1	0	0	0	10163	1406	49	3	40	3	N6AMT2	13	21303256	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	90686	21303256	93866622	13597	15743											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	404					0	0	1	0	0	A	21383304	G	A	21383304	4	1	22	1	0	0	0	0	0	1	0	0	17506	1066	37	1	2096	1	XPO4	13	21383304	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80048	21383304	93786574	13598	15744											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	143					0	0	1	0	0	A	21383952	G	A	21383952	3	1	22	1	0	0	0	0	1	0	0	0	17506	971	34	2	2183	2	XPO4	13	21383952	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	648	21383952	93785926	13599	15745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	551					0	0	1	0	0	A	21549149	G	A	21549149	4	1	22	1	0	0	0	0	0	1	0	0	8686	1124	39	1	143	1	LATS2	13	21549149	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165197	21549149	93620729	13600	15746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	212					9.39395e-14	1.01619e-13	1	1	0	T	21562824	G	T	21562824	2	4	22	1	0	0	0	0	0	0	0	1	8686	987	35	2		2	LATS2	13	21562824	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13675	21562824	93607054	13601	15747											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	284					0	0	1	0	0	A	21720978	G	A	21720978	3	1	22	1	0	0	0	0	1	0	0	0	13884	1029	36	2	284	2	SAP18	13	21720978	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158154	21720978	93448900	13602	15748											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	527					0	0	1	0	0	A	21729846	G	A	21729846	2	1	22	1	0	0	0	0	0	0	0	1	14409	1310	46	2		2	SKA3	13	21729846	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8868	21729846	93440032	13603	15749											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	469					0	0	1	0	0	A	21732194	G	A	21732194	3	1	22	1	0	0	0	0	1	0	0	0	14409	1059	37	1	311	1	SKA3	13	21732194	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2348	21732194	93437684	13604	15750											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	580					0	0	1	0	0	T	23904672	C	T	23904672	3	4	22	1	0	0	0	0	1	0	0	0	13856	768	27	1	400	1	SACS	13	23904672	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2172478	23904672	91265206	13605	15751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													131	843					0	0	1	0	0	T	23905023	C	T	23905023	3	4	22	1	0	0	0	0	1	0	0	0	13856	652	23	1	751	1	SACS	13	23905023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	351	23905023	91264855	13606	15752											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	222					4.88506e-25	5.59823e-25	1	1	0	A	23905812	C	A	23905812	3	1	22	1	0	0	0	0	1	0	0	0	13856	797	28	2	1540	2	SACS	13	23905812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	789	23905812	91264066	13607	15753											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	376					4.9621e-21	5.57887e-21	1	1	0	A	23910147	C	A	23910147	3	1	22	1	0	0	0	0	1	0	0	0	13856	855	30	2	5875	2	SACS	13	23910147	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4335	23910147	91259731	13608	15754											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	163					1.22384e-17	1.35282e-17	1	1	0	A	23910802	C	A	23910802	4	1	22	1	0	0	0	0	0	1	0	0	13856	864	30	2	6530	2	SACS	13	23910802	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	655	23910802	91259076	13609	15755											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	220					0	0	1	0	0	T	23911291	C	T	23911291	3	4	22	1	0	0	0	0	1	0	0	0	13856	797	28	2	7019	2	SACS	13	23911291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	489	23911291	91258587	13610	15756											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	334					0	0	1	0	0	T	23912282	C	T	23912282	2	4	22	1	0	0	0	0	0	0	0	1	13856	523	19	1		1	SACS	13	23912282	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	991	23912282	91257596	13611	15757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	294					0	0	1	0	0	T	23915088	C	T	23915088	3	4	22	1	0	0	0	0	1	0	0	0	13856	536	19	1	10816	1	SACS	13	23915088	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2806	23915088	91254790	13612	15758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	279					0	0	1	0	0	T	23929330	C	T	23929330	3	4	22	1	0	0	0	0	1	0	0	0	13856	768	27	1	12330	1	SACS	13	23929330	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14242	23929330	91240548	13613	15759											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	340					1.48341e-19	1.65596e-19	1	1	0	A	23929587	C	A	23929587	3	1	22	1	0	0	0	0	1	0	0	0	13856	912	32	2	12587	2	SACS	13	23929587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257	23929587	91240291	13614	15760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	337					0	0	1	0	0	T	23929960	C	T	23929960	3	4	22	1	0	0	0	0	1	0	0	0	13856	739	26	2	12960	2	SACS	13	23929960	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	373	23929960	91239918	13615	15761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	515					0	0	1	0	0	A	23932601	G	A	23932601	2	1	22	1	0	0	0	0	0	0	0	1	13856	1372	48	2		2	SACS	13	23932601	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2641	23932601	91237277	13616	15762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	302					0	0	1	0	0	T	24190110	C	T	24190110	2	4	22	1	0	0	0	0	0	0	0	1	16352	776	27	1		1	TNFRSF19	13	24190110	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257509	24190110	90979768	13617	15763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	195					0	0	1	0	0	C	24200923	A	C	24200923	3	2	22	1	0	0	0	0	1	0	0	0	16352	246	9	3	451	3	TNFRSF19	13	24200923	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10813	24200923	90968955	13618	15764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	58					0	0	1	0	0	T	24242173	C	T	24242173	3	4	22	1	0	0	0	0	1	0	0	0	16352	652	23	1	817	1	TNFRSF19	13	24242173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41250	24242173	90927705	13619	15765											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382263.3_Intron|TNFRSF19_ENST00000248484.4_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													22	170					0	0	1	0	0	T	24243246	C	T	24243246	4	4	22	1	0	0	0	0	0	1	0	0	16352	760	27	1	1285	1	TNFRSF19	13	24243246	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1073	24243246	90926632	13620	15766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382133.4_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382140.2_Silent_p.P151P|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA	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													25	247					0	0	1	0	0	T	24465977	C	T	24465977	2	4	22	1	0	0	0	0	0	0	0	1	1984	639	23	1		1	C1QTNF9B	13	24465977	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	222731	24465977	90703901	13621	15767											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.R24M|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_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													35	418					9.84934e-19	1.0948e-18	1	1	0	A	24471055	C	A	24471055	3	1	22	1	0	0	0	0	1	0	0	0	1984	681	24	2	941	2	C1QTNF9B	13	24471055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5078	24471055	90698823	13622	15768											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24471132G>T	ENST00000382137.3	-	0	62				C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382140.2_De_novo_Start_OutOfFrame|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_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													13	323					6.31663e-08	6.57865e-08	1	1	0	T	24471132	G	T	24471132	1	4	22	1	0	0	0	0	0	0	0	0	1984	957	33	2		2	C1QTNF9B	13	24471132	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77	24471132	90698746	13623	15769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382095.4_Nonsense_Mutation_p.R204*|SPATA13_ENST00000343003.6_Nonsense_Mutation_p.R148*|SPATA13_ENST00000399949.2_Nonsense_Mutation_p.R126*|SPATA13_ENST00000409126.1_Intron|SPATA13_ENST00000382108.3_Nonsense_Mutation_p.R829*			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													32	156					0	0	1	0	0	T	24860906	C	T	24860906	4	4	22	1	0	0	0	0	0	1	0	0	15056	760	27	1	2507	1	SPATA13	13	24860906	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	389774	24860906	90308972	13624	15770											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	550					0	0	1	0	0	A	24895592	G	A	24895592	3	1	22	1	0	0	0	0	1	0	0	0	1983	1059	37	1	698	1	C1QTNF9	13	24895592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34686	24895592	90274286	13625	15771											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	280					0	0	1	0	0	A	25008755	G	A	25008755	2	1	22	1	0	0	0	0	0	0	0	1	11510	1045	37	1		1	PARP4	13	25008755	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113163	25008755	90161123	13626	15772											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	208					0	0	1	0	0	A	25068788	G	A	25068788	2	1	22	1	0	0	0	0	0	0	0	1	11510	1020	36	2		2	PARP4	13	25068788	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60033	25068788	90101090	13627	15773											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	273					0	0	1	0	0	A	25068831	G	A	25068831	2	1	22	1	0	0	0	0	0	0	0	1	11510	987	35	2		2	PARP4	13	25068831	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43	25068831	90101047	13628	15774											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	433					8.27458e-37	9.91862e-37	1	1	0	T	25264557	G	T	25264557	4	4	22	1	0	0	0	0	0	1	0	0	1121	1001	35	2	650	2	ATP12A	13	25264557	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	195726	25264557	89905321	13629	15775											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	384					0	0	1	0	0	A	25264578	G	A	25264578	3	1	22	1	0	0	0	0	1	0	0	0	1121	942	33	2	671	2	ATP12A	13	25264578	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	25264578	89905300	13630	15776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	111	619					1.39691e-52	1.73782e-52	1	1	0	T	25268581	G	T	25268581	5	4	22	1	0	0	0	0	0	0	1	0	1121	956	33	2	1437	2	ATP12A	13	25268581	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4003	25268581	89901297	13631	15777											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													119	644					0	0	1	0	0	T	25281487	C	T	25281487	2	4	22	1	0	0	0	0	0	0	0	1	1121	747	26	2		2	ATP12A	13	25281487	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12906	25281487	89888391	13632	15778											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000255325.5_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													5	146					0.184627	0.18487	1	1	0	T	25338442	G	T	25338442	3	4	22	1	0	0	0	0	1	0	0	0	13513	1000	35	2	103	2	RNF17	13	25338442	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56955	25338442	89831436	13633	15779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381921.1_Missense_Mutation_p.E917A|RNF17_ENST00000339524.3_5'UTR	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													42	183					0	0	1	0	0	C	25418028	A	C	25418028	3	2	22	1	0	0	0	0	1	0	0	0	13513	246	9	3	2828	3	RNF17	13	25418028	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	79586	25418028	89751850	13634	15780											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381921.1_Missense_Mutation_p.T1073P|RNF17_ENST00000339524.3_Missense_Mutation_p.T125P	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													47	208					0	0	1	0	0	C	25425606	A	C	25425606	3	2	22	1	0	0	0	0	1	0	0	0	13513	43	2	3	3311	3	RNF17	13	25425606	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7578	25425606	89744272	13635	15781											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	463					0	0	1	0	0	A	25463468	T	A	25463468	3	1	22	1	0	0	0	0	1	0	0	0	3256	1406	49	5	757	5	CENPJ	13	25463468	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37862	25463468	89706410	13636	15782											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	381					7.28744e-38	8.7633e-38	1	1	0	A	25671076	C	A	25671076	3	1	22	1	0	0	0	0	1	0	0	0	11412	797	28	2	742	2	PABPC3	13	25671076	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207608	25671076	89498802	13637	15783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	706					0	0	1	0	0	A	25671625	G	A	25671625	3	1	22	1	0	0	0	0	1	0	0	0	11412	1087	38	1	1291	1	PABPC3	13	25671625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	549	25671625	89498253	13638	15784											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	409					4.41824e-40	5.35239e-40	1	1	0	T	25671992	G	T	25671992	3	4	22	1	0	0	0	0	1	0	0	0	11412	962	34	2	1658	2	PABPC3	13	25671992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	367	25671992	89497886	13639	15785											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													119	482					0	0	1	0	0	G	25672226	T	G	25672226	2	3	22	1	0	0	0	0	0	0	0	1	11412	1567	55	3		3	PABPC3	13	25672226	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	234	25672226	89497652	13640	15786											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	144					6.33695e-27	7.31871e-27	1	1	0	A	25831394	C	A	25831394	3	1	22	1	0	0	0	0	1	0	0	0	9995	680	24	2	854	2	MTMR6	13	25831394	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159168	25831394	89338484	13641	15787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	440					0	0	1	0	0	A	25912815	G	A	25912815	3	1	22	1	0	0	0	0	1	0	0	0	10822	1203	42	2	1634	2	NUPL1	13	25912815	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81421	25912815	89257063	13642	15788											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26535801C>T	ENST00000381655.2	+	34	3414	c.3272_splice	c.e34+1	p.A1091_splice	ATP8A2_ENST00000255283.8_Splice_Site_p.A1026_splice	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													66	349					0	0	1	0	0	T	26535801	C	T	26535801	5	4	22	1	0	0	0	0	0	0	1	0	1191	782	27	1	3406	1	ATP8A2	13	26535801	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	622986	26535801	88634077	13643	15789											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346166.3_Missense_Mutation_p.D501E|RNF6_ENST00000381570.3_Missense_Mutation_p.D501E|RNF6_ENST00000399762.2_Missense_Mutation_p.D145E|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													58	286					0	0	1	0	0	C	26788516	A	C	26788516	3	2	22	1	0	0	0	0	1	0	0	0	13550	98	4	3	558	3	RNF6	13	26788516	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	252715	26788516	88381362	13644	15790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	140					0	0	1	0	0	C	26828901	A	C	26828901	3	2	22	1	0	0	0	0	1	0	0	0	3172	69	3	3	125	3	CDK8	13	26828901	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40385	26828901	88340977	13645	15791											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	615					0	0	1	0	0	A	26923286	G	A	26923286	4	1	22	1	0	0	0	0	0	1	0	0	3172	1212	42	2	292	2	CDK8	13	26923286	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94385	26923286	88246592	13646	15792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	601					0	0	1	0	0	T	26923313	C	T	26923313	2	4	22	1	0	0	0	0	0	0	0	1	3172	506	18	2		2	CDK8	13	26923313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27	26923313	88246565	13647	15793											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													140	624					0	0	1	0	0	A	27255212	G	A	27255212	2	1	22	1	0	0	0	0	0	0	0	1	17314	1103	39	1		1	WASF3	13	27255212	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	331899	27255212	87914666	13648	15794											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	279					0	0	1	0	0	T	27333552	C	T	27333552	3	4	22	1	0	0	0	0	1	0	0	0	6675	768	27	1	595	1	GPR12	13	27333552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78340	27333552	87836326	13649	15795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	269					0	0	1	0	0	A	27333952	G	A	27333952	2	1	22	1	0	0	0	0	0	0	0	1	6675	991	35	2		2	GPR12	13	27333952	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	400	27333952	87835926	13650	15796											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	362					2.40579e-17	2.65515e-17	1	1	0	T	27643438	G	T	27643438	3	4	22	1	0	0	0	0	1	0	0	0	17103	933	33	2	21	2	USP12	13	27643438	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	309486	27643438	87526440	13651	15797											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	210					0	0	1	0	0	A	27645271	G	A	27645271	2	1	22	1	0	0	0	0	0	0	0	1	17103	1190	42	2		2	USP12	13	27645271	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1833	27645271	87524607	13652	15798											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	256					0	0	1	0	0	T	27829420	C	T	27829420	2	4	22	1	0	0	0	0	0	0	0	1	13619	518	18	2		2	RPL21	13	27829420	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	184149	27829420	87340458	13653	15799											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002088.2	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													14	71					0	0	1	0	0	C	28009581	T	C	28009581	2	2	22	1	0	0	0	0	0	0	0	1	6912	1538	54	3		3	GTF3A	13	28009581	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	180161	28009581	87160297	13654	15800											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	102					0	0	1	0	0	T	28498408	C	T	28498408	3	4	22	1	0	0	0	0	1	0	0	0	11742	768	27	1	428	1	PDX1	13	28498408	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	488827	28498408	86671470	13655	15801											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								44	163					1.61004e-24	1.84098e-24	1	1	0	T	28602336	G	T	28602336	3	4	22	1	0	0	0	0	1	0	0	0	5975	962	34	2	985	2	FLT3	13	28602336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103928	28602336	86567542	13656	15802											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								75	295					0	0	1	0	0	A	28609635	G	A	28609635	3	1	22	1	0	0	0	0	1	0	0	0	5975	1174	41	2	1439	2	FLT3	13	28609635	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7299	28609635	86560243	13657	15803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	601					3.77759e-48	4.65876e-48	1	1	0	T	28844994	G	T	28844994	3	4	22	1	0	0	0	0	1	0	0	0	11462	1203	42	2	1999	2	PAN3	13	28844994	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	235359	28844994	86324884	13658	15804											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	161					0	0	1	0	0	C	28901672	A	C	28901672	3	2	22	1	0	0	0	0	1	0	0	0	5974	101	4	3	1337	3	FLT1	13	28901672	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56678	28901672	86268206	13659	15805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	677					0	0	1	0	0	T	28964088	C	T	28964088	3	4	22	1	0	0	0	0	1	0	0	0	5974	797	28	2	2459	2	FLT1	13	28964088	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62416	28964088	86205790	13660	15806											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	132					0	0	1	0	0	G	29287142	A	G	29287142	2	3	22	1	0	0	0	0	0	0	0	1	14701	59	3	3		3	SLC46A3	13	29287142	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	323054	29287142	85882736	13661	15807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	239					0	0	1	0	0	G	29287292	A	G	29287292	2	3	22	1	0	0	0	0	0	0	0	1	14701	30	2	3		3	SLC46A3	13	29287292	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	150	29287292	85882586	13662	15808											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	191					0	0	1	0	0	G	29599490	A	G	29599490	3	3	22	1	0	0	0	0	1	0	0	0	10014	275	10	3	687	3	MTUS2	13	29599490	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	312198	29599490	85570388	13663	15809											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													124	575					0	0	1	0	0	A	30104741	G	A	30104741	3	1	22	1	0	0	0	0	1	0	0	0	14747	1059	37	1	1287	1	SLC7A1	13	30104741	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	505251	30104741	85065137	13664	15810											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	266					0	0	1	0	0	C	30341410	A	C	30341410	3	2	22	1	0	0	0	0	1	0	0	0	16947	98	4	3	21	3	UBL3	13	30341410	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	236669	30341410	84828468	13665	15811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	398					0	0	1	0	0	T	30815139	C	T	30815139	3	4	22	1	0	0	0	0	1	0	0	0	8029	797	28	2	923	2	KATNAL1	13	30815139	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	473729	30815139	84354739	13666	15812											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	357					1.73933e-33	2.06204e-33	1	1	0	T	31205600	G	T	31205600	3	4	22	1	0	0	0	0	1	0	0	0	17152	1029	36	2	867	2	USPL1	13	31205600	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	390461	31205600	83964278	13667	15813											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	363					0	0	1	0	0	C	31232400	A	C	31232400	3	2	22	1	0	0	0	0	1	0	0	0	17152	246	9	3	2216	3	USPL1	13	31232400	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26800	31232400	83937478	13668	15814											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	366					0	0	1	0	0	T	31232733	C	T	31232733	3	4	22	1	0	0	0	0	1	0	0	0	17152	739	26	2	2549	2	USPL1	13	31232733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	333	31232733	83937145	13669	15815											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380406.5_Missense_Mutation_p.H288Q|HSPH1_ENST00000429785.2_Missense_Mutation_p.H148Q|HSPH1_ENST00000445273.2_Missense_Mutation_p.H331Q|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													22	461					0	0	1	0	0	T	31724241	A	T	31724241	3	4	22	1	0	0	0	0	1	0	0	0	7475	330	12	5	1633	5	HSPH1	13	31724241	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	491508	31724241	83445637	13670	15816											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	407					0	0	1	0	0	G	32722003	T	G	32722003	2	3	22	1	0	0	0	0	0	0	0	1	6098	1828	64	3		3	FRY	13	32722003	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	997762	32722003	82447875	13671	15817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	329					0	0	1	0	0	T	32745307	C	T	32745307	3	4	22	1	0	0	0	0	1	0	0	0	6098	893	31	1	2121	1	FRY	13	32745307	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23304	32745307	82424571	13672	15818											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	271					0	0	1	0	0	C	32745346	A	C	32745346	3	2	22	1	0	0	0	0	1	0	0	0	6098	14	1	3	2160	3	FRY	13	32745346	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39	32745346	82424532	13673	15819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	425					0	0	1	0	0	T	32747543	C	T	32747543	4	4	22	1	0	0	0	0	0	1	0	0	6098	528	19	1	2265	1	FRY	13	32747543	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2197	32747543	82422335	13674	15820											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	397					0	0	1	0	0	T	32768363	C	T	32768363	2	4	22	1	0	0	0	0	0	0	0	1	6098	506	18	2		2	FRY	13	32768363	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20820	32768363	82401515	13675	15821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	254					4.6707e-30	5.47058e-30	1	1	0	A	32783857	C	A	32783857	3	1	22	1	0	0	0	0	1	0	0	0	6098	913	32	2	4541	2	FRY	13	32783857	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15494	32783857	82386021	13676	15822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	448					0	0	1	0	0	T	32852676	C	T	32852676	2	4	22	1	0	0	0	0	0	0	0	1	6098	639	23	1		1	FRY	13	32852676	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68819	32852676	82317202	13677	15823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000050.2	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)			42	181					0	0	1	0	0	A	32906448	G	A	32906448	3	1	22	1	0	0	0	0	1	0	0	0	1501	971	34	2	867	2	BRCA2	13	32906448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53772	32906448	82263430	13678	15824											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000050.2	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)			53	215					0	0	1	0	0	T	32911541	A	T	32911541	3	4	22	1	0	0	0	0	1	0	0	0	1501	101	4	5	3087	5	BRCA2	13	32911541	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5093	32911541	82258337	13679	15825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000050.2	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)			46	167					1.47857e-17	1.63348e-17	1	1	0	A	32912529	C	A	32912529	3	1	22	1	0	0	0	0	1	0	0	0	1501	565	20	2	4075	2	BRCA2	13	32912529	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	988	32912529	82257349	13680	15826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000050.2	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)			30	179					0	0	1	0	0	C	32913417	A	C	32913417	3	2	22	1	0	0	0	0	1	0	0	0	1501	101	4	3	4963	3	BRCA2	13	32913417	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	888	32913417	82256461	13681	15827											
BRCA2	675	broad.mit.edu	37	chr13	32913836	32913837	+	Frame_Shift_Ins	INS	-	-	A													attgaagaatgttgaagatcINSaaaaaaacactagtttttcc					rs80358757		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32913836_32913837insA	ENST00000544455.1	+	11	5571_5572	c.5344_5345insA	c.(5344-5346)aaafs	p.K1782fs	BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.K1782fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1782					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.N1784fs*7(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)		TGTTGAAGATCAAAAAAACACT	0.322			"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)			50	207	---	---	---	---						A	32913837	-	A	32913836	7	5	22	1	0	1	1	0	0	0	0	0	1501	827	29	0	5382	0	BRCA2	13	32913836	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	419	32913836	82256042	13682	15828											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000050.2	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)			58	345					0	0	1	0	0	A	32914727	G	A	32914727	3	1	22	1	0	0	0	0	1	0	0	0	1501	1029	36	2	6273	2	BRCA2	13	32914727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	891	32914727	82255151	13683	15829											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000050.2	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)			40	203					0	0	1	0	0	C	32953972	T	C	32953972	2	2	22	1	0	0	0	0	0	0	0	1	1501	1596	56	3		3	BRCA2	13	32953972	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39245	32953972	82215906	13684	15830											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000459716.1_Intron|N4BP2L1_ENST00000380130.2_Intron|N4BP2L1_ENST00000380133.2_Intron|N4BP2L1_ENST00000530622.2_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													24	191					0	0	1	0	0	T	32978376	C	T	32978376	2	4	22	1	0	0	0	0	0	0	0	1	10159	738	26	2		2	N4BP2L1	13	32978376	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24404	32978376	82191502	13685	15831											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR|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													9	164					0	0	1	0	0	T	33016813	C	T	33016813	3	4	22	1	0	0	0	0	1	0	0	0	10160	893	31	1	409	1	N4BP2L2	13	33016813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38437	33016813	82153065	13686	15832											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR|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													44	314					0	0	1	0	0	T	33017510	C	T	33017510	4	4	22	1	0	0	0	0	0	1	0	0	10160	740	26	2	1106	2	N4BP2L2	13	33017510	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	697	33017510	82152368	13687	15833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR|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													5	88					5.9392e-07	6.14895e-07	1	1	0	A	33017909	C	A	33017909	3	1	22	1	0	0	0	0	1	0	0	0	10160	680	24	2	1505	2	N4BP2L2	13	33017909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	399	33017909	82151969	13688	15834											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	199					1.55469e-16	1.70887e-16	1	1	0	T	33281111	G	T	33281111	3	4	22	1	0	0	0	0	1	0	0	0	11739	971	34	2	1963	2	PDS5B	13	33281111	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263202	33281111	81888767	13689	15835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000426690.2_Intron|KL_ENST00000487852.1_3'UTR	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													11	55					0	0	1	0	0	T	33591381	C	T	33591381	3	4	22	1	0	0	0	0	1	0	0	0	8374	768	27	1	805	1	KL	13	33591381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	310270	33591381	81578497	13690	15836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_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													49	243					0	0	1	0	0	T	33635273	C	T	33635273	3	4	22	1	0	0	0	0	1	0	0	0	8374	536	19	1	2071	1	KL	13	33635273	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43892	33635273	81534605	13691	15837											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:35615281C>A	ENST00000540320.1	+	2	1040	c.506C>A	c.(505-507)gCt>gAt	p.A169D	NBEA_ENST00000379939.2_Missense_Mutation_p.A169D|NBEA_ENST00000400445.3_Missense_Mutation_p.A169D|NBEA_ENST00000310336.4_Missense_Mutation_p.A169D			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													11	145					3.07112e-06	3.16074e-06	1	1	0	A	35615281	C	A	35615281	3	1	22	1	0	0	0	0	1	0	0	0	10235	797	28	2	512	2	NBEA	13	35615281	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1980008	35615281	79554597	13692	15838											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:35630181G>A	ENST00000540320.1	+	7	1541	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	NBEA_ENST00000379939.2_Missense_Mutation_p.R336Q|NBEA_ENST00000400445.3_Missense_Mutation_p.R336Q|NBEA_ENST00000310336.4_Missense_Mutation_p.R336Q			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													64	249					0	0	1	0	0	A	35630181	G	A	35630181	3	1	22	1	0	0	0	0	1	0	0	0	10235	1058	37	1	1033	1	NBEA	13	35630181	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14900	35630181	79539697	13693	15839											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_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													70	454					0	0	1	0	0	A	36049526	G	A	36049526	2	1	22	1	0	0	0	0	0	0	0	1	9187	1195	42	2		2	MAB21L1	13	36049526	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	419345	36049526	79120352	13694	15840											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_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													66	331					0	0	1	0	0	A	36049967	G	A	36049967	2	1	22	1	0	0	0	0	0	0	0	1	9187	1078	38	1		1	MAB21L1	13	36049967	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	441	36049967	79119911	13695	15841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_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													114	435					0	0	1	0	0	T	36050059	C	T	36050059	3	4	22	1	0	0	0	0	1	0	0	0	9187	893	31	1	866	1	MAB21L1	13	36050059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92	36050059	79119819	13696	15842											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_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													153	579					0	0	1	0	0	A	36050193	G	A	36050193	3	1	22	1	0	0	0	0	1	0	0	0	9187	1203	42	2	1000	2	MAB21L1	13	36050193	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134	36050193	79119685	13697	15843											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36220438C>T	ENST00000540320.1	+	50	8194	c.7660C>T	c.(7660-7662)Cag>Tag	p.Q2554*	NBEA_ENST00000379922.3_Nonsense_Mutation_p.Q132*|NBEA_ENST00000537702.1_Nonsense_Mutation_p.Q347*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.Q2551*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.Q2554*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.Q2554*			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													10	125					0	0	1	0	0	T	36220438	C	T	36220438	4	4	22	1	0	0	0	0	0	1	0	0	10235	827	29	2	7858	2	NBEA	13	36220438	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170245	36220438	78949440	13698	15844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379893.1_Missense_Mutation_p.G344S|DCLK1_ENST00000360631.3_Missense_Mutation_p.G651S	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													62	263					0	0	1	0	0	T	36367610	C	T	36367610	3	4	22	1	0	0	0	0	1	0	0	0	4314	594	21	2	250	2	DCLK1	13	36367610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147172	36367610	78802268	13699	15845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000255448.4_Intron|DCLK1_ENST00000379893.1_Intron|DCLK1_ENST00000360631.3_Intron|DCLK1_ENST00000460982.1_5'UTR			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													37	225					0	0	1	0	0	A	36424911	G	A	36424911	2	1	22	1	0	0	0	0	0	0	0	1	4314	1276	44	2		2	DCLK1	13	36424911	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57301	36424911	78744967	13700	15846											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	380					0	0	1	0	0	T	36686021	C	T	36686021	2	4	22	1	0	0	0	0	0	0	0	1	4314	523	19	1		1	DCLK1	13	36686021	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	261110	36686021	78483857	13701	15847											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	541					0	0	1	0	0	T	36686204	C	T	36686204	2	4	22	1	0	0	0	0	0	0	0	1	4314	680	24	2		2	DCLK1	13	36686204	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	183	36686204	78483674	13702	15848											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	386					0	0	1	0	0	G	36700099	A	G	36700099	3	3	22	1	0	0	0	0	1	0	0	0	4314	43	2	3	2081	3	DCLK1	13	36700099	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13895	36700099	78469779	13703	15849											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438666.2_Missense_Mutation_p.I609V|SPG20_ENST00000494062.2_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													65	435					0	0	1	0	0	C	36878678	T	C	36878678	3	2	22	1	0	0	0	0	1	0	0	0	15098	1406	49	3	179	3	SPG20	13	36878678	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	178579	36878678	78291200	13704	15850											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438666.2_Silent_p.A586A|SPG20_ENST00000494062.2_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													50	205					0	0	1	0	0	G	36878745	A	G	36878745	2	3	22	1	0	0	0	0	0	0	0	1	15098	407	15	3		3	SPG20	13	36878745	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67	36878745	78291133	13705	15851											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438666.2_Missense_Mutation_p.I402T|SPG20_ENST00000494062.2_Missense_Mutation_p.I402T|SPG20_ENST00000495510.1_5'UTR|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													25	155					0	0	1	0	0	G	36900795	A	G	36900795	3	3	22	1	0	0	0	0	1	0	0	0	15098	101	4	3	815	3	SPG20	13	36900795	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22050	36900795	78269083	13706	15852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36905734C>A	ENST00000451493.1	-	3	1028		c.e3-1		SPG20_ENST00000438666.2_Splice_Site|SPG20_ENST00000494062.2_Splice_Site|SPG20_ENST00000495510.1_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													50	188					5.73435e-26	6.59582e-26	1	1	0	A	36905734	C	A	36905734	5	1	22	1	0	0	0	0	0	0	1	0	15098	695	24	2	1218	2	SPG20	13	36905734	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4939	36905734	78264144	13707	15853											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440264.1_Missense_Mutation_p.L147I|CCNA1_ENST00000449823.1_Missense_Mutation_p.L147I|CCNA1_ENST00000255465.4_Missense_Mutation_p.L191I	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													130	746					4.74804e-72	6.03895e-72	1	1	0	A	37012230	C	A	37012230	3	1	22	1	0	0	0	0	1	0	0	0	2931	913	32	2	585	2	CCNA1	13	37012230	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106496	37012230	78157648	13708	15854											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440264.1_Missense_Mutation_p.V313M|CCNA1_ENST00000449823.1_Missense_Mutation_p.V313M|CCNA1_ENST00000255465.4_Missense_Mutation_p.V357M	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													75	502					0	0	1	0	0	A	37014291	G	A	37014291	3	1	22	1	0	0	0	0	1	0	0	0	2931	1029	36	2	1091	2	CCNA1	13	37014291	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2061	37014291	78155587	13709	15855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	170					0	0	1	0	0	A	37447026	G	A	37447026	3	1	22	1	0	0	0	0	1	0	0	0	14818	1377	48	2	984	2	SMAD9	13	37447026	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	432735	37447026	77722852	13710	15856											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37453838G>T	ENST00000379826.4	-	0	331				SMAD9_ENST00000399275.2_De_novo_Start_InFrame|SMAD9_ENST00000350148.5_De_novo_Start_InFrame|SMAD9_ENST00000483941.1_5'UTR	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													60	312					6.75472e-32	7.9656e-32	1	1	0	T	37453838	G	T	37453838	1	4	22	1	0	0	0	0	0	0	0	0	14818	986	34	2		2	SMAD9	13	37453838	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6812	37453838	77716040	13711	15857											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ALG5_ENST00000443765.1_Missense_Mutation_p.L20F|EXOSC8_ENST00000489088.1_Intron|ALG5_ENST00000413537.2_Missense_Mutation_p.L20F|ALG5_ENST00000496689.1_Intron	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													27	164					0	0	1	0	0	A	37573380	G	A	37573380	3	1	22	1	0	0	0	0	1	0	0	0	517	1000	35	2	956	2	ALG5	13	37573380	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119542	37573380	77596498	13712	15858											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	184					8.73648e-17	9.61379e-17	1	1	0	T	37582916	G	T	37582916	3	4	22	1	0	0	0	0	1	0	0	0	5348	1174	41	2	697	2	EXOSC8	13	37582916	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9536	37582916	77586962	13713	15859											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	478					0	0	1	0	0	C	37678964	T	C	37678964	3	2	22	1	0	0	0	0	1	0	0	0	3976	1435	50	3	587	3	CSNK1A1L	13	37678964	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96048	37678964	77490914	13714	15860											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	451					0	0	1	0	0	A	37679320	G	A	37679320	3	1	22	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	13715	15861											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	208					8.24728e-16	9.03206e-16	1	1	0	T	37679424	G	T	37679424	1	4	22	1	0	0	0	0	0	0	0	0	3976	986	34	2		2	CSNK1A1L	13	37679424	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104	37679424	77490454	13716	15862											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38138654A>G	ENST00000379747.4	-	22	2591		c.e22+1		POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000541481.1_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													10	323					0	0	1	0	0	G	38138654	A	G	38138654	5	3	22	1	0	0	0	0	0	0	1	0	12307	405	14	3	43	3	POSTN	13	38138654	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	459230	38138654	77031224	13717	15863											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379749.4_Missense_Mutation_p.R508H|POSTN_ENST00000379742.4_Missense_Mutation_p.R508H|POSTN_ENST00000541179.1_Missense_Mutation_p.R508H|POSTN_ENST00000379743.4_Missense_Mutation_p.R508H|POSTN_ENST00000541481.1_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													71	792					0	0	1	0	0	T	38154704	C	T	38154704	3	4	22	1	0	0	0	0	1	0	0	0	12307	768	27	1	1039	1	POSTN	13	38154704	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16050	38154704	77015174	13718	15864											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379749.4_Missense_Mutation_p.A262T|POSTN_ENST00000379742.4_Missense_Mutation_p.A262T|POSTN_ENST00000541179.1_Missense_Mutation_p.A262T|POSTN_ENST00000379743.4_Missense_Mutation_p.A262T|POSTN_ENST00000541481.1_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													56	260					0	0	1	0	0	T	38160387	C	T	38160387	3	4	22	1	0	0	0	0	1	0	0	0	12307	739	26	2	1794	2	POSTN	13	38160387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5683	38160387	77009491	13719	15865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379681.3_Missense_Mutation_p.F363V|TRPC4_ENST00000426868.2_Missense_Mutation_p.F363V|TRPC4_ENST00000379679.1_Missense_Mutation_p.F190V|TRPC4_ENST00000447043.1_Missense_Mutation_p.F363V|TRPC4_ENST00000338947.5_Missense_Mutation_p.F190V|TRPC4_ENST00000355779.2_Missense_Mutation_p.F363V|TRPC4_ENST00000379673.2_Missense_Mutation_p.F363V|TRPC4_ENST00000358477.2_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													39	206					0	0	1	0	0	C	38266283	A	C	38266283	3	2	22	1	0	0	0	0	1	0	0	0	16641	101	4	3	1893	3	TRPC4	13	38266283	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	105896	38266283	76903595	13720	15866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379681.3_Missense_Mutation_p.P341H|TRPC4_ENST00000426868.2_Missense_Mutation_p.P341H|TRPC4_ENST00000379679.1_Missense_Mutation_p.P168H|TRPC4_ENST00000447043.1_Missense_Mutation_p.P341H|TRPC4_ENST00000338947.5_Missense_Mutation_p.P168H|TRPC4_ENST00000355779.2_Missense_Mutation_p.P341H|TRPC4_ENST00000379673.2_Missense_Mutation_p.P341H|TRPC4_ENST00000358477.2_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													42	172					2.26627e-22	2.56399e-22	1	1	0	T	38266348	G	T	38266348	3	4	22	1	0	0	0	0	1	0	0	0	16641	1000	35	2	1958	2	TRPC4	13	38266348	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65	38266348	76903530	13721	15867											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													137	528					0	0	1	0	0	T	38924138	C	T	38924138	3	4	22	1	0	0	0	0	1	0	0	0	16996	893	31	1	11	1	UFM1	13	38924138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	657790	38924138	76245740	13722	15868											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	73					0	0	1	0	0	T	38924356	C	T	38924356	2	4	22	1	0	0	0	0	0	0	0	1	16996	783	27	1		1	UFM1	13	38924356	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218	38924356	76245522	13723	15869											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	497					0	0	1	0	0	A	39262299	G	A	39262299	3	1	22	1	0	0	0	0	1	0	0	0	6080	1087	38	1	820	1	FREM2	13	39262299	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	337943	39262299	75907579	13724	15870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	374					1.15098e-32	1.36004e-32	1	1	0	T	39262336	G	T	39262336	3	4	22	1	0	0	0	0	1	0	0	0	6080	962	34	2	857	2	FREM2	13	39262336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	39262336	75907542	13725	15871											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	353					0	0	1	0	0	A	39262809	G	A	39262809	3	1	22	1	0	0	0	0	1	0	0	0	6080	1116	39	1	1330	1	FREM2	13	39262809	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	473	39262809	75907069	13726	15872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	110					0	0	1	0	0	A	39263085	G	A	39263085	3	1	22	1	0	0	0	0	1	0	0	0	6080	1087	38	1	1606	1	FREM2	13	39263085	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	276	39263085	75906793	13727	15873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	422					9.35569e-46	1.14784e-45	1	1	0	T	39263542	G	T	39263542	3	4	22	1	0	0	0	0	1	0	0	0	6080	962	34	2	2063	2	FREM2	13	39263542	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	457	39263542	75906336	13728	15874											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	392					0	0	1	0	0	A	39263556	G	A	39263556	3	1	22	1	0	0	0	0	1	0	0	0	6080	1145	40	1	2077	1	FREM2	13	39263556	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14	39263556	75906322	13729	15875											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	217					0	0	1	0	0	T	39264040	C	T	39264040	2	4	22	1	0	0	0	0	0	0	0	1	6080	535	19	1		1	FREM2	13	39264040	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	484	39264040	75905838	13730	15876											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	523					0	0	1	0	0	A	39264502	G	A	39264502	2	1	22	1	0	0	0	0	0	0	0	1	6080	1223	43	2		2	FREM2	13	39264502	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	462	39264502	75905376	13731	15877											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	252					0	0	1	0	0	A	39264866	G	A	39264866	3	1	22	1	0	0	0	0	1	0	0	0	6080	971	34	2	3387	2	FREM2	13	39264866	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	364	39264866	75905012	13732	15878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													231	980					0	0	1	0	0	G	39265074	T	G	39265074	3	3	22	1	0	0	0	0	1	0	0	0	6080	1841	64	3	3595	3	FREM2	13	39265074	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	208	39265074	75904804	13733	15879											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	522					0	0	1	0	0	A	39357242	G	A	39357242	3	1	22	1	0	0	0	0	1	0	0	0	6080	1145	40	1	5695	1	FREM2	13	39357242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92168	39357242	75812636	13734	15880											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	410					0	0	1	0	0	T	39448647	C	T	39448647	2	4	22	1	0	0	0	0	0	0	0	1	6080	874	31	1		1	FREM2	13	39448647	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91405	39448647	75721231	13735	15881											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	333					0	0	1	0	0	T	39450468	C	T	39450468	2	4	22	1	0	0	0	0	0	0	0	1	6080	668	24	2		2	FREM2	13	39450468	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1821	39450468	75719410	13736	15882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	350					0	0	1	0	0	A	39541021	G	A	39541021	2	1	22	1	0	0	0	0	0	0	0	1	15371	1020	36	2		2	STOML3	13	39541021	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90553	39541021	75628857	13737	15883											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001012754.2	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													38	189					9.45814e-24	1.07742e-23	1	1	0	T	39621894	G	T	39621894	3	4	22	1	0	0	0	0	1	0	0	0	10454	971	34	2	901	2	NHLRC3	13	39621894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80873	39621894	75547984	13738	15884											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	267					0	0	1	0	0	A	40235011	G	A	40235011	3	1	22	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	13739	15885											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	443					0	0	1	0	0	C	41340970	T	C	41340970	3	2	22	1	0	0	0	0	1	0	0	0	9890	1725	60	3	859	3	MRPS31	13	41340970	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1105959	41340970	73828908	13740	15886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	617					0	0	1	0	0	A	41507949	G	A	41507949	3	1	22	1	0	0	0	0	1	0	0	0	5081	1087	38	1	391	1	ELF1	13	41507949	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166979	41507949	73661929	13741	15887											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	355					0	0	1	0	0	T	41646932	C	T	41646932	2	4	22	1	0	0	0	0	0	0	0	1	17321	639	23	1		1	WBP4	13	41646932	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138983	41646932	73522946	13742	15888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000430347.2_Missense_Mutation_p.N458I|MTRF1_ENST00000379477.1_Missense_Mutation_p.E409D	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													57	260					0	0	1	0	0	A	41791362	T	A	41791362	3	1	22	1	0	0	0	0	1	0	0	0	10007	1490	52	5	114	5	MTRF1	13	41791362	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	144430	41791362	73378516	13743	15889											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000403412.3_Missense_Mutation_p.Q196H|NAA16_ENST00000379367.3_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													23	214					9.57634e-11	1.01752e-10	1	1	0	T	41899884	G	T	41899884	3	4	22	1	0	0	0	0	1	0	0	0	10167	933	33	2	610	2	NAA16	13	41899884	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108522	41899884	73269994	13744	15890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	346					0	0	1	0	0	A	42876137	G	A	42876137	2	1	22	1	0	0	0	0	0	0	0	1	444	1335	47	2		2	AKAP11	13	42876137	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	976253	42876137	72293741	13745	15891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	302					0	0	1	0	0	A	42877029	G	A	42877029	3	1	22	1	0	0	0	0	1	0	0	0	444	971	34	2	4169	2	AKAP11	13	42877029	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	892	42877029	72292849	13746	15892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398795.2_5'UTR|TNFSF11_ENST00000544862.1_5'UTR|TNFSF11_ENST00000405262.2_Intron|TNFSF11_ENST00000358545.2_Intron			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													22	98					0	0	1	0	0	T	43148613	C	T	43148613	2	4	22	1	0	0	0	0	0	0	0	1	16362	726	26	2		2	TNFSF11	13	43148613	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271584	43148613	72021265	13747	15893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000313624.7_Missense_Mutation_p.S205N|EPSTI1_ENST00000476830.2_5'UTR	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													117	631					0	0	1	0	0	T	43500515	C	T	43500515	3	4	22	1	0	0	0	0	1	0	0	0	5226	565	20	2	646	2	EPSTI1	13	43500515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	351902	43500515	71669363	13748	15894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000313624.7_Missense_Mutation_p.Q124H|EPSTI1_ENST00000476830.2_5'UTR	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													29	151					0	0	1	0	0	G	43538235	T	G	43538235	3	3	22	1	0	0	0	0	1	0	0	0	5226	1722	60	3	900	3	EPSTI1	13	43538235	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37720	43538235	71631643	13749	15895											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	253					0	0	1	0	0	C	43935567	A	C	43935567	3	2	22	1	0	0	0	0	1	0	0	0	5154	14	1	3	1749	3	ENOX1	13	43935567	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	397332	43935567	71234311	13750	15896											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	237					0	0	1	0	0	T	43986136	C	T	43986136	3	4	22	1	0	0	0	0	1	0	0	0	5154	536	19	1	1859	1	ENOX1	13	43986136	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50569	43986136	71183742	13751	15897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	241					0	0	1	0	0	A	43986165	G	A	43986165	3	1	22	1	0	0	0	0	1	0	0	0	5154	1087	38	1	1888	1	ENOX1	13	43986165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29	43986165	71183713	13752	15898											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	264					0	0	1	0	0	T	45149075	C	T	45149075	3	4	22	1	0	0	0	0	1	0	0	0	16668	797	28	2	2226	2	TSC22D1	13	45149075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1162910	45149075	70020803	13753	15899											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	142					0	0	1	0	0	A	45554055	G	A	45554055	2	1	22	1	0	0	0	0	0	0	0	1	10796	1136	40	1		1	NUFIP1	13	45554055	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	404980	45554055	69615823	13754	15900											
KIAA1704	0	broad.mit.edu	37	chr13	45578554	45578554	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaatctgaagaagatgAcagtggtccaactgcaaggt	11	7	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45578554A>G	ENST00000361121.2	+	2	238	c.203A>G	c.(202-204)gAc>gGc	p.D68G	KIAA1704_ENST00000379151.4_Missense_Mutation_p.D68G|RP11-321C24.1_ENST00000437748.2_lincRNA			Q8IXQ4	K1704_HUMAN		68										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		GAAGAAGATGACAGTGGTCCA	0.388													6	309					0	0	1	0	0	G	45578554	A	G	45578554	3	3	22	1	0	0	0	0	1	0	0	0	8294	275	10	3	209	3	KIAA1704	13	45578554	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24499	45578554	69591324	13755	15901											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	477					0	0	1	0	0	C	45976427	T	C	45976427	3	2	22	1	0	0	0	0	1	0	0	0	14549	1667	58	3	423	3	SLC25A30	13	45976427	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	397873	45976427	69193451	13756	15902	100	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	467					2.13431e-38	2.57195e-38	1	1	0	A	45976437	C	A	45976437	3	1	22	1	0	0	0	0	1	0	0	0	14549	796	28	2	433	2	SLC25A30	13	45976437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10	45976437	69193441	13757	15903	100	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_113619.2	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													72	305					0	0	1	0	0	C	46067616	A	C	46067616	3	2	22	1	0	0	0	0	1	0	0	0	3682	43	2	3	1368	3	COG3	13	46067616	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	91179	46067616	69102262	13758	15904											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	188					0	0	1	0	0	T	46276968	C	T	46276968	3	4	22	1	0	0	0	0	1	0	0	0	15095	594	21	2	140	2	SPERT	13	46276968	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209352	46276968	68892910	13759	15905											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	167					0	0	1	0	0	A	46287329	G	A	46287329	3	1	22	1	0	0	0	0	1	0	0	0	15095	1059	37	1	179	1	SPERT	13	46287329	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10361	46287329	68882549	13760	15906											
ZC3H13	23091	broad.mit.edu	37	chr13	46542016	46542017	+	Frame_Shift_Del	DEL	CT	CT	-													ctctctgcctcgtatctctcCtctctctctcgcgctctctg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46542016_46542017delCT	ENST00000242848.4	-	15	4291_4292	c.3943_3944delAG	c.(3943-3945)gfs	p.R1316fs	ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs|ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1316							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)		cgtatctctcctctctctctcg	0.495													7	392	---	---	---	---						-	46542017	CT	-	46542016	7	5	22	1	0	1	0	1	0	0	0	0	17624	681	24	0	762	0	ZC3H13	13	46542016	Frame_Shift_Del	DEL	CT	TCGA-IB-7651-01A-11D-2154-08	254687	46542016	68627862	13761	15907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	194					0	0	1	0	0	A	46563006	G	A	46563006	3	1	22	1	0	0	0	0	1	0	0	0	17624	1377	48	2	3559	2	ZC3H13	13	46563006	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20990	46563006	68606872	13762	15908											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	255					0	0	1	0	0	A	46679085	G	A	46679085	2	1	22	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	13763	15909											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								80	401					0	0	1	0	0	T	46704966	C	T	46704966	2	4	22	1	0	0	0	0	0	0	0	1	8730	912	32	2		2	LCP1	13	46704966	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25881	46704966	68464912	13764	15910											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								84	322					0	0	1	0	0	T	46716542	C	T	46716542	3	4	22	1	0	0	0	0	1	0	0	0	8730	768	27	1	512	1	LCP1	13	46716542	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11576	46716542	68453336	13765	15911											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								119	739					0	0	1	0	0	A	46730615	G	A	46730615	3	1	22	1	0	0	0	0	1	0	0	0	8730	1145	40	1	1482	1	LCP1	13	46730615	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14073	46730615	68439263	13766	15912											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000323076.2_Missense_Mutation_p.A2V|LCP1_ENST00000460190.1_5'UTR			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								47	229					0	0	1	0	0	A	46733793	G	A	46733793	3	1	22	1	0	0	0	0	1	0	0	0	8730	1203	42	2	1938	2	LCP1	13	46733793	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3178	46733793	68436085	13767	15913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001157685.1	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													31	163					0	0	1	0	0	A	47255891	G	A	47255891	3	1	22	1	0	0	0	0	1	0	0	0	8977	1059	37	1	609	1	LRCH1	13	47255891	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	522098	47255891	67913987	13768	15914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001157685.1	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													49	278					0	0	1	0	0	T	47262061	C	T	47262061	2	4	22	1	0	0	0	0	0	0	0	1	8977	610	22	2		2	LRCH1	13	47262061	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6170	47262061	67907817	13769	15915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001157685.1	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													72	347					0	0	1	0	0	T	47269052	C	T	47269052	3	4	22	1	0	0	0	0	1	0	0	0	8977	652	23	1	1179	1	LRCH1	13	47269052	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6991	47269052	67900826	13770	15916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001157685.1	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													33	237					0	0	1	0	0	C	47297373	A	C	47297373	2	2	22	1	0	0	0	0	0	0	0	1	8977	296	11	3		3	LRCH1	13	47297373	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28321	47297373	67872505	13771	15917											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	390					1.56989e-16	1.72551e-16	1	1	0	T	47345570	G	T	47345570	3	4	22	1	0	0	0	0	1	0	0	0	5278	971	34	2	22	2	ESD	13	47345570	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48197	47345570	67824308	13772	15918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	370					0	0	1	0	0	T	47409298	C	T	47409298	3	4	22	1	0	0	0	0	1	0	0	0	7485	478	17	2	329	2	HTR2A	13	47409298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63728	47409298	67760580	13773	15919											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543413.1_Missense_Mutation_p.Q234H|SUCLA2_ENST00000544100.1_Missense_Mutation_p.Q158H|SUCLA2_ENST00000534875.1_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													102	371					2.68873e-43	3.28104e-43	1	1	0	A	48528619	C	A	48528619	3	1	22	1	0	0	0	0	1	0	0	0	15419	680	24	2	535	2	SUCLA2	13	48528619	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1119321	48528619	66641259	13774	15920											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	405					0	0	1	0	0	C	48832293	A	C	48832293	3	2	22	1	0	0	0	0	1	0	0	0	7957	333	12	3	499	3	ITM2B	13	48832293	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	303674	48832293	66337585	13775	15921											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			17	259					6.94344e-10	7.33246e-10	1	1	0	T	48916833	G	T	48916833	3	4	22	1	0	0	0	0	1	0	0	0	13150	933	33	2	373	2	RB1	13	48916833	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84540	48916833	66253045	13776	15922											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			16	85					2.35188e-11	2.50879e-11	1	1	0	A	48955427	C	A	48955427	3	1	22	1	0	0	0	0	1	0	0	0	13150	623	22	2	1609	2	RB1	13	48955427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38594	48955427	66214451	13777	15923											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	LPAR6_ENST00000345941.2_Missense_Mutation_p.L127I|RB1_ENST00000267163.4_Intron	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													9	110					2.17888e-05	2.22852e-05	1	1	0	T	48986181	G	T	48986181	3	4	22	1	0	0	0	0	1	0	0	0	8954	933	33	2	659	2	LPAR6	13	48986181	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30754	48986181	66183697	13778	15924											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			32	147					0	0	1	0	0	G	49054158	A	G	49054158	3	3	22	1	0	0	0	0	1	0	0	0	13150	72	3	3	2844	3	RB1	13	49054158	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67977	49054158	66115720	13779	15925											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000430805.2_Missense_Mutation_p.E535K|RCBTB2_ENST00000544492.1_Missense_Mutation_p.E256K	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													10	310					0	0	1	0	0	T	49064315	C	T	49064315	3	4	22	1	0	0	0	0	1	0	0	0	13224	922	32	2	71	2	RCBTB2	13	49064315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10157	49064315	66105563	13780	15926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	480					0	0	1	0	0	C	49281308	T	C	49281308	3	2	22	1	0	0	0	0	1	0	0	0	4225	1638	57	3	357	3	CYSLTR2	13	49281308	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	216993	49281308	65888570	13781	15927											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	668					0	0	1	0	0	T	49281382	C	T	49281382	2	4	22	1	0	0	0	0	0	0	0	1	4225	668	24	2		2	CYSLTR2	13	49281382	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74	49281382	65888496	13782	15928											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541916.1_Missense_Mutation_p.P339Q|FNDC3A_ENST00000398316.3_Missense_Mutation_p.P283Q	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													31	311					6.90743e-12	7.39364e-12	1	1	0	A	49741418	C	A	49741418	3	1	22	1	0	0	0	0	1	0	0	0	6002	594	21	2	1057	2	FNDC3A	13	49741418	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	460036	49741418	65428460	13783	15929											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541916.1_Silent_p.G631G|FNDC3A_ENST00000398316.3_Silent_p.G575G	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													30	1095					0	0	1	0	0	T	49762718	C	T	49762718	2	4	22	1	0	0	0	0	0	0	0	1	6002	784	28	2		2	FNDC3A	13	49762718	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21300	49762718	65407160	13784	15930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541916.1_Silent_p.S863S|FNDC3A_ENST00000398316.3_Silent_p.S807S	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													79	432					0	0	1	0	0	T	49772216	C	T	49772216	2	4	22	1	0	0	0	0	0	0	0	1	6002	767	27	1		1	FNDC3A	13	49772216	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9498	49772216	65397662	13785	15931											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	46					0	0	1	0	0	T	49794908	C	T	49794908	2	4	22	1	0	0	0	0	0	0	0	1	9680	755	27	1		1	MLNR	13	49794908	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22692	49794908	65374970	13786	15932											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	123					0	0	1	0	0	A	49796490	G	A	49796490	3	1	22	1	0	0	0	0	1	0	0	0	9680	1087	38	1	1222	1	MLNR	13	49796490	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1582	49796490	65373388	13787	15933											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	329					0	0	1	0	0	C	49841720	A	C	49841720	3	2	22	1	0	0	0	0	1	0	0	0	3075	69	3	3	543	3	CDADC1	13	49841720	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45230	49841720	65328158	13788	15934											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	539					0	0	1	0	0	T	49852631	C	T	49852631	3	4	22	1	0	0	0	0	1	0	0	0	3075	768	27	1	1222	1	CDADC1	13	49852631	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10911	49852631	65317247	13789	15935											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000488958.1_Missense_Mutation_p.N31K|PHF11_ENST00000378319.3_Missense_Mutation_p.N70K	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													20	106					0	0	1	0	0	G	50080886	T	G	50080886	3	3	22	1	0	0	0	0	1	0	0	0	11870	1490	52	3	216	3	PHF11	13	50080886	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	228255	50080886	65088992	13790	15936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	244					0	0	1	0	0	C	50125569	T	C	50125569	2	2	22	1	0	0	0	0	0	0	0	1	13223	1567	55	3		3	RCBTB1	13	50125569	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44683	50125569	65044309	13791	15937											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	285					0	0	1	0	0	T	50141409	C	T	50141409	3	4	22	1	0	0	0	0	1	0	0	0	13223	855	30	2	1632	2	RCBTB1	13	50141409	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15840	50141409	65028469	13792	15938											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	462					0.000274275	0.000278163	1	1	0	T	50204565	G	T	50204565	5	4	22	1	0	0	0	0	0	0	1	0	924	1014	35	2		2	ARL11	13	50204565	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63156	50204565	64965313	13793	15939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378284.2_3'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_3'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													42	243					0	0	1	0	0	G	50235155	T	G	50235155	3	3	22	1	0	0	0	0	1	0	0	0	4913	1722	60	3	54	3	EBPL	13	50235155	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30590	50235155	64934723	13794	15940											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000495963.2_5'UTR|EBPL_ENST00000378282.5_Missense_Mutation_p.T91A|EBPL_ENST00000378270.5_Intron	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													110	355					0	0	1	0	0	C	50237284	T	C	50237284	3	2	22	1	0	0	0	0	1	0	0	0	4913	1725	60	3	339	3	EBPL	13	50237284	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2129	50237284	64932594	13795	15941											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													135	502					0	0	1	0	0	C	51522132	T	C	51522132	3	2	22	1	0	0	0	0	1	0	0	0	13465	1493	52	3	656	3	RNASEH2B	13	51522132	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1284848	51522132	63647746	13796	15942											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	385					0	0	1	0	0	A	52234790	G	A	52234790	3	1	22	1	0	0	0	0	1	0	0	0	17329	1319	46	2	202	2	WDFY2	13	52234790	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	712658	52234790	62935088	13797	15943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	565					3.21867e-24	3.67736e-24	1	1	0	T	52439824	G	T	52439824	4	4	22	1	0	0	0	0	0	1	0	0	2863	1175	41	2	312	2	CCDC70	13	52439824	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205034	52439824	62730054	13798	15944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Silent_p.G717G|ATP7B_ENST00000417240.2_Silent_p.G100G|ATP7B_ENST00000344297.5_Silent_p.G666G|ATP7B_ENST00000418097.2_Silent_p.G828G|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Silent_p.G750G	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				47	242					0	0	1	0	0	A	52524499	G	A	52524499	2	1	22	1	0	0	0	0	0	0	0	1	1189	1074	38	1		1	ATP7B	13	52524499	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84675	52524499	62645379	13799	15945											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	479					9.31168e-06	9.55451e-06	1	1	0	A	52593140	C	A	52593140	3	1	22	1	0	0	0	0	1	0	0	0	510	796	28	2	142	2	ALG11	13	52593140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68641	52593140	62576738	13800	15946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	238					1.06522e-23	1.21267e-23	1	1	0	A	52593269	C	A	52593269	3	1	22	1	0	0	0	0	1	0	0	0	510	680	24	2	271	2	ALG11	13	52593269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129	52593269	62576609	13801	15947											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	316					0	0	1	0	0	T	52598190	C	T	52598190	2	4	22	1	0	0	0	0	0	0	0	1	510	535	19	1		1	ALG11	13	52598190	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4921	52598190	62571688	13802	15948											
ALG11	440138	broad.mit.edu	37	chr13	52602503	52602504	+	Frame_Shift_Ins	INS	-	-	G													attatccttgcacacaattcINSggggggcccaaagcttgaca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52602503_52602504insG	ENST00000521508.1	+	4	1261_1262	c.1256_1257insG	c.(1255-1257)tggfs	p.W419fs	UTP14C_ENST00000521776.2_5'UTR|ALG11_ENST00000523764.1_Frame_Shift_Ins_p.LG31fs|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase									p.S419S(1)		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)		GCACACAATTCGGGGGGCCCAA	0.426													87	564	---	---	---	---						G	52602504	-	G	52602503	7	5	22	1	0	1	1	0	0	0	0	0	510	893	31	0	1270	0	ALG11	13	52602503	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	4313	52602503	62567375	13803	15949											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_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													65	341					0	0	1	0	0	T	52603460	C	T	52603460	3	4	22	1	0	0	0	0	1	0	0	0	17156	797	28	2	522	2	UTP14C	13	52603460	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	957	52603460	62566418	13804	15950											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	322					0	0	1	0	0	C	52603992	T	C	52603992	3	2	22	1	0	0	0	0	1	0	0	0	17156	1696	59	3	1054	3	UTP14C	13	52603992	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	532	52603992	62565886	13805	15951											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	313					0	0	1	0	0	A	52657437	G	A	52657437	3	1	22	1	0	0	0	0	1	0	0	0	10374	1203	42	2	619	2	NEK5	13	52657437	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53445	52657437	62512441	13806	15952											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	352					0	0	1	0	0	T	52684547	C	T	52684547	5	4	22	1	0	0	0	0	0	0	1	0	10374	927	32	2	1794	2	NEK5	13	52684547	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27110	52684547	62485331	13807	15953											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	339					0	0	1	0	0	C	52686441	A	C	52686441	3	2	22	1	0	0	0	0	1	0	0	0	10374	333	12	3	1923	3	NEK5	13	52686441	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1894	52686441	62483437	13808	15954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000258613.4_Missense_Mutation_p.A680T|THSD1_ENST00000544466.1_Missense_Mutation_p.A301T	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													48	212					0	0	1	0	0	T	52952067	C	T	52952067	3	4	22	1	0	0	0	0	1	0	0	0	15937	710	25	2	524	2	THSD1	13	52952067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	265626	52952067	62217811	13809	15955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000258613.4_Silent_p.D561D|THSD1_ENST00000544466.1_Silent_p.D182D	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													75	810					0	0	1	0	0	A	52952422	G	A	52952422	2	1	22	1	0	0	0	0	0	0	0	1	15937	1368	48	2		2	THSD1	13	52952422	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	355	52952422	62217456	13810	15956											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_016075.2	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													28	135					0	0	1	0	0	A	52991255	G	A	52991255	2	1	22	1	0	0	0	0	0	0	0	1	17264	1074	38	1		1	VPS36	13	52991255	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38833	52991255	62178623	13811	15957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_016075.2	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													41	194					1.8453e-21	2.07902e-21	1	1	0	A	53007820	C	A	53007820	4	1	22	1	0	0	0	0	0	1	0	0	17264	922	32	2	691	2	VPS36	13	53007820	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16565	53007820	62162058	13812	15958											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	213					2.87052e-16	3.15093e-16	1	1	0	T	53217583	G	T	53217583	3	4	22	1	0	0	0	0	1	0	0	0	7299	942	33	2	958	2	HNRNPA1L2	13	53217583	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	209763	53217583	61952295	13813	15959											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53282672T>C	ENST00000448904.2	-	6	898	c.789_splice	c.e6+1	p.H263_splice	LECT1_ENST00000377962.3_Splice_Site_p.H263_splice	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													46	234					0	0	1	0	0	C	53282672	T	C	53282672	5	2	22	1	0	0	0	0	0	0	1	0	8751	1478	51	3	224	3	LECT1	13	53282672	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	65089	53282672	61887206	13814	15960											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	523					0	0	1	0	0	T	53282814	C	T	53282814	3	4	22	1	0	0	0	0	1	0	0	0	8751	565	20	2	366	2	LECT1	13	53282814	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142	53282814	61887064	13815	15961											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	240					6.49762e-13	6.99513e-13	1	1	0	A	53419069	C	A	53419069	5	1	22	1	0	0	0	0	0	0	1	0	11564	695	24	2	377	2	PCDH8	13	53419069	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136255	53419069	61750809	13816	15962											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	368					0	0	1	0	0	A	53419603	G	A	53419603	2	1	22	1	0	0	0	0	0	0	0	1	11564	1078	38	1		1	PCDH8	13	53419603	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	534	53419603	61750275	13817	15963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	87					0	0	1	0	0	T	53420462	C	T	53420462	3	4	22	1	0	0	0	0	1	0	0	0	11564	768	27	1	1114	1	PCDH8	13	53420462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	859	53420462	61749416	13818	15964											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	194					0	0	1	0	0	A	53422137	G	A	53422137	2	1	22	1	0	0	0	0	0	0	0	1	11564	1103	39	1		1	PCDH8	13	53422137	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1675	53422137	61747741	13819	15965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	465					0	0	1	0	0	T	53422316	C	T	53422316	3	4	22	1	0	0	0	0	1	0	0	0	11564	652	23	1	2968	1	PCDH8	13	53422316	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179	53422316	61747562	13820	15966											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	75					0	0	1	0	0	A	53422634	G	A	53422634	1	1	22	1	0	0	0	0	0	0	0	0	11564	1160	40	1		1	PCDH8	13	53422634	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	318	53422634	61747244	13821	15967											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	142					0	0	1	0	0	A	58207971	G	A	58207971	3	1	22	1	0	0	0	0	1	0	0	0	11559	1174	41	2	1293	2	PCDH17	13	58207971	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4785337	58207971	56961907	13822	15968											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	270					0.0293803	0.0294705	1	1	0	T	58240622	G	T	58240622	3	4	22	1	0	0	0	0	1	0	0	0	11559	962	34	2	2592	2	PCDH17	13	58240622	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32651	58240622	56929256	13823	15969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400319.1_Splice_Site|DIAPH3_ENST00000400320.1_Splice_Site|DIAPH3_ENST00000377908.2_Splice_Site|DIAPH3_ENST00000267215.4_Silent_p.G1107G|DIAPH3_ENST00000400330.1_Splice_Site	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													34	239					0	0	1	0	0	C	60348321	A	C	60348321	5	2	22	1	0	0	0	0	0	0	1	0	4548	405	14	3	288	3	DIAPH3	13	60348321	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2107699	60348321	54821557	13824	15970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400319.1_Intron|DIAPH3_ENST00000400320.1_Missense_Mutation_p.A93S|DIAPH3_ENST00000377908.2_Missense_Mutation_p.A93S|DIAPH3_ENST00000267215.4_Missense_Mutation_p.A104S|DIAPH3_ENST00000400330.1_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													126	683					6.25825e-54	7.80561e-54	1	1	0	A	60686224	C	A	60686224	3	1	22	1	0	0	0	0	1	0	0	0	4548	797	28	2	3395	2	DIAPH3	13	60686224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	337903	60686224	54483654	13825	15971											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	859					0	0	1	0	0	A	61986600	G	A	61986600	2	1	22	1	0	0	0	0	0	0	0	1	11562	1048	37	1		1	PCDH20	13	61986600	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1300376	61986600	53183278	13826	15972											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	397					0	0	1	0	0	A	61986877	G	A	61986877	3	1	22	1	0	0	0	0	1	0	0	0	11562	1087	38	1	1504	1	PCDH20	13	61986877	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	277	61986877	53183001	13827	15973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	375					6.01781e-45	7.37136e-45	1	1	0	A	61987229	C	A	61987229	3	1	22	1	0	0	0	0	1	0	0	0	11562	565	20	2	1856	2	PCDH20	13	61987229	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	352	61987229	53182649	13828	15974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000328454.5_Silent_p.G1103G|PCDH9_ENST00000377865.2_Silent_p.G1137G|PCDH9-AS1_ENST00000430861.1_RNA|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													42	252					0	0	1	0	0	G	66879090	A	G	66879090	2	3	22	1	0	0	0	0	0	0	0	1	11565	262	10	3		3	PCDH9	13	66879090	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4891861	66879090	48290788	13829	15975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000328454.5_Missense_Mutation_p.V193M|PCDH9_ENST00000456367.1_Missense_Mutation_p.V193M|PCDH9_ENST00000377865.2_Missense_Mutation_p.V193M|PCDH9_ENST00000377861.3_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													153	624					0	0	1	0	0	T	67801996	C	T	67801996	3	4	22	1	0	0	0	0	1	0	0	0	11565	536	19	1	3152	1	PCDH9	13	67801996	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	922906	67801996	47367882	13830	15976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000328454.5_Missense_Mutation_p.R124M|PCDH9_ENST00000456367.1_Missense_Mutation_p.R124M|PCDH9_ENST00000377865.2_Missense_Mutation_p.R124M|PCDH9_ENST00000377861.3_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													19	450					0.0383953	0.0384977	1	1	0	A	67802202	C	A	67802202	3	1	22	1	0	0	0	0	1	0	0	0	11565	681	24	2	3358	2	PCDH9	13	67802202	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206	67802202	47367676	13831	15977											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	367					0	0	1	0	0	T	70293595	C	T	70293595	3	4	22	1	0	0	0	0	1	0	0	0	8408	661	23	1	337	1	KLHL1	13	70293595	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2491393	70293595	44876283	13832	15978											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	144					2.39556e-15	2.61601e-15	1	1	0	T	70413134	G	T	70413134	3	4	22	1	0	0	0	0	1	0	0	0	8408	971	34	2	882	2	KLHL1	13	70413134	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119539	70413134	44756744	13833	15979											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	380					9.10895e-26	1.04693e-25	1	1	0	A	70681635	C	A	70681635	3	1	22	1	0	0	0	0	1	0	0	0	8408	797	28	2	2093	2	KLHL1	13	70681635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	268501	70681635	44488243	13834	15980											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354591.4_Missense_Mutation_p.R468S|DACH1_ENST00000313174.7_Missense_Mutation_p.R522S|DACH1_ENST00000359684.2_Missense_Mutation_p.R722S	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													200	858					2.38084e-85	3.05127e-85	1	1	0	A	72049848	C	A	72049848	3	1	22	1	0	0	0	0	1	0	0	0	4244	622	22	2	128	2	DACH1	13	72049848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1368213	72049848	43120030	13835	15981											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.P221S	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													61	413					0	0	1	0	0	T	73636671	C	T	73636671	3	4	22	1	0	0	0	0	1	0	0	0	8392	855	30	2	940	2	KLF5	13	73636671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1586823	73636671	41533207	13836	15982											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Silent_p.G157G	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													26	140					0	0	1	0	0	A	74420163	G	A	74420163	2	1	22	1	0	0	0	0	0	0	0	1	8383	1190	42	2		2	KLF12	13	74420163	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	783492	74420163	40749715	13837	15983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431480.2_Silent_p.S943S|TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000377625.2_Silent_p.S888S|TBC1D4_ENST00000425511.1_Silent_p.S115S	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													55	326					3.40343e-31	4.00304e-31	1	1	0	T	75876437	G	T	75876437	2	4	22	1	0	0	0	0	0	0	0	1	15682	987	35	2		2	TBC1D4	13	75876437	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1456274	75876437	39293441	13838	15984											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000460675.1_5'UTR|COMMD6_ENST00000377619.5_Missense_Mutation_p.S46N|COMMD6_ENST00000355801.4_Missense_Mutation_p.S31N|COMMD6_ENST00000406936.3_Missense_Mutation_p.S31N			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													18	391					0	0	1	0	0	T	76104365	C	T	76104365	3	4	22	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	13839	15985											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526202.1_Missense_Mutation_p.R74K|LMO7_ENST00000377534.3_Missense_Mutation_p.R165K|LMO7_ENST00000341547.4_Missense_Mutation_p.R165K|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000465261.2_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													59	349					0	0	1	0	0	A	76369557	G	A	76369557	3	1	22	1	0	0	0	0	1	0	0	0	8896	942	33	2	516	2	LMO7	13	76369557	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	265192	76369557	38800321	13840	15986											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526202.1_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.E428K|LMO7_ENST00000341547.4_Intron|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000321797.8_Missense_Mutation_p.E143K|LMO7_ENST00000465261.2_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													203	1076					0	0	1	0	0	A	76379826	G	A	76379826	3	1	22	1	0	0	0	0	1	0	0	0	8896	943	33	2	1320	2	LMO7	13	76379826	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10269	76379826	38790052	13841	15987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526202.1_Silent_p.L473L|LMO7_ENST00000377534.3_Silent_p.L908L|LMO7_ENST00000341547.4_Silent_p.L574L|LMO7_ENST00000321797.8_Silent_p.L623L|LMO7_ENST00000465261.2_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													17	315					0	0	1	0	0	C	76395671	T	C	76395671	2	2	22	1	0	0	0	0	0	0	0	1	8896	1722	60	3		3	LMO7	13	76395671	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15845	76395671	38774207	13842	15988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526202.1_Missense_Mutation_p.G1225D|LMO7_ENST00000377534.3_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.G1348D|LMO7_ENST00000357063.3_Intron|LMO7_ENST00000465261.2_Intron	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													31	144					0	0	1	0	0	A	76429476	G	A	76429476	3	1	22	1	0	0	0	0	1	0	0	0	8896	1261	44	2	5016	2	LMO7	13	76429476	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33805	76429476	38740402	13843	15989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	31	117					0	0	1	0	0	T	77459400	C	T	77459400	3	4	22	1	0	0	0	0	1	0	0	0	8143	797	28	2	97	2	KCTD12	13	77459400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1029924	77459400	37710478	13844	15990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	99					0	0	1	0	0	A	77460047	G	A	77460047	2	1	22	1	0	0	0	0	0	0	0	1	8143	958	34	2		2	KCTD12	13	77460047	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	647	77460047	37709831	13845	15991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77570262G>T	ENST00000377453.3	+	3	2004	c.712_splice	c.e3+1	p.G238_splice	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													22	524					2.21704e-12	2.37967e-12	1	1	0	T	77570262	G	T	77570262	5	4	22	1	0	0	0	0	0	0	1	0	3567	1014	35	2	722	2	CLN5	13	77570262	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110215	77570262	37599616	13846	15992											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													142	620					1.80369e-55	2.25446e-55	1	1	0	A	77595939	C	A	77595939	3	1	22	1	0	0	0	0	1	0	0	0	5753	912	32	2	1245	2	FBXL3	13	77595939	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25677	77595939	37573939	13847	15993											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	255					0	0	1	0	0	T	77625140	C	T	77625140	3	4	22	1	0	0	0	0	1	0	0	0	10066	478	17	2	131	2	MYCBP2	13	77625140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29201	77625140	37544738	13848	15994											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	332					0	0	1	0	0	A	77632491	G	A	77632491	2	1	22	1	0	0	0	0	0	0	0	1	10066	1079	38	1		1	MYCBP2	13	77632491	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7351	77632491	37537387	13849	15995											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	297					1.00221e-16	1.10252e-16	1	1	0	T	77635368	G	T	77635368	3	4	22	1	0	0	0	0	1	0	0	0	10066	933	33	2	1096	2	MYCBP2	13	77635368	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2877	77635368	37534510	13850	15996											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S3107P|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S3107P	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													15	520					0	0	1	0	0	G	77671856	A	G	77671856	3	3	22	1	0	0	0	0	1	0	0	0	10066	275	10	3	4715	3	MYCBP2	13	77671856	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36488	77671856	37498022	13851	15997											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360084.5_Missense_Mutation_p.D260G|MYCBP2_ENST00000544440.2_Missense_Mutation_p.D2737G|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D2737G	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													19	513					0	0	1	0	0	C	77672965	T	C	77672965	3	2	22	1	0	0	0	0	1	0	0	0	10066	1435	50	3	5824	3	MYCBP2	13	77672965	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1109	77672965	37496913	13852	15998											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407578.2_Intron|MYCBP2_ENST00000544440.2_Intron|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Intron			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													9	58					0	0	1	0	0	A	77692486	G	A	77692486	3	1	22	1	0	0	0	0	1	0	0	0	10066	1015	35	2		2	MYCBP2	13	77692486	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19521	77692486	37477392	13853	15999											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360084.5_Silent_p.S57S|MYCBP2_ENST00000544440.2_Silent_p.S2594S|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.S2594S	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													196	863					0	0	1	0	0	G	77699592	A	G	77699592	2	3	22	1	0	0	0	0	0	0	0	1	10066	175	7	3		3	MYCBP2	13	77699592	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7106	77699592	37470286	13854	16000											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Nonsense_Mutation_p.E2153*|MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.E2153*	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													62	308					3.39796e-24	3.87938e-24	1	1	0	A	77736067	C	A	77736067	4	1	22	1	0	0	0	0	0	1	0	0	10066	835	29	2	7625	2	MYCBP2	13	77736067	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36475	77736067	37433811	13855	16001											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S1960L|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S1960L	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													65	379					0	0	1	0	0	A	77742684	G	A	77742684	3	1	22	1	0	0	0	0	1	0	0	0	10066	1059	37	1	8219	1	MYCBP2	13	77742684	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6617	77742684	37427194	13856	16002											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R1217H|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R1217H	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													81	366					0	0	1	0	0	T	77779470	C	T	77779470	3	4	22	1	0	0	0	0	1	0	0	0	10066	536	19	1	10504	1	MYCBP2	13	77779470	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36786	77779470	37390408	13857	16003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G735V|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G735V	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													13	299					0.00136819	0.0013818	1	1	0	A	77825349	C	A	77825349	3	1	22	1	0	0	0	0	1	0	0	0	10066	855	30	2	11994	2	MYCBP2	13	77825349	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45879	77825349	37344529	13858	16004											
SLAIN1	122060	broad.mit.edu	37	chr13	78320722	78320722	+	Frame_Shift_Del	DEL	A	A	-													agtgtgtcattgagttcaggAaaaaaagggacatgtagtga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:78320722delA	ENST00000466548.1	+	5	950	c.924delA	c.(922-924)ggfs	p.G308fs	SLAIN1_ENST00000267219.8_Frame_Shift_Del_p.G89fs|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000488699.1_Frame_Shift_Del_p.G166fs|SLAIN1_ENST00000418532.1_Frame_Shift_Del_p.G89fs|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000351546.3_Frame_Shift_Del_p.G45fs|SLAIN1_ENST00000358679.3_Frame_Shift_Del_p.G45fs	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	308										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)		TGAGTTCAGGAAAAAAAGGGA	0.388													7	417	---	---	---	---						-	78320722	A	-	78320722	7	5	22	1	0	1	0	1	0	0	0	0	14420	233	9	0	277	0	SLAIN1	13	78320722	Frame_Shift_Del	DEL	A	TCGA-IB-7651-01A-11D-2154-08	495373	78320722	36849156	13859	16005											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	413					0	0	1	0	0	A	78477491	G	A	78477491	4	1	22	1	0	0	0	0	0	1	0	0	4946	1066	37	1	868	1	EDNRB	13	78477491	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156769	78477491	36692387	13860	16006											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475537.1_5'UTR|EDNRB_ENST00000334286.5_Missense_Mutation_p.K51N|EDNRB_ENST00000446573.1_Missense_Mutation_p.K51N	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													46	250					7.77372e-23	8.81276e-23	1	1	0	A	78492556	C	A	78492556	3	1	22	1	0	0	0	0	1	0	0	0	4946	912	32	2	1324	2	EDNRB	13	78492556	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15065	78492556	36677322	13861	16007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000560209.2_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													50	216					0	0	1	0	0	A	79175757	G	A	79175757	2	1	22	1	0	0	0	0	0	0	0	1	12324	1136	40	1		1	POU4F1	13	79175757	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	683201	79175757	35994121	13862	16008											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_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													92	595					1.61229e-46	1.9812e-46	1	1	0	T	79190301	G	T	79190301	3	4	22	1	0	0	0	0	1	0	0	0	13534	971	34	2	589	2	RNF219	13	79190301	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14544	79190301	35979577	13863	16009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_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													45	258					0	0	1	0	0	T	79190435	C	T	79190435	2	4	22	1	0	0	0	0	0	0	0	1	13534	871	31	1		1	RNF219	13	79190435	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134	79190435	35979443	13864	16010											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438724.1_Missense_Mutation_p.K47E|RBM26_ENST00000267229.7_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													36	124					0	0	1	0	0	C	79952975	T	C	79952975	3	2	22	1	0	0	0	0	1	0	0	0	13178	1850	64	3	2883	3	RBM26	13	79952975	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	762540	79952975	35216903	13865	16011											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_052910.1	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													29	137					0	0	1	0	0	T	84453725	C	T	84453725	3	4	22	1	0	0	0	0	1	0	0	0	14796	536	19	1	176	1	SLITRK1	13	84453725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4500750	84453725	30716153	13866	16012											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_052910.1	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													61	347					8.13277e-46	9.98146e-46	1	1	0	T	84454641	G	T	84454641	2	4	22	1	0	0	0	0	0	0	0	1	14796	987	35	2		2	SLITRK1	13	84454641	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	916	84454641	30715237	13867	16013											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_052910.1	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													23	261					0	0	1	0	0	G	84455008	T	G	84455008	3	3	22	1	0	0	0	0	1	0	0	0	14796	1725	60	3	1459	3	SLITRK1	13	84455008	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	367	84455008	30714870	13868	16014											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	455					1.66795e-42	2.03135e-42	1	1	0	A	88328479	C	A	88328479	3	1	22	1	0	0	0	0	1	0	0	0	14800	855	30	2	838	2	SLITRK5	13	88328479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3873471	88328479	26841399	13869	16015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	362					0	0	1	0	0	A	88329152	G	A	88329152	2	1	22	1	0	0	0	0	0	0	0	1	14800	1103	39	1		1	SLITRK5	13	88329152	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	673	88329152	26840726	13870	16016	101	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	356					2.13431e-38	2.57195e-38	1	1	0	A	88329162	C	A	88329162	3	1	22	1	0	0	0	0	1	0	0	0	14800	681	24	2	1521	2	SLITRK5	13	88329162	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10	88329162	26840716	13871	16017	101	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	429					0	0	1	0	0	G	88329270	T	G	88329270	3	3	22	1	0	0	0	0	1	0	0	0	14800	1606	56	3	1629	3	SLITRK5	13	88329270	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	108	88329270	26840608	13872	16018											
SLITRK5	26050	broad.mit.edu	37	chr13	88329784	88329784	+	Missense_Mutation	SNP	A	A	G													gagctcctttaacatgcagtAcagcgtgtacggcggcggcg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	425					0	0	1	0	0	G	88329784	A	G	88329784	3	3	22	1	0	0	0	0	1	0	0	0	14800	391	14	3	2143	3	SLITRK5	13	88329784	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	514	88329784	26840094	13873	16019	102	2									
SLITRK5	26050	broad.mit.edu	37	chr13	88329794	88329796	+	In_Frame_Del	DEL	CGG	CGG	-													aacatgcagtacagcgtgtaCggcggcggcggcggcacggg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329794_88329796delCGG	ENST00000325089.6	+	2	2370_2372	c.2151_2153delCGG	c.(2149-2154)tac>ta	p.YG717del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	717						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)					ACAGCGTGTACGGCGGCGGCGGC	0.645													8	479	---	---	---	---						-	88329796	CGG	-	88329794	7	5	22	1	0	1	0	1	0	0	0	0	14800	547	19	0	2153	0	SLITRK5	13	88329794	In_Frame_Del	DEL	CGG	TCGA-IB-7651-01A-11D-2154-08	10	88329794	26840084	13874	16020	102	2									
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	321					0	0	1	0	0	C	92101141	A	C	92101141	3	2	22	1	0	0	0	0	1	0	0	0	6641	72	3	3	296	3	GPC5	13	92101141	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3771347	92101141	23068737	13875	16021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	420					0	0	1	0	0	T	93518645	A	T	93518645	3	4	22	1	0	0	0	0	1	0	0	0	6641	275	10	5	1702	5	GPC5	13	93518645	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1417504	93518645	21651233	13876	16022											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	364					5.39075e-54	6.72428e-54	1	1	0	A	95092163	C	A	95092163	4	1	22	1	0	0	0	0	0	1	0	0	4327	922	32	2	14	2	DCT	13	95092163	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1573518	95092163	20077715	13877	16023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	172					1.90571e-15	2.08261e-15	1	1	0	A	95118886	C	A	95118886	3	1	22	1	0	0	0	0	1	0	0	0	4327	913	32	2	1068	2	DCT	13	95118886	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26723	95118886	20050992	13878	16024											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	131					0	0	1	0	0	T	95131483	C	T	95131483	2	4	22	1	0	0	0	0	0	0	0	1	4327	697	25	2		2	DCT	13	95131483	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12597	95131483	20038395	13879	16025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	46					0	0	1	0	0	A	95131562	G	A	95131562	1	1	22	1	0	0	0	0	0	0	0	0	4327	1160	40	1		1	DCT	13	95131562	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79	95131562	20038316	13880	16026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	312					0	0	1	0	0	A	95735417	T	A	95735417	3	1	22	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	13881	16027											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	207					0	0	1	0	0	T	95813533	C	T	95813533	3	4	22	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	13882	16028											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431522.1_Missense_Mutation_p.Y135H|ABCC4_ENST00000536256.1_Intron|ABCC4_ENST00000538287.1_3'UTR|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													25	109					0	0	1	0	0	G	95886992	A	G	95886992	3	3	22	1	0	0	0	0	1	0	0	0	55	391	14	3	3735	3	ABCC4	13	95886992	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	73459	95886992	19282886	13883	16029											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	283					0	0	1	0	0	A	96258277	G	A	96258277	3	1	22	1	0	0	0	0	1	0	0	0	4889	1294	45	2	1186	2	DZIP1	13	96258277	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	371285	96258277	18911601	13884	16030											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	238					3.62473e-10	3.83521e-10	1	1	0	A	96285517	C	A	96285517	3	1	22	1	0	0	0	0	1	0	0	0	4889	768	27	4	2019	4	DZIP1	13	96285517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27240	96285517	18884361	13885	16031											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000466027.1_5'UTR|DZIP1_ENST00000361156.3_Missense_Mutation_p.G156D			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													35	190					0	0	1	0	0	T	96293679	C	T	96293679	3	4	22	1	0	0	0	0	1	0	0	0	4889	739	26	2	2212	2	DZIP1	13	96293679	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8162	96293679	18876199	13886	16032											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	211					0	0	1	0	0	C	96409944	A	C	96409944	3	2	22	1	0	0	0	0	1	0	0	0	4674	130	5	3	458	3	DNAJC3	13	96409944	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	116265	96409944	18759934	13887	16033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	471					0	0	1	0	0	G	96443261	A	G	96443261	3	3	22	1	0	0	0	0	1	0	0	0	4674	412	15	3	1538	3	DNAJC3	13	96443261	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33317	96443261	18726617	13888	16034											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397601.1_Silent_p.R29R|MBNL2_ENST00000445661.2_Silent_p.R29R|MBNL2_ENST00000343600.4_Silent_p.R29R|MBNL2_ENST00000376673.3_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													100	548					0	0	1	0	0	T	97928576	C	T	97928576	2	4	22	1	0	0	0	0	0	0	0	1	9404	784	28	2		2	MBNL2	13	97928576	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1485315	97928576	17241302	13889	16035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343600.4_Silent_p.E331E|MBNL2_ENST00000345429.6_3'UTR|MBNL2_ENST00000397601.1_Silent_p.E331E|MBNL2_ENST00000445661.2_Silent_p.E176E			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													45	305					0	0	1	0	0	G	98043610	A	G	98043610	2	3	22	1	0	0	0	0	0	0	0	1	9404	98	4	3		3	MBNL2	13	98043610	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	115034	98043610	17126268	13890	16036											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	523					0	0	1	0	0	A	98086853	G	A	98086853	2	1	22	1	0	0	0	0	0	0	0	1	13092	933	33	2		2	RAP2A	13	98086853	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43243	98086853	17083025	13891	16037											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_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													69	297					0	0	1	0	0	A	98828993	G	A	98828993	2	1	22	1	0	0	0	0	0	0	0	1	13480	1020	36	2		2	RNF113B	13	98828993	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	742140	98828993	16340885	13892	16038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_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													50	276					0	0	1	0	0	A	98829110	G	A	98829110	2	1	22	1	0	0	0	0	0	0	0	1	13480	1164	41	2		2	RNF113B	13	98829110	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117	98829110	16340768	13893	16039											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	340					1.74807e-11	1.86564e-11	1	1	0	A	99047599	C	A	99047599	3	1	22	1	0	0	0	0	1	0	0	0	5709	681	24	2	1552	2	FARP1	13	99047599	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218489	99047599	16122279	13894	16040											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	255					0	0	1	0	0	T	99061637	C	T	99061637	3	4	22	1	0	0	0	0	1	0	0	0	5709	893	31	1	1733	1	FARP1	13	99061637	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14038	99061637	16108241	13895	16041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	368					0	0	1	0	0	C	99099020	T	C	99099020	3	2	22	1	0	0	0	0	1	0	0	0	5709	1783	62	3	3326	3	FARP1	13	99099020	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37383	99099020	16070858	13896	16042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000339416.2_Missense_Mutation_p.F1170C|DOCK9_ENST00000461998.1_5'UTR|DOCK9_ENST00000448493.2_Missense_Mutation_p.F1181C|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													14	40					0	0	1	0	0	C	99515346	A	C	99515346	3	2	22	1	0	0	0	0	1	0	0	0	4721	14	1	3	2861	3	DOCK9	13	99515346	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	416326	99515346	15654532	13897	16043											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	177					0	0	1	0	0	T	99667822	C	T	99667822	3	4	22	1	0	0	0	0	1	0	0	0	4721	783	27	1		1	DOCK9	13	99667822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152476	99667822	15502056	13898	16044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_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													30	458					1.75199e-13	1.89187e-13	1	1	0	T	99947758	G	T	99947758	2	4	22	1	0	0	0	0	0	0	0	1	6718	932	33	2		2	GPR183	13	99947758	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	279936	99947758	15222120	13899	16045											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	425					0	0	1	0	0	C	100193890	A	C	100193890	3	2	22	1	0	0	0	0	1	0	0	0	16038	333	12	3	1020	3	TM9SF2	13	100193890	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	246132	100193890	14975988	13900	16046											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	539					2.6418e-55	3.30104e-55	1	1	0	A	100617847	C	A	100617847	2	1	22	1	0	0	0	0	0	0	0	1	17740	842	30	2		2	ZIC5	13	100617847	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423957	100617847	14552031	13901	16047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	671					0	0	1	0	0	A	100635292	G	A	100635292	3	1	22	1	0	0	0	0	1	0	0	0	17737	1087	38	1	976	1	ZIC2	13	100635292	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17445	100635292	14534586	13902	16048											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	458					1.42748e-55	1.78476e-55	1	1	0	A	100637299	C	A	100637299	3	1	22	1	0	0	0	0	1	0	0	0	17737	623	22	2	1181	2	ZIC2	13	100637299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2007	100637299	14532579	13903	16049											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	392					0	0	1	0	0	T	100637318	C	T	100637318	2	4	22	1	0	0	0	0	0	0	0	1	17737	776	27	1		1	ZIC2	13	100637318	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	100637318	14532560	13904	16050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000328767.5_Missense_Mutation_p.D605G|TMTC4_ENST00000376234.3_Missense_Mutation_p.D716G	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													106	625					0	0	1	0	0	C	101257327	T	C	101257327	3	2	22	1	0	0	0	0	1	0	0	0	16323	1667	58	3	82	3	TMTC4	13	101257327	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	620009	101257327	13912551	13905	16051											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000328767.5_Missense_Mutation_p.R301H|TMTC4_ENST00000376234.3_Missense_Mutation_p.R412H|TMTC4_ENST00000462211.1_5'UTR	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													22	170					0	0	1	0	0	T	101287360	C	T	101287360	3	4	22	1	0	0	0	0	1	0	0	0	16323	536	19	1	1026	1	TMTC4	13	101287360	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30033	101287360	13882518	13906	16052											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000328767.5_Missense_Mutation_p.M230I|TMTC4_ENST00000376234.3_Missense_Mutation_p.M341I|TMTC4_ENST00000462211.1_5'UTR	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													14	468					0	0	1	0	0	T	101288908	C	T	101288908	3	4	22	1	0	0	0	0	1	0	0	0	16323	594	21	2	1242	2	TMTC4	13	101288908	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1548	101288908	13880970	13907	16053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	343					0	0	1	0	0	A	101710303	G	A	101710303	3	1	22	1	0	0	0	0	1	0	0	0	10196	1087	38	1	213	1	NALCN	13	101710303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	421395	101710303	13459575	13908	16054											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	302					0	0	1	0	0	T	101714357	C	T	101714357	3	4	22	1	0	0	0	0	1	0	0	0	10196	768	27	1	514	1	NALCN	13	101714357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4054	101714357	13455521	13909	16055											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	296					0	0	1	0	0	C	101735213	T	C	101735213	3	2	22	1	0	0	0	0	1	0	0	0	10196	1667	58	3	1552	3	NALCN	13	101735213	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20856	101735213	13434665	13910	16056											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	435					0	0	1	0	0	T	101777028	C	T	101777028	3	4	22	1	0	0	0	0	1	0	0	0	10196	768	27	1	3201	1	NALCN	13	101777028	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41815	101777028	13392850	13911	16057											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	270					0	0	1	0	0	A	102568812	G	A	102568812	3	1	22	1	0	0	0	0	1	0	0	0	5876	1086	38	1	579	1	FGF14	13	102568812	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	791784	102568812	12601066	13912	16058											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	181					0	0	1	0	0	G	102568890	T	G	102568890	3	3	22	1	0	0	0	0	1	0	0	0	5876	1783	62	3	657	3	FGF14	13	102568890	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	78	102568890	12600988	13913	16059											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	103					9.80776e-20	1.0954e-19	1	1	0	A	103249462	C	A	103249462	3	1	22	1	0	0	0	0	1	0	0	0	16473	855	30	2	76	2	TPP2	13	103249462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	680572	103249462	11920416	13914	16060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	343					7.07328e-35	8.4269e-35	1	1	0	A	103288009	C	A	103288009	3	1	22	1	0	0	0	0	1	0	0	0	16473	797	28	2	1512	2	TPP2	13	103288009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38547	103288009	11881869	13915	16061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	327					0	0	1	0	0	A	103440220	G	A	103440220	2	1	22	1	0	0	0	0	0	0	0	1	8161	1074	38	1		1	KDELC1	13	103440220	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152211	103440220	11729658	13916	16062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	259					0	0	1	0	0	A	103441551	G	A	103441551	2	1	22	1	0	0	0	0	0	0	0	1	8161	1048	37	1		1	KDELC1	13	103441551	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1331	103441551	11728327	13917	16063											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	243					0	0	1	0	0	C	103450919	T	C	103450919	3	2	22	1	0	0	0	0	1	0	0	0	8161	1396	49	3	1446	3	KDELC1	13	103450919	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9368	103450919	11718959	13918	16064											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000114.2			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				43	299					0	0	1	0	0	T	103504492	C	T	103504492	3	4	22	1	0	0	0	0	1	0	0	0	5244	710	25	2	119	2	ERCC5	13	103504492	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53573	103504492	11665386	13919	16065											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	349					8.81991e-31	1.03612e-30	1	1	0	T	107145730	G	T	107145730	2	4	22	1	0	0	0	0	0	0	0	1	4982	1164	41	2		2	EFNB2	13	107145730	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3641238	107145730	8024148	13920	16066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	794					0	0	1	0	0	A	107211878	G	A	107211878	4	1	22	1	0	0	0	0	0	1	0	0	857	1124	39	1	358	1	ARGLU1	13	107211878	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66148	107211878	7958000	13921	16067											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													165	906					0	0	1	0	0	T	108518818	C	T	108518818	3	4	22	1	0	0	0	0	1	0	0	0	5495	739	26	2	1261	2	FAM155A	13	108518818	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1306940	108518818	6651060	13922	16068											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405925.1_Missense_Mutation_p.L845P|LIG4_ENST00000442234.1_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					10	366					0	0	1	0	0	G	108861083	A	G	108861083	3	3	22	1	0	0	0	0	1	0	0	0	8823	72	3	3	205	3	LIG4	13	108861083	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	342265	108861083	6308795	13923	16069											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405925.1_Missense_Mutation_p.A839D|LIG4_ENST00000442234.1_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					59	305					2.23044e-30	2.6157e-30	1	1	0	T	108861101	G	T	108861101	3	4	22	1	0	0	0	0	1	0	0	0	8823	971	34	2	223	2	LIG4	13	108861101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18	108861101	6308777	13924	16070											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405925.1_Missense_Mutation_p.T575A|LIG4_ENST00000442234.1_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					9	320					0	0	1	0	0	C	108861894	T	C	108861894	3	2	22	1	0	0	0	0	1	0	0	0	8823	1696	59	3	1016	3	LIG4	13	108861894	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	793	108861894	6307984	13925	16071											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405925.1_Nonsense_Mutation_p.Y525*|LIG4_ENST00000442234.1_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					101	512					0	0	1	0	0	C	108862042	A	C	108862042	4	2	22	1	0	0	0	0	0	1	0	0	8823	108	4	3	1164	3	LIG4	13	108862042	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	148	108862042	6307836	13926	16072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405925.1_Missense_Mutation_p.Y130C|LIG4_ENST00000442234.1_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					148	571					0	0	1	0	0	C	108863228	T	C	108863228	3	2	22	1	0	0	0	0	1	0	0	0	8823	1406	49	3	2350	3	LIG4	13	108863228	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1186	108863228	6306650	13927	16073											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	224					0	0	1	0	0	A	108881891	G	A	108881891	3	1	22	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	13928	16074											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	552					0	0	1	0	0	T	109475617	C	T	109475617	3	4	22	1	0	0	0	0	1	0	0	0	10112	893	31	1	1052	1	MYO16	13	109475617	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	593726	109475617	5694261	13929	16075											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457511.2_Missense_Mutation_p.E301D|MYO16_ENST00000357550.2_Missense_Mutation_p.E789D|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													39	144					0	0	1	0	0	C	109644787	A	C	109644787	3	2	22	1	0	0	0	0	1	0	0	0	10112	98	4	3	2445	3	MYO16	13	109644787	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	169170	109644787	5525091	13930	16076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000439299.1_RNA|MYO16_ENST00000357550.2_Missense_Mutation_p.T1722I	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													23	115					0	0	1	0	0	T	109817315	C	T	109817315	3	4	22	1	0	0	0	0	1	0	0	0	10112	565	20	2	5291	2	MYO16	13	109817315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172528	109817315	5352563	13931	16077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	61					0	0	1	0	0	C	110435097	T	C	110435097	3	2	22	1	0	0	0	0	1	0	0	0	7885	1667	58	3	720	3	IRS2	13	110435097	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	617782	110435097	4734781	13932	16078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	81					0	0	1	0	0	T	110436549	C	T	110436549	3	4	22	1	0	0	0	0	1	0	0	0	7885	768	27	1	2172	1	IRS2	13	110436549	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1452	110436549	4733329	13933	16079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	238					1.59361e-14	1.73214e-14	1	1	0	A	110828977	C	A	110828977	3	1	22	1	0	0	0	0	1	0	0	0	3712	796	28	2	2117	2	COL4A1	13	110828977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	392428	110828977	4340901	13934	16080											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	178					6.14515e-18	6.80267e-18	1	1	0	A	110853794	C	A	110853794	3	1	22	1	0	0	0	0	1	0	0	0	3712	681	24	2	4070	2	COL4A1	13	110853794	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24817	110853794	4316084	13935	16081											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	696					0	0	1	0	0	A	111111123	G	A	111111123	3	1	22	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	13936	16082											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	362					0	0	1	0	0	T	111118398	C	T	111118398	3	4	22	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	13937	16083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	148					6.19805e-25	7.1e-25	1	1	0	T	111130421	G	T	111130421	3	4	22	1	0	0	0	0	1	0	0	0	3713	1000	35	2	2611	2	COL4A2	13	111130421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12023	111130421	4039457	13938	16084											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	399					0	0	1	0	0	C	111164356	A	C	111164356	3	2	22	1	0	0	0	0	1	0	0	0	3713	159	6	3	5143	3	COL4A2	13	111164356	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33935	111164356	4005522	13939	16085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	245					6.00099e-30	7.02477e-30	1	1	0	T	111329415	G	T	111329415	3	4	22	1	0	0	0	0	1	0	0	0	2676	991	35	2	1039	2	CARS2	13	111329415	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165059	111329415	3840463	13940	16086											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													258	1084					0	0	1	0	0	T	111340107	C	T	111340107	3	4	22	1	0	0	0	0	1	0	0	0	2676	690	24	2	1206	2	CARS2	13	111340107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10692	111340107	3829771	13941	16087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	155					0	0	1	0	0	T	111366616	C	T	111366616	2	4	22	1	0	0	0	0	0	0	0	1	7779	874	31	1		1	ING1	13	111366616	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26509	111366616	3803262	13942	16088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000464141.1_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000338450.7_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													15	57					2.61681e-11	2.78987e-11	1	1	0	A	111368056	C	A	111368056	3	1	22	1	0	0	0	0	1	0	0	0	7779	681	24	2	416	2	ING1	13	111368056	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1440	111368056	3801822	13943	16089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000218789.5_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.Y204H|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.Y247H|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.Y194H|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.Y41H|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.Y276H|ARHGEF7_ENST00000426073.2_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													36	149					0	0	1	0	0	C	111896285	T	C	111896285	3	2	22	1	0	0	0	0	1	0	0	0	908	1638	57	3	919	3	ARHGEF7	13	111896285	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	528229	111896285	3273593	13944	16090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375737.5_Missense_Mutation_p.P642S|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P567S|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P567S			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													48	367					0	0	1	0	0	T	111953130	C	T	111953130	3	4	22	1	0	0	0	0	1	0	0	0	908	855	30	2	2530	2	ARHGEF7	13	111953130	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56845	111953130	3216748	13945	16091											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	428					0	0	1	0	0	T	113174253	C	T	113174253	3	4	22	1	0	0	0	0	1	0	0	0	16829	768	27	1	927	1	TUBGCP3	13	113174253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1221123	113174253	1995625	13946	16092											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	154					1.26612e-14	1.37737e-14	1	1	0	T	113333706	G	T	113333706	4	4	22	1	0	0	0	0	0	1	0	0	1735	943	33	2	15	2	C13orf35	13	113333706	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	159453	113333706	1836172	13947	16093											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375630.2_Silent_p.I50I|ATP11A_ENST00000283558.8_Silent_p.I50I|ATP11A_ENST00000375645.3_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													50	366					0	0	1	0	0	T	113439559	C	T	113439559	2	4	22	1	0	0	0	0	0	0	0	1	1118	874	31	1		1	ATP11A	13	113439559	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105853	113439559	1730319	13948	16094											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375630.2_Nonsense_Mutation_p.R286*|ATP11A_ENST00000283558.8_Nonsense_Mutation_p.R286*|ATP11A_ENST00000375645.3_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													18	285					0	0	1	0	0	T	113478723	C	T	113478723	4	4	22	1	0	0	0	0	0	1	0	0	1118	760	27	1	894	1	ATP11A	13	113478723	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39164	113478723	1691155	13949	16095											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375630.2_Missense_Mutation_p.R600C|ATP11A_ENST00000283558.8_Missense_Mutation_p.R600C|ATP11A_ENST00000375645.3_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													14	41					0	0	1	0	0	T	113496682	C	T	113496682	3	4	22	1	0	0	0	0	1	0	0	0	1118	768	27	1	1864	1	ATP11A	13	113496682	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17959	113496682	1673196	13950	16096											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000421756.1_Missense_Mutation_p.R29M|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000397030.1_Intron			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													40	113					1.96642e-18	2.182e-18	1	1	0	T	113634067	G	T	113634067	3	4	22	1	0	0	0	0	1	0	0	0	9429	1000	35	2	342	2	MCF2L	13	113634067	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137385	113634067	1535811	13951	16097											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000421756.1_Missense_Mutation_p.S773I|MCF2L_ENST00000535094.2_Missense_Mutation_p.S769I|MCF2L_ENST00000434480.2_Missense_Mutation_p.S775I|MCF2L_ENST00000442652.2_Missense_Mutation_p.S799I|MCF2L_ENST00000375608.3_Missense_Mutation_p.S799I|MCF2L_ENST00000375604.2_Missense_Mutation_p.S826I|MCF2L_ENST00000375597.4_Missense_Mutation_p.S767I|MCF2L_ENST00000375601.3_Missense_Mutation_p.S773I|MCF2L_ENST00000423482.2_Missense_Mutation_p.S767I			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													49	184					4.64027e-19	5.16652e-19	1	1	0	T	113740496	G	T	113740496	3	4	22	1	0	0	0	0	1	0	0	0	9429	971	34	2	2654	2	MCF2L	13	113740496	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106429	113740496	1429382	13952	16098											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	389					0	0	1	0	0	A	113803401	G	A	113803401	3	1	22	1	0	0	0	0	1	0	0	0	5364	1145	40	1	1067	1	F10	13	113803401	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62905	113803401	1366477	13953	16099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	434					8.04996e-18	8.90737e-18	1	1	0	T	113803648	G	T	113803648	3	4	22	1	0	0	0	0	1	0	0	0	5364	991	35	2	1314	2	F10	13	113803648	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	247	113803648	1366230	13954	16100											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	432					2.0493e-37	2.46103e-37	1	1	0	A	113803779	C	A	113803779	3	1	22	1	0	0	0	0	1	0	0	0	5364	623	22	2	1445	2	F10	13	113803779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131	113803779	1366099	13955	16101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	52					0	0	1	0	0	T	113813025	C	T	113813025	2	4	22	1	0	0	0	0	0	0	0	1	12614	842	30	2		2	PROZ	13	113813025	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9246	113813025	1356853	13956	16102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	542					0	0	1	0	0	T	113975904	C	T	113975904	4	4	22	1	0	0	0	0	0	1	0	0	8656	760	27	1	1006	1	LAMP1	13	113975904	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	162879	113975904	1193974	13957	16103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	381					0	0	1	0	0	T	113980393	C	T	113980393	2	4	22	1	0	0	0	0	0	0	0	1	6851	639	23	1		1	GRTP1	13	113980393	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4489	113980393	1189485	13958	16104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	312					0	0	1	0	0	C	114156189	T	C	114156189	2	2	22	1	0	0	0	0	0	0	0	1	16057	1635	57	3		3	TMCO3	13	114156189	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	175796	114156189	1013689	13959	16105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544902.1_Silent_p.R73R|TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000538138.1_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)			70	424					0	0	1	0	0	T	114288234	C	T	114288234	2	4	22	1	0	0	0	0	0	0	0	1	15857	755	27	1		1	TFDP1	13	114288234	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132045	114288234	881644	13960	16106											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	270					2.24722e-20	2.51766e-20	1	1	0	T	114321980	G	T	114321980	3	4	22	1	0	0	0	0	1	0	0	0	6831	991	35	2	281	2	GRK1	13	114321980	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33746	114321980	847898	13961	16107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000480426.1_5'UTR|GAS6_ENST00000450766.1_Missense_Mutation_p.V237M|GAS6_ENST00000355761.4_Missense_Mutation_p.V456M|GAS6_ENST00000418959.3_Missense_Mutation_p.V211M|GAS6-AS1_ENST00000458001.1_RNA			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													57	370					0	0	1	0	0	T	114526473	C	T	114526473	3	4	22	1	0	0	0	0	1	0	0	0	6289	536	19	1	520	1	GAS6	13	114526473	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	204493	114526473	643405	13962	16108											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000480426.1_5'UTR|GAS6_ENST00000450766.1_Missense_Mutation_p.T188M|GAS6_ENST00000355761.4_Missense_Mutation_p.T407M|GAS6_ENST00000418959.3_Missense_Mutation_p.T162M|GAS6-AS1_ENST00000458001.1_RNA			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													62	325					0	0	1	0	0	A	114530064	G	A	114530064	3	1	22	1	0	0	0	0	1	0	0	0	6289	1145	40	1	670	1	GAS6	13	114530064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3591	114530064	639814	13963	16109											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000480426.1_5'UTR|GAS6_ENST00000450766.1_Missense_Mutation_p.A131V|GAS6_ENST00000355761.4_Missense_Mutation_p.A350V|GAS6_ENST00000418959.3_Missense_Mutation_p.A105V|GAS6-AS1_ENST00000458001.1_RNA			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													74	315					0	0	1	0	0	A	114531617	G	A	114531617	3	1	22	1	0	0	0	0	1	0	0	0	6289	1087	38	1	845	1	GAS6	13	114531617	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1553	114531617	638261	13964	16110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	428					0	0	1	0	0	A	114541118	G	A	114541118	2	1	22	1	0	0	0	0	0	0	0	1	6289	1195	42	2		2	GAS6	13	114541118	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9501	114541118	628760	13965	16111											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334062.7_Silent_p.V142V|RASA3_ENST00000389544.4_Silent_p.V110V			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													5	35					0	0	1	0	0	A	114795310	G	A	114795310	3	1	22	1	0	0	0	0	1	0	0	0	13114	1045	37	1	2158	1	RASA3	13	114795310	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	254192	114795310	374568	13966	16112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000252457.5_Missense_Mutation_p.D38Y|CDC16_ENST00000375310.1_5'UTR|CDC16_ENST00000356221.3_Missense_Mutation_p.D39Y|CDC16_ENST00000375308.1_5'UTR|CDC16_ENST00000375312.3_5'UTR|CDC16_ENST00000252458.6_5'UTR	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													100	485					1.41717e-37	1.7028e-37	1	1	0	T	115002285	G	T	115002285	3	4	22	1	0	0	0	0	1	0	0	0	3080	1174	41	2	125	2	CDC16	13	115002285	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	206975	115002285	167593	13967	16113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	168					0	0	1	0	0	T	115070355	C	T	115070355	3	4	22	1	0	0	0	0	1	0	0	0	17065	893	31	1	1432	1	UPF3A	13	115070355	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68070	115070355	99523	13968	16114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	451					0	0	1	0	0	T	19377733	C	T	19377733	3	4	22	1	0	0	0	0	1	0	0	0	10975	565	20	2	142	2	OR11H12	14	19377733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08		19377733	87971807	13969	16115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	519					0	0	1	0	0	C	19566057	A	C	19566057	3	2	22	1	0	0	0	0	1	0	0	0	12313	69	3	3	1123	3	POTEG	14	19566057	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	188324	19566057	87783483	13970	16116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	649					0	0	1	0	0	T	20215653	C	T	20215653	2	4	22	1	0	0	0	0	0	0	0	1	11129	796	28	2		2	OR4Q3	14	20215653	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	649596	20215653	87133887	13971	16117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	383					0	0	1	0	0	T	20216181	C	T	20216181	2	4	22	1	0	0	0	0	0	0	0	1	11129	796	28	2		2	OR4Q3	14	20216181	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	528	20216181	87133359	13972	16118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	581					0	0	1	0	0	A	20216295	G	A	20216295	3	1	22	1	0	0	0	0	1	0	0	0	11129	1261	44	2	711	2	OR4Q3	14	20216295	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114	20216295	87133245	13973	16119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													185	1343					2.68655e-49	3.32282e-49	1	1	0	A	20248580	C	A	20248580	2	1	22	1	0	0	0	0	0	0	0	1	11123	668	24	2		2	OR4M1	14	20248580	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32285	20248580	87100960	13974	16120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													186	1152					4.61678e-68	5.85161e-68	1	1	0	A	20249045	C	A	20249045	2	1	22	1	0	0	0	0	0	0	0	1	11123	668	24	2		2	OR4M1	14	20249045	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	465	20249045	87100495	13975	16121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	884					3.62473e-10	3.83521e-10	1	1	0	A	20296207	C	A	20296207	2	1	22	1	0	0	0	0	0	0	0	1	11125	900	32	2		2	OR4N2	14	20296207	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47162	20296207	87053333	13976	16122											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	206					0	0	1	0	0	G	20296521	A	G	20296521	3	3	22	1	0	0	0	0	1	0	0	0	11125	159	6	3	916	3	OR4N2	14	20296521	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	314	20296521	87053019	13977	16123											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													196	1335					1.15629e-50	1.43295e-50	1	1	0	T	20389182	G	T	20389182	3	4	22	1	0	0	0	0	1	0	0	0	11121	1165	41	2	419	2	OR4K5	14	20389182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92661	20389182	86960358	13978	16124											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	757					2.65435e-51	3.29351e-51	1	1	0	A	20404104	C	A	20404104	2	1	22	1	0	0	0	0	0	0	0	1	11115	668	24	2		2	OR4K1	14	20404104	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14922	20404104	86945436	13979	16125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	641					3.86735e-44	4.73008e-44	1	1	0	T	20404198	G	T	20404198	3	4	22	1	0	0	0	0	1	0	0	0	11115	971	34	2	375	2	OR4K1	14	20404198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94	20404198	86945342	13980	16126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	175					0	0	1	0	0	T	20482665	C	T	20482665	3	4	22	1	0	0	0	0	1	0	0	0	11117	710	25	2	247	2	OR4K14	14	20482665	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78467	20482665	86866875	13981	16127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	229					6.21074e-16	6.80439e-16	1	1	0	A	20483064	C	A	20483064	4	1	22	1	0	0	0	0	0	1	0	0	11117	690	24	2	646	2	OR4K14	14	20483064	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	399	20483064	86866476	13982	16128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	271					6.08268e-21	6.83416e-21	1	1	0	A	20666038	C	A	20666038	3	1	22	1	0	0	0	0	1	0	0	0	10973	913	32	2	546	2	OR11G2	14	20666038	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182974	20666038	86683502	13983	16129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													175	881					0	0	1	0	0	T	20666258	C	T	20666258	3	4	22	1	0	0	0	0	1	0	0	0	10973	855	30	2	766	2	OR11G2	14	20666258	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	220	20666258	86683282	13984	16130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	471					0	0	1	0	0	C	20692788	T	C	20692788	3	2	22	1	0	0	0	0	1	0	0	0	10977	1435	50	3	922	3	OR11H6	14	20692788	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26530	20692788	86656752	13985	16131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	330					0	0	1	0	0	T	20767555	C	T	20767555	3	4	22	1	0	0	0	0	1	0	0	0	16773	652	23	1	901	1	TTC5	14	20767555	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74767	20767555	86581985	13986	16132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	367					6.97489e-18	7.71847e-18	1	1	0	A	20770011	C	A	20770011	3	1	22	1	0	0	0	0	1	0	0	0	16773	796	28	2	1193	2	TTC5	14	20770011	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2456	20770011	86579529	13987	16133											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398160.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000358932.4_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								43	248					0	0	1	0	0	G	20784609	A	G	20784609	3	3	22	1	0	0	0	0	1	0	0	0	2934	275	10	3	771	3	CCNB1IP1	14	20784609	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14598	20784609	86564931	13988	16134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429687.3_Missense_Mutation_p.T540A|PARP2_ENST00000527915.1_3'UTR	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					77	408					0	0	1	0	0	G	20825861	A	G	20825861	3	3	22	1	0	0	0	0	1	0	0	0	11508	391	14	3	1719	3	PARP2	14	20825861	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41252	20825861	86523679	13989	16135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556935.1_Silent_p.N2191N|TEP1_ENST00000545983.1_Silent_p.N637N	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													68	326					0	0	1	0	0	G	20841224	A	G	20841224	2	3	22	1	0	0	0	0	0	0	0	1	15818	330	12	3		3	TEP1	14	20841224	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15363	20841224	86508316	13990	16136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556935.1_Missense_Mutation_p.R2113Q|TEP1_ENST00000545983.1_Missense_Mutation_p.R559Q	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													44	189					0	0	1	0	0	T	20841685	C	T	20841685	3	4	22	1	0	0	0	0	1	0	0	0	15818	652	23	1	1261	1	TEP1	14	20841685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	461	20841685	86507855	13991	16137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556935.1_Silent_p.E2100E|TEP1_ENST00000545983.1_Silent_p.E546E	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													17	235					0	0	1	0	0	T	20841723	C	T	20841723	2	4	22	1	0	0	0	0	0	0	0	1	15818	796	28	2		2	TEP1	14	20841723	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38	20841723	86507817	13992	16138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556935.1_Missense_Mutation_p.D2010N|TEP1_ENST00000545983.1_Missense_Mutation_p.D456N	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													33	161					0	0	1	0	0	T	20843925	C	T	20843925	3	4	22	1	0	0	0	0	1	0	0	0	15818	913	32	2	1583	2	TEP1	14	20843925	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2202	20843925	86505615	13993	16139											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556935.1_Missense_Mutation_p.R1331Q|TEP1_ENST00000545983.1_5'UTR	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													55	272					0	0	1	0	0	T	20850180	C	T	20850180	3	4	22	1	0	0	0	0	1	0	0	0	15818	652	23	1	3671	1	TEP1	14	20850180	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6255	20850180	86499360	13994	16140											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	213					0	0	1	0	0	T	20872901	C	T	20872901	3	4	22	1	0	0	0	0	1	0	0	0	15818	536	19	1	7186	1	TEP1	14	20872901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22721	20872901	86476639	13995	16141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000554249.1_Missense_Mutation_p.V60I|OSGEP_ENST00000206542.4_Missense_Mutation_p.V242I			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													58	532					0	0	1	0	0	T	20916132	C	T	20916132	3	4	22	1	0	0	0	0	1	0	0	0	11334	507	18	2	299	2	OSGEP	14	20916132	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43231	20916132	86433408	13996	16142											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	341					0	0	1	0	0	A	20922835	G	A	20922835	3	1	22	1	0	0	0	0	1	0	0	0	11334	1087	38	1	1043	1	OSGEP	14	20922835	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6703	20922835	86426705	13997	16143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	593					0	0	1	0	0	A	20928928	G	A	20928928	2	1	22	1	0	0	0	0	0	0	0	1	16242	1194	42	2		2	TMEM55B	14	20928928	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6093	20928928	86420612	13998	16144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	170					0	0	1	0	0	A	20940628	G	A	20940628	3	1	22	1	0	0	0	0	1	0	0	0	12211	1058	37	1	179	1	PNP	14	20940628	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11700	20940628	86408912	13999	16145											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21052116C>A	ENST00000335950.4	-	3	980	c.518G>T	c.(517-519)aGt>aTt	p.S173I	RNASE11_ENST00000398008.2_Missense_Mutation_p.S173I|RNASE11_ENST00000398009.2_Missense_Mutation_p.S173I|RNASE11_ENST00000555841.1_Missense_Mutation_p.S173I|RNASE11_ENST00000553849.1_Missense_Mutation_p.S173I|RNASE11_ENST00000432835.2_Missense_Mutation_p.S173I	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	173						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													23	258					3.5997e-14	3.90403e-14	1	1	0	A	21052116	C	A	21052116	3	1	22	1	0	0	0	0	1	0	0	0	13453	565	20	2	85	2	RNASE11	14	21052116	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111488	21052116	86297424	14000	16146											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	387					0	0	1	0	0	T	21215860	C	T	21215860	3	4	22	1	0	0	0	0	1	0	0	0	4935	855	30	2	123	2	EDDM3A	14	21215860	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163744	21215860	86133680	14001	16147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	496					3.76525e-18	4.17087e-18	1	1	0	A	21502136	C	A	21502136	3	1	22	1	0	0	0	0	1	0	0	0	13455	680	24	2	162	2	RNASE13	14	21502136	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286276	21502136	85847404	14002	16148											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451119.2_Silent_p.P18P|ZNF219_ENST00000421093.2_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)	30	104					0	0	1	0	0	T	21561402	C	T	21561402	2	4	22	1	0	0	0	0	0	0	0	1	17831	639	23	1		1	ZNF219	14	21561402	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59266	21561402	85788138	14003	16149											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553753.1_Silent_p.F54F|HNRNPC_ENST00000557201.1_Silent_p.F54F|HNRNPC_ENST00000554455.1_Silent_p.F54F|HNRNPC_ENST00000556142.1_Silent_p.F54F|HNRNPC_ENST00000336053.6_Silent_p.F54F|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000556897.1_Silent_p.F54F|HNRNPC_ENST00000556513.1_Silent_p.F54F|HNRNPC_ENST00000449098.1_Silent_p.F54F|HNRNPC_ENST00000555914.1_Silent_p.F54F|HNRNPC_ENST00000553300.1_Silent_p.F54F|HNRNPC_ENST00000320084.7_Silent_p.F54F|HNRNPC_ENST00000555883.1_Silent_p.F54F|HNRNPC_ENST00000555309.1_Silent_p.F54F|HNRNPC_ENST00000420743.2_Silent_p.F54F|HNRNPC_ENST00000554969.1_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													144	547					0	0	1	0	0	A	21702191	G	A	21702191	2	1	22	1	0	0	0	0	0	0	0	1	7303	1049	37	1		1	HNRNPC	14	21702191	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140789	21702191	85647349	14004	16150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556336.1_Missense_Mutation_p.I438M|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.I107M|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.I465M|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.I438M			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													36	132					0	0	1	0	0	G	21788264	T	G	21788264	3	3	22	1	0	0	0	0	1	0	0	0	13601	1829	64	3	1437	3	RPGRIP1	14	21788264	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	86073	21788264	85561276	14005	16151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	188					0	0	1	0	0	A	21830444	G	A	21830444	4	1	22	1	0	0	0	0	0	1	0	0	15452	1095	38	1	1486	1	SUPT16H	14	21830444	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42180	21830444	85519096	14006	16152											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	110					0	0	1	0	0	T	21859667	C	T	21859667	4	4	22	1	0	0	0	0	0	1	0	0	3353	508	18	2	737	2	CHD8	14	21859667	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29223	21859667	85489873	14007	16153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	87					0	0	1	0	0	A	21861744	G	A	21861744	2	1	22	1	0	0	0	0	0	0	0	1	3353	1020	36	2		2	CHD8	14	21861744	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2077	21861744	85487796	14008	16154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557364.1_Missense_Mutation_p.A1744T|CHD8_ENST00000555962.1_5'UTR|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													13	140					0	0	1	0	0	T	21863231	C	T	21863231	3	4	22	1	0	0	0	0	1	0	0	0	3353	710	25	2	2551	2	CHD8	14	21863231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1487	21863231	85486309	14009	16155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557364.1_Silent_p.I1546I|CHD8_ENST00000555962.1_5'UTR|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													67	250					0	0	1	0	0	A	21868399	G	A	21868399	2	1	22	1	0	0	0	0	0	0	0	1	3353	1164	41	2		2	CHD8	14	21868399	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5168	21868399	85481141	14010	16156											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557364.1_Missense_Mutation_p.R1429W|CHD8_ENST00000555962.1_Intron|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													71	281					0	0	1	0	0	A	21869119	G	A	21869119	3	1	22	1	0	0	0	0	1	0	0	0	3353	1086	38	1	3528	1	CHD8	14	21869119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	720	21869119	85480421	14011	16157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557364.1_Missense_Mutation_p.P538S|CHD8_ENST00000430710.3_Missense_Mutation_p.P259S|CHD8_ENST00000555962.1_Intron	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													8	72					0	0	1	0	0	A	21894391	G	A	21894391	3	1	22	1	0	0	0	0	1	0	0	0	3353	1174	41	2	6269	2	CHD8	14	21894391	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25272	21894391	85455149	14012	16158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557364.1_Missense_Mutation_p.R212Q|CHD8_ENST00000430710.3_Intron|CHD8_ENST00000555962.1_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													21	124					0	0	1	0	0	T	21899168	C	T	21899168	3	4	22	1	0	0	0	0	1	0	0	0	3353	884	31	1	7258	1	CHD8	14	21899168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4777	21899168	85450372	14013	16159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	368					0	0	1	0	0	A	21931868	G	A	21931868	3	1	22	1	0	0	0	0	1	0	0	0	12970	1319	46	2	241	2	RAB2B	14	21931868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32700	21931868	85417672	14014	16160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													170	764					2.83946e-81	3.63311e-81	1	1	0	T	21961134	G	T	21961134	3	4	22	1	0	0	0	0	1	0	0	0	16441	962	34	2	1385	2	TOX4	14	21961134	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29266	21961134	85388406	14015	16161											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	277					0	0	1	0	0	A	21971467	G	A	21971467	3	1	22	1	0	0	0	0	1	0	0	0	9551	1203	42	2	1206	2	METTL3	14	21971467	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10333	21971467	85378073	14016	16162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Silent_p.S750S	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													67	223					0	0	1	0	0	A	21991201	G	A	21991201	2	1	22	1	0	0	0	0	0	0	0	1	13863	1078	38	1		1	SALL2	14	21991201	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19734	21991201	85358339	14017	16163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_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													32	212					3.90053e-15	4.25374e-15	1	1	0	T	21993139	G	T	21993139	2	4	22	1	0	0	0	0	0	0	0	1	13863	929	33	2		2	SALL2	14	21993139	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1938	21993139	85356401	14018	16164											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	503					0	0	1	0	0	A	22038099	G	A	22038099	2	1	22	1	0	0	0	0	0	0	0	1	10948	932	33	2		2	OR10G3	14	22038099	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44960	22038099	85311441	14019	16165											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	123					0	0	1	0	0	C	22102553	A	C	22102553	3	2	22	1	0	0	0	0	1	0	0	0	10947	72	3	3	489	3	OR10G2	14	22102553	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	64454	22102553	85246987	14020	16166											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000412791.1_Intron|OXA1L_ENST00000285848.5_Silent_p.T435T|OXA1L_ENST00000604262.1_Silent_p.T375T			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													53	182					0	0	1	0	0	A	23240499	G	A	23240499	2	1	22	1	0	0	0	0	0	0	0	1	11375	1074	38	1		1	OXA1L	14	23240499	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1137946	23240499	84109041	14021	16167											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000554517.1_Silent_p.L165L|SLC7A7_ENST00000397529.2_Silent_p.L431L|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397528.4_Silent_p.L431L|SLC7A7_ENST00000555702.1_Silent_p.L431L|SLC7A7_ENST00000285850.7_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													54	289					0	0	1	0	0	A	23243280	G	A	23243280	2	1	22	1	0	0	0	0	0	0	0	1	14758	991	35	2		2	SLC7A7	14	23243280	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2781	23243280	84106260	14022	16168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000555702.1_Silent_p.E109E|SLC7A7_ENST00000285850.7_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													138	592					0	0	1	0	0	T	23282281	C	T	23282281	2	4	22	1	0	0	0	0	0	0	0	1	14758	680	24	2		2	SLC7A7	14	23282281	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39001	23282281	84067259	14023	16169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000555702.1_De_novo_Start_OutOfFrame|SLC7A7_ENST00000285850.7_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													10	266					3.86212e-05	3.93988e-05	1	1	0	A	23282626	C	A	23282626	1	1	22	1	0	0	0	0	0	0	0	0	14758	696	24	2		2	SLC7A7	14	23282626	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	345	23282626	84066914	14024	16170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	44	144					3.54909e-21	3.99219e-21	1	1	0	A	23306057	C	A	23306057	3	1	22	1	0	0	0	0	1	0	0	0	9701	913	32	2	33	2	MMP14	14	23306057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23431	23306057	84043483	14025	16171											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	22	191					0	0	1	0	0	T	23306078	C	T	23306078	3	4	22	1	0	0	0	0	1	0	0	0	9701	797	28	2	54	2	MMP14	14	23306078	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21	23306078	84043462	14026	16172											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	133					0	0	1	0	0	T	23311685	C	T	23311685	2	4	22	1	0	0	0	0	0	0	0	1	9701	755	27	1		1	MMP14	14	23311685	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5607	23311685	84037855	14027	16173											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	669					0	0	1	0	0	A	23345402	G	A	23345402	2	1	22	1	0	0	0	0	0	0	0	1	8997	1132	40	1		1	LRP10	14	23345402	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33717	23345402	84004138	14028	16174											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	259					0	0	1	0	0	T	23353936	C	T	23353936	3	4	22	1	0	0	0	0	1	0	0	0	13275	643	23	1	163	1	REM2	14	23353936	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8534	23353936	83995604	14029	16175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	294					0	0	1	0	0	T	23354048	C	T	23354048	3	4	22	1	0	0	0	0	1	0	0	0	13275	681	24	2	275	2	REM2	14	23354048	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112	23354048	83995492	14030	16176											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	259					9.57592e-29	1.11608e-28	1	1	0	T	23354091	G	T	23354091	2	4	22	1	0	0	0	0	0	0	0	1	13275	1219	43	2		2	REM2	14	23354091	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43	23354091	83995449	14031	16177											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000216350.8_Missense_Mutation_p.G11V|PRMT5_ENST00000397440.4_Missense_Mutation_p.G11V|PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000553897.1_Intron	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													80	403					7.68447e-34	9.12355e-34	1	1	0	A	23398403	C	A	23398403	3	1	22	1	0	0	0	0	1	0	0	0	12591	739	26	2	1898	2	PRMT5	14	23398403	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44312	23398403	83951137	14032	16178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PSMB5_ENST00000460922.2_Intron|PSMB5_ENST00000425762.2_Missense_Mutation_p.A5T|PSMB5_ENST00000493471.2_Missense_Mutation_p.A108T|AL132780.1_ENST00000385031.1_RNA	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													37	282					0	0	1	0	0	T	23502760	C	T	23502760	3	4	22	1	0	0	0	0	1	0	0	0	12729	768	27	1	566	1	PSMB5	14	23502760	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104357	23502760	83846780	14033	16179											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	28					0.00829132	0.00834067	1	1	0	A	23504175	C	A	23504175	1	1	22	1	0	0	0	0	0	0	0	0	12729	696	24	2		2	PSMB5	14	23504175	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1415	23504175	83845365	14034	16180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000605057.1_Missense_Mutation_p.R1231M|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1249M|ACIN1_ENST00000357481.2_Missense_Mutation_p.R531M|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1276M|ACIN1_ENST00000397341.3_Missense_Mutation_p.R531M|ACIN1_ENST00000557515.1_Missense_Mutation_p.R530M|ACIN1_ENST00000338631.6_Missense_Mutation_p.R562M	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	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)	59	241					7.36392e-32	8.68075e-32	1	1	0	A	23528517	C	A	23528517	3	1	22	1	0	0	0	0	1	0	0	0	142	681	24	2	163	2	ACIN1	14	23528517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24342	23528517	83821023	14035	16181											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000605057.1_Missense_Mutation_p.R1213W|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1231W|ACIN1_ENST00000357481.2_Missense_Mutation_p.R513W|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1258W|ACIN1_ENST00000397341.3_Missense_Mutation_p.R513W|ACIN1_ENST00000557515.1_Missense_Mutation_p.R512W|ACIN1_ENST00000338631.6_Missense_Mutation_p.R544W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	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)	48	228					0	0	1	0	0	A	23528572	G	A	23528572	3	1	22	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	14036	16182											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	170					0	0	1	0	0	A	23587999	G	A	23587999	3	1	22	1	0	0	0	0	1	0	0	0	3224	1087	38	1	551	1	CEBPE	14	23587999	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59427	23587999	83761541	14037	16183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453702.1_Missense_Mutation_p.K17T|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000529705.2_Missense_Mutation_p.K115T|SLC7A8_ENST00000469263.1_Missense_Mutation_p.K220T|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													145	625					0	0	1	0	0	G	23609809	T	G	23609809	3	3	22	1	0	0	0	0	1	0	0	0	14759	1609	56	3	976	3	SLC7A8	14	23609809	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21810	23609809	83739731	14038	16184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556821.1_Missense_Mutation_p.A140T|PABPN1_ENST00000216727.4_Missense_Mutation_p.A268T|PABPN1_ENST00000557702.1_Missense_Mutation_p.A140T|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.A295T|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.A295T					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													25	507					0	0	1	0	0	A	23793419	G	A	23793419	3	1	22	1	0	0	0	0	1	0	0	0	11415	1087	38	1	824	1	PABPN1	14	23793419	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183610	23793419	83556121	14039	16185											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556821.1_Missense_Mutation_p.R163H|PABPN1_ENST00000216727.4_Missense_Mutation_p.R291H|PABPN1_ENST00000557702.1_Missense_Mutation_p.R163H|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.R318H|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.R318H					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													16	657					0	0	1	0	0	A	23793489	G	A	23793489	3	1	22	1	0	0	0	0	1	0	0	0	11415	1087	38	1	894	1	PABPN1	14	23793489	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70	23793489	83556051	14040	16186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000474057.1_Splice_Site|SLC22A17_ENST00000397267.1_Splice_Site|SLC22A17_ENST00000397260.3_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													30	122					0	0	1	0	0	T	23821156	C	T	23821156	5	4	22	1	0	0	0	0	0	0	1	0	14503	521	18	2	1384	2	SLC22A17	14	23821156	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27667	23821156	83528384	14041	16187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Missense_Mutation_p.T53A|SLC22A17_ENST00000397260.3_5'UTR	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													19	77					0	0	1	0	0	C	23821267	T	C	23821267	3	2	22	1	0	0	0	0	1	0	0	0	14503	1696	59	3	1495	3	SLC22A17	14	23821267	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	111	23821267	83528273	14042	16188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Missense_Mutation_p.A24T|SLC22A17_ENST00000397260.3_5'UTR	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													7	63					0	0	1	0	0	T	23821354	C	T	23821354	3	4	22	1	0	0	0	0	1	0	0	0	14503	710	25	2	1582	2	SLC22A17	14	23821354	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87	23821354	83528186	14043	16189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	447					0	0	1	0	0	A	23828965	G	A	23828965	3	1	22	1	0	0	0	0	1	0	0	0	4985	1319	46	2	975	2	EFS	14	23828965	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7611	23828965	83520575	14044	16190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	305					0.00185496	0.00187281	1	1	0	T	23855256	G	T	23855256	3	4	22	1	0	0	0	0	1	0	0	0	10086	991	35	2	799	2	MYH6	14	23855256	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26291	23855256	83494284	14045	16191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	349					0	0	1	0	0	T	23856842	C	T	23856842	3	4	22	1	0	0	0	0	1	0	0	0	10086	835	29	2	1305	2	MYH6	14	23856842	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1586	23856842	83492698	14046	16192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	438					0	0	1	0	0	A	23857491	G	A	23857491	3	1	22	1	0	0	0	0	1	0	0	0	10086	1203	42	2	1627	2	MYH6	14	23857491	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	649	23857491	83492049	14047	16193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	529					0	0	1	0	0	G	23873579	T	G	23873579	3	3	22	1	0	0	0	0	1	0	0	0	10086	1435	50	3	5286	3	MYH6	14	23873579	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16088	23873579	83475961	14048	16194											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													147	752					9.15414e-77	1.16831e-76	1	1	0	T	23886420	G	T	23886420	2	4	22	1	0	0	0	0	0	0	0	1	10087	987	35	2		2	MYH7	14	23886420	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12841	23886420	83463120	14049	16195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	323					0	0	1	0	0	A	23894565	G	A	23894565	2	1	22	1	0	0	0	0	0	0	0	1	10087	1306	46	2		2	MYH7	14	23894565	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8145	23894565	83454975	14050	16196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	280					0	0	1	0	0	A	23895007	G	A	23895007	3	1	22	1	0	0	0	0	1	0	0	0	10087	1087	38	1	3708	1	MYH7	14	23895007	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	442	23895007	83454533	14051	16197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	187					0	0	1	0	0	T	23895227	C	T	23895227	3	4	22	1	0	0	0	0	1	0	0	0	10087	768	27	1	3787	1	MYH7	14	23895227	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	220	23895227	83454313	14052	16198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	471					0.0477658	0.0478703	1	1	0	A	23900200	C	A	23900200	4	1	22	1	0	0	0	0	0	1	0	0	10087	864	30	2	5126	2	MYH7	14	23900200	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4973	23900200	83449340	14053	16199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.L367M	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													44	281					1.8453e-21	2.07902e-21	1	1	0	T	24033058	G	T	24033058	3	4	22	1	0	0	0	0	1	0	0	0	729	991	35	2	1302	2	AP1G2	14	24033058	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132858	24033058	83316482	14054	16200											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.R316H	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													46	300					0	0	1	0	0	T	24033572	C	T	24033572	3	4	22	1	0	0	0	0	1	0	0	0	729	768	27	1	1462	1	AP1G2	14	24033572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	514	24033572	83315968	14055	16201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													127	469					0	0	1	0	0	T	24040262	C	T	24040262	3	4	22	1	0	0	0	0	1	0	0	0	8007	797	28	2	216	2	JPH4	14	24040262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6690	24040262	83309278	14056	16202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	62					0	0	1	0	0	T	24044904	C	T	24044904	3	4	22	1	0	0	0	0	1	0	0	0	8007	768	27	1	761	1	JPH4	14	24044904	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4642	24044904	83304636	14057	16203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	108					0	0	1	0	0	A	24045124	G	A	24045124	2	1	22	1	0	0	0	0	0	0	0	1	8007	1074	38	1		1	JPH4	14	24045124	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	220	24045124	83304416	14058	16204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534993.1_Intron|DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.P179H|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000537912.1_Missense_Mutation_p.P106H|DHRS4L2_ENST00000545240.1_Intron|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													117	632					4.37143e-48	5.39033e-48	1	1	0	A	24470603	C	A	24470603	3	1	22	1	0	0	0	0	1	0	0	0	4522	681	24	2	564	2	DHRS4L2	14	24470603	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	425479	24470603	82878937	14059	16205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	228					0	0	1	0	0	T	24523715	C	T	24523715	2	4	22	1	0	0	0	0	0	0	0	1	9017	726	26	2		2	LRRC16B	14	24523715	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53112	24523715	82825825	14060	16206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	44	171					6.31075e-24	7.19376e-24	1	1	0	A	24527939	C	A	24527939	2	1	22	1	0	0	0	0	0	0	0	1	9017	668	24	2		2	LRRC16B	14	24527939	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4224	24527939	82821601	14061	16207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	NRL_ENST00000561028.1_Intron|PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000396973.4_Nonsense_Mutation_p.R45*|PCK2_ENST00000560657.1_3'UTR|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000558096.1_5'UTR|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													88	371					0	0	1	0	0	T	24566204	C	T	24566204	4	4	22	1	0	0	0	0	0	1	0	0	11629	876	31	1	139	1	PCK2	14	24566204	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38265	24566204	82783336	14062	16208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	NRL_ENST00000561028.1_Intron|PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000396973.4_Nonsense_Mutation_p.Q121*|PCK2_ENST00000561286.1_5'UTR|PCK2_ENST00000558096.1_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													36	168					0	0	1	0	0	T	24567497	C	T	24567497	4	4	22	1	0	0	0	0	0	1	0	0	11629	479	17	2	371	2	PCK2	14	24567497	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1293	24567497	82782043	14063	16209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000216780.4_Missense_Mutation_p.A269T|PCK2_ENST00000396973.4_Missense_Mutation_p.A269T|PCK2_ENST00000561286.1_Missense_Mutation_p.A135T|PCK2_ENST00000558096.1_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													27	269					0	0	1	0	0	A	24568398	G	A	24568398	3	1	22	1	0	0	0	0	1	0	0	0	11629	1087	38	1	823	1	PCK2	14	24568398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	901	24568398	82781142	14064	16210											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396941.4_Nonsense_Mutation_p.R176*|DCAF11_ENST00000396936.1_Nonsense_Mutation_p.R102*|DCAF11_ENST00000559115.1_Nonsense_Mutation_p.R202*|DCAF11_ENST00000560171.1_3'UTR	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													122	547					0	0	1	0	0	T	24587623	C	T	24587623	4	4	22	1	0	0	0	0	0	1	0	0	4286	644	23	1	626	1	DCAF11	14	24587623	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19225	24587623	82761917	14065	16211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	684					0	0	1	0	0	A	24607694	G	A	24607694	2	1	22	1	0	0	0	0	0	0	0	1	12755	1190	42	2		2	PSME1	14	24607694	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20071	24607694	82741846	14066	16212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557878.1_3'UTR|RNF31_ENST00000559275.1_5'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													32	130					0	0	1	0	0	A	24617572	G	A	24617572	3	1	22	1	0	0	0	0	1	0	0	0	13539	1029	36	2	455	2	RNF31	14	24617572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9878	24617572	82731968	14067	16213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382687.3_Missense_Mutation_p.S272L|RNF31_ENST00000559275.1_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													88	825					0	0	1	0	0	T	24619877	C	T	24619877	3	4	22	1	0	0	0	0	1	0	0	0	13539	893	31	1	1298	1	RNF31	14	24619877	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2305	24619877	82729663	14068	16214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382687.3_Missense_Mutation_p.S299I|RNF31_ENST00000559275.1_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													57	608					6.60958e-23	7.49606e-23	1	1	0	T	24619958	G	T	24619958	3	4	22	1	0	0	0	0	1	0	0	0	13539	971	34	2	1379	2	RNF31	14	24619958	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81	24619958	82729582	14069	16215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	110					0	0	1	0	0	A	24635385	G	A	24635385	3	1	22	1	0	0	0	0	1	0	0	0	7881	971	34	2	1192	2	IRF9	14	24635385	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15427	24635385	82714155	14070	16216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	337					0	0	1	0	0	A	24642111	G	A	24642111	2	1	22	1	0	0	0	0	0	0	0	1	13251	991	35	2		2	REC8	14	24642111	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6726	24642111	82707429	14071	16217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	315					0	0	1	0	0	A	24646361	G	A	24646361	2	1	22	1	0	0	0	0	0	0	0	1	13251	962	34	2		2	REC8	14	24646361	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4250	24646361	82703179	14072	16218											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	204					0	0	1	0	0	A	24646947	G	A	24646947	3	1	22	1	0	0	0	0	1	0	0	0	13251	971	34	2	886	2	REC8	14	24646947	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	586	24646947	82702593	14073	16219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	242					0	0	1	0	0	A	24651000	G	A	24651000	4	1	22	1	0	0	0	0	0	1	0	0	7839	1095	38	1	404	1	IPO4	14	24651000	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4053	24651000	82698540	14074	16220											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	366					0	0	1	0	0	T	24652349	C	T	24652349	3	4	22	1	0	0	0	0	1	0	0	0	7839	536	19	1	1023	1	IPO4	14	24652349	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1349	24652349	82697191	14075	16221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24658926C>T	ENST00000530611.1	-	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_ENST00000528669.1_Missense_Mutation_p.A489T|TM9SF1_ENST00000556387.1_Missense_Mutation_p.A715T			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													71	371					0	0	1	0	0	T	24658926	C	T	24658926	3	4	22	1	0	0	0	0	1	0	0	0	16037	768	27	1	308	1	TM9SF1	14	24658926	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6577	24658926	82690614	14076	16222											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24679567C>T	ENST00000530611.1	-	5	630	c.597G>A	c.(595-597)ctG>ctA	p.L199L	AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000542700.2_5'UTR|TM9SF1_ENST00000556387.1_Silent_p.L199L|CHMP4A_ENST00000347519.6_Silent_p.L242L			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													12	735					0	0	1	0	0	T	24679567	C	T	24679567	2	4	22	1	0	0	0	0	0	0	0	1	16037	697	25	2		2	TM9SF1	14	24679567	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20641	24679567	82669973	14077	16223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24679614C>A	ENST00000530611.1	-	5	583	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000542700.2_5'UTR|TM9SF1_ENST00000556387.1_Nonsense_Mutation_p.E184*|CHMP4A_ENST00000347519.6_Nonsense_Mutation_p.E227*			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													30	932					1.17739e-12	1.26592e-12	1	1	0	A	24679614	C	A	24679614	4	1	22	1	0	0	0	0	0	1	0	0	16037	864	30	2		2	TM9SF1	14	24679614	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47	24679614	82669926	14078	16224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_3'UTR|MDP1_ENST00000532557.1_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						AGGCCTCAAATGGGCTCTCCT	0.423													13	332					0	0	1	0	0	C	24683242	T	C	24683242	2	2	22	1	0	0	0	0	0	0	0	1	9466	1451	51	3		3	MDP1	14	24683242	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3628	24683242	82666298	14079	16225											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_Intron|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.R143W|MDP1_ENST00000532557.1_Intron	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													117	545					0	0	1	0	0	A	24683543	G	A	24683543	3	1	22	1	0	0	0	0	1	0	0	0	9466	1086	38	1	162	1	MDP1	14	24683543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	301	24683543	82665997	14080	16226											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	NEDD8-MDP1_ENST00000604306.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_Missense_Mutation_p.S32N|NEDD8-MDP1_ENST00000534348.1_Intron|MDP1_ENST00000532557.1_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)	152	841					0	0	1	0	0	T	24684946	C	T	24684946	3	4	22	1	0	0	0	0	1	0	0	0	9466	797	28	2	455	2	MDP1	14	24684946	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1403	24684946	82664594	14081	16227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000558566.1_Missense_Mutation_p.K106N|TINF2_ENST00000559019.1_Intron|TINF2_ENST00000540705.1_Missense_Mutation_p.K71N|TINF2_ENST00000267415.7_Missense_Mutation_p.K106N|TINF2_ENST00000538777.1_5'UTR	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				23	96					1.28384e-07	1.33406e-07	1	1	0	A	24710962	C	A	24710962	3	1	22	1	0	0	0	0	1	0	0	0	15983	912	32	2	1069	2	TINF2	14	24710962	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26016	24710962	82638578	14082	16228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	279					0	0	1	0	0	T	24724683	C	T	24724683	3	4	22	1	0	0	0	0	1	0	0	0	15889	739	26	2	941	2	TGM1	14	24724683	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13721	24724683	82624857	14083	16229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	153					0	0	1	0	0	T	24729006	C	T	24729006	2	4	22	1	0	0	0	0	0	0	0	1	15889	610	22	2		2	TGM1	14	24729006	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4323	24729006	82620534	14084	16230											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	347					0	0	1	0	0	T	24729184	C	T	24729184	3	4	22	1	0	0	0	0	1	0	0	0	15889	893	31	1	1659	1	TGM1	14	24729184	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178	24729184	82620356	14085	16231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	421					0	0	1	0	0	C	24731070	G	C	24731070	3	2	22	1	0	0	0	0	1	0	0	0	15889	1136	40	5	2166	5	TGM1	14	24731070	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1886	24731070	82618470	14086	16232											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	262					0	0	1	0	0	A	24768170	G	A	24768170	3	1	22	1	0	0	0	0	1	0	0	0	4514	971	34	2	830	2	DHRS1	14	24768170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37100	24768170	82581370	14087	16233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													129	390					0	0	1	0	0	A	24780826	G	A	24780826	3	1	22	1	0	0	0	0	1	0	0	0	9117	1087	38	1	958	1	LTB4R2	14	24780826	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12656	24780826	82568714	14088	16234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	392					3.39216e-54	4.23318e-54	1	1	0	A	24806143	C	A	24806143	3	1	22	1	0	0	0	0	1	0	0	0	13434	912	32	2	280	2	RIPK3	14	24806143	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25317	24806143	82543397	14089	16235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	439					5.50663e-37	6.60513e-37	1	1	0	T	24808519	G	T	24808519	3	4	22	1	0	0	0	0	1	0	0	0	13434	1174	41	2	1415	2	RIPK3	14	24808519	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2376	24808519	82541021	14090	16236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553469.1_Missense_Mutation_p.P146S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P102S|NFATC4_ENST00000556169.1_Missense_Mutation_p.P102S|NFATC4_ENST00000557451.1_Missense_Mutation_p.P44S|NFATC4_ENST00000424781.2_Missense_Mutation_p.P127S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P146S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P102S|NFATC4_ENST00000539237.2_Missense_Mutation_p.P146S|NFATC4_ENST00000554966.1_Missense_Mutation_p.P127S|NFATC4_ENST00000554661.1_Missense_Mutation_p.P44S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P127S|NFATC4_ENST00000250373.4_Missense_Mutation_p.P114S|NFATC4_ENST00000554344.1_Missense_Mutation_p.P44S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P44S|NFATC4_ENST00000554591.1_Missense_Mutation_p.P177S|NFATC4_ENST00000553708.1_Missense_Mutation_p.P114S|NFATC4_ENST00000554050.1_Missense_Mutation_p.P114S|NFATC4_ENST00000440487.2_3'UTR	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													28	121					0	0	1	0	0	T	24838944	C	T	24838944	3	4	22	1	0	0	0	0	1	0	0	0	10412	855	30	2	539	2	NFATC4	14	24838944	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30425	24838944	82510596	14091	16237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553469.1_Missense_Mutation_p.A190T|NFATC4_ENST00000422617.3_Missense_Mutation_p.A146T|NFATC4_ENST00000556169.1_Missense_Mutation_p.A146T|NFATC4_ENST00000557451.1_Missense_Mutation_p.A88T|NFATC4_ENST00000424781.2_Missense_Mutation_p.A171T|NFATC4_ENST00000556279.1_Missense_Mutation_p.A190T|NFATC4_ENST00000555453.1_Missense_Mutation_p.A146T|NFATC4_ENST00000539237.2_Missense_Mutation_p.A190T|NFATC4_ENST00000554966.1_Missense_Mutation_p.A171T|NFATC4_ENST00000554661.1_Missense_Mutation_p.A88T|NFATC4_ENST00000555590.1_Missense_Mutation_p.A171T|NFATC4_ENST00000250373.4_Missense_Mutation_p.A158T|NFATC4_ENST00000554344.1_Missense_Mutation_p.A88T|NFATC4_ENST00000553879.1_Missense_Mutation_p.A88T|NFATC4_ENST00000554591.1_Missense_Mutation_p.A221T|NFATC4_ENST00000553708.1_Missense_Mutation_p.A158T|NFATC4_ENST00000554050.1_Missense_Mutation_p.A158T|NFATC4_ENST00000440487.2_3'UTR	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													16	84					0	0	1	0	0	A	24839076	G	A	24839076	3	1	22	1	0	0	0	0	1	0	0	0	10412	971	34	2	671	2	NFATC4	14	24839076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132	24839076	82510464	14092	16238											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553469.1_Missense_Mutation_p.V590M|NFATC4_ENST00000422617.3_Missense_Mutation_p.V546M|NFATC4_ENST00000556169.1_Missense_Mutation_p.V546M|NFATC4_ENST00000557451.1_Missense_Mutation_p.V488M|NFATC4_ENST00000424781.2_Missense_Mutation_p.V571M|NFATC4_ENST00000556279.1_Missense_Mutation_p.V590M|NFATC4_ENST00000555453.1_Missense_Mutation_p.V546M|NFATC4_ENST00000539237.2_Missense_Mutation_p.V590M|NFATC4_ENST00000554966.1_Missense_Mutation_p.V571M|NFATC4_ENST00000554661.1_Missense_Mutation_p.V488M|NFATC4_ENST00000554473.1_Missense_Mutation_p.V93M|NFATC4_ENST00000555590.1_Missense_Mutation_p.V571M|NFATC4_ENST00000250373.4_Missense_Mutation_p.V558M|NFATC4_ENST00000555167.1_Missense_Mutation_p.V93M|NFATC4_ENST00000556759.1_Missense_Mutation_p.V93M|NFATC4_ENST00000554344.1_Missense_Mutation_p.V488M|NFATC4_ENST00000553879.1_Missense_Mutation_p.V488M|NFATC4_ENST00000554591.1_Missense_Mutation_p.V621M|NFATC4_ENST00000553708.1_Missense_Mutation_p.V558M|NFATC4_ENST00000554050.1_Missense_Mutation_p.V558M	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													100	350					0	0	1	0	0	A	24843013	G	A	24843013	3	1	22	1	0	0	0	0	1	0	0	0	10412	1145	40	1	1883	1	NFATC4	14	24843013	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3937	24843013	82506527	14093	16239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553469.1_Missense_Mutation_p.Q611H|NFATC4_ENST00000422617.3_Missense_Mutation_p.Q567H|NFATC4_ENST00000556169.1_Missense_Mutation_p.Q567H|NFATC4_ENST00000555393.1_5'UTR|NFATC4_ENST00000557451.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000424781.2_Missense_Mutation_p.Q592H|NFATC4_ENST00000556279.1_Missense_Mutation_p.Q611H|NFATC4_ENST00000555453.1_Missense_Mutation_p.Q567H|NFATC4_ENST00000539237.2_Missense_Mutation_p.Q611H|NFATC4_ENST00000554966.1_Missense_Mutation_p.Q592H|NFATC4_ENST00000554661.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000554473.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000555590.1_Missense_Mutation_p.Q592H|NFATC4_ENST00000250373.4_Missense_Mutation_p.Q579H|NFATC4_ENST00000555167.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000556759.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000554344.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000553879.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000554591.1_Missense_Mutation_p.Q642H|NFATC4_ENST00000557767.1_5'UTR|NFATC4_ENST00000553708.1_Missense_Mutation_p.Q579H|NFATC4_ENST00000554050.1_Missense_Mutation_p.Q579H|NFATC4_ENST00000555802.1_5'UTR	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													32	135					8.4185e-14	9.11178e-14	1	1	0	T	24843536	G	T	24843536	3	4	22	1	0	0	0	0	1	0	0	0	10412	962	34	2	1952	2	NFATC4	14	24843536	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	523	24843536	82506004	14094	16240											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	384					2.13719e-29	2.49704e-29	1	1	0	A	24877090	C	A	24877090	3	1	22	1	0	0	0	0	1	0	0	0	10844	680	24	2	220	2	NYNRIN	14	24877090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33554	24877090	82472450	14095	16241											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	137					2.17888e-05	2.22852e-05	1	1	0	T	24877717	G	T	24877717	3	4	22	1	0	0	0	0	1	0	0	0	10844	971	34	2	847	2	NYNRIN	14	24877717	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	627	24877717	82471823	14096	16242											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	156					4.59853e-10	4.86106e-10	1	1	0	A	24877997	C	A	24877997	3	1	22	1	0	0	0	0	1	0	0	0	10844	681	24	2	1007	2	NYNRIN	14	24877997	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	280	24877997	82471543	14097	16243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	147					0	0	1	0	0	A	24878150	T	A	24878150	3	1	22	1	0	0	0	0	1	0	0	0	10844	1667	58	5	1160	5	NYNRIN	14	24878150	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	153	24878150	82471390	14098	16244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	213	882					0	0	1	0	0	C	24880593	A	C	24880593	3	2	22	1	0	0	0	0	1	0	0	0	10844	72	3	3	2597	3	NYNRIN	14	24880593	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2443	24880593	82468947	14099	16245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	375					0	0	1	0	0	T	24884117	C	T	24884117	2	4	22	1	0	0	0	0	0	0	0	1	10844	874	31	1		1	NYNRIN	14	24884117	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3524	24884117	82465423	14100	16246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	474					0	0	1	0	0	T	24884802	C	T	24884802	3	4	22	1	0	0	0	0	1	0	0	0	10844	652	23	1	3877	1	NYNRIN	14	24884802	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	685	24884802	82464738	14101	16247											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	136					0	0	1	0	0	T	24885464	C	T	24885464	2	4	22	1	0	0	0	0	0	0	0	1	10844	784	28	2		2	NYNRIN	14	24885464	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	662	24885464	82464076	14102	16248											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	331					0	0	1	0	0	A	24886379	G	A	24886379	2	1	22	1	0	0	0	0	0	0	0	1	10844	1045	37	1		1	NYNRIN	14	24886379	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	915	24886379	82463161	14103	16249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	44	168					5.34276e-22	6.03513e-22	1	1	0	T	24900668	G	T	24900668	5	4	22	1	0	0	0	0	0	0	1	0	8192	1014	35	2	207	2	KHNYN	14	24900668	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14289	24900668	82448872	14104	16250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	46	176					0	0	1	0	0	A	24901383	G	A	24901383	3	1	22	1	0	0	0	0	1	0	0	0	8192	1203	42	2	922	2	KHNYN	14	24901383	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	715	24901383	82448157	14105	16251											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													161	634					1.556e-84	1.99354e-84	1	1	0	T	24976656	G	T	24976656	3	4	22	1	0	0	0	0	1	0	0	0	3597	991	35	2	644	2	CMA1	14	24976656	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75273	24976656	82372884	14106	16252											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	322					0	0	1	0	0	G	25044478	A	G	25044478	3	3	22	1	0	0	0	0	1	0	0	0	4059	188	7	3	587	3	CTSG	14	25044478	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67822	25044478	82305062	14107	16253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358326.2_Nonsense_Mutation_p.R179*|STXBP6_ENST00000548369.1_Nonsense_Mutation_p.R77*|STXBP6_ENST00000548724.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000550887.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000546511.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000419632.2_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													164	674					0	0	1	0	0	A	25288317	G	A	25288317	4	1	22	1	0	0	0	0	0	1	0	0	15414	1095	38	1	105	1	STXBP6	14	25288317	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	243839	25288317	82061223	14108	16254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000465357.2_Missense_Mutation_p.G442D|NOVA1_ENST00000267422.7_Missense_Mutation_p.G344D	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													14	177					0	0	1	0	0	T	26917292	C	T	26917292	3	4	22	1	0	0	0	0	1	0	0	0	10601	739	26	2	130	2	NOVA1	14	26917292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1628975	26917292	80432248	14109	16255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539517.2_Splice_Site|NOVA1_ENST00000465357.2_Intron|NOVA1_ENST00000267422.7_Splice_Site|NOVA1_ENST00000344429.5_Splice_Site			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													22	107					0	0	1	0	0	C	26941524	A	C	26941524	3	2	22	1	0	0	0	0	1	0	0	0	10601	405	14	3	1041	3	NOVA1	14	26941524	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24232	26941524	80408016	14110	16256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:27064755G>A	ENST00000267422.7	-	0	140				NOVA1_ENST00000574031.1_Silent_p.D47D|NOVA1_ENST00000539517.2_Silent_p.D47D|NOVA1_ENST00000465357.2_Silent_p.D47D|NOVA1_ENST00000547619.1_Silent_p.D47D|NOVA1_ENST00000344429.5_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													7	260					0	0	1	0	0	A	27064755	G	A	27064755	1	1	22	1	0	0	0	0	0	0	0	0	10601	1136	40	1		1	NOVA1	14	27064755	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123231	27064755	80284785	14111	16257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	51					0	0	1	0	0	A	29236501	G	A	29236501	3	1	22	1	0	0	0	0	1	0	0	0	6041	942	33	2	18	2	FOXG1	14	29236501	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2171746	29236501	78113039	14112	16258											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	48					0	0	1	0	0	T	29236593	C	T	29236593	2	4	22	1	0	0	0	0	0	0	0	1	6041	738	26	2		2	FOXG1	14	29236593	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92	29236593	78112947	14113	16259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	263					0	0	1	0	0	A	29237629	G	A	29237629	3	1	22	1	0	0	0	0	1	0	0	0	6041	1087	38	1	1146	1	FOXG1	14	29237629	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1036	29237629	78111911	14114	16260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	151					0	0	1	0	0	A	30107904	G	A	30107904	2	1	22	1	0	0	0	0	0	0	0	1	12570	1311	46	2		2	PRKD1	14	30107904	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	870275	30107904	77241636	14115	16261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	193					0	0	1	0	0	T	30107919	C	T	30107919	2	4	22	1	0	0	0	0	0	0	0	1	12570	738	26	2		2	PRKD1	14	30107919	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	30107919	77241621	14116	16262											
G2E3	55632	broad.mit.edu	37	chr14	31074771	31074772	+	Frame_Shift_Ins	INS	-	-	A													tagagttaggattccaaattINSaaaaaaaaaactaaaagatt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31074771_31074772insA	ENST00000206595.6	+	11	1225_1226	c.1071_1072insA	c.(1069-1074)ataaaafs	p.IK357fs	G2E3_ENST00000553504.1_Frame_Shift_Ins_p.IK387fs|G2E3_ENST00000544007.1_Intron|G2E3_ENST00000438909.2_Frame_Shift_Ins_p.IK311fs	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	357					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						GATTCCAAATTAAAAAAAAAAC	0.272													7	111	---	---	---	---						A	31074772	-	A	31074771	7	5	22	1	0	1	1	0	0	0	0	0	6175	1742	61	0	1109	0	G2E3	14	31074771	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	966852	31074771	76274769	14117	16263											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438909.2_Silent_p.C428C|G2E3_ENST00000553504.1_Silent_p.C504C	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													80	411					0	0	1	0	0	T	31077197	C	T	31077197	2	4	22	1	0	0	0	0	0	0	0	1	6175	747	26	2		2	G2E3	14	31077197	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2426	31077197	76272343	14118	16264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438909.2_Missense_Mutation_p.T631I|G2E3_ENST00000553504.1_Missense_Mutation_p.T707I	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													29	158					0	0	1	0	0	T	31085649	C	T	31085649	3	4	22	1	0	0	0	0	1	0	0	0	6175	478	17	2	2084	2	G2E3	14	31085649	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8452	31085649	76263891	14119	16265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396629.2_Missense_Mutation_p.D134G|SCFD1_ENST00000544052.2_Missense_Mutation_p.D159G|SCFD1_ENST00000541123.1_Missense_Mutation_p.D41G|SCFD1_ENST00000421551.3_Missense_Mutation_p.D167G	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													35	153					0	0	1	0	0	G	31119778	A	G	31119778	3	3	22	1	0	0	0	0	1	0	0	0	13942	275	10	3	711	3	SCFD1	14	31119778	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34129	31119778	76229762	14120	16266											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396629.2_Silent_p.L309L|SCFD1_ENST00000544052.2_Silent_p.L334L|SCFD1_ENST00000541123.1_Silent_p.L216L|SCFD1_ENST00000421551.3_Silent_p.L342L	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													49	264					0	0	1	0	0	T	31144232	C	T	31144232	2	4	22	1	0	0	0	0	0	0	0	1	13942	842	30	2		2	SCFD1	14	31144232	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24454	31144232	76205308	14121	16267											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Silent_p.N85N|COCH_ENST00000460581.2_5'UTR|COCH_ENST00000475087.1_Silent_p.N85N	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													45	266					0	0	1	0	0	T	31348032	C	T	31348032	2	4	22	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	14122	16268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.G374V|COCH_ENST00000396618.3_Missense_Mutation_p.G374V|COCH_ENST00000382493.4_Missense_Mutation_p.G225V|COCH_ENST00000475087.1_Missense_Mutation_p.G374V			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													55	295					2.01807e-28	2.34828e-28	1	1	0	T	31355162	G	T	31355162	3	4	22	1	0	0	0	0	1	0	0	0	3679	1203	42	2	1159	2	COCH	14	31355162	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7130	31355162	75994378	14123	16269											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Silent_p.I437I|COCH_ENST00000396618.3_Silent_p.I437I|COCH_ENST00000382493.4_Silent_p.I288I|COCH_ENST00000475087.1_Silent_p.I437I			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													15	431					6.72482e-11	7.15107e-11	1	1	0	A	31355352	C	A	31355352	2	1	22	1	0	0	0	0	0	0	0	1	3679	845	30	2		2	COCH	14	31355352	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	190	31355352	75994188	14124	16270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	222					1.08141e-31	1.27425e-31	1	1	0	T	31374730	G	T	31374730	2	4	22	1	0	0	0	0	0	0	0	1	15386	958	34	2		2	STRN3	14	31374730	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19378	31374730	75974810	14125	16271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	441					4.9621e-21	5.57887e-21	1	1	0	A	31416418	C	A	31416418	3	1	22	1	0	0	0	0	1	0	0	0	15386	796	28	2	1855	2	STRN3	14	31416418	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41688	31416418	75933122	14126	16272											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	236					0	0	1	0	0	A	31576881	G	A	31576881	2	1	22	1	0	0	0	0	0	0	0	1	7080	958	34	2		2	HECTD1	14	31576881	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	160463	31576881	75772659	14127	16273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	323					0	0	1	0	0	A	31597095	G	A	31597095	3	1	22	1	0	0	0	0	1	0	0	0	7080	1377	48	2	3027	2	HECTD1	14	31597095	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20214	31597095	75752445	14128	16274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	143					1.7489e-18	1.94175e-18	1	1	0	T	31597990	G	T	31597990	3	4	22	1	0	0	0	0	1	0	0	0	7080	962	34	2	3321	2	HECTD1	14	31597990	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	895	31597990	75751550	14129	16275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	173					0	0	1	0	0	G	31618318	A	G	31618318	3	3	22	1	0	0	0	0	1	0	0	0	7080	391	14	3	5748	3	HECTD1	14	31618318	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20328	31618318	75731222	14130	16276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	178					0	0	1	0	0	G	31641142	A	G	31641142	2	3	22	1	0	0	0	0	0	0	0	1	7080	146	6	3		3	HECTD1	14	31641142	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22824	31641142	75708398	14131	16277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	254					0	0	1	0	0	C	31647447	T	C	31647447	3	2	22	1	0	0	0	0	1	0	0	0	7080	1696	59	3	7842	3	HECTD1	14	31647447	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6305	31647447	75702093	14132	16278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439727.1_Silent_p.I1467I|HEATR5A_ENST00000439348.1_Intron|HEATR5A_ENST00000389961.3_Silent_p.I1754I	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													9	45					0	0	1	0	0	A	31771685	G	A	31771685	2	1	22	1	0	0	0	0	0	0	0	1	7072	1048	37	1		1	HEATR5A	14	31771685	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124238	31771685	75577855	14133	16279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000439727.1_Missense_Mutation_p.G570E|HEATR5A_ENST00000404677.3_Missense_Mutation_p.G863E|HEATR5A_ENST00000439348.1_Missense_Mutation_p.G857E|HEATR5A_ENST00000389961.3_Missense_Mutation_p.G857E	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													19	70					0	0	1	0	0	T	31819115	C	T	31819115	3	4	22	1	0	0	0	0	1	0	0	0	7072	855	30	2	3628	2	HEATR5A	14	31819115	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47430	31819115	75530425	14134	16280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000439727.1_Missense_Mutation_p.H284Y|HEATR5A_ENST00000404677.3_Missense_Mutation_p.H577Y|HEATR5A_ENST00000439348.1_Missense_Mutation_p.H571Y|HEATR5A_ENST00000389961.3_Missense_Mutation_p.H571Y	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													23	60					0	0	1	0	0	A	31844154	G	A	31844154	3	1	22	1	0	0	0	0	1	0	0	0	7072	1290	45	2	4511	2	HEATR5A	14	31844154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25039	31844154	75505386	14135	16281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.G64*|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_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													87	521					7.69131e-47	9.45669e-47	1	1	0	T	32560065	G	T	32560065	4	4	22	1	0	0	0	0	0	1	0	0	883	1001	35	2	192	2	ARHGAP5	14	32560065	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	715911	32560065	74789475	14136	16282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V185A|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_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													106	364					0	0	1	0	0	C	32560429	T	C	32560429	3	2	22	1	0	0	0	0	1	0	0	0	883	1667	58	3	556	3	ARHGAP5	14	32560429	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	364	32560429	74789111	14137	16283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Silent_p.S641S|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_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													153	658					0	0	1	0	0	A	32561798	G	A	32561798	2	1	22	1	0	0	0	0	0	0	0	1	883	1074	38	1		1	ARHGAP5	14	32561798	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1369	32561798	74787742	14138	16284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.K740T|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_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													113	423					0	0	1	0	0	C	32562094	A	C	32562094	3	2	22	1	0	0	0	0	1	0	0	0	883	14	1	3	2221	3	ARHGAP5	14	32562094	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	296	32562094	74787446	14139	16285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000554449.1_3'UTR|AKAP6_ENST00000557272.1_Silent_p.S5S	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													36	203					0	0	1	0	0	T	32902714	C	T	32902714	2	4	22	1	0	0	0	0	0	0	0	1	452	767	27	1		1	AKAP6	14	32902714	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	340620	32902714	74446826	14140	16286											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	519					0.000157383	0.000159814	1	1	0	A	33004822	C	A	33004822	3	1	22	1	0	0	0	0	1	0	0	0	452	912	32	2	393	2	AKAP6	14	33004822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102108	33004822	74344718	14141	16287											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	321					0	0	1	0	0	A	33016050	G	A	33016050	3	1	22	1	0	0	0	0	1	0	0	0	452	1087	38	1	2201	1	AKAP6	14	33016050	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11228	33016050	74333490	14142	16288											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356141.4_Silent_p.G160G|NPAS3_ENST00000341321.4_Silent_p.G160G|NPAS3_ENST00000548645.1_Silent_p.G130G|NPAS3_ENST00000547068.1_Silent_p.G56G|NPAS3_ENST00000357798.5_Silent_p.G147G|NPAS3_ENST00000551492.1_Silent_p.G165G	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													70	279					0	0	1	0	0	T	34029338	C	T	34029338	2	4	22	1	0	0	0	0	0	0	0	1	10611	784	28	2		2	NPAS3	14	34029338	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1013288	34029338	73320202	14143	16289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356141.4_Missense_Mutation_p.A542V|NPAS3_ENST00000548645.1_Missense_Mutation_p.A512V|NPAS3_ENST00000357798.5_Missense_Mutation_p.A529V|NPAS3_ENST00000551492.1_Missense_Mutation_p.A547V	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													53	229					0	0	1	0	0	T	34269138	C	T	34269138	3	4	22	1	0	0	0	0	1	0	0	0	10611	768	27	1	1726	1	NPAS3	14	34269138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239800	34269138	73080402	14144	16290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356141.4_Silent_p.G702G|NPAS3_ENST00000548645.1_Silent_p.G672G|NPAS3_ENST00000357798.5_Silent_p.G689G|NPAS3_ENST00000551492.1_Silent_p.G707G	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													49	153					0	0	1	0	0	T	34269619	C	T	34269619	2	4	22	1	0	0	0	0	0	0	0	1	10611	755	27	1		1	NPAS3	14	34269619	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	481	34269619	73079921	14145	16291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	790					0	0	1	0	0	G	34985588	A	G	34985588	2	3	22	1	0	0	0	0	0	0	0	1	4903	41	2	3		3	EAPP	14	34985588	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	715969	34985588	72363952	14146	16292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000362031.4_Missense_Mutation_p.A400V|SNX6_ENST00000396534.3_Missense_Mutation_p.A272V|SNX6_ENST00000355110.5_Missense_Mutation_p.A276V			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													40	181					0	0	1	0	0	A	35036896	G	A	35036896	3	1	22	1	0	0	0	0	1	0	0	0	14960	1319	46	2	65	2	SNX6	14	35036896	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51308	35036896	72312644	14147	16293											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396534.3_5'UTR|SNX6_ENST00000396526.3_5'UTR|SNX6_ENST00000355110.5_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													8	313					1.06961e-07	1.11297e-07	1	1	0	A	35078930	C	A	35078930	3	1	22	1	0	0	0	0	1	0	0	0	14960	913	32	2	1195	2	SNX6	14	35078930	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42034	35078930	72270610	14148	16294											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382422.2_Silent_p.R807R|BAZ1A_ENST00000358716.4_Silent_p.R775R	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													101	480					0	0	1	0	0	A	35245537	G	A	35245537	2	1	22	1	0	0	0	0	0	0	0	1	1327	1074	38	1		1	BAZ1A	14	35245537	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166607	35245537	72104003	14149	16295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000216774.6_Missense_Mutation_p.G298D|SRP54_ENST00000546080.1_Missense_Mutation_p.G249D|SRP54_ENST00000555557.1_Missense_Mutation_p.G234D			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													72	378					0	0	1	0	0	A	35483956	G	A	35483956	3	1	22	1	0	0	0	0	1	0	0	0	15211	1203	42	2	931	2	SRP54	14	35483956	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	238419	35483956	71865584	14150	16296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534898.4_Silent_p.L308L|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000321130.10_Silent_p.L308L|KIAA0391_ENST00000604948.1_Silent_p.L213L|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000603544.1_Silent_p.L308L			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													46	184					0	0	1	0	0	T	35593373	C	T	35593373	2	4	22	1	0	0	0	0	0	0	0	1	8214	912	32	2		2	KIAA0391	14	35593373	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109417	35593373	71756167	14151	16297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534898.4_Missense_Mutation_p.R445W|KIAA0391_ENST00000321130.10_Missense_Mutation_p.R429W|KIAA0391_ENST00000604948.1_Missense_Mutation_p.R350W|KIAA0391_ENST00000605870.1_Missense_Mutation_p.R73W|KIAA0391_ENST00000603544.1_Missense_Mutation_p.R429W			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													136	538					0	0	1	0	0	T	35735990	C	T	35735990	3	4	22	1	0	0	0	0	1	0	0	0	8214	643	23	1	1351	1	KIAA0391	14	35735990	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142617	35735990	71613550	14152	16298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553809.1_Silent_p.G20G|PSMA6_ENST00000556506.1_Silent_p.G20G|PSMA6_ENST00000540871.1_Intron|KIAA0391_ENST00000557565.1_Intron	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													19	482					0	0	1	0	0	C	35761742	T	C	35761742	2	2	22	1	0	0	0	0	0	0	0	1	12720	1654	58	3		3	PSMA6	14	35761742	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25752	35761742	71587798	14153	16299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553809.1_Silent_p.C207C|PSMA6_ENST00000556506.1_Intron|PSMA6_ENST00000540871.1_Silent_p.C182C|KIAA0391_ENST00000557565.1_3'UTR	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													23	147					0	0	1	0	0	T	35783581	C	T	35783581	2	4	22	1	0	0	0	0	0	0	0	1	12720	747	26	2		2	PSMA6	14	35783581	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21839	35783581	71565959	14154	16300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	114					0	0	1	0	0	A	35872963	G	A	35872963	3	1	22	1	0	0	0	0	1	0	0	0	10424	1261	44	2	704	2	NFKBIA	14	35872963	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89382	35872963	71476577	14155	16301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	291					0	0	1	0	0	A	36004387	G	A	36004387	3	1	22	1	0	0	0	0	1	0	0	0	7816	1087	38	1	931	1	INSM2	14	36004387	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131424	36004387	71345153	14156	16302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	270					0	0	1	0	0	A	36004916	G	A	36004916	2	1	22	1	0	0	0	0	0	0	0	1	7816	933	33	2		2	INSM2	14	36004916	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	529	36004916	71344624	14157	16303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389698.3_Missense_Mutation_p.G1927D|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.G1940D|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.G1927D			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													71	304					0	0	1	0	0	T	36041836	C	T	36041836	3	4	22	1	0	0	0	0	1	0	0	0	13065	507	18	2	499	2	RALGAPA1	14	36041836	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36920	36041836	71307704	14158	16304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000307138.6_Missense_Mutation_p.T1052N|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.T1065N			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													39	141					1.23103e-26	1.41986e-26	1	1	0	T	36143867	G	T	36143867	3	4	22	1	0	0	0	0	1	0	0	0	13065	1029	36	2	3184	2	RALGAPA1	14	36143867	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102031	36143867	71205673	14159	16305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000307138.6_Missense_Mutation_p.S913Y|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S926Y			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													21	98					1.66031e-10	1.76115e-10	1	1	0	T	36154173	G	T	36154173	3	4	22	1	0	0	0	0	1	0	0	0	13065	942	33	2	3613	2	RALGAPA1	14	36154173	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10306	36154173	71195367	14160	16306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	77					0	0	1	0	0	T	36295809	C	T	36295809	2	4	22	1	0	0	0	0	0	0	0	1	1519	796	28	2		2	BRMS1L	14	36295809	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141636	36295809	71053731	14161	16307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	54					0	0	1	0	0	T	37050665	C	T	37050665	2	4	22	1	0	0	0	0	0	0	0	1	10501	639	23	1		1	NKX2-8	14	37050665	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	754856	37050665	70298875	14162	16308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402703.2_Nonsense_Mutation_p.R59*|PAX9_ENST00000554201.1_5'UTR			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													38	305					0	0	1	0	0	T	37132272	C	T	37132272	4	4	22	1	0	0	0	0	0	1	0	0	11533	760	27	1	181	1	PAX9	14	37132272	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81607	37132272	70217268	14163	16309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402703.2_Missense_Mutation_p.V198I|PAX9_ENST00000554201.1_Missense_Mutation_p.V11I			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													84	341					0	0	1	0	0	A	37132689	G	A	37132689	3	1	22	1	0	0	0	0	1	0	0	0	11533	1145	40	1	598	1	PAX9	14	37132689	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	417	37132689	70216851	14164	16310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	244					0	0	1	0	0	T	37194861	C	T	37194861	3	4	22	1	0	0	0	0	1	0	0	0	14539	632	22	2	572	2	SLC25A21	14	37194861	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62172	37194861	70154679	14165	16311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556451.1_Missense_Mutation_p.D90G|MIPOL1_ENST00000537471.1_Missense_Mutation_p.D121G|MIPOL1_ENST00000396294.2_Missense_Mutation_p.D121G|MIPOL1_ENST00000539062.2_Missense_Mutation_p.D90G|MIPOL1_ENST00000545536.1_Missense_Mutation_p.D90G|MIPOL1_ENST00000539174.2_3'UTR|MIPOL1_ENST00000536774.1_Intron	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													36	394					0	0	1	0	0	G	37737973	A	G	37737973	3	3	22	1	0	0	0	0	1	0	0	0	9641	333	12	3	372	3	MIPOL1	14	37737973	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	543112	37737973	69611567	14166	16312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539062.2_Silent_p.L394L|MIPOL1_ENST00000536774.1_Silent_p.L244L	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													21	115					0	0	1	0	0	T	38016120	C	T	38016120	2	4	22	1	0	0	0	0	0	0	0	1	9641	796	28	2		2	MIPOL1	14	38016120	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	278147	38016120	69333420	14167	16313											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540786.1_Missense_Mutation_p.T19I|FOXA1_ENST00000545425.2_5'UTR	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													101	465					0	0	1	0	0	A	38061834	G	A	38061834	3	1	22	1	0	0	0	0	1	0	0	0	6022	1261	44	2	1267	2	FOXA1	14	38061834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45714	38061834	69287706	14168	16314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													203	874					0	0	1	0	0	A	38678962	G	A	38678962	4	1	22	1	0	0	0	0	0	1	0	0	15253	1357	47	2	370	2	SSTR1	14	38678962	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	617128	38678962	68670578	14169	16315											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	299					0	0	1	0	0	C	38679130	T	C	38679130	3	2	22	1	0	0	0	0	1	0	0	0	15253	1580	55	3	538	3	SSTR1	14	38679130	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	168	38679130	68670410	14170	16316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													138	647					0	0	1	0	0	T	38724293	C	T	38724293	3	4	22	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	14171	16317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	1461					0	0	1	0	0	T	38724491	C	T	38724491	3	4	22	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	14172	16318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													304	1115					0	0	1	0	0	T	38724527	C	T	38724527	3	4	22	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	14173	16319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	493					0	0	1	0	0	T	38724650	C	T	38724650	3	4	22	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	14174	16320											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	332					0	0	1	0	0	A	38724747	G	A	38724747	4	1	22	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	14175	16321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545328.2_Missense_Mutation_p.R639Q|SEC23A_ENST00000536508.1_Missense_Mutation_p.R566Q|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													51	157					0	0	1	0	0	T	39510075	C	T	39510075	3	4	22	1	0	0	0	0	1	0	0	0	14045	652	23	1	306	1	SEC23A	14	39510075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	785328	39510075	67839465	14176	16322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002678.2	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													59	246					0	0	1	0	0	A	39650344	G	A	39650344	2	1	22	1	0	0	0	0	0	0	0	1	12208	962	34	2		2	PNN	14	39650344	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140269	39650344	67699196	14177	16323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002678.2	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													11	73					0	0	1	0	0	C	39650731	T	C	39650731	2	2	22	1	0	0	0	0	0	0	0	1	12208	1722	60	3		3	PNN	14	39650731	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	387	39650731	67698809	14178	16324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000298119.4_Silent_p.F95F|LRFN5_ENST00000554120.1_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)			39	247					0	0	1	0	0	T	42356113	C	T	42356113	2	4	22	1	0	0	0	0	0	0	0	1	8986	883	31	1		1	LRFN5	14	42356113	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2705382	42356113	64993427	14179	16325											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000298119.4_Silent_p.L173L|LRFN5_ENST00000554120.1_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)			43	175					0	0	1	0	0	A	42356347	G	A	42356347	2	1	22	1	0	0	0	0	0	0	0	1	8986	1310	46	2		2	LRFN5	14	42356347	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234	42356347	64993193	14180	16326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000298119.4_Silent_p.G301G|LRFN5_ENST00000554120.1_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)			104	416					0	0	1	0	0	G	42356731	A	G	42356731	2	3	22	1	0	0	0	0	0	0	0	1	8986	262	10	3		3	LRFN5	14	42356731	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	384	42356731	64992809	14181	16327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			149	618					0	0	1	0	0	G	42360508	A	G	42360508	3	3	22	1	0	0	0	0	1	0	0	0	8986	449	16	3	1447	3	LRFN5	14	42360508	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3777	42360508	64989032	14182	16328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			177	731					0	0	1	0	0	T	42360546	C	T	42360546	2	4	22	1	0	0	0	0	0	0	0	1	8986	697	25	2		2	LRFN5	14	42360546	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38	42360546	64988994	14183	16329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	440					0	0	1	0	0	T	44973805	C	T	44973805	3	4	22	1	0	0	0	0	1	0	0	0	6101	913	32	2	95	2	FSCB	14	44973805	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2613259	44973805	62375735	14184	16330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	184					5.4927e-09	5.7613e-09	1	1	0	T	44974140	G	T	44974140	3	4	22	1	0	0	0	0	1	0	0	0	6101	942	33	2	430	2	FSCB	14	44974140	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	335	44974140	62375400	14185	16331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	263					0	0	1	0	0	T	44974963	C	T	44974963	3	4	22	1	0	0	0	0	1	0	0	0	6101	797	28	2	1253	2	FSCB	14	44974963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	823	44974963	62374577	14186	16332											
FSCB	84075	broad.mit.edu	37	chr14	44975349	44975349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagcaggtctgggctccGctttagcagtggcctcttca	11	13	4	0	rs139581441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44975349G>A	ENST00000340446.4	-	1	1133	c.842C>T	c.(841-843)gCg>gTg	p.A281V		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	281						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)		TCTGGGCTCCGCTTTAGCAGT	0.483													78	306					0	0	1	0	0	A	44975349	G	A	44975349	3	1	22	1	0	0	0	0	1	0	0	0	6101	1087	38	1	1639	1	FSCB	14	44975349	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	386	44975349	62374191	14187	16333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361577.3_Missense_Mutation_p.L9I|FAM179B_ENST00000382233.2_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													48	215					3.21987e-24	3.67739e-24	1	1	0	A	45431649	C	A	45431649	3	1	22	1	0	0	0	0	1	0	0	0	5536	797	28	2	27	2	FAM179B	14	45431649	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	456300	45431649	61917891	14188	16334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361577.3_Missense_Mutation_p.A30T|FAM179B_ENST00000382233.2_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													53	150					0	0	1	0	0	A	45431712	G	A	45431712	3	1	22	1	0	0	0	0	1	0	0	0	5536	1087	38	1	90	1	FAM179B	14	45431712	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63	45431712	61917828	14189	16335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361577.3_Missense_Mutation_p.E271K|FAM179B_ENST00000382233.2_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													103	463					0	0	1	0	0	A	45432435	G	A	45432435	3	1	22	1	0	0	0	0	1	0	0	0	5536	943	33	2	813	2	FAM179B	14	45432435	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	723	45432435	61917105	14190	16336											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361577.3_Missense_Mutation_p.F277L|FAM179B_ENST00000382233.2_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													98	464					2.54621e-43	3.10758e-43	1	1	0	A	45432455	C	A	45432455	3	1	22	1	0	0	0	0	1	0	0	0	5536	912	32	2	833	2	FAM179B	14	45432455	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	45432455	61917085	14191	16337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361577.3_Silent_p.G288G|FAM179B_ENST00000382233.2_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													104	400					0	0	1	0	0	T	45432488	C	T	45432488	2	4	22	1	0	0	0	0	0	0	0	1	5536	726	26	2		2	FAM179B	14	45432488	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	45432488	61917052	14192	16338											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FAM179B_ENST00000361577.3_Missense_Mutation_p.A552T|KLHL28_ENST00000553817.1_5'UTR|FAM179B_ENST00000382233.2_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													89	436					0	0	1	0	0	A	45433278	G	A	45433278	3	1	22	1	0	0	0	0	1	0	0	0	5536	971	34	2	1656	2	FAM179B	14	45433278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	790	45433278	61916262	14193	16339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													145	745					1.55176e-64	1.96059e-64	1	1	0	T	45571884	G	T	45571884	3	4	22	1	0	0	0	0	1	0	0	0	12621	1029	36	2	736	2	PRPF39	14	45571884	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138606	45571884	61777656	14194	16340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				21	392					0	0	1	0	0	C	45605403	T	C	45605403	2	2	22	1	0	0	0	0	0	0	0	1	5704	1722	60	3		3	FANCM	14	45605403	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33519	45605403	61744137	14195	16341											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				118	617					0	0	1	0	0	C	45636216	G	C	45636216	3	2	22	1	0	0	0	0	1	0	0	0	5704	1261	44	5	1894	5	FANCM	14	45636216	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30813	45636216	61713324	14196	16342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				65	294					0	0	1	0	0	T	45645252	C	T	45645252	3	4	22	1	0	0	0	0	1	0	0	0	5704	884	31	1	3349	1	FANCM	14	45645252	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9036	45645252	61704288	14197	16343											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				16	401					0	0	1	0	0	C	45658561	A	C	45658561	3	2	22	1	0	0	0	0	1	0	0	0	5704	188	7	3	5414	3	FANCM	14	45658561	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13309	45658561	61690979	14198	16344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				82	367					0	0	1	0	0	T	45667953	C	T	45667953	2	4	22	1	0	0	0	0	0	0	0	1	5704	639	23	1		1	FANCM	14	45667953	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9392	45667953	61681587	14199	16345											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	385					0	0	1	0	0	T	47120482	C	T	47120482	3	4	22	1	0	0	0	0	1	0	0	0	13608	768	27	1	190	1	RPL10L	14	47120482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1452529	47120482	60229058	14200	16346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	499					0	0	1	0	0	T	47120892	C	T	47120892	2	4	22	1	0	0	0	0	0	0	0	1	13608	523	19	1		1	RPL10L	14	47120892	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	410	47120892	60228648	14201	16347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357362.3_Missense_Mutation_p.I659N|MDGA2_ENST00000399232.2_Missense_Mutation_p.I957N|MDGA2_ENST00000399222.3_Missense_Mutation_p.I90N|MDGA2_ENST00000439988.2_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													24	210					0	0	1	0	0	T	47324240	A	T	47324240	3	4	22	1	0	0	0	0	1	0	0	0	9457	101	4	5	219	5	MDGA2	14	47324240	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	203348	47324240	60025300	14202	16348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357362.3_Missense_Mutation_p.M262I|MDGA2_ENST00000399232.2_Missense_Mutation_p.M560I|MDGA2_ENST00000439988.2_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													35	875					0	0	1	0	0	T	47504353	C	T	47504353	3	4	22	1	0	0	0	0	1	0	0	0	9457	710	25	2	1437	2	MDGA2	14	47504353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180113	47504353	59845187	14203	16349											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	187					4.01344e-20	4.48984e-20	1	1	0	A	50088031	C	A	50088031	2	1	22	1	0	0	0	0	0	0	0	1	9593	871	31	4		4	MGAT2	14	50088031	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2583678	50088031	57261509	14204	16350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000216367.5_Missense_Mutation_p.S433N|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Missense_Mutation_p.S433N	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													45	150					0	0	1	0	0	T	50118009	C	T	50118009	3	4	22	1	0	0	0	0	1	0	0	0	12245	797	28	2	301	2	POLE2	14	50118009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29978	50118009	57231531	14205	16351											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	120					0	0	1	0	0	T	50218425	C	T	50218425	4	4	22	1	0	0	0	0	0	1	0	0	8397	644	23	1	1206	1	KLHDC1	14	50218425	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100416	50218425	57131115	14206	16352											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543680.1_Intron|SOS2_ENST00000555794.1_5'UTR	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													11	144					0	0	1	0	0	T	50641224	C	T	50641224	3	4	22	1	0	0	0	0	1	0	0	0	14991	536	19	1	3046	1	SOS2	14	50641224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	422799	50641224	56708316	14207	16353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000261699.4_Missense_Mutation_p.L108P|L2HGDH_ENST00000555423.1_Missense_Mutation_p.L108P|L2HGDH_ENST00000556393.1_5'UTR|L2HGDH_ENST00000421284.3_Missense_Mutation_p.L108P|L2HGDH_ENST00000555610.1_Missense_Mutation_p.L108P			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													101	429					0	0	1	0	0	G	50768820	A	G	50768820	3	3	22	1	0	0	0	0	1	0	0	0	8629	188	7	3	1100	3	L2HGDH	14	50768820	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	127596	50768820	56580720	14208	16354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													177	834					0	0	1	0	0	T	50799011	C	T	50799011	3	4	22	1	0	0	0	0	1	0	0	0	3175	884	31	1	146	1	CDKL1	14	50799011	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30191	50799011	56550529	14209	16355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358385.6_Silent_p.I455I|ATL1_ENST00000357032.3_Silent_p.I455I|ATL1_ENST00000354525.4_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													114	415					0	0	1	0	0	T	51094994	C	T	51094994	2	4	22	1	0	0	0	0	0	0	0	1	1105	903	32	2		2	ATL1	14	51094994	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	295983	51094994	56254546	14210	16356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000324330.9_Missense_Mutation_p.T1558M|NIN_ENST00000530997.2_Missense_Mutation_p.T1558M|NIN_ENST00000382043.4_Missense_Mutation_p.T845M|NIN_ENST00000382041.3_Missense_Mutation_p.T1558M|NIN_ENST00000389868.3_Missense_Mutation_p.T845M|NIN_ENST00000453196.1_Missense_Mutation_p.T1558M	NM_020921.3	NP_065972.3	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								19	101					0	0	1	0	0	A	51221342	G	A	51221342	3	1	22	1	0	0	0	0	1	0	0	0	10464	1145	40	1	1924	1	NIN	14	51221342	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126348	51221342	56128198	14211	16357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000324330.9_Missense_Mutation_p.R1272C|NIN_ENST00000530997.2_Missense_Mutation_p.R1272C|NIN_ENST00000382043.4_Intron|NIN_ENST00000382041.3_Missense_Mutation_p.R1272C|NIN_ENST00000389868.3_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.R1272C	NM_020921.3	NP_065972.3	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								186	689					0	0	1	0	0	A	51223934	G	A	51223934	3	1	22	1	0	0	0	0	1	0	0	0	10464	1145	40	1	2791	1	NIN	14	51223934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2592	51223934	56125606	14212	16358											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000324330.9_Missense_Mutation_p.S1173F|NIN_ENST00000530997.2_Missense_Mutation_p.S1173F|NIN_ENST00000382043.4_Intron|NIN_ENST00000382041.3_Missense_Mutation_p.S1173F|NIN_ENST00000389868.3_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.S1173F	NM_020921.3	NP_065972.3	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								21	835					0	0	1	0	0	A	51224230	G	A	51224230	3	1	22	1	0	0	0	0	1	0	0	0	10464	942	33	2	3087	2	NIN	14	51224230	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	296	51224230	56125310	14213	16359											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000324330.9_Nonsense_Mutation_p.R1131*|NIN_ENST00000530997.2_Nonsense_Mutation_p.R1131*|NIN_ENST00000382043.4_Intron|NIN_ENST00000382041.3_Nonsense_Mutation_p.R1131*|NIN_ENST00000389868.3_Intron|NIN_ENST00000453196.1_Nonsense_Mutation_p.R1131*	NM_020921.3	NP_065972.3	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								91	816					0	0	1	0	0	A	51224357	G	A	51224357	4	1	22	1	0	0	0	0	0	1	0	0	10464	1124	39	1	3214	1	NIN	14	51224357	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127	51224357	56125183	14214	16360											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000324330.9_Nonsense_Mutation_p.R278*|NIN_ENST00000530997.2_Nonsense_Mutation_p.R278*|NIN_ENST00000382043.4_Nonsense_Mutation_p.R278*|NIN_ENST00000382041.3_Nonsense_Mutation_p.R278*|NIN_ENST00000389868.3_Nonsense_Mutation_p.R278*|NIN_ENST00000453196.1_Nonsense_Mutation_p.R278*	NM_020921.3	NP_065972.3	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								34	161					0	0	1	0	0	A	51239168	G	A	51239168	4	1	22	1	0	0	0	0	0	1	0	0	10464	1153	40	1	5809	1	NIN	14	51239168	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14811	51239168	56110372	14215	16361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544180.2_Silent_p.T552T|PYGL_ENST00000532462.1_Silent_p.T586T	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													138	561					0	0	1	0	0	T	51378884	C	T	51378884	2	4	22	1	0	0	0	0	0	0	0	1	12913	871	31	1		1	PYGL	14	51378884	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139716	51378884	55970656	14216	16362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000544180.2_Silent_p.F515F|PYGL_ENST00000532462.1_Silent_p.F549F	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													123	693					0	0	1	0	0	A	51378995	G	A	51378995	2	1	22	1	0	0	0	0	0	0	0	1	12913	1165	41	2		2	PYGL	14	51378995	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	51378995	55970545	14217	16363											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544180.2_Silent_p.I429I|PYGL_ENST00000532462.1_Silent_p.I463I	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													127	558					0	0	1	0	0	A	51382068	G	A	51382068	2	1	22	1	0	0	0	0	0	0	0	1	12913	1048	37	1		1	PYGL	14	51382068	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3073	51382068	55967472	14218	16364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356218.4_Missense_Mutation_p.L76F|FRMD6_ENST00000344768.5_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													15	57					0	0	1	0	0	T	52167809	C	T	52167809	3	4	22	1	0	0	0	0	1	0	0	0	6089	797	28	2	236	2	FRMD6	14	52167809	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	785741	52167809	55181731	14219	16365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356218.4_Silent_p.L309L|FRMD6_ENST00000344768.5_Silent_p.L317L|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													90	329					0	0	1	0	0	T	52182142	C	T	52182142	2	4	22	1	0	0	0	0	0	0	0	1	6089	912	32	2		2	FRMD6	14	52182142	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14333	52182142	55167398	14220	16366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	115					0	0	1	0	0	A	52493938	G	A	52493938	2	1	22	1	0	0	0	0	0	0	0	1	10462	1074	38	1		1	NID2	14	52493938	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	311796	52493938	54855602	14221	16367											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													199	778					1.12399e-60	1.41402e-60	1	1	0	A	52534638	C	A	52534638	3	1	22	1	0	0	0	0	1	0	0	0	10462	739	26	2	3739	2	NID2	14	52534638	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40700	52534638	54814902	14222	16368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	335					1.02487e-32	1.21166e-32	1	1	0	A	52735160	C	A	52735160	3	1	22	1	0	0	0	0	1	0	0	0	12790	796	28	2	630	2	PTGDR	14	52735160	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200522	52735160	54614380	14223	16369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													242	912					3.91311e-84	5.01297e-84	1	1	0	A	52735331	C	A	52735331	3	1	22	1	0	0	0	0	1	0	0	0	12790	796	28	2	801	2	PTGDR	14	52735331	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171	52735331	54614209	14224	16370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	436					0	0	1	0	0	T	52957612	C	T	52957612	3	4	22	1	0	0	0	0	1	0	0	0	16857	710	25	2	1657	2	TXNDC16	14	52957612	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	222281	52957612	54391928	14225	16371											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	371					7.25294e-45	8.88171e-45	1	1	0	T	52978026	G	T	52978026	3	4	22	1	0	0	0	0	1	0	0	0	16857	1020	36	2	1841	2	TXNDC16	14	52978026	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20414	52978026	54371514	14226	16372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53348188C>A	ENST00000395631.2	-	5	743		c.e5-1		FERMT2_ENST00000553373.1_Splice_Site|FERMT2_ENST00000343279.4_Splice_Site|FERMT2_ENST00000399304.3_Splice_Site|FERMT2_ENST00000341590.3_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													38	482					9.45814e-24	1.07742e-23	1	1	0	A	53348188	C	A	53348188	5	1	22	1	0	0	0	0	0	0	1	0	5851	695	24	2	1597	2	FERMT2	14	53348188	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	370162	53348188	54001352	14227	16373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357758.3_Intron|DDHD1_ENST00000555621.1_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													9	34					0	0	1	0	0	T	53518626	C	T	53518626	2	4	22	1	0	0	0	0	0	0	0	1	4349	523	19	1		1	DDHD1	14	53518626	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170438	53518626	53830914	14228	16374											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000323669.5_Missense_Mutation_p.H446R|DDHD1_ENST00000395606.1_Missense_Mutation_p.H453R	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													76	317					0	0	1	0	0	C	53540518	T	C	53540518	3	2	22	1	0	0	0	0	1	0	0	0	4349	1464	51	3	1401	3	DDHD1	14	53540518	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21892	53540518	53809022	14229	16375											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000323669.5_Silent_p.A396A|DDHD1_ENST00000395606.1_Silent_p.A403A	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													83	330					0	0	1	0	0	A	53558604	G	A	53558604	2	1	22	1	0	0	0	0	0	0	0	1	4349	1335	47	2		2	DDHD1	14	53558604	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18086	53558604	53790936	14230	16376											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417573.1_Missense_Mutation_p.R211Q|BMP4_ENST00000558984.1_Missense_Mutation_p.R211Q|BMP4_ENST00000559087.1_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													78	442					0	0	1	0	0	T	54417345	C	T	54417345	3	4	22	1	0	0	0	0	1	0	0	0	1461	652	23	1	598	1	BMP4	14	54417345	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	858741	54417345	52932195	14231	16377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417573.1_Missense_Mutation_p.V190A|BMP4_ENST00000558984.1_Missense_Mutation_p.V190A|BMP4_ENST00000559087.1_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													75	297					0	0	1	0	0	G	54417408	A	G	54417408	3	3	22	1	0	0	0	0	1	0	0	0	1461	159	6	3	661	3	BMP4	14	54417408	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	63	54417408	52932132	14232	16378											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442975.2_Missense_Mutation_p.Y101C|CDKN3_ENST00000458126.2_Missense_Mutation_p.Y141C|CDKN3_ENST00000395577.2_Missense_Mutation_p.Y95C|CDKN3_ENST00000543789.2_Intron|CDKN3_ENST00000335183.6_Missense_Mutation_p.Y141C|CDKN3_ENST00000556305.1_3'UTR			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													8	503					0	0	1	0	0	G	54882622	A	G	54882622	3	3	22	1	0	0	0	0	1	0	0	0	3189	449	16	3	444	3	CDKN3	14	54882622	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	465214	54882622	52466918	14233	16379											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	309					0	0	1	0	0	A	55004875	G	A	55004875	3	1	22	1	0	0	0	0	1	0	0	0	3328	1174	41	2	795	2	CGRRF1	14	55004875	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122253	55004875	52344665	14234	16380											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543643.2_Missense_Mutation_p.A169V|GCH1_ENST00000395514.1_Missense_Mutation_p.A169V|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000536224.2_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													41	164					0	0	1	0	0	A	55326402	G	A	55326402	3	1	22	1	0	0	0	0	1	0	0	0	6331	1087	38	1	362	1	GCH1	14	55326402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	321527	55326402	52023138	14235	16381											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420358.2_Nonsense_Mutation_p.C334*|WDHD1_ENST00000421192.1_Nonsense_Mutation_p.C334*|WDHD1_ENST00000359167.4_Intron	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													47	207					8.20599e-20	9.16906e-20	1	1	0	T	55455901	G	T	55455901	4	4	22	1	0	0	0	0	0	1	0	0	17331	963	34	2	2074	2	WDHD1	14	55455901	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129499	55455901	51893639	14236	16382											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420358.2_Missense_Mutation_p.K198N|WDHD1_ENST00000421192.1_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													24	109					4.72057e-08	4.92026e-08	1	1	0	A	55462511	C	A	55462511	3	1	22	1	0	0	0	0	1	0	0	0	17331	680	24	2	2490	2	WDHD1	14	55462511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6610	55462511	51887029	14237	16383											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000555846.1_Missense_Mutation_p.R111W|SOCS4_ENST00000339298.2_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													10	560					0	0	1	0	0	T	55510090	C	T	55510090	3	4	22	1	0	0	0	0	1	0	0	0	14970	875	31	1	333	1	SOCS4	14	55510090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47579	55510090	51839450	14238	16384											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000555846.1_Nonsense_Mutation_p.C440*|SOCS4_ENST00000339298.2_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													36	117					6.90743e-12	7.39364e-12	1	1	0	A	55511079	C	A	55511079	4	1	22	1	0	0	0	0	0	1	0	0	14970	805	28	2	1322	2	SOCS4	14	55511079	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	989	55511079	51838461	14239	16385											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000554715.1_Missense_Mutation_p.G108C|LGALS3_ENST00000553755.1_3'UTR	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													9	194					0.0477658	0.0478703	1	1	0	T	55605066	G	T	55605066	3	4	22	1	0	0	0	0	1	0	0	0	8782	1348	47	2	328	2	LGALS3	14	55605066	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93987	55605066	51744474	14240	16386											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	306					0	0	1	0	0	A	55636179	G	A	55636179	4	1	22	1	0	0	0	0	0	1	0	0	4591	1153	40	1	1181	1	DLGAP5	14	55636179	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31113	55636179	51713361	14241	16387											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440021.1_Silent_p.S129S|FBXO34_ENST00000555087.1_3'UTR	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													54	183					0	0	1	0	0	C	55817495	T	C	55817495	2	2	22	1	0	0	0	0	0	0	0	1	5777	1635	57	3		3	FBXO34	14	55817495	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	181316	55817495	51532045	14242	16388											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	663					0	0	1	0	0	T	55818033	C	T	55818033	3	4	22	1	0	0	0	0	1	0	0	0	5777	652	23	1	927	1	FBXO34	14	55818033	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	538	55818033	51531507	14243	16389											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	502					0	0	1	0	0	A	55818571	G	A	55818571	3	1	22	1	0	0	0	0	1	0	0	0	5777	1261	44	2	1465	2	FBXO34	14	55818571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	538	55818571	51530969	14244	16390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395308.1_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			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								11	56					0	0	1	0	0	G	56103175	A	G	56103175	2	3	22	1	0	0	0	0	0	0	0	1	8624	378	14	3		3	KTN1	14	56103175	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	284604	56103175	51246365	14245	16391											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000555006.1_Missense_Mutation_p.A182D|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000554788.1_3'UTR	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													75	267					4.14589e-37	4.97555e-37	1	1	0	T	57268778	G	T	57268778	3	4	22	1	0	0	0	0	1	0	0	0	11368	971	34	2	328	2	OTX2	14	57268778	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1165603	57268778	50080762	14246	16392											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000555006.1_Missense_Mutation_p.S3P|OTX2_ENST00000554559.1_Missense_Mutation_p.S3P|OTX2_ENST00000554788.1_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													24	114					0	0	1	0	0	G	57272168	A	G	57272168	3	3	22	1	0	0	0	0	1	0	0	0	11368	275	10	3	898	3	OTX2	14	57272168	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3390	57272168	50077372	14247	16393											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340918.7_Missense_Mutation_p.E68D|EXOC5_ENST00000556911.1_5'UTR	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													20	434					4.35082e-09	4.56966e-09	1	1	0	A	57713495	C	A	57713495	3	1	22	1	0	0	0	0	1	0	0	0	5334	796	28	2	1986	2	EXOC5	14	57713495	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	441327	57713495	49636045	14248	16394											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	134					8.34094e-07	8.61956e-07	1	1	0	T	58063507	G	T	58063507	3	4	22	1	0	0	0	0	1	0	0	0	14646	1203	42	2	1488	2	SLC35F4	14	58063507	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	350012	58063507	49286033	14249	16395											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	313					0	0	1	0	0	C	58605363	A	C	58605363	2	2	22	1	0	0	0	0	0	0	0	1	1777	146	6	3		3	C14orf37	14	58605363	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	541856	58605363	48744177	14250	16396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	367					0	0	1	0	0	C	58605508	T	C	58605508	3	2	22	1	0	0	0	0	1	0	0	0	1777	1812	63	3	1783	3	C14orf37	14	58605508	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	145	58605508	48744032	14251	16397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	463					1.33834e-09	1.40959e-09	1	1	0	A	58605812	C	A	58605812	3	1	22	1	0	0	0	0	1	0	0	0	1777	797	28	2	2087	2	C14orf37	14	58605812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	304	58605812	48743728	14252	16398											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	354					0	0	1	0	0	A	58697142	G	A	58697142	3	1	22	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	14253	16399											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395168.3_Silent_p.P303P|ARID4A_ENST00000348476.3_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													29	166					0	0	1	0	0	G	58811415	T	G	58811415	2	3	22	1	0	0	0	0	0	0	0	1	916	1567	55	3		3	ARID4A	14	58811415	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	114273	58811415	48538125	14254	16400											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-517O13.3_ENST00000556390.1_RNA|ARID4A_ENST00000395168.3_Missense_Mutation_p.A1199T|ARID4A_ENST00000348476.3_Missense_Mutation_p.A1184T|ARID4A_ENST00000431317.2_Missense_Mutation_p.A1184T	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													26	98					0	0	1	0	0	A	58838690	G	A	58838690	3	1	22	1	0	0	0	0	1	0	0	0	916	1319	46	2	3847	2	ARID4A	14	58838690	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27275	58838690	48510850	14255	16401											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556134.1_Missense_Mutation_p.A974T|KIAA0586_ENST00000354386.6_Missense_Mutation_p.A1042T|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.A913T	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													26	120					0	0	1	0	0	A	58949251	G	A	58949251	3	1	22	1	0	0	0	0	1	0	0	0	8228	1087	38	1	2815	1	KIAA0586	14	58949251	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110561	58949251	48400289	14256	16402											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556134.1_Silent_p.T1046T|KIAA0586_ENST00000354386.6_Silent_p.T1114T|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Silent_p.T985T	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													13	382					0	0	1	0	0	A	58953763	G	A	58953763	2	1	22	1	0	0	0	0	0	0	0	1	8228	1074	38	1		1	KIAA0586	14	58953763	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4512	58953763	48395777	14257	16403											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556859.1_Intron|DACT1_ENST00000395151.3_Intron|DACT1_ENST00000335867.4_Missense_Mutation_p.R112K|DACT1_ENST00000555845.1_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													16	94					0	0	1	0	0	A	59105255	G	A	59105255	3	1	22	1	0	0	0	0	1	0	0	0	4246	942	33	2	337	2	DACT1	14	59105255	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	151492	59105255	48244285	14258	16404											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556859.1_Intron|DACT1_ENST00000541264.2_Intron|DACT1_ENST00000395153.3_Intron|DACT1_ENST00000395151.3_5'UTR|DACT1_ENST00000555845.1_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													75	377					0	0	1	0	0	A	59112077	G	A	59112077	3	1	22	1	0	0	0	0	1	0	0	0	4246	1377	48	2	750	2	DACT1	14	59112077	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6822	59112077	48237463	14259	16405											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556859.1_Missense_Mutation_p.Q199H|DACT1_ENST00000541264.2_Missense_Mutation_p.Q199H|DACT1_ENST00000395151.3_Missense_Mutation_p.Q199H|DACT1_ENST00000335867.4_Missense_Mutation_p.Q480H	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													19	685					3.99206e-14	4.32713e-14	1	1	0	T	59112781	G	T	59112781	3	4	22	1	0	0	0	0	1	0	0	0	4246	962	34	2	1454	2	DACT1	14	59112781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	704	59112781	48236759	14260	16406											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556135.1_Silent_p.T27T|DAAM1_ENST00000351081.1_Silent_p.T27T|DAAM1_ENST00000360909.3_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													97	419					0	0	1	0	0	A	59730276	G	A	59730276	2	1	22	1	0	0	0	0	0	0	0	1	4239	1132	40	1		1	DAAM1	14	59730276	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	617495	59730276	47619264	14261	16407											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000351081.1_Missense_Mutation_p.K489N|DAAM1_ENST00000360909.3_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													52	286					0	0	1	0	0	C	59797313	A	C	59797313	3	2	22	1	0	0	0	0	1	0	0	0	4239	11	1	3	1513	3	DAAM1	14	59797313	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67037	59797313	47552227	14262	16408											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.R712W|DAAM1_ENST00000360909.3_Missense_Mutation_p.R702W	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													21	166					0	0	1	0	0	T	59814285	C	T	59814285	3	4	22	1	0	0	0	0	1	0	0	0	4239	527	19	1	2200	1	DAAM1	14	59814285	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16972	59814285	47535255	14263	16409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.R1041L|DAAM1_ENST00000360909.3_Missense_Mutation_p.R1031L	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													51	185					1.81118e-26	2.08805e-26	1	1	0	T	59835462	G	T	59835462	3	4	22	1	0	0	0	0	1	0	0	0	4239	1087	38	4	3220	4	DAAM1	14	59835462	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21177	59835462	47514078	14264	16410											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	JKAMP_ENST00000356057.5_Silent_p.R258R|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000261247.9_Silent_p.R250R|JKAMP_ENST00000425728.2_Silent_p.R244R			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													72	308					0	0	1	0	0	C	59970602	A	C	59970602	2	2	22	1	0	0	0	0	0	0	0	1	7993	64	3	3		3	JKAMP	14	59970602	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	135140	59970602	47378938	14265	16411											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557422.1_5'UTR|RTN1_ENST00000395090.1_Silent_p.D69D	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													28	121					0	0	1	0	0	A	60074020	G	A	60074020	2	1	22	1	0	0	0	0	0	0	0	1	13777	1136	40	1		1	RTN1	14	60074020	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103418	60074020	47275520	14266	16412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	546					0	0	1	0	0	T	60212623	C	T	60212623	3	4	22	1	0	0	0	0	1	0	0	0	13777	681	24	2	1609	2	RTN1	14	60212623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138603	60212623	47136917	14267	16413											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_777638.2	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													39	189					0	0	1	0	0	C	60921756	T	C	60921756	3	2	22	1	0	0	0	0	1	0	0	0	1778	1435	50	3	309	3	C14orf39	14	60921756	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	709133	60921756	46427784	14268	16414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	335					0	0	1	0	0	T	60977961	C	T	60977961	2	4	22	1	0	0	0	0	0	0	0	1	14406	776	27	1		1	SIX6	14	60977961	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56205	60977961	46371579	14269	16415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	338					0	0	1	0	0	C	61113260	T	C	61113260	3	2	22	1	0	0	0	0	1	0	0	0	14401	1609	56	3	262	3	SIX1	14	61113260	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	135299	61113260	46236280	14270	16416											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	251					0	0	1	0	0	A	61115456	G	A	61115456	3	1	22	1	0	0	0	0	1	0	0	0	14401	1116	39	1	410	1	SIX1	14	61115456	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2196	61115456	46234084	14271	16417											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	155					0	0	1	0	0	G	61180513	A	G	61180513	3	3	22	1	0	0	0	0	1	0	0	0	14404	159	6	3	391	3	SIX4	14	61180513	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65057	61180513	46169027	14272	16418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	468					0	0	1	0	0	T	61186709	C	T	61186709	3	4	22	1	0	0	0	0	1	0	0	0	14404	478	17	2	1035	2	SIX4	14	61186709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6196	61186709	46162831	14273	16419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	401					0	0	1	0	0	T	61186943	C	T	61186943	3	4	22	1	0	0	0	0	1	0	0	0	14404	478	17	2	1269	2	SIX4	14	61186943	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	234	61186943	46162597	14274	16420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	277					0	0	1	0	0	T	61442419	C	T	61442419	2	4	22	1	0	0	0	0	0	0	0	1	16628	796	28	2		2	TRMT5	14	61442419	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255476	61442419	45907121	14275	16421											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	356					0	0	1	0	0	T	61446005	C	T	61446005	3	4	22	1	0	0	0	0	1	0	0	0	16628	855	30	2	934	2	TRMT5	14	61446005	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3586	61446005	45903535	14276	16422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556245.1_3'UTR|RP11-47I22.4_ENST00000556347.1_Silent_p.A109A|PRKCH_ENST00000555082.1_Missense_Mutation_p.E444K	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													290	1412					0	0	1	0	0	A	62014512	G	A	62014512	3	1	22	1	0	0	0	0	1	0	0	0	12565	1059	37	1	1863	1	PRKCH	14	62014512	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	568507	62014512	45335028	14277	16423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557538.1_Missense_Mutation_p.S633Y|HIF1A_ENST00000337138.4_Missense_Mutation_p.S692Y|HIF1A_ENST00000539097.1_Missense_Mutation_p.S716Y|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000323441.6_Missense_Mutation_p.S692Y|HIF1A-AS2_ENST00000554254.1_lincRNA			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													65	308					1.85257e-25	2.12574e-25	1	1	0	A	62207888	C	A	62207888	3	1	22	1	0	0	0	0	1	0	0	0	7144	913	32	2	2121	2	HIF1A	14	62207888	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193376	62207888	45141652	14278	16424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	255					0	0	1	0	0	T	62234006	C	T	62234006	3	4	22	1	0	0	0	0	1	0	0	0	14888	710	25	2	375	2	SNAPC1	14	62234006	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26118	62234006	45115534	14279	16425											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													119	430					0	0	1	0	0	A	63175128	G	A	63175128	3	1	22	1	0	0	0	0	1	0	0	0	8079	1087	38	1	905	1	KCNH5	14	63175128	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	941122	63175128	44174412	14280	16426											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	196					0	0	1	0	0	T	63246595	C	T	63246595	3	4	22	1	0	0	0	0	1	0	0	0	8079	710	25	2	1138	2	KCNH5	14	63246595	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71467	63246595	44102945	14281	16427											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	337					0	0	1	0	0	A	63269112	G	A	63269112	3	1	22	1	0	0	0	0	1	0	0	0	8079	1203	42	2	1255	2	KCNH5	14	63269112	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22517	63269112	44080428	14282	16428											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	318					0	0	1	0	0	T	63269190	C	T	63269190	3	4	22	1	0	0	0	0	1	0	0	0	8079	768	27	1	1333	1	KCNH5	14	63269190	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78	63269190	44080350	14283	16429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394964.2_Silent_p.T89T|KCNH5_ENST00000420622.2_Silent_p.T147T|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													65	267					0	0	1	0	0	T	63453898	C	T	63453898	2	4	22	1	0	0	0	0	0	0	0	1	8079	871	31	1		1	KCNH5	14	63453898	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	184708	63453898	43895642	14284	16430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394964.2_Nonsense_Mutation_p.C34*|KCNH5_ENST00000420622.2_Nonsense_Mutation_p.C92*|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													40	271					1.49673e-21	1.68722e-21	1	1	0	T	63473112	G	T	63473112	4	4	22	1	0	0	0	0	0	1	0	0	8079	963	34	2	2760	2	KCNH5	14	63473112	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19214	63473112	43876428	14285	16431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000555899.1_Silent_p.S30S|PPP2R5E_ENST00000553266.1_5'UTR	NM_006246.2	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													13	417					0	0	1	0	0	T	64006314	C	T	64006314	2	4	22	1	0	0	0	0	0	0	0	1	12445	755	27	1		1	PPP2R5E	14	64006314	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	533202	64006314	43343226	14286	16432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	401					0	0	1	0	0	T	64066119	C	T	64066119	3	4	22	1	0	0	0	0	1	0	0	0	17396	797	28	2	625	2	WDR89	14	64066119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59805	64066119	43283421	14287	16433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	111					0	0	1	0	0	G	64152848	A	G	64152848	3	3	22	1	0	0	0	0	1	0	0	0	14273	449	16	3	28	3	SGPP1	14	64152848	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	86729	64152848	43196692	14288	16434											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	375					0	0	1	0	0	C	64434512	T	C	64434512	3	2	22	1	0	0	0	0	1	0	0	0	15503	1580	55	3	1114	3	SYNE2	14	64434512	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	281664	64434512	42915028	14289	16435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	132					0	0	1	0	0	G	64489508	A	G	64489508	3	3	22	1	0	0	0	0	1	0	0	0	15503	14	1	3	5710	3	SYNE2	14	64489508	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	54996	64489508	42860032	14290	16436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	154					9.85521e-28	1.14271e-27	1	1	0	A	64496734	C	A	64496734	3	1	22	1	0	0	0	0	1	0	0	0	15503	681	24	2	7006	2	SYNE2	14	64496734	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7226	64496734	42852806	14291	16437											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	261					0	0	1	0	0	A	64518405	G	A	64518405	3	1	22	1	0	0	0	0	1	0	0	0	15503	1174	41	2	7960	2	SYNE2	14	64518405	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21671	64518405	42831135	14292	16438											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	369					7.07328e-35	8.4269e-35	1	1	0	T	64518467	G	T	64518467	3	4	22	1	0	0	0	0	1	0	0	0	15503	962	34	2	8022	2	SYNE2	14	64518467	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62	64518467	42831073	14293	16439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	219					2.01807e-28	2.34828e-28	1	1	0	T	64519119	G	T	64519119	4	4	22	1	0	0	0	0	0	1	0	0	15503	943	33	2	8674	2	SYNE2	14	64519119	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	652	64519119	42830421	14294	16440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	290					9.55421e-19	1.06232e-18	1	1	0	T	64520359	G	T	64520359	3	4	22	1	0	0	0	0	1	0	0	0	15503	971	34	2	9914	2	SYNE2	14	64520359	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1240	64520359	42829181	14295	16441											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	309					1.2644e-06	1.30616e-06	1	1	0	T	64532244	G	T	64532244	3	4	22	1	0	0	0	0	1	0	0	0	15503	1203	42	2	10505	2	SYNE2	14	64532244	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11885	64532244	42817296	14296	16442											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	225					0	0	1	0	0	T	64532268	C	T	64532268	3	4	22	1	0	0	0	0	1	0	0	0	15503	893	31	1	10529	1	SYNE2	14	64532268	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24	64532268	42817272	14297	16443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	253					0.27861	0.278732	1	1	0	T	64532312	G	T	64532312	4	4	22	1	0	0	0	0	0	1	0	0	15503	943	33	2	10573	2	SYNE2	14	64532312	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44	64532312	42817228	14298	16444											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	254					4.36969e-10	4.6211e-10	1	1	0	T	64542662	G	T	64542662	5	4	22	1	0	0	0	0	0	0	1	0	15503	1014	35	2	11076	2	SYNE2	14	64542662	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10350	64542662	42806878	14299	16445											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SYNE2_ENST00000554584.1_Silent_p.H4809H|SYNE2_ENST00000394768.2_Silent_p.H1277H|ESR2_ENST00000542956.1_Intron|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													78	311					0	0	1	0	0	T	64604534	C	T	64604534	2	4	22	1	0	0	0	0	0	0	0	1	15503	535	19	1		1	SYNE2	14	64604534	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61872	64604534	42745006	14300	16446											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SYNE2_ENST00000554584.1_Missense_Mutation_p.M5189I|SYNE2_ENST00000394768.2_Missense_Mutation_p.M1657I|ESR2_ENST00000542956.1_Intron|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													49	235					0	0	1	0	0	A	64625366	G	A	64625366	3	1	22	1	0	0	0	0	1	0	0	0	15503	1319	46	2	16154	2	SYNE2	14	64625366	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20832	64625366	42724174	14301	16447											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.R2116C|ESR2_ENST00000542956.1_Intron|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													25	123					0	0	1	0	0	T	64637136	C	T	64637136	3	4	22	1	0	0	0	0	1	0	0	0	15503	768	27	1	17561	1	SYNE2	14	64637136	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11770	64637136	42712404	14302	16448											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SYNE2_ENST00000554584.1_Silent_p.L6288L|SYNE2_ENST00000394768.2_Silent_p.L2714L|SYNE2_ENST00000555022.1_Silent_p.L207L|SYNE2_ENST00000554805.1_Silent_p.L112L|ESR2_ENST00000542956.1_Intron|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													105	373					0	0	1	0	0	T	64679654	C	T	64679654	2	4	22	1	0	0	0	0	0	0	0	1	15503	842	30	2		2	SYNE2	14	64679654	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42518	64679654	42669886	14303	16449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SYNE2_ENST00000554584.1_Silent_p.S6709S|SYNE2_ENST00000394768.2_Silent_p.S3178S|SYNE2_ENST00000555022.1_Silent_p.S671S|SYNE2_ENST00000554805.1_Silent_p.S576S|SYNE2_ENST00000458046.2_Silent_p.S464S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000441438.2_Silent_p.S338S|SYNE2_ENST00000344113.4_Silent_p.S6793S|SYNE2_ENST00000358025.3_Silent_p.S6816S|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													14	498					0	0	1	0	0	T	64691244	C	T	64691244	2	4	22	1	0	0	0	0	0	0	0	1	15503	639	23	1		1	SYNE2	14	64691244	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11590	64691244	42658296	14304	16450											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SYNE2_ENST00000554584.1_Silent_p.P6754P|SYNE2_ENST00000394768.2_Missense_Mutation_p.R3219Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.R712Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.R617Q|SYNE2_ENST00000458046.2_Missense_Mutation_p.R505Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000441438.2_Missense_Mutation_p.R378Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.R6834Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6856Q|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													51	184					0	0	1	0	0	A	64692087	G	A	64692087	3	1	22	1	0	0	0	0	1	0	0	0	15503	1116	39	1	21070	1	SYNE2	14	64692087	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	843	64692087	42657453	14305	16451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000554572.1_Missense_Mutation_p.R227H|ESR2_ENST00000553796.1_Missense_Mutation_p.R227H|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Missense_Mutation_p.R227H|ESR2_ENST00000542956.1_Missense_Mutation_p.R227H|ESR2_ENST00000357782.2_Missense_Mutation_p.R227H|ESR2_ENST00000267525.6_Missense_Mutation_p.R227H|ESR2_ENST00000353772.3_Missense_Mutation_p.R227H|ESR2_ENST00000341099.4_Missense_Mutation_p.R227H|ESR2_ENST00000555278.1_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													59	230					0	0	1	0	0	T	64727439	C	T	64727439	3	4	22	1	0	0	0	0	1	0	0	0	5285	768	27	1	1018	1	ESR2	14	64727439	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35352	64727439	42622101	14306	16452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	329					0	0	1	0	0	T	64988779	C	T	64988779	3	4	22	1	0	0	0	0	1	0	0	0	17581	681	24	2	559	2	ZBTB1	14	64988779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	261340	64988779	42360761	14307	16453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	217					0	0	1	0	0	A	65007778	G	A	65007778	3	1	22	1	0	0	0	0	1	0	0	0	7454	1087	38	1	213	1	HSPA2	14	65007778	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18999	65007778	42341762	14308	16454											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	293					0	0	1	0	0	T	65008035	C	T	65008035	2	4	22	1	0	0	0	0	0	0	0	1	7454	726	26	2		2	HSPA2	14	65008035	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257	65008035	42341505	14309	16455											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000484731.2_Missense_Mutation_p.Q126H|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.Q621H	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													7	279					8.12818e-05	8.2724e-05	1	1	0	T	65208098	G	T	65208098	3	4	22	1	0	0	0	0	1	0	0	0	12118	991	35	2	1745	2	PLEKHG3	14	65208098	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200063	65208098	42141442	14310	16456											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000484731.2_Missense_Mutation_p.V581A|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.V1076A	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													10	289					0	0	1	0	0	C	65209988	T	C	65209988	3	2	22	1	0	0	0	0	1	0	0	0	12118	1667	58	3	3113	3	PLEKHG3	14	65209988	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1890	65209988	42139552	14311	16457											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389720.3_Missense_Mutation_p.R1646Q|SPTB_ENST00000556626.1_Missense_Mutation_p.R1646Q|SPTB_ENST00000389721.5_Missense_Mutation_p.R1646Q|SPTB_ENST00000542895.1_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													8	20					0	0	1	0	0	T	65241151	C	T	65241151	3	4	22	1	0	0	0	0	1	0	0	0	15174	652	23	1	2170	1	SPTB	14	65241151	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31163	65241151	42108389	14312	16458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389720.3_Silent_p.D1362D|SPTB_ENST00000556626.1_Silent_p.D1362D|SPTB_ENST00000389721.5_Silent_p.D1362D|SPTB_ENST00000542895.1_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													157	753					0	0	1	0	0	A	65249188	G	A	65249188	2	1	22	1	0	0	0	0	0	0	0	1	15174	1136	40	1		1	SPTB	14	65249188	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8037	65249188	42100352	14313	16459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389720.3_Missense_Mutation_p.S1123F|SPTB_ENST00000556626.1_Missense_Mutation_p.S1123F|SPTB_ENST00000389721.5_Missense_Mutation_p.S1123F|SPTB_ENST00000542895.1_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													61	234					0	0	1	0	0	A	65253315	G	A	65253315	3	1	22	1	0	0	0	0	1	0	0	0	15174	942	33	2	3771	2	SPTB	14	65253315	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4127	65253315	42096225	14314	16460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389720.3_Silent_p.Q1047Q|SPTB_ENST00000556626.1_Silent_p.Q1047Q|SPTB_ENST00000389721.5_Silent_p.Q1047Q|SPTB_ENST00000542895.1_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													14	451					0	0	1	0	0	T	65253542	C	T	65253542	2	4	22	1	0	0	0	0	0	0	0	1	15174	796	28	2		2	SPTB	14	65253542	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227	65253542	42095998	14315	16461											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389720.3_Silent_p.A705A|SPTB_ENST00000556626.1_Silent_p.A705A|SPTB_ENST00000389721.5_Silent_p.A705A|SPTB_ENST00000542895.1_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													49	189					0	0	1	0	0	T	65260266	C	T	65260266	2	4	22	1	0	0	0	0	0	0	0	1	15174	755	27	1		1	SPTB	14	65260266	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6724	65260266	42089274	14316	16462											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389720.3_Missense_Mutation_p.R416W|SPTB_ENST00000556626.1_Missense_Mutation_p.R416W|SPTB_ENST00000389721.5_Missense_Mutation_p.R416W|SPTB_ENST00000542895.1_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													7	303					0	0	1	0	0	A	65263370	G	A	65263370	3	1	22	1	0	0	0	0	1	0	0	0	15174	1057	37	1	5913	1	SPTB	14	65263370	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3104	65263370	42086170	14317	16463											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CHURC1-FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000542227.1_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													68	426					0	0	1	0	0	A	65409265	G	A	65409265	2	1	22	1	0	0	0	0	0	0	0	1	6781	1190	42	2		2	GPX2	14	65409265	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145895	65409265	41940275	14318	16464											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CHURC1-FNTB_ENST00000447296.2_Intron|RAB15_ENST00000436278.2_Silent_p.P78P|RAB15_ENST00000426039.3_Intron|CHURC1-FNTB_ENST00000542227.1_Intron|RAB15_ENST00000533601.2_Intron	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													10	275					0	0	1	0	0	T	65417744	C	T	65417744	2	4	22	1	0	0	0	0	0	0	0	1	12953	639	23	1		1	RAB15	14	65417744	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8479	65417744	41931796	14319	16465											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000315266.5_Silent_p.L555L|GPHN_ENST00000543237.1_Silent_p.L601L|GPHN_ENST00000305960.9_Silent_p.L524L|GPHN_ENST00000544752.2_3'UTR	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								10	617					0	0	1	0	0	T	67610094	C	T	67610094	2	4	22	1	0	0	0	0	0	0	0	1	6650	813	29	2		2	GPHN	14	67610094	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2192350	67610094	39739446	14320	16466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	117					0	0	1	0	0	T	67940506	C	T	67940506	2	4	22	1	0	0	0	0	0	0	0	1	16208	871	31	1		1	TMEM229B	14	67940506	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	330412	67940506	39409034	14321	16467											
PLEKHH1	57475	broad.mit.edu	37	chr14	68045259	68045259	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccctggcagtgctggcaGctcctcgctctgtgtgctcc	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68045259G>A	ENST00000329153.5	+	20	2892	c.2760G>A	c.(2758-2760)caG>caA	p.Q920Q		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	920	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)		AGTGCTGGCAGCTCCTCGCTC	0.582													8	70					0	0	1	0	0	A	68045259	G	A	68045259	2	1	22	1	0	0	0	0	0	0	0	1	12124	962	34	2		2	PLEKHH1	14	68045259	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104753	68045259	39304281	14322	16468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	291					1.19403e-26	1.3775e-26	1	1	0	T	68113681	G	T	68113681	3	4	22	1	0	0	0	0	1	0	0	0	855	942	33	2	683	2	ARG2	14	68113681	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68422	68113681	39235859	14323	16469											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	1177					4.26978e-12	4.57227e-12	1	1	0	A	68157882	C	A	68157882	3	1	22	1	0	0	0	0	1	0	0	0	13242	912	32	2	543	2	RDH11	14	68157882	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44201	68157882	39191658	14324	16470											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													158	807					0	0	1	0	0	G	68159251	T	G	68159251	3	3	22	1	0	0	0	0	1	0	0	0	13242	1435	50	3	723	3	RDH11	14	68159251	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1369	68159251	39190289	14325	16471											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	148					2.44723e-14	2.65813e-14	1	1	0	T	68229498	G	T	68229498	3	4	22	1	0	0	0	0	1	0	0	0	17726	971	34	2	1609	2	ZFYVE26	14	68229498	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70247	68229498	39120042	14326	16472	103	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	139					0	0	1	0	0	G	68229501	A	G	68229501	3	3	22	1	0	0	0	0	1	0	0	0	17726	43	2	3	1612	3	ZFYVE26	14	68229501	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3	68229501	39120039	14327	16473	103	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	130					0	0	1	0	0	C	68271970	T	C	68271970	3	2	22	1	0	0	0	0	1	0	0	0	17726	1696	59	3	6524	3	ZFYVE26	14	68271970	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42469	68271970	39077570	14328	16474											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438964.2_Missense_Mutation_p.P295L|ACTN1_ENST00000538545.2_Missense_Mutation_p.P295L|ACTN1_ENST00000394419.4_Missense_Mutation_p.P295L|ACTN1_ENST00000376839.3_Missense_Mutation_p.P230L	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													79	381					0	0	1	0	0	A	69358972	G	A	69358972	3	1	22	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	14329	16475											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556847.1_Missense_Mutation_p.I578M|DCAF5_ENST00000554215.1_Missense_Mutation_p.I578M|DCAF5_ENST00000557386.1_Missense_Mutation_p.I659M	NM_003861.2	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													80	353					0	0	1	0	0	C	69521423	A	C	69521423	3	2	22	1	0	0	0	0	1	0	0	0	4297	10	1	3	852	3	DCAF5	14	69521423	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	162451	69521423	37828117	14330	16476											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409018.3_Missense_Mutation_p.A127T|EXD2_ENST00000449989.1_Missense_Mutation_p.A2T|EXD2_ENST00000312994.5_Missense_Mutation_p.A127T|EXD2_ENST00000409949.1_Missense_Mutation_p.A2T|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409242.1_Missense_Mutation_p.A2T|EXD2_ENST00000409675.1_Missense_Mutation_p.A2T	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													18	186					0	0	1	0	0	A	69695578	G	A	69695578	3	1	22	1	0	0	0	0	1	0	0	0	5325	1203	42	2	6	2	EXD2	14	69695578	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174155	69695578	37653962	14331	16477											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557046.1_Missense_Mutation_p.M200I|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000336643.5_Missense_Mutation_p.M223I|SLC39A9_ENST00000556605.1_Missense_Mutation_p.M223I			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													96	401					1.45819e-31	1.71742e-31	1	1	0	T	69922559	G	T	69922559	3	4	22	1	0	0	0	0	1	0	0	0	14680	1348	47	2	691	2	SLC39A9	14	69922559	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	226981	69922559	37426981	14332	16478											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	296					0	0	1	0	0	A	70252828	G	A	70252828	3	1	22	1	0	0	0	0	1	0	0	0	14428	1087	38	1	512	1	SLC10A1	14	70252828	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	330269	70252828	37096712	14333	16479											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	367					4.03997e-35	4.81766e-35	1	1	0	T	70252875	G	T	70252875	3	4	22	1	0	0	0	0	1	0	0	0	14428	1000	35	2	559	2	SLC10A1	14	70252875	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47	70252875	37096665	14334	16480											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	62					0	0	1	0	0	A	70346414	G	A	70346414	3	1	22	1	0	0	0	0	1	0	0	0	14855	1087	38	1	21	1	SMOC1	14	70346414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93539	70346414	37003126	14335	16481											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356921.2_Missense_Mutation_p.D445N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.D445N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.D445N|SLC8A3_ENST00000528359.1_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													187	742					0	0	1	0	0	T	70633807	C	T	70633807	3	4	22	1	0	0	0	0	1	0	0	0	14763	826	29	2	1589	2	SLC8A3	14	70633807	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	287393	70633807	36715733	14336	16482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	409					0	0	1	0	0	A	70924986	G	A	70924986	3	1	22	1	0	0	0	0	1	0	0	0	242	1174	41	2	772	2	ADAM21	14	70924986	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	291179	70924986	36424554	14337	16483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	349					0	0	1	0	0	T	70926319	C	T	70926319	2	4	22	1	0	0	0	0	0	0	0	1	242	871	31	1		1	ADAM21	14	70926319	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1333	70926319	36423221	14338	16484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	286					0	0	1	0	0	G	70991330	T	G	70991330	3	3	22	1	0	0	0	0	1	0	0	0	241	1435	50	3	2039	3	ADAM20	14	70991330	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	65011	70991330	36358210	14339	16485											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	54					0	0	1	0	0	T	71109141	C	T	71109141	3	4	22	1	0	0	0	0	1	0	0	0	16777	759	27	1	297	1	TTC9	14	71109141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117811	71109141	36240399	14340	16486											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	185					2.56175e-15	2.79687e-15	1	1	0	A	71134289	C	A	71134289	3	1	22	1	0	0	0	0	1	0	0	0	16777	797	28	2	421	2	TTC9	14	71134289	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25148	71134289	36215251	14341	16487											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553414.1_Missense_Mutation_p.R147W|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R453W|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R453W			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													40	206					0	0	1	0	0	A	71209278	G	A	71209278	3	1	22	1	0	0	0	0	1	0	0	0	9307	1086	38	1	2031	1	MAP3K9	14	71209278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74989	71209278	36140262	14342	16488											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000555993.2_Silent_p.E221E|MAP3K9_ENST00000381250.4_Silent_p.E221E			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													52	323					0	0	1	0	0	T	71267541	C	T	71267541	2	4	22	1	0	0	0	0	0	0	0	1	9307	564	20	2		2	MAP3K9	14	71267541	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58263	71267541	36081999	14343	16489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000555993.2_Missense_Mutation_p.R160C|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R160C			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													94	383					0	0	1	0	0	A	71267726	G	A	71267726	3	1	22	1	0	0	0	0	1	0	0	0	9307	1058	37	1	2926	1	MAP3K9	14	71267726	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	185	71267726	36081814	14344	16490											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	548					0	0	1	0	0	T	71540352	C	T	71540352	3	4	22	1	0	0	0	0	1	0	0	0	11638	681	24	2	5049	2	PCNX	14	71540352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	272626	71540352	35809188	14345	16491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	363					0.010729	0.0107869	1	1	0	A	71543085	C	A	71543085	3	1	22	1	0	0	0	0	1	0	0	0	11638	912	32	2	5396	2	PCNX	14	71543085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2733	71543085	35806455	14346	16492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000238570.5_Missense_Mutation_p.A2141V|PCNX_ENST00000439984.3_Missense_Mutation_p.A2102V|PCNX_ENST00000556272.1_3'UTR	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													37	401					0	0	1	0	0	T	71575657	C	T	71575657	3	4	22	1	0	0	0	0	1	0	0	0	11638	768	27	1	6772	1	PCNX	14	71575657	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32572	71575657	35773883	14347	16493											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537413.1_Missense_Mutation_p.S6F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S531F	NM_015556.1	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													57	286					0	0	1	0	0	T	72085567	C	T	72085567	3	4	22	1	0	0	0	0	1	0	0	0	14384	913	32	2	1598	2	SIPA1L1	14	72085567	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	509910	72085567	35263973	14348	16494											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537413.1_Missense_Mutation_p.A64T|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.A589T	NM_015556.1	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													75	368					0	0	1	0	0	A	72090900	G	A	72090900	3	1	22	1	0	0	0	0	1	0	0	0	14384	1203	42	2	1775	2	SIPA1L1	14	72090900	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5333	72090900	35258640	14349	16495											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537413.1_Nonsense_Mutation_p.R538*|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.R1063*	NM_015556.1	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													107	460					0	0	1	0	0	T	72152161	C	T	72152161	4	4	22	1	0	0	0	0	0	1	0	0	14384	644	23	1	3221	1	SIPA1L1	14	72152161	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61261	72152161	35197379	14350	16496											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537413.1_Missense_Mutation_p.E648K|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E1173K	NM_015556.1	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													59	265					0	0	1	0	0	A	72165840	G	A	72165840	3	1	22	1	0	0	0	0	1	0	0	0	14384	1059	37	1	3555	1	SIPA1L1	14	72165840	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13679	72165840	35183700	14351	16497											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537413.1_Missense_Mutation_p.D1185Y|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D1710Y	NM_015556.1	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													37	211					2.32173e-10	2.46079e-10	1	1	0	T	72204965	G	T	72204965	3	4	22	1	0	0	0	0	1	0	0	0	14384	942	33	2	5272	2	SIPA1L1	14	72204965	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39125	72204965	35144575	14352	16498											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	280					0	0	1	0	0	G	73159903	T	G	73159903	3	3	22	1	0	0	0	0	1	0	0	0	4745	1609	56	3	462	3	DPF3	14	73159903	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	954938	73159903	34189637	14353	16499											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358377.2_Missense_Mutation_p.L207M|DCAF4_ENST00000353777.3_Missense_Mutation_p.L146M|DCAF4_ENST00000555042.1_Missense_Mutation_p.L207M|DCAF4_ENST00000394234.2_Missense_Mutation_p.L107M|DCAF4_ENST00000509153.1_Missense_Mutation_p.L146M			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													194	844					5.41999e-79	6.92577e-79	1	1	0	A	73412676	C	A	73412676	3	1	22	1	0	0	0	0	1	0	0	0	4294	912	32	2	641	2	DCAF4	14	73412676	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	252773	73412676	33936864	14354	16500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	132					0	0	1	0	0	A	73570180	G	A	73570180	3	1	22	1	0	0	0	0	1	0	0	0	13177	1058	37	1	1182	1	RBM25	14	73570180	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157504	73570180	33779360	14355	16501											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357710.4_Missense_Mutation_p.S309F|PSEN1_ENST00000261970.3_Missense_Mutation_p.S313F|PSEN1_ENST00000344094.3_Missense_Mutation_p.S313F|PSEN1_ENST00000406768.1_Missense_Mutation_p.S221F|PSEN1_ENST00000394164.1_Missense_Mutation_p.S309F|PSEN1_ENST00000557511.1_Missense_Mutation_p.S313F	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													56	213					0	0	1	0	0	T	73673163	C	T	73673163	3	4	22	1	0	0	0	0	1	0	0	0	12699	855	30	2	964	2	PSEN1	14	73673163	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102983	73673163	33676377	14356	16502											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000554301.1_Silent_p.N420N|PAPLN_ENST00000340738.5_Silent_p.N393N			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													19	200					0	0	1	0	0	T	73720627	C	T	73720627	2	4	22	1	0	0	0	0	0	0	0	1	11475	506	18	2		2	PAPLN	14	73720627	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47464	73720627	33628913	14357	16503											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000554301.1_Silent_p.A462A|PAPLN_ENST00000340738.5_Silent_p.A435A			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													127	609					0	0	1	0	0	A	73721304	G	A	73721304	2	1	22	1	0	0	0	0	0	0	0	1	11475	1132	40	1		1	PAPLN	14	73721304	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	677	73721304	33628236	14358	16504											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000554301.1_Silent_p.L857L|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000340738.5_Silent_p.L830L			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													9	60					1.12685e-05	1.15515e-05	1	1	0	A	73729383	C	A	73729383	2	1	22	1	0	0	0	0	0	0	0	1	11475	900	32	2		2	PAPLN	14	73729383	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8079	73729383	33620157	14359	16505											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000554301.1_Silent_p.G974G|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000340738.5_Silent_p.G947G			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													63	403					0	0	1	0	0	T	73730979	C	T	73730979	2	4	22	1	0	0	0	0	0	0	0	1	11475	697	25	2		2	PAPLN	14	73730979	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1596	73730979	33618561	14360	16506											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000554301.1_Missense_Mutation_p.R1101Q|PAPLN_ENST00000340738.5_Missense_Mutation_p.R1074Q			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													6	190					0	0	1	0	0	A	73733247	G	A	73733247	3	1	22	1	0	0	0	0	1	0	0	0	11475	1058	37	1	3307	1	PAPLN	14	73733247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2268	73733247	33616293	14361	16507											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000560393.1_Missense_Mutation_p.A681V|HEATR4_ENST00000334988.2_Missense_Mutation_p.A728V	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													73	301					0	0	1	0	0	A	73967357	G	A	73967357	3	1	22	1	0	0	0	0	1	0	0	0	7071	1203	42	2	925	2	HEATR4	14	73967357	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234110	73967357	33382183	14362	16508											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000560393.1_Missense_Mutation_p.K236N|HEATR4_ENST00000334988.2_Missense_Mutation_p.K283N	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													128	625					9.30381e-49	1.14909e-48	1	1	0	A	73989008	C	A	73989008	3	1	22	1	0	0	0	0	1	0	0	0	7071	912	32	2	2295	2	HEATR4	14	73989008	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21651	73989008	33360532	14363	16509											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	309					0	0	1	0	0	A	74433689	G	A	74433689	3	1	22	1	0	0	0	0	1	0	0	0	5170	1145	40	1	61	1	ENTPD5	14	74433689	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	444681	74433689	32915851	14364	16510											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.R101C|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													55	260					0	0	1	0	0	A	74538953	G	A	74538953	3	1	22	1	0	0	0	0	1	0	0	0	500	1116	39	1	1342	1	ALDH6A1	14	74538953	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105264	74538953	32810587	14365	16511											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000298818.8_3'UTR|ISCA2_ENST00000554924.1_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													68	402					0	0	1	0	0	T	74961670	C	T	74961670	2	4	22	1	0	0	0	0	0	0	0	1	7895	805	28	2		2	ISCA2	14	74961670	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	422717	74961670	32387870	14366	16512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	436					0	0	1	0	0	A	74971732	G	A	74971732	2	1	22	1	0	0	0	0	0	0	0	1	9119	1074	38	1		1	LTBP2	14	74971732	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10062	74971732	32377808	14367	16513											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	334					0	0	1	0	0	T	74975656	C	T	74975656	5	4	22	1	0	0	0	0	0	0	1	0	9119	927	32	2	2118	2	LTBP2	14	74975656	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3924	74975656	32373884	14368	16514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000552421.1_Missense_Mutation_p.M1087I|YLPM1_ENST00000238571.3_Missense_Mutation_p.M1598I	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													6	106					0	0	1	0	0	A	75279362	G	A	75279362	3	1	22	1	0	0	0	0	1	0	0	0	17546	1319	46	2	5421	2	YLPM1	14	75279362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	303706	75279362	32070178	14369	16515											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000552421.1_Missense_Mutation_p.R1294H|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1765H	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													10	43					0	0	1	0	0	A	75284986	G	A	75284986	3	1	22	1	0	0	0	0	1	0	0	0	17546	1145	40	1	6061	1	YLPM1	14	75284986	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5624	75284986	32064554	14370	16516											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.A410S|MLH3_ENST00000556740.1_Missense_Mutation_p.A410S|MLH3_ENST00000556257.1_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)					9	280					0.010729	0.0107869	1	1	0	A	75515131	C	A	75515131	3	1	22	1	0	0	0	0	1	0	0	0	9666	797	28	2	3181	2	MLH3	14	75515131	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	230145	75515131	31834409	14371	16517											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	189					0	0	1	0	0	A	75567812	G	A	75567812	2	1	22	1	0	0	0	0	0	0	0	1	10378	962	34	2		2	NEK9	14	75567812	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52681	75567812	31781728	14372	16518											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	213					0	0	1	0	0	C	75618848	T	C	75618848	5	2	22	1	0	0	0	0	0	0	1	0	16063	1536	53	3	451	3	TMED10	14	75618848	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	51036	75618848	31730692	14373	16519											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													127	403					0	0	1	0	0	A	75643079	G	A	75643079	2	1	22	1	0	0	0	0	0	0	0	1	16063	1074	38	1		1	TMED10	14	75643079	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24231	75643079	31706461	14374	16520											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000555504.1_Intron|BATF_ENST00000555795.1_3'UTR	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													20	230					0	0	1	0	0	T	76012831	C	T	76012831	2	4	22	1	0	0	0	0	0	0	0	1	1323	535	19	1		1	BATF	14	76012831	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	369752	76012831	31336709	14375	16521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539311.1_Silent_p.E294E|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000555027.1_Silent_p.E214E|FLVCR2_ENST00000556241.1_Intron	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													86	379					0	0	1	0	0	G	76108229	A	G	76108229	2	3	22	1	0	0	0	0	0	0	0	1	5979	11	1	3		3	FLVCR2	14	76108229	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	95398	76108229	31241311	14376	16522											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556977.1_Missense_Mutation_p.W32R|TTLL5_ENST00000557636.1_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													26	569					0	0	1	0	0	C	76135778	T	C	76135778	3	2	22	1	0	0	0	0	1	0	0	0	16792	1696	59	3	100	3	TTLL5	14	76135778	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27549	76135778	31213762	14377	16523											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556893.1_Missense_Mutation_p.R105C|TTLL5_ENST00000554510.1_Missense_Mutation_p.R63C|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													69	307					0	0	1	0	0	T	76231067	C	T	76231067	3	4	22	1	0	0	0	0	1	0	0	0	16792	536	19	1	1730	1	TTLL5	14	76231067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95289	76231067	31118473	14378	16524											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556893.1_Nonsense_Mutation_p.E411*|TTLL5_ENST00000554510.1_Nonsense_Mutation_p.E369*|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													43	191					3.21987e-24	3.67739e-24	1	1	0	T	76248892	G	T	76248892	4	4	22	1	0	0	0	0	0	1	0	0	16792	943	33	2	2672	2	TTLL5	14	76248892	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17825	76248892	31100648	14379	16525											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_De_novo_Start_InFrame|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													34	724					0	0	1	0	0	A	76905684	G	A	76905684	1	1	22	1	0	0	0	0	0	0	0	0	5289	1217	42	2		2	ESRRB	14	76905684	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	656792	76905684	30443856	14380	16526											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Silent_p.D4D|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													116	609					0	0	1	0	0	T	76905708	C	T	76905708	2	4	22	1	0	0	0	0	0	0	0	1	5289	535	19	1		1	ESRRB	14	76905708	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24	76905708	30443832	14381	16527											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000555611.1_Silent_p.S60S|KIAA1737_ENST00000555437.1_Intron|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													84	348					0	0	1	0	0	T	77576198	C	T	77576198	2	4	22	1	0	0	0	0	0	0	0	1	8297	639	23	1		1	KIAA1737	14	77576198	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	670490	77576198	29773342	14382	16528											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	232					0	0	1	0	0	A	77580103	G	A	77580103	2	1	22	1	0	0	0	0	0	0	0	1	8297	1074	38	1		1	KIAA1737	14	77580103	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3905	77580103	29769437	14383	16529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	72					0	0	1	0	0	A	77605761	G	A	77605761	2	1	22	1	0	0	0	0	0	0	0	1	17671	1136	40	1		1	ZDHHC22	14	77605761	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25658	77605761	29743779	14384	16530											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	7	45					0	0	1	0	0	C	77606018	T	C	77606018	3	2	22	1	0	0	0	0	1	0	0	0	17671	1667	58	3	735	3	ZDHHC22	14	77606018	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	257	77606018	29743522	14385	16531											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	108					0	0	1	0	0	A	77787020	G	A	77787020	3	1	22	1	0	0	0	0	1	0	0	0	12294	1116	39	1	2331	1	POMT2	14	77787020	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181002	77787020	29562520	14386	16532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													119	601					0	0	1	0	0	A	77810118	G	A	77810118	4	1	22	1	0	0	0	0	0	1	0	0	16071	1357	47	2	612	2	TMED8	14	77810118	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23098	77810118	29539422	14387	16533											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	371					0	0	1	0	0	T	77812773	C	T	77812773	2	4	22	1	0	0	0	0	0	0	0	1	16071	842	30	2		2	TMED8	14	77812773	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2655	77812773	29536767	14388	16534											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000493585.1_3'UTR|ISM2_ENST00000342219.4_Missense_Mutation_p.R462H|ISM2_ENST00000412904.1_Missense_Mutation_p.R381H|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													9	241					0	0	1	0	0	T	77942269	C	T	77942269	3	4	22	1	0	0	0	0	1	0	0	0	7905	768	27	1	334	1	ISM2	14	77942269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129496	77942269	29407271	14389	16535											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000493585.1_3'UTR|ISM2_ENST00000342219.4_Missense_Mutation_p.S440N|ISM2_ENST00000412904.1_Missense_Mutation_p.S359N|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													69	254					0	0	1	0	0	T	77942335	C	T	77942335	3	4	22	1	0	0	0	0	1	0	0	0	7905	797	28	2	400	2	ISM2	14	77942335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66	77942335	29407205	14390	16536											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	191					0	0	1	0	0	T	78063618	C	T	78063618	3	4	22	1	0	0	0	0	1	0	0	0	15180	536	19	1	1494	1	SPTLC2	14	78063618	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121283	78063618	29285922	14391	16537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	292					0	0	1	0	0	T	78142126	C	T	78142126	3	4	22	1	0	0	0	0	1	0	0	0	522	768	27	1	564	1	ALKBH1	14	78142126	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78508	78142126	29207414	14392	16538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000554775.1_Silent_p.A187A|SNW1_ENST00000555761.1_Silent_p.A349A	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													89	395					0	0	1	0	0	C	78189607	T	C	78189607	2	2	22	1	0	0	0	0	0	0	0	1	14933	1683	59	3		3	SNW1	14	78189607	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47481	78189607	29159933	14393	16539											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000554775.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.A20D	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													25	142					2.14196e-07	2.22428e-07	1	1	0	T	78221419	G	T	78221419	3	4	22	1	0	0	0	0	1	0	0	0	14933	971	34	2	1603	2	SNW1	14	78221419	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31812	78221419	29128121	14394	16540											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	517					0	0	1	0	0	A	78365490	G	A	78365490	3	1	22	1	0	0	0	0	1	0	0	0	287	1377	48	2	648	2	ADCK1	14	78365490	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144071	78365490	28984050	14395	16541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	303					3.89499e-28	4.52561e-28	1	1	0	T	78390815	G	T	78390815	3	4	22	1	0	0	0	0	1	0	0	0	287	1232	43	2	900	2	ADCK1	14	78390815	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25325	78390815	28958725	14396	16542											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													158	731					0	0	1	0	0	A	78392209	G	A	78392209	3	1	22	1	0	0	0	0	1	0	0	0	287	1116	39	1	1141	1	ADCK1	14	78392209	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1394	78392209	28957331	14397	16543											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	319					0	0	1	0	0	A	79175616	G	A	79175616	2	1	22	1	0	0	0	0	0	0	0	1	10715	1103	39	1		1	NRXN3	14	79175616	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	783407	79175616	28173924	14398	16544											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	324					0	0	1	0	0	A	79175641	G	A	79175641	3	1	22	1	0	0	0	0	1	0	0	0	10715	1059	37	1	190	1	NRXN3	14	79175641	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25	79175641	28173899	14399	16545											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	239					0	0	1	0	0	A	79433613	G	A	79433613	3	1	22	1	0	0	0	0	1	0	0	0	10715	1087	38	1	1751	1	NRXN3	14	79433613	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	257972	79433613	27915927	14400	16546											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	461					0	0	1	0	0	C	79454462	T	C	79454462	2	2	22	1	0	0	0	0	0	0	0	1	10715	1500	52	3		3	NRXN3	14	79454462	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20849	79454462	27895078	14401	16547											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	NRXN3_ENST00000281127.7_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000557594.1_Intron|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000554719.1_Intron|RP11-242P2.1_ENST00000553322.1_RNA	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													30	114					0	0	1	0	0	A	80158534	G	A	80158534	3	1	22	1	0	0	0	0	1	0	0	0	10715	1087	38	1	2817	1	NRXN3	14	80158534	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	704072	80158534	27191006	14402	16548											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.R214H|DIO2_ENST00000557125.1_3'UTR|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)	63	311					0	0	1	0	0	T	80669213	C	T	80669213	3	4	22	1	0	0	0	0	1	0	0	0	4553	768	27	1	184	1	DIO2	14	80669213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	510679	80669213	26680327	14403	16549											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Silent_p.P205P|DIO2_ENST00000557125.1_3'UTR|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)	30	328					0	0	1	0	0	T	80669239	C	T	80669239	2	4	22	1	0	0	0	0	0	0	0	1	4553	755	27	1		1	DIO2	14	80669239	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26	80669239	26680301	14404	16550											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81554371C>A	ENST00000541158.2	+	5	713	c.392_splice	c.e5+1	p.L131_splice	TSHR_ENST00000554435.1_Splice_Site_p.L131_splice|TSHR_ENST00000554263.1_Splice_Site_p.L131_splice|TSHR_ENST00000342443.6_Splice_Site_p.L131_splice|TSHR_ENST00000298171.2_Splice_Site_p.L131_splice			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						55	224					7.89702e-26	9.07718e-26	1	1	0	A	81554371	C	A	81554371	5	1	22	1	0	0	0	0	0	0	1	0	16683	695	24	2	405	2	TSHR	14	81554371	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	885132	81554371	25795169	14405	16551											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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						86	407					0	0	1	0	0	T	81609439	C	T	81609439	3	4	22	1	0	0	0	0	1	0	0	0	16683	565	20	2	1212	2	TSHR	14	81609439	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55068	81609439	25740101	14406	16552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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						85	295					0	0	1	0	0	A	81609861	G	A	81609861	3	1	22	1	0	0	0	0	1	0	0	0	16683	1058	37	1	1634	1	TSHR	14	81609861	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	422	81609861	25739679	14407	16553											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	292					8.4185e-14	9.11178e-14	1	1	0	T	81862432	G	T	81862432	3	4	22	1	0	0	0	0	1	0	0	0	15374	942	33	2	2552	2	STON2	14	81862432	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	252571	81862432	25487108	14408	16554											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	379					0	0	1	0	0	T	86088565	C	T	86088565	3	4	22	1	0	0	0	0	1	0	0	0	5972	838	29	2	709	2	FLRT2	14	86088565	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4226133	86088565	21260975	14409	16555											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	548					0	0	1	0	0	T	86089311	C	T	86089311	3	4	22	1	0	0	0	0	1	0	0	0	5972	739	26	2	1455	2	FLRT2	14	86089311	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	746	86089311	21260229	14410	16556											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544807.2_Missense_Mutation_p.G468D|GALC_ENST00000393568.4_Missense_Mutation_p.G501D|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													11	520					0	0	1	0	0	T	88411996	C	T	88411996	3	4	22	1	0	0	0	0	1	0	0	0	6241	739	26	2	502	2	GALC	14	88411996	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2322685	88411996	18937544	14411	16557											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	702					0	0	1	0	0	C	88477387	A	C	88477387	3	2	22	1	0	0	0	0	1	0	0	0	6746	43	2	3	198	3	GPR65	14	88477387	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65391	88477387	18872153	14412	16558											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	375					0	0	1	0	0	T	88652276	C	T	88652276	3	4	22	1	0	0	0	0	1	0	0	0	8103	768	27	1	400	1	KCNK10	14	88652276	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174889	88652276	18697264	14413	16559											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	565					0	0	1	0	0	A	88654372	G	A	88654372	3	1	22	1	0	0	0	0	1	0	0	0	8103	1319	46	2	689	2	KCNK10	14	88654372	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2096	88654372	18695168	14414	16560											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	464					0	0	1	0	0	T	88658693	C	T	88658693	3	4	22	1	0	0	0	0	1	0	0	0	8103	739	26	2	900	2	KCNK10	14	88658693	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4321	88658693	18690847	14415	16561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356583.5_Silent_p.D497D|SPATA7_ENST00000045347.7_Intron|SPATA7_ENST00000393545.4_Silent_p.D529D			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													50	319					0	0	1	0	0	T	88904553	C	T	88904553	2	4	22	1	0	0	0	0	0	0	0	1	15070	477	17	2		2	SPATA7	14	88904553	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	245860	88904553	18444987	14416	16562											
PTPN21	11099	broad.mit.edu	37	chr14	88945628	88945630	+	In_Frame_Del	DEL	TCC	TCC	-													tctcctcctcgaagtcctcgTcctcctcctcctcgctgctg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88945628_88945630delTCC	ENST00000556564.1	-	13	2429_2431	c.2145_2147delGGA	c.(2143-2148)gac>ga	p.ED717del	PTPN21_ENST00000328736.3_In_Frame_Del_p.ED717del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	717	Poly-Glu.					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						GAAGTCCTCGTCCTCCTCCTCCT	0.704													8	310	---	---	---	---						-	88945630	TCC	-	88945628	7	5	22	1	0	1	0	1	0	0	0	0	12838	1667	58	0	1405	0	PTPN21	14	88945628	In_Frame_Del	DEL	TCC	TCGA-IB-7651-01A-11D-2154-08	41075	88945628	18403912	14417	16563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	417					0	0	1	0	0	T	88946237	C	T	88946237	3	4	22	1	0	0	0	0	1	0	0	0	12838	797	28	2	2014	2	PTPN21	14	88946237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	609	88946237	18403303	14418	16564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000328736.3_Missense_Mutation_p.S109Y|PTPN21_ENST00000554628.1_5'UTR	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													63	275					7.73544e-29	9.01949e-29	1	1	0	T	88983460	G	T	88983460	3	4	22	1	0	0	0	0	1	0	0	0	12838	942	33	2	3266	2	PTPN21	14	88983460	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37223	88983460	18366080	14419	16565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000328736.3_Missense_Mutation_p.V105A|PTPN21_ENST00000554628.1_5'UTR	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													64	284					0	0	1	0	0	G	88983472	A	G	88983472	3	3	22	1	0	0	0	0	1	0	0	0	12838	159	6	3	3278	3	PTPN21	14	88983472	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12	88983472	18366068	14420	16566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557607.1_5'UTR|ZC3H14_ENST00000336693.4_Silent_p.S87S|ZC3H14_ENST00000555755.1_Silent_p.S121S|ZC3H14_ENST00000302216.8_Silent_p.S121S|ZC3H14_ENST00000556945.1_Silent_p.S121S|ZC3H14_ENST00000393514.5_Silent_p.S121S|ZC3H14_ENST00000359301.3_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													83	340					0	0	1	0	0	T	89038501	C	T	89038501	2	4	22	1	0	0	0	0	0	0	0	1	17625	767	27	1		1	ZC3H14	14	89038501	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55029	89038501	18311039	14421	16567											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557607.1_Missense_Mutation_p.S85N|ZC3H14_ENST00000336693.4_Missense_Mutation_p.S206N|ZC3H14_ENST00000555755.1_Missense_Mutation_p.S240N|ZC3H14_ENST00000302216.8_Missense_Mutation_p.S240N|ZC3H14_ENST00000556945.1_Missense_Mutation_p.S240N|ZC3H14_ENST00000393514.5_Missense_Mutation_p.S240N|ZC3H14_ENST00000359301.3_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													94	427					0	0	1	0	0	A	89039209	G	A	89039209	3	1	22	1	0	0	0	0	1	0	0	0	17625	1029	36	2	741	2	ZC3H14	14	89039209	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	708	89039209	18310331	14422	16568											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557607.1_Missense_Mutation_p.N270S|ZC3H14_ENST00000336693.4_Missense_Mutation_p.N391S|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000555755.1_Missense_Mutation_p.N425S|ZC3H14_ENST00000302216.8_Missense_Mutation_p.N425S|ZC3H14_ENST00000556945.1_Missense_Mutation_p.N425S|ZC3H14_ENST00000393514.5_Missense_Mutation_p.N425S|ZC3H14_ENST00000359301.3_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													55	257					0	0	1	0	0	G	89044479	A	G	89044479	3	3	22	1	0	0	0	0	1	0	0	0	17625	101	4	3	1308	3	ZC3H14	14	89044479	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5270	89044479	18305061	14423	16569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352093.5_Missense_Mutation_p.G1863E|EML5_ENST00000380664.5_Missense_Mutation_p.G1901E	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													49	185					0	0	1	0	0	T	89083140	C	T	89083140	3	4	22	1	0	0	0	0	1	0	0	0	5128	855	30	2	219	2	EML5	14	89083140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38661	89083140	18266400	14424	16570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	205					0	0	1	0	0	A	89171223	G	A	89171223	4	1	22	1	0	0	0	0	0	1	0	0	5128	1066	37	1	4025	1	EML5	14	89171223	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88083	89171223	18178317	14425	16571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000345383.5_Intron|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000338104.6_Intron|TTC8_ENST00000536576.1_Intron|TTC8_ENST00000346301.4_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													38	235					0	0	1	0	0	A	89300058	G	A	89300058	3	1	22	1	0	0	0	0	1	0	0	0	16776	1029	36	2	142	2	TTC8	14	89300058	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128835	89300058	18049482	14426	16572											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000345383.5_Missense_Mutation_p.R133S|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000346301.4_Missense_Mutation_p.R133S|TTC8_ENST00000380656.2_Missense_Mutation_p.R143S			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													29	317					0	0	1	0	0	C	89307480	A	C	89307480	3	2	22	1	0	0	0	0	1	0	0	0	16776	243	9	3	447	3	TTC8	14	89307480	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7422	89307480	18042060	14427	16573											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000345383.5_Missense_Mutation_p.D490G|TTC8_ENST00000354441.6_Missense_Mutation_p.D235G|TTC8_ENST00000536576.1_Missense_Mutation_p.D261G|TTC8_ENST00000346301.4_Missense_Mutation_p.D460G|TTC8_ENST00000380656.2_Missense_Mutation_p.D500G|TTC8_ENST00000358622.5_Missense_Mutation_p.D302G			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													7	345					0	0	1	0	0	G	89343705	A	G	89343705	3	3	22	1	0	0	0	0	1	0	0	0	16776	275	10	3	1557	3	TTC8	14	89343705	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36225	89343705	18005835	14428	16574											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					34	162					0	0	1	0	0	T	90485729	C	T	90485729	2	4	22	1	0	0	0	0	0	0	0	1	15787	547	19	1		1	TDP1	14	90485729	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1142024	90485729	16863811	14429	16575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	415					0	0	1	0	0	T	90650476	C	T	90650476	3	4	22	1	0	0	0	0	1	0	0	0	8105	768	27	1	362	1	KCNK13	14	90650476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	164747	90650476	16699064	14430	16576											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													146	744					8.66588e-61	1.0903e-60	1	1	0	A	90650750	C	A	90650750	4	1	22	1	0	0	0	0	0	1	0	0	8105	805	28	2	636	2	KCNK13	14	90650750	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	274	90650750	16698790	14431	16577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	359					0	0	1	0	0	T	90651173	C	T	90651173	2	4	22	1	0	0	0	0	0	0	0	1	8105	564	20	2		2	KCNK13	14	90651173	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423	90651173	16698367	14432	16578											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	487					0	0	1	0	0	A	90735847	G	A	90735847	3	1	22	1	0	0	0	0	1	0	0	0	12734	1203	42	2	1022	2	PSMC1	14	90735847	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84674	90735847	16613693	14433	16579											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	121					2.81731e-10	2.98404e-10	1	1	0	A	91044542	C	A	91044542	3	1	22	1	0	0	0	0	1	0	0	0	16775	710	25	2	321	2	TTC7B	14	91044542	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	308695	91044542	16304998	14434	16580											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	486					0	0	1	0	0	G	91211192	T	G	91211192	3	3	22	1	0	0	0	0	1	0	0	0	16775	1696	59	3	2079	3	TTC7B	14	91211192	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	166650	91211192	16138348	14435	16581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	349					0	0	1	0	0	T	91338562	C	T	91338562	2	4	22	1	0	0	0	0	0	0	0	1	13706	755	27	1		1	RPS6KA5	14	91338562	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127370	91338562	16010978	14436	16582											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536315.2_Missense_Mutation_p.R464M|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R543M	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													22	420					1.5548e-18	1.72663e-18	1	1	0	A	91360773	C	A	91360773	3	1	22	1	0	0	0	0	1	0	0	0	13706	681	24	2	806	2	RPS6KA5	14	91360773	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22211	91360773	15988767	14437	16583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	58					0	0	1	0	0	T	91526692	C	T	91526692	2	4	22	1	0	0	0	0	0	0	0	1	13706	796	28	2		2	RPS6KA5	14	91526692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	165919	91526692	15822848	14438	16584											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	112					0.000673444	0.000681208	1	1	0	A	91749816	C	A	91749816	3	1	22	1	0	0	0	0	1	0	0	0	2885	797	28	2	1619	2	CCDC88C	14	91749816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	223124	91749816	15599724	14439	16585											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													198	960					3.54725e-78	4.52998e-78	1	1	0	T	91755667	G	T	91755667	3	4	22	1	0	0	0	0	1	0	0	0	2885	1203	42	2	1887	2	CCDC88C	14	91755667	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5851	91755667	15593873	14440	16586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	18					8.12818e-05	8.2724e-05	1	1	0	T	91763825	G	T	91763825	3	4	22	1	0	0	0	0	1	0	0	0	2885	991	35	2	2332	2	CCDC88C	14	91763825	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8158	91763825	15585715	14441	16587											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	58					0	0	1	0	0	T	91766410	C	T	91766410	3	4	22	1	0	0	0	0	1	0	0	0	2885	652	23	1	2486	1	CCDC88C	14	91766410	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2585	91766410	15583130	14442	16588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	374					0	0	1	0	0	T	91770280	C	T	91770280	3	4	22	1	0	0	0	0	1	0	0	0	2885	768	27	1	2730	1	CCDC88C	14	91770280	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3870	91770280	15579260	14443	16589											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	237					0	0	1	0	0	T	91774720	C	T	91774720	3	4	22	1	0	0	0	0	1	0	0	0	2885	768	27	1	3161	1	CCDC88C	14	91774720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4440	91774720	15574820	14444	16590											
CCDC88C	440193	broad.mit.edu	37	chr14	91779704	91779704	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgctccagggccttcctgTccttctcggccccctccaac	7	21	1	0	rs61743881		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91779704T>C	ENST00000389857.6	-	15	2542	c.2456A>G	c.(2455-2457)gAc>gGc	p.D819G		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	819					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)				GGCCTTCCTGTCCTTCTCGGC	0.667													7	282					0	0	1	0	0	C	91779704	T	C	91779704	3	2	22	1	0	0	0	0	1	0	0	0	2885	1667	58	3	3694	3	CCDC88C	14	91779704	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4984	91779704	15569836	14445	16591											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	180					0	0	1	0	0	A	91780320	G	A	91780320	3	1	22	1	0	0	0	0	1	0	0	0	2885	1086	38	1	4310	1	CCDC88C	14	91780320	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	616	91780320	15569220	14446	16592											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	220					0	0	1	0	0	A	91804434	G	A	91804434	3	1	22	1	0	0	0	0	1	0	0	0	2885	1087	38	1	5205	1	CCDC88C	14	91804434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24114	91804434	15545106	14447	16593											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	123					0	0	1	0	0	A	91805638	G	A	91805638	3	1	22	1	0	0	0	0	1	0	0	0	2885	1087	38	1	5385	1	CCDC88C	14	91805638	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1204	91805638	15543902	14448	16594											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428424.2_Nonsense_Mutation_p.Q412*|SMEK1_ENST00000337238.4_Nonsense_Mutation_p.Q638*|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000554943.1_Nonsense_Mutation_p.Q651*|SMEK1_ENST00000555462.1_Nonsense_Mutation_p.Q412*			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													33	365					0	0	1	0	0	A	91929101	G	A	91929101	4	1	22	1	0	0	0	0	0	1	0	0	14847	1328	46	2	566	2	SMEK1	14	91929101	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123463	91929101	15420439	14449	16595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428424.2_Missense_Mutation_p.R299W|SMEK1_ENST00000337238.4_Missense_Mutation_p.R525W|SMEK1_ENST00000554943.1_Missense_Mutation_p.R538W|SMEK1_ENST00000555462.1_Missense_Mutation_p.R299W			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													70	325					0	0	1	0	0	A	91937229	G	A	91937229	3	1	22	1	0	0	0	0	1	0	0	0	14847	1115	39	1	913	1	SMEK1	14	91937229	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8128	91937229	15412311	14450	16596											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	323					5.82388e-19	6.47979e-19	1	1	0	A	92159477	C	A	92159477	3	1	22	1	0	0	0	0	1	0	0	0	2709	797	28	2	2602	2	CATSPERB	14	92159477	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	222248	92159477	15190063	14451	16597											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360594.5_Missense_Mutation_p.E4K|TC2N_ENST00000340892.5_Missense_Mutation_p.E4K|TC2N_ENST00000556018.1_Missense_Mutation_p.E4K	NM_001128596.1	NP_001122068.1	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													11	89					0	0	1	0	0	T	92280104	C	T	92280104	3	4	22	1	0	0	0	0	1	0	0	0	15725	922	32	2	1506	2	TC2N	14	92280104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120627	92280104	15069436	14452	16598											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92347762T>G	ENST00000267620.10	-	10	1155	c.985_splice	c.e10-1	p.D329_splice	FBLN5_ENST00000556154.1_Splice_Site_p.D293_splice|FBLN5_ENST00000342058.4_Splice_Site_p.D288_splice			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													65	278					0	0	1	0	0	G	92347762	T	G	92347762	5	3	22	1	0	0	0	0	0	0	1	0	5733	1681	58	3	495	3	FBLN5	14	92347762	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	67658	92347762	15001778	14453	16599											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556154.1_Silent_p.G247G|FBLN5_ENST00000342058.4_Silent_p.G242G			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													129	676					0	0	1	0	0	A	92353550	G	A	92353550	2	1	22	1	0	0	0	0	0	0	0	1	5733	1074	38	1		1	FBLN5	14	92353550	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5788	92353550	14995990	14454	16600											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								41	213					0	0	1	0	0	A	92465608	G	A	92465608	3	1	22	1	0	0	0	0	1	0	0	0	16616	1174	41	2	1107	2	TRIP11	14	92465608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112058	92465608	14883932	14455	16601											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								81	358					0	0	1	0	0	C	92470112	T	C	92470112	3	2	22	1	0	0	0	0	1	0	0	0	16616	1435	50	3	1775	3	TRIP11	14	92470112	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4504	92470112	14879428	14456	16602											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	454					0	0	1	0	0	A	92588068	G	A	92588068	2	1	22	1	0	0	0	0	0	0	0	1	10325	1161	41	2		2	NDUFB1	14	92588068	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117956	92588068	14761472	14457	16603											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													140	622					0	0	1	0	0	A	92608558	G	A	92608558	3	1	22	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	14458	16604											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	273					0	0	1	0	0	G	92609433	A	G	92609433	3	3	22	1	0	0	0	0	1	0	0	0	3848	217	8	3	961	3	CPSF2	14	92609433	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	875	92609433	14740107	14459	16605											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	84					0	0	1	0	0	C	92620736	T	C	92620736	3	2	22	1	0	0	0	0	1	0	0	0	3848	1609	56	3	1205	3	CPSF2	14	92620736	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11303	92620736	14728804	14460	16606											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393265.2_Intron|SLC24A4_ENST00000531433.1_Missense_Mutation_p.S42R			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													22	117					7.92952e-12	8.47903e-12	1	1	0	A	92790300	C	A	92790300	3	1	22	1	0	0	0	0	1	0	0	0	14523	796	28	2	77	2	SLC24A4	14	92790300	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169564	92790300	14559240	14461	16607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393265.2_Missense_Mutation_p.R133H|SLC24A4_ENST00000531433.1_Missense_Mutation_p.R197H			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													48	200					0	0	1	0	0	A	92909751	G	A	92909751	3	1	22	1	0	0	0	0	1	0	0	0	14523	1145	40	1	565	1	SLC24A4	14	92909751	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119451	92909751	14439789	14462	16608											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	242					0	0	1	0	0	T	93118417	C	T	93118417	2	4	22	1	0	0	0	0	0	0	0	1	13425	776	27	1		1	RIN3	14	93118417	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208666	93118417	14231123	14463	16609											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	295					1.39806e-14	1.52044e-14	1	1	0	A	93119069	C	A	93119069	3	1	22	1	0	0	0	0	1	0	0	0	13425	796	28	2	1697	2	RIN3	14	93119069	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	652	93119069	14230471	14464	16610											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_005104.2	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								17	527					0	0	1	0	0	T	93282689	C	T	93282689	3	4	22	1	0	0	0	0	1	0	0	0	6598	875	31	1	1436	1	GOLGA5	14	93282689	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163620	93282689	14066851	14465	16611											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	86					0	0	1	0	0	A	93390551	G	A	93390551	2	1	22	1	0	0	0	0	0	0	0	1	3360	1074	38	1		1	CHGA	14	93390551	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107862	93390551	13958989	14466	16612											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	73					0	0	1	0	0	A	93399081	G	A	93399081	3	1	22	1	0	0	0	0	1	0	0	0	3360	1058	37	1	1201	1	CHGA	14	93399081	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8530	93399081	13950459	14467	16613											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	622					0	0	1	0	0	A	93712552	G	A	93712552	2	1	22	1	0	0	0	0	0	0	0	1	1549	1074	38	1		1	BTBD7	14	93712552	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	313471	93712552	13636988	14468	16614											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	404					0	0	1	0	0	A	93730244	G	A	93730244	4	1	22	1	0	0	0	0	0	1	0	0	1549	1124	39	1	2172	1	BTBD7	14	93730244	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17692	93730244	13619296	14469	16615											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	250					0	0	1	0	0	A	93814406	G	A	93814406	2	1	22	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	14470	16616											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	171					0	0	1	0	0	A	94187802	G	A	94187802	2	1	22	1	0	0	0	0	0	0	0	1	12544	1136	40	1		1	PRIMA1	14	94187802	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	373396	94187802	13161738	14471	16617											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557719.1_Silent_p.V202V|FAM181A_ENST00000556222.1_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													20	190					2.4624e-09	2.59004e-09	1	1	0	A	94395237	C	A	94395237	2	1	22	1	0	0	0	0	0	0	0	1	5539	900	32	2		2	FAM181A	14	94395237	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207435	94395237	12954303	14472	16618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	369					0	0	1	0	0	T	94417504	C	T	94417504	3	4	22	1	0	0	0	0	1	0	0	0	1022	768	27	1	1206	1	ASB2	14	94417504	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22267	94417504	12932036	14473	16619											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	244					0	0	1	0	0	T	94417571	C	T	94417571	2	4	22	1	0	0	0	0	0	0	0	1	1022	639	23	1		1	ASB2	14	94417571	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67	94417571	12931969	14474	16620											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	632					0	0	1	0	0	T	94419708	C	T	94419708	2	4	22	1	0	0	0	0	0	0	0	1	1022	755	27	1		1	ASB2	14	94419708	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2137	94419708	12929832	14475	16621											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													143	668					3.06621e-78	3.91588e-78	1	1	0	A	94526811	C	A	94526811	3	1	22	1	0	0	0	0	1	0	0	0	4374	739	26	2	1053	2	DDX24	14	94526811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107103	94526811	12822729	14476	16622											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	614					0	0	1	0	0	T	94545647	C	T	94545647	3	4	22	1	0	0	0	0	1	0	0	0	4374	507	18	2	2169	2	DDX24	14	94545647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18836	94545647	12803893	14477	16623											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553350.1_Intron|IFI27L1_ENST00000554562.1_Missense_Mutation_p.A43T|IFI27L1_ENST00000557066.1_Intron|IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000553664.1_Missense_Mutation_p.R65H|IFI27L1_ENST00000393115.3_Missense_Mutation_p.A43T			Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	43						integral to membrane				lung(2)	2						AGGAATCGCCGCATCCTCCAT	0.597													54	242					0	0	1	0	0	A	94568225	G	A	94568225	3	1	22	1	0	0	0	0	1	0	0	0	7557	1087	38	1	137	1	IFI27L1	14	94568225	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22578	94568225	12781315	14478	16624											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448882.1_Missense_Mutation_p.K69N|IFI27_ENST00000557098.1_Missense_Mutation_p.K21N|IFI27_ENST00000557634.1_Missense_Mutation_p.K56N|IFI27_ENST00000444961.1_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													11	60					1.08611e-07	1.12939e-07	1	1	0	T	94582203	G	T	94582203	3	4	22	1	0	0	0	0	1	0	0	0	7556	933	33	2	208	2	IFI27	14	94582203	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13978	94582203	12767337	14479	16625											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	200					0	0	1	0	0	A	94711935	T	A	94711935	2	1	22	1	0	0	0	0	0	0	0	1	12454	1538	54	5		5	PPP4R4	14	94711935	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	129732	94711935	12637605	14480	16626											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	102					0	0	1	0	0	C	94725670	A	C	94725670	3	2	22	1	0	0	0	0	1	0	0	0	12454	69	3	3	2238	3	PPP4R4	14	94725670	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13735	94725670	12623870	14481	16627											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393096.1_Missense_Mutation_p.P119L|SERPINA10_ENST00000554173.1_Missense_Mutation_p.P119L|SERPINA10_ENST00000261994.4_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													52	241					0	0	1	0	0	A	94756575	G	A	94756575	3	1	22	1	0	0	0	0	1	0	0	0	14141	1116	39	1	994	1	SERPINA10	14	94756575	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30905	94756575	12592965	14482	16628											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001747.2	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													10	352					0	0	1	0	0	G	94770780	A	G	94770780	3	3	22	1	0	0	0	0	1	0	0	0	14147	188	7	3	28	3	SERPINA6	14	94770780	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14205	94770780	12578760	14483	16629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402629.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000393087.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000440909.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000437397.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000355814.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000449399.3_Missense_Mutation_p.Y268C|SERPINA1_ENST00000393088.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000404814.4_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													56	297					0	0	1	0	0	C	94847322	T	C	94847322	3	2	22	1	0	0	0	0	1	0	0	0	14140	1638	57	3	465	3	SERPINA1	14	94847322	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	76542	94847322	12502218	14484	16630											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000298845.7_Missense_Mutation_p.R207K|SERPINA9_ENST00000448305.2_Missense_Mutation_p.R209K|SERPINA9_ENST00000424550.2_Missense_Mutation_p.R158K|SERPINA9_ENST00000380365.3_Missense_Mutation_p.R289K|SERPINA9_ENST00000546329.1_Missense_Mutation_p.R271K	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													59	278					0	0	1	0	0	T	94933482	C	T	94933482	3	4	22	1	0	0	0	0	1	0	0	0	14149	913	32	2	399	2	SERPINA9	14	94933482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86160	94933482	12416058	14485	16631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000298845.7_Intron|SERPINA9_ENST00000448305.2_Silent_p.V43V|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000380365.3_Silent_p.V123V|SERPINA9_ENST00000546329.1_Silent_p.V105V	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													15	708					0	0	1	0	0	G	94935809	A	G	94935809	2	3	22	1	0	0	0	0	0	0	0	1	14149	233	9	3		3	SERPINA9	14	94935809	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2327	94935809	12413731	14486	16632											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	453					0	0	1	0	0	C	94962746	T	C	94962746	3	2	22	1	0	0	0	0	1	0	0	0	14143	1667	58	3	387	3	SERPINA12	14	94962746	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26937	94962746	12386794	14487	16633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553780.1_Missense_Mutation_p.L152M|SERPINA5_ENST00000554866.1_Missense_Mutation_p.L152M|SERPINA5_ENST00000554276.1_Missense_Mutation_p.L152M	NM_000624.4	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													48	206					4.62893e-10	4.89299e-10	1	1	0	A	95054153	C	A	95054153	3	1	22	1	0	0	0	0	1	0	0	0	14146	796	28	2	456	2	SERPINA5	14	95054153	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91407	95054153	12295387	14488	16634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553780.1_Silent_p.T160T|SERPINA5_ENST00000554866.1_Silent_p.T160T|SERPINA5_ENST00000554276.1_Silent_p.T160T	NM_000624.4	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													44	259					0	0	1	0	0	T	95054179	C	T	95054179	2	4	22	1	0	0	0	0	0	0	0	1	14146	581	21	2		2	SERPINA5	14	95054179	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26	95054179	12295361	14489	16635											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553780.1_Silent_p.R238R|SERPINA5_ENST00000554866.1_Silent_p.R238R|SERPINA5_ENST00000554276.1_Silent_p.R238R	NM_000624.4	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													41	193					0	0	1	0	0	T	95056472	C	T	95056472	2	4	22	1	0	0	0	0	0	0	0	1	14146	755	27	1		1	SERPINA5	14	95056472	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2293	95056472	12293068	14490	16636											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95090073C>A	ENST00000553947.1	+	8	2157	c.1269C>A	c.(1267-1269)ccC>ccA	p.P423P	SERPINA3_ENST00000467132.1_Silent_p.P398P|SERPINA3_ENST00000393078.3_Silent_p.P398P|SERPINA3_ENST00000393080.4_Silent_p.P398P|SERPINA3_ENST00000482740.1_Silent_p.P180P			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													12	652					0.00010058	0.000102273	1	1	0	A	95090073	C	A	95090073	2	1	22	1	0	0	0	0	0	0	0	1	14144	668	24	2		2	SERPINA3	14	95090073	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33601	95090073	12259467	14491	16637											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343455.3_Missense_Mutation_p.K1759R|DICER1_ENST00000541352.1_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				116	483					0	0	1	0	0	C	95560313	T	C	95560313	3	2	22	1	0	0	0	0	1	0	0	0	4549	1841	64	3	508	3	DICER1	14	95560313	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	470240	95560313	11789227	14492	16638											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343455.3_Missense_Mutation_p.R1368H|DICER1_ENST00000541352.1_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				90	385					0	0	1	0	0	T	95566220	C	T	95566220	3	4	22	1	0	0	0	0	1	0	0	0	4549	768	27	1	1689	1	DICER1	14	95566220	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5907	95566220	11783320	14493	16639											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343455.3_Missense_Mutation_p.K1249T|DICER1_ENST00000541352.1_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				109	482					0	0	1	0	0	G	95569987	T	G	95569987	3	3	22	1	0	0	0	0	1	0	0	0	4549	1841	64	3	2050	3	DICER1	14	95569987	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3767	95569987	11779553	14494	16640											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343455.3_Missense_Mutation_p.V1080M|DICER1_ENST00000541352.1_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				29	589					0	0	1	0	0	T	95571439	C	T	95571439	3	4	22	1	0	0	0	0	1	0	0	0	4549	536	19	1	2562	1	DICER1	14	95571439	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1452	95571439	11778101	14495	16641											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343455.3_Missense_Mutation_p.R944Q|DICER1_ENST00000541352.1_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				73	375					0	0	1	0	0	T	95572534	C	T	95572534	3	4	22	1	0	0	0	0	1	0	0	0	4549	884	31	1	2977	1	DICER1	14	95572534	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1095	95572534	11777006	14496	16642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343455.3_Silent_p.P612P|DICER1_ENST00000541352.1_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				84	343					0	0	1	0	0	C	95582075	T	C	95582075	2	2	22	1	0	0	0	0	0	0	0	1	4549	1683	59	3		3	DICER1	14	95582075	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9541	95582075	11767465	14497	16643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343455.3_Nonsense_Mutation_p.E328*|DICER1_ENST00000541352.1_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				19	445					1.00905e-13	1.09121e-13	1	1	0	A	95590927	C	A	95590927	4	1	22	1	0	0	0	0	0	1	0	0	4549	922	32	2	4866	2	DICER1	14	95590927	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8852	95590927	11758613	14498	16644											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343455.3_Missense_Mutation_p.A155T|DICER1_ENST00000541352.1_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				15	136					0	0	1	0	0	T	95596505	C	T	95596505	3	4	22	1	0	0	0	0	1	0	0	0	4549	768	27	1	5397	1	DICER1	14	95596505	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5578	95596505	11753035	14499	16645											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_060506.5	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													62	316					0	0	1	0	0	A	96758421	G	A	96758421	3	1	22	1	0	0	0	0	1	0	0	0	1093	1145	40	1	819	1	ATG2B	14	96758421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1161916	96758421	10591119	14500	16646											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_060506.5	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													117	529					0	0	1	0	0	A	96777551	G	A	96777551	3	1	22	1	0	0	0	0	1	0	0	0	1093	1087	38	1	2232	1	ATG2B	14	96777551	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19130	96777551	10571989	14501	16647											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_060506.5	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)		CAGTACAATTCTGATAGCAAA	0.358													48	204					5.34276e-22	6.03513e-22	1	1	0	A	96789073	C	A	96789073	5	1	22	1	0	0	0	0	0	0	1	0	1093	927	32	2	3800	2	ATG2B	14	96789073	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11522	96789073	10560467	14502	16648											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_060506.5	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													47	258					0	0	1	0	0	C	96795031	A	C	96795031	3	2	22	1	0	0	0	0	1	0	0	0	1093	246	9	3	4402	3	ATG2B	14	96795031	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5958	96795031	10554509	14503	16649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_060506.5	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													32	183					0	0	1	0	0	G	96813603	A	G	96813603	3	3	22	1	0	0	0	0	1	0	0	0	1093	275	10	3	6162	3	ATG2B	14	96813603	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18572	96813603	10535937	14504	16650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	189					0	0	1	0	0	A	96871122	G	A	96871122	3	1	22	1	0	0	0	0	1	0	0	0	441	1087	38	1	333	1	AK7	14	96871122	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57519	96871122	10478418	14505	16651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	241					0	0	1	0	0	G	96887164	T	G	96887164	3	3	22	1	0	0	0	0	1	0	0	0	441	1490	52	3	522	3	AK7	14	96887164	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16042	96887164	10462376	14506	16652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	311					0	0	1	0	0	C	96904235	T	C	96904235	2	2	22	1	0	0	0	0	0	0	0	1	441	1722	60	3		3	AK7	14	96904235	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17071	96904235	10445305	14507	16653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	678					0	0	1	0	0	T	96909108	C	T	96909108	2	4	22	1	0	0	0	0	0	0	0	1	441	755	27	1		1	AK7	14	96909108	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4873	96909108	10440432	14508	16654											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	332					0	0	1	0	0	A	97018865	G	A	97018865	3	1	22	1	0	0	0	0	1	0	0	0	11476	1058	37	1	1636	1	PAPOLA	14	97018865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109757	97018865	10330675	14509	16655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													149	553					0	0	1	0	0	C	97029194	A	C	97029194	3	2	22	1	0	0	0	0	1	0	0	0	11476	11	1	3	2188	3	PAPOLA	14	97029194	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10329	97029194	10320346	14510	16656											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_022898.1	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								10	224					0	0	1	0	0	T	99640634	C	T	99640634	3	4	22	1	0	0	0	0	1	0	0	0	1362	652	23	1	149	1	BCL11B	14	99640634	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2611440	99640634	7708906	14511	16657											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_022898.1	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								29	100					0	0	1	0	0	T	99641019	C	T	99641019	2	4	22	1	0	0	0	0	0	0	0	1	1362	755	27	1		1	BCL11B	14	99641019	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	385	99641019	7708521	14512	16658											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_138576.2	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								36	140					0	0	1	0	0	T	99697702	C	T	99697702	3	4	22	1	0	0	0	0	1	0	0	0	1362	855	30	2	2072	2	BCL11B	14	99697702	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56683	99697702	7651838	14513	16659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_138576.2	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								27	98					0	0	1	0	0	T	99697788	C	T	99697788	2	4	22	1	0	0	0	0	0	0	0	1	1362	755	27	1		1	BCL11B	14	99697788	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86	99697788	7651752	14514	16660											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_022898.1	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								75	359					2.14232e-31	2.52235e-31	1	1	0	A	99723995	C	A	99723995	3	1	22	1	0	0	0	0	1	0	0	0	1362	564	20	2	2456	2	BCL11B	14	99723995	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26207	99723995	7625545	14515	16661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000555049.1_Silent_p.H19H|CCNK_ENST00000557165.1_3'UTR	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													19	111					0	0	1	0	0	T	99959071	C	T	99959071	2	4	22	1	0	0	0	0	0	0	0	1	2952	477	17	2		2	CCNK	14	99959071	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	235076	99959071	7390469	14516	16662											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	44					0	0	1	0	0	G	99976659	A	G	99976659	3	3	22	1	0	0	0	0	1	0	0	0	2952	391	14	3	1321	3	CCNK	14	99976659	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17588	99976659	7372881	14517	16663											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	157					0	0	1	0	0	A	100119107	G	A	100119107	3	1	22	1	0	0	0	0	1	0	0	0	7134	1145	40	1	808	1	HHIPL1	14	100119107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	142448	100119107	7230433	14518	16664											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	174					0	0	1	0	0	A	100119188	G	A	100119188	3	1	22	1	0	0	0	0	1	0	0	0	7134	1145	40	1	889	1	HHIPL1	14	100119188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81	100119188	7230352	14519	16665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	281					0	0	1	0	0	C	100129317	A	C	100129317	3	2	22	1	0	0	0	0	1	0	0	0	7134	43	2	3	1629	3	HHIPL1	14	100129317	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10129	100129317	7220223	14520	16666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	518					0	0	1	0	0	T	100135184	C	T	100135184	2	4	22	1	0	0	0	0	0	0	0	1	7134	767	27	1		1	HHIPL1	14	100135184	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5867	100135184	7214356	14521	16667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-543C4.3_ENST00000555875.1_lincRNA|CYP46A1_ENST00000423126.2_5'UTR	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													64	270					0	0	1	0	0	A	100158175	G	A	100158175	3	1	22	1	0	0	0	0	1	0	0	0	4205	1145	40	1	269	1	CYP46A1	14	100158175	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22991	100158175	7191365	14522	16668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000261835.3_Silent_p.Q351Q|CYP46A1_ENST00000423126.2_Silent_p.Q254Q			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													42	194					0	0	1	0	0	A	100187648	G	A	100187648	2	1	22	1	0	0	0	0	0	0	0	1	4205	1020	36	2		2	CYP46A1	14	100187648	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29473	100187648	7161892	14523	16669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100367375C>A	ENST00000262233.6	+	9	1146	c.1008_splice	c.e9+1	p.S336_splice	EML1_ENST00000334192.4_Splice_Site_p.S355_splice|EML1_ENST00000327921.9_Splice_Site_p.S324_splice	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													65	295					3.79397e-19	4.22686e-19	1	1	0	A	100367375	C	A	100367375	5	1	22	1	0	0	0	0	0	0	1	0	5124	927	32	2	1102	2	EML1	14	100367375	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179727	100367375	6982165	14524	16670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334192.4_Missense_Mutation_p.V729M|EML1_ENST00000327921.9_Missense_Mutation_p.V698M	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													79	427					0	0	1	0	0	A	100404186	G	A	100404186	3	1	22	1	0	0	0	0	1	0	0	0	5124	1377	48	2	2267	2	EML1	14	100404186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36811	100404186	6945354	14525	16671											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334192.4_Silent_p.G776G|EML1_ENST00000327921.9_Silent_p.G745G	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													62	251					0	0	1	0	0	T	100405613	C	T	100405613	2	4	22	1	0	0	0	0	0	0	0	1	5124	755	27	1		1	EML1	14	100405613	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1427	100405613	6943927	14526	16672											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	59					7.03913e-09	7.37812e-09	1	1	0	T	100705717	G	T	100705717	4	4	22	1	0	0	0	0	0	1	0	0	17567	1175	41	2	138	2	YY1	14	100705717	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	300104	100705717	6643823	14527	16673											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392908.3_Silent_p.P78P|RP11-638I2.6_ENST00000556458.1_lincRNA|SLC25A29_ENST00000556505.1_Missense_Mutation_p.L27P|SLC25A29_ENST00000539621.1_Missense_Mutation_p.L27P|SLC25A29_ENST00000359232.3_Missense_Mutation_p.L93P|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													15	73					0	0	1	0	0	G	100759254	A	G	100759254	3	3	22	1	0	0	0	0	1	0	0	0	14547	304	11	3	637	3	SLC25A29	14	100759254	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	53537	100759254	6590286	14528	16674											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344102.5_Silent_p.S231S|WARS_ENST00000556645.1_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													50	220					0	0	1	0	0	A	100813093	G	A	100813093	2	1	22	1	0	0	0	0	0	0	0	1	17309	1078	38	1		1	WARS	14	100813093	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53839	100813093	6536447	14529	16675											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557135.1_Missense_Mutation_p.R106W|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000392882.2_Missense_Mutation_p.R106W|WARS_ENST00000358655.4_Missense_Mutation_p.R65W|WARS_ENST00000344102.5_Missense_Mutation_p.R65W|WARS_ENST00000556645.1_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													64	261					0	0	1	0	0	A	100826997	G	A	100826997	3	1	22	1	0	0	0	0	1	0	0	0	17309	1057	37	1	1131	1	WARS	14	100826997	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13904	100826997	6522543	14530	16676											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557135.1_Missense_Mutation_p.A68S|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000392882.2_Missense_Mutation_p.A68S|WARS_ENST00000358655.4_Missense_Mutation_p.A27S|WARS_ENST00000344102.5_Missense_Mutation_p.A27S|WARS_ENST00000556645.1_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													88	384					4.92795e-40	5.96786e-40	1	1	0	A	100828156	C	A	100828156	3	1	22	1	0	0	0	0	1	0	0	0	17309	797	28	2	1249	2	WARS	14	100828156	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1159	100828156	6521384	14531	16677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000554998.1_Missense_Mutation_p.S162N|WDR25_ENST00000402312.3_Missense_Mutation_p.S162N|WDR25_ENST00000554175.1_Missense_Mutation_p.162_162insN	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													126	592					0	0	1	0	0	A	100847746	G	A	100847746	3	1	22	1	0	0	0	0	1	0	0	0	17342	971	34	2	487	2	WDR25	14	100847746	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19590	100847746	6501794	14532	16678											
WDR25	79446	broad.mit.edu	37	chr14	100847801	100847801	+	Missense_Mutation	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100847801A>G	ENST00000554175.1	+	2	719	c.540A>G	c.(538-540)agA>agG	p.180_180insR	WDR25_ENST00000554998.1_Silent_p.R180R|WDR25_ENST00000402312.3_Silent_p.R180R|WDR25_ENST00000335290.6_Silent_p.R180R			Q64LD2	WDR25_HUMAN	WD repeat domain 25											central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CTCCCAGAAGACTAAGACAGC	0.537													168	614					0	0	1	0	0	G	100847801	A	G	100847801	3	3	22	1	0	0	0	0	1	0	0	0	17342	272	10	3	542	3	WDR25	14	100847801	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	55	100847801	6501739	14533	16679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000443071.2_Missense_Mutation_p.A193T|BEGAIN_ENST00000355173.2_Missense_Mutation_p.A193T			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													10	109					0	0	1	0	0	T	101005511	C	T	101005511	3	4	22	1	0	0	0	0	1	0	0	0	1395	768	27	1	1208	1	BEGAIN	14	101005511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157710	101005511	6344029	14534	16680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003827.3	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													100	385					1.39607e-43	1.70485e-43	1	1	0	T	101200802	G	T	101200802	3	4	22	1	0	0	0	0	1	0	0	0	4592	1000	35	2	739	2	DLK1	14	101200802	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	195291	101200802	6148738	14535	16681											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	432					0	0	1	0	0	A	102028036	G	A	102028036	3	1	22	1	0	0	0	0	1	0	0	0	4554	1087	38	1	205	1	DIO3	14	102028036	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	827234	102028036	5321504	14536	16682											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	432					0	0	1	0	0	T	102028103	C	T	102028103	2	4	22	1	0	0	0	0	0	0	0	1	4554	755	27	1		1	DIO3	14	102028103	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67	102028103	5321437	14537	16683											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	400					0	0	1	0	0	T	102028265	C	T	102028265	2	4	22	1	0	0	0	0	0	0	0	1	4554	535	19	1		1	DIO3	14	102028265	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	162	102028265	5321275	14538	16684											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334743.5_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000350249.3_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000445439.3_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000557095.1_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													99	407					1.76565e-42	2.15003e-42	1	1	0	T	102368104	G	T	102368104	4	4	22	1	0	0	0	0	0	1	0	0	12443	943	33	2	1304	2	PPP2R5C	14	102368104	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	339839	102368104	4981436	14539	16685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	313					0	0	1	0	0	T	102446777	C	T	102446777	3	4	22	1	0	0	0	0	1	0	0	0	4867	768	27	1	869	1	DYNC1H1	14	102446777	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78673	102446777	4902763	14540	16686											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	335					0	0	1	0	0	T	102453024	C	T	102453024	3	4	22	1	0	0	0	0	1	0	0	0	4867	768	27	1	2492	1	DYNC1H1	14	102453024	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6247	102453024	4896516	14541	16687											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													149	650					0	0	1	0	0	T	102467348	C	T	102467348	4	4	22	1	0	0	0	0	0	1	0	0	4867	760	27	1	4206	1	DYNC1H1	14	102467348	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14324	102467348	4882192	14542	16688											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	612					9.59835e-30	1.1228e-29	1	1	0	A	102472334	C	A	102472334	3	1	22	1	0	0	0	0	1	0	0	0	4867	681	24	2	5649	2	DYNC1H1	14	102472334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4986	102472334	4877206	14543	16689											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	186					0	0	1	0	0	A	102482234	G	A	102482234	2	1	22	1	0	0	0	0	0	0	0	1	4867	1132	40	1		1	DYNC1H1	14	102482234	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9900	102482234	4867306	14544	16690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	486					0	0	1	0	0	C	102493837	T	C	102493837	3	2	22	1	0	0	0	0	1	0	0	0	4867	1783	62	3	9186	3	DYNC1H1	14	102493837	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11603	102493837	4855703	14545	16691	104	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	512					3.68091e-61	4.63301e-61	1	1	0	A	102493846	C	A	102493846	3	1	22	1	0	0	0	0	1	0	0	0	4867	680	24	2	9195	2	DYNC1H1	14	102493846	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9	102493846	4855694	14546	16692	104	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102498609C>A	ENST00000360184.4	+	52	10048	c.9883_splice	c.e52-1	p.A3295_splice		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													24	1439					9.31168e-06	9.55451e-06	1	1	0	A	102498609	C	A	102498609	5	1	22	1	0	0	0	0	0	0	1	0	4867	811	28	2	10090	2	DYNC1H1	14	102498609	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4763	102498609	4850931	14547	16693											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_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													72	377					1.43987e-31	1.69592e-31	1	1	0	A	102505518	C	A	102505518	3	1	22	1	0	0	0	0	1	0	0	0	4867	507	18	2	11625	2	DYNC1H1	14	102505518	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6909	102505518	4844022	14548	16694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_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													41	264					0	0	1	0	0	C	102510214	T	C	102510214	2	2	22	1	0	0	0	0	0	0	0	1	4867	1538	54	3		3	DYNC1H1	14	102510214	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4696	102510214	4839326	14549	16695											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_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													32	158					0	0	1	0	0	T	102514985	C	T	102514985	2	4	22	1	0	0	0	0	0	0	0	1	4867	796	28	2		2	DYNC1H1	14	102514985	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4771	102514985	4834555	14550	16696											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													119	470					0	0	1	0	0	C	102548126	T	C	102548126	3	2	22	1	0	0	0	0	1	0	0	0	7444	1638	57	3	80	3	HSP90AA1	14	102548126	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33141	102548126	4801414	14551	16697											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000441629.2_Missense_Mutation_p.A290T|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.A469T	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													70	451					0	0	1	0	0	T	102549964	C	T	102549964	3	4	22	1	0	0	0	0	1	0	0	0	7444	710	25	2	809	2	HSP90AA1	14	102549964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1838	102549964	4799576	14552	16698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000559185.1_Missense_Mutation_p.A30T|ZNF839_ENST00000558850.1_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													36	153					0	0	1	0	0	A	102792469	G	A	102792469	3	1	22	1	0	0	0	0	1	0	0	0	18235	1087	38	1	442	1	ZNF839	14	102792469	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242505	102792469	4557071	14553	16699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536961.2_Silent_p.L114L|CINP_ENST00000541568.2_Silent_p.L99L	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													92	406					0	0	1	0	0	T	102822114	C	T	102822114	2	4	22	1	0	0	0	0	0	0	0	1	3453	593	21	2		2	CINP	14	102822114	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29645	102822114	4527426	14554	16700											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	171					1.76689e-08	1.84553e-08	1	1	0	T	102900983	G	T	102900983	3	4	22	1	0	0	0	0	1	0	0	0	15803	971	34	2	1859	2	TECPR2	14	102900983	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78869	102900983	4448557	14555	16701											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	171					0	0	1	0	0	T	102901147	C	T	102901147	3	4	22	1	0	0	0	0	1	0	0	0	15803	739	26	2	2023	2	TECPR2	14	102901147	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	164	102901147	4448393	14556	16702											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													249	1140					0	0	1	0	0	A	103174849	G	A	103174849	4	1	22	1	0	0	0	0	0	1	0	0	13234	1183	41	2	721	2	RCOR1	14	103174849	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	273702	103174849	4174691	14557	16703	105	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	1323					0	0	1	0	0	T	103174857	C	T	103174857	3	4	22	1	0	0	0	0	1	0	0	0	13234	536	19	1	729	1	RCOR1	14	103174857	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8	103174857	4174683	14558	16704	105	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	662					0	0	1	0	0	T	103404690	C	T	103404690	3	4	22	1	0	0	0	0	1	0	0	0	3095	768	27	1	261	1	CDC42BPB	14	103404690	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	229833	103404690	3944850	14559	16705											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	217					0	0	1	0	0	A	103444469	G	A	103444469	3	1	22	1	0	0	0	0	1	0	0	0	3095	1145	40	1	4037	1	CDC42BPB	14	103444469	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39779	103444469	3905071	14560	16706											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000333007.1_Silent_p.L415L|TNFAIP2_ENST00000451723.2_Silent_p.L84L			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													86	397					0	0	1	0	0	T	103597432	C	T	103597432	2	4	22	1	0	0	0	0	0	0	0	1	16333	796	28	2		2	TNFAIP2	14	103597432	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152963	103597432	3752108	14561	16707											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392715.2_Nonsense_Mutation_p.R302*|EIF5_ENST00000558506.1_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													60	352					0	0	1	0	0	T	103805668	C	T	103805668	4	4	22	1	0	0	0	0	0	1	0	0	5068	528	19	1	930	1	EIF5	14	103805668	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208236	103805668	3543872	14562	16708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553942.1_Missense_Mutation_p.T609N|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000416682.2_Missense_Mutation_p.T632N|MARK3_ENST00000216288.7_Missense_Mutation_p.T593N|MARK3_ENST00000303622.9_Missense_Mutation_p.T609N|MARK3_ENST00000440884.3_Missense_Mutation_p.T530N|MARK3_ENST00000335102.5_Missense_Mutation_p.T632N	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													49	201					4.86159e-25	5.57236e-25	1	1	0	A	103958353	C	A	103958353	3	1	22	1	0	0	0	0	1	0	0	0	9364	565	20	2	1884	2	MARK3	14	103958353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152685	103958353	3391187	14563	16709											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553942.1_Missense_Mutation_p.A676V|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000416682.2_Missense_Mutation_p.A684V|MARK3_ENST00000216288.7_Missense_Mutation_p.A645V|MARK3_ENST00000303622.9_Missense_Mutation_p.A661V|MARK3_ENST00000440884.3_Missense_Mutation_p.A591V|MARK3_ENST00000335102.5_Missense_Mutation_p.A708V	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													54	231					0	0	1	0	0	T	103969356	C	T	103969356	3	4	22	1	0	0	0	0	1	0	0	0	9364	739	26	2	2124	2	MARK3	14	103969356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11003	103969356	3380184	14564	16710											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000553942.1_Missense_Mutation_p.M706I|MARK3_ENST00000416682.2_Missense_Mutation_p.M714I|MARK3_ENST00000216288.7_Missense_Mutation_p.M675I|MARK3_ENST00000303622.9_Missense_Mutation_p.M691I|MARK3_ENST00000440884.3_Missense_Mutation_p.M621I|MARK3_ENST00000335102.5_Missense_Mutation_p.M738I	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													69	267					2.05175e-36	2.45602e-36	1	1	0	T	103969447	G	T	103969447	3	4	22	1	0	0	0	0	1	0	0	0	9364	1348	47	2	2215	2	MARK3	14	103969447	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91	103969447	3380093	14565	16711											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	133					0	0	1	0	0	T	103988793	C	T	103988793	3	4	22	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	14566	16712											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													134	651					0	0	1	0	0	A	103996563	G	A	103996563	3	1	22	1	0	0	0	0	1	0	0	0	16630	1087	38	1	250	1	TRMT61A	14	103996563	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7770	103996563	3352977	14567	16713											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000299204.4_Missense_Mutation_p.T344A|BAG5_ENST00000337322.4_Missense_Mutation_p.T385A	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													135	488					0	0	1	0	0	C	104026472	T	C	104026472	3	2	22	1	0	0	0	0	1	0	0	0	1288	1696	59	3	317	3	BAG5	14	104026472	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29909	104026472	3323068	14568	16714											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000246489.7_Missense_Mutation_p.T485M|KLC1_ENST00000452929.2_Missense_Mutation_p.T485M|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.T657M|KLC1_ENST00000334553.6_Missense_Mutation_p.T485M|KLC1_ENST00000553286.1_Missense_Mutation_p.T485M|KLC1_ENST00000380038.3_Missense_Mutation_p.T485M|KLC1_ENST00000445352.4_Missense_Mutation_p.T483M|KLC1_ENST00000347839.6_Missense_Mutation_p.T485M|KLC1_ENST00000555836.1_Missense_Mutation_p.T485M|KLC1_ENST00000348520.6_Missense_Mutation_p.T485M|KLC1_ENST00000557575.1_Missense_Mutation_p.T485M|KLC1_ENST00000557450.1_Missense_Mutation_p.T485M|KLC1_ENST00000554280.1_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													81	410					0	0	1	0	0	T	104143826	C	T	104143826	3	4	22	1	0	0	0	0	1	0	0	0	8376	536	19	1	1496	1	KLC1	14	104143826	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117354	104143826	3205714	14569	16715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	140					0	0	1	0	0	A	104473017	G	A	104473017	3	1	22	1	0	0	0	0	1	0	0	0	15795	1319	46	2	1980	2	TDRD9	14	104473017	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	329191	104473017	2876523	14570	16716											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	103					0	0	1	0	0	A	104639499	G	A	104639499	3	1	22	1	0	0	0	0	1	0	0	0	8336	1059	37	1	1636	1	KIF26A	14	104639499	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166482	104639499	2710041	14571	16717											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	166					0	0	1	0	0	A	104642801	G	A	104642801	3	1	22	1	0	0	0	0	1	0	0	0	8336	1319	46	2	3722	2	KIF26A	14	104642801	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3302	104642801	2706739	14572	16718											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	34					0	0	1	0	0	T	105063451	C	T	105063451	3	4	22	1	0	0	0	0	1	0	0	0	16156	768	27	1	282	1	TMEM179	14	105063451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	420650	105063451	2286089	14573	16719											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	101					0	0	1	0	0	T	105174179	C	T	105174179	2	4	22	1	0	0	0	0	0	0	0	1	7778	668	24	2		2	INF2	14	105174179	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110728	105174179	2175361	14574	16720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	160					0	0	1	0	0	T	105174224	C	T	105174224	2	4	22	1	0	0	0	0	0	0	0	1	7778	610	22	2		2	INF2	14	105174224	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45	105174224	2175316	14575	16721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	193					0	0	1	0	0	T	105177986	C	T	105177986	2	4	22	1	0	0	0	0	0	0	0	1	7778	639	23	1		1	INF2	14	105177986	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3762	105177986	2171554	14576	16722											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	196					0	0	1	0	0	T	105179212	C	T	105179212	2	4	22	1	0	0	0	0	0	0	0	1	7778	874	31	1		1	INF2	14	105179212	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1226	105179212	2170328	14577	16723											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	120					0	0	1	0	0	T	105179914	C	T	105179914	3	4	22	1	0	0	0	0	1	0	0	0	7778	855	30	2	3089	2	INF2	14	105179914	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	702	105179914	2169626	14578	16724											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	54					0	0	1	0	0	T	105180722	C	T	105180722	3	4	22	1	0	0	0	0	1	0	0	0	7778	768	27	1	3305	1	INF2	14	105180722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	808	105180722	2168818	14579	16725											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	103					0	0	1	0	0	T	105181089	C	T	105181089	3	4	22	1	0	0	0	0	1	0	0	0	7778	768	27	1	3672	1	INF2	14	105181089	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	367	105181089	2168451	14580	16726											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													146	682					0	0	1	0	0	T	105208312	C	T	105208312	2	4	22	1	0	0	0	0	0	0	0	1	347	874	31	1		1	ADSSL1	14	105208312	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27223	105208312	2141228	14581	16727											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	354					0.000442599	0.000448314	1	1	0	T	105222077	G	T	105222077	3	4	22	1	0	0	0	0	1	0	0	0	14400	1000	35	2	235	2	SIVA1	14	105222077	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13765	105222077	2127463	14582	16728											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000555528.1_Missense_Mutation_p.N128S|AKT1_ENST00000402615.2_Missense_Mutation_p.N128S|AKT1_ENST00000407796.2_Missense_Mutation_p.N128S|AKT1_ENST00000544168.1_Missense_Mutation_p.N66S|AKT1_ENST00000349310.3_Missense_Mutation_p.N128S			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"								15	405					0	0	1	0	0	C	105242041	T	C	105242041	3	2	22	1	0	0	0	0	1	0	0	0	475	1725	60	3	1099	3	AKT1	14	105242041	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19964	105242041	2107499	14583	16729											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000555528.1_Silent_p.S2S|AKT1_ENST00000402615.2_Silent_p.S2S|AKT1_ENST00000407796.2_Silent_p.S2S|AKT1_ENST00000349310.3_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"								50	583					0	0	1	0	0	A	105258975	G	A	105258975	2	1	22	1	0	0	0	0	0	0	0	1	475	1078	38	1		1	AKT1	14	105258975	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16934	105258975	2090565	14584	16730											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	113					0	0	1	0	0	A	105407193	G	A	105407193	2	1	22	1	0	0	0	0	0	0	0	1	412	933	33	2		2	AHNAK2	14	105407193	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148218	105407193	1942347	14585	16731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													198	846					0	0	1	0	0	A	105408319	G	A	105408319	3	1	22	1	0	0	0	0	1	0	0	0	412	1087	38	1	3922	1	AHNAK2	14	105408319	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1126	105408319	1941221	14586	16732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													301	1309					9.30315e-85	1.1921e-84	1	1	0	T	105411530	G	T	105411530	3	4	22	1	0	0	0	0	1	0	0	0	412	991	35	2	7133	2	AHNAK2	14	105411530	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3211	105411530	1938010	14587	16733											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	1578					0	0	1	0	0	T	105412761	C	T	105412761	2	4	22	1	0	0	0	0	0	0	0	1	412	680	24	2		2	AHNAK2	14	105412761	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1231	105412761	1936779	14588	16734											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													366	1415					0	0	1	0	0	T	105412916	C	T	105412916	3	4	22	1	0	0	0	0	1	0	0	0	412	710	25	2	8519	2	AHNAK2	14	105412916	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	105412916	1936624	14589	16735											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													225	1383					4.61621e-74	5.87989e-74	1	1	0	T	105414796	G	T	105414796	3	4	22	1	0	0	0	0	1	0	0	0	412	942	33	2	10399	2	AHNAK2	14	105414796	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1880	105414796	1934744	14590	16736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													251	1115					5.16297e-93	6.63302e-93	1	1	0	T	105416177	G	T	105416177	3	4	22	1	0	0	0	0	1	0	0	0	412	1000	35	2	11780	2	AHNAK2	14	105416177	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1381	105416177	1933363	14591	16737											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	927					3.11337e-16	3.41587e-16	1	1	0	A	105418648	C	A	105418648	3	1	22	1	0	0	0	0	1	0	0	0	412	797	28	2	14251	2	AHNAK2	14	105418648	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2471	105418648	1930892	14592	16738											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													256	1043					1.68201e-53	2.09675e-53	1	1	0	T	105419440	G	T	105419440	3	4	22	1	0	0	0	0	1	0	0	0	412	1232	43	2	15043	2	AHNAK2	14	105419440	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	792	105419440	1930100	14593	16739											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	325					1.24833e-42	1.5209e-42	1	1	0	A	105420293	C	A	105420293	4	1	22	1	0	0	0	0	0	1	0	0	412	922	32	2	15896	2	AHNAK2	14	105420293	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	853	105420293	1929247	14594	16740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	267					0	0	1	0	0	G	105477705	A	G	105477705	3	3	22	1	0	0	0	0	1	0	0	0	3110	420	15	3	167	3	CDCA4	14	105477705	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	57412	105477705	1871835	14595	16741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539291.2_Silent_p.T344T|GPR132_ENST00000392585.2_Silent_p.T335T	NM_013345.2	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													16	313					0	0	1	0	0	A	105517442	G	A	105517442	2	1	22	1	0	0	0	0	0	0	0	1	6682	1103	39	1		1	GPR132	14	105517442	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39737	105517442	1832098	14596	16742											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	67					0	0	1	0	0	T	105613723	C	T	105613723	3	4	22	1	0	0	0	0	1	0	0	0	7979	652	23	1	1325	1	JAG2	14	105613723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96281	105613723	1735817	14597	16743											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	192					0	0	1	0	0	A	105614748	G	A	105614748	2	1	22	1	0	0	0	0	0	0	0	1	7979	1195	42	2		2	JAG2	14	105614748	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1025	105614748	1734792	14598	16744											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	153					0	0	1	0	0	T	105617706	C	T	105617706	3	4	22	1	0	0	0	0	1	0	0	0	7979	478	17	2	2607	2	JAG2	14	105617706	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2958	105617706	1731834	14599	16745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.G254R	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													119	545					0	0	1	0	0	T	105621927	C	T	105621927	3	4	22	1	0	0	0	0	1	0	0	0	7979	652	23	1	3044	1	JAG2	14	105621927	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4221	105621927	1727613	14600	16746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			15	83					0	0	1	0	0	T	105643299	C	T	105643299	5	4	22	1	0	0	0	0	0	0	1	0	10778	521	18	2	489	2	NUDT14	14	105643299	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21372	105643299	1706241	14601	16747											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392557.4_Silent_p.S427S|BRF1_ENST00000446501.2_Silent_p.S393S|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000379937.2_Silent_p.S604S|BRF1_ENST00000327359.3_Silent_p.S516S|BRF1_ENST00000440513.3_Silent_p.S538S|BRF1_ENST00000547530.1_Silent_p.S157S|BRF1_ENST00000551787.1_Intron	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													85	326					0	0	1	0	0	A	105677562	G	A	105677562	2	1	22	1	0	0	0	0	0	0	0	1	1512	1078	38	1		1	BRF1	14	105677562	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34263	105677562	1671978	14602	16748											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392557.4_Missense_Mutation_p.L29I|BRF1_ENST00000446501.2_5'UTR|BRF1_ENST00000379932.4_Missense_Mutation_p.L29I|BRF1_ENST00000379937.2_Missense_Mutation_p.L206I|BRF1_ENST00000327359.3_Missense_Mutation_p.L118I|BRF1_ENST00000440513.3_Missense_Mutation_p.L118I|BRF1_ENST00000551787.1_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													285	1058					7.76047e-84	9.93817e-84	1	1	0	T	105695248	G	T	105695248	3	4	22	1	0	0	0	0	1	0	0	0	1512	971	34	2	1384	2	BRF1	14	105695248	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17686	105695248	1654292	14603	16749											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000548421.1_Missense_Mutation_p.A133V|BRF1_ENST00000379937.2_Missense_Mutation_p.A106V|BRF1_ENST00000327359.3_Missense_Mutation_p.A18V|BRF1_ENST00000440513.3_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													9	448					0	0	1	0	0	A	105739099	G	A	105739099	3	1	22	1	0	0	0	0	1	0	0	0	1512	971	34	2	1699	2	BRF1	14	105739099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43851	105739099	1610441	14604	16750											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													177	764					0	0	1	0	0	T	105905013	C	T	105905013	2	4	22	1	0	0	0	0	0	0	0	1	9956	547	19	1		1	MTA1	14	105905013	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	165914	105905013	1444527	14605	16751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001312.2	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													6	87					0.00307968	0.00310409	1	1	0	T	105945984	G	T	105945984	3	4	22	1	0	0	0	0	1	0	0	0	3898	962	34	2	651	2	CRIP2	14	105945984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40971	105945984	1403556	14606	16752											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	50					0	0	1	0	0	C	105995269	A	C	105995269	3	2	22	1	0	0	0	0	1	0	0	0	16095	43	2	3	100	3	TMEM121	14	105995269	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49285	105995269	1354271	14607	16753											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	394					0	0	1	0	0	G	22382753	A	G	22382753	3	3	22	1	0	0	0	0	1	0	0	0	11126	391	14	3	283	3	OR4N4	15	22382753	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08		22382753	80148639	14608	16754											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	527					4.08981e-53	5.09396e-53	1	1	0	A	22383287	C	A	22383287	3	1	22	1	0	0	0	0	1	0	0	0	11126	913	32	2	817	2	OR4N4	15	22383287	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534	22383287	80148105	14609	16755											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	292					0	0	1	0	0	A	23002959	G	A	23002959	2	1	22	1	0	0	0	0	0	0	0	1	4160	1020	36	2		2	CYFIP1	15	23002959	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	619672	23002959	79528433	14610	16756											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	67					6.40141e-05	6.5221e-05	1	1	0	A	23810940	C	A	23810940	3	1	22	1	0	0	0	0	1	0	0	0	9656	681	24	2	13	2	MKRN3	15	23810940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	807981	23810940	78720452	14611	16757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	362					1.91593e-42	2.3328e-42	1	1	0	A	23811271	C	A	23811271	3	1	22	1	0	0	0	0	1	0	0	0	9656	564	20	2	344	2	MKRN3	15	23811271	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	331	23811271	78720121	14612	16758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000564592.1_Intron|MKRN3_ENST00000568945.1_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													130	611					0	0	1	0	0	C	23812378	T	C	23812378	2	2	22	1	0	0	0	0	0	0	0	1	9656	1461	51	3		3	MKRN3	15	23812378	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1107	23812378	78719014	14613	16759											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	216					4.54978e-40	5.51122e-40	1	1	0	T	23889232	G	T	23889232	3	4	22	1	0	0	0	0	1	0	0	0	9239	971	34	2	95	2	MAGEL2	15	23889232	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76854	23889232	78642160	14614	16760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	303					0	0	1	0	0	A	23890438	G	A	23890438	3	1	22	1	0	0	0	0	1	0	0	0	9239	1203	42	2	1301	2	MAGEL2	15	23890438	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1206	23890438	78640954	14615	16761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				7	239					0	0	1	0	0	A	23931896	G	A	23931896	2	1	22	1	0	0	0	0	0	0	0	1	10294	962	34	2		2	NDN	15	23931896	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41458	23931896	78599496	14616	16762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SNRPN_ENST00000554227.2_Missense_Mutation_p.R65C|SNRPN_ENST00000577565.1_Missense_Mutation_p.R61C|SNRPN_ENST00000400097.1_Missense_Mutation_p.R61C|SNRPN_ENST00000390687.4_Missense_Mutation_p.R61C|SNRPN_ENST00000346403.6_Missense_Mutation_p.R61C|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400098.1_Missense_Mutation_p.R61C|SNRPN_ENST00000400100.1_Missense_Mutation_p.R61C			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				45	284					0	0	1	0	0	T	25221477	C	T	25221477	3	4	22	1	0	0	0	0	1	0	0	0	14924	768	27	1	191	1	SNRPN	15	25221477	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1289581	25221477	77309915	14617	16763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SNRPN_ENST00000554227.2_Missense_Mutation_p.A168S|SNRPN_ENST00000577565.1_Missense_Mutation_p.A164S|SNRPN_ENST00000400097.1_Missense_Mutation_p.A164S|SNRPN_ENST00000390687.4_Missense_Mutation_p.A164S|SNRPN_ENST00000346403.6_Missense_Mutation_p.A164S|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400098.1_Missense_Mutation_p.A164S|SNRPN_ENST00000400100.1_Missense_Mutation_p.A164S			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				39	150					6.2361e-21	7.00342e-21	1	1	0	T	25222994	G	T	25222994	3	4	22	1	0	0	0	0	1	0	0	0	14924	971	34	2	508	2	SNRPN	15	25222994	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1517	25222994	77308398	14618	16764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	UBE3A_ENST00000438097.1_Missense_Mutation_p.S581P|UBE3A_ENST00000428984.2_Missense_Mutation_p.S581P|UBE3A_ENST00000397954.2_Missense_Mutation_p.S604P|UBE3A_ENST00000566215.1_Missense_Mutation_p.S581P|SNHG14_ENST00000554726.1_RNA	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													16	1024					0	0	1	0	0	G	25601996	A	G	25601996	3	3	22	1	0	0	0	0	1	0	0	0	16940	333	12	3	841	3	UBE3A	15	25601996	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	379002	25601996	76929396	14619	16765											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	UBE3A_ENST00000438097.1_Missense_Mutation_p.A521T|UBE3A_ENST00000428984.2_Missense_Mutation_p.A521T|UBE3A_ENST00000397954.2_Missense_Mutation_p.A544T|UBE3A_ENST00000566215.1_Missense_Mutation_p.A521T|SNHG14_ENST00000554726.1_RNA	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													31	150					0	0	1	0	0	T	25605662	C	T	25605662	3	4	22	1	0	0	0	0	1	0	0	0	16940	768	27	1	1025	1	UBE3A	15	25605662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3666	25605662	76925730	14620	16766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	UBE3A_ENST00000438097.1_Missense_Mutation_p.V267I|UBE3A_ENST00000428984.2_Missense_Mutation_p.V267I|UBE3A_ENST00000397954.2_Missense_Mutation_p.V290I|UBE3A_ENST00000566215.1_Missense_Mutation_p.V267I|SNHG14_ENST00000554726.1_RNA	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													47	269					0	0	1	0	0	T	25616462	C	T	25616462	3	4	22	1	0	0	0	0	1	0	0	0	16940	536	19	1	1791	1	UBE3A	15	25616462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10800	25616462	76914930	14621	16767											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	230					0	0	1	0	0	A	25959091	G	A	25959091	3	1	22	1	0	0	0	0	1	0	0	0	1115	1086	38	1	2473	1	ATP10A	15	25959091	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	342629	25959091	76572301	14622	16768											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	141					0	0	1	0	0	T	25963453	C	T	25963453	3	4	22	1	0	0	0	0	1	0	0	0	1115	797	28	2	3098	2	ATP10A	15	25963453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4362	25963453	76567939	14623	16769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	439					0	0	1	0	0	T	26026197	C	T	26026197	3	4	22	1	0	0	0	0	1	0	0	0	1115	652	23	1	3956	1	ATP10A	15	26026197	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62744	26026197	76505195	14624	16770											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000311550.5_Missense_Mutation_p.F331L|GABRB3_ENST00000299267.4_Missense_Mutation_p.F331L|GABRB3_ENST00000545868.1_Missense_Mutation_p.F246L|GABRB3_ENST00000400188.3_Missense_Mutation_p.F260L			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													89	438					2.84431e-33	3.36965e-33	1	1	0	T	26806166	G	T	26806166	3	4	22	1	0	0	0	0	1	0	0	0	6203	933	33	2	436	2	GABRB3	15	26806166	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	779969	26806166	75725226	14625	16771											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000311550.5_Missense_Mutation_p.D120N|GABRB3_ENST00000299267.4_Missense_Mutation_p.D120N|GABRB3_ENST00000545868.1_Missense_Mutation_p.D35N|GABRB3_ENST00000400188.3_Missense_Mutation_p.D49N			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													81	373					0	0	1	0	0	T	26866564	C	T	26866564	3	4	22	1	0	0	0	0	1	0	0	0	6203	884	31	1	1087	1	GABRB3	15	26866564	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60398	26866564	75664828	14626	16772											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	70					0.000175454	0.000178157	1	1	0	A	27017577	C	A	27017577	3	1	22	1	0	0	0	0	1	0	0	0	6203	797	28	2	1237	2	GABRB3	15	27017577	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	151013	27017577	75513815	14627	16773											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_3'UTR|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													71	309					0	0	1	0	0	G	27114471	A	G	27114471	3	3	22	1	0	0	0	0	1	0	0	0	6199	188	7	3	78	3	GABRA5	15	27114471	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	96894	27114471	75416921	14628	16774											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_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													27	648					0	0	1	0	0	A	27128536	G	A	27128536	3	1	22	1	0	0	0	0	1	0	0	0	6199	1116	39	1	343	1	GABRA5	15	27128536	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14065	27128536	75402856	14629	16775											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27185073C>T	ENST00000335625.5	+	9	1614	c.724_splice	c.e9-1	p.G242_splice	GABRA5_ENST00000400081.3_Splice_Site_p.G242_splice|GABRA5_ENST00000355395.5_Splice_Site_p.G242_splice	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													39	184					0	0	1	0	0	T	27185073	C	T	27185073	5	4	22	1	0	0	0	0	0	0	1	0	6199	782	27	1	752	1	GABRA5	15	27185073	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56537	27185073	75346319	14630	16776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	186					1.00776e-21	1.13667e-21	1	1	0	T	27185111	G	T	27185111	3	4	22	1	0	0	0	0	1	0	0	0	6199	1000	35	2	790	2	GABRA5	15	27185111	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38	27185111	75346281	14631	16777											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	35					0	0	1	0	0	A	27188450	G	A	27188450	4	1	22	1	0	0	0	0	0	1	0	0	6199	1270	44	2	996	2	GABRA5	15	27188450	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3339	27188450	75342942	14632	16778											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	234					0	0	1	0	0	A	27572106	G	A	27572106	3	1	22	1	0	0	0	0	1	0	0	0	6208	1203	42	2	435	2	GABRG3	15	27572106	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	383656	27572106	74959286	14633	16779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	341					0	0	1	0	0	C	28357165	T	C	28357165	3	2	22	1	0	0	0	0	1	0	0	0	7099	1725	60	3	259	3	HERC2	15	28357165	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	785059	28357165	74174227	14634	16780											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	258					0	0	1	0	0	A	28358303	G	A	28358303	3	1	22	1	0	0	0	0	1	0	0	0	7099	1087	38	1	366	1	HERC2	15	28358303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1138	28358303	74173089	14635	16781											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	206					0	0	1	0	0	A	28358723	G	A	28358723	3	1	22	1	0	0	0	0	1	0	0	0	7099	1145	40	1	501	1	HERC2	15	28358723	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	420	28358723	74172669	14636	16782											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	161					1.49673e-21	1.68722e-21	1	1	0	T	28360609	G	T	28360609	3	4	22	1	0	0	0	0	1	0	0	0	7099	971	34	2	836	2	HERC2	15	28360609	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1886	28360609	74170783	14637	16783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	395					3.0784e-53	3.83574e-53	1	1	0	T	28377840	G	T	28377840	3	4	22	1	0	0	0	0	1	0	0	0	7099	962	34	2	2193	2	HERC2	15	28377840	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17231	28377840	74153552	14638	16784											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	313					0	0	1	0	0	T	28413705	C	T	28413705	3	4	22	1	0	0	0	0	1	0	0	0	7099	768	27	1	4351	1	HERC2	15	28413705	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35865	28413705	74117687	14639	16785											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	311					0	0	1	0	0	T	28446601	C	T	28446601	5	4	22	1	0	0	0	0	0	0	1	0	7099	521	18	2	6971	2	HERC2	15	28446601	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32896	28446601	74084791	14640	16786											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	408					0	0	1	0	0	G	28463640	T	G	28463640	3	3	22	1	0	0	0	0	1	0	0	0	7099	1609	56	3	8705	3	HERC2	15	28463640	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17039	28463640	74067752	14641	16787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	209					0	0	1	0	0	T	28473421	C	T	28473421	3	4	22	1	0	0	0	0	1	0	0	0	7099	884	31	1	9333	1	HERC2	15	28473421	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9781	28473421	74057971	14642	16788											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	344					0	0	1	0	0	G	28510844	A	G	28510844	3	3	22	1	0	0	0	0	1	0	0	0	7099	391	14	3	13034	3	HERC2	15	28510844	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	37423	28510844	74020548	14643	16789											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	272					0	0	1	0	0	T	28510973	C	T	28510973	2	4	22	1	0	0	0	0	0	0	0	1	7099	726	26	2		2	HERC2	15	28510973	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129	28510973	74020419	14644	16790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	122					0	0	1	0	0	T	28514426	C	T	28514426	3	4	22	1	0	0	0	0	1	0	0	0	7099	536	19	1	13422	1	HERC2	15	28514426	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3453	28514426	74016966	14645	16791											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000411764.1_Missense_Mutation_p.D368N|APBA2_ENST00000558330.1_Missense_Mutation_p.D368N|APBA2_ENST00000561069.1_Missense_Mutation_p.D368N|APBA2_ENST00000558259.1_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													42	436					0	0	1	0	0	A	29385310	G	A	29385310	3	1	22	1	0	0	0	0	1	0	0	0	753	1058	37	1	1116	1	APBA2	15	29385310	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	870884	29385310	73146082	14646	16792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000411764.1_Missense_Mutation_p.A449T|APBA2_ENST00000558330.1_Missense_Mutation_p.A449T|APBA2_ENST00000561069.1_Missense_Mutation_p.A461T|APBA2_ENST00000558259.1_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													21	108					0	0	1	0	0	A	29393844	G	A	29393844	3	1	22	1	0	0	0	0	1	0	0	0	753	1087	38	1	1407	1	APBA2	15	29393844	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8534	29393844	73137548	14647	16793											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	476					0	0	1	0	0	A	29561540	G	A	29561540	3	1	22	1	0	0	0	0	1	0	0	0	10295	1232	43	2	548	2	NDNL2	15	29561540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	167696	29561540	72969852	14648	16794											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356107.6_Missense_Mutation_p.Q1423H|TJP1_ENST00000400011.2_Missense_Mutation_p.Q1347H|TJP1_ENST00000545208.2_Missense_Mutation_p.Q1343H	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													162	750					3.23106e-57	4.04638e-57	1	1	0	A	30003138	C	A	30003138	3	1	22	1	0	0	0	0	1	0	0	0	15989	680	24	2	997	2	TJP1	15	30003138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	441598	30003138	72528254	14649	16795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356107.6_Missense_Mutation_p.S1139P|TJP1_ENST00000400011.2_Missense_Mutation_p.S1063P|TJP1_ENST00000545208.2_Missense_Mutation_p.S1059P	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													129	645					0	0	1	0	0	G	30010931	A	G	30010931	3	3	22	1	0	0	0	0	1	0	0	0	15989	275	10	3	1863	3	TJP1	15	30010931	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7793	30010931	72520461	14650	16796											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356107.6_Missense_Mutation_p.Q1109H|TJP1_ENST00000400011.2_Missense_Mutation_p.Q1033H|TJP1_ENST00000545208.2_Missense_Mutation_p.Q1029H	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													120	609					1.24258e-46	1.52757e-46	1	1	0	A	30011019	C	A	30011019	3	1	22	1	0	0	0	0	1	0	0	0	15989	796	28	2	1951	2	TJP1	15	30011019	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	30011019	72520373	14651	16797											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356107.6_Silent_p.S992S|TJP1_ENST00000400011.2_Intron|TJP1_ENST00000545208.2_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													114	539					0	0	1	0	0	C	30012008	T	C	30012008	2	2	22	1	0	0	0	0	0	0	0	1	15989	1451	51	3		3	TJP1	15	30012008	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	989	30012008	72519384	14652	16798											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30065561C>A	ENST00000346128.6	-	3	559		c.e3-1		TJP1_ENST00000356107.6_Splice_Site|TJP1_ENST00000400011.2_Splice_Site|TJP1_ENST00000495972.2_Splice_Site|TJP1_ENST00000545208.2_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													50	287					1.86633e-21	2.10207e-21	1	1	0	A	30065561	C	A	30065561	5	1	22	1	0	0	0	0	0	0	1	0	15989	695	24	2	5266	2	TJP1	15	30065561	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53553	30065561	72465831	14653	16799											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	377					0	0	1	0	0	T	30659671	C	T	30659671	3	4	22	1	0	0	0	0	1	0	0	0	3397	536	19	1	576	1	CHRFAM7A	15	30659671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	594110	30659671	71871721	14654	16800											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	301					0	0	1	0	0	A	30925773	G	A	30925773	3	1	22	1	0	0	0	0	1	0	0	0	861	1087	38	1	291	1	ARHGAP11B	15	30925773	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	266102	30925773	71605619	14655	16801											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	390					0	0	1	0	0	C	30927350	A	C	30927350	3	2	22	1	0	0	0	0	1	0	0	0	861	72	3	3	637	3	ARHGAP11B	15	30927350	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1577	30927350	71604042	14656	16802											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TRPM1_ENST00000397795.2_Silent_p.F1158F|RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Silent_p.F1180F	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													39	145					0	0	1	0	0	A	31318431	G	A	31318431	2	1	22	1	0	0	0	0	0	0	0	1	16646	1049	37	1		1	TRPM1	15	31318431	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	391081	31318431	71212961	14657	16803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TRPM1_ENST00000397795.2_Missense_Mutation_p.R1154M|RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.R1176M	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													39	137					7.04047e-22	7.94894e-22	1	1	0	A	31318444	C	A	31318444	3	1	22	1	0	0	0	0	1	0	0	0	16646	681	24	2	1358	2	TRPM1	15	31318444	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13	31318444	71212948	14658	16804											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TRPM1_ENST00000397795.2_Missense_Mutation_p.Y1004C|RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.Y1026C	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													105	418					0	0	1	0	0	C	31323236	T	C	31323236	3	2	22	1	0	0	0	0	1	0	0	0	16646	1638	57	3	1824	3	TRPM1	15	31323236	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4792	31323236	71208156	14659	16805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31329913C>A	ENST00000542188.1	-	19	2936		c.e19+1		TRPM1_ENST00000397795.2_Splice_Site|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_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													78	320					3.62344e-47	4.45774e-47	1	1	0	A	31329913	C	A	31329913	5	1	22	1	0	0	0	0	0	0	1	0	16646	579	20	2	2341	2	TRPM1	15	31329913	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6677	31329913	71201479	14660	16806											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TRPM1_ENST00000397795.2_Missense_Mutation_p.Q609H|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.Q631H	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													10	164					0.000442599	0.000448314	1	1	0	A	31334348	C	A	31334348	3	1	22	1	0	0	0	0	1	0	0	0	16646	564	20	2	3032	2	TRPM1	15	31334348	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4435	31334348	71197044	14661	16807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397795.2_Missense_Mutation_p.S50R|TRPM1_ENST00000559179.1_Missense_Mutation_p.S50R|TRPM1_ENST00000256552.6_Missense_Mutation_p.S72R	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													476	2073					0	0	1	0	0	G	31362299	T	G	31362299	3	3	22	1	0	0	0	0	1	0	0	0	16646	1551	54	3	4763	3	TRPM1	15	31362299	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27951	31362299	71169093	14662	16808											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	448					1.39521e-32	1.64848e-32	1	1	0	T	31793994	G	T	31793994	3	4	22	1	0	0	0	0	1	0	0	0	11365	1000	35	2	1747	2	OTUD7A	15	31793994	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	431695	31793994	70737398	14663	16809											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	61					0	0	1	0	0	A	31818563	G	A	31818563	2	1	22	1	0	0	0	0	0	0	0	1	11365	1306	46	2		2	OTUD7A	15	31818563	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24569	31818563	70712829	14664	16810											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	220					2.80697e-09	2.95087e-09	1	1	0	T	31822993	G	T	31822993	3	4	22	1	0	0	0	0	1	0	0	0	11365	1174	41	2	2243	2	OTUD7A	15	31822993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4430	31822993	70708399	14665	16811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000455693.2_Silent_p.P196P|CHRNA7_ENST00000454250.3_Silent_p.P406P	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													62	451					0	0	1	0	0	A	32460281	G	A	32460281	2	1	22	1	0	0	0	0	0	0	0	1	3410	1074	38	1		1	CHRNA7	15	32460281	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	637288	32460281	70071111	14666	16812											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	387					0	0	1	0	0	G	32929721	T	G	32929721	3	3	22	1	0	0	0	0	1	0	0	0	860	1493	52	3	2816	3	ARHGAP11A	15	32929721	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	469440	32929721	69601671	14667	16813											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	342					2.87052e-16	3.15093e-16	1	1	0	T	33149272	G	T	33149272	3	4	22	1	0	0	0	0	1	0	0	0	5982	1174	41	2	407	2	FMN1	15	33149272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219551	33149272	69382120	14668	16814											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	540					0	0	1	0	0	A	33260974	G	A	33260974	2	1	22	1	0	0	0	0	0	0	0	1	5982	1048	37	1		1	FMN1	15	33260974	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111702	33260974	69270418	14669	16815											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													227	959					0	0	1	0	0	A	33261570	G	A	33261570	4	1	22	1	0	0	0	0	0	1	0	0	5982	1095	38	1	1983	1	FMN1	15	33261570	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	596	33261570	69269822	14670	16816											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	476					0	0	1	0	0	A	33261663	G	A	33261663	3	1	22	1	0	0	0	0	1	0	0	0	5982	1057	37	1	2076	1	FMN1	15	33261663	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93	33261663	69269729	14671	16817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	54					0	0	1	0	0	A	33825537	G	A	33825537	3	1	22	1	0	0	0	0	1	0	0	0	13822	942	33	2	398	2	RYR3	15	33825537	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	563874	33825537	68705855	14672	16818											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	381					0	0	1	0	0	G	33855181	A	G	33855181	2	3	22	1	0	0	0	0	0	0	0	1	13822	11	1	3		3	RYR3	15	33855181	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29644	33855181	68676211	14673	16819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	204					0	0	1	0	0	G	33872190	A	G	33872190	3	3	22	1	0	0	0	0	1	0	0	0	13822	159	6	3	1332	3	RYR3	15	33872190	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17009	33872190	68659202	14674	16820											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	304					2.26907e-38	2.73382e-38	1	1	0	A	33873841	C	A	33873841	3	1	22	1	0	0	0	0	1	0	0	0	13822	796	28	2	1624	2	RYR3	15	33873841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1651	33873841	68657551	14675	16821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	938					0	0	1	0	0	T	33895431	C	T	33895431	3	4	22	1	0	0	0	0	1	0	0	0	13822	623	22	2	2100	2	RYR3	15	33895431	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21590	33895431	68635961	14676	16822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	369					0	0	1	0	0	T	33926885	C	T	33926885	2	4	22	1	0	0	0	0	0	0	0	1	13822	697	25	2		2	RYR3	15	33926885	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31454	33926885	68604507	14677	16823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	424					0	0	1	0	0	G	33926918	A	G	33926918	2	3	22	1	0	0	0	0	0	0	0	1	13822	204	8	3		3	RYR3	15	33926918	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33	33926918	68604474	14678	16824											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	143					0	0	1	0	0	T	33927881	C	T	33927881	3	4	22	1	0	0	0	0	1	0	0	0	13822	710	25	2	3344	2	RYR3	15	33927881	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	963	33927881	68603511	14679	16825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	96					0.150653	0.150899	1	1	0	A	33936603	C	A	33936603	4	1	22	1	0	0	0	0	0	1	0	0	13822	776	27	4	3758	4	RYR3	15	33936603	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8722	33936603	68594789	14680	16826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	78					0	0	1	0	0	T	33954523	C	T	33954523	3	4	22	1	0	0	0	0	1	0	0	0	13822	681	24	2	4930	2	RYR3	15	33954523	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17920	33954523	68576869	14681	16827											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	280					3.1711e-36	3.79393e-36	1	1	0	A	33954869	C	A	33954869	3	1	22	1	0	0	0	0	1	0	0	0	13822	681	24	2	5276	2	RYR3	15	33954869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	346	33954869	68576523	14682	16828											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	68					0	0	1	0	0	C	33955915	T	C	33955915	3	2	22	1	0	0	0	0	1	0	0	0	13822	1725	60	3	5738	3	RYR3	15	33955915	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1046	33955915	68575477	14683	16829											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	236					1.23103e-26	1.41986e-26	1	1	0	A	33988633	C	A	33988633	2	1	22	1	0	0	0	0	0	0	0	1	13822	784	28	2		2	RYR3	15	33988633	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32718	33988633	68542759	14684	16830											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	49	233					0	0	1	0	0	A	34030740	G	A	34030740	2	1	22	1	0	0	0	0	0	0	0	1	13822	1306	46	2		2	RYR3	15	34030740	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42107	34030740	68500652	14685	16831											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	170					0	0	1	0	0	T	34040438	C	T	34040438	4	4	22	1	0	0	0	0	0	1	0	0	13822	876	31	1	8327	1	RYR3	15	34040438	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9698	34040438	68490954	14686	16832											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													166	787					1.56208e-101	2.00941e-101	1	1	0	T	34078040	G	T	34078040	3	4	22	1	0	0	0	0	1	0	0	0	13822	1261	44	2	9708	2	RYR3	15	34078040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37602	34078040	68453352	14687	16833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	172					0	0	1	0	0	T	34137128	C	T	34137128	2	4	22	1	0	0	0	0	0	0	0	1	13822	535	19	1		1	RYR3	15	34137128	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59088	34137128	68394264	14688	16834											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	248					3.37043e-27	3.8985e-27	1	1	0	A	34137155	C	A	34137155	3	1	22	1	0	0	0	0	1	0	0	0	13822	912	32	2	13759	2	RYR3	15	34137155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27	34137155	68394237	14689	16835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	205					0	0	1	0	0	T	34355142	C	T	34355142	3	4	22	1	0	0	0	0	1	0	0	0	3402	710	25	2	226	2	CHRM5	15	34355142	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217987	34355142	68176250	14690	16836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													263	1149					1.24967e-88	1.60295e-88	1	1	0	A	34355538	C	A	34355538	3	1	22	1	0	0	0	0	1	0	0	0	3402	913	32	2	622	2	CHRM5	15	34355538	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	396	34355538	68175854	14691	16837											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	370					1.25089e-41	1.52034e-41	1	1	0	T	34355722	G	T	34355722	3	4	22	1	0	0	0	0	1	0	0	0	3402	991	35	2	806	2	CHRM5	15	34355722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	184	34355722	68175670	14692	16838											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	272					2.39187e-15	2.61288e-15	1	1	0	A	34394945	C	A	34394945	2	1	22	1	0	0	0	0	0	0	0	1	11831	784	28	2		2	PGBD4	15	34394945	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39223	34394945	68136447	14693	16839											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	413					0	0	1	0	0	T	34395249	C	T	34395249	2	4	22	1	0	0	0	0	0	0	0	1	11831	796	28	2		2	PGBD4	15	34395249	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	304	34395249	68136143	14694	16840											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	231					0	0	1	0	0	T	34395531	C	T	34395531	3	4	22	1	0	0	0	0	1	0	0	0	11831	623	22	2	801	2	PGBD4	15	34395531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	282	34395531	68135861	14695	16841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	315					0	0	1	0	0	C	34395759	T	C	34395759	2	2	22	1	0	0	0	0	0	0	0	1	11831	1490	52	3		3	PGBD4	15	34395759	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	228	34395759	68135633	14696	16842											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000558589.1_Missense_Mutation_p.R933W|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R883W|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R927W|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R942W|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R883W|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R754W|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R942W|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R891W|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R754W			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													76	325					0	0	1	0	0	A	34529730	G	A	34529730	3	1	22	1	0	0	0	0	1	0	0	0	14442	1144	40	1	648	1	SLC12A6	15	34529730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133971	34529730	68001662	14697	16843											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000558589.1_Missense_Mutation_p.K825N|SLC12A6_ENST00000397702.2_Missense_Mutation_p.K775N|SLC12A6_ENST00000397707.2_Missense_Mutation_p.K819N|SLC12A6_ENST00000560611.1_Missense_Mutation_p.K834N|SLC12A6_ENST00000458406.2_Missense_Mutation_p.K775N|SLC12A6_ENST00000451844.2_Missense_Mutation_p.K646N|SLC12A6_ENST00000558667.1_Missense_Mutation_p.K834N|SLC12A6_ENST00000290209.5_Missense_Mutation_p.K783N|SLC12A6_ENST00000560164.1_Missense_Mutation_p.K646N			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													198	986					5.13203e-58	6.43216e-58	1	1	0	A	34531296	C	A	34531296	3	1	22	1	0	0	0	0	1	0	0	0	14442	796	28	2	978	2	SLC12A6	15	34531296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1566	34531296	68000096	14698	16844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000558589.1_Missense_Mutation_p.D759G|SLC12A6_ENST00000397702.2_Missense_Mutation_p.D709G|SLC12A6_ENST00000397707.2_Missense_Mutation_p.D753G|SLC12A6_ENST00000560611.1_Missense_Mutation_p.D768G|SLC12A6_ENST00000458406.2_Missense_Mutation_p.D709G|SLC12A6_ENST00000451844.2_Missense_Mutation_p.D580G|SLC12A6_ENST00000558667.1_Missense_Mutation_p.D768G|SLC12A6_ENST00000290209.5_Missense_Mutation_p.D717G|SLC12A6_ENST00000560164.1_Missense_Mutation_p.D580G			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													35	138					0	0	1	0	0	C	34532995	T	C	34532995	3	2	22	1	0	0	0	0	1	0	0	0	14442	1667	58	3	1181	3	SLC12A6	15	34532995	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1699	34532995	67998397	14699	16845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000558589.1_Missense_Mutation_p.R310H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R304H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R131H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R268H|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													49	200					0	0	1	0	0	T	34546711	C	T	34546711	3	4	22	1	0	0	0	0	1	0	0	0	14442	536	19	1	2568	1	SLC12A6	15	34546711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13716	34546711	67984681	14700	16846											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	507					0	0	1	0	0	C	34654469	A	C	34654469	3	2	22	1	0	0	0	0	1	0	0	0	8958	101	4	3	656	3	LPCAT4	15	34654469	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	107758	34654469	67876923	14701	16847											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	233					6.20203e-27	7.16519e-27	1	1	0	A	35084354	C	A	35084354	3	1	22	1	0	0	0	0	1	0	0	0	195	565	20	2	400	2	ACTC1	15	35084354	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	429885	35084354	67447038	14702	16848											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	247					2.58029e-29	3.0132e-29	1	1	0	A	35196597	C	A	35196597	3	1	22	1	0	0	0	0	1	0	0	0	832	680	24	2	2584	2	AQR	15	35196597	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112243	35196597	67334795	14703	16849											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	511					0	0	1	0	0	C	35273720	T	C	35273720	3	2	22	1	0	0	0	0	1	0	0	0	18193	1841	64	3	163	3	ZNF770	15	35273720	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	77123	35273720	67257672	14704	16850											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	178					0	0	1	0	0	G	35275070	T	G	35275070	3	3	22	1	0	0	0	0	1	0	0	0	18193	1841	64	3	1513	3	ZNF770	15	35275070	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1350	35275070	67256322	14705	16851											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	307					0	0	1	0	0	C	35275451	T	C	35275451	3	2	22	1	0	0	0	0	1	0	0	0	18193	1841	64	3	1894	3	ZNF770	15	35275451	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	381	35275451	67255941	14706	16852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437989.2_Silent_p.N146N|C15orf41_ENST00000567389.1_Silent_p.N48N|C15orf41_ENST00000338183.4_Silent_p.N48N|C15orf41_ENST00000569302.1_Silent_p.N146N|C15orf41_ENST00000562877.1_Silent_p.N48N	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													24	117					0	0	1	0	0	T	36984338	C	T	36984338	2	4	22	1	0	0	0	0	0	0	0	1	1801	535	19	1		1	C15orf41	15	36984338	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1708887	36984338	65547054	14707	16853											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382766.2_Missense_Mutation_p.E202K|MEIS2_ENST00000561208.1_Missense_Mutation_p.E202K|MEIS2_ENST00000557796.2_Missense_Mutation_p.E189K|MEIS2_ENST00000444725.1_Missense_Mutation_p.E202K|MEIS2_ENST00000397624.3_Missense_Mutation_p.E114K|MEIS2_ENST00000340545.5_Missense_Mutation_p.E189K|MEIS2_ENST00000424352.2_Missense_Mutation_p.E202K|MEIS2_ENST00000559561.1_Missense_Mutation_p.E202K|MEIS2_ENST00000559085.1_Missense_Mutation_p.E189K|MEIS2_ENST00000397620.2_Missense_Mutation_p.E114K|MEIS2_ENST00000219869.9_Missense_Mutation_p.E56K	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													54	302					0	0	1	0	0	T	37385817	C	T	37385817	3	4	22	1	0	0	0	0	1	0	0	0	9518	922	32	2	920	2	MEIS2	15	37385817	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	401479	37385817	65145575	14708	16854											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382766.2_Silent_p.Q49Q|MEIS2_ENST00000561208.1_Silent_p.Q49Q|MEIS2_ENST00000557796.2_Silent_p.Q36Q|MEIS2_ENST00000444725.1_Silent_p.Q49Q|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000340545.5_Silent_p.Q36Q|MEIS2_ENST00000424352.2_Silent_p.Q49Q|MEIS2_ENST00000559561.1_Silent_p.Q49Q|MEIS2_ENST00000559085.1_Silent_p.Q36Q|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000219869.9_5'UTR	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													94	394					0	0	1	0	0	T	37390266	C	T	37390266	2	4	22	1	0	0	0	0	0	0	0	1	9518	796	28	2		2	MEIS2	15	37390266	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4449	37390266	65141126	14709	16855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539159.1_Nonsense_Mutation_p.G570*|RASGRP1_ENST00000450598.2_Nonsense_Mutation_p.G583*|RASGRP1_ENST00000559830.1_Nonsense_Mutation_p.G583*|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000561180.1_Nonsense_Mutation_p.G669*	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													100	434					1.31458e-49	1.62656e-49	1	1	0	A	38791016	C	A	38791016	4	1	22	1	0	0	0	0	0	1	0	0	13126	632	22	2	553	2	RASGRP1	15	38791016	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1400750	38791016	63740376	14710	16856											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539159.1_Missense_Mutation_p.S256N|RASGRP1_ENST00000450598.2_Missense_Mutation_p.S304N|RASGRP1_ENST00000559830.1_Missense_Mutation_p.S304N|RASGRP1_ENST00000558164.1_Missense_Mutation_p.S304N|RASGRP1_ENST00000561180.1_Missense_Mutation_p.S355N	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													75	282					0	0	1	0	0	T	38803860	C	T	38803860	3	4	22	1	0	0	0	0	1	0	0	0	13126	797	28	2	1522	2	RASGRP1	15	38803860	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12844	38803860	63727532	14711	16857											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-624L4.1_ENST00000558209.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.P124S|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													111	509					0	0	1	0	0	T	39544706	C	T	39544706	3	4	22	1	0	0	0	0	1	0	0	0	1808	507	18	2	372	2	C15orf54	15	39544706	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	740846	39544706	62986686	14712	16858											
THBS1	7057	broad.mit.edu	37	chr15	39885650	39885650	+	Silent	SNP	C	C	T													ggcaccttcttcatcaacacCgaaagggacgatgactatgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													222	1117					0	0	1	0	0	T	39885650	C	T	39885650	2	4	22	1	0	0	0	0	0	0	0	1	15913	639	23	1		1	THBS1	15	39885650	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	340944	39885650	62645742	14713	16859	106	2									
THBS1	7057	broad.mit.edu	37	chr15	39885651	39885651	+	Missense_Mutation	SNP	G	G	A													gcaccttcttcatcaacaccGaaagggacgatgactatgct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39885651G>A	ENST00000260356.5	+	19	3214	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1017	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)	CATCAACACCGAAAGGGACGA	0.493													55	1254					0	0	1	0	0	A	39885651	G	A	39885651	3	1	22	1	0	0	0	0	1	0	0	0	15913	1059	37	1	3119	1	THBS1	15	39885651	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1	39885651	62645741	14714	16860	106	2									
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	349					0	0	1	0	0	T	39886550	C	T	39886550	2	4	22	1	0	0	0	0	0	0	0	1	15913	903	32	2		2	THBS1	15	39886550	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	899	39886550	62644842	14715	16861											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													180	860					0	0	1	0	0	G	40005738	T	G	40005738	2	3	22	1	0	0	0	0	0	0	0	1	6109	1538	54	3		3	FSIP1	15	40005738	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	119188	40005738	62525654	14716	16862											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	191					6.08268e-21	6.83416e-21	1	1	0	A	40018892	C	A	40018892	3	1	22	1	0	0	0	0	1	0	0	0	6109	796	28	2	813	2	FSIP1	15	40018892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13154	40018892	62512500	14717	16863											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	601					0	0	1	0	0	T	40269004	C	T	40269004	2	4	22	1	0	0	0	0	0	0	0	1	5025	535	19	1		1	EIF2AK4	15	40269004	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	250112	40269004	62262388	14718	16864											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	99					0	0	1	0	0	T	40303495	C	T	40303495	3	4	22	1	0	0	0	0	1	0	0	0	5025	536	19	1	3813	1	EIF2AK4	15	40303495	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34491	40303495	62227897	14719	16865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001202.4	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				111	525					1.45844e-59	1.83211e-59	1	1	0	A	40494850	C	A	40494850	2	1	22	1	0	0	0	0	0	0	0	1	1574	668	24	2		2	BUB1B	15	40494850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191355	40494850	62036542	14720	16866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260404.4_Missense_Mutation_p.R334H|PAK6_ENST00000441369.1_Missense_Mutation_p.R334H|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Missense_Mutation_p.R334H|PAK6_ENST00000542403.2_Missense_Mutation_p.R334H|PAK6_ENST00000560346.1_Missense_Mutation_p.R334H	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													31	570					0	0	1	0	0	A	40564567	G	A	40564567	3	1	22	1	0	0	0	0	1	0	0	0	11451	1087	38	1	1011	1	PAK6	15	40564567	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69717	40564567	61966825	14721	16867											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40583386T>C	ENST00000260402.3	-	27	3120		c.e27-2		PLCB2_ENST00000557821.1_Splice_Site|PLCB2_ENST00000456256.2_Splice_Site	NM_004573.2	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													8	53					0	0	1	0	0	C	40583386	T	C	40583386	5	2	22	1	0	0	0	0	0	0	1	0	12076	1594	55	3	712	3	PLCB2	15	40583386	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18819	40583386	61948006	14722	16868											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557821.1_Missense_Mutation_p.S826Y|PLCB2_ENST00000456256.2_Missense_Mutation_p.S830Y	NM_004573.2	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													76	322					9.04243e-43	1.10195e-42	1	1	0	T	40584302	G	T	40584302	3	4	22	1	0	0	0	0	1	0	0	0	12076	942	33	2	1108	2	PLCB2	15	40584302	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	916	40584302	61947090	14723	16869											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557821.1_Missense_Mutation_p.P76L|PLCB2_ENST00000456256.2_Missense_Mutation_p.P76L|PLCB2_ENST00000543785.2_Missense_Mutation_p.P76L	NM_004573.2	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													55	288					0	0	1	0	0	A	40595493	G	A	40595493	3	1	22	1	0	0	0	0	1	0	0	0	12076	1232	43	2	3450	2	PLCB2	15	40595493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11191	40595493	61935899	14724	16870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	275					0	0	1	0	0	A	40659920	G	A	40659920	3	1	22	1	0	0	0	0	1	0	0	0	4568	1087	38	1	1637	1	DISP2	15	40659920	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64427	40659920	61871472	14725	16871											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	157					0	0	1	0	0	A	40662041	G	A	40662041	3	1	22	1	0	0	0	0	1	0	0	0	4568	971	34	2	3758	2	DISP2	15	40662041	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2121	40662041	61869351	14726	16872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	309					0	0	1	0	0	A	40751121	G	A	40751121	3	1	22	1	0	0	0	0	1	0	0	0	1295	1087	38	1	460	1	BAHD1	15	40751121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89080	40751121	61780271	14727	16873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	408					2.94851e-48	3.63789e-48	1	1	0	T	40751773	G	T	40751773	2	4	22	1	0	0	0	0	0	0	0	1	1295	1190	42	2		2	BAHD1	15	40751773	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	652	40751773	61779619	14728	16874											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													178	810					0	0	1	0	0	A	40754438	G	A	40754438	3	1	22	1	0	0	0	0	1	0	0	0	1295	1087	38	1	1766	1	BAHD1	15	40754438	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2665	40754438	61776954	14729	16875											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													197	782					0	0	1	0	0	C	40764185	T	C	40764185	3	2	22	1	0	0	0	0	1	0	0	0	3424	1667	58	3	775	3	CHST14	15	40764185	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9747	40764185	61767207	14730	16876											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	603					0	0	1	0	0	T	40863937	C	T	40863937	2	4	22	1	0	0	0	0	0	0	0	1	13719	726	26	2		2	RPUSD2	15	40863937	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99752	40863937	61667455	14731	16877											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	401					0	0	1	0	0	T	40920867	C	T	40920867	2	4	22	1	0	0	0	0	0	0	0	1	2681	796	28	2		2	CASC5	15	40920867	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56930	40920867	61610525	14732	16878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	89					6.72482e-11	7.15107e-11	1	1	0	T	40949277	G	T	40949277	3	4	22	1	0	0	0	0	1	0	0	0	2681	962	34	2	6690	2	CASC5	15	40949277	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28410	40949277	61582115	14733	16879											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000559932.1_Missense_Mutation_p.P35H|GCHFR_ENST00000559445.1_Missense_Mutation_p.P41H|GCHFR_ENST00000260447.4_Missense_Mutation_p.P52H|GCHFR_ENST00000558670.1_3'UTR			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													57	604					7.47603e-22	8.43918e-22	1	1	0	A	41059447	C	A	41059447	3	1	22	1	0	0	0	0	1	0	0	0	6332	681	24	2	165	2	GCHFR	15	41059447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110170	41059447	61471945	14734	16880											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	429					0	0	1	0	0	C	41165267	A	C	41165267	3	2	22	1	0	0	0	0	1	0	0	0	13396	188	7	3	14	3	RHOV	15	41165267	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	105820	41165267	61366125	14735	16881											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	941					1.06801e-11	1.14091e-11	1	1	0	A	41192523	C	A	41192523	3	1	22	1	0	0	0	0	1	0	0	0	17254	797	28	2	1521	2	VPS18	15	41192523	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27256	41192523	61338869	14736	16882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	195					0	0	1	0	0	A	41194882	G	A	41194882	2	1	22	1	0	0	0	0	0	0	0	1	17254	1364	48	2		2	VPS18	15	41194882	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2359	41194882	61336510	14737	16883											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	528					0	0	1	0	0	A	41275118	G	A	41275118	2	1	22	1	0	0	0	0	0	0	0	1	7790	1103	39	1		1	INO80	15	41275118	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80236	41275118	61256274	14738	16884											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	331					2.5808e-16	2.83451e-16	1	1	0	T	41313242	G	T	41313242	3	4	22	1	0	0	0	0	1	0	0	0	7790	933	33	2	1584	2	INO80	15	41313242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38124	41313242	61218150	14739	16885											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000414849.2_Silent_p.R253R|NUSAP1_ENST00000450318.1_Silent_p.R254R|NUSAP1_ENST00000450592.2_Silent_p.R230R|NUSAP1_ENST00000560747.1_Silent_p.R252R|NUSAP1_ENST00000560177.1_Silent_p.R253R|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													24	97					0	0	1	0	0	A	41657701	G	A	41657701	2	1	22	1	0	0	0	0	0	0	0	1	10826	1248	44	2		2	NUSAP1	15	41657701	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	344459	41657701	60873691	14740	16886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	157					5.20006e-24	5.93142e-24	1	1	0	A	41745191	C	A	41745191	2	1	22	1	0	0	0	0	0	0	0	1	13773	668	24	2		2	RTF1	15	41745191	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87490	41745191	60786201	14741	16887											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													3	44					0	0	1	0	0	C	41758365	T	C	41758365	2	2	22	1	0	0	0	0	0	0	0	1	13773	1712	60	3		3	RTF1	15	41758365	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13174	41758365	60773027	14742	16888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000561619.1_Intron|LTK_ENST00000453182.2_Nonsense_Mutation_p.E26*|LTK_ENST00000355166.5_Nonsense_Mutation_p.E26*	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)			20	93					1.33834e-09	1.40959e-09	1	1	0	A	41805286	C	A	41805286	4	1	22	1	0	0	0	0	0	1	0	0	9125	864	30	2	2594	2	LTK	15	41805286	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46921	41805286	60726106	14743	16889											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	145					0	0	1	0	0	A	41814074	G	A	41814074	3	1	22	1	0	0	0	0	1	0	0	0	13593	1087	38	1	1301	1	RPAP1	15	41814074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8788	41814074	60717318	14744	16890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	453					0	0	1	0	0	C	41814317	T	C	41814317	2	2	22	1	0	0	0	0	0	0	0	1	13593	1683	59	3		3	RPAP1	15	41814317	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	243	41814317	60717075	14745	16891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389936.4_Missense_Mutation_p.I328T|MGA_ENST00000570161.1_Missense_Mutation_p.I328T|MGA_ENST00000545763.1_Missense_Mutation_p.I328T|MGA_ENST00000566586.1_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													29	135					0	0	1	0	0	C	41962075	T	C	41962075	3	2	22	1	0	0	0	0	1	0	0	0	9590	1406	49	3	985	3	MGA	15	41962075	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	147758	41962075	60569317	14746	16892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389936.4_Missense_Mutation_p.G726V|MGA_ENST00000570161.1_Missense_Mutation_p.G726V|MGA_ENST00000545763.1_Missense_Mutation_p.G726V|MGA_ENST00000566586.1_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													16	93					5.01169e-05	5.1097e-05	1	1	0	T	41991346	G	T	41991346	3	4	22	1	0	0	0	0	1	0	0	0	9590	1261	44	2	2191	2	MGA	15	41991346	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29271	41991346	60540046	14747	16893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389936.4_Missense_Mutation_p.T1687A|MGA_ENST00000570161.1_Missense_Mutation_p.T1687A|MGA_ENST00000545763.1_Intron|MGA_ENST00000566586.1_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													41	201					0	0	1	0	0	G	42035217	A	G	42035217	3	3	22	1	0	0	0	0	1	0	0	0	9590	43	2	3	5113	3	MGA	15	42035217	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	43871	42035217	60496175	14748	16894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389936.4_Missense_Mutation_p.P1827H|MGA_ENST00000570161.1_Missense_Mutation_p.P1866H|MGA_ENST00000545763.1_Missense_Mutation_p.P1657H|MGA_ENST00000566586.1_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													18	421					7.07596e-05	7.20791e-05	1	1	0	A	42041402	C	A	42041402	3	1	22	1	0	0	0	0	1	0	0	0	9590	681	24	2	5659	2	MGA	15	42041402	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6185	42041402	60489990	14749	16895											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389936.4_Silent_p.L2236L|MGA_ENST00000570161.1_Silent_p.L2275L|MGA_ENST00000545763.1_Silent_p.L2066L|MGA_ENST00000566586.1_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													52	166					0	0	1	0	0	A	42042630	G	A	42042630	2	1	22	1	0	0	0	0	0	0	0	1	9590	1306	46	2		2	MGA	15	42042630	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1228	42042630	60488762	14750	16896											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389936.4_Missense_Mutation_p.P2561L|MGA_ENST00000570161.1_Missense_Mutation_p.P2600L|MGA_ENST00000545763.1_Missense_Mutation_p.P2391L|MGA_ENST00000566586.1_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													49	488					0	0	1	0	0	T	42057138	C	T	42057138	3	4	22	1	0	0	0	0	1	0	0	0	9590	652	23	1	7885	1	MGA	15	42057138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14508	42057138	60474254	14751	16897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389936.4_Silent_p.D2604D|MGA_ENST00000570161.1_Silent_p.D2643D|MGA_ENST00000545763.1_Silent_p.D2434D|MGA_ENST00000566586.1_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													17	321					0	0	1	0	0	T	42058209	C	T	42058209	2	4	22	1	0	0	0	0	0	0	0	1	9590	535	19	1		1	MGA	15	42058209	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1071	42058209	60473183	14752	16898											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260357.7_Missense_Mutation_p.D295G|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.D339G|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.D462G|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.D456G	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													18	95					0	0	1	0	0	G	42107871	A	G	42107871	3	3	22	1	0	0	0	0	1	0	0	0	9342	275	10	3	1431	3	MAPKBP1	15	42107871	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49662	42107871	60423521	14753	16899											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260357.7_Silent_p.P1201P|MAPKBP1_ENST00000221214.6_Silent_p.P1245P|MAPKBP1_ENST00000456763.2_Silent_p.P1368P|MAPKBP1_ENST00000514566.1_Intron	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													110	505					0	0	1	0	0	T	42116132	C	T	42116132	2	4	22	1	0	0	0	0	0	0	0	1	9342	668	24	2		2	MAPKBP1	15	42116132	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8261	42116132	60415260	14754	16900											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260357.7_Missense_Mutation_p.A1246V|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.A1290V|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.A1413V|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.A1130V	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													11	47					0	0	1	0	0	T	42116688	C	T	42116688	3	4	22	1	0	0	0	0	1	0	0	0	9342	768	27	1	4356	1	MAPKBP1	15	42116688	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	556	42116688	60414704	14755	16901											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MAPKBP1_ENST00000260357.7_Silent_p.L1334L|MAPKBP1_ENST00000221214.6_Silent_p.L1378L|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000456763.2_Silent_p.L1501L|MAPKBP1_ENST00000514566.1_Silent_p.L1218L	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													36	200					0	0	1	0	0	T	42117590	C	T	42117590	2	4	22	1	0	0	0	0	0	0	0	1	9342	564	20	2		2	MAPKBP1	15	42117590	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	902	42117590	60413802	14756	16902											
JMJD7-PLA2G4B	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42135893C>T	ENST00000382448.4	+	16	1465	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	JMJD7-PLA2G4B_ENST00000458483.1_Nonsense_Mutation_p.R255*|JMJD7-PLA2G4B_ENST00000342159.4_Nonsense_Mutation_p.R486*|PLA2G4B_ENST00000452633.1_Nonsense_Mutation_p.R255*	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		255	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GCTGGCCGTGCGACTGGGCTT	0.642													62	247					0	0	1	0	0	T	42135893	C	T	42135893	4	4	22	1	0	0	0	0	0	1	0	0	7999	760	27	1	1518	1	JMJD7-PLA2G4B	15	42135893	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18303	42135893	60395499	14757	16903											
JMJD7-PLA2G4B	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42136770C>T	ENST00000382448.4	+	17	1683	c.1674C>T	c.(1672-1674)tgC>tgT	p.C558C	JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.C327C|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.C558C|PLA2G4B_ENST00000452633.1_Silent_p.C327C	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		327	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						TCTTGGATTGCGTCTCCTACA	0.637													43	538					0	0	1	0	0	T	42136770	C	T	42136770	2	4	22	1	0	0	0	0	0	0	0	1	7999	776	27	1		1	JMJD7-PLA2G4B	15	42136770	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	877	42136770	60394622	14758	16904											
JMJD7-PLA2G4B	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42137858C>T	ENST00000382448.4	+	20	2082	c.2073C>T	c.(2071-2073)taC>taT	p.Y691Y	JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.Y460Y|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.Y691Y|PLA2G4B_ENST00000452633.1_Silent_p.Y460Y	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		460	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						TCTCTCCCTACGAGGTCGGCT	0.612													23	299					0	0	1	0	0	T	42137858	C	T	42137858	2	4	22	1	0	0	0	0	0	0	0	1	7999	547	19	1		1	JMJD7-PLA2G4B	15	42137858	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1088	42137858	60393534	14759	16905											
JMJD7-PLA2G4B	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42139009C>T	ENST00000382448.4	+	23	2625	c.2616C>T	c.(2614-2616)gaC>gaT	p.D872D	JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.D641D|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.D872D|PLA2G4B_ENST00000452633.1_Silent_p.D641D	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		641					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						TGTCATTGGACTACAACCTCC	0.637													16	595					0	0	1	0	0	T	42139009	C	T	42139009	2	4	22	1	0	0	0	0	0	0	0	1	7999	564	20	2		2	JMJD7-PLA2G4B	15	42139009	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1151	42139009	60392383	14760	16906											
JMJD7-PLA2G4B	0	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42139603C>T	ENST00000382448.4	+	24	2718	c.2709C>T	c.(2707-2709)ccC>ccT	p.P903P	JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.P672P|JMJD7-PLA2G4B_ENST00000342159.4_Intron|PLA2G4B_ENST00000452633.1_Silent_p.P672P	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		672					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						CGCCCAGCCCCGAAGAGCAGC	0.677													41	975					0	0	1	0	0	T	42139603	C	T	42139603	2	4	22	1	0	0	0	0	0	0	0	1	7999	639	23	1		1	JMJD7-PLA2G4B	15	42139603	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	594	42139603	60391789	14761	16907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	186					0	0	1	0	0	G	42162667	A	G	42162667	2	3	22	1	0	0	0	0	0	0	0	1	15178	69	3	3		3	SPTBN5	15	42162667	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23064	42162667	60368725	14762	16908											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	82					0	0	1	0	0	A	42164561	G	A	42164561	3	1	22	1	0	0	0	0	1	0	0	0	15178	1087	38	1	6088	1	SPTBN5	15	42164561	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1894	42164561	60366831	14763	16909											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	140					0	0	1	0	0	A	42166183	G	A	42166183	3	1	22	1	0	0	0	0	1	0	0	0	15178	1086	38	1	6450	1	SPTBN5	15	42166183	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1622	42166183	60365209	14764	16910											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	221					0	0	1	0	0	A	42178429	G	A	42178429	3	1	22	1	0	0	0	0	1	0	0	0	15178	1086	38	1	10248	1	SPTBN5	15	42178429	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12246	42178429	60352963	14765	16911	107	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	214					1.61004e-24	1.84098e-24	1	1	0	A	42178435	C	A	42178435	3	1	22	1	0	0	0	0	1	0	0	0	15178	768	27	4	10254	4	SPTBN5	15	42178435	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6	42178435	60352957	14766	16912	107	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	293					0	0	1	0	0	C	42211611	A	C	42211611	3	2	22	1	0	0	0	0	1	0	0	0	5006	159	6	3	916	3	EHD4	15	42211611	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33176	42211611	60319781	14767	16913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.L820F	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													16	50					0	0	1	0	0	A	42276014	G	A	42276014	3	1	22	1	0	0	0	0	1	0	0	0	12053	1000	35	2	65	2	PLA2G4E	15	42276014	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64403	42276014	60255378	14768	16914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Silent_p.R428R	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													47	221					0	0	1	0	0	A	42285034	G	A	42285034	2	1	22	1	0	0	0	0	0	0	0	1	12053	1306	46	2		2	PLA2G4E	15	42285034	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9020	42285034	60246358	14769	16915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	369					0	0	1	0	0	T	42364020	C	T	42364020	3	4	22	1	0	0	0	0	1	0	0	0	12052	632	22	2	955	2	PLA2G4D	15	42364020	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78986	42364020	60167372	14770	16916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	403					0	0	1	0	0	T	42373813	C	T	42373813	5	4	22	1	0	0	0	0	0	0	1	0	12052	811	28	2	1675	2	PLA2G4D	15	42373813	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9793	42373813	60157579	14771	16917											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	207					0	0	1	0	0	A	42458803	G	A	42458803	2	1	22	1	0	0	0	0	0	0	0	1	17269	933	33	2		2	VPS39	15	42458803	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84990	42458803	60072589	14772	16918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	311					1.10345e-40	1.33888e-40	1	1	0	T	42481361	G	T	42481361	3	4	22	1	0	0	0	0	1	0	0	0	17269	1029	36	2	2418	2	VPS39	15	42481361	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22558	42481361	60050031	14773	16919											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	278					0	0	1	0	0	C	42521011	A	C	42521011	3	2	22	1	0	0	0	0	1	0	0	0	16270	101	4	3	560	3	TMEM87A	15	42521011	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39650	42521011	60010381	14774	16920											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	559					0	0	1	0	0	C	42602499	T	C	42602499	2	2	22	1	0	0	0	0	0	0	0	1	6274	1654	58	3		3	GANC	15	42602499	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81488	42602499	59928893	14775	16921											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	435					0	0	1	0	0	A	42631902	G	A	42631902	3	1	22	1	0	0	0	0	1	0	0	0	6274	943	33	2	1945	2	GANC	15	42631902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29403	42631902	59899490	14776	16922											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000349748.3_Missense_Mutation_p.S90N|CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000318023.7_Missense_Mutation_p.S90N|CAPN3_ENST00000357568.3_Missense_Mutation_p.S90N|RP11-164J13.1_ENST00000495723.1_RNA	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													27	1757					0	0	1	0	0	A	42652272	G	A	42652272	3	1	22	1	0	0	0	0	1	0	0	0	2646	971	34	2	323	2	CAPN3	15	42652272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20370	42652272	59879120	14777	16923											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000349748.3_Silent_p.K443K|CAPN3_ENST00000356316.3_Silent_p.K404K|CAPN3_ENST00000318023.7_Silent_p.K491K|CAPN3_ENST00000357568.3_Silent_p.K491K|RP11-164J13.1_ENST00000495723.1_RNA	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													39	139					0	0	1	0	0	A	42693957	G	A	42693957	2	1	22	1	0	0	0	0	0	0	0	1	2646	991	35	2		2	CAPN3	15	42693957	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41685	42693957	59837435	14778	16924											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000349748.3_Missense_Mutation_p.H471Y|CAPN3_ENST00000356316.3_Missense_Mutation_p.H432Y|CAPN3_ENST00000318023.7_Missense_Mutation_p.H519Y|CAPN3_ENST00000397200.4_Missense_Mutation_p.H7Y|CAPN3_ENST00000357568.3_Missense_Mutation_p.H519Y|RP11-164J13.1_ENST00000495723.1_RNA	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													50	284					0	0	1	0	0	T	42695010	C	T	42695010	3	4	22	1	0	0	0	0	1	0	0	0	2646	710	25	2	1657	2	CAPN3	15	42695010	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1053	42695010	59836382	14779	16925											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000349748.3_Missense_Mutation_p.H626R|CAPN3_ENST00000356316.3_Missense_Mutation_p.H625R|CAPN3_ENST00000318023.7_Missense_Mutation_p.H712R|CAPN3_ENST00000337571.4_Missense_Mutation_p.H53R|CAPN3_ENST00000397200.4_Missense_Mutation_p.H206R|CAPN3_ENST00000397204.4_Missense_Mutation_p.H53R|CAPN3_ENST00000561817.1_Missense_Mutation_p.H53R|CAPN3_ENST00000569136.1_Missense_Mutation_p.H53R|CAPN3_ENST00000357568.3_Missense_Mutation_p.H712R|CAPN3_ENST00000562199.1_3'UTR|RP11-164J13.1_ENST00000495723.1_RNA	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													103	355					0	0	1	0	0	G	42702663	A	G	42702663	3	3	22	1	0	0	0	0	1	0	0	0	2646	159	6	3	2283	3	CAPN3	15	42702663	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7653	42702663	59828729	14780	16926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000349777.1_Nonsense_Mutation_p.R133*|SNAP23_ENST00000564153.1_Intron|SNAP23_ENST00000397138.1_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													61	335					0	0	1	0	0	T	42822003	C	T	42822003	4	4	22	1	0	0	0	0	0	1	0	0	14883	528	19	1	578	1	SNAP23	15	42822003	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119340	42822003	59709389	14781	16927											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000349777.1_Missense_Mutation_p.D157Y|SNAP23_ENST00000564153.1_Missense_Mutation_p.L108F|SNAP23_ENST00000397138.1_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													12	583					0.00136819	0.0013818	1	1	0	T	42823668	G	T	42823668	3	4	22	1	0	0	0	0	1	0	0	0	14883	1290	45	2	654	2	SNAP23	15	42823668	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1665	42823668	59707724	14782	16928											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000568846.2_Missense_Mutation_p.I89M|HAUS2_ENST00000568876.1_Missense_Mutation_p.T60A	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													53	242					0	0	1	0	0	G	42853482	A	G	42853482	3	3	22	1	0	0	0	0	1	0	0	0	7007	391	14	3	285	3	HAUS2	15	42853482	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29814	42853482	59677910	14783	16929											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	247					0	0	1	0	0	A	43024010	G	A	43024010	3	1	22	1	0	0	0	0	1	0	0	0	3076	1000	35	2	2208	2	CDAN1	15	43024010	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	170528	43024010	59507382	14784	16930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	70					2.27111e-07	2.35674e-07	1	1	0	A	43027493	C	A	43027493	3	1	22	1	0	0	0	0	1	0	0	0	3076	680	24	2	2756	2	CDAN1	15	43027493	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3483	43027493	59503899	14785	16931											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	62					0	0	1	0	0	C	43027557	T	C	43027557	3	2	22	1	0	0	0	0	1	0	0	0	3076	1725	60	3	2820	3	CDAN1	15	43027557	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64	43027557	59503835	14786	16932											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	251					0	0	1	0	0	A	43027821	G	A	43027821	3	1	22	1	0	0	0	0	1	0	0	0	3076	1059	37	1	2953	1	CDAN1	15	43027821	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	264	43027821	59503571	14787	16933											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	682					1.7104e-27	1.9812e-27	1	1	0	A	43045264	C	A	43045264	3	1	22	1	0	0	0	0	1	0	0	0	16739	913	32	2	1562	2	TTBK2	15	43045264	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17443	43045264	59486128	14788	16934											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	491					1.25848e-56	1.57502e-56	1	1	0	T	43067457	G	T	43067457	3	4	22	1	0	0	0	0	1	0	0	0	16739	1000	35	2	1872	2	TTBK2	15	43067457	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22193	43067457	59463935	14789	16935											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	251					0	0	1	0	0	A	43351939	G	A	43351939	3	1	22	1	0	0	0	0	1	0	0	0	16962	1087	38	1	4463	1	UBR1	15	43351939	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	284482	43351939	59179453	14790	16936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	408					0	0	1	0	0	A	43503705	G	A	43503705	3	1	22	1	0	0	0	0	1	0	0	0	5186	971	34	2	1657	2	EPB42	15	43503705	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	151766	43503705	59027687	14791	16937											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	301					0	0	1	0	0	T	43527084	C	T	43527084	2	4	22	1	0	0	0	0	0	0	0	1	15893	564	20	2		2	TGM5	15	43527084	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23379	43527084	59004308	14792	16938											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	162					1.39806e-14	1.52044e-14	1	1	0	A	43571363	C	A	43571363	3	1	22	1	0	0	0	0	1	0	0	0	15895	710	25	2	353	2	TGM7	15	43571363	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44279	43571363	58960029	14793	16939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	126					0	0	1	0	0	A	43574251	G	A	43574251	3	1	22	1	0	0	0	0	1	0	0	0	15895	1203	42	2	1010	2	TGM7	15	43574251	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2888	43574251	58957141	14794	16940											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_5'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													106	447					9.91269e-35	1.18019e-34	1	1	0	A	43621480	C	A	43621480	3	1	22	1	0	0	0	0	1	0	0	0	8718	797	28	2	856	2	LCMT2	15	43621480	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47229	43621480	58909912	14795	16941											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.I361S|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.I360S	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													118	485					0	0	1	0	0	C	43653581	A	C	43653581	3	2	22	1	0	0	0	0	1	0	0	0	18276	333	12	3	313	3	ZSCAN29	15	43653581	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32101	43653581	58877811	14796	16942											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	183					0	0	1	0	0	C	43672359	A	C	43672359	3	2	22	1	0	0	0	0	1	0	0	0	16830	11	1	3	541	3	TUBGCP4	15	43672359	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18778	43672359	58859033	14797	16943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	289					0	0	1	0	0	T	43692416	C	T	43692416	2	4	22	1	0	0	0	0	0	0	0	1	16830	842	30	2		2	TUBGCP4	15	43692416	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20057	43692416	58838976	14798	16944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	358					0	0	1	0	0	T	43693986	C	T	43693986	4	4	22	1	0	0	0	0	0	1	0	0	16830	644	23	1	1727	1	TUBGCP4	15	43693986	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1570	43693986	58837406	14799	16945											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450115.2_Missense_Mutation_p.K1729T|TP53BP1_ENST00000382039.3_Missense_Mutation_p.K1681T|TP53BP1_ENST00000382044.4_Missense_Mutation_p.K1731T	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					42	190					0	0	1	0	0	G	43705430	T	G	43705430	3	3	22	1	0	0	0	0	1	0	0	0	16444	1609	56	3	761	3	TP53BP1	15	43705430	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11444	43705430	58825962	14800	16946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450115.2_Missense_Mutation_p.S1594P|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S1544P|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S1594P	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					78	343					0	0	1	0	0	G	43708516	A	G	43708516	3	3	22	1	0	0	0	0	1	0	0	0	16444	275	10	3	1181	3	TP53BP1	15	43708516	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3086	43708516	58822876	14801	16947											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450115.2_Missense_Mutation_p.R1401H|TP53BP1_ENST00000382039.3_Intron|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1401H	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					124	537					0	0	1	0	0	T	43713271	C	T	43713271	3	4	22	1	0	0	0	0	1	0	0	0	16444	536	19	1	1767	1	TP53BP1	15	43713271	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4755	43713271	58818121	14802	16948											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000300231.5_Missense_Mutation_p.E981G|MAP1A_ENST00000399453.1_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													118	581					0	0	1	0	0	G	43816613	A	G	43816613	3	3	22	1	0	0	0	0	1	0	0	0	9277	304	11	3	2944	3	MAP1A	15	43816613	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	103342	43816613	58714779	14803	16949											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000300231.5_Missense_Mutation_p.G1110S|MAP1A_ENST00000399453.1_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													83	414					0	0	1	0	0	A	43816999	G	A	43816999	3	1	22	1	0	0	0	0	1	0	0	0	9277	1000	35	2	3330	2	MAP1A	15	43816999	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	386	43816999	58714393	14804	16950											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000300231.5_Missense_Mutation_p.Y1273H|MAP1A_ENST00000399453.1_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													52	263					0	0	1	0	0	C	43817488	T	C	43817488	3	2	22	1	0	0	0	0	1	0	0	0	9277	1406	49	3	3819	3	MAP1A	15	43817488	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	489	43817488	58713904	14805	16951											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000300231.5_Missense_Mutation_p.R1771C|MAP1A_ENST00000399453.1_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													115	618					0	0	1	0	0	T	43818982	C	T	43818982	3	4	22	1	0	0	0	0	1	0	0	0	9277	768	27	1	5313	1	MAP1A	15	43818982	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1494	43818982	58712410	14806	16952											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334933.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000432870.3_5'UTR|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000348806.6_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													87	440					6.34794e-51	7.87186e-51	1	1	0	T	43873540	G	T	43873540	3	4	22	1	0	0	0	0	1	0	0	0	12381	942	33	2	3693	2	PPIP5K1	15	43873540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54558	43873540	58657852	14807	16953											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													3	49					0	0	1	0	0	A	43897593	G	A	43897593	4	1	22	1	0	0	0	0	0	1	0	0	15384	1357	47	2	1572	2	STRC	15	43897593	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24053	43897593	58633799	14808	16954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	494					0	0	1	0	0	T	43910165	C	T	43910165	3	4	22	1	0	0	0	0	1	0	0	0	15384	623	22	2	4985	2	STRC	15	43910165	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12572	43910165	58621227	14809	16955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	454					0	0	1	0	0	C	43990318	T	C	43990318	3	2	22	1	0	0	0	0	1	0	0	0	3472	1696	59	3	1009	3	CKMT1A	15	43990318	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	80153	43990318	58541074	14810	16956											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	707					0	0	1	0	0	T	44057696	C	T	44057696	2	4	22	1	0	0	0	0	0	0	0	1	11716	477	17	2		2	PDIA3	15	44057696	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67378	44057696	58473696	14811	16957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	573					1.75199e-13	1.89187e-13	1	1	0	A	44059072	C	A	44059072	3	1	22	1	0	0	0	0	1	0	0	0	11716	797	28	2	1022	2	PDIA3	15	44059072	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1376	44059072	58472320	14812	16958											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	227					0	0	1	0	0	A	44062493	G	A	44062493	3	1	22	1	0	0	0	0	1	0	0	0	11716	971	34	2	1354	2	PDIA3	15	44062493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3421	44062493	58468899	14813	16959											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	253					0	0	1	0	0	C	44184228	A	C	44184228	3	2	22	1	0	0	0	0	1	0	0	0	6088	14	1	3	1061	3	FRMD5	15	44184228	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	121735	44184228	58347164	14814	16960											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													130	591					0	0	1	0	0	A	44216429	G	A	44216429	3	1	22	1	0	0	0	0	1	0	0	0	6088	1116	39	1	1583	1	FRMD5	15	44216429	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32201	44216429	58314963	14815	16961											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360824.3_Missense_Mutation_p.E44A|CASC4_ENST00000345795.2_Missense_Mutation_p.E44A|CASC4_ENST00000429162.2_3'UTR	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													104	435					0	0	1	0	0	C	44581358	A	C	44581358	3	2	22	1	0	0	0	0	1	0	0	0	2680	304	11	3	133	3	CASC4	15	44581358	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	364929	44581358	57950034	14816	16962											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360824.3_Intron|CASC4_ENST00000345795.2_Intron|RP11-516C1.1_ENST00000558047.1_RNA	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													46	176					0	0	1	0	0	C	44695169	T	C	44695169	3	2	22	1	0	0	0	0	1	0	0	0	2680	1638	57	3	1191	3	CASC4	15	44695169	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	113811	44695169	57836223	14817	16963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535302.2_Silent_p.K2300K|SPG11_ENST00000427534.2_3'UTR	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													66	233					0	0	1	0	0	T	44855412	C	T	44855412	2	4	22	1	0	0	0	0	0	0	0	1	15097	564	20	2		2	SPG11	15	44855412	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160243	44855412	57675980	14818	16964											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535302.2_Missense_Mutation_p.H175Y|SPG11_ENST00000558319.1_Missense_Mutation_p.H175Y|SPG11_ENST00000559193.1_Missense_Mutation_p.H175Y|SPG11_ENST00000427534.2_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													10	359					0	0	1	0	0	A	44951421	G	A	44951421	3	1	22	1	0	0	0	0	1	0	0	0	15097	1377	48	2	6960	2	SPG11	15	44951421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96009	44951421	57579971	14819	16965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000338264.4_Missense_Mutation_p.K92N|TRIM69_ENST00000560442.1_Missense_Mutation_p.K47N|TRIM69_ENST00000559390.1_Missense_Mutation_p.K251N|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													6	163					0.217242	0.217458	1	1	0	T	45050992	G	T	45050992	3	4	22	1	0	0	0	0	1	0	0	0	16603	991	35	2	767	2	TRIM69	15	45050992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99571	45050992	57480400	14820	16966											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000338264.4_Missense_Mutation_p.R201K|TRIM69_ENST00000560442.1_Missense_Mutation_p.R156K|TRIM69_ENST00000559390.1_Missense_Mutation_p.R360K|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													117	572					0	0	1	0	0	A	45059546	G	A	45059546	3	1	22	1	0	0	0	0	1	0	0	0	16603	1000	35	2	1105	2	TRIM69	15	45059546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8554	45059546	57471846	14821	16967											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	327					0	0	1	0	0	T	45394056	C	T	45394056	3	4	22	1	0	0	0	0	1	0	0	0	4827	652	23	1	1916	1	DUOX2	15	45394056	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	334510	45394056	57137336	14822	16968											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	255					0	0	1	0	0	A	45408806	G	A	45408806	3	1	22	1	0	0	0	0	1	0	0	0	4829	1087	38	1	447	1	DUOXA2	15	45408806	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14750	45408806	57122586	14823	16969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45431796C>T	ENST00000321429.4	+	13	1795	c.1389_splice	c.e13+1	p.T463_splice	DUOX1_ENST00000389037.3_Splice_Site_p.T463_splice|DUOX1_ENST00000561166.1_Splice_Site_p.T109_splice	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													32	152					0	0	1	0	0	T	45431796	C	T	45431796	5	4	22	1	0	0	0	0	0	0	1	0	4826	579	20	2	1430	2	DUOX1	15	45431796	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22990	45431796	57099596	14824	16970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	525					0	0	1	0	0	A	45437193	G	A	45437193	3	1	22	1	0	0	0	0	1	0	0	0	4826	1116	39	1	2303	1	DUOX1	15	45437193	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5397	45437193	57094199	14825	16971											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	197					0	0	1	0	0	A	45444185	G	A	45444185	3	1	22	1	0	0	0	0	1	0	0	0	4826	1087	38	1	3218	1	DUOX1	15	45444185	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6992	45444185	57087207	14826	16972											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.F864L	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													12	577					5.50884e-06	5.65664e-06	1	1	0	A	45448079	C	A	45448079	3	1	22	1	0	0	0	0	1	0	0	0	4826	854	30	2	3760	2	DUOX1	15	45448079	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3894	45448079	57083313	14827	16973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.G908V	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													105	400					4.10057e-40	4.96875e-40	1	1	0	T	45453117	G	T	45453117	3	4	22	1	0	0	0	0	1	0	0	0	4826	1203	42	2	3895	2	DUOX1	15	45453117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5038	45453117	57078275	14828	16974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.T1069M	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)	45	270					0	0	1	0	0	T	45455749	C	T	45455749	3	4	22	1	0	0	0	0	1	0	0	0	4826	536	19	1	4390	1	DUOX1	15	45455749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2632	45455749	57075643	14829	16975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.L1114M	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)	84	361					9.34078e-37	1.11935e-36	1	1	0	A	45455883	C	A	45455883	3	1	22	1	0	0	0	0	1	0	0	0	4826	796	28	2	4524	2	DUOX1	15	45455883	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134	45455883	57075509	14830	16976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389433.2_Silent_p.V242V|SEMA6D_ENST00000389432.2_Silent_p.V242V|SEMA6D_ENST00000389428.3_Silent_p.V242V|SEMA6D_ENST00000358066.4_Silent_p.V242V|SEMA6D_ENST00000355997.3_Silent_p.V242V|SEMA6D_ENST00000354744.4_Silent_p.V242V|SEMA6D_ENST00000536845.2_Silent_p.V242V|SEMA6D_ENST00000389425.3_Silent_p.V242V|SEMA6D_ENST00000537942.1_Silent_p.V242V|SEMA6D_ENST00000558816.1_Silent_p.V242V|SEMA6D_ENST00000558014.1_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													26	150					0	0	1	0	0	T	48055280	C	T	48055280	2	4	22	1	0	0	0	0	0	0	0	1	14096	871	31	1		1	SEMA6D	15	48055280	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2599397	48055280	54476112	14831	16977											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389433.2_Silent_p.R254R|SEMA6D_ENST00000389432.2_Silent_p.R254R|SEMA6D_ENST00000389428.3_Silent_p.R254R|SEMA6D_ENST00000358066.4_Silent_p.R254R|SEMA6D_ENST00000355997.3_Silent_p.R254R|SEMA6D_ENST00000354744.4_Silent_p.R254R|SEMA6D_ENST00000536845.2_Silent_p.R254R|SEMA6D_ENST00000389425.3_Silent_p.R254R|SEMA6D_ENST00000537942.1_Silent_p.R254R|SEMA6D_ENST00000558816.1_Silent_p.R254R|SEMA6D_ENST00000558014.1_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													162	672					0	0	1	0	0	T	48056061	C	T	48056061	2	4	22	1	0	0	0	0	0	0	0	1	14096	755	27	1		1	SEMA6D	15	48056061	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	781	48056061	54475331	14832	16978											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	399					0	0	1	0	0	A	48414088	G	A	48414088	2	1	22	1	0	0	0	0	0	0	0	1	14524	1103	39	1		1	SLC24A5	15	48414088	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	358027	48414088	54117304	14833	16979											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48426538G>A	ENST00000341459.3	+	3	458	c.385_splice	c.e3+1	p.G129_splice	SLC24A5_ENST00000449382.2_Splice_Site_p.G69_splice	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													74	384					0	0	1	0	0	A	48426538	G	A	48426538	5	1	22	1	0	0	0	0	0	0	1	0	14524	1014	35	2	395	2	SLC24A5	15	48426538	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12450	48426538	54104854	14834	16980											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_057216.2	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													132	551					0	0	1	0	0	T	48441415	C	T	48441415	3	4	22	1	0	0	0	0	1	0	0	0	10072	855	30	2	282	2	MYEF2	15	48441415	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14877	48441415	54089977	14835	16981											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000558405.1_Nonsense_Mutation_p.R471*|SLC12A1_ENST00000380993.3_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													30	168					0	0	1	0	0	T	48537060	C	T	48537060	4	4	22	1	0	0	0	0	0	1	0	0	14437	876	31	1	1549	1	SLC12A1	15	48537060	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95645	48537060	53994332	14836	16982											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000561350.1_3'UTR|DUT_ENST00000559935.1_Missense_Mutation_p.G90D|DUT_ENST00000559416.1_Missense_Mutation_p.G90D|DUT_ENST00000558813.1_Missense_Mutation_p.G64D|DUT_ENST00000559540.1_Missense_Mutation_p.G87D|DUT_ENST00000455976.2_Missense_Mutation_p.G87D	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					51	234					0	0	1	0	0	A	48628255	G	A	48628255	3	1	22	1	0	0	0	0	1	0	0	0	4859	1203	42	2	554	2	DUT	15	48628255	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91195	48628255	53903137	14837	16983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000129.3	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													56	638					0	0	1	0	0	T	48703398	C	T	48703398	3	4	22	1	0	0	0	0	1	0	0	0	5735	739	26	2	214	2	FBN1	15	48703398	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75143	48703398	53827994	14838	16984											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000129.3	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													154	593					0	0	1	0	0	A	48704816	G	A	48704816	3	1	22	1	0	0	0	0	1	0	0	0	5735	1144	40	1	447	1	FBN1	15	48704816	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1418	48704816	53826576	14839	16985											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000129.3	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													29	152					3.73148e-12	3.99992e-12	1	1	0	A	48718062	C	A	48718062	5	1	22	1	0	0	0	0	0	0	1	0	5735	927	32	2	1443	2	FBN1	15	48718062	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13246	48718062	53813330	14840	16986											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000129.3	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													23	222					0	0	1	0	0	T	48720570	C	T	48720570	3	4	22	1	0	0	0	0	1	0	0	0	5735	768	27	1	1685	1	FBN1	15	48720570	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2508	48720570	53810822	14841	16987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000129.3	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													82	345					0	0	1	0	0	T	48760266	C	T	48760266	3	4	22	1	0	0	0	0	1	0	0	0	5735	884	31	1	4115	1	FBN1	15	48760266	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39696	48760266	53771126	14842	16988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000129.3	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													37	189					0	0	1	0	0	A	48779354	G	A	48779354	2	1	22	1	0	0	0	0	0	0	0	1	5735	1190	42	2		2	FBN1	15	48779354	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19088	48779354	53752038	14843	16989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48779509C>T	ENST00000316623.5	-	28	3918	c.3463_splice	c.e28+1	p.D1155_splice		NM_000138.4	NP_000129.3	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													72	276					0	0	1	0	0	T	48779509	C	T	48779509	5	4	22	1	0	0	0	0	0	0	1	0	5735	666	23	1	5308	1	FBN1	15	48779509	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	48779509	53751883	14844	16990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000129.3	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													119	509					0	0	1	0	0	T	48779598	C	T	48779598	3	4	22	1	0	0	0	0	1	0	0	0	5735	884	31	1	5397	1	FBN1	15	48779598	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89	48779598	53751794	14845	16991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000129.3	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													138	727					0	0	1	0	0	A	48787772	G	A	48787772	2	1	22	1	0	0	0	0	0	0	0	1	5735	1079	38	1		1	FBN1	15	48787772	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8174	48787772	53743620	14846	16992											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000129.3	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													44	206					0	0	1	0	0	T	48812972	C	T	48812972	3	4	22	1	0	0	0	0	1	0	0	0	5735	768	27	1	7812	1	FBN1	15	48812972	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25200	48812972	53718420	14847	16993											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000129.3	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													75	326					0	0	1	0	0	G	48905247	A	G	48905247	2	3	22	1	0	0	0	0	0	0	0	1	5735	175	7	3		3	FBN1	15	48905247	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	92275	48905247	53626145	14848	16994											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	332					3.09479e-21	3.48195e-21	1	1	0	A	49030524	C	A	49030524	3	1	22	1	0	0	0	0	1	0	0	0	3270	796	28	2	81	2	CEP152	15	49030524	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125277	49030524	53500868	14849	16995											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	410					7.43734e-37	8.91631e-37	1	1	0	T	49054658	G	T	49054658	3	4	22	1	0	0	0	0	1	0	0	0	3270	1203	42	2	2508	2	CEP152	15	49054658	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24134	49054658	53476734	14850	16996											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													165	686					0	0	1	0	0	T	49059316	C	T	49059316	3	4	22	1	0	0	0	0	1	0	0	0	3270	855	30	2	2783	2	CEP152	15	49059316	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4658	49059316	53472076	14851	16997											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000325747.5_Missense_Mutation_p.D480Y|CEP152_ENST00000559398.1_5'UTR	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													72	419					1.00246e-47	1.23503e-47	1	1	0	A	49064749	C	A	49064749	3	1	22	1	0	0	0	0	1	0	0	0	3270	913	32	2	3303	2	CEP152	15	49064749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5433	49064749	53466643	14852	16998											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000325747.5_Silent_p.Q475Q|CEP152_ENST00000559398.1_5'UTR	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													75	435					0	0	1	0	0	C	49064762	T	C	49064762	2	2	22	1	0	0	0	0	0	0	0	1	3270	1838	64	3		3	CEP152	15	49064762	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13	49064762	53466630	14853	16999											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000325747.5_Missense_Mutation_p.R468H|CEP152_ENST00000559398.1_5'UTR	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													73	451					0	0	1	0	0	T	49064784	C	T	49064784	3	4	22	1	0	0	0	0	1	0	0	0	3270	536	19	1	3338	1	CEP152	15	49064784	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	49064784	53466608	14854	17000											
CEP152	22995	broad.mit.edu	37	chr15	49076311	49076311	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctttcagacgagagcaaaTgtcttcctaaatagaaaaaa	6	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49076311T>C	ENST00000380950.2	-	10	1367	c.1180A>G	c.(1180-1182)Att>Gtt	p.I394V	CEP152_ENST00000399334.3_Missense_Mutation_p.I394V|CEP152_ENST00000325747.5_Missense_Mutation_p.I301V|RP11-485O10.2_ENST00000558304.1_RNA	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	394					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)		CGAGAGCAAATGTCTTCCTAA	0.294													34	116					0	0	1	0	0	C	49076311	T	C	49076311	3	2	22	1	0	0	0	0	1	0	0	0	3270	1464	51	3	3852	3	CEP152	15	49076311	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11527	49076311	53455081	14855	17001											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	571					0	0	1	0	0	T	49081138	C	T	49081138	3	4	22	1	0	0	0	0	1	0	0	0	3270	855	30	2	4003	2	CEP152	15	49081138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4827	49081138	53450254	14856	17002											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	408					0	0	1	0	0	T	49089912	C	T	49089912	2	4	22	1	0	0	0	0	0	0	0	1	3270	796	28	2		2	CEP152	15	49089912	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8774	49089912	53441480	14857	17003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													143	723					0	0	1	0	0	T	49135605	C	T	49135605	5	4	22	1	0	0	0	0	0	0	1	0	14328	579	20	2	420	2	SHC4	15	49135605	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45693	49135605	53395787	14858	17004											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	1167					7.88262e-20	8.81088e-20	1	1	0	A	49288703	C	A	49288703	3	1	22	1	0	0	0	0	1	0	0	0	14061	796	28	2	829	2	SECISBP2L	15	49288703	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153098	49288703	53242689	14859	17005											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	272					0	0	1	0	0	C	49308835	T	C	49308835	3	2	22	1	0	0	0	0	1	0	0	0	14061	1464	51	3	1854	3	SECISBP2L	15	49308835	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20132	49308835	53222557	14860	17006											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	402					0	0	1	0	0	T	49320695	C	T	49320695	2	4	22	1	0	0	0	0	0	0	0	1	14061	796	28	2		2	SECISBP2L	15	49320695	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11860	49320695	53210697	14861	17007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542928.1_Missense_Mutation_p.R36W|COPS2_ENST00000299259.6_Missense_Mutation_p.R100W	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													29	381					0	0	1	0	0	A	49431799	G	A	49431799	3	1	22	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	14862	17008											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	246					1.1362e-29	1.32843e-29	1	1	0	A	50209130	C	A	50209130	5	1	22	1	0	0	0	0	0	0	1	0	1195	521	18	2	1472	2	ATP8B4	15	50209130	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	777331	50209130	52322262	14863	17009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	143					0	0	1	0	0	T	50339654	C	T	50339654	3	4	22	1	0	0	0	0	1	0	0	0	1195	536	19	1	3583	1	ATP8B4	15	50339654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130524	50339654	52191738	14864	17010											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	239					0	0	1	0	0	T	50534865	C	T	50534865	2	4	22	1	0	0	0	0	0	0	0	1	7056	796	28	2		2	HDC	15	50534865	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195211	50534865	51996527	14865	17011											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	274					0	0	1	0	0	T	50546817	C	T	50546817	2	4	22	1	0	0	0	0	0	0	0	1	7056	854	30	2		2	HDC	15	50546817	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11952	50546817	51984575	14866	17012											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50592987T>C	ENST00000380877.3	-	6	1119	c.697_splice	c.e6+1	p.P232_splice	GABPB1_ENST00000396464.3_Splice_Site_p.P232_splice|GABPB1_ENST00000429662.2_Splice_Site_p.P244_splice|GABPB1_ENST00000359031.4_Splice_Site_p.P232_splice|GABPB1_ENST00000543881.1_Splice_Site_p.P168_splice|GABPB1_ENST00000560825.1_Splice_Site_p.P232_splice|GABPB1_ENST00000220429.8_Splice_Site_p.P244_splice	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													10	297					0	0	1	0	0	C	50592987	T	C	50592987	5	2	22	1	0	0	0	0	0	0	1	0	6193	1594	55	3	519	3	GABPB1	15	50592987	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46170	50592987	51938405	14867	17013											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	NM_001128611.1	NP_001122083.1	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													40	392					0	0	1	0	0	A	50782713	G	A	50782713	3	1	22	1	0	0	0	0	1	0	0	0	17149	1116	39	1	2275	1	USP8	15	50782713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	189726	50782713	51748679	14868	17014											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	USP8_ENST00000425032.3_Silent_p.G715G|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000396444.3_Silent_p.G821G|USP8_ENST00000307179.4_Silent_p.G821G	NM_001128611.1	NP_001122083.1	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													40	316					0	0	1	0	0	A	50786282	G	A	50786282	2	1	22	1	0	0	0	0	0	0	0	1	17149	1190	42	2		2	USP8	15	50786282	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3569	50786282	51745110	14869	17015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	USP8_ENST00000425032.3_Silent_p.D797D|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000396444.3_Silent_p.D903D|USP8_ENST00000307179.4_Silent_p.D903D	NM_001128611.1	NP_001122083.1	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													45	227					0	0	1	0	0	T	50788095	C	T	50788095	2	4	22	1	0	0	0	0	0	0	0	1	17149	564	20	2		2	USP8	15	50788095	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1813	50788095	51743297	14870	17016											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	310					0	0	1	0	0	A	50822088	G	A	50822088	3	1	22	1	0	0	0	0	1	0	0	0	17142	1145	40	1	170	1	USP50	15	50822088	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33993	50822088	51709304	14871	17017											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	204					0	0	1	0	0	C	50901842	A	C	50901842	3	2	22	1	0	0	0	0	1	0	0	0	16652	72	3	3	3165	3	TRPM7	15	50901842	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	79754	50901842	51629550	14872	17018											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	192					0	0	1	0	0	G	50911964	T	G	50911964	3	3	22	1	0	0	0	0	1	0	0	0	16652	1464	51	3	4233	3	TRPM7	15	50911964	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10122	50911964	51619428	14873	17019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	288					0	0	1	0	0	T	51207651	A	T	51207651	3	4	22	1	0	0	0	0	1	0	0	0	748	333	12	5	239	5	AP4E1	15	51207651	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	295687	51207651	51323741	14874	17020											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	428					0	0	1	0	0	A	51223034	G	A	51223034	2	1	22	1	0	0	0	0	0	0	0	1	748	1161	41	2		2	AP4E1	15	51223034	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15383	51223034	51308358	14875	17021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	258					0	0	1	0	0	A	51289963	G	A	51289963	2	1	22	1	0	0	0	0	0	0	0	1	748	1364	48	2		2	AP4E1	15	51289963	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66929	51289963	51241429	14876	17022											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	382					0	0	1	0	0	C	51293263	T	C	51293263	2	2	22	1	0	0	0	0	0	0	0	1	748	1722	60	3		3	AP4E1	15	51293263	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3300	51293263	51238129	14877	17023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	234					7.47603e-22	8.43918e-22	1	1	0	T	51293373	G	T	51293373	3	4	22	1	0	0	0	0	1	0	0	0	748	933	33	2	3324	2	AP4E1	15	51293373	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110	51293373	51238019	14878	17024											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	601					4.09499e-44	5.00728e-44	1	1	0	A	51350473	C	A	51350473	3	1	22	1	0	0	0	0	1	0	0	0	16339	797	28	2	398	2	TNFAIP8L3	15	51350473	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57100	51350473	51180919	14879	17025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|CYP19A1_ENST00000559878.1_Missense_Mutation_p.A73T|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.A73T|CYP19A1_ENST00000405913.3_Missense_Mutation_p.A73T|CYP19A1_ENST00000396404.4_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													120	461					0	0	1	0	0	T	51529135	C	T	51529135	3	4	22	1	0	0	0	0	1	0	0	0	4171	710	25	2	1326	2	CYP19A1	15	51529135	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178662	51529135	51002257	14880	17026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51693790G>T	ENST00000335449.6	+	9	1084	c.1027_splice	c.e9-1	p.G343_splice	GLDN_ENST00000396399.2_Splice_Site_p.G219_splice	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)	42	438					1.30475e-32	1.54167e-32	1	1	0	T	51693790	G	T	51693790	5	4	22	1	0	0	0	0	0	0	1	0	6476	1217	42	2	1062	2	GLDN	15	51693790	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	164655	51693790	50837602	14881	17027											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	616					7.41606e-26	8.52628e-26	1	1	0	A	51696637	C	A	51696637	3	1	22	1	0	0	0	0	1	0	0	0	6476	913	32	2	1380	2	GLDN	15	51696637	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2847	51696637	50834755	14882	17028											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-707P17.2_ENST00000559977.1_RNA|DMXL2_ENST00000543779.2_Silent_p.I2657I|RP11-707P17.1_ENST00000561007.1_RNA|RP11-707P17.2_ENST00000560727.1_RNA|RP11-707P17.2_ENST00000559173.1_RNA|DMXL2_ENST00000449909.3_Silent_p.I2020I	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													66	341					2.69673e-31	3.17273e-31	1	1	0	T	51750948	G	T	51750948	2	4	22	1	0	0	0	0	0	0	0	1	4623	1164	41	2		2	DMXL2	15	51750948	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54311	51750948	50780444	14883	17029											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	578					0	0	1	0	0	T	51772901	C	T	51772901	2	4	22	1	0	0	0	0	0	0	0	1	4623	709	25	2		2	DMXL2	15	51772901	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21953	51772901	50758491	14884	17030											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	502					0	0	1	0	0	T	51791720	C	T	51791720	3	4	22	1	0	0	0	0	1	0	0	0	4623	913	32	2	5516	2	DMXL2	15	51791720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18819	51791720	50739672	14885	17031											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	76					9.95505e-16	1.08957e-15	1	1	0	A	51860756	C	A	51860756	5	1	22	1	0	0	0	0	0	0	1	0	4623	927	32	2	9064	2	DMXL2	15	51860756	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69036	51860756	50670636	14886	17032											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	481					0	0	1	0	0	T	51975574	C	T	51975574	4	4	22	1	0	0	0	0	0	1	0	0	13945	876	31	1	354	1	SCG3	15	51975574	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114818	51975574	50555818	14887	17033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539962.2_5'UTR|TMOD2_ENST00000435126.2_Missense_Mutation_p.L24R	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													9	493					0	0	1	0	0	G	52058709	T	G	52058709	3	3	22	1	0	0	0	0	1	0	0	0	16294	1551	54	3	73	3	TMOD2	15	52058709	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	83135	52058709	50472683	14888	17034											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	714					0	0	1	0	0	T	52338703	C	T	52338703	2	4	22	1	0	0	0	0	0	0	0	1	9331	912	32	2		2	MAPK6	15	52338703	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279994	52338703	50192689	14889	17035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	637					0	0	1	0	0	T	52338767	C	T	52338767	3	4	22	1	0	0	0	0	1	0	0	0	9331	797	28	2	112	2	MAPK6	15	52338767	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64	52338767	50192625	14890	17036											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000358784.7_Missense_Mutation_p.V232M|GNB5_ENST00000396335.4_Missense_Mutation_p.V162M|GNB5_ENST00000559348.1_5'UTR	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													62	361					0	0	1	0	0	T	52425618	C	T	52425618	3	4	22	1	0	0	0	0	1	0	0	0	6563	536	19	1	387	1	GNB5	15	52425618	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86851	52425618	50105774	14891	17037											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	274					0	0	1	0	0	A	52513390	G	A	52513390	2	1	22	1	0	0	0	0	0	0	0	1	10128	1164	41	2		2	MYO5C	15	52513390	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87772	52513390	50018002	14892	17038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	287					2.17126e-26	2.5019e-26	1	1	0	T	52539194	G	T	52539194	4	4	22	1	0	0	0	0	0	1	0	0	10128	1024	36	2	3433	2	MYO5C	15	52539194	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25804	52539194	49992198	14893	17039											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356338.6_Silent_p.L1069L|MYO5A_ENST00000358212.6_Silent_p.L1069L|MYO5A_ENST00000553916.1_Silent_p.L1069L|MYO5A_ENST00000399233.2_Silent_p.L1069L	NM_000259.3	NP_000250.3	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													47	463					0	0	1	0	0	A	52656853	G	A	52656853	2	1	22	1	0	0	0	0	0	0	0	1	10126	1045	37	1		1	MYO5A	15	52656853	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117659	52656853	49874539	14894	17040											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557913.1_Missense_Mutation_p.S1078F|WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000360509.5_Missense_Mutation_p.S1081F|WDR72_ENST00000559418.1_Missense_Mutation_p.S1091F	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													165	858					0	0	1	0	0	A	53815426	G	A	53815426	3	1	22	1	0	0	0	0	1	0	0	0	17382	942	33	2	74	2	WDR72	15	53815426	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1158573	53815426	48715966	14895	17041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557913.1_Missense_Mutation_p.V994I|WDR72_ENST00000360509.5_Missense_Mutation_p.V997I|WDR72_ENST00000559418.1_Missense_Mutation_p.V1007I	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													36	920					0	0	1	0	0	T	53889435	C	T	53889435	3	4	22	1	0	0	0	0	1	0	0	0	17382	565	20	2	331	2	WDR72	15	53889435	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74009	53889435	48641957	14896	17042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557913.1_Missense_Mutation_p.L665S|WDR72_ENST00000360509.5_Missense_Mutation_p.L668S|WDR72_ENST00000559418.1_Missense_Mutation_p.L678S	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													40	207					0	0	1	0	0	G	53908400	A	G	53908400	3	3	22	1	0	0	0	0	1	0	0	0	17382	131	5	3	1329	3	WDR72	15	53908400	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18965	53908400	48622992	14897	17043											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260323.11_Nonsense_Mutation_p.W535*|UNC13C_ENST00000537900.1_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													50	188					0	0	1	0	0	A	54306705	G	A	54306705	4	1	22	1	0	0	0	0	0	1	0	0	17046	1212	42	2	1607	2	UNC13C	15	54306705	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	398305	54306705	48224687	14898	17044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260323.11_Missense_Mutation_p.K964N|UNC13C_ENST00000537900.1_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													20	69					1.22574e-08	1.28258e-08	1	1	0	T	54307992	G	T	54307992	3	4	22	1	0	0	0	0	1	0	0	0	17046	962	34	2	2894	2	UNC13C	15	54307992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1287	54307992	48223400	14899	17045											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260323.11_Missense_Mutation_p.V1047A|UNC13C_ENST00000537900.1_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													38	160					0	0	1	0	0	C	54527296	T	C	54527296	3	2	22	1	0	0	0	0	1	0	0	0	17046	1667	58	3	3154	3	UNC13C	15	54527296	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	219304	54527296	48004096	14900	17046											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260323.11_Silent_p.Q1202Q|UNC13C_ENST00000537900.1_Silent_p.Q1200Q			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													10	53					0	0	1	0	0	A	54556523	G	A	54556523	2	1	22	1	0	0	0	0	0	0	0	1	17046	1020	36	2		2	UNC13C	15	54556523	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29227	54556523	47974869	14901	17047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260323.11_Missense_Mutation_p.G1321E|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1319E			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													131	610					0	0	1	0	0	A	54586236	G	A	54586236	3	1	22	1	0	0	0	0	1	0	0	0	17046	1174	41	2	3996	2	UNC13C	15	54586236	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29713	54586236	47945156	14902	17048											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260323.11_Missense_Mutation_p.D1511N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1509N			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													11	44					0	0	1	0	0	A	54626001	G	A	54626001	3	1	22	1	0	0	0	0	1	0	0	0	17046	942	33	2	4585	2	UNC13C	15	54626001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39765	54626001	47905391	14903	17049											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260323.11_Missense_Mutation_p.T1875P|UNC13C_ENST00000537900.1_Missense_Mutation_p.T1873P			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													9	52					0	0	1	0	0	C	54825191	A	C	54825191	3	2	22	1	0	0	0	0	1	0	0	0	17046	159	6	3	5717	3	UNC13C	15	54825191	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	199190	54825191	47706201	14904	17050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	130					0	0	1	0	0	A	55483181	T	A	55483181	3	1	22	1	0	0	0	0	1	0	0	0	13753	1493	52	5	247	5	RSL24D1	15	55483181	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	657990	55483181	47048211	14905	17051											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000569493.1_Missense_Mutation_p.A152T|RAB27A_ENST00000336787.1_Missense_Mutation_p.A152T|RAB27A_ENST00000564609.1_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													212	1040					0	0	1	0	0	T	55516100	C	T	55516100	3	4	22	1	0	0	0	0	1	0	0	0	12966	768	27	1	219	1	RAB27A	15	55516100	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32919	55516100	47015292	14906	17052											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	60					1.49906e-05	1.53515e-05	1	1	0	A	55613553	C	A	55613553	3	1	22	1	0	0	0	0	1	0	0	0	11933	913	32	2	392	2	PIGB	15	55613553	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97453	55613553	46917839	14907	17053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	387					0	0	1	0	0	T	55912364	C	T	55912364	3	4	22	1	0	0	0	0	1	0	0	0	12687	797	28	2	157	2	PRTG	15	55912364	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	298811	55912364	46619028	14908	17054											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	442					8.28177e-16	9.06825e-16	1	1	0	A	55964693	C	A	55964693	3	1	22	1	0	0	0	0	1	0	0	0	12687	623	22	2	1501	2	PRTG	15	55964693	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52329	55964693	46566699	14909	17055											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	283					0	0	1	0	0	T	55964735	C	T	55964735	3	4	22	1	0	0	0	0	1	0	0	0	12687	739	26	2	1543	2	PRTG	15	55964735	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42	55964735	46566657	14910	17056											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	518					0	0	1	0	0	T	55965763	C	T	55965763	3	4	22	1	0	0	0	0	1	0	0	0	12687	768	27	1	1838	1	PRTG	15	55965763	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1028	55965763	46565629	14911	17057											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	131					6.00712e-18	6.65163e-18	1	1	0	A	55972411	C	A	55972411	5	1	22	1	0	0	0	0	0	0	1	0	12687	927	32	2	2698	2	PRTG	15	55972411	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6648	55972411	46558981	14912	17058											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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													57	594					0	0	1	0	0	A	56132913	G	A	56132913	2	1	22	1	0	0	0	0	0	0	0	1	10357	1219	43	2		2	NEDD4	15	56132913	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	160502	56132913	46398479	14913	17059											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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													36	178					2.05212e-20	2.2997e-20	1	1	0	A	56139215	C	A	56139215	3	1	22	1	0	0	0	0	1	0	0	0	10357	622	22	2	1190	2	NEDD4	15	56139215	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6302	56139215	46392177	14914	17060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000559447.2_Missense_Mutation_p.T1252I|RFX7_ENST00000422057.1_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													28	166					0	0	1	0	0	A	56385880	G	A	56385880	3	1	22	1	0	0	0	0	1	0	0	0	13320	1029	36	2	340	2	RFX7	15	56385880	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	246665	56385880	46145512	14915	17061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000559447.2_Missense_Mutation_p.A432V|RFX7_ENST00000422057.1_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													30	105					0	0	1	0	0	A	56388340	G	A	56388340	3	1	22	1	0	0	0	0	1	0	0	0	13320	1087	38	1	2800	1	RFX7	15	56388340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2460	56388340	46143052	14916	17062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	322					0	0	1	0	0	G	56923986	A	G	56923986	2	3	22	1	0	0	0	0	0	0	0	1	17875	11	1	3		3	ZNF280D	15	56923986	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	535646	56923986	45607406	14917	17063											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000559000.1_Missense_Mutation_p.E619K|ZNF280D_ENST00000267807.7_Missense_Mutation_p.E632K|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													85	358					0	0	1	0	0	T	56958693	C	T	56958693	3	4	22	1	0	0	0	0	1	0	0	0	17875	893	31	1	1073	1	ZNF280D	15	56958693	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34707	56958693	45572699	14918	17064											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000559000.1_Missense_Mutation_p.Y144C|ZNF280D_ENST00000267807.7_Missense_Mutation_p.Y157C|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													44	209					0	0	1	0	0	C	56985325	T	C	56985325	3	2	22	1	0	0	0	0	1	0	0	0	17875	1638	57	3	2533	3	ZNF280D	15	56985325	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26632	56985325	45546067	14919	17065											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	198					0	0	1	0	0	A	57731164	G	A	57731164	3	1	22	1	0	0	0	0	1	0	0	0	3326	1319	46	2	969	2	CGNL1	15	57731164	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	745839	57731164	44800228	14920	17066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	242					0	0	1	0	0	C	57754064	A	C	57754064	2	2	22	1	0	0	0	0	0	0	0	1	3326	295	11	3		3	CGNL1	15	57754064	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22900	57754064	44777328	14921	17067											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	MYZAP_ENST00000267853.5_Nonsense_Mutation_p.R130*|MYZAP_ENST00000380565.4_Nonsense_Mutation_p.R130*|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000380568.3_Nonsense_Mutation_p.R130*|GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.R130*|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.R130*|GCOM1_ENST00000396180.1_Intron|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													51	251					0	0	1	0	0	T	57913875	C	T	57913875	4	4	22	1	0	0	0	0	0	1	0	0	6345	876	31	1	402	1	GCOM1	15	57913875	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159811	57913875	44617517	14922	17068											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396140.2_3'UTR|ADAM10_ENST00000260408.3_3'UTR|ADAM10_ENST00000561288.1_Missense_Mutation_p.P31H			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													5	106					3.59834e-05	3.67436e-05	1	1	0	T	58889681	G	T	58889681	3	4	22	1	0	0	0	0	1	0	0	0	233	1015	35	2		2	ADAM10	15	58889681	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	975806	58889681	43641711	14923	17069											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000561288.1_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													5	201					0	0	1	0	0	T	58974499	C	T	58974499	3	4	22	1	0	0	0	0	1	0	0	0	233	884	31	1	2081	1	ADAM10	15	58974499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84818	58974499	43556893	14924	17070											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	205					1.36161e-19	1.52027e-19	1	1	0	A	59064120	C	A	59064120	3	1	22	1	0	0	0	0	1	0	0	0	5632	912	32	2	528	2	FAM63B	15	59064120	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89621	59064120	43467272	14925	17071											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000559209.1_Silent_p.D260D|RNF111_ENST00000561186.1_Silent_p.D260D|RNF111_ENST00000434298.1_Silent_p.D260D|RNF111_ENST00000557998.1_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													96	515					0	0	1	0	0	T	59323801	C	T	59323801	2	4	22	1	0	0	0	0	0	0	0	1	13477	506	18	2		2	RNF111	15	59323801	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	259681	59323801	43207591	14926	17072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000559209.1_Silent_p.S334S|RNF111_ENST00000561186.1_Silent_p.S334S|RNF111_ENST00000434298.1_Silent_p.S334S|RNF111_ENST00000557998.1_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													71	271					0	0	1	0	0	T	59344625	C	T	59344625	2	4	22	1	0	0	0	0	0	0	0	1	13477	796	28	2		2	RNF111	15	59344625	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20824	59344625	43186767	14927	17073											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000559209.1_Missense_Mutation_p.Q632H|RNF111_ENST00000561186.1_Missense_Mutation_p.Q632H|RNF111_ENST00000434298.1_Missense_Mutation_p.Q632H|RNF111_ENST00000557998.1_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													124	670					2.82925e-58	3.54705e-58	1	1	0	T	59368362	G	T	59368362	3	4	22	1	0	0	0	0	1	0	0	0	13477	962	34	2	1918	2	RNF111	15	59368362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23737	59368362	43163030	14928	17074											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	261					0	0	1	0	0	A	59399591	G	A	59399591	3	1	22	1	0	0	0	0	1	0	0	0	2935	1058	37	1	101	1	CCNB2	15	59399591	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31229	59399591	43131801	14929	17075											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000607373.1_Silent_p.V172V|BNIP2_ENST00000415213.2_Silent_p.V234V			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													40	257					0	0	1	0	0	A	59964895	G	A	59964895	2	1	22	1	0	0	0	0	0	0	0	1	1476	929	33	2		2	BNIP2	15	59964895	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	565304	59964895	42566497	14930	17076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	102					0	0	1	0	0	T	60297560	C	T	60297560	3	4	22	1	0	0	0	0	1	0	0	0	6025	739	26	2	400	2	FOXB1	15	60297560	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	332665	60297560	42233832	14931	17077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	289					0	0	1	0	0	G	60720793	T	G	60720793	2	3	22	1	0	0	0	0	0	0	0	1	10217	1451	51	3		3	NARG2	15	60720793	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	423233	60720793	41810599	14932	17078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	112					0	0	1	0	0	A	60724161	G	A	60724161	3	1	22	1	0	0	0	0	1	0	0	0	10217	1000	35	2	427	2	NARG2	15	60724161	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3368	60724161	41807231	14933	17079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													144	530					0	0	1	0	0	G	60741867	T	G	60741867	2	3	22	1	0	0	0	0	0	0	0	1	10217	1567	55	3		3	NARG2	15	60741867	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17706	60741867	41789525	14934	17080											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	208					0	0	1	0	0	C	60748989	A	C	60748989	3	2	22	1	0	0	0	0	1	0	0	0	10217	101	4	3	2459	3	NARG2	15	60748989	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7122	60748989	41782403	14935	17081											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RORA_ENST00000261523.5_Missense_Mutation_p.N235D|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.N227D|RP11-219B17.1_ENST00000559902.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.N147D|RP11-219B17.1_ENST00000501579.2_RNA	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													52	611					0	0	1	0	0	C	60803641	T	C	60803641	3	2	22	1	0	0	0	0	1	0	0	0	13580	1754	61	3	995	3	RORA	15	60803641	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	54652	60803641	41727751	14936	17082											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395898.3_Missense_Mutation_p.K3479N|VPS13C_ENST00000395896.4_Missense_Mutation_p.K3522N|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													211	877					9.03655e-77	1.15342e-76	1	1	0	A	62165457	C	A	62165457	3	1	22	1	0	0	0	0	1	0	0	0	17251	680	24	2	755	2	VPS13C	15	62165457	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1361816	62165457	40365935	14937	17083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395898.3_Missense_Mutation_p.E853K|VPS13C_ENST00000395896.4_Missense_Mutation_p.E896K|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													76	375					0	0	1	0	0	T	62264895	C	T	62264895	3	4	22	1	0	0	0	0	1	0	0	0	17251	922	32	2	8839	2	VPS13C	15	62264895	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99438	62264895	40266497	14938	17084											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395898.3_Missense_Mutation_p.R411L|VPS13C_ENST00000395896.4_Missense_Mutation_p.R454L|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													77	622					3.1711e-36	3.79393e-36	1	1	0	A	62283994	C	A	62283994	3	1	22	1	0	0	0	0	1	0	0	0	17251	652	23	4	10204	4	VPS13C	15	62283994	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19099	62283994	40247398	14939	17085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	207					0	0	1	0	0	T	63019326	C	T	63019326	3	4	22	1	0	0	0	0	1	0	0	0	16008	768	27	1	3394	1	TLN2	15	63019326	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	735332	63019326	39512066	14940	17086											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000559908.1_3'UTR|TLN2_ENST00000306829.6_Silent_p.L1175L			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													20	235					0	0	1	0	0	T	63029241	C	T	63029241	2	4	22	1	0	0	0	0	0	0	0	1	16008	680	24	2		2	TLN2	15	63029241	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9915	63029241	39502151	14941	17087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	207					9.59835e-30	1.1228e-29	1	1	0	A	63084884	C	A	63084884	2	1	22	1	0	0	0	0	0	0	0	1	16008	784	28	2		2	TLN2	15	63084884	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55643	63084884	39446508	14942	17088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357980.4_Intron|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000334895.5_Intron|TPM1_ENST00000317516.7_Intron|TPM1_ENST00000403994.3_Silent_p.L260L|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000559281.1_Silent_p.L224L|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000404484.4_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													22	126					0	0	1	0	0	T	63356268	C	T	63356268	2	4	22	1	0	0	0	0	0	0	0	1	16466	796	28	2		2	TPM1	15	63356268	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271384	63356268	39175124	14943	17089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	189					0	0	1	0	0	T	63551873	C	T	63551873	2	4	22	1	0	0	0	0	0	0	0	1	13009	581	21	2		2	RAB8B	15	63551873	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195605	63551873	38979519	14944	17090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	331					0	0	1	0	0	T	63916522	C	T	63916522	3	4	22	1	0	0	0	0	1	0	0	0	7098	797	28	2	1333	2	HERC1	15	63916522	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	364649	63916522	38614870	14945	17091											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	211					0	0	1	0	0	C	63920906	T	C	63920906	3	2	22	1	0	0	0	0	1	0	0	0	7098	1667	58	3	1546	3	HERC1	15	63920906	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4384	63920906	38610486	14946	17092											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	84					0	0	1	0	0	A	63935242	G	A	63935242	4	1	22	1	0	0	0	0	0	1	0	0	7098	1328	46	2	3318	2	HERC1	15	63935242	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14336	63935242	38596150	14947	17093											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	464					0	0	1	0	0	T	63967220	C	T	63967220	2	4	22	1	0	0	0	0	0	0	0	1	7098	639	23	1		1	HERC1	15	63967220	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31978	63967220	38564172	14948	17094											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	144					0	0	1	0	0	G	64017505	T	G	64017505	3	3	22	1	0	0	0	0	1	0	0	0	7098	1667	58	3	11275	3	HERC1	15	64017505	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	50285	64017505	38513887	14949	17095											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	200					0	0	1	0	0	T	64019960	C	T	64019960	3	4	22	1	0	0	0	0	1	0	0	0	7098	739	26	2	11601	2	HERC1	15	64019960	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2455	64019960	38511432	14950	17096											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	425					0	0	1	0	0	T	64025296	C	T	64025296	3	4	22	1	0	0	0	0	1	0	0	0	7098	536	19	1	12150	1	HERC1	15	64025296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5336	64025296	38506096	14951	17097											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	171					0	0	1	0	0	T	64050478	C	T	64050478	3	4	22	1	0	0	0	0	1	0	0	0	7098	835	29	2	13768	2	HERC1	15	64050478	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25182	64050478	38480914	14952	17098											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	110					0	0	1	0	0	A	64380897	G	A	64380897	3	1	22	1	0	0	0	0	1	0	0	0	5687	1087	38	1	220	1	FAM96A	15	64380897	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	330419	64380897	38150495	14953	17099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000561026.1_Missense_Mutation_p.Q86H|SNX1_ENST00000560829.1_5'UTR|SNX1_ENST00000559844.1_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													31	134					7.63505e-26	8.77765e-26	1	1	0	T	64404870	G	T	64404870	3	4	22	1	0	0	0	0	1	0	0	0	14934	991	35	2	264	2	SNX1	15	64404870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23973	64404870	38126522	14954	17100											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	668					0	0	1	0	0	T	64915077	C	T	64915077	3	4	22	1	0	0	0	0	1	0	0	0	18092	739	26	2	805	2	ZNF609	15	64915077	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	510207	64915077	37616315	14955	17101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	321					0	0	1	0	0	T	64962610	C	T	64962610	4	4	22	1	0	0	0	0	0	1	0	0	18092	528	19	1	1049	1	ZNF609	15	64962610	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47533	64962610	37568782	14956	17102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000559239.1_Missense_Mutation_p.A460T|PIF1_ENST00000333425.6_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													8	151					0	0	1	0	0	T	65111378	C	T	65111378	3	4	22	1	0	0	0	0	1	0	0	0	11931	739	26	2	567	2	PIF1	15	65111378	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148768	65111378	37420014	14957	17103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000559239.1_Missense_Mutation_p.Q429H|PIF1_ENST00000333425.6_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													18	373					6.94344e-10	7.33246e-10	1	1	0	A	65112092	C	A	65112092	3	1	22	1	0	0	0	0	1	0	0	0	11931	680	24	2	662	2	PIF1	15	65112092	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	714	65112092	37419300	14958	17104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	276					0	0	1	0	0	T	65157620	C	T	65157620	3	4	22	1	0	0	0	0	1	0	0	0	12133	855	30	2	1028	2	PLEKHO2	15	65157620	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45528	65157620	37373772	14959	17105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	162					5.01169e-05	5.1097e-05	1	1	0	T	65236895	G	T	65236895	3	4	22	1	0	0	0	0	1	0	0	0	620	971	34	2	1158	2	ANKDD1A	15	65236895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79275	65236895	37294497	14960	17106											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	108					0	0	1	0	0	A	65316129	G	A	65316129	2	1	22	1	0	0	0	0	0	0	0	1	9972	1306	46	2		2	MTFMT	15	65316129	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79234	65316129	37215263	14961	17107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	456					0	0	1	0	0	T	65448058	C	T	65448058	3	4	22	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	14962	17108											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	157					0	0	1	0	0	T	65555562	C	T	65555562	3	4	22	1	0	0	0	0	1	0	0	0	11507	652	23	1	367	1	PARP16	15	65555562	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107504	65555562	36975830	14963	17109											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	82					0	0	1	0	0	A	65578689	G	A	65578689	3	1	22	1	0	0	0	0	1	0	0	0	11507	1000	35	2	919	2	PARP16	15	65578689	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23127	65578689	36952703	14964	17110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	138					6.1207e-33	7.24336e-33	1	1	0	T	65623869	G	T	65623869	3	4	22	1	0	0	0	0	1	0	0	0	7612	1000	35	2	1195	2	IGDCC3	15	65623869	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45180	65623869	36907523	14965	17111											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	12	60					0	0	1	0	0	T	65678349	C	T	65678349	2	4	22	1	0	0	0	0	0	0	0	1	7613	755	27	1		1	IGDCC4	15	65678349	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54480	65678349	36853043	14966	17112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	277					4.01344e-20	4.48984e-20	1	1	0	T	65682504	G	T	65682504	2	4	22	1	0	0	0	0	0	0	0	1	7613	987	35	2		2	IGDCC4	15	65682504	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4155	65682504	36848888	14967	17113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	55					0	0	1	0	0	A	65688258	G	A	65688258	3	1	22	1	0	0	0	0	1	0	0	0	7613	1087	38	1	2567	1	IGDCC4	15	65688258	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5754	65688258	36843134	14968	17114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	43					0	0	1	0	0	A	65688350	G	A	65688350	2	1	22	1	0	0	0	0	0	0	0	1	7613	1161	41	2		2	IGDCC4	15	65688350	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92	65688350	36843042	14969	17115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	21					0	0	1	0	0	T	65694733	C	T	65694733	3	4	22	1	0	0	0	0	1	0	0	0	7613	768	27	1	3164	1	IGDCC4	15	65694733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6383	65694733	36836659	14970	17116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537259.1_Missense_Mutation_p.A497T|SLC24A1_ENST00000339868.6_Missense_Mutation_p.A497T|SLC24A1_ENST00000544319.2_Missense_Mutation_p.A497T|SLC24A1_ENST00000546330.1_Missense_Mutation_p.A497T|SLC24A1_ENST00000399033.4_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													114	333					0	0	1	0	0	A	65917907	G	A	65917907	3	1	22	1	0	0	0	0	1	0	0	0	14520	1087	38	1		1	SLC24A1	15	65917907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	223174	65917907	36613485	14971	17117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537259.1_Missense_Mutation_p.L628I|SLC24A1_ENST00000339868.6_Missense_Mutation_p.L628I|SLC24A1_ENST00000544319.2_Missense_Mutation_p.L628I|SLC24A1_ENST00000546330.1_Missense_Mutation_p.L628I|SLC24A1_ENST00000399033.4_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													74	346					4.01556e-35	4.78946e-35	1	1	0	A	65918300	C	A	65918300	3	1	22	1	0	0	0	0	1	0	0	0	14520	681	24	2		2	SLC24A1	15	65918300	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	393	65918300	36613092	14972	17118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	182					1.51926e-22	1.72e-22	1	1	0	A	65962264	C	A	65962264	5	1	22	1	0	0	0	0	0	0	1	0	4461	927	32	2	1111	2	DENND4A	15	65962264	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43964	65962264	36569128	14973	17119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000567323.1_5'UTR|DENND4A_ENST00000431932.2_Missense_Mutation_p.W1337C	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													25	155					1.66031e-10	1.76115e-10	1	1	0	A	65982789	C	A	65982789	3	1	22	1	0	0	0	0	1	0	0	0	4461	508	18	2	1624	2	DENND4A	15	65982789	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20525	65982789	36548603	14974	17120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	73					6.31663e-08	6.57865e-08	1	1	0	T	66007885	G	T	66007885	3	4	22	1	0	0	0	0	1	0	0	0	4461	1281	45	2	3916	2	DENND4A	15	66007885	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25096	66007885	36523507	14975	17121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	326					0	0	1	0	0	G	66031062	A	G	66031062	2	3	22	1	0	0	0	0	0	0	0	1	4461	175	7	3		3	DENND4A	15	66031062	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23177	66031062	36500330	14976	17122											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	85					0	0	1	0	0	T	66044893	C	T	66044893	3	4	22	1	0	0	0	0	1	0	0	0	4461	768	27	1	5455	1	DENND4A	15	66044893	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13831	66044893	36486499	14977	17123											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000569896.1_Missense_Mutation_p.R140S|RAB11A_ENST00000565075.1_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													98	506					0	0	1	0	0	T	66170283	A	T	66170283	3	4	22	1	0	0	0	0	1	0	0	0	12943	301	11	5	430	5	RAB11A	15	66170283	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	125390	66170283	36361109	14978	17124											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360698.4_3'UTR|MEGF11_ENST00000395625.2_Missense_Mutation_p.A960V|MEGF11_ENST00000422354.1_Missense_Mutation_p.A1035V|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													78	373					0	0	1	0	0	A	66190303	G	A	66190303	3	1	22	1	0	0	0	0	1	0	0	0	9511	1203	42	2	34	2	MEGF11	15	66190303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20020	66190303	36341089	14979	17125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360698.4_3'UTR|MEGF11_ENST00000395625.2_Missense_Mutation_p.D939N|MEGF11_ENST00000422354.1_Missense_Mutation_p.D1014N|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													44	219					0	0	1	0	0	T	66190367	C	T	66190367	3	4	22	1	0	0	0	0	1	0	0	0	9511	884	31	1	98	1	MEGF11	15	66190367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64	66190367	36341025	14980	17126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	DIS3L_ENST00000441424.2_Silent_p.D183D|DIS3L_ENST00000319212.4_Silent_p.D317D|RP11-352G18.2_ENST00000565993.1_RNA	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													9	365					0	0	1	0	0	T	66607510	C	T	66607510	2	4	22	1	0	0	0	0	0	0	0	1	4564	535	19	1		1	DIS3L	15	66607510	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	417143	66607510	35923882	14981	17127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_060328.2	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													34	344					0	0	1	0	0	T	66633578	C	T	66633578	3	4	22	1	0	0	0	0	1	0	0	0	15985	922	32	2	321	2	TIPIN	15	66633578	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26068	66633578	35897814	14982	17128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	294					0	0	1	0	0	C	66729129	A	C	66729129	2	2	22	1	0	0	0	0	0	0	0	1	9286	63	3	3		3	MAP2K1	15	66729129	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	95551	66729129	35802263	14983	17129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	284					0	0	1	0	0	T	66791951	C	T	66791951	3	4	22	1	0	0	0	0	1	0	0	0	13647	739	26	2	209	2	RPL4	15	66791951	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62822	66791951	35739441	14984	17130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	346					0	0	1	0	0	T	66793365	C	T	66793365	4	4	22	1	0	0	0	0	0	1	0	0	13647	595	21	2	544	2	RPL4	15	66793365	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1414	66793365	35738027	14985	17131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	209					3.32936e-07	3.45006e-07	1	1	0	A	66794186	C	A	66794186	3	1	22	1	0	0	0	0	1	0	0	0	13647	912	32	2	821	2	RPL4	15	66794186	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	821	66794186	35737206	14986	17132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000565960.1_3'UTR|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000446801.2_5'UTR|RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000565627.1_5'UTR|ZWILCH_ENST00000535141.2_5'UTR	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													35	190					0	0	1	0	0	T	66807941	C	T	66807941	2	4	22	1	0	0	0	0	0	0	0	1	18288	755	27	1		1	ZWILCH	15	66807941	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13755	66807941	35723451	14987	17133											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000446801.2_Missense_Mutation_p.A112T|RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000565627.1_Missense_Mutation_p.A112T|ZWILCH_ENST00000535141.2_Missense_Mutation_p.A112T	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													30	1521					0	0	1	0	0	A	66813472	G	A	66813472	3	1	22	1	0	0	0	0	1	0	0	0	18288	1087	38	1	702	1	ZWILCH	15	66813472	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5531	66813472	35717920	14988	17134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	720					7.93312e-07	8.20014e-07	1	1	0	A	66844115	C	A	66844115	3	1	22	1	0	0	0	0	1	0	0	0	8733	913	32	2	306	2	LCTL	15	66844115	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30643	66844115	35687277	14989	17135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000563438.1_5'UTR|LCTL_ENST00000537670.1_Intron	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													78	286					0	0	1	0	0	A	66857032	G	A	66857032	2	1	22	1	0	0	0	0	0	0	0	1	8733	1136	40	1		1	LCTL	15	66857032	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12917	66857032	35674360	14990	17136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													149	676					0	0	1	0	0	T	67524224	C	T	67524224	3	4	22	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	14991	17137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360277.4_Missense_Mutation_p.R200M|IQCH_ENST00000358767.3_Missense_Mutation_p.R275M|IQCH_ENST00000546225.1_Missense_Mutation_p.R196M	NM_001031715.2	NP_001026885.1	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													73	317					5.00163e-47	6.15206e-47	1	1	0	T	67665742	G	T	67665742	3	4	22	1	0	0	0	0	1	0	0	0	7855	1000	35	2	1509	2	IQCH	15	67665742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141518	67665742	34865650	14992	17138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360277.4_Silent_p.I583I|IQCH_ENST00000358767.3_Silent_p.I658I|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Silent_p.I579I	NM_001031715.2	NP_001026885.1	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													70	251					2.18329e-32	2.57781e-32	1	1	0	A	67768123	C	A	67768123	2	1	22	1	0	0	0	0	0	0	0	1	7855	903	32	2		2	IQCH	15	67768123	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102381	67768123	34763269	14993	17139											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	338					2.54232e-27	2.94239e-27	1	1	0	T	68479934	G	T	68479934	3	4	22	1	0	0	0	0	1	0	0	0	11923	942	33	2	1771	2	PIAS1	15	68479934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	711811	68479934	34051458	14994	17140											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	275					0	0	1	0	0	A	68479978	G	A	68479978	2	1	22	1	0	0	0	0	0	0	0	1	11923	933	33	2		2	PIAS1	15	68479978	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44	68479978	34051414	14995	17141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000418702.2_Missense_Mutation_p.L131I|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000538696.1_Missense_Mutation_p.L292I|CLN6_ENST00000566347.1_Missense_Mutation_p.L197I|CLN6_ENST00000565471.1_Missense_Mutation_p.L107I	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													13	652					5.50884e-06	5.65664e-06	1	1	0	T	68500636	G	T	68500636	3	4	22	1	0	0	0	0	1	0	0	0	3568	1000	35	2	161	2	CLN6	15	68500636	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20658	68500636	34030756	14996	17142											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000418702.2_Silent_p.F110F|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000538696.1_Silent_p.F271F|CLN6_ENST00000566347.1_Silent_p.F176F|CLN6_ENST00000564752.1_3'UTR|CLN6_ENST00000565471.1_Silent_p.F86F	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													58	312					0	0	1	0	0	A	68500697	G	A	68500697	2	1	22	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	14997	17143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000566799.1_Missense_Mutation_p.R18Q|CORO2B_ENST00000540068.1_Missense_Mutation_p.R13Q|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													42	169					0	0	1	0	0	A	68937536	G	A	68937536	3	1	22	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	14998	17144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69006382T>C	ENST00000543950.1	+	6	1104		c.e6+2		CORO2B_ENST00000566799.1_Splice_Site|CORO2B_ENST00000540068.1_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													8	199					0	0	1	0	0	C	69006382	T	C	69006382	5	2	22	1	0	0	0	0	0	0	1	0	3780	1681	58	3	789	3	CORO2B	15	69006382	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	68846	69006382	33525010	14999	17145											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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	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													64	230					0	0	1	0	0	G	69238882	A	G	69238882	3	3	22	1	0	0	0	0	1	0	0	0	15096	449	16	3	1015	3	SPESP1	15	69238882	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	232500	69238882	33292510	15000	17146											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000455873.3_Silent_p.G104G|NOX5_ENST00000388866.3_Silent_p.G139G|NOX5_ENST00000448182.3_Silent_p.G93G|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													37	162					1.836e-18	2.03801e-18	1	1	0	A	69323949	C	A	69323949	2	1	22	1	0	0	0	0	0	0	0	1	10606	784	28	2		2	NOX5	15	69323949	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85067	69323949	33207443	15001	17147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000455873.3_Missense_Mutation_p.M166T|NOX5_ENST00000388866.3_Missense_Mutation_p.M201T|NOX5_ENST00000448182.3_Missense_Mutation_p.M155T|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													20	93					0	0	1	0	0	C	69324134	T	C	69324134	3	2	22	1	0	0	0	0	1	0	0	0	10606	1464	51	3	649	3	NOX5	15	69324134	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	185	69324134	33207258	15002	17148											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000455873.3_Silent_p.H214H|NOX5_ENST00000388866.3_Silent_p.H249H|NOX5_ENST00000448182.3_Silent_p.H203H|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													20	44					0	0	1	0	0	T	69325509	C	T	69325509	2	4	22	1	0	0	0	0	0	0	0	1	10606	535	19	1		1	NOX5	15	69325509	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1375	69325509	33205883	15003	17149											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000455873.3_Silent_p.G716G|NOX5_ENST00000388866.3_Silent_p.G751G|NOX5_ENST00000448182.3_Silent_p.G705G|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													67	239					0	0	1	0	0	T	69348991	C	T	69348991	2	4	22	1	0	0	0	0	0	0	0	1	10606	726	26	2		2	NOX5	15	69348991	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23482	69348991	33182401	15004	17150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537891.1_Missense_Mutation_p.K125T|KIF23_ENST00000352331.4_Missense_Mutation_p.K308T|KIF23_ENST00000558585.1_Missense_Mutation_p.K125T|KIF23_ENST00000395392.2_Missense_Mutation_p.K308T|KIF23_ENST00000559279.1_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													238	925					0	0	1	0	0	C	69718750	A	C	69718750	3	2	22	1	0	0	0	0	1	0	0	0	8333	14	1	3	957	3	KIF23	15	69718750	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	369759	69718750	32812642	15005	17151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537891.1_Missense_Mutation_p.K383T|KIF23_ENST00000352331.4_Missense_Mutation_p.K566T|KIF23_ENST00000558585.1_Missense_Mutation_p.K383T|KIF23_ENST00000395392.2_Missense_Mutation_p.K566T|KIF23_ENST00000559279.1_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													10	252					0	0	1	0	0	C	69730728	A	C	69730728	3	2	22	1	0	0	0	0	1	0	0	0	8333	14	1	3	1755	3	KIF23	15	69730728	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11978	69730728	32800664	15006	17152											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70353110C>T	ENST00000442299.2	-	8	1697	c.577_splice	c.e8-1	p.E193_splice	TLE3_ENST00000560589.1_Intron|TLE3_ENST00000558201.1_Intron|TLE3_ENST00000557907.1_Intron|TLE3_ENST00000451782.2_Intron|TLE3_ENST00000557997.1_Intron|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000558379.1_Intron|TLE3_ENST00000558939.1_Intron|TLE3_ENST00000560939.1_Intron|TLE3_ENST00000559929.1_Intron|TLE3_ENST00000559048.1_Intron|TLE3_ENST00000440567.3_Intron|TLE3_ENST00000539550.1_Intron|TLE3_ENST00000317509.8_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													7	37					0	0	1	0	0	T	70353110	C	T	70353110	5	4	22	1	0	0	0	0	0	0	1	0	16000	928	32	2		2	TLE3	15	70353110	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	622382	70353110	32178282	15007	17153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442299.2_Missense_Mutation_p.D190N|TLE3_ENST00000560589.1_Missense_Mutation_p.D134N|TLE3_ENST00000558201.1_Missense_Mutation_p.D196N|TLE3_ENST00000557907.1_Missense_Mutation_p.D190N|TLE3_ENST00000451782.2_Missense_Mutation_p.D190N|TLE3_ENST00000557997.1_Missense_Mutation_p.D190N|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000558379.1_Missense_Mutation_p.D190N|TLE3_ENST00000560939.1_Missense_Mutation_p.D195N|TLE3_ENST00000559929.1_Missense_Mutation_p.D200N|TLE3_ENST00000559048.1_Missense_Mutation_p.D195N|TLE3_ENST00000440567.3_Missense_Mutation_p.D183N|TLE3_ENST00000539550.1_Missense_Mutation_p.D134N|TLE3_ENST00000317509.8_Missense_Mutation_p.D190N			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													35	201					0	0	1	0	0	T	70358362	C	T	70358362	3	4	22	1	0	0	0	0	1	0	0	0	16000	884	31	1	1806	1	TLE3	15	70358362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5252	70358362	32173030	15008	17154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	211					0	0	1	0	0	C	70969475	A	C	70969475	3	2	22	1	0	0	0	0	1	0	0	0	16885	43	2	3	3278	3	UACA	15	70969475	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	611113	70969475	31561917	15009	17155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	200					1.49906e-05	1.53515e-05	1	1	0	A	70970491	C	A	70970491	4	1	22	1	0	0	0	0	0	1	0	0	16885	922	32	2	3340	2	UACA	15	70970491	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1016	70970491	31560901	15010	17156											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	155					0	0	1	0	0	T	70970515	C	T	70970515	3	4	22	1	0	0	0	0	1	0	0	0	16885	922	32	2	3364	2	UACA	15	70970515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24	70970515	31560877	15011	17157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	281					0	0	1	0	0	A	71174954	G	A	71174954	2	1	22	1	0	0	0	0	0	0	0	1	15902	1020	36	2		2	THAP10	15	71174954	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	204439	71174954	31356438	15012	17158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436542.2_3'UTR|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000544974.2_Silent_p.S35S|LRRC49_ENST00000443425.2_5'UTR|LRRC49_ENST00000560369.1_Silent_p.S50S	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													56	206					0	0	1	0	0	A	71188217	G	A	71188217	2	1	22	1	0	0	0	0	0	0	0	1	9051	1132	40	1		1	LRRC49	15	71188217	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13263	71188217	31343175	15013	17159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436542.2_3'UTR|LRRC49_ENST00000560691.1_Missense_Mutation_p.W55R|LRRC49_ENST00000544974.2_Missense_Mutation_p.W339R|LRRC49_ENST00000443425.2_Missense_Mutation_p.W305R|LRRC49_ENST00000560369.1_Missense_Mutation_p.W354R|LRRC49_ENST00000560158.2_Missense_Mutation_p.W37R	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													47	185					0	0	1	0	0	C	71276472	T	C	71276472	3	2	22	1	0	0	0	0	1	0	0	0	9051	1696	59	3	1087	3	LRRC49	15	71276472	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88255	71276472	31254920	15014	17160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Silent_p.L702L|THSD4_ENST00000357769.4_Silent_p.L342L			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													65	232					0	0	1	0	0	T	72039244	C	T	72039244	2	4	22	1	0	0	0	0	0	0	0	1	15938	912	32	2		2	THSD4	15	72039244	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	762772	72039244	30492148	15015	17161											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	63					0	0	1	0	0	A	72103910	G	A	72103910	1	1	22	0	1	0	0	0	0	0	0	0	10674	1203	42	2		2	NR2E3	15	72103910	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64666	72103910	30427482	15016	17162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													138	696					7.9951e-93	1.0271e-92	1	1	0	A	72119059	C	A	72119059	3	1	22	1	0	0	0	0	1	0	0	0	10132	912	32	2	141	2	MYO9A	15	72119059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15149	72119059	30412333	15017	17163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	269					0	0	1	0	0	A	72119296	G	A	72119296	2	1	22	1	0	0	0	0	0	0	0	1	10132	1020	36	2		2	MYO9A	15	72119296	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237	72119296	30412096	15018	17164											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	487					0	0	1	0	0	A	72122595	G	A	72122595	3	1	22	1	0	0	0	0	1	0	0	0	10132	1057	37	1	763	1	MYO9A	15	72122595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3299	72122595	30408797	15019	17165											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													145	638					0	0	1	0	0	A	72146772	G	A	72146772	4	1	22	1	0	0	0	0	0	1	0	0	10132	1066	37	1	1386	1	MYO9A	15	72146772	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24177	72146772	30384620	15020	17166											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	496					0	0	1	0	0	T	72146819	A	T	72146819	3	4	22	1	0	0	0	0	1	0	0	0	10132	304	11	5	1433	5	MYO9A	15	72146819	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47	72146819	30384573	15021	17167											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	237					0	0	1	0	0	T	72176078	C	T	72176078	5	4	22	1	0	0	0	0	0	0	1	0	10132	927	32	2	2451	2	MYO9A	15	72176078	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29259	72176078	30355314	15022	17168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424560.1_Silent_p.A1238A|MYO9A_ENST00000566885.1_Silent_p.A858A|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													156	710					0	0	1	0	0	A	72191130	G	A	72191130	2	1	22	1	0	0	0	0	0	0	0	1	10132	1219	43	2		2	MYO9A	15	72191130	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15052	72191130	30340262	15023	17169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424560.1_Nonsense_Mutation_p.Q1146*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.Q766*|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													70	301					0	0	1	0	0	A	72192062	G	A	72192062	4	1	22	1	0	0	0	0	0	1	0	0	10132	1328	46	2	4286	2	MYO9A	15	72192062	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	932	72192062	30339330	15024	17170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424560.1_Missense_Mutation_p.D872N|MYO9A_ENST00000566885.1_Missense_Mutation_p.D492N|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													67	237					0	0	1	0	0	T	72208782	C	T	72208782	3	4	22	1	0	0	0	0	1	0	0	0	10132	913	32	2	5128	2	MYO9A	15	72208782	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16720	72208782	30322610	15025	17171											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MYO9A_ENST00000563542.1_5'UTR|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000444904.1_Missense_Mutation_p.R494Q|MYO9A_ENST00000424560.1_Missense_Mutation_p.R513Q|MYO9A_ENST00000566885.1_Missense_Mutation_p.R108Q|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													105	446					0	0	1	0	0	T	72286859	C	T	72286859	3	4	22	1	0	0	0	0	1	0	0	0	10132	884	31	1	6240	1	MYO9A	15	72286859	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78077	72286859	30244533	15026	17172											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424560.1_Missense_Mutation_p.S181I|MYO9A_ENST00000566885.1_Intron|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													78	294					1.15098e-32	1.36004e-32	1	1	0	A	72338363	C	A	72338363	3	1	22	1	0	0	0	0	1	0	0	0	10132	565	20	2	7268	2	MYO9A	15	72338363	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51504	72338363	30193029	15027	17173											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542035.2_Missense_Mutation_p.S120F|SENP8_ENST00000340912.4_Missense_Mutation_p.S120F|SENP8_ENST00000544171.1_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													68	310					0	0	1	0	0	T	72432323	C	T	72432323	3	4	22	1	0	0	0	0	1	0	0	0	14106	855	30	2	361	2	SENP8	15	72432323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93960	72432323	30099069	15028	17174											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542035.2_Missense_Mutation_p.L205I|SENP8_ENST00000340912.4_Missense_Mutation_p.L205I|SENP8_ENST00000544171.1_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													30	217					3.1745e-13	3.424e-13	1	1	0	A	72432577	C	A	72432577	3	1	22	1	0	0	0	0	1	0	0	0	14106	913	32	2	615	2	SENP8	15	72432577	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	254	72432577	30098815	15029	17175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	395					0	0	1	0	0	T	72455661	C	T	72455661	3	4	22	1	0	0	0	0	1	0	0	0	6791	797	28	2	174	2	GRAMD2	15	72455661	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23084	72455661	30075731	15030	17176											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.M390L			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													27	186					0	0	1	0	0	G	72546819	T	G	72546819	3	3	22	1	0	0	0	0	1	0	0	0	11511	1435	50	3	764	3	PARP6	15	72546819	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	91158	72546819	29984573	15031	17177											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Silent_p.G266G			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													250	1050					0	0	1	0	0	C	72551961	T	C	72551961	2	2	22	1	0	0	0	0	0	0	0	1	11511	1422	50	3		3	PARP6	15	72551961	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5142	72551961	29979431	15032	17178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.D79N			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													27	258					0	0	1	0	0	T	72557756	C	T	72557756	3	4	22	1	0	0	0	0	1	0	0	0	11511	884	31	1	1733	1	PARP6	15	72557756	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5795	72557756	29973636	15033	17179											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543764.2_Silent_p.D18D|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000539635.1_5'UTR|CELF6_ENST00000567083.1_Silent_p.D133D|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													17	97					0	0	1	0	0	A	72582592	G	A	72582592	2	1	22	1	0	0	0	0	0	0	0	1	3242	1252	44	2		2	CELF6	15	72582592	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24836	72582592	29948800	15034	17180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000539635.1_5'UTR|CELF6_ENST00000567083.1_Missense_Mutation_p.P114S|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													15	48					0	0	1	0	0	A	72608191	G	A	72608191	3	1	22	1	0	0	0	0	1	0	0	0	3242	1203	42	2	1149	2	CELF6	15	72608191	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25599	72608191	29923201	15035	17181											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	468					0	0	1	0	0	C	72691241	A	C	72691241	3	2	22	1	0	0	0	0	1	0	0	0	16187	72	3	3	335	3	TMEM202	15	72691241	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	83050	72691241	29840151	15036	17182											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	125					1.55469e-16	1.70887e-16	1	1	0	T	72853880	G	T	72853880	3	4	22	1	0	0	0	0	1	0	0	0	920	971	34	2	816	2	ARIH1	15	72853880	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	162639	72853880	29677512	15037	17183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	405					3.98749e-38	4.80009e-38	1	1	0	T	72875582	G	T	72875582	3	4	22	1	0	0	0	0	1	0	0	0	920	962	34	2	1677	2	ARIH1	15	72875582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21702	72875582	29655810	15038	17184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	1107					5.04308e-16	5.52873e-16	1	1	0	T	72953649	G	T	72953649	3	4	22	1	0	0	0	0	1	0	0	0	6600	933	33	2	639	2	GOLGA6B	15	72953649	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78067	72953649	29577743	15039	17185											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72987519G>T	ENST00000268057.4	+	2	67	c.24_splice	c.e2-1	p.R9_splice	BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_5'UTR|BBS4_ENST00000542334.1_Intron|BBS4_ENST00000395205.2_Splice_Site_p.R17_splice	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				45	215					1.02687e-29	1.20094e-29	1	1	0	T	72987519	G	T	72987519	5	4	22	1	0	0	0	0	0	0	1	0	1337	956	33	2	32	2	BBS4	15	72987519	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33870	72987519	29543873	15040	17186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539603.1_Missense_Mutation_p.K426R|BBS4_ENST00000542334.1_Missense_Mutation_p.K266R|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				13	622					0	0	1	0	0	G	73029167	A	G	73029167	3	3	22	1	0	0	0	0	1	0	0	0	1337	14	1	3	1371	3	BBS4	15	73029167	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41648	73029167	29502225	15041	17187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	225					0	0	1	0	0	A	73045191	G	A	73045191	2	1	22	1	0	0	0	0	0	0	0	1	329	962	34	2		2	ADPGK	15	73045191	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16024	73045191	29486201	15042	17188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000558964.1_Missense_Mutation_p.G137V|NEO1_ENST00000560262.1_Missense_Mutation_p.G137V|NEO1_ENST00000261908.6_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													95	423					1.19196e-48	1.47188e-48	1	1	0	T	73409160	G	T	73409160	3	4	22	1	0	0	0	0	1	0	0	0	10383	1174	41	2	416	2	NEO1	15	73409160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	363969	73409160	29122232	15043	17189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000558964.1_Silent_p.T556T|NEO1_ENST00000560262.1_Silent_p.T556T|NEO1_ENST00000261908.6_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													12	538					0	0	1	0	0	C	73541462	T	C	73541462	2	2	22	1	0	0	0	0	0	0	0	1	10383	1567	55	3		3	NEO1	15	73541462	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	132302	73541462	28989930	15044	17190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000558964.1_Missense_Mutation_p.D623G|NEO1_ENST00000560262.1_Missense_Mutation_p.D623G|NEO1_ENST00000261908.6_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													16	492					0	0	1	0	0	G	73542036	A	G	73542036	3	3	22	1	0	0	0	0	1	0	0	0	10383	333	12	3	1910	3	NEO1	15	73542036	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	574	73542036	28989356	15045	17191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	243					0	0	1	0	0	T	73616569	C	T	73616569	2	4	22	1	0	0	0	0	0	0	0	1	7040	726	26	2		2	HCN4	15	73616569	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74533	73616569	28914823	15046	17192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	317					0	0	1	0	0	T	73621943	C	T	73621943	3	4	22	1	0	0	0	0	1	0	0	0	7040	855	30	2	2070	2	HCN4	15	73621943	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5374	73621943	28909449	15047	17193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	152					0	0	1	0	0	A	73994861	G	A	73994861	2	1	22	1	0	0	0	0	0	0	0	1	3014	1103	39	1		1	CD276	15	73994861	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	372918	73994861	28536531	15048	17194											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	232					0	0	1	0	0	G	73995295	T	G	73995295	3	3	22	1	0	0	0	0	1	0	0	0	3014	1606	56	3	611	3	CD276	15	73995295	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	434	73995295	28536097	15049	17195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	293					0	0	1	0	0	C	74003513	T	C	74003513	5	2	22	1	0	0	0	0	0	0	1	0	3014	1652	57	3	1614	3	CD276	15	74003513	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8218	74003513	28527879	15050	17196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000569161.1_3'UTR|PML_ENST00000567543.1_Missense_Mutation_p.R360H|PML_ENST00000569477.1_Missense_Mutation_p.R360H|PML_ENST00000569965.1_Missense_Mutation_p.R360H|PML_ENST00000268058.3_Missense_Mutation_p.R360H|PML_ENST00000436891.3_Missense_Mutation_p.R360H|PML_ENST00000395132.2_Missense_Mutation_p.R360H|PML_ENST00000395135.3_Missense_Mutation_p.R360H|PML_ENST00000564428.1_Missense_Mutation_p.R360H|PML_ENST00000359928.4_Missense_Mutation_p.R360H|PML_ENST00000563500.1_Missense_Mutation_p.R360H|PML_ENST00000268059.6_Missense_Mutation_p.R360H|PML_ENST00000435786.2_Missense_Mutation_p.R360H|PML_ENST00000354026.6_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"								11	234					0	0	1	0	0	A	74315645	G	A	74315645	3	1	22	1	0	0	0	0	1	0	0	0	12183	1087	38	1	1089	1	PML	15	74315645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	312132	74315645	28215747	15051	17197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000567543.1_Intron|PML_ENST00000569477.1_Missense_Mutation_p.H544Y|PML_ENST00000569965.1_Missense_Mutation_p.H544Y|PML_ENST00000268058.3_Missense_Mutation_p.H544Y|PML_ENST00000436891.3_Missense_Mutation_p.H544Y|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Missense_Mutation_p.H544Y|PML_ENST00000564428.1_Missense_Mutation_p.H496Y|PML_ENST00000359928.4_Intron|PML_ENST00000563500.1_Missense_Mutation_p.H496Y|PML_ENST00000268059.6_Missense_Mutation_p.H544Y|PML_ENST00000435786.2_Missense_Mutation_p.H544Y|PML_ENST00000354026.6_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"								56	325					0	0	1	0	0	T	74325728	C	T	74325728	3	4	22	1	0	0	0	0	1	0	0	0	12183	594	21	2	1652	2	PML	15	74325728	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10083	74325728	28205664	15052	17198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000561975.1_Intron|ISLR2_ENST00000435464.1_Missense_Mutation_p.A60T|ISLR2_ENST00000453268.2_Missense_Mutation_p.A60T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A60T|ISLR2_ENST00000565159.1_Missense_Mutation_p.A60T|ISLR2_ENST00000445793.1_Missense_Mutation_p.A60T|ISLR2_ENST00000565540.1_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													108	416					0	0	1	0	0	A	74425273	G	A	74425273	3	1	22	1	0	0	0	0	1	0	0	0	7903	1087	38	1	180	1	ISLR2	15	74425273	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99545	74425273	28106119	15053	17199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	288					0	0	1	0	0	T	74467458	C	T	74467458	3	4	22	1	0	0	0	0	1	0	0	0	7902	652	23	1	261	1	ISLR	15	74467458	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42185	74467458	28063934	15054	17200											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	232					0	0	1	0	0	T	74467777	C	T	74467777	3	4	22	1	0	0	0	0	1	0	0	0	7902	478	17	2	580	2	ISLR	15	74467777	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	319	74467777	28063615	15055	17201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542748.1_Missense_Mutation_p.C101Y|SEMA7A_ENST00000543145.2_Missense_Mutation_p.C252Y	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													40	189					0	0	1	0	0	T	74708920	C	T	74708920	3	4	22	1	0	0	0	0	1	0	0	0	14097	710	25	2	1235	2	SEMA7A	15	74708920	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	241143	74708920	27822472	15056	17202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352989.5_Missense_Mutation_p.R6Q|CLK3_ENST00000348245.3_Missense_Mutation_p.R6Q|CLK3_ENST00000345005.4_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													45	883					0	0	1	0	0	A	74911554	G	A	74911554	3	1	22	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	15057	17203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352989.5_Nonsense_Mutation_p.R35*|CLK3_ENST00000348245.3_Nonsense_Mutation_p.R35*|CLK3_ENST00000345005.4_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													112	585					0	0	1	0	0	T	74911640	C	T	74911640	4	4	22	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	15058	17204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000568176.1_Missense_Mutation_p.H168Y|EDC3_ENST00000426797.3_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													37	377					0	0	1	0	0	A	74948392	G	A	74948392	3	1	22	1	0	0	0	0	1	0	0	0	4933	1319	46	2	1040	2	EDC3	15	74948392	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36752	74948392	27583000	15059	17205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000564596.1_5'UTR|CYP1A1_ENST00000395048.2_Missense_Mutation_p.L240I|CYP1A1_ENST00000567032.1_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				54	283					3.50607e-19	3.90628e-19	1	1	0	T	75014721	G	T	75014721	3	4	22	1	0	0	0	0	1	0	0	0	4172	942	33	2	844	2	CYP1A1	15	75014721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66329	75014721	27516671	15060	17206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													179	647					3.12765e-76	3.9905e-76	1	1	0	A	75042451	C	A	75042451	2	1	22	1	0	0	0	0	0	0	0	1	4173	668	24	2		2	CYP1A2	15	75042451	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27730	75042451	27488941	15061	17207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	612					0	0	1	0	0	T	75044494	C	T	75044494	3	4	22	1	0	0	0	0	1	0	0	0	4173	643	23	1	1086	1	CYP1A2	15	75044494	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2043	75044494	27486898	15062	17208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	1071					0	0	1	0	0	G	75044545	A	G	75044545	3	3	22	1	0	0	0	0	1	0	0	0	4173	275	10	3	1137	3	CYP1A2	15	75044545	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51	75044545	27486847	15063	17209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	429					0	0	1	0	0	T	75114202	C	T	75114202	2	4	22	1	0	0	0	0	0	0	0	1	8878	610	22	2		2	LMAN1L	15	75114202	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69657	75114202	27417190	15064	17210											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													166	745					0	0	1	0	0	C	75116790	T	C	75116790	2	2	22	1	0	0	0	0	0	0	0	1	8878	1567	55	3		3	LMAN1L	15	75116790	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2588	75116790	27414602	15065	17211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000568667.1_Missense_Mutation_p.E354K|ULK3_ENST00000569437.1_Missense_Mutation_p.E343K	NM_001099436.1	NP_001092906.1	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													23	77					0	0	1	0	0	T	75131059	C	T	75131059	3	4	22	1	0	0	0	0	1	0	0	0	17037	864	30	2	419	2	ULK3	15	75131059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14269	75131059	27400333	15066	17212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000568667.1_Silent_p.Q152Q|ULK3_ENST00000569437.1_Silent_p.Q141Q	NM_001099436.1	NP_001092906.1	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													30	164					0	0	1	0	0	T	75133792	C	T	75133792	2	4	22	1	0	0	0	0	0	0	0	1	17037	912	32	2		2	ULK3	15	75133792	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2733	75133792	27397600	15067	17213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000563786.1_Silent_p.N381N|MPI_ENST00000535694.1_Silent_p.N351N|MPI_ENST00000323744.6_Silent_p.N340N			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													76	344					0	0	1	0	0	C	75190002	T	C	75190002	2	2	22	1	0	0	0	0	0	0	0	1	9778	1461	51	3		3	MPI	15	75190002	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	56210	75190002	27341390	15068	17214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000565923.1_3'UTR|SCAMP5_ENST00000562212.1_Missense_Mutation_p.V87I|SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000425597.3_Missense_Mutation_p.V87I	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													81	391					0	0	1	0	0	A	75309056	G	A	75309056	3	1	22	1	0	0	0	0	1	0	0	0	13927	1145	40	1	269	1	SCAMP5	15	75309056	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119054	75309056	27222336	15069	17215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545456.1_Silent_p.S76S|SCAMP5_ENST00000425597.3_Silent_p.S147S	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													158	815					0	0	1	0	0	A	75310804	G	A	75310804	2	1	22	1	0	0	0	0	0	0	0	1	13927	1103	39	1		1	SCAMP5	15	75310804	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1748	75310804	27220588	15070	17216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394987.4_Missense_Mutation_p.P432H|C15orf39_ENST00000567617.1_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													66	376					1.12612e-26	1.29957e-26	1	1	0	A	75499684	C	A	75499684	3	1	22	1	0	0	0	0	1	0	0	0	1799	681	24	2	1297	2	C15orf39	15	75499684	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	188880	75499684	27031708	15071	17217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394987.4_Missense_Mutation_p.R481W|C15orf39_ENST00000567617.1_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													40	431					0	0	1	0	0	T	75499830	C	T	75499830	3	4	22	1	0	0	0	0	1	0	0	0	1799	643	23	1	1443	1	C15orf39	15	75499830	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146	75499830	27031562	15072	17218											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394987.4_Missense_Mutation_p.K619E|C15orf39_ENST00000567617.1_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													49	191					0	0	1	0	0	G	75500244	A	G	75500244	3	3	22	1	0	0	0	0	1	0	0	0	1799	247	9	3	1857	3	C15orf39	15	75500244	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	414	75500244	27031148	15073	17219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000569482.1_Silent_p.T442T|MAN2C1_ENST00000563622.1_Silent_p.T343T|MAN2C1_ENST00000267978.5_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													13	87					0	0	1	0	0	A	75653521	G	A	75653521	2	1	22	1	0	0	0	0	0	0	0	1	9268	1103	39	1		1	MAN2C1	15	75653521	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153277	75653521	26877871	15074	17220											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	352					4.83814e-26	5.56701e-26	1	1	0	T	75682033	G	T	75682033	3	4	22	1	0	0	0	0	1	0	0	0	14380	1203	42	2	864	2	SIN3A	15	75682033	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28512	75682033	26849359	15075	17221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													177	649					9.20498e-97	1.18326e-96	1	1	0	A	75684615	C	A	75684615	3	1	22	1	0	0	0	0	1	0	0	0	14380	797	28	2	1030	2	SIN3A	15	75684615	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2582	75684615	26846777	15076	17222											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													149	680					0	0	1	0	0	A	75684652	G	A	75684652	3	1	22	1	0	0	0	0	1	0	0	0	14380	1144	40	1	1067	1	SIN3A	15	75684652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	75684652	26846740	15077	17223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	936					0	0	1	0	0	A	75942240	G	A	75942240	3	1	22	1	0	0	0	0	1	0	0	0	14957	1087	38	1	799	1	SNX33	15	75942240	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	257588	75942240	26589152	15078	17224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	353					0	0	1	0	0	A	75942569	G	A	75942569	3	1	22	1	0	0	0	0	1	0	0	0	14957	942	33	2	1128	2	SNX33	15	75942569	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	329	75942569	26588823	15079	17225	108	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	280					0	0	1	0	0	T	75942572	C	T	75942572	3	4	22	1	0	0	0	0	1	0	0	0	14957	884	31	1	1131	1	SNX33	15	75942572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3	75942572	26588820	15080	17226	108	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	201					0	0	1	0	0	T	75949349	C	T	75949349	2	4	22	1	0	0	0	0	0	0	0	1	14957	726	26	2		2	SNX33	15	75949349	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6777	75949349	26582043	15081	17227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	346					0	0	1	0	0	T	75969039	C	T	75969039	3	4	22	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	15082	17228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	146					0	0	1	0	0	T	75975290	C	T	75975290	2	4	22	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	15083	17229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	639					0	0	1	0	0	A	75980453	G	A	75980453	3	1	22	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	15084	17230	109	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													133	544					0	0	1	0	0	G	75980460	A	G	75980460	2	3	22	1	0	0	0	0	0	0	0	1	3985	214	8	3		3	CSPG4	15	75980460	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7	75980460	26550932	15085	17231	109	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	245					0	0	1	0	0	A	75980750	G	A	75980750	3	1	22	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	15086	17232											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	280					0	0	1	0	0	T	75981045	C	T	75981045	2	4	22	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	15087	17233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	169					0	0	1	0	0	T	75981567	C	T	75981567	2	4	22	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	15088	17234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	681					0	0	1	0	0	T	75981992	C	T	75981992	3	4	22	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	15089	17235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	309					0	0	1	0	0	G	75982969	A	G	75982969	3	3	22	1	0	0	0	0	1	0	0	0	3985	304	11	3	6563	3	CSPG4	15	75982969	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	977	75982969	26548423	15090	17236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	128					0	0	1	0	0	T	76484318	C	T	76484318	3	4	22	1	0	0	0	0	1	0	0	0	1794	643	23	1	808	1	C15orf27	15	76484318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	501349	76484318	26047074	15091	17237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	240					0	0	1	0	0	G	76630302	A	G	76630302	3	3	22	1	0	0	0	0	1	0	0	0	7901	449	16	3	248	3	ISL2	15	76630302	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	145984	76630302	25901090	15092	17238											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	554					0	0	1	0	0	A	76696915	G	A	76696915	2	1	22	1	0	0	0	0	0	0	0	1	13931	1103	39	1		1	SCAPER	15	76696915	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66613	76696915	25834477	15093	17239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	376					0	0	1	0	0	G	77064232	T	G	77064232	3	3	22	1	0	0	0	0	1	0	0	0	13931	1725	60	3	3195	3	SCAPER	15	77064232	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	367317	77064232	25467160	15094	17240											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000267939.5_Intron|PSTPIP1_ENST00000559295.1_Intron|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.V282M	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													13	26					0	0	1	0	0	A	77325208	G	A	77325208	3	1	22	1	0	0	0	0	1	0	0	0	12770	1261	44	2	890	2	PSTPIP1	15	77325208	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	260976	77325208	25206184	15095	17241											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	166					0	0	1	0	0	T	77769918	C	T	77769918	3	4	22	1	0	0	0	0	1	0	0	0	7262	527	19	1	659	1	HMG20A	15	77769918	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	444710	77769918	24761474	15096	17242											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	87					0	0	1	0	0	A	77907931	G	A	77907931	2	1	22	1	0	0	0	0	0	0	0	1	8855	1048	37	1		1	LINGO1	15	77907931	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138013	77907931	24623461	15097	17243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	51					0	0	1	0	0	A	78290595	G	A	78290595	2	1	22	1	0	0	0	0	0	0	0	1	15676	1103	39	1		1	TBC1D2B	15	78290595	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	382664	78290595	24240797	15098	17244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	154					0	0	1	0	0	C	78305387	A	C	78305387	3	2	22	1	0	0	0	0	1	0	0	0	15676	246	9	3	863	3	TBC1D2B	15	78305387	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14792	78305387	24226005	15099	17245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	203					0	0	1	0	0	T	78316861	C	T	78316861	2	4	22	1	0	0	0	0	0	0	0	1	15676	796	28	2		2	TBC1D2B	15	78316861	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11474	78316861	24214531	15100	17246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	87					0	0	1	0	0	A	78322507	G	A	78322507	3	1	22	1	0	0	0	0	1	0	0	0	15676	1059	37	1	2242	1	TBC1D2B	15	78322507	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5646	78322507	24208885	15101	17247											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	258					0	0	1	0	0	T	78398138	C	T	78398138	3	4	22	1	0	0	0	0	1	0	0	0	3443	739	26	2	86	2	CIB2	15	78398138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75631	78398138	24133254	15102	17248											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	375					0	0	1	0	0	A	78398176	G	A	78398176	2	1	22	1	0	0	0	0	0	0	0	1	3443	1079	38	1		1	CIB2	15	78398176	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38	78398176	24133216	15103	17249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	275					0	0	1	0	0	T	78403609	C	T	78403609	2	4	22	1	0	0	0	0	0	0	0	1	3443	755	27	1		1	CIB2	15	78403609	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5433	78403609	24127783	15104	17250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000559205.1_Intron|IDH3A_ENST00000441490.2_Missense_Mutation_p.D30N|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000558554.1_Missense_Mutation_p.D104N	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													164	672					0	0	1	0	0	A	78454048	G	A	78454048	3	1	22	1	0	0	0	0	1	0	0	0	7540	1058	37	1	433	1	IDH3A	15	78454048	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50439	78454048	24077344	15105	17251											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000559205.1_Missense_Mutation_p.P25T|IDH3A_ENST00000441490.2_Missense_Mutation_p.P195T|IDH3A_ENST00000561366.1_Silent_p.I37I|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000558554.1_Missense_Mutation_p.P269T	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													122	507					2.81171e-42	3.42249e-42	1	1	0	A	78458537	C	A	78458537	3	1	22	1	0	0	0	0	1	0	0	0	7540	855	30	2	948	2	IDH3A	15	78458537	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4489	78458537	24072855	15106	17252											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000560817.1_Missense_Mutation_p.E16G|ACSBG1_ENST00000541759.1_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													53	267					0	0	1	0	0	C	78474929	T	C	78474929	3	2	22	1	0	0	0	0	1	0	0	0	173	1783	62	3	1433	3	ACSBG1	15	78474929	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16392	78474929	24056463	15107	17253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78475047C>T	ENST00000258873.4	-	6	949	c.744_splice	c.e6+1	p.T248_splice	ACSBG1_ENST00000560817.1_Splice_Site_p.T6_splice|ACSBG1_ENST00000541759.1_Splice_Site_p.T6_splice	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													129	665					0	0	1	0	0	T	78475047	C	T	78475047	5	4	22	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	15108	17254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343789.3_Missense_Mutation_p.T5A|DNAJA4_ENST00000489435.2_Missense_Mutation_p.T34A	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													10	59					0	0	1	0	0	G	78557118	A	G	78557118	3	3	22	1	0	0	0	0	1	0	0	0	4641	275	10	3	106	3	DNAJA4	15	78557118	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	82071	78557118	23974274	15109	17255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446172.2_Missense_Mutation_p.R160H|DNAJA4_ENST00000343789.3_Missense_Mutation_p.R187H	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													9	352					0	0	1	0	0	A	78566680	G	A	78566680	3	1	22	1	0	0	0	0	1	0	0	0	4641	1087	38	1	720	1	DNAJA4	15	78566680	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9562	78566680	23964712	15110	17256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000558311.1_Missense_Mutation_p.L56I|WDR61_ENST00000558459.1_Intron			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													19	190					1.22574e-08	1.28258e-08	1	1	0	T	78585111	G	T	78585111	3	4	22	1	0	0	0	0	1	0	0	0	17372	991	35	2	779	2	WDR61	15	78585111	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18431	78585111	23946281	15111	17257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	375					0	0	1	0	0	T	78640310	C	T	78640310	2	4	22	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	15112	17258											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_004127.1	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													91	433					0	0	1	0	0	C	78780532	T	C	78780532	3	2	22	1	0	0	0	0	1	0	0	0	7870	1725	60	3	1863	3	IREB2	15	78780532	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	140222	78780532	23750860	15113	17259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000558281.1_Silent_p.L110L|PSMA4_ENST00000413382.2_Silent_p.L39L|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000559082.1_Silent_p.L110L|PSMA4_ENST00000560217.1_Silent_p.L79L|PSMA4_ENST00000558094.1_Silent_p.L22L	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													53	236					0	0	1	0	0	A	78837253	G	A	78837253	2	1	22	1	0	0	0	0	0	0	0	1	12718	1339	47	2		2	PSMA4	15	78837253	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56721	78837253	23694139	15114	17260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	340					3.69863e-55	4.62091e-55	1	1	0	A	78893874	C	A	78893874	3	1	22	1	0	0	0	0	1	0	0	0	3406	738	26	2	500	2	CHRNA3	15	78893874	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56621	78893874	23637518	15115	17261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	366					0	0	1	0	0	A	78893898	G	A	78893898	2	1	22	1	0	0	0	0	0	0	0	1	3406	1136	40	1		1	CHRNA3	15	78893898	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24	78893898	23637494	15116	17262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	302					0	0	1	0	0	T	78921375	C	T	78921375	2	4	22	1	0	0	0	0	0	0	0	1	3415	697	25	2		2	CHRNB4	15	78921375	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27477	78921375	23610017	15117	17263											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	199					2.37825e-27	2.75276e-27	1	1	0	A	78921496	C	A	78921496	3	1	22	1	0	0	0	0	1	0	0	0	3415	623	22	2	353	2	CHRNB4	15	78921496	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121	78921496	23609896	15118	17264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000560511.1_5'UTR|CHRNB4_ENST00000412074.2_Missense_Mutation_p.P113H	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													7	359					0.00448238	0.00451339	1	1	0	T	78923439	G	T	78923439	3	4	22	1	0	0	0	0	1	0	0	0	3415	1000	35	2	1170	2	CHRNB4	15	78923439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1943	78923439	23607953	15119	17265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	169					5.35356e-11	5.69577e-11	1	1	0	T	79058949	G	T	79058949	3	4	22	1	0	0	0	0	1	0	0	0	270	1174	41	2	1780	2	ADAMTS7	15	79058949	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135510	79058949	23472443	15120	17266											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	283					0	0	1	0	0	C	79059345	T	C	79059345	3	2	22	1	0	0	0	0	1	0	0	0	270	1696	59	3	2176	3	ADAMTS7	15	79059345	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	396	79059345	23472047	15121	17267											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	253					0	0	1	0	0	T	79059359	C	T	79059359	3	4	22	1	0	0	0	0	1	0	0	0	270	884	31	1	2190	1	ADAMTS7	15	79059359	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14	79059359	23472033	15122	17268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	65					0	0	1	0	0	A	79059868	G	A	79059868	2	1	22	1	0	0	0	0	0	0	0	1	270	1103	39	1		1	ADAMTS7	15	79059868	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	509	79059868	23471524	15123	17269											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	196					1.10923e-09	1.16946e-09	1	1	0	A	79064008	C	A	79064008	2	1	22	1	0	0	0	0	0	0	0	1	270	842	30	2		2	ADAMTS7	15	79064008	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4140	79064008	23467384	15124	17270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	130					1.32181e-22	1.49747e-22	1	1	0	A	79064172	C	A	79064172	5	1	22	1	0	0	0	0	0	0	1	0	270	695	24	2	2969	2	ADAMTS7	15	79064172	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	164	79064172	23467220	15125	17271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	103					0	0	1	0	0	T	79082066	C	T	79082066	2	4	22	1	0	0	0	0	0	0	0	1	270	755	27	1		1	ADAMTS7	15	79082066	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17894	79082066	23449326	15126	17272											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	197					0	0	1	0	0	T	79224731	C	T	79224731	3	4	22	1	0	0	0	0	1	0	0	0	4060	661	23	1	560	1	CTSH	15	79224731	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142665	79224731	23306661	15127	17273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.R719R|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													18	489					0	0	1	0	0	A	79296436	G	A	79296436	2	1	22	1	0	0	0	0	0	0	0	1	13124	1306	46	2		2	RASGRF1	15	79296436	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71705	79296436	23234956	15128	17274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	110					0	0	1	0	0	A	79760664	G	A	79760664	3	1	22	1	0	0	0	0	1	0	0	0	8247	1087	38	1	2699	1	KIAA1024	15	79760664	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	464228	79760664	22770728	15129	17275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000561421.1_Silent_p.L413L|FAH_ENST00000261755.5_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				63	273					0	0	1	0	0	T	80478528	C	T	80478528	2	4	22	1	0	0	0	0	0	0	0	1	5402	796	28	2		2	FAH	15	80478528	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	717864	80478528	22052864	15130	17276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	551					0	0	1	0	0	T	80845037	C	T	80845037	2	4	22	1	0	0	0	0	0	0	0	1	965	912	32	2		2	ARNT2	15	80845037	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	366509	80845037	21686355	15131	17277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MESDC2_ENST00000560244.1_Splice_Site|KIAA1199_ENST00000220244.3_Missense_Mutation_p.P1354H|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													129	657					1.46079e-55	1.82622e-55	1	1	0	A	81241240	C	A	81241240	3	1	22	1	0	0	0	0	1	0	0	0	8255	681	24	2	4171	2	KIAA1199	15	81241240	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	396203	81241240	21290152	15132	17278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	107					0	0	1	0	0	A	81294944	G	A	81294944	3	1	22	1	0	0	0	0	1	0	0	0	9530	971	34	2	334	2	MESDC1	15	81294944	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53704	81294944	21236448	15133	17279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	216					6.70999e-13	7.22283e-13	1	1	0	T	81427610	G	T	81427610	5	4	22	1	0	0	0	0	0	0	1	0	1793	1014	35	2	75	2	C15orf26	15	81427610	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132666	81427610	21103782	15134	17280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	355					0	0	1	0	0	A	81430434	G	A	81430434	2	1	22	1	0	0	0	0	0	0	0	1	1793	991	35	2		2	C15orf26	15	81430434	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2824	81430434	21100958	15135	17281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	230					0	0	1	0	0	T	81571983	C	T	81571983	2	4	22	1	0	0	0	0	0	0	0	1	7677	564	20	2		2	IL16	15	81571983	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141549	81571983	20959409	15136	17282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394652.2_Silent_p.L241L|IL16_ENST00000302987.4_Silent_p.L942L	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													62	244					0	0	1	0	0	T	81592491	C	T	81592491	2	4	22	1	0	0	0	0	0	0	0	1	7677	680	24	2		2	IL16	15	81592491	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20508	81592491	20938901	15137	17283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	385					0	0	1	0	0	A	81614779	G	A	81614779	2	1	22	1	0	0	0	0	0	0	0	1	15316	1103	39	1		1	STARD5	15	81614779	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22288	81614779	20916613	15138	17284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|TMC3_ENST00000359440.5_Silent_p.L966L|RP11-761I4.3_ENST00000559781.1_RNA			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													22	97					0	0	1	0	0	A	81625165	G	A	81625165	2	1	22	1	0	0	0	0	0	0	0	1	16046	1161	41	2		2	TMC3	15	81625165	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10386	81625165	20906227	15139	17285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|TMC3_ENST00000359440.5_Missense_Mutation_p.A229V|RP11-761I4.3_ENST00000559781.1_RNA			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													66	335					0	0	1	0	0	A	81650547	G	A	81650547	3	1	22	1	0	0	0	0	1	0	0	0	16046	1087	38	1	2680	1	TMC3	15	81650547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25382	81650547	20880845	15140	17286											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	94					0	0	1	0	0	C	81666401	T	C	81666401	2	2	22	1	0	0	0	0	0	0	0	1	16046	1451	51	3		3	TMC3	15	81666401	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15854	81666401	20864991	15141	17287											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_032246.3	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													17	441					0	0	1	0	0	A	82335561	G	A	82335561	2	1	22	1	0	0	0	0	0	0	0	1	9560	1078	38	1		1	MEX3B	15	82335561	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	669160	82335561	20195831	15142	17288											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_032246.3	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													8	47					0	0	1	0	0	A	82335787	G	A	82335787	3	1	22	1	0	0	0	0	1	0	0	0	9560	1203	42	2	289	2	MEX3B	15	82335787	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	226	82335787	20195605	15143	17289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_032246.3	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													11	271					0	0	1	0	0	T	82336392	C	T	82336392	2	4	22	1	0	0	0	0	0	0	0	1	9560	755	27	1		1	MEX3B	15	82336392	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	605	82336392	20195000	15144	17290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	649					0	0	1	0	0	G	82444692	T	G	82444692	3	3	22	1	0	0	0	0	1	0	0	0	4986	1606	56	3	1271	3	EFTUD1	15	82444692	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	108300	82444692	20086700	15145	17291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	75					0	0	1	0	0	G	82532772	T	G	82532772	3	3	22	1	0	0	0	0	1	0	0	0	4986	1493	52	3	2919	3	EFTUD1	15	82532772	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88080	82532772	19998620	15146	17292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000565501.1_3'UTR|FAM154B_ENST00000566861.1_Missense_Mutation_p.I14S|FAM154B_ENST00000339465.5_Missense_Mutation_p.I14S|FAM154B_ENST00000566205.1_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													10	62					0	0	1	0	0	G	82555261	T	G	82555261	1	3	22	1	0	0	0	0	0	0	0	0	5494	1493	52	3		3	FAM154B	15	82555261	Translation_Start_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22489	82555261	19976131	15147	17293											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535359.1_Missense_Mutation_p.L585I|AP3B2_ENST00000535348.1_Missense_Mutation_p.L553I|RP11-752G15.3_ENST00000560650.1_RNA	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													74	372					3.78398e-24	4.31794e-24	1	1	0	T	83335598	G	T	83335598	3	4	22	1	0	0	0	0	1	0	0	0	741	971	34	2	1543	2	AP3B2	15	83335598	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	780337	83335598	19195794	15148	17294											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535359.1_Silent_p.N406N|AP3B2_ENST00000535348.1_Silent_p.N374N|RP11-752G15.3_ENST00000560650.1_RNA	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													26	100					0	0	1	0	0	A	83346884	G	A	83346884	2	1	22	1	0	0	0	0	0	0	0	1	741	1368	48	2		2	AP3B2	15	83346884	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11286	83346884	19184508	15149	17295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	54					5.03518e-11	5.3609e-11	1	1	0	T	83440974	G	T	83440974	3	4	22	1	0	0	0	0	1	0	0	0	6106	942	33	2	1159	2	FSD2	15	83440974	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94090	83440974	19090418	15150	17296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	53					0	0	1	0	0	A	83478510	G	A	83478510	3	1	22	1	0	0	0	0	1	0	0	0	17421	1203	42	2	34	2	WHAMM	15	83478510	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37536	83478510	19052882	15151	17297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	347					0	0	1	0	0	T	84237341	C	T	84237341	3	4	22	1	0	0	0	0	1	0	0	0	14307	507	18	2	262	2	SH3GL3	15	84237341	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	758831	84237341	18294051	15152	17298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	162					0	0	1	0	0	T	84257442	C	T	84257442	4	4	22	1	0	0	0	0	0	1	0	0	14307	528	19	1	787	1	SH3GL3	15	84257442	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20101	84257442	18273950	15153	17299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	253					0	0	1	0	0	T	84539609	C	T	84539609	2	4	22	1	0	0	0	0	0	0	0	1	275	639	23	1		1	ADAMTSL3	15	84539609	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	282167	84539609	17991783	15154	17300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	43					8.12818e-05	8.2724e-05	1	1	0	T	85186746	G	T	85186746	2	4	22	1	0	0	0	0	0	0	0	1	17383	987	35	2		2	WDR73	15	85186746	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	647137	85186746	17344646	15155	17301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	487					0	0	1	0	0	T	85191804	C	T	85191804	3	4	22	1	0	0	0	0	1	0	0	0	17383	681	24	2	905	2	WDR73	15	85191804	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5058	85191804	17339588	15156	17302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	430					3.99893e-49	4.94408e-49	1	1	0	T	85326844	G	T	85326844	3	4	22	1	0	0	0	0	1	0	0	0	18079	1232	43	2	940	2	ZNF592	15	85326844	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135040	85326844	17204548	15157	17303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	213					5.73435e-26	6.59582e-26	1	1	0	T	85341876	G	T	85341876	3	4	22	1	0	0	0	0	1	0	0	0	18079	1174	41	2	2812	2	ZNF592	15	85341876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15032	85341876	17189516	15158	17304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	429					0	0	1	0	0	A	85382963	G	A	85382963	2	1	22	1	0	0	0	0	0	0	0	1	542	991	35	2		2	ALPK3	15	85382963	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41087	85382963	17148429	15159	17305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	88					0	0	1	0	0	A	85401163	G	A	85401163	3	1	22	1	0	0	0	0	1	0	0	0	542	1261	44	2	3822	2	ALPK3	15	85401163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18200	85401163	17130229	15160	17306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	362					0	0	1	0	0	A	85407773	G	A	85407773	3	1	22	1	0	0	0	0	1	0	0	0	542	1175	41	2	5252	2	ALPK3	15	85407773	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6610	85407773	17123619	15161	17307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000286749.3_Missense_Mutation_p.L179R|SLC28A1_ENST00000537624.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000537216.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000537703.1_Missense_Mutation_p.L101R|SLC28A1_ENST00000538177.1_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													12	490					0	0	1	0	0	G	85447402	T	G	85447402	3	3	22	1	0	0	0	0	1	0	0	0	14586	1580	55	3	625	3	SLC28A1	15	85447402	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39629	85447402	17083990	15162	17308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000286749.3_Missense_Mutation_p.A515V|SLC28A1_ENST00000537624.1_Missense_Mutation_p.A515V|SLC28A1_ENST00000537216.1_Missense_Mutation_p.A515V|SLC28A1_ENST00000538177.1_Intron	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													28	707					0	0	1	0	0	T	85478712	C	T	85478712	3	4	22	1	0	0	0	0	1	0	0	0	14586	739	26	2	1665	2	SLC28A1	15	85478712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31310	85478712	17052680	15163	17309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000286749.3_Silent_p.E629E|SLC28A1_ENST00000537624.1_Intron|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000538177.1_Silent_p.E463E	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													24	240					0	0	1	0	0	A	85488368	G	A	85488368	2	1	22	1	0	0	0	0	0	0	0	1	14586	1020	36	2		2	SLC28A1	15	85488368	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9656	85488368	17043024	15164	17310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557819.2_3'UTR|PDE8A_ENST00000394553.1_Silent_p.Q137Q|PDE8A_ENST00000557957.1_Silent_p.Q65Q|PDE8A_ENST00000339708.5_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													58	293					0	0	1	0	0	A	85610412	G	A	85610412	2	1	22	1	0	0	0	0	0	0	0	1	11700	962	34	2		2	PDE8A	15	85610412	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122044	85610412	16920980	15165	17311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85652283G>A	ENST00000310298.4	+	13	1288		c.e13-1		PDE8A_ENST00000557819.2_Splice_Site|PDE8A_ENST00000394553.1_Splice_Site|PDE8A_ENST00000557957.1_Splice_Site|PDE8A_ENST00000339708.5_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													47	243					0	0	1	0	0	A	85652283	G	A	85652283	5	1	22	1	0	0	0	0	0	0	1	0	11700	956	33	2	1082	2	PDE8A	15	85652283	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41871	85652283	16879109	15166	17312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394553.1_Nonsense_Mutation_p.R454*|PDE8A_ENST00000557957.1_Nonsense_Mutation_p.R382*|PDE8A_ENST00000339708.5_Nonsense_Mutation_p.R408*			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													21	135					0	0	1	0	0	T	85658679	C	T	85658679	4	4	22	1	0	0	0	0	0	1	0	0	11700	760	27	1	1418	1	PDE8A	15	85658679	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6396	85658679	16872713	15167	17313											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_007200.3	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													28	406					3.73148e-12	3.99992e-12	1	1	0	T	86076846	G	T	86076846	3	4	22	1	0	0	0	0	1	0	0	0	446	962	34	2	223	2	AKAP13	15	86076846	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	418167	86076846	16454546	15168	17314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AKAP13_ENST00000361243.2_Missense_Mutation_p.K547R|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.3	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													112	503					0	0	1	0	0	G	86122939	A	G	86122939	3	3	22	1	0	0	0	0	1	0	0	0	446	14	1	3	1662	3	AKAP13	15	86122939	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	46093	86122939	16408453	15169	17315											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_007200.3	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													7	231					0	0	1	0	0	A	86124899	G	A	86124899	2	1	22	1	0	0	0	0	0	0	0	1	446	962	34	2		2	AKAP13	15	86124899	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1960	86124899	16406493	15170	17316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_007200.3	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													42	172					0	0	1	0	0	A	86125099	G	A	86125099	3	1	22	1	0	0	0	0	1	0	0	0	446	1174	41	2	3822	2	AKAP13	15	86125099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200	86125099	16406293	15171	17317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361243.2_Silent_p.P1708P|AKAP13_ENST00000394510.2_5'UTR	NM_001270546.1|NM_007200.3	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													8	289					2.17888e-05	2.22852e-05	1	1	0	A	86225399	C	A	86225399	2	1	22	1	0	0	0	0	0	0	0	1	446	668	24	2		2	AKAP13	15	86225399	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100300	86225399	16305993	15172	17318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	131					0	0	1	0	0	A	86800203	G	A	86800203	2	1	22	1	0	0	0	0	0	0	0	1	372	1103	39	1		1	AGBL1	15	86800203	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	574804	86800203	15731189	15173	17319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	319					0	0	1	0	0	A	86822881	G	A	86822881	3	1	22	1	0	0	0	0	1	0	0	0	372	1087	38	1	2003	1	AGBL1	15	86822881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22678	86822881	15708511	15174	17320											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													145	533					0	0	1	0	0	A	86822914	G	A	86822914	3	1	22	1	0	0	0	0	1	0	0	0	372	1232	43	2	2036	2	AGBL1	15	86822914	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33	86822914	15708478	15175	17321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000421325.2_Missense_Mutation_p.A1021T|AGBL1_ENST00000389298.3_Missense_Mutation_p.A752T	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													17	90					0	0	1	0	0	A	87217645	G	A	87217645	3	1	22	1	0	0	0	0	1	0	0	0	372	1087	38	1	3143	1	AGBL1	15	87217645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	394731	87217645	15313747	15176	17322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88420315G>A	ENST00000394480.1	-	19	2650	c.2329C>T	c.(2329-2331)Cgg>Tgg	p.R777W	NTRK3_ENST00000355254.2_Missense_Mutation_p.R777W|NTRK3_ENST00000557856.1_Missense_Mutation_p.R769W|NTRK3_ENST00000360948.2_Missense_Mutation_p.R791W|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	791	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)			39	202					0	0	1	0	0	A	88420315	G	A	88420315	3	1	22	1	0	0	0	0	1	0	0	0	10756	1086	38	1	152	1	NTRK3	15	88420315	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1202670	88420315	14111077	15177	17323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88472622G>A	ENST00000394480.1	-	17	2254	c.1933C>T	c.(1933-1935)Cgc>Tgc	p.R645C	NTRK3_ENST00000355254.2_Missense_Mutation_p.R645C|NTRK3_ENST00000542733.2_Missense_Mutation_p.R547C|NTRK3_ENST00000557856.1_Missense_Mutation_p.R637C|NTRK3_ENST00000360948.2_Missense_Mutation_p.R645C|NTRK3_ENST00000357724.2_Missense_Mutation_p.R637C|NTRK3_ENST00000558676.1_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	645	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)			26	117					0	0	1	0	0	A	88472622	G	A	88472622	3	1	22	1	0	0	0	0	1	0	0	0	10756	1145	40	1	602	1	NTRK3	15	88472622	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52307	88472622	14058770	15178	17324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355254.2_Intron|NTRK3_ENST00000394480.1_Intron|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000558676.1_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)			67	337					1.63498e-16	1.79634e-16	1	1	0	A	88522688	C	A	88522688	3	1	22	1	0	0	0	0	1	0	0	0	10756	913	32	2	1074	2	NTRK3	15	88522688	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50066	88522688	14008704	15179	17325											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88669595C>A	ENST00000394480.1	-	13	1624	c.1303G>T	c.(1303-1305)Gca>Tca	p.A435S	NTRK3_ENST00000355254.2_Missense_Mutation_p.A435S|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000542733.2_Missense_Mutation_p.A337S|NTRK3_ENST00000557856.1_Missense_Mutation_p.A427S|NTRK3_ENST00000360948.2_Missense_Mutation_p.A435S|NTRK3_ENST00000357724.2_Missense_Mutation_p.A427S|NTRK3_ENST00000558676.1_Missense_Mutation_p.A427S|NTRK3_ENST00000317501.3_Missense_Mutation_p.A435S|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	435					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)			18	166					1.99824e-07	2.07512e-07	1	1	0	A	88669595	C	A	88669595	3	1	22	1	0	0	0	0	1	0	0	0	10756	797	28	2	1510	2	NTRK3	15	88669595	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146907	88669595	13861797	15180	17326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88799241C>T	ENST00000394480.1	-	3	465	c.144G>A	c.(142-144)ccG>ccA	p.P48P	NTRK3_ENST00000355254.2_Silent_p.P48P|NTRK3_ENST00000557856.1_Silent_p.P48P|NTRK3_ENST00000360948.2_Silent_p.P48P|NTRK3_ENST00000357724.2_Silent_p.P48P|NTRK3_ENST00000558676.1_Silent_p.P48P|NTRK3_ENST00000317501.3_Silent_p.P48P|NTRK3_ENST00000540489.2_Silent_p.P48P|NTRK3-AS1_ENST00000569588.1_lincRNA	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	48					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)			71	412					0	0	1	0	0	T	88799241	C	T	88799241	2	4	22	1	0	0	0	0	0	0	0	1	10756	639	23	1		1	NTRK3	15	88799241	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129646	88799241	13732151	15181	17327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557974.1_3'UTR|MRPS11_ENST00000353598.6_Missense_Mutation_p.R85W	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													56	314					0	0	1	0	0	T	89018411	C	T	89018411	3	4	22	1	0	0	0	0	1	0	0	0	9871	875	31	1	366	1	MRPS11	15	89018411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219170	89018411	13512981	15182	17328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	123					0	0	1	0	0	T	89073957	C	T	89073957	3	4	22	1	0	0	0	0	1	0	0	0	4478	652	23	1	688	1	DET1	15	89073957	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55546	89073957	13457435	15183	17329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	522					0	0	1	0	0	A	89169883	G	A	89169883	3	1	22	1	0	0	0	0	1	0	0	0	350	1000	35	2	445	2	AEN	15	89169883	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95926	89169883	13361509	15184	17330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000559004.1_Missense_Mutation_p.L973I|ACAN_ENST00000352105.7_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													212	896					3.73429e-81	4.77757e-81	1	1	0	A	89398733	C	A	89398733	3	1	22	1	0	0	0	0	1	0	0	0	117	681	24	2	2959	2	ACAN	15	89398733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	228850	89398733	13132659	15185	17331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000559004.1_Silent_p.P1643P|ACAN_ENST00000352105.7_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													134	637					1.12488e-73	1.43224e-73	1	1	0	A	89400745	C	A	89400745	2	1	22	1	0	0	0	0	0	0	0	1	117	668	24	2		2	ACAN	15	89400745	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2012	89400745	13130647	15186	17332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000559004.1_Missense_Mutation_p.T1658I|ACAN_ENST00000352105.7_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													118	582					0	0	1	0	0	T	89400789	C	T	89400789	3	4	22	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	15187	17333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000559004.1_Missense_Mutation_p.A1672D|ACAN_ENST00000352105.7_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													114	607					1.472e-32	1.73897e-32	1	1	0	A	89400831	C	A	89400831	3	1	22	1	0	0	0	0	1	0	0	0	117	739	26	2	5057	2	ACAN	15	89400831	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42	89400831	13130561	15188	17334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000559004.1_Missense_Mutation_p.R2121I|ACAN_ENST00000352105.7_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													51	296					9.57592e-29	1.11608e-28	1	1	0	T	89402178	G	T	89402178	3	4	22	1	0	0	0	0	1	0	0	0	117	942	33	2	6404	2	ACAN	15	89402178	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1347	89402178	13129214	15189	17335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000559004.1_Intron|ACAN_ENST00000352105.7_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													15	106					0	0	1	0	0	T	89403630	C	T	89403630	2	4	22	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	15190	17336											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	924					0	0	1	0	0	T	89421380	C	T	89421380	3	4	22	1	0	0	0	0	1	0	0	0	6997	768	27	1	182	1	HAPLN3	15	89421380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17750	89421380	13110012	15191	17337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													160	801					0	0	1	0	0	A	89421412	G	A	89421412	3	1	22	1	0	0	0	0	1	0	0	0	6997	1203	42	2	214	2	HAPLN3	15	89421412	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32	89421412	13109980	15192	17338											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	470					0	0	1	0	0	T	89424833	C	T	89424833	3	4	22	1	0	0	0	0	1	0	0	0	6997	536	19	1	846	1	HAPLN3	15	89424833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3421	89424833	13106559	15193	17339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	481					1.45844e-59	1.83211e-59	1	1	0	T	89758374	G	T	89758374	3	4	22	1	0	0	0	0	1	0	0	0	13440	1000	35	2	527	2	RLBP1	15	89758374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	333541	89758374	12773018	15194	17340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					72	338					0	0	1	0	0	A	89865049	G	A	89865049	3	1	22	1	0	0	0	0	1	0	0	0	12248	1203	42	2	1235	2	POLG	15	89865049	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106675	89865049	12666343	15195	17341											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					70	329					0	0	1	0	0	T	89872050	C	T	89872050	3	4	22	1	0	0	0	0	1	0	0	0	12248	855	30	2	2759	2	POLG	15	89872050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7001	89872050	12659342	15196	17342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89872175G>A	ENST00000268124.5	-	4	1355	c.1023_splice	c.e4+1	p.A341_splice	POLG_ENST00000442287.2_Splice_Site_p.A341_splice	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)					55	204					0	0	1	0	0	A	89872175	G	A	89872175	5	1	22	1	0	0	0	0	0	0	1	0	12248	1101	38	1	2777	1	POLG	15	89872175	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125	89872175	12659217	15197	17343											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					20	240					0	0	1	0	0	T	89873447	C	T	89873447	2	4	22	1	0	0	0	0	0	0	0	1	12248	755	27	1		1	POLG	15	89873447	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1272	89873447	12657945	15198	17344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000559170.1_Intron|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.K38T|PEX11A_ENST00000561224.1_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													8	442					0	0	1	0	0	G	90229721	T	G	90229721	3	3	22	1	0	0	0	0	1	0	0	0	11785	1841	64	3	638	3	PEX11A	15	90229721	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	356274	90229721	12301671	15199	17345											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													142	647					0	0	1	0	0	A	90340856	T	A	90340856	3	1	22	1	0	0	0	0	1	0	0	0	704	1551	54	5	824	5	ANPEP	15	90340856	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	111135	90340856	12190536	15200	17346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	337					4.3838e-07	4.54049e-07	1	1	0	A	90342699	C	A	90342699	3	1	22	1	0	0	0	0	1	0	0	0	704	912	32	2	1028	2	ANPEP	15	90342699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1843	90342699	12188693	15201	17347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	305					0	0	1	0	0	T	90346982	C	T	90346982	3	4	22	1	0	0	0	0	1	0	0	0	704	739	26	2	1626	2	ANPEP	15	90346982	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4283	90346982	12184410	15202	17348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													164	720					0	0	1	0	0	T	90348375	C	T	90348375	2	4	22	1	0	0	0	0	0	0	0	1	704	523	19	1		1	ANPEP	15	90348375	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1393	90348375	12183017	15203	17349											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540499.2_Missense_Mutation_p.G149D|IDH2_ENST00000539790.1_Missense_Mutation_p.G71D|IDH2_ENST00000559482.1_Missense_Mutation_p.G92D	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								127	469					0	0	1	0	0	T	90631667	C	T	90631667	3	4	22	1	0	0	0	0	1	0	0	0	7539	739	26	2	784	2	IDH2	15	90631667	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	283292	90631667	11899725	15204	17350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540499.2_Missense_Mutation_p.L91M|IDH2_ENST00000539790.1_Missense_Mutation_p.L13M|IDH2_ENST00000559482.1_Intron	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								65	364					4.67498e-28	5.42913e-28	1	1	0	T	90631926	G	T	90631926	3	4	22	1	0	0	0	0	1	0	0	0	7539	991	35	2	963	2	IDH2	15	90631926	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	259	90631926	11899466	15205	17351											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540499.2_Missense_Mutation_p.K81R|IDH2_ENST00000539790.1_Missense_Mutation_p.K3R|IDH2_ENST00000559482.1_Intron	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								57	341					0	0	1	0	0	C	90631955	T	C	90631955	3	2	22	1	0	0	0	0	1	0	0	0	7539	1841	64	3	992	3	IDH2	15	90631955	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29	90631955	11899437	15206	17352											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332496.6_Silent_p.G288G|SEMA4B_ENST00000379122.3_Silent_p.G283G	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													16	94					0	0	1	0	0	T	90766793	C	T	90766793	2	4	22	1	0	0	0	0	0	0	0	1	14086	755	27	1		1	SEMA4B	15	90766793	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134838	90766793	11764599	15207	17353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332496.6_Silent_p.S669S|SEMA4B_ENST00000379122.3_Silent_p.S664S	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													19	85					0	0	1	0	0	T	90771368	C	T	90771368	2	4	22	1	0	0	0	0	0	0	0	1	14086	796	28	2		2	SEMA4B	15	90771368	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4575	90771368	11760024	15208	17354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332496.6_Missense_Mutation_p.D834E|SEMA4B_ENST00000379122.3_Intron	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													59	275					6.1719e-39	7.45173e-39	1	1	0	A	90771863	C	A	90771863	3	1	22	1	0	0	0	0	1	0	0	0	14086	564	20	2	2556	2	SEMA4B	15	90771863	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	495	90771863	11759529	15209	17355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	370					6.4308e-24	7.32928e-24	1	1	0	A	90774380	C	A	90774380	4	1	22	1	0	0	0	0	0	1	0	0	3442	922	32	2	175	2	CIB1	15	90774380	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2517	90774380	11757012	15210	17356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-697E2.6_ENST00000561573.1_Intron|NGRN_ENST00000331497.3_3'UTR	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													22	81					0	0	1	0	0	A	90809089	G	A	90809089	3	1	22	1	0	0	0	0	1	0	0	0	10446	1175	41	2	147	2	NGRN	15	90809089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34709	90809089	11722303	15211	17357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	RP11-697E2.6_ENST00000561573.1_3'UTR|NGRN_ENST00000331497.3_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													13	192					0	0	1	0	0	T	90814847	C	T	90814847	4	4	22	1	0	0	0	0	0	1	0	0	10446	711	25	2	713	2	NGRN	15	90814847	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5758	90814847	11716545	15212	17358											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	440					0	0	1	0	0	A	90904469	G	A	90904469	3	1	22	1	0	0	0	0	1	0	0	0	18196	1145	40	1	1416	1	ZNF774	15	90904469	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89622	90904469	11626923	15213	17359											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	197					0	0	1	0	0	T	91017342	C	T	91017342	3	4	22	1	0	0	0	0	1	0	0	0	7858	797	28	2	2638	2	IQGAP1	15	91017342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112873	91017342	11514050	15214	17360											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000268184.6_Silent_p.A73A|CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000560098.1_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								52	175					0	0	1	0	0	A	91083357	G	A	91083357	2	1	22	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	15215	17361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				118	563					0	0	1	0	0	A	91303942	G	A	91303942	3	1	22	1	0	0	0	0	1	0	0	0	1444	1000	35	2	1361	2	BLM	15	91303942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	220585	91303942	11227450	15216	17362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				72	301					0	0	1	0	0	A	91328228	G	A	91328228	3	1	22	1	0	0	0	0	1	0	0	0	1444	1087	38	1	2790	1	BLM	15	91328228	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24286	91328228	11203164	15217	17363											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				86	375					0	0	1	0	0	G	91346826	T	G	91346826	3	3	22	1	0	0	0	0	1	0	0	0	1444	1609	56	3	3500	3	BLM	15	91346826	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18598	91346826	11184566	15218	17364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				139	592					1.4778e-69	1.87562e-69	1	1	0	T	91347508	G	T	91347508	4	4	22	1	0	0	0	0	0	1	0	0	1444	943	33	2	3740	2	BLM	15	91347508	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	682	91347508	11183884	15219	17365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	496					0	0	1	0	0	T	91424215	C	T	91424215	2	4	22	1	0	0	0	0	0	0	0	1	6134	639	23	1		1	FURIN	15	91424215	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76707	91424215	11107177	15220	17366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	463					0	0	1	0	0	A	91424593	G	A	91424593	3	1	22	1	0	0	0	0	1	0	0	0	6134	1058	37	1	1928	1	FURIN	15	91424593	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	378	91424593	11106799	15221	17367											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450438.2_Silent_p.G445G|FES_ENST00000444422.2_Silent_p.G503G|FES_ENST00000394300.3_Silent_p.G515G|FES_ENST00000414248.2_Silent_p.G445G|FES_ENST00000394302.1_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													19	78					0	0	1	0	0	T	91435948	C	T	91435948	2	4	22	1	0	0	0	0	0	0	0	1	5853	755	27	1		1	FES	15	91435948	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11355	91435948	11095444	15222	17368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	631					0	0	1	0	0	A	91447469	G	A	91447469	3	1	22	1	0	0	0	0	1	0	0	0	9265	1232	43	2	34	2	MAN2A2	15	91447469	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11521	91447469	11083923	15223	17369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431652.2_Missense_Mutation_p.A581T|MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000559717.1_Missense_Mutation_p.A1073T|MAN2A2_ENST00000430376.2_Missense_Mutation_p.A263T	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													24	149					0	0	1	0	0	A	91461902	G	A	91461902	3	1	22	1	0	0	0	0	1	0	0	0	9265	1087	38	1	3299	1	MAN2A2	15	91461902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14433	91461902	11069490	15224	17370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431652.2_Missense_Mutation_p.R656H|MAN2A2_ENST00000559717.1_Missense_Mutation_p.R1148H|MAN2A2_ENST00000430376.2_Missense_Mutation_p.R338H	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													15	389					0	0	1	0	0	A	91463007	G	A	91463007	3	1	22	1	0	0	0	0	1	0	0	0	9265	1087	38	1	3529	1	MAN2A2	15	91463007	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1105	91463007	11068385	15225	17371											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361919.3_Intron|PRC1_ENST00000361188.5_Intron|PRC1_ENST00000442656.2_Intron|PRC1-AS1_ENST00000556200.1_RNA	NM_003981.3	NP_003972.1	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													21	143					0	0	1	0	0	A	91512344	G	A	91512344	3	1	22	1	0	0	0	0	1	0	0	0	12498	1174	41	2	114	2	PRC1	15	91512344	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49337	91512344	11019048	15226	17372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535906.1_Missense_Mutation_p.S352N|VPS33B_ENST00000535843.1_Missense_Mutation_p.S288N	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													51	304					0	0	1	0	0	T	91548319	C	T	91548319	3	4	22	1	0	0	0	0	1	0	0	0	17262	797	28	2	753	2	VPS33B	15	91548319	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35975	91548319	10983073	15227	17373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	56					0	0	1	0	0	A	92459545	G	A	92459545	3	1	22	1	0	0	0	0	1	0	0	0	14783	1087	38	1	509	1	SLCO3A1	15	92459545	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	911226	92459545	10071847	15228	17374											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	65					0	0	1	0	0	A	92459678	G	A	92459678	2	1	22	1	0	0	0	0	0	0	0	1	14783	1074	38	1		1	SLCO3A1	15	92459678	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133	92459678	10071714	15229	17375											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	851					0	0	1	0	0	T	92647576	C	T	92647576	2	4	22	1	0	0	0	0	0	0	0	1	14783	776	27	1		1	SLCO3A1	15	92647576	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187898	92647576	9883816	15230	17376											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	347					0	0	1	0	0	A	93521533	G	A	93521533	3	1	22	1	0	0	0	0	1	0	0	0	3347	1145	40	1	2729	1	CHD2	15	93521533	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	873957	93521533	9009859	15231	17377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	406					0	0	1	0	0	C	94841508	A	C	94841508	3	2	22	1	0	0	0	0	1	0	0	0	9451	14	1	3	16	3	MCTP2	15	94841508	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1319975	94841508	7689884	15232	17378											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	417					0	0	1	0	0	A	94841523	G	A	94841523	3	1	22	1	0	0	0	0	1	0	0	0	9451	1203	42	2	31	2	MCTP2	15	94841523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	94841523	7689869	15233	17379											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	494					0	0	1	0	0	T	95013650	C	T	95013650	3	4	22	1	0	0	0	0	1	0	0	0	9451	759	27	1	2603	1	MCTP2	15	95013650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172127	95013650	7517742	15234	17380											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	50					0.000274275	0.000278163	1	1	0	T	96875553	G	T	96875553	3	4	22	1	0	0	0	0	1	0	0	0	10676	962	34	2	268	2	NR2F2	15	96875553	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1861903	96875553	5655839	15235	17381											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	337					0	0	1	0	0	G	98508838	A	G	98508838	3	3	22	1	0	0	0	0	1	0	0	0	984	217	8	3	322	3	ARRDC4	15	98508838	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1633285	98508838	4022554	15236	17382											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	354					0	0	1	0	0	T	98513913	C	T	98513913	2	4	22	1	0	0	0	0	0	0	0	1	984	805	28	2		2	ARRDC4	15	98513913	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5075	98513913	4017479	15237	17383											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	210					0	0	1	0	0	T	99023964	C	T	99023964	3	4	22	1	0	0	0	0	1	0	0	0	5518	768	27	1	545	1	FAM169B	15	99023964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	510051	99023964	3507428	15238	17384											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	305					0	0	1	0	0	T	99456414	C	T	99456414	2	4	22	1	0	0	0	0	0	0	0	1	7615	547	19	1		1	IGF1R	15	99456414	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	432450	99456414	3074978	15239	17385											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	300					0	0	1	0	0	A	99465579	G	A	99465579	3	1	22	1	0	0	0	0	1	0	0	0	7615	1058	37	1	2446	1	IGF1R	15	99465579	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9165	99465579	3065813	15240	17386											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	446					0	0	1	0	0	A	99472828	G	A	99472828	3	1	22	1	0	0	0	0	1	0	0	0	7615	1145	40	1	2878	1	IGF1R	15	99472828	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7249	99472828	3058564	15241	17387											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	274					0	0	1	0	0	G	99500663	A	G	99500663	3	3	22	1	0	0	0	0	1	0	0	0	7615	275	10	3	4178	3	IGF1R	15	99500663	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27835	99500663	3030729	15242	17388											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-654A16.3_ENST00000559468.1_RNA|PGPEP1L_ENST00000378919.6_Missense_Mutation_p.A181T	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													14	93					0	0	1	0	0	T	99511757	C	T	99511757	3	4	22	1	0	0	0	0	1	0	0	0	11852	797	28	2	53	2	PGPEP1L	15	99511757	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11094	99511757	3019635	15243	17389											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99666928G>A	ENST00000336292.6	+	4	1054	c.932_splice	c.e4-1	p.A312_splice	SYNM_ENST00000560674.1_Splice_Site_p.A27_splice|SYNM_ENST00000328642.7_Splice_Site_p.A312_splice|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													3	34					0	0	1	0	0	A	99666928	G	A	99666928	5	1	22	1	0	0	0	0	0	0	1	0	15512	1217	42	2	946	2	SYNM	15	99666928	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155171	99666928	2864464	15244	17390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Missense_Mutation_p.G309S|SYNM_ENST00000328642.7_Missense_Mutation_p.G594S|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													50	272					0	0	1	0	0	A	99670348	G	A	99670348	3	1	22	1	0	0	0	0	1	0	0	0	15512	1000	35	2	1796	2	SYNM	15	99670348	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3420	99670348	2861044	15245	17391											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000560674.1_Silent_p.S876S|SYNM_ENST00000328642.7_Silent_p.S1161S|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													167	952					0	0	1	0	0	T	99672987	C	T	99672987	2	4	22	1	0	0	0	0	0	0	0	1	15512	738	26	2		2	SYNM	15	99672987	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2639	99672987	2858405	15246	17392											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394135.3_Missense_Mutation_p.G236S|TTC23_ENST00000558613.1_Missense_Mutation_p.G236S|TTC23_ENST00000394129.2_Missense_Mutation_p.G236S|TTC23_ENST00000394136.1_Missense_Mutation_p.G236S|TTC23_ENST00000262074.4_Missense_Mutation_p.G236S|TTC23_ENST00000558663.1_Missense_Mutation_p.G236S|TTC23_ENST00000394130.1_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													105	479					0	0	1	0	0	T	99740177	C	T	99740177	3	4	22	1	0	0	0	0	1	0	0	0	16752	681	24	2	661	2	TTC23	15	99740177	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67190	99740177	2791215	15247	17393											
MEF2A	0	broad.mit.edu	37	chr15	100185786	100185787	+	Frame_Shift_Ins	INS	-	-	T													tcacttttacaaagagaaagINStttggattaatgaagaaagc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100185786_100185787insT	ENST00000354410.5	+	4	704_705	c.75_76insT	c.(73-78)aattggfs	p.W26fs	MEF2A_ENST00000558856.1_Intron|MEF2A_ENST00000557942.1_Frame_Shift_Ins_p.W26fs|MEF2A_ENST00000557785.1_Frame_Shift_Ins_p.W26fs|MEF2A_ENST00000453228.2_Frame_Shift_Ins_p.W26fs|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000338042.6_Frame_Shift_Ins_p.W26fs|MEF2A_ENST00000558812.1_Intron	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	26	Lys-rich (basic).|MADS-box.				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)			CAAAGAGAAAGTTTGGATTAAT	0.317													70	332	---	---	---	---						T	100185787	-	T	100185786	7	5	22	1	0	1	1	0	0	0	0	0	9505	1020	36	0	81	0	MEF2A	15	100185786	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	445609	100185786	2345606	15248	17394											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557942.1_Missense_Mutation_p.G129C|MEF2A_ENST00000557785.1_Missense_Mutation_p.G129C|MEF2A_ENST00000453228.2_Missense_Mutation_p.G129C|MEF2A_ENST00000558812.1_Missense_Mutation_p.G61C|MEF2A_ENST00000449277.2_Missense_Mutation_p.G61C|MEF2A_ENST00000354410.5_Intron			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													54	328					3.53049e-34	4.19639e-34	1	1	0	T	100211654	G	T	100211654	3	4	22	1	0	0	0	0	1	0	0	0	9505	1000	35	2	395	2	MEF2A	15	100211654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25868	100211654	2319738	15249	17395											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409796.1_Missense_Mutation_p.A88V|LYSMD4_ENST00000545021.1_5'UTR|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000332728.4_Missense_Mutation_p.A88V	NM_152449.2	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													43	390					0	0	1	0	0	A	100271942	G	A	100271942	3	1	22	1	0	0	0	0	1	0	0	0	9173	1087	38	1	734	1	LYSMD4	15	100271942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60288	100271942	2259450	15250	17396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	461					0	0	1	0	0	A	100514630	G	A	100514630	3	1	22	1	0	0	0	0	1	0	0	0	261	1087	38	1	26	1	ADAMTS17	15	100514630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242688	100514630	2016762	15251	17397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													179	822					0	0	1	0	0	A	100591811	G	A	100591811	2	1	22	1	0	0	0	0	0	0	0	1	261	1078	38	1		1	ADAMTS17	15	100591811	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77181	100591811	1939581	15252	17398											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	536					3.50788e-48	4.32678e-48	1	1	0	A	100739611	C	A	100739611	3	1	22	1	0	0	0	0	1	0	0	0	261	681	24	2	2254	2	ADAMTS17	15	100739611	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147800	100739611	1791781	15253	17399											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	286					0	0	1	0	0	A	100821525	G	A	100821525	3	1	22	1	0	0	0	0	1	0	0	0	261	1145	40	1	2665	1	ADAMTS17	15	100821525	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81914	100821525	1709867	15254	17400											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	324					0	0	1	0	0	A	101448629	G	A	101448629	3	1	22	1	0	0	0	0	1	0	0	0	489	1087	38	1	1454	1	ALDH1A3	15	101448629	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	627104	101448629	1082763	15255	17401											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000388948.3_Missense_Mutation_p.R104C|LRRK1_ENST00000532029.2_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													112	546					0	0	1	0	0	T	101523781	C	T	101523781	3	4	22	1	0	0	0	0	1	0	0	0	9077	652	23	1	320	1	LRRK1	15	101523781	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75152	101523781	1007611	15256	17402											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	548					0	0	1	0	0	C	101552339	T	C	101552339	3	2	22	1	0	0	0	0	1	0	0	0	9077	1841	64	3	1442	3	LRRK1	15	101552339	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28558	101552339	979053	15257	17403											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	LRRK1_ENST00000388948.3_Missense_Mutation_p.L1608I|RP11-505E24.2_ENST00000559857.1_RNA			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													66	327					1.42676e-28	1.66098e-28	1	1	0	A	101602803	C	A	101602803	3	1	22	1	0	0	0	0	1	0	0	0	9077	681	24	2	4940	2	LRRK1	15	101602803	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50464	101602803	928589	15258	17404											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	LRRK1_ENST00000532145.1_3'UTR|LRRK1_ENST00000388948.3_Silent_p.P1729P|RP11-505E24.2_ENST00000559857.1_RNA			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													16	386					0.000422831	0.000428653	1	1	0	A	101605829	C	A	101605829	2	1	22	1	0	0	0	0	0	0	0	1	9077	668	24	2		2	LRRK1	15	101605829	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3026	101605829	925563	15259	17405											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	232					0	0	1	0	0	A	101821938	G	A	101821938	2	1	22	1	0	0	0	0	0	0	0	1	14914	1136	40	1		1	SNRPA1	15	101821938	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	216109	101821938	709454	15260	17406											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344273.2_Intron|PCSK6_ENST00000358417.3_Intron|PCSK6_ENST00000348070.1_Intron|PCSK6_ENST00000561177.1_Intron|PCSK6_ENST00000398181.2_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													5	112					0	0	1	0	0	G	101905197	A	G	101905197	2	3	22	1	0	0	0	0	0	0	0	1	11651	1	1	3		3	PCSK6	15	101905197	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	83259	101905197	626195	15261	17407											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344273.2_Missense_Mutation_p.G351R|PCSK6_ENST00000358417.3_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													55	226					0	0	1	0	0	T	101933572	C	T	101933572	3	4	22	1	0	0	0	0	1	0	0	0	11651	623	22	2	2394	2	PCSK6	15	101933572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28375	101933572	597820	15262	17408											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	175					0	0	1	0	0	G	102211926	A	G	102211926	3	3	22	1	0	0	0	0	1	0	0	0	15618	14	1	3	618	3	TARSL2	15	102211926	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	278354	102211926	319466	15263	17409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	128					0	0	1	0	0	A	102252167	G	A	102252167	3	1	22	1	0	0	0	0	1	0	0	0	15618	1203	42	2	1740	2	TARSL2	15	102252167	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40241	102252167	279225	15264	17410											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	151					0	0	1	0	0	T	108725	C	T	108725	3	4	22	1	0	0	0	0	1	0	0	0	13369	739	26	2	389	2	RHBDF1	16	108725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08		108725	90246028	15265	17411											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	157					0	0	1	0	0	T	112988	C	T	112988	3	4	22	1	0	0	0	0	1	0	0	0	13369	739	26	2	1968	2	RHBDF1	16	112988	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4263	112988	90241765	15266	17412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	70					0	0	1	0	0	C	113124	T	C	113124	2	2	22	1	0	0	0	0	0	0	0	1	13369	1606	56	3		3	RHBDF1	16	113124	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	136	113124	90241629	15267	17413											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	49					0	0	1	0	0	A	136767	G	A	136767	2	1	22	1	0	0	0	0	0	0	0	1	10646	1078	38	1		1	NPRL3	16	136767	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23643	136767	90217986	15268	17414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	64					0	0	1	0	0	A	150396	G	A	150396	2	1	22	1	0	0	0	0	0	0	0	1	10646	1335	47	2		2	NPRL3	16	150396	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13629	150396	90204357	15269	17415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	67					0	0	1	0	0	A	169169	G	A	169169	4	1	22	1	0	0	0	0	0	1	0	0	10646	1095	38	1	1478	1	NPRL3	16	169169	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18773	169169	90185584	15270	17416											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	182					0	0	1	0	0	T	231010	C	T	231010	3	4	22	1	0	0	0	0	1	0	0	0	7027	739	26	2	342	2	HBQ1	16	231010	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61841	231010	90123743	15271	17417											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600536.1_Silent_p.A9A|ITFG3_ENST00000442458.2_Silent_p.A9A|ITFG3_ENST00000450082.2_Silent_p.A9A|ITFG3_ENST00000301678.3_Silent_p.A9A|ITFG3_ENST00000301679.2_Silent_p.A9A			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	125	1222					0	0	1	0	0	T	304439	C	T	304439	2	4	22	1	0	0	0	0	0	0	0	1	7915	639	23	1		1	ITFG3	16	304439	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73429	304439	90050314	15272	17418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600536.1_Silent_p.S131S|ITFG3_ENST00000442458.2_Silent_p.S131S|ITFG3_ENST00000450082.2_Silent_p.S131S|ITFG3_ENST00000301678.3_Silent_p.S131S|ITFG3_ENST00000301679.2_Silent_p.S131S			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													49	178					1.38658e-30	1.62744e-30	1	1	0	A	309975	C	A	309975	2	1	22	1	0	0	0	0	0	0	0	1	7915	668	24	2		2	ITFG3	16	309975	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5536	309975	90044778	15273	17419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	79					0	0	1	0	0	A	331765	G	A	331765	2	1	22	1	0	0	0	0	0	0	0	1	889	991	35	2		2	ARHGDIG	16	331765	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21790	331765	90022988	15274	17420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000462950.1_3'UTR|PDIA2_ENST00000404312.1_Missense_Mutation_p.R288W	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													54	169					0	0	1	0	0	T	335387	C	T	335387	3	4	22	1	0	0	0	0	1	0	0	0	11715	643	23	1	893	1	PDIA2	16	335387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3622	335387	90019366	15275	17421											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Silent_p.A509A	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													24	97					0	0	1	0	0	A	347979	G	A	347979	2	1	22	1	0	0	0	0	0	0	0	1	1234	1103	39	1		1	AXIN1	16	347979	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12592	347979	90006774	15276	17422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Missense_Mutation_p.R349C	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													16	82					0	0	1	0	0	A	360044	G	A	360044	3	1	22	1	0	0	0	0	1	0	0	0	1234	1116	39	1	1575	1	AXIN1	16	360044	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12065	360044	89994709	15277	17423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	330					0	0	1	0	0	A	419132	G	A	419132	3	1	22	1	0	0	0	0	1	0	0	0	9841	1029	36	2	409	2	MRPL28	16	419132	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59088	419132	89935621	15278	17424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	161					0	0	1	0	0	A	426714	G	A	426714	3	1	22	1	0	0	0	0	1	0	0	0	16274	1116	39	1	1617	1	TMEM8A	16	426714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7582	426714	89928039	15279	17425											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450036.1_Missense_Mutation_p.R19W|NME4_ENST00000382940.4_Missense_Mutation_p.R97W|NME4_ENST00000219479.2_Missense_Mutation_p.R89W			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													240	841					0	0	1	0	0	T	449418	C	T	449418	3	4	22	1	0	0	0	0	1	0	0	0	10540	759	27	1	275	1	NME4	16	449418	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22704	449418	89905335	15280	17426											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	298					0	0	1	0	0	T	461408	C	T	461408	4	4	22	1	0	0	0	0	0	1	0	0	4406	711	25	2	739	2	DECR2	16	461408	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11990	461408	89893345	15281	17427											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450428.1_Silent_p.V36V|RAB11FIP3_ENST00000457159.1_Silent_p.V332V	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													65	242					0	0	1	0	0	A	532617	G	A	532617	2	1	22	1	0	0	0	0	0	0	0	1	12947	1306	46	2		2	RAB11FIP3	16	532617	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71209	532617	89822136	15282	17428											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409527.2_Missense_Mutation_p.V31M|PIGQ_ENST00000470411.2_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													58	155					0	0	1	0	0	A	624165	G	A	624165	3	1	22	1	0	0	0	0	1	0	0	0	11944	1145	40	1	93	1	PIGQ	16	624165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91548	624165	89730588	15283	17429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409527.2_Missense_Mutation_p.A330V|PIGQ_ENST00000544860.1_3'UTR|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													44	234					0	0	1	0	0	T	628425	C	T	628425	3	4	22	1	0	0	0	0	1	0	0	0	11944	797	28	2	1003	2	PIGQ	16	628425	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4260	628425	89726328	15284	17430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	1170					3.90053e-15	4.25374e-15	1	1	0	T	633231	G	T	633231	3	4	22	1	0	0	0	0	1	0	0	0	11944	1000	35	2	1980	2	PIGQ	16	633231	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4806	633231	89721522	15285	17431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	410					0	0	1	0	0	A	633554	G	A	633554	3	1	22	1	0	0	0	0	1	0	0	0	11944	1145	40	1	2303	1	PIGQ	16	633554	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	323	633554	89721199	15286	17432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000248139.3_Silent_p.I164I|RAB40C_ENST00000539661.1_Silent_p.I164I|RAB40C_ENST00000538492.1_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													101	430					0	0	1	0	0	T	676048	C	T	676048	2	4	22	1	0	0	0	0	0	0	0	1	12994	874	31	1		1	RAB40C	16	676048	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42494	676048	89678705	15287	17433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000248139.3_Missense_Mutation_p.S220N|RAB40C_ENST00000539661.1_Missense_Mutation_p.S220N|RAB40C_ENST00000538492.1_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													123	646					0	0	1	0	0	A	677435	G	A	677435	3	1	22	1	0	0	0	0	1	0	0	0	12994	971	34	2	681	2	RAB40C	16	677435	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1387	677435	89677318	15288	17434											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	213					0	0	1	0	0	G	697444	T	G	697444	2	3	22	1	0	0	0	0	0	0	0	1	5559	1683	59	3		3	FAM195A	16	697444	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20009	697444	89657309	15289	17435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	202					0	0	1	0	0	A	701862	G	A	701862	2	1	22	1	0	0	0	0	0	0	0	1	17397	1103	39	1		1	WDR90	16	701862	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4418	701862	89652891	15290	17436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	318					0	0	1	0	0	A	702503	G	A	702503	3	1	22	1	0	0	0	0	1	0	0	0	17397	1145	40	1	1128	1	WDR90	16	702503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	641	702503	89652250	15291	17437											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	85					0.00448238	0.00451339	1	1	0	A	705640	C	A	705640	3	1	22	1	0	0	0	0	1	0	0	0	17397	652	23	4	1848	4	WDR90	16	705640	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3137	705640	89649113	15292	17438											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	359					0	0	1	0	0	A	708580	G	A	708580	3	1	22	1	0	0	0	0	1	0	0	0	17397	1087	38	1	2912	1	WDR90	16	708580	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2940	708580	89646173	15293	17439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	335					3.07327e-39	3.71448e-39	1	1	0	A	708595	C	A	708595	3	1	22	1	0	0	0	0	1	0	0	0	17397	739	26	2	2927	2	WDR90	16	708595	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	708595	89646158	15294	17440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	194					6.88607e-10	7.27523e-10	1	1	0	T	718508	G	T	718508	3	4	22	1	0	0	0	0	1	0	0	0	13394	933	33	2	127	2	RHOT2	16	718508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9913	718508	89636245	15295	17441											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	261					0	0	1	0	0	A	720170	G	A	720170	2	1	22	1	0	0	0	0	0	0	0	1	13394	1190	42	2		2	RHOT2	16	720170	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1662	720170	89634583	15296	17442											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	417					0.0692343	0.0693721	1	1	0	T	721082	G	T	721082	5	4	22	1	0	0	0	0	0	0	1	0	13394	1014	35	2	790	2	RHOT2	16	721082	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	912	721082	89633671	15297	17443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	583					0	0	1	0	0	T	721923	C	T	721923	3	4	22	1	0	0	0	0	1	0	0	0	13394	739	26	2	1068	2	RHOT2	16	721923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	841	721923	89632830	15298	17444											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	563					0	0	1	0	0	T	721946	C	T	721946	2	4	22	1	0	0	0	0	0	0	0	1	13394	697	25	2		2	RHOT2	16	721946	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23	721946	89632807	15299	17445											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	46					0	0	1	0	0	A	734755	G	A	734755	2	1	22	1	0	0	0	0	0	0	0	1	17341	1190	42	2		2	WDR24	16	734755	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12809	734755	89619998	15300	17446											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	96					0	0	1	0	0	A	737061	T	A	737061	3	1	22	1	0	0	0	0	1	0	0	0	17341	1812	63	5	1385	5	WDR24	16	737061	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2306	737061	89617692	15301	17447											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	277					0	0	1	0	0	A	737187	G	A	737187	4	1	22	1	0	0	0	0	0	1	0	0	17341	1124	39	1	1511	1	WDR24	16	737187	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126	737187	89617566	15302	17448											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	216					0	0	1	0	0	A	739280	G	A	739280	3	1	22	1	0	0	0	0	1	0	0	0	17341	1087	38	1	2047	1	WDR24	16	739280	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2093	739280	89615473	15303	17449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	185					0	0	1	0	0	A	775563	G	A	775563	2	1	22	1	0	0	0	0	0	0	0	1	2872	1194	42	2		2	CCDC78	16	775563	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36283	775563	89579190	15304	17450											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000568545.1_Nonsense_Mutation_p.R65*|NARFL_ENST00000301694.5_Silent_p.S122S|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													96	361					0	0	1	0	0	A	784812	G	A	784812	4	1	22	1	0	0	0	0	0	1	0	0	10216	1095	38	1	959	1	NARFL	16	784812	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9249	784812	89569941	15305	17451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545450.2_Silent_p.F131F|MSLN_ENST00000382862.3_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													32	108					0	0	1	0	0	T	814919	C	T	814919	2	4	22	1	0	0	0	0	0	0	0	1	9929	912	32	2		2	MSLN	16	814919	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30107	814919	89539834	15306	17452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	281					0	0	1	0	0	T	819456	C	T	819456	3	4	22	1	0	0	0	0	1	0	0	0	9930	768	27	1	31	1	MSLNL	16	819456	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4537	819456	89535297	15307	17453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	84					0	0	1	0	0	T	820164	C	T	820164	3	4	22	1	0	0	0	0	1	0	0	0	9930	652	23	1	348	1	MSLNL	16	820164	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	708	820164	89534589	15308	17454											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000565809.1_3'UTR|RPUSD1_ENST00000567114.1_Silent_p.C108C|RPUSD1_ENST00000007264.2_Silent_p.C237C			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													23	505					0	0	1	0	0	A	836178	G	A	836178	2	1	22	1	0	0	0	0	0	0	0	1	13718	963	34	2		2	RPUSD1	16	836178	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16014	836178	89518575	15309	17455											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000565809.1_3'UTR|RPUSD1_ENST00000567114.1_Silent_p.Y64Y|RPUSD1_ENST00000007264.2_Silent_p.Y193Y			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													14	580					0	0	1	0	0	A	836310	G	A	836310	2	1	22	1	0	0	0	0	0	0	0	1	13718	1140	40	1		1	RPUSD1	16	836310	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132	836310	89518443	15310	17456											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000262315.9_Nonsense_Mutation_p.E149*|CHTF18_ENST00000455171.2_Nonsense_Mutation_p.E177*|CHTF18_ENST00000491530.1_3'UTR			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													72	348					5.21738e-30	6.11032e-30	1	1	0	T	839554	G	T	839554	4	4	22	1	0	0	0	0	0	1	0	0	3436	943	33	2	459	2	CHTF18	16	839554	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3244	839554	89515199	15311	17457											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000262315.9_Missense_Mutation_p.A400T|CHTF18_ENST00000455171.2_Missense_Mutation_p.A428T			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													10	71					0	0	1	0	0	A	841944	G	A	841944	3	1	22	1	0	0	0	0	1	0	0	0	3436	1087	38	1	1232	1	CHTF18	16	841944	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2390	841944	89512809	15312	17458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000568897.1_Missense_Mutation_p.S117Y|LMF1_ENST00000399843.2_Missense_Mutation_p.S334Y|LMF1_ENST00000543238.1_Missense_Mutation_p.S97Y|LMF1_ENST00000568268.1_5'UTR	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													8	106					5.18039e-06	5.32547e-06	1	1	0	T	921238	G	T	921238	3	4	22	1	0	0	0	0	1	0	0	0	8886	942	33	2	722	2	LMF1	16	921238	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79294	921238	89433515	15313	17459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	199					0	0	1	0	0	A	1034862	G	A	1034862	3	1	22	1	0	0	0	0	1	0	0	0	15011	1261	44	2	827	2	SOX8	16	1034862	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113624	1034862	89319891	15314	17460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	61					1.99824e-07	2.07512e-07	1	1	0	T	1034993	G	T	1034993	3	4	22	1	0	0	0	0	1	0	0	0	15011	1241	43	2	958	2	SOX8	16	1034993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131	1034993	89319760	15315	17461											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	69					0	0	1	0	0	T	1035032	C	T	1035032	2	4	22	1	0	0	0	0	0	0	0	1	15011	639	23	1		1	SOX8	16	1035032	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39	1035032	89319721	15316	17462											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	305					0	0	1	0	0	A	1129206	G	A	1129206	3	1	22	1	0	0	0	0	1	0	0	0	15257	1087	38	1	340	1	SSTR5	16	1129206	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94174	1129206	89225547	15317	17463											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	108					0	0	1	0	0	T	1129417	C	T	1129417	2	4	22	1	0	0	0	0	0	0	0	1	15257	755	27	1		1	SSTR5	16	1129417	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211	1129417	89225336	15318	17464											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	141					0	0	1	0	0	T	1129482	C	T	1129482	3	4	22	1	0	0	0	0	1	0	0	0	15257	536	19	1	616	1	SSTR5	16	1129482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65	1129482	89225271	15319	17465											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	336					0	0	1	0	0	A	1129709	G	A	1129709	3	1	22	1	0	0	0	0	1	0	0	0	15257	1087	38	1	843	1	SSTR5	16	1129709	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227	1129709	89225044	15320	17466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	98					0	0	1	0	0	T	1129926	C	T	1129926	3	4	22	1	0	0	0	0	1	0	0	0	15257	739	26	2	1060	2	SSTR5	16	1129926	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217	1129926	89224827	15321	17467											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	162					0	0	1	0	0	A	1306840	G	A	1306840	2	1	22	1	0	0	0	0	0	0	0	1	16486	962	34	2		2	TPSD1	16	1306840	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	176914	1306840	89047913	15322	17468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000421665.2_Missense_Mutation_p.R502H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R515H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R510H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R555H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R538H	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													129	427					0	0	1	0	0	A	1394480	G	A	1394480	3	1	22	1	0	0	0	0	1	0	0	0	1302	1145	40	1	1788	1	BAIAP3	16	1394480	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87640	1394480	88960273	15323	17469											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000421665.2_Silent_p.C733C|BAIAP3_ENST00000562208.1_Silent_p.C746C|BAIAP3_ENST00000568887.1_Silent_p.C741C|BAIAP3_ENST00000397488.2_Silent_p.C786C|BAIAP3_ENST00000426824.3_Silent_p.C769C	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													23	169					0	0	1	0	0	T	1396176	C	T	1396176	2	4	22	1	0	0	0	0	0	0	0	1	1302	776	27	1		1	BAIAP3	16	1396176	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1696	1396176	88958577	15324	17470											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000421665.2_Splice_Site|BAIAP3_ENST00000562208.1_Splice_Site|BAIAP3_ENST00000568887.1_Splice_Site|BAIAP3_ENST00000397488.2_Splice_Site|BAIAP3_ENST00000426824.3_Splice_Site|BAIAP3_ENST00000564213.1_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													9	140					4.68919e-08	4.88816e-08	1	1	0	T	1397298	G	T	1397298	5	4	22	1	0	0	0	0	0	0	1	0	1302	1014	35	2	2970	2	BAIAP3	16	1397298	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1122	1397298	88957455	15325	17471											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000421665.2_Missense_Mutation_p.R993H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1006H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1001H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1046H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1029H	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													126	593					0	0	1	0	0	A	1397955	G	A	1397955	3	1	22	1	0	0	0	0	1	0	0	0	1302	1087	38	1	3317	1	BAIAP3	16	1397955	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	657	1397955	88956798	15326	17472											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000421665.2_Missense_Mutation_p.R1024H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1037H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1032H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1077H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1060H	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													13	256					0	0	1	0	0	A	1398126	G	A	1398126	3	1	22	1	0	0	0	0	1	0	0	0	1302	1087	38	1	3414	1	BAIAP3	16	1398126	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	171	1398126	88956627	15327	17473											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448525.1_Missense_Mutation_p.R385Q|CLCN7_ENST00000262318.8_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													12	40					0	0	1	0	0	T	1502883	C	T	1502883	3	4	22	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	15328	17474											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448525.1_Missense_Mutation_p.S208F|CLCN7_ENST00000262318.8_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													74	338					0	0	1	0	0	A	1507738	G	A	1507738	3	1	22	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	15329	17475											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1509188G>A	ENST00000382745.4	-	7	1200	c.594_splice	c.e7-1	p.P199_splice	CLCN7_ENST00000448525.1_Splice_Site_p.P175_splice|CLCN7_ENST00000262318.8_Splice_Site_p.P175_splice	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													32	139					0	0	1	0	0	A	1509188	G	A	1509188	5	1	22	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	15330	17476											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.P231L			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													66	286					0	0	1	0	0	A	1537406	G	A	1537406	3	1	22	1	0	0	0	0	1	0	0	0	12875	1000	35	2	736	2	PTX4	16	1537406	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28218	1537406	88817347	15331	17477											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	360					0	0	1	0	0	T	1538395	C	T	1538395	3	4	22	1	0	0	0	0	1	0	0	0	12875	768	27	1	1358	1	PTX4	16	1538395	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	989	1538395	88816358	15332	17478											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	114					0	0	1	0	0	A	1551487	G	A	1551487	3	1	22	1	0	0	0	0	1	0	0	0	15816	1087	38	1	1382	1	TELO2	16	1551487	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13092	1551487	88803266	15333	17479											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	160					0	0	1	0	0	A	1573949	G	A	1573949	2	1	22	1	0	0	0	0	0	0	0	1	7600	1190	42	2		2	IFT140	16	1573949	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22462	1573949	88780804	15334	17480											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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)	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													97	449					1.46924e-35	1.75473e-35	1	1	0	T	1636214	G	T	1636214	3	4	22	1	0	0	0	0	1	0	0	0	7600	991	35	2	3404	2	IFT140	16	1636214	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62265	1636214	88718539	15335	17481											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	289					0	0	1	0	0	C	1691164	A	C	1691164	3	2	22	1	0	0	0	0	1	0	0	0	3869	72	3	3	821	3	CRAMP1L	16	1691164	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	54950	1691164	88663589	15336	17482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.I356V|LA16c-431H6.6_ENST00000454337.1_3'UTR			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													9	325					0	0	1	0	0	G	1705257	A	G	1705257	3	3	22	1	0	0	0	0	1	0	0	0	3869	217	8	3	1105	3	CRAMP1L	16	1705257	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14093	1705257	88649496	15337	17483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	154					0	0	1	0	0	T	1756509	C	T	1756509	3	4	22	1	0	0	0	0	1	0	0	0	9336	739	26	2	171	2	MAPK8IP3	16	1756509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51252	1756509	88598244	15338	17484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	432					3.04226e-33	3.60366e-33	1	1	0	A	1816924	C	A	1816924	3	1	22	1	0	0	0	0	1	0	0	0	9336	796	28	2	3151	2	MAPK8IP3	16	1816924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60415	1816924	88537829	15339	17485											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													151	623					0	0	1	0	0	C	1817158	T	C	1817158	3	2	22	1	0	0	0	0	1	0	0	0	9336	1696	59	3	3212	3	MAPK8IP3	16	1817158	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	234	1817158	88537595	15340	17486											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	440					1.37074e-43	1.67417e-43	1	1	0	A	1822318	C	A	1822318	3	1	22	1	0	0	0	0	1	0	0	0	9892	680	24	2	99	2	MRPS34	16	1822318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5160	1822318	88532435	15341	17487											
EME2	197342	broad.mit.edu	37	chr16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-													ggctgcaggtgaacaggaatTgctgctgctgctggagcccg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1824298_1824300delTGC	ENST00000307394.7	+	3	422_424	c.422_424delTGC	c.(421-426)ttg>t	p.LL143del	EME2_ENST00000568449.1_In_Frame_Del_p.LL143del			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	143					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination					8	593	---	---	---	---						-	1824300	TGC	-	1824298	7	5	22	1	0	1	0	1	0	0	0	0	5117	1821	63	0	432	0	EME2	16	1824298	In_Frame_Del	DEL	TGC	TCGA-IB-7651-01A-11D-2154-08	1980	1824298	88530455	15342	17488											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					68	409					9.4991e-31	1.11549e-30	1	1	0	A	1825702	C	A	1825702	3	1	22	1	0	0	0	0	1	0	0	0	5117	796	28	2	971	2	EME2	16	1825702	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1404	1825702	88529051	15343	17489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	408					0	0	1	0	0	T	1827164	C	T	1827164	2	4	22	1	0	0	0	0	0	0	0	1	15170	871	31	1		1	SPSB3	16	1827164	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1462	1827164	88527589	15344	17490											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	216					4.0306e-16	4.4197e-16	1	1	0	A	1827764	C	A	1827764	3	1	22	1	0	0	0	0	1	0	0	0	15170	912	32	2	370	2	SPSB3	16	1827764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	600	1827764	88526989	15345	17491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	260					0	0	1	0	0	T	1827983	C	T	1827983	3	4	22	1	0	0	0	0	1	0	0	0	15170	623	22	2	520	2	SPSB3	16	1827983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219	1827983	88526770	15346	17492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	132					0	0	1	0	0	T	1841445	C	T	1841445	3	4	22	1	0	0	0	0	1	0	0	0	7621	768	27	1	847	1	IGFALS	16	1841445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13462	1841445	88513308	15347	17493											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397356.3_Missense_Mutation_p.E235K|HAGH_ENST00000397353.2_Missense_Mutation_p.E187K|HAGH_ENST00000566709.1_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													35	179					0	0	1	0	0	T	1866938	C	T	1866938	4	4	22	1	0	0	0	0	0	1	0	0	6986	864	30	2	235	2	HAGH	16	1866938	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25493	1866938	88487815	15348	17494											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	239					1.86277e-20	2.08787e-20	1	1	0	T	1877337	G	T	1877337	3	4	22	1	0	0	0	0	1	0	0	0	5403	971	34	2	109	2	FAHD1	16	1877337	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10399	1877337	88477416	15349	17495											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	405					8.05857e-52	1.00114e-51	1	1	0	A	1995840	C	A	1995840	3	1	22	1	0	0	0	0	1	0	0	0	13646	913	32	2	192	2	RPL3L	16	1995840	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118503	1995840	88358913	15350	17496											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	508					0	0	1	0	0	T	1997042	C	T	1997042	3	4	22	1	0	0	0	0	1	0	0	0	13646	768	27	1	497	1	RPL3L	16	1997042	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1202	1997042	88357711	15351	17497											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000567719.1_Missense_Mutation_p.R104H|GFER_ENST00000569451.1_3'UTR	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													66	616					0	0	1	0	0	A	2035947	G	A	2035947	3	1	22	1	0	0	0	0	1	0	0	0	6380	1087	38	1	546	1	GFER	16	2035947	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38905	2035947	88318806	15352	17498											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000567719.1_Silent_p.F111F|GFER_ENST00000569451.1_3'UTR	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													114	521					0	0	1	0	0	T	2035969	C	T	2035969	2	4	22	1	0	0	0	0	0	0	0	1	6380	883	31	1		1	GFER	16	2035969	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	2035969	88318784	15353	17499											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	103					0	0	1	0	0	A	2042719	G	A	2042719	3	1	22	1	0	0	0	0	1	0	0	0	15507	1074	38	1	430	1	SYNGR3	16	2042719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6750	2042719	88312034	15354	17500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	133					0	0	1	0	0	C	2042976	T	C	2042976	3	2	22	1	0	0	0	0	1	0	0	0	15507	1696	59	3	607	3	SYNGR3	16	2042976	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	257	2042976	88311777	15355	17501											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431526.1_Missense_Mutation_p.A822T|ZNF598_ENST00000562103.1_Missense_Mutation_p.A767T			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													67	230					0	0	1	0	0	T	2048484	C	T	2048484	3	4	22	1	0	0	0	0	1	0	0	0	18085	739	26	2	254	2	ZNF598	16	2048484	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5508	2048484	88306269	15356	17502	110	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431526.1_Silent_p.T821T|ZNF598_ENST00000562103.1_Silent_p.T766T			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													65	230					0	0	1	0	0	T	2048485	C	T	2048485	2	4	22	1	0	0	0	0	0	0	0	1	18085	639	23	1		1	ZNF598	16	2048485	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1	2048485	88306268	15357	17503	110	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431526.1_Silent_p.L653L|ZNF598_ENST00000562103.1_Silent_p.L598L			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													30	129					0	0	1	0	0	A	2049591	G	A	2049591	2	1	22	1	0	0	0	0	0	0	0	1	18085	1161	41	2		2	ZNF598	16	2049591	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1106	2049591	88305162	15358	17504											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000566198.1_Missense_Mutation_p.A211V|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A311V|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A216V	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													17	94					0	0	1	0	0	T	2087936	C	T	2087936	3	4	22	1	0	0	0	0	1	0	0	0	14770	768	27	1	991	1	SLC9A3R2	16	2087936	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38345	2087936	88266817	15359	17505											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					44	172					0	0	1	0	0	A	2094713	G	A	2094713	3	1	22	1	0	0	0	0	1	0	0	0	10746	1087	38	1	487	1	NTHL1	16	2094713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6777	2094713	88260040	15360	17506											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					10	694					0.000442599	0.000448314	1	1	0	T	2096182	G	T	2096182	3	4	22	1	0	0	0	0	1	0	0	0	10746	1261	44	2	633	2	NTHL1	16	2096182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1469	2096182	88258571	15361	17507											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382538.6_Silent_p.L399L|TSC2_ENST00000350773.4_Silent_p.L448L|TSC2_ENST00000401874.2_Silent_p.L448L|TSC2_ENST00000439673.2_Silent_p.L411L|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				12	59					0	0	1	0	0	T	2112582	C	T	2112582	2	4	22	1	0	0	0	0	0	0	0	1	16667	796	28	2		2	TSC2	16	2112582	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16400	2112582	88242171	15362	17508											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382538.6_Missense_Mutation_p.A558V|TSC2_ENST00000350773.4_Missense_Mutation_p.A607V|TSC2_ENST00000401874.2_Missense_Mutation_p.A607V|TSC2_ENST00000439673.2_Missense_Mutation_p.A570V|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				70	286					0	0	1	0	0	T	2120560	C	T	2120560	3	4	22	1	0	0	0	0	1	0	0	0	16667	768	27	1	1882	1	TSC2	16	2120560	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7978	2120560	88234193	15363	17509											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382538.6_Silent_p.V740V|TSC2_ENST00000350773.4_Silent_p.V789V|TSC2_ENST00000401874.2_Silent_p.V789V|TSC2_ENST00000439673.2_Silent_p.V752V|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				41	197					1.02687e-29	1.20094e-29	1	1	0	A	2124212	C	A	2124212	2	1	22	1	0	0	0	0	0	0	0	1	16667	900	32	2		2	TSC2	16	2124212	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3652	2124212	88230541	15364	17510											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382538.6_Missense_Mutation_p.S953F|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000350773.4_Missense_Mutation_p.S1045F|TSC2_ENST00000401874.2_Missense_Mutation_p.S1001F|TSC2_ENST00000439673.2_Missense_Mutation_p.S965F|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				87	362					0	0	1	0	0	T	2129279	C	T	2129279	3	4	22	1	0	0	0	0	1	0	0	0	16667	913	32	2	3240	2	TSC2	16	2129279	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5067	2129279	88225474	15365	17511											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382538.6_Missense_Mutation_p.V1052M|TSC2_ENST00000350773.4_Missense_Mutation_p.V1144M|TSC2_ENST00000401874.2_Missense_Mutation_p.V1100M|TSC2_ENST00000439673.2_Missense_Mutation_p.V1064M|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				17	1075					0	0	1	0	0	A	2130198	G	A	2130198	3	1	22	1	0	0	0	0	1	0	0	0	16667	1145	40	1	3544	1	TSC2	16	2130198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	919	2130198	88224555	15366	17512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382538.6_Silent_p.V1095V|TSC2_ENST00000350773.4_Silent_p.V1187V|TSC2_ENST00000401874.2_Silent_p.V1143V|TSC2_ENST00000439673.2_Silent_p.V1107V|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				103	451					0	0	1	0	0	A	2130329	G	A	2130329	2	1	22	1	0	0	0	0	0	0	0	1	16667	1306	46	2		2	TSC2	16	2130329	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131	2130329	88224424	15367	17513											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382538.6_Missense_Mutation_p.E1228D|TSC2_ENST00000350773.4_Missense_Mutation_p.E1320D|TSC2_ENST00000401874.2_Missense_Mutation_p.E1276D|TSC2_ENST00000439673.2_Missense_Mutation_p.E1240D|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				25	63					1.85244e-09	1.95034e-09	1	1	0	T	2134252	G	T	2134252	3	4	22	1	0	0	0	0	1	0	0	0	16667	991	35	2	4159	2	TSC2	16	2134252	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3923	2134252	88220501	15368	17514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382538.6_Missense_Mutation_p.D1475N|TSC2_ENST00000350773.4_Missense_Mutation_p.D1567N|TSC2_ENST00000401874.2_Missense_Mutation_p.D1523N|TSC2_ENST00000439673.2_Missense_Mutation_p.D1487N|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				59	222					0	0	1	0	0	A	2136299	G	A	2136299	3	1	22	1	0	0	0	0	1	0	0	0	16667	1174	41	2	4910	2	TSC2	16	2136299	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2047	2136299	88218454	15369	17515											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001009944.2	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													33	845					0	0	1	0	0	A	2143020	G	A	2143020	2	1	22	1	0	0	0	0	0	0	0	1	12011	1136	40	1		1	PKD1	16	2143020	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6721	2143020	88211733	15370	17516											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001009944.2	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													176	811					0	0	1	0	0	T	2147772	C	T	2147772	3	4	22	1	0	0	0	0	1	0	0	0	12011	478	17	2	2794	2	PKD1	16	2147772	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4752	2147772	88206981	15371	17517											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001009944.2	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													29	98					0	0	1	0	0	T	2147955	C	T	2147955	3	4	22	1	0	0	0	0	1	0	0	0	12011	652	23	1	2894	1	PKD1	16	2147955	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	183	2147955	88206798	15372	17518											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001009944.2	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													176	687					1.10422e-86	1.41595e-86	1	1	0	T	2153410	G	T	2153410	3	4	22	1	0	0	0	0	1	0	0	0	12011	971	34	2	4359	2	PKD1	16	2153410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5455	2153410	88201343	15373	17519											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.R2732Q	NM_001009944.2	NP_001009944.2	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													23	96					0	0	1	0	0	T	2153863	C	T	2153863	3	4	22	1	0	0	0	0	1	0	0	0	12011	652	23	1	4812	1	PKD1	16	2153863	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	453	2153863	88200890	15374	17520											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001009944.2	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													123	460					0	0	1	0	0	A	2160529	G	A	2160529	3	1	22	1	0	0	0	0	1	0	0	0	12011	1087	38	1	8400	1	PKD1	16	2160529	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6666	2160529	88194224	15375	17521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001009944.2	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													19	75					0	0	1	0	0	T	2161761	C	T	2161761	3	4	22	1	0	0	0	0	1	0	0	0	12011	739	26	2	9632	2	PKD1	16	2161761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1232	2161761	88192992	15376	17522											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001009944.2	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													27	88					0	0	1	0	0	A	2161784	G	A	2161784	2	1	22	1	0	0	0	0	0	0	0	1	12011	1103	39	1		1	PKD1	16	2161784	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	2161784	88192969	15377	17523											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001009944.2	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													39	141					0	0	1	0	0	G	2164407	C	G	2164407	3	3	22	1	0	0	0	0	1	0	0	0	12011	478	17	5	10438	5	PKD1	16	2164407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2623	2164407	88190346	15378	17524											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001009944.2	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													31	109					0	0	1	0	0	T	2164529	C	T	2164529	3	4	22	1	0	0	0	0	1	0	0	0	12011	768	27	1	10560	1	PKD1	16	2164529	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122	2164529	88190224	15379	17525											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001009944.2	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													42	109					0	0	1	0	0	T	2168027	C	T	2168027	2	4	22	1	0	0	0	0	0	0	0	1	12011	755	27	1		1	PKD1	16	2168027	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3498	2168027	88186726	15380	17526											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001009944.2	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													30	116					0	0	1	0	0	T	2168110	C	T	2168110	3	4	22	1	0	0	0	0	1	0	0	0	12011	768	27	1	12196	1	PKD1	16	2168110	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83	2168110	88186643	15381	17527											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	223					0	0	1	0	0	T	2223366	C	T	2223366	2	4	22	1	0	0	0	0	0	0	0	1	16507	874	31	1		1	TRAF7	16	2223366	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55256	2223366	88131387	15382	17528											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	213					0	0	1	0	0	T	2223811	C	T	2223811	3	4	22	1	0	0	0	0	1	0	0	0	16507	768	27	1	1151	1	TRAF7	16	2223811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	445	2223811	88130942	15383	17529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	288					0	0	1	0	0	T	2236773	C	T	2236773	3	4	22	1	0	0	0	0	1	0	0	0	2684	652	23	1	3356	1	CASKIN1	16	2236773	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12962	2236773	88117980	15384	17530											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	286					0	0	1	0	0	T	2236819	C	T	2236819	3	4	22	1	0	0	0	0	1	0	0	0	2684	893	31	1	3402	1	CASKIN1	16	2236819	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46	2236819	88117934	15385	17531											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	349					4.14922e-12	4.44601e-12	1	1	0	A	2237180	C	A	2237180	3	1	22	1	0	0	0	0	1	0	0	0	2684	796	28	2	3525	2	CASKIN1	16	2237180	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	361	2237180	88117573	15386	17532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	196					0	0	1	0	0	T	2239246	C	T	2239246	3	4	22	1	0	0	0	0	1	0	0	0	2684	768	27	1	3880	1	CASKIN1	16	2239246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2066	2239246	88115507	15387	17533											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000564088.1_Silent_p.I57I|MLST8_ENST00000301724.10_Silent_p.I57I|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000382450.4_Silent_p.I56I|MLST8_ENST00000301725.7_Silent_p.I76I|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													69	354					0	0	1	0	0	C	2256400	T	C	2256400	2	2	22	1	0	0	0	0	0	0	0	1	9682	1800	63	3		3	MLST8	16	2256400	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17154	2256400	88098353	15388	17534											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	92					0	0	1	0	0	A	2264199	G	A	2264199	2	1	22	1	0	0	0	0	0	0	0	1	11850	991	35	2		2	PGP	16	2264199	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7799	2264199	88090554	15389	17535	111	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	96					0	0	1	0	0	A	2264203	G	A	2264203	2	1	22	1	0	0	0	0	0	0	0	1	11850	958	34	2		2	PGP	16	2264203	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4	2264203	88090550	15390	17536	111	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													220	792					0	0	1	0	0	A	2279622	G	A	2279622	3	1	22	1	0	0	0	0	1	0	0	0	4900	1145	40	1	371	1	E4F1	16	2279622	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15419	2279622	88075131	15391	17537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	356					0	0	1	0	0	A	2328417	G	A	2328417	2	1	22	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	15392	17538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	513					0	0	1	0	0	A	2334403	G	A	2334403	3	1	22	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	15393	17539											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2347331G>A	ENST00000301732.5	-	17	2962	c.2263_splice	c.e17+1	p.Y754_splice	ABCA3_ENST00000382381.3_Splice_Site_p.Y696_splice	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													66	243					0	0	1	0	0	A	2347331	G	A	2347331	5	1	22	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	15394	17540											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	462					0	0	1	0	0	A	2347394	G	A	2347394	2	1	22	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	15395	17541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	227					0	0	1	0	0	A	2358456	G	A	2358456	3	1	22	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	15396	17542											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	245					0	0	1	0	0	C	2499376	T	C	2499376	3	2	22	1	0	0	0	0	1	0	0	0	2944	1551	54	3	1358	3	CCNF	16	2499376	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	140920	2499376	87855377	15397	17543											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000563531.1_Missense_Mutation_p.S114Y|C16orf59_ENST00000361837.4_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													82	315					3.73172e-31	4.38876e-31	1	1	0	A	2510961	C	A	2510961	3	1	22	1	0	0	0	0	1	0	0	0	1830	913	32	2	355	2	C16orf59	16	2510961	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11585	2510961	87843792	15398	17544	112	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000563531.1_Missense_Mutation_p.T117M|C16orf59_ENST00000361837.4_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													81	297					0	0	1	0	0	T	2510970	C	T	2510970	3	4	22	1	0	0	0	0	1	0	0	0	1830	536	19	1	364	1	C16orf59	16	2510970	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9	2510970	87843783	15399	17545	112	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000563531.1_Silent_p.R156R|C16orf59_ENST00000361837.4_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													28	282					0	0	1	0	0	A	2511088	G	A	2511088	1	1	22	1	0	0	0	0	0	0	0	0	1830	1190	42	2		2	C16orf59	16	2511088	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118	2511088	87843665	15400	17546											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	305					0	0	1	0	0	A	2522417	G	A	2522417	3	1	22	1	0	0	0	0	1	0	0	0	10749	1145	40	1	717	1	NTN3	16	2522417	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11329	2522417	87832336	15401	17547											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	632					0	0	1	0	0	C	2522741	A	C	2522741	3	2	22	1	0	0	0	0	1	0	0	0	10749	43	2	3	974	3	NTN3	16	2522741	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	324	2522741	87832012	15402	17548											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2523431C>A	ENST00000293973.1	+	5	1523	c.1318_splice	c.e5-1	p.D440_splice		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													150	729					2.98797e-67	3.78391e-67	1	1	0	A	2523431	C	A	2523431	5	1	22	1	0	0	0	0	0	0	1	0	10749	579	20	2	1338	2	NTN3	16	2523431	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	690	2523431	87831322	15403	17549											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.A246V|TBC1D24_ENST00000434757.2_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													42	419					0	0	1	0	0	T	2546886	C	T	2546886	3	4	22	1	0	0	0	0	1	0	0	0	15671	739	26	2	739	2	TBC1D24	16	2546886	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23455	2546886	87807867	15404	17550											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413459.3_Silent_p.R56R|AMDHD2_ENST00000293971.6_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													81	306					0	0	1	0	0	A	2570854	G	A	2570854	2	1	22	1	0	0	0	0	0	0	0	1	564	1219	43	2		2	AMDHD2	16	2570854	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23968	2570854	87783899	15405	17551											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000565480.1_Intron|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000567119.1_Missense_Mutation_p.A58T|AMDHD2_ENST00000413459.3_3'UTR			Q6PRD7	CEMP1_HUMAN	cementum protein 1	58						cytoplasm				lung(1)|skin(1)	2						TTGACGGCCGCGCACCCCTTA	0.662													65	250					0	0	1	0	0	T	2580903	C	T	2580903	3	4	22	1	0	0	0	0	1	0	0	0	3246	768	27	1	575	1	CEMP1	16	2580903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10049	2580903	87773850	15406	17552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	271					0	0	1	0	0	T	2812144	C	T	2812144	4	4	22	1	0	0	0	0	0	1	0	0	15225	760	27	1	1653	1	SRRM2	16	2812144	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	231241	2812144	87542609	15407	17553											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	209					0	0	1	0	0	T	2812267	C	T	2812267	3	4	22	1	0	0	0	0	1	0	0	0	15225	652	23	1	1776	1	SRRM2	16	2812267	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123	2812267	87542486	15408	17554											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	222					0	0	1	0	0	T	2815936	C	T	2815936	3	4	22	1	0	0	0	0	1	0	0	0	15225	759	27	1	5445	1	SRRM2	16	2815936	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3669	2815936	87538817	15409	17555											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	324					0	0	1	0	0	C	2817777	A	C	2817777	3	2	22	1	0	0	0	0	1	0	0	0	15225	98	4	3	7286	3	SRRM2	16	2817777	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1841	2817777	87536976	15410	17556											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	165					0	0	1	0	0	A	2822078	G	A	2822078	3	1	22	1	0	0	0	0	1	0	0	0	15740	1048	37	1	227	1	TCEB2	16	2822078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4301	2822078	87532675	15411	17557											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	96					0	0	1	0	0	A	2867430	G	A	2867430	5	1	22	1	0	0	0	0	0	0	1	0	12667	956	33	2	70	2	PRSS21	16	2867430	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45352	2867430	87487323	15412	17558											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	107					3.59834e-05	3.67436e-05	1	1	0	T	2880318	G	T	2880318	3	4	22	1	0	0	0	0	1	0	0	0	17730	1029	36	2	72	2	ZG16B	16	2880318	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12888	2880318	87474435	15413	17559											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	123					0	0	1	0	0	T	2983257	C	T	2983257	3	4	22	1	0	0	0	0	1	0	0	0	5980	768	27	1	930	1	FLYWCH1	16	2983257	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102939	2983257	87371496	15414	17560											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PAQR4_ENST00000576565.1_Missense_Mutation_p.R156H|PAQR4_ENST00000572687.1_Missense_Mutation_p.R149H|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Missense_Mutation_p.R184H|PAQR4_ENST00000574988.1_Missense_Mutation_p.R156H	NM_152341.3	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													30	323					0	0	1	0	0	A	3021795	G	A	3021795	3	1	22	1	0	0	0	0	1	0	0	0	11484	1145	40	1	678	1	PAQR4	16	3021795	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38538	3021795	87332958	15415	17561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PAQR4_ENST00000576565.1_Silent_p.Q174Q|PAQR4_ENST00000572687.1_Silent_p.Q167Q|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Silent_p.Q202Q|PAQR4_ENST00000574988.1_Silent_p.Q174Q	NM_152341.3	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													57	232					0	0	1	0	0	A	3021850	G	A	3021850	2	1	22	1	0	0	0	0	0	0	0	1	11484	933	33	2		2	PAQR4	16	3021850	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55	3021850	87332903	15416	17562											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PKMYT1_ENST00000574385.1_Missense_Mutation_p.T490I|PKMYT1_ENST00000573944.1_Missense_Mutation_p.T490I|PAQR4_ENST00000572687.1_3'UTR|PKMYT1_ENST00000431515.2_Intron|PKMYT1_ENST00000574730.1_Missense_Mutation_p.T430I|PKMYT1_ENST00000440027.2_3'UTR|PAQR4_ENST00000293978.8_3'UTR|PAQR4_ENST00000318782.8_3'UTR	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													18	82					0	0	1	0	0	A	3022958	G	A	3022958	3	1	22	1	0	0	0	0	1	0	0	0	12026	1261	44	2	7	2	PKMYT1	16	3022958	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1108	3022958	87331795	15417	17563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000574385.1_Nonsense_Mutation_p.E81*|PKMYT1_ENST00000262300.8_Nonsense_Mutation_p.E90*|PKMYT1_ENST00000573944.1_Nonsense_Mutation_p.E81*|PKMYT1_ENST00000574730.1_Nonsense_Mutation_p.E21*|PKMYT1_ENST00000440027.2_Nonsense_Mutation_p.E90*			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													23	53					5.35356e-11	5.69577e-11	1	1	0	A	3026775	C	A	3026775	4	1	22	1	0	0	0	0	0	1	0	0	12026	922	32	2	1297	2	PKMYT1	16	3026775	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3817	3026775	87327978	15418	17564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	323					0	0	1	0	0	T	3063599	C	T	3063599	3	4	22	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	15419	17565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000573001.1_Missense_Mutation_p.S5F|TNFRSF12A_ENST00000575124.1_Intron|TNFRSF12A_ENST00000341627.5_Intron	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													24	97					0	0	1	0	0	T	3071282	C	T	3071282	3	4	22	1	0	0	0	0	1	0	0	0	16346	913	32	2	167	2	TNFRSF12A	16	3071282	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7683	3071282	87283471	15420	17566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000575576.1_Missense_Mutation_p.H148R|THOC6_ENST00000253952.9_Missense_Mutation_p.H172R|THOC6_ENST00000574549.1_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													32	109					0	0	1	0	0	G	3076711	A	G	3076711	3	3	22	1	0	0	0	0	1	0	0	0	15929	159	6	3	545	3	THOC6	16	3076711	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5429	3076711	87278042	15421	17567	113	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000575576.1_Missense_Mutation_p.A151T|THOC6_ENST00000253952.9_Missense_Mutation_p.A175T|THOC6_ENST00000574549.1_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													6	136					0	0	1	0	0	A	3076719	G	A	3076719	3	1	22	1	0	0	0	0	1	0	0	0	15929	1203	42	2	553	2	THOC6	16	3076719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	3076719	87278034	15422	17568	113	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	12					0	0	1	0	0	A	3078764	G	A	3078764	3	1	22	1	0	0	0	0	1	0	0	0	2856	1087	38	1	363	1	CCDC64B	16	3078764	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2045	3078764	87275989	15423	17569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	330					0	0	1	0	0	A	3100403	G	A	3100403	3	1	22	1	0	0	0	0	1	0	0	0	9711	1058	37	1	531	1	MMP25	16	3100403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21639	3100403	87254350	15424	17570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440815.3_Intron|IL32_ENST00000530890.1_Intron|IL32_ENST00000008180.9_Intron|IL32_ENST00000529550.1_Intron|IL32_ENST00000528163.2_Intron|IL32_ENST00000530538.2_Intron|IL32_ENST00000325568.5_Intron|IL32_ENST00000531965.1_Intron|IL32_ENST00000529699.1_Intron|IL32_ENST00000396890.2_Missense_Mutation_p.L21F|IL32_ENST00000444393.3_Intron|IL32_ENST00000552664.1_Intron|IL32_ENST00000525643.2_Intron|IL32_ENST00000551122.1_Intron|IL32_ENST00000382213.3_Intron|IL32_ENST00000551513.1_Missense_Mutation_p.L21F|IL32_ENST00000548652.1_Intron|IL32_ENST00000549213.1_Intron|IL32_ENST00000552936.1_Intron|IL32_ENST00000396887.3_Intron|IL32_ENST00000552356.1_Intron|IL32_ENST00000526464.2_Intron|IL32_ENST00000533097.2_Intron|IL32_ENST00000548476.1_Missense_Mutation_p.L21F|IL32_ENST00000548246.1_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													126	512					0	0	1	0	0	T	3117423	C	T	3117423	3	4	22	1	0	0	0	0	1	0	0	0	7736	812	28	2		2	IL32	16	3117423	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17020	3117423	87237330	15425	17571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538082.2_Missense_Mutation_p.R498H|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R241H	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													27	138					0	0	1	0	0	T	3139531	C	T	3139531	3	4	22	1	0	0	0	0	1	0	0	0	18269	768	27	1	442	1	ZSCAN10	16	3139531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22108	3139531	87215222	15426	17572											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538082.2_Missense_Mutation_p.T11M|ZSCAN10_ENST00000572548.1_Missense_Mutation_p.R4W|ZSCAN10_ENST00000575108.1_Intron	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													24	76					0	0	1	0	0	A	3142764	G	A	3142764	3	1	22	1	0	0	0	0	1	0	0	0	18269	1144	40	1	2187	1	ZSCAN10	16	3142764	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3233	3142764	87211989	15427	17573											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	502					0	0	1	0	0	A	3170128	G	A	3170128	2	1	22	1	0	0	0	0	0	0	0	1	17822	1074	38	1		1	ZNF205	16	3170128	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27364	3170128	87184625	15428	17574											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	296					1.07751e-37	1.29517e-37	1	1	0	T	3187397	G	T	3187397	3	4	22	1	0	0	0	0	1	0	0	0	17827	1000	35	2	118	2	ZNF213	16	3187397	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17269	3187397	87167356	15429	17575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000576416.1_Missense_Mutation_p.R421H|ZNF213_ENST00000416391.2_Missense_Mutation_p.R263H	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													83	308					0	0	1	0	0	A	3191230	G	A	3191230	3	1	22	1	0	0	0	0	1	0	0	0	17827	1145	40	1	1280	1	ZNF213	16	3191230	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3833	3191230	87163523	15430	17576											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536379.1_Silent_p.L418L|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.L449L	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													288	1307					0	0	1	0	0	T	3293600	C	T	3293600	2	4	22	1	0	0	0	0	0	0	0	1	9509	697	25	2		2	MEFV	16	3293600	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102370	3293600	87061153	15431	17577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538765.1_Intron|ZNF263_ENST00000573578.1_Missense_Mutation_p.A23T|ZNF263_ENST00000574253.1_Missense_Mutation_p.A23T	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													32	271					0	0	1	0	0	A	3333885	G	A	3333885	3	1	22	1	0	0	0	0	1	0	0	0	17861	1087	38	1	69	1	ZNF263	16	3333885	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40285	3333885	87020868	15432	17578											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538765.1_Intron|ZNF263_ENST00000574253.1_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													28	183					1.75199e-13	1.89187e-13	1	1	0	T	3338556	G	T	3338556	3	4	22	1	0	0	0	0	1	0	0	0	17861	942	33	2	890	2	ZNF263	16	3338556	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4671	3338556	87016197	15433	17579											
TIGD7	91151	broad.mit.edu	37	chr16	3350471	3350472	+	Frame_Shift_Ins	INS	-	-	T													agtccagaattaacttcttaINSttttttttaatgtcataaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3350471_3350472insT	ENST00000396862.1	-	2	1971_1972	c.143_144insA	c.(142-144)aaafs	p.K48fs	TIGD7_ENST00000268674.2_Frame_Shift_Ins_p.K48fs	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	48	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						TTAACTTCTTATTTTTTTTAAT	0.361													7	695	---	---	---	---						T	3350472	-	T	3350471	7	5	22	1	0	1	1	0	0	0	0	0	15961	446	16	0	1509	0	TIGD7	16	3350471	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	11915	3350471	87004282	15434	17580											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	352					0	0	1	0	0	C	3406685	T	C	3406685	3	2	22	1	0	0	0	0	1	0	0	0	11040	1725	60	3	747	3	OR2C1	16	3406685	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	56214	3406685	86948068	15435	17581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	137					0	0	1	0	0	A	3544819	G	A	3544819	2	1	22	1	0	0	0	0	0	0	0	1	1850	1140	40	1		1	C16orf90	16	3544819	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138134	3544819	86809934	15436	17582											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417763.2_Silent_p.E59E|CLUAP1_ENST00000341633.5_Silent_p.E225E|CLUAP1_ENST00000572600.1_Silent_p.E59E|CLUAP1_ENST00000576634.1_Silent_p.E225E|CLUAP1_ENST00000445795.2_5'UTR			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													116	462					0	0	1	0	0	G	3569998	A	G	3569998	2	3	22	1	0	0	0	0	0	0	0	1	3592	11	1	3		3	CLUAP1	16	3569998	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25179	3569998	86784755	15437	17583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3613437G>A	ENST00000301749.7	-	0	1906				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_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						TGCATGGCCCGCTGGGCTGCG	0.657													16	39					0	0	1	0	0	A	3613437	G	A	3613437	1	1	22	0	1	0	0	0	0	0	0	0	10515	1086	38	1		1	NLRC3	16	3613437	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43439	3613437	86741316	15438	17584											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3614177C>T	ENST00000301749.7	-	0	1166				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_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						GAGGTTGCCACGGATGATGTT	0.602													11	180					0	0	1	0	0	T	3614177	C	T	3614177	1	4	22	0	1	0	0	0	0	0	0	0	10515	536	19	1		1	NLRC3	16	3614177	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	740	3614177	86740576	15439	17585											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3614447T>C	ENST00000301749.7	-	0	896				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_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						GACCTGCCCATGGGCCCAGAG	0.652													71	286					0	0	1	0	0	C	3614447	T	C	3614447	1	2	22	0	1	0	0	0	0	0	0	0	10515	1464	51	3		3	NLRC3	16	3614447	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	270	3614447	86740306	15440	17586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|DNASE1_ENST00000575152.1_3'UTR|DNASE1_ENST00000414110.2_3'UTR|TRAP1_ENST00000246957.5_Missense_Mutation_p.R540H			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													51	490					0	0	1	0	0	T	3713514	C	T	3713514	3	4	22	1	0	0	0	0	1	0	0	0	16516	536	19	1	515	1	TRAP1	16	3713514	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99067	3713514	86641239	15441	17587											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	205					0	0	1	0	0	T	3724437	C	T	3724437	3	4	22	1	0	0	0	0	1	0	0	0	16516	768	27	1	1207	1	TRAP1	16	3724437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10923	3724437	86630316	15442	17588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	48	224					5.85753e-14	6.34509e-14	1	1	0	A	3740954	C	A	3740954	3	1	22	1	0	0	0	0	1	0	0	0	16516	797	28	2	2061	2	TRAP1	16	3740954	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16517	3740954	86613799	15443	17589											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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						26	399					0	0	1	0	0	A	3778862	G	A	3778862	2	1	22	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	15444	17590											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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						19	85					1.96292e-10	2.08093e-10	1	1	0	T	3807335	G	T	3807335	3	4	22	1	0	0	0	0	1	0	0	0	3884	962	34	2	3728	2	CREBBP	16	3807335	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28473	3807335	86547418	15445	17591											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	351					0	0	1	0	0	T	4029235	C	T	4029235	3	4	22	1	0	0	0	0	1	0	0	0	300	768	27	1	1516	1	ADCY9	16	4029235	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221900	4029235	86325518	15446	17592											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													138	519					0	0	1	0	0	G	4163832	A	G	4163832	3	3	22	1	0	0	0	0	1	0	0	0	300	449	16	3	2489	3	ADCY9	16	4163832	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	134597	4163832	86190921	15447	17593											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	272					0	0	1	0	0	T	4164631	C	T	4164631	2	4	22	1	0	0	0	0	0	0	0	1	300	755	27	1		1	ADCY9	16	4164631	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	799	4164631	86190122	15448	17594											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	104					0	0	1	0	0	G	4382440	C	G	4382440	2	3	22	1	0	0	0	0	0	0	0	1	6488	784	28	5		5	GLIS2	16	4382440	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217809	4382440	85972313	15449	17595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	190					0	0	1	0	0	A	4383390	G	A	4383390	3	1	22	1	0	0	0	0	1	0	0	0	6488	1087	38	1	221	1	GLIS2	16	4383390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	950	4383390	85971363	15450	17596											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-295D4.1_ENST00000574705.1_RNA|GLIS2_ENST00000433375.1_Missense_Mutation_p.V321M|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													32	161					0	0	1	0	0	A	4386911	G	A	4386911	3	1	22	1	0	0	0	0	1	0	0	0	6488	1377	48	2	983	2	GLIS2	16	4386911	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3521	4386911	85967842	15451	17597											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000574025.1_Missense_Mutation_p.A645T|CORO7_ENST00000539968.1_Missense_Mutation_p.A510T|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.A730T|CORO7_ENST00000537233.2_Missense_Mutation_p.A712T	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)	41	239					0	0	1	0	0	T	4409543	C	T	4409543	3	4	22	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	15452	17598											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431375.2_Missense_Mutation_p.P55H|DNAJA3_ENST00000355296.4_Missense_Mutation_p.P208H	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													12	263					0.38729	0.387367	1	1	0	A	4491569	C	A	4491569	3	1	22	1	0	0	0	0	1	0	0	0	4640	681	24	2	637	2	DNAJA3	16	4491569	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82026	4491569	85863184	15453	17599											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415496.1_Silent_p.D454D|MGRN1_ENST00000262370.7_Silent_p.D475D|MGRN1_ENST00000586183.1_Silent_p.D453D|MGRN1_ENST00000588994.1_Silent_p.D453D	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													27	111					0	0	1	0	0	T	4732890	C	T	4732890	2	4	22	1	0	0	0	0	0	0	0	1	9608	535	19	1		1	MGRN1	16	4732890	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	241321	4732890	85621863	15454	17600											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	801					0	0	1	0	0	T	4755101	C	T	4755101	3	4	22	1	0	0	0	0	1	0	0	0	684	768	27	1	1147	1	ANKS3	16	4755101	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22211	4755101	85599652	15455	17601											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	257					0	0	1	0	0	T	4764060	C	T	4764060	3	4	22	1	0	0	0	0	1	0	0	0	684	652	23	1	1313	1	ANKS3	16	4764060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8959	4764060	85590693	15456	17602											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585773.1_Missense_Mutation_p.E109D|ANKS3_ENST00000592711.1_Missense_Mutation_p.E75D	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													11	218					3.86212e-05	3.93988e-05	1	1	0	A	4774778	C	A	4774778	3	1	22	1	0	0	0	0	1	0	0	0	684	912	32	2	1472	2	ANKS3	16	4774778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10718	4774778	85579975	15457	17603											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585773.1_Intron|ANKS3_ENST00000592711.1_Missense_Mutation_p.G46D	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													145	792					0	0	1	0	0	T	4780014	C	T	4780014	3	4	22	1	0	0	0	0	1	0	0	0	684	739	26	2	1893	2	ANKS3	16	4780014	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5236	4780014	85574739	15458	17604											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	315					0	0	1	0	0	C	4786573	A	C	4786573	3	2	22	1	0	0	0	0	1	0	0	0	1837	333	12	3	60	3	C16orf71	16	4786573	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6559	4786573	85568180	15459	17605											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	570					0	0	1	0	0	T	4790160	C	T	4790160	2	4	22	1	0	0	0	0	0	0	0	1	1837	912	32	2		2	C16orf71	16	4790160	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3587	4790160	85564593	15460	17606											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	331					0	0	1	0	0	T	4815977	C	T	4815977	1	4	22	1	0	0	0	0	0	0	0	0	18005	594	21	2		2	ZNF500	16	4815977	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25817	4815977	85538776	15461	17607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590769.1_Silent_p.A19A|UBN1_ENST00000262376.6_Silent_p.A19A|UBN1_ENST00000545171.1_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													34	388					0	0	1	0	0	A	4902975	G	A	4902975	2	1	22	1	0	0	0	0	0	0	0	1	16953	1132	40	1		1	UBN1	16	4902975	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86998	4902975	85451778	15462	17608											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590769.1_Intron|UBN1_ENST00000262376.6_Silent_p.Q1115Q|UBN1_ENST00000545171.1_Intron	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													249	987					0	0	1	0	0	A	4927465	G	A	4927465	2	1	22	1	0	0	0	0	0	0	0	1	16953	933	33	2		2	UBN1	16	4927465	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24490	4927465	85427288	15463	17609											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002696.3	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													160	623					0	0	1	0	0	T	4934369	C	T	4934369	2	4	22	1	0	0	0	0	0	0	0	1	12383	755	27	1		1	PPL	16	4934369	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6904	4934369	85420384	15464	17610											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002696.3	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													237	927					0	0	1	0	0	A	4934822	G	A	4934822	2	1	22	1	0	0	0	0	0	0	0	1	12383	1219	43	2		2	PPL	16	4934822	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	453	4934822	85419931	15465	17611											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002696.3	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													446	1873					2.09492e-81	2.68073e-81	1	1	0	A	4938987	C	A	4938987	3	1	22	1	0	0	0	0	1	0	0	0	12383	797	28	2	2897	2	PPL	16	4938987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4165	4938987	85415766	15466	17612											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002696.3	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													15	341					0	0	1	0	0	T	4945601	C	T	4945601	2	4	22	1	0	0	0	0	0	0	0	1	12383	796	28	2		2	PPL	16	4945601	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6614	4945601	85409152	15467	17613											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	44					0	0	1	0	0	C	5041991	T	C	5041991	2	2	22	1	0	0	0	0	0	0	0	1	14039	1625	57	3		3	SEC14L5	16	5041991	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96390	5041991	85312762	15468	17614											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	326					0	0	1	0	0	T	5053443	C	T	5053443	3	4	22	1	0	0	0	0	1	0	0	0	14039	759	27	1	1209	1	SEC14L5	16	5053443	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11452	5053443	85301310	15469	17615											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	NAGPA_ENST00000564922.1_5'UTR|NAGPA_ENST00000381955.3_Missense_Mutation_p.P39L|RP11-165E7.1_ENST00000588778.1_RNA	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													14	92					0	0	1	0	0	A	5083700	G	A	5083700	3	1	22	1	0	0	0	0	1	0	0	0	10192	1232	43	2	1467	2	NAGPA	16	5083700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30257	5083700	85271053	15470	17616											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000425191.2_Missense_Mutation_p.M4R|ABAT_ENST00000567812.1_Missense_Mutation_p.M19R|ABAT_ENST00000268251.8_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													14	54					0	0	1	0	0	G	8829607	T	G	8829607	3	3	22	1	0	0	0	0	1	0	0	0	27	1464	51	3	13	3	ABAT	16	8829607	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3745907	8829607	81525146	15471	17617											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000425191.2_Silent_p.D89D|ABAT_ENST00000567812.1_Silent_p.D104D|ABAT_ENST00000268251.8_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													12	666					0	0	1	0	0	T	8844347	C	T	8844347	2	4	22	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	15472	17618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	373					0	0	1	0	0	T	8890416	C	T	8890416	3	4	22	1	0	0	0	0	1	0	0	0	16168	652	23	1	610	1	TMEM186	16	8890416	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46069	8890416	81464337	15473	17619											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537352.1_Intron|PMM2_ENST00000539622.1_Missense_Mutation_p.A25V|PMM2_ENST00000566983.1_Missense_Mutation_p.A81V|PMM2_ENST00000569958.1_Intron	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													63	268					0	0	1	0	0	T	8900240	C	T	8900240	3	4	22	1	0	0	0	0	1	0	0	0	12185	768	27	1	337	1	PMM2	16	8900240	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9824	8900240	81454513	15474	17620											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000562843.1_Silent_p.R49R|RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000311052.5_Silent_p.R49R|CARHSP1_ENST00000561530.1_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													19	99					0	0	1	0	0	T	8953039	C	T	8953039	2	4	22	1	0	0	0	0	0	0	0	1	2671	854	30	2		2	CARHSP1	16	8953039	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52799	8953039	81401714	15475	17621											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	280					0	0	1	0	0	A	8993578	G	A	8993578	2	1	22	1	0	0	0	0	0	0	0	1	17148	1103	39	1		1	USP7	16	8993578	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40539	8993578	81361175	15476	17622											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8995939G>A	ENST00000344836.4	-	18	2245	c.2047_splice	c.e18+1	p.H683_splice	USP7_ENST00000381886.4_Splice_Site_p.H667_splice|USP7_ENST00000535863.1_Splice_Site_p.H584_splice	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													24	510					0	0	1	0	0	A	8995939	G	A	8995939	5	1	22	1	0	0	0	0	0	0	1	0	17148	1072	37	1	1317	1	USP7	16	8995939	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2361	8995939	81358814	15477	17623											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	302					0	0	1	0	0	T	8997161	C	T	8997161	2	4	22	1	0	0	0	0	0	0	0	1	17148	755	27	1		1	USP7	16	8997161	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1222	8997161	81357592	15478	17624											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	256					0	0	1	0	0	A	9196949	G	A	9196949	3	1	22	1	0	0	0	0	1	0	0	0	1838	1145	40	1	426	1	C16orf72	16	9196949	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	199788	9196949	81157804	15479	17625											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1330N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1330N|GRIN2A_ENST00000562109.1_Intron	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													115	445					0	0	1	0	0	T	9857412	C	T	9857412	3	4	22	1	0	0	0	0	1	0	0	0	6820	565	20	2	409	2	GRIN2A	16	9857412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	660463	9857412	80497341	15480	17626											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404927.2_Missense_Mutation_p.D1251N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D1094N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1251N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1251N|GRIN2A_ENST00000562109.1_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													99	398					0	0	1	0	0	T	9857650	C	T	9857650	3	4	22	1	0	0	0	0	1	0	0	0	6820	913	32	2	647	2	GRIN2A	16	9857650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	238	9857650	80497103	15481	17627											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404927.2_Missense_Mutation_p.K1005N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K848N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K1005N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K1005N|GRIN2A_ENST00000562109.1_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													112	394					0	0	1	0	0	G	9858386	T	G	9858386	3	3	22	1	0	0	0	0	1	0	0	0	6820	1606	56	3	1383	3	GRIN2A	16	9858386	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	736	9858386	80496367	15482	17628											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404927.2_Missense_Mutation_p.L794M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.L637M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.L794M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L794M|GRIN2A_ENST00000562109.1_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													59	301					7.73544e-29	9.01949e-29	1	1	0	T	9862923	G	T	9862923	3	4	22	1	0	0	0	0	1	0	0	0	6820	991	35	2	2022	2	GRIN2A	16	9862923	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4537	9862923	80491830	15483	17629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000324570.5_Missense_Mutation_p.R347H|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R347H|ATF7IP2_ENST00000543967.1_Intron|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													92	392					0	0	1	0	0	A	10532037	G	A	10532037	3	1	22	1	0	0	0	0	1	0	0	0	1087	1087	38	1	1050	1	ATF7IP2	16	10532037	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	669114	10532037	79822716	15484	17630											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													152	611					0	0	1	0	0	T	10775953	C	T	10775953	3	4	22	1	0	0	0	0	1	0	0	0	15815	893	31	1	713	1	TEKT5	16	10775953	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	243916	10775953	79578800	15485	17631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000237.2	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, "								71	286					0	0	1	0	0	A	10996534	G	A	10996534	2	1	22	1	0	0	0	0	0	0	0	1	3450	1132	40	1		1	CIITA	16	10996534	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	220581	10996534	79358219	15486	17632											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	59					0	0	1	0	0	T	11066877	C	T	11066877	2	4	22	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	15487	17633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	109					0	0	1	0	0	A	11114148	G	A	11114148	3	1	22	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	15488	17634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													164	714					0	0	1	0	0	A	11272254	G	A	11272254	3	1	22	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	15489	17635											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													194	905					1.08951e-92	1.39951e-92	1	1	0	A	11362939	C	A	11362939	4	1	22	1	0	0	0	0	0	1	0	0	16394	603	21	2	243	2	TNP2	16	11362939	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90685	11362939	78991814	15490	17636											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000576036.1_Intron|LITAF_ENST00000571459.1_Intron|LITAF_ENST00000570904.1_Intron|LITAF_ENST00000571688.1_Intron|LITAF_ENST00000572255.1_Intron|LITAF_ENST00000574763.1_Intron|LITAF_ENST00000571976.1_Intron|LITAF_ENST00000413364.2_Intron|LITAF_ENST00000339430.5_Intron|LITAF_ENST00000381810.3_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													19	39					0	0	1	0	0	A	11650327	G	A	11650327	3	1	22	1	0	0	0	0	1	0	0	0	8871	1218	42	2		2	LITAF	16	11650327	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	287388	11650327	78704426	15491	17637											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	439					2.32078e-09	2.442e-09	1	1	0	T	11785193	G	T	11785193	3	4	22	1	0	0	0	0	1	0	0	0	16854	942	33	2	1043	2	TXNDC11	16	11785193	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134866	11785193	78569560	15492	17638											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	435					0	0	1	0	0	A	11785247	G	A	11785247	3	1	22	1	0	0	0	0	1	0	0	0	16854	1116	39	1	1097	1	TXNDC11	16	11785247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54	11785247	78569506	15493	17639											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													132	453					0	0	1	0	0	A	11792005	G	A	11792005	2	1	22	1	0	0	0	0	0	0	0	1	16854	1103	39	1		1	TXNDC11	16	11792005	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6758	11792005	78562748	15494	17640											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	292					0	0	1	0	0	T	11941533	C	T	11941533	3	4	22	1	0	0	0	0	1	0	0	0	13752	536	19	1	1124	1	RSL1D1	16	11941533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149528	11941533	78413220	15495	17641											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|GSPT1_ENST00000420576.2_Missense_Mutation_p.A487V|GSPT1_ENST00000439887.2_Missense_Mutation_p.A624V|RP11-166B2.8_ENST00000574364.1_RNA	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	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													85	483					0	0	1	0	0	A	11967016	G	A	11967016	3	1	22	1	0	0	0	0	1	0	0	0	6867	1319	46	2	43	2	GSPT1	16	11967016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25483	11967016	78387737	15496	17642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420576.2_Silent_p.I27I|GSPT1_ENST00000439887.2_Silent_p.I164I	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	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													15	42					0	0	1	0	0	G	11990584	T	G	11990584	2	3	22	1	0	0	0	0	0	0	0	1	6867	1744	61	3		3	GSPT1	16	11990584	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	23568	11990584	78364169	15497	17643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	80					7.87624e-14	8.52853e-14	1	1	0	T	12450028	G	T	12450028	3	4	22	1	0	0	0	0	1	0	0	0	14952	933	33	2	666	2	SNX29	16	12450028	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	459444	12450028	77904725	15498	17644											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14022092G>T	ENST00000311895.7	+	4	801	c.792_splice	c.e4+1	p.K264_splice	ERCC4_ENST00000575156.1_Splice_Site_p.K264_splice|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				37	189					1.36161e-19	1.52027e-19	1	1	0	T	14022092	G	T	14022092	5	4	22	1	0	0	0	0	0	0	1	0	5243	1014	35	2	806	2	ERCC4	16	14022092	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1572064	14022092	76332661	15499	17645											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_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				10	385					0	0	1	0	0	G	14029331	T	G	14029331	4	3	22	1	0	0	0	0	0	1	0	0	5243	1442	50	3	1572	3	ERCC4	16	14029331	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7239	14029331	76325422	15500	17646											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				96	357					0	0	1	0	0	A	14029521	G	A	14029521	3	1	22	1	0	0	0	0	1	0	0	0	5243	1145	40	1	1762	1	ERCC4	16	14029521	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190	14029521	76325232	15501	17647											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				111	470					0	0	1	0	0	T	14041754	C	T	14041754	2	4	22	1	0	0	0	0	0	0	0	1	5243	912	32	2		2	ERCC4	16	14041754	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12233	14041754	76312999	15502	17648											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000575537.1_3'UTR|MKL2_ENST00000318282.5_Missense_Mutation_p.A6V|MKL2_ENST00000574045.1_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													16	265					0	0	1	0	0	T	14234480	C	T	14234480	3	4	22	1	0	0	0	0	1	0	0	0	9650	768	27	1	19	1	MKL2	16	14234480	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192726	14234480	76120273	15503	17649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341243.5_Intron|MKL2_ENST00000571589.1_Intron|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000574045.1_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													80	385					0	0	1	0	0	T	14334513	C	T	14334513	3	4	22	1	0	0	0	0	1	0	0	0	9650	754	26	2		2	MKL2	16	14334513	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100033	14334513	76020240	15504	17650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341243.5_Silent_p.I570I|MKL2_ENST00000318282.5_Silent_p.I581I|MKL2_ENST00000574045.1_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													39	220					0	0	1	0	0	T	14340860	C	T	14340860	2	4	22	1	0	0	0	0	0	0	0	1	9650	874	31	1		1	MKL2	16	14340860	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6347	14340860	76013893	15505	17651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341243.5_Nonsense_Mutation_p.C636*|MKL2_ENST00000318282.5_Nonsense_Mutation_p.C647*|MKL2_ENST00000574045.1_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													56	292					2.43277e-16	2.6724e-16	1	1	0	A	14341058	C	A	14341058	4	1	22	1	0	0	0	0	0	1	0	0	9650	805	28	2	1979	2	MKL2	16	14341058	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198	14341058	76013695	15506	17652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000563971.1_Missense_Mutation_p.R55H|BFAR_ENST00000426842.2_5'UTR	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													155	598					0	0	1	0	0	A	14738367	G	A	14738367	3	1	22	1	0	0	0	0	1	0	0	0	1413	1145	40	1	166	1	BFAR	16	14738367	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	397309	14738367	75616386	15507	17653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	447					1.14936e-50	1.42452e-50	1	1	0	T	14970277	G	T	14970277	3	4	22	1	0	0	0	0	1	0	0	0	10578	933	33	2	2500	2	NOMO1	16	14970277	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	231910	14970277	75384476	15508	17654											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													271	2938					0	0	1	0	0	T	14989432	C	T	14989432	3	4	22	1	0	0	0	0	1	0	0	0	10578	710	25	2	3721	2	NOMO1	16	14989432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19155	14989432	75365321	15509	17655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000569715.1_Missense_Mutation_p.G68E|PDXDC1_ENST00000563679.1_Missense_Mutation_p.G113E|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_ENST00000455313.2_Missense_Mutation_p.G95E	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													36	970					0	0	1	0	0	A	15098085	G	A	15098085	3	1	22	1	0	0	0	0	1	0	0	0	11743	1174	41	2	302	2	PDXDC1	16	15098085	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108653	15098085	75256668	15510	17656											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000569715.1_Missense_Mutation_p.R339Q|PDXDC1_ENST00000563679.1_Missense_Mutation_p.R384Q|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_ENST00000455313.2_Missense_Mutation_p.R343Q	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													23	273					0	0	1	0	0	A	15116568	G	A	15116568	3	1	22	1	0	0	0	0	1	0	0	0	11743	1116	39	1	1147	1	PDXDC1	16	15116568	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18483	15116568	75238185	15511	17657											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000602337.1_Missense_Mutation_p.A747T|KIAA0430_ENST00000540441.2_Missense_Mutation_p.A607T|KIAA0430_ENST00000344181.3_Missense_Mutation_p.A428T|KIAA0430_ENST00000548025.1_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													41	483					0	0	1	0	0	T	15718648	C	T	15718648	3	4	22	1	0	0	0	0	1	0	0	0	8219	768	27	1	3055	1	KIAA0430	16	15718648	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	602080	15718648	74636105	15512	17658											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540441.2_Silent_p.A301A|KIAA0430_ENST00000551742.1_Silent_p.A301A|KIAA0430_ENST00000602337.1_Silent_p.A301A|KIAA0430_ENST00000344181.3_Silent_p.A123A|KIAA0430_ENST00000548025.1_Silent_p.A301A	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													17	837					0	0	1	0	0	C	15728717	T	C	15728717	2	2	22	1	0	0	0	0	0	0	0	1	8219	1683	59	3		3	KIAA0430	16	15728717	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10069	15728717	74626036	15513	17659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540441.2_Missense_Mutation_p.G204V|KIAA0430_ENST00000551742.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000602337.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000344181.3_Missense_Mutation_p.G26V|KIAA0430_ENST00000548025.1_Missense_Mutation_p.G204V	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													97	313					2.68325e-40	3.25214e-40	1	1	0	A	15729733	C	A	15729733	3	1	22	1	0	0	0	0	1	0	0	0	8219	507	18	2	4720	2	KIAA0430	16	15729733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1016	15729733	74625020	15514	17660											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	244					0	0	1	0	0	T	15781279	C	T	15781279	3	4	22	1	0	0	0	0	1	0	0	0	10290	739	26	2	448	2	NDE1	16	15781279	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51546	15781279	74573474	15515	17661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15814797G>A	ENST00000338282.6	-	33	4796	c.4690C>T	c.(4690-4692)Cgg>Tgg	p.R1564W	NDE1_ENST00000396355.1_Intron|MYH11_ENST00000576790.1_Missense_Mutation_p.R1564W|MYH11_ENST00000452625.2_Missense_Mutation_p.R1571W|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000300036.5_Missense_Mutation_p.R1564W|MYH11_ENST00000396324.3_Missense_Mutation_p.R1571W|NDE1_ENST00000342673.5_Intron	NM_022844.2	NP_074035.1	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								109	475					0	0	1	0	0	A	15814797	G	A	15814797	3	1	22	1	0	0	0	0	1	0	0	0	10079	1086	38	1	1299	1	MYH11	16	15814797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33518	15814797	74539956	15516	17662											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15826526G>T	ENST00000338282.6	-	27	3652	c.3546C>A	c.(3544-3546)gcC>gcA	p.A1182A	MYH11_ENST00000576790.1_Silent_p.A1182A|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Silent_p.A1189A|MYH11_ENST00000300036.5_Silent_p.A1182A|MYH11_ENST00000396324.3_Silent_p.A1189A	NM_022844.2	NP_074035.1	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								105	402					3.88716e-44	4.75385e-44	1	1	0	T	15826526	G	T	15826526	2	4	22	1	0	0	0	0	0	0	0	1	10079	1219	43	2		2	MYH11	16	15826526	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11729	15826526	74528227	15517	17663											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15829434G>T	ENST00000338282.6	-	26	3401	c.3293_splice	c.e26-1	p.L1099_splice	MYH11_ENST00000576790.1_Splice_Site_p.L1099_splice|MYH11_ENST00000452625.2_Splice_Site_p.L1106_splice|MYH11_ENST00000300036.5_Splice_Site_p.L1099_splice|MYH11_ENST00000396324.3_Splice_Site_p.L1106_splice	NM_022844.2	NP_074035.1	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								96	375					2.1089e-46	2.5903e-46	1	1	0	T	15829434	G	T	15829434	5	4	22	1	0	0	0	0	0	0	1	0	10079	985	34	2	2722	2	MYH11	16	15829434	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2908	15829434	74525319	15518	17664											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15841795T>G	ENST00000338282.6	-	18	2292	c.2186A>C	c.(2185-2187)gAg>gCg	p.E729A	MYH11_ENST00000576790.1_Missense_Mutation_p.E729A|MYH11_ENST00000452625.2_Missense_Mutation_p.E736A|MYH11_ENST00000300036.5_Missense_Mutation_p.E729A|MYH11_ENST00000396324.3_Missense_Mutation_p.E736A	NM_022844.2	NP_074035.1	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								66	328					0	0	1	0	0	G	15841795	T	G	15841795	3	3	22	1	0	0	0	0	1	0	0	0	10079	1551	54	3	3863	3	MYH11	16	15841795	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12361	15841795	74512958	15519	17665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15844149G>A	ENST00000338282.6	-	16	2010	c.1904C>T	c.(1903-1905)aCg>aTg	p.T635M	MYH11_ENST00000576790.1_Missense_Mutation_p.T635M|MYH11_ENST00000452625.2_Missense_Mutation_p.T642M|MYH11_ENST00000300036.5_Missense_Mutation_p.T635M|MYH11_ENST00000396324.3_Missense_Mutation_p.T642M	NM_022844.2	NP_074035.1	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								23	110					0	0	1	0	0	A	15844149	G	A	15844149	3	1	22	1	0	0	0	0	1	0	0	0	10079	1145	40	1	4153	1	MYH11	16	15844149	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2354	15844149	74510604	15520	17666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15853516C>T	ENST00000338282.6	-	12	1424	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M	MYH11_ENST00000576790.1_Missense_Mutation_p.V440M|MYH11_ENST00000452625.2_Missense_Mutation_p.V447M|MYH11_ENST00000300036.5_Missense_Mutation_p.V440M|MYH11_ENST00000396324.3_Missense_Mutation_p.V447M	NM_022844.2	NP_074035.1	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								105	455					0	0	1	0	0	T	15853516	C	T	15853516	3	4	22	1	0	0	0	0	1	0	0	0	10079	536	19	1	4755	1	MYH11	16	15853516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9367	15853516	74501237	15521	17667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001162.4	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													51	170					0	0	1	0	0	T	16251606	C	T	16251606	3	4	22	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	15522	17668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001162.4	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													11	354					0	0	1	0	0	A	16276333	G	A	16276333	3	1	22	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	15523	17669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	211					0	0	1	0	0	A	17211831	G	A	17211831	2	1	22	1	0	0	0	0	0	0	0	1	17523	1306	46	2		2	XYLT1	16	17211831	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	935498	17211831	73142922	15524	17670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	428					0	0	1	0	0	T	17352928	C	T	17352928	3	4	22	1	0	0	0	0	1	0	0	0	17523	768	27	1	2089	1	XYLT1	16	17352928	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141097	17352928	73001825	15525	17671											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	443					0	0	1	0	0	A	17353281	G	A	17353281	2	1	22	1	0	0	0	0	0	0	0	1	17523	1020	36	2		2	XYLT1	16	17353281	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	353	17353281	73001472	15526	17672											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381474.3_Missense_Mutation_p.P736H|NOMO2_ENST00000543392.1_Missense_Mutation_p.P569H	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													140	1072					1.66795e-42	2.03135e-42	1	1	0	T	18532153	G	T	18532153	3	4	22	1	0	0	0	0	1	0	0	0	10579	1000	35	2	1656	2	NOMO2	16	18532153	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1178872	18532153	71822600	15527	17673											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	229					0	0	1	0	0	T	18823443	C	T	18823443	3	4	22	1	0	0	0	0	1	0	0	0	14849	652	23	1	369	1	SMG1	16	18823443	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	291290	18823443	71531310	15528	17674											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	154					0	0	1	0	0	T	18840938	C	T	18840938	2	4	22	1	0	0	0	0	0	0	0	1	14849	738	26	2		2	SMG1	16	18840938	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17495	18840938	71513815	15529	17675											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	275					0	0	1	0	0	G	18849783	T	G	18849783	3	3	22	1	0	0	0	0	1	0	0	0	14849	1609	56	3	3975	3	SMG1	16	18849783	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8845	18849783	71504970	15530	17676											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	211					0	0	1	0	0	C	18856783	T	C	18856783	3	2	22	1	0	0	0	0	1	0	0	0	14849	1850	64	3	4898	3	SMG1	16	18856783	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7000	18856783	71497970	15531	17677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000569532.1_Missense_Mutation_p.Q536R|TMC7_ENST00000304381.5_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													282	1115					0	0	1	0	0	G	19058438	A	G	19058438	3	3	22	1	0	0	0	0	1	0	0	0	16050	188	7	3	1653	3	TMC7	16	19058438	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	201655	19058438	71296315	15532	17678											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000568115.1_Missense_Mutation_p.R188C|SYT17_ENST00000355377.2_Missense_Mutation_p.R249C			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													139	717					0	0	1	0	0	T	19195263	C	T	19195263	3	4	22	1	0	0	0	0	1	0	0	0	15530	536	19	1	763	1	SYT17	16	19195263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136825	19195263	71159490	15533	17679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541464.1_Intron|TMC5_ENST00000542583.2_Missense_Mutation_p.R615C|TMC5_ENST00000561503.1_Missense_Mutation_p.R256C|TMC5_ENST00000219821.5_Missense_Mutation_p.R369C|TMC5_ENST00000381414.4_Missense_Mutation_p.R615C|TMC5_ENST00000564959.1_Missense_Mutation_p.R298C	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													9	598					0	0	1	0	0	T	19483470	C	T	19483470	3	4	22	1	0	0	0	0	1	0	0	0	16048	652	23	1	2191	1	TMC5	16	19483470	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	288207	19483470	70871283	15534	17680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417362.2_Silent_p.D760D|C16orf62_ENST00000448695.1_Silent_p.D703D|C16orf62_ENST00000543152.1_Silent_p.D602D|C16orf62_ENST00000542263.1_Silent_p.D849D|C16orf62_ENST00000251143.5_Silent_p.D853D	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													50	149					0	0	1	0	0	T	19702706	C	T	19702706	2	4	22	1	0	0	0	0	0	0	0	1	1832	564	20	2		2	C16orf62	16	19702706	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219236	19702706	70652047	15535	17681											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417362.2_Missense_Mutation_p.R793C|C16orf62_ENST00000448695.1_Missense_Mutation_p.R736C|C16orf62_ENST00000543152.1_Missense_Mutation_p.R635C|C16orf62_ENST00000542263.1_Missense_Mutation_p.R882C|C16orf62_ENST00000251143.5_Missense_Mutation_p.R886C	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													36	207					0	0	1	0	0	T	19710833	C	T	19710833	3	4	22	1	0	0	0	0	1	0	0	0	1832	768	27	1	2774	1	C16orf62	16	19710833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8127	19710833	70643920	15536	17682											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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.204_204insV	IQCK_ENST00000564186.1_Silent_p.R232R|IQCK_ENST00000320394.6_Silent_p.R232R|IQCK_ENST00000433597.2_Silent_p.R144R|IQCK_ENST00000562762.1_3'UTR			Q8N0W5	IQCK_HUMAN	IQ motif containing K	0										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TCCAGGTTCGCTGTGATCCTG	0.448													82	392					0	0	1	0	0	T	19838353	C	T	19838353	3	4	22	1	0	0	0	0	1	0	0	0	7857	784	28	2	726	2	IQCK	16	19838353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127520	19838353	70516400	15537	17683											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000569847.1_Missense_Mutation_p.T310M|GPRC5B_ENST00000535671.1_Missense_Mutation_p.T310M|GPRC5B_ENST00000537135.1_Missense_Mutation_p.T336M	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													96	366					0	0	1	0	0	A	19883239	G	A	19883239	3	1	22	1	0	0	0	0	1	0	0	0	6766	1145	40	1	294	1	GPRC5B	16	19883239	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44886	19883239	70471514	15538	17684											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000569847.1_Missense_Mutation_p.A273V|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A273V|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A299V	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													57	214					0	0	1	0	0	A	19883350	G	A	19883350	3	1	22	1	0	0	0	0	1	0	0	0	6766	1203	42	2	405	2	GPRC5B	16	19883350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	19883350	70471403	15539	17685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000569847.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A275T	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													25	223					0	0	1	0	0	T	19883423	C	T	19883423	3	4	22	1	0	0	0	0	1	0	0	0	6766	739	26	2	478	2	GPRC5B	16	19883423	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73	19883423	70471330	15540	17686											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000569847.1_Missense_Mutation_p.R80W|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R80W|GPRC5B_ENST00000537135.1_Missense_Mutation_p.R106W	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													61	276					0	0	1	0	0	A	19883930	G	A	19883930	3	1	22	1	0	0	0	0	1	0	0	0	6766	1086	38	1	985	1	GPRC5B	16	19883930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	507	19883930	70470823	15541	17687											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													124	401					6.25824e-51	7.76101e-51	1	1	0	A	20043299	C	A	20043299	3	1	22	1	0	0	0	0	1	0	0	0	6688	797	28	2	245	2	GPR139	16	20043299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159369	20043299	70311454	15542	17688											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	332					0	0	1	0	0	T	20043354	C	T	20043354	2	4	22	1	0	0	0	0	0	0	0	1	6688	755	27	1		1	GPR139	16	20043354	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	20043354	70311399	15543	17689											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	167					0	0	1	0	0	G	20043983	A	G	20043983	2	3	22	1	0	0	0	0	0	0	0	1	6688	69	3	3		3	GPR139	16	20043983	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	629	20043983	70310770	15544	17690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Missense_Mutation_p.V157A|GP2_ENST00000381362.4_Missense_Mutation_p.V304A|GP2_ENST00000341642.5_Missense_Mutation_p.V154A			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													186	901					0	0	1	0	0	G	20331047	A	G	20331047	3	3	22	1	0	0	0	0	1	0	0	0	6622	275	10	3	726	3	GP2	16	20331047	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	287064	20331047	70023706	15545	17691											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396138.4_Missense_Mutation_p.A487T|UMOD_ENST00000396142.2_Missense_Mutation_p.A438T|UMOD_ENST00000570689.1_Missense_Mutation_p.A438T|UMOD_ENST00000302509.4_Missense_Mutation_p.A438T|UMOD_ENST00000424589.1_Missense_Mutation_p.A471T	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													61	208					0	0	1	0	0	T	20355365	C	T	20355365	3	4	22	1	0	0	0	0	1	0	0	0	17039	768	27	1	634	1	UMOD	16	20355365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24318	20355365	69999388	15546	17692											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													134	582					2.34035e-62	2.94954e-62	1	1	0	A	20384360	C	A	20384360	3	1	22	1	0	0	0	0	1	0	0	0	11721	913	32	2	1016	2	PDILT	16	20384360	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28995	20384360	69970393	15547	17693											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	205					1.86633e-21	2.10207e-21	1	1	0	A	20422901	C	A	20422901	3	1	22	1	0	0	0	0	1	0	0	0	187	681	24	2	97	2	ACSM5	16	20422901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38541	20422901	69931852	15548	17694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	227					0	0	1	0	0	T	20430652	C	T	20430652	3	4	22	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	15549	17695											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													179	930					0	0	1	0	0	T	20442373	C	T	20442373	3	4	22	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	15550	17696											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	638					0	0	1	0	0	A	20448438	G	A	20448438	3	1	22	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	15551	17697											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000575690.1_Missense_Mutation_p.A93V|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A93V|ACSM2A_ENST00000424070.1_Missense_Mutation_p.A93V|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A93V|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A14V	NM_001010845.2	NP_001010845.1	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													26	341					0	0	1	0	0	T	20476939	C	T	20476939	3	4	22	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	15552	17698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000565322.1_Silent_p.G283G|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Silent_p.G362G|ACSM2B_ENST00000565232.1_Silent_p.G362G	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													186	1035					5.75948e-69	7.30583e-69	1	1	0	T	20559396	G	T	20559396	2	4	22	1	0	0	0	0	0	0	0	1	184	1190	42	2		2	ACSM2B	16	20559396	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82457	20559396	69795357	15553	17699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000565322.1_Missense_Mutation_p.A14V|ACSM2B_ENST00000414188.2_Missense_Mutation_p.A93V|ACSM2B_ENST00000567001.1_Missense_Mutation_p.A93V|ACSM2B_ENST00000565232.1_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													25	91					0	0	1	0	0	A	20570669	G	A	20570669	3	1	22	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	15554	17700											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	223					0	0	1	0	0	T	20681260	C	T	20681260	2	4	22	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	15555	17701	114	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	253					0.00621372	0.0062537	1	1	0	T	20681265	G	T	20681265	1	4	22	1	0	0	0	0	0	0	0	0	182	991	35	2		2	ACSM1	16	20681265	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	20681265	69673488	15556	17702	114	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	324					0	0	1	0	0	G	20787326	A	G	20787326	3	3	22	1	0	0	0	0	1	0	0	0	185	179	7	3	391	3	ACSM3	16	20787326	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	106061	20787326	69567427	15557	17703											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20871273C>T	ENST00000324344.3	-	3	1135	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	DCUN1D3_ENST00000563934.1_Missense_Mutation_p.E284K|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	284					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													23	189					0	0	1	0	0	T	20871273	C	T	20871273	3	4	22	1	0	0	0	0	1	0	0	0	4338	922	32	2	68	2	DCUN1D3	16	20871273	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83947	20871273	69483480	15558	17704											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	146					0	0	1	0	0	T	20959914	C	T	20959914	3	4	22	1	0	0	0	0	1	0	0	0	4631	536	19	1	1139	1	DNAH3	16	20959914	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88641	20959914	69394839	15559	17705											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													160	571					0	0	1	0	0	A	20966215	G	A	20966215	3	1	22	1	0	0	0	0	1	0	0	0	4631	1087	38	1	1390	1	DNAH3	16	20966215	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6301	20966215	69388538	15560	17706											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	215					2.89935e-36	3.46963e-36	1	1	0	A	20974849	C	A	20974849	3	1	22	1	0	0	0	0	1	0	0	0	4631	739	26	2	2032	2	DNAH3	16	20974849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8634	20974849	69379904	15561	17707											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	482					0	0	1	0	0	C	20975154	T	C	20975154	3	2	22	1	0	0	0	0	1	0	0	0	4631	1667	58	3	2337	3	DNAH3	16	20975154	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	305	20975154	69379599	15562	17708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	388					1.45418e-49	1.79884e-49	1	1	0	A	20975642	C	A	20975642	3	1	22	1	0	0	0	0	1	0	0	0	4631	680	24	2	2825	2	DNAH3	16	20975642	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	488	20975642	69379111	15563	17709											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													169	692					7.28047e-80	9.30738e-80	1	1	0	T	20976326	G	T	20976326	4	4	22	1	0	0	0	0	0	1	0	0	4631	963	34	2	3509	2	DNAH3	16	20976326	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	684	20976326	69378427	15564	17710											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	166					0	0	1	0	0	T	21049222	C	T	21049222	3	4	22	1	0	0	0	0	1	0	0	0	4631	768	27	1	7654	1	DNAH3	16	21049222	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72896	21049222	69305531	15565	17711											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													160	689					0	0	1	0	0	G	21098312	T	G	21098312	3	3	22	1	0	0	0	0	1	0	0	0	4631	1841	64	3	9790	3	DNAH3	16	21098312	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49090	21098312	69256441	15566	17712											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000572599.1_Missense_Mutation_p.L82M|TMEM159_ENST00000261388.3_Missense_Mutation_p.L82M|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000451578.2_Missense_Mutation_p.L106M|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													134	455					4.09057e-56	5.11717e-56	1	1	0	A	21181905	C	A	21181905	3	1	22	1	0	0	0	0	1	0	0	0	16134	796	28	2	250	2	TMEM159	16	21181905	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83593	21181905	69172848	15567	17713											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	196					4.14481e-20	4.63599e-20	1	1	0	T	21261844	G	T	21261844	3	4	22	1	0	0	0	0	1	0	0	0	685	991	35	2	963	2	ANKS4B	16	21261844	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79939	21261844	69092909	15568	17714											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000388957.3_Missense_Mutation_p.V104A|OTOA_ENST00000388956.4_Missense_Mutation_p.V349A|OTOA_ENST00000286149.4_Missense_Mutation_p.V442A	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													6	152					0	0	1	0	0	C	21721387	T	C	21721387	3	2	22	1	0	0	0	0	1	0	0	0	11349	1667	58	3	1375	3	OTOA	16	21721387	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	459543	21721387	68633366	15569	17715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000388957.3_Silent_p.I373I|OTOA_ENST00000388956.4_Silent_p.I618I|OTOA_ENST00000286149.4_Silent_p.I711I	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													32	468					0	0	1	0	0	T	21739636	C	T	21739636	2	4	22	1	0	0	0	0	0	0	0	1	11349	874	31	1		1	OTOA	16	21739636	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18249	21739636	68615117	15570	17716											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	123					0	0	1	0	0	T	22142594	C	T	22142594	3	4	22	1	0	0	0	0	1	0	0	0	17300	739	26	2	1791	2	VWA3A	16	22142594	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	402958	22142594	68212159	15571	17717											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389398.5_Missense_Mutation_p.A1095V|VWA3A_ENST00000563755.1_Missense_Mutation_p.A197V			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													23	104					0	0	1	0	0	T	22163834	C	T	22163834	3	4	22	1	0	0	0	0	1	0	0	0	17300	768	27	1	3406	1	VWA3A	16	22163834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21240	22163834	68190919	15572	17718											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_037434.1	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													7	246					0	0	1	0	0	A	22268113	G	A	22268113	2	1	22	1	0	0	0	0	0	0	0	1	4956	1103	39	1		1	EEF2K	16	22268113	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104279	22268113	68086640	15573	17719											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000564209.1_Missense_Mutation_p.R71H|POLR3E_ENST00000359210.4_Missense_Mutation_p.R71H|POLR3E_ENST00000418581.2_Missense_Mutation_p.R35H|POLR3E_ENST00000564256.1_3'UTR	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													82	360					0	0	1	0	0	A	22320292	G	A	22320292	3	1	22	1	0	0	0	0	1	0	0	0	12280	1087	38	1	226	1	POLR3E	16	22320292	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52179	22320292	68034461	15574	17720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000564209.1_Missense_Mutation_p.S138N|POLR3E_ENST00000359210.4_Missense_Mutation_p.S138N|POLR3E_ENST00000418581.2_Missense_Mutation_p.S102N	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													68	265					0	0	1	0	0	A	22324989	G	A	22324989	3	1	22	1	0	0	0	0	1	0	0	0	12280	971	34	2	435	2	POLR3E	16	22324989	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4697	22324989	68029764	15575	17721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000564209.1_Missense_Mutation_p.S253I|POLR3E_ENST00000359210.4_Missense_Mutation_p.S253I|POLR3E_ENST00000418581.2_Missense_Mutation_p.S217I	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													129	498					2.62243e-83	3.35764e-83	1	1	0	T	22328345	G	T	22328345	3	4	22	1	0	0	0	0	1	0	0	0	12280	971	34	2	796	2	POLR3E	16	22328345	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3356	22328345	68026408	15576	17722											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	87					0	0	1	0	0	T	22826268	C	T	22826268	3	4	22	1	0	0	0	0	1	0	0	0	7405	759	27	1	339	1	HS3ST2	16	22826268	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	497923	22826268	67528485	15577	17723											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													147	507					0	0	1	0	0	A	22926338	G	A	22926338	3	1	22	1	0	0	0	0	1	0	0	0	7405	1203	42	2	565	2	HS3ST2	16	22926338	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100070	22926338	67428415	15578	17724											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													187	680					0	0	1	0	0	A	22926574	G	A	22926574	2	1	22	1	0	0	0	0	0	0	0	1	7405	1074	38	1		1	HS3ST2	16	22926574	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	236	22926574	67428179	15579	17725											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													208	730					0	0	1	0	0	T	22926592	C	T	22926592	2	4	22	1	0	0	0	0	0	0	0	1	7405	883	31	1		1	HS3ST2	16	22926592	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18	22926592	67428161	15580	17726											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	613					0	0	1	0	0	T	23080093	C	T	23080093	2	4	22	1	0	0	0	0	0	0	0	1	17122	755	27	1		1	USP31	16	23080093	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153501	23080093	67274660	15581	17727											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	323					0	0	1	0	0	C	23093780	T	C	23093780	3	2	22	1	0	0	0	0	1	0	0	0	17122	1628	57	3	2149	3	USP31	16	23093780	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13687	23093780	67260973	15582	17728											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	209					0	0	1	0	0	T	23226069	C	T	23226069	2	4	22	1	0	0	0	0	0	0	0	1	13984	506	18	2		2	SCNN1G	16	23226069	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132289	23226069	67128684	15583	17729											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000307331.5_Silent_p.G218G|SCNN1B_ENST00000568923.1_Silent_p.G173G|SCNN1B_ENST00000568085.1_Silent_p.G173G	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													112	509					8.74965e-44	1.06917e-43	1	1	0	A	23364329	C	A	23364329	2	1	22	1	0	0	0	0	0	0	0	1	13982	784	28	2		2	SCNN1B	16	23364329	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138260	23364329	66990424	15584	17730											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23382619G>A	ENST00000343070.2	+	6	1056		c.e6-1		SCNN1B_ENST00000307331.5_Splice_Site|SCNN1B_ENST00000568923.1_Splice_Site|SCNN1B_ENST00000568085.1_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													34	134					0	0	1	0	0	A	23382619	G	A	23382619	5	1	22	1	0	0	0	0	0	0	1	0	13982	1014	35	2	898	2	SCNN1B	16	23382619	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18290	23382619	66972134	15585	17731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	252					0	0	1	0	0	A	23403772	G	A	23403772	3	1	22	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	15586	17732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	152					0	0	1	0	0	G	23430028	A	G	23430028	3	3	22	1	0	0	0	0	1	0	0	0	3686	159	6	3	1222	3	COG7	16	23430028	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26256	23430028	66924725	15587	17733											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000564987.1_Intron|EARS2_ENST00000564501.1_Missense_Mutation_p.A125V|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													9	107					0	0	1	0	0	A	23555946	G	A	23555946	3	1	22	1	0	0	0	0	1	0	0	0	4904	1203	42	2	1225	2	EARS2	16	23555946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125918	23555946	66798807	15588	17734											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					21	263					0	0	1	0	0	G	23641691	T	G	23641691	3	3	22	1	0	0	0	0	1	0	0	0	11453	1435	50	3	1812	3	PALB2	16	23641691	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	85745	23641691	66713062	15589	17735											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					106	496					0	0	1	0	0	T	23646945	C	T	23646945	3	4	22	1	0	0	0	0	1	0	0	0	11453	797	28	2	2678	2	PALB2	16	23646945	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5254	23646945	66707808	15590	17736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					84	313					0	0	1	0	0	T	23649187	C	T	23649187	2	4	22	1	0	0	0	0	0	0	0	1	11453	755	27	1		1	PALB2	16	23649187	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2242	23649187	66705566	15591	17737											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	421					0	0	1	0	0	G	23693421	T	G	23693421	2	3	22	1	0	0	0	0	0	0	0	1	12142	1596	56	3		3	PLK1	16	23693421	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44234	23693421	66661332	15592	17738											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	285					0	0	1	0	0	T	23702279	C	T	23702279	3	4	22	1	0	0	0	0	1	0	0	0	5266	768	27	1	130	1	ERN2	16	23702279	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8858	23702279	66652474	15593	17739											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	170					5.71845e-15	6.23116e-15	1	1	0	A	23706195	C	A	23706195	3	1	22	1	0	0	0	0	1	0	0	0	5266	623	22	2	850	2	ERN2	16	23706195	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3916	23706195	66648558	15594	17740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	453					1.63549e-45	2.00598e-45	1	1	0	T	23713497	G	T	23713497	2	4	22	1	0	0	0	0	0	0	0	1	5266	1219	43	2		2	ERN2	16	23713497	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7302	23713497	66641256	15595	17741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	236					0	0	1	0	0	A	23767434	G	A	23767434	3	1	22	1	0	0	0	0	1	0	0	0	3389	1087	38	1	286	1	CHP2	16	23767434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53937	23767434	66587319	15596	17742											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498058.1_Missense_Mutation_p.R19C|PRKCB_ENST00000321728.7_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													86	231					0	0	1	0	0	T	23847551	C	T	23847551	3	4	22	1	0	0	0	0	1	0	0	0	12560	768	27	1	57	1	PRKCB	16	23847551	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80117	23847551	66507202	15597	17743											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	510					5.53734e-46	6.79704e-46	1	1	0	T	24192159	G	T	24192159	3	4	22	1	0	0	0	0	1	0	0	0	12560	933	33	2	1493	2	PRKCB	16	24192159	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	344608	24192159	66162594	15598	17744											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	327					0	0	1	0	0	A	24226007	G	A	24226007	3	1	22	1	0	0	0	0	1	0	0	0	12560	1058	37	1	1958	1	PRKCB	16	24226007	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33848	24226007	66128746	15599	17745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348022.2_Intron|RBBP6_ENST00000319715.4_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													18	48					5.03518e-11	5.3609e-11	1	1	0	A	24560342	C	A	24560342	3	1	22	1	0	0	0	0	1	0	0	0	13155	797	28	2	353	2	RBBP6	16	24560342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	334335	24560342	65794411	15600	17746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	822					2.41591e-17	2.66597e-17	1	1	0	T	24574565	G	T	24574565	3	4	22	1	0	0	0	0	1	0	0	0	13155	962	34	2	1431	2	RBBP6	16	24574565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14223	24574565	65780188	15601	17747											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	374					0	0	1	0	0	G	24581479	A	G	24581479	2	3	22	1	0	0	0	0	0	0	0	1	13155	407	15	3		3	RBBP6	16	24581479	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6914	24581479	65773274	15602	17748											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	362					0	0	1	0	0	T	24581622	C	T	24581622	3	4	22	1	0	0	0	0	1	0	0	0	13155	768	27	1	3731	1	RBBP6	16	24581622	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143	24581622	65773131	15603	17749											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	620					2.27111e-07	2.35674e-07	1	1	0	A	24788479	C	A	24788479	3	1	22	1	0	0	0	0	1	0	0	0	16400	681	24	2	407	2	TNRC6A	16	24788479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206857	24788479	65566274	15604	17750											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	645					0	0	1	0	0	A	24831545	G	A	24831545	2	1	22	1	0	0	0	0	0	0	0	1	16400	1310	46	2		2	TNRC6A	16	24831545	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43066	24831545	65523208	15605	17751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000569071.1_Silent_p.G516G|SLC5A11_ENST00000424767.2_Silent_p.G637G|SLC5A11_ENST00000568579.1_Silent_p.G602G|SLC5A11_ENST00000539472.1_Silent_p.G608G|SLC5A11_ENST00000545376.1_Silent_p.G602G|SLC5A11_ENST00000565769.1_Silent_p.G608G|SLC5A11_ENST00000567758.1_Silent_p.G637G|SLC5A11_ENST00000449109.2_Silent_p.G516G	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													118	542					0	0	1	0	0	T	24922842	C	T	24922842	2	4	22	1	0	0	0	0	0	0	0	1	14718	784	28	2		2	SLC5A11	16	24922842	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91297	24922842	65431911	15606	17752											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000303665.5_Missense_Mutation_p.E799D|ARHGAP17_ENST00000441763.2_3'UTR	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													140	586					1.50598e-64	1.90284e-64	1	1	0	A	24931466	C	A	24931466	3	1	22	1	0	0	0	0	1	0	0	0	864	912	32	2	18	2	ARHGAP17	16	24931466	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8624	24931466	65423287	15607	17753											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24942726C>A	ENST00000289968.6	-	19	1964		c.e19-1		ARHGAP17_ENST00000303665.5_Splice_Site|ARHGAP17_ENST00000441763.2_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													106	325					6.84326e-50	8.47065e-50	1	1	0	A	24942726	C	A	24942726	5	1	22	1	0	0	0	0	0	0	1	0	864	811	28	2	759	2	ARHGAP17	16	24942726	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11260	24942726	65412027	15608	17754											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000303665.5_Missense_Mutation_p.G522D|ARHGAP17_ENST00000441763.2_3'UTR	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													17	137					0	0	1	0	0	T	24946886	C	T	24946886	3	4	22	1	0	0	0	0	1	0	0	0	864	739	26	2	858	2	ARHGAP17	16	24946886	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4160	24946886	65407867	15609	17755											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000303665.5_Silent_p.R411R|ARHGAP17_ENST00000441763.2_3'UTR	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													18	262					0	0	1	0	0	C	24958811	T	C	24958811	2	2	22	1	0	0	0	0	0	0	0	1	864	1780	62	3		3	ARHGAP17	16	24958811	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11925	24958811	65395942	15610	17756											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	137					0	0	1	0	0	A	25143812	G	A	25143812	3	1	22	1	0	0	0	0	1	0	0	0	8717	1203	42	2	305	2	LCMT1	16	25143812	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	185001	25143812	65210941	15611	17757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	359					0	0	1	0	0	G	25189343	A	G	25189343	2	3	22	1	0	0	0	0	0	0	0	1	8717	369	13	3		3	LCMT1	16	25189343	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45531	25189343	65165410	15612	17758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													286	1224					0	0	1	0	0	A	25228637	G	A	25228637	3	1	22	1	0	0	0	0	1	0	0	0	829	1203	42	2	137	2	AQP8	16	25228637	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39294	25228637	65126116	15613	17759											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	270					0	0	1	0	0	A	25251325	G	A	25251325	3	1	22	1	0	0	0	0	1	0	0	0	17745	1057	37	1	191	1	ZKSCAN2	16	25251325	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22688	25251325	65103428	15614	17760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	292					0	0	1	0	0	T	25251415	C	T	25251415	3	4	22	1	0	0	0	0	1	0	0	0	17745	768	27	1	281	1	ZKSCAN2	16	25251415	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90	25251415	65103338	15615	17761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	393					0	0	1	0	0	A	25255541	G	A	25255541	3	1	22	1	0	0	0	0	1	0	0	0	17745	1057	37	1	1365	1	ZKSCAN2	16	25255541	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4126	25255541	65099212	15616	17762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	354					0	0	1	0	0	C	25258585	A	C	25258585	3	2	22	1	0	0	0	0	1	0	0	0	17745	43	2	3	1983	3	ZKSCAN2	16	25258585	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3044	25258585	65096168	15617	17763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380922.3_Missense_Mutation_p.T424A|IL4R_ENST00000170630.2_Missense_Mutation_p.T439A	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													18	451					0	0	1	0	0	G	27373988	A	G	27373988	3	3	22	1	0	0	0	0	1	0	0	0	7742	391	14	3	1367	3	IL4R	16	27373988	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2115403	27373988	62980765	15618	17764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.G484D|IL21R_ENST00000395755.1_Missense_Mutation_p.G484D|IL21R_ENST00000564089.1_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								34	340					0	0	1	0	0	A	27460438	G	A	27460438	3	1	22	1	0	0	0	0	1	0	0	0	7715	1203	42	2	1481	2	IL21R	16	27460438	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86450	27460438	62894315	15619	17765											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	132					0	0	1	0	0	C	27473805	T	C	27473805	3	2	22	1	0	0	0	0	1	0	0	0	6913	1667	58	3	410	3	GTF3C1	16	27473805	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13367	27473805	62880948	15620	17766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	919					5.61819e-17	6.18885e-17	1	1	0	T	27481690	G	T	27481690	3	4	22	1	0	0	0	0	1	0	0	0	6913	1261	44	2	1804	2	GTF3C1	16	27481690	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7885	27481690	62873063	15621	17767											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	285					0	0	1	0	0	A	27495625	G	A	27495625	3	1	22	1	0	0	0	0	1	0	0	0	6913	1203	42	2	2473	2	GTF3C1	16	27495625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13935	27495625	62859128	15622	17768											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	84					0	0	1	0	0	A	27500951	G	A	27500951	3	1	22	1	0	0	0	0	1	0	0	0	6913	1087	38	1	3136	1	GTF3C1	16	27500951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5326	27500951	62853802	15623	17769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	432					0	0	1	0	0	A	27503771	G	A	27503771	2	1	22	1	0	0	0	0	0	0	0	1	6913	1252	44	2		2	GTF3C1	16	27503771	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2820	27503771	62850982	15624	17770											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	237					0	0	1	0	0	A	27506672	G	A	27506672	3	1	22	1	0	0	0	0	1	0	0	0	6913	1145	40	1	3929	1	GTF3C1	16	27506672	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2901	27506672	62848081	15625	17771											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	22					0	0	1	0	0	A	27642431	G	A	27642431	3	1	22	1	0	0	0	0	1	0	0	0	8225	942	33	2	374	2	KIAA0556	16	27642431	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135759	27642431	62712322	15626	17772											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													139	481					3.43777e-51	4.26453e-51	1	1	0	A	27751850	C	A	27751850	2	1	22	1	0	0	0	0	0	0	0	1	8225	903	32	2		2	KIAA0556	16	27751850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109419	27751850	62602903	15627	17773											
KIAA0556	23247	broad.mit.edu	37	chr16	27789047	27789047	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccacaccatcctcttcacCgaggacagggacatccgcca	7	17	2	0	rs113619157	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27789047C>T	ENST00000261588.4	+	26	4687	c.4668C>T	c.(4666-4668)acC>acT	p.T1556T		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1556										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						TCCTCTTCACCGAGGACAGGG	0.637													103	417					0	0	1	0	0	T	27789047	C	T	27789047	2	4	22	1	0	0	0	0	0	0	0	1	8225	639	23	1		1	KIAA0556	16	27789047	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37197	27789047	62565706	15628	17774											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447459.2_Missense_Mutation_p.Y297N|GSG1L_ENST00000569166.1_Missense_Mutation_p.Y160N|GSG1L_ENST00000380897.3_Missense_Mutation_p.Y142N|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													22	99					0	0	1	0	0	T	27818817	A	T	27818817	3	4	22	1	0	0	0	0	1	0	0	0	6862	449	16	5	114	5	GSG1L	16	27818817	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29770	27818817	62535936	15629	17775											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447459.2_Missense_Mutation_p.K251N|GSG1L_ENST00000569166.1_Missense_Mutation_p.K96N|GSG1L_ENST00000380897.3_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													53	253					6.4308e-24	7.32928e-24	1	1	0	A	27840187	C	A	27840187	3	1	22	1	0	0	0	0	1	0	0	0	6862	796	28	2	254	2	GSG1L	16	27840187	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21370	27840187	62514566	15630	17776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447459.2_Missense_Mutation_p.G205S|GSG1L_ENST00000569166.1_Missense_Mutation_p.G50S|GSG1L_ENST00000380897.3_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													21	95					0	0	1	0	0	T	27856320	C	T	27856320	3	4	22	1	0	0	0	0	1	0	0	0	6862	652	23	1	398	1	GSG1L	16	27856320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16133	27856320	62498433	15631	17777											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_015171.2	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													98	355					0	0	1	0	0	T	28167624	C	T	28167624	3	4	22	1	0	0	0	0	1	0	0	0	17508	739	26	2	2581	2	XPO6	16	28167624	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	311304	28167624	62187129	15632	17778											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	45					0	0	1	0	0	A	28331401	G	A	28331401	3	1	22	1	0	0	0	0	1	0	0	0	13913	1232	43	2	444	2	SBK1	16	28331401	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163777	28331401	62023352	15633	17779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357857.9_Missense_Mutation_p.R266C|CLN3_ENST00000357806.7_Missense_Mutation_p.R221C|CLN3_ENST00000355477.5_Missense_Mutation_p.R272C|CLN3_ENST00000354630.5_Missense_Mutation_p.R303C|CLN3_ENST00000395653.4_Missense_Mutation_p.R220C|CLN3_ENST00000360019.2_Missense_Mutation_p.R320C|CLN3_ENST00000535392.1_Missense_Mutation_p.R242C|CLN3_ENST00000359984.7_Missense_Mutation_p.R320C|CLN3_ENST00000568224.1_Missense_Mutation_p.R242C|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000565316.1_Missense_Mutation_p.R303C|CLN3_ENST00000333496.9_Missense_Mutation_p.R296C|CLN3_ENST00000357076.5_Missense_Mutation_p.R210C			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													31	121					0	0	1	0	0	A	28493652	G	A	28493652	3	1	22	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	15634	17780											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	309					0	0	1	0	0	T	28596992	C	T	28596992	2	4	22	1	0	0	0	0	0	0	0	1	2753	796	28	2		2	CCDC101	16	28596992	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103340	28596992	61757761	15635	17781											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	108					0	0	1	0	0	T	28602223	C	T	28602223	2	4	22	1	0	0	0	0	0	0	0	1	2753	912	32	2		2	CCDC101	16	28602223	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5231	28602223	61752530	15636	17782											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_803564.1	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													86	379					2.3666e-43	2.88907e-43	1	1	0	A	28604766	C	A	28604766	4	1	22	1	0	0	0	0	0	1	0	0	15429	922	32	2	407	2	SULT1A2	16	28604766	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2543	28604766	61749987	15637	17783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000564243.1_Missense_Mutation_p.R264Q|EIF3C_ENST00000395587.1_Missense_Mutation_p.R274Q|EIF3C_ENST00000566866.1_Missense_Mutation_p.R274Q|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													56	1151					0	0	1	0	0	A	28734529	G	A	28734529	3	1	22	1	0	0	0	0	1	0	0	0	5040	1116	39	1	3676	1	EIF3C	16	28734529	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129763	28734529	61620224	15638	17784											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000564243.1_Silent_p.K271K|EIF3C_ENST00000395587.1_Silent_p.K281K|EIF3C_ENST00000566866.1_Silent_p.K281K|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													187	1982					0	0	1	0	0	A	28734551	G	A	28734551	2	1	22	1	0	0	0	0	0	0	0	1	5040	962	34	2		2	EIF3C	16	28734551	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22	28734551	61620202	15639	17785											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000570200.1_Missense_Mutation_p.V190G|ATXN2L_ENST00000340394.8_Missense_Mutation_p.V190G|ATXN2L_ENST00000395547.2_Missense_Mutation_p.V190G|ATXN2L_ENST00000382686.4_Missense_Mutation_p.V190G|ATXN2L_ENST00000564304.1_Missense_Mutation_p.V190G|ATXN2L_ENST00000325215.6_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													85	431					0	0	1	0	0	G	28837664	T	G	28837664	3	3	22	1	0	0	0	0	1	0	0	0	1210	1667	58	3	587	3	ATXN2L	16	28837664	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	103113	28837664	61517089	15640	17786											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000570200.1_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000340394.8_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000395547.2_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000382686.4_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000564304.1_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000325215.6_Nonsense_Mutation_p.R365*|RP11-24N18.1_ENST00000563565.1_RNA	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													62	231					0	0	1	0	0	T	28841994	C	T	28841994	4	4	22	1	0	0	0	0	0	1	0	0	1210	876	31	1	1127	1	ATXN2L	16	28841994	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4330	28841994	61512759	15641	17787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538342.1_Intron|SH2B1_ENST00000322610.8_Missense_Mutation_p.R173W|SH2B1_ENST00000359285.5_Missense_Mutation_p.R173W|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.R173W|SH2B1_ENST00000545570.1_Intron	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													131	433					0	0	1	0	0	T	28877932	C	T	28877932	3	4	22	1	0	0	0	0	1	0	0	0	14281	759	27	1	519	1	SH2B1	16	28877932	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35938	28877932	61476821	15642	17788											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538342.1_Missense_Mutation_p.L285R|SH2B1_ENST00000322610.8_Missense_Mutation_p.L621R|SH2B1_ENST00000359285.5_Missense_Mutation_p.L621R|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.L621R|SH2B1_ENST00000545570.1_Missense_Mutation_p.L311R	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													16	315					0	0	1	0	0	G	28883991	T	G	28883991	3	3	22	1	0	0	0	0	1	0	0	0	14281	1609	56	3	1888	3	SH2B1	16	28883991	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6059	28883991	61470762	15643	17789											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536376.1_Missense_Mutation_p.G197D|ATP2A1_ENST00000357084.3_Missense_Mutation_p.G322D	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													153	608					0	0	1	0	0	A	28900144	G	A	28900144	3	1	22	1	0	0	0	0	1	0	0	0	1135	1261	44	2	999	2	ATP2A1	16	28900144	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16153	28900144	61454609	15644	17790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536376.1_Missense_Mutation_p.G598S|ATP2A1_ENST00000357084.3_Missense_Mutation_p.G723S	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													44	164					0	0	1	0	0	A	28913250	G	A	28913250	3	1	22	1	0	0	0	0	1	0	0	0	1135	1348	47	2	2229	2	ATP2A1	16	28913250	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13106	28913250	61441503	15645	17791											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536376.1_Missense_Mutation_p.R711C|ATP2A1_ENST00000357084.3_Missense_Mutation_p.R836C	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													44	508					0	0	1	0	0	T	28913689	C	T	28913689	3	4	22	1	0	0	0	0	1	0	0	0	1135	652	23	1	2572	1	ATP2A1	16	28913689	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	439	28913689	61441064	15646	17792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544477.1_Missense_Mutation_p.R308W|RABEP2_ENST00000357573.6_Missense_Mutation_p.R347W	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													139	824					0	0	1	0	0	A	28920040	G	A	28920040	3	1	22	1	0	0	0	0	1	0	0	0	13014	1086	38	1	598	1	RABEP2	16	28920040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6351	28920040	61434713	15647	17793											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000324662.3_Missense_Mutation_p.P20S|CD19_ENST00000567541.1_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													48	538					0	0	1	0	0	T	28943379	C	T	28943379	3	4	22	1	0	0	0	0	1	0	0	0	2995	739	26	2	60	2	CD19	16	28943379	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23339	28943379	61411374	15648	17794											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28995106G>A	ENST00000311008.11	+	11	1697		c.e11-1		SPNS1_ENST00000565975.1_Splice_Site|SPNS1_ENST00000334536.8_Splice_Site|SPNS1_ENST00000352260.7_Splice_Site|RP11-264B17.3_ENST00000569969.1_RNA|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													99	506					0	0	1	0	0	A	28995106	G	A	28995106	5	1	22	1	0	0	0	0	0	0	1	0	15130	956	33	2	1362	2	SPNS1	16	28995106	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51727	28995106	61359647	15649	17795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SPNS1_ENST00000565975.1_Silent_p.S508S|SPNS1_ENST00000334536.8_Silent_p.S411S|SPNS1_ENST00000352260.7_Silent_p.S389S|RP11-264B17.3_ENST00000569969.1_RNA|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													118	563					0	0	1	0	0	A	28995175	G	A	28995175	2	1	22	1	0	0	0	0	0	0	0	1	15130	1074	38	1		1	SPNS1	16	28995175	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69	28995175	61359578	15650	17796											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	131					0	0	1	0	0	A	29755643	G	A	29755643	2	1	22	1	0	0	0	0	0	0	0	1	1826	932	33	2		2	C16orf54	16	29755643	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	760468	29755643	60599110	15651	17797											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000160827.4_Nonsense_Mutation_p.Q109*|KIF22_ENST00000400751.5_Nonsense_Mutation_p.Q41*|KIF22_ENST00000569382.2_Nonsense_Mutation_p.Q41*|KIF22_ENST00000400750.2_5'UTR	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													92	379					0	0	1	0	0	T	29809753	C	T	29809753	4	4	22	1	0	0	0	0	0	1	0	0	8332	711	25	2	335	2	KIF22	16	29809753	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54110	29809753	60545000	15652	17798											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000160827.4_Missense_Mutation_p.R202W|KIF22_ENST00000400751.5_Missense_Mutation_p.R134W|KIF22_ENST00000569382.2_Missense_Mutation_p.R134W|KIF22_ENST00000400750.2_5'UTR	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													96	610					0	0	1	0	0	T	29810350	C	T	29810350	3	4	22	1	0	0	0	0	1	0	0	0	8332	643	23	1	622	1	KIF22	16	29810350	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	597	29810350	60544403	15653	17799											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000567551.1_Intron|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000358758.7_Missense_Mutation_p.D143Y|PRRT2_ENST00000567659.1_Missense_Mutation_p.D143Y			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													76	227					7.25294e-45	8.88171e-45	1	1	0	T	29824802	G	T	29824802	3	4	22	1	0	0	0	0	1	0	0	0	12660	942	33	2	429	2	PRRT2	16	29824802	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14452	29824802	60529951	15654	17800											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	175					0	0	1	0	0	T	29842323	C	T	29842323	3	4	22	1	0	0	0	0	1	0	0	0	10044	884	31	1	256	1	MVP	16	29842323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17521	29842323	60512430	15655	17801											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	203					0	0	1	0	0	T	29853245	C	T	29853245	2	4	22	1	0	0	0	0	0	0	0	1	10044	883	31	1		1	MVP	16	29853245	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10922	29853245	60501508	15656	17802											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000566113.1_Missense_Mutation_p.R164H|CDIPT_ENST00000561555.1_Missense_Mutation_p.R233H|CDIPT_ENST00000569956.1_Missense_Mutation_p.R209H|CDIPT_ENST00000570016.1_Missense_Mutation_p.R209H|CDIPT_ENST00000563415.1_3'UTR	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													12	41					0	0	1	0	0	T	29870526	C	T	29870526	3	4	22	1	0	0	0	0	1	0	0	0	3145	768	27	1	19	1	CDIPT	16	29870526	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17281	29870526	60484227	15657	17803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000566113.1_Missense_Mutation_p.F9C|CDIPT_ENST00000569956.1_Missense_Mutation_p.F9C|CDIPT_ENST00000570016.1_Missense_Mutation_p.F9C|CDIPT_ENST00000563415.1_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													158	784					0	0	1	0	0	C	29874153	A	C	29874153	3	2	22	1	0	0	0	0	1	0	0	0	3145	246	9	3	639	3	CDIPT	16	29874153	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3627	29874153	60480600	15658	17804											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346932.5_Missense_Mutation_p.D568N|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.D612N|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.D638N	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													14	79					0	0	1	0	0	T	29888137	C	T	29888137	3	4	22	1	0	0	0	0	1	0	0	0	14198	884	31	1	755	1	SEZ6L2	16	29888137	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13984	29888137	60466616	15659	17805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346932.5_Missense_Mutation_p.E393K|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.E437K|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.E463K	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													222	938					0	0	1	0	0	T	29891239	C	T	29891239	3	4	22	1	0	0	0	0	1	0	0	0	14198	893	31	1	1292	1	SEZ6L2	16	29891239	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3102	29891239	60463514	15660	17806											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	304					0	0	1	0	0	C	29989137	T	C	29989137	3	2	22	1	0	0	0	0	1	0	0	0	15605	1696	59	3	46	3	TAOK2	16	29989137	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	97898	29989137	60365616	15661	17807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543033.1_Missense_Mutation_p.L569I|TAOK2_ENST00000279394.3_Missense_Mutation_p.L569I|TAOK2_ENST00000416441.2_Missense_Mutation_p.L396I	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													37	146					2.28855e-06	2.35735e-06	1	1	0	A	29996816	C	A	29996816	3	1	22	1	0	0	0	0	1	0	0	0	15605	681	24	2	1755	2	TAOK2	16	29996816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7679	29996816	60357937	15662	17808											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543033.1_Missense_Mutation_p.D769N|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Missense_Mutation_p.D709N	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													69	241					0	0	1	0	0	A	29998237	G	A	29998237	3	1	22	1	0	0	0	0	1	0	0	0	15605	1174	41	2	2702	2	TAOK2	16	29998237	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1421	29998237	60356516	15663	17809											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543033.1_Silent_p.P1078P|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Silent_p.P1018P	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													30	137					0	0	1	0	0	T	29999166	C	T	29999166	2	4	22	1	0	0	0	0	0	0	0	1	15605	581	21	2		2	TAOK2	16	29999166	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	929	29999166	60355587	15664	17810											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	271					0	0	1	0	0	C	30004620	T	C	30004620	3	2	22	1	0	0	0	0	1	0	0	0	7162	1667	58	3	95	3	HIRIP3	16	30004620	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5454	30004620	60350133	15665	17811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000567254.1_Missense_Mutation_p.S47P|INO80E_ENST00000304516.7_Missense_Mutation_p.S47P|INO80E_ENST00000563040.1_3'UTR|INO80E_ENST00000567705.1_Missense_Mutation_p.S47P	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													7	45					0	0	1	0	0	C	30007925	T	C	30007925	3	2	22	1	0	0	0	0	1	0	0	0	7794	1667	58	3	145	3	INO80E	16	30007925	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3305	30007925	60346828	15666	17812											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003586.2	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													63	263					0	0	1	0	0	T	30021360	C	T	30021360	3	4	22	1	0	0	0	0	1	0	0	0	4710	739	26	2	1058	2	DOC2A	16	30021360	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13435	30021360	60333393	15667	17813											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	459					1.21826e-31	1.43537e-31	1	1	0	A	30094745	C	A	30094745	2	1	22	1	0	0	0	0	0	0	0	1	12451	643	23	4		4	PPP4C	16	30094745	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73385	30094745	60260008	15668	17814											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395224.2_Missense_Mutation_p.R171C|TBX6_ENST00000279386.2_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													119	556					0	0	1	0	0	A	30100374	G	A	30100374	3	1	22	1	0	0	0	0	1	0	0	0	15722	1116	39	1	823	1	TBX6	16	30100374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5629	30100374	60254379	15669	17815											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	251					2.81305e-35	3.35631e-35	1	1	0	T	30116209	G	T	30116209	3	4	22	1	0	0	0	0	1	0	0	0	6367	971	34	2	19	2	GDPD3	16	30116209	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15835	30116209	60238544	15670	17816											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	32					0.00829132	0.00834067	1	1	0	A	30370680	C	A	30370680	3	1	22	1	0	0	0	0	1	0	0	0	15656	680	24	2	983	2	TBC1D10B	16	30370680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	254471	30370680	59984073	15671	17817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000571393.1_Missense_Mutation_p.D152Y|SEPT1_ENST00000605106.1_Missense_Mutation_p.D157Y	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													113	385					1.00382e-66	1.27077e-66	1	1	0	A	30392552	C	A	30392552	3	1	22	1	0	0	0	0	1	0	0	0	14113	913	32	2	673	2	SEPT1	16	30392552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21872	30392552	59962201	15672	17818											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.P741L	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													16	1134					0	0	1	0	0	T	30518143	C	T	30518143	3	4	22	1	0	0	0	0	1	0	0	0	7930	652	23	1	2556	1	ITGAL	16	30518143	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125591	30518143	59836610	15673	17819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	252					0	0	1	0	0	T	30536376	C	T	30536376	3	4	22	1	0	0	0	0	1	0	0	0	18191	884	31	1	541	1	ZNF768	16	30536376	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18233	30536376	59818377	15674	17820											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	647					0	0	1	0	0	T	30536780	C	T	30536780	2	4	22	1	0	0	0	0	0	0	0	1	18191	755	27	1		1	ZNF768	16	30536780	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	404	30536780	59817973	15675	17821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	937					0	0	1	0	0	A	30536921	G	A	30536921	2	1	22	1	0	0	0	0	0	0	0	1	18191	1103	39	1		1	ZNF768	16	30536921	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141	30536921	59817832	15676	17822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	493					0	0	1	0	0	T	30537047	C	T	30537047	2	4	22	1	0	0	0	0	0	0	0	1	18191	842	30	2		2	ZNF768	16	30537047	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126	30537047	59817706	15677	17823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30544313C>T	ENST00000535210.1	-	3	672	c.500G>A	c.(499-501)cGc>cAc	p.R167H	ZNF747_ENST00000568028.1_Missense_Mutation_p.R167H|ZNF747_ENST00000569360.1_Missense_Mutation_p.R167H|ZNF747_ENST00000395094.3_3'UTR|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													7	181					0	0	1	0	0	T	30544313	C	T	30544313	3	4	22	1	0	0	0	0	1	0	0	0	18180	783	27	1		1	ZNF747	16	30544313	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7266	30544313	59810440	15678	17824											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.R159H			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													7	170					0	0	1	0	0	T	30567266	C	T	30567266	3	4	22	1	0	0	0	0	1	0	0	0	18188	768	27	1	754	1	ZNF764	16	30567266	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22953	30567266	59787487	15679	17825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.D125N			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													90	372					0	0	1	0	0	T	30567369	C	T	30567369	3	4	22	1	0	0	0	0	1	0	0	0	18188	884	31	1	857	1	ZNF764	16	30567369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103	30567369	59787384	15680	17826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	103					0	0	1	0	0	T	30581384	C	T	30581384	2	4	22	1	0	0	0	0	0	0	0	1	18149	755	27	1		1	ZNF688	16	30581384	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14015	30581384	59773369	15681	17827											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Silent_p.C327C	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													79	388					0	0	1	0	0	A	30594073	G	A	30594073	2	1	22	1	0	0	0	0	0	0	0	1	18206	1079	38	1		1	ZNF785	16	30594073	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12689	30594073	59760680	15682	17828											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	272					0	0	1	0	0	A	30664242	G	A	30664242	3	1	22	1	0	0	0	0	1	0	0	0	12638	1058	37	1	336	1	PRR14	16	30664242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70169	30664242	59690511	15683	17829											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Nonsense_Mutation_p.Q293*			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													13	329					0	0	1	0	0	T	30666168	C	T	30666168	4	4	22	1	0	0	0	0	0	1	0	0	12638	711	25	2	903	2	PRR14	16	30666168	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1926	30666168	59688585	15684	17830											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000571654.1_Intron|PRR14_ENST00000300835.4_Silent_p.P359P			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													66	360					0	0	1	0	0	A	30666368	G	A	30666368	2	1	22	1	0	0	0	0	0	0	0	1	12638	1074	38	1		1	PRR14	16	30666368	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200	30666368	59688385	15685	17831	115	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000571654.1_Intron|PRR14_ENST00000300835.4_Missense_Mutation_p.R360Q			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													88	339					0	0	1	0	0	A	30666370	G	A	30666370	3	1	22	1	0	0	0	0	1	0	0	0	12638	1116	39	1	1105	1	PRR14	16	30666370	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2	30666370	59688383	15686	17832	115	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	615					0	0	1	0	0	A	30667463	G	A	30667463	3	1	22	1	0	0	0	0	1	0	0	0	12638	1058	37	1	1631	1	PRR14	16	30667463	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1093	30667463	59687290	15687	17833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000287468.5_Missense_Mutation_p.A218T|FBRS_ENST00000568722.1_Missense_Mutation_p.A130T|FBRS_ENST00000395073.2_Missense_Mutation_p.A130T			Q9HAH7	FBRS_HUMAN	fibrosin	218										ovary(1)	1			Colorectal(24;0.103)			ACCAGCCTTCGCCTCCCCACC	0.687													13	83					0	0	1	0	0	A	30680146	G	A	30680146	3	1	22	1	0	0	0	0	1	0	0	0	5740	1087	38	1	690	1	FBRS	16	30680146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12683	30680146	59674607	15688	17834											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000287468.5_Missense_Mutation_p.P419L|FBRS_ENST00000568722.1_Missense_Mutation_p.P331L|FBRS_ENST00000395073.2_Missense_Mutation_p.P331L			Q9HAH7	FBRS_HUMAN	fibrosin	419										ovary(1)	1			Colorectal(24;0.103)			GCTGCGGCCCCGGGAACCCCT	0.716													25	1568					0	0	1	0	0	T	30680839	C	T	30680839	3	4	22	1	0	0	0	0	1	0	0	0	5740	652	23	1	1298	1	FBRS	16	30680839	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	693	30680839	59673914	15689	17835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	373					0	0	1	0	0	A	30740437	G	A	30740437	3	1	22	1	0	0	0	0	1	0	0	0	15191	1116	39	1	5903	1	SRCAP	16	30740437	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59598	30740437	59614316	15690	17836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	369					3.45148e-53	4.30018e-53	1	1	0	T	30745907	G	T	30745907	3	4	22	1	0	0	0	0	1	0	0	0	15191	1203	42	2	6814	2	SRCAP	16	30745907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5470	30745907	59608846	15691	17837											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	311					2.47316e-13	2.66891e-13	1	1	0	T	30749384	G	T	30749384	4	4	22	1	0	0	0	0	0	1	0	0	15191	1175	41	2	8149	2	SRCAP	16	30749384	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3477	30749384	59605369	15692	17838											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	316					0	0	1	0	0	G	30750367	A	G	30750367	2	3	22	1	0	0	0	0	0	0	0	1	15191	146	6	3		3	SRCAP	16	30750367	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	983	30750367	59604386	15693	17839											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545825.1_3'UTR|PHKG2_ENST00000563588.1_3'UTR|C16orf93_ENST00000541260.1_Intron|C16orf93_ENST00000543610.1_Intron	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													11	44					0	0	1	0	0	T	30771464	C	T	30771464	2	4	22	1	0	0	0	0	0	0	0	1	11895	796	28	2		2	PHKG2	16	30771464	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21097	30771464	59583289	15694	17840											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000563683.1_Missense_Mutation_p.R423H|RNF40_ENST00000357890.5_Missense_Mutation_p.R363H|RNF40_ENST00000402121.3_Missense_Mutation_p.R155H	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	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													40	113					0	0	1	0	0	A	30778156	G	A	30778156	3	1	22	1	0	0	0	0	1	0	0	0	13545	1087	38	1	1426	1	RNF40	16	30778156	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6692	30778156	59576597	15695	17841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	324					0	0	1	0	0	T	30794890	C	T	30794890	2	4	22	1	0	0	0	0	0	0	0	1	18110	796	28	2		2	ZNF629	16	30794890	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16734	30794890	59559863	15696	17842											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	411					0	0	1	0	0	G	30997931	A	G	30997931	3	3	22	1	0	0	0	0	1	0	0	0	7433	43	2	3	451	3	HSD3B7	16	30997931	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	203041	30997931	59356822	15697	17843											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	1268					2.46105e-21	2.77029e-21	1	1	0	T	30999191	G	T	30999191	3	4	22	1	0	0	0	0	1	0	0	0	7433	1000	35	2	819	2	HSD3B7	16	30999191	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1260	30999191	59355562	15698	17844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	192					0	0	1	0	0	A	30999413	G	A	30999413	3	1	22	1	0	0	0	0	1	0	0	0	7433	1087	38	1	1041	1	HSD3B7	16	30999413	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222	30999413	59355340	15699	17845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													130	537					0	0	1	0	0	T	31050965	C	T	31050965	3	4	22	1	0	0	0	0	1	0	0	0	15403	768	27	1	840	1	STX4	16	31050965	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51552	31050965	59303788	15700	17846											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													216	910					0	0	1	0	0	A	31051083	G	A	31051083	3	1	22	1	0	0	0	0	1	0	0	0	15403	1145	40	1	891	1	STX4	16	31051083	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118	31051083	59303670	15701	17847											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394983.2_Missense_Mutation_p.A584V|ZNF668_ENST00000426488.2_Missense_Mutation_p.A607V|ZNF668_ENST00000539836.3_Missense_Mutation_p.A607V|ZNF668_ENST00000535577.1_Missense_Mutation_p.A584V	NM_001172668.1	NP_001166139.1	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													150	505					0	0	1	0	0	A	31072498	G	A	31072498	3	1	22	1	0	0	0	0	1	0	0	0	18132	1203	42	2	112	2	ZNF668	16	31072498	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21415	31072498	59282255	15702	17848											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394983.2_Missense_Mutation_p.R564H|ZNF668_ENST00000426488.2_Missense_Mutation_p.R587H|ZNF668_ENST00000539836.3_Missense_Mutation_p.R587H|ZNF668_ENST00000535577.1_Missense_Mutation_p.R564H	NM_001172668.1	NP_001166139.1	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													27	540					0	0	1	0	0	T	31072558	C	T	31072558	3	4	22	1	0	0	0	0	1	0	0	0	18132	768	27	1	172	1	ZNF668	16	31072558	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	31072558	59282195	15703	17849											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394983.2_Missense_Mutation_p.A78T|ZNF668_ENST00000426488.2_Missense_Mutation_p.A101T|ZNF668_ENST00000539836.3_Missense_Mutation_p.A101T|ZNF668_ENST00000535577.1_Missense_Mutation_p.A78T	NM_001172668.1	NP_001166139.1	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													13	397					0	0	1	0	0	T	31075549	C	T	31075549	3	4	22	1	0	0	0	0	1	0	0	0	18132	768	27	1	1635	1	ZNF668	16	31075549	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2991	31075549	59279204	15704	17850											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	276					0	0	1	0	0	T	31087864	C	T	31087864	2	4	22	1	0	0	0	0	0	0	0	1	18119	726	26	2		2	ZNF646	16	31087864	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12315	31087864	59266889	15705	17851											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	215					0	0	1	0	0	A	31088351	G	A	31088351	3	1	22	1	0	0	0	0	1	0	0	0	18119	1175	41	2	708	2	ZNF646	16	31088351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	487	31088351	59266402	15706	17852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	318					0	0	1	0	0	A	31089384	G	A	31089384	3	1	22	1	0	0	0	0	1	0	0	0	18119	1377	48	2	1741	2	ZNF646	16	31089384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1033	31089384	59265369	15707	17853											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	79					0	0	1	0	0	A	31096484	G	A	31096484	2	1	22	1	0	0	0	0	0	0	0	1	12681	1074	38	1		1	PRSS53	16	31096484	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7100	31096484	59258269	15708	17854											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000300851.6_Missense_Mutation_p.A90D|VKORC1_ENST00000394975.2_Missense_Mutation_p.L70M|VKORC1_ENST00000394971.3_Missense_Mutation_p.A101D|VKORC1_ENST00000498155.1_Missense_Mutation_p.A102D|VKORC1_ENST00000354895.4_Intron|RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.L70M			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													68	287					1.15098e-32	1.36004e-32	1	1	0	T	31104708	G	T	31104708	3	4	22	1	0	0	0	0	1	0	0	0	17232	962	34	2	291	2	VKORC1	16	31104708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8224	31104708	59250045	15709	17855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000300851.6_Silent_p.F83F|VKORC1_ENST00000394975.2_Missense_Mutation_p.F63S|VKORC1_ENST00000394971.3_Silent_p.F94F|VKORC1_ENST00000498155.1_Silent_p.F95F|VKORC1_ENST00000354895.4_Intron|RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.F63S			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													53	247					0	0	1	0	0	G	31104728	A	G	31104728	3	3	22	1	0	0	0	0	1	0	0	0	17232	246	9	3	311	3	VKORC1	16	31104728	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20	31104728	59250025	15710	17856											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	428					2.75442e-36	3.29635e-36	1	1	0	T	31157151	G	T	31157151	3	4	22	1	0	0	0	0	1	0	0	0	12674	962	34	2	1928	2	PRSS36	16	31157151	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52423	31157151	59197602	15711	17857											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000568685.1_Silent_p.G483G|FUS_ENST00000474990.1_3'UTR	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"								107	502					0	0	1	0	0	T	31202336	C	T	31202336	2	4	22	1	0	0	0	0	0	0	0	1	6135	755	27	1		1	FUS	16	31202336	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45185	31202336	59152417	15712	17858											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	44					0	0	1	0	0	A	31289327	G	A	31289327	3	1	22	1	0	0	0	0	1	0	0	0	7931	971	34	2	1299	2	ITGAM	16	31289327	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86991	31289327	59065426	15713	17859											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	529					2.75727e-19	3.0731e-19	1	1	0	T	31382482	G	T	31382482	3	4	22	1	0	0	0	0	1	0	0	0	7933	991	35	2	1846	2	ITGAX	16	31382482	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93155	31382482	58972271	15714	17860											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	292					0	0	1	0	0	A	31422117	G	A	31422117	3	1	22	1	0	0	0	0	1	0	0	0	7928	1087	38	1	1320	1	ITGAD	16	31422117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39635	31422117	58932636	15715	17861											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000412665.2_Missense_Mutation_p.G570W|ARMC5_ENST00000563544.1_Missense_Mutation_p.G926W|ARMC5_ENST00000268314.4_Missense_Mutation_p.G926W|ARMC5_ENST00000538189.1_Missense_Mutation_p.G958W|ARMC5_ENST00000457010.2_3'UTR			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													7	104					0.00198382	0.00200138	1	1	0	T	31478178	G	T	31478178	3	4	22	1	0	0	0	0	1	0	0	0	953	1232	43	2	3112	2	ARMC5	16	31478178	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56061	31478178	58876575	15716	17862											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													160	756					1.21316e-79	1.55083e-79	1	1	0	T	31499495	G	T	31499495	5	4	22	1	0	0	0	0	0	0	1	0	14720	1275	44	2	1052	2	SLC5A2	16	31499495	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21317	31499495	58855258	15717	17863											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SLC5A2_ENST00000564197.1_Intron|C16orf58_ENST00000570164.1_3'UTR|C16orf58_ENST00000567994.1_3'UTR|C16orf58_ENST00000327237.2_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													39	112					0	0	1	0	0	A	31501753	G	A	31501753	3	1	22	1	0	0	0	0	1	0	0	0	14720	1116	39	1	1970	1	SLC5A2	16	31501753	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2258	31501753	58853000	15718	17864											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	411					0	0	1	0	0	A	31539464	G	A	31539464	3	1	22	1	0	0	0	0	1	0	0	0	418	1203	42	2	6	2	AHSP	16	31539464	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37711	31539464	58815289	15719	17865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	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													100	356					0	0	1	0	0	G	31925867	A	G	31925867	3	3	22	1	0	0	0	0	1	0	0	0	17864	439	16	3	311	3	ZNF267	16	31925867	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	386403	31925867	58428886	15720	17866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	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													108	364					0	0	1	0	0	A	31926727	G	A	31926727	3	1	22	1	0	0	0	0	1	0	0	0	17864	971	34	2	1171	2	ZNF267	16	31926727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	860	31926727	58428026	15721	17867											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	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													40	230					9.39024e-22	1.05953e-21	1	1	0	T	31927189	G	T	31927189	3	4	22	1	0	0	0	0	1	0	0	0	17864	942	33	2	1633	2	ZNF267	16	31927189	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	462	31927189	58427564	15722	17868											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	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													35	248					0	0	1	0	0	C	31927755	T	C	31927755	3	2	22	1	0	0	0	0	1	0	0	0	17864	1667	58	3	2199	3	ZNF267	16	31927755	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	566	31927755	58426998	15723	17869											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_079021.3	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													49	386					0	0	1	0	0	T	46629512	C	T	46629512	2	4	22	1	0	0	0	0	0	0	0	1	14329	842	30	2		2	SHCBP1	16	46629512	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14701757	46629512	43725241	15724	17870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:46843515C>T	ENST00000285697.4	-	3	607	c.346_splice	c.e3+1	p.E116_splice	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													86	847					0	0	1	0	0	T	46843515	C	T	46843515	5	4	22	1	0	0	0	0	0	0	1	0	1847	695	24	2	126	2	C16orf87	16	46843515	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	214003	46843515	43511238	15725	17871											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	99					6.33695e-27	7.31871e-27	1	1	0	T	46918680	G	T	46918680	3	4	22	1	0	0	0	0	1	0	0	0	6779	971	34	2	55	2	GPT2	16	46918680	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75165	46918680	43436073	15726	17872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													130	544					0	0	1	0	0	A	47001552	G	A	47001552	2	1	22	1	0	0	0	0	0	0	0	1	4639	1074	38	1		1	DNAJA2	16	47001552	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82872	47001552	43353201	15727	17873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_Nonsense_Mutation_p.R416*	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													98	442					0	0	1	0	0	A	47195737	G	A	47195737	4	1	22	1	0	0	0	0	0	1	0	0	7913	1153	40	1	265	1	ITFG1	16	47195737	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194185	47195737	43159016	15728	17874											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000566044.1_Missense_Mutation_p.F298S|PHKB_ENST00000323584.5_Missense_Mutation_p.F305S|PHKB_ENST00000299167.8_Missense_Mutation_p.F305S			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													23	368					0	0	1	0	0	C	47622859	T	C	47622859	3	2	22	1	0	0	0	0	1	0	0	0	11893	1841	64	3	1011	3	PHKB	16	47622859	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	427122	47622859	42731894	15729	17875											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000566044.1_Missense_Mutation_p.N826S|PHKB_ENST00000323584.5_Missense_Mutation_p.N833S|PHKB_ENST00000299167.8_Missense_Mutation_p.N833S			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													86	388					0	0	1	0	0	G	47703196	A	G	47703196	3	3	22	1	0	0	0	0	1	0	0	0	11893	43	2	3	2754	3	PHKB	16	47703196	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	80337	47703196	42651557	15730	17876											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000566044.1_Silent_p.I923I|PHKB_ENST00000323584.5_Silent_p.I930I|PHKB_ENST00000299167.8_Silent_p.I930I			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													35	163					0	0	1	0	0	T	47727313	C	T	47727313	2	4	22	1	0	0	0	0	0	0	0	1	11893	874	31	1		1	PHKB	16	47727313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24117	47727313	42627440	15731	17877											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000566044.1_Silent_p.I991I|PHKB_ENST00000323584.5_Silent_p.I998I|PHKB_ENST00000299167.8_Silent_p.I998I			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													41	225					0	0	1	0	0	T	47730390	C	T	47730390	2	4	22	1	0	0	0	0	0	0	0	1	11893	874	31	1		1	PHKB	16	47730390	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3077	47730390	42624363	15732	17878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48125031C>T	ENST00000311303.3	-	23	3630	c.3285_splice	c.e23+1	p.S1095_splice	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													36	950					0	0	1	0	0	T	48125031	C	T	48125031	5	4	22	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	15733	17879											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	611					0	0	1	0	0	T	48138236	C	T	48138236	3	4	22	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	15734	17880											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	649					0	0	1	0	0	T	48149406	C	T	48149406	3	4	22	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	15735	17881											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356608.2_Missense_Mutation_p.A950T|ABCC11_ENST00000353782.5_Missense_Mutation_p.A950T|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000394748.1_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													43	263					0	0	1	0	0	T	48221197	C	T	48221197	3	4	22	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	15736	17882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	345					0	0	1	0	0	G	48290601	A	G	48290601	2	3	22	1	0	0	0	0	0	0	0	1	8938	388	14	3		3	LONP2	16	48290601	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69404	48290601	42064152	15737	17883											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	381					0	0	1	0	0	A	48381426	G	A	48381426	2	1	22	1	0	0	0	0	0	0	0	1	8938	962	34	2		2	LONP2	16	48381426	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90825	48381426	41973327	15738	17884											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535754.1_Missense_Mutation_p.R715Q|LONP2_ENST00000564259.1_3'UTR	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													139	651					0	0	1	0	0	A	48382140	G	A	48382140	3	1	22	1	0	0	0	0	1	0	0	0	8938	1116	39	1	2330	1	LONP2	16	48382140	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	714	48382140	41972613	15739	17885											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535754.1_Missense_Mutation_p.A745V|LONP2_ENST00000564259.1_3'UTR	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													56	222					0	0	1	0	0	T	48385520	C	T	48385520	3	4	22	1	0	0	0	0	1	0	0	0	8938	768	27	1	2424	1	LONP2	16	48385520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3380	48385520	41969233	15740	17886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	92					0	0	1	0	0	A	48587468	G	A	48587468	3	1	22	1	0	0	0	0	1	0	0	0	10157	1087	38	1	708	1	N4BP1	16	48587468	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201948	48587468	41767285	15741	17887											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	469					0	0	1	0	0	A	49407930	G	A	49407930	3	1	22	1	0	0	0	0	1	0	0	0	1842	1087	38	1	82	1	C16orf78	16	49407930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	820462	49407930	40946823	15742	17888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	288					0	0	1	0	0	A	49433071	G	A	49433071	3	1	22	1	0	0	0	0	1	0	0	0	1842	1116	39	1	698	1	C16orf78	16	49433071	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25141	49433071	40921682	15743	17889											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000562871.1_Missense_Mutation_p.G1193R|ZNF423_ENST00000562520.1_Missense_Mutation_p.G1193R|ZNF423_ENST00000563137.2_Missense_Mutation_p.G1193R|ZNF423_ENST00000262383.2_Missense_Mutation_p.G1253R|ZNF423_ENST00000567169.1_Missense_Mutation_p.G1136R|ZNF423_ENST00000535559.1_Missense_Mutation_p.G1136R	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													10	260					0	0	1	0	0	T	49557603	C	T	49557603	3	4	22	1	0	0	0	0	1	0	0	0	17955	652	23	1	105	1	ZNF423	16	49557603	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124532	49557603	40797150	15744	17890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000562871.1_Missense_Mutation_p.A1040T|ZNF423_ENST00000562520.1_Missense_Mutation_p.A1040T|ZNF423_ENST00000563137.2_Missense_Mutation_p.A1040T|ZNF423_ENST00000262383.2_Missense_Mutation_p.A1100T|ZNF423_ENST00000567169.1_Missense_Mutation_p.A983T|ZNF423_ENST00000535559.1_Missense_Mutation_p.A983T	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													41	194					0	0	1	0	0	T	49669765	C	T	49669765	3	4	22	1	0	0	0	0	1	0	0	0	17955	768	27	1	576	1	ZNF423	16	49669765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112162	49669765	40684988	15745	17891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000562871.1_Missense_Mutation_p.R931H|ZNF423_ENST00000562520.1_Missense_Mutation_p.R931H|ZNF423_ENST00000563137.2_Missense_Mutation_p.R931H|ZNF423_ENST00000262383.2_Missense_Mutation_p.R991H|ZNF423_ENST00000567169.1_Missense_Mutation_p.R874H|ZNF423_ENST00000535559.1_Missense_Mutation_p.R874H	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													40	177					0	0	1	0	0	T	49670091	C	T	49670091	3	4	22	1	0	0	0	0	1	0	0	0	17955	768	27	1	902	1	ZNF423	16	49670091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	326	49670091	40684662	15746	17892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													157	636					1.57643e-78	2.01367e-78	1	1	0	T	50102776	G	T	50102776	4	4	22	1	0	0	0	0	0	1	0	0	7070	943	33	2	407	2	HEATR3	16	50102776	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	432685	50102776	40251977	15747	17893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	238					0	0	1	0	0	T	50104168	C	T	50104168	3	4	22	1	0	0	0	0	1	0	0	0	7070	739	26	2	493	2	HEATR3	16	50104168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1392	50104168	40250585	15748	17894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	291					0	0	1	0	0	G	50106618	T	G	50106618	3	3	22	1	0	0	0	0	1	0	0	0	7070	1829	64	3	633	3	HEATR3	16	50106618	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2450	50106618	40248135	15749	17895											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-429P3.5_ENST00000566770.1_RNA|HEATR3_ENST00000285767.4_Missense_Mutation_p.N562K	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													30	358					1.26612e-14	1.37737e-14	1	1	0	A	50138873	C	A	50138873	3	1	22	1	0	0	0	0	1	0	0	0	7070	564	20	2	2002	2	HEATR3	16	50138873	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32255	50138873	40215880	15750	17896											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537579.1_Intron|ADCY7_ENST00000538642.1_Missense_Mutation_p.V506M|ADCY7_ENST00000566433.2_Missense_Mutation_p.V506M|ADCY7_ENST00000254235.3_Missense_Mutation_p.V506M			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													84	410					0	0	1	0	0	A	50338418	G	A	50338418	3	1	22	1	0	0	0	0	1	0	0	0	298	1145	40	1	1554	1	ADCY7	16	50338418	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	199545	50338418	40016335	15751	17897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	241					0	0	1	0	0	A	50348221	G	A	50348221	3	1	22	1	0	0	0	0	1	0	0	0	298	1319	46	2	2965	2	ADCY7	16	50348221	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9803	50348221	40006532	15752	17898											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	BRD7_ENST00000394689.2_Silent_p.G2G|BRD7_ENST00000401491.3_5'UTR|RP11-21B23.1_ENST00000568427.1_RNA			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													51	203					0	0	1	0	0	A	50402680	G	A	50402680	2	1	22	1	0	0	0	0	0	0	0	1	1507	1306	46	2		2	BRD7	16	50402680	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54459	50402680	39952073	15753	17899											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	80					0	0	1	0	0	A	50583467	G	A	50583467	5	1	22	1	0	0	0	0	0	0	1	0	10488	1275	44	2	203	2	NKD1	16	50583467	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180787	50583467	39771286	15754	17900											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	528					0	0	1	0	0	A	50667286	G	A	50667286	3	1	22	1	0	0	0	0	1	0	0	0	10488	1116	39	1	1045	1	NKD1	16	50667286	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83819	50667286	39687467	15755	17901											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	382					0	0	1	0	0	C	50733613	T	C	50733613	2	2	22	1	0	0	0	0	0	0	0	1	10564	1625	57	3		3	NOD2	16	50733613	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	66327	50733613	39621140	15756	17902											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	590					0	0	1	0	0	A	50745198	G	A	50745198	3	1	22	1	0	0	0	0	1	0	0	0	10564	1087	38	1	1390	1	NOD2	16	50745198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11585	50745198	39609555	15757	17903											
NOD2	64127	broad.mit.edu	37	chr16	50745331	50745331	+	Frame_Shift_Del	DEL	G	G	-													caggaactgttgctgcaggaGggggggtccccaaagaccac					rs104895434		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50745331delG	ENST00000300589.2	+	4	1614	c.1509delG	c.(1507-1509)gafs	p.E503fs		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	503	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)				TGCTGCAGGAGGGGGGGTCCC	0.577													9	698	---	---	---	---						-	50745331	G	-	50745331	7	5	22	1	0	1	0	1	0	0	0	0	10564	991	35	0	1523	0	NOD2	16	50745331	Frame_Shift_Del	DEL	G	TCGA-IB-7651-01A-11D-2154-08	133	50745331	39609422	15758	17904											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	188					0	0	1	0	0	A	50745492	G	A	50745492	3	1	22	1	0	0	0	0	1	0	0	0	10564	1203	42	2	1684	2	NOD2	16	50745492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	50745492	39609261	15759	17905											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	305					0	0	1	0	0	A	50746021	G	A	50746021	2	1	22	1	0	0	0	0	0	0	0	1	10564	1306	46	2		2	NOD2	16	50746021	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	529	50746021	39608732	15760	17906											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50815323G>T	ENST00000540145.1	+	10	2099		c.e10+1		CYLD_ENST00000568704.2_Intron|CYLD_ENST00000427738.3_Splice_Site|CYLD_ENST00000569418.1_Splice_Site|CYLD_ENST00000311559.9_Splice_Site|CYLD_ENST00000566206.1_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				45	227					4.14194e-30	4.85262e-30	1	1	0	T	50815323	G	T	50815323	5	4	22	1	0	0	0	0	0	0	1	0	4166	1275	44	2	1715	2	CYLD	16	50815323	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69302	50815323	39539430	15761	17907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000251020.4_Silent_p.A421A|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	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													101	492					2.14978e-47	2.64632e-47	1	1	0	T	51174870	G	T	51174870	2	4	22	1	0	0	0	0	0	0	0	1	13862	987	35	2		2	SALL1	16	51174870	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	359547	51174870	39179883	15762	17908											
SALL1	6299	broad.mit.edu	37	chr16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-													gaggagctgccgccgccgccGctgctgctgctgctgctgct					rs13336129	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:51175656_51175658delGCT	ENST00000440970.1	-	2	615_617	c.184_186delAGC	c.(184-186)del	p.S62del	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159					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	p.S159G(1)		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)			cgccgccgccgctgctgctgctg	0.631													9	346	---	---	---	---						-	51175658	GCT	-	51175656	7	5	22	1	0	1	0	1	0	0	0	0	13862	1078	38	0	3505	0	SALL1	16	51175656	In_Frame_Del	DEL	GCT	TCGA-IB-7651-01A-11D-2154-08	786	51175656	39179097	15763	17909											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	289					0	0	1	0	0	T	52473589	C	T	52473589	3	4	22	1	0	0	0	0	1	0	0	0	16440	797	28	2	455	2	TOX3	16	52473589	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1297933	52473589	37881164	15764	17910											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000564845.1_Missense_Mutation_p.A163T|CHD9_ENST00000447540.1_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													22	448					0	0	1	0	0	A	53190488	G	A	53190488	3	1	22	1	0	0	0	0	1	0	0	0	3354	1319	46	2	489	2	CHD9	16	53190488	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	716899	53190488	37164265	15765	17911											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000564845.1_Silent_p.G347G|CHD9_ENST00000447540.1_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													18	81					0	0	1	0	0	C	53191042	T	C	53191042	2	2	22	1	0	0	0	0	0	0	0	1	3354	1625	57	3		3	CHD9	16	53191042	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	554	53191042	37163711	15766	17912											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000564845.1_Missense_Mutation_p.V1303I|CHD9_ENST00000447540.1_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													128	632					0	0	1	0	0	A	53288395	G	A	53288395	3	1	22	1	0	0	0	0	1	0	0	0	3354	1029	36	2	3973	2	CHD9	16	53288395	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97353	53288395	37066358	15767	17913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000564845.1_Missense_Mutation_p.Y1774C|CHD9_ENST00000447540.1_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													12	355					0	0	1	0	0	G	53326775	A	G	53326775	3	3	22	1	0	0	0	0	1	0	0	0	3354	449	16	3	5431	3	CHD9	16	53326775	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	38380	53326775	37027978	15768	17914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000564845.1_Missense_Mutation_p.S2063Y|CHD9_ENST00000447540.1_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													11	64					0.000673444	0.000681208	1	1	0	A	53338106	C	A	53338106	3	1	22	1	0	0	0	0	1	0	0	0	3354	913	32	2	6306	2	CHD9	16	53338106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11331	53338106	37016647	15769	17915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	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													72	381					6.06247e-24	6.9123e-24	1	1	0	A	53514557	C	A	53514557	3	1	22	1	0	0	0	0	1	0	0	0	13162	681	24	2	3038	2	RBL2	16	53514557	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176451	53514557	36840196	15770	17916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Splice_Site	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													35	145					0	0	1	0	0	A	53515625	G	A	53515625	3	1	22	1	0	0	0	0	1	0	0	0	13162	1000	35	2	3209	2	RBL2	16	53515625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1068	53515625	36839128	15771	17917											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53529183A>G	ENST00000300245.4	-	5	521	c.304T>C	c.(304-306)Tct>Cct	p.S102P	AKTIP_ENST00000570004.1_Missense_Mutation_p.S102P|AKTIP_ENST00000394657.6_Missense_Mutation_p.S102P			Q9H8T0	AKTIP_HUMAN	AKT interacting protein	102					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													30	281					0	0	1	0	0	G	53529183	A	G	53529183	3	3	22	1	0	0	0	0	1	0	0	0	479	304	11	3	602	3	AKTIP	16	53529183	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13558	53529183	36825570	15772	17918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53532472C>T	ENST00000300245.4	-	4	296	c.79G>A	c.(79-81)Gtg>Atg	p.V27M	AKTIP_ENST00000570004.1_Missense_Mutation_p.V27M|AKTIP_ENST00000394657.6_Missense_Mutation_p.V27M			Q9H8T0	AKTIP_HUMAN	AKT interacting protein	27					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													82	369					0	0	1	0	0	T	53532472	C	T	53532472	3	4	22	1	0	0	0	0	1	0	0	0	479	536	19	1	831	1	AKTIP	16	53532472	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3289	53532472	36822281	15773	17919											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379925.3_Nonsense_Mutation_p.R649*|RPGRIP1L_ENST00000563746.1_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													74	280					0	0	1	0	0	A	53686654	G	A	53686654	4	1	22	1	0	0	0	0	0	1	0	0	13602	1095	38	1	2054	1	RPGRIP1L	16	53686654	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154182	53686654	36668099	15774	17920											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431610.2_Missense_Mutation_p.R74W|FTO_ENST00000472835.1_3'UTR|FTO_ENST00000463855.1_Missense_Mutation_p.R95W|FTO_ENST00000460382.1_Missense_Mutation_p.R74W|FTO_ENST00000394647.3_Missense_Mutation_p.R177W	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													47	1226					0	0	1	0	0	T	54145726	C	T	54145726	3	4	22	1	0	0	0	0	1	0	0	0	6121	875	31	1	1451	1	FTO	16	54145726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	459072	54145726	36209027	15775	17921											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	144					0	0	1	0	0	T	54317630	C	T	54317630	3	4	22	1	0	0	0	0	1	0	0	0	7889	768	27	1	35	1	IRX3	16	54317630	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171904	54317630	36037123	15776	17922											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000560154.1_Silent_p.P162P|IRX5_ENST00000320990.5_Silent_p.P381P|IRX5_ENST00000558597.1_Silent_p.P316P			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													26	108					0	0	1	0	0	A	54967479	G	A	54967479	2	1	22	1	0	0	0	0	0	0	0	1	7891	1132	40	1		1	IRX5	16	54967479	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	649849	54967479	35387274	15777	17923											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	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													51	203					0	0	1	0	0	G	55361564	A	G	55361564	2	3	22	1	0	0	0	0	0	0	0	1	7892	146	6	3		3	IRX6	16	55361564	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	394085	55361564	34993189	15778	17924											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	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													65	256					0	0	1	0	0	A	55361590	G	A	55361590	3	1	22	1	0	0	0	0	1	0	0	0	7892	1087	38	1	520	1	IRX6	16	55361590	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26	55361590	34993163	15779	17925											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437642.2_Missense_Mutation_p.R65H|MMP2_ENST00000543485.1_Missense_Mutation_p.R39H|MMP2_ENST00000570308.1_Missense_Mutation_p.R39H	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													82	306					0	0	1	0	0	A	55517011	G	A	55517011	3	1	22	1	0	0	0	0	1	0	0	0	9706	1087	38	1	357	1	MMP2	16	55517011	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155421	55517011	34837742	15780	17926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437642.2_Missense_Mutation_p.R318H|MMP2_ENST00000543485.1_Missense_Mutation_p.R292H|MMP2_ENST00000570308.1_Missense_Mutation_p.R292H	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													118	451					0	0	1	0	0	A	55523659	G	A	55523659	3	1	22	1	0	0	0	0	1	0	0	0	9706	1087	38	1	1136	1	MMP2	16	55523659	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6648	55523659	34831094	15781	17927											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	836					0	0	1	0	0	G	55601237	A	G	55601237	3	3	22	1	0	0	0	0	1	0	0	0	2652	391	14	3	571	3	CAPNS2	16	55601237	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	77578	55601237	34753516	15782	17928											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000414754.3_Missense_Mutation_p.Y205H|SLC6A2_ENST00000219833.8_Missense_Mutation_p.Y205H|SLC6A2_ENST00000561820.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000568943.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000567238.1_Missense_Mutation_p.Y100H|SLC6A2_ENST00000566163.1_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													50	237					0	0	1	0	0	C	55706056	T	C	55706056	3	2	22	1	0	0	0	0	1	0	0	0	14738	1638	57	3	714	3	SLC6A2	16	55706056	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	104819	55706056	34648697	15783	17929											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360526.3_Missense_Mutation_p.A393D|CES1_ENST00000361503.4_Missense_Mutation_p.A392D			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													19	844					1.01871e-10	1.082e-10	1	1	0	T	55844569	G	T	55844569	3	4	22	1	0	0	0	0	1	0	0	0	3291	971	34	2	544	2	CES1	16	55844569	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138513	55844569	34510184	15784	17930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	199					0	0	1	0	0	A	56385326	G	A	56385326	3	1	22	1	0	0	0	0	1	0	0	0	6550	1058	37	1	1130	1	GNAO1	16	56385326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	540757	56385326	33969427	15785	17931											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	293					0	0	1	0	0	T	56437031	C	T	56437031	5	4	22	1	0	0	0	0	0	0	1	0	567	579	20	2	1123	2	AMFR	16	56437031	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51705	56437031	33917722	15786	17932											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_114091.3	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				113	410					0	0	1	0	0	T	56519606	C	T	56519606	3	4	22	1	0	0	0	0	1	0	0	0	1336	913	32	2	218	2	BBS2	16	56519606	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82575	56519606	33835147	15787	17933											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_114091.3	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				58	251					0	0	1	0	0	A	56548368	T	A	56548368	3	1	22	1	0	0	0	0	1	0	0	0	1336	1548	54	5	1887	5	BBS2	16	56548368	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28762	56548368	33806385	15788	17934											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	480					0	0	1	0	0	T	56666669	C	T	56666669	3	4	22	1	0	0	0	0	1	0	0	0	9951	565	20	2	28	2	MT1M	16	56666669	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118301	56666669	33688084	15789	17935											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													153	849					3.41882e-60	4.29776e-60	1	1	0	A	56667670	C	A	56667670	4	1	22	1	0	0	0	0	0	1	0	0	9951	805	28	2	112	2	MT1M	16	56667670	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1001	56667670	33687083	15790	17936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56704811C>A	ENST00000332374.4	+	3	167	c.94_splice	c.e3-1	p.S32_splice	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													40	502					4.32679e-17	4.76816e-17	1	1	0	A	56704811	C	A	56704811	5	1	22	1	0	0	0	0	0	0	1	0	9950	811	28	2	106	2	MT1H	16	56704811	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37141	56704811	33649942	15791	17937											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000308159.5_Missense_Mutation_p.G507E|NUP93_ENST00000569842.1_Missense_Mutation_p.G507E|NUP93_ENST00000542526.1_Missense_Mutation_p.G384E	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													52	199					0	0	1	0	0	A	56867301	G	A	56867301	3	1	22	1	0	0	0	0	1	0	0	0	10820	1174	41	2	1566	2	NUP93	16	56867301	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	162490	56867301	33487452	15792	17938											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56906698G>T	ENST00000438926.2	+	8	1124	c.1095_splice	c.e8+1	p.K365_splice	SLC12A3_ENST00000566786.1_Splice_Site_p.K364_splice|SLC12A3_ENST00000563236.1_Splice_Site_p.K365_splice|SLC12A3_ENST00000262502.5_Splice_Site_p.K364_splice	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	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													57	252					1.69475e-38	2.04315e-38	1	1	0	T	56906698	G	T	56906698	5	4	22	1	0	0	0	0	0	0	1	0	14439	1014	35	2	1125	2	SLC12A3	16	56906698	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39397	56906698	33448055	15793	17939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000566786.1_Missense_Mutation_p.D816Y|SLC12A3_ENST00000563236.1_Missense_Mutation_p.D808Y|SLC12A3_ENST00000262502.5_Missense_Mutation_p.D807Y	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	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													31	145					1.30897e-18	1.45408e-18	1	1	0	T	56926867	G	T	56926867	3	4	22	1	0	0	0	0	1	0	0	0	14439	1174	41	2	2531	2	SLC12A3	16	56926867	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20169	56926867	33427886	15794	17940											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000570273.1_3'UTR|HERPUD1_ENST00000344114.4_Silent_p.I230I|HERPUD1_ENST00000379792.2_Silent_p.I364I|HERPUD1_ENST00000300302.5_Silent_p.I388I	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								200	915					0	0	1	0	0	T	56977193	C	T	56977193	2	4	22	1	0	0	0	0	0	0	0	1	7104	874	31	1		1	HERPUD1	16	56977193	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50326	56977193	33377560	15795	17941											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000308149.7_Missense_Mutation_p.R574H|NLRC5_ENST00000539144.1_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													39	401					0	0	1	0	0	A	57060576	G	A	57060576	3	1	22	1	0	0	0	0	1	0	0	0	10517	1087	38	1	1735	1	NLRC5	16	57060576	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83383	57060576	33294177	15796	17942											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000308149.7_Missense_Mutation_p.A859V|NLRC5_ENST00000539144.1_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													18	128					0	0	1	0	0	T	57068112	C	T	57068112	3	4	22	1	0	0	0	0	1	0	0	0	10517	768	27	1	2618	1	NLRC5	16	57068112	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7536	57068112	33286641	15797	17943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000308149.7_Missense_Mutation_p.L1052S|NLRC5_ENST00000539144.1_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													278	1174					0	0	1	0	0	C	57077468	T	C	57077468	3	2	22	1	0	0	0	0	1	0	0	0	10517	1821	63	3	3225	3	NLRC5	16	57077468	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9356	57077468	33277285	15798	17944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000308149.7_Silent_p.G1227G|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000539144.1_Silent_p.G1227G|NLRC5_ENST00000262510.6_Silent_p.G1256G			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													17	62					0	0	1	0	0	T	57091998	C	T	57091998	2	4	22	1	0	0	0	0	0	0	0	1	10517	755	27	1		1	NLRC5	16	57091998	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14530	57091998	33262755	15799	17945											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Silent_p.G1641G|NLRC5_ENST00000539144.1_Silent_p.G1641G	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													8	243					0	0	1	0	0	T	57111861	C	T	57111861	2	4	22	1	0	0	0	0	0	0	0	1	10517	784	28	2		2	NLRC5	16	57111861	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19863	57111861	33242892	15800	17946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812T|NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812T	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													82	443					0	0	1	0	0	A	57116360	G	A	57116360	3	1	22	1	0	0	0	0	1	0	0	0	10517	1203	42	2	5707	2	NLRC5	16	57116360	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4499	57116360	33238393	15801	17947											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57149461C>T	ENST00000535318.2	+	5	795	c.435_splice	c.e5+1	p.T145_splice	CPNE2_ENST00000565874.1_Splice_Site_p.T145_splice|CPNE2_ENST00000537605.1_Splice_Site_p.T43_splice|CPNE2_ENST00000290776.8_Splice_Site_p.T145_splice			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													59	223					0	0	1	0	0	T	57149461	C	T	57149461	5	4	22	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	15802	17948											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000567439.1_Silent_p.L251L|FAM192A_ENST00000564108.1_Silent_p.L251L|FAM192A_ENST00000569266.1_Silent_p.L251L|FAM192A_ENST00000389447.5_Silent_p.L251L|FAM192A_ENST00000566077.1_Silent_p.L174L	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													29	160					0	0	1	0	0	A	57188214	G	A	57188214	2	1	22	1	0	0	0	0	0	0	0	1	5555	1045	37	1		1	FAM192A	16	57188214	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38753	57188214	33166539	15803	17949											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	232					0	0	1	0	0	G	57272872	T	G	57272872	3	3	22	1	0	0	0	0	1	0	0	0	13765	1829	64	3	1770	3	RSPRY1	16	57272872	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	84658	57272872	33081881	15804	17950											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	331					0	0	1	0	0	T	57416775	C	T	57416775	3	4	22	1	0	0	0	0	1	0	0	0	4097	768	27	1	1035	1	CX3CL1	16	57416775	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143903	57416775	32937978	15805	17951											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000568940.1_3'UTR|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S294I|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.S241I|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													39	170					7.04047e-22	7.94894e-22	1	1	0	A	57463101	C	A	57463101	3	1	22	1	0	0	0	0	1	0	0	0	3441	797	28	2	22	2	CIAPIN1	16	57463101	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46326	57463101	32891652	15806	17952											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57490417C>T	ENST00000262507.6	+	4	449	c.378_splice	c.e4-1	p.S127_splice	COQ9_ENST00000567072.1_Splice_Site_p.S127_splice|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													87	374					0	0	1	0	0	T	57490417	C	T	57490417	5	4	22	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	15807	17953											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340099.4_Missense_Mutation_p.N304T|DOK4_ENST00000569548.1_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													43	184					0	0	1	0	0	G	57507359	T	G	57507359	3	3	22	1	0	0	0	0	1	0	0	0	4726	1725	60	3	73	3	DOK4	16	57507359	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16942	57507359	32847394	15808	17954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000561918.1_5'UTR|DOK4_ENST00000340099.4_Missense_Mutation_p.I62S|DOK4_ENST00000569548.1_Missense_Mutation_p.I62S			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													17	58					0	0	1	0	0	C	57509522	A	C	57509522	3	2	22	1	0	0	0	0	1	0	0	0	4726	333	12	3	819	3	DOK4	16	57509522	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2163	57509522	32845231	15809	17955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	214					0	0	1	0	0	T	57550216	C	T	57550216	3	4	22	1	0	0	0	0	1	0	0	0	2754	739	26	2	256	2	CCDC102A	16	57550216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40694	57550216	32804537	15810	17956											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000388813.5_Silent_p.V312V|GPR56_ENST00000567835.1_Silent_p.V312V|GPR56_ENST00000456916.1_Silent_p.V312V|GPR56_ENST00000379694.4_Silent_p.V142V|GPR56_ENST00000379696.3_Silent_p.V312V|GPR56_ENST00000544297.1_Silent_p.V137V|GPR56_ENST00000538815.1_Silent_p.V312V|GPR56_ENST00000562558.1_Silent_p.V312V|GPR56_ENST00000540164.2_Silent_p.V312V|GPR56_ENST00000388812.4_Silent_p.V312V|GPR56_ENST00000568908.1_Silent_p.V312V|GPR56_ENST00000568909.1_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													144	679					0	0	1	0	0	T	57689823	C	T	57689823	2	4	22	1	0	0	0	0	0	0	0	1	6740	900	32	2		2	GPR56	16	57689823	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139607	57689823	32664930	15811	17957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000388813.5_Missense_Mutation_p.T463A|GPR56_ENST00000567835.1_Missense_Mutation_p.T469A|GPR56_ENST00000456916.1_Missense_Mutation_p.T469A|GPR56_ENST00000379694.4_Missense_Mutation_p.T299A|GPR56_ENST00000379696.3_Missense_Mutation_p.T469A|GPR56_ENST00000544297.1_Missense_Mutation_p.T288A|GPR56_ENST00000538815.1_Missense_Mutation_p.T463A|GPR56_ENST00000562558.1_Missense_Mutation_p.T463A|GPR56_ENST00000540164.2_Missense_Mutation_p.T463A|GPR56_ENST00000388812.4_Missense_Mutation_p.T469A|GPR56_ENST00000568908.1_Missense_Mutation_p.T463A|GPR56_ENST00000568909.1_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													79	336					0	0	1	0	0	G	57693425	A	G	57693425	3	3	22	1	0	0	0	0	1	0	0	0	6740	275	10	3	1458	3	GPR56	16	57693425	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3602	57693425	32661328	15812	17958											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	227					3.54909e-21	3.99219e-21	1	1	0	A	57732027	C	A	57732027	3	1	22	1	0	0	0	0	1	0	0	0	2787	796	28	2	168	2	CCDC135	16	57732027	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38602	57732027	32622726	15813	17959											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	271					0	0	1	0	0	T	57762411	C	T	57762411	3	4	22	1	0	0	0	0	1	0	0	0	2787	768	27	1	2364	1	CCDC135	16	57762411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30384	57762411	32592342	15814	17960											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	488					0	0	1	0	0	G	57789369	A	G	57789369	3	3	22	1	0	0	0	0	1	0	0	0	8031	275	10	3	1587	3	KATNB1	16	57789369	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26958	57789369	32565384	15815	17961											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000445690.2_3'UTR|KIFC3_ENST00000562903.1_3'UTR|KIFC3_ENST00000540079.2_3'UTR|KIFC3_ENST00000541240.1_3'UTR|KIFC3_ENST00000421376.2_3'UTR|KIFC3_ENST00000465878.2_3'UTR|KIFC3_ENST00000539578.1_3'UTR|KIFC3_ENST00000543930.1_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													43	241					0	0	1	0	0	A	57792813	G	A	57792813	3	1	22	1	0	0	0	0	1	0	0	0	8356	1086	38	1	20	1	KIFC3	16	57792813	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3444	57792813	32561940	15816	17962											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000445690.2_Silent_p.S746S|KIFC3_ENST00000562903.1_Silent_p.S607S|KIFC3_ENST00000540079.2_Silent_p.S644S|KIFC3_ENST00000541240.1_Silent_p.S768S|KIFC3_ENST00000421376.2_Silent_p.S607S|KIFC3_ENST00000465878.2_Silent_p.S607S|KIFC3_ENST00000539578.1_Silent_p.S688S|KIFC3_ENST00000543930.1_Silent_p.S604S	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													56	330					2.73361e-28	3.17826e-28	1	1	0	T	57794323	G	T	57794323	2	4	22	1	0	0	0	0	0	0	0	1	8356	1219	43	2		2	KIFC3	16	57794323	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1510	57794323	32560430	15817	17963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000445690.2_Missense_Mutation_p.A526V|KIFC3_ENST00000562903.1_Missense_Mutation_p.A387V|KIFC3_ENST00000540079.2_Missense_Mutation_p.A424V|KIFC3_ENST00000541240.1_Missense_Mutation_p.A548V|KIFC3_ENST00000421376.2_Missense_Mutation_p.A387V|KIFC3_ENST00000465878.2_Missense_Mutation_p.A387V|KIFC3_ENST00000539578.1_Missense_Mutation_p.A468V|KIFC3_ENST00000543930.1_Missense_Mutation_p.A384V	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													42	244					0	0	1	0	0	A	57798095	G	A	57798095	3	1	22	1	0	0	0	0	1	0	0	0	8356	1087	38	1	965	1	KIFC3	16	57798095	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3772	57798095	32556658	15818	17964											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000445690.2_Missense_Mutation_p.R401M|KIFC3_ENST00000562903.1_Missense_Mutation_p.R262M|KIFC3_ENST00000540079.2_Missense_Mutation_p.R299M|KIFC3_ENST00000541240.1_Missense_Mutation_p.R423M|KIFC3_ENST00000421376.2_Missense_Mutation_p.R262M|KIFC3_ENST00000465878.2_Missense_Mutation_p.R262M|KIFC3_ENST00000539578.1_Missense_Mutation_p.R343M|KIFC3_ENST00000543930.1_Missense_Mutation_p.R262M	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													52	238					1.00798e-23	1.14783e-23	1	1	0	A	57803523	C	A	57803523	3	1	22	1	0	0	0	0	1	0	0	0	8356	681	24	2	1352	2	KIFC3	16	57803523	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5428	57803523	32551230	15819	17965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	245					1.19403e-26	1.3775e-26	1	1	0	A	57918346	C	A	57918346	3	1	22	1	0	0	0	0	1	0	0	0	3623	913	32	2	281	2	CNGB1	16	57918346	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114823	57918346	32436407	15820	17966											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	243					1.04352e-10	1.10821e-10	1	1	0	T	57957180	G	T	57957180	3	4	22	1	0	0	0	0	1	0	0	0	3623	1029	36	2	2179	2	CNGB1	16	57957180	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38834	57957180	32397573	15821	17967											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000564654.1_5'UTR|CNGB1_ENST00000251102.8_Missense_Mutation_p.V409G			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													60	269					0	0	1	0	0	C	57973480	A	C	57973480	3	2	22	1	0	0	0	0	1	0	0	0	3623	43	2	3	2601	3	CNGB1	16	57973480	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16300	57973480	32381273	15822	17968											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	219					0	0	1	0	0	A	57998403	G	A	57998403	3	1	22	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	15823	17969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													296	1113					5.34766e-72	6.80125e-72	1	1	0	T	58031620	G	T	58031620	3	4	22	1	0	0	0	0	1	0	0	0	17894	1174	41	2	1202	2	ZNF319	16	58031620	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33217	58031620	32323133	15824	17970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	100					0	0	1	0	0	C	58079010	T	C	58079010	3	2	22	1	0	0	0	0	1	0	0	0	9702	1464	51	3	1708	3	MMP15	16	58079010	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47390	58079010	32275743	15825	17971											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	45					0	0	1	0	0	T	58079274	C	T	58079274	3	4	22	1	0	0	0	0	1	0	0	0	9702	768	27	1	1972	1	MMP15	16	58079274	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	264	58079274	32275479	15826	17972											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	294					0	0	1	0	0	C	58292383	A	C	58292383	3	2	22	1	0	0	0	0	1	0	0	0	2768	159	6	3	516	3	CCDC113	16	58292383	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	213109	58292383	32062370	15827	17973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543437.1_Missense_Mutation_p.E105K|PRSS54_ENST00000563336.1_5'UTR|PRSS54_ENST00000567164.1_Missense_Mutation_p.E204K	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													94	385					0	0	1	0	0	T	58318538	C	T	58318538	3	4	22	1	0	0	0	0	1	0	0	0	12682	922	32	2	585	2	PRSS54	16	58318538	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26155	58318538	32036215	15828	17974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543437.1_Missense_Mutation_p.A39V|PRSS54_ENST00000567164.1_Missense_Mutation_p.A138V	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													56	644					0	0	1	0	0	A	58319950	G	A	58319950	3	1	22	1	0	0	0	0	1	0	0	0	12682	1087	38	1	786	1	PRSS54	16	58319950	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1412	58319950	32034803	15829	17975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	222					0	0	1	0	0	A	58438412	G	A	58438412	3	1	22	1	0	0	0	0	1	0	0	0	6431	1117	39	1	561	1	GINS3	16	58438412	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118462	58438412	31916341	15830	17976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58537860C>T	ENST00000563799.1	+	2	286	c.181_splice	c.e2+1	p.S60_splice	NDRG4_ENST00000570248.1_Intron|NDRG4_ENST00000569923.1_Intron|NDRG4_ENST00000356752.4_Intron|NDRG4_ENST00000562999.1_Intron|NDRG4_ENST00000566192.1_Intron|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000394279.2_Intron|NDRG4_ENST00000568640.1_Intron|NDRG4_ENST00000394282.4_Intron|NDRG4_ENST00000258187.5_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													33	154					0	0	1	0	0	T	58537860	C	T	58537860	5	4	22	1	0	0	0	0	0	0	1	0	10301	783	27	1		1	NDRG4	16	58537860	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99448	58537860	31816893	15831	17977											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000570248.1_Silent_p.S78S|NDRG4_ENST00000569923.1_Silent_p.S23S|NDRG4_ENST00000356752.4_Silent_p.S108S|NDRG4_ENST00000562999.1_Silent_p.S78S|NDRG4_ENST00000563799.1_Silent_p.S96S|NDRG4_ENST00000566192.1_Silent_p.S78S|NDRG4_ENST00000394279.2_Silent_p.S110S|NDRG4_ENST00000568640.1_Silent_p.S96S|NDRG4_ENST00000258187.5_Silent_p.S110S	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													127	617					0	0	1	0	0	A	58538164	G	A	58538164	2	1	22	1	0	0	0	0	0	0	0	1	10301	1074	38	1		1	NDRG4	16	58538164	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	304	58538164	31816589	15832	17978											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000570248.1_Silent_p.A331A|NDRG4_ENST00000569923.1_Silent_p.A263A|NDRG4_ENST00000356752.4_Silent_p.A348A|NDRG4_ENST00000562999.1_Silent_p.A306A|NDRG4_ENST00000563799.1_Silent_p.A336A|NDRG4_ENST00000566192.1_Silent_p.A318A|NDRG4_ENST00000394279.2_Silent_p.A350A|NDRG4_ENST00000568640.1_Silent_p.A336A|NDRG4_ENST00000258187.5_Silent_p.A350A	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													116	369					5.29757e-45	6.4907e-45	1	1	0	A	58545414	C	A	58545414	2	1	22	1	0	0	0	0	0	0	0	1	10301	668	24	2		2	NDRG4	16	58545414	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7250	58545414	31809339	15833	17979											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000219315.4_Silent_p.R208R|SETD6_ENST00000310682.2_Silent_p.R184R|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													50	221					2.27781e-18	2.52731e-18	1	1	0	A	58550529	C	A	58550529	2	1	22	1	0	0	0	0	0	0	0	1	14189	784	28	2		2	SETD6	16	58550529	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5115	58550529	31804224	15834	17980											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	217					0	0	1	0	0	T	58581543	C	T	58581543	3	4	22	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	15835	17981											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	281					0	0	1	0	0	T	58621318	C	T	58621318	5	4	22	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	15836	17982											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000564010.1_Silent_p.Y124Y|SLC38A7_ENST00000564100.1_Silent_p.Y213Y|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000219320.4_Silent_p.Y213Y			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													40	358					0	0	1	0	0	A	58711301	G	A	58711301	2	1	22	1	0	0	0	0	0	0	0	1	14664	1140	40	1		1	SLC38A7	16	58711301	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89983	58711301	31643452	15837	17983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000564010.1_Intron|SLC38A7_ENST00000564391.1_Silent_p.P29P|SLC38A7_ENST00000564100.1_Silent_p.P29P|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000219320.4_Silent_p.P29P			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													26	131					0	0	1	0	0	A	58713944	G	A	58713944	2	1	22	1	0	0	0	0	0	0	0	1	14664	987	35	2		2	SLC38A7	16	58713944	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2643	58713944	31640809	15838	17984											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	444					0	0	1	0	0	T	61687978	C	T	61687978	3	4	22	1	0	0	0	0	1	0	0	0	3138	652	23	1	469	1	CDH8	16	61687978	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2974034	61687978	28666775	15839	17985											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000584337.1_Missense_Mutation_p.D488G|CDH8_ENST00000577730.1_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													154	643					0	0	1	0	0	C	61761071	T	C	61761071	3	2	22	1	0	0	0	0	1	0	0	0	3138	1435	50	3	952	3	CDH8	16	61761071	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	73093	61761071	28593682	15840	17986											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000584337.1_Silent_p.N188N|CDH8_ENST00000577730.1_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													12	234					0	0	1	0	0	A	61891126	G	A	61891126	2	1	22	1	0	0	0	0	0	0	0	1	3138	1136	40	1		1	CDH8	16	61891126	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	130055	61891126	28463627	15841	17987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			26	623					2.79863e-10	2.965e-10	1	1	0	T	64981786	G	T	64981786	3	4	22	1	0	0	0	0	1	0	0	0	3119	1000	35	2	283	2	CDH11	16	64981786	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3090660	64981786	25372967	15842	17988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			28	195					0	0	1	0	0	T	65005935	C	T	65005935	3	4	22	1	0	0	0	0	1	0	0	0	3119	739	26	2	983	2	CDH11	16	65005935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24149	65005935	25348818	15843	17989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000569624.1_5'UTR|CDH11_ENST00000268603.4_Missense_Mutation_p.R27W			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)			11	55					0	0	1	0	0	A	65038694	G	A	65038694	3	1	22	1	0	0	0	0	1	0	0	0	3119	1086	38	1	2355	1	CDH11	16	65038694	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32759	65038694	25316059	15844	17990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	157					0	0	1	0	0	T	66420804	C	T	66420804	2	4	22	1	0	0	0	0	0	0	0	1	3135	535	19	1		1	CDH5	16	66420804	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1382110	66420804	23933949	15845	17991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	268					1.76847e-28	2.05822e-28	1	1	0	A	66429998	C	A	66429998	3	1	22	1	0	0	0	0	1	0	0	0	3135	912	32	2	1280	2	CDH5	16	66429998	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9194	66429998	23924755	15846	17992											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	436					0	0	1	0	0	G	66431887	A	G	66431887	3	3	22	1	0	0	0	0	1	0	0	0	3135	43	2	3	1393	3	CDH5	16	66431887	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1889	66431887	23922866	15847	17993											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	101					0	0	1	0	0	T	66436913	C	T	66436913	2	4	22	1	0	0	0	0	0	0	0	1	3135	784	28	2		2	CDH5	16	66436913	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5026	66436913	23917840	15848	17994											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379482.2_Missense_Mutation_p.A2S|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.A2S|DYNC1LI2_ENST00000440564.2_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													49	205					9.86064e-34	1.16979e-33	1	1	0	A	66785491	C	A	66785491	3	1	22	1	0	0	0	0	1	0	0	0	4871	739	26	2	1526	2	DYNC1LI2	16	66785491	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	348578	66785491	23569262	15849	17995											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	336					6.84511e-11	7.27868e-11	1	1	0	A	66956090	C	A	66956090	3	1	22	1	0	0	0	0	1	0	0	0	13723	912	32	2	114	2	RRAD	16	66956090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170599	66956090	23398663	15850	17996											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													368	1722					0	0	1	0	0	T	67006262	C	T	67006262	3	4	22	1	0	0	0	0	1	0	0	0	3293	913	32	2	1337	2	CES3	16	67006262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50172	67006262	23348491	15851	17997											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	304					0	0	1	0	0	A	67006910	G	A	67006910	4	1	22	1	0	0	0	0	0	1	0	0	3293	1212	42	2	1724	2	CES3	16	67006910	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	648	67006910	23347843	15852	17998											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	402					0	0	1	0	0	T	67154021	C	T	67154021	3	4	22	1	0	0	0	0	1	0	0	0	1836	681	24	2	77	2	C16orf70	16	67154021	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147111	67154021	23200732	15853	17999											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													277	1172					0	0	1	0	0	A	67168323	G	A	67168323	3	1	22	1	0	0	0	0	1	0	0	0	1836	1058	37	1	644	1	C16orf70	16	67168323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14302	67168323	23186430	15854	18000											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	71					0	0	1	0	0	A	67183522	G	A	67183522	2	1	22	1	0	0	0	0	0	0	0	1	1262	1074	38	1		1	B3GNT9	16	67183522	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15199	67183522	23171231	15855	18001											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	81	396					0	0	1	0	0	G	67190432	A	G	67190432	2	3	22	1	0	0	0	0	0	0	0	1	16497	291	11	3		3	TRADD	16	67190432	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6910	67190432	23164321	15856	18002											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000584272.1_Silent_p.E111E|HSF4_ENST00000421453.1_Silent_p.E111E|HSF4_ENST00000521374.1_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													24	130					0	0	1	0	0	A	67199722	G	A	67199722	2	1	22	1	0	0	0	0	0	0	0	1	7439	962	34	2		2	HSF4	16	67199722	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9290	67199722	23155031	15857	18003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000563902.1_Missense_Mutation_p.R144W|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R144W|KIAA0895L_ENST00000563831.2_Intron			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													32	391					0	0	1	0	0	A	67214084	G	A	67214084	3	1	22	1	0	0	0	0	1	0	0	0	8240	1086	38	1	1009	1	KIAA0895L	16	67214084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14362	67214084	23140669	15858	18004											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67214520C>A	ENST00000290881.7	-	0	920				KIAA0895L_ENST00000563902.1_De_novo_Start_OutOfFrame|KIAA0895L_ENST00000561621.1_De_novo_Start_OutOfFrame|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like											breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						CCATTCTGTCCTGGGGGTCAC	0.627													42	138					3.43241e-23	3.89856e-23	1	1	0	A	67214520	C	A	67214520	1	1	22	1	0	0	0	0	0	0	0	0	8240	696	24	2		2	KIAA0895L	16	67214520	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	436	67214520	23140233	15859	18005											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	298					6.25564e-26	7.19412e-26	1	1	0	T	67228615	G	T	67228615	3	4	22	1	0	0	0	0	1	0	0	0	4895	933	33	2	562	2	E2F4	16	67228615	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14095	67228615	23126138	15860	18006											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	320					0	0	1	0	0	T	67229753	A	T	67229753	3	4	22	1	0	0	0	0	1	0	0	0	4895	43	2	5	903	5	E2F4	16	67229753	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1138	67229753	23125000	15861	18007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	481					1.12924e-63	1.42582e-63	1	1	0	T	67229844	G	T	67229844	3	4	22	1	0	0	0	0	1	0	0	0	4895	971	34	2	994	2	E2F4	16	67229844	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91	67229844	23124909	15862	18008											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	345					0	0	1	0	0	T	67233304	C	T	67233304	2	4	22	1	0	0	0	0	0	0	0	1	5095	506	18	2		2	ELMO3	16	67233304	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3460	67233304	23121449	15863	18009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360833.1_Silent_p.G109G|ELMO3_ENST00000477898.1_5'UTR	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													29	126					0	0	1	0	0	A	67233635	G	A	67233635	2	1	22	1	0	0	0	0	0	0	0	1	5095	1190	42	2		2	ELMO3	16	67233635	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	331	67233635	23121118	15864	18010											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360833.1_Missense_Mutation_p.S752N|ELMO3_ENST00000477898.1_Missense_Mutation_p.S603N	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													27	96					0	0	1	0	0	A	67237764	G	A	67237764	3	1	22	1	0	0	0	0	1	0	0	0	5095	971	34	2	2384	2	ELMO3	16	67237764	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4129	67237764	23116989	15865	18011											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	422					0	0	1	0	0	T	67289057	C	T	67289057	2	4	22	1	0	0	0	0	0	0	0	1	14772	755	27	1		1	SLC9A5	16	67289057	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51293	67289057	23065696	15866	18012											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	223					0	0	1	0	0	T	67292264	C	T	67292264	4	4	22	1	0	0	0	0	0	1	0	0	14772	760	27	1	1578	1	SLC9A5	16	67292264	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3207	67292264	23062489	15867	18013											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	675					0	0	1	0	0	T	67333397	C	T	67333397	2	4	22	1	0	0	0	0	0	0	0	1	8150	755	27	1		1	KCTD19	16	67333397	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41133	67333397	23021356	15868	18014											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	5	118					0.00198382	0.00200138	1	1	0	T	67360624	G	T	67360624	1	4	22	1	0	0	0	0	0	0	0	0	8150	986	34	2		2	KCTD19	16	67360624	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27227	67360624	22994129	15869	18015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000290942.5_Silent_p.Y160Y|TPPP3_ENST00000562206.1_Silent_p.Y160Y|TPPP3_ENST00000393957.2_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													39	356					0	0	1	0	0	A	67424128	G	A	67424128	2	1	22	1	0	0	0	0	0	0	0	1	16476	1140	40	1		1	TPPP3	16	67424128	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63504	67424128	22930625	15870	18016											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	123					0	0	1	0	0	C	67429051	A	C	67429051	3	2	22	1	0	0	0	0	1	0	0	0	17658	159	6	3	381	3	ZDHHC1	16	67429051	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4923	67429051	22925702	15871	18017											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	76					0	0	1	0	0	T	67432548	C	T	67432548	3	4	22	1	0	0	0	0	1	0	0	0	17658	768	27	1	735	1	ZDHHC1	16	67432548	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3497	67432548	22922205	15872	18018											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	100					0	0	1	0	0	C	67432784	T	C	67432784	2	2	22	1	0	0	0	0	0	0	0	1	17658	1451	51	3		3	ZDHHC1	16	67432784	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	236	67432784	22921969	15873	18019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540149.1_Silent_p.L318L|ATP6V0D1_ENST00000602876.1_Silent_p.L200L|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													155	663					0	0	1	0	0	A	67472759	G	A	67472759	2	1	22	1	0	0	0	0	0	0	0	1	1171	929	33	2		2	ATP6V0D1	16	67472759	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39975	67472759	22881994	15874	18020											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422602.2_Silent_p.V268V|FAM65A_ENST00000428437.2_Silent_p.V262V|FAM65A_ENST00000379312.3_Silent_p.V252V|FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000042381.4_Silent_p.V248V			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													120	567					0	0	1	0	0	A	67574550	G	A	67574550	2	1	22	1	0	0	0	0	0	0	0	1	5634	1364	48	2		2	FAM65A	16	67574550	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101791	67574550	22780203	15875	18021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422602.2_Missense_Mutation_p.R928H|FAM65A_ENST00000428437.2_Missense_Mutation_p.R922H|FAM65A_ENST00000379312.3_Missense_Mutation_p.R912H|FAM65A_ENST00000042381.4_Missense_Mutation_p.R908H			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													129	560					0	0	1	0	0	A	67578324	G	A	67578324	3	1	22	1	0	0	0	0	1	0	0	0	5634	1087	38	1	2777	1	FAM65A	16	67578324	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3774	67578324	22776429	15876	18022											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422602.2_Nonsense_Mutation_p.R955*|FAM65A_ENST00000428437.2_Nonsense_Mutation_p.R949*|FAM65A_ENST00000379312.3_Nonsense_Mutation_p.R939*|FAM65A_ENST00000042381.4_Nonsense_Mutation_p.R935*			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													126	513					0	0	1	0	0	T	67578667	C	T	67578667	4	4	22	1	0	0	0	0	0	1	0	0	5634	644	23	1	2861	1	FAM65A	16	67578667	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	343	67578667	22776086	15877	18023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422602.2_Missense_Mutation_p.S1141L|FAM65A_ENST00000428437.2_Missense_Mutation_p.S1135L|FAM65A_ENST00000379312.3_Missense_Mutation_p.S1125L|FAM65A_ENST00000042381.4_Missense_Mutation_p.S1121L			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													37	358					0	0	1	0	0	T	67579738	C	T	67579738	3	4	22	1	0	0	0	0	1	0	0	0	5634	838	29	2	3432	2	FAM65A	16	67579738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1071	67579738	22775015	15878	18024											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	411					0	0	1	0	0	T	67645871	C	T	67645871	4	4	22	1	0	0	0	0	0	1	0	0	4024	595	21	2	805	2	CTCF	16	67645871	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66133	67645871	22708882	15879	18025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													135	528					3.08405e-71	3.92057e-71	1	1	0	A	67662366	C	A	67662366	3	1	22	1	0	0	0	0	1	0	0	0	4024	913	32	2	1638	2	CTCF	16	67662366	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16495	67662366	22692387	15880	18026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	141					0	0	1	0	0	A	67680837	G	A	67680837	3	1	22	1	0	0	0	0	1	0	0	0	13446	1087	38	1	602	1	RLTPR	16	67680837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18471	67680837	22673916	15881	18027											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	17	67					0	0	1	0	0	A	67702121	G	A	67702121	3	1	22	1	0	0	0	0	1	0	0	0	1846	1116	39	1	586	1	C16orf86	16	67702121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21284	67702121	22652632	15882	18028											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000219172.3_Missense_Mutation_p.P135T|CENPT_ENST00000564817.1_Missense_Mutation_p.P135T|CENPT_ENST00000440851.2_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													28	90					6.07407e-21	6.82693e-21	1	1	0	T	67865777	G	T	67865777	3	4	22	1	0	0	0	0	1	0	0	0	3264	1174	41	2	1318	2	CENPT	16	67865777	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163656	67865777	22488976	15883	18029											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													191	749					0	0	1	0	0	T	67914671	C	T	67914671	3	4	22	1	0	0	0	0	1	0	0	0	4934	797	28	2	2379	2	EDC4	16	67914671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48894	67914671	22440082	15884	18030											
CTRL	1506	broad.mit.edu	37	chr16	67963919	67963919	+	Frame_Shift_Del	DEL	T	T	-													caggtgcgcgcacattgcagTttttggtgccccaggagaca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67963919delT	ENST00000574481.1	-	7	1274	c.713delA	c.(712-714)acfs	p.N238fs		NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	238	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CACATTGCAGTTTTTGGTGCC	0.552													7	715	---	---	---	---						-	67963919	T	-	67963919	7	5	22	1	0	1	0	1	0	0	0	0	4052	1725	60	0	85	0	CTRL	16	67963919	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	49248	67963919	22390834	15885	18031											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	213					0	0	1	0	0	A	67969889	G	A	67969889	2	1	22	1	0	0	0	0	0	0	0	1	12724	1306	46	2		2	PSMB10	16	67969889	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5970	67969889	22384864	15886	18032											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541864.2_Missense_Mutation_p.K676T|SLC12A4_ENST00000338335.3_Missense_Mutation_p.K707T|SLC12A4_ENST00000537830.2_Missense_Mutation_p.K701T|SLC12A4_ENST00000576616.1_Missense_Mutation_p.K707T|SLC12A4_ENST00000316341.3_Missense_Mutation_p.K707T|SLC12A4_ENST00000572037.1_Missense_Mutation_p.K659T	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													11	115					0	0	1	0	0	G	67980961	T	G	67980961	3	3	22	1	0	0	0	0	1	0	0	0	14440	1609	56	3	1169	3	SLC12A4	16	67980961	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11072	67980961	22373792	15887	18033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541864.2_Silent_p.G456G|SLC12A4_ENST00000338335.3_Silent_p.G487G|SLC12A4_ENST00000537830.2_Silent_p.G481G|SLC12A4_ENST00000576616.1_Silent_p.G487G|SLC12A4_ENST00000316341.3_Silent_p.G487G|SLC12A4_ENST00000572037.1_Silent_p.G439G	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													41	184					0	0	1	0	0	A	67984390	G	A	67984390	2	1	22	1	0	0	0	0	0	0	0	1	14440	1074	38	1		1	SLC12A4	16	67984390	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3429	67984390	22370363	15888	18034											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	128					0	0	1	0	0	T	68011244	C	T	68011244	3	4	22	1	0	0	0	0	1	0	0	0	4742	739	26	2	535	2	DPEP3	16	68011244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26854	68011244	22343509	15889	18035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	332					0	0	1	0	0	C	68055940	T	C	68055940	3	2	22	1	0	0	0	0	1	0	0	0	4378	1667	58	3	460	3	DDX28	16	68055940	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44696	68055940	22298813	15890	18036											
DUS2L	0	broad.mit.edu	37	chr16	68107975	68107975	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactacaccaacaccaagtaCtgcttgtgccagatgctacg	7	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68107975C>A	ENST00000565263.1	+	13	1343	c.849C>A	c.(847-849)taC>taA	p.Y283*	DUS2L_ENST00000358896.6_Nonsense_Mutation_p.Y283*|DUS2L_ENST00000432752.1_Nonsense_Mutation_p.Y248*	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		283					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		ACACCAAGTACTGCTTGTGCC	0.537													7	293					0.248553	0.24873	1	1	0	A	68107975	C	A	68107975	4	1	22	1	0	0	0	0	0	1	0	0	4832	576	20	2	891	2	DUS2L	16	68107975	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52035	68107975	22246778	15891	18037											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	NFATC3_ENST00000575270.1_Missense_Mutation_p.S75P|NFATC3_ENST00000346183.3_Missense_Mutation_p.S75P|NFATC3_ENST00000329524.4_Missense_Mutation_p.S75P|NFATC3_ENST00000535127.2_3'UTR|RP11-67A1.2_ENST00000548144.1_RNA	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													151	546					0	0	1	0	0	C	68156009	T	C	68156009	3	2	22	1	0	0	0	0	1	0	0	0	10411	1667	58	3	229	3	NFATC3	16	68156009	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	48034	68156009	22198744	15892	18038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000575270.1_Missense_Mutation_p.H233Y|NFATC3_ENST00000346183.3_Missense_Mutation_p.H233Y|NFATC3_ENST00000329524.4_Missense_Mutation_p.H233Y|NFATC3_ENST00000535127.2_3'UTR	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													57	294					0	0	1	0	0	T	68156483	C	T	68156483	3	4	22	1	0	0	0	0	1	0	0	0	10411	478	17	2	703	2	NFATC3	16	68156483	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	474	68156483	22198270	15893	18039											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	75	353					0	0	1	0	0	C	68264135	A	C	68264135	3	2	22	1	0	0	0	0	1	0	0	0	5287	41	2	3	9	3	ESRP2	16	68264135	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	107652	68264135	22090618	15894	18040											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	436					0	0	1	0	0	T	68264366	C	T	68264366	3	4	22	1	0	0	0	0	1	0	0	0	5287	797	28	2	171	2	ESRP2	16	68264366	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	231	68264366	22090387	15895	18041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PLA2G15_ENST00000444212.2_Silent_p.G159G|PLA2G15_ENST00000413021.2_Silent_p.G265G|PLA2G15_ENST00000566188.1_3'UTR|RP11-96D1.7_ENST00000563175.1_RNA	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													63	311					0	0	1	0	0	T	68293398	C	T	68293398	2	4	22	1	0	0	0	0	0	0	0	1	12040	755	27	1		1	PLA2G15	16	68293398	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29032	68293398	22061355	15896	18042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449359.3_Missense_Mutation_p.A123V|PRMT7_ENST00000348497.4_Missense_Mutation_p.A99V|PRMT7_ENST00000441236.1_Missense_Mutation_p.A123V|PRMT7_ENST00000564441.1_3'UTR			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													52	268					0	0	1	0	0	T	68373238	C	T	68373238	3	4	22	1	0	0	0	0	1	0	0	0	12593	739	26	2	540	2	PRMT7	16	68373238	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79840	68373238	21981515	15897	18043											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449359.3_Missense_Mutation_p.R481Q|PRMT7_ENST00000348497.4_Missense_Mutation_p.R383Q|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													15	356					0	0	1	0	0	A	68387411	G	A	68387411	3	1	22	1	0	0	0	0	1	0	0	0	12593	1116	39	1	1646	1	PRMT7	16	68387411	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14173	68387411	21967342	15898	18044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	96					0	0	1	0	0	G	68404770	A	G	68404770	3	3	22	1	0	0	0	0	1	0	0	0	14860	43	2	3	680	3	SMPD3	16	68404770	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17359	68404770	21949983	15899	18045											
CDH3	1001	broad.mit.edu	37	chr16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-													agggtttggattttgaggccAaaaaccagcacaccctgtac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aafs	p.K401fs	CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522													11	1993	---	---	---	---						-	68718504	A	-	68718504	7	5	22	1	0	1	0	1	0	0	0	0	3133	131	5	0	1239	0	CDH3	16	68718504	Frame_Shift_Del	DEL	A	TCGA-IB-7651-01A-11D-2154-08	313734	68718504	21636249	15900	18046											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				51	240					1.32667e-27	1.53764e-27	1	1	0	A	68863587	C	A	68863587	3	1	22	1	0	0	0	0	1	0	0	0	3117	680	24	2	2384	2	CDH1	16	68863587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145083	68863587	21491166	15901	18047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000569188.1_Silent_p.R194R|HAS3_ENST00000219322.3_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													44	160					0	0	1	0	0	T	69143880	C	T	69143880	2	4	22	1	0	0	0	0	0	0	0	1	7004	755	27	1		1	HAS3	16	69143880	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	280293	69143880	21210873	15902	18048											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000569188.1_Silent_p.T380T|HAS3_ENST00000219322.3_Intron	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													143	535					1.15162e-75	1.46888e-75	1	1	0	A	69148647	C	A	69148647	2	1	22	1	0	0	0	0	0	0	0	1	7004	668	24	2		2	HAS3	16	69148647	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4767	69148647	21206106	15903	18049											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000314423.7_Missense_Mutation_p.D608A|CIRH1A_ENST00000352319.4_Missense_Mutation_p.D493A			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													38	161					0	0	1	0	0	C	69199419	A	C	69199419	3	2	22	1	0	0	0	0	1	0	0	0	3456	275	10	3	1877	3	CIRH1A	16	69199419	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	50772	69199419	21155334	15904	18050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	455					0	0	1	0	0	T	69395344	C	T	69395344	2	4	22	1	0	0	0	0	0	0	0	1	15821	912	32	2		2	TERF2	16	69395344	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195925	69395344	20959409	15905	18051											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354436.2_Nonsense_Mutation_p.Q710*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q634*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q728*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q727*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q634*	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													70	309					0	0	1	0	0	T	69725910	C	T	69725910	4	4	22	1	0	0	0	0	0	1	0	0	10407	479	17	2	2232	2	NFAT5	16	69725910	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	330566	69725910	20628843	15906	18052											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354436.2_Missense_Mutation_p.T716I|NFAT5_ENST00000566899.1_Missense_Mutation_p.T640I|NFAT5_ENST00000432919.1_Missense_Mutation_p.T734I|NFAT5_ENST00000567239.1_Missense_Mutation_p.T733I|NFAT5_ENST00000393742.2_Missense_Mutation_p.T640I	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													66	303					0	0	1	0	0	T	69725929	C	T	69725929	3	4	22	1	0	0	0	0	1	0	0	0	10407	565	20	2	2251	2	NFAT5	16	69725929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	69725929	20628824	15907	18053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.P260P|WWP2_ENST00000542271.1_Silent_p.P144P|WWP2_ENST00000569174.1_Silent_p.P260P|WWP2_ENST00000356003.2_Silent_p.P260P	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													105	486					3.88716e-44	4.75385e-44	1	1	0	A	69922018	C	A	69922018	2	1	22	1	0	0	0	0	0	0	0	1	17476	668	24	2		2	WWP2	16	69922018	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	196089	69922018	20432735	15908	18054											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448661.1_Silent_p.N729N|WWP2_ENST00000542271.1_Silent_p.N613N|WWP2_ENST00000568684.1_Silent_p.N290N|WWP2_ENST00000356003.2_Silent_p.N729N	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													56	240					0	0	1	0	0	T	69971090	C	T	69971090	2	4	22	1	0	0	0	0	0	0	0	1	17476	535	19	1		1	WWP2	16	69971090	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49072	69971090	20383663	15909	18055											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542659.1_Nonsense_Mutation_p.Q102*|PDPR_ENST00000568530.1_Nonsense_Mutation_p.Q757*|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000398122.3_Nonsense_Mutation_p.Q657*|PDPR_ENST00000567046.1_Nonsense_Mutation_p.Q115*|PDPR_ENST00000562100.1_3'UTR	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													74	579					0	0	1	0	0	T	70190411	C	T	70190411	4	4	22	1	0	0	0	0	0	1	0	0	11736	711	25	2	2335	2	PDPR	16	70190411	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219321	70190411	20164342	15910	18056											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	24	614					0	0	1	0	0	A	70286690	G	A	70286690	2	1	22	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	15911	18057											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	17	371					9.16793e-09	9.60025e-09	1	1	0	A	70287683	C	A	70287683	3	1	22	1	0	0	0	0	1	0	0	0	19	564	20	2	377	2	AARS	16	70287683	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	993	70287683	20067070	15912	18058											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378912.2_Missense_Mutation_p.D231G|FUK_ENST00000571514.1_Intron	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													68	242					0	0	1	0	0	G	70501802	A	G	70501802	3	3	22	1	0	0	0	0	1	0	0	0	6131	275	10	3	622	3	FUK	16	70501802	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	214119	70501802	19852951	15913	18059											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	239					0	0	1	0	0	T	70534950	C	T	70534950	3	4	22	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	15914	18060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	263					0	0	1	0	0	G	70557354	T	G	70557354	3	3	22	1	0	0	0	0	1	0	0	0	3683	1838	64	3	2352	3	COG4	16	70557354	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22404	70557354	19797399	15915	18061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	359					0	0	1	0	0	T	70589013	C	T	70589013	2	4	22	1	0	0	0	0	0	0	0	1	14206	610	22	2		2	SF3B3	16	70589013	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31659	70589013	19765740	15916	18062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													119	502					0	0	1	0	0	A	70589061	G	A	70589061	2	1	22	1	0	0	0	0	0	0	0	1	14206	1335	47	2		2	SF3B3	16	70589061	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	70589061	19765692	15917	18063	116	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	529					0	0	1	0	0	A	70589068	G	A	70589068	3	1	22	1	0	0	0	0	1	0	0	0	14206	1319	46	2	1715	2	SF3B3	16	70589068	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7	70589068	19765685	15918	18064	116	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	283					1.74807e-11	1.86564e-11	1	1	0	T	70603981	G	T	70603981	3	4	22	1	0	0	0	0	1	0	0	0	14206	1000	35	2	3427	2	SF3B3	16	70603981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14913	70603981	19750772	15919	18065											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	269					0	0	1	0	0	T	70605707	C	T	70605707	2	4	22	1	0	0	0	0	0	0	0	1	14206	547	19	1		1	SF3B3	16	70605707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1726	70605707	19749046	15920	18066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	76					9.7654e-05	9.93505e-05	1	1	0	T	70698336	G	T	70698336	4	4	22	1	0	0	0	0	0	1	0	0	10011	963	34	2	759	2	MTSS1L	16	70698336	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92629	70698336	19656417	15921	18067											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	53					0	0	1	0	0	A	70714875	G	A	70714875	2	1	22	1	0	0	0	0	0	0	0	1	10011	1219	43	2		2	MTSS1L	16	70714875	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16539	70714875	19639878	15922	18068											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	295					1.356e-25	1.55723e-25	1	1	0	T	70778369	G	T	70778369	2	4	22	1	0	0	0	0	0	0	0	1	17171	1161	41	2		2	VAC14	16	70778369	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63494	70778369	19576384	15923	18069											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	254					0	0	1	0	0	A	70815788	G	A	70815788	2	1	22	1	0	0	0	0	0	0	0	1	17171	1140	40	1		1	VAC14	16	70815788	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37419	70815788	19538965	15924	18070											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													142	656					0	0	1	0	0	A	70818699	G	A	70818699	3	1	22	1	0	0	0	0	1	0	0	0	17171	971	34	2	1946	2	VAC14	16	70818699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2911	70818699	19536054	15925	18071											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	359					0	0	1	0	0	G	70841708	A	G	70841708	2	3	22	1	0	0	0	0	0	0	0	1	7511	340	12	3		3	HYDIN	16	70841708	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23009	70841708	19513045	15926	18072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	110					0	0	1	0	0	G	70954552	A	G	70954552	3	3	22	1	0	0	0	0	1	0	0	0	7511	14	1	3	7802	3	HYDIN	16	70954552	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112844	70954552	19400201	15927	18073											
FTSJD1	0	broad.mit.edu	37	chr16	71318457	71318457	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcctttggctactttatctTtccatgaaagggcttctagc	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71318457T>G	ENST00000338099.5	-	3	1703	c.1367A>C	c.(1366-1368)aAa>aCa	p.K456T	FTSJD1_ENST00000434935.2_Missense_Mutation_p.K456T			Q8IYT2	FTSJ1_HUMAN		456						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TACTTTATCTTTCCATGAAAG	0.353													72	314					0	0	1	0	0	G	71318457	T	G	71318457	3	3	22	1	0	0	0	0	1	0	0	0	6125	1841	64	3	949	3	FTSJD1	16	71318457	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	363905	71318457	19036296	15928	18074											
FTSJD1	0	broad.mit.edu	37	chr16	71319453	71319453	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgtggaataagtggaaagCtgcacaaaatctcatggaac	10	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71319453C>A	ENST00000338099.5	-	3	707	c.371G>T	c.(370-372)aGc>aTc	p.S124I	FTSJD1_ENST00000434935.2_Missense_Mutation_p.S124I			Q8IYT2	FTSJ1_HUMAN		124						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAGTGGAAAGCTGCACAAAAT	0.388													80	295					5.04879e-28	5.86081e-28	1	1	0	A	71319453	C	A	71319453	3	1	22	1	0	0	0	0	1	0	0	0	6125	797	28	2	1945	2	FTSJD1	16	71319453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	996	71319453	19035300	15929	18075											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000564230.1_Missense_Mutation_p.G113V|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000565637.1_Missense_Mutation_p.G71V|ZNF19_ENST00000565100.2_Missense_Mutation_p.G43V	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													41	234					8.69298e-16	9.51602e-16	1	1	0	A	71510112	C	A	71510112	3	1	22	1	0	0	0	0	1	0	0	0	17813	623	22	2	1042	2	ZNF19	16	71510112	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	190659	71510112	18844641	15930	18076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	295					2.7689e-08	2.89045e-08	1	1	0	T	71604256	G	T	71604256	2	4	22	1	0	0	0	0	0	0	0	1	15647	987	35	2		2	TAT	16	71604256	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94144	71604256	18750497	15931	18077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	302					0	0	1	0	0	T	71604584	C	T	71604584	3	4	22	1	0	0	0	0	1	0	0	0	15647	835	29	2	474	2	TAT	16	71604584	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	328	71604584	18750169	15932	18078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron	NM_001017967.2	NP_001017967.2	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													18	261					0	0	1	0	0	T	71674597	C	T	71674597	2	4	22	1	0	0	0	0	0	0	0	1	9369	842	30	2		2	MARVELD3	16	71674597	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70013	71674597	18680156	15933	18079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000568954.1_Missense_Mutation_p.S1019N|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S1054N|PHLPP2_ENST00000356272.3_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													191	757					0	0	1	0	0	T	71683709	C	T	71683709	3	4	22	1	0	0	0	0	1	0	0	0	11903	797	28	2	919	2	PHLPP2	16	71683709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9112	71683709	18671044	15934	18080											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000568954.1_Missense_Mutation_p.E939K|PHLPP2_ENST00000360429.3_Missense_Mutation_p.E939K|PHLPP2_ENST00000567016.1_Missense_Mutation_p.E974K|PHLPP2_ENST00000356272.3_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													41	278					0	0	1	0	0	T	71686695	C	T	71686695	3	4	22	1	0	0	0	0	1	0	0	0	11903	922	32	2	1164	2	PHLPP2	16	71686695	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2986	71686695	18668058	15935	18081											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000568954.1_Missense_Mutation_p.S704G|PHLPP2_ENST00000360429.3_Missense_Mutation_p.S704G|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S739G|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S704G			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													118	463					0	0	1	0	0	C	71692594	T	C	71692594	3	2	22	1	0	0	0	0	1	0	0	0	11903	1580	55	3	1885	3	PHLPP2	16	71692594	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5899	71692594	18662159	15936	18082											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000568954.1_Missense_Mutation_p.I341T|PHLPP2_ENST00000360429.3_Missense_Mutation_p.I341T|PHLPP2_ENST00000567016.1_Missense_Mutation_p.I376T|PHLPP2_ENST00000356272.3_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													65	273					0	0	1	0	0	G	71713307	A	G	71713307	3	3	22	1	0	0	0	0	1	0	0	0	11903	101	4	3	3001	3	PHLPP2	16	71713307	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20713	71713307	18641446	15937	18083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000219240.4_Silent_p.R221R|DHODH_ENST00000573922.1_Intron			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													14	96					0	0	1	0	0	A	72055168	G	A	72055168	2	1	22	1	0	0	0	0	0	0	0	1	4512	1161	41	2		2	DHODH	16	72055168	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	341861	72055168	18299585	15938	18084											
HPR	3250	broad.mit.edu	37	chr16	72107680	72107681	+	Frame_Shift_Del	DEL	TG	TG	-													gaggagtgtgtgtgtatgcaTgtgtgtgtgtgcgtgtgtgt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72107680_72107681delTG	ENST00000228226.8	+	1	6_7	c.6_7delTG	c.(4-9)catgfs	p.HV2fs	HPR_ENST00000356967.5_Intron|HPR_ENST00000561690.1_Intron|HPR_ENST00000540303.2_Intron			P00739	HPTR_HUMAN	haptoglobin-related protein	0					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)				tgtgtatgcatgtgtgtgtgtg	0.51													7	180	---	---	---	---						-	72107681	TG	-	72107680	7	5	22	1	0	1	0	1	0	0	0	0	7378	1479	51	0		0	HPR	16	72107680	Frame_Shift_Del	DEL	TG	TCGA-IB-7651-01A-11D-2154-08	52512	72107680	18247073	15939	18085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000228226.8_Missense_Mutation_p.A156V|HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Missense_Mutation_p.A119V	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													59	201					0	0	1	0	0	T	72110289	C	T	72110289	3	4	22	1	0	0	0	0	1	0	0	0	7378	797	28	2	374	2	HPR	16	72110289	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2609	72110289	18244464	15940	18086											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													135	540					0	0	1	0	0	C	72138495	T	C	72138495	2	2	22	1	0	0	0	0	0	0	0	1	4539	1625	57	3		3	DHX38	16	72138495	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28206	72138495	18216258	15941	18087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	232					0	0	1	0	0	A	72141387	G	A	72141387	3	1	22	1	0	0	0	0	1	0	0	0	4539	1175	41	2	2823	2	DHX38	16	72141387	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2892	72141387	18213366	15942	18088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	285					0	0	1	0	0	T	72821372	C	T	72821372	2	4	22	1	0	0	0	0	0	0	0	1	17692	639	23	1		1	ZFHX3	16	72821372	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	679985	72821372	17533381	15943	18089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													165	415					0	0	1	0	0	T	72821392	C	T	72821392	3	4	22	1	0	0	0	0	1	0	0	0	17692	884	31	1	332	1	ZFHX3	16	72821392	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	72821392	17533361	15944	18090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	799					0	0	1	0	0	T	72821414	C	T	72821414	2	4	22	1	0	0	0	0	0	0	0	1	17692	755	27	1		1	ZFHX3	16	72821414	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	72821414	17533339	15945	18091											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	280					0	0	1	0	0	T	72822080	C	T	72822080	2	4	22	1	0	0	0	0	0	0	0	1	17692	796	28	2		2	ZFHX3	16	72822080	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	666	72822080	17532673	15946	18092											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													149	807					0	0	1	0	0	T	72822708	C	T	72822708	3	4	22	1	0	0	0	0	1	0	0	0	17692	797	28	2	1648	2	ZFHX3	16	72822708	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	628	72822708	17532045	15947	18093											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	524					1.36161e-19	1.52027e-19	1	1	0	A	72828120	C	A	72828120	3	1	22	1	0	0	0	0	1	0	0	0	17692	565	20	2	2658	2	ZFHX3	16	72828120	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5412	72828120	17526633	15948	18094											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	615					0	0	1	0	0	G	72829446	T	G	72829446	3	3	22	1	0	0	0	0	1	0	0	0	17692	1580	55	3	3984	3	ZFHX3	16	72829446	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1326	72829446	17525307	15949	18095											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													181	935					3.52435e-65	4.45622e-65	1	1	0	A	72829708	C	A	72829708	3	1	22	1	0	0	0	0	1	0	0	0	17692	912	32	2	4246	2	ZFHX3	16	72829708	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262	72829708	17525045	15950	18096											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	323					4.8811e-34	5.79764e-34	1	1	0	A	72830247	C	A	72830247	3	1	22	1	0	0	0	0	1	0	0	0	17692	739	26	2	4785	2	ZFHX3	16	72830247	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	539	72830247	17524506	15951	18097											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	431					4.37588e-27	5.05892e-27	1	1	0	A	72831208	C	A	72831208	3	1	22	1	0	0	0	0	1	0	0	0	17692	796	28	2	5746	2	ZFHX3	16	72831208	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	961	72831208	17523545	15952	18098											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													171	502					0	0	1	0	0	T	72992964	C	T	72992964	3	4	22	1	0	0	0	0	1	0	0	0	17692	661	23	1	10066	1	ZFHX3	16	72992964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161756	72992964	17361789	15953	18099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	449					0	0	1	0	0	A	74524940	G	A	74524940	4	1	22	1	0	0	0	0	0	1	0	0	6478	1066	37	1	2287	1	GLG1	16	74524940	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1531976	74524940	15829813	15954	18100											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													182	578					0	0	1	0	0	T	74678318	C	T	74678318	3	4	22	1	0	0	0	0	1	0	0	0	13313	536	19	1	1335	1	RFWD3	16	74678318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153378	74678318	15676435	15955	18101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	348					0	0	1	0	0	T	74709292	C	T	74709292	3	4	22	1	0	0	0	0	1	0	0	0	9667	536	19	1	257	1	MLKL	16	74709292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30974	74709292	15645461	15956	18102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000567962.1_Missense_Mutation_p.D180Y|ZNRF1_ENST00000564320.1_3'UTR|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													11	52					0.000978159	0.000988919	1	1	0	T	75138699	G	T	75138699	3	4	22	1	0	0	0	0	1	0	0	0	18253	942	33	2	548	2	ZNRF1	16	75138699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	429407	75138699	15216054	15957	18103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393422.2_Silent_p.A850A|BCAR1_ENST00000162330.5_Silent_p.A832A|BCAR1_ENST00000542031.2_Silent_p.A830A|BCAR1_ENST00000538440.2_Silent_p.A832A|BCAR1_ENST00000535626.2_Silent_p.A684A|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Silent_p.A850A|BCAR1_ENST00000418647.3_Silent_p.A878A|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													17	145					0	0	1	0	0	A	75263526	G	A	75263526	2	1	22	1	0	0	0	0	0	0	0	1	1346	1103	39	1		1	BCAR1	16	75263526	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124827	75263526	15091227	15958	18104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393422.2_Missense_Mutation_p.R708W|BCAR1_ENST00000162330.5_Missense_Mutation_p.R690W|BCAR1_ENST00000542031.2_Missense_Mutation_p.R688W|BCAR1_ENST00000538440.2_Missense_Mutation_p.R690W|BCAR1_ENST00000535626.2_Missense_Mutation_p.R542W|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Missense_Mutation_p.R708W|BCAR1_ENST00000418647.3_Missense_Mutation_p.R736W|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													13	67					0	0	1	0	0	A	75267776	G	A	75267776	3	1	22	1	0	0	0	0	1	0	0	0	1346	1086	38	1	552	1	BCAR1	16	75267776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4250	75267776	15086977	15959	18105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393422.2_Missense_Mutation_p.P112S|BCAR1_ENST00000162330.5_Missense_Mutation_p.P94S|BCAR1_ENST00000542031.2_Missense_Mutation_p.P92S|BCAR1_ENST00000538440.2_Missense_Mutation_p.P94S|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000420641.3_Missense_Mutation_p.P112S|BCAR1_ENST00000418647.3_Missense_Mutation_p.P140S|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													89	381					0	0	1	0	0	A	75276721	G	A	75276721	3	1	22	1	0	0	0	0	1	0	0	0	1346	1203	42	2	2417	2	BCAR1	16	75276721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8945	75276721	15078032	15960	18106											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000561887.1_5'UTR|TMEM170A_ENST00000566980.1_Intron|RP11-77K12.1_ENST00000567194.1_Missense_Mutation_p.G31V|TMEM170A_ENST00000569276.1_Missense_Mutation_p.G31V|TMEM170A_ENST00000567796.1_Intron|TMEM170A_ENST00000561878.1_Missense_Mutation_p.G31V			Q8WVE7	T170A_HUMAN	transmembrane protein 170A	31						integral to membrane				endometrium(1)	1						GCACAGGGTCCCGTTGCCCAC	0.746													42	124					3.38236e-24	3.86174e-24	1	1	0	A	75498407	C	A	75498407	3	1	22	1	0	0	0	0	1	0	0	0	16146	623	22	2	354	2	TMEM170A	16	75498407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221686	75498407	14856346	15961	18107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.A332D	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													18	497					5.03518e-11	5.3609e-11	1	1	0	T	75512732	G	T	75512732	3	4	22	1	0	0	0	0	1	0	0	0	3430	1203	42	2	196	2	CHST6	16	75512732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14325	75512732	14842021	15962	18108											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.S27T	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													27	74					0	0	1	0	0	T	75513648	A	T	75513648	3	4	22	1	0	0	0	0	1	0	0	0	3430	246	9	5	1112	5	CHST6	16	75513648	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	916	75513648	14841105	15963	18109											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.S415S	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													10	177					0	0	1	0	0	T	75563056	C	T	75563056	2	4	22	1	0	0	0	0	0	0	0	1	3429	755	27	1		1	CHST5	16	75563056	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49408	75563056	14791697	15964	18110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.V226M	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													118	590					0	0	1	0	0	T	75563625	C	T	75563625	3	4	22	1	0	0	0	0	1	0	0	0	3429	536	19	1	581	1	CHST5	16	75563625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	569	75563625	14791128	15965	18111											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	GABARAPL2_ENST00000568455.1_5'UTR|GABARAPL2_ENST00000563744.1_Missense_Mutation_p.P26L|GABARAPL2_ENST00000565057.1_Missense_Mutation_p.P26L|RP11-77K12.8_ENST00000564489.1_RNA	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													68	227					0	0	1	0	0	T	75600792	C	T	75600792	3	4	22	1	0	0	0	0	1	0	0	0	6189	623	22	2	83	2	GABARAPL2	16	75600792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37167	75600792	14753961	15966	18112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													229	1015					0	0	1	0	0	A	75642133	G	A	75642133	2	1	22	1	0	0	0	0	0	0	0	1	283	1194	42	2		2	ADAT1	16	75642133	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41341	75642133	14712620	15967	18113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.T500A	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													100	1177					0	0	1	0	0	C	75663366	T	C	75663366	3	2	22	1	0	0	0	0	1	0	0	0	8024	1638	57	3	307	3	KARS	16	75663366	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21233	75663366	14691387	15968	18114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	420					0	0	1	0	0	C	75690139	T	C	75690139	3	2	22	1	0	0	0	0	1	0	0	0	15822	1406	49	3	840	3	TERF2IP	16	75690139	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26773	75690139	14664614	15969	18115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377504.4_Missense_Mutation_p.F112V|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.F116V|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.F88V|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													32	447					0	0	1	0	0	G	76389355	T	G	76389355	3	3	22	1	0	0	0	0	1	0	0	0	3672	1725	60	3	360	3	CNTNAP4	16	76389355	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	699216	76389355	13965398	15970	18116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377504.4_Intron|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.M360L|CNTNAP4_ENST00000478060.1_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													8	61					0	0	1	0	0	T	76483753	A	T	76483753	3	4	22	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	15971	18117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377504.4_Missense_Mutation_p.T872M|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.T924M|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.T848M|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													42	272					0	0	1	0	0	T	76569448	C	T	76569448	3	4	22	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	15972	18118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377504.4_Silent_p.F1259F|CNTNAP4_ENST00000476707.1_Silent_p.F1311F|CNTNAP4_ENST00000478060.1_Silent_p.F1235F|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													27	122					0	0	1	0	0	T	76592577	C	T	76592577	2	4	22	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	15973	18119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000320859.6_Intron|MON1B_ENST00000545553.1_Silent_p.L197L	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													120	617					0	0	1	0	0	T	77228783	C	T	77228783	2	4	22	1	0	0	0	0	0	0	0	1	9748	680	24	2		2	MON1B	16	77228783	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	636206	77228783	13125970	15974	18120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000320859.6_Intron|MON1B_ENST00000545553.1_Missense_Mutation_p.L205M	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													167	460					4.62547e-62	5.82772e-62	1	1	0	A	77228807	C	A	77228807	3	1	22	1	0	0	0	0	1	0	0	0	9748	796	28	2	1061	2	MON1B	16	77228807	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24	77228807	13125946	15975	18121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	366					0	0	1	0	0	A	77323306	G	A	77323306	2	1	22	1	0	0	0	0	0	0	0	1	262	1311	46	2		2	ADAMTS18	16	77323306	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94499	77323306	13031447	15976	18122											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	236					0	0	1	0	0	T	77328833	C	T	77328833	3	4	22	1	0	0	0	0	1	0	0	0	262	855	30	2	692	2	ADAMTS18	16	77328833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5527	77328833	13025920	15977	18123											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													137	324					0	0	1	0	0	A	77389909	G	A	77389909	3	1	22	1	0	0	0	0	1	0	0	0	262	1232	43	2	2337	2	ADAMTS18	16	77389909	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61076	77389909	12964844	15978	18124											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	242					0	0	1	0	0	A	77398216	G	A	77398216	4	1	22	1	0	0	0	0	0	1	0	0	262	1095	38	1	2900	1	ADAMTS18	16	77398216	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8307	77398216	12956537	15979	18125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77401620A>C	ENST00000282849.5	-	4	914	c.495_splice	c.e4-1	p.S166_splice	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													96	314					0	0	1	0	0	C	77401620	A	C	77401620	5	2	22	1	0	0	0	0	0	0	1	0	262	289	10	3	3249	3	ADAMTS18	16	77401620	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3404	77401620	12953133	15980	18126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	420					0	0	1	0	0	T	77850827	C	T	77850827	2	4	22	1	0	0	0	0	0	0	0	1	17190	564	20	2		2	VAT1L	16	77850827	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	449207	77850827	12503926	15981	18127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402655.2_Silent_p.G124G|WWOX_ENST00000406884.2_Silent_p.G124G|WWOX_ENST00000539474.2_Silent_p.G124G|WWOX_ENST00000408984.3_Silent_p.G124G|WWOX_ENST00000355860.3_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													142	427					0	0	1	0	0	T	78149014	C	T	78149014	2	4	22	1	0	0	0	0	0	0	0	1	17474	697	25	2		2	WWOX	16	78149014	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	298187	78149014	12205739	15982	18128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								8	33					0	0	1	0	0	T	79633438	C	T	79633438	3	4	22	1	0	0	0	0	1	0	0	0	9201	797	28	2	861	2	MAF	16	79633438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1484424	79633438	10721315	15983	18129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								29	154					0	0	1	0	0	T	79633606	C	T	79633606	3	4	22	1	0	0	0	0	1	0	0	0	9201	797	28	2	1029	2	MAF	16	79633606	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168	79633606	10721147	15984	18130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:80718665T>C	ENST00000299564.8	-	2	541	c.386A>G	c.(385-387)gAc>gGc	p.D129G	CDYL2_ENST00000563890.1_Missense_Mutation_p.D129G|CDYL2_ENST00000562812.1_Missense_Mutation_p.D129G|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Missense_Mutation_p.D129G	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	129						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													77	337					0	0	1	0	0	C	80718665	T	C	80718665	3	2	22	1	0	0	0	0	1	0	0	0	3208	1667	58	3	1158	3	CDYL2	16	80718665	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1085059	80718665	9636088	15985	18131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:80718807G>A	ENST00000299564.8	-	2	399	c.244C>T	c.(244-246)Cga>Tga	p.R82*	CDYL2_ENST00000563890.1_Nonsense_Mutation_p.R82*|CDYL2_ENST00000562812.1_Nonsense_Mutation_p.R82*|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Nonsense_Mutation_p.R82*	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	82						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													75	338					0	0	1	0	0	A	80718807	G	A	80718807	4	1	22	1	0	0	0	0	0	1	0	0	3208	1066	37	1	1300	1	CDYL2	16	80718807	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	142	80718807	9635946	15986	18132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000299575.4_Missense_Mutation_p.A340D|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.A184D			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													132	388					3.21211e-60	4.03831e-60	1	1	0	A	81077122	C	A	81077122	3	1	22	1	0	0	0	0	1	0	0	0	1109	797	28	2	1033	2	ATMIN	16	81077122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	358315	81077122	9277631	15987	18133											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000299575.4_Missense_Mutation_p.F641L|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.F485L			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													65	328					3.40165e-17	3.75177e-17	1	1	0	A	81078026	C	A	81078026	3	1	22	1	0	0	0	0	1	0	0	0	1109	912	32	2	1937	2	ATMIN	16	81078026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	904	81078026	9276727	15988	18134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81097352G>A	ENST00000378611.4	-	2	324	c.210_splice	c.e2+1	p.A70_splice	C16orf46_ENST00000299578.5_Splice_Site_p.A70_splice|C16orf46_ENST00000444657.3_Intron|RP11-303E16.8_ENST00000564536.1_RNA	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													109	308					0	0	1	0	0	A	81097352	G	A	81097352	5	1	22	1	0	0	0	0	0	0	1	0	1822	1333	46	2	1014	2	C16orf46	16	81097352	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19326	81097352	9257401	15989	18135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81164153G>A	ENST00000525539.1	-	0	5953				PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	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													12	65					0	0	1	0	0	A	81164153	G	A	81164153	1	1	22	0	1	0	0	0	0	0	0	0	12013	1261	44	2		2	PKD1L2	16	81164153	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66801	81164153	9190600	15990	18136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81181859A>C	ENST00000525539.1	-	0	4856				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	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													54	252					0	0	1	0	0	C	81181859	A	C	81181859	1	2	22	0	1	0	0	0	0	0	0	0	12013	262	10	3		3	PKD1L2	16	81181859	RNA	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17706	81181859	9172894	15991	18137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81183400C>T	ENST00000525539.1	-	0	4647				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	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													42	143					0	0	1	0	0	T	81183400	C	T	81183400	1	4	22	0	1	0	0	0	0	0	0	0	12013	536	19	1		1	PKD1L2	16	81183400	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1541	81183400	9171353	15992	18138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81198334T>G	ENST00000525539.1	-	0	3259				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	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													94	271					0	0	1	0	0	G	81198334	T	G	81198334	1	3	22	0	1	0	0	0	0	0	0	0	12013	1435	50	3		3	PKD1L2	16	81198334	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14934	81198334	9156419	15993	18139											
PKD1L2	114780	broad.mit.edu	37	chr16	81248637	81248637	+	Missense_Mutation	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81248637G>A	ENST00000599697.1	-	3	625	c.626C>T	c.(625-627)gCc>gTc	p.A209V	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	209	SUEL-type lectin.				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)	11	59					0	0	1	0	0	A	81248637	G	A	81248637	3	1	22	1	0	0	0	0	1	0	0	0	12013	1203	42	2	6986	2	PKD1L2	16	81248637	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50303	81248637	9106116	15994	18140											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													157	424					0	0	1	0	0	G	81298250	T	G	81298250	3	3	22	1	0	0	0	0	1	0	0	0	1382	1490	52	3	495	3	BCMO1	16	81298250	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49613	81298250	9056503	15995	18141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	555					0	0	1	0	0	A	81303878	G	A	81303878	3	1	22	1	0	0	0	0	1	0	0	0	1382	1145	40	1	984	1	BCMO1	16	81303878	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5628	81303878	9050875	15996	18142											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81385228A>G	ENST00000248272.3	+	2	370	c.208A>G	c.(208-210)Act>Gct	p.T70A		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	70	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													102	286					0	0	1	0	0	G	81385228	A	G	81385228	3	3	22	1	0	0	0	0	1	0	0	0	6272	43	2	3	214	3	GAN	16	81385228	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	81350	81385228	8969525	15997	18143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81391435C>T	ENST00000248272.3	+	5	1034	c.872C>T	c.(871-873)gCg>gTg	p.A291V		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	291					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													132	721					0	0	1	0	0	T	81391435	C	T	81391435	3	4	22	1	0	0	0	0	1	0	0	0	6272	768	27	1	890	1	GAN	16	81391435	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6207	81391435	8963318	15998	18144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81399055T>C	ENST00000248272.3	+	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	492					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													194	643					0	0	1	0	0	C	81399055	T	C	81399055	3	2	22	1	0	0	0	0	1	0	0	0	6272	1667	58	3	1508	3	GAN	16	81399055	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7620	81399055	8955698	15999	18145											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398040.4_Silent_p.S55S|CMIP_ENST00000566513.1_3'UTR|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													103	236					0	0	1	0	0	A	81685954	G	A	81685954	2	1	22	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	16000	18146											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398040.4_Missense_Mutation_p.L144F|CMIP_ENST00000566513.1_3'UTR|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													12	65					0	0	1	0	0	T	81703810	C	T	81703810	3	4	22	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	16001	18147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398040.4_Silent_p.L560L|CMIP_ENST00000566513.1_3'UTR|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													24	81					0	0	1	0	0	T	81739151	C	T	81739151	2	4	22	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	16002	18148											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	131					0	0	1	0	0	C	81939093	T	C	81939093	3	2	22	1	0	0	0	0	1	0	0	0	12084	1464	51	3	1502	3	PLCG2	16	81939093	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	199942	81939093	8415660	16003	18149											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	157					6.2361e-21	7.00342e-21	1	1	0	A	81942147	C	A	81942147	3	1	22	1	0	0	0	0	1	0	0	0	12084	680	24	2	1746	2	PLCG2	16	81942147	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3054	81942147	8412606	16004	18150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													219	1008					0	0	1	0	0	A	81944315	G	A	81944315	3	1	22	1	0	0	0	0	1	0	0	0	12084	1059	37	1	1990	1	PLCG2	16	81944315	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2168	81944315	8410438	16005	18151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	299					0	0	1	0	0	A	81969845	G	A	81969845	3	1	22	1	0	0	0	0	1	0	0	0	12084	1145	40	1	3016	1	PLCG2	16	81969845	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25530	81969845	8384908	16006	18152											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	86					0	0	1	0	0	T	81972512	C	T	81972512	3	4	22	1	0	0	0	0	1	0	0	0	12084	536	19	1	3415	1	PLCG2	16	81972512	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2667	81972512	8382241	16007	18153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													162	490					0	0	1	0	0	T	81979814	C	T	81979814	2	4	22	1	0	0	0	0	0	0	0	1	12084	767	27	1		1	PLCG2	16	81979814	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7302	81979814	8374939	16008	18154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	258					0	0	1	0	0	T	82069166	C	T	82069166	3	4	22	1	0	0	0	0	1	0	0	0	7425	710	25	2	139	2	HSD17B2	16	82069166	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89352	82069166	8285587	16009	18155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	483					0	0	1	0	0	A	82131894	G	A	82131894	2	1	22	1	0	0	0	0	0	0	0	1	7425	1074	38	1		1	HSD17B2	16	82131894	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62728	82131894	8222859	16010	18156											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000268613.10_Nonsense_Mutation_p.E303*|CDH13_ENST00000428848.3_Nonsense_Mutation_p.E217*|CDH13_ENST00000569454.1_3'UTR	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													17	471					1.00905e-13	1.09121e-13	1	1	0	T	83378596	G	T	83378596	4	4	22	1	0	0	0	0	0	1	0	0	3121	1175	41	2	788	2	CDH13	16	83378596	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1246702	83378596	6976157	16011	18157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000268613.10_Silent_p.I460I|CDH13_ENST00000428848.3_Silent_p.I374I	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													57	674					0	0	1	0	0	T	83704532	C	T	83704532	2	4	22	1	0	0	0	0	0	0	0	1	3121	845	30	2		2	CDH13	16	83704532	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325936	83704532	6650221	16012	18158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393306.1_Silent_p.I29I|OSGIN1_ENST00000361711.3_Silent_p.I29I|OSGIN1_ENST00000565123.1_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													18	530					1.01871e-10	1.082e-10	1	1	0	A	83992884	C	A	83992884	2	1	22	1	0	0	0	0	0	0	0	1	11336	903	32	2		2	OSGIN1	16	83992884	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	288352	83992884	6361869	16013	18159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393306.1_Missense_Mutation_p.V154G|OSGIN1_ENST00000361711.3_Missense_Mutation_p.V154G|OSGIN1_ENST00000565123.1_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													69	326					0	0	1	0	0	G	83994650	T	G	83994650	3	3	22	1	0	0	0	0	1	0	0	0	11336	1667	58	3	732	3	OSGIN1	16	83994650	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1766	83994650	6360103	16014	18160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	350					0	0	1	0	0	A	83999313	G	A	83999313	3	1	22	1	0	0	0	0	1	0	0	0	11336	1174	41	2	1410	2	OSGIN1	16	83999313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4663	83999313	6355440	16015	18161											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	265					0	0	1	0	0	T	84050168	C	T	84050168	3	4	22	1	0	0	0	0	1	0	0	0	14665	797	28	2	201	2	SLC38A8	16	84050168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50855	84050168	6304585	16016	18162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	196					0	0	1	0	0	T	84056428	C	T	84056428	3	4	22	1	0	0	0	0	1	0	0	0	14665	507	18	2	570	2	SLC38A8	16	84056428	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6260	84056428	6298325	16017	18163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	160					0	0	1	0	0	C	84056464	T	C	84056464	3	2	22	1	0	0	0	0	1	0	0	0	14665	1580	55	3	606	3	SLC38A8	16	84056464	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	36	84056464	6298289	16018	18164	117	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	151					0	0	1	0	0	C	84056473	T	C	84056473	3	2	22	1	0	0	0	0	1	0	0	0	14665	1464	51	3	615	3	SLC38A8	16	84056473	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9	84056473	6298280	16019	18165	117	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	146					0	0	1	0	0	A	84056480	G	A	84056480	2	1	22	1	0	0	0	0	0	0	0	1	14665	1103	39	1		1	SLC38A8	16	84056480	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7	84056480	6298273	16020	18166	117	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													131	402					0	0	1	0	0	C	84104310	T	C	84104310	2	2	22	1	0	0	0	0	0	0	0	1	9411	1403	49	3		3	MBTPS1	16	84104310	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47830	84104310	6250443	16021	18167											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	408					0	0	1	0	0	T	84115363	C	T	84115363	2	4	22	1	0	0	0	0	0	0	0	1	9411	796	28	2		2	MBTPS1	16	84115363	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11053	84115363	6239390	16022	18168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	623					0	0	1	0	0	T	84129262	C	T	84129262	2	4	22	1	0	0	0	0	0	0	0	1	9411	755	27	1		1	MBTPS1	16	84129262	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13899	84129262	6225491	16023	18169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													119	570					0	0	1	0	0	T	84132743	C	T	84132743	2	4	22	1	0	0	0	0	0	0	0	1	9411	639	23	1		1	MBTPS1	16	84132743	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3481	84132743	6222010	16024	18170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	555					0	0	1	0	0	C	84132819	A	C	84132819	3	2	22	1	0	0	0	0	1	0	0	0	9411	101	4	3	2982	3	MBTPS1	16	84132819	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	76	84132819	6221934	16025	18171											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541676.1_Missense_Mutation_p.L624I|TAF1C_ENST00000570117.1_Missense_Mutation_p.L385I|TAF1C_ENST00000378541.4_Missense_Mutation_p.L717I|TAF1C_ENST00000341690.6_Missense_Mutation_p.L623I|TAF1C_ENST00000566732.1_Missense_Mutation_p.L691I	NM_005679.3	NP_005670.3	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													22	274					1.10923e-09	1.16946e-09	1	1	0	T	84213008	G	T	84213008	3	4	22	1	0	0	0	0	1	0	0	0	15578	971	34	2	464	2	TAF1C	16	84213008	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80189	84213008	6141745	16026	18172											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541676.1_Missense_Mutation_p.R296C|TAF1C_ENST00000570117.1_Missense_Mutation_p.R57C|TAF1C_ENST00000378541.4_Missense_Mutation_p.R389C|TAF1C_ENST00000341690.6_Missense_Mutation_p.R296C|TAF1C_ENST00000566732.1_Missense_Mutation_p.R363C	NM_005679.3	NP_005670.3	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													44	162					0	0	1	0	0	A	84215011	G	A	84215011	3	1	22	1	0	0	0	0	1	0	0	0	15578	1087	38	1	1464	1	TAF1C	16	84215011	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2003	84215011	6139742	16027	18173	118	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541676.1_Silent_p.S292S|TAF1C_ENST00000570117.1_Silent_p.S53S|TAF1C_ENST00000378541.4_Silent_p.S385S|TAF1C_ENST00000341690.6_Silent_p.S292S|TAF1C_ENST00000566732.1_Silent_p.S359S	NM_005679.3	NP_005670.3	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													36	171					7.04047e-22	7.94894e-22	1	1	0	T	84215021	G	T	84215021	2	4	22	1	0	0	0	0	0	0	0	1	15578	987	35	2		2	TAF1C	16	84215021	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10	84215021	6139732	16028	18174	118	2									
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	274					0	0	1	0	0	C	84256170	T	C	84256170	3	2	22	1	0	0	0	0	1	0	0	0	8074	1464	51	3	348	3	KCNG4	16	84256170	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41149	84256170	6098583	16029	18175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	310					0	0	1	0	0	T	84270731	C	T	84270731	3	4	22	1	0	0	0	0	1	0	0	0	8074	652	23	1	1204	1	KCNG4	16	84270731	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14561	84270731	6084022	16030	18176											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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													96	247					0	0	1	0	0	T	84353101	C	T	84353101	2	4	22	1	0	0	0	0	0	0	0	1	17406	747	26	2		2	WFDC1	16	84353101	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82370	84353101	6001652	16031	18177	119	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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													42	308					0	0	1	0	0	T	84353108	C	T	84353108	2	4	22	1	0	0	0	0	0	0	0	1	17406	680	24	2		2	WFDC1	16	84353108	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7	84353108	6001645	16032	18178	119	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	159					0	0	1	0	0	T	84442094	C	T	84442094	2	4	22	1	0	0	0	0	0	0	0	1	1143	874	31	1		1	ATP2C2	16	84442094	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88986	84442094	5912659	16033	18179											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													245	860					0	0	1	0	0	T	84459343	C	T	84459343	3	4	22	1	0	0	0	0	1	0	0	0	1143	913	32	2	964	2	ATP2C2	16	84459343	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17249	84459343	5895410	16034	18180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	841					7.81431e-29	9.11102e-29	1	1	0	A	84485577	C	A	84485577	3	1	22	1	0	0	0	0	1	0	0	0	1143	913	32	2	1781	2	ATP2C2	16	84485577	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26234	84485577	5869176	16035	18181											
COTL1	23406	broad.mit.edu	37	chr16	84600451	84600451	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtggcgggggctggggTtactccgtctgggcgtcgta	20	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84600451T>G	ENST00000262428.4	-	4	591	c.429A>C	c.(427-429)taA>taC	p.*143Y	COTL1_ENST00000567278.1_5'UTR|COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	0						cytoplasm|cytoskeleton	actin binding|enzyme binding			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GGGGCTGGGGTTACTCCGTCT	0.622													10	148					0	0	1	0	0	G	84600451	T	G	84600451	4	3	22	1	0	0	0	0	0	0	0	0	3784	1732	60	3	3	3	COTL1	16	84600451	Nonstop_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	114874	84600451	5754302	16036	18182											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	282					0	0	1	0	0	A	84690700	G	A	84690700	3	1	22	1	0	0	0	0	1	0	0	0	8432	1232	43	2	293	2	KLHL36	16	84690700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90249	84690700	5664053	16037	18183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	220					0	0	1	0	0	T	84691069	C	T	84691069	3	4	22	1	0	0	0	0	1	0	0	0	8432	536	19	1	662	1	KLHL36	16	84691069	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	369	84691069	5663684	16038	18184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	127					0	0	1	0	0	T	84691332	C	T	84691332	3	4	22	1	0	0	0	0	1	0	0	0	8432	759	27	1	925	1	KLHL36	16	84691332	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	263	84691332	5663421	16039	18185											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	239					0	0	1	0	0	T	84695391	C	T	84695391	2	4	22	1	0	0	0	0	0	0	0	1	8432	767	27	1		1	KLHL36	16	84695391	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4059	84695391	5659362	16040	18186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000564466.1_Missense_Mutation_p.L70M|ZDHHC7_ENST00000569488.1_5'UTR	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													31	164					7.68411e-24	8.75532e-24	1	1	0	T	85024017	G	T	85024017	3	4	22	1	0	0	0	0	1	0	0	0	17678	962	34	2	857	2	ZDHHC7	16	85024017	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	328626	85024017	5330736	16041	18187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	478					0	0	1	0	0	A	85712255	G	A	85712255	3	1	22	1	0	0	0	0	1	0	0	0	6430	1116	39	1	242	1	GINS2	16	85712255	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	688238	85712255	4642498	16042	18188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85840345G>A	ENST00000562336.1	+	5	568	c.373_splice	c.e5-1	p.V125_splice	COX4I1_ENST00000561569.1_Splice_Site_p.V125_splice|COX4I1_ENST00000568794.1_3'UTR|COX4I1_ENST00000253452.2_Splice_Site_p.V125_splice|COX4I1_ENST00000564903.1_3'UTR			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													16	406					0	0	1	0	0	A	85840345	G	A	85840345	5	1	22	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	16043	18189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	229					0	0	1	0	0	A	85952190	G	A	85952190	3	1	22	1	0	0	0	0	1	0	0	0	7880	1087	38	1	791	1	IRF8	16	85952190	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111845	85952190	4402563	16044	18190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													156	427					0	0	1	0	0	A	85954818	G	A	85954818	3	1	22	1	0	0	0	0	1	0	0	0	7880	1116	39	1	1241	1	IRF8	16	85954818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2628	85954818	4399935	16045	18191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	23					0	0	1	0	0	T	86544232	C	T	86544232	2	4	22	1	0	0	0	0	0	0	0	1	6039	755	27	1		1	FOXF1	16	86544232	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	589414	86544232	3810521	16046	18192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	60					0	0	1	0	0	T	86545078	C	T	86545078	2	4	22	1	0	0	0	0	0	0	0	1	6039	639	23	1		1	FOXF1	16	86545078	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	846	86545078	3809675	16047	18193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				128	337					3.21211e-60	4.03831e-60	1	1	0	A	86601141	C	A	86601141	3	1	22	1	0	0	0	0	1	0	0	0	6028	681	24	2	202	2	FOXC2	16	86601141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56063	86601141	3753612	16048	18194											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				42	797					0	0	1	0	0	A	86601231	G	A	86601231	3	1	22	1	0	0	0	0	1	0	0	0	6028	1203	42	2	292	2	FOXC2	16	86601231	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90	86601231	3753522	16049	18195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				15	717					1.49906e-05	1.53515e-05	1	1	0	A	86601383	C	A	86601383	3	1	22	1	0	0	0	0	1	0	0	0	6028	680	24	2	444	2	FOXC2	16	86601383	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152	86601383	3753370	16050	18196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_024735.3	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													51	259					0	0	1	0	0	T	87364932	C	T	87364932	3	4	22	1	0	0	0	0	1	0	0	0	5774	884	31	1	41	1	FBXO31	16	87364932	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	763549	87364932	2989821	16051	18197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_024735.3	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													20	94					0	0	1	0	0	G	87377229	T	G	87377229	3	3	22	1	0	0	0	0	1	0	0	0	5774	1841	64	3	1011	3	FBXO31	16	87377229	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12297	87377229	2977524	16052	18198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	396					0	0	1	0	0	T	87445750	C	T	87445750	2	4	22	1	0	0	0	0	0	0	0	1	17642	523	19	1		1	ZCCHC14	16	87445750	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68521	87445750	2909003	16053	18199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	431					0	0	1	0	0	T	87446179	C	T	87446179	2	4	22	1	0	0	0	0	0	0	0	1	17642	639	23	1		1	ZCCHC14	16	87446179	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	429	87446179	2908574	16054	18200											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	336					3.31162e-33	3.92088e-33	1	1	0	A	87448966	C	A	87448966	3	1	22	1	0	0	0	0	1	0	0	0	17642	797	28	2	1889	2	ZCCHC14	16	87448966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2787	87448966	2905787	16055	18201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													179	478					0	0	1	0	0	T	87677922	C	T	87677922	2	4	22	1	0	0	0	0	0	0	0	1	8006	767	27	1		1	JPH3	16	87677922	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	228956	87677922	2676831	16056	18202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													143	357					0	0	1	0	0	A	87678325	G	A	87678325	3	1	22	1	0	0	0	0	1	0	0	0	8006	1087	38	1	850	1	JPH3	16	87678325	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	403	87678325	2676428	16057	18203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	302					0	0	1	0	0	A	87678515	G	A	87678515	3	1	22	1	0	0	0	0	1	0	0	0	8006	1203	42	2	1040	2	JPH3	16	87678515	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190	87678515	2676238	16058	18204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000347925.5_Missense_Mutation_p.R310C|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.R284C	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													60	376					0	0	1	0	0	A	87744864	G	A	87744864	3	1	22	1	0	0	0	0	1	0	0	0	8401	1116	39	1	553	1	KLHDC4	16	87744864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66349	87744864	2609889	16059	18205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000347925.5_Intron|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.L134M	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													133	470					4.54241e-80	5.80792e-80	1	1	0	T	87764186	G	T	87764186	3	4	22	1	0	0	0	0	1	0	0	0	8401	991	35	2	1015	2	KLHDC4	16	87764186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19322	87764186	2590567	16060	18206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000347925.5_Intron|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.R124Q	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													32	553					0	0	1	0	0	T	87764215	C	T	87764215	3	4	22	1	0	0	0	0	1	0	0	0	8401	652	23	1	1044	1	KLHDC4	16	87764215	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29	87764215	2590538	16061	18207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	44					0	0	1	0	0	C	87868172	A	C	87868172	3	2	22	1	0	0	0	0	1	0	0	0	14755	246	9	3	215	3	SLC7A5	16	87868172	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	103957	87868172	2486581	16062	18208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	424					9.5628e-27	1.10398e-26	1	1	0	T	87874675	G	T	87874675	3	4	22	1	0	0	0	0	1	0	0	0	14755	1000	35	2	804	2	SLC7A5	16	87874675	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6503	87874675	2480078	16063	18209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393208.2_Silent_p.P333P|BANP_ENST00000355022.4_Silent_p.P333P|BANP_ENST00000479780.2_Silent_p.P333P|BANP_ENST00000355163.5_Silent_p.P339P|BANP_ENST00000286122.7_Silent_p.P364P|BANP_ENST00000538234.1_Silent_p.P372P	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													10	199					0	0	1	0	0	A	88066767	G	A	88066767	2	1	22	1	0	0	0	0	0	0	0	1	1308	1074	38	1		1	BANP	16	88066767	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192092	88066767	2287986	16064	18210											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	56					0	0	1	0	0	T	88600853	C	T	88600853	2	4	22	1	0	0	0	0	0	0	0	1	17715	871	31	1		1	ZFPM1	16	88600853	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534086	88600853	1753900	16065	18211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	139					0	0	1	0	0	A	88601210	G	A	88601210	2	1	22	1	0	0	0	0	0	0	0	1	17715	1074	38	1		1	ZFPM1	16	88601210	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	357	88601210	1753543	16066	18212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	157					0	0	1	0	0	T	88643732	C	T	88643732	2	4	22	1	0	0	0	0	0	0	0	1	17627	639	23	1		1	ZC3H18	16	88643732	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42522	88643732	1711021	16067	18213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	158					0	0	1	0	0	T	88643861	C	T	88643861	2	4	22	1	0	0	0	0	0	0	0	1	17627	767	27	1		1	ZC3H18	16	88643861	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129	88643861	1710892	16068	18214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	18					0	0	1	0	0	T	88677771	C	T	88677771	2	4	22	1	0	0	0	0	0	0	0	1	17627	755	27	1		1	ZC3H18	16	88677771	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33910	88677771	1676982	16069	18215	120	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	19					0	0	1	0	0	T	88677775	C	T	88677775	4	4	22	1	0	0	0	0	0	1	0	0	17627	760	27	1	1332	1	ZC3H18	16	88677775	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4	88677775	1676978	16070	18216	120	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	182					0	0	1	0	0	A	88688650	G	A	88688650	2	1	22	1	0	0	0	0	0	0	0	1	17627	1074	38	1		1	ZC3H18	16	88688650	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10875	88688650	1666103	16071	18217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													127	521					0	0	1	0	0	A	88690390	G	A	88690390	2	1	22	1	0	0	0	0	0	0	0	1	17627	1132	40	1		1	ZC3H18	16	88690390	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1740	88690390	1664363	16072	18218											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	216					2.93434e-44	3.58945e-44	1	1	0	T	88691101	G	T	88691101	3	4	22	1	0	0	0	0	1	0	0	0	17627	942	33	2	2032	2	ZC3H18	16	88691101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	711	88691101	1663652	16073	18219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	64					0.00909568	0.00914726	1	1	0	T	88706252	G	T	88706252	3	4	22	1	0	0	0	0	1	0	0	0	7680	933	33	2	376	2	IL17C	16	88706252	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15151	88706252	1648501	16074	18220											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	56					0	0	1	0	0	T	88706264	C	T	88706264	2	4	22	1	0	0	0	0	0	0	0	1	7680	883	31	1		1	IL17C	16	88706264	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12	88706264	1648489	16075	18221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	73					0	0	1	0	0	T	88721747	C	T	88721747	3	4	22	1	0	0	0	0	1	0	0	0	10042	768	27	1	461	1	MVD	16	88721747	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15483	88721747	1633006	16076	18222											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	146					0	0	1	0	0	A	88723885	G	A	88723885	3	1	22	1	0	0	0	0	1	0	0	0	10042	971	34	2	868	2	MVD	16	88723885	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2138	88723885	1630868	16077	18223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	201					0	0	1	0	0	T	88744989	C	T	88744989	3	4	22	1	0	0	0	0	1	0	0	0	14882	768	27	1	136	1	SNAI3	16	88744989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21104	88744989	1609764	16078	18224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	827					0	0	1	0	0	T	88747821	C	T	88747821	2	4	22	1	0	0	0	0	0	0	0	1	14882	871	31	1		1	SNAI3	16	88747821	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2832	88747821	1606932	16079	18225											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378384.3_Missense_Mutation_p.G105D|CTU2_ENST00000453996.2_Missense_Mutation_p.G192D|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													36	164					0	0	1	0	0	A	88779151	G	A	88779151	3	1	22	1	0	0	0	0	1	0	0	0	4071	1261	44	2	601	2	CTU2	16	88779151	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31330	88779151	1575602	16080	18226											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	99					0	0	1	0	0	A	88872999	G	A	88872999	3	1	22	1	0	0	0	0	1	0	0	0	3202	1087	38	1	1065	1	CDT1	16	88872999	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93848	88872999	1481754	16081	18227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000301021.3_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000567312.1_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000561840.1_Intron|TRAPPC2L_ENST00000567895.1_Intron|TRAPPC2L_ENST00000568583.1_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000564365.1_5'UTR			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)	269	743					0	0	1	0	0	A	88925046	G	A	88925046	3	1	22	1	0	0	0	0	1	0	0	0	16520	1087	38	1	59	1	TRAPPC2L	16	88925046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52047	88925046	1429707	16082	18228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360302.2_Missense_Mutation_p.R428C|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R438C|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R476C|CBFA2T3_ENST00000327483.5_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								8	369					0	0	1	0	0	A	88945800	G	A	88945800	3	1	22	1	0	0	0	0	1	0	0	0	2716	1087	38	1	429	1	CBFA2T3	16	88945800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20754	88945800	1408953	16083	18229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360302.2_Missense_Mutation_p.R277W|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R287W|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R325W|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R277W|RP11-830F9.5_ENST00000565053.1_RNA	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								69	158					0	0	1	0	0	A	88951484	G	A	88951484	3	1	22	1	0	0	0	0	1	0	0	0	2716	1115	39	1	898	1	CBFA2T3	16	88951484	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5684	88951484	1403269	16084	18230											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_174917.3	NP_001120686.1|NP_001230208.1|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													64	260					0	0	1	0	0	A	89167209	G	A	89167209	2	1	22	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	16085	18231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_174917.3	NP_001120686.1|NP_001230208.1|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													55	288					0	0	1	0	0	A	89167319	G	A	89167319	3	1	22	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	16086	18232											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_174917.3	NP_001120686.1|NP_001230208.1|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													24	359					0	0	1	0	0	T	89167347	C	T	89167347	2	4	22	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	16087	18233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_174917.3	NP_001120686.1|NP_001230208.1|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													18	150					0	0	1	0	0	A	89167414	G	A	89167414	3	1	22	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	16088	18234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	92					1.59932e-28	1.86161e-28	1	1	0	A	89256724	C	A	89256724	3	1	22	1	0	0	0	0	1	0	0	0	3122	797	28	2	1082	2	CDH15	16	89256724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89310	89256724	1098029	16089	18235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	138					0	0	1	0	0	T	89256765	C	T	89256765	3	4	22	1	0	0	0	0	1	0	0	0	3122	710	25	2	1123	2	CDH15	16	89256765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41	89256765	1097988	16090	18236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	70					1.22574e-08	1.28258e-08	1	1	0	T	89256843	G	T	89256843	3	4	22	1	0	0	0	0	1	0	0	0	3122	1000	35	2	1201	2	CDH15	16	89256843	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78	89256843	1097910	16091	18237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													119	352					0	0	1	0	0	A	89341252	G	A	89341252	2	1	22	1	0	0	0	0	0	0	0	1	635	1103	39	1		1	ANKRD11	16	89341252	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84409	89341252	1013501	16092	18238											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	445					1.5739e-10	1.67034e-10	1	1	0	T	89341273	G	T	89341273	2	4	22	1	0	0	0	0	0	0	0	1	635	987	35	2		2	ANKRD11	16	89341273	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	89341273	1013480	16093	18239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	148					0	0	1	0	0	T	89345738	C	T	89345738	2	4	22	1	0	0	0	0	0	0	0	1	635	755	27	1		1	ANKRD11	16	89345738	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4465	89345738	1009015	16094	18240											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	147					0	0	1	0	0	A	89346638	G	A	89346638	2	1	22	1	0	0	0	0	0	0	0	1	635	1136	40	1		1	ANKRD11	16	89346638	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	900	89346638	1008115	16095	18241	121	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	184					3.83957e-06	3.94984e-06	1	1	0	T	89346643	G	T	89346643	3	4	22	1	0	0	0	0	1	0	0	0	635	991	35	2	1704	2	ANKRD11	16	89346643	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	89346643	1008110	16096	18242	121	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	334					0	0	1	0	0	A	89347194	G	A	89347194	3	1	22	1	0	0	0	0	1	0	0	0	635	1087	38	1	2255	1	ANKRD11	16	89347194	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	551	89347194	1007559	16097	18243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	352					0	0	1	0	0	T	89347666	C	T	89347666	3	4	22	1	0	0	0	0	1	0	0	0	635	884	31	1	2727	1	ANKRD11	16	89347666	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	472	89347666	1007087	16098	18244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	464					0	0	1	0	0	G	89348197	T	G	89348197	2	3	22	1	0	0	0	0	0	0	0	1	635	1550	54	3		3	ANKRD11	16	89348197	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	531	89348197	1006556	16099	18245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	236					0	0	1	0	0	A	89348524	G	A	89348524	3	1	22	1	0	0	0	0	1	0	0	0	635	1319	46	2	3585	2	ANKRD11	16	89348524	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	327	89348524	1006229	16100	18246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	427					0	0	1	0	0	T	89349137	C	T	89349137	2	4	22	1	0	0	0	0	0	0	0	1	635	871	31	1		1	ANKRD11	16	89349137	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	613	89349137	1005616	16101	18247											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	185					0	0	1	0	0	C	89350530	A	C	89350530	3	2	22	1	0	0	0	0	1	0	0	0	635	43	2	3	5591	3	ANKRD11	16	89350530	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1393	89350530	1004223	16102	18248											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	721					0	0	1	0	0	G	89357207	A	G	89357207	3	3	22	1	0	0	0	0	1	0	0	0	635	275	10	3	7596	3	ANKRD11	16	89357207	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6677	89357207	997546	16103	18249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000563291.1_Silent_p.G47G|ANKRD11_ENST00000567736.1_5'UTR|ANKRD11_ENST00000378330.2_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													100	272					0	0	1	0	0	A	89371699	G	A	89371699	2	1	22	1	0	0	0	0	0	0	0	1	635	1074	38	1		1	ANKRD11	16	89371699	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14492	89371699	983054	16104	18250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	347					0	0	1	0	0	T	89598955	C	T	89598955	3	4	22	1	0	0	0	0	1	0	0	0	15100	768	27	1	1269	1	SPG7	16	89598955	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227256	89598955	755798	16105	18251											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	141					0	0	1	0	0	A	89619414	G	A	89619414	3	1	22	1	0	0	0	0	1	0	0	0	15100	1087	38	1	2011	1	SPG7	16	89619414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20459	89619414	735339	16106	18252											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89703612C>T	ENST00000393092.3	+	7	883	c.591_splice	c.e7-1	p.R198_splice	DPEP1_ENST00000261615.4_Splice_Site_p.R198_splice|DPEP1_ENST00000421184.1_Splice_Site_p.R198_splice	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													15	411					0	0	1	0	0	T	89703612	C	T	89703612	5	4	22	1	0	0	0	0	0	0	1	0	4740	782	27	1	614	1	DPEP1	16	89703612	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84198	89703612	651141	16107	18253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397901.3_3'UTR|CHMP1A_ENST00000535997.2_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													21	114					0	0	1	0	0	A	89712332	G	A	89712332	3	1	22	1	0	0	0	0	1	0	0	0	3374	1087	38	1	13	1	CHMP1A	16	89712332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8720	89712332	642421	16108	18254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397901.3_3'UTR|CHMP1A_ENST00000535997.2_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													52	141					0	0	1	0	0	A	89712424	G	A	89712424	2	1	22	1	0	0	0	0	0	0	0	1	3374	958	34	2		2	CHMP1A	16	89712424	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92	89712424	642329	16109	18255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	305					0	0	1	0	0	T	89758865	C	T	89758865	2	4	22	1	0	0	0	0	0	0	0	1	3147	718	25	2		2	CDK10	16	89758865	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46441	89758865	595888	16110	18256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	233					2.34548e-53	2.9228e-53	1	1	0	T	89759861	G	T	89759861	3	4	22	1	0	0	0	0	1	0	0	0	3147	991	35	2	624	2	CDK10	16	89759861	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	996	89759861	594892	16111	18257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	69					0	0	1	0	0	T	89764195	C	T	89764195	2	4	22	1	0	0	0	0	0	0	0	1	15065	610	22	2		2	SPATA2L	16	89764195	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4334	89764195	590558	16112	18258											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	154					0	0	1	0	0	A	89764461	G	A	89764461	3	1	22	1	0	0	0	0	1	0	0	0	15065	1144	40	1	722	1	SPATA2L	16	89764461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	266	89764461	590292	16113	18259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89807275C>T	ENST00000389301.3	-	38	3796		c.e38-1		FANCA_ENST00000568369.1_Splice_Site|ZNF276_ENST00000289816.5_3'UTR	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				14	119					0	0	1	0	0	T	89807275	C	T	89807275	5	4	22	1	0	0	0	0	0	0	1	0	5695	811	28	2	626	2	FANCA	16	89807275	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42814	89807275	547478	16114	18260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				46	175					0	0	1	0	0	A	89815125	G	A	89815125	3	1	22	1	0	0	0	0	1	0	0	0	5695	1319	46	2	1121	2	FANCA	16	89815125	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7850	89815125	539628	16115	18261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	64					0	0	1	0	0	C	89971399	T	C	89971399	3	2	22	1	0	0	0	0	1	0	0	0	15753	1841	64	3	1577	3	TCF25	16	89971399	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	156274	89971399	383354	16116	18262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													130	285					2.67195e-58	3.35052e-58	1	1	0	A	89977554	C	A	89977554	3	1	22	1	0	0	0	0	1	0	0	0	15753	796	28	2	2009	2	TCF25	16	89977554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6155	89977554	377199	16117	18263											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	435					0	0	1	0	0	T	89977587	C	T	89977587	3	4	22	1	0	0	0	0	1	0	0	0	15753	681	24	2	2042	2	TCF25	16	89977587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	89977587	377166	16118	18264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000555576.1_Silent_p.E27E|TUBB3_ENST00000554336.1_Silent_p.E27E|TUBB3_ENST00000304984.5_5'UTR|TUBB3_ENST00000553967.1_Silent_p.E27E|TUBB3_ENST00000554444.1_5'UTR|TUBB3_ENST00000315491.7_Silent_p.E27E			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													68	247					0	0	1	0	0	A	89999002	G	A	89999002	2	1	22	1	0	0	0	0	0	0	0	1	16819	962	34	2		2	TUBB3	16	89999002	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21415	89999002	355751	16119	18265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000555576.1_Intron|TUBB3_ENST00000554444.1_Missense_Mutation_p.R179C|TUBB3_ENST00000315491.7_Missense_Mutation_p.R251C|TUBB3_ENST00000556922.1_Missense_Mutation_p.R598C			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													122	348					0	0	1	0	0	T	90001610	C	T	90001610	3	4	22	1	0	0	0	0	1	0	0	0	16819	768	27	1	765	1	TUBB3	16	90001610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2608	90001610	353143	16120	18266											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000268676.7_Intron|DEF8_ENST00000563594.1_Intron|DEF8_ENST00000563795.1_Intron|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000563848.1_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000569453.1_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													47	201					0	0	1	0	0	T	90025581	C	T	90025581	4	4	22	1	0	0	0	0	0	1	0	0	4410	528	19	1	733	1	DEF8	16	90025581	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23971	90025581	329172	16121	18267											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000268676.7_Missense_Mutation_p.C234R|DEF8_ENST00000563795.1_Missense_Mutation_p.C173R|DEF8_ENST00000567874.1_Missense_Mutation_p.C113R|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000570182.1_Missense_Mutation_p.C163R|DEF8_ENST00000569453.1_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													208	616					0	0	1	0	0	C	90027341	T	C	90027341	3	2	22	1	0	0	0	0	1	0	0	0	4410	1696	59	3	802	3	DEF8	16	90027341	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1760	90027341	327412	16122	18268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536122.1_Silent_p.I34I|GAS8_ENST00000540721.1_3'UTR	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													13	204					1.5842e-08	1.65642e-08	1	1	0	A	90097793	C	A	90097793	2	1	22	1	0	0	0	0	0	0	0	1	6291	845	30	2		2	GAS8	16	90097793	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70452	90097793	256960	16123	18269											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536122.1_Silent_p.T143T|GAS8_ENST00000540721.1_3'UTR	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													98	457					0	0	1	0	0	T	90102049	C	T	90102049	2	4	22	1	0	0	0	0	0	0	0	1	6291	639	23	1		1	GAS8	16	90102049	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4256	90102049	252704	16124	18270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	GAS8_ENST00000536122.1_Missense_Mutation_p.A446T|URAHP_ENST00000409873.1_Intron|URAHP_ENST00000517889.1_3'UTR	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													101	268					0	0	1	0	0	A	90109727	G	A	90109727	3	1	22	1	0	0	0	0	1	0	0	0	6291	1087	38	1	1453	1	GAS8	16	90109727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7678	90109727	245026	16125	18271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	489					0	0	1	0	0	A	90128425	G	A	90128425	2	1	22	1	0	0	0	0	0	0	0	1	12513	1136	40	1		1	PRDM7	16	90128425	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18698	90128425	226328	16126	18272											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536489.2_Silent_p.C284C|RPH3AL_ENST00000331302.7_Silent_p.C313C	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													26	156					0	0	1	0	0	A	63652	G	A	63652	2	1	22	1	0	0	0	0	0	0	0	1	13604	1195	42	2		2	RPH3AL	17	63652	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08		63652	81131558	16127	18273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	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													36	383					1.414e-09	1.48923e-09	1	1	0	A	263004	C	A	263004	3	1	22	1	0	0	0	0	1	0	0	0	1903	855	30	2		2	C17orf97	17	263004	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199352	263004	80932206	16128	18274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	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													7	416					0	0	1	0	0	T	263016	C	T	263016	3	4	22	1	0	0	0	0	1	0	0	0	1903	768	27	1		1	C17orf97	17	263016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12	263016	80932194	16129	18275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446250.2_Missense_Mutation_p.L67M|VPS53_ENST00000291074.5_Missense_Mutation_p.L236M|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000571805.1_Missense_Mutation_p.L265M|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_5'UTR	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													39	130					2.40579e-17	2.65515e-17	1	1	0	T	531366	G	T	531366	3	4	22	1	0	0	0	0	1	0	0	0	17275	933	33	2	1776	2	VPS53	17	531366	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	268350	531366	80663844	16130	18276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	287					0	0	1	0	0	T	644642	C	T	644642	2	4	22	1	0	0	0	0	0	0	0	1	5623	668	24	2		2	FAM57A	17	644642	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113276	644642	80550568	16131	18277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	129					0	0	1	0	0	A	648153	G	A	648153	3	1	22	1	0	0	0	0	1	0	0	0	6372	1232	43	2	50	2	GEMIN4	17	648153	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3511	648153	80547057	16132	18278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437269.1_3'UTR|GEMIN4_ENST00000319004.5_Missense_Mutation_p.D350N			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													96	425					0	0	1	0	0	T	650235	C	T	650235	3	4	22	1	0	0	0	0	1	0	0	0	6372	884	31	1	2132	1	GEMIN4	17	650235	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2082	650235	80544975	16133	18279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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													117	507					0	0	1	0	0	A	650531	G	A	650531	3	1	22	1	0	0	0	0	1	0	0	0	6372	1087	38	1	2428	1	GEMIN4	17	650531	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	296	650531	80544679	16134	18280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437269.1_Intron|GEMIN4_ENST00000319004.5_Silent_p.C237C			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													14	527					0	0	1	0	0	A	650572	G	A	650572	2	1	22	1	0	0	0	0	0	0	0	1	6372	963	34	2		2	GEMIN4	17	650572	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41	650572	80544638	16135	18281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:902750A>G	ENST00000327158.3	+	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													102	490					0	0	1	0	0	G	902750	A	G	902750	5	3	22	1	0	0	0	0	0	0	1	0	15970	202	7	3	444	3	TIMM22	17	902750	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	252178	902750	80292460	16136	18282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000302538.5_Missense_Mutation_p.Q167H|ABR_ENST00000291107.2_Missense_Mutation_p.Q130H|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													83	405					3.99893e-49	4.94408e-49	1	1	0	A	994935	C	A	994935	3	1	22	1	0	0	0	0	1	0	0	0	99	680	24	2	2158	2	ABR	17	994935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92185	994935	80200275	16137	18283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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						8	177					0	0	1	0	0	T	1257631	C	T	1257631	3	4	22	1	0	0	0	0	1	0	0	0	17562	797	28	2	186	2	YWHAE	17	1257631	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262696	1257631	79937579	16138	18284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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						96	440					0	0	1	0	0	T	1264567	C	T	1264567	3	4	22	1	0	0	0	0	1	0	0	0	17562	739	26	2	382	2	YWHAE	17	1264567	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6936	1264567	79930643	16139	18285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000572145.1_5'UTR|CRK_ENST00000398970.5_Missense_Mutation_p.A134V|CRK_ENST00000574295.1_Splice_Site	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													128	445					0	0	1	0	0	A	1340290	G	A	1340290	3	1	22	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	16140	18286											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361007.2_Missense_Mutation_p.V436I|MYO1C_ENST00000575158.1_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													150	556					0	0	1	0	0	T	1381256	C	T	1381256	3	4	22	1	0	0	0	0	1	0	0	0	10118	536	19	1	1860	1	MYO1C	17	1381256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40966	1381256	79813954	16141	18287											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361007.2_Silent_p.T380T|MYO1C_ENST00000575158.1_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													79	450					0	0	1	0	0	T	1381754	C	T	1381754	2	4	22	1	0	0	0	0	0	0	0	1	10118	639	23	1		1	MYO1C	17	1381754	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	498	1381754	79813456	16142	18288											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	160					0	0	1	0	0	C	1438814	T	C	1438814	5	2	22	1	0	0	0	0	0	0	1	0	11995	1594	55	3	373	3	PITPNA	17	1438814	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	57060	1438814	79756396	16143	18289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1479048C>T	ENST00000571650.1	-	15	1878	c.1572G>A	c.(1570-1572)ggG>ggA	p.G524G	SLC43A2_ENST00000382147.4_Silent_p.G524G|SLC43A2_ENST00000412517.3_Silent_p.G383G|SLC43A2_ENST00000301335.4_Silent_p.G520G			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	520					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													32	97					0	0	1	0	0	T	1479048	C	T	1479048	2	4	22	1	0	0	0	0	0	0	0	1	14688	726	26	2		2	SLC43A2	17	1479048	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40234	1479048	79716162	16144	18290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1494748C>T	ENST00000571650.1	-	8	1052	c.746G>A	c.(745-747)aGc>aAc	p.S249N	SLC43A2_ENST00000382147.4_Missense_Mutation_p.S249N|SLC43A2_ENST00000412517.3_Missense_Mutation_p.S112N|SLC43A2_ENST00000574274.1_5'UTR|SLC43A2_ENST00000301335.4_Missense_Mutation_p.S249N			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	249					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													72	361					0	0	1	0	0	T	1494748	C	T	1494748	3	4	22	1	0	0	0	0	1	0	0	0	14688	797	28	2	991	2	SLC43A2	17	1494748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15700	1494748	79700462	16145	18291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1519929G>A	ENST00000571650.1	-	3	601	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F	SLC43A2_ENST00000382147.4_Missense_Mutation_p.L99F|SLC43A2_ENST00000301335.4_Missense_Mutation_p.L99F			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	99					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													5	199					0	0	1	0	0	A	1519929	G	A	1519929	3	1	22	1	0	0	0	0	1	0	0	0	14688	971	34	2	1462	2	SLC43A2	17	1519929	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25181	1519929	79675281	16146	18292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	611					0	0	1	0	0	A	1538795	G	A	1538795	3	1	22	1	0	0	0	0	1	0	0	0	13936	1057	37	1	746	1	SCARF1	17	1538795	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18866	1538795	79656415	16147	18293											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	357					0	0	1	0	0	A	1563232	G	A	1563232	4	1	22	1	0	0	0	0	0	1	0	0	12627	1124	39	1	2210	1	PRPF8	17	1563232	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24437	1563232	79631978	16148	18294											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	859					0	0	1	0	0	T	1563837	C	T	1563837	2	4	22	1	0	0	0	0	0	0	0	1	12627	639	23	1		1	PRPF8	17	1563837	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	605	1563837	79631373	16149	18295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	335					0	0	1	0	0	T	1576444	C	T	1576444	2	4	22	1	0	0	0	0	0	0	0	1	12627	564	20	2		2	PRPF8	17	1576444	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12607	1576444	79618766	16150	18296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	294					0	0	1	0	0	T	1585273	C	T	1585273	3	4	22	1	0	0	0	0	1	0	0	0	12627	536	19	1	6669	1	PRPF8	17	1585273	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8829	1585273	79609937	16151	18297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382061.4_Missense_Mutation_p.R276H|SERPINF2_ENST00000450523.2_Missense_Mutation_p.R212H	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													36	598					0	0	1	0	0	A	1652003	G	A	1652003	3	1	22	1	0	0	0	0	1	0	0	0	14169	1087	38	1	863	1	SERPINF2	17	1652003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66730	1652003	79543207	16152	18298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382061.4_Silent_p.S432S|SERPINF2_ENST00000450523.2_Silent_p.S368S	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													128	624					0	0	1	0	0	T	1657648	C	T	1657648	2	4	22	1	0	0	0	0	0	0	0	1	14169	767	27	1		1	SERPINF2	17	1657648	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5645	1657648	79537562	16153	18299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	149					0	0	1	0	0	A	1686706	G	A	1686706	2	1	22	1	0	0	0	0	0	0	0	1	14878	1136	40	1		1	SMYD4	17	1686706	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29058	1686706	79508504	16154	18300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					40	188					0	0	1	0	0	T	1780550	C	T	1780550	3	4	22	1	0	0	0	0	1	0	0	0	13588	507	18	2	662	2	RPA1	17	1780550	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93844	1780550	79414660	16155	18301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	396					0	0	1	0	0	A	1943631	G	A	1943631	3	1	22	1	0	0	0	0	1	0	0	0	4746	1203	42	2	914	2	DPH1	17	1943631	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163081	1943631	79251579	16156	18302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	355					0	0	1	0	0	T	1943817	C	T	1943817	4	4	22	1	0	0	0	0	0	1	0	0	4746	644	23	1	974	1	DPH1	17	1943817	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186	1943817	79251393	16157	18303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	25	502					6.32553e-13	6.81307e-13	1	1	0	A	1946353	C	A	1946353	2	1	22	1	0	0	0	0	0	0	0	1	11369	610	22	2		2	OVCA2	17	1946353	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2536	1946353	79248857	16158	18304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1960076T>C	ENST00000399849.2	+	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	50					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													9	321					0	0	1	0	0	C	1960076	T	C	1960076	3	2	22	1	0	0	0	0	1	0	0	0	7142	1435	50	3	155	3	HIC1	17	1960076	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13723	1960076	79235134	16159	18305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1960163A>C	ENST00000399849.2	+	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	79	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													33	357					0	0	1	0	0	C	1960163	A	C	1960163	3	2	22	1	0	0	0	0	1	0	0	0	7142	275	10	3	242	3	HIC1	17	1960163	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	87	1960163	79235047	16160	18306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536871.2_Missense_Mutation_p.S429F|SMG6_ENST00000263073.5_Missense_Mutation_p.S1337F			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													32	134					0	0	1	0	0	A	1968799	G	A	1968799	3	1	22	1	0	0	0	0	1	0	0	0	14851	1174	41	2	261	2	SMG6	17	1968799	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8636	1968799	79226411	16161	18307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536871.2_Missense_Mutation_p.L183P|SMG6_ENST00000263073.5_Missense_Mutation_p.L1091P			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													60	314					0	0	1	0	0	G	2076037	A	G	2076037	3	3	22	1	0	0	0	0	1	0	0	0	14851	188	7	3	1015	3	SMG6	17	2076037	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	107238	2076037	79119173	16162	18308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536871.2_Silent_p.L19L|SMG6_ENST00000263073.5_Silent_p.L927L			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													75	335					0	0	1	0	0	A	2139876	G	A	2139876	2	1	22	1	0	0	0	0	0	0	0	1	14851	1020	36	2		2	SMG6	17	2139876	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63839	2139876	79055334	16163	18309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536871.2_Silent_p.V11V|SMG6_ENST00000263073.5_Silent_p.V919V			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													70	296					0	0	1	0	0	A	2139898	G	A	2139898	2	1	22	1	0	0	0	0	0	0	0	1	14851	1161	41	2		2	SMG6	17	2139898	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22	2139898	79055312	16164	18310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000263073.5_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													145	791					3.57201e-63	4.50676e-63	1	1	0	T	2202719	G	T	2202719	3	4	22	1	0	0	0	0	1	0	0	0	14851	942	33	2	3003	2	SMG6	17	2202719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62821	2202719	78992491	16165	18311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000263073.5_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													113	572					0	0	1	0	0	T	2202763	C	T	2202763	2	4	22	1	0	0	0	0	0	0	0	1	14851	755	27	1		1	SMG6	17	2202763	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44	2202763	78992447	16166	18312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000263073.5_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													25	407					0	0	1	0	0	T	2203925	C	T	2203925	3	4	22	1	0	0	0	0	1	0	0	0	14851	768	27	1	4209	1	SMG6	17	2203925	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1162	2203925	78991285	16167	18313											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	258					5.22555e-25	5.98653e-25	1	1	0	A	2224884	C	A	2224884	3	1	22	1	0	0	0	0	1	0	0	0	15222	797	28	2	586	2	SRR	17	2224884	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20959	2224884	78970326	16168	18314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_3'UTR|TSR1_ENST00000301364.4_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													17	654					0	0	1	0	0	T	2226545	C	T	2226545	3	4	22	1	0	0	0	0	1	0	0	0	15222	710	25	2	732	2	SRR	17	2226545	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1661	2226545	78968665	16169	18315											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_3'UTR|TSR1_ENST00000301364.4_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													44	198					0	0	1	0	0	A	2227000	G	A	2227000	3	1	22	1	0	0	0	0	1	0	0	0	15222	971	34	2	882	2	SRR	17	2227000	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	455	2227000	78968210	16170	18316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|SGSM2_ENST00000574650.1_3'UTR	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													17	599					0.00121646	0.00122896	1	1	0	A	2265527	C	A	2265527	3	1	22	1	0	0	0	0	1	0	0	0	14277	912	32	2	435	2	SGSM2	17	2265527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38527	2265527	78929683	16171	18317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	385					2.25582e-47	2.77644e-47	1	1	0	T	2281186	G	T	2281186	3	4	22	1	0	0	0	0	1	0	0	0	14277	933	33	2	2924	2	SGSM2	17	2281186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15659	2281186	78914024	16172	18318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	115					0	0	1	0	0	T	2282335	C	T	2282335	2	4	22	1	0	0	0	0	0	0	0	1	14277	796	28	2		2	SGSM2	17	2282335	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1149	2282335	78912875	16173	18319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	133					0	0	1	0	0	A	2282760	G	A	2282760	2	1	22	1	0	0	0	0	0	0	0	1	14277	1306	46	2		2	SGSM2	17	2282760	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	425	2282760	78912450	16174	18320											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.K46Q	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													50	189					0	0	1	0	0	C	2576029	A	C	2576029	3	2	22	1	0	0	0	0	1	0	0	0	11431	15	1	3	671	3	PAFAH1B1	17	2576029	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	293269	2576029	78619181	16175	18321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	307					0	0	1	0	0	A	2898752	G	A	2898752	3	1	22	1	0	0	0	0	1	0	0	0	13090	1087	38	1	1086	1	RAP1GAP2	17	2898752	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	322723	2898752	78296458	16176	18322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	440					2.48551e-13	2.68178e-13	1	1	0	T	2995640	G	T	2995640	2	4	22	1	0	0	0	0	0	0	0	1	11001	987	35	2		2	OR1D2	17	2995640	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96888	2995640	78199570	16177	18323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	277					5.5144e-22	6.22847e-22	1	1	0	A	3300833	C	A	3300833	3	1	22	1	0	0	0	0	1	0	0	0	11002	797	28	2	76	2	OR1E1	17	3300833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	305193	3300833	77894377	16178	18324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	225					3.61848e-18	4.01023e-18	1	1	0	A	3301258	C	A	3301258	3	1	22	1	0	0	0	0	1	0	0	0	11002	624	22	2	501	2	OR1E1	17	3301258	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	425	3301258	77893952	16179	18325											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000572969.1_Missense_Mutation_p.A334V|SPATA22_ENST00000575375.1_Missense_Mutation_p.A334V|SPATA22_ENST00000541913.1_Missense_Mutation_p.A318V|SPATA22_ENST00000397168.3_Missense_Mutation_p.A334V|SPATA22_ENST00000355380.4_Missense_Mutation_p.A291V			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	334										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						AGAAACAGACGCCGGTCTGAC	0.378													41	355					0	0	1	0	0	A	3343532	G	A	3343532	3	1	22	1	0	0	0	0	1	0	0	0	15064	1087	38	1	94	1	SPATA22	17	3343532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42274	3343532	77851678	16180	18326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000572969.1_Missense_Mutation_p.G277D|SPATA22_ENST00000575375.1_Missense_Mutation_p.G277D|SPATA22_ENST00000268981.5_Intron|SPATA22_ENST00000541913.1_Missense_Mutation_p.G261D|SPATA22_ENST00000397168.3_Missense_Mutation_p.G277D|SPATA22_ENST00000355380.4_Missense_Mutation_p.G234D			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	277										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						ATAATATGGGCCAGGTGTAAC	0.348													22	117					0	0	1	0	0	T	3346538	C	T	3346538	3	4	22	1	0	0	0	0	1	0	0	0	15064	739	26	2	269	2	SPATA22	17	3346538	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3006	3346538	77848672	16181	18327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000576742.1_Missense_Mutation_p.D519N|TRPV3_ENST00000572519.1_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													19	65					0	0	1	0	0	T	3430170	C	T	3430170	3	4	22	1	0	0	0	0	1	0	0	0	16658	855	30	2	845	2	TRPV3	17	3430170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83632	3430170	77765040	16182	18328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000576742.1_Silent_p.P344P|TRPV3_ENST00000572519.1_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													34	201					0	0	1	0	0	T	3435984	C	T	3435984	2	4	22	1	0	0	0	0	0	0	0	1	16658	755	27	1		1	TRPV3	17	3435984	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5814	3435984	77759226	16183	18329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399759.3_Missense_Mutation_p.F488L|SHPK_ENST00000572705.1_Missense_Mutation_p.F488L|TRPV1_ENST00000399756.4_Missense_Mutation_p.F488L|TRPV1_ENST00000571088.1_Missense_Mutation_p.F488L|TRPV1_ENST00000576351.1_Missense_Mutation_p.F478L|TRPV1_ENST00000425167.2_Missense_Mutation_p.F499L			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													15	55					1.67942e-08	1.75525e-08	1	1	0	T	3486644	G	T	3486644	3	4	22	1	0	0	0	0	1	0	0	0	16656	933	33	2	760	2	TRPV1	17	3486644	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50660	3486644	77708566	16184	18330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399759.3_Missense_Mutation_p.Q229H|SHPK_ENST00000572705.1_Missense_Mutation_p.Q229H|TRPV1_ENST00000399756.4_Missense_Mutation_p.Q229H|TRPV1_ENST00000571088.1_Missense_Mutation_p.Q229H|TRPV1_ENST00000576351.1_Missense_Mutation_p.Q229H|TRPV1_ENST00000425167.2_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													42	366					4.06502e-11	4.33256e-11	1	1	0	A	3493604	C	A	3493604	3	1	22	1	0	0	0	0	1	0	0	0	16656	680	24	2	1553	2	TRPV1	17	3493604	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6960	3493604	77701606	16185	18331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399759.3_Missense_Mutation_p.G225R|SHPK_ENST00000572705.1_Missense_Mutation_p.G225R|TRPV1_ENST00000399756.4_Missense_Mutation_p.G225R|TRPV1_ENST00000571088.1_Missense_Mutation_p.G225R|TRPV1_ENST00000576351.1_Missense_Mutation_p.G225R|TRPV1_ENST00000425167.2_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													34	331					0	0	1	0	0	T	3493618	C	T	3493618	3	4	22	1	0	0	0	0	1	0	0	0	16656	661	23	1	1567	1	TRPV1	17	3493618	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14	3493618	77701592	16186	18332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_037408.2	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													95	458					0	0	1	0	0	T	3514153	C	T	3514153	3	4	22	1	0	0	0	0	1	0	0	0	14345	855	30	2	302	2	SHPK	17	3514153	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20535	3514153	77681057	16187	18333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTNS_ENST00000441220.2_Silent_p.I70I|CTNS_ENST00000381870.3_Silent_p.I178I|CTNS_ENST00000414524.2_Silent_p.I31I|RP11-235E17.6_ENST00000575741.1_RNA	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													45	186					0	0	1	0	0	T	3559853	C	T	3559853	2	4	22	1	0	0	0	0	0	0	0	1	4045	874	31	1		1	CTNS	17	3559853	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45700	3559853	77635357	16188	18334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_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													52	507					1.86277e-20	2.08787e-20	1	1	0	A	3628546	C	A	3628546	2	1	22	1	0	0	0	0	0	0	0	1	6863	668	24	2		2	GSG2	17	3628546	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68693	3628546	77566664	16189	18335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_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													74	360					0	0	1	0	0	C	3628844	T	C	3628844	3	2	22	1	0	0	0	0	1	0	0	0	6863	1551	54	3	1617	3	GSG2	17	3628844	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	298	3628844	77566366	16190	18336											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ITGAE_ENST00000571185.1_Intron|CTD-3195I5.4_ENST00000575043.1_RNA	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													70	371					3.4779e-39	4.20191e-39	1	1	0	A	3632827	C	A	3632827	3	1	22	1	0	0	0	0	1	0	0	0	7929	739	26	2	714	2	ITGAE	17	3632827	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3983	3632827	77562383	16191	18337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													153	751					0	0	1	0	0	T	3646868	C	T	3646868	3	4	22	1	0	0	0	0	1	0	0	0	7929	797	28	2	1228	2	ITGAE	17	3646868	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14041	3646868	77548342	16192	18338											
ITGAE	3682	broad.mit.edu	37	chr17	3655126	3655126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcgggcattggtgaaccCggggtgcccactcagtatgc	14	11	1	1	rs149540181	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3655126C>T	ENST00000263087.4	-	15	1809	c.1711G>A	c.(1711-1713)Ggg>Agg	p.G571R		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	571					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)		TTGGTGAACCCGGGGTGCCCA	0.567													68	362					0	0	1	0	0	T	3655126	C	T	3655126	3	4	22	1	0	0	0	0	1	0	0	0	7929	652	23	1	1896	1	ITGAE	17	3655126	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8258	3655126	77540084	16193	18339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													140	584					0	0	1	0	0	G	3716516	T	G	3716516	3	3	22	1	0	0	0	0	1	0	0	0	1898	1841	64	3	181	3	C17orf85	17	3716516	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	61390	3716516	77478694	16194	18340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	251					0	0	1	0	0	A	3717766	G	A	3717766	3	1	22	1	0	0	0	0	1	0	0	0	1898	1086	38	1	393	1	C17orf85	17	3717766	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1250	3717766	77477444	16195	18341											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	441					2.05912e-35	2.45818e-35	1	1	0	T	3721599	G	T	3721599	3	4	22	1	0	0	0	0	1	0	0	0	1898	1029	36	2	610	2	C17orf85	17	3721599	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3833	3721599	77473611	16196	18342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000158166.5_Missense_Mutation_p.A245V|CAMKK1_ENST00000381769.2_Intron|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													57	330					0	0	1	0	0	A	3785616	G	A	3785616	3	1	22	1	0	0	0	0	1	0	0	0	2624	1203	42	2	941	2	CAMKK1	17	3785616	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64017	3785616	77409594	16197	18343											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	822					0	0	1	0	0	T	3801339	C	T	3801339	2	4	22	1	0	0	0	0	0	0	0	1	11386	912	32	2		2	P2RX1	17	3801339	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15723	3801339	77393871	16198	18344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Silent_p.E574E|ATP2A3_ENST00000397041.3_Silent_p.E574E|ATP2A3_ENST00000397043.3_Silent_p.E574E|ATP2A3_ENST00000397035.3_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													123	600					0	0	1	0	0	T	3844772	C	T	3844772	2	4	22	1	0	0	0	0	0	0	0	1	1137	680	24	2		2	ATP2A3	17	3844772	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43433	3844772	77350438	16199	18345											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Silent_p.A100A|ATP2A3_ENST00000397041.3_Silent_p.A100A|ATP2A3_ENST00000397043.3_Silent_p.A100A|ATP2A3_ENST00000397035.3_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													19	79					0	0	1	0	0	A	3854899	G	A	3854899	2	1	22	1	0	0	0	0	0	0	0	1	1137	1335	47	2		2	ATP2A3	17	3854899	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10127	3854899	77340311	16200	18346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	173					0	0	1	0	0	A	3912991	G	A	3912991	2	1	22	1	0	0	0	0	0	0	0	1	18295	1140	40	1		1	ZZEF1	17	3912991	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58092	3912991	77282219	16201	18347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	253					0	0	1	0	0	A	3916785	G	A	3916785	3	1	22	1	0	0	0	0	1	0	0	0	18295	1203	42	2	364	2	ZZEF1	17	3916785	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3794	3916785	77278425	16202	18348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	72					1.40151e-16	1.54097e-16	1	1	0	T	3966072	G	T	3966072	3	4	22	1	0	0	0	0	1	0	0	0	18295	933	33	2	4131	2	ZZEF1	17	3966072	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49287	3966072	77229138	16203	18349											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	543					2.17888e-05	2.22852e-05	1	1	0	T	3968016	G	T	3968016	3	4	22	1	0	0	0	0	1	0	0	0	18295	942	33	2	4636	2	ZZEF1	17	3968016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1944	3968016	77227194	16204	18350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	488					0	0	1	0	0	A	3968078	G	A	3968078	3	1	22	1	0	0	0	0	1	0	0	0	18295	1232	43	2	4698	2	ZZEF1	17	3968078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62	3968078	77227132	16205	18351											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													147	620					0	0	1	0	0	A	3977461	G	A	3977461	3	1	22	1	0	0	0	0	1	0	0	0	18295	1087	38	1	5345	1	ZZEF1	17	3977461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9383	3977461	77217749	16206	18352											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Silent_p.P733P|ANKFY1_ENST00000574367.1_Silent_p.P692P	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													146	584					0	0	1	0	0	T	4085524	C	T	4085524	2	4	22	1	0	0	0	0	0	0	0	1	622	755	27	1		1	ANKFY1	17	4085524	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108063	4085524	77109686	16207	18353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	292					0	0	1	0	0	A	4436305	G	A	4436305	2	1	22	1	0	0	0	0	0	0	0	1	15131	1103	39	1		1	SPNS2	17	4436305	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	350781	4436305	76758905	16208	18354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	149					0	0	1	0	0	A	4436361	G	A	4436361	3	1	22	1	0	0	0	0	1	0	0	0	15131	1087	38	1	1051	1	SPNS2	17	4436361	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56	4436361	76758849	16209	18355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	459					0	0	1	0	0	T	4445963	C	T	4445963	3	4	22	1	0	0	0	0	1	0	0	0	10056	768	27	1	1084	1	MYBBP1A	17	4445963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9602	4445963	76749247	16210	18356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	113					0	0	1	0	0	T	4449013	C	T	4449013	2	4	22	1	0	0	0	0	0	0	0	1	10056	709	25	2		2	MYBBP1A	17	4449013	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3050	4449013	76746197	16211	18357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	327					0	0	1	0	0	T	4455562	C	T	4455562	3	4	22	1	0	0	0	0	1	0	0	0	10056	768	27	1	3343	1	MYBBP1A	17	4455562	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6549	4455562	76739648	16212	18358											
SMTNL2	342527	broad.mit.edu	37	chr17	4496307	4496307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgtgagcctctccttgCggctgccccaccagccagtc	10	18	1	1	rs112578571	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4496307C>T	ENST00000389313.4	+	3	638	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	SMTNL2_ENST00000338859.4_Missense_Mutation_p.R47W	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	191										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CCTCTCCTTGCGGCTGCCCCA	0.622													30	320					0	0	1	0	0	T	4496307	C	T	4496307	3	4	22	1	0	0	0	0	1	0	0	0	14870	759	27	1	581	1	SMTNL2	17	4496307	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40745	4496307	76698903	16213	18359											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000571206.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000346341.2_Missense_Mutation_p.A68T|ARRB2_ENST00000575877.1_Missense_Mutation_p.A83T|ARRB2_ENST00000381488.6_Missense_Mutation_p.A68T|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													79	297					0	0	1	0	0	A	4619793	G	A	4619793	3	1	22	1	0	0	0	0	1	0	0	0	980	1087	38	1	265	1	ARRB2	17	4619793	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123486	4619793	76575417	16214	18360											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000572457.1_5'UTR|ARRB2_ENST00000346341.2_Missense_Mutation_p.P168S|ARRB2_ENST00000575877.1_Missense_Mutation_p.P183S|ARRB2_ENST00000381488.6_Missense_Mutation_p.P168S|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													23	155					0	0	1	0	0	T	4621244	C	T	4621244	3	4	22	1	0	0	0	0	1	0	0	0	980	739	26	2	577	2	ARRB2	17	4621244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1451	4621244	76573966	16215	18361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000574412.1_Missense_Mutation_p.S257Y|CXCL16_ENST00000576153.1_5'UTR	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													7	249					0.27861	0.278732	1	1	0	T	4638392	G	T	4638392	3	4	22	1	0	0	0	0	1	0	0	0	4106	942	33	2	59	2	CXCL16	17	4638392	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17148	4638392	76556818	16216	18362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000573751.2_Missense_Mutation_p.G33W|ZMYND15_ENST00000592813.1_Missense_Mutation_p.G33W|ZMYND15_ENST00000269289.6_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													12	224					0.00136819	0.0013818	1	1	0	T	4643940	G	T	4643940	3	4	22	1	0	0	0	0	1	0	0	0	17766	1000	35	2	99	2	ZMYND15	17	4643940	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5548	4643940	76551270	16217	18363											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000416307.2_Missense_Mutation_p.A87V|VMO1_ENST00000354194.4_Intron|VMO1_ENST00000441199.2_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													28	198					0	0	1	0	0	A	4689283	G	A	4689283	3	1	22	1	0	0	0	0	1	0	0	0	17237	1087	38	1	390	1	VMO1	17	4689283	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45343	4689283	76505927	16218	18364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	441					0	0	1	0	0	A	4712837	G	A	4712837	3	1	22	1	0	0	0	0	1	0	0	0	12094	1087	38	1	627	1	PLD2	17	4712837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23554	4712837	76482373	16219	18365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4720350G>A	ENST00000263088.6	+	16	1832	c.1701_splice	c.e16+1	p.K567_splice	PLD2_ENST00000572940.1_Splice_Site_p.K567_splice	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													130	507					0	0	1	0	0	A	4720350	G	A	4720350	5	1	22	1	0	0	0	0	0	0	1	0	12094	1014	35	2	1759	2	PLD2	17	4720350	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7513	4720350	76474860	16220	18366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	530					0	0	1	0	0	A	4725101	G	A	4725101	3	1	22	1	0	0	0	0	1	0	0	0	12094	971	34	2	2566	2	PLD2	17	4725101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4751	4725101	76470109	16221	18367											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453408.3_Silent_p.G820G|MINK1_ENST00000347992.7_Silent_p.G811G	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													47	172					0	0	1	0	0	T	4796848	C	T	4796848	2	4	22	1	0	0	0	0	0	0	0	1	9635	755	27	1		1	MINK1	17	4796848	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71747	4796848	76398362	16222	18368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453408.3_Silent_p.L962L|MINK1_ENST00000347992.7_Silent_p.L953L	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													36	176					0	0	1	0	0	T	4798398	C	T	4798398	2	4	22	1	0	0	0	0	0	0	0	1	9635	871	31	1		1	MINK1	17	4798398	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1550	4798398	76396812	16223	18369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	128					0	0	1	0	0	T	4804099	C	T	4804099	2	4	22	1	0	0	0	0	0	0	0	1	3417	755	27	1		1	CHRNE	17	4804099	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5701	4804099	76391111	16224	18370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	438					0	0	1	0	0	A	4841116	G	A	4841116	2	1	22	1	0	0	0	0	0	0	0	1	14528	991	35	2		2	SLC25A11	17	4841116	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37017	4841116	76354094	16225	18371											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	231					0	0	1	0	0	A	4841499	G	A	4841499	2	1	22	1	0	0	0	0	0	0	0	1	14528	1078	38	1		1	SLC25A11	17	4841499	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	383	4841499	76353711	16226	18372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348066.3_Nonsense_Mutation_p.R1120*|CAMTA2_ENST00000381311.5_Nonsense_Mutation_p.R1115*|CAMTA2_ENST00000358183.4_Nonsense_Mutation_p.R1113*|CAMTA2_ENST00000414043.3_Nonsense_Mutation_p.R1143*|CAMTA2_ENST00000572543.1_Nonsense_Mutation_p.R1125*	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													17	575					0	0	1	0	0	A	4872557	G	A	4872557	4	1	22	1	0	0	0	0	0	1	0	0	2632	1095	38	1	312	1	CAMTA2	17	4872557	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31058	4872557	76322653	16227	18373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348066.3_Silent_p.H716H|CAMTA2_ENST00000381311.5_Silent_p.H718H|CAMTA2_ENST00000358183.4_Silent_p.H716H|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000414043.3_Silent_p.H739H|CAMTA2_ENST00000572543.1_Silent_p.H721H	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													36	163					0	0	1	0	0	A	4876933	G	A	4876933	2	1	22	1	0	0	0	0	0	0	0	1	2632	1252	44	2		2	CAMTA2	17	4876933	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4376	4876933	76318277	16228	18374											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348066.3_Missense_Mutation_p.P678H|CAMTA2_ENST00000381311.5_Missense_Mutation_p.P680H|CAMTA2_ENST00000358183.4_Missense_Mutation_p.P678H|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000414043.3_Missense_Mutation_p.P701H|CAMTA2_ENST00000572543.1_Missense_Mutation_p.P683H	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													62	230					1.22587e-43	1.49745e-43	1	1	0	T	4877048	G	T	4877048	3	4	22	1	0	0	0	0	1	0	0	0	2632	1000	35	2	1669	2	CAMTA2	17	4877048	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115	4877048	76318162	16229	18375											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348066.3_Missense_Mutation_p.S251Y|CAMTA2_ENST00000381311.5_Missense_Mutation_p.S253Y|CAMTA2_ENST00000358183.4_Missense_Mutation_p.S251Y|CAMTA2_ENST00000414043.3_Missense_Mutation_p.S274Y|CAMTA2_ENST00000572543.1_Missense_Mutation_p.S256Y	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)	89	448					5.48297e-45	6.7172e-45	1	1	0	T	4883865	G	T	4883865	3	4	22	1	0	0	0	0	1	0	0	0	2632	942	33	2	2966	2	CAMTA2	17	4883865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6817	4883865	76311345	16230	18376											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000575780.1_Missense_Mutation_p.R39H|INCA1_ENST00000355025.3_Missense_Mutation_p.R39H|INCA1_ENST00000576820.1_Missense_Mutation_p.R39H|INCA1_ENST00000574617.1_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													54	224					0	0	1	0	0	T	4893489	C	T	4893489	3	4	22	1	0	0	0	0	1	0	0	0	7776	536	19	1	614	1	INCA1	17	4893489	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9624	4893489	76301721	16231	18377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	618					0	0	1	0	0	A	4905925	G	A	4905925	3	1	22	1	0	0	0	0	1	0	0	0	8327	1174	41	2	614	2	KIF1C	17	4905925	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12436	4905925	76289285	16232	18378											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	354					0	0	1	0	0	A	4996027	G	A	4996027	3	1	22	1	0	0	0	0	1	0	0	0	17701	1377	48	2	1230	2	ZFP3	17	4996027	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90102	4996027	76199183	16233	18379											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								170	877					0	0	1	0	0	A	5040979	G	A	5040979	3	1	22	1	0	0	0	0	1	0	0	0	17146	1145	40	1	901	1	USP6	17	5040979	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44952	5040979	76154231	16234	18380											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								59	319					0	0	1	0	0	A	5042848	G	A	5042848	2	1	22	1	0	0	0	0	0	0	0	1	17146	1103	39	1		1	USP6	17	5042848	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1869	5042848	76152362	16235	18381											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								70	284					0	0	1	0	0	A	5042898	G	A	5042898	3	1	22	1	0	0	0	0	1	0	0	0	17146	971	34	2	1477	2	USP6	17	5042898	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50	5042898	76152312	16236	18382											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000537505.1_Silent_p.E529E|RABEP1_ENST00000408982.2_Silent_p.E572E|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000546142.2_Silent_p.E572E|RABEP1_ENST00000341923.6_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													83	355					0	0	1	0	0	A	5268464	G	A	5268464	2	1	22	1	0	0	0	0	0	0	0	1	13013	933	33	2		2	RABEP1	17	5268464	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	225566	5268464	75926746	16237	18383											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RABEP1_ENST00000537505.1_Missense_Mutation_p.R635W|RABEP1_ENST00000408982.2_Missense_Mutation_p.R678W|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000546142.2_Missense_Mutation_p.R678W|RABEP1_ENST00000341923.6_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													156	630					0	0	1	0	0	T	5280417	C	T	5280417	3	4	22	1	0	0	0	0	1	0	0	0	13013	759	27	1	2086	1	RABEP1	17	5280417	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11953	5280417	75914793	16238	18384											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RABEP1_ENST00000537505.1_Silent_p.Q783Q|RABEP1_ENST00000408982.2_Silent_p.Q793Q|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000546142.2_Silent_p.Q826Q|RABEP1_ENST00000341923.6_Silent_p.Q793Q	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													46	236					0	0	1	0	0	A	5284791	G	A	5284791	2	1	22	1	0	0	0	0	0	0	0	1	13013	933	33	2		2	RABEP1	17	5284791	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4374	5284791	75910419	16239	18385											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	158					2.47872e-24	2.8326e-24	1	1	0	T	5302881	G	T	5302881	3	4	22	1	0	0	0	0	1	0	0	0	10819	942	33	2	983	2	NUP88	17	5302881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18090	5302881	75892329	16240	18386											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	109					7.04047e-22	7.94894e-22	1	1	0	T	5323023	G	T	5323023	1	4	22	1	0	0	0	0	0	0	0	0	10819	986	34	2		2	NUP88	17	5323023	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20142	5323023	75872187	16241	18387											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	428					0	0	1	0	0	C	5336648	T	C	5336648	3	2	22	1	0	0	0	0	1	0	0	0	1969	1638	57	3	192	3	C1QBP	17	5336648	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13625	5336648	75858562	16242	18388											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000269280.4_Missense_Mutation_p.I799S|NLRP1_ENST00000354411.3_Missense_Mutation_p.I799S|NLRP1_ENST00000262467.5_Missense_Mutation_p.I799S|NLRP1_ENST00000577119.1_Missense_Mutation_p.I799S|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_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													42	233					0	0	1	0	0	C	5456838	A	C	5456838	3	2	22	1	0	0	0	0	1	0	0	0	10518	101	4	3	2152	3	NLRP1	17	5456838	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	120190	5456838	75738372	16243	18389											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000574232.1_Nonsense_Mutation_p.C148*|WSCD1_ENST00000317744.5_Nonsense_Mutation_p.C148*|WSCD1_ENST00000539421.1_Nonsense_Mutation_p.C148*|WSCD1_ENST00000573634.1_Nonsense_Mutation_p.C32*			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													18	396					8.34094e-07	8.61956e-07	1	1	0	A	5991326	C	A	5991326	4	1	22	1	0	0	0	0	0	1	0	0	17466	805	28	2	450	2	WSCD1	17	5991326	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534488	5991326	75203884	16244	18390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000570466.1_Missense_Mutation_p.V59M|AIPL1_ENST00000571740.1_Missense_Mutation_p.V81M|AIPL1_ENST00000575265.1_Missense_Mutation_p.V81M|AIPL1_ENST00000250087.5_Missense_Mutation_p.V81M|AIPL1_ENST00000576307.1_Intron|AIPL1_ENST00000576776.1_Missense_Mutation_p.V81M|AIPL1_ENST00000574506.1_Missense_Mutation_p.V69M	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													21	134					0	0	1	0	0	T	6337274	C	T	6337274	3	4	22	1	0	0	0	0	1	0	0	0	433	507	18	2	933	2	AIPL1	17	6337274	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	345948	6337274	74857936	16245	18391											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000250056.8_Missense_Mutation_p.S97P|FAM64A_ENST00000571373.1_Missense_Mutation_p.S97P|FAM64A_ENST00000570337.2_Missense_Mutation_p.S97P|FAM64A_ENST00000576056.1_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													65	284					0	0	1	0	0	C	6348719	T	C	6348719	3	2	22	1	0	0	0	0	1	0	0	0	5633	1667	58	3	291	3	FAM64A	17	6348719	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11445	6348719	74846491	16246	18392											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000570330.1_Missense_Mutation_p.E5D|TXNDC17_ENST00000574838.1_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													32	137					8.16721e-17	8.9905e-17	1	1	0	T	6544417	G	T	6544417	3	4	22	1	0	0	0	0	1	0	0	0	16858	991	35	2	17	2	TXNDC17	17	6544417	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	195698	6544417	74650793	16247	18393											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000575197.1_3'UTR|MED31_ENST00000574128.1_Missense_Mutation_p.Y7H	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													93	348					0	0	1	0	0	G	6547942	A	G	6547942	3	3	22	1	0	0	0	0	1	0	0	0	9499	449	16	3	158	3	MED31	17	6547942	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3525	6547942	74647268	16248	18394											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381074.4_Missense_Mutation_p.K331N|SLC13A5_ENST00000293800.6_Missense_Mutation_p.K357N|SLC13A5_ENST00000573648.1_Missense_Mutation_p.K374N	NM_177550.3	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													19	146					2.39187e-15	2.61288e-15	1	1	0	A	6597450	C	A	6597450	3	1	22	1	0	0	0	0	1	0	0	0	14450	796	28	2	604	2	SLC13A5	17	6597450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49508	6597450	74597760	16249	18395											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	153	671					0	0	1	0	0	G	6704113	T	G	6704113	3	3	22	1	0	0	0	0	1	0	0	0	15811	1490	52	3	262	3	TEKT1	17	6704113	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	106663	6704113	74491097	16250	18396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	286					0	0	1	0	0	A	6733612	G	A	6733612	1	1	22	1	0	0	0	0	0	0	0	0	15811	1136	40	1		1	TEKT1	17	6733612	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29499	6733612	74461598	16251	18397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-589P10.7_ENST00000572547.1_RNA|C17orf49_ENST00000546760.1_Missense_Mutation_p.S149Y|RNASEK-C17orf49_ENST00000607129.1_3'UTR|RNASEK-C17orf49_ENST00000606880.1_3'UTR|C17orf49_ENST00000547709.1_3'UTR|C17orf49_ENST00000552402.1_3'UTR|MIR497HG_ENST00000443997.1_RNA|MIR497HG_ENST00000572453.1_RNA|C17orf49_ENST00000439424.2_3'UTR|C17orf49_ENST00000552775.1_Missense_Mutation_p.S158Y			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													104	439					6.17869e-53	7.6938e-53	1	1	0	A	6920612	C	A	6920612	3	1	22	1	0	0	0	0	1	0	0	0	1869	913	32	2	573	2	C17orf49	17	6920612	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187000	6920612	74274598	16252	18398											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	99	BTB.					nucleus	zinc ion binding			skin(1)	1						ATGTACACTTCGCGCCTGCGC	0.642													89	844					0	0	1	0	0	T	6927518	C	T	6927518	3	4	22	1	0	0	0	0	1	0	0	0	1375	893	31	1	302	1	BCL6B	17	6927518	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6906	6927518	74267692	16253	18399											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	326					0	0	1	0	0	A	6941494	G	A	6941494	3	1	22	1	0	0	0	0	1	0	0	0	14461	1087	38	1	377	1	SLC16A13	17	6941494	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13976	6941494	74253716	16254	18400											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	335					0	0	1	0	0	G	6941591	T	G	6941591	3	3	22	1	0	0	0	0	1	0	0	0	14461	1841	64	3	474	3	SLC16A13	17	6941591	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	97	6941591	74253619	16255	18401											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001172.1|NP_001188281.1|NP_550434.1	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													21	81					0	0	1	0	0	A	7012170	G	A	7012170	2	1	22	1	0	0	0	0	0	0	0	1	1039	963	34	2		2	ASGR2	17	7012170	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70579	7012170	74183040	16256	18402											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001172.1|NP_001188281.1|NP_550434.1	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													31	398					4.34311e-12	4.6502e-12	1	1	0	A	7017525	C	A	7017525	3	1	22	1	0	0	0	0	1	0	0	0	1039	797	28	2	932	2	ASGR2	17	7017525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5355	7017525	74177685	16257	18403											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380920.4_Missense_Mutation_p.D14N|ASGR1_ENST00000572879.1_Intron|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													27	487					0	0	1	0	0	T	7080161	C	T	7080161	3	4	22	1	0	0	0	0	1	0	0	0	1038	855	30	2	552	2	ASGR1	17	7080161	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62636	7080161	74115049	16258	18404											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399506.2_Missense_Mutation_p.S188I|DLG4_ENST00000302955.6_Missense_Mutation_p.S185I|DLG4_ENST00000485100.1_Missense_Mutation_p.S185I	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													27	148					4.59853e-10	4.86106e-10	1	1	0	A	7106591	C	A	7106591	3	1	22	1	0	0	0	0	1	0	0	0	4585	797	28	2	1667	2	DLG4	17	7106591	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26430	7106591	74088619	16259	18405											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	293					0	0	1	0	0	A	7129389	G	A	7129389	3	1	22	1	0	0	0	0	1	0	0	0	4862	1116	39	1	208	1	DVL2	17	7129389	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22798	7129389	74065821	16260	18406											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	141					0	0	1	0	0	A	7130980	G	A	7130980	3	1	22	1	0	0	0	0	1	0	0	0	4862	1203	42	2	1005	2	DVL2	17	7130980	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1591	7130980	74064230	16261	18407											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	295					0	0	1	0	0	T	7133391	C	T	7133391	3	4	22	1	0	0	0	0	1	0	0	0	4862	768	27	1	1764	1	DVL2	17	7133391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2411	7133391	74061819	16262	18408											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7195345C>A	ENST00000007699.5	-	3	432	c.369_splice	c.e3+1	p.Q123_splice	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													62	293					1.53134e-21	1.72607e-21	1	1	0	A	7195345	C	A	7195345	5	1	22	1	0	0	0	0	0	0	1	0	17530	695	24	2	749	2	YBX2	17	7195345	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61954	7195345	73999865	16263	18409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000570460.1_Nonsense_Mutation_p.W781*|NEURL4_ENST00000315614.7_Nonsense_Mutation_p.W803*	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													40	170					0	0	1	0	0	T	7226812	C	T	7226812	4	4	22	1	0	0	0	0	0	1	0	0	10394	856	30	2	2343	2	NEURL4	17	7226812	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31467	7226812	73968398	16264	18410											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000570460.1_Missense_Mutation_p.R547C|NEURL4_ENST00000315614.7_Missense_Mutation_p.R569C	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)	152	644					0	0	1	0	0	A	7228226	G	A	7228226	3	1	22	1	0	0	0	0	1	0	0	0	10394	1087	38	1	3067	1	NEURL4	17	7228226	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1414	7228226	73966984	16265	18411											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000570460.1_Silent_p.T440T|NEURL4_ENST00000315614.7_Silent_p.T462T	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													9	347					0	0	1	0	0	T	7228773	C	T	7228773	2	4	22	1	0	0	0	0	0	0	0	1	10394	755	27	1		1	NEURL4	17	7228773	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	547	7228773	73966437	16266	18412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	95	385					0	0	1	0	0	T	7249714	C	T	7249714	3	4	22	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	16267	18413											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	166					2.52637e-11	2.69424e-11	1	1	0	A	7256385	C	A	7256385	3	1	22	1	0	0	0	0	1	0	0	0	8142	796	28	2	126	2	KCTD11	17	7256385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6671	7256385	73938825	16268	18414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	501					0	0	1	0	0	T	7256609	C	T	7256609	2	4	22	1	0	0	0	0	0	0	0	1	8142	639	23	1		1	KCTD11	17	7256609	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	224	7256609	73938601	16269	18415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	615					0	0	1	0	0	A	7256700	G	A	7256700	3	1	22	1	0	0	0	0	1	0	0	0	8142	1174	41	2	441	2	KCTD11	17	7256700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91	7256700	73938510	16270	18416											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	191					0	0	1	0	0	T	7256823	C	T	7256823	3	4	22	1	0	0	0	0	1	0	0	0	8142	759	27	1	564	1	KCTD11	17	7256823	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123	7256823	73938387	16271	18417											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330767.4_Missense_Mutation_p.A24V|TMEM95_ENST00000576060.1_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													36	192					0	0	1	0	0	T	7258594	C	T	7258594	3	4	22	1	0	0	0	0	1	0	0	0	16283	739	26	2	73	2	TMEM95	17	7258594	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1771	7258594	73936616	16272	18418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330767.4_Missense_Mutation_p.A108T|TMEM95_ENST00000576060.1_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)	118	407					0	0	1	0	0	A	7259362	G	A	7259362	3	1	22	1	0	0	0	0	1	0	0	0	16283	1087	38	1	336	1	TMEM95	17	7259362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	768	7259362	73935848	16273	18419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330767.4_Missense_Mutation_p.V134M|TMEM95_ENST00000576060.1_Missense_Mutation_p.V126M			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)	53	176					0	0	1	0	0	A	7259562	G	A	7259562	3	1	22	1	0	0	0	0	1	0	0	0	16283	1261	44	2	418	2	TMEM95	17	7259562	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200	7259562	73935648	16274	18420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	224					6.5261e-18	7.22248e-18	1	1	0	A	7291949	C	A	7291949	3	1	22	1	0	0	0	0	1	0	0	0	16377	739	26	2	1740	2	TNK1	17	7291949	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32387	7291949	73903261	16275	18421											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	319					0	0	1	0	0	T	7315515	C	T	7315515	3	4	22	1	0	0	0	0	1	0	0	0	10509	652	23	1	503	1	NLGN2	17	7315515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23566	7315515	73879695	16276	18422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	593					0	0	1	0	0	A	7318933	G	A	7318933	3	1	22	1	0	0	0	0	1	0	0	0	10509	1116	39	1	1163	1	NLGN2	17	7318933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3418	7318933	73876277	16277	18423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	57					1.67942e-08	1.75525e-08	1	1	0	T	7323765	G	T	7323765	3	4	22	1	0	0	0	0	1	0	0	0	15093	971	34	2	64	2	SPEM1	17	7323765	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4832	7323765	73871445	16278	18424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	324					0	0	1	0	0	C	7323996	T	C	7323996	2	2	22	1	0	0	0	0	0	0	0	1	15093	1829	64	3		3	SPEM1	17	7323996	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	231	7323996	73871214	16279	18425											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	201					0	0	1	0	0	T	7324541	C	T	7324541	3	4	22	1	0	0	0	0	1	0	0	0	15093	739	26	2	557	2	SPEM1	17	7324541	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	545	7324541	73870669	16280	18426											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	194					0	0	1	0	0	T	7330031	C	T	7330031	3	4	22	1	0	0	0	0	1	0	0	0	1889	768	27	1	731	1	C17orf74	17	7330031	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5490	7330031	73865179	16281	18427											
ZBTB4	57659	broad.mit.edu	37	chr17	7366349	7366351	+	In_Frame_Del	DEL	TCC	TCC	-													cagcctttgattcctcctcaTcctcctcctcctcctcttcg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7366349_7366351delTCC	ENST00000311403.4	-	4	2289_2291	c.1950_1952delGGA	c.(1948-1953)gat>ga	p.ED650del	ZBTB4_ENST00000380599.4_In_Frame_Del_p.ED650del	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	650	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)		Ttcctcctcatcctcctcctcct	0.606													7	302	---	---	---	---						-	7366351	TCC	-	7366349	7	5	22	1	0	1	0	1	0	0	0	0	17600	1435	50	0	1093	0	ZBTB4	17	7366349	In_Frame_Del	DEL	TCC	TCGA-IB-7651-01A-11D-2154-08	36318	7366349	73828861	16282	18428											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	80					0	0	1	0	0	A	7366455	G	A	7366455	3	1	22	1	0	0	0	0	1	0	0	0	17600	1087	38	1	1199	1	ZBTB4	17	7366455	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106	7366455	73828755	16283	18429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													138	589					0	0	1	0	0	A	7367040	G	A	7367040	3	1	22	1	0	0	0	0	1	0	0	0	17600	1086	38	1	1784	1	ZBTB4	17	7367040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	585	7367040	73828170	16284	18430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000928.1	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													17	389					0	0	1	0	0	T	7405894	C	T	7405894	3	4	22	1	0	0	0	0	1	0	0	0	12262	768	27	1	2692	1	POLR2A	17	7405894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38854	7405894	73789316	16285	18431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000928.1	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													50	231					1.86633e-21	2.10207e-21	1	1	0	T	7406566	G	T	7406566	3	4	22	1	0	0	0	0	1	0	0	0	12262	991	35	2	2949	2	POLR2A	17	7406566	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	672	7406566	73788644	16286	18432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000928.1	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													13	262					2.27111e-07	2.35674e-07	1	1	0	A	7417442	C	A	7417442	2	1	22	1	0	0	0	0	0	0	0	1	12262	668	24	2		2	POLR2A	17	7417442	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10876	7417442	73777768	16287	18433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000293825.6_Missense_Mutation_p.E152K|TNFSF12_ENST00000557233.1_Missense_Mutation_p.E152K|TNFSF12_ENST00000462811.1_3'UTR	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													23	133					0	0	1	0	0	A	7460175	G	A	7460175	3	1	22	1	0	0	0	0	1	0	0	0	16364	1175	41	2	476	2	TNFSF12-TNFSF13	17	7460175	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42733	7460175	73735035	16288	18434											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7463164G>T	ENST00000338784.4	+	3	782	c.337_splice	c.e3-1	p.K113_splice	TNFSF13_ENST00000380535.4_Intron|TNFSF13_ENST00000349228.4_Intron|TNFSF13_ENST00000396545.4_Splice_Site_p.K113_splice|TNFSF12-TNFSF13_ENST00000293826.4_Splice_Site_p.K193_splice|TNFSF12_ENST00000557233.1_Splice_Site_p.K193_splice|TNFSF13_ENST00000483039.1_5'UTR|TNFSF13_ENST00000396542.1_Intron	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)	14	462					1.05317e-09	1.11087e-09	1	1	0	T	7463164	G	T	7463164	5	4	22	1	0	0	0	0	0	0	1	0	16365	985	34	2	349	2	TNFSF13	17	7463164	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2989	7463164	73732046	16289	18435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380535.4_Missense_Mutation_p.Q121H|TNFSF13_ENST00000338784.4_Missense_Mutation_p.Q149H|TNFSF13_ENST00000396545.4_Missense_Mutation_p.Q149H|TNFSF12-TNFSF13_ENST00000293826.4_Missense_Mutation_p.Q229H|TNFSF12_ENST00000557233.1_Missense_Mutation_p.Q229H|TNFSF13_ENST00000483039.1_Missense_Mutation_p.Q13H|TNFSF13_ENST00000396542.1_Missense_Mutation_p.Q104H	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)	20	607					2.37509e-13	2.56396e-13	1	1	0	T	7463427	G	T	7463427	3	4	22	1	0	0	0	0	1	0	0	0	16365	991	35	2	461	2	TNFSF13	17	7463427	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263	7463427	73731783	16290	18436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000578868.1_3'UTR|SENP3_ENST00000429205.2_Missense_Mutation_p.Q286H	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													9	273					5.4927e-09	5.7613e-09	1	1	0	T	7468084	G	T	7468084	3	4	22	1	0	0	0	0	1	0	0	0	14102	991	35	2	864	2	SENP3	17	7468084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4657	7468084	73727126	16291	18437											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	295					0	0	1	0	0	A	7496331	G	A	7496331	3	1	22	1	0	0	0	0	1	0	0	0	6151	1059	37	1	442	1	FXR2	17	7496331	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28247	7496331	73698879	16292	18438											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	162					0	0	1	0	0	C	7497589	T	C	7497589	2	2	22	1	0	0	0	0	0	0	0	1	6151	1606	56	3		3	FXR2	17	7497589	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1258	7497589	73697621	16293	18439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380466.2_5'UTR|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000575314.1_Intron|SAT2_ENST00000573566.1_Missense_Mutation_p.L20M|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000572262.1_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													51	247					4.86159e-25	5.57236e-25	1	1	0	T	7530896	G	T	7530896	3	4	22	1	0	0	0	0	1	0	0	0	13905	962	34	2	478	2	SAT2	17	7530896	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33307	7530896	73664314	16294	18440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													315	1289					0	0	1	0	0	T	7660422	C	T	7660422	3	4	22	1	0	0	0	0	1	0	0	0	4630	913	32	2	1964	2	DNAH2	17	7660422	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129526	7660422	73534788	16295	18441											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	273					0	0	1	0	0	T	7667264	C	T	7667264	4	4	22	1	0	0	0	0	0	1	0	0	4630	711	25	2	3164	2	DNAH2	17	7667264	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6842	7667264	73527946	16296	18442											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	177					0	0	1	0	0	C	7689644	A	C	7689644	3	2	22	1	0	0	0	0	1	0	0	0	4630	43	2	3	6486	3	DNAH2	17	7689644	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22380	7689644	73505566	16297	18443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	316					0	0	1	0	0	T	7691221	C	T	7691221	3	4	22	1	0	0	0	0	1	0	0	0	4630	652	23	1	6813	1	DNAH2	17	7691221	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1577	7691221	73503989	16298	18444											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	282					1.04594e-18	1.16214e-18	1	1	0	A	7691258	C	A	7691258	3	1	22	1	0	0	0	0	1	0	0	0	4630	564	20	2	6850	2	DNAH2	17	7691258	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37	7691258	73503952	16299	18445											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	238					1.69475e-38	2.04315e-38	1	1	0	T	7699832	G	T	7699832	3	4	22	1	0	0	0	0	1	0	0	0	4630	991	35	2	7919	2	DNAH2	17	7699832	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8574	7699832	73495378	16300	18446											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	412					0	0	1	0	0	G	7702026	A	G	7702026	3	3	22	1	0	0	0	0	1	0	0	0	4630	246	9	3	8763	3	DNAH2	17	7702026	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2194	7702026	73493184	16301	18447											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													181	790					0	0	1	0	0	A	7735942	G	A	7735942	3	1	22	1	0	0	0	0	1	0	0	0	4630	1203	42	2	13098	2	DNAH2	17	7735942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33916	7735942	73459268	16302	18448											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	138					7.04047e-22	7.94894e-22	1	1	0	T	7750937	G	T	7750937	3	4	22	1	0	0	0	0	1	0	0	0	8181	971	34	2	1361	2	KDM6B	17	7750937	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14995	7750937	73444273	16303	18449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	390					0	0	1	0	0	A	7751581	G	A	7751581	3	1	22	1	0	0	0	0	1	0	0	0	8181	1116	39	1	2005	1	KDM6B	17	7751581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	644	7751581	73443629	16304	18450											
KDM6B	23135	broad.mit.edu	37	chr17	7751765	7751765	+	Frame_Shift_Del	DEL	C	C	-													acaacacgaagcaggcgtggCcccccaacccccgctgaagg					rs146391855		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7751765delC	ENST00000254846.5	+	11	2548	c.2159delC	c.(2158-2160)gcfs	p.A720fs	KDM6B_ENST00000448097.2_Frame_Shift_Del_p.A720fs	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	720	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						GCAGGCGTGGCCCCCCAACCC	0.582													13	908	---	---	---	---						-	7751765	C	-	7751765	7	5	22	1	0	1	0	1	0	0	0	0	8181	739	26	0	2189	0	KDM6B	17	7751765	Frame_Shift_Del	DEL	C	TCGA-IB-7651-01A-11D-2154-08	184	7751765	73443445	16305	18451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	94					0	0	1	0	0	A	7752715	G	A	7752715	3	1	22	1	0	0	0	0	1	0	0	0	8181	1058	37	1	3139	1	KDM6B	17	7752715	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	950	7752715	73442495	16306	18452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	409					0	0	1	0	0	A	7754506	G	A	7754506	3	1	22	1	0	0	0	0	1	0	0	0	8181	1087	38	1	3883	1	KDM6B	17	7754506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1791	7754506	73440704	16307	18453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000335155.5_Intron|LSMD1_ENST00000575771.1_Intron|LSMD1_ENST00000575208.1_Intron|LSMD1_ENST00000575071.1_Intron|LSMD1_ENST00000576861.1_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													48	268					0	0	1	0	0	A	7760629	G	A	7760629	3	1	22	1	0	0	0	0	1	0	0	0	9107	971	34	2	416	2	LSMD1	17	7760629	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6123	7760629	73434581	16308	18454											
CHD3	1107	broad.mit.edu	37	chr17	7794054	7794055	+	Frame_Shift_Ins	INS	-	-	A													gggggagggagatggggggcINSaaaaggtgagtagaattagg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7794054_7794055insA	ENST00000380358.4	+	3	557_558	c.556_557insA	c.(556-558)aaafs	p.K186fs	CHD3_ENST00000330494.7_Frame_Shift_Ins_p.K127fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.K127fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	127					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)				AGATGGGGGGCAAAAGGTGAGT	0.51													22	86	---	---	---	---						A	7794055	-	A	7794054	7	5	22	1	0	1	1	0	0	0	0	0	3348	711	25	0	670	0	CHD3	17	7794054	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	33425	7794054	73401156	16309	18455											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330494.7_Missense_Mutation_p.P612Q|CHD3_ENST00000358181.4_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													83	365					3.30373e-36	3.95205e-36	1	1	0	A	7800528	C	A	7800528	3	1	22	1	0	0	0	0	1	0	0	0	3348	652	23	4	2158	4	CHD3	17	7800528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6474	7800528	73394682	16310	18456											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330494.7_Missense_Mutation_p.R887Q|CHD3_ENST00000358181.4_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													24	138					0	0	1	0	0	A	7803329	G	A	7803329	3	1	22	1	0	0	0	0	1	0	0	0	3348	1058	37	1	3003	1	CHD3	17	7803329	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2801	7803329	73391881	16311	18457											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330494.7_Silent_p.G1174G|CHD3_ENST00000358181.4_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													89	311					0	0	1	0	0	T	7806616	C	T	7806616	2	4	22	1	0	0	0	0	0	0	0	1	3348	726	26	2		2	CHD3	17	7806616	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3287	7806616	73388594	16312	18458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330494.7_Silent_p.P1604P|CHD3_ENST00000358181.4_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													40	174					0	0	1	0	0	G	7810694	A	G	7810694	2	3	22	1	0	0	0	0	0	0	0	1	3348	204	8	3		3	CHD3	17	7810694	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4078	7810694	73384516	16313	18459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330494.7_Nonsense_Mutation_p.R1698*|CHD3_ENST00000358181.4_Nonsense_Mutation_p.R1664*	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													83	428					0	0	1	0	0	T	7811277	C	T	7811277	4	4	22	1	0	0	0	0	0	1	0	0	3348	528	19	1	5507	1	CHD3	17	7811277	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	583	7811277	73383933	16314	18460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330494.7_Silent_p.G1941G|CHD3_ENST00000358181.4_Silent_p.G1907G	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													70	1016					0	0	1	0	0	A	7814233	G	A	7814233	2	1	22	1	0	0	0	0	0	0	0	1	3348	1219	43	2		2	CHD3	17	7814233	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2956	7814233	73380977	16315	18461											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	329					0	0	1	0	0	A	7834371	G	A	7834371	2	1	22	1	0	0	0	0	0	0	0	1	16517	1074	38	1		1	TRAPPC1	17	7834371	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20138	7834371	73360839	16316	18462											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	962					0	0	1	0	0	T	7840525	C	T	7840525	3	4	22	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	16317	18463											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	253					0	0	1	0	0	A	7846813	G	A	7846813	2	1	22	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	16318	18464											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			194	806					0	0	1	0	0	A	7976504	G	A	7976504	2	1	22	1	0	0	0	0	0	0	0	1	533	962	34	2		2	ALOX12B	17	7976504	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129691	7976504	73218706	16319	18465											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			218	987					8.90406e-74	1.13387e-73	1	1	0	A	7978974	C	A	7978974	2	1	22	1	0	0	0	0	0	0	0	1	533	639	23	4		4	ALOX12B	17	7978974	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2470	7978974	73216236	16320	18466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			35	642					0	0	1	0	0	T	7984225	C	T	7984225	2	4	22	1	0	0	0	0	0	0	0	1	533	738	26	2		2	ALOX12B	17	7984225	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5251	7984225	73210985	16321	18467											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					32	178					0	0	1	0	0	T	8051103	C	T	8051103	3	4	22	1	0	0	0	0	1	0	0	0	11776	768	27	1	2647	1	PER1	17	8051103	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66878	8051103	73144107	16322	18468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					18	1271					0	0	1	0	0	G	8053110	A	G	8053110	3	3	22	1	0	0	0	0	1	0	0	0	11776	188	7	3	3334	3	PER1	17	8053110	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2007	8053110	73142100	16323	18469											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	392					4.00701e-44	4.89994e-44	1	1	0	A	8161476	C	A	8161476	3	1	22	1	0	0	0	0	1	0	0	0	11802	855	30	2	1333	2	PFAS	17	8161476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108366	8161476	73033734	16324	18470											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	686					0	0	1	0	0	G	8166542	A	G	8166542	3	3	22	1	0	0	0	0	1	0	0	0	11802	43	2	3	1572	3	PFAS	17	8166542	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5066	8166542	73028668	16325	18471											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	193					0	0	1	0	0	T	8168391	C	T	8168391	3	4	22	1	0	0	0	0	1	0	0	0	11802	739	26	2	2294	2	PFAS	17	8168391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1849	8168391	73026819	16326	18472											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	466					0	0	1	0	0	A	8168671	G	A	8168671	2	1	22	1	0	0	0	0	0	0	0	1	11802	1103	39	1		1	PFAS	17	8168671	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	280	8168671	73026539	16327	18473											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	253					0	0	1	0	0	C	8169597	T	C	8169597	3	2	22	1	0	0	0	0	1	0	0	0	11802	1667	58	3	2829	3	PFAS	17	8169597	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	926	8169597	73025613	16328	18474											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	225					0	0	1	0	0	T	8171913	C	T	8171913	3	4	22	1	0	0	0	0	1	0	0	0	11802	759	27	1	3547	1	PFAS	17	8171913	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2316	8171913	73023297	16329	18475											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000580340.1_Silent_p.S105S|SLC25A35_ENST00000396278.1_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													42	234					0	0	1	0	0	A	8197811	G	A	8197811	2	1	22	1	0	0	0	0	0	0	0	1	14554	1078	38	1		1	SLC25A35	17	8197811	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25898	8197811	72997399	16330	18476											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													134	496					6.58568e-60	8.27548e-60	1	1	0	A	8215524	C	A	8215524	3	1	22	1	0	0	0	0	1	0	0	0	895	594	21	2	169	2	ARHGEF15	17	8215524	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17713	8215524	72979686	16331	18477											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000421050.1_Missense_Mutation_p.Q694H|ARHGEF15_ENST00000582060.1_Splice_Site	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													105	476					7.59261e-44	9.28096e-44	1	1	0	T	8222373	G	T	8222373	3	4	22	1	0	0	0	0	1	0	0	0	895	991	35	2	2128	2	ARHGEF15	17	8222373	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6849	8222373	72972837	16332	18478											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	87					0	0	1	0	0	C	8243676	A	C	8243676	3	2	22	1	0	0	0	0	1	0	0	0	10881	247	9	3	309	3	ODF4	17	8243676	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21303	8243676	72951534	16333	18479											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000331336.2_Missense_Mutation_p.P475L|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR			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													85	380					0	0	1	0	0	A	8272507	G	A	8272507	3	1	22	1	0	0	0	0	1	0	0	0	8483	1000	35	2	58	2	KRBA2	17	8272507	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28831	8272507	72922703	16334	18480											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000396267.1_Intron|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR	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													35	196					2.42023e-17	2.67004e-17	1	1	0	T	8274848	G	T	8274848	3	4	22	1	0	0	0	0	1	0	0	0	8483	1000	35	2	1481	2	KRBA2	17	8274848	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2341	8274848	72920362	16335	18481											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402554.3_Silent_p.S194S|NDEL1_ENST00000380025.4_Silent_p.S194S|NDEL1_ENST00000299734.7_Silent_p.S194S|NDEL1_ENST00000585098.1_Intron	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													50	172					0	0	1	0	0	A	8354153	G	A	8354153	2	1	22	1	0	0	0	0	0	0	0	1	10291	1103	39	1		1	NDEL1	17	8354153	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79305	8354153	72841057	16336	18482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402554.3_Silent_p.T245T|NDEL1_ENST00000380025.4_Silent_p.T245T|NDEL1_ENST00000299734.7_Silent_p.T245T|NDEL1_ENST00000585098.1_Intron	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													196	889					0	0	1	0	0	C	8358148	T	C	8358148	2	2	22	1	0	0	0	0	0	0	0	1	10291	1538	54	3		3	NDEL1	17	8358148	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3995	8358148	72837062	16337	18483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000269243.4_Missense_Mutation_p.A1893V|MYH10_ENST00000396239.1_Missense_Mutation_p.A1914V|MYH10_ENST00000379980.4_Missense_Mutation_p.A1909V	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													62	242					0	0	1	0	0	A	8380302	G	A	8380302	3	1	22	1	0	0	0	0	1	0	0	0	10078	1087	38	1	260	1	MYH10	17	8380302	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22154	8380302	72814908	16338	18484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000269243.4_Silent_p.R1863R|MYH10_ENST00000396239.1_Silent_p.R1884R|MYH10_ENST00000379980.4_Silent_p.R1879R	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													26	512					0	0	1	0	0	C	8381680	T	C	8381680	2	2	22	1	0	0	0	0	0	0	0	1	10078	1654	58	3		3	MYH10	17	8381680	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1378	8381680	72813530	16339	18485											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379980.4_Silent_p.I1649I|MYH10_ENST00000269243.4_Silent_p.I1633I	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													263	1053					0	0	1	0	0	A	8390805	G	A	8390805	2	1	22	1	0	0	0	0	0	0	0	1	10078	1048	37	1		1	MYH10	17	8390805	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9125	8390805	72804405	16340	18486											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379980.4_Missense_Mutation_p.E521K|MYH10_ENST00000269243.4_Missense_Mutation_p.E505K	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													69	305					0	0	1	0	0	T	8445487	C	T	8445487	3	4	22	1	0	0	0	0	1	0	0	0	10078	893	31	1	4533	1	MYH10	17	8445487	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54682	8445487	72749723	16341	18487											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379980.4_Missense_Mutation_p.R455H|MYH10_ENST00000269243.4_Missense_Mutation_p.R439H	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													93	388					0	0	1	0	0	T	8448851	C	T	8448851	3	4	22	1	0	0	0	0	1	0	0	0	10078	768	27	1	4734	1	MYH10	17	8448851	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3364	8448851	72746359	16342	18488											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	184					0	0	1	0	0	G	8633478	T	G	8633478	3	3	22	1	0	0	0	0	1	0	0	0	2833	1838	64	3	33	3	CCDC42	17	8633478	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	184627	8633478	72561732	16343	18489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	248					0	0	1	0	0	G	8638511	A	G	8638511	3	3	22	1	0	0	0	0	1	0	0	0	2833	101	4	3	182	3	CCDC42	17	8638511	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5033	8638511	72556699	16344	18490											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	335					1.78197e-24	2.03739e-24	1	1	0	T	8638779	G	T	8638779	3	4	22	1	0	0	0	0	1	0	0	0	2833	991	35	2	319	2	CCDC42	17	8638779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	268	8638779	72556431	16345	18491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	302					9.07738e-34	1.07712e-33	1	1	0	T	8702270	G	T	8702270	3	4	22	1	0	0	0	0	1	0	0	0	9586	991	35	2	1595	2	MFSD6L	17	8702270	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63491	8702270	72492940	16346	18492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	34					0	0	1	0	0	A	8725208	G	A	8725208	3	1	22	1	0	0	0	0	1	0	0	0	11971	1203	42	2	445	2	PIK3R6	17	8725208	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22938	8725208	72470002	16347	18493											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	351					0	0	1	0	0	A	8731458	G	A	8731458	3	1	22	1	0	0	0	0	1	0	0	0	11971	971	34	2	936	2	PIK3R6	17	8731458	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6250	8731458	72463752	16348	18494											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	42					0	0	1	0	0	A	8741937	G	A	8741937	4	1	22	1	0	0	0	0	0	1	0	0	11971	1095	38	1	2198	1	PIK3R6	17	8741937	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10479	8741937	72453273	16349	18495											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000581552.1_Missense_Mutation_p.P417S|PIK3R5_ENST00000584803.1_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													23	90					0	0	1	0	0	A	8791855	G	A	8791855	3	1	22	1	0	0	0	0	1	0	0	0	11970	1203	42	2	1433	2	PIK3R5	17	8791855	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49918	8791855	72403355	16350	18496											
PIK3R5	23533	broad.mit.edu	37	chr17	8792116	8792118	+	In_Frame_Del	DEL	CCT	CCT	-													agtttccaagtcctcctccaCctcctcctcctcctcttcct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8792116_8792118delCCT	ENST00000447110.1	-	10	1110_1112	c.986_988delAGG	c.(985-990)gtg>g	p.EV329del	PIK3R5_ENST00000581552.1_In_Frame_Del_p.EV329del|PIK3R5_ENST00000584803.1_In_Frame_Del_p.EV329del	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	329				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	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						tcctcctccacctcctcctcctc	0.571													7	216	---	---	---	---						-	8792118	CCT	-	8792116	7	5	22	1	0	1	0	1	0	0	0	0	11970	507	18	0	1694	0	PIK3R5	17	8792116	In_Frame_Del	DEL	CCT	TCGA-IB-7651-01A-11D-2154-08	261	8792116	72403094	16351	18497											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9471724T>C	ENST00000306357.3	-	2	508	c.81A>G	c.(79-81)cgA>cgG	p.R27R	STX8_ENST00000573077.3_5'UTR|STX8_ENST00000574431.1_Intron|STX8_ENST00000573373.1_Silent_p.R27R	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	27					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													12	84					0	0	1	0	0	C	9471724	T	C	9471724	2	2	22	1	0	0	0	0	0	0	0	1	15407	1770	62	3		3	STX8	17	9471724	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	679608	9471724	71723486	16352	18498											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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													159	652					0	0	1	0	0	A	9489210	G	A	9489210	3	1	22	1	0	0	0	0	1	0	0	0	17336	1203	42	2	197	2	WDR16	17	9489210	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17486	9489210	71706000	16353	18499											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000576714.1_3'UTR|WDR16_ENST00000299764.5_Missense_Mutation_p.V474A|WDR16_ENST00000396219.3_Missense_Mutation_p.V396A	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													63	252					0	0	1	0	0	C	9538792	T	C	9538792	3	2	22	1	0	0	0	0	1	0	0	0	17336	1696	59	3	1433	3	WDR16	17	9538792	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49582	9538792	71656418	16354	18500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9631500C>T	ENST00000570827.2	+	15	2706	c.1632C>T	c.(1630-1632)ggC>ggT	p.G544G	USP43_ENST00000285199.6_Silent_p.G855G|USP43_ENST00000570475.1_Silent_p.G850G			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	855					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													39	128					0	0	1	0	0	T	9631500	C	T	9631500	2	4	22	1	0	0	0	0	0	0	0	1	17134	697	25	2		2	USP43	17	9631500	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92708	9631500	71563710	16355	18501											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	216					4.13886e-29	4.83036e-29	1	1	0	T	9745927	G	T	9745927	3	4	22	1	0	0	0	0	1	0	0	0	6495	962	34	2	512	2	GLP2R	17	9745927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114427	9745927	71449283	16356	18502											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9764515G>T	ENST00000262441.5	+	8	1498	c.986_splice	c.e8+1	p.G329_splice	GLP2R_ENST00000574745.1_Splice_Site_p.G149_splice	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													120	461					1.04472e-88	1.3402e-88	1	1	0	T	9764515	G	T	9764515	5	4	22	1	0	0	0	0	0	0	1	0	6495	1014	35	2	1015	2	GLP2R	17	9764515	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18588	9764515	71430695	16357	18503											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	858					0	0	1	0	0	C	9783772	A	C	9783772	3	2	22	1	0	0	0	0	1	0	0	0	6495	130	5	3	1265	3	GLP2R	17	9783772	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19257	9783772	71411438	16358	18504											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9821334T>C	ENST00000396115.1	-	13	1431	c.1121A>G	c.(1120-1122)gAc>gGc	p.D374G	GAS7_ENST00000432992.2_Missense_Mutation_p.D434G|GAS7_ENST00000580865.1_Missense_Mutation_p.D294G|GAS7_ENST00000437099.2_Missense_Mutation_p.D370G|GAS7_ENST00000579158.1_Missense_Mutation_p.D386G|GAS7_ENST00000323816.4_Missense_Mutation_p.D370G|GAS7_ENST00000540214.1_Missense_Mutation_p.D139G|GAS7_ENST00000542249.1_Missense_Mutation_p.D379G|GAS7_ENST00000585266.1_Missense_Mutation_p.D370G|GAS7_ENST00000583882.1_Intron	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	434					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*								43	186					0	0	1	0	0	C	9821334	T	C	9821334	3	2	22	1	0	0	0	0	1	0	0	0	6290	1667	58	3	137	3	GAS7	17	9821334	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37562	9821334	71373876	16359	18505											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9837492G>T	ENST00000396115.1	-	9	1006	c.696C>A	c.(694-696)ttC>ttA	p.F232L	GAS7_ENST00000432992.2_Missense_Mutation_p.F292L|GAS7_ENST00000580865.1_Missense_Mutation_p.F152L|GAS7_ENST00000437099.2_Missense_Mutation_p.F228L|GAS7_ENST00000579158.1_Missense_Mutation_p.F244L|GAS7_ENST00000323816.4_Missense_Mutation_p.F228L|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000542249.1_Missense_Mutation_p.F237L|GAS7_ENST00000585266.1_Missense_Mutation_p.F228L|GAS7_ENST00000583882.1_Intron	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	292	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*								22	165					1.22574e-08	1.28258e-08	1	1	0	T	9837492	G	T	9837492	3	4	22	1	0	0	0	0	1	0	0	0	6290	933	33	2	578	2	GAS7	17	9837492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16158	9837492	71357718	16360	18506											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MYH13_ENST00000570743.1_Silent_p.L1605L|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													15	57					0	0	1	0	0	A	10212991	G	A	10212991	2	1	22	1	0	0	0	0	0	0	0	1	10080	962	34	2		2	MYH13	17	10212991	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	375499	10212991	70982219	16361	18507											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MYH13_ENST00000570743.1_Missense_Mutation_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													64	297					3.94896e-32	4.66014e-32	1	1	0	A	10227477	C	A	10227477	3	1	22	1	0	0	0	0	1	0	0	0	10080	680	24	2	3096	2	MYH13	17	10227477	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14486	10227477	70967733	16362	18508											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000570743.1_Silent_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													57	826					0	0	1	0	0	T	10265484	C	T	10265484	2	4	22	1	0	0	0	0	0	0	0	1	10080	755	27	1		1	MYH13	17	10265484	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38007	10265484	70929726	16363	18509											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_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				83	434					0	0	1	0	0	A	10293915	T	A	10293915	3	1	22	1	0	0	0	0	1	0	0	0	10089	1722	60	5	147	5	MYH8	17	10293915	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28431	10293915	70901295	16364	18510											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_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				53	288					0	0	1	0	0	T	10299984	C	T	10299984	3	4	22	1	0	0	0	0	1	0	0	0	10089	739	26	2	1435	2	MYH8	17	10299984	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6069	10299984	70895226	16365	18511											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_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				13	203					0	0	1	0	0	A	10304205	T	A	10304205	3	1	22	1	0	0	0	0	1	0	0	0	10089	1609	56	5	2547	5	MYH8	17	10304205	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4221	10304205	70891005	16366	18512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_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				97	381					0	0	1	0	0	A	10318882	G	A	10318882	2	1	22	1	0	0	0	0	0	0	0	1	10089	1103	39	1		1	MYH8	17	10318882	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14677	10318882	70876328	16367	18513											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_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				188	711					0	0	1	0	0	T	10323446	C	T	10323446	2	4	22	1	0	0	0	0	0	0	0	1	10089	523	19	1		1	MYH8	17	10323446	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4564	10323446	70871764	16368	18514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_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													113	513					1.76042e-48	2.17308e-48	1	1	0	A	10346788	C	A	10346788	3	1	22	1	0	0	0	0	1	0	0	0	10085	680	24	2	99	2	MYH4	17	10346788	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23342	10346788	70848422	16369	18515											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_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													87	817					0	0	1	0	0	T	10348418	C	T	10348418	3	4	22	1	0	0	0	0	1	0	0	0	10085	768	27	1	494	1	MYH4	17	10348418	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1630	10348418	70846792	16370	18516											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_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													99	369					0	0	1	0	0	A	10360803	G	A	10360803	2	1	22	1	0	0	0	0	0	0	0	1	10085	962	34	2		2	MYH4	17	10360803	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12385	10360803	70834407	16371	18517											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_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													97	524					0	0	1	0	0	T	10397923	C	T	10397923	3	4	22	1	0	0	0	0	1	0	0	0	10077	768	27	1	297	1	MYH1	17	10397923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37120	10397923	70797287	16372	18518											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_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													125	584					0	0	1	0	0	T	10399596	C	T	10399596	3	4	22	1	0	0	0	0	1	0	0	0	10077	739	26	2	920	2	MYH1	17	10399596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1673	10399596	70795614	16373	18519											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10409416C>T	ENST00000226207.5	-	18	2063	c.1968_splice	c.e18-1	p.E657_splice	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_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													105	451					0	0	1	0	0	T	10409416	C	T	10409416	5	4	22	1	0	0	0	0	0	0	1	0	10077	869	30	2	3942	2	MYH1	17	10409416	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9820	10409416	70785794	16374	18520											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_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													242	968					0	0	1	0	0	T	10415238	C	T	10415238	3	4	22	1	0	0	0	0	1	0	0	0	10077	768	27	1	4593	1	MYH1	17	10415238	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5822	10415238	70779972	16375	18521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E691D|MYH2_ENST00000532183.1_Intron	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													60	240					9.72345e-25	1.11288e-24	1	1	0	A	10438497	C	A	10438497	3	1	22	1	0	0	0	0	1	0	0	0	10083	796	28	2	3840	2	MYH2	17	10438497	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23259	10438497	70756713	16376	18522											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.K297T|MYH2_ENST00000532183.1_Missense_Mutation_p.K297T	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													29	120					0	0	1	0	0	G	10446206	T	G	10446206	3	3	22	1	0	0	0	0	1	0	0	0	10083	1841	64	3	5059	3	MYH2	17	10446206	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7709	10446206	70749004	16377	18523											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	360					0	0	1	0	0	C	10532983	T	C	10532983	2	2	22	1	0	0	0	0	0	0	0	1	10084	1722	60	3		3	MYH3	17	10532983	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	86777	10532983	70662227	16378	18524											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													129	591					1.3892e-51	1.72483e-51	1	1	0	A	10545853	C	A	10545853	3	1	22	1	0	0	0	0	1	0	0	0	10084	565	20	2	4157	2	MYH3	17	10545853	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12870	10545853	70649357	16379	18525											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	512					0	0	1	0	0	T	10547728	C	T	10547728	2	4	22	1	0	0	0	0	0	0	0	1	10084	871	31	1		1	MYH3	17	10547728	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1875	10547728	70647482	16380	18526											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	250					0	0	1	0	0	C	10595270	T	C	10595270	3	2	22	1	0	0	0	0	1	0	0	0	13985	1725	60	3	343	3	SCO1	17	10595270	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47542	10595270	70599940	16381	18527											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11532779G>T	ENST00000262442.3	+	7	1464	c.1396G>T	c.(1396-1398)Gag>Tag	p.E466*	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E466*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	466	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													60	342					7.38948e-41	8.96867e-41	1	1	0	T	11532779	G	T	11532779	4	4	22	1	0	0	0	0	0	1	0	0	4635	1175	41	2	1422	2	DNAH9	17	11532779	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	937509	11532779	69662431	16382	18528											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11532855G>T	ENST00000262442.3	+	7	1540	c.1472G>T	c.(1471-1473)aGg>aTg	p.R491M	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.R491M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	491	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													48	365					8.00217e-19	8.90025e-19	1	1	0	T	11532855	G	T	11532855	3	4	22	1	0	0	0	0	1	0	0	0	4635	1000	35	2	1498	2	DNAH9	17	11532855	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76	11532855	69662355	16383	18529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11535968C>T	ENST00000262442.3	+	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	528	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													80	452					0	0	1	0	0	T	11535968	C	T	11535968	3	4	22	1	0	0	0	0	1	0	0	0	4635	565	20	2	1613	2	DNAH9	17	11535968	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3113	11535968	69659242	16384	18530											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11556085C>T	ENST00000262442.3	+	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	787	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													65	342					0	0	1	0	0	T	11556085	C	T	11556085	2	4	22	1	0	0	0	0	0	0	0	1	4635	776	27	1		1	DNAH9	17	11556085	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20117	11556085	69639125	16385	18531											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11645572C>T	ENST00000262442.3	+	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	2018	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													87	390					0	0	1	0	0	T	11645572	C	T	11645572	3	4	22	1	0	0	0	0	1	0	0	0	4635	838	29	2	6171	2	DNAH9	17	11645572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89487	11645572	69549638	16386	18532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11650903C>T	ENST00000262442.3	+	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	2144	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													41	183					0	0	1	0	0	T	11650903	C	T	11650903	3	4	22	1	0	0	0	0	1	0	0	0	4635	759	27	1	6556	1	DNAH9	17	11650903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5331	11650903	69544307	16387	18533											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11684429G>T	ENST00000262442.3	+	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	2552	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													30	176					1.38854e-25	1.59452e-25	1	1	0	T	11684429	G	T	11684429	2	4	22	1	0	0	0	0	0	0	0	1	4635	1335	47	2		2	DNAH9	17	11684429	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33526	11684429	69510781	16388	18534											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11687764G>A	ENST00000262442.3	+	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	2657	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													139	721					0	0	1	0	0	A	11687764	G	A	11687764	3	1	22	1	0	0	0	0	1	0	0	0	4635	1087	38	1	8131	1	DNAH9	17	11687764	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3335	11687764	69507446	16389	18535											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11696901T>C	ENST00000262442.3	+	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	2715					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													86	382					0	0	1	0	0	C	11696901	T	C	11696901	3	2	22	1	0	0	0	0	1	0	0	0	4635	1754	61	3	8309	3	DNAH9	17	11696901	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9137	11696901	69498309	16390	18536											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11711199C>A	ENST00000262442.3	+	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	2857	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													52	186					3.68337e-26	4.24002e-26	1	1	0	A	11711199	C	A	11711199	2	1	22	1	0	0	0	0	0	0	0	1	4635	845	30	2		2	DNAH9	17	11711199	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14298	11711199	69484011	16391	18537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11757669G>A	ENST00000262442.3	+	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	3286	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													114	478					0	0	1	0	0	A	11757669	G	A	11757669	3	1	22	1	0	0	0	0	1	0	0	0	4635	1087	38	1	10055	1	DNAH9	17	11757669	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46470	11757669	69437541	16392	18538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11845625G>A	ENST00000262442.3	+	67	12734	c.12666G>A	c.(12664-12666)aaG>aaA	p.K4222K	DNAH9_ENST00000396001.2_Silent_p.K534K|DNAH9_ENST00000454412.2_Silent_p.K4146K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4222					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													146	759					0	0	1	0	0	A	11845625	G	A	11845625	2	1	22	1	0	0	0	0	0	0	0	1	4635	991	35	2		2	DNAH9	17	11845625	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87956	11845625	69349585	16393	18539											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11865483G>A	ENST00000262442.3	+	68	13211	c.13143G>A	c.(13141-13143)acG>acA	p.T4381T	DNAH9_ENST00000396001.2_Silent_p.T693T|DNAH9_ENST00000454412.2_Silent_p.T4305T|RP11-1096G20.5_ENST00000580270.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4381					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													32	358					0	0	1	0	0	A	11865483	G	A	11865483	2	1	22	1	0	0	0	0	0	0	0	1	4635	1045	37	1		1	DNAH9	17	11865483	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19858	11865483	69329727	16394	18540											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000580613.1_5'UTR|ZNF18_ENST00000580306.1_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													69	334					2.26907e-38	2.73382e-38	1	1	0	T	11896000	G	T	11896000	4	4	22	1	0	0	0	0	0	1	0	0	17805	1256	44	2	1526	2	ZNF18	17	11896000	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30517	11896000	69299210	16395	18541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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"								102	357					0	0	1	0	0	G	11984701	T	G	11984701	3	3	22	1	0	0	0	0	1	0	0	0	9289	1667	58	3	257	3	MAP2K4	17	11984701	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88701	11984701	69210509	16396	18542											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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"								16	335					5.35267e-07	5.54261e-07	1	1	0	A	12032574	C	A	12032574	3	1	22	1	0	0	0	0	1	0	0	0	9289	855	30	2	1044	2	MAP2K4	17	12032574	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47873	12032574	69162636	16397	18543											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	235					0	0	1	0	0	A	12903496	G	A	12903496	3	1	22	1	0	0	0	0	1	0	0	0	5075	1087	38	1	1120	1	ELAC2	17	12903496	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	870922	12903496	68291714	16398	18544											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	231					0	0	1	0	0	A	12903547	G	A	12903547	3	1	22	1	0	0	0	0	1	0	0	0	5075	1087	38	1	1171	1	ELAC2	17	12903547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51	12903547	68291663	16399	18545											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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													89	356					7.83748e-43	9.55338e-43	1	1	0	T	12909125	G	T	12909125	3	4	22	1	0	0	0	0	1	0	0	0	5075	971	34	2	1725	2	ELAC2	17	12909125	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5578	12909125	68286085	16400	18546											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	432					0	0	1	0	0	T	15212016	C	T	15212016	2	4	22	1	0	0	0	0	0	0	0	1	15813	871	31	1		1	TEKT3	17	15212016	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2302891	15212016	65983194	16401	18547											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	106					0	0	1	0	0	T	15234932	C	T	15234932	5	4	22	1	0	0	0	0	0	0	1	0	15813	695	24	2		2	TEKT3	17	15234932	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22916	15234932	65960278	16402	18548											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_5'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													61	228					4.45325e-31	5.23636e-31	1	1	0	T	15341153	G	T	15341153	3	4	22	1	0	0	0	0	1	0	0	0	3198	1020	36	2	66	2	CDRT4	17	15341153	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106221	15341153	65854057	16403	18549											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_5'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													89	418					0	0	1	0	0	G	15341418	A	G	15341418	3	3	22	1	0	0	0	0	1	0	0	0	3198	101	4	3	331	3	CDRT4	17	15341418	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	265	15341418	65853792	16404	18550											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													129	651					0	0	1	0	0	A	15522551	G	A	15522551	2	1	22	1	0	0	0	0	0	0	0	1	3196	1048	37	1		1	CDRT1	17	15522551	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181133	15522551	65672659	16405	18551											
TRIM16	10626	broad.mit.edu	37	chr17	15532139	15532139	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggaagtcgatatagaccccGagcctccggaaagggccagc	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15532139G>A	ENST00000578237.1	-	11	2340	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L	TRIM16_ENST00000336708.7_Silent_p.L495L|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000577886.1_Silent_p.L279L|TRIM16_ENST00000416464.2_Silent_p.L365L|TRIM16_ENST00000579219.1_3'UTR					tripartite motif containing 16											breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		TATAGACCCCGAGCCTCCGGA	0.522													27	435					0	0	1	0	0	A	15532139	G	A	15532139	2	1	22	1	0	0	0	0	0	0	0	1	16552	1045	37	1		1	TRIM16	17	15532139	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9588	15532139	65663071	16406	18552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395894.2_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.R337Q|ZNF286A_ENST00000413242.2_Missense_Mutation_p.R337Q|ZNF286A_ENST00000593105.1_Missense_Mutation_p.R327Q|ZNF286A_ENST00000585171.1_Intron			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													15	213					0	0	1	0	0	A	15620048	G	A	15620048	3	1	22	1	0	0	0	0	1	0	0	0	17881	1058	37	1	1028	1	ZNF286A	17	15620048	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87909	15620048	65575162	16407	18553											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395857.3_Missense_Mutation_p.T931M|NCOR1_ENST00000395851.1_Missense_Mutation_p.T2244M	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													15	550					0	0	1	0	0	A	15938174	G	A	15938174	3	1	22	1	0	0	0	0	1	0	0	0	10282	1145	40	1	290	1	NCOR1	17	15938174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	318126	15938174	65257036	16408	18554											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	173					6.08268e-21	6.83416e-21	1	1	0	T	15989754	G	T	15989754	3	4	22	1	0	0	0	0	1	0	0	0	10282	1000	35	2	4399	2	NCOR1	17	15989754	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51580	15989754	65205456	16409	18555	122	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	176					0	0	1	0	0	G	15989758	T	G	15989758	5	3	22	1	0	0	0	0	0	0	1	0	10282	1623	56	3	4403	3	NCOR1	17	15989758	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4	15989758	65205452	16410	18556	122	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395851.1_Missense_Mutation_p.R581C|NCOR1_ENST00000395848.1_Missense_Mutation_p.R472C|NCOR1_ENST00000583226.1_5'UTR	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													138	626					0	0	1	0	0	A	16024477	G	A	16024477	3	1	22	1	0	0	0	0	1	0	0	0	10282	1116	39	1	5705	1	NCOR1	17	16024477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34719	16024477	65170733	16411	18557											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	251					0	0	1	0	0	C	16049816	T	C	16049816	3	2	22	1	0	0	0	0	1	0	0	0	10282	1551	54	3	6514	3	NCOR1	17	16049816	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25339	16049816	65145394	16412	18558											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	158					1.62565e-12	1.74646e-12	1	1	0	A	16075231	C	A	16075231	3	1	22	1	0	0	0	0	1	0	0	0	10282	796	28	2	7173	2	NCOR1	17	16075231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25415	16075231	65119979	16413	18559											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16120588G>A	ENST00000225609.5	+	1	65	c.48G>A	c.(46-48)tgG>tgA	p.W16*	PIGL_ENST00000395844.3_Nonsense_Mutation_p.W16*|PIGL_ENST00000463810.1_3'UTR|PIGL_ENST00000581006.1_Nonsense_Mutation_p.W16*|PIGL_ENST00000498772.2_Nonsense_Mutation_p.W16*	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	16					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													50	261					0	0	1	0	0	A	16120588	G	A	16120588	4	1	22	1	0	0	0	0	0	1	0	0	11939	1241	43	2	50	2	PIGL	17	16120588	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45357	16120588	65074622	16414	18560											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16120611C>T	ENST00000225609.5	+	1	88	c.71C>T	c.(70-72)tCc>tTc	p.S24F	PIGL_ENST00000395844.3_Missense_Mutation_p.S24F|PIGL_ENST00000463810.1_3'UTR|PIGL_ENST00000581006.1_Missense_Mutation_p.S24F|PIGL_ENST00000498772.2_Missense_Mutation_p.S24F	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	24					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													69	255					0	0	1	0	0	T	16120611	C	T	16120611	3	4	22	1	0	0	0	0	1	0	0	0	11939	855	30	2	73	2	PIGL	17	16120611	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23	16120611	65074599	16415	18561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16216893C>T	ENST00000225609.5	+	4	476	c.459C>T	c.(457-459)ggC>ggT	p.G153G	PIGL_ENST00000395844.3_Silent_p.G153G|PIGL_ENST00000581006.1_Intron|PIGL_ENST00000498772.2_Silent_p.G153G	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	153					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													73	476					0	0	1	0	0	T	16216893	C	T	16216893	2	4	22	1	0	0	0	0	0	0	0	1	11939	726	26	2		2	PIGL	17	16216893	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96282	16216893	64978317	16416	18562											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	156					0	0	1	0	0	T	16321163	C	T	16321163	4	4	22	1	0	0	0	0	0	1	0	0	16657	644	23	1	183	1	TRPV2	17	16321163	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104270	16321163	64874047	16417	18563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	302					0	0	1	0	0	T	16330045	C	T	16330045	4	4	22	1	0	0	0	0	0	1	0	0	16657	644	23	1	1127	1	TRPV2	17	16330045	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8882	16330045	64865165	16418	18564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	268					0	0	1	0	0	T	16330160	C	T	16330160	3	4	22	1	0	0	0	0	1	0	0	0	16657	797	28	2	1242	2	TRPV2	17	16330160	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115	16330160	64865050	16419	18565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	243					0	0	1	0	0	A	16335315	G	A	16335315	3	1	22	1	0	0	0	0	1	0	0	0	16657	1059	37	1	1732	1	TRPV2	17	16335315	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5155	16335315	64859895	16420	18566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	414					0	0	1	0	0	A	16336966	G	A	16336966	3	1	22	1	0	0	0	0	1	0	0	0	16657	1145	40	1	2114	1	TRPV2	17	16336966	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1651	16336966	64858244	16421	18567											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	465					0	0	1	0	0	T	16340106	C	T	16340106	3	4	22	1	0	0	0	0	1	0	0	0	16657	565	20	2	2252	2	TRPV2	17	16340106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3140	16340106	64855104	16422	18568											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	241					0	0	1	0	0	C	16455434	T	C	16455434	2	2	22	1	0	0	0	0	0	0	0	1	17882	1722	60	3		3	ZNF287	17	16455434	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	115328	16455434	64739776	16423	18569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													160	647					0	0	1	0	0	A	16456289	G	A	16456289	2	1	22	1	0	0	0	0	0	0	0	1	17882	1219	43	2		2	ZNF287	17	16456289	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	855	16456289	64738921	16424	18570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	176					0	0	1	0	0	A	16537218	G	A	16537218	3	1	22	1	0	0	0	0	1	0	0	0	18105	1261	44	2	2271	2	ZNF624	17	16537218	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80929	16537218	64657992	16425	18571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436374.1_3'UTR|CCDC144A_ENST00000360524.8_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000340621.5_Nonsense_Mutation_p.E7*|RP11-219A15.1_ENST00000448331.3_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000456009.1_Nonsense_Mutation_p.E7*			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	7																	CTGGGGTGGAGAAAAGCGGGG	0.647													20	80					1.10513e-12	1.18868e-12	1	1	0	T	16593733	G	T	16593733	4	4	22	1	0	0	0	0	0	1	0	0	2795	943	33	2	21	2	CCDC144A	17	16593733	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56515	16593733	64601477	16426	18572											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436374.1_3'UTR|CCDC144A_ENST00000360524.8_Missense_Mutation_p.V107M|CCDC144A_ENST00000340621.5_Missense_Mutation_p.V107M|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.V107M|CCDC144A_ENST00000399273.1_Missense_Mutation_p.V107M|CCDC144A_ENST00000456009.1_Missense_Mutation_p.V107M			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	107																	AGACACTGGCGTGGACAAGAG	0.652													210	1002					0	0	1	0	0	A	16594033	G	A	16594033	3	1	22	1	0	0	0	0	1	0	0	0	2795	1145	40	1	321	1	CCDC144A	17	16594033	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	300	16594033	64601177	16427	18573											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360524.8_Missense_Mutation_p.G343D|CCDC144A_ENST00000340621.5_Missense_Mutation_p.G342D|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.G343D|CCDC144A_ENST00000399273.1_Missense_Mutation_p.G343D|CCDC144A_ENST00000456009.1_Intron			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	343																	AACATACCTGGTTGTGAGGAA	0.383													63	309					0	0	1	0	0	A	16612399	G	A	16612399	3	1	22	1	0	0	0	0	1	0	0	0	2795	1261	44	2	1046	2	CCDC144A	17	16612399	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18366	16612399	64582811	16428	18574											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000583789.1_Missense_Mutation_p.Q150H|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.Q196H|TNFRSF13B_ENST00000579315.1_Intron			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				100	493					1.10825e-40	1.34457e-40	1	1	0	A	16843683	C	A	16843683	3	1	22	1	0	0	0	0	1	0	0	0	16347	796	28	2	301	2	TNFRSF13B	17	16843683	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	231284	16843683	64351527	16429	18575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				147	516					0	0	1	0	0	T	17122372	C	T	17122372	2	4	22	1	0	0	0	0	0	0	0	1	5954	842	30	2		2	FLCN	17	17122372	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	278689	17122372	64072838	16430	18576											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Silent_p.T270T	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				55	222					0	0	1	0	0	A	17124912	G	A	17124912	2	1	22	1	0	0	0	0	0	0	0	1	5954	1103	39	1		1	FLCN	17	17124912	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2540	17124912	64070298	16431	18577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.R17H|FLCN_ENST00000389169.5_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				46	193					0	0	1	0	0	T	17131402	C	T	17131402	3	4	22	1	0	0	0	0	1	0	0	0	5954	768	27	1	1891	1	FLCN	17	17131402	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6490	17131402	64063808	16432	18578											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	241					0	0	1	0	0	A	17250251	G	A	17250251	3	1	22	1	0	0	0	0	1	0	0	0	10742	1116	39	1	695	1	NT5M	17	17250251	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118849	17250251	63944959	16433	18579											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	94					0	0	1	0	0	A	17380439	G	A	17380439	2	1	22	1	0	0	0	0	0	0	0	1	9504	962	34	2		2	MED9	17	17380439	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	130188	17380439	63814771	16434	18580											
MED9	55090	broad.mit.edu	37	chr17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-													gcatccacctgagccccgaaCagcagcagcagcagctgcag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)del	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117					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						GAGCCCCGAACAGCAGCAGCAGC	0.581													8	702	---	---	---	---						-	17394707	CAG	-	17394705	7	5	22	1	0	1	0	1	0	0	0	0	9504	479	17	0	343	0	MED9	17	17394705	In_Frame_Del	DEL	CAG	TCGA-IB-7651-01A-11D-2154-08	14266	17394705	63800505	16435	18581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	422					0	0	1	0	0	T	17399311	C	T	17399311	3	4	22	1	0	0	0	0	1	0	0	0	13118	768	27	1	668	1	RASD1	17	17399311	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4606	17399311	63795899	16436	18582											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	131					0	0	1	0	0	T	17696546	C	T	17696546	3	4	22	1	0	0	0	0	1	0	0	0	13059	652	23	1	286	1	RAI1	17	17696546	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	297235	17696546	63498664	16437	18583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	177					0	0	1	0	0	A	17699003	G	A	17699003	4	1	22	1	0	0	0	0	0	1	0	0	13059	1357	47	2	2743	2	RAI1	17	17699003	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2457	17699003	63496207	16438	18584											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													162	622					0	0	1	0	0	A	17700276	G	A	17700276	2	1	22	1	0	0	0	0	0	0	0	1	13059	1074	38	1		1	RAI1	17	17700276	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1273	17700276	63494934	16439	18585											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	506					0	0	1	0	0	A	17700424	G	A	17700424	3	1	22	1	0	0	0	0	1	0	0	0	13059	1116	39	1	4164	1	RAI1	17	17700424	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148	17700424	63494786	16440	18586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													138	724					0	0	1	0	0	T	17701060	C	T	17701060	3	4	22	1	0	0	0	0	1	0	0	0	13059	759	27	1	4800	1	RAI1	17	17701060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	636	17701060	63494150	16441	18587											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000338854.5_Intron|SREBF1_ENST00000261646.5_Intron|SREBF1_ENST00000395757.1_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													5	36					0.000602214	0.000609647	1	1	0	A	17720902	C	A	17720902	4	1	22	1	0	0	0	0	0	1	0	0	15197	928	32	2		2	SREBF1	17	17720902	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19842	17720902	63474308	16442	18588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000583732.1_5'UTR|SREBF1_ENST00000338854.5_Silent_p.R334R|SREBF1_ENST00000261646.5_Silent_p.R334R|SREBF1_ENST00000435530.2_Silent_p.R334R|SREBF1_ENST00000395757.1_Silent_p.R80R	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													11	442					0	0	1	0	0	A	17722393	G	A	17722393	2	1	22	1	0	0	0	0	0	0	0	1	15197	958	34	2		2	SREBF1	17	17722393	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1491	17722393	63472817	16443	18589											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	206					0	0	1	0	0	G	17723477	T	G	17723477	2	3	22	1	0	0	0	0	0	0	0	1	15197	1567	55	3		3	SREBF1	17	17723477	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1084	17723477	63471733	16444	18590											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540946.1_Silent_p.V312V|TOM1L2_ENST00000318094.10_Silent_p.V365V|TOM1L2_ENST00000535933.1_Silent_p.V357V|TOM1L2_ENST00000542206.1_Silent_p.V262V|TOM1L2_ENST00000379504.3_Silent_p.V410V|TOM1L2_ENST00000478943.1_Silent_p.V143V|TOM1L2_ENST00000395739.4_Silent_p.V365V	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													20	216					0	0	1	0	0	A	17764838	G	A	17764838	2	1	22	1	0	0	0	0	0	0	0	1	16413	1045	37	1		1	TOM1L2	17	17764838	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41361	17764838	63430372	16445	18591											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540946.1_Missense_Mutation_p.E268V|TOM1L2_ENST00000318094.10_Missense_Mutation_p.E321V|TOM1L2_ENST00000535933.1_Missense_Mutation_p.E313V|TOM1L2_ENST00000542206.1_Missense_Mutation_p.E218V|TOM1L2_ENST00000379504.3_Missense_Mutation_p.E366V|TOM1L2_ENST00000478943.1_Missense_Mutation_p.E99V|TOM1L2_ENST00000395739.4_Missense_Mutation_p.E321V	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													13	506					0	0	1	0	0	A	17766150	T	A	17766150	3	1	22	1	0	0	0	0	1	0	0	0	16413	1551	54	5	446	5	TOM1L2	17	17766150	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1312	17766150	63429060	16446	18592											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000584166.1_Missense_Mutation_p.E374K|LRRC48_ENST00000411504.2_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													12	63					0	0	1	0	0	A	17907797	G	A	17907797	3	1	22	1	0	0	0	0	1	0	0	0	9050	1175	41	2	1150	2	LRRC48	17	17907797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141647	17907797	63287413	16447	18593											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	374					0	0	1	0	0	A	18002358	G	A	18002358	3	1	22	1	0	0	0	0	1	0	0	0	4788	1174	41	2	357	2	DRG2	17	18002358	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94561	18002358	63192852	16448	18594											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	459					0	0	1	0	0	C	18007126	A	C	18007126	3	2	22	1	0	0	0	0	1	0	0	0	4788	72	3	3	856	3	DRG2	17	18007126	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4768	18007126	63188084	16449	18595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	141					1.45844e-13	1.57644e-13	1	1	0	A	18022454	C	A	18022454	3	1	22	1	0	0	0	0	1	0	0	0	10111	652	23	4	342	4	MYO15A	17	18022454	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15328	18022454	63172756	16450	18596											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	115					0	0	1	0	0	T	18024987	C	T	18024987	3	4	22	1	0	0	0	0	1	0	0	0	10111	681	24	2	2875	2	MYO15A	17	18024987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2533	18024987	63170223	16451	18597											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													160	531					0	0	1	0	0	G	18025224	A	G	18025224	3	3	22	1	0	0	0	0	1	0	0	0	10111	333	12	3	3112	3	MYO15A	17	18025224	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	237	18025224	63169986	16452	18598											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	776					1.26781e-57	1.58805e-57	1	1	0	T	18025324	G	T	18025324	3	4	22	1	0	0	0	0	1	0	0	0	10111	933	33	2	3212	2	MYO15A	17	18025324	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100	18025324	63169886	16453	18599											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	310					4.45325e-31	5.23636e-31	1	1	0	T	18025661	G	T	18025661	3	4	22	1	0	0	0	0	1	0	0	0	10111	971	34	2	3549	2	MYO15A	17	18025661	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	337	18025661	63169549	16454	18600											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	241					0	0	1	0	0	C	18029702	A	C	18029702	3	2	22	1	0	0	0	0	1	0	0	0	10111	11	1	3	3812	3	MYO15A	17	18029702	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4041	18029702	63165508	16455	18601											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	756					1.61788e-16	1.7777e-16	1	1	0	T	18030104	G	T	18030104	5	4	22	1	0	0	0	0	0	0	1	0	10111	1014	35	2	3884	2	MYO15A	17	18030104	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	402	18030104	63165106	16456	18602											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	240					0	0	1	0	0	T	18041528	C	T	18041528	3	4	22	1	0	0	0	0	1	0	0	0	10111	759	27	1	5033	1	MYO15A	17	18041528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11424	18041528	63153682	16457	18603											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	36	159					1.26612e-14	1.37737e-14	1	1	0	T	18044339	G	T	18044339	3	4	22	1	0	0	0	0	1	0	0	0	10111	1000	35	2	5491	2	MYO15A	17	18044339	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2811	18044339	63150871	16458	18604											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	234					0	0	1	0	0	G	18051507	A	G	18051507	3	3	22	1	0	0	0	0	1	0	0	0	10111	275	10	3	6788	3	MYO15A	17	18051507	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7168	18051507	63143703	16459	18605											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	57					0	0	1	0	0	A	18054176	G	A	18054176	2	1	22	1	0	0	0	0	0	0	0	1	10111	1103	39	1		1	MYO15A	17	18054176	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2669	18054176	63141034	16460	18606											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	1059					0	0	1	0	0	A	18054484	G	A	18054484	3	1	22	1	0	0	0	0	1	0	0	0	10111	1145	40	1	7680	1	MYO15A	17	18054484	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	308	18054484	63140726	16461	18607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	206					6.5261e-18	7.22248e-18	1	1	0	T	18062626	G	T	18062626	3	4	22	1	0	0	0	0	1	0	0	0	10111	971	34	2	9400	2	MYO15A	17	18062626	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8142	18062626	63132584	16462	18608											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000418233.3_Missense_Mutation_p.S460G|MYO15A_ENST00000451725.2_Missense_Mutation_p.S88G	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													12	200					0	0	1	0	0	G	18065967	A	G	18065967	3	3	22	1	0	0	0	0	1	0	0	0	10111	188	7	3	9808	3	MYO15A	17	18065967	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3341	18065967	63129243	16463	18609											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000418233.3_Missense_Mutation_p.R558W|MYO15A_ENST00000451725.2_Intron	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													100	521					0	0	1	0	0	T	18069767	C	T	18069767	3	4	22	1	0	0	0	0	1	0	0	0	10111	643	23	1	10114	1	MYO15A	17	18069767	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3800	18069767	63125443	16464	18610											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18075471G>A	ENST00000205890.5	+	64	10555	c.10216_splice	c.e64-1	p.G3406_splice	MYO15A_ENST00000418233.3_Splice_Site_p.G670_splice|MYO15A_ENST00000451725.2_Splice_Site_p.A200_splice	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													73	310					0	0	1	0	0	A	18075471	G	A	18075471	5	1	22	1	0	0	0	0	0	0	1	0	10111	1217	42	2	10463	2	MYO15A	17	18075471	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5704	18075471	63119739	16465	18611											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													199	986					0	0	1	0	0	A	18110257	G	A	18110257	3	1	22	1	0	0	0	0	1	0	0	0	526	1087	38	1	990	1	ALKBH5	17	18110257	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34786	18110257	63084953	16466	18612											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_004131.3	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													118	452					0	0	1	0	0	A	18133300	G	A	18133300	3	1	22	1	0	0	0	0	1	0	0	0	8874	1058	37	1	133	1	LLGL1	17	18133300	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23043	18133300	63061910	16467	18613											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_004131.3	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													29	158					0	0	1	0	0	T	18135840	C	T	18135840	2	4	22	1	0	0	0	0	0	0	0	1	8874	680	24	2		2	LLGL1	17	18135840	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2540	18135840	63059370	16468	18614											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_004131.3	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													21	147					0	0	1	0	0	C	18138215	T	C	18138215	3	2	22	1	0	0	0	0	1	0	0	0	8874	1638	57	3	1002	3	LLGL1	17	18138215	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2375	18138215	63056995	16469	18615											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_004131.3	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													20	206					0	0	1	0	0	A	18141066	G	A	18141066	3	1	22	1	0	0	0	0	1	0	0	0	8874	1087	38	1	1937	1	LLGL1	17	18141066	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2851	18141066	63054144	16470	18616											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_004131.3	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													44	173					0	0	1	0	0	A	18144854	G	A	18144854	2	1	22	1	0	0	0	0	0	0	0	1	8874	1132	40	1		1	LLGL1	17	18144854	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3788	18144854	63050356	16471	18617											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_004131.3	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													97	467					4.7146e-34	5.60093e-34	1	1	0	T	18145222	G	T	18145222	4	4	22	1	0	0	0	0	0	1	0	0	8874	943	33	2	2865	2	LLGL1	17	18145222	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	368	18145222	63049988	16472	18618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000579294.1_Missense_Mutation_p.G1032D|FLII_ENST00000379450.4_Missense_Mutation_p.G957D|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.G988D	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													180	794					0	0	1	0	0	T	18149700	C	T	18149700	3	4	22	1	0	0	0	0	1	0	0	0	5958	739	26	2	709	2	FLII	17	18149700	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4478	18149700	63045510	16473	18619											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000579294.1_Missense_Mutation_p.D921G|FLII_ENST00000379450.4_Missense_Mutation_p.D846G|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.D877G	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													44	385					0	0	1	0	0	C	18150248	T	C	18150248	3	2	22	1	0	0	0	0	1	0	0	0	5958	1667	58	3	1050	3	FLII	17	18150248	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	548	18150248	63044962	16474	18620											
SMCR7	0	broad.mit.edu	37	chr17	18166031	18166031	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccctggctctcttacaggcaGaccatggcagagttctccca	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18166031G>T	ENST00000395706.2	+	2	56	c.30G>T	c.(28-30)caG>caT	p.Q10H	SMCR7_ENST00000395703.4_5'UTR|SMCR7_ENST00000395704.4_5'UTR|SMCR7_ENST00000578174.1_5'UTR|SMCR7_ENST00000578621.1_5'UTR|SMCR7_ENST00000577216.1_Intron|SMCR7_ENST00000323019.4_5'UTR	NM_148886.1	NP_683684.2	Q96C03	SMCR7_HUMAN		0						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					CTTACAGGCAGACCATGGCAG	0.642													37	134					8.73648e-17	9.61379e-17	1	1	0	T	18166031	G	T	18166031	3	4	22	1	0	0	0	0	1	0	0	0	14844	933	33	2	36	2	SMCR7	17	18166031	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15783	18166031	63029179	16475	18621											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	498					0	0	1	0	0	C	18181033	T	C	18181033	3	2	22	1	0	0	0	0	1	0	0	0	16428	1580	55	3	230	3	TOP3A	17	18181033	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15002	18181033	63014177	16476	18622											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	255					0	0	1	0	0	A	18194223	G	A	18194223	3	1	22	1	0	0	0	0	1	0	0	0	16428	1203	42	2	1637	2	TOP3A	17	18194223	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13190	18194223	63000987	16477	18623											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	275					0	0	1	0	0	A	18194249	G	A	18194249	2	1	22	1	0	0	0	0	0	0	0	1	16428	1048	37	1		1	TOP3A	17	18194249	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26	18194249	63000961	16478	18624											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	213					0	0	1	0	0	T	18198077	C	T	18198077	3	4	22	1	0	0	0	0	1	0	0	0	16428	884	31	1	2032	1	TOP3A	17	18198077	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3828	18198077	62997133	16479	18625											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	207					0	0	1	0	0	A	18219764	G	A	18219764	3	1	22	1	0	0	0	0	1	0	0	0	14846	1058	37	1	663	1	SMCR8	17	18219764	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21687	18219764	62975446	16480	18626											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	188					0	0	1	0	0	T	18219847	C	T	18219847	2	4	22	1	0	0	0	0	0	0	0	1	14846	506	18	2		2	SMCR8	17	18219847	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83	18219847	62975363	16481	18627											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	248					0	0	1	0	0	A	18221147	G	A	18221147	3	1	22	1	0	0	0	0	1	0	0	0	14846	971	34	2	2046	2	SMCR8	17	18221147	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1300	18221147	62974063	16482	18628											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	159					7.89702e-26	9.07718e-26	1	1	0	A	18232655	C	A	18232655	3	1	22	1	0	0	0	0	1	0	0	0	14340	797	28	2	240	2	SHMT1	17	18232655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11508	18232655	62962555	16483	18629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395902.3_Silent_p.C284C|TRIM16L_ENST00000395671.4_Silent_p.C230C|TRIM16L_ENST00000571708.1_Silent_p.C230C|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000572555.1_Silent_p.C230C|TRIM16L_ENST00000395672.2_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													10	408					0	0	1	0	0	T	18638416	C	T	18638416	2	4	22	1	0	0	0	0	0	0	0	1	16553	718	25	2		2	TRIM16L	17	18638416	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	405761	18638416	62556794	16484	18630											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395902.3_Missense_Mutation_p.L333F|TRIM16L_ENST00000395671.4_Missense_Mutation_p.L279F|TRIM16L_ENST00000571708.1_Missense_Mutation_p.L279F|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000572555.1_Missense_Mutation_p.L279F|TRIM16L_ENST00000395672.2_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													13	442					0	0	1	0	0	T	18638561	C	T	18638561	3	4	22	1	0	0	0	0	1	0	0	0	16553	797	28	2	849	2	TRIM16L	17	18638561	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145	18638561	62556649	16485	18631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395667.1_Missense_Mutation_p.Q81P|FBXW10_ENST00000395665.4_Missense_Mutation_p.Q81P|FBXW10_ENST00000301938.4_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													59	573					0	0	1	0	0	C	18647799	A	C	18647799	3	2	22	1	0	0	0	0	1	0	0	0	5796	188	7	3	244	3	FBXW10	17	18647799	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9238	18647799	62547411	16486	18632											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395667.1_Intron|FBXW10_ENST00000395665.4_Intron|FBXW10_ENST00000301938.4_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													21	353					0	0	1	0	0	T	18653271	C	T	18653271	3	4	22	1	0	0	0	0	1	0	0	0	5796	696	24	2		2	FBXW10	17	18653271	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5472	18653271	62541939	16487	18633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Silent_p.F620F|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Silent_p.F620F|SLC5A10_ENST00000395643.2_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													57	267					0	0	1	0	0	A	18881119	G	A	18881119	2	1	22	1	0	0	0	0	0	0	0	1	5671	1049	37	1		1	FAM83G	17	18881119	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227848	18881119	62314091	16488	18634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.G578V|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.G578V|SLC5A10_ENST00000395643.2_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													110	502					7.98965e-42	9.7163e-42	1	1	0	A	18881246	C	A	18881246	3	1	22	1	0	0	0	0	1	0	0	0	5671	623	22	2	746	2	FAM83G	17	18881246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127	18881246	62313964	16489	18635											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.D433N|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.D433N|SLC5A10_ENST00000395643.2_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													11	52					0	0	1	0	0	T	18881682	C	T	18881682	3	4	22	1	0	0	0	0	1	0	0	0	5671	884	31	1	1182	1	FAM83G	17	18881682	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	436	18881682	62313528	16490	18636											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Silent_p.S364S|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Silent_p.S364S|SLC5A10_ENST00000395643.2_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													69	296					5.45122e-27	6.30096e-27	1	1	0	T	18881887	G	T	18881887	2	4	22	1	0	0	0	0	0	0	0	1	5671	987	35	2		2	FAM83G	17	18881887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205	18881887	62313323	16491	18637											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.D358N|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.D358N|SLC5A10_ENST00000395643.2_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													97	402					0	0	1	0	0	T	18881907	C	T	18881907	3	4	22	1	0	0	0	0	1	0	0	0	5671	884	31	1	1407	1	FAM83G	17	18881907	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	18881907	62313303	16492	18638											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395642.1_Missense_Mutation_p.A308V|SLC5A10_ENST00000395645.3_Missense_Mutation_p.A375V|SLC5A10_ENST00000395647.2_Missense_Mutation_p.A391V|SLC5A10_ENST00000395643.2_Missense_Mutation_p.A348V|SLC5A10_ENST00000417251.2_Missense_Mutation_p.A339V			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													59	263					0	0	1	0	0	T	18918395	C	T	18918395	3	4	22	1	0	0	0	0	1	0	0	0	14717	768	27	1	1214	1	SLC5A10	17	18918395	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36488	18918395	62276815	16493	18639											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|GRAP_ENST00000284154.5_Silent_p.V215V|SLC5A10_ENST00000317977.6_3'UTR			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													16	73					0	0	1	0	0	T	18925281	C	T	18925281	3	4	22	1	0	0	0	0	1	0	0	0	6794	697	25	2	12	2	GRAP	17	18925281	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6886	18925281	62269929	16494	18640											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395604.3_Missense_Mutation_p.A82V|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.A82V	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													37	397					0	0	1	0	0	T	19283107	C	T	19283107	3	4	22	1	0	0	0	0	1	0	0	0	9332	739	26	2	251	2	MAPK7	17	19283107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	357826	19283107	61912103	16495	18641											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395604.3_Silent_p.F90F|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000395602.4_Silent_p.F90F	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													78	377					0	0	1	0	0	T	19283132	C	T	19283132	2	4	22	1	0	0	0	0	0	0	0	1	9332	883	31	1		1	MAPK7	17	19283132	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25	19283132	61912078	16496	18642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395604.3_Missense_Mutation_p.R488M|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Missense_Mutation_p.R349M|MAPK7_ENST00000395602.4_Missense_Mutation_p.R488M	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													24	125					1.55469e-16	1.70887e-16	1	1	0	T	19284985	G	T	19284985	3	4	22	1	0	0	0	0	1	0	0	0	9332	1000	35	2	1473	2	MAPK7	17	19284985	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1853	19284985	61910225	16497	18643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395604.3_Missense_Mutation_p.G744S|MAPK7_ENST00000571657.1_3'UTR|MAPK7_ENST00000299612.7_Missense_Mutation_p.G605S|MAPK7_ENST00000395602.4_Missense_Mutation_p.G744S	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													91	404					0	0	1	0	0	A	19286192	G	A	19286192	3	1	22	1	0	0	0	0	1	0	0	0	9332	1348	47	2	2248	2	MAPK7	17	19286192	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1207	19286192	61909018	16498	18644											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395604.3_Missense_Mutation_p.L813I|MAPK7_ENST00000571657.1_3'UTR|MAPK7_ENST00000299612.7_Missense_Mutation_p.L674I|MAPK7_ENST00000395602.4_Missense_Mutation_p.L813I	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													45	233					3.21987e-24	3.67739e-24	1	1	0	A	19286530	C	A	19286530	3	1	22	1	0	0	0	0	1	0	0	0	9332	681	24	2	2459	2	MAPK7	17	19286530	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	338	19286530	61908680	16499	18645											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000497081.2_Silent_p.S250S|MFAP4_ENST00000299610.4_Silent_p.S225S	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													34	134					0	0	1	0	0	A	19287868	G	A	19287868	2	1	22	1	0	0	0	0	0	0	0	1	9567	1219	43	2		2	MFAP4	17	19287868	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1338	19287868	61907342	16500	18646											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000497081.2_Silent_p.A191A|MFAP4_ENST00000299610.4_Silent_p.A166A	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													102	470					0	0	1	0	0	C	19288434	T	C	19288434	2	2	22	1	0	0	0	0	0	0	0	1	9567	1567	55	3		3	MFAP4	17	19288434	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	566	19288434	61906776	16501	18647											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000497081.2_Missense_Mutation_p.G78D|MFAP4_ENST00000299610.4_Missense_Mutation_p.G53D	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													32	120					0	0	1	0	0	T	19289705	C	T	19289705	3	4	22	1	0	0	0	0	1	0	0	0	9567	739	26	2	625	2	MFAP4	17	19289705	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1271	19289705	61905505	16502	18648											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	282					0	0	1	0	0	A	19318461	G	A	19318461	3	1	22	1	0	0	0	0	1	0	0	0	13478	1087	38	1	989	1	RNF112	17	19318461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28756	19318461	61876749	16503	18649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000581518.1_3'UTR|ALDH3A2_ENST00000579855.1_3'UTR|ALDH3A2_ENST00000395575.2_3'UTR|ALDH3A2_ENST00000574597.1_3'UTR|ALDH3A2_ENST00000339618.4_3'UTR|ALDH3A2_ENST00000176643.6_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													128	539					3.73674e-43	4.55926e-43	1	1	0	A	19578929	C	A	19578929	3	1	22	1	0	0	0	0	1	0	0	0	495	870	30	2		2	ALDH3A2	17	19578929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	260468	19578929	61616281	16504	18650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	403					0	0	1	0	0	A	19618448	G	A	19618448	3	1	22	1	0	0	0	0	1	0	0	0	14703	1059	37	1	1666	1	SLC47A2	17	19618448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39519	19618448	61576762	16505	18651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395555.3_Intron|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.V324M|ALDH3A1_ENST00000225740.6_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													26	134					0	0	1	0	0	T	19642967	C	T	19642967	3	4	22	1	0	0	0	0	1	0	0	0	494	536	19	1	407	1	ALDH3A1	17	19642967	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24519	19642967	61552243	16506	18652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	246					0	0	1	0	0	A	19835269	G	A	19835269	3	1	22	1	0	0	0	0	1	0	0	0	443	1174	41	2	522	2	AKAP10	17	19835269	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192302	19835269	61359941	16507	18653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395536.3_Missense_Mutation_p.V50A|AKAP10_ENST00000572155.1_5'UTR	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													75	446					0	0	1	0	0	G	19866323	A	G	19866323	3	3	22	1	0	0	0	0	1	0	0	0	443	391	14	3	1891	3	AKAP10	17	19866323	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31054	19866323	61328887	16508	18654											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	345					6.09681e-45	7.46776e-45	1	1	0	T	20354929	G	T	20354929	3	4	22	1	0	0	0	0	1	0	0	0	8789	1194	42	2	289	2	LGALS9B	17	20354929	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	488606	20354929	60840281	16509	18655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			16	332					0	0	1	0	0	A	21318812	G	A	21318812	3	1	22	1	0	0	0	0	1	0	0	0	8090	1319	46	2	160	2	KCNJ12	17	21318812	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	963883	21318812	59876398	16510	18656											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			29	305					4.40665e-25	5.05158e-25	1	1	0	T	21319300	G	T	21319300	3	4	22	1	0	0	0	0	1	0	0	0	8090	1232	43	2	648	2	KCNJ12	17	21319300	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	488	21319300	59875910	16511	18657											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			34	363					0	0	1	0	0	A	21319408	G	A	21319408	3	1	22	1	0	0	0	0	1	0	0	0	8090	1058	37	1	756	1	KCNJ12	17	21319408	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108	21319408	59875802	16512	18658											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000319524.6_Missense_Mutation_p.S231P|KSR1_ENST00000509603.2_Missense_Mutation_p.S231P|KSR1_ENST00000268763.6_Missense_Mutation_p.S94P	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													35	139					0	0	1	0	0	C	25909842	T	C	25909842	3	2	22	1	0	0	0	0	1	0	0	0	8620	1667	58	3	286	3	KSR1	17	25909842	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4590434	25909842	55285368	16513	18659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000319524.6_Silent_p.C376C|KSR1_ENST00000509603.2_Silent_p.C376C|KSR1_ENST00000268763.6_Silent_p.C239C|KSR1_ENST00000581975.1_3'UTR	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													17	70					0	0	1	0	0	T	25917918	C	T	25917918	2	4	22	1	0	0	0	0	0	0	0	1	8620	718	25	2		2	KSR1	17	25917918	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8076	25917918	55277292	16514	18660											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000319524.6_Silent_p.E667E|KSR1_ENST00000509603.2_Silent_p.E645E|KSR1_ENST00000268763.6_Silent_p.E530E	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													26	118					0	0	1	0	0	A	25932780	G	A	25932780	2	1	22	1	0	0	0	0	0	0	0	1	8620	933	33	2		2	KSR1	17	25932780	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14862	25932780	55262430	16515	18661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000319524.6_Missense_Mutation_p.D733Y|KSR1_ENST00000509603.2_Missense_Mutation_p.D711Y|KSR1_ENST00000268763.6_Missense_Mutation_p.D596Y	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													46	234					1.8453e-21	2.07902e-21	1	1	0	T	25936261	G	T	25936261	3	4	22	1	0	0	0	0	1	0	0	0	8620	942	33	2	1840	2	KSR1	17	25936261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3481	25936261	55258949	16516	18662											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000319524.6_Silent_p.C777C|KSR1_ENST00000509603.2_Silent_p.C755C|KSR1_ENST00000268763.6_Silent_p.C640C|KSR1_ENST00000582410.1_5'UTR	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)	93	501					0	0	1	0	0	T	25937132	C	T	25937132	2	4	22	1	0	0	0	0	0	0	0	1	8620	805	28	2		2	KSR1	17	25937132	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	871	25937132	55258078	16517	18663											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000310394.5_Intron|LGALS9_ENST00000302228.5_Intron|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000413914.2_Missense_Mutation_p.R120C	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													26	175					0	0	1	0	0	T	25970635	C	T	25970635	3	4	22	1	0	0	0	0	1	0	0	0	8788	768	27	1	547	1	LGALS9	17	25970635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33503	25970635	55224575	16518	18664											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	127					0	0	1	0	0	A	26091072	G	A	26091072	3	1	22	1	0	0	0	0	1	0	0	0	10590	971	34	2	962	2	NOS2	17	26091072	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120437	26091072	55104138	16519	18665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	200					0	0	1	0	0	G	26101354	A	G	26101354	3	3	22	1	0	0	0	0	1	0	0	0	10590	275	10	3	2120	3	NOS2	17	26101354	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10282	26101354	55093856	16520	18666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	342					0	0	1	0	0	T	26110096	C	T	26110096	2	4	22	1	0	0	0	0	0	0	0	1	10590	639	23	1		1	NOS2	17	26110096	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8742	26110096	55085114	16521	18667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													140	662					0	0	1	0	0	A	26115921	G	A	26115921	3	1	22	1	0	0	0	0	1	0	0	0	10590	1232	43	2	3325	2	NOS2	17	26115921	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5825	26115921	55079289	16522	18668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	505					0	0	1	0	0	G	26495604	A	G	26495604	3	3	22	1	0	0	0	0	1	0	0	0	10513	275	10	3	990	3	NLK	17	26495604	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	379683	26495604	54699606	16523	18669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	185					0	0	1	0	0	T	26653722	C	T	26653722	3	4	22	1	0	0	0	0	1	0	0	0	16284	913	32	2	444	2	TMEM97	17	26653722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158118	26653722	54541488	16524	18670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|SEBOX_ENST00000536498.1_5'UTR	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													90	343					5.42582e-32	6.39997e-32	1	1	0	A	26695591	C	A	26695591	2	1	22	1	0	0	0	0	0	0	0	1	17297	610	22	2		2	VTN	17	26695591	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41869	26695591	54499619	16525	18671											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|SEBOX_ENST00000536498.1_5'UTR	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													19	471					0	0	1	0	0	G	26695907	A	G	26695907	3	3	22	1	0	0	0	0	1	0	0	0	17297	275	10	3	640	3	VTN	17	26695907	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	316	26695907	54499303	16526	18672											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|SEBOX_ENST00000536498.1_5'UTR	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													15	465					0	0	1	0	0	T	26696370	C	T	26696370	2	4	22	1	0	0	0	0	0	0	0	1	17297	680	24	2		2	VTN	17	26696370	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	463	26696370	54498840	16527	18673											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000465444.1_5'UTR|PIGS_ENST00000543734.1_Missense_Mutation_p.E149D|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													9	177					1.12685e-05	1.15515e-05	1	1	0	A	26888486	C	A	26888486	3	1	22	1	0	0	0	0	1	0	0	0	11946	680	24	2	1065	2	PIGS	17	26888486	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192116	26888486	54306724	16528	18674											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													157	681					0	0	1	0	0	A	26890850	G	A	26890850	3	1	22	1	0	0	0	0	1	0	0	0	11946	1059	37	1	1341	1	PIGS	17	26890850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2364	26890850	54304360	16529	18675											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	431					0	0	1	0	0	A	26918763	G	A	26918763	3	1	22	1	0	0	0	0	1	0	0	0	15037	1232	43	2	2275	2	SPAG5	17	26918763	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27913	26918763	54276447	16530	18676											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	833					0	0	1	0	0	G	26919983	A	G	26919983	2	3	22	1	0	0	0	0	0	0	0	1	15037	273	10	3		3	SPAG5	17	26919983	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1220	26919983	54275227	16531	18677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R2091H	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													281	1379					0	0	1	0	0	T	26942089	C	T	26942089	3	4	22	1	0	0	0	0	1	0	0	0	8196	768	27	1	10	1	KIAA0100	17	26942089	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22106	26942089	54253121	16532	18678											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.R1965*	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													47	209					0	0	1	0	0	A	26943182	G	A	26943182	4	1	22	1	0	0	0	0	0	1	0	0	8196	1095	38	1	397	1	KIAA0100	17	26943182	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1093	26943182	54252028	16533	18679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.G1931E	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													110	450					0	0	1	0	0	T	26943464	C	T	26943464	3	4	22	1	0	0	0	0	1	0	0	0	8196	623	22	2	502	2	KIAA0100	17	26943464	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	282	26943464	54251746	16534	18680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	257					0	0	1	0	0	A	26947532	G	A	26947532	3	1	22	1	0	0	0	0	1	0	0	0	8196	1086	38	1	1392	1	KIAA0100	17	26947532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4068	26947532	54247678	16535	18681											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	286					5.05157e-50	6.25473e-50	1	1	0	T	26964865	G	T	26964865	3	4	22	1	0	0	0	0	1	0	0	0	8196	942	33	2	5051	2	KIAA0100	17	26964865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17333	26964865	54230345	16536	18682											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	203					0	0	1	0	0	G	26965068	A	G	26965068	2	3	22	1	0	0	0	0	0	0	0	1	8196	446	16	3		3	KIAA0100	17	26965068	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	203	26965068	54230142	16537	18683											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	244					0	0	1	0	0	C	26969931	A	C	26969931	3	2	22	1	0	0	0	0	1	0	0	0	8196	242	9	3	6376	3	KIAA0100	17	26969931	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4863	26969931	54225279	16538	18684											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	237					0	0	1	0	0	T	27010748	C	T	27010748	3	4	22	1	0	0	0	0	1	0	0	0	15456	527	19	1	2205	1	SUPT6H	17	27010748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40817	27010748	54184462	16539	18685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	144					0	0	1	0	0	A	27010820	G	A	27010820	3	1	22	1	0	0	0	0	1	0	0	0	15456	1175	41	2	2277	2	SUPT6H	17	27010820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72	27010820	54184390	16540	18686											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	198					0	0	1	0	0	T	27022515	C	T	27022515	3	4	22	1	0	0	0	0	1	0	0	0	15456	797	28	2	4030	2	SUPT6H	17	27022515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11695	27022515	54172695	16541	18687											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													140	614					0	0	1	0	0	T	27027385	C	T	27027385	3	4	22	1	0	0	0	0	1	0	0	0	15456	739	26	2	4795	2	SUPT6H	17	27027385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4870	27027385	54167825	16542	18688											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	152					0	0	1	0	0	C	27061014	T	C	27061014	3	2	22	1	0	0	0	0	1	0	0	0	10377	1696	59	3	67	3	NEK8	17	27061014	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33629	27061014	54134196	16543	18689											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	543					0	0	1	0	0	T	27067558	C	T	27067558	4	4	22	1	0	0	0	0	0	1	0	0	10377	760	27	1	1537	1	NEK8	17	27067558	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6544	27067558	54127652	16544	18690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	98					0	0	1	0	0	T	27071139	C	T	27071139	2	4	22	1	0	0	0	0	0	0	0	1	16504	784	28	2		2	TRAF4	17	27071139	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3581	27071139	54124071	16545	18691											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	299					0	0	1	0	0	T	27075073	C	T	27075073	2	4	22	1	0	0	0	0	0	0	0	1	16504	747	26	2		2	TRAF4	17	27075073	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3934	27075073	54120137	16546	18692											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	258					0	0	1	0	0	A	27076400	G	A	27076400	2	1	22	1	0	0	0	0	0	0	0	1	16504	933	33	2		2	TRAF4	17	27076400	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1327	27076400	54118810	16547	18693											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	300					0	0	1	0	0	G	27185169	A	G	27185169	3	3	22	1	0	0	0	0	1	0	0	0	5230	159	6	3	560	3	ERAL1	17	27185169	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	108769	27185169	54010041	16548	18694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585169.1_Silent_p.L398L|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394908.4_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													106	451					0	0	1	0	0	A	27207787	G	A	27207787	2	1	22	1	0	0	0	0	0	0	0	1	5970	1020	36	2		2	FLOT2	17	27207787	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22618	27207787	53987423	16549	18695											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585169.1_Missense_Mutation_p.A332V|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394908.4_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													95	416					0	0	1	0	0	A	27208313	G	A	27208313	3	1	22	1	0	0	0	0	1	0	0	0	5970	1087	38	1	303	1	FLOT2	17	27208313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	526	27208313	53986897	16550	18696											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378895.4_Missense_Mutation_p.A332T|RP11-20B24.4_ENST00000579187.1_RNA|DHRS13_ENST00000426464.2_Missense_Mutation_p.A251T|RP11-20B24.4_ENST00000580603.1_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													16	77					0	0	1	0	0	T	27225599	C	T	27225599	3	4	22	1	0	0	0	0	1	0	0	0	4517	739	26	2	143	2	DHRS13	17	27225599	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17286	27225599	53969611	16551	18697											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378895.4_Missense_Mutation_p.R140W|DHRS13_ENST00000426464.2_Missense_Mutation_p.R59W			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													88	434					0	0	1	0	0	A	27228272	G	A	27228272	3	1	22	1	0	0	0	0	1	0	0	0	4517	1057	37	1	723	1	DHRS13	17	27228272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2673	27228272	53966938	16552	18698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378895.4_Missense_Mutation_p.F91V|DHRS13_ENST00000426464.2_Intron			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													65	276					0	0	1	0	0	C	27228610	A	C	27228610	3	2	22	1	0	0	0	0	1	0	0	0	4517	72	3	3	874	3	DHRS13	17	27228610	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	338	27228610	53966600	16553	18699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	210					1.61004e-24	1.84098e-24	1	1	0	T	27233281	G	T	27233281	3	4	22	1	0	0	0	0	1	0	0	0	11871	962	34	2	83	2	PHF12	17	27233281	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4671	27233281	53961929	16554	18700											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Silent_p.P702P			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													51	202					0	0	1	0	0	A	27238239	G	A	27238239	2	1	22	1	0	0	0	0	0	0	0	1	11871	1103	39	1		1	PHF12	17	27238239	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4958	27238239	53956971	16555	18701											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442608.3_Missense_Mutation_p.Y954C|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Silent_p.L499L			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													19	67					0	0	1	0	0	C	27283229	T	C	27283229	3	2	22	1	0	0	0	0	1	0	0	0	14196	1638	57	3	105	3	SEZ6	17	27283229	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44990	27283229	53911981	16556	18702											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	381					0	0	1	0	0	T	27421850	C	T	27421850	3	4	22	1	0	0	0	0	1	0	0	0	10113	710	25	2	1688	2	MYO18A	17	27421850	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138621	27421850	53773360	16557	18703											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	65					0	0	1	0	0	T	27423801	C	T	27423801	3	4	22	1	0	0	0	0	1	0	0	0	10113	893	31	1	1861	1	MYO18A	17	27423801	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1951	27423801	53771409	16558	18704											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	193					0	0	1	0	0	A	27430619	G	A	27430619	3	1	22	1	0	0	0	0	1	0	0	0	10113	1115	39	1	2747	1	MYO18A	17	27430619	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6818	27430619	53764591	16559	18705											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	379					1.42033e-22	1.60844e-22	1	1	0	T	27448960	G	T	27448960	3	4	22	1	0	0	0	0	1	0	0	0	10113	942	33	2	5217	2	MYO18A	17	27448960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18341	27448960	53746250	16560	18706											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	42					3.07112e-06	3.16074e-06	1	1	0	A	27493855	C	A	27493855	3	1	22	1	0	0	0	0	1	0	0	0	10113	797	28	2	6224	2	MYO18A	17	27493855	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44895	27493855	53701355	16561	18707											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	434					0	0	1	0	0	G	27816730	A	G	27816730	3	3	22	1	0	0	0	0	1	0	0	0	15604	449	16	3	734	3	TAOK1	17	27816730	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	322875	27816730	53378480	16562	18708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	347					0	0	1	0	0	T	27849349	C	T	27849349	4	4	22	1	0	0	0	0	0	1	0	0	15604	644	23	1	2022	1	TAOK1	17	27849349	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32619	27849349	53345861	16563	18709											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	331					0	0	1	0	0	A	27889827	G	A	27889827	3	1	22	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	16564	18710											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-68I3.2_ENST00000581474.1_RNA|TP53I13_ENST00000584522.1_Intron	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													31	156					1.36615e-20	1.53219e-20	1	1	0	T	27893616	G	T	27893616	2	4	22	1	0	0	0	0	0	0	0	1	81	1219	43	2		2	ABHD15	17	27893616	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3789	27893616	53301594	16565	18711											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	213					1.48734e-19	1.65976e-19	1	1	0	T	27899263	G	T	27899263	3	4	22	1	0	0	0	0	1	0	0	0	16447	1000	35	2	639	2	TP53I13	17	27899263	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5647	27899263	53295947	16566	18712											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	GIT1_ENST00000394869.3_Missense_Mutation_p.F116V|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000581348.1_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													58	204					0	0	1	0	0	C	27909775	A	C	27909775	3	2	22	1	0	0	0	0	1	0	0	0	6438	101	4	3	2038	3	GIT1	17	27909775	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10512	27909775	53285435	16567	18713											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	GIT1_ENST00000394869.3_Missense_Mutation_p.R52H|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000581348.1_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													32	138					0	0	1	0	0	T	27910532	C	T	27910532	3	4	22	1	0	0	0	0	1	0	0	0	6438	768	27	1	2237	1	GIT1	17	27910532	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	757	27910532	53284678	16568	18714											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	113					0	0	1	0	0	T	27939445	C	T	27939445	2	4	22	1	0	0	0	0	0	0	0	1	638	535	19	1		1	ANKRD13B	17	27939445	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28913	27939445	53255765	16569	18715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541045.1_Missense_Mutation_p.R266H|EFCAB5_ENST00000378738.3_Missense_Mutation_p.R609H|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R609H	NM_198529.3	NP_940931.2	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													104	542					0	0	1	0	0	A	28380798	G	A	28380798	3	1	22	1	0	0	0	0	1	0	0	0	4964	1087	38	1	1864	1	EFCAB5	17	28380798	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	441353	28380798	52814412	16570	18716											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541045.1_Missense_Mutation_p.I324T|EFCAB5_ENST00000378738.3_Missense_Mutation_p.I667T|EFCAB5_ENST00000320856.5_Missense_Mutation_p.I667T	NM_198529.3	NP_940931.2	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													15	176					0	0	1	0	0	C	28380972	T	C	28380972	3	2	22	1	0	0	0	0	1	0	0	0	4964	1406	49	3	2038	3	EFCAB5	17	28380972	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	174	28380972	52814238	16571	18717											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	EFCAB5_ENST00000536908.2_Intron|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.R869*|EFCAB5_ENST00000541045.1_Intron|AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.R869*|EFCAB5_ENST00000320856.5_Intron	NM_198529.3	NP_940931.2	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													87	376					0	0	1	0	0	T	28386587	C	T	28386587	4	4	22	1	0	0	0	0	0	1	0	0	4964	644	23	1	2659	1	EFCAB5	17	28386587	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5615	28386587	52808623	16572	18718											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	EFCAB5_ENST00000536908.2_Intron|EFCAB5_ENST00000394832.2_Missense_Mutation_p.K902N|EFCAB5_ENST00000541045.1_Intron|AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000378738.3_Missense_Mutation_p.K902N|EFCAB5_ENST00000320856.5_Intron	NM_198529.3	NP_940931.2	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													52	186					2.55665e-31	3.00904e-31	1	1	0	T	28386688	G	T	28386688	3	4	22	1	0	0	0	0	1	0	0	0	4964	991	35	2	2760	2	EFCAB5	17	28386688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101	28386688	52808522	16573	18719											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_940931.2	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													109	415					0	0	1	0	0	A	28417522	G	A	28417522	3	1	22	1	0	0	0	0	1	0	0	0	4964	1145	40	1	4012	1	EFCAB5	17	28417522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30834	28417522	52777688	16574	18720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_940931.2	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													80	392					0	0	1	0	0	T	28435016	C	T	28435016	3	4	22	1	0	0	0	0	1	0	0	0	4964	739	26	2	4743	2	EFCAB5	17	28435016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17494	28435016	52760194	16575	18721											
SLC6A4	6532	broad.mit.edu	37	chr17	28538374	28538374	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taacatcagaaagaagatgaTggcaaagaaagtggacgctg	12	5	1	5	rs28914832	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28538374T>C	ENST00000401766.2	-	9	1785	c.1273A>G	c.(1273-1275)Atc>Gtc	p.I425V	SLC6A4_ENST00000261707.3_Missense_Mutation_p.I425V			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	425			I -> L (in dbSNP:rs28914832).|I -> V (polymorphism linked with susceptibility to obsessive-compulsive disorder; increased serotonin transport capacity).		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)	AAGAAGATGATGGCAAAGAAA	0.537													35	183					0	0	1	0	0	C	28538374	T	C	28538374	3	2	22	1	0	0	0	0	1	0	0	0	14741	1464	51	3	643	3	SLC6A4	17	28538374	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	103358	28538374	52656836	16576	18722											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	98					0	0	1	0	0	C	28890251	T	C	28890251	3	2	22	1	0	0	0	0	1	0	0	0	15675	1829	64	3	279	3	TBC1D29	17	28890251	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	351877	28890251	52304959	16577	18723											
ATAD5	79915	broad.mit.edu	37	chr17	29161693	29161693	+	Frame_Shift_Del	DEL	A	A	-													aatcctaaacaagggaccacAaaaaatgacttcaaaaagtt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29161693delA	ENST00000321990.4	+	2	972	c.594delA	c.(592-594)acfs	p.T198fs	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	198					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)				AAGGGACCACAAAAAATGACT	0.338													16	539	---	---	---	---						-	29161693	A	-	29161693	7	5	22	1	0	1	0	1	0	0	0	0	1075	117	5	0	600	0	ATAD5	17	29161693	Frame_Shift_Del	DEL	A	TCGA-IB-7651-01A-11D-2154-08	271442	29161693	52033517	16578	18724											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	274					0	0	1	0	0	G	29162657	T	G	29162657	3	3	22	1	0	0	0	0	1	0	0	0	1075	1838	64	3	1564	3	ATAD5	17	29162657	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	964	29162657	52032553	16579	18725											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	346					0	0	1	0	0	T	29196541	C	T	29196541	3	4	22	1	0	0	0	0	1	0	0	0	1075	768	27	1	3538	1	ATAD5	17	29196541	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33884	29196541	51998669	16580	18726											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	274					1.48873e-21	1.67879e-21	1	1	0	T	29196652	G	T	29196652	3	4	22	1	0	0	0	0	1	0	0	0	1075	1000	35	2	3649	2	ATAD5	17	29196652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	29196652	51998558	16581	18727											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													159	672					0	0	1	0	0	T	29250056	C	T	29250056	4	4	22	1	0	0	0	0	0	1	0	0	279	760	27	1	199	1	ADAP2	17	29250056	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53404	29250056	51945154	16582	18728											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	90					0	0	1	0	0	A	29284866	G	A	29284866	2	1	22	1	0	0	0	0	0	0	0	1	279	933	33	2		2	ADAP2	17	29284866	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34810	29284866	51910344	16583	18729											
NF1	4763	broad.mit.edu	37	chr17	29486049	29486050	+	Frame_Shift_Ins	INS	-	-	A													aatatttggagaagctgctgINSaaaaaaatttatatctctct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29486049_29486050insA	ENST00000358273.4	+	3	609_610	c.226_227insA	c.(226-228)aaafs	p.K76fs	NF1_ENST00000431387.4_Frame_Shift_Ins_p.K76fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.K76fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	76					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)|p.E76fs*31(1)	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)		AGAAGCTGCTGAAAAAAATTTA	0.327			"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)			28	328	---	---	---	---						A	29486050	-	A	29486049	7	5	22	1	0	1	1	0	0	0	0	0	10403	1291	45	0	236	0	NF1	17	29486049	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	201183	29486049	51709161	16584	18730											
NF1	4763	broad.mit.edu	37	chr17	29661916	29661917	+	Frame_Shift_Ins	INS	-	-	T													tggctgtcaaatctagttcgINStttttgcaagcataatgatg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29661916_29661917insT	ENST00000358273.4	+	40	6256_6257	c.5873_5874insT	c.(5872-5874)cttfs	p.L1958fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.L1937fs|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1958					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)		AATCTAGTTCGTTTTTGCAAGC	0.356			"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)			62	275	---	---	---	---						T	29661917	-	T	29661916	7	5	22	1	0	1	1	0	0	0	0	0	10403	1145	40	0	6092	0	NF1	17	29661916	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	175867	29661916	51533294	16585	18731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356175.3_Missense_Mutation_p.T1951A|NF1_ENST00000581113.2_3'UTR	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)			65	263					0	0	1	0	0	G	29661957	A	G	29661957	3	3	22	1	0	0	0	0	1	0	0	0	10403	391	14	3	6133	3	NF1	17	29661957	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41	29661957	51533253	16586	18732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	373					0	0	1	0	0	A	29855524	G	A	29855524	3	1	22	1	0	0	0	0	1	0	0	0	12948	1087	38	1	1503	1	RAB11FIP4	17	29855524	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	193567	29855524	51339686	16587	18733											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000584368.1_Silent_p.C538C|LRRC37B_ENST00000394713.3_Silent_p.C526C|LRRC37B_ENST00000341671.7_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													109	493					0	0	1	0	0	T	30349743	C	T	30349743	2	4	22	1	0	0	0	0	0	0	0	1	9039	776	27	1		1	LRRC37B	17	30349743	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	494219	30349743	50845467	16588	18734											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000584368.1_Silent_p.V630V|LRRC37B_ENST00000394713.3_Silent_p.V618V|LRRC37B_ENST00000341671.7_Silent_p.V669V|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													21	209					0	0	1	0	0	T	30361959	C	T	30361959	2	4	22	1	0	0	0	0	0	0	0	1	9039	871	31	1		1	LRRC37B	17	30361959	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12216	30361959	50833251	16589	18735											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000584368.1_Missense_Mutation_p.K657T|LRRC37B_ENST00000394713.3_Missense_Mutation_p.K645T|LRRC37B_ENST00000341671.7_Missense_Mutation_p.K696T|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													170	698					0	0	1	0	0	C	30362622	A	C	30362622	3	2	22	1	0	0	0	0	1	0	0	0	9039	72	3	3	2113	3	LRRC37B	17	30362622	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	663	30362622	50832588	16590	18736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000584368.1_Nonsense_Mutation_p.R806*|LRRC37B_ENST00000394713.3_Nonsense_Mutation_p.R794*|LRRC37B_ENST00000341671.7_Nonsense_Mutation_p.R845*|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													70	294					0	0	1	0	0	T	30376270	C	T	30376270	4	4	22	1	0	0	0	0	0	1	0	0	9039	760	27	1	2571	1	LRRC37B	17	30376270	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13648	30376270	50818940	16591	18737											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536287.1_Missense_Mutation_p.A211D|RHBDL3_ENST00000538145.1_Missense_Mutation_p.A301D	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													218	848					5.40457e-69	6.85597e-69	1	1	0	A	30643294	C	A	30643294	3	1	22	1	0	0	0	0	1	0	0	0	13373	797	28	2	956	2	RHBDL3	17	30643294	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	267024	30643294	50551916	16592	18738											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	C17orf75_ENST00000225805.4_Missense_Mutation_p.T140A|RP11-227G15.3_ENST00000581915.1_RNA	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													51	462					0	0	1	0	0	C	30665300	T	C	30665300	3	2	22	1	0	0	0	0	1	0	0	0	1890	1725	60	3	800	3	C17orf75	17	30665300	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22006	30665300	50529910	16593	18739											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	C17orf75_ENST00000225805.4_Missense_Mutation_p.S76P|RP11-227G15.3_ENST00000581915.1_RNA	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													57	193					0	0	1	0	0	G	30666953	A	G	30666953	3	3	22	1	0	0	0	0	1	0	0	0	1890	304	11	3	996	3	C17orf75	17	30666953	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1653	30666953	50528257	16594	18740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394673.2_Missense_Mutation_p.R462H|ZNF207_ENST00000342555.6_Missense_Mutation_p.R496H|ZNF207_ENST00000321233.6_Missense_Mutation_p.R477H|ZNF207_ENST00000577908.1_Intron|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													33	221					0	0	1	0	0	A	30696771	G	A	30696771	3	1	22	1	0	0	0	0	1	0	0	0	17823	1145	40	1	1524	1	ZNF207	17	30696771	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29818	30696771	50498439	16595	18741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	313					1.93348e-29	2.25966e-29	1	1	0	A	30796059	C	A	30796059	3	1	22	1	0	0	0	0	1	0	0	0	12743	797	28	2	513	2	PSMD11	17	30796059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99288	30796059	50399151	16596	18742											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	288					0	0	1	0	0	A	30815096	G	A	30815096	3	1	22	1	0	0	0	0	1	0	0	0	3165	1087	38	1	460	1	CDK5R1	17	30815096	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19037	30815096	50380114	16597	18743											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	128					0	0	1	0	0	A	30980908	G	A	30980908	3	1	22	1	0	0	0	0	1	0	0	0	10119	1144	40	1	488	1	MYO1D	17	30980908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165812	30980908	50214302	16598	18744											
MYO1D	4642	broad.mit.edu	37	chr17	31082531	31082531	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcggctggaaaaatgggcGtgtttgcccaatttactgtt	11	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31082531G>A	ENST00000318217.5	-	11	1750	c.1446C>T	c.(1444-1446)caC>caT	p.H482H	MYO1D_ENST00000394649.4_Silent_p.H394H|MYO1D_ENST00000579584.1_Silent_p.H482H|MYO1D_ENST00000584232.1_5'UTR	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	482	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)			AAAAATGGGCGTGTTTGCCCA	0.393													58	296					0	0	1	0	0	A	31082531	G	A	31082531	2	1	22	1	0	0	0	0	0	0	0	1	10119	1136	40	1		1	MYO1D	17	31082531	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101623	31082531	50112679	16599	18745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	294					0	0	1	0	0	T	31263420	C	T	31263420	3	4	22	1	0	0	0	0	1	0	0	0	16285	739	26	2	382	2	TMEM98	17	31263420	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180889	31263420	49931790	16600	18746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	212					0	0	1	0	0	A	31266550	G	A	31266550	3	1	22	1	0	0	0	0	1	0	0	0	16285	1087	38	1	487	1	TMEM98	17	31266550	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3130	31266550	49928660	16601	18747											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000269053.3_Missense_Mutation_p.G106R|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_Intron			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													28	156					0	0	1	0	0	A	31322708	G	A	31322708	3	1	22	1	0	0	0	0	1	0	0	0	15027	1117	39	1	322	1	SPACA3	17	31322708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56158	31322708	49872502	16602	18748											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	504					0	0	1	0	0	T	32687649	C	T	32687649	3	4	22	1	0	0	0	0	1	0	0	0	2902	768	27	1	74	1	CCL1	17	32687649	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1364941	32687649	48507561	16603	18749											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	194					4.10826e-27	4.75084e-27	1	1	0	A	32690113	C	A	32690113	3	1	22	1	0	0	0	0	1	0	0	0	2902	797	28	2	234	2	CCL1	17	32690113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2464	32690113	48505097	16604	18750											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													160	590					0	0	1	0	0	T	32906007	C	T	32906007	3	4	22	1	0	0	0	0	1	0	0	0	1856	623	22	2	218	2	C17orf102	17	32906007	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	215894	32906007	48289203	16605	18751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	594					0	0	1	0	0	T	32956037	C	T	32956037	2	4	22	1	0	0	0	0	0	0	0	1	16108	726	26	2		2	TMEM132E	17	32956037	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50030	32956037	48239173	16606	18752											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	60					0	0	1	0	0	T	32965106	C	T	32965106	3	4	22	1	0	0	0	0	1	0	0	0	16108	739	26	2	2848	2	TMEM132E	17	32965106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9069	32965106	48230104	16607	18753											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000268850.7_Missense_Mutation_p.A184V|RFFL_ENST00000584655.1_Missense_Mutation_p.A184V|RFFL_ENST00000378516.2_Missense_Mutation_p.A184V|RFFL_ENST00000413582.2_Missense_Mutation_p.A184V|RFFL_ENST00000394597.2_Missense_Mutation_p.A184V|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000447669.2_Missense_Mutation_p.A184V|RFFL_ENST00000415395.2_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													37	162					0	0	1	0	0	A	33348430	G	A	33348430	3	1	22	1	0	0	0	0	1	0	0	0	13302	1203	42	2	560	2	RFFL	17	33348430	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	383324	33348430	47846780	16608	18754											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000268850.7_Missense_Mutation_p.R145K|RFFL_ENST00000584655.1_Missense_Mutation_p.R145K|RFFL_ENST00000378516.2_Missense_Mutation_p.R145K|RFFL_ENST00000413582.2_Missense_Mutation_p.R145K|RFFL_ENST00000394597.2_Missense_Mutation_p.R145K|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000447669.2_Missense_Mutation_p.R145K|RFFL_ENST00000415395.2_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													44	147					0	0	1	0	0	T	33348547	C	T	33348547	3	4	22	1	0	0	0	0	1	0	0	0	13302	681	24	2	677	2	RFFL	17	33348547	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117	33348547	47846663	16609	18755											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													163	851					0	0	1	0	0	G	33454299	A	G	33454299	3	3	22	1	0	0	0	0	1	0	0	0	6007	159	6	3	454	3	FNDC8	17	33454299	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	105752	33454299	47740911	16610	18756											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													230	1162					0	0	1	0	0	T	33463193	C	T	33463193	3	4	22	1	0	0	0	0	1	0	0	0	10507	536	19	1	471	1	NLE1	17	33463193	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8894	33463193	47732017	16611	18757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360831.5_Silent_p.G202G|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR	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													10	409					7.48243e-07	7.73841e-07	1	1	0	A	33464116	C	A	33464116	2	1	22	1	0	0	0	0	0	0	0	1	10507	726	26	2		2	NLE1	17	33464116	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	923	33464116	47731094	16612	18758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360831.5_Missense_Mutation_p.G74V|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR	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													33	174					3.6622e-26	4.21603e-26	1	1	0	A	33467027	C	A	33467027	3	1	22	1	0	0	0	0	1	0	0	0	10507	623	22	2	1280	2	NLE1	17	33467027	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2911	33467027	47728183	16613	18759											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378449.1_Silent_p.P389P|UNC45B_ENST00000394570.2_Silent_p.P389P|UNC45B_ENST00000433649.1_Silent_p.P389P|UNC45B_ENST00000591048.1_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													37	198					1.04594e-18	1.16214e-18	1	1	0	A	33495095	C	A	33495095	2	1	22	1	0	0	0	0	0	0	0	1	17049	610	22	2		2	UNC45B	17	33495095	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28068	33495095	47700115	16614	18760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378449.1_Missense_Mutation_p.Q415H|UNC45B_ENST00000394570.2_Missense_Mutation_p.Q415H|UNC45B_ENST00000433649.1_Missense_Mutation_p.Q415H|UNC45B_ENST00000591048.1_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													39	203					3.38236e-24	3.86174e-24	1	1	0	T	33495173	G	T	33495173	3	4	22	1	0	0	0	0	1	0	0	0	17049	962	34	2	1279	2	UNC45B	17	33495173	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78	33495173	47700037	16615	18761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	351					0	0	1	0	0	C	33591403	A	C	33591403	3	2	22	1	0	0	0	0	1	0	0	0	14791	43	2	3	1350	3	SLFN5	17	33591403	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	96230	33591403	47603807	16616	18762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	325					1.67886e-27	1.94484e-27	1	1	0	T	33592666	G	T	33592666	3	4	22	1	0	0	0	0	1	0	0	0	14791	1000	35	2	2449	2	SLFN5	17	33592666	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1263	33592666	47602544	16617	18763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	1032					0	0	1	0	0	G	33904391	A	G	33904391	3	3	22	1	0	0	0	0	1	0	0	0	11788	333	12	3	741	3	PEX12	17	33904391	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	311725	33904391	47290819	16618	18764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545922.2_3'UTR|AP2B1_ENST00000538556.1_Silent_p.L690L|AP2B1_ENST00000312678.8_Silent_p.L761L|AP2B1_ENST00000537622.2_Silent_p.L761L|AP2B1_ENST00000589344.1_Silent_p.L761L|AP2B1_ENST00000592545.1_Silent_p.L723L	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													9	633					0	0	1	0	0	T	34001297	C	T	34001297	2	4	22	1	0	0	0	0	0	0	0	1	737	912	32	2		2	AP2B1	17	34001297	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96906	34001297	47193913	16619	18765											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545922.2_3'UTR|AP2B1_ENST00000538556.1_Missense_Mutation_p.Y855C|AP2B1_ENST00000312678.8_Missense_Mutation_p.Y926C|AP2B1_ENST00000537622.2_Missense_Mutation_p.Y926C|AP2B1_ENST00000589344.1_Missense_Mutation_p.Y926C|AP2B1_ENST00000592545.1_Missense_Mutation_p.Y888C	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													7	433					0	0	1	0	0	G	34044364	A	G	34044364	3	3	22	1	0	0	0	0	1	0	0	0	737	391	14	3	2855	3	AP2B1	17	34044364	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	43067	34044364	47150846	16620	18766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	843					0	0	1	0	0	A	34073243	T	A	34073243	3	1	22	1	0	0	0	0	1	0	0	0	6287	1725	60	5	1373	5	GAS2L2	17	34073243	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28879	34073243	47121967	16621	18767											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|AC015849.13_ENST00000589356.1_RNA|TAF15_ENST00000592237.1_5'UTR|TAF15_ENST00000311979.3_Silent_p.N82N	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"								67	310					0	0	1	0	0	T	34147406	C	T	34147406	2	4	22	1	0	0	0	0	0	0	0	1	15575	506	18	2		2	TAF15	17	34147406	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74163	34147406	47047804	16622	18768											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000592237.1_Missense_Mutation_p.R304W|TAF15_ENST00000311979.3_Missense_Mutation_p.R392W	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"								184	708					0	0	1	0	0	T	34171486	C	T	34171486	3	4	22	1	0	0	0	0	1	0	0	0	15575	643	23	1	1241	1	TAF15	17	34171486	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24080	34171486	47023724	16623	18769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000592237.1_Missense_Mutation_p.T346A|TAF15_ENST00000311979.3_Missense_Mutation_p.Y538C	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"								99	428					0	0	1	0	0	G	34171925	A	G	34171925	3	3	22	1	0	0	0	0	1	0	0	0	15575	391	14	3	1680	3	TAF15	17	34171925	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	439	34171925	47023285	16624	18770											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	68					0	0	1	0	0	A	34308401	G	A	34308401	3	1	22	1	0	0	0	0	1	0	0	0	2907	1059	37	1	318	1	CCL16	17	34308401	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136476	34308401	46886809	16625	18771											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000441575.1_RNA|AC069363.1_ENST00000590992.1_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													108	528					1.93806e-58	2.4311e-58	1	1	0	A	34416585	C	A	34416585	3	1	22	1	0	0	0	0	1	0	0	0	2921	912	32	2	154	2	CCL3	17	34416585	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108184	34416585	46778625	16626	18772											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	527					0	0	1	0	0	A	34849821	G	A	34849821	3	1	22	1	0	0	0	0	1	0	0	0	18250	942	33	2	271	2	ZNHIT3	17	34849821	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	433236	34849821	46345389	16627	18773											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	28					0	0	1	0	0	A	34859841	G	A	34859841	3	1	22	1	0	0	0	0	1	0	0	0	10115	1203	42	2	1015	2	MYO19	17	34859841	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10020	34859841	46335369	16628	18774											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Missense_Mutation_p.A314T			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													18	352					0	0	1	0	0	A	34893890	G	A	34893890	3	1	22	1	0	0	0	0	1	0	0	0	11950	1203	42	2	942	2	PIGW	17	34893890	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34049	34893890	46301320	16629	18775											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Missense_Mutation_p.V361A			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													42	197					0	0	1	0	0	C	34894032	T	C	34894032	3	2	22	1	0	0	0	0	1	0	0	0	11950	1638	57	3	1084	3	PIGW	17	34894032	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	142	34894032	46301178	16630	18776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	324					6.09464e-36	7.28682e-36	1	1	0	A	34958504	C	A	34958504	3	1	22	1	0	0	0	0	1	0	0	0	9820	797	28	2	267	2	MRM1	17	34958504	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64472	34958504	46236706	16631	18777											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	289					0	0	1	0	0	A	35297966	G	A	35297966	3	1	22	1	0	0	0	0	1	0	0	0	8810	1087	38	1	467	1	LHX1	17	35297966	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	339462	35297966	45897244	16632	18778											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	105					0	0	1	0	0	T	35298099	C	T	35298099	3	4	22	1	0	0	0	0	1	0	0	0	8810	739	26	2	600	2	LHX1	17	35298099	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133	35298099	45897111	16633	18779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35446008G>T	ENST00000353139.5	-	55	7374	c.6891_splice	c.e55-1	p.A2298_splice	ACACA_ENST00000335166.5_Splice_Site_p.A2183_splice|ACACA_ENST00000360679.3_Splice_Site_p.A2203_splice|ACACA_ENST00000394406.2_Splice_Site_p.A2261_splice|ACACA_ENST00000361253.5_Splice_Site_p.A387_splice	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													136	582					1.02165e-56	1.27875e-56	1	1	0	T	35446008	G	T	35446008	5	4	22	1	0	0	0	0	0	0	1	0	106	985	34	2	266	2	ACACA	17	35446008	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	147909	35446008	45749202	16634	18780											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360679.3_Missense_Mutation_p.I2147V|ACACA_ENST00000394406.2_Missense_Mutation_p.I2205V|ACACA_ENST00000361253.5_Missense_Mutation_p.I331V	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													37	216					0	0	1	0	0	C	35454098	T	C	35454098	3	2	22	1	0	0	0	0	1	0	0	0	106	1406	49	3	439	3	ACACA	17	35454098	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8090	35454098	45741112	16635	18781											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360679.3_Missense_Mutation_p.H1849Y|ACACA_ENST00000394406.2_Missense_Mutation_p.H1907Y|ACACA_ENST00000361253.5_Missense_Mutation_p.H33Y	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													24	177					0	0	1	0	0	A	35486405	G	A	35486405	3	1	22	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	16636	18782											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360679.3_Missense_Mutation_p.A1339T|ACACA_ENST00000394406.2_Missense_Mutation_p.A1397T	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													43	286					0	0	1	0	0	T	35549147	C	T	35549147	3	4	22	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	16637	18783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													192	677					0	0	1	0	0	A	35837053	T	A	35837053	3	1	22	1	0	0	0	0	1	0	0	0	15567	1783	62	5	1451	5	TADA2A	17	35837053	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	287906	35837053	45358157	16638	18784											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	326					0	0	1	0	0	T	35872880	C	T	35872880	3	4	22	1	0	0	0	0	1	0	0	0	4840	893	31	1	508	1	DUSP14	17	35872880	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35827	35872880	45322330	16639	18785											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585472.1_Silent_p.I1126I|SYNRG_ENST00000345615.4_Silent_p.I1127I|SYNRG_ENST00000346661.4_Silent_p.I1205I|SYNRG_ENST00000591288.1_Silent_p.I999I|SYNRG_ENST00000502449.2_Silent_p.I1082I|SYNRG_ENST00000394378.2_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													45	224					0	0	1	0	0	A	35896132	G	A	35896132	2	1	22	1	0	0	0	0	0	0	0	1	15517	1048	37	1		1	SYNRG	17	35896132	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23252	35896132	45299078	16640	18786											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585472.1_Missense_Mutation_p.D735G|SYNRG_ENST00000345615.4_Missense_Mutation_p.D736G|SYNRG_ENST00000346661.4_Missense_Mutation_p.D814G|SYNRG_ENST00000591288.1_Missense_Mutation_p.D653G|SYNRG_ENST00000502449.2_Missense_Mutation_p.D736G|SYNRG_ENST00000394378.2_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													93	306					0	0	1	0	0	C	35913384	T	C	35913384	3	2	22	1	0	0	0	0	1	0	0	0	15517	1435	50	3	1612	3	SYNRG	17	35913384	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17252	35913384	45281826	16641	18787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585472.1_Missense_Mutation_p.G490D|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000345615.4_Missense_Mutation_p.G491D|SYNRG_ENST00000346661.4_Missense_Mutation_p.G569D|SYNRG_ENST00000591288.1_Missense_Mutation_p.G408D|SYNRG_ENST00000502449.2_Missense_Mutation_p.G491D|SYNRG_ENST00000394378.2_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													72	449					0	0	1	0	0	T	35914119	C	T	35914119	3	4	22	1	0	0	0	0	1	0	0	0	15517	507	18	2	2347	2	SYNRG	17	35914119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	735	35914119	45281091	16642	18788											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	478					6.25226e-48	7.70577e-48	1	1	0	T	36484336	G	T	36484336	3	4	22	1	0	0	0	0	1	0	0	0	6714	1174	41	2	1991	2	GPR179	17	36484336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	570217	36484336	44710874	16643	18789											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.P1132L	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													8	44					0	0	1	0	0	A	36700182	G	A	36700182	3	1	22	1	0	0	0	0	1	0	0	0	15192	1232	43	2	266	2	SRCIN1	17	36700182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215846	36700182	44495028	16644	18790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	660					0	0	1	0	0	T	36926743	C	T	36926743	2	4	22	1	0	0	0	0	0	0	0	1	11985	755	27	1		1	PIP4K2B	17	36926743	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	226561	36926743	44268467	16645	18791											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36963202G>T	ENST00000225428.4	-	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)	240										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						GGACCCTGAAGACCCTGGTTA	0.512													66	306					5.00936e-31	5.8875e-31	1	1	0	T	36963202	G	T	36963202	3	4	22	1	0	0	0	0	1	0	0	0	4092	942	33	2	575	2	CWC25	17	36963202	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36459	36963202	44232008	16646	18792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	452					0	0	1	0	0	G	37113493	T	G	37113493	3	3	22	1	0	0	0	0	1	0	0	0	5789	1838	64	3	1024	3	FBXO47	17	37113493	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	150291	37113493	44081717	16647	18793											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000539608.1_3'UTR|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													57	266					1.55088e-19	1.7306e-19	1	1	0	A	37234180	C	A	37234180	3	1	22	1	0	0	0	0	1	0	0	0	12165	797	28	2	346	2	PLXDC1	17	37234180	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120687	37234180	43961030	16648	18794											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000539608.1_3'UTR|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													55	259					0	0	1	0	0	T	37234253	C	T	37234253	3	4	22	1	0	0	0	0	1	0	0	0	12165	797	28	2	419	2	PLXDC1	17	37234253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73	37234253	43960957	16649	18795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394316.2_Silent_p.L305L|PLXDC1_ENST00000539608.1_Intron|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													14	89					0	0	1	0	0	T	37239786	C	T	37239786	2	4	22	1	0	0	0	0	0	0	0	1	12165	697	25	2		2	PLXDC1	17	37239786	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5533	37239786	43955424	16650	18796											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394316.2_Missense_Mutation_p.D258N|PLXDC1_ENST00000539608.1_Missense_Mutation_p.D185N|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													152	620					0	0	1	0	0	T	37262146	C	T	37262146	3	4	22	1	0	0	0	0	1	0	0	0	12165	855	30	2	762	2	PLXDC1	17	37262146	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22360	37262146	43933064	16651	18797											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394316.2_Missense_Mutation_p.R42W|PLXDC1_ENST00000539608.1_5'UTR|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													51	272					0	0	1	0	0	A	37296038	G	A	37296038	3	1	22	1	0	0	0	0	1	0	0	0	12165	1086	38	1	1430	1	PLXDC1	17	37296038	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33892	37296038	43899172	16652	18798											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	382					0	0	1	0	0	T	37371375	C	T	37371375	3	4	22	1	0	0	0	0	1	0	0	0	15296	797	28	2	568	2	STAC2	17	37371375	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75337	37371375	43823835	16653	18799											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			73	296					0	0	1	0	0	T	37564749	C	T	37564749	3	4	22	1	0	0	0	0	1	0	0	0	9475	739	26	2	1024	2	MED1	17	37564749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193374	37564749	43630461	16654	18800											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37584042A>G	ENST00000300651.6	-	10	874	c.649_splice	c.e10-1	p.G217_splice	MED1_ENST00000394287.3_Splice_Site_p.G217_splice	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)			19	93					0	0	1	0	0	G	37584042	A	G	37584042	5	3	22	1	0	0	0	0	0	0	1	0	9475	289	10	3	4126	3	MED1	17	37584042	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19293	37584042	43611168	16655	18801											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			118	407					0	0	1	0	0	C	37618956	A	C	37618956	3	2	22	1	0	0	0	0	1	0	0	0	3150	14	1	3	634	3	CDK12	17	37618956	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34914	37618956	43576254	16656	18802											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			172	614					4.04931e-71	5.14713e-71	1	1	0	A	37627662	C	A	37627662	3	1	22	1	0	0	0	0	1	0	0	0	3150	681	24	2	1583	2	CDK12	17	37627662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8706	37627662	43567548	16657	18803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540147.1_Missense_Mutation_p.A57T|ERBB2_ENST00000269571.5_Missense_Mutation_p.A87T|ERBB2_ENST00000584601.1_Missense_Mutation_p.A57T|ERBB2_ENST00000584450.1_Missense_Mutation_p.A87T|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540042.1_Missense_Mutation_p.A57T|ERBB2_ENST00000578199.1_Missense_Mutation_p.A57T|ERBB2_ENST00000541774.1_Missense_Mutation_p.A72T	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)			91	354					0	0	1	0	0	A	37864607	G	A	37864607	3	1	22	1	0	0	0	0	1	0	0	0	5234	1087	38	1	269	1	ERBB2	17	37864607	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	236945	37864607	43330603	16658	18804											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540147.1_Missense_Mutation_p.A309T|ERBB2_ENST00000269571.5_Missense_Mutation_p.A339T|ERBB2_ENST00000584601.1_Missense_Mutation_p.A309T|ERBB2_ENST00000584450.1_Missense_Mutation_p.A339T|ERBB2_ENST00000445658.2_Missense_Mutation_p.A63T|ERBB2_ENST00000540042.1_Missense_Mutation_p.A309T|ERBB2_ENST00000578199.1_Missense_Mutation_p.A309T|ERBB2_ENST00000541774.1_Missense_Mutation_p.A324T	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)			54	539					0	0	1	0	0	A	37868294	G	A	37868294	3	1	22	1	0	0	0	0	1	0	0	0	5234	1319	46	2	1045	2	ERBB2	17	37868294	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3687	37868294	43326916	16659	18805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540147.1_Missense_Mutation_p.V812I|ERBB2_ENST00000269571.5_Missense_Mutation_p.V842I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I|ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I	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)			50	210					0	0	1	0	0	A	37881332	G	A	37881332	3	1	22	1	0	0	0	0	1	0	0	0	5234	1145	40	1	2606	1	ERBB2	17	37881332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13038	37881332	43313878	16660	18806											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540147.1_Missense_Mutation_p.E900D|ERBB2_ENST00000269571.5_Missense_Mutation_p.E930D|ERBB2_ENST00000584601.1_Missense_Mutation_p.E900D|ERBB2_ENST00000584450.1_Missense_Mutation_p.E930D|ERBB2_ENST00000445658.2_Missense_Mutation_p.E654D|ERBB2_ENST00000541774.1_Missense_Mutation_p.E915D	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)			62	240					1.53716e-24	1.75837e-24	1	1	0	T	37882024	G	T	37882024	3	4	22	1	0	0	0	0	1	0	0	0	5234	933	33	2	2880	2	ERBB2	17	37882024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	692	37882024	43313186	16661	18807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540147.1_Missense_Mutation_p.R1116Q|ERBB2_ENST00000269571.5_Missense_Mutation_p.R1146Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.R1116Q|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000445658.2_Missense_Mutation_p.R870Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.R1131Q	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)			53	203					0	0	1	0	0	A	37883966	G	A	37883966	3	1	22	1	0	0	0	0	1	0	0	0	5234	1116	39	1	3543	1	ERBB2	17	37883966	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1942	37883966	43311244	16662	18808											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000309185.3_Missense_Mutation_p.R125H|GRB7_ENST00000394209.2_Missense_Mutation_p.R125H|GRB7_ENST00000394211.3_Missense_Mutation_p.R125H|GRB7_ENST00000445327.2_Missense_Mutation_p.R148H|GRB7_ENST00000578702.1_Intron	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													15	371					0	0	1	0	0	A	37899218	G	A	37899218	3	1	22	1	0	0	0	0	1	0	0	0	6800	1087	38	1	384	1	GRB7	17	37899218	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15252	37899218	43295992	16663	18809											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000309185.3_Silent_p.Y188Y|GRB7_ENST00000394209.2_Silent_p.Y188Y|GRB7_ENST00000394211.3_Silent_p.Y188Y|GRB7_ENST00000445327.2_Silent_p.Y211Y|GRB7_ENST00000578702.1_3'UTR	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													70	297					0	0	1	0	0	T	37899533	C	T	37899533	2	4	22	1	0	0	0	0	0	0	0	1	6800	547	19	1		1	GRB7	17	37899533	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	315	37899533	43295677	16664	18810											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000309185.3_Missense_Mutation_p.R334H|GRB7_ENST00000394209.2_Missense_Mutation_p.R334H|GRB7_ENST00000394211.3_Missense_Mutation_p.R334H|GRB7_ENST00000445327.2_Missense_Mutation_p.R357H	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													32	133					0	0	1	0	0	A	37901227	G	A	37901227	3	1	22	1	0	0	0	0	1	0	0	0	6800	1087	38	1	1031	1	GRB7	17	37901227	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1694	37901227	43293983	16665	18811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000583368.1_Missense_Mutation_p.S85L|IKZF3_ENST00000535189.1_Missense_Mutation_p.S298L|IKZF3_ENST00000467757.1_Missense_Mutation_p.S276L|IKZF3_ENST00000439167.2_Missense_Mutation_p.S259L|IKZF3_ENST00000439016.2_Missense_Mutation_p.S237L|IKZF3_ENST00000394189.2_Missense_Mutation_p.S150L|IKZF3_ENST00000377944.3_Missense_Mutation_p.S189L|IKZF3_ENST00000377958.2_Missense_Mutation_p.S245L|IKZF3_ENST00000351680.3_Missense_Mutation_p.S293L|IKZF3_ENST00000350532.3_Missense_Mutation_p.S293L|IKZF3_ENST00000346243.3_Missense_Mutation_p.S254L|IKZF3_ENST00000377945.3_Missense_Mutation_p.S198L|IKZF3_ENST00000377952.2_Missense_Mutation_p.S111L	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													12	413					0	0	1	0	0	A	37922578	G	A	37922578	3	1	22	1	0	0	0	0	1	0	0	0	7660	1059	37	1	538	1	IKZF3	17	37922578	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21351	37922578	43272632	16666	18812											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													154	779					0	0	1	0	0	G	38033007	A	G	38033007	3	3	22	1	0	0	0	0	1	0	0	0	18262	449	16	3	992	3	ZPBP2	17	38033007	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	110429	38033007	43162203	16667	18813											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360317.3_Missense_Mutation_p.R208Q|GSDMB_ENST00000520542.1_Missense_Mutation_p.R208Q|GSDMB_ENST00000418519.1_Missense_Mutation_p.R208Q|GSDMB_ENST00000394179.1_Missense_Mutation_p.R208Q|GSDMB_ENST00000309481.7_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													180	771					0	0	1	0	0	T	38065249	C	T	38065249	3	4	22	1	0	0	0	0	1	0	0	0	6858	884	31	1	655	1	GSDMB	17	38065249	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32242	38065249	43129961	16668	18814											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	540					0	0	1	0	0	A	38142955	G	A	38142955	3	1	22	1	0	0	0	0	1	0	0	0	12748	1087	38	1	549	1	PSMD3	17	38142955	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77706	38142955	43052255	16669	18815											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	693					0	0	1	0	0	T	38151281	C	T	38151281	2	4	22	1	0	0	0	0	0	0	0	1	12748	610	22	2		2	PSMD3	17	38151281	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8326	38151281	43043929	16670	18816											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38282635G>A	ENST00000398532.3	+	2	1283	c.968G>A	c.(967-969)gGg>gAg	p.G323E	MSL1_ENST00000577454.1_Missense_Mutation_p.G323E|MSL1_ENST00000578648.1_Missense_Mutation_p.G323E|MSL1_ENST00000579565.1_Missense_Mutation_p.G60E			Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	323					histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						TTCTCATGTGGGCGGAGTGGA	0.478													23	137					0	0	1	0	0	A	38282635	G	A	38282635	3	1	22	1	0	0	0	0	1	0	0	0	9926	1232	43	2	181	2	MSL1	17	38282635	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131354	38282635	42912575	16671	18817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38289356G>T	ENST00000398532.3	+	6	1865	c.1550G>T	c.(1549-1551)aGg>aTg	p.R517M	MSL1_ENST00000578648.1_Missense_Mutation_p.R501M|MSL1_ENST00000579565.1_Missense_Mutation_p.R254M			Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	517					histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						GAGAAGAGAAGGAAAAGGTGA	0.478													12	36					1.5842e-08	1.65642e-08	1	1	0	T	38289356	G	T	38289356	3	4	22	1	0	0	0	0	1	0	0	0	9926	1000	35	2	779	2	MSL1	17	38289356	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6721	38289356	42905854	16672	18818											
WIPF2	147179	broad.mit.edu	37	chr17	38412732	38412732	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccaattcctcctcccccGccacccccacctggtcctcc	4	24	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38412732G>A	ENST00000323571.4	+	2	261	c.21G>A	c.(19-21)ccG>ccA	p.P7P	WIPF2_ENST00000536600.1_Silent_p.P7P|WIPF2_ENST00000494757.1_Intron|WIPF2_ENST00000585043.1_Silent_p.P7P|WIPF2_ENST00000394103.3_Silent_p.P7P|WIPF2_ENST00000583130.1_Silent_p.P7P	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	7	Poly-Pro.					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						CTCCTCCCCCGCCACCCCCAC	0.488										HNSCC(43;0.11)			67	339					0	0	1	0	0	A	38412732	G	A	38412732	2	1	22	1	0	0	0	0	0	0	0	1	17428	1074	38	1		1	WIPF2	17	38412732	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123376	38412732	42782478	16673	18819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.P304L|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.P304L	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)			117	572					0	0	1	0	0	T	38421339	C	T	38421339	3	4	22	1	0	0	0	0	1	0	0	0	17428	594	21	2	925	2	WIPF2	17	38421339	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8607	38421339	42773871	16674	18820											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536600.1_Missense_Mutation_p.R89Q|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.R347Q|WIPF2_ENST00000394103.3_Missense_Mutation_p.R89Q|WIPF2_ENST00000583130.1_Missense_Mutation_p.R347Q	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)			24	375					0	0	1	0	0	A	38430111	G	A	38430111	3	1	22	1	0	0	0	0	1	0	0	0	17428	1058	37	1	1058	1	WIPF2	17	38430111	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8772	38430111	42765099	16675	18821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	312					4.2108e-06	4.33155e-06	1	1	0	T	38445693	G	T	38445693	3	4	22	1	0	0	0	0	1	0	0	0	3105	991	35	2	23	2	CDC6	17	38445693	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15582	38445693	42749517	16676	18822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	512					0	0	1	0	0	T	38610230	C	T	38610230	2	4	22	1	0	0	0	0	0	0	0	1	7625	639	23	1		1	IGFBP4	17	38610230	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	164537	38610230	42584980	16677	18823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	144					0	0	1	0	0	A	38711511	G	A	38711511	3	1	22	1	0	0	0	0	1	0	0	0	2968	1087	38	1	520	1	CCR7	17	38711511	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101281	38711511	42483699	16678	18824											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	334					0	0	1	0	0	A	38910676	G	A	38910676	2	1	22	1	0	0	0	0	0	0	0	1	8505	1048	37	1		1	KRT25	17	38910676	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	199165	38910676	42284534	16679	18825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	1026					1.15773e-35	1.38295e-35	1	1	0	A	38933853	C	A	38933853	3	1	22	1	0	0	0	0	1	0	0	0	8507	796	28	2	287	2	KRT27	17	38933853	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23177	38933853	42261357	16680	18826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	51					0	0	1	0	0	A	38949454	G	A	38949454	3	1	22	1	0	0	0	0	1	0	0	0	8508	1174	41	2	197	2	KRT28	17	38949454	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15601	38949454	42245756	16681	18827											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	130					0	0	1	0	0	T	39019556	C	T	39019556	3	4	22	1	0	0	0	0	1	0	0	0	8492	884	31	1	361	1	KRT12	17	39019556	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70102	39019556	42175654	16682	18828											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													150	630					0	0	1	0	0	A	39022953	T	A	39022953	3	1	22	1	0	0	0	0	1	0	0	0	8492	1838	64	5	1030	5	KRT12	17	39022953	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3397	39022953	42172257	16683	18829											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	357					0	0	1	0	0	T	39038846	C	T	39038846	3	4	22	1	0	0	0	0	1	0	0	0	8501	739	26	2	851	2	KRT20	17	39038846	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15893	39038846	42156364	16684	18830											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	944					0	0	1	0	0	T	39122912	C	T	39122912	3	4	22	1	0	0	0	0	1	0	0	0	8519	478	17	2	1306	2	KRT39	17	39122912	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84066	39122912	42072298	16685	18831											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	289					0	0	1	0	0	A	39305727	G	A	39305727	3	1	22	1	0	0	0	0	1	0	0	0	8597	1232	43	2	256	2	KRTAP4-5	17	39305727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	182815	39305727	41889483	16686	18832											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	264					1.1362e-29	1.32843e-29	1	1	0	A	39305864	C	A	39305864	3	1	22	1	0	0	0	0	1	0	0	0	8597	796	28	2	393	2	KRTAP4-5	17	39305864	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137	39305864	41889346	16687	18833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	539					0	0	1	0	0	T	39411913	C	T	39411913	2	4	22	1	0	0	0	0	0	0	0	1	8616	726	26	2		2	KRTAP9-9	17	39411913	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106049	39411913	41783297	16688	18834											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	72					0	0	1	0	0	T	39471738	C	T	39471738	2	4	22	1	0	0	0	0	0	0	0	1	8570	523	19	1		1	KRTAP17-1	17	39471738	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59825	39471738	41723472	16689	18835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	286					0	0	1	0	0	T	39503321	C	T	39503321	3	4	22	1	0	0	0	0	1	0	0	0	8512	768	27	1	488	1	KRT33A	17	39503321	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31583	39503321	41691889	16690	18836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	522					0	0	1	0	0	T	39538384	C	T	39538384	3	4	22	1	0	0	0	0	1	0	0	0	8514	768	27	1	1097	1	KRT34	17	39538384	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35063	39538384	41656826	16691	18837											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	388					0	0	1	0	0	T	39538461	C	T	39538461	3	4	22	1	0	0	0	0	1	0	0	0	8514	768	27	1	1174	1	KRT34	17	39538461	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77	39538461	41656749	16692	18838											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	211					0	0	1	0	0	T	39551317	C	T	39551317	3	4	22	1	0	0	0	0	1	0	0	0	8510	913	32	2	378	2	KRT31	17	39551317	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12856	39551317	41643893	16693	18839											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													119	504					0	0	1	0	0	A	39595014	G	A	39595014	3	1	22	1	0	0	0	0	1	0	0	0	8518	1086	38	1	557	1	KRT38	17	39595014	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43697	39595014	41600196	16694	18840											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_705694.2	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													22	1723					0	0	1	0	0	T	39659314	C	T	39659314	3	4	22	1	0	0	0	0	1	0	0	0	8493	507	18	2	624	2	KRT13	17	39659314	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64300	39659314	41535896	16695	18841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002266.2	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													71	314					0	0	1	0	0	T	39671904	C	T	39671904	3	4	22	1	0	0	0	0	1	0	0	0	8495	768	27	1	315	1	KRT15	17	39671904	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12590	39671904	41523306	16696	18842											
KRT15	3866	broad.mit.edu	37	chr17	39674821	39674821	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagccaccaccaaaaccccCaccaacgccccctccaaagc	3	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39674821C>A	ENST00000254043.3	-	1	3844	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W	KRT15_ENST00000393974.3_5'UTR|KRT15_ENST00000393976.2_Missense_Mutation_p.G87W	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	87	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)				ccaaaacccccaccaacgccc	0.577													153	526					3.14265e-60	3.95137e-60	1	1	0	A	39674821	C	A	39674821	3	1	22	1	0	0	0	0	1	0	0	0	8495	594	21	2	1143	2	KRT15	17	39674821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2917	39674821	41520389	16697	18843											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002266.2	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													17	694					0	0	1	0	0	T	39675024	C	T	39675024	3	4	22	1	0	0	0	0	1	0	0	0	8495	884	31	1	1346	1	KRT15	17	39675024	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	203	39675024	41520186	16698	18844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	591					0	0	1	0	0	A	39684192	G	A	39684192	3	1	22	1	0	0	0	0	1	0	0	0	8499	1087	38	1	918	1	KRT19	17	39684192	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9168	39684192	41511018	16699	18845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	355					0	0	1	0	0	T	39767452	C	T	39767452	3	4	22	1	0	0	0	0	1	0	0	0	8496	661	23	1	639	1	KRT16	17	39767452	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83260	39767452	41427758	16700	18846											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	90					0	0	1	0	0	A	39768755	G	A	39768755	2	1	22	1	0	0	0	0	0	0	0	1	8496	1079	38	1		1	KRT16	17	39768755	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1303	39768755	41426455	16701	18847											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	327					2.1459e-41	2.60651e-41	1	1	0	A	39777096	C	A	39777096	3	1	22	1	0	0	0	0	1	0	0	0	8016	912	32	2		2	JUP	17	39777096	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8341	39777096	41418114	16702	18848											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	531					1.22574e-08	1.28258e-08	1	1	0	A	39777943	C	A	39777943	3	1	22	1	0	0	0	0	1	0	0	0	8016	681	24	2		2	JUP	17	39777943	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	847	39777943	41417267	16703	18849											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	401					9.15355e-43	1.11544e-42	1	1	0	T	39872089	G	T	39872089	3	4	22	1	0	0	0	0	1	0	0	0	6292	1174	41	2	277	2	GAST	17	39872089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94146	39872089	41323121	16704	18850											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000347901.4_Missense_Mutation_p.A522D|HAP1_ENST00000341193.5_Missense_Mutation_p.A505D|HAP1_ENST00000310778.5_Missense_Mutation_p.A574D|JUP_ENST00000540235.1_Intron			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													95	1951					2.77807e-22	3.14147e-22	1	1	0	T	39881248	G	T	39881248	3	4	22	1	0	0	0	0	1	0	0	0	6994	971	34	2	298	2	HAP1	17	39881248	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9159	39881248	41313962	16705	18851											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000310706.5_Missense_Mutation_p.R444C|JUP_ENST00000540235.1_Intron|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													58	262					0	0	1	0	0	A	39919402	G	A	39919402	3	1	22	1	0	0	0	0	1	0	0	0	8016	1087	38	1	935	1	JUP	17	39919402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38154	39919402	41275808	16706	18852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	336					4.46356e-37	5.35602e-37	1	1	0	T	39977920	G	T	39977920	3	4	22	1	0	0	0	0	1	0	0	0	5935	1000	35	2	1448	2	FKBP10	17	39977920	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58518	39977920	41217290	16707	18853											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	138					4.36969e-10	4.6211e-10	1	1	0	A	39978520	C	A	39978520	3	1	22	1	0	0	0	0	1	0	0	0	5935	681	24	2	1647	2	FKBP10	17	39978520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	600	39978520	41216690	16708	18854											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	416					0	0	1	0	0	A	39994291	G	A	39994291	3	1	22	1	0	0	0	0	1	0	0	0	8409	1203	42	2	109	2	KLHL10	17	39994291	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15771	39994291	41200919	16709	18855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	352					0	0	1	0	0	C	39998189	T	C	39998189	2	2	22	1	0	0	0	0	0	0	0	1	8409	1509	53	3		3	KLHL10	17	39998189	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3898	39998189	41197021	16710	18856											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	275					0	0	1	0	0	T	39998252	C	T	39998252	2	4	22	1	0	0	0	0	0	0	0	1	8409	874	31	1		1	KLHL10	17	39998252	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63	39998252	41196958	16711	18857											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	198					0	0	1	0	0	A	40001975	G	A	40001975	3	1	22	1	0	0	0	0	1	0	0	0	8409	1087	38	1	1292	1	KLHL10	17	40001975	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3723	40001975	41193235	16712	18858											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	375					0	0	1	0	0	C	40010534	T	C	40010534	3	2	22	1	0	0	0	0	1	0	0	0	8410	1638	57	3	545	3	KLHL11	17	40010534	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8559	40010534	41184676	16713	18859											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	504					0	0	1	0	0	A	40011445	G	A	40011445	3	1	22	1	0	0	0	0	1	0	0	0	8410	971	34	2	1456	2	KLHL11	17	40011445	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	911	40011445	41183765	16714	18860											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590151.1_Silent_p.I740I|ACLY_ENST00000353196.1_Silent_p.I730I	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													8	464					0	0	1	0	0	A	40039420	G	A	40039420	2	1	22	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	16715	18861											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590151.1_Missense_Mutation_p.R703H|ACLY_ENST00000353196.1_Missense_Mutation_p.R693H	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													42	164					0	0	1	0	0	T	40040492	C	T	40040492	3	4	22	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	16716	18862											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590151.1_Missense_Mutation_p.R576H|ACLY_ENST00000353196.1_Missense_Mutation_p.R566H	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													41	229					0	0	1	0	0	T	40048575	C	T	40048575	3	4	22	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	16717	18863											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590151.1_Silent_p.V286V|ACLY_ENST00000353196.1_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													96	452					0	0	1	0	0	A	40062789	G	A	40062789	2	1	22	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	16718	18864											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	51					0	0	1	0	0	A	40117142	G	A	40117142	1	1	22	0	1	0	0	0	0	0	0	0	16755	1203	42	2		2	TTC25	17	40117142	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54353	40117142	41078068	16719	18865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40120260G>A	ENST00000393892.2	+	2	322	c.178G>A	c.(178-180)Gga>Aga	p.G60R	CNP_ENST00000393888.1_Missense_Mutation_p.G40R|CNP_ENST00000472031.1_Intron|CNP_ENST00000592446.1_3'UTR|CNP_ENST00000591072.1_Intron	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	60					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													26	181					0	0	1	0	0	A	40120260	G	A	40120260	3	1	22	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	16720	18866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40125661G>A	ENST00000393892.2	+	4	1129	c.985G>A	c.(985-987)Gcc>Acc	p.A329T	CNP_ENST00000393888.1_Missense_Mutation_p.A309T|CNP_ENST00000472031.1_3'UTR|CNP_ENST00000591072.1_Missense_Mutation_p.A94T	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	329					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													81	362					0	0	1	0	0	A	40125661	G	A	40125661	3	1	22	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	16721	18867											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	111					0	0	1	0	0	T	40257177	C	T	40257177	2	4	22	1	0	0	0	0	0	0	0	1	4542	796	28	2		2	DHX58	17	40257177	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131516	40257177	40938033	16722	18868											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	641					3.86212e-05	3.93988e-05	1	1	0	T	40257933	G	T	40257933	3	4	22	1	0	0	0	0	1	0	0	0	4542	991	35	2	988	2	DHX58	17	40257933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	756	40257933	40937277	16723	18869											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	91					0	0	1	0	0	A	40259626	G	A	40259626	2	1	22	1	0	0	0	0	0	0	0	1	4542	1049	37	1		1	DHX58	17	40259626	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1693	40259626	40935584	16724	18870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	107					0	0	1	0	0	T	40259654	C	T	40259654	3	4	22	1	0	0	0	0	1	0	0	0	4542	478	17	2	1099	2	DHX58	17	40259654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28	40259654	40935556	16725	18871											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40266508G>A	ENST00000225916.5	-	14	2187	c.2134_splice	c.e14+1	p.R712_splice		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													153	1102					0	0	1	0	0	A	40266508	G	A	40266508	5	1	22	1	0	0	0	0	0	0	1	0	8025	1072	37	1	399	1	KAT2A	17	40266508	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6854	40266508	40928702	16726	18872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	582					0	0	1	0	0	A	40267794	G	A	40267794	3	1	22	1	0	0	0	0	1	0	0	0	8025	942	33	2	719	2	KAT2A	17	40267794	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1286	40267794	40927416	16727	18873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	494					2.73867e-56	3.42633e-56	1	1	0	A	40271425	C	A	40271425	3	1	22	1	0	0	0	0	1	0	0	0	8025	797	28	2	1654	2	KAT2A	17	40271425	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3631	40271425	40923785	16728	18874											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	238					5.18039e-06	5.32547e-06	1	1	0	A	40312104	C	A	40312104	3	1	22	1	0	0	0	0	1	0	0	0	8078	797	28	2	49	2	KCNH4	17	40312104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40679	40312104	40883106	16729	18875											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	264					0	0	1	0	0	G	40317623	A	G	40317623	2	3	22	1	0	0	0	0	0	0	0	1	8078	156	6	3		3	KCNH4	17	40317623	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5519	40317623	40877587	16730	18876											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	71					0.0477658	0.0478703	1	1	0	T	40318319	G	T	40318319	2	4	22	1	0	0	0	0	0	0	0	1	8078	1164	41	2		2	KCNH4	17	40318319	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	696	40318319	40876891	16731	18877											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	168					0	0	1	0	0	T	40318398	C	T	40318398	3	4	22	1	0	0	0	0	1	0	0	0	8078	536	19	1	1324	1	KCNH4	17	40318398	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79	40318398	40876812	16732	18878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	230					0.00829132	0.00834067	1	1	0	T	40318495	G	T	40318495	3	4	22	1	0	0	0	0	1	0	0	0	8078	962	34	2	1421	2	KCNH4	17	40318495	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97	40318495	40876715	16733	18879											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	320					0	0	1	0	0	C	40321559	T	C	40321559	3	2	22	1	0	0	0	0	1	0	0	0	8078	1609	56	3	1559	3	KCNH4	17	40321559	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3064	40321559	40873651	16734	18880											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	121					0	0	1	0	0	C	40330471	T	C	40330471	3	2	22	1	0	0	0	0	1	0	0	0	8078	1667	58	3	2774	3	KCNH4	17	40330471	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8912	40330471	40864739	16735	18881											
GHDC	84514	broad.mit.edu	37	chr17	40344543	40344543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccagaagttcgacagccGtcccagcctccagtgccctc	8	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40344543G>A	ENST00000301671.8	-	4	1046	c.605C>T	c.(604-606)aCg>aTg	p.T202M	GHDC_ENST00000593209.1_Missense_Mutation_p.T202M|GHDC_ENST00000587427.1_Missense_Mutation_p.T202M|GHDC_ENST00000428494.2_Missense_Mutation_p.T163M|GHDC_ENST00000414034.3_Missense_Mutation_p.T202M|GHDC_ENST00000436923.2_Missense_Mutation_p.T202M			Q8N2G8	GHDC_HUMAN	GH3 domain containing	202						endoplasmic reticulum|nuclear envelope		p.T202M(1)		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)		TTCGACAGCCGTCCCAGCCTC	0.637													16	923					0	0	1	0	0	A	40344543	G	A	40344543	3	1	22	1	0	0	0	0	1	0	0	0	6411	1145	40	1	1100	1	GHDC	17	40344543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14072	40344543	40850667	16736	18882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000587427.1_Missense_Mutation_p.Q121K|GHDC_ENST00000428494.2_Intron|GHDC_ENST00000414034.3_Missense_Mutation_p.Q121K|GHDC_ENST00000436923.2_Missense_Mutation_p.Q121K			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													143	554					1.25626e-67	1.59178e-67	1	1	0	T	40344950	G	T	40344950	3	4	22	1	0	0	0	0	1	0	0	0	6411	1357	47	2	1348	2	GHDC	17	40344950	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	407	40344950	40850260	16737	18883											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588868.1_Missense_Mutation_p.R294C|STAT5A_ENST00000452307.2_Missense_Mutation_p.R294C|STAT5A_ENST00000546010.2_Missense_Mutation_p.R264C|STAT5A_ENST00000590949.1_Missense_Mutation_p.R294C	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													35	195					0	0	1	0	0	T	40452779	C	T	40452779	3	4	22	1	0	0	0	0	1	0	0	0	15324	652	23	1	906	1	STAT5A	17	40452779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107829	40452779	40742431	16738	18884											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585517.1_Intron|STAT3_ENST00000404395.3_Missense_Mutation_p.S718N|STAT3_ENST00000389272.3_Missense_Mutation_p.S621N|STAT3_ENST00000588969.1_Missense_Mutation_p.S719N	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				72	206					0	0	1	0	0	T	40468908	C	T	40468908	3	4	22	1	0	0	0	0	1	0	0	0	15322	797	28	2	164	2	STAT3	17	40468908	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16129	40468908	40726302	16739	18885											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	354					0	0	1	0	0	A	40557079	G	A	40557079	3	1	22	1	0	0	0	0	1	0	0	0	12867	1086	38	1	377	1	PTRF	17	40557079	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88171	40557079	40638131	16740	18886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													257	995					0	0	1	0	0	A	40557266	G	A	40557266	2	1	22	1	0	0	0	0	0	0	0	1	12867	1136	40	1		1	PTRF	17	40557266	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	187	40557266	40637944	16741	18887											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264649.6_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000393829.2_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													53	233					0	0	1	0	0	G	40620067	T	G	40620067	3	3	22	1	0	0	0	0	1	0	0	0	1166	1493	52	3	246	3	ATP6V0A1	17	40620067	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	62801	40620067	40575143	16742	18888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264649.6_Missense_Mutation_p.G420D|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.G370D|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.G413D|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.G59D|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.G370D|ATP6V0A1_ENST00000393829.2_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													74	313					0	0	1	0	0	A	40646415	G	A	40646415	3	1	22	1	0	0	0	0	1	0	0	0	1166	1203	42	2	1301	2	ATP6V0A1	17	40646415	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26348	40646415	40548795	16743	18889											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264649.6_Intron|ATP6V0A1_ENST00000585525.1_Silent_p.D665D|ATP6V0A1_ENST00000546249.1_Intron|ATP6V0A1_ENST00000544137.1_Silent_p.D354D|ATP6V0A1_ENST00000537728.1_Intron|ATP6V0A1_ENST00000393829.2_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													61	296					0	0	1	0	0	T	40660601	C	T	40660601	2	4	22	1	0	0	0	0	0	0	0	1	1166	535	19	1		1	ATP6V0A1	17	40660601	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14186	40660601	40534609	16744	18890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	183					6.31663e-08	6.57865e-08	1	1	0	A	40695695	C	A	40695695	2	1	22	1	0	0	0	0	0	0	0	1	10191	784	28	2		2	NAGLU	17	40695695	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35094	40695695	40499515	16745	18891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	71					0	0	1	0	0	T	40695928	C	T	40695928	3	4	22	1	0	0	0	0	1	0	0	0	10191	739	26	2	1926	2	NAGLU	17	40695928	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	233	40695928	40499282	16746	18892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	97					6.02846e-25	6.90604e-25	1	1	0	T	40696083	G	T	40696083	3	4	22	1	0	0	0	0	1	0	0	0	10191	1203	42	2	2081	2	NAGLU	17	40696083	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155	40696083	40499127	16747	18893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-400F19.6_ENST00000590513.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.H223Y|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													5	191					0	0	1	0	0	T	40706547	C	T	40706547	3	4	22	1	0	0	0	0	1	0	0	0	7419	594	21	2	682	2	HSD17B1	17	40706547	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10464	40706547	40488663	16748	18894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420359.1_5'UTR|COASY_ENST00000449624.1_Intron|COASY_ENST00000393818.2_5'UTR|COASY_ENST00000421097.2_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													67	247					0	0	1	0	0	T	40714637	C	T	40714637	2	4	22	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	16749	18895											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	357					0	0	1	0	0	T	40766320	C	T	40766320	3	4	22	1	0	0	0	0	1	0	0	0	16826	759	27	1	920	1	TUBG1	17	40766320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51683	40766320	40428890	16750	18896											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000412503.1_Missense_Mutation_p.A379V|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.A379V|PLEKHH3_ENST00000456950.2_5'UTR			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													7	158					0	0	1	0	0	A	40823517	G	A	40823517	3	1	22	1	0	0	0	0	1	0	0	0	12126	1087	38	1	1269	1	PLEKHH3	17	40823517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57197	40823517	40371693	16751	18897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	92					2.39187e-15	2.61288e-15	1	1	0	A	40831869	C	A	40831869	3	1	22	1	0	0	0	0	1	0	0	0	2962	797	28	2	301	2	CCR10	17	40831869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8352	40831869	40363341	16752	18898											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	323					0	0	1	0	0	A	40837321	G	A	40837321	3	1	22	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	16753	18899											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	196					5.9392e-07	6.14895e-07	1	1	0	A	40926673	C	A	40926673	3	1	22	1	0	0	0	0	1	0	0	0	17256	681	24	2	219	2	VPS25	17	40926673	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89352	40926673	40268537	16754	18900											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	162					0	0	1	0	0	A	40936549	G	A	40936549	2	1	22	1	0	0	0	0	0	0	0	1	17440	1132	40	1		1	WNK4	17	40936549	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9876	40936549	40258661	16755	18901											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	214					0	0	1	0	0	C	40939316	T	C	40939316	2	2	22	1	0	0	0	0	0	0	0	1	17440	1702	59	3		3	WNK4	17	40939316	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2767	40939316	40255894	16756	18902											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	233					5.20837e-25	5.9682e-25	1	1	0	A	40940387	C	A	40940387	3	1	22	1	0	0	0	0	1	0	0	0	17440	913	32	2	2040	2	WNK4	17	40940387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1071	40940387	40254823	16757	18903											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	329					0	0	1	0	0	T	40947651	C	T	40947651	3	4	22	1	0	0	0	0	1	0	0	0	17440	739	26	2	3093	2	WNK4	17	40947651	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7264	40947651	40247559	16758	18904											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	226					3.86236e-30	4.52529e-30	1	1	0	T	40951182	G	T	40951182	3	4	22	1	0	0	0	0	1	0	0	0	3658	1203	42	2	99	2	CNTD1	17	40951182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3531	40951182	40244028	16759	18905											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588527.1_Missense_Mutation_p.S155N|CNTD1_ENST00000315066.5_3'UTR	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													49	214					0	0	1	0	0	A	40958824	G	A	40958824	3	1	22	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	16760	18906											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	297					0	0	1	0	0	A	40997013	G	A	40997013	3	1	22	1	0	0	0	0	1	0	0	0	723	1145	40	1	372	1	AOC2	17	40997013	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38189	40997013	40198197	16761	18907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	301					0	0	1	0	0	A	41004414	G	A	41004414	3	1	22	1	0	0	0	0	1	0	0	0	724	1145	40	1	1056	1	AOC3	17	41004414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7401	41004414	40190796	16762	18908											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	193					0	0	1	0	0	A	41004951	G	A	41004951	3	1	22	1	0	0	0	0	1	0	0	0	724	1174	41	2	1593	2	AOC3	17	41004951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	537	41004951	40190259	16763	18909											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_775102.2	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													7	288					0	0	1	0	0	C	41141438	T	C	41141438	2	2	22	1	0	0	0	0	0	0	0	1	13794	1654	58	3		3	RUNDC1	17	41141438	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	136487	41141438	40053772	16764	18910											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_775102.2	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													10	360					0	0	1	0	0	T	41143294	A	T	41143294	3	4	22	1	0	0	0	0	1	0	0	0	13794	304	11	5	1421	5	RUNDC1	17	41143294	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1856	41143294	40051916	16765	18911											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	225					1.62957e-23	1.85347e-23	1	1	0	T	41169881	G	T	41169881	3	4	22	1	0	0	0	0	1	0	0	0	17189	1232	43	2	360	2	VAT1	17	41169881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26587	41169881	40025329	16766	18912											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354071.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.V1590A|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.V1611A|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Missense_Mutation_p.V81A|BRCA1_ENST00000491747.2_Missense_Mutation_p.V486A|BRCA1_ENST00000468300.1_Missense_Mutation_p.V486A|BRCA1_ENST00000493795.1_Missense_Mutation_p.V1543A|BRCA1_ENST00000352993.3_Missense_Mutation_p.V448A|BRCA1_ENST00000351666.3_Missense_Mutation_p.V407A	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)			124	616					0	0	1	0	0	G	41223162	A	G	41223162	3	3	22	1	0	0	0	0	1	0	0	0	1500	43	2	3	858	3	BRCA1	17	41223162	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	53281	41223162	39972048	16767	18913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354071.3_Missense_Mutation_p.A314T|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.A314T|BRCA1_ENST00000346315.3_Missense_Mutation_p.A314T|BRCA1_ENST00000471181.2_Missense_Mutation_p.A314T|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.A267T|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000351666.3_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)			109	524					0	0	1	0	0	T	41246608	C	T	41246608	3	4	22	1	0	0	0	0	1	0	0	0	1500	797	28	2	4777	2	BRCA1	17	41246608	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23446	41246608	39948602	16768	18914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	288					0	0	1	0	0	T	41477126	C	T	41477126	3	4	22	1	0	0	0	0	1	0	0	0	937	768	27	1	28	1	ARL4D	17	41477126	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	230518	41477126	39718084	16769	18915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	74					2.21704e-12	2.37967e-12	1	1	0	T	41477547	G	T	41477547	3	4	22	1	0	0	0	0	1	0	0	0	937	933	33	2	449	2	ARL4D	17	41477547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	421	41477547	39717663	16770	18916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	463					0	0	1	0	0	T	41585306	C	T	41585306	2	4	22	1	0	0	0	0	0	0	0	1	4543	564	20	2		2	DHX8	17	41585306	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107759	41585306	39609904	16771	18917											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													160	814					2.33983e-75	2.98337e-75	1	1	0	T	41599414	G	T	41599414	5	4	22	1	0	0	0	0	0	0	1	0	4543	956	33	2	3349	2	DHX8	17	41599414	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14108	41599414	39595796	16772	18918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591713.1_Missense_Mutation_p.G325E|ETV4_ENST00000586826.1_Missense_Mutation_p.G48E|ETV4_ENST00000545089.1_Missense_Mutation_p.G271E|ETV4_ENST00000538265.1_Missense_Mutation_p.G286E|ETV4_ENST00000393664.2_Missense_Mutation_p.G325E|ETV4_ENST00000545954.1_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"								21	611					0	0	1	0	0	T	41607026	C	T	41607026	3	4	22	1	0	0	0	0	1	0	0	0	5309	623	22	2	492	2	ETV4	17	41607026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7612	41607026	39588184	16773	18919											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000329168.3_Intron|MEOX1_ENST00000549132.1_Intron|MEOX1_ENST00000393661.2_Silent_p.L95L	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													5	40					0.000602214	0.000609647	1	1	0	T	41720868	G	T	41720868	2	4	22	1	0	0	0	0	0	0	0	1	9523	929	33	2		2	MEOX1	17	41720868	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113842	41720868	39474342	16774	18920											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000329168.3_Missense_Mutation_p.S149F|MEOX1_ENST00000549132.1_Missense_Mutation_p.P120S|MEOX1_ENST00000393661.2_Missense_Mutation_p.S34F	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													223	1074					0	0	1	0	0	A	41738457	G	A	41738457	3	1	22	1	0	0	0	0	1	0	0	0	9523	1174	41	2	330	2	MEOX1	17	41738457	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17589	41738457	39456753	16775	18921											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377184.3_Missense_Mutation_p.R380W|MPP2_ENST00000520305.1_Missense_Mutation_p.R224W|MPP2_ENST00000523501.1_Missense_Mutation_p.R352W|MPP2_ENST00000461854.1_Missense_Mutation_p.R387W|MPP2_ENST00000518766.1_Missense_Mutation_p.R408W	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	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)	92	388					0	0	1	0	0	A	41958122	G	A	41958122	3	1	22	1	0	0	0	0	1	0	0	0	9783	1144	40	1	587	1	MPP2	17	41958122	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219665	41958122	39237088	16776	18922											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000587529.1_Silent_p.S125S|TMEM101_ENST00000542039.1_Silent_p.S67S			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													45	175					0	0	1	0	0	A	42090467	G	A	42090467	2	1	22	1	0	0	0	0	0	0	0	1	16076	1078	38	1		1	TMEM101	17	42090467	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132345	42090467	39104743	16777	18923											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	413					0	0	1	0	0	G	42153230	T	G	42153230	3	3	22	1	0	0	0	0	1	0	0	0	6180	1609	56	3	882	3	G6PC3	17	42153230	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	62763	42153230	39041980	16778	18924											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000336057.5_Missense_Mutation_p.P685L|HDAC5_ENST00000586802.1_Missense_Mutation_p.P770L			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													76	314					0	0	1	0	0	A	42161219	G	A	42161219	3	1	22	1	0	0	0	0	1	0	0	0	7051	1232	43	2	1103	2	HDAC5	17	42161219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7989	42161219	39033991	16779	18925											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000587172.1_Intron|TMUB2_ENST00000446571.3_Missense_Mutation_p.S113N|TMUB2_ENST00000538716.2_Missense_Mutation_p.S170N|TMUB2_ENST00000357984.3_Missense_Mutation_p.S150N|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000589856.1_Missense_Mutation_p.S150N|TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000589785.1_Missense_Mutation_p.S150N|TMUB2_ENST00000587989.1_Missense_Mutation_p.S170N	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													41	314					0	0	1	0	0	A	42266863	G	A	42266863	3	1	22	1	0	0	0	0	1	0	0	0	16325	971	34	2	515	2	TMUB2	17	42266863	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105644	42266863	38928347	16780	18926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000593073.1_Intron|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.S176P	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													54	300					0	0	1	0	0	G	42273420	A	G	42273420	3	3	22	1	0	0	0	0	1	0	0	0	1216	275	10	3	566	3	ATXN7L3	17	42273420	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6557	42273420	38921790	16781	18927											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000593073.1_Intron|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.R172Q	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													73	307					0	0	1	0	0	T	42273431	C	T	42273431	3	4	22	1	0	0	0	0	1	0	0	0	1216	884	31	1	577	1	ATXN7L3	17	42273431	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11	42273431	38921779	16782	18928											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393606.3_Missense_Mutation_p.Q457H|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Missense_Mutation_p.Q494H|UBTF_ENST00000436088.1_Missense_Mutation_p.Q494H|UBTF_ENST00000527034.1_Missense_Mutation_p.Q457H|UBTF_ENST00000533177.1_Missense_Mutation_p.Q457H|UBTF_ENST00000526094.1_Missense_Mutation_p.Q457H|UBTF_ENST00000343638.5_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)	13	550					0.000308642	0.000312942	1	1	0	A	42287719	C	A	42287719	3	1	22	1	0	0	0	0	1	0	0	0	16970	912	32	2	844	2	UBTF	17	42287719	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14288	42287719	38907491	16783	18929											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393606.3_Missense_Mutation_p.D10N|UBTF_ENST00000529383.1_Missense_Mutation_p.D10N|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000436088.1_Missense_Mutation_p.D10N|UBTF_ENST00000527034.1_Missense_Mutation_p.D10N|UBTF_ENST00000533177.1_Missense_Mutation_p.D10N|UBTF_ENST00000526094.1_Missense_Mutation_p.D10N|UBTF_ENST00000343638.5_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)	100	524					0	0	1	0	0	T	42295570	C	T	42295570	3	4	22	1	0	0	0	0	1	0	0	0	16970	913	32	2	2346	2	UBTF	17	42295570	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7851	42295570	38899640	16784	18930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377095.5_Missense_Mutation_p.L199M|SLC25A39_ENST00000537904.2_Missense_Mutation_p.L176M|SLC25A39_ENST00000586016.1_Missense_Mutation_p.L67M	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													15	183					2.32078e-09	2.442e-09	1	1	0	T	42398522	G	T	42398522	3	4	22	1	0	0	0	0	1	0	0	0	14558	962	34	2	504	2	SLC25A39	17	42398522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102952	42398522	38796688	16785	18931											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377095.5_Missense_Mutation_p.V194M|SLC25A39_ENST00000537904.2_Missense_Mutation_p.V171M|SLC25A39_ENST00000586016.1_Missense_Mutation_p.V62M	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													17	194					0	0	1	0	0	T	42398537	C	T	42398537	3	4	22	1	0	0	0	0	1	0	0	0	14558	478	17	2	519	2	SLC25A39	17	42398537	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	42398537	38796673	16786	18932											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	291					9.77497e-20	1.09193e-19	1	1	0	T	42429421	G	T	42429421	3	4	22	1	0	0	0	0	1	0	0	0	6845	991	35	2	1256	2	GRN	17	42429421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30884	42429421	38765789	16787	18933											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	335					0	0	1	0	0	C	42429451	T	C	42429451	2	2	22	1	0	0	0	0	0	0	0	1	6845	1673	58	3		3	GRN	17	42429451	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30	42429451	38765759	16788	18934											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	532					0	0	1	0	0	A	42476826	G	A	42476826	2	1	22	1	0	0	0	0	0	0	0	1	6634	962	34	2		2	GPATCH8	17	42476826	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47375	42476826	38718384	16789	18935											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	301					0	0	1	0	0	A	42635747	G	A	42635747	3	1	22	1	0	0	0	0	1	0	0	0	6165	1058	37	1	693	1	FZD2	17	42635747	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158921	42635747	38559463	16790	18936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	177					0.00116845	0.00118049	1	1	0	T	42636670	G	T	42636670	3	4	22	1	0	0	0	0	1	0	0	0	6165	1183	41	2	1616	2	FZD2	17	42636670	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	923	42636670	38558540	16791	18937											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526915.1_3'UTR|DBF4B_ENST00000398338.3_Missense_Mutation_p.L57M|DBF4B_ENST00000393547.2_Missense_Mutation_p.L57M	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													72	317					1.356e-25	1.55723e-25	1	1	0	A	42800334	C	A	42800334	3	1	22	1	0	0	0	0	1	0	0	0	4273	912	32	2	179	2	DBF4B	17	42800334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163664	42800334	38394876	16792	18938											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	211					0	0	1	0	0	T	42824842	C	T	42824842	2	4	22	1	0	0	0	0	0	0	0	1	4273	738	26	2		2	DBF4B	17	42824842	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24508	42824842	38370368	16793	18939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	562					3.42828e-54	4.27804e-54	1	1	0	A	42828513	C	A	42828513	2	1	22	1	0	0	0	0	0	0	0	1	4273	668	24	2		2	DBF4B	17	42828513	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3671	42828513	38366697	16794	18940											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000592524.1_Missense_Mutation_p.A183S|GJC1_ENST00000330514.4_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													147	831					2.66858e-58	3.34646e-58	1	1	0	A	42882639	C	A	42882639	3	1	22	1	0	0	0	0	1	0	0	0	6456	739	26	2	647	2	GJC1	17	42882639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54126	42882639	38312571	16795	18941											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000592576.1_Missense_Mutation_p.F708L|EFTUD2_ENST00000591382.1_Missense_Mutation_p.F718L|EFTUD2_ENST00000402521.3_Missense_Mutation_p.F683L	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													45	294					0	0	1	0	0	G	42932031	A	G	42932031	3	3	22	1	0	0	0	0	1	0	0	0	4987	72	3	3	794	3	EFTUD2	17	42932031	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49392	42932031	38263179	16796	18942											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000592576.1_Missense_Mutation_p.A264D|EFTUD2_ENST00000591382.1_Missense_Mutation_p.A274D|EFTUD2_ENST00000402521.3_Missense_Mutation_p.A239D	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													191	905					7.03087e-97	9.03877e-97	1	1	0	T	42953350	G	T	42953350	3	4	22	1	0	0	0	0	1	0	0	0	4987	971	34	2	2173	2	EFTUD2	17	42953350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21319	42953350	38241860	16797	18943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000592576.1_Missense_Mutation_p.I171T|EFTUD2_ENST00000591382.1_Missense_Mutation_p.I181T|EFTUD2_ENST00000402521.3_Missense_Mutation_p.I146T	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													70	259					0	0	1	0	0	G	42957999	A	G	42957999	3	3	22	1	0	0	0	0	1	0	0	0	4987	333	12	3	2460	3	EFTUD2	17	42957999	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4649	42957999	38237211	16798	18944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000592576.1_Missense_Mutation_p.D2Y|EFTUD2_ENST00000591382.1_Missense_Mutation_p.D2Y|EFTUD2_ENST00000402521.3_Intron	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													18	562					1.67942e-08	1.75525e-08	1	1	0	A	42971886	C	A	42971886	3	1	22	1	0	0	0	0	1	0	0	0	4987	855	30	2	3022	2	EFTUD2	17	42971886	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13887	42971886	38223324	16799	18945											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	686					3.76114e-14	4.07806e-14	1	1	0	T	42985496	G	T	42985496	3	4	22	1	0	0	0	0	1	0	0	0	6379	942	33	2	113	2	GFAP	17	42985496	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13610	42985496	38209714	16800	18946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000586793.1_Missense_Mutation_p.E223K|GFAP_ENST00000435360.2_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													76	299					0	0	1	0	0	T	42990750	C	T	42990750	3	4	22	1	0	0	0	0	1	0	0	0	6379	864	30	2	784	2	GFAP	17	42990750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5254	42990750	38204460	16801	18947											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron	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													21	145					0	0	1	0	0	T	42992761	C	T	42992761	3	4	22	1	0	0	0	0	1	0	0	0	6379	623	22	2	1369	2	GFAP	17	42992761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2011	42992761	38202449	16802	18948											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000593135.1_Missense_Mutation_p.V689I|KIF18B_ENST00000590129.1_Missense_Mutation_p.V710I|KIF18B_ENST00000438933.2_Missense_Mutation_p.V701I|KIF18B_ENST00000339151.4_Missense_Mutation_p.V692I	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													6	170					0	0	1	0	0	T	43005605	C	T	43005605	3	4	22	1	0	0	0	0	1	0	0	0	8323	536	19	1	508	1	KIF18B	17	43005605	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12844	43005605	38189605	16803	18949											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000593135.1_Missense_Mutation_p.G56D|KIF18B_ENST00000590129.1_Missense_Mutation_p.G65D|KIF18B_ENST00000438933.2_Missense_Mutation_p.G56D|KIF18B_ENST00000339151.4_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													25	98					0	0	1	0	0	T	43013546	C	T	43013546	3	4	22	1	0	0	0	0	1	0	0	0	8323	739	26	2	2459	2	KIF18B	17	43013546	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7941	43013546	38181664	16804	18950											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000593135.1_5'UTR|KIF18B_ENST00000587309.1_5'UTR|KIF18B_ENST00000438933.2_5'UTR|KIF18B_ENST00000339151.4_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													11	36					1.58986e-06	1.64048e-06	1	1	0	A	43013726	C	A	43013726	3	1	22	1	0	0	0	0	1	0	0	0	8323	521	18	2		2	KIF18B	17	43013726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180	43013726	38181484	16805	18951											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													265	1100					0	0	1	0	0	T	43181223	C	T	43181223	2	4	22	1	0	0	0	0	0	0	0	1	10550	535	19	1		1	NMT1	17	43181223	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167497	43181223	38013987	16806	18952											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	367					1.64573e-32	1.94376e-32	1	1	0	T	43227267	G	T	43227267	3	4	22	1	0	0	0	0	1	0	0	0	7117	971	34	2	712	2	HEXIM1	17	43227267	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46044	43227267	37967943	16807	18953											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Missense_Mutation_p.E138G	NM_005892.3	NP_005883.2	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													46	257					0	0	1	0	0	G	43311026	A	G	43311026	3	3	22	1	0	0	0	0	1	0	0	0	5984	304	11	3	431	3	FMNL1	17	43311026	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	83759	43311026	37884184	16808	18954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43342620G>A	ENST00000344686.2	-	0	2694				MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000588160.1_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													64	353					0	0	1	0	0	A	43342620	G	A	43342620	1	1	22	0	1	0	0	0	0	0	0	0	9298	1161	41	2		2	MAP3K14	17	43342620	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31594	43342620	37852590	16809	18955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	214					0	0	1	0	0	T	43364233	C	T	43364233	1	4	22	0	1	0	0	0	0	0	0	0	9298	478	17	2		2	MAP3K14	17	43364233	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21613	43364233	37830977	16810	18956											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528384.1_Silent_p.D33D|ARHGAP27_ENST00000532891.2_Silent_p.D374D|ARHGAP27_ENST00000428638.1_Silent_p.D374D|ARHGAP27_ENST00000376922.2_Silent_p.D33D|ARHGAP27_ENST00000455881.1_Silent_p.D33D|ARHGAP27_ENST00000442348.1_Silent_p.D374D			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													55	222					0	0	1	0	0	A	43482416	G	A	43482416	2	1	22	1	0	0	0	0	0	0	0	1	873	1020	36	2		2	ARHGAP27	17	43482416	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118183	43482416	37712794	16811	18957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528273.1_Missense_Mutation_p.A3E|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.A3E|ARHGAP27_ENST00000290470.3_Missense_Mutation_p.A3E|ARHGAP27_ENST00000442348.1_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													12	48					2.31682e-05	2.36778e-05	1	1	0	T	43507638	G	T	43507638	3	4	22	1	0	0	0	0	1	0	0	0	873	1087	38	4		4	ARHGAP27	17	43507638	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25222	43507638	37687572	16812	18958											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	406					0	0	1	0	0	A	43531235	G	A	43531235	2	1	22	1	0	0	0	0	0	0	0	1	12128	929	33	2		2	PLEKHM1	17	43531235	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23597	43531235	37663975	16813	18959											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446361.3_Intron|MAPT_ENST00000535772.1_Missense_Mutation_p.A91V|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000576518.1_5'UTR|MAPT_ENST00000431008.3_Missense_Mutation_p.A91V|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.A91V|MAPT_ENST00000351559.5_Missense_Mutation_p.A91V|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.A91V|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.A91V|MAPT_ENST00000574436.1_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													13	75					0	0	1	0	0	T	44051802	C	T	44051802	3	4	22	1	0	0	0	0	1	0	0	0	9347	768	27	1	282	1	MAPT	17	44051802	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	520567	44051802	37143408	16814	18960											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446361.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000571987.1_Silent_p.S227S|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000262410.5_Silent_p.S227S|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Silent_p.S227S|MAPT_ENST00000574436.1_Intron	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													22	127					1.22574e-08	1.28258e-08	1	1	0	A	44060851	C	A	44060851	2	1	22	1	0	0	0	0	0	0	0	1	9347	668	24	2		2	MAPT	17	44060851	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9049	44060851	37134359	16815	18961											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446361.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000574436.1_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													36	117					0	0	1	0	0	A	44076881	G	A	44076881	3	1	22	1	0	0	0	0	1	0	0	0	15337	971	34	2	238	2	STH	17	44076881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16030	44076881	37118329	16816	18962											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													148	572					0	0	1	0	0	T	44845788	C	T	44845788	2	4	22	1	0	0	0	0	0	0	0	1	17448	854	30	2		2	WNT3	17	44845788	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	768907	44845788	36349422	16817	18963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000572316.1_Silent_p.R156R|MYL4_ENST00000393450.1_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													6	280					0	0	1	0	0	A	45299202	G	A	45299202	2	1	22	1	0	0	0	0	0	0	0	1	10097	1190	42	2		2	MYL4	17	45299202	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	453414	45299202	35896008	16818	18964											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000571680.1_Missense_Mutation_p.R63H|ITGB3_ENST00000435993.2_Missense_Mutation_p.R16H|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													45	196					0	0	1	0	0	A	45360742	G	A	45360742	3	1	22	1	0	0	0	0	1	0	0	0	7939	1087	38	1	198	1	ITGB3	17	45360742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61540	45360742	35834468	16819	18965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	70					0	0	1	0	0	T	45811195	C	T	45811195	2	4	22	1	0	0	0	0	0	0	0	1	15717	547	19	1		1	TBX21	17	45811195	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	450453	45811195	35384015	16820	18966											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	293					7.92265e-33	9.37054e-33	1	1	0	T	45886509	G	T	45886509	2	4	22	1	0	0	0	0	0	0	0	1	11329	929	33	2		2	OSBPL7	17	45886509	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75314	45886509	35308701	16821	18967											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000351111.2_Silent_p.Y140Y|MRPL10_ENST00000414011.1_Silent_p.Y150Y			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													66	307					0	0	1	0	0	A	45904115	G	A	45904115	2	1	22	1	0	0	0	0	0	0	0	1	9824	1256	44	2		2	MRPL10	17	45904115	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17606	45904115	35291095	16822	18968											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	601					0	0	1	0	0	A	45909502	G	A	45909502	3	1	22	1	0	0	0	0	1	0	0	0	9048	1319	46	2	53	2	LRRC46	17	45909502	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5387	45909502	35285708	16823	18969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_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													151	728					2.64144e-59	3.31638e-59	1	1	0	A	45994216	C	A	45994216	3	1	22	1	0	0	0	0	1	0	0	0	15018	797	28	2	789	2	SP2	17	45994216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84714	45994216	35200994	16824	18970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_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													174	798					0	0	1	0	0	T	46002805	C	T	46002805	3	4	22	1	0	0	0	0	1	0	0	0	15018	768	27	1	1661	1	SP2	17	46002805	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8589	46002805	35192405	16825	18971											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PNPO_ENST00000534893.1_Missense_Mutation_p.D133E|RP11-6N17.9_ENST00000582262.1_RNA|PNPO_ENST00000544840.1_Missense_Mutation_p.D210E|PNPO_ENST00000434554.2_Missense_Mutation_p.D185E	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)	100	368					8.26238e-36	9.87673e-36	1	1	0	A	46024046	C	A	46024046	3	1	22	1	0	0	0	0	1	0	0	0	12220	506	18	2	710	2	PNPO	17	46024046	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21241	46024046	35171164	16826	18972											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	268					0	0	1	0	0	A	46052879	G	A	46052879	5	1	22	1	0	0	0	0	0	0	1	0	3169	1014	35	2	539	2	CDK5RAP3	17	46052879	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28833	46052879	35142331	16827	18973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000578663.1_3'UTR|CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.T342S	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)	69	371					0	0	1	0	0	T	46056230	A	T	46056230	3	4	22	1	0	0	0	0	1	0	0	0	3169	275	10	5	1066	5	CDK5RAP3	17	46056230	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3351	46056230	35138980	16828	18974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	13					0	0	1	0	0	C	46106511	T	C	46106511	3	2	22	1	0	0	0	0	1	0	0	0	3765	1435	50	3	118	3	COPZ2	17	46106511	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	50281	46106511	35088699	16829	18975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585291.1_Missense_Mutation_p.R92M|NFE2L1_ENST00000357480.5_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													93	447					1.11079e-38	1.33978e-38	1	1	0	T	46128755	G	T	46128755	3	4	22	1	0	0	0	0	1	0	0	0	10414	1000	35	2	277	2	NFE2L1	17	46128755	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22244	46128755	35066455	16830	18976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585291.1_Missense_Mutation_p.E190D|NFE2L1_ENST00000357480.5_Missense_Mutation_p.E190D|NFE2L1_ENST00000361665.3_Missense_Mutation_p.E179D|NFE2L1_ENST00000582155.1_Missense_Mutation_p.E32D|NFE2L1_ENST00000583378.1_Missense_Mutation_p.E21D|NFE2L1_ENST00000536222.1_Missense_Mutation_p.E64D	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													32	1930					2.27111e-07	2.35674e-07	1	1	0	T	46133807	G	T	46133807	3	4	22	1	0	0	0	0	1	0	0	0	10414	991	35	2	576	2	NFE2L1	17	46133807	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5052	46133807	35061403	16831	18977											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585291.1_Missense_Mutation_p.S248I|NFE2L1_ENST00000357480.5_Missense_Mutation_p.S248I|NFE2L1_ENST00000361665.3_Missense_Mutation_p.S267I|NFE2L1_ENST00000582155.1_Missense_Mutation_p.S90I|NFE2L1_ENST00000583378.1_Missense_Mutation_p.S79I|NFE2L1_ENST00000536222.1_Missense_Mutation_p.S122I	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													119	616					1.81975e-59	2.28519e-59	1	1	0	T	46134725	G	T	46134725	3	4	22	1	0	0	0	0	1	0	0	0	10414	971	34	2	847	2	NFE2L1	17	46134725	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	918	46134725	35060485	16832	18978											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000495350.1_Missense_Mutation_p.R85C|CBX1_ENST00000225603.4_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													44	154					0	0	1	0	0	A	46153428	G	A	46153428	3	1	22	1	0	0	0	0	1	0	0	0	2735	1087	38	1	316	1	CBX1	17	46153428	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18703	46153428	35041782	16833	18979											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000495350.1_Missense_Mutation_p.L39F|CBX1_ENST00000225603.4_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													123	585					0	0	1	0	0	A	46154252	G	A	46154252	3	1	22	1	0	0	0	0	1	0	0	0	2735	1000	35	2	458	2	CBX1	17	46154252	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	824	46154252	35040958	16834	18980											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													210	929					0	0	1	0	0	A	46607055	G	A	46607055	4	1	22	1	0	0	0	0	0	1	0	0	7340	1124	39	1	149	1	HOXB1	17	46607055	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	452803	46607055	34588155	16835	18981											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	201					0	0	1	0	0	T	46607804	C	T	46607804	3	4	22	1	0	0	0	0	1	0	0	0	7340	739	26	2	450	2	HOXB1	17	46607804	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	749	46607804	34587406	16836	18982											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000489475.1_Silent_p.G243G|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000472863.1_Silent_p.G243G|HOXB3_ENST00000460160.1_Silent_p.G184G|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000485909.2_Silent_p.G184G|HOXB3_ENST00000490677.1_Silent_p.G182G|HOXB3_ENST00000498678.1_Silent_p.G316G|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000311626.4_Silent_p.G316G|HOXB3_ENST00000476342.1_Silent_p.G316G			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)	111	469					0	0	1	0	0	A	46628044	G	A	46628044	2	1	22	1	0	0	0	0	0	0	0	1	7343	1074	38	1		1	HOXB3	17	46628044	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20240	46628044	34567166	16837	18983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000489475.1_Silent_p.R157R|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000472863.1_Silent_p.R157R|HOXB3_ENST00000460160.1_Silent_p.R98R|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000485909.2_Silent_p.R98R|HOXB3_ENST00000490677.1_Silent_p.R96R|HOXB3_ENST00000498678.1_Silent_p.R230R|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000311626.4_Silent_p.R230R|HOXB3_ENST00000476342.1_Silent_p.R230R			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													146	707					0	0	1	0	0	T	46628302	C	T	46628302	2	4	22	1	0	0	0	0	0	0	0	1	7343	726	26	2		2	HOXB3	17	46628302	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	258	46628302	34566908	16838	18984	123	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000489475.1_Missense_Mutation_p.R157W|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.R157W|HOXB3_ENST00000460160.1_Missense_Mutation_p.R98W|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.R98W|HOXB3_ENST00000490677.1_Missense_Mutation_p.R96W|HOXB3_ENST00000498678.1_Missense_Mutation_p.R230W|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.R230W|HOXB3_ENST00000476342.1_Missense_Mutation_p.R230W			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													70	786					0	0	1	0	0	A	46628304	G	A	46628304	3	1	22	1	0	0	0	0	1	0	0	0	7343	1086	38	1	611	1	HOXB3	17	46628304	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2	46628304	34566906	16839	18985	123	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000489475.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000498678.1_Missense_Mutation_p.G28V|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.G28V|HOXB3_ENST00000476342.1_Missense_Mutation_p.G28V			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													44	262					1.89013e-27	2.18868e-27	1	1	0	A	46629754	C	A	46629754	3	1	22	1	0	0	0	0	1	0	0	0	7343	739	26	2	1220	2	HOXB3	17	46629754	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1450	46629754	34565456	16840	18986											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000467155.2_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													67	261					0	0	1	0	0	T	46670671	C	T	46670671	3	4	22	1	0	0	0	0	1	0	0	0	7345	797	28	2	443	2	HOXB5	17	46670671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40917	46670671	34524539	16841	18987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000567101.1_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													67	813					0	0	1	0	0	A	46685370	G	A	46685370	3	1	22	1	0	0	0	0	1	0	0	0	7347	1145	40	1	169	1	HOXB7	17	46685370	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14699	46685370	34509840	16842	18988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000567101.1_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													25	104					0	0	1	0	0	T	46691677	C	T	46691677	2	4	22	1	0	0	0	0	0	0	0	1	7348	755	27	1		1	HOXB8	17	46691677	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6307	46691677	34503533	16843	18989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000567101.1_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													67	317					2.10328e-26	2.42447e-26	1	1	0	T	46691781	G	T	46691781	3	4	22	1	0	0	0	0	1	0	0	0	7348	991	35	2	453	2	HOXB8	17	46691781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104	46691781	34503429	16844	18990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000567101.1_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													17	372					0	0	1	0	0	T	46691797	C	T	46691797	2	4	22	1	0	0	0	0	0	0	0	1	7348	755	27	1		1	HOXB8	17	46691797	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	46691797	34503413	16845	18991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000567101.1_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													55	250					1.78197e-24	2.03739e-24	1	1	0	A	46703204	C	A	46703204	3	1	22	1	0	0	0	0	1	0	0	0	7349	739	26	2	332	2	HOXB9	17	46703204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11407	46703204	34492006	16846	18992											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	79	274					0	0	1	0	0	G	46868909	A	G	46868909	3	3	22	1	0	0	0	0	1	0	0	0	16793	449	16	3	1648	3	TTLL6	17	46868909	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	165705	46868909	34326301	16847	18993											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													139	484					0	0	1	0	0	A	47075176	G	A	47075176	2	1	22	1	0	0	0	0	0	0	0	1	7617	1103	39	1		1	IGF2BP1	17	47075176	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	206267	47075176	34120034	16848	18994											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	290					0	0	1	0	0	A	47115652	G	A	47115652	3	1	22	1	0	0	0	0	1	0	0	0	7617	1261	44	2	546	2	IGF2BP1	17	47115652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40476	47115652	34079558	16849	18995											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	233					0	0	1	0	0	T	47115672	C	T	47115672	3	4	22	1	0	0	0	0	1	0	0	0	7617	507	18	2	566	2	IGF2BP1	17	47115672	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	47115672	34079538	16850	18996											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	340					0	0	1	0	0	A	47123649	G	A	47123649	3	1	22	1	0	0	0	0	1	0	0	0	7617	971	34	2	1609	2	IGF2BP1	17	47123649	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7977	47123649	34071561	16851	18997											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	145					1.5739e-10	1.67034e-10	1	1	0	T	47126761	G	T	47126761	3	4	22	1	0	0	0	0	1	0	0	0	7617	962	34	2	1747	2	IGF2BP1	17	47126761	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3112	47126761	34068449	16852	18998											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	197					0	0	1	0	0	G	47376251	T	G	47376251	3	3	22	1	0	0	0	0	1	0	0	0	18122	1609	56	3	479	3	ZNF652	17	47376251	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	249490	47376251	33818959	16853	18999											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	390					0	0	1	0	0	A	47394317	G	A	47394317	2	1	22	1	0	0	0	0	0	0	0	1	18122	958	34	2		2	ZNF652	17	47394317	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18066	47394317	33800893	16854	19000											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	417					0	0	1	0	0	G	47394342	T	G	47394342	3	3	22	1	0	0	0	0	1	0	0	0	18122	1609	56	3	1094	3	ZNF652	17	47394342	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25	47394342	33800868	16855	19001											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	1030					8.60227e-14	9.30909e-14	1	1	0	A	47394623	C	A	47394623	3	1	22	1	0	0	0	0	1	0	0	0	18122	680	24	2	1375	2	ZNF652	17	47394623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	281	47394623	33800587	16856	19002											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Missense_Mutation_p.R97W|PHB_ENST00000508009.1_5'UTR	NM_002634.2	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													58	302					0	0	1	0	0	A	47486797	G	A	47486797	3	1	22	1	0	0	0	0	1	0	0	0	11862	1115	39	1	545	1	PHB	17	47486797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92174	47486797	33708413	16857	19003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	147					0	0	1	0	0	A	47590307	G	A	47590307	3	1	22	1	0	0	0	0	1	0	0	0	10443	1087	38	1	1242	1	NGFR	17	47590307	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103510	47590307	33604903	16858	19004											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000513602.1_Intron|FAM117A_ENST00000514018.1_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													7	59					0	0	1	0	0	A	47841426	G	A	47841426	2	1	22	1	0	0	0	0	0	0	0	1	5440	1306	46	2		2	FAM117A	17	47841426	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	251119	47841426	33353784	16859	19005											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	623					0	0	1	0	0	C	48156190	T	C	48156190	3	2	22	1	0	0	0	0	1	0	0	0	7921	1638	57	3	2374	3	ITGA3	17	48156190	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	314764	48156190	33039020	16860	19006											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	47					0.00448238	0.00451339	1	1	0	A	48158697	C	A	48158697	2	1	22	1	0	0	0	0	0	0	0	1	7921	842	30	2		2	ITGA3	17	48158697	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2507	48158697	33036513	16861	19007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				17	63					0	0	1	0	0	T	48172856	C	T	48172856	2	4	22	1	0	0	0	0	0	0	0	1	11723	489	17	2		2	PDK2	17	48172856	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14159	48172856	33022354	16862	19008											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				32	113					0	0	1	0	0	T	48185696	C	T	48185696	3	4	22	1	0	0	0	0	1	0	0	0	11723	768	27	1	806	1	PDK2	17	48185696	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12840	48185696	33009514	16863	19009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				13	62					1.5842e-08	1.65642e-08	1	1	0	T	48187434	G	T	48187434	3	4	22	1	0	0	0	0	1	0	0	0	11723	933	33	2	1239	2	PDK2	17	48187434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1738	48187434	33007776	16864	19010											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Missense_Mutation_p.R189H	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													43	196					0	0	1	0	0	T	48193388	C	T	48193388	3	4	22	1	0	0	0	0	1	0	0	0	13871	768	27	1	799	1	SAMD14	17	48193388	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5954	48193388	33001822	16865	19011											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	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													148	584					0	0	1	0	0	T	48216883	C	T	48216883	3	4	22	1	0	0	0	0	1	0	0	0	12428	739	26	2	543	2	PPP1R9B	17	48216883	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23495	48216883	32978327	16866	19012											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	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													12	35					0	0	1	0	0	G	48218701	T	G	48218701	3	3	22	1	0	0	0	0	1	0	0	0	12428	1725	60	3	818	3	PPP1R9B	17	48218701	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1818	48218701	32976509	16867	19013											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	HILS1_ENST00000504307.1_RNA|SGCA_ENST00000344627.6_Missense_Mutation_p.R246W|SGCA_ENST00000543315.1_Missense_Mutation_p.R246W|SGCA_ENST00000513942.1_3'UTR	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													32	140					0	0	1	0	0	T	48252742	C	T	48252742	3	4	22	1	0	0	0	0	1	0	0	0	14253	759	27	1	1142	1	SGCA	17	48252742	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34041	48252742	32942468	16868	19014											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000079.2	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						116	432					0	0	1	0	0	A	48263816	G	A	48263816	2	1	22	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	16869	19015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000079.2	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						28	133					1.39806e-14	1.52044e-14	1	1	0	T	48264896	G	T	48264896	2	4	22	1	0	0	0	0	0	0	0	1	3700	958	34	2		2	COL1A1	17	48264896	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1080	48264896	32930314	16870	19016											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	183					0	0	1	0	0	T	48434506	C	T	48434506	3	4	22	1	0	0	0	0	1	0	0	0	17524	739	26	2	1868	2	XYLT2	17	48434506	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169610	48434506	32760704	16871	19017											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	68					0	0	1	0	0	T	48437340	C	T	48437340	2	4	22	1	0	0	0	0	0	0	0	1	17524	796	28	2		2	XYLT2	17	48437340	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2834	48437340	32757870	16872	19018											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP1-117B12.4_ENST00000511627.1_RNA|LRRC59_ENST00000576448.1_Missense_Mutation_p.L24I	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)	87	401					5.52034e-35	6.58082e-35	1	1	0	T	48474609	G	T	48474609	3	4	22	1	0	0	0	0	1	0	0	0	9060	1000	35	2	881	2	LRRC59	17	48474609	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37269	48474609	32720601	16873	19019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000300441.4_Missense_Mutation_p.Q240H|ACSF2_ENST00000502667.1_Missense_Mutation_p.Q227H|ACSF2_ENST00000541920.1_Missense_Mutation_p.Q80H			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													73	340					1.52378e-38	1.83746e-38	1	1	0	T	48539874	G	T	48539874	3	4	22	1	0	0	0	0	1	0	0	0	175	962	34	2	742	2	ACSF2	17	48539874	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65265	48539874	32655336	16874	19020											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000427954.2_Intron|CHAD_ENST00000258969.4_Silent_p.P145P|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000541920.1_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													59	314					0	0	1	0	0	T	48545740	C	T	48545740	2	4	22	1	0	0	0	0	0	0	0	1	3332	755	27	1		1	CHAD	17	48545740	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5866	48545740	32649470	16875	19021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000427954.2_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.A22T|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000541920.1_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													25	76					0	0	1	0	0	T	48546111	C	T	48546111	3	4	22	1	0	0	0	0	1	0	0	0	3332	768	27	1	1027	1	CHAD	17	48546111	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	371	48546111	32649099	16876	19022											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	415					0	0	1	0	0	A	48614080	G	A	48614080	3	1	22	1	0	0	0	0	1	0	0	0	5215	1059	37	1	165	1	EPN3	17	48614080	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67969	48614080	32581130	16877	19023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000268933.3_Silent_p.E333E|EPN3_ENST00000537145.1_Silent_p.E361E			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													58	293					0	0	1	0	0	A	48618173	G	A	48618173	3	1	22	1	0	0	0	0	1	0	0	0	5215	991	35	2	1021	2	EPN3	17	48618173	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4093	48618173	32577037	16878	19024											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429973.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1098W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1098W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1098W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1098W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1121W|CACNA1G_ENST00000514181.1_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													12	64					0	0	1	0	0	T	48676891	C	T	48676891	3	4	22	1	0	0	0	0	1	0	0	0	2562	759	27	1	3427	1	CACNA1G	17	48676891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58718	48676891	32518319	16879	19025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429973.2_Silent_p.D1226D|CACNA1G_ENST00000510115.1_Silent_p.D1203D|CACNA1G_ENST00000510366.1_Silent_p.D1226D|CACNA1G_ENST00000514079.1_Silent_p.D1226D|CACNA1G_ENST00000360761.4_Silent_p.D1203D|CACNA1G_ENST00000507510.2_Silent_p.D1226D|CACNA1G_ENST00000505165.1_Silent_p.D1226D|CACNA1G_ENST00000512389.1_Silent_p.D1226D|CACNA1G_ENST00000416767.4_Silent_p.D1226D|CACNA1G_ENST00000507609.1_Silent_p.D1226D|CACNA1G_ENST00000358244.5_Silent_p.D1203D|CACNA1G_ENST00000514717.1_Silent_p.D1203D|CACNA1G_ENST00000507896.1_Silent_p.D1226D|CACNA1G_ENST00000513964.1_Silent_p.D1226D|CACNA1G_ENST00000502264.1_Silent_p.D1203D|CACNA1G_ENST00000507336.1_Silent_p.D1226D|CACNA1G_ENST00000354983.4_Silent_p.D1203D|CACNA1G_ENST00000515165.1_Silent_p.D1226D|CACNA1G_ENST00000515765.1_Silent_p.D1226D|CACNA1G_ENST00000442258.2_Silent_p.D1203D|CACNA1G_ENST00000513689.2_Silent_p.D1226D|CACNA1G_ENST00000503485.1_Silent_p.D1226D|CACNA1G_ENST00000515411.1_Silent_p.D1226D|CACNA1G_ENST00000359106.5_Silent_p.D1226D|CACNA1G_ENST00000514181.1_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													21	158					0	0	1	0	0	T	48677208	C	T	48677208	2	4	22	1	0	0	0	0	0	0	0	1	2562	535	19	1		1	CACNA1G	17	48677208	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	317	48677208	32518002	16880	19026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429973.2_Missense_Mutation_p.R1581H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1565H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1547H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1606H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1576H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1599H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1565H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1542H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1554H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1576H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1565H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1558H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1554H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1565H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1581H|CACNA1G_ENST00000359106.5_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													47	165					0	0	1	0	0	A	48692758	G	A	48692758	3	1	22	1	0	0	0	0	1	0	0	0	2562	1087	38	1	5169	1	CACNA1G	17	48692758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15550	48692758	32502452	16881	19027											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429973.2_Missense_Mutation_p.Q1974H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Q2006H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Q1940H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Q1999H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Q1969H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Q2040H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Q1992H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Q1981H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Q1985H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Q1935H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Q1981H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Q1947H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Q2014H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Q2074H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Q2051H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Q1992H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Q2029H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Q1951H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Q1995H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Q2022H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.Q2085H|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													5	33					0.217242	0.217458	1	1	0	T	48701746	G	T	48701746	3	4	22	1	0	0	0	0	1	0	0	0	2562	962	34	2	6668	2	CACNA1G	17	48701746	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8988	48701746	32493464	16882	19028											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429973.2_Missense_Mutation_p.G2209D|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G2241D|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G2175D|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G2234D|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G2204D|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G2275D|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G2148D|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G2216D|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G2220D|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G2114D|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G2170D|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G2137D|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G2182D|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G2249D|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G2309D|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G2286D|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G2227D|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G2264D|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G2186D|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G2230D|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G2193D|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G2257D|CACNA1G_ENST00000359106.5_Missense_Mutation_p.G2320D|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)	18	94					0	0	1	0	0	A	48703937	G	A	48703937	3	1	22	1	0	0	0	0	1	0	0	0	2562	1261	44	2	7376	2	CACNA1G	17	48703937	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2191	48703937	32491273	16883	19029											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	247					0	0	1	0	0	A	48733272	G	A	48733272	3	1	22	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	16884	19030											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	257					1.83081e-24	2.09304e-24	1	1	0	T	48746712	G	T	48746712	5	4	22	1	0	0	0	0	0	0	1	0	54	1014	35	2	2214	2	ABCC3	17	48746712	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13440	48746712	32448498	16885	19031											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.P289L|RP11-506D12.5_ENST00000572491.2_RNA	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													59	355					0	0	1	0	0	T	48917794	C	T	48917794	3	4	22	1	0	0	0	0	1	0	0	0	17419	652	23	1	1151	1	WFIKKN2	17	48917794	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171082	48917794	32277416	16886	19032											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	WFIKKN2_ENST00000426127.1_Silent_p.G442G|RP11-506D12.5_ENST00000572491.2_RNA	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													46	206					0	0	1	0	0	T	48918254	C	T	48918254	2	4	22	1	0	0	0	0	0	0	0	1	17419	755	27	1		1	WFIKKN2	17	48918254	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	460	48918254	32276956	16887	19033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357122.4_Missense_Mutation_p.T957I|SPAG9_ENST00000510283.1_Missense_Mutation_p.T814I|SPAG9_ENST00000505279.1_Missense_Mutation_p.T961I	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													83	344					0	0	1	0	0	A	49064500	G	A	49064500	3	1	22	1	0	0	0	0	1	0	0	0	15041	1029	36	2	1089	2	SPAG9	17	49064500	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146246	49064500	32130710	16888	19034											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357122.4_Silent_p.T568T|SPAG9_ENST00000510283.1_Silent_p.T425T|SPAG9_ENST00000505279.1_Silent_p.T572T	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													81	344					0	0	1	0	0	T	49075897	C	T	49075897	2	4	22	1	0	0	0	0	0	0	0	1	15041	523	19	1		1	SPAG9	17	49075897	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11397	49075897	32119313	16889	19035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000555572.1_Intron|NME2_ENST00000376392.6_Intron|NME1_ENST00000511355.1_3'UTR|NME2_ENST00000393193.2_Intron|NME1_ENST00000393196.3_Missense_Mutation_p.G131S|NME1_ENST00000013034.3_Missense_Mutation_p.G156S	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													68	331					0	0	1	0	0	A	49239138	G	A	49239138	3	1	22	1	0	0	0	0	1	0	0	0	10536	1116	39	1	484	1	NME1	17	49239138	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163241	49239138	31956072	16890	19036											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376392.6_Silent_p.K154K|NME1-NME2_ENST00000513177.1_Silent_p.K39K|NME2_ENST00000393198.2_Silent_p.K39K|NME2_ENST00000393193.2_Silent_p.K154K|NME1-NME2_ENST00000393190.1_Silent_p.K39K|NME1-NME2_ENST00000514264.2_Silent_p.K39K|NME1-NME2_ENST00000512737.1_Silent_p.K39K|NME2_ENST00000393185.1_5'UTR|NME2_ENST00000393183.3_5'UTR|NME1-NME2_ENST00000503064.1_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)	65	367					0	0	1	0	0	A	49244308	G	A	49244308	2	1	22	1	0	0	0	0	0	0	0	1	10538	1020	36	2		2	NME2	17	49244308	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5170	49244308	31950902	16891	19037											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415868.1_Missense_Mutation_p.S428Y|MBTD1_ENST00000376381.2_Intron	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													30	318					1.55811e-20	1.74671e-20	1	1	0	T	49272664	G	T	49272664	3	4	22	1	0	0	0	0	1	0	0	0	9410	942	33	2	623	2	MBTD1	17	49272664	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28356	49272664	31922546	16892	19038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	111					7.38237e-10	7.79401e-10	1	1	0	A	51900373	C	A	51900373	1	1	22	1	0	0	0	0	0	0	0	0	8340	638	22	2		2	KIF2B	17	51900373	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2627709	51900373	29294837	16893	19039											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													146	633					1.88352e-63	2.37737e-63	1	1	0	T	51900714	G	T	51900714	3	4	22	1	0	0	0	0	1	0	0	0	8340	1000	35	2	322	2	KIF2B	17	51900714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	341	51900714	29294496	16894	19040											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	341					0	0	1	0	0	G	51900974	T	G	51900974	3	3	22	1	0	0	0	0	1	0	0	0	8340	1638	57	3	582	3	KIF2B	17	51900974	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	260	51900974	29294236	16895	19041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	284					0	0	1	0	0	C	51901131	T	C	51901131	3	2	22	1	0	0	0	0	1	0	0	0	8340	1696	59	3	739	3	KIF2B	17	51901131	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	157	51901131	29294079	16896	19042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	442					0	0	1	0	0	T	51901392	C	T	51901392	3	4	22	1	0	0	0	0	1	0	0	0	8340	710	25	2	1000	2	KIF2B	17	51901392	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	261	51901392	29293818	16897	19043											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	377					0	0	1	0	0	T	51901512	A	T	51901512	3	4	22	1	0	0	0	0	1	0	0	0	8340	72	3	5	1120	5	KIF2B	17	51901512	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	120	51901512	29293698	16898	19044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:53027406C>T	ENST00000575882.1	+	14	1642	c.1288_splice	c.e14-1	p.A430_splice	TOM1L1_ENST00000348161.4_Splice_Site_p.A353_splice|TOM1L1_ENST00000445275.2_Splice_Site_p.A419_splice|TOM1L1_ENST00000536554.1_Splice_Site_p.A353_splice|TOM1L1_ENST00000540336.1_Splice_Site_p.A318_splice|TOM1L1_ENST00000572158.1_Splice_Site_p.A423_splice	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													54	292					0	0	1	0	0	T	53027406	C	T	53027406	5	4	22	1	0	0	0	0	0	0	1	0	16412	782	27	1	1343	1	TOM1L1	17	53027406	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1125894	53027406	28167804	16899	19045											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|COX11_ENST00000573912.1_Intron|TOM1L1_ENST00000536554.1_Missense_Mutation_p.A388V|TOM1L1_ENST00000540336.1_Missense_Mutation_p.A353V|TOM1L1_ENST00000572158.1_Missense_Mutation_p.A458V	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													12	279					0	0	1	0	0	T	53037950	C	T	53037950	3	4	22	1	0	0	0	0	1	0	0	0	16412	797	28	2	1452	2	TOM1L1	17	53037950	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10544	53037950	28157260	16900	19046											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000325214.6_Missense_Mutation_p.S38P|PCTP_ENST00000268896.5_Missense_Mutation_p.S110P|PCTP_ENST00000573500.1_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													64	357					0	0	1	0	0	C	53848535	T	C	53848535	3	2	22	1	0	0	0	0	1	0	0	0	11654	1667	58	3	338	3	PCTP	17	53848535	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	810585	53848535	27346675	16901	19047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	281					0	0	1	0	0	T	54520268	C	T	54520268	3	4	22	1	0	0	0	0	1	0	0	0	621	536	19	1	1116	1	ANKFN1	17	54520268	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	671733	54520268	26674942	16902	19048											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	423					4.16533e-50	5.15817e-50	1	1	0	A	54554920	C	A	54554920	2	1	22	1	0	0	0	0	0	0	0	1	621	900	32	2		2	ANKFN1	17	54554920	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34652	54554920	26640290	16903	19049											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397862.2_Missense_Mutation_p.A84T|C17orf67_ENST00000575658.1_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													10	181					0	0	1	0	0	T	54872520	C	T	54872520	3	4	22	1	0	0	0	0	1	0	0	0	1884	768	27	1	98	1	C17orf67	17	54872520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	317600	54872520	26322690	16904	19050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54893177C>A	ENST00000397861.2	-	0	1274				C17orf67_ENST00000397862.2_Missense_Mutation_p.G23C|C17orf67_ENST00000575658.1_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													41	163					4.07013e-28	4.72867e-28	1	1	0	A	54893177	C	A	54893177	1	1	22	1	0	0	0	0	0	0	0	0	1884	681	24	2		2	C17orf67	17	54893177	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20657	54893177	26302033	16905	19051											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	430					0	0	1	0	0	T	54925319	C	T	54925319	2	4	22	1	0	0	0	0	0	0	0	1	4496	680	24	2		2	DGKE	17	54925319	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32142	54925319	26269891	16906	19052											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													167	702					0	0	1	0	0	T	54939214	C	T	54939214	2	4	22	1	0	0	0	0	0	0	0	1	4496	874	31	1		1	DGKE	17	54939214	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13895	54939214	26255996	16907	19053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000572557.1_Silent_p.A285A|AKAP1_ENST00000314126.3_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													13	640					0	0	1	0	0	A	55183680	G	A	55183680	2	1	22	1	0	0	0	0	0	0	0	1	442	1074	38	1		1	AKAP1	17	55183680	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	244466	55183680	26011530	16908	19054											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								122	582					0	0	1	0	0	G	55335665	A	G	55335665	3	3	22	1	0	0	0	0	1	0	0	0	9925	72	3	3	284	3	MSI2	17	55335665	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	151985	55335665	25859545	16909	19055											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000416426.2_Silent_p.A279A|MSI2_ENST00000442934.2_Silent_p.A222A	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								15	896					0	0	1	0	0	T	55752391	C	T	55752391	2	4	22	1	0	0	0	0	0	0	0	1	9925	639	23	1		1	MSI2	17	55752391	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	416726	55752391	25442819	16910	19056											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	284					1.00798e-23	1.14783e-23	1	1	0	A	55917297	C	A	55917297	5	1	22	1	0	0	0	0	0	0	1	0	9883	811	28	2	156	2	MRPS23	17	55917297	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	164906	55917297	25277913	16911	19057											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	223					0	0	1	0	0	C	56058141	T	C	56058141	3	2	22	1	0	0	0	0	1	0	0	0	17215	1696	59	3	778	3	VEZF1	17	56058141	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	140844	56058141	25137069	16912	19058											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	488					1.81242e-41	2.20198e-41	1	1	0	T	56247439	G	T	56247439	3	4	22	1	0	0	0	0	1	0	0	0	11104	1241	43	2	425	2	OR4D2	17	56247439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	189298	56247439	24947771	16913	19059											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	596					7.63215e-27	8.81417e-27	1	1	0	T	56247902	G	T	56247902	3	4	22	1	0	0	0	0	1	0	0	0	11104	1203	42	2	888	2	OR4D2	17	56247902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	463	56247902	24947308	16914	19060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	737					0	0	1	0	0	A	56270749	G	A	56270749	3	1	22	1	0	0	0	0	1	0	0	0	5228	1087	38	1	198	1	EPX	17	56270749	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22847	56270749	24924461	16915	19061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56271324G>A	ENST00000225371.5	+	5	575	c.464_splice	c.e5-1	p.K155_splice		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													51	233					0	0	1	0	0	A	56271324	G	A	56271324	5	1	22	1	0	0	0	0	0	0	1	0	5228	1188	41	2	483	2	EPX	17	56271324	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	575	56271324	24923886	16916	19062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	298					3.38236e-24	3.86174e-24	1	1	0	A	56274612	C	A	56274612	3	1	22	1	0	0	0	0	1	0	0	0	5228	680	24	2	1140	2	EPX	17	56274612	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3288	56274612	24920598	16917	19063											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	160					0	0	1	0	0	A	56276417	G	A	56276417	2	1	22	1	0	0	0	0	0	0	0	1	5228	1103	39	1		1	EPX	17	56276417	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1805	56276417	24918793	16918	19064											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	359					0	0	1	0	0	A	56281654	G	A	56281654	3	1	22	1	0	0	0	0	1	0	0	0	5228	1058	37	1	2064	1	EPX	17	56281654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5237	56281654	24913556	16919	19065											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000313863.6_Silent_p.S149S|MKS1_ENST00000537529.2_Silent_p.S139S|MKS1_ENST00000546108.1_Intron|MKS1_ENST00000337050.7_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													15	113					0	0	1	0	0	A	56292170	G	A	56292170	2	1	22	1	0	0	0	0	0	0	0	1	9657	1078	38	1		1	MKS1	17	56292170	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10516	56292170	24903040	16920	19066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000582328.1_Missense_Mutation_p.A78V|LPO_ENST00000543544.1_Missense_Mutation_p.A102V|LPO_ENST00000421678.2_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													30	131					0	0	1	0	0	T	56326965	C	T	56326965	3	4	22	1	0	0	0	0	1	0	0	0	8967	768	27	1	500	1	LPO	17	56326965	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34795	56326965	24868245	16921	19067											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000582328.1_Missense_Mutation_p.E84D|LPO_ENST00000543544.1_Missense_Mutation_p.E108D|LPO_ENST00000421678.2_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													24	121					3.6726e-16	4.02855e-16	1	1	0	T	56326984	G	T	56326984	3	4	22	1	0	0	0	0	1	0	0	0	8967	1020	36	2	519	2	LPO	17	56326984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19	56326984	24868226	16922	19068											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000582328.1_Missense_Mutation_p.Q400H|LPO_ENST00000543544.1_Missense_Mutation_p.Q424H|LPO_ENST00000421678.2_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													66	218					8.3131e-28	9.64569e-28	1	1	0	T	56342265	G	T	56342265	3	4	22	1	0	0	0	0	1	0	0	0	8967	962	34	2	1483	2	LPO	17	56342265	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15281	56342265	24852945	16923	19069											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000582328.1_Missense_Mutation_p.R431W|LPO_ENST00000543544.1_Missense_Mutation_p.R455W|LPO_ENST00000421678.2_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													32	155					0	0	1	0	0	T	56343534	C	T	56343534	3	4	22	1	0	0	0	0	1	0	0	0	8967	759	27	1	1578	1	LPO	17	56343534	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1269	56343534	24851676	16924	19070											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	477					0	0	1	0	0	T	56355451	C	T	56355451	3	4	22	1	0	0	0	0	1	0	0	0	9781	768	27	1	1320	1	MPO	17	56355451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11917	56355451	24839759	16925	19071											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	160					0	0	1	0	0	C	56356920	T	C	56356920	3	2	22	1	0	0	0	0	1	0	0	0	9781	1667	58	3	1761	3	MPO	17	56356920	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1469	56356920	24838290	16926	19072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000268893.6_Missense_Mutation_p.E1157G|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E1217G	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													69	351					0	0	1	0	0	C	56387922	T	C	56387922	3	2	22	1	0	0	0	0	1	0	0	0	1580	1551	54	3	1971	3	BZRAP1	17	56387922	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31002	56387922	24807288	16927	19073											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000268893.6_Missense_Mutation_p.L889I|BZRAP1_ENST00000343736.4_Missense_Mutation_p.L949I	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													12	307					4.3838e-07	4.54049e-07	1	1	0	T	56389337	G	T	56389337	3	4	22	1	0	0	0	0	1	0	0	0	1580	971	34	2	2788	2	BZRAP1	17	56389337	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1415	56389337	24805873	16928	19074											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000268893.6_Silent_p.S694S|BZRAP1_ENST00000343736.4_Silent_p.S754S	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													86	394					0	0	1	0	0	A	56389920	G	A	56389920	2	1	22	1	0	0	0	0	0	0	0	1	1580	1078	38	1		1	BZRAP1	17	56389920	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	583	56389920	24805290	16929	19075											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56435161delC	ENST00000584437.1	-	8	3931	c.1976delG	c.(1975-1977)gtfs	p.G659fs	RNF43_ENST00000583753.1_Frame_Shift_Del_p.G618fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.G659fs|RNF43_ENST00000581868.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.G659fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.G618fs|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(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)					CTCGGAGGGACCCCCCCGCCT	0.602													11	974	---	---	---	---						-	56435161	C	-	56435161	7	5	22	1	0	1	0	1	0	0	0	0	13547	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-IB-7651-01A-11D-2154-08	45241	56435161	24760049	16930	19076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RNF43_ENST00000500597.2_Missense_Mutation_p.S445I|RNF43_ENST00000581868.1_Missense_Mutation_p.S359I|RNF43_ENST00000583753.1_Missense_Mutation_p.S445I|RNF43_ENST00000407977.2_Missense_Mutation_p.S486I|RNF43_ENST00000577625.1_Missense_Mutation_p.S359I|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Missense_Mutation_p.S486I			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													86	445					1.42074e-37	1.70676e-37	1	1	0	A	56435680	C	A	56435680	3	1	22	1	0	0	0	0	1	0	0	0	13547	797	28	2	902	2	RNF43	17	56435680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	519	56435680	24759530	16931	19077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RNF43_ENST00000500597.2_Silent_p.N138N|RNF43_ENST00000581868.1_Silent_p.N52N|RNF43_ENST00000583753.1_Silent_p.N138N|RNF43_ENST00000407977.2_Silent_p.N179N|RNF43_ENST00000577625.1_Silent_p.N52N|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Silent_p.N179N			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													94	401					0	0	1	0	0	A	56440681	G	A	56440681	2	1	22	1	0	0	0	0	0	0	0	1	13547	1252	44	2		2	RNF43	17	56440681	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5001	56440681	24754529	16932	19078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	298					0	0	1	0	0	T	56557601	C	T	56557601	3	4	22	1	0	0	0	0	1	0	0	0	7440	652	23	1	1232	1	HSF5	17	56557601	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116920	56557601	24637609	16933	19079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	95					0	0	1	0	0	A	56565462	G	A	56565462	2	1	22	1	0	0	0	0	0	0	0	1	7440	1074	38	1		1	HSF5	17	56565462	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7861	56565462	24629748	16934	19080											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													212	880					1.85597e-80	2.37377e-80	1	1	0	T	56569901	G	T	56569901	3	4	22	1	0	0	0	0	1	0	0	0	9994	933	33	2	214	2	MTMR4	17	56569901	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4439	56569901	24625309	16935	19081											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													161	700					0	0	1	0	0	A	56572543	G	A	56572543	3	1	22	1	0	0	0	0	1	0	0	0	9994	1348	47	2	643	2	MTMR4	17	56572543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2642	56572543	24622667	16936	19082											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	316					3.07281e-33	3.63882e-33	1	1	0	T	56584573	G	T	56584573	3	4	22	1	0	0	0	0	1	0	0	0	9994	1203	42	2	2858	2	MTMR4	17	56584573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12030	56584573	24610637	16937	19083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	161					8.72198e-27	1.00714e-26	1	1	0	T	56586165	G	T	56586165	3	4	22	1	0	0	0	0	1	0	0	0	9994	971	34	2	3312	2	MTMR4	17	56586165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1592	56586165	24609045	16938	19084											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000579371.1_Intron|SEPT4_ENST00000583114.1_Missense_Mutation_p.D288N|SEPT4_ENST00000393086.1_Missense_Mutation_p.D416N|SEPT4_ENST00000412945.3_Missense_Mutation_p.D427N|SEPT4_ENST00000317256.6_Missense_Mutation_p.D416N|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)	30	777					0	0	1	0	0	T	56598178	C	T	56598178	3	4	22	1	0	0	0	0	1	0	0	0	14120	884	31	1	141	1	SEPT4	17	56598178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12013	56598178	24597032	16939	19085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000579371.1_Silent_p.C157C|SEPT4_ENST00000457347.2_Silent_p.C271C|SEPT4_ENST00000583114.1_Silent_p.C109C|SEPT4_ENST00000393086.1_Silent_p.C237C|SEPT4_ENST00000412945.3_Silent_p.C248C|SEPT4_ENST00000317256.6_Silent_p.C237C|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000317268.3_Silent_p.C256C|SEPT4_ENST00000580809.1_Silent_p.C138C	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													69	321					0	0	1	0	0	A	56599357	G	A	56599357	2	1	22	1	0	0	0	0	0	0	0	1	14120	1195	42	2		2	SEPT4	17	56599357	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1179	56599357	24595853	16940	19086											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	309					1.85204e-48	2.28596e-48	1	1	0	A	56651552	C	A	56651552	3	1	22	1	0	0	0	0	1	0	0	0	15837	913	32	2	1020	2	TEX14	17	56651552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52195	56651552	24543658	16941	19087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	316					0	0	1	0	0	T	56679270	C	T	56679270	2	4	22	1	0	0	0	0	0	0	0	1	15837	697	25	2		2	TEX14	17	56679270	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27718	56679270	24515940	16942	19088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000583539.1_Missense_Mutation_p.E92K|RAD51C_ENST00000421782.2_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				74	262					0	0	1	0	0	A	56772420	G	A	56772420	3	1	22	1	0	0	0	0	1	0	0	0	13040	1291	45	2	280	2	RAD51C	17	56772420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93150	56772420	24422790	16943	19089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				12	71					1.08611e-07	1.12939e-07	1	1	0	T	56811478	G	T	56811478	5	4	22	1	0	0	0	0	0	0	1	0	13040	985	34	2	1064	2	RAD51C	17	56811478	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39058	56811478	24383732	16944	19090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	50					0	0	1	0	0	A	56833506	G	A	56833506	3	1	22	1	0	0	0	0	1	0	0	0	12387	1059	37	1	150	1	PPM1E	17	56833506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22028	56833506	24361704	16945	19091											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000262294.7_Missense_Mutation_p.T873P|TRIM37_ENST00000393065.2_Missense_Mutation_p.T839P|TRIM37_ENST00000393066.3_Missense_Mutation_p.T873P			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				69	236					0	0	1	0	0	G	57089767	T	G	57089767	3	3	22	1	0	0	0	0	1	0	0	0	16572	1667	58	3	297	3	TRIM37	17	57089767	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	256261	57089767	24105443	16946	19092											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000584889.1_Missense_Mutation_p.E62K|TRIM37_ENST00000376149.3_5'UTR|TRIM37_ENST00000393065.2_Missense_Mutation_p.E28K|TRIM37_ENST00000393066.3_Missense_Mutation_p.E62K	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				16	177					0	0	1	0	0	T	57165749	C	T	57165749	3	4	22	1	0	0	0	0	1	0	0	0	16572	922	32	2	2802	2	TRIM37	17	57165749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75982	57165749	24029461	16947	19093											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	143					0	0	1	0	0	A	57466830	G	A	57466830	5	1	22	1	0	0	0	0	0	0	1	0	17550	1159	40	1	281	1	YPEL2	17	57466830	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	301081	57466830	23728380	16948	19094											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	216					0	0	1	0	0	T	57651186	C	T	57651186	3	4	22	1	0	0	0	0	1	0	0	0	4540	710	25	2	650	2	DHX40	17	57651186	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	184356	57651186	23544024	16949	19095											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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 "								85	351					0	0	1	0	0	G	57741290	A	G	57741290	3	3	22	1	0	0	0	0	1	0	0	0	3589	14	1	3	1490	3	CLTC	17	57741290	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	90104	57741290	23453920	16950	19096											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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 "								77	292					0	0	1	0	0	A	57758684	G	A	57758684	3	1	22	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	16951	19097											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000592426.1_Missense_Mutation_p.A63T|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Missense_Mutation_p.A63T|TUBD1_ENST00000394239.3_Missense_Mutation_p.A63T|TUBD1_ENST00000376094.4_Missense_Mutation_p.A63T|TUBD1_ENST00000539018.1_Intron	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													25	253					0	0	1	0	0	T	57963577	C	T	57963577	3	4	22	1	0	0	0	0	1	0	0	0	16824	739	26	2	1202	2	TUBD1	17	57963577	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	204893	57963577	23231633	16952	19098											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	121					1.64113e-05	1.68037e-05	1	1	0	A	58033915	C	A	58033915	5	1	22	1	0	0	0	0	0	0	1	0	13553	811	28	2	314	2	RNFT1	17	58033915	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70338	58033915	23161295	16953	19099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	153					7.53189e-24	8.58305e-24	1	1	0	T	58259106	G	T	58259106	3	4	22	1	0	0	0	0	1	0	0	0	17123	942	33	2	699	2	USP32	17	58259106	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	225191	58259106	22936104	16954	19100											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	330					0	0	1	0	0	A	58260584	G	A	58260584	2	1	22	1	0	0	0	0	0	0	0	1	17123	1136	40	1		1	USP32	17	58260584	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1478	58260584	22934626	16955	19101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	445					0	0	1	0	0	T	58262867	C	T	58262867	3	4	22	1	0	0	0	0	1	0	0	0	17123	710	25	2	1046	2	USP32	17	58262867	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2283	58262867	22932343	16956	19102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58286188G>A	ENST00000300896.4	-	23	2794	c.2598_splice	c.e23-1	p.A867_splice	USP32_ENST00000592339.1_Splice_Site_p.A537_splice	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													44	261					0	0	1	0	0	A	58286188	G	A	58286188	5	1	22	1	0	0	0	0	0	0	1	0	17123	1217	42	2	2262	2	USP32	17	58286188	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23321	58286188	22909022	16957	19103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	281					0	0	1	0	0	G	58422960	A	G	58422960	3	3	22	1	0	0	0	0	1	0	0	0	17123	391	14	3	4878	3	USP32	17	58422960	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	136772	58422960	22772250	16958	19104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	186					0	0	1	0	0	T	58506770	C	T	58506770	2	4	22	1	0	0	0	0	0	0	0	1	1881	506	18	2		2	C17orf64	17	58506770	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83810	58506770	22688440	16959	19105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588462.1_Missense_Mutation_p.S574L|BCAS3_ENST00000588874.1_Missense_Mutation_p.S330L|BCAS3_ENST00000390652.5_Missense_Mutation_p.S574L|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000585744.1_Missense_Mutation_p.S345L|BCAS3_ENST00000407086.3_Missense_Mutation_p.S559L|BCAS3_ENST00000408905.3_Missense_Mutation_p.S559L			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													84	295					0	0	1	0	0	T	59112065	C	T	59112065	3	4	22	1	0	0	0	0	1	0	0	0	1350	893	31	1	1787	1	BCAS3	17	59112065	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	605295	59112065	22083145	16960	19106											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	40					0	0	1	0	0	T	59482854	C	T	59482854	3	4	22	1	0	0	0	0	1	0	0	0	15715	768	27	1	1365	1	TBX2	17	59482854	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	370789	59482854	21712356	16961	19107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000240335.1_Missense_Mutation_p.S488N|TBX4_ENST00000589449.1_3'UTR			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													69	300					0	0	1	0	0	A	59560702	G	A	59560702	3	1	22	1	0	0	0	0	1	0	0	0	15720	971	34	2	1493	2	TBX4	17	59560702	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77848	59560702	21634508	16962	19108											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													150	638					0	0	1	0	0	T	59668386	C	T	59668386	4	4	22	1	0	0	0	0	0	1	0	0	10182	740	26	2	495	2	NACA2	17	59668386	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107684	59668386	21526824	16963	19109											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					43	191					0	0	1	0	0	A	59760907	G	A	59760907	3	1	22	1	0	0	0	0	1	0	0	0	1516	971	34	2	253	2	BRIP1	17	59760907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92521	59760907	21434303	16964	19110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_065799.1	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													8	248					0	0	1	0	0	T	59947320	C	T	59947320	2	4	22	1	0	0	0	0	0	0	0	1	7822	912	32	2		2	INTS2	17	59947320	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186413	59947320	21247890	16965	19111											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	267					0	0	1	0	0	T	60028352	C	T	60028352	3	4	22	1	0	0	0	0	1	0	0	0	9480	565	20	2	411	2	MED13	17	60028352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81032	60028352	21166858	16966	19112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	210					0	0	1	0	0	T	60042453	C	T	60042453	2	4	22	1	0	0	0	0	0	0	0	1	9480	726	26	2		2	MED13	17	60042453	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14101	60042453	21152757	16967	19113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	600					0	0	1	0	0	T	60062374	C	T	60062374	2	4	22	1	0	0	0	0	0	0	0	1	9480	523	19	1		1	MED13	17	60062374	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19921	60062374	21132836	16968	19114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	222					6.08268e-21	6.83416e-21	1	1	0	A	60484019	C	A	60484019	3	1	22	1	0	0	0	0	1	0	0	0	4961	913	32	2	857	2	EFCAB3	17	60484019	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	421645	60484019	20711191	16969	19115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	199					0	0	1	0	0	C	60503706	A	C	60503706	3	2	22	1	0	0	0	0	1	0	0	0	9549	11	1	3	259	3	METTL2A	17	60503706	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19687	60503706	20691504	16970	19116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	62					0	0	1	0	0	A	60504005	G	A	60504005	3	1	22	1	0	0	0	0	1	0	0	0	9549	1058	37	1	558	1	METTL2A	17	60504005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299	60504005	20691205	16971	19117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	632					0	0	1	0	0	G	60518112	A	G	60518112	2	3	22	1	0	0	0	0	0	0	0	1	9549	175	7	3		3	METTL2A	17	60518112	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14107	60518112	20677098	16972	19118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	184					0	0	1	0	0	T	60522267	C	T	60522267	2	4	22	1	0	0	0	0	0	0	0	1	9549	547	19	1		1	METTL2A	17	60522267	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4155	60522267	20672943	16973	19119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000326270.9_Missense_Mutation_p.S289I|TLK2_ENST00000343388.7_Missense_Mutation_p.S257I|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													53	236					9.52127e-25	1.09014e-24	1	1	0	T	60642396	G	T	60642396	3	4	22	1	0	0	0	0	1	0	0	0	16004	971	34	2	904	2	TLK2	17	60642396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120129	60642396	20552814	16974	19120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000326270.9_Silent_p.Q692Q|TLK2_ENST00000343388.7_Silent_p.Q638Q|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													58	243					0	0	1	0	0	G	60685440	A	G	60685440	2	3	22	1	0	0	0	0	0	0	0	1	16004	69	3	3		3	TLK2	17	60685440	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	43044	60685440	20509770	16975	19121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000326270.9_Silent_p.K707K|TLK2_ENST00000343388.7_Silent_p.K653K|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													37	192					0	0	1	0	0	A	60685485	G	A	60685485	2	1	22	1	0	0	0	0	0	0	0	1	16004	962	34	2		2	TLK2	17	60685485	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	60685485	20509725	16976	19122											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	295					0	0	1	0	0	T	60744886	C	T	60744886	3	4	22	1	0	0	0	0	1	0	0	0	9807	507	18	2	1131	2	MRC2	17	60744886	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59401	60744886	20450324	16977	19123											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	115					0	0	1	0	0	A	60757183	G	A	60757183	3	1	22	1	0	0	0	0	1	0	0	0	9807	1059	37	1	2272	1	MRC2	17	60757183	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12297	60757183	20438027	16978	19124											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	110					0	0	1	0	0	T	60767314	C	T	60767314	2	4	22	1	0	0	0	0	0	0	0	1	9807	535	19	1		1	MRC2	17	60767314	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10131	60767314	20427896	16979	19125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MARCH10_ENST00000456609.2_Missense_Mutation_p.R195M|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.R233M|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.R195M			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													246	1081					6.07341e-79	7.75994e-79	1	1	0	A	60814645	C	A	60814645	3	1	22	1	0	0	0	0	1	0	0	0	9349	681	24	2	1866	2	MARCH10	17	60814645	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47331	60814645	20380565	16980	19126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	157					0	0	1	0	0	G	61417467	T	G	61417467	2	3	22	1	0	0	0	0	0	0	0	1	15602	1799	63	3		3	TANC2	17	61417467	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	602822	61417467	19777743	16981	19127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TANC2_ENST00000389520.4_Missense_Mutation_p.Q952H|RP11-269G24.3_ENST00000583552.1_RNA|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													10	100					0.00010058	0.000102273	1	1	0	T	61473130	G	T	61473130	3	4	22	1	0	0	0	0	1	0	0	0	15602	1020	36	2	2918	2	TANC2	17	61473130	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55663	61473130	19722080	16982	19128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TANC2_ENST00000389520.4_Missense_Mutation_p.S1468T|RP11-269G24.3_ENST00000583552.1_RNA	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													62	262					0	0	1	0	0	A	61497715	T	A	61497715	3	1	22	1	0	0	0	0	1	0	0	0	15602	1551	54	5	4470	5	TANC2	17	61497715	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24585	61497715	19697495	16983	19129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TANC2_ENST00000389520.4_Missense_Mutation_p.A1919T|RP11-269G24.3_ENST00000583552.1_RNA	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													67	261					0	0	1	0	0	A	61499068	G	A	61499068	3	1	22	1	0	0	0	0	1	0	0	0	15602	1319	46	2	5823	2	TANC2	17	61499068	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1353	61499068	19696142	16984	19130											
ACE	1636	broad.mit.edu	37	chr17	61560026	61560026	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctgcacaaaatcggcctgCtggaccgtgtcaccaatgac	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61560026C>A	ENST00000290866.4	+	8	1342	c.1318C>A	c.(1318-1320)Ctg>Atg	p.L440M	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.L440M|ACE_ENST00000538928.1_Missense_Mutation_p.L440M	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	440	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)	AATCGGCCTGCTGGACCGTGT	0.652													26	541					1.5548e-18	1.72663e-18	1	1	0	A	61560026	C	A	61560026	3	1	22	1	0	0	0	0	1	0	0	0	136	796	28	2	1348	2	ACE	17	61560026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60958	61560026	19635184	16985	19131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000580652.1_Missense_Mutation_p.A231V|KCNH6_ENST00000581784.1_Missense_Mutation_p.A231V|KCNH6_ENST00000314672.5_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													81	354					0	0	1	0	0	T	61611263	C	T	61611263	3	4	22	1	0	0	0	0	1	0	0	0	8080	768	27	1	710	1	KCNH6	17	61611263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51237	61611263	19583947	16986	19132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000580652.1_Missense_Mutation_p.A399V|KCNH6_ENST00000581784.1_Missense_Mutation_p.A399V|KCNH6_ENST00000314672.5_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													81	324					0	0	1	0	0	T	61613124	C	T	61613124	3	4	22	1	0	0	0	0	1	0	0	0	8080	797	28	2	1218	2	KCNH6	17	61613124	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1861	61613124	19582086	16987	19133											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000580652.1_Missense_Mutation_p.R427W|KCNH6_ENST00000581784.1_Intron|KCNH6_ENST00000314672.5_Missense_Mutation_p.R427W|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													36	391					0	0	1	0	0	T	61613207	C	T	61613207	3	4	22	1	0	0	0	0	1	0	0	0	8080	759	27	1	1301	1	KCNH6	17	61613207	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83	61613207	19582003	16988	19134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392950.4_3'UTR|STRADA_ENST00000375840.4_Silent_p.D352D|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000582137.1_3'UTR|RP11-51F16.8_ENST00000580553.1_3'UTR	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													43	218					0	0	1	0	0	A	61781025	G	A	61781025	2	1	22	1	0	0	0	0	0	0	0	1	15380	1252	44	2		2	STRADA	17	61781025	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	167818	61781025	19414185	16989	19135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000580039.1_5'UTR|STRADA_ENST00000336174.6_Silent_p.L288L|STRADA_ENST00000447001.3_Silent_p.L244L|STRADA_ENST00000579340.1_Silent_p.C172C|STRADA_ENST00000375840.4_Silent_p.L230L|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000582137.1_Silent_p.L259L|RP11-51F16.8_ENST00000580553.1_3'UTR	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													57	244					0	0	1	0	0	A	61781939	G	A	61781939	2	1	22	1	0	0	0	0	0	0	0	1	15380	962	34	2		2	STRADA	17	61781939	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	914	61781939	19413271	16990	19136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													200	794					0	0	1	0	0	A	61838630	G	A	61838630	3	1	22	1	0	0	0	0	1	0	0	0	2838	942	33	2	858	2	CCDC47	17	61838630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56691	61838630	19356580	16991	19137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457800.2_Missense_Mutation_p.N572T|DDX42_ENST00000359353.5_Missense_Mutation_p.N453T|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													59	229					0	0	1	0	0	C	61890627	A	C	61890627	3	2	22	1	0	0	0	0	1	0	0	0	4385	43	2	3	1769	3	DDX42	17	61890627	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51997	61890627	19304583	16992	19138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	339					2.40885e-21	2.71177e-21	1	1	0	A	61902919	C	A	61902919	3	1	22	1	0	0	0	0	1	0	0	0	6124	595	21	2	2230	2	FTSJ3	17	61902919	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12292	61902919	19292291	16993	19139											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													230	990					1.65695e-73	2.10936e-73	1	1	0	A	61903629	C	A	61903629	3	1	22	1	0	0	0	0	1	0	0	0	6124	797	28	2	2406	2	FTSJ3	17	61903629	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	710	61903629	19291581	16994	19140											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000580864.1_Missense_Mutation_p.R326W|PSMC5_ENST00000375812.4_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													9	482					0	0	1	0	0	T	61908896	C	T	61908896	3	4	22	1	0	0	0	0	1	0	0	0	12739	875	31	1	1038	1	PSMC5	17	61908896	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5267	61908896	19286314	16995	19141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	319					0	0	1	0	0	T	61910711	C	T	61910711	3	4	22	1	0	0	0	0	1	0	0	0	14832	884	31	1	220	1	SMARCD2	17	61910711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1815	61910711	19284499	16996	19142											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	382					0	0	1	0	0	A	61910761	G	A	61910761	3	1	22	1	0	0	0	0	1	0	0	0	14832	1174	41	2	270	2	SMARCD2	17	61910761	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50	61910761	19284449	16997	19143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346606.6_Intron|CSHL1_ENST00000309894.5_Silent_p.P31P|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000561003.1_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	31						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GCCTGGATAAGGGAACGGTTT	0.587													93	516					2.5963e-48	3.20365e-48	1	1	0	T	61988202	G	T	61988202	2	4	22	1	0	0	0	0	0	0	0	1	3967	987	35	2		2	CSHL1	17	61988202	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77441	61988202	19207008	16998	19144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								34	200					0	0	1	0	0	A	62007651	G	A	62007651	2	1	22	1	0	0	0	0	0	0	0	1	3059	1103	39	1		1	CD79B	17	62007651	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19449	62007651	19187559	16999	19145											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	117					0	0	1	0	0	T	62021184	C	T	62021184	2	4	22	1	0	0	0	0	0	0	0	1	13974	639	23	1		1	SCN4A	17	62021184	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13533	62021184	19174026	17000	19146	124	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	122					0	0	1	0	0	A	62021185	G	A	62021185	3	1	22	1	0	0	0	0	1	0	0	0	13974	1145	40	1	1584	1	SCN4A	17	62021185	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1	62021185	19174025	17001	19147	124	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	108					0	0	1	0	0	A	62026114	G	A	62026114	3	1	22	1	0	0	0	0	1	0	0	0	13974	1087	38	1	2545	1	SCN4A	17	62026114	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4929	62026114	19169096	17002	19148											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	385					1.12176e-53	1.39864e-53	1	1	0	A	62045589	C	A	62045589	3	1	22	1	0	0	0	0	1	0	0	0	13974	681	24	2	4756	2	SCN4A	17	62045589	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19475	62045589	19149621	17003	19149											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000449662.2_Silent_p.L252L|ICAM2_ENST00000578379.1_Silent_p.L151L|ICAM2_ENST00000579687.1_Silent_p.L252L|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579788.1_Silent_p.L252L|ICAM2_ENST00000578892.1_Silent_p.L228L|ICAM2_ENST00000418105.1_Silent_p.L252L	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													30	148					0	0	1	0	0	T	62080179	C	T	62080179	2	4	22	1	0	0	0	0	0	0	0	1	7524	709	25	2		2	ICAM2	17	62080179	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34590	62080179	19115031	17004	19150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449662.2_Silent_p.F27F|ICAM2_ENST00000578379.1_5'UTR|ICAM2_ENST00000579687.1_Silent_p.F27F|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579788.1_Silent_p.F27F|ICAM2_ENST00000578892.1_Silent_p.F27F|ICAM2_ENST00000418105.1_Silent_p.F27F	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													38	185					0	0	1	0	0	A	62082714	G	A	62082714	2	1	22	1	0	0	0	0	0	0	0	1	7524	1049	37	1		1	ICAM2	17	62082714	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2535	62082714	19112496	17005	19151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62125340C>T	ENST00000433197.2	-	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	803	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													26	110					0	0	1	0	0	T	62125340	C	T	62125340	3	4	22	1	0	0	0	0	1	0	0	0	5265	536	19	1	542	1	ERN1	17	62125340	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42626	62125340	19069870	17006	19152											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62130142G>A	ENST00000433197.2	-	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	751	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													30	148					0	0	1	0	0	A	62130142	G	A	62130142	3	1	22	1	0	0	0	0	1	0	0	0	5265	1232	43	2	706	2	ERN1	17	62130142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4802	62130142	19065068	17007	19153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62135346T>C	ENST00000433197.2	-	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	405					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													14	32					0	0	1	0	0	C	62135346	T	C	62135346	3	2	22	1	0	0	0	0	1	0	0	0	5265	1725	60	3	1763	3	ERN1	17	62135346	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5204	62135346	19059864	17008	19154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000584379.1_Missense_Mutation_p.R745H|TEX2_ENST00000583097.1_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													75	332					0	0	1	0	0	T	62265718	C	T	62265718	3	4	22	1	0	0	0	0	1	0	0	0	15840	768	27	1	1181	1	TEX2	17	62265718	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130372	62265718	18929492	17009	19155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000584379.1_Missense_Mutation_p.A521T|TEX2_ENST00000583097.1_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													159	613					0	0	1	0	0	T	62290017	C	T	62290017	3	4	22	1	0	0	0	0	1	0	0	0	15840	710	25	2	1887	2	TEX2	17	62290017	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24299	62290017	18905193	17010	19156											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000584379.1_Missense_Mutation_p.K383N|TEX2_ENST00000583097.1_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													86	425					0	0	1	0	0	G	62290429	T	G	62290429	3	3	22	1	0	0	0	0	1	0	0	0	15840	1838	64	3	2299	3	TEX2	17	62290429	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	412	62290429	18904781	17011	19157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000584379.1_Silent_p.L116L|TEX2_ENST00000583097.1_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													24	793					0	0	1	0	0	A	62291232	G	A	62291232	2	1	22	1	0	0	0	0	0	0	0	1	15840	962	34	2		2	TEX2	17	62291232	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	803	62291232	18903978	17012	19158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								142	527					0	0	1	0	0	G	62496398	T	G	62496398	3	3	22	1	0	0	0	0	1	0	0	0	4390	1432	50	3	360	3	DDX5	17	62496398	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	205166	62496398	18698812	17013	19159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								121	489					1.24258e-46	1.52757e-46	1	1	0	A	62499117	C	A	62499117	3	1	22	1	0	0	0	0	1	0	0	0	4390	710	25	2	958	2	DDX5	17	62499117	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2719	62499117	18696093	17014	19160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000339474.5_Nonsense_Mutation_p.Q225*|LRRC37A3_ENST00000334962.5_Nonsense_Mutation_p.Q84*|LRRC37A3_ENST00000400877.3_Nonsense_Mutation_p.Q145*	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													237	1261					0	0	1	0	0	A	62856945	G	A	62856945	4	1	22	1	0	0	0	0	0	1	0	0	9038	1328	46	2	1601	2	LRRC37A3	17	62856945	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	357828	62856945	18338265	17015	19161											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	341					0	0	1	0	0	T	63010504	C	T	63010504	2	4	22	1	0	0	0	0	0	0	0	1	6543	610	22	2		2	GNA13	17	63010504	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153559	63010504	18184706	17016	19162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	225					0	0	1	0	0	C	63204111	A	C	63204111	3	2	22	1	0	0	0	0	1	0	0	0	13363	11	1	3	1337	3	RGS9	17	63204111	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	193607	63204111	17991099	17017	19163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				11	50					3.07112e-06	3.16074e-06	1	1	0	T	63533929	G	T	63533929	3	4	22	1	0	0	0	0	1	0	0	0	1235	971	34	2	1330	2	AXIN2	17	63533929	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	329818	63533929	17661281	17018	19164											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	331					0	0	1	0	0	T	64216739	C	T	64216739	2	4	22	1	0	0	0	0	0	0	0	1	801	871	31	1		1	APOH	17	64216739	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	682810	64216739	16978471	17019	19165											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	206					0	0	1	0	0	T	64222213	C	T	64222213	3	4	22	1	0	0	0	0	1	0	0	0	801	922	32	2	790	2	APOH	17	64222213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5474	64222213	16972997	17020	19166											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_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													14	412					0	0	1	0	0	C	64880810	T	C	64880810	3	2	22	1	0	0	0	0	1	0	0	0	2578	1580	55	3	616	3	CACNG5	17	64880810	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	658597	64880810	16314400	17021	19167											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_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													56	286					0	0	1	0	0	A	64881064	G	A	64881064	3	1	22	1	0	0	0	0	1	0	0	0	2578	971	34	2	870	2	CACNG5	17	64881064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	254	64881064	16314146	17022	19168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	324					0	0	1	0	0	C	64881352	T	C	64881352	3	2	22	1	0	0	0	0	1	0	0	0	2578	1580	55	3	1158	3	CACNG5	17	64881352	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	288	64881352	16313858	17023	19169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	563					0	0	1	0	0	A	65026808	G	A	65026808	2	1	22	1	0	0	0	0	0	0	0	1	2577	1132	40	1		1	CACNG4	17	65026808	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145456	65026808	16168402	17024	19170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	262					0	0	1	0	0	G	65051341	T	G	65051341	3	3	22	1	0	0	0	0	1	0	0	0	2574	1725	60	3	437	3	CACNG1	17	65051341	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24533	65051341	16143869	17025	19171											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_055692.2			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)					CGGGGATGAAAAGTTGAAAGA	0.473													101	461					0	0	1	0	0	C	65083046	A	C	65083046	3	2	22	1	0	0	0	0	1	0	0	0	7090	14	1	3	443	3	HELZ	17	65083046	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31705	65083046	16112164	17026	19172											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_055692.2			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)					CACCTACTTGATGATAGCTTC	0.483													74	843					0	0	1	0	0	G	65144688	A	G	65144688	3	3	22	1	0	0	0	0	1	0	0	0	7090	333	12	3	3266	3	HELZ	17	65144688	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	61642	65144688	16050522	17027	19173											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_055692.2			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)					CCTGTTAGGACTCCATGGTAT	0.358													73	327					0	0	1	0	0	T	65162603	C	T	65162603	3	4	22	1	0	0	0	0	1	0	0	0	7090	565	20	2	4018	2	HELZ	17	65162603	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17915	65162603	16032607	17028	19174											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	321					0	0	1	0	0	G	65337095	A	G	65337095	3	3	22	1	0	0	0	0	1	0	0	0	12744	101	4	3	139	3	PSMD12	17	65337095	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	174492	65337095	15858115	17029	19175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	140					0	0	1	0	0	T	65353435	C	T	65353435	3	4	22	1	0	0	0	0	1	0	0	0	12744	652	23	1	1125	1	PSMD12	17	65353435	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16340	65353435	15841775	17030	19176											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65671660T>C	ENST00000580974.1	+	8	1378		c.e8+2		PITPNC1_ENST00000335257.6_Splice_Site|PITPNC1_ENST00000299954.9_Splice_Site|PITPNC1_ENST00000581322.1_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													75	349					0	0	1	0	0	C	65671660	T	C	65671660	5	2	22	1	0	0	0	0	0	0	1	0	11997	1652	57	3	714	3	PITPNC1	17	65671660	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	318225	65671660	15523550	17031	19177											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000581966.1_3'UTR|NOL11_ENST00000535137.1_5'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)	11	195					0.000673444	0.000681208	1	1	0	A	65714073	C	A	65714073	3	1	22	1	0	0	0	0	1	0	0	0	10568	796	28	2	12	2	NOL11	17	65714073	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42413	65714073	15481137	17032	19178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000306378.6_Missense_Mutation_p.D482Y|BPTF_ENST00000424123.3_Missense_Mutation_p.D343Y|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													101	505					2.76703e-59	3.4739e-59	1	1	0	T	65862587	G	T	65862587	3	4	22	1	0	0	0	0	1	0	0	0	1497	942	33	2	1454	2	BPTF	17	65862587	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148514	65862587	15332623	17033	19179	125	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000306378.6_Missense_Mutation_p.E484K|BPTF_ENST00000424123.3_Missense_Mutation_p.E345K|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													104	530					0	0	1	0	0	A	65862593	G	A	65862593	3	1	22	1	0	0	0	0	1	0	0	0	1497	943	33	2	1460	2	BPTF	17	65862593	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6	65862593	15332617	17034	19180	125	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000306378.6_Missense_Mutation_p.S957N|BPTF_ENST00000424123.3_Missense_Mutation_p.S944N|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													26	116					0	0	1	0	0	A	65905755	G	A	65905755	3	1	22	1	0	0	0	0	1	0	0	0	1497	1029	36	2	3294	2	BPTF	17	65905755	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43162	65905755	15289455	17035	19181											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000306378.6_Missense_Mutation_p.S1301N|BPTF_ENST00000424123.3_Missense_Mutation_p.S1288N|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													50	370					0	0	1	0	0	A	65907902	G	A	65907902	3	1	22	1	0	0	0	0	1	0	0	0	1497	971	34	2	4330	2	BPTF	17	65907902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2147	65907902	15287308	17036	19182											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000306378.6_Nonsense_Mutation_p.R1919*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R1906*|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													32	176					0	0	1	0	0	T	65924474	C	T	65924474	4	4	22	1	0	0	0	0	0	1	0	0	1497	528	19	1	6203	1	BPTF	17	65924474	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16572	65924474	15270736	17037	19183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000306378.6_Nonsense_Mutation_p.R2858*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R2702*|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													47	266					0	0	1	0	0	T	65971920	C	T	65971920	4	4	22	1	0	0	0	0	0	1	0	0	1497	528	19	1	9064	1	BPTF	17	65971920	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47446	65971920	15223290	17038	19184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	259					0	0	1	0	0	A	66339816	G	A	66339816	3	1	22	1	0	0	0	0	1	0	0	0	991	1203	42	2	296	2	ARSG	17	66339816	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	367896	66339816	14855394	17039	19185											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	160					0	0	1	0	0	A	66425048	G	A	66425048	3	1	22	1	0	0	0	0	1	0	0	0	17430	1087	38	1	361	1	WIPI1	17	66425048	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85232	66425048	14770162	17040	19186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536854.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.A160T|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000586397.1_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				81	488					0	0	1	0	0	A	66520194	G	A	66520194	3	1	22	1	0	0	0	0	1	0	0	0	12555	1087	38	1	492	1	PRKAR1A	17	66520194	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95146	66520194	14675016	17041	19187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	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													32	71					2.61193e-14	2.83483e-14	1	1	0	A	66533665	C	A	66533665	3	1	22	1	0	0	0	0	1	0	0	0	5569	565	20	2	50	2	FAM20A	17	66533665	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13471	66533665	14661545	17042	19188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	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													41	265					1.76056e-25	2.02043e-25	1	1	0	T	66535523	G	T	66535523	3	4	22	1	0	0	0	0	1	0	0	0	5569	1174	41	2	317	2	FAM20A	17	66535523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1858	66535523	14659687	17043	19189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	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													31	158					0	0	1	0	0	C	66538300	T	C	66538300	3	2	22	1	0	0	0	0	1	0	0	0	5569	1725	60	3	710	3	FAM20A	17	66538300	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2777	66538300	14656910	17044	19190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	115					0	0	1	0	0	G	66596565	A	G	66596565	2	3	22	1	0	0	0	0	0	0	0	1	5569	175	7	3		3	FAM20A	17	66596565	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	58265	66596565	14598645	17045	19191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	218					0	0	1	0	0	G	66864494	T	G	66864494	3	3	22	1	0	0	0	0	1	0	0	0	38	1841	64	3	158	3	ABCA8	17	66864494	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	267929	66864494	14330716	17046	19192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	233					0	0	1	0	0	T	66891152	C	T	66891152	3	4	22	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	17047	19193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	126					1.36161e-19	1.52027e-19	1	1	0	T	66903959	G	T	66903959	3	4	22	1	0	0	0	0	1	0	0	0	38	1232	43	2	2757	2	ABCA8	17	66903959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12807	66903959	14291251	17048	19194											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	290					0	0	1	0	0	C	66914273	T	C	66914273	2	2	22	1	0	0	0	0	0	0	0	1	38	1606	56	3		3	ABCA8	17	66914273	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10314	66914273	14280937	17049	19195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	190					0	0	1	0	0	T	66925243	C	T	66925243	3	4	22	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	17050	19196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	203					1.17739e-12	1.26592e-12	1	1	0	A	66925263	C	A	66925263	3	1	22	1	0	0	0	0	1	0	0	0	38	913	32	2	3817	2	ABCA8	17	66925263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	66925263	14269947	17051	19197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	399					0	0	1	0	0	T	66928609	C	T	66928609	3	4	22	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	17052	19198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	404					5.14759e-42	6.26155e-42	1	1	0	A	66978725	C	A	66978725	3	1	22	1	0	0	0	0	1	0	0	0	39	680	24	2	188	2	ABCA9	17	66978725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50116	66978725	14216485	17053	19199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	335					0	0	1	0	0	C	66981212	T	C	66981212	2	2	22	1	0	0	0	0	0	0	0	1	39	1567	55	3		3	ABCA9	17	66981212	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2487	66981212	14213998	17054	19200											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	271					0	0	1	0	0	A	66987055	G	A	66987055	3	1	22	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	17055	19201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	205					0	0	1	0	0	T	66989177	C	T	66989177	3	4	22	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	17056	19202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453985.2_Missense_Mutation_p.M1088I|ABCA9-AS1_ENST00000458677.1_RNA	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													37	475					0	0	1	0	0	T	67004260	C	T	67004260	3	4	22	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	17057	19203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67012395T>C	ENST00000340001.4	-	22	3249	c.3039_splice	c.e22+1	p.E1013_splice	ABCA9_ENST00000370732.2_Splice_Site_p.E1013_splice|ABCA9_ENST00000453985.2_Splice_Site_p.E1013_splice|ABCA9-AS1_ENST00000458677.1_RNA	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													27	243					0	0	1	0	0	C	67012395	T	C	67012395	5	2	22	1	0	0	0	0	0	0	1	0	39	1797	62	3	1908	3	ABCA9	17	67012395	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8135	67012395	14182815	17058	19204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	508					0	0	1	0	0	G	67016648	A	G	67016648	2	3	22	1	0	0	0	0	0	0	0	1	39	59	3	3		3	ABCA9	17	67016648	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4253	67016648	14178562	17059	19205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	83					0	0	1	0	0	T	67020491	C	T	67020491	2	4	22	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	17060	19206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													236	975					1.46484e-98	1.88337e-98	1	1	0	T	67022579	G	T	67022579	3	4	22	1	0	0	0	0	1	0	0	0	39	962	34	2	2890	2	ABCA9	17	67022579	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2088	67022579	14172631	17061	19207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	494					0	0	1	0	0	T	67029942	C	T	67029942	3	4	22	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	17062	19208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	132					0	0	1	0	0	C	67106975	T	C	67106975	3	2	22	1	0	0	0	0	1	0	0	0	36	1638	57	3	2706	3	ABCA6	17	67106975	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	77033	67106975	14088235	17063	19209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	185					0	0	1	0	0	G	67109448	T	G	67109448	3	3	22	1	0	0	0	0	1	0	0	0	36	1606	56	3	2997	3	ABCA6	17	67109448	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2473	67109448	14085762	17064	19210											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	355					3.32936e-07	3.45006e-07	1	1	0	A	67111029	C	A	67111029	3	1	22	1	0	0	0	0	1	0	0	0	36	680	24	2	3305	2	ABCA6	17	67111029	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1581	67111029	14084181	17065	19211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	207					0	0	1	0	0	T	67119474	C	T	67119474	3	4	22	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	17066	19212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	265					9.4991e-31	1.11549e-30	1	1	0	A	67215738	C	A	67215738	4	1	22	1	0	0	0	0	0	1	0	0	29	690	24	2	4289	2	ABCA10	17	67215738	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96264	67215738	13979472	17067	19213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	489					0	0	1	0	0	G	67266820	A	G	67266820	2	3	22	1	0	0	0	0	0	0	0	1	35	388	14	3		3	ABCA5	17	67266820	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51082	67266820	13928390	17068	19214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	187					1.67305e-13	1.80725e-13	1	1	0	A	67273834	C	A	67273834	3	1	22	1	0	0	0	0	1	0	0	0	35	797	28	2	2470	2	ABCA5	17	67273834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7014	67273834	13921376	17069	19215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	202					0	0	1	0	0	C	67285372	A	C	67285372	3	2	22	1	0	0	0	0	1	0	0	0	35	156	6	3	3184	3	ABCA5	17	67285372	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11538	67285372	13909838	17070	19216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67299047C>T	ENST00000392676.3	-	8	995	c.930_splice	c.e8-1	p.V311_splice	ABCA5_ENST00000588877.1_Splice_Site_p.V311_splice|ABCA5_ENST00000392677.2_Splice_Site_p.V311_splice			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													18	78					0	0	1	0	0	T	67299047	C	T	67299047	5	4	22	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	17071	19217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	166					0	0	1	0	0	G	67309352	T	G	67309352	3	3	22	1	0	0	0	0	1	0	0	0	35	1493	52	3	4888	3	ABCA5	17	67309352	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10305	67309352	13885858	17072	19218											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	128					0	0	1	0	0	A	67513640	G	A	67513640	5	1	22	1	0	0	0	0	0	0	1	0	9291	956	33	2	146	2	MAP2K6	17	67513640	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	204288	67513640	13681570	17073	19219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	372					0	0	1	0	0	A	67522730	G	A	67522730	3	1	22	1	0	0	0	0	1	0	0	0	9291	1058	37	1	799	1	MAP2K6	17	67522730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9090	67522730	13672480	17074	19220											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000586462.1_Missense_Mutation_p.I64V|KCNJ16_ENST00000283936.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000589377.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000392671.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000392670.1_Missense_Mutation_p.I25V			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													114	387					0	0	1	0	0	G	68128301	A	G	68128301	3	3	22	1	0	0	0	0	1	0	0	0	8094	217	8	3	75	3	KCNJ16	17	68128301	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	605571	68128301	13066909	17075	19221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000586462.1_Nonsense_Mutation_p.R74*|KCNJ16_ENST00000283936.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000589377.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000392671.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000392670.1_Nonsense_Mutation_p.R35*			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													42	563					0	0	1	0	0	T	68128331	C	T	68128331	4	4	22	1	0	0	0	0	0	1	0	0	8094	528	19	1	105	1	KCNJ16	17	68128331	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30	68128331	13066879	17076	19222											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	375					0	0	1	0	0	A	68171388	G	A	68171388	3	1	22	1	0	0	0	0	1	0	0	0	8095	1087	38	1	210	1	KCNJ2	17	68171388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43057	68171388	13023822	17077	19223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	372					0	0	1	0	0	T	71196797	A	T	71196797	3	4	22	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	17078	19224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	516					0	0	1	0	0	G	71197321	T	G	71197321	3	3	22	1	0	0	0	0	1	0	0	0	3680	1609	56	3	1381	3	COG1	17	71197321	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	524	71197321	9997889	17079	19225											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Silent_p.S147S|C17orf80_ENST00000268942.8_Silent_p.S147S|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000255557.4_Silent_p.S147S|C17orf80_ENST00000535032.2_Silent_p.S147S|C17orf80_ENST00000577615.1_Silent_p.S147S	NM_017941.4	NP_060411.2	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													92	420					0	0	1	0	0	C	71232062	T	C	71232062	2	2	22	1	0	0	0	0	0	0	0	1	1895	1538	54	3		3	C17orf80	17	71232062	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34741	71232062	9963148	17080	19226											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Silent_p.A169A|C17orf80_ENST00000268942.8_Silent_p.A169A|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000255557.4_Silent_p.A169A|C17orf80_ENST00000535032.2_Silent_p.A169A|C17orf80_ENST00000577615.1_Silent_p.A169A	NM_017941.4	NP_060411.2	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													102	439					0	0	1	0	0	C	71232128	T	C	71232128	2	2	22	1	0	0	0	0	0	0	0	1	1895	1567	55	3		3	C17orf80	17	71232128	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	66	71232128	9963082	17081	19227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.N312D|C17orf80_ENST00000268942.8_Missense_Mutation_p.N312D|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000255557.4_Missense_Mutation_p.N312D|C17orf80_ENST00000535032.2_Missense_Mutation_p.N312D|C17orf80_ENST00000577615.1_Missense_Mutation_p.N312D	NM_017941.4	NP_060411.2	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													34	177					0	0	1	0	0	G	71232555	A	G	71232555	3	3	22	1	0	0	0	0	1	0	0	0	1895	14	1	3	936	3	C17orf80	17	71232555	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	427	71232555	9962655	17082	19228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.Y472C|C17orf80_ENST00000268942.8_Missense_Mutation_p.Y472C|C17orf80_ENST00000255557.4_Missense_Mutation_p.Y472C|C17orf80_ENST00000535032.2_Missense_Mutation_p.Y472C|C17orf80_ENST00000577615.1_Missense_Mutation_p.Y472C	NM_017941.4	NP_060411.2	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													46	226					0	0	1	0	0	G	71233036	A	G	71233036	3	3	22	1	0	0	0	0	1	0	0	0	1895	391	14	3	1417	3	C17orf80	17	71233036	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	481	71233036	9962174	17083	19229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000581014.1_Missense_Mutation_p.R16C|CDC42EP4_ENST00000439510.2_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													37	138					0	0	1	0	0	A	71282594	G	A	71282594	3	1	22	1	0	0	0	0	1	0	0	0	3100	1087	38	1	1028	1	CDC42EP4	17	71282594	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49558	71282594	9912616	17084	19230											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													194	874					0	0	1	0	0	A	71354234	G	A	71354234	2	1	22	1	0	0	0	0	0	0	0	1	14023	1048	37	1		1	SDK2	17	71354234	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71640	71354234	9840976	17085	19231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	75					3.86212e-05	3.93988e-05	1	1	0	T	71364628	G	T	71364628	2	4	22	1	0	0	0	0	0	0	0	1	14023	987	35	2		2	SDK2	17	71364628	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10394	71364628	9830582	17086	19232											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	217					0	0	1	0	0	A	71398243	G	A	71398243	3	1	22	1	0	0	0	0	1	0	0	0	14023	1261	44	2	4104	2	SDK2	17	71398243	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33615	71398243	9796967	17087	19233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	218					0	0	1	0	0	A	71398273	G	A	71398273	3	1	22	1	0	0	0	0	1	0	0	0	14023	1203	42	2	4134	2	SDK2	17	71398273	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30	71398273	9796937	17088	19234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	468					0	0	1	0	0	A	71418553	G	A	71418553	2	1	22	1	0	0	0	0	0	0	0	1	14023	991	35	2		2	SDK2	17	71418553	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20280	71418553	9776657	17089	19235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534346.1_3'UTR|TTYH2_ENST00000529107.1_Missense_Mutation_p.L198F	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													97	407					0	0	1	0	0	T	72239532	C	T	72239532	3	4	22	1	0	0	0	0	1	0	0	0	16802	797	28	2	673	2	TTYH2	17	72239532	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	820979	72239532	8955678	17090	19236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000534346.1_3'UTR|TTYH2_ENST00000529107.1_Silent_p.C206C	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													96	445					0	0	1	0	0	T	72239558	C	T	72239558	2	4	22	1	0	0	0	0	0	0	0	1	16802	747	26	2		2	TTYH2	17	72239558	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26	72239558	8955652	17091	19237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000307504.5_Silent_p.I200I|DNAI2_ENST00000582036.1_Silent_p.I343I|DNAI2_ENST00000446837.2_Silent_p.I343I|DNAI2_ENST00000311014.6_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				69	310					2.25582e-47	2.77644e-47	1	1	0	A	72301399	C	A	72301399	2	1	22	1	0	0	0	0	0	0	0	1	4637	903	32	2		2	DNAI2	17	72301399	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61841	72301399	8893811	17092	19238											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000307504.5_Intron|DNAI2_ENST00000582036.1_Silent_p.A555A|DNAI2_ENST00000446837.2_Silent_p.A567A|DNAI2_ENST00000311014.6_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				12	98					0	0	1	0	0	T	72308348	C	T	72308348	2	4	22	1	0	0	0	0	0	0	0	1	4637	581	21	2		2	DNAI2	17	72308348	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6949	72308348	8886862	17093	19239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	146					0	0	1	0	0	T	72339244	C	T	72339244	3	4	22	1	0	0	0	0	1	0	0	0	8324	739	26	2	419	2	KIF19	17	72339244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30896	72339244	8855966	17094	19240											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	174					0	0	1	0	0	T	72345379	C	T	72345379	2	4	22	1	0	0	0	0	0	0	0	1	8324	874	31	1		1	KIF19	17	72345379	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6135	72345379	8849831	17095	19241											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	133					0	0	1	0	0	T	72346711	C	T	72346711	3	4	22	1	0	0	0	0	1	0	0	0	8324	739	26	2	1427	2	KIF19	17	72346711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1332	72346711	8848499	17096	19242											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	285					3.57465e-26	4.11543e-26	1	1	0	A	72435964	C	A	72435964	3	1	22	1	0	0	0	0	1	0	0	0	6767	680	24	2	198	2	GPRC5C	17	72435964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89253	72435964	8759246	17097	19243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	264					0	0	1	0	0	A	72436648	G	A	72436648	3	1	22	1	0	0	0	0	1	0	0	0	6767	1377	48	2	882	2	GPRC5C	17	72436648	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	684	72436648	8758562	17098	19244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	290					6.06247e-24	6.9123e-24	1	1	0	A	72439974	C	A	72439974	3	1	22	1	0	0	0	0	1	0	0	0	6767	507	18	2	1222	2	GPRC5C	17	72439974	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3326	72439974	8755236	17099	19245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392625.3_Intron|CD300A_ENST00000577511.1_Nonsense_Mutation_p.W109*|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													15	86					0	0	1	0	0	A	72477915	G	A	72477915	4	1	22	1	0	0	0	0	0	1	0	0	3018	1212	42	2	739	2	CD300A	17	72477915	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37941	72477915	8717295	17100	19246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	488					0	0	1	0	0	C	72588204	T	C	72588204	3	2	22	1	0	0	0	0	1	0	0	0	1892	1667	58	3	21	3	C17orf77	17	72588204	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	110289	72588204	8607006	17101	19247											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CD300LF_ENST00000581500.1_Missense_Mutation_p.A146S|CD300LF_ENST00000326165.6_Splice_Site|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000464910.1_Splice_Site|CD300LF_ENST00000343125.4_Splice_Site|CD300LF_ENST00000301573.9_Splice_Site|CD300LF_ENST00000469092.1_Splice_Site|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000583937.1_Missense_Mutation_p.A143S			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													49	308					1.64591e-14	1.78884e-14	1	1	0	A	72699238	C	A	72699238	3	1	22	1	0	0	0	0	1	0	0	0	3023	811	28	2	510	2	CD300LF	17	72699238	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111034	72699238	8495972	17102	19248											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CD300LF_ENST00000581500.1_Missense_Mutation_p.G33D|CD300LF_ENST00000326165.6_Missense_Mutation_p.G30D|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000464910.1_Missense_Mutation_p.G33D|CD300LF_ENST00000343125.4_Missense_Mutation_p.G33D|CD300LF_ENST00000301573.9_Missense_Mutation_p.G30D|CD300LF_ENST00000361254.4_Missense_Mutation_p.G33D|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000583937.1_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													21	477					0	0	1	0	0	T	72700910	C	T	72700910	3	4	22	1	0	0	0	0	1	0	0	0	3023	739	26	2	807	2	CD300LF	17	72700910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1672	72700910	8494300	17103	19249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392615.5_Missense_Mutation_p.G9E|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000528438.1_Intron|RAB37_ENST00000340415.3_Intron	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													18	81					0	0	1	0	0	A	72733174	G	A	72733174	3	1	22	1	0	0	0	0	1	0	0	0	12979	1174	41	2	219	2	RAB37	17	72733174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32264	72733174	8462036	17104	19250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	347					0	0	1	0	0	A	72763082	G	A	72763082	2	1	22	1	0	0	0	0	0	0	0	1	14769	1306	46	2		2	SLC9A3R1	17	72763082	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29908	72763082	8432128	17105	19251											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	401					0	0	1	0	0	T	72764365	C	T	72764365	3	4	22	1	0	0	0	0	1	0	0	0	14769	507	18	2	896	2	SLC9A3R1	17	72764365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1283	72764365	8430845	17106	19252											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	167					0	0	1	0	0	T	72838586	C	T	72838586	2	4	22	1	0	0	0	0	0	0	0	1	6822	564	20	2		2	GRIN2C	17	72838586	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74221	72838586	8356624	17107	19253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	499					2.58158e-40	3.12921e-40	1	1	0	A	72842218	C	A	72842218	3	1	22	1	0	0	0	0	1	0	0	0	6822	564	20	2	1376	2	GRIN2C	17	72842218	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3632	72842218	8352992	17108	19254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	397					4.02929e-09	4.23443e-09	1	1	0	A	72843044	C	A	72843044	3	1	22	1	0	0	0	0	1	0	0	0	6822	913	32	2	1700	2	GRIN2C	17	72843044	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	826	72843044	8352166	17109	19255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	192					0	0	1	0	0	T	72843650	C	T	72843650	3	4	22	1	0	0	0	0	1	0	0	0	6822	652	23	1	1923	1	GRIN2C	17	72843650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	606	72843650	8351560	17110	19256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	73					0	0	1	0	0	C	72848164	T	C	72848164	3	2	22	1	0	0	0	0	1	0	0	0	6822	1551	54	3	2759	3	GRIN2C	17	72848164	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4514	72848164	8347046	17111	19257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000581530.1_Silent_p.R139R|FDXR_ENST00000293195.5_Silent_p.R139R|FDXR_ENST00000420580.2_Silent_p.R99R|FDXR_ENST00000413947.2_Silent_p.R170R|FDXR_ENST00000582944.1_Silent_p.R131R|FDXR_ENST00000544854.1_Silent_p.R87R|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000583917.1_Silent_p.R140R|FDXR_ENST00000442102.2_Silent_p.R182R			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													57	303					0	0	1	0	0	T	72862343	C	T	72862343	2	4	22	1	0	0	0	0	0	0	0	1	5840	610	22	2		2	FDXR	17	72862343	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14179	72862343	8332867	17112	19258											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000581530.1_Intron|FDXR_ENST00000293195.5_Intron|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000455107.2_Intron|FDXR_ENST00000413947.2_Intron|FDXR_ENST00000582944.1_Intron|FDXR_ENST00000544854.1_Intron|FDXR_ENST00000581969.1_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													7	61					2.0095e-06	2.07161e-06	1	1	0	A	72863044	C	A	72863044	3	1	22	1	0	0	0	0	1	0	0	0	5840	812	28	2		2	FDXR	17	72863044	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	701	72863044	8332166	17113	19259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_173477.2	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													18	447					0	0	1	0	0	A	72916088	G	A	72916088	2	1	22	1	0	0	0	0	0	0	0	1	17095	1368	48	2		2	USH1G	17	72916088	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53044	72916088	8279122	17114	19260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	143					0	0	1	0	0	A	72923852	G	A	72923852	3	1	22	1	0	0	0	0	1	0	0	0	11353	1029	36	2	616	2	OTOP2	17	72923852	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7764	72923852	8271358	17115	19261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	147					0	0	1	0	0	T	72937646	C	T	72937646	3	4	22	1	0	0	0	0	1	0	0	0	11354	759	27	1	238	1	OTOP3	17	72937646	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13794	72937646	8257564	17116	19262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538213.2_Missense_Mutation_p.A387T|SLC16A5_ENST00000329783.4_Missense_Mutation_p.A347T|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													73	321					0	0	1	0	0	A	73096797	G	A	73096797	3	1	22	1	0	0	0	0	1	0	0	0	14466	1087	38	1	1049	1	SLC16A5	17	73096797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	159151	73096797	8098413	17117	19263											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	119	428					0	0	1	0	0	A	73126651	G	A	73126651	3	1	22	1	0	0	0	0	1	0	0	0	10732	962	34	2	71	2	NT5C	17	73126651	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29854	73126651	8068559	17118	19264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541827.1_Missense_Mutation_p.L159M|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000245544.4_Missense_Mutation_p.L205M|NUP85_ENST00000579324.1_Missense_Mutation_p.L93M|NUP85_ENST00000579298.1_Intron			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													80	351					7.2426e-40	8.76758e-40	1	1	0	A	73221213	C	A	73221213	3	1	22	1	0	0	0	0	1	0	0	0	10818	796	28	2	643	2	NUP85	17	73221213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94562	73221213	7973997	17119	19265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541827.1_Missense_Mutation_p.G569V|NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000579324.1_Missense_Mutation_p.G503V|NUP85_ENST00000540768.1_Missense_Mutation_p.G218V|NUP85_ENST00000579298.1_Missense_Mutation_p.G570V	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													45	236					1.23103e-26	1.41986e-26	1	1	0	T	73231271	G	T	73231271	3	4	22	1	0	0	0	0	1	0	0	0	10818	1174	41	2	1914	2	NUP85	17	73231271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10058	73231271	7963939	17120	19266											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000582486.1_Intron|GGA3_ENST00000538886.1_Missense_Mutation_p.A577T|GGA3_ENST00000351904.7_Missense_Mutation_p.A666T|GGA3_ENST00000578348.1_Intron|GGA3_ENST00000582717.1_Missense_Mutation_p.A627T	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)	59	234					0	0	1	0	0	T	73234437	C	T	73234437	3	4	22	1	0	0	0	0	1	0	0	0	6396	768	27	1	168	1	GGA3	17	73234437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3166	73234437	7960773	17121	19267											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000582486.1_Missense_Mutation_p.L84M|GGA3_ENST00000538886.1_Missense_Mutation_p.L34M|GGA3_ENST00000537686.1_Intron|GGA3_ENST00000351904.7_Missense_Mutation_p.L123M|GGA3_ENST00000578348.1_Missense_Mutation_p.L34M|GGA3_ENST00000582717.1_Missense_Mutation_p.L84M	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													94	444					5.30763e-54	6.62094e-54	1	1	0	T	73239206	G	T	73239206	3	4	22	1	0	0	0	0	1	0	0	0	6396	962	34	2	1841	2	GGA3	17	73239206	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4769	73239206	7956004	17122	19268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000579208.1_Missense_Mutation_p.R741H|KIAA0195_ENST00000375248.5_Missense_Mutation_p.R1100H	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													69	576					0	0	1	0	0	A	73492836	G	A	73492836	3	1	22	1	0	0	0	0	1	0	0	0	8202	1145	40	1	3363	1	KIAA0195	17	73492836	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	253630	73492836	7702374	17123	19269											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000579208.1_Missense_Mutation_p.S848I|KIAA0195_ENST00000375248.5_Missense_Mutation_p.S1207I	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													76	317					2.73218e-42	3.32585e-42	1	1	0	T	73494356	G	T	73494356	3	4	22	1	0	0	0	0	1	0	0	0	8202	971	34	2	3696	2	KIAA0195	17	73494356	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1520	73494356	7700854	17124	19270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000579208.1_Missense_Mutation_p.A889T|KIAA0195_ENST00000375248.5_Missense_Mutation_p.A1248T	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													52	221					0	0	1	0	0	A	73494598	G	A	73494598	3	1	22	1	0	0	0	0	1	0	0	0	8202	1087	38	1	3822	1	KIAA0195	17	73494598	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242	73494598	7700612	17125	19271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000579208.1_Missense_Mutation_p.E954G|KIAA0195_ENST00000375248.5_Missense_Mutation_p.E1313G	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													12	321					0	0	1	0	0	G	73495073	A	G	73495073	3	3	22	1	0	0	0	0	1	0	0	0	8202	304	11	3	4026	3	KIAA0195	17	73495073	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	475	73495073	7700137	17126	19272	126	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000579208.1_Missense_Mutation_p.V956M|KIAA0195_ENST00000375248.5_Missense_Mutation_p.V1315M	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													35	303					0	0	1	0	0	A	73495078	G	A	73495078	3	1	22	1	0	0	0	0	1	0	0	0	8202	1145	40	1	4031	1	KIAA0195	17	73495078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	73495078	7700132	17127	19273	126	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													175	733					0	0	1	0	0	A	73497582	G	A	73497582	3	1	22	1	0	0	0	0	1	0	0	0	2685	1319	46	2	131	2	CASKIN2	17	73497582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2504	73497582	7697628	17128	19274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	56					0	0	1	0	0	C	73498457	T	C	73498457	3	2	22	1	0	0	0	0	1	0	0	0	2685	1696	59	3	922	3	CASKIN2	17	73498457	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	875	73498457	7696753	17129	19275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	91					0	0	1	0	0	T	73499216	C	T	73499216	3	4	22	1	0	0	0	0	1	0	0	0	2685	739	26	2	1681	2	CASKIN2	17	73499216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	759	73499216	7695994	17130	19276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	127					0	0	1	0	0	C	73500901	T	C	73500901	3	2	22	1	0	0	0	0	1	0	0	0	2685	1667	58	3	2464	3	CASKIN2	17	73500901	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1685	73500901	7694309	17131	19277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	97					0	0	1	0	0	A	73512857	G	A	73512857	2	1	22	1	0	0	0	0	0	0	0	1	16675	1248	44	2		2	TSEN54	17	73512857	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11956	73512857	7682353	17132	19278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	278					0	0	1	0	0	A	73517527	G	A	73517527	3	1	22	1	0	0	0	0	1	0	0	0	16675	1174	41	2	585	2	TSEN54	17	73517527	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4670	73517527	7677683	17133	19279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	36					0	0	1	0	0	T	73518145	C	T	73518145	3	4	22	1	0	0	0	0	1	0	0	0	16675	797	28	2	1013	2	TSEN54	17	73518145	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	618	73518145	7677065	17134	19280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000167462.5_Missense_Mutation_p.A341T|LLGL2_ENST00000577200.1_Missense_Mutation_p.A341T|LLGL2_ENST00000375227.4_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													58	297					0	0	1	0	0	A	73560573	G	A	73560573	3	1	22	1	0	0	0	0	1	0	0	0	8875	1203	42	2	1055	2	LLGL2	17	73560573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42428	73560573	7634637	17135	19281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	128					3.28513e-13	3.54196e-13	1	1	0	A	73566151	C	A	73566151	2	1	22	1	0	0	0	0	0	0	0	1	8875	726	26	2		2	LLGL2	17	73566151	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5578	73566151	7629059	17136	19282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	43					3.86212e-05	3.93988e-05	1	1	0	T	73566533	G	T	73566533	3	4	22	1	0	0	0	0	1	0	0	0	8875	971	34	2	2072	2	LLGL2	17	73566533	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	382	73566533	7628677	17137	19283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73723936G>A	ENST00000200181.3	+	5	656	c.469_splice	c.e5+1	p.A157_splice	ITGB4_ENST00000449880.2_Splice_Site_p.A157_splice|ITGB4_ENST00000339591.3_Splice_Site_p.A157_splice|ITGB4_ENST00000450894.3_Splice_Site_p.A157_splice|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Splice_Site_p.A157_splice	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													29	135					0	0	1	0	0	A	73723936	G	A	73723936	5	1	22	1	0	0	0	0	0	0	1	0	7941	1246	43	2	483	2	ITGB4	17	73723936	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157403	73723936	7471274	17138	19284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449880.2_Missense_Mutation_p.P321H|ITGB4_ENST00000339591.3_Missense_Mutation_p.P321H|ITGB4_ENST00000450894.3_Missense_Mutation_p.P321H|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_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													74	433					6.44082e-31	7.56849e-31	1	1	0	A	73726545	C	A	73726545	3	1	22	1	0	0	0	0	1	0	0	0	7941	623	22	2	988	2	ITGB4	17	73726545	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2609	73726545	7468665	17139	19285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449880.2_Missense_Mutation_p.E361D|ITGB4_ENST00000339591.3_Missense_Mutation_p.E361D|ITGB4_ENST00000450894.3_Missense_Mutation_p.E361D|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_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													106	444					2.54621e-43	3.10758e-43	1	1	0	T	73727036	G	T	73727036	3	4	22	1	0	0	0	0	1	0	0	0	7941	991	35	2	1113	2	ITGB4	17	73727036	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	491	73727036	7468174	17140	19286											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449880.2_Missense_Mutation_p.Q1094H|ITGB4_ENST00000339591.3_Missense_Mutation_p.Q1094H|ITGB4_ENST00000450894.3_Missense_Mutation_p.Q1094H|ITGB4_ENST00000579662.1_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													22	141					6.36457e-07	6.58826e-07	1	1	0	T	73745092	G	T	73745092	3	4	22	1	0	0	0	0	1	0	0	0	7941	962	34	2	3384	2	ITGB4	17	73745092	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18056	73745092	7450118	17141	19287											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449880.2_Missense_Mutation_p.S1578Y|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000339591.3_Missense_Mutation_p.S1578Y|ITGB4_ENST00000450894.3_Missense_Mutation_p.S1525Y|ITGB4_ENST00000579662.1_Missense_Mutation_p.S1525Y	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													117	625					6.42063e-57	8.038e-57	1	1	0	A	73752585	C	A	73752585	3	1	22	1	0	0	0	0	1	0	0	0	7941	855	30	2	5085	2	ITGB4	17	73752585	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7493	73752585	7442625	17142	19288											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				21	179					0	0	1	0	0	A	73831747	G	A	73831747	3	1	22	1	0	0	0	0	1	0	0	0	17047	1087	38	1	1620	1	UNC13D	17	73831747	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79162	73831747	7363463	17143	19289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585462.1_Silent_p.S87S|WBP2_ENST00000254806.3_Silent_p.S109S|WBP2_ENST00000433525.2_Silent_p.S109S|WBP2_ENST00000590221.1_Silent_p.S109S|WBP2_ENST00000344296.4_Silent_p.S87S			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)	19	111					0	0	1	0	0	A	73844721	G	A	73844721	2	1	22	1	0	0	0	0	0	0	0	1	17319	987	35	2		2	WBP2	17	73844721	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12974	73844721	7350489	17144	19290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	253					0	0	1	0	0	A	73871062	G	A	73871062	2	1	22	1	0	0	0	0	0	0	0	1	16583	1074	38	1		1	TRIM47	17	73871062	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26341	73871062	7324148	17145	19291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	143					0	0	1	0	0	A	73888881	G	A	73888881	2	1	22	1	0	0	0	0	0	0	0	1	16600	1103	39	1		1	TRIM65	17	73888881	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17819	73888881	7306329	17146	19292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MRPL38_ENST00000409963.3_Missense_Mutation_p.L150F|RP11-552F3.10_ENST00000587267.1_RNA	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													9	51					0	0	1	0	0	A	73895245	G	A	73895245	3	1	22	1	0	0	0	0	1	0	0	0	9850	971	34	2	150	2	MRPL38	17	73895245	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6364	73895245	7299965	17147	19293											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409963.3_5'UTR|MRPL38_ENST00000585475.1_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													36	163					0	0	1	0	0	T	73897891	C	T	73897891	3	4	22	1	0	0	0	0	1	0	0	0	9850	710	25	2	673	2	MRPL38	17	73897891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2646	73897891	7297319	17148	19294											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	238					0	0	1	0	0	T	73915865	C	T	73915865	2	4	22	1	0	0	0	0	0	0	0	1	5728	755	27	1		1	FBF1	17	73915865	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17974	73915865	7279345	17149	19295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	313					0	0	1	0	0	T	74003558	C	T	74003558	3	4	22	1	0	0	0	0	1	0	0	0	5320	536	19	1	377	1	EVPL	17	74003558	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87693	74003558	7191652	17150	19296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	1045					0	0	1	0	0	T	74003780	C	T	74003780	3	4	22	1	0	0	0	0	1	0	0	0	5320	913	32	2	599	2	EVPL	17	74003780	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	222	74003780	7191430	17151	19297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	247					6.3091e-27	7.28755e-27	1	1	0	A	74005791	C	A	74005791	3	1	22	1	0	0	0	0	1	0	0	0	5320	912	32	2	2610	2	EVPL	17	74005791	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2011	74005791	7189419	17152	19298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	329					2.00842e-17	2.21757e-17	1	1	0	A	74013961	C	A	74013961	3	1	22	1	0	0	0	0	1	0	0	0	5320	680	24	2	4568	2	EVPL	17	74013961	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8170	74013961	7181249	17153	19299											
EVPL	2125	broad.mit.edu	37	chr17	74015643	74015643	+	Frame_Shift_Del	DEL	G	G	-													gcagctctgtgggggcgccaGgggggcccccaggtgcaggg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74015643delG	ENST00000301607.3	-	10	1356	c.1103delC	c.(1102-1104)ctfs	p.P368fs	EVPL_ENST00000586740.1_Frame_Shift_Del_p.P368fs	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	368	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						GGGGGCGCCAGGGGGGCCCCC	0.612													21	211	---	---	---	---						-	74015643	G	-	74015643	7	5	22	1	0	1	0	1	0	0	0	0	5320	1000	35	0	5050	0	EVPL	17	74015643	Frame_Shift_Del	DEL	G	TCGA-IB-7651-01A-11D-2154-08	1682	74015643	7179567	17154	19300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	95					0	0	1	0	0	T	74017770	C	T	74017770	2	4	22	1	0	0	0	0	0	0	0	1	5320	639	23	1		1	EVPL	17	74017770	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2127	74017770	7177440	17155	19301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	40					0	0	1	0	0	A	74017962	G	A	74017962	3	1	22	1	0	0	0	0	1	0	0	0	5320	1086	38	1	5372	1	EVPL	17	74017962	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192	74017962	7177248	17156	19302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539137.1_Missense_Mutation_p.L222F|SRP68_ENST00000355113.5_Missense_Mutation_p.L159F	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													33	192					0	0	1	0	0	A	74056448	G	A	74056448	3	1	22	1	0	0	0	0	1	0	0	0	15212	1029	36	2	1145	2	SRP68	17	74056448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38486	74056448	7138762	17157	19303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539137.1_Missense_Mutation_p.A210E|SRP68_ENST00000355113.5_Missense_Mutation_p.A147E	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													126	625					5.34577e-75	6.81469e-75	1	1	0	T	74057202	G	T	74057202	3	4	22	1	0	0	0	0	1	0	0	0	15212	1319	46	2	1184	2	SRP68	17	74057202	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	754	74057202	7138008	17158	19304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539137.1_Missense_Mutation_p.R133C|SRP68_ENST00000355113.5_Missense_Mutation_p.R70C	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													99	456					0	0	1	0	0	A	74060107	G	A	74060107	3	1	22	1	0	0	0	0	1	0	0	0	15212	1145	40	1	1424	1	SRP68	17	74060107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2905	74060107	7135103	17159	19305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539137.1_Missense_Mutation_p.R122C|SRP68_ENST00000355113.5_Missense_Mutation_p.R59C	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													124	521					0	0	1	0	0	A	74060140	G	A	74060140	3	1	22	1	0	0	0	0	1	0	0	0	15212	1145	40	1	1457	1	SRP68	17	74060140	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33	74060140	7135070	17160	19306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	160					2.32173e-10	2.46079e-10	1	1	0	A	74073063	C	A	74073063	3	1	22	1	0	0	0	0	1	0	0	0	6268	681	24	2	721	2	GALR2	17	74073063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12923	74073063	7122147	17161	19307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74090663C>T	ENST00000607838.1	-	6	735		c.e6-1		EXOC7_ENST00000411744.2_Splice_Site|EXOC7_ENST00000332065.5_Splice_Site|EXOC7_ENST00000589210.1_Splice_Site|EXOC7_ENST00000467929.2_Splice_Site|EXOC7_ENST00000405575.4_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													80	355					0	0	1	0	0	T	74090663	C	T	74090663	5	4	22	1	0	0	0	0	0	0	1	0	5337	927	32	2	1627	2	EXOC7	17	74090663	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17600	74090663	7104547	17162	19308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	181					4.096e-09	4.30383e-09	1	1	0	A	74133831	C	A	74133831	3	1	22	1	0	0	0	0	1	0	0	0	6045	797	28	2	400	2	FOXJ1	17	74133831	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43168	74133831	7061379	17163	19309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	272					0	0	1	0	0	T	74154560	C	T	74154560	3	4	22	1	0	0	0	0	1	0	0	0	13506	536	19	1	740	1	RNF157	17	74154560	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20729	74154560	7040650	17164	19310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	74					0	0	1	0	0	A	74169839	G	A	74169839	2	1	22	1	0	0	0	0	0	0	0	1	13506	1103	39	1		1	RNF157	17	74169839	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15279	74169839	7025371	17165	19311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	84					0	0	1	0	0	A	74169858	G	A	74169858	3	1	22	1	0	0	0	0	1	0	0	0	13506	1203	42	2	1886	2	RNF157	17	74169858	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19	74169858	7025352	17166	19312											
QRICH2	84074	broad.mit.edu	37	chr17	74276157	74276157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctggtagagtggggggcGctccctgagctgctgtcgca	17	11	0	2	rs146485823	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74276157G>A	ENST00000262765.5	-	12	4386	c.4207C>T	c.(4207-4209)Cgc>Tgc	p.R1403C		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1403							protein binding	p.R1403C(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						AGTGGGGGGCGCTCCCTGAGC	0.682													82	374					0	0	1	0	0	A	74276157	G	A	74276157	3	1	22	1	0	0	0	0	1	0	0	0	12932	1087	38	1	816	1	QRICH2	17	74276157	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106299	74276157	6919053	17167	19313											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	404					0	0	1	0	0	T	74289427	C	T	74289427	3	4	22	1	0	0	0	0	1	0	0	0	12932	913	32	2	4172	2	QRICH2	17	74289427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13270	74289427	6905783	17168	19314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	287					0	0	1	0	0	A	74289861	G	A	74289861	3	1	22	1	0	0	0	0	1	0	0	0	12932	1116	39	1	4606	1	QRICH2	17	74289861	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	434	74289861	6905349	17169	19315											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Missense_Mutation_p.R221H	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													72	373					0	0	1	0	0	T	74308979	C	T	74308979	3	4	22	1	0	0	0	0	1	0	0	0	12633	768	27	1	194	1	PRPSAP1	17	74308979	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19118	74308979	6886231	17170	19316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	167					6.29468e-14	6.81746e-14	1	1	0	A	74324894	C	A	74324894	3	1	22	1	0	0	0	0	1	0	0	0	12633	652	23	4	488	4	PRPSAP1	17	74324894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15915	74324894	6870316	17171	19317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000323374.4_Missense_Mutation_p.P332S|SPHK1_ENST00000392496.3_Missense_Mutation_p.P246S|SPHK1_ENST00000592299.1_Missense_Mutation_p.P246S|SPHK1_ENST00000590959.1_Missense_Mutation_p.P260S			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													16	114					0	0	1	0	0	T	74383248	C	T	74383248	3	4	22	1	0	0	0	0	1	0	0	0	15102	739	26	2	1058	2	SPHK1	17	74383248	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58354	74383248	6811962	17172	19318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	1323					0	0	1	0	0	T	74392554	C	T	74392554	3	4	22	1	0	0	0	0	1	0	0	0	16929	864	30	2	1434	2	UBE2O	17	74392554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9306	74392554	6802656	17173	19319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	75					0.00198382	0.00200138	1	1	0	A	74566667	C	A	74566667	3	1	22	1	0	0	0	0	1	0	0	0	15280	680	24	2	387	2	ST6GALNAC2	17	74566667	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174113	74566667	6628543	17174	19320											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	250					0	0	1	0	0	T	74574856	C	T	74574856	2	4	22	1	0	0	0	0	0	0	0	1	15280	871	31	1		1	ST6GALNAC2	17	74574856	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8189	74574856	6620354	17175	19321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	202					0	0	1	0	0	A	74621580	G	A	74621580	2	1	22	1	0	0	0	0	0	0	0	1	15279	1190	42	2		2	ST6GALNAC1	17	74621580	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46724	74621580	6573630	17176	19322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355797.3_Intron|MXRA7_ENST00000588114.1_Intron|MXRA7_ENST00000585519.1_Intron|MXRA7_ENST00000589082.1_Silent_p.*23*|MXRA7_ENST00000449428.2_Intron|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													46	271					0	0	1	0	0	T	74679976	C	T	74679976	2	4	22	1	0	0	0	0	0	0	0	1	10052	808	28	2		2	MXRA7	17	74679976	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58396	74679976	6515234	17177	19323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355954.3_Silent_p.L264L|MFSD11_ENST00000336509.4_Silent_p.L316L|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000586622.1_Silent_p.L316L|MFSD11_ENST00000593181.1_Silent_p.L264L|MFSD11_ENST00000590514.1_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													172	671					5.74082e-73	7.30534e-73	1	1	0	T	74771152	G	T	74771152	2	4	22	1	0	0	0	0	0	0	0	1	9579	1335	47	2		2	MFSD11	17	74771152	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91176	74771152	6424058	17178	19324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428789.2_Missense_Mutation_p.A700V|MGAT5B_ENST00000301618.4_Missense_Mutation_p.A689V	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													26	128					0	0	1	0	0	T	74944060	C	T	74944060	3	4	22	1	0	0	0	0	1	0	0	0	9599	739	26	2	2229	2	MGAT5B	17	74944060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172908	74944060	6251150	17179	19325											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000431235.2_Missense_Mutation_p.A95V|SEPT9_ENST00000592951.1_Missense_Mutation_p.A8V|SEPT9_ENST00000427674.2_Missense_Mutation_p.A95V|SEPT9_ENST00000423034.2_Missense_Mutation_p.A252V|SEPT9_ENST00000592420.1_Missense_Mutation_p.A68V|SEPT9_ENST00000590294.1_Missense_Mutation_p.A241V|SEPT9_ENST00000590917.1_Missense_Mutation_p.A8V|SEPT9_ENST00000588690.1_Missense_Mutation_p.A95V|SEPT9_ENST00000591088.1_Missense_Mutation_p.A8V|SEPT9_ENST00000449803.2_Missense_Mutation_p.A95V|SEPT9_ENST00000541152.2_Missense_Mutation_p.A8V|SEPT9_ENST00000427177.1_Missense_Mutation_p.A259V|SEPT9_ENST00000591198.1_Missense_Mutation_p.A240V|SEPT9_ENST00000427180.1_Missense_Mutation_p.A147V|SEPT9_ENST00000585930.1_Missense_Mutation_p.A35V|SEPT9_ENST00000592481.1_3'UTR	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													15	73					0	0	1	0	0	T	75478280	C	T	75478280	3	4	22	1	0	0	0	0	1	0	0	0	14125	739	26	2	1264	2	SEPT9	17	75478280	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534220	75478280	5716930	17180	19326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000301624.4_Silent_p.S816S|TNRC6C_ENST00000588061.1_Silent_p.S816S|TNRC6C_ENST00000588847.1_Silent_p.S813S|TNRC6C_ENST00000544502.1_Silent_p.S813S|TNRC6C_ENST00000541771.1_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													60	259					0	0	1	0	0	C	76060855	T	C	76060855	2	2	22	1	0	0	0	0	0	0	0	1	16402	1596	56	3		3	TNRC6C	17	76060855	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	582575	76060855	5134355	17181	19327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000301624.4_Missense_Mutation_p.S1257Y|TNRC6C_ENST00000588061.1_Missense_Mutation_p.S1257Y|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000541771.1_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													57	545					2.73361e-28	3.17826e-28	1	1	0	A	76083142	C	A	76083142	3	1	22	1	0	0	0	0	1	0	0	0	16402	913	32	2	3812	2	TNRC6C	17	76083142	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22287	76083142	5112068	17182	19328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000301624.4_Missense_Mutation_p.S1366N|TNRC6C_ENST00000588061.1_Missense_Mutation_p.S1366N|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1363N|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1363N|TNRC6C_ENST00000541771.1_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													35	144					0	0	1	0	0	A	76089140	G	A	76089140	3	1	22	1	0	0	0	0	1	0	0	0	16402	971	34	2	4147	2	TNRC6C	17	76089140	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5998	76089140	5106070	17183	19329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589553.1_Missense_Mutation_p.V132M|TMC6_ENST00000322914.3_Missense_Mutation_p.V359M|TMC6_ENST00000392467.3_Missense_Mutation_p.V359M|TMC6_ENST00000306591.7_Missense_Mutation_p.V359M|TMC6_ENST00000322933.4_De_novo_Start_InFrame			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													53	208					0	0	1	0	0	T	76120077	C	T	76120077	3	4	22	1	0	0	0	0	1	0	0	0	16049	507	18	2	1390	2	TMC6	17	76120077	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30937	76120077	5075133	17184	19330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76122448C>T	ENST00000590602.1	-	4	341		c.e4-1		TMC6_ENST00000589553.1_Splice_Site|TMC6_ENST00000322914.3_Splice_Site|TMC6_ENST00000392467.3_Splice_Site|TMC6_ENST00000306591.7_Splice_Site|TMC6_ENST00000322933.4_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													21	62					0	0	1	0	0	T	76122448	C	T	76122448	5	4	22	1	0	0	0	0	0	0	1	0	16049	695	24	2	2304	2	TMC6	17	76122448	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2371	76122448	5072762	17185	19331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	108					0	0	1	0	0	G	76128508	A	G	76128508	3	3	22	1	0	0	0	0	1	0	0	0	16051	304	11	3	377	3	TMC8	17	76128508	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6060	76128508	5066702	17186	19332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000586731.1_Missense_Mutation_p.R14Q|AFMID_ENST00000327898.5_Missense_Mutation_p.R31Q|AFMID_ENST00000589256.1_Missense_Mutation_p.R31Q|AFMID_ENST00000591952.1_Missense_Mutation_p.R31Q|AFMID_ENST00000588800.1_Missense_Mutation_p.R31Q	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													7	165					0	0	1	0	0	A	76187079	G	A	76187079	3	1	22	1	0	0	0	0	1	0	0	0	361	1058	37	1	98	1	AFMID	17	76187079	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58571	76187079	5008131	17187	19333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589664.1_Intron|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000588800.1_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													28	200					0	0	1	0	0	T	76200768	C	T	76200768	2	4	22	1	0	0	0	0	0	0	0	1	361	796	28	2		2	AFMID	17	76200768	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13689	76200768	4994442	17188	19334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	275					0	0	1	0	0	A	76354664	G	A	76354664	2	1	22	1	0	0	0	0	0	0	0	1	14969	1074	38	1		1	SOCS3	17	76354664	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153896	76354664	4840546	17189	19335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	588					0	0	1	0	0	C	76430117	T	C	76430117	3	2	22	1	0	0	0	0	1	0	0	0	4629	1725	60	3	1198	3	DNAH17	17	76430117	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	75453	76430117	4765093	17190	19336											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	104					0	0	1	0	0	A	76435168	G	A	76435168	4	1	22	1	0	0	0	0	0	1	0	0	4629	1160	40	1		1	DNAH17	17	76435168	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5051	76435168	4760042	17191	19337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	268					1.93748e-29	2.26412e-29	1	1	0	T	76450748	G	T	76450748	3	4	22	1	0	0	0	0	1	0	0	0	4629	991	35	2	3250	2	DNAH17	17	76450748	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15580	76450748	4744462	17192	19338											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	99					7.92952e-12	8.47903e-12	1	1	0	T	76451842	G	T	76451842	3	4	22	1	0	0	0	0	1	0	0	0	4629	962	34	2	3410	2	DNAH17	17	76451842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1094	76451842	4743368	17193	19339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	238					0	0	1	0	0	A	76458993	G	A	76458993	3	1	22	1	0	0	0	0	1	0	0	0	4629	1145	40	1	4381	1	DNAH17	17	76458993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7151	76458993	4736217	17194	19340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	262					0	0	1	0	0	T	76475586	C	T	76475586	2	4	22	1	0	0	0	0	0	0	0	1	4629	796	28	2		2	DNAH17	17	76475586	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16593	76475586	4719624	17195	19341											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	DNAH17_ENST00000585328.1_Silent_p.G2356G|RP11-559N14.5_ENST00000585969.1_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													39	184					1.60099e-16	1.75945e-16	1	1	0	T	76482324	G	T	76482324	2	4	22	1	0	0	0	0	0	0	0	1	4629	1074	38	4		4	DNAH17	17	76482324	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6738	76482324	4712886	17196	19342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585328.1_Missense_Mutation_p.T1861I|DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.G121D					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													22	74					0	0	1	0	0	A	76496430	G	A	76496430	3	1	22	1	0	0	0	0	1	0	0	0	4629	1261	44	2	7975	2	DNAH17	17	76496430	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14106	76496430	4698780	17197	19343											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585328.1_Missense_Mutation_p.E1713D|DNAH17-AS1_ENST00000598378.1_3'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)			CATAGCCTTCCTCCAGCCTGG	0.478													30	127					1.32181e-22	1.49747e-22	1	1	0	A	76498715	C	A	76498715	3	1	22	1	0	0	0	0	1	0	0	0	4629	680	24	2	8436	2	DNAH17	17	76498715	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2285	76498715	4696495	17198	19344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	83					5.35267e-07	5.54261e-07	1	1	0	A	76565528	C	A	76565528	3	1	22	1	0	0	0	0	1	0	0	0	4629	739	26	2	12558	2	DNAH17	17	76565528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66813	76565528	4629682	17199	19345											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76799818G>A	ENST00000312010.6	-	16	2783	c.2459C>T	c.(2458-2460)cCg>cTg	p.P820L	USP36_ENST00000542802.2_Missense_Mutation_p.P820L|USP36_ENST00000449938.2_Intron	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	820					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													36	256					0	0	1	0	0	A	76799818	G	A	76799818	3	1	22	1	0	0	0	0	1	0	0	0	17127	1116	39	1	932	1	USP36	17	76799818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234290	76799818	4395392	17200	19346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76803497C>T	ENST00000312010.6	-	14	1953	c.1629G>A	c.(1627-1629)caG>caA	p.Q543Q	USP36_ENST00000542802.2_Silent_p.Q543Q|USP36_ENST00000449938.2_Silent_p.Q243Q	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	543					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													39	194					0	0	1	0	0	T	76803497	C	T	76803497	2	4	22	1	0	0	0	0	0	0	0	1	17127	796	28	2		2	USP36	17	76803497	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3679	76803497	4391713	17201	19347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	43	175					0	0	1	0	0	A	76967886	G	A	76967886	2	1	22	1	0	0	0	0	0	0	0	1	8783	1074	38	1		1	LGALS3BP	17	76967886	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	164389	76967886	4227324	17202	19348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585407.1_Silent_p.G152G|LGALS3BP_ENST00000591778.1_Intron	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													5	78					0.00116845	0.00118049	1	1	0	T	76969225	G	T	76969225	2	4	22	1	0	0	0	0	0	0	0	1	8783	958	34	2		2	LGALS3BP	17	76969225	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1339	76969225	4225985	17203	19349											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000580454.1_5'UTR|C1QTNF1_ENST00000581774.1_5'UTR|C1QTNF1_ENST00000339142.2_5'UTR|C1QTNF1_ENST00000579760.1_5'UTR|C1QTNF1_ENST00000578229.1_5'UTR|C1QTNF1_ENST00000583904.1_5'UTR|C1QTNF1_ENST00000311661.4_Intron|C1QTNF1_ENST00000580474.1_5'UTR|C1QTNF1_ENST00000392445.2_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													81	329					0	0	1	0	0	G	77040048	A	G	77040048	3	3	22	1	0	0	0	0	1	0	0	0	1975	261	9	3		3	C1QTNF1	17	77040048	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	70823	77040048	4155162	17204	19350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000580454.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.A98S|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.A6S|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.A6S|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.A88S	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)	112	534					3.70905e-73	4.72081e-73	1	1	0	T	77042743	G	T	77042743	3	4	22	1	0	0	0	0	1	0	0	0	1975	1087	38	4	268	4	C1QTNF1	17	77042743	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2695	77042743	4152467	17205	19351											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000580454.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D237N|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D145N|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D145N|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D227N	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													62	288					0	0	1	0	0	A	77044003	G	A	77044003	3	1	22	1	0	0	0	0	1	0	0	0	1975	1058	37	1	689	1	C1QTNF1	17	77044003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1260	77044003	4151207	17206	19352											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	277					0	0	1	0	0	A	77078194	G	A	77078194	3	1	22	1	0	0	0	0	1	0	0	0	5146	1247	43	2		2	ENGASE	17	77078194	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34191	77078194	4117016	17207	19353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_848638.2	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													7	343					0	0	1	0	0	T	77708906	C	T	77708906	3	4	22	1	0	0	0	0	1	0	0	0	5163	536	19	1	474	1	ENPP7	17	77708906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	630712	77708906	3486304	17208	19354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_848638.2	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													50	252					0	0	1	0	0	T	77709051	C	T	77709051	2	4	22	1	0	0	0	0	0	0	0	1	5163	477	17	2		2	ENPP7	17	77709051	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145	77709051	3486159	17209	19355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_848638.2	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													63	238					0	0	1	0	0	T	77709091	C	T	77709091	3	4	22	1	0	0	0	0	1	0	0	0	5163	759	27	1	659	1	ENPP7	17	77709091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40	77709091	3486119	17210	19356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_848638.2	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													11	107					0	0	1	0	0	T	77711050	C	T	77711050	2	4	22	1	0	0	0	0	0	0	0	1	5163	796	28	2		2	ENPP7	17	77711050	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1959	77711050	3484160	17211	19357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_848638.2	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													18	542					5.03518e-11	5.3609e-11	1	1	0	A	77711769	C	A	77711769	3	1	22	1	0	0	0	0	1	0	0	0	5163	797	28	2	1319	2	ENPP7	17	77711769	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	719	77711769	3483441	17212	19358											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	208					0	0	1	0	0	G	77757883	T	G	77757883	3	3	22	1	0	0	0	0	1	0	0	0	2736	1580	55	3	1007	3	CBX2	17	77757883	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46114	77757883	3437327	17213	19359											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	59					3.52763e-06	3.62938e-06	1	1	0	A	78024044	C	A	78024044	3	1	22	1	0	0	0	0	1	0	0	0	2831	507	18	2	1147	2	CCDC40	17	78024044	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	266161	78024044	3171166	17214	19360											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	248					0	0	1	0	0	G	78032362	A	G	78032362	3	3	22	1	0	0	0	0	1	0	0	0	2831	275	10	3	1259	3	CCDC40	17	78032362	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8318	78032362	3162848	17215	19361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	199					0	0	1	0	0	T	78032408	C	T	78032408	2	4	22	1	0	0	0	0	0	0	0	1	2831	639	23	1		1	CCDC40	17	78032408	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46	78032408	3162802	17216	19362	127	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	184					0	0	1	0	0	T	78032413	C	T	78032413	3	4	22	1	0	0	0	0	1	0	0	0	2831	536	19	1	1310	1	CCDC40	17	78032413	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	78032413	3162797	17217	19363	127	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	156					0	0	1	0	0	G	78055849	A	G	78055849	3	3	22	1	0	0	0	0	1	0	0	0	2831	275	10	3	2027	3	CCDC40	17	78055849	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23436	78055849	3139361	17218	19364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	82					0	0	1	0	0	A	78086504	G	A	78086504	3	1	22	1	0	0	0	0	1	0	0	0	6182	1145	40	1	1928	1	GAA	17	78086504	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30655	78086504	3108706	17219	19365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	461					0	0	1	0	0	A	78111992	G	A	78111992	2	1	22	1	0	0	0	0	0	0	0	1	5054	1140	40	1		1	EIF4A3	17	78111992	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25488	78111992	3083218	17220	19366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	207					0	0	1	0	0	T	78120716	C	T	78120716	2	4	22	1	0	0	0	0	0	0	0	1	5054	796	28	2		2	EIF4A3	17	78120716	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8724	78120716	3074494	17221	19367											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	395					0	0	1	0	0	T	78165181	C	T	78165181	2	4	22	1	0	0	0	0	0	0	0	1	2664	564	20	2		2	CARD14	17	78165181	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44465	78165181	3030029	17222	19368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													127	621					0	0	1	0	0	C	78184610	A	C	78184610	3	2	22	1	0	0	0	0	1	0	0	0	14275	72	3	3	362	3	SGSH	17	78184610	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19429	78184610	3010600	17223	19369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000572725.1_Missense_Mutation_p.I165L|SLC26A11_ENST00000546047.2_Missense_Mutation_p.I165L|SLC26A11_ENST00000411502.3_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													39	175					0	0	1	0	0	C	78197116	A	C	78197116	3	2	22	1	0	0	0	0	1	0	0	0	14571	217	8	3	503	3	SLC26A11	17	78197116	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12506	78197116	2998094	17224	19370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78215619C>T	ENST00000361193.3	+	10	1315	c.1036_splice	c.e10+1	p.I345_splice	SLC26A11_ENST00000572725.1_Splice_Site_p.I345_splice|SLC26A11_ENST00000546047.2_Splice_Site_p.I345_splice|SLC26A11_ENST00000411502.3_Splice_Site_p.I345_splice	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													112	479					0	0	1	0	0	T	78215619	C	T	78215619	5	4	22	1	0	0	0	0	0	0	1	0	14571	898	31	1	1065	1	SLC26A11	17	78215619	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18503	78215619	2979591	17225	19371											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000336301.6_Missense_Mutation_p.R511H|RNF213_ENST00000508628.2_Missense_Mutation_p.R2487H	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													9	488					0	0	1	0	0	A	78319448	G	A	78319448	3	1	22	1	0	0	0	0	1	0	0	0	13529	1145	40	1	7742	1	RNF213	17	78319448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103829	78319448	2875762	17226	19372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RNF213_ENST00000336301.6_Missense_Mutation_p.K1810N|RNF213_ENST00000508628.2_Missense_Mutation_p.K3786N|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)			GACTGCCCAAGAAGTTCGTGG	0.577													53	286					7.47603e-22	8.43918e-22	1	1	0	T	78335544	G	T	78335544	3	4	22	1	0	0	0	0	1	0	0	0	13529	933	33	2	11680	2	RNF213	17	78335544	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16096	78335544	2859666	17227	19373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RNF213_ENST00000336301.6_Silent_p.L1924L|RNF213_ENST00000508628.2_Silent_p.L3900L|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)			GAACCATGAGCTGGCTGGATG	0.567													19	382					0	0	1	0	0	T	78337097	C	T	78337097	2	4	22	1	0	0	0	0	0	0	0	1	13529	796	28	2		2	RNF213	17	78337097	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1553	78337097	2858113	17228	19374											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RNF213_ENST00000336301.6_Missense_Mutation_p.F2277V|RNF213_ENST00000508628.2_Missense_Mutation_p.F4253V|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	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													16	127					0	0	1	0	0	G	78346393	T	G	78346393	3	3	22	1	0	0	0	0	1	0	0	0	13529	1841	64	3	13115	3	RNF213	17	78346393	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9296	78346393	2848817	17229	19375											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RNF213_ENST00000336301.6_Missense_Mutation_p.A2409V|RNF213_ENST00000508628.2_Missense_Mutation_p.A4385V|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)			GAATACAAGGCTCTCCGTGAT	0.567													12	336					0	0	1	0	0	T	78348322	C	T	78348322	3	4	22	1	0	0	0	0	1	0	0	0	13529	797	28	2	13520	2	RNF213	17	78348322	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1929	78348322	2846888	17230	19376											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000336301.6_Missense_Mutation_p.T3104I|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.T5080I|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)			GTAGAAGTCACTCTGGGGTTT	0.517													44	239					0	0	1	0	0	T	78363064	C	T	78363064	3	4	22	1	0	0	0	0	1	0	0	0	13529	565	20	2	15665	2	RNF213	17	78363064	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14742	78363064	2832146	17231	19377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000570891.1_Missense_Mutation_p.R139H|RPTOR_ENST00000544334.2_Missense_Mutation_p.R139H|RPTOR_ENST00000537330.1_5'UTR	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													22	116					0	0	1	0	0	A	78681708	G	A	78681708	3	1	22	1	0	0	0	0	1	0	0	0	13717	1087	38	1	430	1	RPTOR	17	78681708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	318644	78681708	2513502	17232	19378											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000570891.1_Silent_p.I315I|RPTOR_ENST00000544334.2_Silent_p.I315I|RPTOR_ENST00000537330.1_Silent_p.I130I|RPTOR_ENST00000575542.1_3'UTR	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													272	1396					1.08273e-52	1.34737e-52	1	1	0	A	78796055	C	A	78796055	2	1	22	1	0	0	0	0	0	0	0	1	13717	903	32	2		2	RPTOR	17	78796055	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114347	78796055	2399155	17233	19379											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544334.2_Missense_Mutation_p.P738S|RPTOR_ENST00000575542.1_3'UTR	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													37	260					0	0	1	0	0	T	78897351	C	T	78897351	3	4	22	1	0	0	0	0	1	0	0	0	13717	739	26	2	2776	2	RPTOR	17	78897351	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101296	78897351	2297859	17234	19380											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544334.2_Missense_Mutation_p.A953V|RPTOR_ENST00000575542.1_3'UTR	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													196	913					0	0	1	0	0	T	78923309	C	T	78923309	3	4	22	1	0	0	0	0	1	0	0	0	13717	768	27	1	3442	1	RPTOR	17	78923309	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25958	78923309	2271901	17235	19381											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544334.2_Silent_p.I1023I|RPTOR_ENST00000575542.1_3'UTR	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													40	303					0	0	1	0	0	T	78933943	C	T	78933943	2	4	22	1	0	0	0	0	0	0	0	1	13717	874	31	1		1	RPTOR	17	78933943	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10634	78933943	2261267	17236	19382											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000575245.1_Missense_Mutation_p.L149M|BAIAP2_ENST00000392411.3_Missense_Mutation_p.L38M|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000428708.2_Missense_Mutation_p.L116M|BAIAP2_ENST00000435091.3_Missense_Mutation_p.L116M|BAIAP2_ENST00000575712.1_Missense_Mutation_p.L116M	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													41	228					9.84934e-19	1.0948e-18	1	1	0	A	79059520	C	A	79059520	3	1	22	1	0	0	0	0	1	0	0	0	1299	912	32	2	364	2	BAIAP2	17	79059520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125577	79059520	2135690	17237	19383											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000575245.1_Nonsense_Mutation_p.E222*|BAIAP2_ENST00000416299.2_Nonsense_Mutation_p.E52*|BAIAP2_ENST00000392411.3_Nonsense_Mutation_p.E111*|BAIAP2_ENST00000428708.2_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000435091.3_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000575712.1_Nonsense_Mutation_p.E189*	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													15	427					1.49906e-05	1.53515e-05	1	1	0	T	79073803	G	T	79073803	4	4	22	1	0	0	0	0	0	1	0	0	1299	943	33	2	591	2	BAIAP2	17	79073803	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14283	79073803	2121407	17238	19384											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000575245.1_Silent_p.P360P|BAIAP2_ENST00000416299.2_Silent_p.P190P|BAIAP2_ENST00000392411.3_Silent_p.P249P|BAIAP2_ENST00000428708.2_Silent_p.P327P|BAIAP2_ENST00000435091.3_Silent_p.P327P|BAIAP2_ENST00000575712.1_Silent_p.P327P	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													83	378					0	0	1	0	0	A	79077823	G	A	79077823	2	1	22	1	0	0	0	0	0	0	0	1	1299	1074	38	1		1	BAIAP2	17	79077823	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4020	79077823	2117387	17239	19385											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	173					0	0	1	0	0	T	79094040	C	T	79094040	2	4	22	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	17240	19386											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	47					0.000673444	0.000681208	1	1	0	T	79094443	G	T	79094443	3	4	22	1	0	0	0	0	1	0	0	0	26	1174	41	2	847	2	AATK	17	79094443	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	403	79094443	2100767	17241	19387											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450824.2_Missense_Mutation_p.A868V|AZI1_ENST00000575907.1_Missense_Mutation_p.A835V	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													9	41					0	0	1	0	0	A	79166137	G	A	79166137	3	1	22	1	0	0	0	0	1	0	0	0	1238	1203	42	2	663	2	AZI1	17	79166137	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71694	79166137	2029073	17242	19388											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450824.2_Silent_p.T93T|AZI1_ENST00000374782.3_Silent_p.T93T|AZI1_ENST00000575907.1_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													39	171					0	0	1	0	0	T	79181033	C	T	79181033	2	4	22	1	0	0	0	0	0	0	0	1	1238	639	23	1		1	AZI1	17	79181033	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14896	79181033	2014177	17243	19389											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	264					0	0	1	0	0	A	79219815	G	A	79219815	2	1	22	1	0	0	0	0	0	0	0	1	14657	1074	38	1		1	SLC38A10	17	79219815	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38782	79219815	1975395	17244	19390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	321					0	0	1	0	0	A	79226464	G	A	79226464	2	1	22	1	0	0	0	0	0	0	0	1	14657	1074	38	1		1	SLC38A10	17	79226464	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6649	79226464	1968746	17245	19391											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79257209C>A	ENST00000374759.3	-	4	740	c.357_splice	c.e4+1	p.Q119_splice	SLC38A10_ENST00000288439.5_Splice_Site_p.Q119_splice	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													18	89					9.7654e-05	9.93505e-05	1	1	0	A	79257209	C	A	79257209	5	1	22	1	0	0	0	0	0	0	1	0	14657	695	24	2	3332	2	SLC38A10	17	79257209	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30745	79257209	1938001	17246	19392											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000327787.8_Missense_Mutation_p.A742V|C17orf70_ENST00000425898.2_Missense_Mutation_p.A391V	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													21	155					0	0	1	0	0	A	79512857	G	A	79512857	3	1	22	1	0	0	0	0	1	0	0	0	1886	971	34	2	436	2	C17orf70	17	79512857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	255648	79512857	1682353	17247	19393											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000327787.8_Silent_p.G590G|C17orf70_ENST00000425898.2_Silent_p.G239G	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													90	252					2.79064e-53	3.47735e-53	1	1	0	T	79514338	G	T	79514338	2	4	22	1	0	0	0	0	0	0	0	1	1886	1074	38	4		4	C17orf70	17	79514338	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1481	79514338	1680872	17248	19394											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	213					6.5261e-18	7.22248e-18	1	1	0	T	79612028	G	T	79612028	1	4	22	0	1	0	0	0	0	0	0	0	16695	1203	42	2		2	TSPAN10	17	79612028	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97690	79612028	1583182	17249	19395											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79637483C>T	ENST00000329214.8	+	3	900	c.497_splice	c.e3+1	p.A166_splice		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													24	112					0	0	1	0	0	T	79637483	C	T	79637483	5	4	22	1	0	0	0	0	0	0	1	0	2789	782	27	1	507	1	CCDC137	17	79637483	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25455	79637483	1557727	17250	19396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	428					3.22635e-48	3.98049e-48	1	1	0	A	79662228	C	A	79662228	3	1	22	1	0	0	0	0	1	0	0	0	7128	681	24	2	1208	2	HGS	17	79662228	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24745	79662228	1532982	17251	19397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	219					0	0	1	0	0	T	79667816	C	T	79667816	3	4	22	1	0	0	0	0	1	0	0	0	7128	855	30	2	2186	2	HGS	17	79667816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5588	79667816	1527394	17252	19398											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541078.2_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000584461.1_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000400721.4_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000580685.1_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													63	256					0	0	1	0	0	T	79827105	C	T	79827105	3	4	22	1	0	0	0	0	1	0	0	0	887	884	31	1	263	1	ARHGDIA	17	79827105	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159289	79827105	1368105	17253	19399											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000577756.1_Missense_Mutation_p.C159F|PYCR1_ENST00000402252.2_Missense_Mutation_p.C186F|PYCR1_ENST00000329875.8_Missense_Mutation_p.C159F|PYCR1_ENST00000403172.4_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													32	206					1.26612e-14	1.37737e-14	1	1	0	A	79892866	C	A	79892866	3	1	22	1	0	0	0	0	1	0	0	0	12907	710	25	2	587	2	PYCR1	17	79892866	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65761	79892866	1302344	17254	19400											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000580534.1_Intron|ASPSCR1_ENST00000306739.4_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								23	139					0	0	1	0	0	T	79973230	C	T	79973230	3	4	22	1	0	0	0	0	1	0	0	0	1058	667	23	1		1	ASPSCR1	17	79973230	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80364	79973230	1221980	17255	19401											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													137	560					0	0	1	0	0	T	79990867	C	T	79990867	2	4	22	1	0	0	0	0	0	0	0	1	13028	883	31	1		1	RAC3	17	79990867	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17637	79990867	1204343	17256	19402											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000320548.4_Missense_Mutation_p.A118V|GPS1_ENST00000306823.6_Missense_Mutation_p.A138V|GPS1_ENST00000578552.1_Missense_Mutation_p.A134V|GPS1_ENST00000355130.2_Missense_Mutation_p.A174V	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													26	91					0	0	1	0	0	T	80012478	C	T	80012478	3	4	22	1	0	0	0	0	1	0	0	0	6773	768	27	1	584	1	GPS1	17	80012478	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21611	80012478	1182732	17257	19403											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	569					4.25105e-50	5.26406e-50	1	1	0	T	80019817	G	T	80019817	3	4	22	1	0	0	0	0	1	0	0	0	4831	991	35	2	904	2	DUS1L	17	80019817	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7339	80019817	1175393	17258	19404											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	799					5.44642e-36	6.51243e-36	1	1	0	T	80021381	G	T	80021381	2	4	22	1	0	0	0	0	0	0	0	1	4831	987	35	2		2	DUS1L	17	80021381	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1564	80021381	1173829	17259	19405											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	368					0	0	1	0	0	A	80037394	G	A	80037394	3	1	22	1	0	0	0	0	1	0	0	0	5716	1116	39	1	306	1	FASN	17	80037394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16013	80037394	1157816	17260	19406											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	76					0	0	1	0	0	A	80038697	G	A	80038697	3	1	22	1	0	0	0	0	1	0	0	0	5716	1086	38	1	858	1	FASN	17	80038697	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1303	80038697	1156513	17261	19407											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	184					0	0	1	0	0	A	80039892	G	A	80039892	5	1	22	1	0	0	0	0	0	0	1	0	5716	1190	42	2	1411	2	FASN	17	80039892	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1195	80039892	1155318	17262	19408											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	213					0	0	1	0	0	A	80039903	G	A	80039903	3	1	22	1	0	0	0	0	1	0	0	0	5716	1115	39	1	1422	1	FASN	17	80039903	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11	80039903	1155307	17263	19409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	53					0	0	1	0	0	A	80042511	G	A	80042511	3	1	22	1	0	0	0	0	1	0	0	0	5716	1174	41	2	2957	2	FASN	17	80042511	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2608	80042511	1152699	17264	19410											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	65					1.05317e-09	1.11087e-09	1	1	0	T	80045103	G	T	80045103	3	4	22	1	0	0	0	0	1	0	0	0	5716	962	34	2	4377	2	FASN	17	80045103	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2592	80045103	1150107	17265	19411											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	402					0	0	1	0	0	A	80045873	G	A	80045873	2	1	22	1	0	0	0	0	0	0	0	1	5716	1219	43	2		2	FASN	17	80045873	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	770	80045873	1149337	17266	19412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80047259G>A	ENST00000306749.2	-	13	2185	c.1965_splice	c.e13-1	p.A656_splice		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													74	304					0	0	1	0	0	A	80047259	G	A	80047259	5	1	22	1	0	0	0	0	0	0	1	0	5716	1217	42	2	5692	2	FASN	17	80047259	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1386	80047259	1147951	17267	19413											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80050687G>A	ENST00000306749.2	-	7	998	c.778_splice	c.e7-1	p.G260_splice		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													17	48					0	0	1	0	0	A	80050687	G	A	80050687	5	1	22	1	0	0	0	0	0	0	1	0	5716	1101	38	1	6903	1	FASN	17	80050687	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3428	80050687	1144523	17268	19414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80159511G>A	ENST00000389641.4	-	2	346	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	CCDC57_ENST00000392343.3_Nonsense_Mutation_p.Q104*|CCDC57_ENST00000392347.1_Nonsense_Mutation_p.Q104*			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													27	269					0	0	1	0	0	A	80159511	G	A	80159511	4	1	22	1	0	0	0	0	0	1	0	0	2847	1328	46	2	2501	2	CCDC57	17	80159511	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108824	80159511	1035699	17269	19415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80159556G>A	ENST00000389641.4	-	2	301	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	CCDC57_ENST00000392343.3_Missense_Mutation_p.R89W|CCDC57_ENST00000392347.1_Missense_Mutation_p.R89W			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													35	355					0	0	1	0	0	A	80159556	G	A	80159556	3	1	22	1	0	0	0	0	1	0	0	0	2847	1086	38	1	2546	1	CCDC57	17	80159556	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	80159556	1035654	17270	19416											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80159683C>T	ENST00000389641.4	-	2	174	c.138G>A	c.(136-138)gcG>gcA	p.A46A	CCDC57_ENST00000392343.3_Silent_p.A46A|CCDC57_ENST00000392347.1_Silent_p.A46A			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													88	337					0	0	1	0	0	T	80159683	C	T	80159683	2	4	22	1	0	0	0	0	0	0	0	1	2847	755	27	1		1	CCDC57	17	80159683	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127	80159683	1035527	17271	19417											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	66	262					0	0	1	0	0	A	80202665	G	A	80202665	3	1	22	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	17272	19418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													148	687					1.91924e-68	2.4338e-68	1	1	0	A	80274664	C	A	80274664	2	1	22	1	0	0	0	0	0	0	0	1	3054	494	18	2		2	CD7	17	80274664	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71999	80274664	920546	17273	19419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	222					0	0	1	0	0	A	80282651	G	A	80282651	2	1	22	1	0	0	0	0	0	0	0	1	14062	1219	43	2		2	SECTM1	17	80282651	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7987	80282651	912559	17274	19420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	117					0	0	1	0	0	A	80332627	G	A	80332627	3	1	22	1	0	0	0	0	1	0	0	0	17166	1145	40	1	429	1	UTS2R	17	80332627	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49976	80332627	862583	17275	19421											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	266					0	0	1	0	0	T	80391663	C	T	80391663	3	4	22	1	0	0	0	0	1	0	0	0	7116	623	22	2	426	2	HEXDC	17	80391663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59036	80391663	803547	17276	19422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	606					0	0	1	0	0	T	80400400	C	T	80400400	3	4	22	1	0	0	0	0	1	0	0	0	7116	623	22	2	1732	2	HEXDC	17	80400400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8737	80400400	794810	17277	19423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000306645.5_Missense_Mutation_p.R147H|C17orf62_ENST00000578919.1_Missense_Mutation_p.R147H|C17orf62_ENST00000585080.1_Missense_Mutation_p.R147H|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000578913.1_Missense_Mutation_p.R147H|C17orf62_ENST00000342572.8_Missense_Mutation_p.R23H|C17orf62_ENST00000583617.1_Missense_Mutation_p.R147H|C17orf62_ENST00000577436.1_Missense_Mutation_p.R133H|C17orf62_ENST00000577732.1_Missense_Mutation_p.R147H|C17orf62_ENST00000434650.2_Missense_Mutation_p.R133H|C17orf62_ENST00000585064.1_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													52	277					0	0	1	0	0	T	80402326	C	T	80402326	3	4	22	1	0	0	0	0	1	0	0	0	1879	768	27	1	131	1	C17orf62	17	80402326	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1926	80402326	792884	17278	19424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80788752G>T	ENST00000269394.3	-	3	2271	c.1436_splice	c.e3-1	p.L480_splice	ZNF750_ENST00000572562.1_Splice_Site_p.L81_splice|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	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													79	280					6.01781e-45	7.37136e-45	1	1	0	T	80788752	G	T	80788752	5	4	22	1	0	0	0	0	0	0	1	0	18182	1014	35	2	737	2	ZNF750	17	80788752	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	386426	80788752	406458	17279	19425											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_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													87	364					4.08182e-41	4.95533e-41	1	1	0	T	80790046	G	T	80790046	2	4	22	1	0	0	0	0	0	0	0	1	18182	929	33	2		2	ZNF750	17	80790046	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1294	80790046	405164	17280	19426											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	147					0	0	1	0	0	T	80887372	C	T	80887372	3	4	22	1	0	0	0	0	1	0	0	0	15693	893	31	1	3113	1	TBCD	17	80887372	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97326	80887372	307838	17281	19427											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:163369A>G	ENST00000261601.6	+	2	169	c.78A>G	c.(76-78)ccA>ccG	p.P26P	USP14_ENST00000400266.3_Silent_p.P26P|USP14_ENST00000383589.2_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)	26	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													49	181					0	0	1	0	0	G	163369	A	G	163369	2	3	22	1	0	0	0	0	0	0	0	1	17105	117	5	3		3	USP14	18	163369	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08		163369	77913879	17282	19428											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:197615G>T	ENST00000261601.6	+	8	685		c.e8-1		USP14_ENST00000400266.3_Splice_Site|USP14_ENST00000383589.2_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													34	208					1.836e-18	2.03801e-18	1	1	0	T	197615	G	T	197615	5	4	22	1	0	0	0	0	0	0	1	0	17105	1014	35	2	624	2	USP14	18	197615	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34246	197615	77879633	17283	19429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	64					0	0	1	0	0	G	265360	T	G	265360	3	3	22	1	0	0	0	0	1	0	0	0	15924	1838	64	3	1917	3	THOC1	18	265360	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	67745	265360	77811888	17284	19430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	39					0.00909568	0.00914726	1	1	0	A	265516	C	A	265516	3	1	22	1	0	0	0	0	1	0	0	0	15924	680	24	2	1984	2	THOC1	18	265516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	156	265516	77811732	17285	19431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_569057.1	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													65	290					2.6711e-34	3.17551e-34	1	1	0	A	335154	C	A	335154	3	1	22	1	0	0	0	0	1	0	0	0	3735	912	32	2	844	2	COLEC12	18	335154	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69638	335154	77742094	17286	19432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_569057.1	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													62	303					0	0	1	0	0	T	335176	C	T	335176	3	4	22	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	17287	19433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_569057.1	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													67	264					0	0	1	0	0	T	480749	C	T	480749	3	4	22	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	17288	19434											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	344					0	0	1	0	0	T	580753	C	T	580753	2	4	22	1	0	0	0	0	0	0	0	1	3296	535	19	1		1	CETN1	18	580753	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100004	580753	77496495	17289	19435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	460					0	0	1	0	0	T	670816	C	T	670816	2	4	22	1	0	0	0	0	0	0	0	1	16874	874	31	1		1	TYMS	18	670816	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90063	670816	77406432	17290	19436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ENOSF1_ENST00000319815.6_3'UTR|ENOSF1_ENST00000383578.3_3'UTR|TYMS_ENST00000323224.7_Missense_Mutation_p.I273S|TYMS_ENST00000581920.1_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													110	592					0	0	1	0	0	G	672975	T	G	672975	3	3	22	1	0	0	0	0	1	0	0	0	16874	1493	52	3	946	3	TYMS	18	672975	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2159	672975	77404273	17291	19437											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000580982.1_Missense_Mutation_p.G61D|ENOSF1_ENST00000340116.7_Missense_Mutation_p.G82D	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													80	395					0	0	1	0	0	T	706481	C	T	706481	3	4	22	1	0	0	0	0	1	0	0	0	5153	739	26	2	1209	2	ENOSF1	18	706481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33506	706481	77370767	17292	19438											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000577961.1_Missense_Mutation_p.S60I|YES1_ENST00000577611.1_5'UTR|YES1_ENST00000314574.4_Missense_Mutation_p.S55I			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													133	643					2.82259e-58	3.53906e-58	1	1	0	A	756664	C	A	756664	3	1	22	1	0	0	0	0	1	0	0	0	17534	797	28	2	1511	2	YES1	18	756664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50183	756664	77320584	17293	19439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SMCHD1_ENST00000261598.8_Missense_Mutation_p.A717V|RP11-703M24.5_ENST00000583546.1_RNA	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													13	54					0	0	1	0	0	T	2707808	C	T	2707808	3	4	22	1	0	0	0	0	1	0	0	0	14842	768	27	1	2216	1	SMCHD1	18	2707808	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1951144	2707808	75369440	17294	19440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	247					0	0	1	0	0	A	2890564	G	A	2890564	3	1	22	1	0	0	0	0	1	0	0	0	5122	1291	45	2	453	2	EMILIN2	18	2890564	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	182756	2890564	75186684	17295	19441											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	235					0	0	1	0	0	G	2920375	A	G	2920375	2	3	22	1	0	0	0	0	0	0	0	1	8964	98	4	3		3	LPIN2	18	2920375	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29811	2920375	75156873	17296	19442											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													127	416					0	0	1	0	0	T	2937906	C	T	2937906	3	4	22	1	0	0	0	0	1	0	0	0	8964	864	30	2	1794	2	LPIN2	18	2937906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17531	2937906	75139342	17297	19443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400569.3_Missense_Mutation_p.P540H|MYOM1_ENST00000261606.7_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													21	79					3.51602e-12	3.76992e-12	1	1	0	T	3154969	G	T	3154969	3	4	22	1	0	0	0	0	1	0	0	0	10139	1000	35	2	3550	2	MYOM1	18	3154969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217063	3154969	74922279	17298	19444											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400569.3_Missense_Mutation_p.A383D|MYOM1_ENST00000261606.7_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													35	194					1.96642e-18	2.182e-18	1	1	0	T	3173962	G	T	3173962	3	4	22	1	0	0	0	0	1	0	0	0	10139	971	34	2	4033	2	MYOM1	18	3173962	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18993	3173962	74903286	17299	19445											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400569.3_Missense_Mutation_p.D100N|MYOM1_ENST00000261606.7_Missense_Mutation_p.D100N|RP13-270P17.2_ENST00000580139.1_RNA	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													5	131					0	0	1	0	0	T	3193949	C	T	3193949	3	4	22	1	0	0	0	0	1	0	0	0	10139	913	32	2	4903	2	MYOM1	18	3193949	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19987	3193949	74883299	17300	19446											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000581527.1_Missense_Mutation_p.K640E|DLGAP1_ENST00000400150.3_Missense_Mutation_p.K356E|DLGAP1_ENST00000584874.1_Missense_Mutation_p.K640E|DLGAP1_ENST00000400155.1_Missense_Mutation_p.K346E|DLGAP1_ENST00000515196.2_Missense_Mutation_p.K640E|DLGAP1_ENST00000400145.2_Missense_Mutation_p.K338E|DLGAP1_ENST00000400149.3_Missense_Mutation_p.K330E|DLGAP1_ENST00000581699.1_Missense_Mutation_p.K346E|DLGAP1_ENST00000539435.1_Missense_Mutation_p.K348E|DLGAP1_ENST00000534970.1_Missense_Mutation_p.K324E|DLGAP1_ENST00000400147.2_Missense_Mutation_p.K338E	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													12	557					0	0	1	0	0	C	3581920	T	C	3581920	3	2	22	1	0	0	0	0	1	0	0	0	4587	1792	62	3	1039	3	DLGAP1	18	3581920	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	387971	3581920	74495328	17301	19447	128	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000581527.1_Missense_Mutation_p.R639M|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R355M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R639M|DLGAP1_ENST00000400155.1_Missense_Mutation_p.R345M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R639M|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R337M|DLGAP1_ENST00000400149.3_Missense_Mutation_p.R329M|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R345M|DLGAP1_ENST00000539435.1_Missense_Mutation_p.R347M|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R323M|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R337M	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													114	456					1.54984e-59	1.94674e-59	1	1	0	A	3581922	C	A	3581922	3	1	22	1	0	0	0	0	1	0	0	0	4587	681	24	2	1041	2	DLGAP1	18	3581922	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2	3581922	74495326	17302	19448	128	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000581527.1_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000400150.3_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000584874.1_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000400155.1_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000515196.2_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000400145.2_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000400149.3_Nonsense_Mutation_p.Q30*|DLGAP1_ENST00000581699.1_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000539435.1_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000534970.1_Nonsense_Mutation_p.Q34*|DLGAP1_ENST00000400147.2_Nonsense_Mutation_p.Q20*	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													90	439					0	0	1	0	0	A	3814267	G	A	3814267	4	1	22	1	0	0	0	0	0	1	0	0	4587	1386	48	2	2005	2	DLGAP1	18	3814267	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	232345	3814267	74262981	17303	19449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000581527.1_Missense_Mutation_p.R109W|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R109W|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_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													112	484					0	0	1	0	0	A	3879744	G	A	3879744	3	1	22	1	0	0	0	0	1	0	0	0	4587	1086	38	1	2703	1	DLGAP1	18	3879744	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65477	3879744	74197504	17304	19450											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_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													70	218					4.98926e-31	5.86552e-31	1	1	0	A	5415823	C	A	5415823	3	1	22	1	0	0	0	0	1	0	0	0	5182	680	24	2	1242	2	EPB41L3	18	5415823	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1536079	5415823	72661425	17305	19451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540638.2_Silent_p.R324R|EPB41L3_ENST00000400111.3_Silent_p.R324R|EPB41L3_ENST00000542652.2_5'UTR	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													25	757					0	0	1	0	0	A	5428405	G	A	5428405	2	1	22	1	0	0	0	0	0	0	0	1	5182	1074	38	1		1	EPB41L3	18	5428405	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12582	5428405	72648843	17306	19452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5891977C>T	ENST00000581347.1	-	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	29						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CTTGGCTTTCCGCTTGCGCTT	0.612													46	146					0	0	1	0	0	T	5891977	C	T	5891977	3	4	22	1	0	0	0	0	1	0	0	0	16185	652	23	1	1783	1	TMEM200C	18	5891977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	463572	5891977	72185271	17307	19453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000317931.7_Missense_Mutation_p.L520F|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.L529F|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.L333F	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													43	400					0	0	1	0	0	A	5969448	G	A	5969448	3	1	22	1	0	0	0	0	1	0	0	0	8633	971	34	2	298	2	L3MBTL4	18	5969448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77471	5969448	72107800	17308	19454											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000317931.7_Nonsense_Mutation_p.W56*|L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.W56*|L3MBTL4_ENST00000284898.6_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													41	259					0	0	1	0	0	T	6263998	C	T	6263998	4	4	22	1	0	0	0	0	0	1	0	0	8633	595	21	2	1768	2	L3MBTL4	18	6263998	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	294550	6263998	71813250	17309	19455											
ARHGAP28	79822	broad.mit.edu	37	chr18	6837372	6837372	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaaggataagcaatctAtcagggatgtcagagacatt	11	5	3	1	rs2303978		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6837372A>G	ENST00000419673.2	+	2	242	c.25A>G	c.(25-27)Atc>Gtc	p.I9V	ARHGAP28_ENST00000400091.2_Missense_Mutation_p.I168V|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.I168V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.I9V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.I9V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.I116V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.I9V	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	0					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)				TAAGCAATCTATCAGGGATGT	0.468													53	236					0	0	1	0	0	G	6837372	A	G	6837372	3	3	22	1	0	0	0	0	1	0	0	0	874	449	16	3	27	3	ARHGAP28	18	6837372	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	573374	6837372	71239876	17310	19456											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400091.2_Missense_Mutation_p.P259L|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.P259L|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.P82L|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.P95L|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.P100L|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													24	201					0	0	1	0	0	T	6868198	C	T	6868198	3	4	22	1	0	0	0	0	1	0	0	0	874	652	23	1	313	1	ARHGAP28	18	6868198	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30826	6868198	71209050	17311	19457											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	271					0	0	1	0	0	G	6943388	A	G	6943388	3	3	22	1	0	0	0	0	1	0	0	0	8644	275	10	3	377	3	LAMA1	18	6943388	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75190	6943388	71133860	17312	19458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	251					0	0	1	0	0	T	6947173	C	T	6947173	3	4	22	1	0	0	0	0	1	0	0	0	8644	478	17	2	406	2	LAMA1	18	6947173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3785	6947173	71130075	17313	19459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	182					0	0	1	0	0	C	6948455	T	C	6948455	3	2	22	1	0	0	0	0	1	0	0	0	8644	1638	57	3	586	3	LAMA1	18	6948455	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1282	6948455	71128793	17314	19460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	356					0	0	1	0	0	C	6973184	T	C	6973184	3	2	22	1	0	0	0	0	1	0	0	0	8644	1551	54	3	2649	3	LAMA1	18	6973184	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24729	6973184	71104064	17315	19461											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	111					0	0	1	0	0	A	7013955	G	A	7013955	2	1	22	1	0	0	0	0	0	0	0	1	8644	1079	38	1		1	LAMA1	18	7013955	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40771	7013955	71063293	17316	19462											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	532					0	0	1	0	0	A	7015724	G	A	7015724	2	1	22	1	0	0	0	0	0	0	0	1	8644	1195	42	2		2	LAMA1	18	7015724	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1769	7015724	71061524	17317	19463											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	374					0	0	1	0	0	G	7034541	A	G	7034541	3	3	22	1	0	0	0	0	1	0	0	0	8644	72	3	3	7439	3	LAMA1	18	7034541	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18817	7034541	71042707	17318	19464											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7043403T>C	ENST00000389658.3	-	8	1071	c.976_splice	c.e8-1	p.A326_splice		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													14	385					0	0	1	0	0	C	7043403	T	C	7043403	5	2	22	1	0	0	0	0	0	0	1	0	8644	1478	51	3	8473	3	LAMA1	18	7043403	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8862	7043403	71033845	17319	19465											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	401					0	0	1	0	0	T	7231272	C	T	7231272	3	4	22	1	0	0	0	0	1	0	0	0	9030	759	27	1	138	1	LRRC30	18	7231272	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187869	7231272	70845976	17320	19466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400060.4_Missense_Mutation_p.F154L|PTPRM_ENST00000400053.4_Missense_Mutation_p.F92L	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													69	412					0	0	1	0	0	G	7888369	T	G	7888369	3	3	22	1	0	0	0	0	1	0	0	0	12858	1838	64	3	472	3	PTPRM	18	7888369	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	657097	7888369	70188879	17321	19467											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400060.4_Missense_Mutation_p.R211M|PTPRM_ENST00000400053.4_Missense_Mutation_p.R149M	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													52	275					4.78724e-31	5.62855e-31	1	1	0	T	7926650	G	T	7926650	3	4	22	1	0	0	0	0	1	0	0	0	12858	1000	35	2	650	2	PTPRM	18	7926650	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38281	7926650	70150598	17322	19468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Missense_Mutation_p.S470R|PTPRM_ENST00000400060.4_Missense_Mutation_p.S470R|PTPRM_ENST00000444013.1_Missense_Mutation_p.S257R|PTPRM_ENST00000400053.4_Missense_Mutation_p.S408R	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													23	115					1.10513e-12	1.18868e-12	1	1	0	A	8069961	C	A	8069961	3	1	22	1	0	0	0	0	1	0	0	0	12858	738	26	2	1440	2	PTPRM	18	8069961	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143311	8069961	70007287	17323	19469											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Missense_Mutation_p.T636M|PTPRM_ENST00000400060.4_Missense_Mutation_p.T636M|PTPRM_ENST00000444013.1_Missense_Mutation_p.T423M|PTPRM_ENST00000400053.4_Missense_Mutation_p.T574M	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													67	291					0	0	1	0	0	T	8113534	C	T	8113534	3	4	22	1	0	0	0	0	1	0	0	0	12858	536	19	1	1953	1	PTPRM	18	8113534	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43573	8113534	69963714	17324	19470											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400060.4_Silent_p.C802C|PTPRM_ENST00000444013.1_Silent_p.C589C|PTPRM_ENST00000400053.4_Silent_p.C740C	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													78	373					0	0	1	0	0	T	8244161	C	T	8244161	2	4	22	1	0	0	0	0	0	0	0	1	12858	776	27	1		1	PTPRM	18	8244161	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130627	8244161	69833087	17325	19471											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332175.8_Intron|PTPRM_ENST00000400060.4_Intron|PTPRM_ENST00000444013.1_Intron|PTPRM_ENST00000400053.4_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													45	284					0	0	1	0	0	T	8252488	C	T	8252488	3	4	22	1	0	0	0	0	1	0	0	0	12858	739	26	2	2627	2	PTPRM	18	8252488	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8327	8252488	69824760	17326	19472											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400060.4_Missense_Mutation_p.H1276Y|PTPRM_ENST00000444013.1_Missense_Mutation_p.H1049Y|PTPRM_ENST00000400053.4_Missense_Mutation_p.H1200Y	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													52	279					0	0	1	0	0	T	8380330	C	T	8380330	3	4	22	1	0	0	0	0	1	0	0	0	12858	710	25	2	3937	2	PTPRM	18	8380330	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127842	8380330	69696918	17327	19473											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9255009C>T	ENST00000383440.2	+	8	1932	c.1675C>T	c.(1675-1677)Cgg>Tgg	p.R559W	ANKRD12_ENST00000400020.3_Missense_Mutation_p.R559W|ANKRD12_ENST00000262126.3_Missense_Mutation_p.R582W	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	582						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													59	269					0	0	1	0	0	T	9255009	C	T	9255009	3	4	22	1	0	0	0	0	1	0	0	0	636	875	31	1	1774	1	ANKRD12	18	9255009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	874679	9255009	68822239	17328	19474											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	297					0	0	1	0	0	T	9359999	C	T	9359999	2	4	22	1	0	0	0	0	0	0	0	1	16847	697	25	2		2	TWSG1	18	9359999	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104990	9359999	68717249	17329	19475											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	251					0	0	1	0	0	A	9513171	G	A	9513171	3	1	22	1	0	0	0	0	1	0	0	0	13064	1087	38	1	130	1	RALBP1	18	9513171	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153172	9513171	68564077	17330	19476											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	123					0	0	1	0	0	T	9535870	C	T	9535870	3	4	22	1	0	0	0	0	1	0	0	0	13064	739	26	2	1937	2	RALBP1	18	9535870	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22699	9535870	68541378	17331	19477											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	587					0	0	1	0	0	T	9559502	C	T	9559502	3	4	22	1	0	0	0	0	1	0	0	0	12452	797	28	2	937	2	PPP4R1	18	9559502	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23632	9559502	68517746	17332	19478											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	426					0	0	1	0	0	G	9570435	T	G	9570435	3	3	22	1	0	0	0	0	1	0	0	0	12452	1490	52	3	1599	3	PPP4R1	18	9570435	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10933	9570435	68506813	17333	19479											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000584255.1_Missense_Mutation_p.Y58H|TXNDC2_ENST00000357775.4_5'UTR|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_5'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													52	215					0	0	1	0	0	C	9886595	T	C	9886595	3	2	22	1	0	0	0	0	1	0	0	0	16859	1764	61	3	125	3	TXNDC2	18	9886595	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	316160	9886595	68190653	17334	19480											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9887884C>T	ENST00000306084.6	+	2	1607	c.1408C>T	c.(1408-1410)Ctg>Ttg	p.L470L	TXNDC2_ENST00000577697.1_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.L403L|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	470	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						CGGGGAGAGGCTGGTGGCTGT	0.572													48	155					0	0	1	0	0	T	9887884	C	T	9887884	2	4	22	1	0	0	0	0	0	0	0	1	16859	796	28	2		2	TXNDC2	18	9887884	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1289	9887884	68189364	17335	19481											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9888089G>A	ENST00000306084.6	+	2	1812	c.1613G>A	c.(1612-1614)tGc>tAc	p.C538Y	TXNDC2_ENST00000577697.1_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.C471Y|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	538	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													23	133					0	0	1	0	0	A	9888089	G	A	9888089	3	1	22	1	0	0	0	0	1	0	0	0	16859	1319	46	2	1619	2	TXNDC2	18	9888089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205	9888089	68189159	17336	19482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:10471563G>A	ENST00000355285.4	+	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	93					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													58	265					0	0	1	0	0	A	10471563	G	A	10471563	2	1	22	1	0	0	0	0	0	0	0	1	761	1252	44	2		2	APCDD1	18	10471563	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	583474	10471563	67605685	17337	19483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344987.7_Missense_Mutation_p.V194I|MPPE1_ENST00000309976.9_Missense_Mutation_p.V194I|MPPE1_ENST00000317235.7_Missense_Mutation_p.V194I|MPPE1_ENST00000399978.2_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													5	197					0	0	1	0	0	T	11887014	C	T	11887014	3	4	22	1	0	0	0	0	1	0	0	0	9789	507	18	2	630	2	MPPE1	18	11887014	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1415451	11887014	66190234	17338	19484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588752.1_3'UTR|IMPA2_ENST00000589238.1_5'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													29	178					0	0	1	0	0	T	12014290	C	T	12014290	2	4	22	1	0	0	0	0	0	0	0	1	7767	718	25	2		2	IMPA2	18	12014290	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127276	12014290	66062958	17339	19485											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	399					0	0	1	0	0	T	12262855	C	T	12262855	4	4	22	1	0	0	0	0	0	1	0	0	3447	760	27	1	220	1	CIDEA	18	12262855	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248565	12262855	65814393	17340	19486											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	253					0	0	1	0	0	T	12264367	C	T	12264367	3	4	22	1	0	0	0	0	1	0	0	0	3447	507	18	2	399	2	CIDEA	18	12264367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1512	12264367	65812881	17341	19487											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_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													222	932					0	0	1	0	0	A	12325894	G	A	12325894	3	1	22	1	0	0	0	0	1	0	0	0	16822	1203	42	2	1120	2	TUBB6	18	12325894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61527	12325894	65751354	17342	19488											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	507					0	0	1	0	0	T	12353089	C	T	12353089	2	4	22	1	0	0	0	0	0	0	0	1	359	639	23	1		1	AFG3L2	18	12353089	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27195	12353089	65724159	17343	19489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	238					2.18419e-29	2.55125e-29	1	1	0	A	12358738	C	A	12358738	3	1	22	1	0	0	0	0	1	0	0	0	359	912	32	2	1476	2	AFG3L2	18	12358738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5649	12358738	65718510	17344	19490											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	567					2.27111e-07	2.35674e-07	1	1	0	A	12367285	C	A	12367285	3	1	22	1	0	0	0	0	1	0	0	0	359	681	24	2	2060	2	AFG3L2	18	12367285	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8547	12367285	65709963	17345	19491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP11-973H7.2_ENST00000585331.1_RNA	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													59	300					0	0	1	0	0	T	12686292	C	T	12686292	3	4	22	1	0	0	0	0	1	0	0	0	3283	710	25	2	908	2	CEP76	18	12686292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	319007	12686292	65390956	17346	19492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP11-973H7.2_ENST00000585331.1_RNA|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													45	330					0	0	1	0	0	T	12699159	C	T	12699159	2	4	22	1	0	0	0	0	0	0	0	1	3283	593	21	2		2	CEP76	18	12699159	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12867	12699159	65378089	17347	19493											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591115.1_Missense_Mutation_p.H157Y|PTPN2_ENST00000591497.1_Missense_Mutation_p.H128Y|PTPN2_ENST00000353319.4_Missense_Mutation_p.H157Y|PTPN2_ENST00000327283.3_Missense_Mutation_p.H157Y	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													10	270					0	0	1	0	0	A	12825835	G	A	12825835	3	1	22	1	0	0	0	0	1	0	0	0	12835	1377	48	2	824	2	PTPN2	18	12825835	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126676	12825835	65251413	17348	19494											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	418					0	0	1	0	0	A	12955494	G	A	12955494	4	1	22	1	0	0	0	0	0	1	0	0	14063	1241	43	2	205	2	SEH1L	18	12955494	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129659	12955494	65121754	17349	19495											
SEH1L	81929	broad.mit.edu	37	chr18	12986927	12986929	+	In_Frame_Del	DEL	TCC	TCC	-													tccagttatgcccagctcctTcctcctcctcctcctcctct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12986927_12986929delTCC	ENST00000399892.2	+	9	1238_1240	c.1137_1139delTCC	c.(1135-1140)ctt>ct	p.LP379del	RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000262124.11_3'UTR	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	0					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						CCCAGCTCCTtcctcctcctcct	0.522													12	276	---	---	---	---						-	12986929	TCC	-	12986927	7	5	22	1	0	1	0	1	0	0	0	0	14063	1770	62	0	1188	0	SEH1L	18	12986927	In_Frame_Del	DEL	TCC	TCGA-IB-7651-01A-11D-2154-08	31433	12986927	65090321	17350	19496											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	452					0	0	1	0	0	T	13059253	C	T	13059253	3	4	22	1	0	0	0	0	1	0	0	0	3273	710	25	2	4508	2	CEP192	18	13059253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72326	13059253	65017995	17351	19497											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	424					0	0	1	0	0	A	13059273	G	A	13059273	3	1	22	1	0	0	0	0	1	0	0	0	3273	1145	40	1	4528	1	CEP192	18	13059273	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	13059273	65017975	17352	19498											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	456					0	0	1	0	0	A	13068922	G	A	13068922	3	1	22	1	0	0	0	0	1	0	0	0	3273	1145	40	1	4988	1	CEP192	18	13068922	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9649	13068922	65008326	17353	19499											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													409	1639					0	0	1	0	0	A	13826258	G	A	13826258	3	1	22	1	0	0	0	0	1	0	0	0	9417	1203	42	2	496	2	MC5R	18	13826258	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	757336	13826258	64250990	17354	19500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	277					0	0	1	0	0	C	13884791	T	C	13884791	3	2	22	1	0	0	0	0	1	0	0	0	9414	1667	58	3	170	3	MC2R	18	13884791	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	58533	13884791	64192457	17355	19501											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	230					1.76056e-25	2.02043e-25	1	1	0	T	13884825	G	T	13884825	4	4	22	1	0	0	0	0	0	1	0	0	9414	963	34	2	204	2	MC2R	18	13884825	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	13884825	64192423	17356	19502											
ZNF519	162655	broad.mit.edu	37	chr18	14105441	14105441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccggtatggattctctgGtgttgagtaaggtatgaccc	12	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:14105441G>A	ENST00000590202.1	-	3	1250	c.1098C>T	c.(1096-1098)caC>caT	p.H366H	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GGATTCTCTGGTGTTGAGTAA	0.423													114	544					0	0	1	0	0	A	14105441	G	A	14105441	2	1	22	1	0	0	0	0	0	0	0	1	18021	1252	44	2		2	ZNF519	18	14105441	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	220616	14105441	63971807	17357	19503											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:18588085C>A	ENST00000399799.1	-	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	494	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													32	149					1.7881e-09	1.88299e-09	1	1	0	A	18588085	C	A	18588085	3	1	22	1	0	0	0	0	1	0	0	0	13569	913	32	2	2663	2	ROCK1	18	18588085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4482644	18588085	59489163	17358	19504											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:18622107C>T	ENST00000399799.1	-	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	304	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													15	406					0	0	1	0	0	T	18622107	C	T	18622107	3	4	22	1	0	0	0	0	1	0	0	0	13569	826	29	2	3258	2	ROCK1	18	18622107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34022	18622107	59455141	17359	19505											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	70					1.15088e-07	1.19614e-07	1	1	0	A	19144199	C	A	19144199	4	1	22	1	0	0	0	0	0	1	0	0	5276	922	32	2	760	2	ESCO1	18	19144199	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	522092	19144199	58933049	17360	19506											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	298					0	0	1	0	0	C	19147945	A	C	19147945	3	2	22	1	0	0	0	0	1	0	0	0	5276	243	9	3	913	3	ESCO1	18	19147945	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3746	19147945	58929303	17361	19507											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													205	815					0	0	1	0	0	G	19154572	T	G	19154572	3	3	22	1	0	0	0	0	1	0	0	0	5276	1841	64	3	2325	3	ESCO1	18	19154572	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6627	19154572	58922676	17362	19508											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000580981.1_Silent_p.Q57Q|ABHD3_ENST00000579875.1_5'UTR|ABHD3_ENST00000578270.1_5'UTR	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													38	224					0	0	1	0	0	T	19283700	C	T	19283700	2	4	22	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	17363	19509											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19437203C>T	ENST00000261537.6	+	19	3042	c.2779_splice	c.e19+1	p.I926_splice	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													39	182					0	0	1	0	0	T	19437203	C	T	19437203	5	4	22	1	0	0	0	0	0	0	1	0	9615	927	32	2	2852	2	MIB1	18	19437203	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153503	19437203	58640045	17364	19510											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360790.5_Missense_Mutation_p.R536C|RBBP8_ENST00000399725.2_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					54	215					0	0	1	0	0	T	20573396	C	T	20573396	3	4	22	1	0	0	0	0	1	0	0	0	13157	652	23	1	1644	1	RBBP8	18	20573396	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1136193	20573396	57503852	17365	19511											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	68					1.5842e-08	1.65642e-08	1	1	0	T	20716380	G	T	20716380	3	4	22	1	0	0	0	0	1	0	0	0	2547	991	35	2	656	2	CABLES1	18	20716380	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	142984	20716380	57360868	17366	19512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000400473.2_Missense_Mutation_p.G109C|CABLES1_ENST00000585061.1_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													18	632					4.35082e-09	4.56966e-09	1	1	0	T	20815979	G	T	20815979	3	4	22	1	0	0	0	0	1	0	0	0	2547	1000	35	2	1382	2	CABLES1	18	20815979	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99599	20815979	57261269	17367	19513											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000577501.1_Missense_Mutation_p.R326H|RIOK3_ENST00000581585.1_Missense_Mutation_p.R310H	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													38	144					0	0	1	0	0	A	21053554	G	A	21053554	3	1	22	1	0	0	0	0	1	0	0	0	13431	1087	38	1	1007	1	RIOK3	18	21053554	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237575	21053554	57023694	17368	19514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000577501.1_Silent_p.H434H|RIOK3_ENST00000581585.1_Silent_p.H418H	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													101	385					0	0	1	0	0	T	21057190	C	T	21057190	2	4	22	1	0	0	0	0	0	0	0	1	13431	535	19	1		1	RIOK3	18	21057190	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3636	21057190	57020058	17369	19515											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	306					0	0	1	0	0	C	21083650	T	C	21083650	3	2	22	1	0	0	0	0	1	0	0	0	1919	1667	58	3	70	3	C18orf8	18	21083650	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26460	21083650	56993598	17370	19516											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	503					0	0	1	0	0	C	21084355	T	C	21084355	2	2	22	1	0	0	0	0	0	0	0	1	1919	1683	59	3		3	C18orf8	18	21084355	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	705	21084355	56992893	17371	19517											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	344					1.06801e-11	1.14091e-11	1	1	0	A	21106645	C	A	21106645	3	1	22	1	0	0	0	0	1	0	0	0	1919	913	32	2	1155	2	C18orf8	18	21106645	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22290	21106645	56970603	17372	19518											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	170					0	0	1	0	0	A	21116663	G	A	21116663	2	1	22	1	0	0	0	0	0	0	0	1	10617	1306	46	2		2	NPC1	18	21116663	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10018	21116663	56960585	17373	19519											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000412552.2_Nonsense_Mutation_p.C481*|NPC1_ENST00000540608.1_5'UTR	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													72	371					2.48295e-43	3.03066e-43	1	1	0	T	21121149	G	T	21121149	4	4	22	1	0	0	0	0	0	1	0	0	10617	963	34	2	1479	2	NPC1	18	21121149	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4486	21121149	56956099	17374	19520											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000412552.2_Missense_Mutation_p.I231V|NPC1_ENST00000540608.1_5'UTR	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													46	195					0	0	1	0	0	C	21134834	T	C	21134834	3	2	22	1	0	0	0	0	1	0	0	0	10617	1464	51	3	2463	3	NPC1	18	21134834	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13685	21134834	56942414	17375	19521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	313					0	0	1	0	0	C	21148813	T	C	21148813	3	2	22	1	0	0	0	0	1	0	0	0	10617	1638	57	3	3487	3	NPC1	18	21148813	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13979	21148813	56928435	17376	19522											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	389					0.000442599	0.000448314	1	1	0	A	21390456	C	A	21390456	3	1	22	1	0	0	0	0	1	0	0	0	8646	623	22	2	1780	2	LAMA3	18	21390456	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	241643	21390456	56686792	17377	19523											
LAMA3	3909	broad.mit.edu	37	chr18	21444821	21444822	+	Frame_Shift_Ins	INS	-	-	A													tggcgacatggttcttctggINSaaaagaagccggatgtacag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21444821_21444822insA	ENST00000313654.9	+	36	4898_4899	c.4657_4658insA	c.(4657-4659)aaafs	p.K1553fs	LAMA3_ENST00000399516.3_Frame_Shift_Ins_p.K1553fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1553	Laminin IV type A.				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)	GGTTCTTCTGGAAAAGAAGCCG	0.446													27	266	---	---	---	---						A	21444822	-	A	21444821	7	5	22	1	0	1	1	0	0	0	0	0	8646	1175	41	0	4799	0	LAMA3	18	21444821	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	54365	21444821	56632427	17378	19524											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000269217.6_Silent_p.D857D|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.D801D|LAMA3_ENST00000399516.3_Silent_p.D2410D	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													48	221					0	0	1	0	0	T	21494442	C	T	21494442	2	4	22	1	0	0	0	0	0	0	0	1	8646	506	18	2		2	LAMA3	18	21494442	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49621	21494442	56582806	17379	19525											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000269217.6_Missense_Mutation_p.Q1015H|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.Q959H|LAMA3_ENST00000399516.3_Missense_Mutation_p.Q2568H	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													28	695					9.80776e-20	1.0954e-19	1	1	0	T	21496608	G	T	21496608	3	4	22	1	0	0	0	0	1	0	0	0	8646	933	33	2	8285	2	LAMA3	18	21496608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2166	21496608	56580640	17380	19526											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000269217.6_Nonsense_Mutation_p.C1365*|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.C1309*|LAMA3_ENST00000399516.3_Nonsense_Mutation_p.C2918*	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													36	857					9.45814e-24	1.07742e-23	1	1	0	A	21519246	C	A	21519246	4	1	22	1	0	0	0	0	0	1	0	0	8646	805	28	2	9367	2	LAMA3	18	21519246	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22638	21519246	56558002	17381	19527											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000269217.6_Silent_p.Q1523Q|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.Q1467Q|LAMA3_ENST00000399516.3_Silent_p.Q3076Q	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													51	264					0	0	1	0	0	A	21529773	G	A	21529773	2	1	22	1	0	0	0	0	0	0	0	1	8646	962	34	2		2	LAMA3	18	21529773	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10527	21529773	56547475	17382	19528											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-403A21.3_ENST00000578443.1_RNA|TTC39C_ENST00000304621.6_Missense_Mutation_p.D188Y	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													8	260					0.0477658	0.0478703	1	1	0	T	21660833	G	T	21660833	3	4	22	1	0	0	0	0	1	0	0	0	16771	942	33	2	763	2	TTC39C	18	21660833	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131060	21660833	56416415	17383	19529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399499.1_Silent_p.S155S|CABYR_ENST00000581397.1_Silent_p.S155S|CABYR_ENST00000415309.2_Silent_p.S155S|CABYR_ENST00000327201.6_Silent_p.S57S|CABYR_ENST00000399496.3_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													17	467					0	0	1	0	0	G	21735930	A	G	21735930	2	3	22	1	0	0	0	0	0	0	0	1	2554	146	6	3		3	CABYR	18	21735930	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75097	21735930	56341318	17384	19530											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399443.3_Nonsense_Mutation_p.E172*|OSBPL1A_ENST00000357041.4_Nonsense_Mutation_p.E303*	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													74	313					1.2582e-26	1.451e-26	1	1	0	A	21758017	C	A	21758017	4	1	22	1	0	0	0	0	0	1	0	0	11324	922	32	2	831	2	OSBPL1A	18	21758017	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22087	21758017	56319231	17385	19531											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399443.3_5'UTR|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.S101Y	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													46	236					5.2432e-18	5.80754e-18	1	1	0	T	21805159	G	T	21805159	3	4	22	1	0	0	0	0	1	0	0	0	11324	1174	41	2	1452	2	OSBPL1A	18	21805159	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47142	21805159	56272089	17386	19532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_060909.1	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													73	313					0	0	1	0	0	A	22029853	G	A	22029853	3	1	22	1	0	0	0	0	1	0	0	0	7768	1087	38	1	868	1	IMPACT	18	22029853	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	224694	22029853	56047395	17387	19533											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538137.2_Missense_Mutation_p.I1085S|ZNF521_ENST00000584787.1_Missense_Mutation_p.I865S	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								12	406					0	0	1	0	0	C	22804628	A	C	22804628	3	2	22	1	0	0	0	0	1	0	0	0	18022	333	12	3	701	3	ZNF521	18	22804628	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	774775	22804628	55272620	17388	19534											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538137.2_Missense_Mutation_p.R1021H|ZNF521_ENST00000584787.1_Missense_Mutation_p.R801H	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								47	212					0	0	1	0	0	T	22804820	C	T	22804820	3	4	22	1	0	0	0	0	1	0	0	0	18022	768	27	1	893	1	ZNF521	18	22804820	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192	22804820	55272428	17389	19535											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538137.2_Missense_Mutation_p.F514V|ZNF521_ENST00000584787.1_Missense_Mutation_p.F294V	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								71	294					0	0	1	0	0	C	22806342	A	C	22806342	3	2	22	1	0	0	0	0	1	0	0	0	18022	72	3	3	2415	3	ZNF521	18	22806342	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1522	22806342	55270906	17390	19536											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538137.2_Missense_Mutation_p.V354M|ZNF521_ENST00000584787.1_Missense_Mutation_p.V134M	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								83	274					0	0	1	0	0	T	22806822	C	T	22806822	3	4	22	1	0	0	0	0	1	0	0	0	18022	536	19	1	2895	1	ZNF521	18	22806822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	480	22806822	55270426	17391	19537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538137.2_Missense_Mutation_p.C248Y|ZNF521_ENST00000584787.1_Missense_Mutation_p.C28Y	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								14	407					0	0	1	0	0	T	22807139	C	T	22807139	3	4	22	1	0	0	0	0	1	0	0	0	18022	710	25	2	3212	2	ZNF521	18	22807139	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	317	22807139	55270109	17392	19538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000579111.1_5'UTR|ZNF521_ENST00000538137.2_Silent_p.S60S|ZNF521_ENST00000584787.1_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								88	433					0	0	1	0	0	A	22902012	G	A	22902012	2	1	22	1	0	0	0	0	0	0	0	1	18022	1078	38	1		1	ZNF521	18	22902012	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94873	22902012	55175236	17393	19539											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545952.1_Missense_Mutation_p.P284S|SS18_ENST00000542420.2_Missense_Mutation_p.P344S|SS18_ENST00000539849.1_Missense_Mutation_p.P285S|SS18_ENST00000269137.7_Missense_Mutation_p.P336S|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								60	342					0	0	1	0	0	A	23612494	G	A	23612494	3	1	22	1	0	0	0	0	1	0	0	0	15231	1174	41	2	165	2	SS18	18	23612494	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	710482	23612494	54464754	17394	19540											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	288					3.40343e-31	4.00304e-31	1	1	0	A	23866093	C	A	23866093	3	1	22	1	0	0	0	0	1	0	0	0	15584	797	28	2	1246	2	TAF4B	18	23866093	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	253599	23866093	54211155	17395	19541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	414					2.48941e-46	3.05722e-46	1	1	0	A	23866330	C	A	23866330	3	1	22	1	0	0	0	0	1	0	0	0	15584	681	24	2	1483	2	TAF4B	18	23866330	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	237	23866330	54210918	17396	19542											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000580059.1_Silent_p.D104D|KCTD1_ENST00000317932.7_Silent_p.D104D|KCTD1_ENST00000408011.3_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													15	571					0	0	1	0	0	A	24039887	G	A	24039887	2	1	22	1	0	0	0	0	0	0	0	1	8140	1020	36	2		2	KCTD1	18	24039887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	173557	24039887	54037361	17397	19543											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000580059.1_Silent_p.I56I|KCTD1_ENST00000317932.7_Silent_p.I56I|KCTD1_ENST00000408011.3_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													40	122					0	0	1	0	0	A	24056620	G	A	24056620	2	1	22	1	0	0	0	0	0	0	0	1	8140	1048	37	1		1	KCTD1	18	24056620	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16733	24056620	54020628	17398	19544											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.D402N|CHST9_ENST00000580774.1_3'UTR	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													127	607					0	0	1	0	0	T	24496351	C	T	24496351	3	4	22	1	0	0	0	0	1	0	0	0	3433	884	31	1	131	1	CHST9	18	24496351	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	439731	24496351	53580897	17399	19545											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.A317T|CHST9_ENST00000580774.1_3'UTR	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													165	772					0	0	1	0	0	T	24496606	C	T	24496606	3	4	22	1	0	0	0	0	1	0	0	0	3433	710	25	2	386	2	CHST9	18	24496606	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255	24496606	53580642	17400	19546											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Silent_p.T78T|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													53	213					0	0	1	0	0	A	24524299	G	A	24524299	2	1	22	1	0	0	0	0	0	0	0	1	3433	1335	47	2		2	CHST9	18	24524299	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27693	24524299	53552949	17401	19547											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	218					0	0	1	0	0	A	25565534	G	A	25565534	3	1	22	1	0	0	0	0	1	0	0	0	3127	1174	41	2	807	2	CDH2	18	25565534	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1041235	25565534	52511714	17402	19548											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	208					0	0	1	0	0	T	25570308	C	T	25570308	3	4	22	1	0	0	0	0	1	0	0	0	3127	884	31	1	1397	1	CDH2	18	25570308	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4774	25570308	52506940	17403	19549											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	250					0	0	1	0	0	A	25572675	G	A	25572675	3	1	22	1	0	0	0	0	1	0	0	0	3127	1144	40	1	1464	1	CDH2	18	25572675	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2367	25572675	52504573	17404	19550											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	279					0	0	1	0	0	G	28576801	T	G	28576801	3	3	22	1	0	0	0	0	1	0	0	0	4793	1696	59	3	280	3	DSC3	18	28576801	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3004126	28576801	49500447	17405	19551											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	247					0	0	1	0	0	G	28586953	A	G	28586953	3	3	22	1	0	0	0	0	1	0	0	0	4793	275	10	3	933	3	DSC3	18	28586953	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10152	28586953	49490295	17406	19552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	75					0	0	1	0	0	A	28588089	G	A	28588089	3	1	22	1	0	0	0	0	1	0	0	0	4793	1261	44	2	1189	2	DSC3	18	28588089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1136	28588089	49489159	17407	19553											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	239					0	0	1	0	0	T	28602455	C	T	28602455	2	4	22	1	0	0	0	0	0	0	0	1	4793	610	22	2		2	DSC3	18	28602455	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14366	28602455	49474793	17408	19554											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	131					0	0	1	0	0	A	28605830	G	A	28605830	3	1	22	1	0	0	0	0	1	0	0	0	4793	1145	40	1	2243	1	DSC3	18	28605830	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3375	28605830	49471418	17409	19555											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	287					0	0	1	0	0	C	28662229	T	C	28662229	3	2	22	1	0	0	0	0	1	0	0	0	4792	1493	52	3	1539	3	DSC2	18	28662229	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	56399	28662229	49415019	17410	19556											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	263					1.08241e-25	1.24348e-25	1	1	0	A	28669454	C	A	28669454	3	1	22	1	0	0	0	0	1	0	0	0	4792	855	30	2	2215	2	DSC2	18	28669454	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7225	28669454	49407794	17411	19557											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	215					0	0	1	0	0	T	28672188	C	T	28672188	3	4	22	1	0	0	0	0	1	0	0	0	4792	507	18	2	2571	2	DSC2	18	28672188	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2734	28672188	49405060	17412	19558											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	204					1.02687e-29	1.20094e-29	1	1	0	A	28672216	C	A	28672216	3	1	22	1	0	0	0	0	1	0	0	0	4792	826	29	2	2599	2	DSC2	18	28672216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28	28672216	49405032	17413	19559											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													130	558					0	0	1	0	0	G	28710482	T	G	28710482	3	3	22	1	0	0	0	0	1	0	0	0	4791	1792	62	3	8	3	DSC1	18	28710482	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38266	28710482	49366766	17414	19560											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	398					0	0	1	0	0	A	28725591	G	A	28725591	3	1	22	1	0	0	0	0	1	0	0	0	4791	1261	44	2	1842	2	DSC1	18	28725591	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15109	28725591	49351657	17415	19561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Nonsense_Mutation_p.R246*|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	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													123	553					0	0	1	0	0	T	28934818	C	T	28934818	4	4	22	1	0	0	0	0	0	1	0	0	4802	760	27	1	2717	1	DSG1	18	28934818	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209227	28934818	49142430	17416	19562											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G325C|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	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													157	701					4.8073e-73	6.11803e-73	1	1	0	T	28935055	G	T	28935055	3	4	22	1	0	0	0	0	1	0	0	0	4802	1348	47	2	2954	2	DSG1	18	28935055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237	28935055	49142193	17417	19563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	235					0	0	1	0	0	T	28983528	C	T	28983528	3	4	22	1	0	0	0	0	1	0	0	0	4805	855	30	2	1609	2	DSG4	18	28983528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48473	28983528	49093720	17418	19564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	469					0	0	1	0	0	G	28992915	A	G	28992915	3	3	22	1	0	0	0	0	1	0	0	0	4805	275	10	3	2663	3	DSG4	18	28992915	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9387	28992915	49084333	17419	19565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	425					7.30829e-53	9.0986e-53	1	1	0	A	29055872	C	A	29055872	2	1	22	1	0	0	0	0	0	0	0	1	4804	668	24	2		2	DSG3	18	29055872	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62957	29055872	49021376	17420	19566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	99					0	0	1	0	0	C	29115361	T	C	29115361	3	2	22	1	0	0	0	0	1	0	0	0	4803	1696	59	3	1447	3	DSG2	18	29115361	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	59489	29115361	48961887	17421	19567											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	245					0	0	1	0	0	T	29118725	C	T	29118725	2	4	22	1	0	0	0	0	0	0	0	1	4803	796	28	2		2	DSG2	18	29118725	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3364	29118725	48958523	17422	19568											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	166					4.3181e-19	4.80867e-19	1	1	0	T	30321972	G	T	30321972	3	4	22	1	0	0	0	0	1	0	0	0	8413	962	34	2	926	2	KLHL14	18	30321972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1203247	30321972	47755276	17423	19569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	KLHL14_ENST00000358095.4_Missense_Mutation_p.R265H|AC012123.1_ENST00000426194.1_5'UTR	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													85	381					0	0	1	0	0	T	30349761	C	T	30349761	3	4	22	1	0	0	0	0	1	0	0	0	8413	768	27	1	1124	1	KLHL14	18	30349761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27789	30349761	47727487	17424	19570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	KLHL14_ENST00000358095.4_Missense_Mutation_p.L135M|AC012123.1_ENST00000426194.1_Intron	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													138	641					4.21949e-90	5.41566e-90	1	1	0	T	30350152	G	T	30350152	3	4	22	1	0	0	0	0	1	0	0	0	8413	962	34	2	1515	2	KLHL14	18	30350152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	391	30350152	47727096	17425	19571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	KLHL14_ENST00000358095.4_Silent_p.L125L|AC012123.1_ENST00000426194.1_Intron	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													134	643					0	0	1	0	0	A	30350182	G	A	30350182	2	1	22	1	0	0	0	0	0	0	0	1	8413	991	35	2		2	KLHL14	18	30350182	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30	30350182	47727066	17426	19572											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	36	157					0	0	1	0	0	T	31324318	C	T	31324318	2	4	22	1	0	0	0	0	0	0	0	1	1067	697	25	2		2	ASXL3	18	31324318	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	974136	31324318	46752930	17427	19573											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	234					0	0	1	0	0	T	31325027	C	T	31325027	3	4	22	1	0	0	0	0	1	0	0	0	1067	884	31	1	5261	1	ASXL3	18	31325027	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	709	31325027	46752221	17428	19574											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													161	634					0	0	1	0	0	A	31326314	G	A	31326314	3	1	22	1	0	0	0	0	1	0	0	0	1067	971	34	2	6548	2	ASXL3	18	31326314	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1287	31326314	46750934	17429	19575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000269185.4_Missense_Mutation_p.G348R|NOL4_ENST00000538587.1_Missense_Mutation_p.G490R|NOL4_ENST00000589544.1_Missense_Mutation_p.G462R	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													65	997					0	0	1	0	0	G	31463241	C	G	31463241	3	3	22	1	0	0	0	0	1	0	0	0	10571	623	22	5	234	5	NOL4	18	31463241	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136927	31463241	46614007	17430	19576											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000269185.4_Intron|NOL4_ENST00000538587.1_Silent_p.Q439Q|NOL4_ENST00000589544.1_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													73	310					0	0	1	0	0	T	31523032	C	T	31523032	2	4	22	1	0	0	0	0	0	0	0	1	10571	796	28	2		2	NOL4	18	31523032	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59791	31523032	46554216	17431	19577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000269185.4_Intron|NOL4_ENST00000538587.1_Nonsense_Mutation_p.R351*|NOL4_ENST00000589544.1_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													30	179					0	0	1	0	0	A	31537445	G	A	31537445	4	1	22	1	0	0	0	0	0	1	0	0	10571	1124	39	1	659	1	NOL4	18	31537445	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14413	31537445	46539803	17432	19578											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413393.1_Missense_Mutation_p.R100C|MAPRE2_ENST00000300249.5_Missense_Mutation_p.R143C|MAPRE2_ENST00000588910.1_Missense_Mutation_p.R143C|MAPRE2_ENST00000538170.2_Missense_Mutation_p.R90C|MAPRE2_ENST00000589699.1_Missense_Mutation_p.R100C	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													56	292					0	0	1	0	0	T	32681940	C	T	32681940	3	4	22	1	0	0	0	0	1	0	0	0	9345	536	19	1	535	1	MAPRE2	18	32681940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1144495	32681940	45395308	17433	19579											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413393.1_Missense_Mutation_p.P267S|MAPRE2_ENST00000300249.5_Missense_Mutation_p.P310S|MAPRE2_ENST00000538170.2_Missense_Mutation_p.P257S|MAPRE2_ENST00000589699.1_Missense_Mutation_p.P267S	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													19	109					0	0	1	0	0	T	32720277	C	T	32720277	3	4	22	1	0	0	0	0	1	0	0	0	9345	739	26	2	1048	2	MAPRE2	18	32720277	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38337	32720277	45356971	17434	19580											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	472					0	0	1	0	0	A	32917607	G	A	32917607	2	1	22	1	0	0	0	0	0	0	0	1	17850	987	35	2		2	ZNF24	18	32917607	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	197330	32917607	45159641	17435	19581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399061.3_Missense_Mutation_p.R82M|ZNF24_ENST00000261332.6_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													96	902					6.64032e-35	7.9137e-35	1	1	0	A	32920370	C	A	32920370	3	1	22	1	0	0	0	0	1	0	0	0	17850	681	24	2	873	2	ZNF24	18	32920370	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2763	32920370	45156878	17436	19582											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000441607.2_Missense_Mutation_p.P122S|INO80C_ENST00000586489.1_Missense_Mutation_p.P31S|INO80C_ENST00000334598.7_Missense_Mutation_p.P86S|INO80C_ENST00000590757.1_Intron|RP11-322E11.6_ENST00000589258.1_Intron			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													70	330					0	0	1	0	0	A	33060428	G	A	33060428	3	1	22	1	0	0	0	0	1	0	0	0	7792	1174	41	2	338	2	INO80C	18	33060428	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140058	33060428	45016820	17437	19583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537549.1_5'UTR|GALNT1_ENST00000591081.1_Missense_Mutation_p.A12S	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													28	135					2.44723e-14	2.65813e-14	1	1	0	T	33234660	G	T	33234660	3	4	22	1	0	0	0	0	1	0	0	0	6247	971	34	2	36	2	GALNT1	18	33234660	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174232	33234660	44842588	17438	19584											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	270					0	0	1	0	0	A	33557545	G	A	33557545	3	1	22	1	0	0	0	0	1	0	0	0	1908	971	34	2	487	2	C18orf21	18	33557545	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	322885	33557545	44519703	17439	19585											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	264					0	0	1	0	0	A	33780166	G	A	33780166	3	1	22	1	0	0	0	0	1	0	0	0	9738	1087	38	1	834	1	MOCOS	18	33780166	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222621	33780166	44297082	17440	19586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	191					0	0	1	0	0	A	33795562	G	A	33795562	2	1	22	1	0	0	0	0	0	0	0	1	9738	1045	37	1		1	MOCOS	18	33795562	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15396	33795562	44281686	17441	19587											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	196					0	0	1	0	0	A	33935590	G	A	33935590	3	1	22	1	0	0	0	0	1	0	0	0	5916	1203	42	2	260	2	FHOD3	18	33935590	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140028	33935590	44141658	17442	19588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	850					0	0	1	0	0	A	34205676	G	A	34205676	3	1	22	1	0	0	0	0	1	0	0	0	5916	971	34	2	1198	2	FHOD3	18	34205676	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270086	34205676	43871572	17443	19589											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000587493.1_3'UTR|FHOD3_ENST00000591635.1_Intron|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													110	482					0	0	1	0	0	G	34289191	A	G	34289191	2	3	22	1	0	0	0	0	0	0	0	1	5916	146	6	3		3	FHOD3	18	34289191	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	83515	34289191	43788057	17444	19590											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000592128.1_5'UTR|FHOD3_ENST00000591635.1_Missense_Mutation_p.A198T|FHOD3_ENST00000359247.4_Missense_Mutation_p.A985T|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													29	341					0	0	1	0	0	A	34310720	G	A	34310720	3	1	22	1	0	0	0	0	1	0	0	0	5916	1087	38	1	3070	1	FHOD3	18	34310720	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21529	34310720	43766528	17445	19591											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543923.1_Silent_p.R422R|KIAA1328_ENST00000280020.5_Silent_p.R530R			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													21	116					0	0	1	0	0	T	34802046	C	T	34802046	2	4	22	1	0	0	0	0	0	0	0	1	8267	784	28	2		2	KIAA1328	18	34802046	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	491326	34802046	43275202	17446	19592											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543923.1_Intron|KIAA1328_ENST00000280020.5_Missense_Mutation_p.R545Q			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													14	87					0	0	1	0	0	A	34802090	G	A	34802090	3	1	22	1	0	0	0	0	1	0	0	0	8267	1058	37	1	1672	1	KIAA1328	18	34802090	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44	34802090	43275158	17447	19593											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591287.1_Silent_p.E434E|CELF4_ENST00000588597.1_Silent_p.E424E|CELF4_ENST00000591282.1_Silent_p.E436E|CELF4_ENST00000361795.5_Silent_p.E434E|CELF4_ENST00000603232.1_Silent_p.E435E|CELF4_ENST00000412753.1_Silent_p.E435E|CELF4_ENST00000601019.1_Silent_p.E434E|CELF4_ENST00000334919.5_Intron	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													29	145					0	0	1	0	0	T	34839169	C	T	34839169	2	4	22	1	0	0	0	0	0	0	0	1	3240	796	28	2		2	CELF4	18	34839169	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37079	34839169	43238079	17448	19594											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591287.1_Missense_Mutation_p.A309T|CELF4_ENST00000588597.1_Missense_Mutation_p.A299T|CELF4_ENST00000591282.1_Missense_Mutation_p.A310T|CELF4_ENST00000361795.5_Missense_Mutation_p.A308T|CELF4_ENST00000603232.1_Missense_Mutation_p.A309T|CELF4_ENST00000412753.1_Missense_Mutation_p.A309T|CELF4_ENST00000601019.1_Missense_Mutation_p.A308T|CELF4_ENST00000334919.5_Missense_Mutation_p.A300T	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													52	261					0	0	1	0	0	T	34853000	C	T	34853000	3	4	22	1	0	0	0	0	1	0	0	0	3240	768	27	1	556	1	CELF4	18	34853000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13831	34853000	43224248	17449	19595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000593098.1_Missense_Mutation_p.F169C|PIK3C3_ENST00000589056.1_Missense_Mutation_p.F31C|PIK3C3_ENST00000398870.3_Missense_Mutation_p.F621C|PIK3C3_ENST00000587402.1_Missense_Mutation_p.F31C	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)			100	463					0	0	1	0	0	G	39620653	T	G	39620653	3	3	22	1	0	0	0	0	1	0	0	0	11960	1841	64	3	2125	3	PIK3C3	18	39620653	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4767653	39620653	38456595	17450	19596											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000593098.1_Missense_Mutation_p.F189L|PIK3C3_ENST00000589056.1_Missense_Mutation_p.F51L|PIK3C3_ENST00000398870.3_Missense_Mutation_p.F641L|PIK3C3_ENST00000587402.1_Missense_Mutation_p.F51L	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)			78	281					0	0	1	0	0	A	39623705	T	A	39623705	3	1	22	1	0	0	0	0	1	0	0	0	11960	1751	61	5	2190	5	PIK3C3	18	39623705	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3052	39623705	38453543	17451	19597											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590752.1_Missense_Mutation_p.F230C|SYT4_ENST00000586678.1_Intron	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													69	281					0	0	1	0	0	C	40853651	A	C	40853651	3	2	22	1	0	0	0	0	1	0	0	0	15533	14	1	3	546	3	SYT4	18	40853651	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1229946	40853651	37223597	17452	19598											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590752.1_Silent_p.S169S|SYT4_ENST00000586678.1_Intron	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													72	256					0	0	1	0	0	T	40853833	C	T	40853833	2	4	22	1	0	0	0	0	0	0	0	1	15533	871	31	1		1	SYT4	18	40853833	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182	40853833	37223415	17453	19599											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				33	205					0	0	1	0	0	T	42531860	C	T	42531860	3	4	22	1	0	0	0	0	1	0	0	0	14183	536	19	1	2758	1	SETBP1	18	42531860	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1678027	42531860	35545388	17454	19600											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				43	244					0	0	1	0	0	T	42643106	C	T	42643106	3	4	22	1	0	0	0	0	1	0	0	0	14183	759	27	1	4445	1	SETBP1	18	42643106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111246	42643106	35434142	17455	19601											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	530					0	0	1	0	0	T	43224100	C	T	43224100	2	4	22	1	0	0	0	0	0	0	0	1	14452	767	27	1		1	SLC14A2	18	43224100	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	580994	43224100	34853148	17456	19602											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|SLC14A2_ENST00000586448.1_Silent_p.P885P|RP11-116O18.3_ENST00000589510.1_RNA	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													184	800					2.26964e-86	2.91009e-86	1	1	0	T	43262376	G	T	43262376	2	4	22	1	0	0	0	0	0	0	0	1	14452	1074	38	4		4	SLC14A2	18	43262376	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38276	43262376	34814872	17457	19603											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398752.6_Missense_Mutation_p.R186W|ATP5A1_ENST00000282050.2_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													8	365					0	0	1	0	0	A	43669626	G	A	43669626	3	1	22	1	0	0	0	0	1	0	0	0	1146	1086	38	1	1137	1	ATP5A1	18	43669626	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	407250	43669626	34407622	17458	19604											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398752.6_Nonsense_Mutation_p.R171*|ATP5A1_ENST00000282050.2_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													66	313					0	0	1	0	0	A	43669671	G	A	43669671	4	1	22	1	0	0	0	0	0	1	0	0	1146	1095	38	1	1182	1	ATP5A1	18	43669671	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	43669671	34407577	17459	19605											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_659492.1	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													65	349					0	0	1	0	0	T	43842923	A	T	43842923	3	4	22	1	0	0	0	0	1	0	0	0	1910	304	11	5	1068	5	C18orf25	18	43842923	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	173252	43842923	34234325	17460	19606											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	90					0.00024832	0.000252053	1	1	0	T	44035936	G	T	44035936	5	4	22	1	0	0	0	0	0	0	1	0	13508	985	34	2	842	2	RNF165	18	44035936	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	193013	44035936	34041312	17461	19607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538168.1_Missense_Mutation_p.R296H|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.R229H	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													20	144					0	0	1	0	0	T	44260357	C	T	44260357	3	4	22	1	0	0	0	0	1	0	0	0	15291	768	27	1	355	1	ST8SIA5	18	44260357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	224421	44260357	33816891	17462	19608											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538168.1_Silent_p.A25A|ST8SIA5_ENST00000536490.1_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													64	349					0	0	1	0	0	A	44336397	G	A	44336397	2	1	22	1	0	0	0	0	0	0	0	1	15291	987	35	2		2	ST8SIA5	18	44336397	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76040	44336397	33740851	17463	19609											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000324794.7_Missense_Mutation_p.Q133H|PIAS2_ENST00000545673.1_Intron	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													41	170					1.96642e-18	2.182e-18	1	1	0	A	44470643	C	A	44470643	3	1	22	1	0	0	0	0	1	0	0	0	11924	796	28	2	1593	2	PIAS2	18	44470643	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134246	44470643	33606605	17464	19610											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000324794.7_Silent_p.S47S|PIAS2_ENST00000545673.1_Intron	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													64	483					0	0	1	0	0	A	44470901	G	A	44470901	2	1	22	1	0	0	0	0	0	0	0	1	11924	1078	38	1		1	PIAS2	18	44470901	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	258	44470901	33606347	17465	19611											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_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													97	2638					0	0	1	0	0	A	44549187	G	A	44549187	3	1	22	1	0	0	0	0	1	0	0	0	15744	1145	40	1	2175	1	TCEB3CL	18	44549187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78286	44549187	33528061	17466	19612											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_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													80	2653					5.45024e-15	5.94044e-15	1	1	0	T	44549200	G	T	44549200	3	4	22	1	0	0	0	0	1	0	0	0	15744	933	33	2	2188	2	TCEB3CL	18	44549200	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13	44549200	33528048	17467	19613											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_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													141	730					0	0	1	0	0	A	44559411	G	A	44559411	3	1	22	1	0	0	0	0	1	0	0	0	15742	1319	46	2	40	2	TCEB3B	18	44559411	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10211	44559411	33517837	17468	19614											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_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													28	821					1.7881e-09	1.88299e-09	1	1	0	T	44560824	G	T	44560824	3	4	22	1	0	0	0	0	1	0	0	0	15742	1203	42	2	1453	2	TCEB3B	18	44560824	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1413	44560824	33516424	17469	19615											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_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													62	280					0	0	1	0	0	T	44561072	C	T	44561072	2	4	22	1	0	0	0	0	0	0	0	1	15742	755	27	1		1	TCEB3B	18	44561072	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248	44561072	33516176	17470	19616											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	HDHD2_ENST00000587841.1_Intron|IER3IP1_ENST00000588705.1_3'UTR	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													36	206					0	0	1	0	0	T	44662797	C	T	44662797	3	4	22	1	0	0	0	0	1	0	0	0	7064	536	19	1	789	1	HDHD2	18	44662797	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101725	44662797	33414451	17471	19617											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	255					0	0	1	0	0	A	46448083	G	A	46448083	3	1	22	1	0	0	0	0	1	0	0	0	14817	1086	38	1	344	1	SMAD7	18	46448083	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1785286	46448083	31629165	17472	19618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	240					0	0	1	0	0	A	46448237	G	A	46448237	2	1	22	1	0	0	0	0	0	0	0	1	14817	1079	38	1		1	SMAD7	18	46448237	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154	46448237	31629011	17473	19619											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	234					0	0	1	0	0	T	46808509	A	T	46808509	3	4	22	1	0	0	0	0	1	0	0	0	4866	246	9	5	1058	5	DYM	18	46808509	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	360272	46808509	31268739	17474	19620											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													129	525					0	0	1	0	0	T	46812850	C	T	46812850	2	4	22	1	0	0	0	0	0	0	0	1	4866	755	27	1		1	DYM	18	46812850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4341	46812850	31264398	17475	19621											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000580036.1_Missense_Mutation_p.R54H|LIPG_ENST00000577628.1_Missense_Mutation_p.R90H|LIPG_ENST00000427224.2_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													52	223					0	0	1	0	0	A	47091750	G	A	47091750	3	1	22	1	0	0	0	0	1	0	0	0	8864	1087	38	1	167	1	LIPG	18	47091750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278900	47091750	30985498	17476	19622											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000580036.1_Silent_p.G251G|LIPG_ENST00000577628.1_Silent_p.G287G|LIPG_ENST00000427224.2_Intron	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													41	178					0	0	1	0	0	T	47101920	C	T	47101920	2	4	22	1	0	0	0	0	0	0	0	1	8864	784	28	2		2	LIPG	18	47101920	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10170	47101920	30975328	17477	19623											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	175					9.57592e-29	1.11608e-28	1	1	0	T	47110052	G	T	47110052	3	4	22	1	0	0	0	0	1	0	0	0	8864	991	35	2	1314	2	LIPG	18	47110052	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8132	47110052	30967196	17478	19624	129	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	169					0	0	1	0	0	A	47110060	G	A	47110060	3	1	22	1	0	0	0	0	1	0	0	0	8864	1087	38	1	1322	1	LIPG	18	47110060	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	47110060	30967188	17479	19625	129	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MYO5B_ENST00000324581.6_Missense_Mutation_p.A848T|SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.A56T|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													31	230					0	0	1	0	0	T	47363197	C	T	47363197	3	4	22	1	0	0	0	0	1	0	0	0	10127	797	28	2	361	2	MYO5B	18	47363197	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	253137	47363197	30714051	17480	19626											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MYO5B_ENST00000324581.6_Silent_p.N805N|SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Silent_p.N13N|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													53	195					0	0	1	0	0	A	47363955	G	A	47363955	2	1	22	1	0	0	0	0	0	0	0	1	10127	1136	40	1		1	MYO5B	18	47363955	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	758	47363955	30713293	17481	19627											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MYO5B_ENST00000324581.6_Silent_p.D591D|SCARNA17_ENST00000589499.1_RNA|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													33	346					0	0	1	0	0	A	47373547	G	A	47373547	2	1	22	1	0	0	0	0	0	0	0	1	10127	1136	40	1		1	MYO5B	18	47373547	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9592	47373547	30703701	17482	19628											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													223	1081					0	0	1	0	0	C	47390710	T	C	47390710	3	2	22	1	0	0	0	0	1	0	0	0	10127	1667	58	3	1954	3	MYO5B	18	47390710	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17163	47390710	30686538	17483	19629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	2023					1.39649e-27	1.61833e-27	1	1	0	T	47398552	G	T	47398552	2	4	22	1	0	0	0	0	0	0	0	1	10127	987	35	2		2	MYO5B	18	47398552	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7842	47398552	30678696	17484	19630											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	138					0	0	1	0	0	T	47429162	C	T	47429162	2	4	22	1	0	0	0	0	0	0	0	1	10127	697	25	2		2	MYO5B	18	47429162	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30610	47429162	30648086	17485	19631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	391					0	0	1	0	0	A	47500787	G	A	47500787	3	1	22	1	0	0	0	0	1	0	0	0	10127	1319	46	2	4415	2	MYO5B	18	47500787	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71625	47500787	30576461	17486	19632											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													127	571					0	0	1	0	0	T	47787442	C	T	47787442	2	4	22	1	0	0	0	0	0	0	0	1	2764	796	28	2		2	CCDC11	18	47787442	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286655	47787442	30289806	17487	19633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000339998.6_Missense_Mutation_p.R18H|MBD1_ENST00000588937.1_Missense_Mutation_p.R18H|MBD1_ENST00000587605.1_Missense_Mutation_p.R18H|MBD1_ENST00000585672.1_Missense_Mutation_p.R18H|MBD1_ENST00000398495.2_Missense_Mutation_p.R18H|MBD1_ENST00000590208.1_Missense_Mutation_p.R18H|MBD1_ENST00000585595.1_Missense_Mutation_p.R18H|MBD1_ENST00000457839.2_Missense_Mutation_p.R18H|MBD1_ENST00000436910.1_Missense_Mutation_p.R18H|MBD1_ENST00000424334.2_Missense_Mutation_p.R44H|MBD1_ENST00000398488.1_Missense_Mutation_p.R18H|MBD1_ENST00000398493.1_Missense_Mutation_p.R18H|MBD1_ENST00000382948.5_Missense_Mutation_p.R18H|MBD1_ENST00000353909.3_Missense_Mutation_p.R18H|MBD1_ENST00000347968.3_Missense_Mutation_p.R18H|MBD1_ENST00000349085.2_Missense_Mutation_p.R18H|MBD1_ENST00000269468.5_Missense_Mutation_p.R18H|MBD1_ENST00000269471.5_Missense_Mutation_p.R18H|MBD1_ENST00000591535.1_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													44	237					0	0	1	0	0	T	47806310	C	T	47806310	3	4	22	1	0	0	0	0	1	0	0	0	9392	768	27	1	2018	1	MBD1	18	47806310	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18868	47806310	30270938	17488	19634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	119					0	0	1	0	0	T	47809894	C	T	47809894	3	4	22	1	0	0	0	0	1	0	0	0	4120	768	27	1	421	1	CXXC1	18	47809894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3584	47809894	30267354	17489	19635											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	290					0	0	1	0	0	A	47811382	T	A	47811382	3	1	22	1	0	0	0	0	1	0	0	0	4120	1667	58	5	1116	5	CXXC1	18	47811382	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1488	47811382	30265866	17490	19636											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47911724G>A	ENST00000285116.3	+	5	660		c.e5+1		SKA1_ENST00000398452.2_Splice_Site|SKA1_ENST00000417656.2_Intron|SKA1_ENST00000488454.1_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													45	277					0	0	1	0	0	A	47911724	G	A	47911724	5	1	22	1	0	0	0	0	0	0	1	0	14407	1159	40	1	464	1	SKA1	18	47911724	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100342	47911724	30165524	17491	19637											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	372					0	0	1	0	0	T	48255532	C	T	48255532	3	4	22	1	0	0	0	0	1	0	0	0	9330	623	22	2	1090	2	MAPK4	18	48255532	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	343808	48255532	29821716	17492	19638											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	337					0	0	1	0	0	T	48255600	C	T	48255600	2	4	22	1	0	0	0	0	0	0	0	1	9330	755	27	1		1	MAPK4	18	48255600	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68	48255600	29821648	17493	19639											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	158					0	0	1	0	0	G	48446897	A	G	48446897	3	3	22	1	0	0	0	0	1	0	0	0	9468	391	14	3	832	3	ME2	18	48446897	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	191297	48446897	29630351	17494	19640											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	262					0	0	1	0	0	T	48447034	C	T	48447034	3	4	22	1	0	0	0	0	1	0	0	0	9468	478	17	2	878	2	ME2	18	48447034	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137	48447034	29630214	17495	19641											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588745.1_Missense_Mutation_p.R400H|SMAD4_ENST00000586253.1_3'UTR	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													92	296					0	0	1	0	0	A	48604665	G	A	48604665	3	1	22	1	0	0	0	0	1	0	0	0	14814	1145	40	1	1529	1	SMAD4	18	48604665	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157631	48604665	29472583	17496	19642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	210					0	0	1	0	0	A	50278519	G	A	50278519	3	1	22	1	0	0	0	0	1	0	0	0	4305	1087	38	1	193	1	DCC	18	50278519	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1673854	50278519	27798729	17497	19643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000581580.1_Missense_Mutation_p.L70I|DCC_ENST00000580146.1_3'UTR	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													91	311					1.68508e-47	2.07469e-47	1	1	0	A	50592518	C	A	50592518	3	1	22	1	0	0	0	0	1	0	0	0	4305	797	28	2	1269	2	DCC	18	50592518	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	313999	50592518	27484730	17498	19644											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	343					0	0	1	0	0	T	51686244	C	T	51686244	3	4	22	1	0	0	0	0	1	0	0	0	9393	768	27	1	100	1	MBD2	18	51686244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1093726	51686244	26391004	17499	19645											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	261					0	0	1	0	0	A	51686260	G	A	51686260	4	1	22	1	0	0	0	0	0	1	0	0	9393	1095	38	1	116	1	MBD2	18	51686260	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16	51686260	26390988	17500	19646											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													138	666					0	0	1	0	0	G	51715256	T	G	51715256	3	3	22	1	0	0	0	0	1	0	0	0	9393	1722	60	3	423	3	MBD2	18	51715256	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28996	51715256	26361992	17501	19647											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000583046.1_Missense_Mutation_p.G173D|MBD2_ENST00000398398.2_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													13	140					0	0	1	0	0	T	51750412	C	T	51750412	3	4	22	1	0	0	0	0	1	0	0	0	9393	739	26	2	952	2	MBD2	18	51750412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35156	51750412	26326836	17502	19648											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000406285.3_Intron|POLI_ENST00000579434.1_Missense_Mutation_p.R106W	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)					144	649					0	0	1	0	0	T	51807102	C	T	51807102	3	4	22	1	0	0	0	0	1	0	0	0	12251	759	27	1	643	1	POLI	18	51807102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56690	51807102	26270146	17503	19649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	259					0	0	1	0	0	T	51851195	C	T	51851195	3	4	22	1	0	0	0	0	1	0	0	0	15317	855	30	2	135	2	STARD6	18	51851195	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44093	51851195	26226053	17504	19650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	228					0	0	1	0	0	G	51851233	A	G	51851233	2	3	22	1	0	0	0	0	0	0	0	1	15317	108	4	3		3	STARD6	18	51851233	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	38	51851233	26226015	17505	19651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	225					0	0	1	0	0	C	51889266	T	C	51889266	3	2	22	1	0	0	0	0	1	0	0	0	1915	1435	50	3	725	3	C18orf54	18	51889266	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38033	51889266	26187982	17506	19652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000582188.1_3'UTR|C18orf54_ENST00000578138.1_Silent_p.Q78Q	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													21	464					0	0	1	0	0	G	51898889	A	G	51898889	2	3	22	1	0	0	0	0	0	0	0	1	1915	11	1	3		3	C18orf54	18	51898889	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9623	51898889	26178359	17507	19653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000570177.2_Missense_Mutation_p.S334I|TCF4_ENST00000568740.1_Missense_Mutation_p.S439I|TCF4_ENST00000568673.1_Missense_Mutation_p.S440I|TCF4_ENST00000564403.2_Missense_Mutation_p.S470I|TCF4_ENST00000570287.2_Missense_Mutation_p.S304I|TCF4_ENST00000561831.3_Missense_Mutation_p.S304I|TCF4_ENST00000565018.2_Missense_Mutation_p.S464I|TCF4_ENST00000566279.1_Missense_Mutation_p.S404I|TCF4_ENST00000544241.2_Missense_Mutation_p.S393I|TCF4_ENST00000356073.4_Missense_Mutation_p.S464I|TCF4_ENST00000566286.1_Missense_Mutation_p.S461I|TCF4_ENST00000543082.1_Missense_Mutation_p.S422I|TCF4_ENST00000537856.3_Missense_Mutation_p.S334I|TCF4_ENST00000564999.1_Missense_Mutation_p.S464I|TCF4_ENST00000398339.1_Missense_Mutation_p.S566I|TCF4_ENST00000457482.3_Missense_Mutation_p.S304I|TCF4_ENST00000561992.1_Missense_Mutation_p.S334I|TCF4_ENST00000564228.1_Missense_Mutation_p.S393I|TCF4_ENST00000537578.1_Missense_Mutation_p.S440I|TCF4_ENST00000540999.1_Missense_Mutation_p.S440I|TCF4_ENST00000567880.1_Missense_Mutation_p.S404I	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)	82	452					9.25274e-37	1.1089e-36	1	1	0	A	52901874	C	A	52901874	3	1	22	1	0	0	0	0	1	0	0	0	15755	797	28	2	640	2	TCF4	18	52901874	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1002985	52901874	25175374	17508	19654											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000570177.2_Missense_Mutation_p.P6T|TCF4_ENST00000568740.1_Missense_Mutation_p.P111T|TCF4_ENST00000568673.1_Missense_Mutation_p.P112T|TCF4_ENST00000564403.2_Missense_Mutation_p.P136T|TCF4_ENST00000565018.2_Missense_Mutation_p.P136T|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000544241.2_Missense_Mutation_p.P65T|TCF4_ENST00000356073.4_Missense_Mutation_p.P136T|TCF4_ENST00000566286.1_Missense_Mutation_p.P134T|TCF4_ENST00000543082.1_Missense_Mutation_p.P94T|TCF4_ENST00000537856.3_Missense_Mutation_p.P6T|TCF4_ENST00000564999.1_Missense_Mutation_p.P136T|TCF4_ENST00000398339.1_Missense_Mutation_p.P238T|TCF4_ENST00000561992.1_Missense_Mutation_p.P6T|TCF4_ENST00000564228.1_Missense_Mutation_p.P65T|TCF4_ENST00000537578.1_Missense_Mutation_p.P112T|TCF4_ENST00000540999.1_Missense_Mutation_p.P112T|TCF4_ENST00000567880.1_Intron	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													75	377					8.50452e-49	1.05053e-48	1	1	0	T	53018198	G	T	53018198	3	4	22	1	0	0	0	0	1	0	0	0	15755	1232	43	2	1661	2	TCF4	18	53018198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116324	53018198	25059050	17509	19655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000568740.1_Intron|TCF4_ENST00000564403.2_Nonsense_Mutation_p.R6*|TCF4_ENST00000565018.2_Nonsense_Mutation_p.R6*|TCF4_ENST00000566279.1_Nonsense_Mutation_p.R6*|TCF4_ENST00000356073.4_Nonsense_Mutation_p.R6*|TCF4_ENST00000566286.1_Intron|TCF4_ENST00000564999.1_Nonsense_Mutation_p.R6*|TCF4_ENST00000398339.1_Nonsense_Mutation_p.R108*|TCF4_ENST00000537578.1_Intron|TCF4_ENST00000567880.1_Nonsense_Mutation_p.R6*	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													10	266					0	0	1	0	0	A	53254332	G	A	53254332	4	1	22	1	0	0	0	0	0	1	0	0	15755	1095	38	1	2071	1	TCF4	18	53254332	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	236134	53254332	24822916	17510	19656											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	22					0	0	1	0	0	C	53303063	A	C	53303063	3	2	22	1	0	0	0	0	1	0	0	0	15755	29	1	3		3	TCF4	18	53303063	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48731	53303063	24774185	17511	19657											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	191					0	0	1	0	0	T	54281785	C	T	54281785	3	4	22	1	0	0	0	0	1	0	0	0	16866	884	31	1	276	1	TXNL1	18	54281785	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	978722	54281785	23795463	17512	19658											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	485					0	0	1	0	0	T	54385226	C	T	54385226	3	4	22	1	0	0	0	0	1	0	0	0	17380	739	26	2	1656	2	WDR7	18	54385226	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103441	54385226	23692022	17513	19659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	508					0	0	1	0	0	T	54423953	C	T	54423953	3	4	22	1	0	0	0	0	1	0	0	0	17380	652	23	1	2183	1	WDR7	18	54423953	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38727	54423953	23653295	17514	19660											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	281					0	0	1	0	0	T	54547231	C	T	54547231	3	4	22	1	0	0	0	0	1	0	0	0	17380	527	19	1	3439	1	WDR7	18	54547231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123278	54547231	23530017	17515	19661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	145					2.44723e-14	2.65813e-14	1	1	0	T	55103370	G	T	55103370	3	4	22	1	0	0	0	0	1	0	0	0	10917	1203	42	2	424	2	ONECUT2	18	55103370	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	556139	55103370	22973878	17516	19662											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000592201.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.R1194Q	NM_005603.4	NP_005594.1	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													17	60					0	0	1	0	0	T	55315895	C	T	55315895	3	4	22	1	0	0	0	0	1	0	0	0	1192	652	23	1	178	1	ATP8B1	18	55315895	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212525	55315895	22761353	17517	19663											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.V310A	NM_005603.4	NP_005594.1	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													54	220					0	0	1	0	0	G	55362414	A	G	55362414	3	3	22	1	0	0	0	0	1	0	0	0	1192	275	10	3	2902	3	ATP8B1	18	55362414	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	46519	55362414	22714834	17518	19664											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000589147.1_5'UTR|ATP8B1_ENST00000283684.4_Missense_Mutation_p.R201H	NM_005603.4	NP_005594.1	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													43	158					0	0	1	0	0	T	55365052	C	T	55365052	3	4	22	1	0	0	0	0	1	0	0	0	1192	536	19	1	3241	1	ATP8B1	18	55365052	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2638	55365052	22712196	17519	19665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_Missense_Mutation_p.A282V|NEDD4L_ENST00000400345.3_Missense_Mutation_p.A290V|NEDD4L_ENST00000431212.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000382850.4_Missense_Mutation_p.A290V|NEDD4L_ENST00000256830.9_Missense_Mutation_p.A290V|NEDD4L_ENST00000435432.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000357895.5_Missense_Mutation_p.A282V|NEDD4L_ENST00000256832.7_Missense_Mutation_p.A169V|NEDD4L_ENST00000456173.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000356462.6_Missense_Mutation_p.A290V	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													25	126					0	0	1	0	0	T	55998025	C	T	55998025	3	4	22	1	0	0	0	0	1	0	0	0	10358	797	28	2	939	2	NEDD4L	18	55998025	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	632973	55998025	22079223	17520	19666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	467					0	0	1	0	0	T	56184276	C	T	56184276	3	4	22	1	0	0	0	0	1	0	0	0	541	768	27	1	728	1	ALPK2	18	56184276	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186251	56184276	21892972	17521	19667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	135	532					0	0	1	0	0	A	56246527	G	A	56246527	3	1	22	1	0	0	0	0	1	0	0	0	541	1377	48	2	5071	2	ALPK2	18	56246527	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62251	56246527	21830721	17522	19668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								36	160					0	0	1	0	0	A	56348560	G	A	56348560	3	1	22	1	0	0	0	0	1	0	0	0	9252	971	34	2	374	2	MALT1	18	56348560	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102033	56348560	21728688	17523	19669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591808.1_Silent_p.H90H|ZNF532_ENST00000589288.1_Silent_p.H90H|ZNF532_ENST00000591230.1_Silent_p.H90H|ZNF532_ENST00000591083.1_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													41	188					0	0	1	0	0	C	56585789	T	C	56585789	2	2	22	1	0	0	0	0	0	0	0	1	18029	1403	49	3		3	ZNF532	18	56585789	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	237229	56585789	21491459	17524	19670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591808.1_Silent_p.T460T|ZNF532_ENST00000589288.1_Silent_p.T460T|ZNF532_ENST00000591230.1_Silent_p.T460T|ZNF532_ENST00000591083.1_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													33	196					0	0	1	0	0	A	56586899	G	A	56586899	2	1	22	1	0	0	0	0	0	0	0	1	18029	1103	39	1		1	ZNF532	18	56586899	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1110	56586899	21490349	17525	19671											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591808.1_Missense_Mutation_p.R922H|ZNF532_ENST00000589288.1_Missense_Mutation_p.R922H|ZNF532_ENST00000591230.1_Missense_Mutation_p.R922H|ZNF532_ENST00000591083.1_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													129	662					0	0	1	0	0	A	56615358	G	A	56615358	3	1	22	1	0	0	0	0	1	0	0	0	18029	1087	38	1	2779	1	ZNF532	18	56615358	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28459	56615358	21461890	17526	19672											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591808.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000589288.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000591230.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000591083.1_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													52	293					0	0	1	0	0	T	56651207	C	T	56651207	3	4	22	1	0	0	0	0	1	0	0	0	18029	623	22	2	3445	2	ZNF532	18	56651207	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35849	56651207	21426041	17527	19673											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	185					0	0	1	0	0	T	56964052	C	T	56964052	3	4	22	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	17528	19674											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	464					0	0	1	0	0	A	57115222	G	A	57115222	3	1	22	1	0	0	0	0	1	0	0	0	2749	1190	42	2	472	2	CCBE1	18	57115222	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	151170	57115222	20962026	17529	19675											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	278					0	0	1	0	0	T	57115301	C	T	57115301	3	4	22	1	0	0	0	0	1	0	0	0	2749	739	26	2	551	2	CCBE1	18	57115301	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79	57115301	20961947	17530	19676											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	382					0	0	1	0	0	A	58038647	G	A	58038647	2	1	22	1	0	0	0	0	0	0	0	1	9416	987	35	2		2	MC4R	18	58038647	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	923346	58038647	20038601	17531	19677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	228					0	0	1	0	0	T	59217362	C	T	59217362	2	4	22	1	0	0	0	0	0	0	0	1	3128	535	19	1		1	CDH20	18	59217362	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1178715	59217362	18859886	17532	19678											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													140	668					0	0	1	0	0	T	59221564	C	T	59221564	3	4	22	1	0	0	0	0	1	0	0	0	3128	768	27	1	2084	1	CDH20	18	59221564	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4202	59221564	18855684	17533	19679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	293					0	0	1	0	0	T	59483459	C	T	59483459	3	4	22	1	0	0	0	0	1	0	0	0	13505	768	27	1	377	1	RNF152	18	59483459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	261895	59483459	18593789	17534	19680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398130.2_Missense_Mutation_p.M520V|KIAA1468_ENST00000592479.1_3'UTR			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													53	199					0	0	1	0	0	G	59899598	A	G	59899598	3	3	22	1	0	0	0	0	1	0	0	0	8278	449	16	3	1596	3	KIAA1468	18	59899598	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	416139	59899598	18177650	17535	19681											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	139					0	0	1	0	0	T	59966089	C	T	59966089	4	4	22	1	0	0	0	0	0	1	0	0	8278	827	29	2	3636	2	KIAA1468	18	59966089	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66491	59966089	18111159	17536	19682											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003839.2	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													96	467					0	0	1	0	0	T	60025520	C	T	60025520	3	4	22	1	0	0	0	0	1	0	0	0	16344	710	25	2	485	2	TNFRSF11A	18	60025520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59431	60025520	18051728	17537	19683											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003839.2	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													156	721					0	0	1	0	0	T	60029018	C	T	60029018	3	4	22	1	0	0	0	0	1	0	0	0	16344	710	25	2	748	2	TNFRSF11A	18	60029018	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3498	60029018	18048230	17538	19684											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	118					0	0	1	0	0	C	60563230	A	C	60563230	3	2	22	1	0	0	0	0	1	0	0	0	11902	40	2	3	2452	3	PHLPP1	18	60563230	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	534212	60563230	17514018	17539	19685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	420					0	0	1	0	0	A	60642662	G	A	60642662	3	1	22	1	0	0	0	0	1	0	0	0	11902	1261	44	2	3850	2	PHLPP1	18	60642662	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79432	60642662	17434586	17540	19686											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	67					0	0	1	0	0	T	60645587	C	T	60645587	2	4	22	1	0	0	0	0	0	0	0	1	11902	639	23	1		1	PHLPP1	18	60645587	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2925	60645587	17431661	17541	19687											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	68					0	0	1	0	0	T	60646154	C	T	60646154	2	4	22	1	0	0	0	0	0	0	0	1	11902	535	19	1		1	PHLPP1	18	60646154	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	567	60646154	17431094	17542	19688											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	511					0	0	1	0	0	T	61018225	C	T	61018225	3	4	22	1	0	0	0	0	1	0	0	0	8183	536	19	1	513	1	KDSR	18	61018225	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	372071	61018225	17059023	17543	19689											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	166					2.5098e-30	2.94304e-30	1	1	0	T	61058275	G	T	61058275	3	4	22	1	0	0	0	0	1	0	0	0	17273	1000	35	2	70	2	VPS4B	18	61058275	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40050	61058275	17018973	17544	19690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	337					0	0	1	0	0	A	61154290	G	A	61154290	3	1	22	1	0	0	0	0	1	0	0	0	14158	1145	40	1	286	1	SERPINB5	18	61154290	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96015	61154290	16922958	17545	19691											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	462					3.10062e-51	3.84706e-51	1	1	0	T	61231236	G	T	61231236	3	4	22	1	0	0	0	0	1	0	0	0	14153	991	35	2	546	2	SERPINB12	18	61231236	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76946	61231236	16846012	17546	19692											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	319					2.81731e-22	3.18527e-22	1	1	0	T	61261692	G	T	61261692	3	4	22	1	0	0	0	0	1	0	0	0	14154	933	33	2	594	2	SERPINB13	18	61261692	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30456	61261692	16815556	17547	19693											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	452					0	0	1	0	0	T	61305075	C	T	61305075	3	4	22	1	0	0	0	0	1	0	0	0	14157	565	20	2	125	2	SERPINB4	18	61305075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43383	61305075	16772173	17548	19694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61377552T>C	ENST00000544088.1	+	0	187				SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_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													47	207					0	0	1	0	0	C	61377552	T	C	61377552	1	2	22	0	1	0	0	0	0	0	0	0	14152	1667	58	3		3	SERPINB11	18	61377552	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	72477	61377552	16699696	17549	19695											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	527					0	0	1	0	0	A	61468118	G	A	61468118	3	1	22	1	0	0	0	0	1	0	0	0	14160	1087	38	1	638	1	SERPINB7	18	61468118	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90566	61468118	16609130	17550	19696											
SERPINB2	5055	broad.mit.edu	37	chr18	61564441	61564441	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtttggtgagaagtctgcGagcttccgggaagtaagtga	15	6	1	2	rs140108044	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61564441G>A	ENST00000457692.1	+	5	738	c.405G>A	c.(403-405)gcG>gcA	p.A135A	SERPINB2_ENST00000299502.4_Silent_p.A135A|SERPINB2_ENST00000482254.1_3'UTR	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	135					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AGAAGTCTGCGAGCTTCCGGG	0.413													13	387					0	0	1	0	0	A	61564441	G	A	61564441	2	1	22	1	0	0	0	0	0	0	0	1	14155	1045	37	1		1	SERPINB2	18	61564441	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96323	61564441	16512807	17551	19697											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	429					0	0	1	0	0	A	61582747	G	A	61582747	1	1	22	1	0	0	0	0	0	0	0	0	14151	1348	47	2		2	SERPINB10	18	61582747	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18306	61582747	16494501	17552	19698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													127	419					1.05862e-61	1.33344e-61	1	1	0	T	61600360	G	T	61600360	3	4	22	1	0	0	0	0	1	0	0	0	14151	1232	43	2	734	2	SERPINB10	18	61600360	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17613	61600360	16476888	17553	19699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542677.1_5'UTR|SERPINB8_ENST00000353706.2_Silent_p.E173E|SERPINB8_ENST00000397988.3_Silent_p.E173E	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													88	404					0	0	1	0	0	A	61650907	G	A	61650907	2	1	22	1	0	0	0	0	0	0	0	1	14161	962	34	2		2	SERPINB8	18	61650907	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50547	61650907	16426341	17554	19700											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													135	582					0	0	1	0	0	T	63547943	C	T	63547943	3	4	22	1	0	0	0	0	1	0	0	0	3137	797	28	2	2213	2	CDH7	18	63547943	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1897036	63547943	14529305	17555	19701											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_021153.2	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													166	784					0	0	1	0	0	T	64172320	C	T	64172320	3	4	22	1	0	0	0	0	1	0	0	0	3126	681	24	2	274	2	CDH19	18	64172320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	624377	64172320	13904928	17556	19702											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	218					0	0	1	0	0	T	65178608	C	T	65178608	3	4	22	1	0	0	0	0	1	0	0	0	4801	893	31	1	404	1	DSEL	18	65178608	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1006288	65178608	12898640	17557	19703											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	416					1.07597e-44	1.31721e-44	1	1	0	A	65178816	C	A	65178816	2	1	22	1	0	0	0	0	0	0	0	1	4801	523	19	4		4	DSEL	18	65178816	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208	65178816	12898432	17558	19704											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	374					1.7489e-18	1.94175e-18	1	1	0	A	65178934	C	A	65178934	3	1	22	1	0	0	0	0	1	0	0	0	4801	913	32	2	730	2	DSEL	18	65178934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118	65178934	12898314	17559	19705											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:67855345A>G	ENST00000255674.6	-	10	1590	c.1305_splice	c.e10+1	p.M435_splice	RTTN_ENST00000437017.1_Splice_Site_p.M435_splice|RTTN_ENST00000454359.1_Splice_Site_p.M435_splice	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													35	135					0	0	1	0	0	G	67855345	A	G	67855345	5	3	22	1	0	0	0	0	0	0	1	0	13789	231	8	3	5536	3	RTTN	18	67855345	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2676411	67855345	10221903	17560	19706											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	262					0	0	1	0	0	T	67863822	C	T	67863822	2	4	22	1	0	0	0	0	0	0	0	1	13789	639	23	1		1	RTTN	18	67863822	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8477	67863822	10213426	17561	19707											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	315					0	0	1	0	0	C	67992860	A	C	67992860	3	2	22	1	0	0	0	0	1	0	0	0	14972	101	4	3	958	3	SOCS6	18	67992860	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	129038	67992860	10084388	17562	19708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_620416.1	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													54	225					9.53978e-28	1.10624e-27	1	1	0	A	70417299	C	A	70417299	3	1	22	1	0	0	0	0	1	0	0	0	10386	796	28	2	70	2	NETO1	18	70417299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2424439	70417299	7659949	17563	19709											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_620416.1	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													66	291					0	0	1	0	0	T	70417673	C	T	70417673	3	4	22	1	0	0	0	0	1	0	0	0	10386	835	29	2	444	2	NETO1	18	70417673	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	374	70417673	7659575	17564	19710											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_620416.1	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													89	413					0	0	1	0	0	T	70461420	C	T	70461420	3	4	22	1	0	0	0	0	1	0	0	0	10386	864	30	2	1050	2	NETO1	18	70461420	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43747	70461420	7615828	17565	19711	130	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_620416.1	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													85	389					0	0	1	0	0	G	70461430	T	G	70461430	3	3	22	1	0	0	0	0	1	0	0	0	10386	1838	64	3	1060	3	NETO1	18	70461430	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10	70461430	7615818	17566	19712	130	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000583169.1_Missense_Mutation_p.L14V|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.L13V|NETO1_ENST00000299430.2_Missense_Mutation_p.L13V	NM_138966.3	NP_620416.1	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													4	106					0	0	1	0	0	C	70532465	A	C	70532465	3	2	22	1	0	0	0	0	1	0	0	0	10386	11	1	3	1606	3	NETO1	18	70532465	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	71035	70532465	7544783	17567	19713											
FBXO15	201456	broad.mit.edu	37	chr18	71749238	71749238	+	Frame_Shift_Del	DEL	T	T	-													gaggtaggtgttctctgttaTtttttaaatgtataacaatg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:71749238delT	ENST00000269500.5	-	9	1294	c.959delA	c.(958-960)atfs	p.N321fs	FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Frame_Shift_Del_p.N397fs	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	321										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)		TTCTCTGTTATTTTTTAAATG	0.328													32	147	---	---	---	---						-	71749238	T	-	71749238	7	5	22	1	0	1	0	1	0	0	0	0	5761	1493	52	0	353	0	FBXO15	18	71749238	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	1216773	71749238	6328010	17568	19714											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	155					3.03874e-20	3.40186e-20	1	1	0	A	71796836	C	A	71796836	3	1	22	1	0	0	0	0	1	0	0	0	5761	681	24	2	967	2	FBXO15	18	71796836	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47598	71796836	6280412	17569	19715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	152					0	0	1	0	0	A	72187265	G	A	72187265	3	1	22	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	17570	19716											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000309902.6_Silent_p.S57S|ZNF407_ENST00000577538.1_Silent_p.S57S|ZNF407_ENST00000582337.1_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													74	305					0	0	1	0	0	A	72343146	G	A	72343146	2	1	22	1	0	0	0	0	0	0	0	1	17944	1045	37	1		1	ZNF407	18	72343146	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155881	72343146	5734102	17571	19717											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													140	525					0	0	1	0	0	C	72353033	T	C	72353033	3	2	22	1	0	0	0	0	1	0	0	0	17944	1696	59	3	4763	3	ZNF407	18	72353033	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9887	72353033	5724215	17572	19718											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	964					0	0	1	0	0	T	72775187	C	T	72775187	3	4	22	1	0	0	0	0	1	0	0	0	17944	768	27	1	5670	1	ZNF407	18	72775187	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	422154	72775187	5302061	17573	19719											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	210					0	0	1	0	0	T	72775296	C	T	72775296	2	4	22	1	0	0	0	0	0	0	0	1	17944	535	19	1		1	ZNF407	18	72775296	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109	72775296	5301952	17574	19720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	117					0	0	1	0	0	T	72775354	C	T	72775354	2	4	22	1	0	0	0	0	0	0	0	1	17944	796	28	2		2	ZNF407	18	72775354	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58	72775354	5301894	17575	19721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	1316					0	0	1	0	0	A	72913911	G	A	72913911	2	1	22	1	0	0	0	0	0	0	0	1	17571	1195	42	2		2	ZADH2	18	72913911	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138557	72913911	5163337	17576	19722											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	109					0	0	1	0	0	T	72997452	C	T	72997452	2	4	22	1	0	0	0	0	0	0	0	1	16684	551	19	1		1	TSHZ1	18	72997452	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83541	72997452	5079796	17577	19723											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	298					0	0	1	0	0	T	72998525	C	T	72998525	3	4	22	1	0	0	0	0	1	0	0	0	16684	652	23	1	1030	1	TSHZ1	18	72998525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1073	72998525	5078723	17578	19724											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	265					0	0	1	0	0	A	72998659	G	A	72998659	3	1	22	1	0	0	0	0	1	0	0	0	16684	1087	38	1	1164	1	TSHZ1	18	72998659	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134	72998659	5078589	17579	19725											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	338					2.73361e-28	3.17826e-28	1	1	0	T	72999114	G	T	72999114	3	4	22	1	0	0	0	0	1	0	0	0	16684	962	34	2	1619	2	TSHZ1	18	72999114	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	455	72999114	5078134	17580	19726											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	269					0	0	1	0	0	T	72999452	C	T	72999452	3	4	22	1	0	0	0	0	1	0	0	0	16684	739	26	2	1957	2	TSHZ1	18	72999452	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	338	72999452	5077796	17581	19727											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	337					0	0	1	0	0	G	72999799	A	G	72999799	3	3	22	1	0	0	0	0	1	0	0	0	16684	43	2	3	2304	3	TSHZ1	18	72999799	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	347	72999799	5077449	17582	19728											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	328					6.3091e-27	7.28755e-27	1	1	0	T	74090972	G	T	74090972	3	4	22	1	0	0	0	0	1	0	0	0	18017	971	34	2	410	2	ZNF516	18	74090972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1091173	74090972	3986276	17583	19729											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	300					0	0	1	0	0	T	74091237	C	T	74091237	3	4	22	1	0	0	0	0	1	0	0	0	18017	739	26	2	675	2	ZNF516	18	74091237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	265	74091237	3986011	17584	19730											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	179					0	0	1	0	0	T	74091857	C	T	74091857	3	4	22	1	0	0	0	0	1	0	0	0	18017	681	24	2	1295	2	ZNF516	18	74091857	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	620	74091857	3985391	17585	19731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	64					0	0	1	0	0	T	74153437	C	T	74153437	3	4	22	1	0	0	0	0	1	0	0	0	18017	768	27	1	1938	1	ZNF516	18	74153437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61580	74153437	3923811	17586	19732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	258					0	0	1	0	0	T	74154150	C	T	74154150	2	4	22	1	0	0	0	0	0	0	0	1	18017	796	28	2		2	ZNF516	18	74154150	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	713	74154150	3923098	17587	19733											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	154					0	0	1	0	0	T	74154335	C	T	74154335	3	4	22	1	0	0	0	0	1	0	0	0	18017	768	27	1	2836	1	ZNF516	18	74154335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	185	74154335	3922913	17588	19734											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	113					0	0	1	0	0	T	74154528	C	T	74154528	2	4	22	1	0	0	0	0	0	0	0	1	18017	680	24	2		2	ZNF516	18	74154528	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193	74154528	3922720	17589	19735											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	164					0	0	1	0	0	A	74561610	G	A	74561610	3	1	22	1	0	0	0	0	1	0	0	0	17847	1059	37	1	184	1	ZNF236	18	74561610	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	407082	74561610	3515638	17590	19736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	547					0	0	1	0	0	C	74620380	A	C	74620380	3	2	22	1	0	0	0	0	1	0	0	0	17847	304	11	3	2450	3	ZNF236	18	74620380	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	58770	74620380	3456868	17591	19737											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	122					0	0	1	0	0	T	74649280	C	T	74649280	3	4	22	1	0	0	0	0	1	0	0	0	17847	478	17	2	4859	2	ZNF236	18	74649280	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28900	74649280	3427968	17592	19738											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528160.1_Intron|MBP_ENST00000382582.3_Missense_Mutation_p.T122A|MBP_ENST00000397866.4_Missense_Mutation_p.T96A|MBP_ENST00000579129.1_Missense_Mutation_p.T229A|MBP_ENST00000580402.1_Missense_Mutation_p.T229A|MBP_ENST00000397875.3_Missense_Mutation_p.T106A|MBP_ENST00000359645.3_Missense_Mutation_p.T122A|MBP_ENST00000354542.4_Intron|MBP_ENST00000527041.1_Intron|MBP_ENST00000397869.3_Missense_Mutation_p.T96A|MBP_ENST00000578193.1_Missense_Mutation_p.T96A|MBP_ENST00000526111.1_Missense_Mutation_p.T74A|MBP_ENST00000397865.5_Missense_Mutation_p.T96A	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													128	666					0	0	1	0	0	C	74700865	T	C	74700865	3	2	22	1	0	0	0	0	1	0	0	0	9409	1667	58	3	245	3	MBP	18	74700865	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	51585	74700865	3376383	17593	19739											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	249					2.23044e-30	2.6157e-30	1	1	0	A	74962940	C	A	74962940	3	1	22	1	0	0	0	0	1	0	0	0	6267	681	24	2	438	2	GALR1	18	74962940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262075	74962940	3114308	17594	19740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													169	670					0	0	1	0	0	T	76757124	C	T	76757124	2	4	22	1	0	0	0	0	0	0	0	1	13864	535	19	1		1	SALL3	18	76757124	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1794184	76757124	1320124	17595	19741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	434					5.42381e-49	6.70277e-49	1	1	0	T	77037156	G	T	77037156	3	4	22	1	0	0	0	0	1	0	0	0	1197	991	35	2	1421	2	ATP9B	18	77037156	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	280032	77037156	1040092	17596	19742											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	269					0	0	1	0	0	T	77090061	C	T	77090061	3	4	22	1	0	0	0	0	1	0	0	0	1197	739	26	2	2051	2	ATP9B	18	77090061	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52905	77090061	987187	17597	19743											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	368					0	0	1	0	0	T	77133958	C	T	77133958	3	4	22	1	0	0	0	0	1	0	0	0	1197	739	26	2	3241	2	ATP9B	18	77133958	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43897	77133958	943290	17598	19744											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427363.2_Missense_Mutation_p.A174V|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.A161V|NFATC1_ENST00000587635.1_Missense_Mutation_p.A174V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A161V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A174V|NFATC1_ENST00000586434.1_Missense_Mutation_p.A161V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A161V|NFATC1_ENST00000545796.1_Intron	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													85	350					0	0	1	0	0	T	77170796	C	T	77170796	3	4	22	1	0	0	0	0	1	0	0	0	10408	739	26	2	619	2	NFATC1	18	77170796	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36838	77170796	906452	17599	19745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427363.2_Silent_p.P344P|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000318065.5_Silent_p.P331P|NFATC1_ENST00000587635.1_Silent_p.P344P|NFATC1_ENST00000329101.4_Silent_p.P331P|NFATC1_ENST00000591814.1_Silent_p.P344P|NFATC1_ENST00000586434.1_Silent_p.P331P|NFATC1_ENST00000592223.1_Silent_p.P331P|NFATC1_ENST00000545796.1_Intron	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													54	280					1.32667e-27	1.53764e-27	1	1	0	A	77171307	C	A	77171307	2	1	22	1	0	0	0	0	0	0	0	1	10408	668	24	2		2	NFATC1	18	77171307	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	511	77171307	905941	17600	19746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427363.2_Missense_Mutation_p.A388V|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.A375V|NFATC1_ENST00000587635.1_Missense_Mutation_p.A388V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A375V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A388V|NFATC1_ENST00000586434.1_Missense_Mutation_p.A375V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A375V|NFATC1_ENST00000545796.1_Intron	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													34	120					0	0	1	0	0	T	77171438	C	T	77171438	3	4	22	1	0	0	0	0	1	0	0	0	10408	768	27	1	1261	1	NFATC1	18	77171438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131	77171438	905810	17601	19747											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427363.2_Missense_Mutation_p.A453V|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000318065.5_Missense_Mutation_p.A440V|NFATC1_ENST00000587635.1_Missense_Mutation_p.A453V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A440V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A453V|NFATC1_ENST00000586434.1_Missense_Mutation_p.A440V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A440V|NFATC1_ENST00000545796.1_5'UTR	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													149	466					0	0	1	0	0	T	77193710	C	T	77193710	3	4	22	1	0	0	0	0	1	0	0	0	10408	768	27	1	1460	1	NFATC1	18	77193710	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22272	77193710	883538	17602	19748											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000253506.5_Intron|NFATC1_ENST00000427363.2_Silent_p.S841S|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000545796.1_Silent_p.S369S	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													32	148					0	0	1	0	0	A	77246678	G	A	77246678	2	1	22	1	0	0	0	0	0	0	0	1	10408	1074	38	1		1	NFATC1	18	77246678	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52968	77246678	830570	17603	19749											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000253506.5_3'UTR|NFATC1_ENST00000427363.2_Nonsense_Mutation_p.R933*|NFATC1_ENST00000590172.1_3'UTR|NFATC1_ENST00000397790.2_3'UTR|NFATC1_ENST00000318065.5_3'UTR|NFATC1_ENST00000586434.1_Nonsense_Mutation_p.R690*|NFATC1_ENST00000545796.1_Nonsense_Mutation_p.R461*	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													30	315					0	0	1	0	0	T	77287542	C	T	77287542	4	4	22	1	0	0	0	0	0	1	0	0	10408	528	19	1	2986	1	NFATC1	18	77287542	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40864	77287542	789706	17604	19750											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	193					0	0	1	0	0	T	77513682	C	T	77513682	2	4	22	1	0	0	0	0	0	0	0	1	4026	535	19	1		1	CTDP1	18	77513682	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	226140	77513682	563566	17605	19751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	111					0	0	1	0	0	T	77659147	C	T	77659147	2	4	22	1	0	0	0	0	0	0	0	1	8072	776	27	1		1	KCNG2	18	77659147	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145465	77659147	418101	17606	19752											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	122					0	0	1	0	0	T	77659170	A	T	77659170	3	4	22	1	0	0	0	0	1	0	0	0	8072	43	2	5	761	5	KCNG2	18	77659170	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23	77659170	418078	17607	19753											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	196					0	0	1	0	0	T	77659486	C	T	77659486	2	4	22	1	0	0	0	0	0	0	0	1	8072	639	23	1		1	KCNG2	18	77659486	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	316	77659486	417762	17608	19754											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	105					0	0	1	0	0	A	77659752	G	A	77659752	3	1	22	1	0	0	0	0	1	0	0	0	8072	1203	42	2	1343	2	KCNG2	18	77659752	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	266	77659752	417496	17609	19755											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409073.1_Missense_Mutation_p.R112H|PQLC1_ENST00000357575.4_Missense_Mutation_p.R177H	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													42	192					0	0	1	0	0	T	77679208	C	T	77679208	3	4	22	1	0	0	0	0	1	0	0	0	12467	768	27	1	239	1	PQLC1	18	77679208	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19456	77679208	398040	17610	19756											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	253					3.21987e-24	3.67739e-24	1	1	0	T	77896474	G	T	77896474	3	4	22	1	0	0	0	0	1	0	0	0	323	942	33	2	3188	2	ADNP2	18	77896474	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217266	77896474	180774	17611	19757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	128					3.99451e-17	4.40333e-17	1	1	0	T	77896614	G	T	77896614	3	4	22	1	0	0	0	0	1	0	0	0	323	962	34	2	3328	2	ADNP2	18	77896614	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140	77896614	180634	17612	19758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	355					0	0	1	0	0	T	308850	C	T	308850	3	4	22	1	0	0	0	0	1	0	0	0	9629	768	27	1	593	1	MIER2	19	308850	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08		308850	58820133	17613	19759											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													229	882					0	0	1	0	0	T	371285	C	T	371285	3	4	22	1	0	0	0	0	1	0	0	0	15917	864	30	2	478	2	THEG	19	371285	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62435	371285	58757698	17614	19760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	230					0	0	1	0	0	T	372691	C	T	372691	3	4	22	1	0	0	0	0	1	0	0	0	15917	768	27	1	580	1	THEG	19	372691	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1406	372691	58756292	17615	19761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	239					0	0	1	0	0	C	436418	T	C	436418	3	2	22	1	0	0	0	0	1	0	0	0	14326	1638	57	3	988	3	SHC2	19	436418	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63727	436418	58692565	17616	19762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	474					0	0	1	0	0	T	440898	C	T	440898	3	4	22	1	0	0	0	0	1	0	0	0	14326	768	27	1	1289	1	SHC2	19	440898	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4480	440898	58688085	17617	19763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													422	1736					0	0	1	0	0	A	535886	G	A	535886	3	1	22	1	0	0	0	0	1	0	0	0	3089	1116	39	1	233	1	CDC34	19	535886	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94988	535886	58593097	17618	19764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	303					0	0	1	0	0	T	541501	C	T	541501	2	4	22	1	0	0	0	0	0	0	0	1	3089	639	23	1		1	CDC34	19	541501	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5615	541501	58587482	17619	19765											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000574970.1_3'UTR|BSG_ENST00000545507.2_Intron|BSG_ENST00000346916.4_Intron|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													27	101					0	0	1	0	0	T	578071	C	T	578071	3	4	22	1	0	0	0	0	1	0	0	0	1531	768	27	1	407	1	BSG	19	578071	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36570	578071	58550912	17620	19766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545507.2_Silent_p.D150D|BSG_ENST00000346916.4_Silent_p.D179D|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													89	313					0	0	1	0	0	T	582313	C	T	582313	2	4	22	1	0	0	0	0	0	0	0	1	1531	535	19	1		1	BSG	19	582313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4242	582313	58546670	17621	19767											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	348					0	0	1	0	0	T	603718	C	T	603718	2	4	22	1	0	0	0	0	0	0	0	1	7038	874	31	1		1	HCN2	19	603718	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21405	603718	58525265	17622	19768											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	315					0	0	1	0	0	A	623477	G	A	623477	3	1	22	1	0	0	0	0	1	0	0	0	12286	1203	42	2	2489	2	POLRMT	19	623477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19759	623477	58505506	17623	19769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	94					0	0	1	0	0	T	629762	C	T	629762	2	4	22	1	0	0	0	0	0	0	0	1	12286	842	30	2		2	POLRMT	19	629762	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6285	629762	58499221	17624	19770											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	315					0	0	1	0	0	T	629970	C	T	629970	3	4	22	1	0	0	0	0	1	0	0	0	12286	652	23	1	3376	1	POLRMT	19	629970	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208	629970	58499013	17625	19771											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	205					0	0	1	0	0	A	651781	G	A	651781	2	1	22	1	0	0	0	0	0	0	0	1	13487	1049	37	1		1	RNF126	19	651781	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21811	651781	58477202	17626	19772											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	24					9.05144e-12	9.67624e-12	1	1	0	A	652265	C	A	652265	3	1	22	1	0	0	0	0	1	0	0	0	13487	797	28	2	797	2	RNF126	19	652265	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	484	652265	58476718	17627	19773											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								96	399					0	0	1	0	0	T	677877	C	T	677877	2	4	22	1	0	0	0	0	0	0	0	1	6113	668	24	2		2	FSTL3	19	677877	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25612	677877	58451106	17628	19774											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								22	101					0	0	1	0	0	T	681539	C	T	681539	3	4	22	1	0	0	0	0	1	0	0	0	6113	768	27	1	726	1	FSTL3	19	681539	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3662	681539	58447444	17629	19775											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000606643.1_3'UTR|PALM_ENST00000338448.5_Missense_Mutation_p.T314I	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													36	194					0	0	1	0	0	T	746591	C	T	746591	3	4	22	1	0	0	0	0	1	0	0	0	11455	507	18	2	975	2	PALM	19	746591	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65052	746591	58382392	17630	19776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000606643.1_3'UTR|PALM_ENST00000338448.5_Missense_Mutation_p.P340H	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													28	106					3.73148e-12	3.99992e-12	1	1	0	A	746669	C	A	746669	3	1	22	1	0	0	0	0	1	0	0	0	11455	681	24	2	1053	2	PALM	19	746669	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78	746669	58382314	17631	19777											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394601.4_Missense_Mutation_p.A331V|PTBP1_ENST00000349038.4_Missense_Mutation_p.A312V|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													6	158					0	0	1	0	0	T	806450	C	T	806450	3	4	22	1	0	0	0	0	1	0	0	0	12774	739	26	2	1051	2	PTBP1	19	806450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59781	806450	58322533	17632	19778											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394601.4_Missense_Mutation_p.Q371H|PTBP1_ENST00000349038.4_Missense_Mutation_p.Q352H|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													135	725					0	0	1	0	0	C	807883	A	C	807883	3	2	22	1	0	0	0	0	1	0	0	0	12774	11	1	3	1176	3	PTBP1	19	807883	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1433	807883	58321100	17633	19779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													149	472					0	0	1	0	0	A	828350	G	A	828350	3	1	22	1	0	0	0	0	1	0	0	0	1241	1087	38	1	185	1	AZU1	19	828350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20467	828350	58300633	17634	19780											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	177					1.07121e-22	1.21384e-22	1	1	0	A	964313	C	A	964313	3	1	22	1	0	0	0	0	1	0	0	0	913	796	28	2	846	2	ARID3A	19	964313	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135963	964313	58164670	17635	19781											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	280					0	0	1	0	0	T	971939	C	T	971939	2	4	22	1	0	0	0	0	0	0	0	1	913	755	27	1		1	ARID3A	19	971939	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7626	971939	58157044	17636	19782											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	300					0.00307968	0.00310409	1	1	0	A	990913	C	A	990913	3	1	22	1	0	0	0	0	1	0	0	0	17338	710	25	2	677	2	WDR18	19	990913	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18974	990913	58138070	17637	19783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	236					7.22619e-39	8.72213e-39	1	1	0	A	1005022	C	A	1005022	3	1	22	1	0	0	0	0	1	0	0	0	6825	680	24	2	1532	2	GRIN3B	19	1005022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14109	1005022	58123961	17638	19784											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	310					0	0	1	0	0	A	1005113	G	A	1005113	3	1	22	1	0	0	0	0	1	0	0	0	6825	1087	38	1	1623	1	GRIN3B	19	1005113	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91	1005113	58123870	17639	19785											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000562958.2_Missense_Mutation_p.G99D|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_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													51	236					0	0	1	0	0	A	1032601	G	A	1032601	3	1	22	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	17640	19786											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	581					0	0	1	0	0	T	1041388	C	T	1041388	2	4	22	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	17641	19787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	97					0	0	1	0	0	A	1042089	G	A	1042089	3	1	22	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	17642	19788											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	237					0	0	1	0	0	A	1043053	G	A	1043053	3	1	22	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	17643	19789											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	648					0	0	1	0	0	A	1043394	G	A	1043394	4	1	22	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	17644	19790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	823					0	0	1	0	0	T	1043455	C	T	1043455	3	4	22	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	17645	19791											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	326					0	0	1	0	0	A	1045210	G	A	1045210	2	1	22	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	17646	19792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533574.1_3'UTR|ABCA7_ENST00000433129.1_Missense_Mutation_p.G487D|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													49	1139					0	0	1	0	0	A	1046243	G	A	1046243	3	1	22	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	17647	19793											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533574.1_3'UTR|ABCA7_ENST00000433129.1_Silent_p.D540D|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													127	1415					0	0	1	0	0	T	1046403	C	T	1046403	2	4	22	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	17648	19794											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000586866.1_Missense_Mutation_p.R68W|HMHA1_ENST00000536472.1_Intron|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													9	85					0	0	1	0	0	T	1068512	C	T	1068512	3	4	22	1	0	0	0	0	1	0	0	0	7281	759	27	1	196	1	HMHA1	19	1068512	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22109	1068512	58060471	17649	19795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543365.1_Missense_Mutation_p.L90P|HMHA1_ENST00000586866.1_Missense_Mutation_p.L211P|HMHA1_ENST00000536472.1_Missense_Mutation_p.L47P|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													5	185					0	0	1	0	0	C	1073559	T	C	1073559	3	2	22	1	0	0	0	0	1	0	0	0	7281	1580	55	3	634	3	HMHA1	19	1073559	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5047	1073559	58055424	17650	19796											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543365.1_Missense_Mutation_p.P132L|HMHA1_ENST00000586866.1_Missense_Mutation_p.P253L|HMHA1_ENST00000536472.1_Missense_Mutation_p.P89L|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													3	58					0	0	1	0	0	T	1073969	C	T	1073969	3	4	22	1	0	0	0	0	1	0	0	0	7281	652	23	1	768	1	HMHA1	19	1073969	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	410	1073969	58055014	17651	19797											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543365.1_Silent_p.L170L|HMHA1_ENST00000586866.1_Silent_p.L291L|HMHA1_ENST00000536472.1_Silent_p.L127L|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													63	311					0	0	1	0	0	T	1074171	C	T	1074171	2	4	22	1	0	0	0	0	0	0	0	1	7281	796	28	2		2	HMHA1	19	1074171	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202	1074171	58054812	17652	19798											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543365.1_Silent_p.K524K|HMHA1_ENST00000586866.1_Silent_p.K645K|HMHA1_ENST00000536472.1_Silent_p.K509K|HMHA1_ENST00000590577.1_Silent_p.K276K|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													18	250					0	0	1	0	0	A	1080691	G	A	1080691	2	1	22	1	0	0	0	0	0	0	0	1	7281	933	33	2		2	HMHA1	19	1080691	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6520	1080691	58048292	17653	19799											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543365.1_Missense_Mutation_p.G643S|HMHA1_ENST00000586866.1_Missense_Mutation_p.G764S|HMHA1_ENST00000536472.1_Missense_Mutation_p.G628S|HMHA1_ENST00000590577.1_Missense_Mutation_p.G395S|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													8	41					0	0	1	0	0	A	1081636	G	A	1081636	3	1	22	1	0	0	0	0	1	0	0	0	7281	1116	39	1	2348	1	HMHA1	19	1081636	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	945	1081636	58047347	17654	19800											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585838.1_5'UTR|POLR2E_ENST00000586746.1_Silent_p.I173I			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													35	173					0	0	1	0	0	A	1089931	G	A	1089931	2	1	22	1	0	0	0	0	0	0	0	1	12266	1164	41	2		2	POLR2E	19	1089931	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8295	1089931	58039052	17655	19801											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	182					0	0	1	0	0	A	1093977	G	A	1093977	3	1	22	1	0	0	0	0	1	0	0	0	12266	1116	39	1	498	1	POLR2E	19	1093977	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4046	1093977	58035006	17656	19802											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	50					0	0	1	0	0	T	1109544	C	T	1109544	2	4	22	1	0	0	0	0	0	0	0	1	13916	755	27	1		1	SBNO2	19	1109544	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15567	1109544	58019439	17657	19803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	188					3.32936e-07	3.45006e-07	1	1	0	T	1109688	G	T	1109688	3	4	22	1	0	0	0	0	1	0	0	0	13916	933	33	2	1007	2	SBNO2	19	1109688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144	1109688	58019295	17658	19804											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	77					0	0	1	0	0	A	1112468	G	A	1112468	2	1	22	1	0	0	0	0	0	0	0	1	13916	1252	44	2		2	SBNO2	19	1112468	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2780	1112468	58016515	17659	19805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	79					0	0	1	0	0	T	1112481	C	T	1112481	3	4	22	1	0	0	0	0	1	0	0	0	13916	768	27	1	1713	1	SBNO2	19	1112481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13	1112481	58016502	17660	19806											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	82					2.31682e-05	2.36778e-05	1	1	0	A	1112516	C	A	1112516	3	1	22	1	0	0	0	0	1	0	0	0	13916	680	24	2	1748	2	SBNO2	19	1112516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	1112516	58016467	17661	19807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	63					2.21704e-12	2.37967e-12	1	1	0	T	1119096	G	T	1119096	3	4	22	1	0	0	0	0	1	0	0	0	13916	971	34	2	2735	2	SBNO2	19	1119096	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6580	1119096	58009887	17662	19808											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			16	72					0	0	1	0	0	C	1206967	T	C	1206967	3	2	22	1	0	0	0	0	1	0	0	0	15343	1667	58	3	57	3	STK11	19	1206967	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	87871	1206967	57922016	17663	19809											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000215376.6_Missense_Mutation_p.A131V|C19orf26_ENST00000382477.2_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)			18	148					0	0	1	0	0	A	1235045	G	A	1235045	3	1	22	1	0	0	0	0	1	0	0	0	1928	1087	38	1	971	1	C19orf26	19	1235045	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28078	1235045	57893938	17664	19810											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539480.1_Missense_Mutation_p.D139N|NDUFS7_ENST00000233627.9_Missense_Mutation_p.D139N|NDUFS7_ENST00000414651.2_Missense_Mutation_p.D169N|NDUFS7_ENST00000540530.1_3'UTR			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													32	93					0	0	1	0	0	A	1391124	G	A	1391124	3	1	22	1	0	0	0	0	1	0	0	0	10344	1058	37	1	437	1	NDUFS7	19	1391124	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156079	1391124	57737859	17665	19811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Missense_Mutation_p.A383T|APC2_ENST00000233607.2_Missense_Mutation_p.A657T			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													22	120					0	0	1	0	0	A	1465269	G	A	1465269	3	1	22	1	0	0	0	0	1	0	0	0	760	1087	38	1	2023	1	APC2	19	1465269	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74145	1465269	57663714	17666	19812											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Silent_p.A786A|APC2_ENST00000233607.2_Silent_p.A1060A			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													20	101					0	0	1	0	0	A	1466480	G	A	1466480	2	1	22	1	0	0	0	0	0	0	0	1	760	1074	38	1		1	APC2	19	1466480	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1211	1466480	57662503	17667	19813											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Silent_p.P925P|APC2_ENST00000233607.2_Silent_p.P1199P			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													11	48					0	0	1	0	0	T	1466897	C	T	1466897	2	4	22	1	0	0	0	0	0	0	0	1	760	639	23	1		1	APC2	19	1466897	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	417	1466897	57662086	17668	19814											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Silent_p.T1250T|APC2_ENST00000233607.2_Silent_p.T1524T			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													20	81					0	0	1	0	0	A	1467872	G	A	1467872	2	1	22	1	0	0	0	0	0	0	0	1	760	1074	38	1		1	APC2	19	1467872	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	975	1467872	57661111	17669	19815											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Missense_Mutation_p.R1255H|APC2_ENST00000233607.2_Missense_Mutation_p.R1529H			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													13	88					0	0	1	0	0	A	1467886	G	A	1467886	3	1	22	1	0	0	0	0	1	0	0	0	760	1087	38	1	4640	1	APC2	19	1467886	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14	1467886	57661097	17670	19816											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	261					0	0	1	0	0	A	1483417	G	A	1483417	2	1	22	1	0	0	0	0	0	0	0	1	11649	1079	38	1		1	PCSK4	19	1483417	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15531	1483417	57645566	17671	19817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	364					4.02937e-33	4.77023e-33	1	1	0	A	1486949	C	A	1486949	3	1	22	1	0	0	0	0	1	0	0	0	11649	797	28	2	1328	2	PCSK4	19	1486949	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3532	1486949	57642034	17672	19818											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	141					1.69901e-12	1.82497e-12	1	1	0	A	1487861	C	A	1487861	5	1	22	1	0	0	0	0	0	0	1	0	11649	695	24	2	1795	2	PCSK4	19	1487861	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	912	1487861	57641122	17673	19819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													155	669					4.44197e-71	5.64539e-71	1	1	0	A	1488000	C	A	1488000	3	1	22	1	0	0	0	0	1	0	0	0	11649	739	26	2	1836	2	PCSK4	19	1488000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139	1488000	57640983	17674	19820											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|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													53	252					0	0	1	0	0	A	1578415	G	A	1578415	3	1	22	1	0	0	0	0	1	0	0	0	9394	971	34	2	79	2	MBD3	19	1578415	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90415	1578415	57550568	17675	19821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453954.2_Intron|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000395423.3_Missense_Mutation_p.E587D	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								23	572					5.26018e-13	5.6673e-13	1	1	0	A	1615357	C	A	1615357	3	1	22	1	0	0	0	0	1	0	0	0	15754	912	32	2	454	2	TCF3	19	1615357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36942	1615357	57513626	17676	19822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000262965.5_Intron|TCF3_ENST00000453954.2_Intron|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_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								54	261					0	0	1	0	0	T	1615576	C	T	1615576	2	4	22	1	0	0	0	0	0	0	0	1	15754	783	27	1		1	TCF3	19	1615576	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219	1615576	57513407	17677	19823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453954.2_Missense_Mutation_p.A78T|TCF3_ENST00000588136.1_Missense_Mutation_p.A162T|TCF3_ENST00000344749.5_Missense_Mutation_p.A162T|TCF3_ENST00000395423.3_Missense_Mutation_p.A111T	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								19	65					0	0	1	0	0	T	1625590	C	T	1625590	3	4	22	1	0	0	0	0	1	0	0	0	15754	739	26	2	1763	2	TCF3	19	1625590	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10014	1625590	57503393	17678	19824											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525591.1_Missense_Mutation_p.A1104T|ATP8B3_ENST00000310127.6_Missense_Mutation_p.A1141T			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													4	91					0	0	1	0	0	T	1785269	C	T	1785269	3	4	22	1	0	0	0	0	1	0	0	0	1194	768	27	1	493	1	ATP8B3	19	1785269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159679	1785269	57343714	17679	19825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525591.1_Missense_Mutation_p.A500T|ATP8B3_ENST00000310127.6_Missense_Mutation_p.A547T			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													37	156					0	0	1	0	0	T	1796824	C	T	1796824	3	4	22	1	0	0	0	0	1	0	0	0	1194	710	25	2	2349	2	ATP8B3	19	1796824	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11555	1796824	57332159	17680	19826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525591.1_Silent_p.A198A|ATP8B3_ENST00000526092.1_Silent_p.A198A|ATP8B3_ENST00000310127.6_Silent_p.A251A			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													29	194					0	0	1	0	0	A	1805955	G	A	1805955	2	1	22	1	0	0	0	0	0	0	0	1	1194	1103	39	1		1	ATP8B3	19	1805955	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9131	1805955	57323028	17681	19827											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	178					0	0	1	0	0	T	1819095	C	T	1819095	3	4	22	1	0	0	0	0	1	0	0	0	13293	507	18	2	1015	2	REXO1	19	1819095	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13140	1819095	57309888	17682	19828											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	242					2.27111e-07	2.35674e-07	1	1	0	T	1820033	G	T	1820033	2	4	22	1	0	0	0	0	0	0	0	1	13293	987	35	2		2	REXO1	19	1820033	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	938	1820033	57308950	17683	19829											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	271					0	0	1	0	0	G	1986857	A	G	1986857	3	3	22	1	0	0	0	0	1	0	0	0	1546	275	10	3	197	3	BTBD2	19	1986857	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	166824	1986857	57142126	17684	19830											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	213					0	0	1	0	0	T	1990071	C	T	1990071	3	4	22	1	0	0	0	0	1	0	0	0	1546	652	23	1	677	1	BTBD2	19	1990071	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3214	1990071	57138912	17685	19831											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													197	902					0	0	1	0	0	A	2043157	G	A	2043157	2	1	22	1	0	0	0	0	0	0	0	1	9653	1252	44	2		2	MKNK2	19	2043157	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53086	2043157	57085826	17686	19832											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000350812.6_Missense_Mutation_p.R482W|AP3D1_ENST00000356926.4_Missense_Mutation_p.R560W|AP3D1_ENST00000345016.5_Missense_Mutation_p.R651W	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													19	66					0	0	1	0	0	A	2116654	G	A	2116654	3	1	22	1	0	0	0	0	1	0	0	0	742	1086	38	1	1724	1	AP3D1	19	2116654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73497	2116654	57012329	17687	19833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000350812.6_Missense_Mutation_p.A269T|AP3D1_ENST00000356926.4_Missense_Mutation_p.A347T|AP3D1_ENST00000345016.5_Missense_Mutation_p.A438T	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													53	265					0	0	1	0	0	T	2121030	C	T	2121030	3	4	22	1	0	0	0	0	1	0	0	0	742	768	27	1	2375	1	AP3D1	19	2121030	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4376	2121030	57007953	17688	19834											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000350812.6_Missense_Mutation_p.H172R|AP3D1_ENST00000356926.4_Missense_Mutation_p.H250R|AP3D1_ENST00000345016.5_Missense_Mutation_p.H341R|AP3D1_ENST00000590683.1_5'UTR	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													147	682					0	0	1	0	0	C	2121812	T	C	2121812	3	2	22	1	0	0	0	0	1	0	0	0	742	1696	59	3	2673	3	AP3D1	19	2121812	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	782	2121812	57007171	17689	19835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	200					0	0	1	0	0	T	2220181	C	T	2220181	2	4	22	1	0	0	0	0	0	0	0	1	4736	610	22	2		2	DOT1L	19	2220181	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98369	2220181	56908802	17690	19836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	191					0	0	1	0	0	T	2226809	C	T	2226809	3	4	22	1	0	0	0	0	1	0	0	0	4736	768	27	1	4395	1	DOT1L	19	2226809	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6628	2226809	56902174	17691	19837											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	125					0	0	1	0	0	A	2226885	G	A	2226885	2	1	22	1	0	0	0	0	0	0	0	1	4736	1132	40	1		1	DOT1L	19	2226885	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76	2226885	56902098	17692	19838											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2247848C>A	ENST00000221494.4	+	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	233	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													37	338					1.30998e-17	1.44773e-17	1	1	0	A	2247848	C	A	2247848	3	1	22	1	0	0	0	0	1	0	0	0	14201	681	24	2	728	2	SF3A2	19	2247848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20963	2247848	56881135	17693	19839											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2249555C>T	ENST00000221496.3	+	1	890	c.224C>T	c.(223-225)gCt>gTt	p.A75V		NM_000479.3	NP_000470.2	P03971	MIS_HUMAN	anti-Mullerian hormone	75					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)				13	51					0	0	1	0	0	T	2249555	C	T	2249555	3	4	22	1	0	0	0	0	1	0	0	0	568	797	28	2	226	2	AMH	19	2249555	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1707	2249555	56879428	17694	19840											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2255205C>A	ENST00000300961.5	-	2	173	c.109_splice	c.e2+1	p.A37_splice	JSRP1_ENST00000586471.1_Splice_Site_p.A37_splice	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	37	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													25	128					9.86323e-18	1.09066e-17	1	1	0	A	2255205	C	A	2255205	5	1	22	1	0	0	0	0	0	0	1	0	8010	695	24	2	910	2	JSRP1	19	2255205	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5650	2255205	56873778	17695	19841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	81					0	0	1	0	0	T	2276371	C	T	2276371	3	4	22	1	0	0	0	0	1	0	0	0	1932	652	23	1	695	1	C19orf35	19	2276371	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21166	2276371	56852612	17696	19842											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	112					0	0	1	0	0	T	2280862	C	T	2280862	2	4	22	1	0	0	0	0	0	0	0	1	1932	523	19	1		1	C19orf35	19	2280862	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4491	2280862	56848121	17697	19843											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	123					0	0	1	0	0	G	2290688	A	G	2290688	3	3	22	1	0	0	0	0	1	0	0	0	8857	333	12	3	694	3	LINGO3	19	2290688	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9826	2290688	56838295	17698	19844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2334702G>A	ENST00000452401.2	+	0	248				AC005258.3_ENST00000590001.1_RNA			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													25	90					0	0	1	0	0	A	2334702	G	A	2334702	1	1	22	0	1	0	0	0	0	0	0	0	15145	1074	38	1		1	SPPL2B	19	2334702	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44014	2334702	56794281	17699	19845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	315					0	0	1	0	0	A	2389901	G	A	2389901	3	1	22	1	0	0	0	0	1	0	0	0	16313	1145	40	1	120	1	TMPRSS9	19	2389901	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55199	2389901	56739082	17700	19846											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	97					0	0	1	0	0	T	2399065	C	T	2399065	4	4	22	1	0	0	0	0	0	1	0	0	16313	760	27	1	296	1	TMPRSS9	19	2399065	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9164	2399065	56729918	17701	19847											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	337					0	0	1	0	0	T	2405479	C	T	2405479	3	4	22	1	0	0	0	0	1	0	0	0	16313	710	25	2	698	2	TMPRSS9	19	2405479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6414	2405479	56723504	17702	19848											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	291					0	0	1	0	0	A	2435154	G	A	2435154	3	1	22	1	0	0	0	0	1	0	0	0	8891	1086	38	1	1194	1	LMNB2	19	2435154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29675	2435154	56693829	17703	19849											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	456					0	0	1	0	0	T	2515062	C	T	2515062	2	4	22	1	0	0	0	0	0	0	0	1	6573	639	23	1		1	GNG7	19	2515062	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79908	2515062	56613921	17704	19850											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	881					0	0	1	0	0	A	2717235	G	A	2717235	2	1	22	1	0	0	0	0	0	0	0	1	4558	1074	38	1		1	DIRAS1	19	2717235	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	202173	2717235	56411748	17705	19851											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	223					0	0	1	0	0	T	2717474	C	T	2717474	3	4	22	1	0	0	0	0	1	0	0	0	4558	536	19	1	269	1	DIRAS1	19	2717474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239	2717474	56411509	17706	19852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	189					0	0	1	0	0	A	2717568	G	A	2717568	2	1	22	1	0	0	0	0	0	0	0	1	4558	1190	42	2		2	DIRAS1	19	2717568	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94	2717568	56411415	17707	19853											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	188					0	0	1	0	0	T	2717589	C	T	2717589	2	4	22	1	0	0	0	0	0	0	0	1	4558	796	28	2		2	DIRAS1	19	2717589	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21	2717589	56411394	17708	19854											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	327					0	0	1	0	0	A	2717685	G	A	2717685	2	1	22	1	0	0	0	0	0	0	0	1	4558	1048	37	1		1	DIRAS1	19	2717685	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96	2717685	56411298	17709	19855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	366					0	0	1	0	0	T	2769007	C	T	2769007	2	4	22	1	0	0	0	0	0	0	0	1	14279	726	26	2		2	SGTA	19	2769007	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51322	2769007	56359976	17710	19856											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	234					0	0	1	0	0	A	2790603	G	A	2790603	2	1	22	1	0	0	0	0	0	0	0	1	15931	1074	38	1		1	THOP1	19	2790603	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21596	2790603	56338380	17711	19857											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	375					0	0	1	0	0	A	2794884	G	A	2794884	3	1	22	1	0	0	0	0	1	0	0	0	15931	1145	40	1	362	1	THOP1	19	2794884	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4281	2794884	56334099	17712	19858											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	219					0	0	1	0	0	T	2834613	C	T	2834613	2	4	22	1	0	0	0	0	0	0	0	1	18042	755	27	1		1	ZNF554	19	2834613	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39729	2834613	56294370	17713	19859											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	423					0	0	1	0	0	A	2853592	G	A	2853592	3	1	22	1	0	0	0	0	1	0	0	0	18043	1319	46	2	1543	2	ZNF555	19	2853592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18979	2853592	56275391	17714	19860											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													202	932					0	0	1	0	0	T	2876127	C	T	2876127	3	4	22	1	0	0	0	0	1	0	0	0	18044	913	32	2	177	2	ZNF556	19	2876127	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22535	2876127	56252856	17715	19861											
ZNF77	58492	broad.mit.edu	37	chr19	2934085	2934085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcatagggtttctctccaCtgtgcgttctcccatgttct	7	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2934085C>T	ENST00000314531.4	-	4	1132	c.1040G>A	c.(1039-1041)aGt>aAt	p.S347N		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTCTCTCCACTGTGCGTTCT	0.512													72	287					0	0	1	0	0	T	2934085	C	T	2934085	3	4	22	1	0	0	0	0	1	0	0	0	18192	565	20	2	601	2	ZNF77	19	2934085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57958	2934085	56194898	17716	19862											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	112					0	0	1	0	0	A	2987962	G	A	2987962	3	1	22	1	0	0	0	0	1	0	0	0	16002	1261	44	2	726	2	TLE6	19	2987962	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53877	2987962	56141021	17717	19863											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	185					2.61193e-14	2.83483e-14	1	1	0	A	2993462	C	A	2993462	3	1	22	1	0	0	0	0	1	0	0	0	16002	564	20	2	1473	2	TLE6	19	2993462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5500	2993462	56135521	17718	19864											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590536.1_Missense_Mutation_p.A443T|TLE2_ENST00000591529.1_Missense_Mutation_p.A456T|TLE2_ENST00000447365.2_Missense_Mutation_p.A109T|TLE2_ENST00000443826.3_Missense_Mutation_p.A320T|TLE2_ENST00000426948.2_Missense_Mutation_p.A456T|TLE2_ENST00000455444.2_Missense_Mutation_p.A320T|TLE2_ENST00000586422.1_Intron	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													16	69					0	0	1	0	0	T	3006594	C	T	3006594	3	4	22	1	0	0	0	0	1	0	0	0	15999	768	27	1	931	1	TLE2	19	3006594	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13132	3006594	56122389	17719	19865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590536.1_Nonsense_Mutation_p.R402*|TLE2_ENST00000591529.1_Nonsense_Mutation_p.R415*|TLE2_ENST00000447365.2_Nonsense_Mutation_p.R68*|TLE2_ENST00000443826.3_Nonsense_Mutation_p.R279*|TLE2_ENST00000426948.2_Nonsense_Mutation_p.R415*|TLE2_ENST00000455444.2_Nonsense_Mutation_p.R279*|TLE2_ENST00000586422.1_Intron	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													5	31					0	0	1	0	0	A	3008916	G	A	3008916	4	1	22	1	0	0	0	0	0	1	0	0	15999	1124	39	1	1058	1	TLE2	19	3008916	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2322	3008916	56120067	17720	19866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590536.1_Silent_p.S304S|TLE2_ENST00000591529.1_Silent_p.S317S|TLE2_ENST00000443826.3_Silent_p.S181S|TLE2_ENST00000426948.2_Silent_p.S317S|TLE2_ENST00000455444.2_Silent_p.S181S|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000262953.6_Silent_p.S303S			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													24	106					5.35047e-06	5.50008e-06	1	1	0	T	3011123	G	T	3011123	3	4	22	1	0	0	0	0	1	0	0	0	15999	987	35	2	1358	2	TLE2	19	3011123	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2207	3011123	56117860	17721	19867											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								77	327					0	0	1	0	0	C	3119349	A	C	3119349	3	2	22	1	0	0	0	0	1	0	0	0	6541	304	11	3	903	3	GNA11	19	3119349	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	108226	3119349	56009634	17722	19868											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	GNA11_ENST00000586180.1_3'UTR|AC005262.2_ENST00000585980.1_RNA	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								42	187					0	0	1	0	0	A	3121121	G	A	3121121	3	1	22	1	0	0	0	0	1	0	0	0	6541	1087	38	1	1050	1	GNA11	19	3121121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1772	3121121	56007862	17723	19869											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	569					1.18489e-69	1.50393e-69	1	1	0	T	3151773	G	T	3151773	3	4	22	1	0	0	0	0	1	0	0	0	6545	971	34	2	568	2	GNA15	19	3151773	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30652	3151773	55977210	17724	19870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	6	242					0	0	1	0	0	A	3162989	G	A	3162989	3	1	22	1	0	0	0	0	1	0	0	0	6545	1087	38	1	1123	1	GNA15	19	3162989	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11216	3162989	55965994	17725	19871											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	31					0	0	1	0	0	T	3178948	C	T	3178948	3	4	22	1	0	0	0	0	1	0	0	0	13848	893	31	1	160	1	S1PR4	19	3178948	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15959	3178948	55950035	17726	19872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	709					0	0	1	0	0	T	3179636	C	T	3179636	2	4	22	1	0	0	0	0	0	0	0	1	13848	610	22	2		2	S1PR4	19	3179636	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	688	3179636	55949347	17727	19873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	140					0	0	1	0	0	A	3192496	G	A	3192496	2	1	22	1	0	0	0	0	0	0	0	1	10274	991	35	2		2	NCLN	19	3192496	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12860	3192496	55936487	17728	19874											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	665					6.44725e-10	6.81304e-10	1	1	0	A	3281290	C	A	3281290	3	1	22	1	0	0	0	0	1	0	0	0	3241	680	24	2	719	2	CELF5	19	3281290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88794	3281290	55847693	17729	19875											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590282.1_Missense_Mutation_p.R81C|NFIC_ENST00000586919.1_Missense_Mutation_p.R72C|NFIC_ENST00000443272.2_Missense_Mutation_p.R81C|NFIC_ENST00000341919.3_Missense_Mutation_p.R81C|NFIC_ENST00000346156.5_Missense_Mutation_p.R72C|NFIC_ENST00000395111.3_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													170	667					0	0	1	0	0	T	3381920	C	T	3381920	3	4	22	1	0	0	0	0	1	0	0	0	10419	768	27	1	254	1	NFIC	19	3381920	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100630	3381920	55747063	17730	19876											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590282.1_Missense_Mutation_p.A364T|NFIC_ENST00000586919.1_Missense_Mutation_p.A331T|NFIC_ENST00000443272.2_Missense_Mutation_p.A364T|NFIC_ENST00000341919.3_Missense_Mutation_p.A364T|NFIC_ENST00000346156.5_Missense_Mutation_p.A331T|NFIC_ENST00000395111.3_Missense_Mutation_p.A355T	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													308	1403					0	0	1	0	0	A	3452485	G	A	3452485	3	1	22	1	0	0	0	0	1	0	0	0	10419	1087	38	1	1127	1	NFIC	19	3452485	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70565	3452485	55676498	17731	19877											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	75					3.83957e-06	3.94984e-06	1	1	0	A	3576607	C	A	3576607	3	1	22	1	0	0	0	0	1	0	0	0	7263	912	32	2	598	2	HMG20B	19	3576607	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124122	3576607	55552376	17732	19878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	34	133					0	0	1	0	0	T	3586949	C	T	3586949	2	4	22	1	0	0	0	0	0	0	0	1	6436	610	22	2		2	GIPC3	19	3586949	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10342	3586949	55542034	17733	19879											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	34					0	0	1	0	0	T	3595695	C	T	3595695	3	4	22	1	0	0	0	0	1	0	0	0	15723	726	26	2	257	2	TBXA2R	19	3595695	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8746	3595695	55533288	17734	19880											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000411851.3_Missense_Mutation_p.A50V|TBXA2R_ENST00000589966.1_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													29	198					0	0	1	0	0	A	3600484	G	A	3600484	3	1	22	1	0	0	0	0	1	0	0	0	15723	1087	38	1	1135	1	TBXA2R	19	3600484	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4789	3600484	55528499	17735	19881											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	369					0	0	1	0	0	G	3644083	A	G	3644083	5	3	22	1	0	0	0	0	0	0	1	0	11989	173	6	3	522	3	PIP5K1C	19	3644083	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	43599	3644083	55484900	17736	19882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000262968.9_Missense_Mutation_p.R181H|TJP3_ENST00000587686.1_Missense_Mutation_p.R181H|TJP3_ENST00000539908.2_Missense_Mutation_p.R126H|TJP3_ENST00000589378.1_Missense_Mutation_p.R171H|TJP3_ENST00000382008.3_Missense_Mutation_p.R162H	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													53	213					0	0	1	0	0	A	3730576	G	A	3730576	3	1	22	1	0	0	0	0	1	0	0	0	15991	1145	40	1	556	1	TJP3	19	3730576	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86493	3730576	55398407	17737	19883											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000262968.9_Missense_Mutation_p.S364N|TJP3_ENST00000587686.1_Missense_Mutation_p.S350N|TJP3_ENST00000539908.2_Missense_Mutation_p.S295N|TJP3_ENST00000589378.1_Missense_Mutation_p.S340N|TJP3_ENST00000382008.3_Missense_Mutation_p.S345N	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													22	784					0	0	1	0	0	A	3735569	G	A	3735569	3	1	22	1	0	0	0	0	1	0	0	0	15991	1029	36	2	1121	2	TJP3	19	3735569	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4993	3735569	55393414	17738	19884											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000262968.9_Missense_Mutation_p.D674G|TJP3_ENST00000587686.1_Missense_Mutation_p.D660G|TJP3_ENST00000539908.2_Missense_Mutation_p.D605G|TJP3_ENST00000589378.1_Missense_Mutation_p.D650G|TJP3_ENST00000382008.3_Missense_Mutation_p.D655G	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													9	367					0	0	1	0	0	G	3744015	A	G	3744015	3	3	22	1	0	0	0	0	1	0	0	0	15991	275	10	3	2075	3	TJP3	19	3744015	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8446	3744015	55384968	17739	19885											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000262968.9_Silent_p.G846G|TJP3_ENST00000587686.1_Silent_p.G832G|TJP3_ENST00000539908.2_Silent_p.G777G|TJP3_ENST00000589378.1_Silent_p.G822G|TJP3_ENST00000382008.3_Silent_p.G827G	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													39	200					0	0	1	0	0	T	3747908	C	T	3747908	2	4	22	1	0	0	0	0	0	0	0	1	15991	755	27	1		1	TJP3	19	3747908	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3893	3747908	55381075	17740	19886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	36					0	0	1	0	0	T	3753771	C	T	3753771	3	4	22	1	0	0	0	0	1	0	0	0	754	768	27	1	748	1	APBA3	19	3753771	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5863	3753771	55375212	17741	19887											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	371					0	0	1	0	0	A	3762792	G	A	3762792	3	1	22	1	0	0	0	0	1	0	0	0	9867	1203	42	2	96	2	MRPL54	19	3762792	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9021	3762792	55366191	17742	19888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585778.1_Missense_Mutation_p.V184A|MATK_ENST00000395045.2_Missense_Mutation_p.V185A|MATK_ENST00000395040.2_Missense_Mutation_p.V143A	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													21	203					0	0	1	0	0	G	3783843	A	G	3783843	3	3	22	1	0	0	0	0	1	0	0	0	9382	159	6	3	1008	3	MATK	19	3783843	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21051	3783843	55345140	17743	19889											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585778.1_Silent_p.R88R|MATK_ENST00000395045.2_Silent_p.R89R|MATK_ENST00000395040.2_Silent_p.R47R	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													82	343					0	0	1	0	0	A	3784220	G	A	3784220	2	1	22	1	0	0	0	0	0	0	0	1	9382	1074	38	1		1	MATK	19	3784220	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	377	3784220	55344763	17744	19890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	150					0	0	1	0	0	A	3813948	G	A	3813948	2	1	22	1	0	0	0	0	0	0	0	1	17718	1103	39	1		1	ZFR2	19	3813948	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29728	3813948	55315035	17745	19891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398448.3_Silent_p.N242N|ATCAY_ENST00000301260.6_Silent_p.N236N|ATCAY_ENST00000600960.1_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													33	137					0	0	1	0	0	T	3909544	C	T	3909544	2	4	22	1	0	0	0	0	0	0	0	1	1076	535	19	1		1	ATCAY	19	3909544	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95596	3909544	55219439	17746	19892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398448.3_Silent_p.F282F|ATCAY_ENST00000301260.6_Silent_p.F276F|ATCAY_ENST00000600960.1_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													78	328					0	0	1	0	0	T	3910849	C	T	3910849	2	4	22	1	0	0	0	0	0	0	0	1	1076	825	29	2		2	ATCAY	19	3910849	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1305	3910849	55218134	17747	19893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398448.3_Missense_Mutation_p.A336V|ATCAY_ENST00000301260.6_Missense_Mutation_p.A330V|ATCAY_ENST00000600960.1_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													51	295					0	0	1	0	0	T	3917763	C	T	3917763	3	4	22	1	0	0	0	0	1	0	0	0	1076	739	26	2	1023	2	ATCAY	19	3917763	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6914	3917763	55211220	17748	19894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	64					0	0	1	0	0	T	3977529	C	T	3977529	3	4	22	1	0	0	0	0	1	0	0	0	4955	768	27	1	441	1	EEF2	19	3977529	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59766	3977529	55151454	17749	19895											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													147	664					0	0	1	0	0	C	3981965	T	C	3981965	3	2	22	1	0	0	0	0	1	0	0	0	4955	1435	50	3	1739	3	EEF2	19	3981965	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4436	3981965	55147018	17750	19896											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	266					0	0	1	0	0	T	4028840	C	T	4028840	2	4	22	1	0	0	0	0	0	0	0	1	11926	547	19	1		1	PIAS4	19	4028840	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46875	4028840	55100143	17751	19897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	55					0	0	1	0	0	C	4033503	T	C	4033503	3	2	22	1	0	0	0	0	1	0	0	0	11926	1464	51	3	1101	3	PIAS4	19	4033503	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4663	4033503	55095480	17752	19898											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	73					0	0	1	0	0	A	4037768	G	A	4037768	2	1	22	1	0	0	0	0	0	0	0	1	11926	1103	39	1		1	PIAS4	19	4037768	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4265	4037768	55091215	17753	19899											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	51					0	0	1	0	0	T	4099233	C	T	4099233	2	4	22	1	0	0	0	0	0	0	0	1	9287	755	27	1		1	MAP2K2	19	4099233	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61465	4099233	55029750	17754	19900											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000252587.3_5'UTR|CREB3L3_ENST00000602147.1_Missense_Mutation_p.A7V|CREB3L3_ENST00000602257.1_Missense_Mutation_p.A7V|CREB3L3_ENST00000595923.1_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													21	147					0	0	1	0	0	T	4153764	C	T	4153764	3	4	22	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	17755	19901											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	29					0	0	1	0	0	T	4199913	C	T	4199913	2	4	22	1	0	0	0	0	0	0	0	1	649	639	23	1		1	ANKRD24	19	4199913	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46149	4199913	54929070	17756	19902											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4202024T>C	ENST00000600132.1	+	6	621	c.343_splice	c.e6-1	p.G115_splice	ANKRD24_ENST00000318934.4_Splice_Site_p.G115_splice|ANKRD24_ENST00000262970.5_Splice_Site_p.G205_splice	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													47	391					0	0	1	0	0	C	4202024	T	C	4202024	5	2	22	1	0	0	0	0	0	0	1	0	649	1739	60	3	363	3	ANKRD24	19	4202024	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2111	4202024	54926959	17757	19903											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	51					2.27111e-07	2.35674e-07	1	1	0	T	4216663	G	T	4216663	3	4	22	1	0	0	0	0	1	0	0	0	649	962	34	2	1572	2	ANKRD24	19	4216663	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14639	4216663	54912320	17758	19904											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	232					1.64293e-13	1.77503e-13	1	1	0	T	4283065	G	T	4283065	3	4	22	1	0	0	0	0	1	0	0	0	14330	1000	35	2	428	2	SHD	19	4283065	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66402	4283065	54845918	17759	19905											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600114.1_Missense_Mutation_p.Y102C|TMIGD2_ENST00000595645.1_Missense_Mutation_p.Y218C	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													9	417					0	0	1	0	0	C	4292780	T	C	4292780	3	2	22	1	0	0	0	0	1	0	0	0	16291	1406	49	3	187	3	TMIGD2	19	4292780	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9715	4292780	54836203	17760	19906											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	744					0	0	1	0	0	T	4325511	C	T	4325511	2	4	22	1	0	0	0	0	0	0	0	1	15309	755	27	1		1	STAP2	19	4325511	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32731	4325511	54803472	17761	19907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000598564.1_Silent_p.F10F|SH3GL1_ENST00000417295.2_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								19	180					0	0	1	0	0	A	4400336	G	A	4400336	2	1	22	1	0	0	0	0	0	0	0	1	14305	933	33	2		2	SH3GL1	19	4400336	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74825	4400336	54728647	17762	19908											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_005474.2	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					51	265					0	0	1	0	0	T	4409479	C	T	4409479	3	4	22	1	0	0	0	0	1	0	0	0	3333	797	28	2	693	2	CHAF1A	19	4409479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9143	4409479	54719504	17763	19909											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_005474.2	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					59	323					0	0	1	0	0	A	4429469	G	A	4429469	3	1	22	1	0	0	0	0	1	0	0	0	3333	1116	39	1	1673	1	CHAF1A	19	4429469	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19990	4429469	54699514	17764	19910											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_005474.2	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					102	380					0	0	1	0	0	T	4432089	C	T	4432089	2	4	22	1	0	0	0	0	0	0	0	1	3333	776	27	1		1	CHAF1A	19	4432089	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2620	4432089	54696894	17765	19911											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_005474.2	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					29	289					0	0	1	0	0	A	4432123	G	A	4432123	3	1	22	1	0	0	0	0	1	0	0	0	3333	1087	38	1	2168	1	CHAF1A	19	4432123	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	4432123	54696860	17766	19912											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_005474.2	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					109	401					0	0	1	0	0	T	4433183	C	T	4433183	3	4	22	1	0	0	0	0	1	0	0	0	3333	759	27	1	2370	1	CHAF1A	19	4433183	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1060	4433183	54695800	17767	19913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	UBXN6_ENST00000394765.3_5'UTR|CTB-50L17.9_ENST00000592034.1_RNA	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													31	1000					4.59853e-10	4.86106e-10	1	1	0	A	4454072	C	A	4454072	3	1	22	1	0	0	0	0	1	0	0	0	16977	912	32	2	1263	2	UBXN6	19	4454072	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20889	4454072	54674911	17768	19914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	126					0	0	1	0	0	C	4457633	T	C	4457633	3	2	22	1	0	0	0	0	1	0	0	0	16977	1580	55	3	1307	3	UBXN6	19	4457633	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3561	4457633	54671350	17769	19915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	92					1.96292e-10	2.08093e-10	1	1	0	A	4510584	C	A	4510584	3	1	22	1	0	0	0	0	1	0	0	0	12140	681	24	2	743	2	PLIN4	19	4510584	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52951	4510584	54618399	17770	19916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	191					0.00010058	0.000102273	1	1	0	A	4510724	C	A	4510724	3	1	22	1	0	0	0	0	1	0	0	0	12140	797	28	2	883	2	PLIN4	19	4510724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140	4510724	54618259	17771	19917											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	336					8.87156e-34	1.0529e-33	1	1	0	A	4523771	C	A	4523771	3	1	22	1	0	0	0	0	1	0	0	0	12141	796	28	2	234	2	PLIN5	19	4523771	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13047	4523771	54605212	17772	19918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	316					0	0	1	0	0	A	4525690	G	A	4525690	2	1	22	1	0	0	0	0	0	0	0	1	12141	1252	44	2		2	PLIN5	19	4525690	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1919	4525690	54603293	17773	19919											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	291					0	0	1	0	0	A	4538016	G	A	4538016	3	1	22	1	0	0	0	0	1	0	0	0	8987	1145	40	1	67	1	LRG1	19	4538016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12326	4538016	54590967	17774	19920											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	9	32					0	0	1	0	0	T	4558383	C	T	4558383	2	4	22	1	0	0	0	0	0	0	0	1	14094	680	24	2		2	SEMA6B	19	4558383	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20367	4558383	54570600	17775	19921											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	64					1.5739e-10	1.67034e-10	1	1	0	A	4690947	C	A	4690947	3	1	22	1	0	0	0	0	1	0	0	0	4759	680	24	2	1175	2	DPP9	19	4690947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132564	4690947	54438036	17776	19922											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	417					0	0	1	0	0	G	4793050	A	G	4793050	3	3	22	1	0	0	0	0	1	0	0	0	5842	391	14	3	1186	3	FEM1A	19	4793050	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	102103	4793050	54335933	17777	19923											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	202					0	0	1	0	0	A	4793649	G	A	4793649	3	1	22	1	0	0	0	0	1	0	0	0	5842	1203	42	2	1785	2	FEM1A	19	4793649	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	599	4793649	54335334	17778	19924											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	221					2.19358e-23	2.49351e-23	1	1	0	A	4817507	C	A	4817507	4	1	22	1	0	0	0	0	0	1	0	0	15952	922	32	2	1259	2	TICAM1	19	4817507	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23858	4817507	54311476	17779	19925											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585479.1_Missense_Mutation_p.P312L|PLIN3_ENST00000592528.1_Missense_Mutation_p.P300L	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													11	65					0	0	1	0	0	A	4844705	G	A	4844705	3	1	22	1	0	0	0	0	1	0	0	0	12139	1232	43	2	377	2	PLIN3	19	4844705	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27198	4844705	54284278	17780	19926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585479.1_Silent_p.S273S|PLIN3_ENST00000592528.1_Silent_p.S261S	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													13	57					0	0	1	0	0	T	4847718	C	T	4847718	2	4	22	1	0	0	0	0	0	0	0	1	12139	755	27	1		1	PLIN3	19	4847718	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3013	4847718	54281265	17781	19927											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585479.1_Missense_Mutation_p.A215T|PLIN3_ENST00000592528.1_Missense_Mutation_p.A203T	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													21	107					0	0	1	0	0	T	4847894	C	T	4847894	3	4	22	1	0	0	0	0	1	0	0	0	12139	768	27	1	673	1	PLIN3	19	4847894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176	4847894	54281089	17782	19928											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585479.1_Missense_Mutation_p.S167F|PLIN3_ENST00000592528.1_Missense_Mutation_p.S155F	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)	20	176					0	0	1	0	0	A	4852162	G	A	4852162	3	1	22	1	0	0	0	0	1	0	0	0	12139	1174	41	2	820	2	PLIN3	19	4852162	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4268	4852162	54276821	17783	19929											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585479.1_Missense_Mutation_p.A96T|PLIN3_ENST00000592528.1_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													43	252					0	0	1	0	0	T	4859664	C	T	4859664	3	4	22	1	0	0	0	0	1	0	0	0	12139	768	27	1	1038	1	PLIN3	19	4859664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7502	4859664	54269319	17784	19930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	431					0	0	1	0	0	A	4896825	G	A	4896825	3	1	22	1	0	0	0	0	1	0	0	0	985	1000	35	2	677	2	ARRDC5	19	4896825	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37161	4896825	54232158	17785	19931											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	362					0	0	1	0	0	G	4896836	A	G	4896836	2	3	22	1	0	0	0	0	0	0	0	1	985	291	11	3		3	ARRDC5	19	4896836	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11	4896836	54232147	17786	19932											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	158					0	0	1	0	0	A	4950688	G	A	4950688	1	1	22	0	1	0	0	0	0	0	0	0	17027	1116	39	1		1	UHRF1	19	4950688	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53852	4950688	54178295	17787	19933											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381759.4_Missense_Mutation_p.H202Y|KDM4B_ENST00000536461.1_Missense_Mutation_p.H202Y|KDM4B_ENST00000592175.1_3'UTR	NM_015015.2	NP_055830.1	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													95	472					0	0	1	0	0	T	5047658	C	T	5047658	3	4	22	1	0	0	0	0	1	0	0	0	8173	710	25	2	618	2	KDM4B	19	5047658	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96970	5047658	54081325	17788	19934											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381759.4_Missense_Mutation_p.D236N|KDM4B_ENST00000536461.1_Missense_Mutation_p.D236N|KDM4B_ENST00000592175.1_3'UTR	NM_015015.2	NP_055830.1	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													221	1154					0	0	1	0	0	A	5077407	G	A	5077407	3	1	22	1	0	0	0	0	1	0	0	0	8173	1058	37	1	728	1	KDM4B	19	5077407	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29749	5077407	54051576	17789	19935											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.F1821S|PTPRS_ENST00000262963.6_Missense_Mutation_p.F1839S|PTPRS_ENST00000348075.2_Missense_Mutation_p.F1821S|PTPRS_ENST00000592099.1_Missense_Mutation_p.F1412S|PTPRS_ENST00000587303.1_Missense_Mutation_p.F1859S|PTPRS_ENST00000353284.2_Missense_Mutation_p.F1412S|PTPRS_ENST00000357368.4_Missense_Mutation_p.F1859S			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													40	225					0	0	1	0	0	G	5208314	A	G	5208314	3	3	22	1	0	0	0	0	1	0	0	0	12863	246	9	3	282	3	PTPRS	19	5208314	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	130907	5208314	53920669	17790	19936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.E1605K|PTPRS_ENST00000262963.6_Missense_Mutation_p.E1623K|PTPRS_ENST00000348075.2_Missense_Mutation_p.E1605K|PTPRS_ENST00000592099.1_Missense_Mutation_p.E1196K|PTPRS_ENST00000587303.1_Missense_Mutation_p.E1643K|PTPRS_ENST00000353284.2_Missense_Mutation_p.E1196K|PTPRS_ENST00000357368.4_Missense_Mutation_p.E1643K			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													73	291					0	0	1	0	0	T	5212104	C	T	5212104	3	4	22	1	0	0	0	0	1	0	0	0	12863	893	31	1	947	1	PTPRS	19	5212104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3790	5212104	53916879	17791	19937											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588552.1_Intron|PTPRS_ENST00000588012.1_Missense_Mutation_p.A972V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A990V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A972V|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000587303.1_Missense_Mutation_p.A994V|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000357368.4_Missense_Mutation_p.A994V			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													45	198					0	0	1	0	0	A	5222822	G	A	5222822	3	1	22	1	0	0	0	0	1	0	0	0	12863	1087	38	1	2949	1	PTPRS	19	5222822	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10718	5222822	53906161	17792	19938											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.A391V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A400V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A391V|PTPRS_ENST00000592099.1_Missense_Mutation_p.A391V|PTPRS_ENST00000587303.1_Missense_Mutation_p.A404V|PTPRS_ENST00000353284.2_Missense_Mutation_p.A391V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A404V			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													37	300					0	0	1	0	0	A	5244271	G	A	5244271	3	1	22	1	0	0	0	0	1	0	0	0	12863	1203	42	2	4747	2	PTPRS	19	5244271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21449	5244271	53884712	17793	19939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.D340N|PTPRS_ENST00000262963.6_Missense_Mutation_p.D349N|PTPRS_ENST00000348075.2_Missense_Mutation_p.D340N|PTPRS_ENST00000592099.1_Missense_Mutation_p.D340N|PTPRS_ENST00000587303.1_Missense_Mutation_p.D353N|PTPRS_ENST00000353284.2_Missense_Mutation_p.D340N|PTPRS_ENST00000357368.4_Missense_Mutation_p.D353N			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													64	271					0	0	1	0	0	T	5244425	C	T	5244425	3	4	22	1	0	0	0	0	1	0	0	0	12863	855	30	2	4901	2	PTPRS	19	5244425	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154	5244425	53884558	17794	19940											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	356					0	0	1	0	0	T	5455699	C	T	5455699	3	4	22	1	0	0	0	0	1	0	0	0	18256	768	27	1	199	1	ZNRF4	19	5455699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211274	5455699	53673284	17795	19941											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	631					0	0	1	0	0	A	5456539	G	A	5456539	3	1	22	1	0	0	0	0	1	0	0	0	18256	1087	38	1	1039	1	ZNRF4	19	5456539	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	840	5456539	53672444	17796	19942											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	229					0	0	1	0	0	A	5592849	G	A	5592849	4	1	22	1	0	0	0	0	0	1	0	0	13859	1124	39	1	628	1	SAFB2	19	5592849	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136310	5592849	53536134	17797	19943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433404.1_5'UTR|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000454510.1_Intron|SAFB_ENST00000588852.1_Missense_Mutation_p.A153D	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													91	402					9.07295e-45	1.11094e-44	1	1	0	A	5641869	C	A	5641869	3	1	22	1	0	0	0	0	1	0	0	0	13858	797	28	2	472	2	SAFB	19	5641869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49020	5641869	53487114	17798	19944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	5	147					0	0	1	0	0	T	5691599	C	T	5691599	2	4	22	1	0	0	0	0	0	0	0	1	13638	639	23	1		1	RPL36	19	5691599	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49730	5691599	53437384	17799	19945											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540670.2_Missense_Mutation_p.A621S|LONP1_ENST00000585374.1_Missense_Mutation_p.A703S|LONP1_ENST00000590729.1_Missense_Mutation_p.A687S|LONP1_ENST00000593119.1_Missense_Mutation_p.A753S	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													97	321					2.31626e-56	2.89815e-56	1	1	0	A	5693652	C	A	5693652	3	1	22	1	0	0	0	0	1	0	0	0	8937	797	28	2	442	2	LONP1	19	5693652	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2053	5693652	53435331	17800	19946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5694911C>T	ENST00000360614.3	-	14	2172	c.2013_splice	c.e14-1	p.R672_splice	LONP1_ENST00000540670.2_Splice_Site_p.R476_splice|LONP1_ENST00000585374.1_Splice_Site_p.R558_splice|LONP1_ENST00000590729.1_Splice_Site_p.R542_splice|LONP1_ENST00000593119.1_Splice_Site_p.R608_splice	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													39	221					0	0	1	0	0	T	5694911	C	T	5694911	5	4	22	1	0	0	0	0	0	0	1	0	8937	782	27	1	884	1	LONP1	19	5694911	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1259	5694911	53434072	17801	19947											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540670.2_5'UTR|LONP1_ENST00000585374.1_Missense_Mutation_p.A46T|LONP1_ENST00000590729.1_Missense_Mutation_p.A46T|LONP1_ENST00000593119.1_Missense_Mutation_p.A96T	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													103	418					0	0	1	0	0	T	5714234	C	T	5714234	3	4	22	1	0	0	0	0	1	0	0	0	8937	768	27	1	2469	1	LONP1	19	5714234	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19323	5714234	53414749	17802	19948											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	394					0	0	1	0	0	A	5784052	G	A	5784052	3	1	22	1	0	0	0	0	1	0	0	0	12645	1203	42	2	1066	2	PRR22	19	5784052	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69818	5784052	53344931	17803	19949											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	50					0	0	1	0	0	T	5785800	C	T	5785800	3	4	22	1	0	0	0	0	1	0	0	0	4833	739	26	2	399	2	DUS3L	19	5785800	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1748	5785800	53343183	17804	19950											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	74					0	0	1	0	0	A	5786851	G	A	5786851	2	1	22	1	0	0	0	0	0	0	0	1	4833	1136	40	1		1	DUS3L	19	5786851	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1051	5786851	53342132	17805	19951											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	89					0	0	1	0	0	T	5789522	C	T	5789522	3	4	22	1	0	0	0	0	1	0	0	0	4833	768	27	1	1400	1	DUS3L	19	5789522	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2671	5789522	53339461	17806	19952											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	244					7.45023e-12	7.97024e-12	1	1	0	T	5790078	G	T	5790078	3	4	22	1	0	0	0	0	1	0	0	0	4833	962	34	2	1633	2	DUS3L	19	5790078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	556	5790078	53338905	17807	19953											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000286955.5_Missense_Mutation_p.R96H|FUT6_ENST00000527106.1_Missense_Mutation_p.R96H|FUT6_ENST00000524754.1_Missense_Mutation_p.R96H|FUT6_ENST00000592563.1_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													99	328					0	0	1	0	0	T	5832292	C	T	5832292	3	4	22	1	0	0	0	0	1	0	0	0	6143	768	27	1	796	1	FUT6	19	5832292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42214	5832292	53296691	17808	19954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	496					0	0	1	0	0	T	5867405	C	T	5867405	3	4	22	1	0	0	0	0	1	0	0	0	6142	565	20	2	796	2	FUT5	19	5867405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35113	5867405	53261578	17809	19955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|NDUFA11_ENST00000592634.1_Missense_Mutation_p.P46S|FUT5_ENST00000252675.5_5'UTR|NDUFA11_ENST00000308961.4_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													128	616					0	0	1	0	0	A	5896970	G	A	5896970	3	1	22	1	0	0	0	0	1	0	0	0	10308	1174	41	2	301	2	NDUFA11	19	5896970	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29565	5896970	53232013	17810	19956											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541471.1_Missense_Mutation_p.A131V|RANBP3_ENST00000591092.1_Missense_Mutation_p.A186V|RANBP3_ENST00000034275.8_Missense_Mutation_p.A191V	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													122	466					0	0	1	0	0	A	5928016	G	A	5928016	3	1	22	1	0	0	0	0	1	0	0	0	13081	1203	42	2	963	2	RANBP3	19	5928016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31046	5928016	53200967	17811	19957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	449					0	0	1	0	0	A	6042117	G	A	6042117	2	1	22	1	0	0	0	0	0	0	0	1	13315	1136	40	1		1	RFX2	19	6042117	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114101	6042117	53086866	17812	19958											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000586696.1_Missense_Mutation_p.V153A|ACSBG2_ENST00000252669.5_Missense_Mutation_p.V153A|ACSBG2_ENST00000591403.1_Missense_Mutation_p.V153A|ACSBG2_ENST00000588485.1_Intron			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													136	515					0	0	1	0	0	C	6156513	T	C	6156513	3	2	22	1	0	0	0	0	1	0	0	0	174	1696	59	3	472	3	ACSBG2	19	6156513	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	114396	6156513	52972470	17813	19959											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000586696.1_Missense_Mutation_p.G448E|ACSBG2_ENST00000252669.5_Missense_Mutation_p.G448E|ACSBG2_ENST00000591403.1_Missense_Mutation_p.G448E|ACSBG2_ENST00000588485.1_Missense_Mutation_p.G261E|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													219	1082					0	0	1	0	0	A	6185467	G	A	6185467	3	1	22	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	17814	19960											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								105	563					0	0	1	0	0	A	6213122	G	A	6213122	2	1	22	1	0	0	0	0	0	0	0	1	9673	1049	37	1		1	MLLT1	19	6213122	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27655	6213122	52915861	17815	19961											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								165	752					0	0	1	0	0	A	6213356	G	A	6213356	2	1	22	1	0	0	0	0	0	0	0	1	9673	962	34	2		2	MLLT1	19	6213356	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234	6213356	52915627	17816	19962											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								90	448					0	0	1	0	0	A	6213743	G	A	6213743	2	1	22	1	0	0	0	0	0	0	0	1	9673	1140	40	1		1	MLLT1	19	6213743	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	387	6213743	52915240	17817	19963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								42	142					0	0	1	0	0	A	6222534	G	A	6222534	2	1	22	1	0	0	0	0	0	0	0	1	9673	1190	42	2		2	MLLT1	19	6222534	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8791	6222534	52906449	17818	19964											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	45	233					0	0	1	0	0	A	6270647	G	A	6270647	3	1	22	1	0	0	0	0	1	0	0	0	9673	1319	46	2	1587	2	MLLT1	19	6270647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48113	6270647	52858336	17819	19965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	192					2.64894e-19	2.95328e-19	1	1	0	A	6309846	C	A	6309846	5	1	22	1	0	0	0	0	0	0	1	0	138	695	24	2	456	2	ACER1	19	6309846	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39199	6309846	52819137	17820	19966											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	1045					0	0	1	0	0	T	6389591	C	T	6389591	3	4	22	1	0	0	0	0	1	0	0	0	6899	893	31	1	1403	1	GTF2F1	19	6389591	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79745	6389591	52739392	17821	19967											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	369					0	0	1	0	0	A	6426528	G	A	6426528	3	1	22	1	0	0	0	0	1	0	0	0	14561	1086	38	1	131	1	SLC25A41	19	6426528	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36937	6426528	52702455	17822	19968											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	94					0	0	1	0	0	A	6427420	G	A	6427420	2	1	22	1	0	0	0	0	0	0	0	1	14561	1074	38	1		1	SLC25A41	19	6427420	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	892	6427420	52701563	17823	19969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	76					0	0	1	0	0	A	6467822	G	A	6467822	3	1	22	1	0	0	0	0	1	0	0	0	4456	1029	36	2	310	2	DENND1C	19	6467822	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40402	6467822	52661161	17824	19970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	447					0	0	1	0	0	T	6479048	C	T	6479048	3	4	22	1	0	0	0	0	1	0	0	0	4456	536	19	1	2285	1	DENND1C	19	6479048	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11226	6479048	52649935	17825	19971											
TNFSF9	8744	broad.mit.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-													ccttgggccctggtcgcgggGctgctgctgctgctgctgct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)ggg>gg	p.GL34del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	34					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						TGGTCGCGGGgctgctgctgctg	0.768													12	436	---	---	---	---						-	6531151	GCT	-	6531149	7	5	22	1	0	1	0	1	0	0	0	0	16372	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-IB-7651-01A-11D-2154-08	52101	6531149	52597834	17826	19972											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	84					0	0	1	0	0	A	6534897	G	A	6534897	2	1	22	1	0	0	0	0	0	0	0	1	16372	1103	39	1		1	TNFSF9	19	6534897	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3748	6534897	52594086	17827	19973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000599359.1_Missense_Mutation_p.V217I|TNFSF14_ENST00000245912.3_Missense_Mutation_p.V181I	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													100	504					0	0	1	0	0	T	6665011	C	T	6665011	3	4	22	1	0	0	0	0	1	0	0	0	16367	536	19	1	77	1	TNFSF14	19	6665011	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130114	6665011	52463972	17828	19974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	514					5.10254e-61	6.42204e-61	1	1	0	T	6684416	G	T	6684416	2	4	22	1	0	0	0	0	0	0	0	1	2218	1164	41	2		2	C3	19	6684416	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19405	6684416	52444567	17829	19975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	516					4.25972e-66	5.38874e-66	1	1	0	A	6684598	C	A	6684598	3	1	22	1	0	0	0	0	1	0	0	0	2218	507	18	2	938	2	C3	19	6684598	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182	6684598	52444385	17830	19976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													223	890					0	0	1	0	0	T	6686219	C	T	6686219	2	4	22	1	0	0	0	0	0	0	0	1	2218	796	28	2		2	C3	19	6686219	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1621	6686219	52442764	17831	19977											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	313					0	0	1	0	0	T	6694466	C	T	6694466	3	4	22	1	0	0	0	0	1	0	0	0	2218	623	22	2	1933	2	C3	19	6694466	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8247	6694466	52434517	17832	19978	131	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	328					3.13296e-38	3.77304e-38	1	1	0	A	6694476	C	A	6694476	3	1	22	1	0	0	0	0	1	0	0	0	2218	912	32	2	1943	2	C3	19	6694476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10	6694476	52434507	17833	19979	131	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													232	1146					0	0	1	0	0	C	6696635	A	C	6696635	2	2	22	1	0	0	0	0	0	0	0	1	2218	233	9	3		3	C3	19	6696635	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2159	6696635	52432348	17834	19980											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	857					0	0	1	0	0	A	6712565	G	A	6712565	3	1	22	1	0	0	0	0	1	0	0	0	2218	1261	44	2	4046	2	C3	19	6712565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15930	6712565	52416418	17835	19981											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	393					0	0	1	0	0	A	6732321	G	A	6732321	2	1	22	1	0	0	0	0	0	0	0	1	6664	991	35	2		2	GPR108	19	6732321	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19756	6732321	52396662	17836	19982											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	73					0.000442599	0.000448314	1	1	0	T	6733016	G	T	6733016	2	4	22	1	0	0	0	0	0	0	0	1	6664	932	33	2		2	GPR108	19	6733016	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	695	6733016	52395967	17837	19983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	425					7.59261e-44	9.28096e-44	1	1	0	T	6733205	G	T	6733205	3	4	22	1	0	0	0	0	1	0	0	0	6664	933	33	2	840	2	GPR108	19	6733205	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	189	6733205	52395778	17838	19984											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TRIP10_ENST00000313244.9_Missense_Mutation_p.K574N|TRIP10_ENST00000596758.1_Missense_Mutation_p.K528T|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313285.8_Missense_Mutation_p.K518N			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													107	511					0	0	1	0	0	C	6751138	A	C	6751138	3	2	22	1	0	0	0	0	1	0	0	0	16615	69	3	3	1608	3	TRIP10	19	6751138	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17933	6751138	52377845	17839	19985											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|TRIP10_ENST00000313244.9_3'UTR|CTD-3128G10.6_ENST00000594056.1_RNA|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													94	485					7.79919e-48	9.60998e-48	1	1	0	A	6751225	C	A	6751225	3	1	22	1	0	0	0	0	1	0	0	0	16615	638	22	2		2	TRIP10	19	6751225	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87	6751225	52377758	17840	19986											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	40					0	0	1	0	0	T	6754363	C	T	6754363	3	4	22	1	0	0	0	0	1	0	0	0	14287	768	27	1	575	1	SH2D3A	19	6754363	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3138	6754363	52374620	17841	19987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	66					0	0	1	0	0	T	6754423	C	T	6754423	3	4	22	1	0	0	0	0	1	0	0	0	14287	739	26	2	635	2	SH2D3A	19	6754423	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	6754423	52374560	17842	19988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR	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													28	111					4.59853e-10	4.86106e-10	1	1	0	A	6760689	C	A	6760689	3	1	22	1	0	0	0	0	1	0	0	0	14287	855	30	2	1383	2	SH2D3A	19	6760689	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6266	6760689	52368294	17843	19989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000596764.1_Missense_Mutation_p.C71Y|VAV1_ENST00000539284.1_Missense_Mutation_p.C6Y|VAV1_ENST00000602142.1_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													132	444					0	0	1	0	0	A	6820720	G	A	6820720	3	1	22	1	0	0	0	0	1	0	0	0	17191	1319	46	2	218	2	VAV1	19	6820720	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60031	6820720	52308263	17844	19990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000596764.1_Missense_Mutation_p.R300Q|VAV1_ENST00000539284.1_Missense_Mutation_p.R235Q|VAV1_ENST00000602142.1_Missense_Mutation_p.R332Q|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													39	219					0	0	1	0	0	A	6828154	G	A	6828154	3	1	22	1	0	0	0	0	1	0	0	0	17191	1058	37	1	1033	1	VAV1	19	6828154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7434	6828154	52300829	17845	19991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000596764.1_Missense_Mutation_p.R384W|VAV1_ENST00000539284.1_Missense_Mutation_p.R319W|VAV1_ENST00000602142.1_Missense_Mutation_p.R416W|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													38	217					0	0	1	0	0	T	6828892	C	T	6828892	3	4	22	1	0	0	0	0	1	0	0	0	17191	527	19	1	1296	1	VAV1	19	6828892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	738	6828892	52300091	17846	19992											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6836997G>A	ENST00000596764.1	+	20	1900	c.1818_splice	c.e20-1	p.G607_splice	VAV1_ENST00000539284.1_Splice_Site_p.G542_splice|VAV1_ENST00000602142.1_Splice_Site_p.G639_splice|VAV1_ENST00000599806.1_Splice_Site_p.G584_splice|VAV1_ENST00000304076.2_Intron	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													94	572					0	0	1	0	0	A	6836997	G	A	6836997	5	1	22	1	0	0	0	0	0	0	1	0	17191	1217	42	2	1998	2	VAV1	19	6836997	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8105	6836997	52291986	17847	19993											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000596764.1_Nonsense_Mutation_p.E645*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.E580*|VAV1_ENST00000602142.1_Nonsense_Mutation_p.E677*|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													55	526					4.1673e-28	4.84001e-28	1	1	0	T	6848025	G	T	6848025	4	4	22	1	0	0	0	0	0	1	0	0	17191	1175	41	2	2119	2	VAV1	19	6848025	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11028	6848025	52280958	17848	19994											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381404.4_Missense_Mutation_p.T86A|EMR1_ENST00000450315.3_Missense_Mutation_p.T138A|EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000250572.8_Missense_Mutation_p.T138A|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													6	270					0	0	1	0	0	G	6897456	A	G	6897456	3	3	22	1	0	0	0	0	1	0	0	0	5132	159	6	3	430	3	EMR1	19	6897456	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49431	6897456	52231527	17849	19995											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381404.4_Silent_p.K597K|EMR1_ENST00000450315.3_Silent_p.K472K|EMR1_ENST00000250572.8_Intron|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													66	267					0	0	1	0	0	A	6924844	G	A	6924844	2	1	22	1	0	0	0	0	0	0	0	1	5132	933	33	2		2	EMR1	19	6924844	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27388	6924844	52204139	17850	19996											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381404.4_Silent_p.C613C|EMR1_ENST00000450315.3_Silent_p.C488C|EMR1_ENST00000250572.8_Silent_p.C600C|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													6	250					0	0	1	0	0	T	6926385	C	T	6926385	2	4	22	1	0	0	0	0	0	0	0	1	5132	776	27	1		1	EMR1	19	6926385	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1541	6926385	52202598	17851	19997											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381404.4_Missense_Mutation_p.G667E|EMR1_ENST00000450315.3_Missense_Mutation_p.G542E|EMR1_ENST00000250572.8_Missense_Mutation_p.G654E|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													9	521					0	0	1	0	0	A	6926546	G	A	6926546	3	1	22	1	0	0	0	0	1	0	0	0	5132	1232	43	2	2218	2	EMR1	19	6926546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	6926546	52202437	17852	19998											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000439035.2_Silent_p.E89E|ZNF557_ENST00000252840.6_Silent_p.E96E	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													29	105					0	0	1	0	0	A	7081411	G	A	7081411	2	1	22	1	0	0	0	0	0	0	0	1	18045	962	34	2		2	ZNF557	19	7081411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154865	7081411	52047572	17853	19999											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000439035.2_Silent_p.F294F|ZNF557_ENST00000252840.6_Silent_p.F301F	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													130	588					0	0	1	0	0	T	7083365	C	T	7083365	2	4	22	1	0	0	0	0	0	0	0	1	18045	883	31	1		1	ZNF557	19	7083365	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1954	7083365	52045618	17854	20000											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000439035.2_Missense_Mutation_p.T334I|ZNF557_ENST00000252840.6_Missense_Mutation_p.T341I	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													68	342					0	0	1	0	0	T	7083484	C	T	7083484	3	4	22	1	0	0	0	0	1	0	0	0	18045	565	20	2	1044	2	ZNF557	19	7083484	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119	7083484	52045499	17855	20001											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	251					0	0	1	0	0	A	7117408	G	A	7117408	3	1	22	1	0	0	0	0	1	0	0	0	7817	1087	38	1	344	1	INSR	19	7117408	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33924	7117408	52011575	17856	20002											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	122					0	0	1	0	0	T	7142938	C	T	7142938	3	4	22	1	0	0	0	0	1	0	0	0	7817	652	23	1	1761	1	INSR	19	7142938	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25530	7142938	51986045	17857	20003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	438					0	0	1	0	0	T	7172365	C	T	7172365	3	4	22	1	0	0	0	0	1	0	0	0	7817	768	27	1	3016	1	INSR	19	7172365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29427	7172365	51956618	17858	20004											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7506797G>T	ENST00000359920.6	+	3	908		c.e3-1		CTD-2207O23.3_ENST00000593531.1_Splice_Site|ARHGEF18_ENST00000319670.9_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													57	1181					9.73076e-26	1.11809e-25	1	1	0	T	7506797	G	T	7506797	5	4	22	1	0	0	0	0	0	0	1	0	898	956	33	2	665	2	ARHGEF18	19	7506797	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	334432	7506797	51622186	17859	20005											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.A260T|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R144H	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													49	244					0	0	1	0	0	A	7509198	G	A	7509198	3	1	22	1	0	0	0	0	1	0	0	0	898	1087	38	1	919	1	ARHGEF18	19	7509198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2401	7509198	51619785	17860	20006											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-2207O23.3_ENST00000593531.1_Silent_p.T771T|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.L656I	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													96	425					5.01286e-43	6.11331e-43	1	1	0	A	7531999	C	A	7531999	3	1	22	1	0	0	0	0	1	0	0	0	898	681	24	2	2498	2	ARHGEF18	19	7531999	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22801	7531999	51596984	17861	20007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	145					0	0	1	0	0	A	7569075	G	A	7569075	3	1	22	1	0	0	0	0	1	0	0	0	1940	1203	42	2	652	2	C19orf45	19	7569075	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37076	7569075	51559908	17862	20008											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	743					0	0	1	0	0	A	7584405	G	A	7584405	3	1	22	1	0	0	0	0	1	0	0	0	17924	1058	37	1	279	1	ZNF358	19	7584405	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15330	7584405	51544578	17863	20009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	544					0	0	1	0	0	A	7591439	G	A	7591439	3	1	22	1	0	0	0	0	1	0	0	0	9445	1087	38	1	362	1	MCOLN1	19	7591439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7034	7591439	51537544	17864	20010											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													288	1287					0	0	1	0	0	T	7595239	C	T	7595239	3	4	22	1	0	0	0	0	1	0	0	0	9445	536	19	1	1473	1	MCOLN1	19	7595239	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3800	7595239	51533744	17865	20011											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	1660					0	0	1	0	0	C	7595335	T	C	7595335	3	2	22	1	0	0	0	0	1	0	0	0	9445	1464	51	3	1569	3	MCOLN1	19	7595335	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96	7595335	51533648	17866	20012	132	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													287	1318					0	0	1	0	0	A	7595344	G	A	7595344	3	1	22	1	0	0	0	0	1	0	0	0	9445	971	34	2	1578	2	MCOLN1	19	7595344	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9	7595344	51533639	17867	20013	132	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7606952A>G	ENST00000221249.6	+	13	1565	c.1135_splice	c.e13+1	p.S378_splice	PNPLA6_ENST00000545201.2_Splice_Site_p.S378_splice|PNPLA6_ENST00000600737.1_Splice_Site_p.S417_splice|PNPLA6_ENST00000450331.3_Splice_Site_p.S378_splice|PNPLA6_ENST00000414982.3_Splice_Site_p.S426_splice	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													58	237					0	0	1	0	0	G	7606952	A	G	7606952	5	3	22	1	0	0	0	0	0	0	1	0	12217	202	7	3	1320	3	PNPLA6	19	7606952	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11608	7606952	51522031	17868	20014											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600737.1_Silent_p.G663G|PNPLA6_ENST00000450331.3_Silent_p.G624G|PNPLA6_ENST00000414982.3_Silent_p.G672G|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													34	124					0	0	1	0	0	A	7615445	G	A	7615445	2	1	22	1	0	0	0	0	0	0	0	1	12217	1190	42	2		2	PNPLA6	19	7615445	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8493	7615445	51513538	17869	20015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600737.1_Missense_Mutation_p.R929L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R891L|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R939L	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													11	88					5.50884e-06	5.65664e-06	1	1	0	T	7619930	G	T	7619930	3	4	22	1	0	0	0	0	1	0	0	0	12217	1087	38	4	2906	4	PNPLA6	19	7619930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4485	7619930	51509053	17870	20016											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					38	349					0	0	1	0	0	A	7687518	G	A	7687518	2	1	22	1	0	0	0	0	0	0	0	1	17478	1103	39	1		1	XAB2	19	7687518	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67588	7687518	51441465	17871	20017											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					13	185					7.03913e-09	7.37812e-09	1	1	0	T	7687725	G	T	7687725	3	4	22	1	0	0	0	0	1	0	0	0	17478	991	35	2	1313	2	XAB2	19	7687725	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	207	7687725	51441258	17872	20018											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					51	202					0	0	1	0	0	A	7693095	G	A	7693095	2	1	22	1	0	0	0	0	0	0	0	1	17478	1074	38	1		1	XAB2	19	7693095	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5370	7693095	51435888	17873	20019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	300					0	0	1	0	0	A	7707143	G	A	7707143	3	1	22	1	0	0	0	0	1	0	0	0	15409	1145	40	1	752	1	STXBP2	19	7707143	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14048	7707143	51421840	17874	20020											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													217	828					0	0	1	0	0	T	7707366	C	T	7707366	2	4	22	1	0	0	0	0	0	0	0	1	15409	535	19	1		1	STXBP2	19	7707366	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	223	7707366	51421617	17875	20021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000596148.1_Missense_Mutation_p.S154N|TRAPPC5_ENST00000426877.2_Missense_Mutation_p.S154N|TRAPPC5_ENST00000595985.1_Missense_Mutation_p.S87N	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													19	117					0	0	1	0	0	A	7747600	G	A	7747600	3	1	22	1	0	0	0	0	1	0	0	0	16523	971	34	2	463	2	TRAPPC5	19	7747600	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40234	7747600	51381383	17876	20022											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	47					0	0	1	0	0	T	7796186	C	T	7796186	2	4	22	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	17877	20023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000315591.8_Silent_p.K95K|CD209_ENST00000601951.1_Silent_p.K95K|CD209_ENST00000394173.4_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Silent_p.K119K|CD209_ENST00000354397.6_Silent_p.K119K|CD209_ENST00000593821.1_Silent_p.K75K|CD209_ENST00000601256.1_Silent_p.K95K|CD209_ENST00000301357.8_Silent_p.K75K|CD209_ENST00000204801.8_Silent_p.K75K|CD209_ENST00000593660.1_Silent_p.K95K	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													41	853					0	0	1	0	0	T	7810795	C	T	7810795	2	4	22	1	0	0	0	0	0	0	0	1	3006	796	28	2		2	CD209	19	7810795	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14609	7810795	51318188	17878	20024											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000597522.1_Intron|CLEC4M_ENST00000327325.5_Intron|CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000394122.2_Intron|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000248228.4_Intron|CLEC4M_ENST00000595496.1_Silent_p.G49G|CLEC4M_ENST00000596707.1_Silent_p.G49G	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													65	308					0	0	1	0	0	T	7830519	C	T	7830519	2	4	22	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	17879	20025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359059.5_Missense_Mutation_p.A234V|CLEC4M_ENST00000597522.1_Missense_Mutation_p.A209V|CLEC4M_ENST00000334806.5_Missense_Mutation_p.A250V|CLEC4M_ENST00000596363.1_Missense_Mutation_p.A273V|CLEC4M_ENST00000394122.2_Missense_Mutation_p.A289V|CLEC4M_ENST00000357361.2_Missense_Mutation_p.A301V|CLEC4M_ENST00000248228.4_Missense_Mutation_p.A279V|CLEC4M_ENST00000595496.1_Missense_Mutation_p.A165V|CLEC4M_ENST00000596707.1_Missense_Mutation_p.A234V	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													91	362					0	0	1	0	0	T	7831659	C	T	7831659	3	4	22	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	17880	20026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													130	507					0	0	1	0	0	A	7963918	G	A	7963918	3	1	22	1	0	0	0	0	1	0	0	0	9070	1116	39	1	517	1	LRRC8E	19	7963918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132259	7963918	51165065	17881	20027											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397979.3_Splice_Site|MAP2K7_ENST00000397981.3_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													5	56					0	0	1	0	0	A	7974947	G	A	7974947	5	1	22	1	0	0	0	0	0	0	1	0	9292	985	34	2	276	2	MAP2K7	19	7974947	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11029	7974947	51154036	17882	20028											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397979.3_Missense_Mutation_p.D243N|MAP2K7_ENST00000397981.3_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													51	227					0	0	1	0	0	A	7975916	G	A	7975916	3	1	22	1	0	0	0	0	1	0	0	0	9292	1058	37	1	753	1	MAP2K7	19	7975916	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	969	7975916	51153067	17883	20029											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	267					0	0	1	0	0	A	8003069	G	A	8003069	3	1	22	1	0	0	0	0	1	0	0	0	15972	942	33	2	1247	2	TIMM44	19	8003069	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27153	8003069	51125914	17884	20030											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000596459.1_Silent_p.L199L|ELAVL1_ENST00000351593.5_Silent_p.L226L|ELAVL1_ENST00000593807.1_Intron	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													7	259					0	0	1	0	0	A	8032510	G	A	8032510	2	1	22	1	0	0	0	0	0	0	0	1	5077	962	34	2		2	ELAVL1	19	8032510	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29441	8032510	51096473	17885	20031											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000596459.1_Missense_Mutation_p.S60I|ELAVL1_ENST00000351593.5_Missense_Mutation_p.S87I|ELAVL1_ENST00000593807.1_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													63	252					5.85407e-19	6.51309e-19	1	1	0	A	8046064	C	A	8046064	3	1	22	1	0	0	0	0	1	0	0	0	5077	797	28	2	817	2	ELAVL1	19	8046064	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13554	8046064	51082919	17886	20032											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	193					0	0	1	0	0	T	8155129	C	T	8155129	3	4	22	1	0	0	0	0	1	0	0	0	5737	652	23	1	2455	1	FBN3	19	8155129	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109065	8155129	50973854	17887	20033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	208					0	0	1	0	0	T	8175947	C	T	8175947	3	4	22	1	0	0	0	0	1	0	0	0	5737	710	25	2	4352	2	FBN3	19	8175947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20818	8175947	50953036	17888	20034											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	110					5.18039e-06	5.32547e-06	1	1	0	A	8203051	C	A	8203051	3	1	22	1	0	0	0	0	1	0	0	0	5737	797	28	2	7474	2	FBN3	19	8203051	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27104	8203051	50925932	17889	20035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	60					0	0	1	0	0	A	8209804	G	A	8209804	2	1	22	1	0	0	0	0	0	0	0	1	5737	958	34	2		2	FBN3	19	8209804	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6753	8209804	50919179	17890	20036											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8367489G>A	ENST00000301458.5	-	5	771	c.706_splice	c.e5-1	p.A236_splice	CD320_ENST00000537716.2_Splice_Site_p.A194_splice	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													61	249					0	0	1	0	0	A	8367489	G	A	8367489	5	1	22	1	0	0	0	0	0	0	1	0	3026	1101	38	1	145	1	CD320	19	8367489	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157685	8367489	50761494	17891	20037											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	410					0	0	1	0	0	T	8381461	C	T	8381461	3	4	22	1	0	0	0	0	1	0	0	0	10317	768	27	1	179	1	NDUFA7	19	8381461	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13972	8381461	50747522	17892	20038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	46					0.0135373	0.0136081	1	1	0	A	8386871	C	A	8386871	3	1	22	1	0	0	0	0	1	0	0	0	13693	855	30	2	132	2	RPS28	19	8386871	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5410	8386871	50742112	17893	20039											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000601283.1_Missense_Mutation_p.G11C|MARCH2_ENST00000393944.1_Missense_Mutation_p.G11C|MARCH2_ENST00000215555.2_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													59	330					2.59843e-28	3.0222e-28	1	1	0	T	8486755	G	T	8486755	3	4	22	1	0	0	0	0	1	0	0	0	9351	1116	39	4	33	4	MARCH2	19	8486755	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99884	8486755	50642228	17894	20040											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000601283.1_Intron|MARCH2_ENST00000393944.1_Missense_Mutation_p.S171N|MARCH2_ENST00000215555.2_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													42	200					0	0	1	0	0	A	8495681	G	A	8495681	3	1	22	1	0	0	0	0	1	0	0	0	9351	971	34	2	522	2	MARCH2	19	8495681	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8926	8495681	50633302	17895	20041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	279					6.20995e-33	7.34829e-33	1	1	0	A	8528515	C	A	8528515	3	1	22	1	0	0	0	0	1	0	0	0	7312	797	28	2	401	2	HNRNPM	19	8528515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32834	8528515	50600468	17896	20042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	290					0	0	1	0	0	T	8548057	C	T	8548057	3	4	22	1	0	0	0	0	1	0	0	0	7312	710	25	2	1186	2	HNRNPM	19	8548057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19542	8548057	50580926	17897	20043											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	470					0	0	1	0	0	A	8550883	G	A	8550883	3	1	22	1	0	0	0	0	1	0	0	0	7312	1087	38	1	1625	1	HNRNPM	19	8550883	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2826	8550883	50578100	17898	20044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	473					0	0	1	0	0	T	8550903	C	T	8550903	3	4	22	1	0	0	0	0	1	0	0	0	7312	768	27	1	1645	1	HNRNPM	19	8550903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	8550903	50578080	17899	20045											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	309					0	0	1	0	0	T	8551214	C	T	8551214	2	4	22	1	0	0	0	0	0	0	0	1	7312	883	31	1		1	HNRNPM	19	8551214	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	311	8551214	50577769	17900	20046											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	61					0	0	1	0	0	G	8555099	T	G	8555099	3	3	22	1	0	0	0	0	1	0	0	0	12472	1841	64	3	29	3	PRAM1	19	8555099	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3885	8555099	50573884	17901	20047	133	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	55					0	0	1	0	0	G	8555100	T	G	8555100	3	3	22	1	0	0	0	0	1	0	0	0	12472	1838	64	3	30	3	PRAM1	19	8555100	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1	8555100	50573883	17902	20048	133	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	210					0	0	1	0	0	T	8555240	C	T	8555240	3	4	22	1	0	0	0	0	1	0	0	0	12472	884	31	1	63	1	PRAM1	19	8555240	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140	8555240	50573743	17903	20049											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													133	626					0	0	1	0	0	A	8564513	G	A	8564513	3	1	22	1	0	0	0	0	1	0	0	0	12472	1116	39	1	1866	1	PRAM1	19	8564513	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9273	8564513	50564470	17904	20050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	23					0	0	1	0	0	A	8578036	G	A	8578036	4	1	22	1	0	0	0	0	0	1	0	0	17948	1328	46	2	1021	2	ZNF414	19	8578036	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13523	8578036	50550947	17905	20051											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													151	659					0	0	1	0	0	A	8595095	G	A	8595095	2	1	22	1	0	0	0	0	0	0	0	1	10121	1140	40	1		1	MYO1F	19	8595095	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17059	8595095	50533888	17906	20052											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													192	881					0	0	1	0	0	A	8612995	G	A	8612995	2	1	22	1	0	0	0	0	0	0	0	1	10121	1049	37	1		1	MYO1F	19	8612995	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17900	8612995	50515988	17907	20053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													133	568					0	0	1	0	0	A	8619390	G	A	8619390	2	1	22	1	0	0	0	0	0	0	0	1	10121	1048	37	1		1	MYO1F	19	8619390	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6395	8619390	50509593	17908	20054											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_848620.2	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													54	229					0	0	1	0	0	A	8808336	G	A	8808336	3	1	22	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	17909	20055			1	3		5	5	324	N	G_C	7.644569e-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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_848620.2	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													61	219					0	0	1	0	0	A	8808354	G	A	8808354	3	1	22	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	17910	20056			1	3		5	5	324	N	G_C	7.644569e-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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_848620.2	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													7	331					0	0	1	0	0	A	8808399	G	A	8808399	3	1	22	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	17911	20057			1	3		5	5	324	N	G_C	7.644569e-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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_848620.2	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													64	265					0	0	1	0	0	T	8808430	C	T	8808430	3	4	22	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	17912	20058			1	3		5	5	324	N	G_C	7.644569e-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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_848620.2	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													72	287					0	0	1	0	0	A	8808659	G	A	8808659	2	1	22	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	17913	20059			1	3		5	5	324	N	G_C	7.644569e-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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	420					0	0	1	0	0	A	8841503	G	A	8841503	3	1	22	1	0	0	0	0	1	0	0	0	11084	1203	42	2	115	2	OR2Z1	19	8841503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32844	8841503	50287480	17914	20060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	479					0	0	1	0	0	A	8841551	G	A	8841551	3	1	22	1	0	0	0	0	1	0	0	0	11084	1116	39	1	163	1	OR2Z1	19	8841551	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	8841551	50287432	17915	20061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	293					0	0	1	0	0	A	8842076	G	A	8842076	3	1	22	1	0	0	0	0	1	0	0	0	11084	1087	38	1	688	1	OR2Z1	19	8842076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	525	8842076	50286907	17916	20062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000444186.2_5'UTR|ZNF558_ENST00000301475.1_Silent_p.G41G			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													100	370					0	0	1	0	0	A	8931980	G	A	8931980	2	1	22	1	0	0	0	0	0	0	0	1	18046	958	34	2		2	ZNF558	19	8931980	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89904	8931980	50197003	17917	20063											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	313					2.23399e-28	2.59905e-28	1	1	0	T	8953519	G	T	8953519	3	4	22	1	0	0	0	0	1	0	0	0	9395	1241	43	2	167	2	MBD3L1	19	8953519	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21539	8953519	50175464	17918	20064											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	57					3.27435e-08	3.41456e-08	1	1	0	T	8973992	G	T	8973992	3	4	22	1	0	0	0	0	1	0	0	0	10021	962	34	2	880	2	MUC16	19	8973992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20473	8973992	50154991	17919	20065											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	68					0	0	1	0	0	A	8974076	G	A	8974076	3	1	22	1	0	0	0	0	1	0	0	0	10021	1115	39	1	964	1	MUC16	19	8974076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84	8974076	50154907	17920	20066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	226					3.41278e-10	3.61262e-10	1	1	0	A	8982221	C	A	8982221	3	1	22	1	0	0	0	0	1	0	0	0	10021	796	28	2	1529	2	MUC16	19	8982221	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8145	8982221	50146762	17921	20067											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8995635C>T	ENST00000397910.4	-	63	41556	c.41353_splice	c.e63+1	p.A13785_splice	MUC16_ENST00000380951.5_Splice_Site_p.A426_splice	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													15	61					0	0	1	0	0	T	8995635	C	T	8995635	5	4	22	1	0	0	0	0	0	0	1	0	10021	695	24	2	2258	2	MUC16	19	8995635	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13414	8995635	50133348	17922	20068											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	285					0	0	1	0	0	T	8997154	C	T	8997154	3	4	22	1	0	0	0	0	1	0	0	0	10021	739	26	2	2581	2	MUC16	19	8997154	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1519	8997154	50131829	17923	20069											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	309					0	0	1	0	0	A	8999547	G	A	8999547	3	1	22	1	0	0	0	0	1	0	0	0	10021	1319	46	2	3011	2	MUC16	19	8999547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2393	8999547	50129436	17924	20070											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9000566G>A	ENST00000397910.4	-	54	40621	c.40417_splice	c.e54-1	p.T13473_splice	MUC16_ENST00000380951.5_Splice_Site_p.T114_splice	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													59	237					0	0	1	0	0	A	9000566	G	A	9000566	5	1	22	1	0	0	0	0	0	0	1	0	10021	1217	42	2	3229	2	MUC16	19	9000566	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1019	9000566	50128417	17925	20071											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	96					0	0	1	0	0	A	9002161	G	A	9002161	3	1	22	1	0	0	0	0	1	0	0	0	10021	1261	44	2	3312	2	MUC16	19	9002161	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1595	9002161	50126822	17926	20072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	576					0	0	1	0	0	T	9015664	C	T	9015664	3	4	22	1	0	0	0	0	1	0	0	0	10021	739	26	2	5588	2	MUC16	19	9015664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13503	9015664	50113319	17927	20073											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	192					3.77171e-38	4.54164e-38	1	1	0	T	9046155	G	T	9046155	3	4	22	1	0	0	0	0	1	0	0	0	10021	1029	36	2	8367	2	MUC16	19	9046155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30491	9046155	50082828	17928	20074											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	245					0	0	1	0	0	C	9046323	T	C	9046323	3	2	22	1	0	0	0	0	1	0	0	0	10021	1667	58	3	8535	3	MUC16	19	9046323	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	168	9046323	50082660	17929	20075											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	433					0	0	1	0	0	C	9047105	A	C	9047105	3	2	22	1	0	0	0	0	1	0	0	0	10021	14	1	3	9317	3	MUC16	19	9047105	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	782	9047105	50081878	17930	20076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	101					0	0	1	0	0	C	9047793	T	C	9047793	3	2	22	1	0	0	0	0	1	0	0	0	10021	1667	58	3	10005	3	MUC16	19	9047793	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	688	9047793	50081190	17931	20077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	322					5.05997e-48	6.23844e-48	1	1	0	T	9048279	G	T	9048279	3	4	22	1	0	0	0	0	1	0	0	0	10021	942	33	2	10491	2	MUC16	19	9048279	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	486	9048279	50080704	17932	20078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	449					8.98033e-41	1.08974e-40	1	1	0	A	9048837	C	A	9048837	4	1	22	1	0	0	0	0	0	1	0	0	10021	690	24	2	11049	2	MUC16	19	9048837	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	558	9048837	50080146	17933	20079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	103					1.64113e-05	1.68037e-05	1	1	0	A	9054331	C	A	9054331	4	1	22	1	0	0	0	0	0	1	0	0	10021	864	30	2	12556	2	MUC16	19	9054331	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5494	9054331	50074652	17934	20080											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													200	866					4.62547e-62	5.82772e-62	1	1	0	A	9057514	C	A	9057514	3	1	22	1	0	0	0	0	1	0	0	0	10021	797	28	2	13919	2	MUC16	19	9057514	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3183	9057514	50071469	17935	20081											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	280					0	0	1	0	0	C	9058483	T	C	9058483	3	2	22	1	0	0	0	0	1	0	0	0	10021	1667	58	3	14888	3	MUC16	19	9058483	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	969	9058483	50070500	17936	20082											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	330					0	0	1	0	0	A	9060121	T	A	9060121	3	1	22	1	0	0	0	0	1	0	0	0	10021	1725	60	5	16526	5	MUC16	19	9060121	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1638	9060121	50068862	17937	20083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	388					0	0	1	0	0	C	9061129	T	C	9061129	3	2	22	1	0	0	0	0	1	0	0	0	10021	1493	52	3	17534	3	MUC16	19	9061129	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1008	9061129	50067854	17938	20084											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	412					1.58717e-37	1.90651e-37	1	1	0	A	9062517	C	A	9062517	3	1	22	1	0	0	0	0	1	0	0	0	10021	681	24	2	18922	2	MUC16	19	9062517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1388	9062517	50066466	17939	20085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													159	781					0	0	1	0	0	T	9066782	C	T	9066782	2	4	22	1	0	0	0	0	0	0	0	1	10021	871	31	1		1	MUC16	19	9066782	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4265	9066782	50062201	17940	20086											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	140					0	0	1	0	0	C	9067822	T	C	9067822	3	2	22	1	0	0	0	0	1	0	0	0	10021	1667	58	3	24227	3	MUC16	19	9067822	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1040	9067822	50061161	17941	20087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													170	774					0	0	1	0	0	A	9070734	G	A	9070734	3	1	22	1	0	0	0	0	1	0	0	0	10021	1029	36	2	27139	2	MUC16	19	9070734	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2912	9070734	50058249	17942	20088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	2128					2.32078e-09	2.442e-09	1	1	0	A	9071209	C	A	9071209	4	1	22	1	0	0	0	0	0	1	0	0	10021	922	32	2	27614	2	MUC16	19	9071209	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	475	9071209	50057774	17943	20089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	237					0	0	1	0	0	G	9072986	A	G	9072986	2	3	22	1	0	0	0	0	0	0	0	1	10021	446	16	3		3	MUC16	19	9072986	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1777	9072986	50055997	17944	20090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	333					1.08141e-31	1.27425e-31	1	1	0	T	9075035	G	T	9075035	2	4	22	1	0	0	0	0	0	0	0	1	10021	929	33	2		2	MUC16	19	9075035	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2049	9075035	50053948	17945	20091											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	121					3.28513e-13	3.54196e-13	1	1	0	T	9084855	G	T	9084855	2	4	22	1	0	0	0	0	0	0	0	1	10021	987	35	2		2	MUC16	19	9084855	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9820	9084855	50044128	17946	20092											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													135	657					0	0	1	0	0	A	9085462	G	A	9085462	3	1	22	1	0	0	0	0	1	0	0	0	10021	1087	38	1	37506	1	MUC16	19	9085462	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	607	9085462	50043521	17947	20093											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													168	724					0	0	1	0	0	C	9085546	A	C	9085546	3	2	22	1	0	0	0	0	1	0	0	0	10021	14	1	3	37590	3	MUC16	19	9085546	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	84	9085546	50043437	17948	20094											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													130	613					0	0	1	0	0	T	9089523	C	T	9089523	2	4	22	1	0	0	0	0	0	0	0	1	10021	796	28	2		2	MUC16	19	9089523	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3977	9089523	50039460	17949	20095											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	519					0	0	1	0	0	A	9089904	G	A	9089904	2	1	22	1	0	0	0	0	0	0	0	1	10021	1103	39	1		1	MUC16	19	9089904	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	381	9089904	50039079	17950	20096											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	242					6.08268e-21	6.83416e-21	1	1	0	T	9090171	G	T	9090171	2	4	22	1	0	0	0	0	0	0	0	1	10021	1219	43	2		2	MUC16	19	9090171	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	267	9090171	50038812	17951	20097											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	189					1.00953e-15	1.10482e-15	1	1	0	A	9090699	C	A	9090699	3	1	22	1	0	0	0	0	1	0	0	0	10021	912	32	2	42743	2	MUC16	19	9090699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	528	9090699	50038284	17952	20098											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	573					0	0	1	0	0	T	9204616	C	T	9204616	2	4	22	1	0	0	0	0	0	0	0	1	11016	755	27	1		1	OR1M1	19	9204616	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113917	9204616	49924367	17953	20099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	588					0	0	1	0	0	A	9236904	G	A	9236904	2	1	22	1	0	0	0	0	0	0	0	1	11271	1079	38	1		1	OR7G3	19	9236904	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32288	9236904	49892079	17954	20100											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	270					0	0	1	0	0	G	9237060	A	G	9237060	2	3	22	1	0	0	0	0	0	0	0	1	11271	41	2	3		3	OR7G3	19	9237060	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	156	9237060	49891923	17955	20101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	307					0	0	1	0	0	C	9271217	T	C	9271217	3	2	22	1	0	0	0	0	1	0	0	0	17892	1725	60	3	918	3	ZNF317	19	9271217	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34157	9271217	49857766	17956	20102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													144	670					1.18489e-69	1.50393e-69	1	1	0	A	9296785	C	A	9296785	3	1	22	1	0	0	0	0	1	0	0	0	11266	912	32	2	330	2	OR7D2	19	9296785	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25568	9296785	49832198	17957	20103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	315					0	0	1	0	0	A	9324695	G	A	9324695	2	1	22	1	0	0	0	0	0	0	0	1	11267	1103	39	1		1	OR7D4	19	9324695	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27910	9324695	49804288	17958	20104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	419					0	0	1	0	0	T	9324922	C	T	9324922	3	4	22	1	0	0	0	0	1	0	0	0	11267	478	17	2	350	2	OR7D4	19	9324922	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227	9324922	49804061	17959	20105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	417					0	0	1	0	0	A	9325388	G	A	9325388	2	1	22	1	0	0	0	0	0	0	0	1	11267	1252	44	2		2	OR7D4	19	9325388	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	466	9325388	49803595	17960	20106											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	356					0	0	1	0	0	C	9325480	A	C	9325480	3	2	22	1	0	0	0	0	1	0	0	0	11267	101	4	3	908	3	OR7D4	19	9325480	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	92	9325480	49803503	17961	20107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	231					2.84144e-21	3.19776e-21	1	1	0	A	9362113	C	A	9362113	3	1	22	1	0	0	0	0	1	0	0	0	11268	797	28	2	396	2	OR7E24	19	9362113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36633	9362113	49766870	17962	20108											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	78					0	0	1	0	0	C	9362432	A	C	9362432	3	2	22	1	0	0	0	0	1	0	0	0	11268	14	1	3	715	3	OR7E24	19	9362432	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	319	9362432	49766551	17963	20109											
ZNF699	374879	broad.mit.edu	37	chr19	9406257	9406257	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggtttctctccagtgtggCttctcacatgccttcgaaag	10	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9406257C>A	ENST00000591998.1	-	6	2051	c.1823G>T	c.(1822-1824)aGc>aTc	p.S608I	ZNF699_ENST00000308650.3_Missense_Mutation_p.S608I			Q32M78	ZN699_HUMAN	zinc finger protein 699	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCAGTGTGGCTTCTCACATG	0.443													82	331					2.13431e-38	2.57195e-38	1	1	0	A	9406257	C	A	9406257	3	1	22	1	0	0	0	0	1	0	0	0	18157	797	28	2	109	2	ZNF699	19	9406257	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43825	9406257	49722726	17964	20110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541595.2_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000538743.1_Silent_p.A197A|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000587557.1_Silent_p.A341A|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000603380.1_Silent_p.A277A|ZNF177_ENST00000602856.1_Intron	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													87	423					0	0	1	0	0	T	9452958	C	T	9452958	2	4	22	1	0	0	0	0	0	0	0	1	18047	668	24	2		2	ZNF559	19	9452958	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46701	9452958	49676025	17965	20111											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541595.2_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.R340Q|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000587557.1_Missense_Mutation_p.R484Q|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.R420Q|ZNF177_ENST00000602856.1_Intron	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													67	318					0	0	1	0	0	A	9453386	G	A	9453386	3	1	22	1	0	0	0	0	1	0	0	0	18047	1058	37	1	1273	1	ZNF559	19	9453386	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	428	9453386	49675597	17966	20112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434737.2_Missense_Mutation_p.D341G|ZNF177_ENST00000589262.1_Missense_Mutation_p.D341G|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000602738.1_Missense_Mutation_p.D181G|ZNF177_ENST00000343499.4_Missense_Mutation_p.D181G|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000602856.1_3'UTR	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													67	286					0	0	1	0	0	G	9492029	A	G	9492029	3	3	22	1	0	0	0	0	1	0	0	0	17804	275	10	3	1040	3	ZNF177	19	9492029	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	38643	9492029	49636954	17967	20113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535489.1_Silent_p.K362K|ZNF426_ENST00000253115.2_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													66	254					0	0	1	0	0	T	9639635	C	T	9639635	2	4	22	1	0	0	0	0	0	0	0	1	17957	796	28	2		2	ZNF426	19	9639635	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147606	9639635	49489348	17968	20114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535489.1_Missense_Mutation_p.N77S|ZNF426_ENST00000253115.2_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													45	490					0	0	1	0	0	C	9644530	T	C	9644530	3	2	22	1	0	0	0	0	1	0	0	0	17957	1725	60	3	1450	3	ZNF426	19	9644530	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4895	9644530	49484453	17969	20115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000326044.5_3'UTR|ZNF561_ENST00000424629.1_Missense_Mutation_p.R372Q|ZNF561_ENST00000354661.4_Missense_Mutation_p.R305Q	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													143	727					0	0	1	0	0	T	9721015	C	T	9721015	3	4	22	1	0	0	0	0	1	0	0	0	18049	884	31	1	142	1	ZNF561	19	9721015	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76485	9721015	49407968	17970	20116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000592859.1_Missense_Mutation_p.R76I|ZNF846_ENST00000588267.1_Missense_Mutation_p.R76I|ZNF846_ENST00000586293.1_3'UTR	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													49	266					1.86633e-21	2.10207e-21	1	1	0	A	9869139	C	A	9869139	3	1	22	1	0	0	0	0	1	0	0	0	18236	913	32	2	991	2	ZNF846	19	9869139	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148124	9869139	49259844	17971	20117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585379.1_Missense_Mutation_p.S149I|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.S149I|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													73	255					5.44642e-36	6.51243e-36	1	1	0	A	9921948	C	A	9921948	3	1	22	1	0	0	0	0	1	0	0	0	5741	797	28	2	379	2	FBXL12	19	9921948	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52809	9921948	49207035	17972	20118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000587625.1_Silent_p.N47N|PIN1_ENST00000588695.1_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													15	61					0	0	1	0	0	T	9949194	C	T	9949194	2	4	22	1	0	0	0	0	0	0	0	1	11978	535	19	1		1	PIN1	19	9949194	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27246	9949194	49179789	17973	20119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	301					0	0	1	0	0	T	9964924	C	T	9964924	3	4	22	1	0	0	0	0	1	0	0	0	10901	652	23	1	65	1	OLFM2	19	9964924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15730	9964924	49164059	17974	20120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	155					0	0	1	0	0	T	9965413	C	T	9965413	3	4	22	1	0	0	0	0	1	0	0	0	10901	536	19	1	554	1	OLFM2	19	9965413	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	489	9965413	49163570	17975	20121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	118					0	0	1	0	0	T	9965432	C	T	9965432	2	4	22	1	0	0	0	0	0	0	0	1	10901	523	19	1		1	OLFM2	19	9965432	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	9965432	49163551	17976	20122											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	273					3.37043e-27	3.8985e-27	1	1	0	A	9968460	C	A	9968460	3	1	22	1	0	0	0	0	1	0	0	0	10901	912	32	2	1089	2	OLFM2	19	9968460	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3028	9968460	49160523	17977	20123											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	49					0	0	1	0	0	A	9971444	G	A	9971444	2	1	22	1	0	0	0	0	0	0	0	1	10901	958	34	2		2	OLFM2	19	9971444	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2984	9971444	49157539	17978	20124											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	326					9.40535e-28	1.0908e-27	1	1	0	A	10081698	C	A	10081698	3	1	22	1	0	0	0	0	1	0	0	0	3721	913	32	2	1462	2	COL5A3	19	10081698	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110254	10081698	49047285	17979	20125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	315					0	0	1	0	0	T	10091784	C	T	10091784	3	4	22	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	17980	20126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	197					0	0	1	0	0	T	10100162	C	T	10100162	3	4	22	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	17981	20127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	68	318					2.69673e-31	3.17273e-31	1	1	0	A	10114292	C	A	10114292	3	1	22	1	0	0	0	0	1	0	0	0	3721	912	32	2	4687	2	COL5A3	19	10114292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14130	10114292	49014691	17982	20128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	422					0	0	1	0	0	G	10129521	T	G	10129521	3	3	22	1	0	0	0	0	1	0	0	0	13248	1609	56	3	387	3	RDH8	19	10129521	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15229	10129521	48999462	17983	20129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	260					0	0	1	0	0	T	10132384	C	T	10132384	2	4	22	1	0	0	0	0	0	0	0	1	13248	912	32	2		2	RDH8	19	10132384	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2863	10132384	48996599	17984	20130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	48					0.000157383	0.000159814	1	1	0	A	10200693	C	A	10200693	2	1	22	1	0	0	0	0	0	0	0	1	1958	900	32	2		2	C19orf66	19	10200693	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68309	10200693	48928290	17985	20131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	269					0	0	1	0	0	T	10205540	C	T	10205540	3	4	22	1	0	0	0	0	1	0	0	0	614	710	25	2	771	2	ANGPTL6	19	10205540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4847	10205540	48923443	17986	20132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393796.4_Silent_p.A566A|P2RY11_ENST00000321826.4_Silent_p.A146A|PPAN-P2RY11_ENST00000428358.1_3'UTR					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													49	328					5.34276e-22	6.03513e-22	1	1	0	A	10224727	C	A	10224727	2	1	22	1	0	0	0	0	0	0	0	1	12333	668	24	2		2	PPAN	19	10224727	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19187	10224727	48904256	17987	20133											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393796.4_Silent_p.G728G|P2RY11_ENST00000321826.4_Silent_p.G308G|PPAN-P2RY11_ENST00000428358.1_3'UTR					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													68	351					0	0	1	0	0	T	10225213	C	T	10225213	2	4	22	1	0	0	0	0	0	0	0	1	12333	726	26	2		2	PPAN	19	10225213	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	486	10225213	48903770	17988	20134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393796.4_Silent_p.G749G|P2RY11_ENST00000321826.4_Silent_p.G329G|PPAN-P2RY11_ENST00000428358.1_3'UTR					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													72	366					0	0	1	0	0	T	10225276	C	T	10225276	2	4	22	1	0	0	0	0	0	0	0	1	12333	784	28	2		2	PPAN	19	10225276	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63	10225276	48903707	17989	20135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	304					0	0	1	0	0	A	10226166	G	A	10226166	2	1	22	1	0	0	0	0	0	0	0	1	5045	1045	37	1		1	EIF3G	19	10226166	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	890	10226166	48902817	17990	20136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	580					0	0	1	0	0	A	10385700	G	A	10385700	2	1	22	1	0	0	0	0	0	0	0	1	7523	1364	48	2		2	ICAM1	19	10385700	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	159534	10385700	48743283	17991	20137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	576					0	0	1	0	0	T	10394718	C	T	10394718	3	4	22	1	0	0	0	0	1	0	0	0	7523	768	27	1	661	1	ICAM1	19	10394718	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9018	10394718	48734265	17992	20138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	392					0	0	1	0	0	T	10395085	C	T	10395085	3	4	22	1	0	0	0	0	1	0	0	0	7523	652	23	1	950	1	ICAM1	19	10395085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	367	10395085	48733898	17993	20139											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	600					0	0	1	0	0	T	10402269	C	T	10402269	3	4	22	1	0	0	0	0	1	0	0	0	7527	681	24	2	467	2	ICAM5	19	10402269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7184	10402269	48726714	17994	20140											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	1560					0	0	1	0	0	G	10404950	A	G	10404950	3	3	22	1	0	0	0	0	1	0	0	0	7527	43	2	3	1976	3	ICAM5	19	10404950	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2681	10404950	48724033	17995	20141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	126					0	0	1	0	0	T	10406086	C	T	10406086	2	4	22	1	0	0	0	0	0	0	0	1	7527	825	29	2		2	ICAM5	19	10406086	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1136	10406086	48722897	17996	20142											
FDX1L	112812	broad.mit.edu	37	chr19	10426620	10426620	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaccaggtgcccctggcaGcctgcagtagaaccctggca	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10426620G>T	ENST00000541276.1	-	1	65	c.62C>A	c.(61-63)gCt>gAt	p.A21D	FDX1L_ENST00000494368.1_Intron|FDX1L_ENST00000393708.3_Missense_Mutation_p.A18D|CTD-2369P2.12_ENST00000586529.1_Intron|CTD-2369P2.10_ENST00000452032.2_Missense_Mutation_p.A18D			Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	18					electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			GCCCCTGGCAGCCTGCAGTAG	0.667													33	131					8.4185e-14	9.11178e-14	1	1	0	T	10426620	G	T	10426620	3	4	22	1	0	0	0	0	1	0	0	0	5838	971	34	2	518	2	FDX1L	19	10426620	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20534	10426620	48702363	17997	20143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	98					0	0	1	0	0	T	10434065	C	T	10434065	3	4	22	1	0	0	0	0	1	0	0	0	13146	768	27	1	1325	1	RAVER1	19	10434065	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7445	10434065	48694918	17998	20144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	671					0	0	1	0	0	A	10444592	G	A	10444592	3	1	22	1	0	0	0	0	1	0	0	0	7525	1203	42	2	62	2	ICAM3	19	10444592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10527	10444592	48684391	17999	20145											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	407					0	0	1	0	0	A	10444960	G	A	10444960	2	1	22	1	0	0	0	0	0	0	0	1	7525	958	34	2		2	ICAM3	19	10444960	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	368	10444960	48684023	18000	20146											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000529370.1_Missense_Mutation_p.R607H|TYK2_ENST00000264818.6_Missense_Mutation_p.R607H|TYK2_ENST00000524462.1_Missense_Mutation_p.R422H	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													111	477					0	0	1	0	0	T	10472585	C	T	10472585	3	4	22	1	0	0	0	0	1	0	0	0	16872	768	27	1	1795	1	TYK2	19	10472585	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27625	10472585	48656398	18001	20147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	975					2.96794e-49	3.6705e-49	1	1	0	A	10505909	C	A	10505909	4	1	22	1	0	0	0	0	0	1	0	0	3090	864	30	2	558	2	CDC37	19	10505909	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33324	10505909	48623074	18002	20148											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													198	802					0	0	1	0	0	A	10506754	G	A	10506754	2	1	22	1	0	0	0	0	0	0	0	1	3090	1074	38	1		1	CDC37	19	10506754	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	845	10506754	48622229	18003	20149											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352831.6_Missense_Mutation_p.D578N|PDE4A_ENST00000440014.2_Missense_Mutation_p.D517N|PDE4A_ENST00000344979.3_Missense_Mutation_p.D339N|PDE4A_ENST00000592685.1_Missense_Mutation_p.D556N			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													72	475					0	0	1	0	0	A	10572664	G	A	10572664	3	1	22	1	0	0	0	0	1	0	0	0	11686	1058	37	1	2239	1	PDE4A	19	10572664	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65910	10572664	48556319	18004	20150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352831.6_Silent_p.G878G|PDE4A_ENST00000440014.2_Silent_p.G817G|PDE4A_ENST00000344979.3_Silent_p.G639G|PDE4A_ENST00000592685.1_Silent_p.G856G			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													73	391					0	0	1	0	0	T	10578270	C	T	10578270	2	4	22	1	0	0	0	0	0	0	0	1	11686	755	27	1		1	PDE4A	19	10578270	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5606	10578270	48550713	18005	20151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	164					0	0	1	0	0	A	10599948	G	A	10599948	3	1	22	1	0	0	0	0	1	0	0	0	8184	1145	40	1	254	1	KEAP1	19	10599948	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21678	10599948	48529035	18006	20152											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	112					0	0	1	0	0	T	10625429	C	T	10625429	3	4	22	1	0	0	0	0	1	0	0	0	13849	768	27	1	941	1	S1PR5	19	10625429	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25481	10625429	48503554	18007	20153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	45					0	0	1	0	0	A	10657740	G	A	10657740	3	1	22	1	0	0	0	0	1	0	0	0	1098	1203	42	2	733	2	ATG4D	19	10657740	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32311	10657740	48471243	18008	20154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													180	728					0	0	1	0	0	T	10672384	C	T	10672384	2	4	22	1	0	0	0	0	0	0	0	1	8487	523	19	1		1	KRI1	19	10672384	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14644	10672384	48456599	18009	20155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407327.4_Silent_p.N387N|SLC44A2_ENST00000335757.5_Silent_p.N389N	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													127	609					0	0	1	0	0	T	10746125	C	T	10746125	2	4	22	1	0	0	0	0	0	0	0	1	14691	535	19	1		1	SLC44A2	19	10746125	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73741	10746125	48382858	18010	20156											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588214.1_3'UTR|SLC44A2_ENST00000407327.4_Silent_p.F580F|SLC44A2_ENST00000335757.5_Silent_p.F582F	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													74	734					0	0	1	0	0	T	10748582	C	T	10748582	2	4	22	1	0	0	0	0	0	0	0	1	14691	854	30	2		2	SLC44A2	19	10748582	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2457	10748582	48380401	18011	20157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407004.3_Missense_Mutation_p.R12C|ILF3_ENST00000420083.1_Missense_Mutation_p.R12C|ILF3_ENST00000318511.3_Missense_Mutation_p.R12C|ILF3_ENST00000250241.8_Missense_Mutation_p.R12C|ILF3_ENST00000588657.1_Missense_Mutation_p.R12C|ILF3_ENST00000592763.1_Missense_Mutation_p.R12C|ILF3_ENST00000590261.1_Missense_Mutation_p.R12C|ILF3_ENST00000589998.1_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													23	102					0	0	1	0	0	T	10781680	C	T	10781680	3	4	22	1	0	0	0	0	1	0	0	0	7756	652	23	1	40	1	ILF3	19	10781680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33098	10781680	48347303	18012	20158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407004.3_Missense_Mutation_p.E178D|ILF3_ENST00000420083.1_Missense_Mutation_p.E178D|ILF3_ENST00000318511.3_Missense_Mutation_p.E178D|ILF3_ENST00000250241.8_Missense_Mutation_p.E178D|ILF3_ENST00000588657.1_Missense_Mutation_p.E178D|ILF3_ENST00000592763.1_Missense_Mutation_p.E178D|ILF3_ENST00000590261.1_Missense_Mutation_p.E178D|ILF3_ENST00000589998.1_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													61	281					0	0	1	0	0	C	10787961	A	C	10787961	3	2	22	1	0	0	0	0	1	0	0	0	7756	69	3	3	548	3	ILF3	19	10787961	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6281	10787961	48341022	18013	20159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407004.3_Missense_Mutation_p.P597S|ILF3_ENST00000420083.1_Missense_Mutation_p.P593S|ILF3_ENST00000318511.3_Missense_Mutation_p.P593S|ILF3_ENST00000250241.8_Missense_Mutation_p.P593S|ILF3_ENST00000588657.1_Missense_Mutation_p.P597S|ILF3_ENST00000592763.1_Missense_Mutation_p.P597S|ILF3_ENST00000590261.1_Missense_Mutation_p.P593S|ILF3_ENST00000589998.1_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													32	358					0	0	1	0	0	T	10794144	C	T	10794144	3	4	22	1	0	0	0	0	1	0	0	0	7756	623	22	2	1843	2	ILF3	19	10794144	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6183	10794144	48334839	18014	20160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								61	296					0	0	1	0	0	A	10893745	G	A	10893745	2	1	22	1	0	0	0	0	0	0	0	1	4699	1190	42	2		2	DNM2	19	10893745	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99601	10893745	48235238	18015	20161											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								57	221					0	0	1	0	0	T	10934554	C	T	10934554	2	4	22	1	0	0	0	0	0	0	0	1	4699	755	27	1		1	DNM2	19	10934554	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40809	10934554	48194429	18016	20162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								202	862					0	0	1	0	0	A	10940946	G	A	10940946	3	1	22	1	0	0	0	0	1	0	0	0	4699	1116	39	1	2656	1	DNM2	19	10940946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6392	10940946	48188037	18017	20163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	249					4.25531e-23	4.83061e-23	1	1	0	A	11019791	C	A	11019791	3	1	22	1	0	0	0	0	1	0	0	0	2673	680	24	2	480	2	CARM1	19	11019791	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78845	11019791	48109192	18018	20164											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	104					0	0	1	0	0	T	11024705	C	T	11024705	2	4	22	1	0	0	0	0	0	0	0	1	2673	535	19	1		1	CARM1	19	11024705	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4914	11024705	48104278	18019	20165											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000253031.2_Missense_Mutation_p.L257M|YIPF2_ENST00000590329.1_Missense_Mutation_p.L218M			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													73	293					1.77355e-41	2.15486e-41	1	1	0	T	11034236	G	T	11034236	3	4	22	1	0	0	0	0	1	0	0	0	17538	962	34	2	189	2	YIPF2	19	11034236	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9531	11034236	48094747	18020	20166											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000253031.2_Missense_Mutation_p.R185W|YIPF2_ENST00000590329.1_Missense_Mutation_p.R146W			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													23	111					0	0	1	0	0	A	11034607	G	A	11034607	3	1	22	1	0	0	0	0	1	0	0	0	17538	1086	38	1	409	1	YIPF2	19	11034607	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	371	11034607	48094376	18021	20167											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589677.1_Missense_Mutation_p.R521W|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R521W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R521W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000590574.1_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								23	99					0	0	1	0	0	T	11105645	C	T	11105645	3	4	22	1	0	0	0	0	1	0	0	0	14824	759	27	1	1591	1	SMARCA4	19	11105645	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71038	11105645	48023338	18022	20168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589677.1_Silent_p.A574A|SMARCA4_ENST00000429416.3_Silent_p.A574A|SMARCA4_ENST00000541122.2_Silent_p.A574A|SMARCA4_ENST00000344626.4_Silent_p.A574A|SMARCA4_ENST00000450717.3_Silent_p.A574A|SMARCA4_ENST00000444061.3_Silent_p.A574A|SMARCA4_ENST00000413806.3_Silent_p.A574A|SMARCA4_ENST00000590574.1_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								117	490					9.16818e-52	1.13871e-51	1	1	0	A	11107017	C	A	11107017	2	1	22	1	0	0	0	0	0	0	0	1	14824	610	22	2		2	SMARCA4	19	11107017	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1372	11107017	48021966	18023	20169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589677.1_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000590574.1_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								21	85					0	0	1	0	0	T	11134266	C	T	11134266	4	4	22	1	0	0	0	0	0	1	0	0	14824	644	23	1	3006	1	SMARCA4	19	11134266	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27249	11134266	47994717	18024	20170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589677.1_Missense_Mutation_p.R1243W|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1243W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1243W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000590574.1_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								24	662					0	0	1	0	0	T	11144146	C	T	11144146	3	4	22	1	0	0	0	0	1	0	0	0	14824	759	27	1	3825	1	SMARCA4	19	11144146	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9880	11144146	47984837	18025	20171											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589677.1_Silent_p.D1404D|SMARCA4_ENST00000429416.3_Silent_p.D1434D|SMARCA4_ENST00000541122.2_Silent_p.D1404D|SMARCA4_ENST00000344626.4_Silent_p.D1434D|SMARCA4_ENST00000450717.3_Silent_p.D1404D|SMARCA4_ENST00000444061.3_Silent_p.D1401D|SMARCA4_ENST00000413806.3_Silent_p.D1404D|SMARCA4_ENST00000590574.1_Silent_p.D1401D	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								41	173					0	0	1	0	0	T	11152114	C	T	11152114	2	4	22	1	0	0	0	0	0	0	0	1	14824	535	19	1		1	SMARCA4	19	11152114	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7968	11152114	47976869	18026	20172											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589677.1_Silent_p.R1530R|SMARCA4_ENST00000429416.3_Silent_p.R1561R|SMARCA4_ENST00000541122.2_Silent_p.R1531R|SMARCA4_ENST00000344626.4_Silent_p.R1561R|SMARCA4_ENST00000450717.3_Silent_p.R1530R|SMARCA4_ENST00000444061.3_Silent_p.R1527R|SMARCA4_ENST00000413806.3_Silent_p.R1531R|SMARCA4_ENST00000590574.1_Silent_p.R1528R	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								20	84					0	0	1	0	0	A	11170476	G	A	11170476	2	1	22	1	0	0	0	0	0	0	0	1	14824	1190	42	2		2	SMARCA4	19	11170476	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18362	11170476	47958507	18027	20173											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589677.1_Silent_p.G1541G|SMARCA4_ENST00000429416.3_Silent_p.G1572G|SMARCA4_ENST00000541122.2_Silent_p.G1542G|SMARCA4_ENST00000344626.4_Silent_p.G1572G|SMARCA4_ENST00000450717.3_Silent_p.G1541G|SMARCA4_ENST00000444061.3_Silent_p.G1538G|SMARCA4_ENST00000413806.3_Silent_p.G1542G|SMARCA4_ENST00000590574.1_Silent_p.G1539G	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								37	133					0	0	1	0	0	T	11170509	C	T	11170509	2	4	22	1	0	0	0	0	0	0	0	1	14824	755	27	1		1	SMARCA4	19	11170509	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	11170509	47958474	18028	20174											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589359.1_Missense_Mutation_p.R380C|KANK2_ENST00000589894.1_Missense_Mutation_p.R380C|KANK2_ENST00000586659.1_Missense_Mutation_p.R380C|KANK2_ENST00000355150.5_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													69	307					0	0	1	0	0	A	11303618	G	A	11303618	3	1	22	1	0	0	0	0	1	0	0	0	8021	1116	39	1	1481	1	KANK2	19	11303618	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133109	11303618	47825365	18029	20175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589359.1_Silent_p.P320P|KANK2_ENST00000589894.1_Silent_p.P320P|KANK2_ENST00000586659.1_Silent_p.P320P|KANK2_ENST00000355150.5_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													19	136					0	0	1	0	0	T	11303796	C	T	11303796	2	4	22	1	0	0	0	0	0	0	0	1	8021	755	27	1		1	KANK2	19	11303796	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178	11303796	47825187	18030	20176											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.R679H	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													53	313					0	0	1	0	0	T	11326479	C	T	11326479	3	4	22	1	0	0	0	0	1	0	0	0	4718	536	19	1	2196	1	DOCK6	19	11326479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22683	11326479	47802504	18031	20177											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	192					2.75727e-19	3.0731e-19	1	1	0	A	11361633	C	A	11361633	4	1	22	1	0	0	0	0	0	1	0	0	4718	922	32	2	5678	2	DOCK6	19	11361633	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35154	11361633	47767350	18032	20178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RAB3D_ENST00000589655.1_Missense_Mutation_p.A209D|TSPAN16_ENST00000316737.1_Intron	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													34	111					9.65021e-13	1.03847e-12	1	1	0	T	11436108	G	T	11436108	3	4	22	1	0	0	0	0	1	0	0	0	12986	971	34	2	37	2	RAB3D	19	11436108	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74475	11436108	47692875	18033	20179											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													269	1137					0	0	1	0	0	A	11447893	G	A	11447893	2	1	22	1	0	0	0	0	0	0	0	1	12986	1277	45	2		2	RAB3D	19	11447893	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11785	11447893	47681090	18034	20180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	64					0	0	1	0	0	T	11465331	C	T	11465331	3	4	22	1	0	0	0	0	1	0	0	0	2810	855	30	2	886	2	CCDC159	19	11465331	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17438	11465331	47663652	18035	20181											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	250					0	0	1	0	0	A	11492692	G	A	11492692	3	1	22	1	0	0	0	0	1	0	0	0	5217	1145	40	1	1209	1	EPOR	19	11492692	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27361	11492692	47636291	18036	20182											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	172					0	0	1	0	0	A	11492759	G	A	11492759	3	1	22	1	0	0	0	0	1	0	0	0	5217	1058	37	1	1276	1	EPOR	19	11492759	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	11492759	47636224	18037	20183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545100.1_Missense_Mutation_p.G306D|CCDC151_ENST00000591179.1_Missense_Mutation_p.G300D|CCDC151_ENST00000586836.1_Missense_Mutation_p.G169D	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													24	555					0	0	1	0	0	T	11534583	C	T	11534583	3	4	22	1	0	0	0	0	1	0	0	0	2804	739	26	2	732	2	CCDC151	19	11534583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41824	11534583	47594400	18038	20184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545100.1_Missense_Mutation_p.R270H|CCDC151_ENST00000591179.1_Missense_Mutation_p.R264H|CCDC151_ENST00000586836.1_Missense_Mutation_p.R133H	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													186	849					0	0	1	0	0	T	11534691	C	T	11534691	3	4	22	1	0	0	0	0	1	0	0	0	2804	768	27	1	840	1	CCDC151	19	11534691	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108	11534691	47594292	18039	20185											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000412601.1_Silent_p.R271R|PRKCSH_ENST00000589838.1_Silent_p.R271R|PRKCSH_ENST00000587327.1_Silent_p.R271R|PRKCSH_ENST00000591462.1_Silent_p.R271R|PRKCSH_ENST00000592741.1_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)	72	282					0	0	1	0	0	T	11557939	C	T	11557939	2	4	22	1	0	0	0	0	0	0	0	1	12568	755	27	1		1	PRKCSH	19	11557939	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23248	11557939	47571044	18040	20186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000412601.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000589838.1_Missense_Mutation_p.R482C|PRKCSH_ENST00000587327.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000591462.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000592741.1_Missense_Mutation_p.R489C	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													78	405					0	0	1	0	0	T	11560084	C	T	11560084	3	4	22	1	0	0	0	0	1	0	0	0	12568	768	27	1	1527	1	PRKCSH	19	11560084	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2145	11560084	47568899	18041	20187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	370					0	0	1	0	0	A	11568960	G	A	11568960	3	1	22	1	0	0	0	0	1	0	0	0	5079	1145	40	1	486	1	ELAVL3	19	11568960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8876	11568960	47560023	18042	20188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591674.1_Splice_Site|ELOF1_ENST00000591912.1_3'UTR|ELOF1_ENST00000586683.1_Intron|ELOF1_ENST00000587806.1_Splice_Site|ELOF1_ENST00000590700.1_Splice_Site|ELOF1_ENST00000586120.1_Splice_Site|ELOF1_ENST00000252445.3_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													82	317					4.64247e-43	5.66271e-43	1	1	0	A	11664626	C	A	11664626	3	1	22	1	0	0	0	0	1	0	0	0	5100	927	32	2	68	2	ELOF1	19	11664626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95666	11664626	47464357	18043	20189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433365.2_Missense_Mutation_p.V256M|ACP5_ENST00000218758.5_Missense_Mutation_p.V256M|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000412435.2_Missense_Mutation_p.V256M|ZNF627_ENST00000588651.1_Intron	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													54	250					0	0	1	0	0	T	11686037	C	T	11686037	3	4	22	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	18044	20190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	568					2.16659e-41	2.63151e-41	1	1	0	T	11727652	G	T	11727652	3	4	22	1	0	0	0	0	1	0	0	0	18108	1232	43	2	348	2	ZNF627	19	11727652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41615	11727652	47401331	18045	20191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	236					0	0	1	0	0	A	11727882	G	A	11727882	2	1	22	1	0	0	0	0	0	0	0	1	18108	1074	38	1		1	ZNF627	19	11727882	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230	11727882	47401101	18046	20192											
ZNF823	55552	broad.mit.edu	37	chr19	11832603	11832603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacattccttacattcataCagcttctctccagtgtgagt	5	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11832603C>T	ENST00000341191.6	-	4	1899	c.1746G>A	c.(1744-1746)ctG>ctA	p.L582L	ZNF823_ENST00000545749.1_Silent_p.L400L	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	582					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						TACATTCATACAGCTTCTCTC	0.418										HNSCC(68;0.2)			83	328					0	0	1	0	0	T	11832603	C	T	11832603	2	4	22	1	0	0	0	0	0	0	0	1	18226	465	17	2		2	ZNF823	19	11832603	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104721	11832603	47296380	18047	20193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	178					0	0	1	0	0	A	11892674	G	A	11892674	3	1	22	1	0	0	0	0	1	0	0	0	17971	971	34	2	2049	2	ZNF441	19	11892674	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60071	11892674	47236309	18048	20194											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	172					0	0	1	0	0	A	11917376	G	A	11917376	3	1	22	1	0	0	0	0	1	0	0	0	17999	1087	38	1	610	1	ZNF491	19	11917376	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24702	11917376	47211607	18049	20195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													156	697					0	0	1	0	0	G	11942469	A	G	11942469	3	3	22	1	0	0	0	0	1	0	0	0	17970	412	15	3	492	3	ZNF440	19	11942469	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25093	11942469	47186514	18050	20196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Silent_p.S262S			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													36	207					0	0	1	0	0	C	12059625	T	C	12059625	2	2	22	1	0	0	0	0	0	0	0	1	18160	1567	55	3		3	ZNF700	19	12059625	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	117156	12059625	47069358	18051	20197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.G437S			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													9	421					0	0	1	0	0	A	12060148	G	A	12060148	3	1	22	1	0	0	0	0	1	0	0	0	18160	1116	39	1	1323	1	ZNF700	19	12060148	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	523	12060148	47068835	18052	20198											
ZNF763	284390	broad.mit.edu	37	chr19	12089241	12089241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaagaaaggaatcacaccGgagagaaaccctatgcttgt	9	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12089241G>A	ENST00000343949.5	+	4	666	c.511G>A	c.(511-513)Gga>Aga	p.G171R	ZNF763_ENST00000538752.1_Missense_Mutation_p.G188R|ZNF763_ENST00000358987.3_Missense_Mutation_p.G168R|ZNF763_ENST00000590798.1_Missense_Mutation_p.G188R|ZNF763_ENST00000545530.1_Missense_Mutation_p.G46R	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						GAATCACACCGGAGAGAAACC	0.428													143	592					0	0	1	0	0	A	12089241	G	A	12089241	3	1	22	1	0	0	0	0	1	0	0	0	18187	1117	39	1	525	1	ZNF763	19	12089241	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29093	12089241	47039742	18053	20199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.D671Y			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													13	44					0.00010058	0.000102273	1	1	0	A	12125671	C	A	12125671	3	1	22	1	0	0	0	0	1	0	0	0	17964	913	32	2	14	2	ZNF433	19	12125671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36430	12125671	47003312	18054	20200											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000344980.6_Nonsense_Mutation_p.R634*			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													63	283					0	0	1	0	0	A	12125782	G	A	12125782	4	1	22	1	0	0	0	0	0	1	0	0	17964	1066	37	1	125	1	ZNF433	19	12125782	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	12125782	47003201	18055	20201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.A519V|CTD-2006C1.2_ENST00000476474.1_RNA			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													16	185					0	0	1	0	0	A	12154660	G	A	12154660	3	1	22	1	0	0	0	0	1	0	0	0	18239	1203	42	2	43	2	ZNF878	19	12154660	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28878	12154660	46974323	18056	20202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S185Y|CTD-2006C1.2_ENST00000476474.1_RNA			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													164	833					4.48024e-70	5.69e-70	1	1	0	T	12155662	G	T	12155662	3	4	22	1	0	0	0	0	1	0	0	0	18239	942	33	2	1045	2	ZNF878	19	12155662	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1002	12155662	46973321	18057	20203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542938.1_Missense_Mutation_p.H251R|ZNF625_ENST00000439556.2_Missense_Mutation_p.H317R|ZNF625_ENST00000455799.1_3'UTR|ZNF625-ZNF20_ENST00000430024.1_Intron			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													108	512					0	0	1	0	0	C	12256281	T	C	12256281	3	2	22	1	0	0	0	0	1	0	0	0	18106	1696	59	3	172	3	ZNF625	19	12256281	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	100619	12256281	46872702	18058	20204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	234					9.55421e-19	1.06232e-18	1	1	0	A	12298401	C	A	12298401	3	1	22	1	0	0	0	0	1	0	0	0	17784	913	32	2	1222	2	ZNF136	19	12298401	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42120	12298401	46830582	18059	20205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	171					0	0	1	0	0	T	12298499	C	T	12298499	4	4	22	1	0	0	0	0	0	1	0	0	17784	876	31	1	1320	1	ZNF136	19	12298499	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98	12298499	46830484	18060	20206											
ZNF563	147837	broad.mit.edu	37	chr19	12429836	12429836	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatcttacatttatgaggtcGatctccagtgtgccttttca	7	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12429836G>A	ENST00000293725.5	-	4	1208	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTATGAGGTCGATCTCCAGTG	0.418													154	743					0	0	1	0	0	A	12429836	G	A	12429836	4	1	22	1	0	0	0	0	0	1	0	0	18051	1066	37	1	431	1	ZNF563	19	12429836	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131337	12429836	46699147	18061	20207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.R57I|ZNF799_ENST00000595766.1_3'UTR			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													8	287					3.09899e-07	3.21319e-07	1	1	0	A	12503438	C	A	12503438	3	1	22	1	0	0	0	0	1	0	0	0	18215	913	32	2	1769	2	ZNF799	19	12503438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73602	12503438	46625545	18062	20208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_005806.2	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													101	420					0	0	1	0	0	C	12541219	T	C	12541219	2	2	22	1	0	0	0	0	0	0	0	1	17973	1490	52	3		3	ZNF443	19	12541219	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37781	12541219	46587764	18063	20209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_005806.2	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													17	477					0	0	1	0	0	T	12541361	C	T	12541361	3	4	22	1	0	0	0	0	1	0	0	0	17973	507	18	2	394	2	ZNF443	19	12541361	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142	12541361	46587622	18064	20210											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_005806.2	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													168	700					0	0	1	0	0	G	12542335	T	G	12542335	3	3	22	1	0	0	0	0	1	0	0	0	17973	1780	62	3	1368	3	ZNF443	19	12542335	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	974	12542335	46586648	18065	20211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_005806.2	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													18	154					0	0	1	0	0	G	12543223	T	G	12543223	3	3	22	1	0	0	0	0	1	0	0	0	17973	1606	56	3	1864	3	ZNF443	19	12543223	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	888	12543223	46585760	18066	20212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF709_ENST00000428311.1_Missense_Mutation_p.Y336C|CTD-3105H18.18_ENST00000598753.1_Intron	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													29	401					0	0	1	0	0	C	12575729	T	C	12575729	3	2	22	1	0	0	0	0	1	0	0	0	18169	1406	49	3	922	3	ZNF709	19	12575729	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32506	12575729	46553254	18067	20213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF709_ENST00000428311.1_Missense_Mutation_p.E75A|CTD-3105H18.18_ENST00000598753.1_Intron	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													42	145					0	0	1	0	0	G	12576512	T	G	12576512	3	3	22	1	0	0	0	0	1	0	0	0	18169	1783	62	3	1705	3	ZNF709	19	12576512	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	783	12576512	46552471	18068	20214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	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													77	319					1.76847e-28	2.05822e-28	1	1	0	A	12638554	C	A	12638554	3	1	22	1	0	0	0	0	1	0	0	0	18052	913	32	2	1297	2	ZNF564	19	12638554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62042	12638554	46490429	18069	20215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	357					1.92445e-52	2.39376e-52	1	1	0	A	12692016	C	A	12692016	3	1	22	1	0	0	0	0	1	0	0	0	17998	796	28	2	720	2	ZNF490	19	12692016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53462	12692016	46436967	18070	20216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	561					0	0	1	0	0	A	12694290	G	A	12694290	2	1	22	1	0	0	0	0	0	0	0	1	17998	932	33	2		2	ZNF490	19	12694290	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2274	12694290	46434693	18071	20217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_5'UTR|ZNF791_ENST00000458122.3_Missense_Mutation_p.T62I	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													161	683					0	0	1	0	0	T	12738624	C	T	12738624	3	4	22	1	0	0	0	0	1	0	0	0	18212	565	20	2	295	2	ZNF791	19	12738624	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44334	12738624	46390359	18072	20218											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.I122F|ZNF791_ENST00000458122.3_Missense_Mutation_p.I199F	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													65	253					0	0	1	0	0	T	12739034	A	T	12739034	3	4	22	1	0	0	0	0	1	0	0	0	18212	449	16	5	705	5	ZNF791	19	12739034	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	410	12739034	46389949	18073	20219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	221					0	0	1	0	0	T	12759192	C	T	12759192	3	4	22	1	0	0	0	0	1	0	0	0	9266	884	31	1	590	1	MAN2B1	19	12759192	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20158	12759192	46369791	18074	20220											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	322					0	0	1	0	0	T	12784068	C	T	12784068	3	4	22	1	0	0	0	0	1	0	0	0	17392	768	27	1	766	1	WDR83	19	12784068	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24876	12784068	46344915	18075	20221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000351660.5_Nonsense_Mutation_p.E218*|DHPS_ENST00000594424.1_Nonsense_Mutation_p.E176*	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													224	976					5.46055e-65	6.90299e-65	1	1	0	A	12790297	C	A	12790297	4	1	22	1	0	0	0	0	0	1	0	0	4513	922	32	2	477	2	DHPS	19	12790297	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6229	12790297	46338686	18076	20222											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544494.1_Intron|FBXW9_ENST00000587955.1_Missense_Mutation_p.I311N|FBXW9_ENST00000393261.3_Intron			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													64	261					0	0	1	0	0	T	12800936	A	T	12800936	3	4	22	1	0	0	0	0	1	0	0	0	5804	348	12	5		5	FBXW9	19	12800936	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10639	12800936	46328047	18077	20223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000450764.2_Silent_p.Y777Y|TNPO2_ENST00000356861.5_Silent_p.Y777Y|TNPO2_ENST00000441499.1_Silent_p.Y777Y|TNPO2_ENST00000588216.1_Silent_p.Y777Y|TNPO2_ENST00000592287.1_Silent_p.Y787Y			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													42	173					0	0	1	0	0	A	12812936	G	A	12812936	2	1	22	1	0	0	0	0	0	0	0	1	16396	1140	40	1		1	TNPO2	19	12812936	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12000	12812936	46316047	18078	20224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	305					0	0	1	0	0	T	12842217	C	T	12842217	3	4	22	1	0	0	0	0	1	0	0	0	1938	652	23	1	174	1	C19orf43	19	12842217	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29281	12842217	46286766	18079	20225											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	304					0	0	1	0	0	T	12863439	C	T	12863439	2	4	22	1	0	0	0	0	0	0	0	1	1403	535	19	1		1	BEST2	19	12863439	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21222	12863439	46265544	18080	20226											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	388					2.62214e-60	3.29741e-60	1	1	0	A	12874525	C	A	12874525	3	1	22	1	0	0	0	0	1	0	0	0	7324	681	24	2	276	2	HOOK2	19	12874525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11086	12874525	46254458	18081	20227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	1312					1.11149e-13	1.20163e-13	1	1	0	A	12878833	C	A	12878833	3	1	22	1	0	0	0	0	1	0	0	0	7324	912	32	2	998	2	HOOK2	19	12878833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4308	12878833	46250150	18082	20228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	135					0	0	1	0	0	C	12881839	T	C	12881839	3	2	22	1	0	0	0	0	1	0	0	0	7324	1551	54	3	1406	3	HOOK2	19	12881839	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3006	12881839	46247144	18083	20229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	34					0	0	1	0	0	T	12903500	C	T	12903500	2	4	22	1	0	0	0	0	0	0	0	1	8014	639	23	1		1	JUNB	19	12903500	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21661	12903500	46225483	18084	20230											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PRDX2_ENST00000334482.5_Intron|CTD-2659N19.10_ENST00000585496.1_RNA	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													9	373					0	0	1	0	0	A	12910731	G	A	12910731	2	1	22	1	0	0	0	0	0	0	0	1	12517	1103	39	1		1	PRDX2	19	12910731	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7231	12910731	46218252	18085	20231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	304					1.836e-18	2.03801e-18	1	1	0	T	12924273	G	T	12924273	3	4	22	1	0	0	0	0	1	0	0	0	13464	971	34	2	923	2	RNASEH2A	19	12924273	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13542	12924273	46204710	18086	20232											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	38	280					4.32679e-17	4.76816e-17	1	1	0	T	12958425	G	T	12958425	5	4	22	1	0	0	0	0	0	0	1	0	9374	985	34	2	510	2	MAST1	19	12958425	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34152	12958425	46170558	18087	20233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	271					0	0	1	0	0	T	12963203	C	T	12963203	2	4	22	1	0	0	0	0	0	0	0	1	9374	900	32	2		2	MAST1	19	12963203	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4778	12963203	46165780	18088	20234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	267					0	0	1	0	0	T	12976850	C	T	12976850	2	4	22	1	0	0	0	0	0	0	0	1	9374	796	28	2		2	MAST1	19	12976850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13647	12976850	46152133	18089	20235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	150					0	0	1	0	0	T	12977513	C	T	12977513	2	4	22	1	0	0	0	0	0	0	0	1	9374	477	17	2		2	MAST1	19	12977513	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	663	12977513	46151470	18090	20236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591470.1_Missense_Mutation_p.S139L|GCDH_ENST00000422947.2_Missense_Mutation_p.S95L			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													49	414					0	0	1	0	0	T	13004378	C	T	13004378	3	4	22	1	0	0	0	0	1	0	0	0	6327	893	31	1	434	1	GCDH	19	13004378	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26865	13004378	46124605	18091	20237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591470.1_Missense_Mutation_p.S368Y|GCDH_ENST00000422947.2_Missense_Mutation_p.S324Y			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													225	951					4.5173e-83	5.78256e-83	1	1	0	A	13008537	C	A	13008537	3	1	22	1	0	0	0	0	1	0	0	0	6327	913	32	2	1141	2	GCDH	19	13008537	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4159	13008537	46120446	18092	20238											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	696					1.1804e-14	1.28451e-14	1	1	0	A	13015452	C	A	13015452	3	1	22	1	0	0	0	0	1	0	0	0	15486	681	24	2	512	2	SYCE2	19	13015452	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6915	13015452	46113531	18093	20239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	253					0	0	1	0	0	T	13054419	C	T	13054419	2	4	22	1	0	0	0	0	0	0	0	1	2610	697	25	2		2	CALR	19	13054419	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38967	13054419	46074564	18094	20240											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000592268.1_Missense_Mutation_p.A183T|RAD23A_ENST00000316856.3_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)					189	827					0	0	1	0	0	A	13059574	G	A	13059574	3	1	22	1	0	0	0	0	1	0	0	0	13034	1087	38	1	565	1	RAD23A	19	13059574	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5155	13059574	46069409	18095	20241											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000592199.1_Missense_Mutation_p.A366S|NFIX_ENST00000585575.1_Missense_Mutation_p.A358S|NFIX_ENST00000587760.1_Missense_Mutation_p.A358S|NFIX_ENST00000360105.4_Missense_Mutation_p.A328S|NFIX_ENST00000588228.1_Missense_Mutation_p.A319S			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													40	210					1.07121e-22	1.21384e-22	1	1	0	T	13192511	G	T	13192511	3	4	22	1	0	0	0	0	1	0	0	0	10421	971	34	2	1126	2	NFIX	19	13192511	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132937	13192511	45936472	18096	20242											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	188					0	0	1	0	0	A	13246051	G	A	13246051	2	1	22	1	0	0	0	0	0	0	0	1	10183	1045	37	1		1	NACC1	19	13246051	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53540	13246051	45882932	18097	20243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	271					3.31162e-33	3.92088e-33	1	1	0	T	13246249	G	T	13246249	3	4	22	1	0	0	0	0	1	0	0	0	10183	1020	36	2	230	2	NACC1	19	13246249	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	198	13246249	45882734	18098	20244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	192					0	0	1	0	0	T	13246954	C	T	13246954	2	4	22	1	0	0	0	0	0	0	0	1	10183	535	19	1		1	NACC1	19	13246954	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	705	13246954	45882029	18099	20245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343587.5_Silent_p.I100I|STX10_ENST00000242770.5_Silent_p.I149I|STX10_ENST00000587230.1_Silent_p.I149I	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													37	153					0	0	1	0	0	A	13256126	G	A	13256126	2	1	22	1	0	0	0	0	0	0	0	1	15392	1048	37	1		1	STX10	19	13256126	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9172	13256126	45872857	18100	20246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	116					1.00905e-13	1.09121e-13	1	1	0	T	13325114	G	T	13325114	3	4	22	1	0	0	0	0	1	0	0	0	2556	1203	42	2	1679	2	CACNA1A	19	13325114	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68988	13325114	45803869	18101	20247											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000573710.2_Silent_p.D1723D|CACNA1A_ENST00000574822.1_5'UTR	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)	123	514					0	0	1	0	0	A	13345818	G	A	13345818	2	1	22	1	0	0	0	0	0	0	0	1	2556	1136	40	1		1	CACNA1A	19	13345818	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20704	13345818	45783165	18102	20248											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000573710.2_Silent_p.R1627R|CACNA1A_ENST00000574822.1_5'UTR	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													39	235					0	0	1	0	0	A	13356068	G	A	13356068	2	1	22	1	0	0	0	0	0	0	0	1	2556	1074	38	1		1	CACNA1A	19	13356068	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10250	13356068	45772915	18103	20249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	49					0	0	1	0	0	G	13370400	A	G	13370400	3	3	22	1	0	0	0	0	1	0	0	0	2556	275	10	3	3340	3	CACNA1A	19	13370400	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14332	13370400	45758583	18104	20250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	312					0	0	1	0	0	C	13410018	T	C	13410018	3	2	22	1	0	0	0	0	1	0	0	0	2556	1696	59	3	5309	3	CACNA1A	19	13410018	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39618	13410018	45718965	18105	20251											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	109					0	0	1	0	0	C	13419063	T	C	13419063	3	2	22	1	0	0	0	0	1	0	0	0	2556	1638	57	3	5983	3	CACNA1A	19	13419063	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9045	13419063	45709920	18106	20252											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	92					0	0	1	0	0	A	13428040	G	A	13428040	3	1	22	1	0	0	0	0	1	0	0	0	2556	1116	39	1	6338	1	CACNA1A	19	13428040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8977	13428040	45700943	18107	20253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Missense_Mutation_p.T143M			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													25	138					0	0	1	0	0	T	13869941	C	T	13869941	3	4	22	1	0	0	0	0	1	0	0	0	2784	536	19	1	454	1	CCDC130	19	13869941	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	441901	13869941	45259042	18108	20254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	359					0	0	1	0	0	G	13936465	A	G	13936465	3	3	22	1	0	0	0	0	1	0	0	0	18283	159	6	3	2008	3	ZSWIM4	19	13936465	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	66524	13936465	45192518	18109	20255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	447					0	0	1	0	0	T	13941765	C	T	13941765	2	4	22	1	0	0	0	0	0	0	0	1	18283	639	23	1		1	ZSWIM4	19	13941765	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5300	13941765	45187218	18110	20256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591161.1_Intron|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													51	273					0	0	1	0	0	T	13988311	C	T	13988311	2	4	22	1	0	0	0	0	0	0	0	1	10201	535	19	1		1	NANOS3	19	13988311	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46546	13988311	45140672	18111	20257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346736.2_Missense_Mutation_p.R381M|C19orf57_ENST00000586783.1_Missense_Mutation_p.R381M|C19orf57_ENST00000591586.1_Intron			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													39	208					3.33393e-15	3.63836e-15	1	1	0	A	14000527	C	A	14000527	3	1	22	1	0	0	0	0	1	0	0	0	1951	681	24	2	783	2	C19orf57	19	14000527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12216	14000527	45128456	18112	20258											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	187					0	0	1	0	0	G	14067054	A	G	14067054	3	3	22	1	0	0	0	0	1	0	0	0	4291	333	12	3	611	3	DCAF15	19	14067054	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	66527	14067054	45061929	18113	20259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	416					0	0	1	0	0	A	14069989	G	A	14069989	3	1	22	1	0	0	0	0	1	0	0	0	4291	1145	40	1	943	1	DCAF15	19	14069989	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2935	14069989	45058994	18114	20260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	84	401					0	0	1	0	0	G	14071137	A	G	14071137	3	3	22	1	0	0	0	0	1	0	0	0	4291	275	10	3	1607	3	DCAF15	19	14071137	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1148	14071137	45057846	18115	20261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	230					8.86878e-18	9.80954e-18	1	1	0	T	14080831	G	T	14080831	3	4	22	1	0	0	0	0	1	0	0	0	13314	991	35	2	1516	2	RFX1	19	14080831	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9694	14080831	45048152	18116	20262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	328					0	0	1	0	0	A	14080949	G	A	14080949	2	1	22	1	0	0	0	0	0	0	0	1	13314	1074	38	1		1	RFX1	19	14080949	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118	14080949	45048034	18117	20263											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_612361.1	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													8	68					0	0	1	0	0	A	14200027	G	A	14200027	3	1	22	1	0	0	0	0	1	0	0	0	13866	1086	38	1	529	1	SAMD1	19	14200027	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119078	14200027	44928956	18118	20264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	217					0	0	1	0	0	G	14231410	A	G	14231410	3	3	22	1	0	0	0	0	1	0	0	0	1037	217	8	3	142	3	ASF1B	19	14231410	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31383	14231410	44897573	18119	20265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	LPHN1_ENST00000361434.3_Silent_p.C1093C|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|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													151	680					0	0	1	0	0	A	14266186	G	A	14266186	2	1	22	1	0	0	0	0	0	0	0	1	8960	1079	38	1		1	LPHN1	19	14266186	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34776	14266186	44862797	18120	20266											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	LPHN1_ENST00000361434.3_Silent_p.V941V|CTB-55O6.12_ENST00000592086.1_RNA|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													44	181					0	0	1	0	0	T	14267880	C	T	14267880	2	4	22	1	0	0	0	0	0	0	0	1	8960	697	25	2		2	LPHN1	19	14267880	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1694	14267880	44861103	18121	20267											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	LPHN1_ENST00000591528.1_5'UTR|LPHN1_ENST00000361434.3_Missense_Mutation_p.N221T|CTB-55O6.12_ENST00000592086.1_RNA|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													77	310					0	0	1	0	0	G	14273951	T	G	14273951	3	3	22	1	0	0	0	0	1	0	0	0	8960	1725	60	3	3823	3	LPHN1	19	14273951	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6071	14273951	44855032	18122	20268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	364					0	0	1	0	0	A	14501839	G	A	14501839	2	1	22	1	0	0	0	0	0	0	0	1	3071	962	34	2		2	CD97	19	14501839	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227888	14501839	44627144	18123	20269											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CD97_ENST00000357355.3_Silent_p.T665T|CD97_ENST00000358600.3_Silent_p.T621T|CTC-548K16.5_ENST00000590626.1_RNA	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)	56	1735					0	0	1	0	0	T	14517707	C	T	14517707	2	4	22	1	0	0	0	0	0	0	0	1	3071	639	23	1		1	CD97	19	14517707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15868	14517707	44611276	18124	20270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CD97_ENST00000357355.3_Silent_p.A688A|CD97_ENST00000358600.3_Silent_p.A644A|CTC-548K16.5_ENST00000590626.1_RNA	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													34	408					0	0	1	0	0	A	14517876	G	A	14517876	2	1	22	1	0	0	0	0	0	0	0	1	3071	1074	38	1		1	CD97	19	14517876	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169	14517876	44611107	18125	20271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000342216.4_Missense_Mutation_p.A128V|PKN1_ENST00000587429.1_3'UTR	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													16	71					0	0	1	0	0	T	14554324	C	T	14554324	3	4	22	1	0	0	0	0	1	0	0	0	12027	739	26	2	418	2	PKN1	19	14554324	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36448	14554324	44574659	18126	20272											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													206	901					0	0	1	0	0	A	14568859	G	A	14568859	2	1	22	1	0	0	0	0	0	0	0	1	12027	1306	46	2		2	PKN1	19	14568859	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14535	14568859	44560124	18127	20273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	195					0	0	1	0	0	T	14578761	C	T	14578761	3	4	22	1	0	0	0	0	1	0	0	0	12027	739	26	2	2059	2	PKN1	19	14578761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9902	14578761	44550222	18128	20274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393029.3_Intron|GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000586027.1_Silent_p.A87A|GIPC1_ENST00000345425.2_Silent_p.A87A|GIPC1_ENST00000591349.1_Intron	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													30	116					0	0	1	0	0	A	14593528	G	A	14593528	2	1	22	1	0	0	0	0	0	0	0	1	6434	1103	39	1		1	GIPC1	19	14593528	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14767	14593528	44535455	18129	20275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	397					7.62712e-44	9.32224e-44	1	1	0	A	14626848	C	A	14626848	3	1	22	1	0	0	0	0	1	0	0	0	4642	912	32	2	99	2	DNAJB1	19	14626848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33320	14626848	44502135	18130	20276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436007.2_Missense_Mutation_p.R302H|TECR_ENST00000596073.1_Missense_Mutation_p.R132H|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													16	72					0	0	1	0	0	A	14676616	G	A	14676616	3	1	22	1	0	0	0	0	1	0	0	0	15804	1087	38	1	910	1	TECR	19	14676616	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49768	14676616	44452367	18131	20277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436007.2_Silent_p.P312P|TECR_ENST00000596073.1_Silent_p.P142P|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													7	80					0	0	1	0	0	A	14676647	G	A	14676647	2	1	22	1	0	0	0	0	0	0	0	1	15804	1074	38	1		1	TECR	19	14676647	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31	14676647	44452336	18132	20278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344373.4_Missense_Mutation_p.L470V|EMR3_ENST00000599900.1_Missense_Mutation_p.L307V|EMR3_ENST00000443157.2_Missense_Mutation_p.L396V	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													36	144					0	0	1	0	0	C	14743812	A	C	14743812	3	2	22	1	0	0	0	0	1	0	0	0	5134	98	4	3	410	3	EMR3	19	14743812	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67165	14743812	44385171	18133	20279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540689.2_Nonsense_Mutation_p.E65*|ZNF333_ENST00000601134.1_Intron|ZNF333_ENST00000536363.1_5'UTR|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													33	167					1.62565e-12	1.74646e-12	1	1	0	T	14806443	G	T	14806443	4	4	22	1	0	0	0	0	0	1	0	0	17907	943	33	2	203	2	ZNF333	19	14806443	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62631	14806443	44322540	18134	20280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000353876.1_Silent_p.I471I|EMR2_ENST00000594294.1_Silent_p.I515I|EMR2_ENST00000596991.2_Silent_p.I553I|EMR2_ENST00000601345.1_Silent_p.I553I|EMR2_ENST00000595839.1_Silent_p.I422I|EMR2_ENST00000346057.1_Silent_p.I515I|EMR2_ENST00000392967.2_Silent_p.I553I|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000594076.1_Silent_p.I471I|EMR2_ENST00000392965.3_Silent_p.I506I|EMR2_ENST00000353005.1_Silent_p.I422I	NM_013447.2	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													51	321					2.74695e-27	3.17909e-27	1	1	0	T	14863237	G	T	14863237	2	4	22	1	0	0	0	0	0	0	0	1	5133	1164	41	2		2	EMR2	19	14863237	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56794	14863237	44265746	18135	20281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000353876.1_Intron|EMR2_ENST00000594294.1_Missense_Mutation_p.L129I|EMR2_ENST00000596991.2_Missense_Mutation_p.L129I|EMR2_ENST00000601345.1_Missense_Mutation_p.L129I|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000346057.1_Missense_Mutation_p.L129I|EMR2_ENST00000392967.2_Missense_Mutation_p.L129I|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000392965.3_Missense_Mutation_p.L129I|EMR2_ENST00000353005.1_Intron	NM_013447.2	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													21	572					7.45023e-12	7.97024e-12	1	1	0	T	14877892	G	T	14877892	3	4	22	1	0	0	0	0	1	0	0	0	5133	971	34	2	2150	2	EMR2	19	14877892	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14655	14877892	44251091	18136	20282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	502					0	0	1	0	0	T	15063766	C	T	15063766	2	4	22	1	0	0	0	0	0	0	0	1	14491	755	27	1		1	SLC1A6	19	15063766	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	185874	15063766	44065217	18137	20283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	578					0	0	1	0	0	A	15063833	G	A	15063833	3	1	22	1	0	0	0	0	1	0	0	0	14491	1232	43	2	296	2	SLC1A6	19	15063833	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	15063833	44065150	18138	20284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	353					0	0	1	0	0	A	15065121	G	A	15065121	3	1	22	1	0	0	0	0	1	0	0	0	14491	1261	44	2	516	2	SLC1A6	19	15065121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1288	15065121	44063862	18139	20285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	28					0	0	1	0	0	T	15221544	C	T	15221544	3	4	22	1	0	0	0	0	1	0	0	0	15492	759	27	1	1302	1	SYDE1	19	15221544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	156423	15221544	43907439	18140	20286											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	367					2.36429e-26	2.72346e-26	1	1	0	A	15226130	C	A	15226130	3	1	22	1	0	0	0	0	1	0	0	0	7759	739	26	2	70	2	ILVBL	19	15226130	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4586	15226130	43902853	18141	20287											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	213					0	0	1	0	0	T	15233511	C	T	15233511	3	4	22	1	0	0	0	0	1	0	0	0	7759	507	18	2	1233	2	ILVBL	19	15233511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7381	15233511	43895472	18142	20288											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	53					0	0	1	0	0	T	15271773	C	T	15271773	2	4	22	1	0	0	0	0	0	0	0	1	10597	639	23	1		1	NOTCH3	19	15271773	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38262	15271773	43857210	18143	20289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	160					0	0	1	0	0	T	15276713	C	T	15276713	3	4	22	1	0	0	0	0	1	0	0	0	10597	536	19	1	1429	1	NOTCH3	19	15276713	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4940	15276713	43852270	18144	20290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	201					0	0	1	0	0	T	15284889	C	T	15284889	3	4	22	1	0	0	0	0	1	0	0	0	10597	893	31	1	2275	1	NOTCH3	19	15284889	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8176	15284889	43844094	18145	20291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	44					0	0	1	0	0	T	15291787	C	T	15291787	2	4	22	1	0	0	0	0	0	0	0	1	10597	639	23	1		1	NOTCH3	19	15291787	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6898	15291787	43837196	18146	20292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	205					1.21669e-08	1.27369e-08	1	1	0	A	15295262	C	A	15295262	5	1	22	1	0	0	0	0	0	0	1	0	10597	695	24	2	4627	2	NOTCH3	19	15295262	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3475	15295262	43833721	18147	20293											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	211					9.77569e-14	1.05744e-13	1	1	0	A	15296115	C	A	15296115	3	1	22	1	0	0	0	0	1	0	0	0	10597	797	28	2	4796	2	NOTCH3	19	15296115	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	853	15296115	43832868	18148	20294											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	142					4.14922e-12	4.44601e-12	1	1	0	A	15296201	C	A	15296201	3	1	22	1	0	0	0	0	1	0	0	0	10597	796	28	2	4882	2	NOTCH3	19	15296201	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86	15296201	43832782	18149	20295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	220					0	0	1	0	0	T	15299878	C	T	15299878	3	4	22	1	0	0	0	0	1	0	0	0	10597	893	31	1	5769	1	NOTCH3	19	15299878	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3677	15299878	43829105	18150	20296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	324					0	0	1	0	0	A	15342604	G	A	15342604	2	1	22	1	0	0	0	0	0	0	0	1	5209	1136	40	1		1	EPHX3	19	15342604	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42726	15342604	43786379	18151	20297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	351					0	0	1	0	0	T	15342655	C	T	15342655	2	4	22	1	0	0	0	0	0	0	0	1	5209	697	25	2		2	EPHX3	19	15342655	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51	15342655	43786328	18152	20298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								13	163					0	0	1	0	0	A	15349989	G	A	15349989	2	1	22	1	0	0	0	0	0	0	0	1	1506	1078	38	1		1	BRD4	19	15349989	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7334	15349989	43778994	18153	20299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371835.4_Silent_p.S717S|BRD4_ENST00000360016.5_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								19	199					0	0	1	0	0	A	15364970	G	A	15364970	2	1	22	1	0	0	0	0	0	0	0	1	1506	1103	39	1		1	BRD4	19	15364970	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14981	15364970	43764013	18154	20300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371835.4_Missense_Mutation_p.G691S|BRD4_ENST00000360016.5_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								49	187					0	0	1	0	0	T	15365050	C	T	15365050	3	4	22	1	0	0	0	0	1	0	0	0	1506	652	23	1	2072	1	BRD4	19	15365050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	15365050	43763933	18155	20301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371835.4_Silent_p.S662S|BRD4_ENST00000360016.5_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								20	363					0	0	1	0	0	A	15366169	G	A	15366169	2	1	22	1	0	0	0	0	0	0	0	1	1506	1335	47	2		2	BRD4	19	15366169	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1119	15366169	43762814	18156	20302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371835.4_Missense_Mutation_p.P327L|BRD4_ENST00000360016.5_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)	21	505					0	0	1	0	0	A	15375447	G	A	15375447	3	1	22	1	0	0	0	0	1	0	0	0	1506	1000	35	2	3183	2	BRD4	19	15375447	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9278	15375447	43753536	18157	20303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371835.4_Missense_Mutation_p.R10I|BRD4_ENST00000360016.5_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								75	612					2.25582e-47	2.77644e-47	1	1	0	A	15383882	C	A	15383882	3	1	22	1	0	0	0	0	1	0	0	0	1506	913	32	2	4150	2	BRD4	19	15383882	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8435	15383882	43745101	18158	20304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	233					0	0	1	0	0	A	15484043	G	A	15484043	2	1	22	1	0	0	0	0	0	0	0	1	454	1103	39	1		1	AKAP8	19	15484043	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100161	15484043	43644940	18159	20305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15508540C>T	ENST00000397410.4	-	10	1348	c.1284G>A	c.(1282-1284)acG>acA	p.T428T	AKAP8L_ENST00000595465.1_Silent_p.T367T	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	428						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													29	364					0	0	1	0	0	T	15508540	C	T	15508540	2	4	22	1	0	0	0	0	0	0	0	1	455	639	23	1		1	AKAP8L	19	15508540	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24497	15508540	43620443	18160	20306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15511996G>A	ENST00000397410.4	-	5	845	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	AKAP8L_ENST00000595136.1_5'UTR|AKAP8L_ENST00000595465.1_Missense_Mutation_p.R200W	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	261						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													270	1040					0	0	1	0	0	A	15511996	G	A	15511996	3	1	22	1	0	0	0	0	1	0	0	0	455	1086	38	1	1199	1	AKAP8L	19	15511996	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3456	15511996	43616987	18161	20307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545156.1_Missense_Mutation_p.E714D|WIZ_ENST00000263381.6_Missense_Mutation_p.E543D|WIZ_ENST00000599686.2_Missense_Mutation_p.E584D|WIZ_ENST00000599910.1_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													10	48					7.48243e-07	7.73841e-07	1	1	0	A	15535824	C	A	15535824	3	1	22	1	0	0	0	0	1	0	0	0	17435	796	28	2	767	2	WIZ	19	15535824	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23828	15535824	43593159	18162	20308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000263381.6_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													103	461					0	0	1	0	0	A	15558986	G	A	15558986	3	1	22	1	0	0	0	0	1	0	0	0	17435	1115	39	1	2279	1	WIZ	19	15558986	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23162	15558986	43569997	18163	20309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	82					0	0	1	0	0	G	15580712	A	G	15580712	3	3	22	1	0	0	0	0	1	0	0	0	11842	391	14	3	366	3	PGLYRP2	19	15580712	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21726	15580712	43548271	18164	20310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	436					2.1089e-46	2.5903e-46	1	1	0	A	15728970	C	A	15728970	1	1	22	0	1	0	0	0	0	0	0	0	4214	812	28	2		2	CYP4F8	19	15728970	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148258	15728970	43400013	18165	20311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	159					0	0	1	0	0	T	15733064	C	T	15733064	1	4	22	0	1	0	0	0	0	0	0	0	4214	668	24	2		2	CYP4F8	19	15733064	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4094	15733064	43395919	18166	20312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000324632.9_Missense_Mutation_p.R146H	NM_023944.3	NP_076433.3			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													11	272					0	0	1	0	0	A	15791241	G	A	15791241	3	1	22	1	0	0	0	0	1	0	0	0	4210	1087	38	1	451	1	CYP4F12	19	15791241	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58177	15791241	43337742	18167	20313											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000324632.9_Silent_p.T165T	NM_023944.3	NP_076433.3			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													51	272					0	0	1	0	0	A	15791299	G	A	15791299	2	1	22	1	0	0	0	0	0	0	0	1	4210	1045	37	1		1	CYP4F12	19	15791299	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58	15791299	43337684	18168	20314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000324632.9_Missense_Mutation_p.L240I	NM_023944.3	NP_076433.3			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													125	512					9.11594e-60	1.14538e-59	1	1	0	A	15794373	C	A	15794373	3	1	22	1	0	0	0	0	1	0	0	0	4210	681	24	2	740	2	CYP4F12	19	15794373	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3074	15794373	43334610	18169	20315											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000324632.9_Silent_p.I469I	NM_023944.3	NP_076433.3			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													38	151					0	0	1	0	0	T	15807727	C	T	15807727	2	4	22	1	0	0	0	0	0	0	0	1	4210	874	31	1		1	CYP4F12	19	15807727	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13354	15807727	43321256	18170	20316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													319	1437					0	0	1	0	0	T	15852477	C	T	15852477	3	4	22	1	0	0	0	0	1	0	0	0	10955	855	30	2	277	2	OR10H3	19	15852477	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44750	15852477	43276506	18171	20317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													204	907					0	0	1	0	0	T	15852562	C	T	15852562	2	4	22	1	0	0	0	0	0	0	0	1	10955	784	28	2		2	OR10H3	19	15852562	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85	15852562	43276421	18172	20318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15990414C>A	ENST00000221700.5	-	11	1409	c.1314_splice	c.e11+1	p.E438_splice	CYP4F2_ENST00000592328.1_Splice_Site_p.E438_splice	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	438					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													107	616					3.10586e-51	3.85317e-51	1	1	0	A	15990414	C	A	15990414	5	1	22	1	0	0	0	0	0	0	1	0	4211	695	24	2	260	2	CYP4F2	19	15990414	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137852	15990414	43138569	18173	20319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15990671G>T	ENST00000221700.5	-	10	1247	c.1152C>A	c.(1150-1152)tgC>tgA	p.C384*	CYP4F2_ENST00000592328.1_Nonsense_Mutation_p.C384*	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	384					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													26	749					2.4375e-19	2.7179e-19	1	1	0	T	15990671	G	T	15990671	4	4	22	1	0	0	0	0	0	1	0	0	4211	1311	46	2	426	2	CYP4F2	19	15990671	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	257	15990671	43138312	18174	20320											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15997079C>A	ENST00000221700.5	-	8	1053	c.958G>T	c.(958-960)Gca>Tca	p.A320S	CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Missense_Mutation_p.A320S	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	320					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													292	1286					7.85725e-59	9.86004e-59	1	1	0	A	15997079	C	A	15997079	3	1	22	1	0	0	0	0	1	0	0	0	4211	797	28	2	628	2	CYP4F2	19	15997079	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6408	15997079	43131904	18175	20321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16034677T>G	ENST00000326742.7	-	6	864	c.863A>C	c.(862-864)aAg>aCg	p.K288T	CYP4F11_ENST00000402119.3_Missense_Mutation_p.K288T|CYP4F11_ENST00000248041.7_Missense_Mutation_p.K288T			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	288					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													167	680					0	0	1	0	0	G	16034677	T	G	16034677	3	3	22	1	0	0	0	0	1	0	0	0	4209	1609	56	3	739	3	CYP4F11	19	16034677	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37598	16034677	43094306	18176	20322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	368					3.90494e-43	4.76426e-43	1	1	0	A	16232605	C	A	16232605	4	1	22	1	0	0	0	0	0	1	0	0	13008	576	20	2	241	2	RAB8A	19	16232605	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	197928	16232605	42896378	18177	20323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429941.2_Silent_p.S47S|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000541844.1_Intron	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													60	336					0	0	1	0	0	A	16314368	G	A	16314368	2	1	22	1	0	0	0	0	0	0	0	1	730	1074	38	1		1	AP1M1	19	16314368	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81763	16314368	42814615	18178	20324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429941.2_Intron|AP1M1_ENST00000590756.1_Silent_p.S259S|AP1M1_ENST00000541844.1_Silent_p.S259S	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													54	186					0	0	1	0	0	T	16339685	C	T	16339685	2	4	22	1	0	0	0	0	0	0	0	1	730	767	27	1		1	AP1M1	19	16339685	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25317	16339685	42789298	18179	20325											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.Q35H	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													45	515					2.35958e-20	2.64308e-20	1	1	0	T	16611708	G	T	16611708	3	4	22	1	0	0	0	0	1	0	0	0	1939	933	33	2	107	2	C19orf44	19	16611708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	272023	16611708	42517275	18180	20326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.G237D	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													65	354					0	0	1	0	0	A	16612313	G	A	16612313	3	1	22	1	0	0	0	0	1	0	0	0	1939	1203	42	2	712	2	C19orf44	19	16612313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	605	16612313	42516670	18181	20327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.G369S	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													12	144					0	0	1	0	0	A	16617541	G	A	16617541	3	1	22	1	0	0	0	0	1	0	0	0	1939	1116	39	1	1115	1	C19orf44	19	16617541	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5228	16617541	42511442	18182	20328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_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													56	239					0	0	1	0	0	A	16623887	G	A	16623887	3	1	22	1	0	0	0	0	1	0	0	0	1939	1087	38	1	1720	1	C19orf44	19	16623887	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6346	16623887	42505096	18183	20329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CHERP_ENST00000198939.6_Missense_Mutation_p.R273W|CTD-3222D19.2_ENST00000409035.1_Intron	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													78	344					0	0	1	0	0	A	16641582	G	A	16641582	3	1	22	1	0	0	0	0	1	0	0	0	3358	1115	39	1	2014	1	CHERP	19	16641582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17695	16641582	42487401	18184	20330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	315					0	0	1	0	0	A	16677435	G	A	16677435	2	1	22	1	0	0	0	0	0	0	0	1	14639	962	34	2		2	SLC35E1	19	16677435	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35853	16677435	42451548	18185	20331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	113					0	0	1	0	0	A	16687637	G	A	16687637	3	1	22	1	0	0	0	0	1	0	0	0	9494	1087	38	1	802	1	MED26	19	16687637	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10202	16687637	42441346	18186	20332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	157					0	0	1	0	0	A	16688235	G	A	16688235	2	1	22	1	0	0	0	0	0	0	0	1	9494	962	34	2		2	MED26	19	16688235	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	598	16688235	42440748	18187	20333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	463					0	0	1	0	0	A	16688461	G	A	16688461	2	1	22	1	0	0	0	0	0	0	0	1	9494	1161	41	2		2	MED26	19	16688461	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	226	16688461	42440522	18188	20334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													245	1012					0	0	1	0	0	G	16791297	T	G	16791297	3	3	22	1	0	0	0	0	1	0	0	0	16219	1696	59	3	381	3	TMEM38A	19	16791297	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	102836	16791297	42337686	18189	20335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000549814.1_Silent_p.L934L|NWD1_ENST00000552788.1_Silent_p.L934L|NWD1_ENST00000339803.6_Silent_p.L799L|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													94	324					0	0	1	0	0	T	16899861	C	T	16899861	2	4	22	1	0	0	0	0	0	0	0	1	10829	796	28	2		2	NWD1	19	16899861	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108564	16899861	42229122	18190	20336											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000549814.1_Silent_p.A1100A|NWD1_ENST00000552788.1_Silent_p.A1100A|NWD1_ENST00000339803.6_Silent_p.A965A|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													8	52					0	0	1	0	0	T	16905360	C	T	16905360	2	4	22	1	0	0	0	0	0	0	0	1	10829	639	23	1		1	NWD1	19	16905360	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5499	16905360	42223623	18191	20337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000523826.1_Missense_Mutation_p.A1341V|NWD1_ENST00000549814.1_Missense_Mutation_p.A1505V|NWD1_ENST00000524140.2_3'UTR|NWD1_ENST00000339803.6_Missense_Mutation_p.A1412V|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													24	177					0	0	1	0	0	T	16926085	C	T	16926085	3	4	22	1	0	0	0	0	1	0	0	0	10829	739	26	2	4297	2	NWD1	19	16926085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20725	16926085	42202898	18192	20338											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	364					0	0	1	0	0	T	16977334	C	T	16977334	2	4	22	1	0	0	0	0	0	0	0	1	14381	796	28	2		2	SIN3B	19	16977334	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51249	16977334	42151649	18193	20339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	209					0	0	1	0	0	T	16987345	C	T	16987345	2	4	22	1	0	0	0	0	0	0	0	1	14381	680	24	2		2	SIN3B	19	16987345	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10011	16987345	42141638	18194	20340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	67					3.45872e-05	3.53336e-05	1	1	0	A	17001352	C	A	17001352	3	1	22	1	0	0	0	0	1	0	0	0	5374	739	26	2	1084	2	F2RL3	19	17001352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14007	17001352	42127631	18195	20341											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	203					0	0	1	0	0	C	17010326	T	C	17010326	3	2	22	1	0	0	0	0	1	0	0	0	3818	1406	49	3	873	3	CPAMD8	19	17010326	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8974	17010326	42118657	18196	20342											
CPAMD8	27151	broad.mit.edu	37	chr19	17013581	17013581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggaggcaggcatggggggCgggcgtccctgggcctcagg	22	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17013581C>T	ENST00000443236.1	-	35	4735	c.4704G>A	c.(4702-4704)ccG>ccA	p.P1568P		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1521						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						GCATGGGGGGCGGGCGTCCCT	0.647													113	465					0	0	1	0	0	T	17013581	C	T	17013581	2	4	22	1	0	0	0	0	0	0	0	1	3818	755	27	1		1	CPAMD8	19	17013581	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3255	17013581	42115402	18197	20343											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	54					2.27731e-05	2.32891e-05	1	1	0	A	17132946	C	A	17132946	3	1	22	1	0	0	0	0	1	0	0	0	3818	680	24	2	5683	2	CPAMD8	19	17132946	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119365	17132946	41996037	18198	20344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	527					0	0	1	0	0	A	17166810	G	A	17166810	2	1	22	1	0	0	0	0	0	0	0	1	7013	1048	37	1		1	HAUS8	19	17166810	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33864	17166810	41962173	18199	20345											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	144					0.000157383	0.000159814	1	1	0	A	17212778	C	A	17212778	3	1	22	1	0	0	0	0	1	0	0	0	10133	681	24	2	253	2	MYO9B	19	17212778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45968	17212778	41916205	18200	20346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	129					0	0	1	0	0	T	17343433	C	T	17343433	3	4	22	1	0	0	0	0	1	0	0	0	10677	768	27	1	275	1	NR2F6	19	17343433	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130655	17343433	41785550	18201	20347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	335					0	0	1	0	0	T	17369103	C	T	17369103	3	4	22	1	0	0	0	0	1	0	0	0	17097	797	28	2	997	2	USHBP1	19	17369103	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25670	17369103	41759880	18202	20348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	240					0	0	1	0	0	G	17373371	A	G	17373371	3	3	22	1	0	0	0	0	1	0	0	0	17097	188	7	3	1519	3	USHBP1	19	17373371	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4268	17373371	41755612	18203	20349											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													141	501					3.73943e-79	4.7788e-79	1	1	0	A	17373654	C	A	17373654	3	1	22	1	0	0	0	0	1	0	0	0	17097	884	31	4	1802	4	USHBP1	19	17373654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	283	17373654	41755329	18204	20350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_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													106	430					0	0	1	0	0	A	17405187	G	A	17405187	2	1	22	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	18205	20351											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	924					0	0	1	0	0	A	17435885	G	A	17435885	3	1	22	1	0	0	0	0	1	0	0	0	697	1294	45	2	734	2	ANO8	19	17435885	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30698	17435885	41693098	18206	20352											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	367					0	0	1	0	0	T	17442206	C	T	17442206	3	4	22	1	0	0	0	0	1	0	0	0	697	797	28	2	3149	2	ANO8	19	17442206	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6321	17442206	41686777	18207	20353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	228					0	0	1	0	0	A	17443792	G	A	17443792	3	1	22	1	0	0	0	0	1	0	0	0	697	1203	42	2	3221	2	ANO8	19	17443792	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1586	17443792	41685191	18208	20354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600625.1_Missense_Mutation_p.A67S|GTPBP3_ENST00000361619.5_Missense_Mutation_p.A89S|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000358792.7_Missense_Mutation_p.A67S	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													17	88					1.00905e-13	1.09121e-13	1	1	0	T	17448962	G	T	17448962	3	4	22	1	0	0	0	0	1	0	0	0	6922	971	34	2	205	2	GTPBP3	19	17448962	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5170	17448962	41680021	18209	20355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600625.1_Silent_p.E215E|GTPBP3_ENST00000361619.5_Silent_p.E237E|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000358792.7_Silent_p.E215E	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													75	345					0	0	1	0	0	A	17449816	G	A	17449816	2	1	22	1	0	0	0	0	0	0	0	1	6922	991	35	2		2	GTPBP3	19	17449816	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	854	17449816	41679167	18210	20356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600625.1_Missense_Mutation_p.R308W|GTPBP3_ENST00000361619.5_Missense_Mutation_p.R330W|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000358792.7_Missense_Mutation_p.R340W	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													57	237					0	0	1	0	0	T	17450356	C	T	17450356	3	4	22	1	0	0	0	0	1	0	0	0	6922	759	27	1	1040	1	GTPBP3	19	17450356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	540	17450356	41678627	18211	20357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600625.1_Missense_Mutation_p.P360S|GTPBP3_ENST00000361619.5_Missense_Mutation_p.P403S|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000358792.7_Missense_Mutation_p.P413S	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													9	172					0	0	1	0	0	T	17452019	C	T	17452019	3	4	22	1	0	0	0	0	1	0	0	0	6922	623	22	2	1263	2	GTPBP3	19	17452019	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1663	17452019	41676964	18212	20358											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	208					0	0	1	0	0	A	17487909	G	A	17487909	2	1	22	1	0	0	0	0	0	0	0	1	12164	1103	39	1		1	PLVAP	19	17487909	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35890	17487909	41641074	18213	20359											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	384					0	0	1	0	0	A	17516300	G	A	17516300	2	1	22	1	0	0	0	0	0	0	0	1	1536	933	33	2		2	BST2	19	17516300	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28391	17516300	41612683	18214	20360											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442725.1_Missense_Mutation_p.P4S|SLC27A1_ENST00000598424.1_5'UTR	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													8	31					0	0	1	0	0	T	17581359	C	T	17581359	3	4	22	1	0	0	0	0	1	0	0	0	14580	855	30	2	12	2	SLC27A1	19	17581359	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65059	17581359	41547624	18215	20361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000598848.1_3'UTR|SLC27A1_ENST00000442725.1_Missense_Mutation_p.R617Q|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598424.1_Missense_Mutation_p.R438Q	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													78	355					0	0	1	0	0	A	17615330	G	A	17615330	3	1	22	1	0	0	0	0	1	0	0	0	14580	1116	39	1	1896	1	SLC27A1	19	17615330	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33971	17615330	41513653	18216	20362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17628198G>T	ENST00000252603.2	+	3	542	c.498_splice	c.e3+1	p.Q166_splice		NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	166						cytosol	6-phosphogluconolactonase activity			endometrium(1)|lung(1)	2						CCCTCCTACAGGTGAGCACAC	0.622													67	624					1.92745e-42	2.3466e-42	1	1	0	T	17628198	G	T	17628198	5	4	22	1	0	0	0	0	0	0	1	0	11840	1014	35	2	508	2	PGLS	19	17628198	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12868	17628198	41500785	18217	20363											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449408.2_5'UTR|FAM129C_ENST00000595684.1_Missense_Mutation_p.A208S|FAM129C_ENST00000352727.3_Missense_Mutation_p.A208S|FAM129C_ENST00000601861.1_Missense_Mutation_p.A177S|FAM129C_ENST00000332386.5_Missense_Mutation_p.A208S|FAM129C_ENST00000600871.1_Missense_Mutation_p.A154S|FAM129C_ENST00000300971.2_Missense_Mutation_p.A208S|FAM129C_ENST00000599124.1_Missense_Mutation_p.A177S|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000599164.1_Missense_Mutation_p.A177S	NM_173544.4	NP_775815.2	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													104	411					1.66795e-42	2.03135e-42	1	1	0	T	17648286	G	T	17648286	3	4	22	1	0	0	0	0	1	0	0	0	5469	971	34	2	644	2	FAM129C	19	17648286	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20088	17648286	41480697	18218	20364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550896.1_Missense_Mutation_p.K1362R|UNC13A_ENST00000552293.1_Missense_Mutation_p.K1364R|UNC13A_ENST00000551649.1_Missense_Mutation_p.K1364R|UNC13A_ENST00000519716.2_Missense_Mutation_p.K1364R|UNC13A_ENST00000252773.7_Missense_Mutation_p.K1364R			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													53	237					0	0	1	0	0	C	17735744	T	C	17735744	3	2	22	1	0	0	0	0	1	0	0	0	17044	1841	64	3	1056	3	UNC13A	19	17735744	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	87458	17735744	41393239	18219	20365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550896.1_Missense_Mutation_p.V894I|UNC13A_ENST00000552293.1_Missense_Mutation_p.V896I|UNC13A_ENST00000551649.1_Missense_Mutation_p.V896I|UNC13A_ENST00000519716.2_Missense_Mutation_p.V896I|UNC13A_ENST00000252773.7_Missense_Mutation_p.V896I			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													5	25					0	0	1	0	0	T	17751421	C	T	17751421	3	4	22	1	0	0	0	0	1	0	0	0	17044	536	19	1	2513	1	UNC13A	19	17751421	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15677	17751421	41377562	18220	20366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550896.1_Missense_Mutation_p.R866H|UNC13A_ENST00000552293.1_Missense_Mutation_p.R868H|UNC13A_ENST00000551649.1_Missense_Mutation_p.R868H|UNC13A_ENST00000519716.2_Missense_Mutation_p.R868H|UNC13A_ENST00000252773.7_Missense_Mutation_p.R868H			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													48	214					0	0	1	0	0	T	17752235	C	T	17752235	3	4	22	1	0	0	0	0	1	0	0	0	17044	768	27	1	2600	1	UNC13A	19	17752235	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	814	17752235	41376748	18221	20367											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550896.1_Missense_Mutation_p.P719L|UNC13A_ENST00000552293.1_Missense_Mutation_p.P721L|UNC13A_ENST00000551649.1_Missense_Mutation_p.P721L|UNC13A_ENST00000519716.2_Missense_Mutation_p.P721L|UNC13A_ENST00000252773.7_Missense_Mutation_p.P721L			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													16	77					0	0	1	0	0	A	17756803	G	A	17756803	3	1	22	1	0	0	0	0	1	0	0	0	17044	1116	39	1	3053	1	UNC13A	19	17756803	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4568	17756803	41372180	18222	20368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550896.1_Missense_Mutation_p.A420V|UNC13A_ENST00000552293.1_Missense_Mutation_p.A420V|UNC13A_ENST00000551649.1_Missense_Mutation_p.A420V|UNC13A_ENST00000519716.2_Missense_Mutation_p.A420V|UNC13A_ENST00000252773.7_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													20	97					0	0	1	0	0	A	17766716	G	A	17766716	3	1	22	1	0	0	0	0	1	0	0	0	17044	971	34	2	3984	2	UNC13A	19	17766716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9913	17766716	41362267	18223	20369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544059.2_Silent_p.Y187Y|MAP1S_ENST00000597681.1_Intron	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													41	111					0	0	1	0	0	T	17836832	C	T	17836832	2	4	22	1	0	0	0	0	0	0	0	1	9284	547	19	1		1	MAP1S	19	17836832	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70116	17836832	41292151	18224	20370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544059.2_Silent_p.C316C|MAP1S_ENST00000597681.1_Intron	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													15	42					0	0	1	0	0	T	17837219	C	T	17837219	2	4	22	1	0	0	0	0	0	0	0	1	9284	776	27	1		1	MAP1S	19	17837219	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	387	17837219	41291764	18225	20371											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17873639G>A	ENST00000595033.1	+	0	186				FCHO1_ENST00000389133.4_Silent_p.E32E|FCHO1_ENST00000594202.1_Silent_p.E32E|FCHO1_ENST00000252771.7_Silent_p.E32E|FCHO1_ENST00000600676.1_Silent_p.E32E|FCHO1_ENST00000599236.1_3'UTR|FCHO1_ENST00000596951.1_Silent_p.E32E|FCHO1_ENST00000596536.1_Silent_p.E32E|FCHO1_ENST00000539407.1_Silent_p.E32E|FCHO1_ENST00000597512.1_Silent_p.E39E	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													75	418					0	0	1	0	0	A	17873639	G	A	17873639	1	1	22	1	0	0	0	0	0	0	0	0	5820	962	34	2		2	FCHO1	19	17873639	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36420	17873639	41255344	18226	20372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389133.4_Missense_Mutation_p.L739M|FCHO1_ENST00000252771.7_Missense_Mutation_p.L739M|FCHO1_ENST00000600676.1_Missense_Mutation_p.L739M|FCHO1_ENST00000596951.1_Missense_Mutation_p.L739M|FCHO1_ENST00000596536.1_Missense_Mutation_p.L739M|FCHO1_ENST00000539407.1_Missense_Mutation_p.L739M|FCHO1_ENST00000595033.1_Missense_Mutation_p.L689M|FCHO1_ENST00000597512.1_Missense_Mutation_p.L746M	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)	27	83					2.48779e-11	2.65321e-11	1	1	0	A	17895033	C	A	17895033	3	1	22	1	0	0	0	0	1	0	0	0	5820	796	28	2	2301	2	FCHO1	19	17895033	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21394	17895033	41233950	18227	20373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	237					0	0	1	0	0	A	17919059	G	A	17919059	3	1	22	1	0	0	0	0	1	0	0	0	1256	1203	42	2	445	2	B3GNT3	19	17919059	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24026	17919059	41209924	18228	20374											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								118	582					7.90946e-78	1.01002e-77	1	1	0	T	17937567	G	T	17937567	2	4	22	1	0	0	0	0	0	0	0	1	7983	1219	43	2		2	JAK3	19	17937567	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18508	17937567	41191416	18229	20375	134	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								140	550					0	0	1	0	0	A	17937570	G	A	17937570	2	1	22	1	0	0	0	0	0	0	0	1	7983	1020	36	2		2	JAK3	19	17937570	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3	17937570	41191413	18230	20376	134	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								115	446					0	0	1	0	0	T	17943451	C	T	17943451	3	4	22	1	0	0	0	0	1	0	0	0	7983	739	26	2	841	2	JAK3	19	17943451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5881	17943451	41185532	18231	20377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								56	501					0	0	1	0	0	T	17945726	C	T	17945726	3	4	22	1	0	0	0	0	1	0	0	0	7983	652	23	1	1276	1	JAK3	19	17945726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2275	17945726	41183257	18232	20378											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								62	309					0	0	1	0	0	T	17945947	C	T	17945947	2	4	22	1	0	0	0	0	0	0	0	1	7983	755	27	1		1	JAK3	19	17945947	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221	17945947	41183036	18233	20379											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								83	313					7.63117e-38	9.17446e-38	1	1	0	A	17946822	C	A	17946822	3	1	22	1	0	0	0	0	1	0	0	0	7983	913	32	2	1593	2	JAK3	19	17946822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	875	17946822	41182161	18234	20380											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17973031C>A	ENST00000600147.1	+	3	363	c.328_splice	c.e3+1	p.C109_splice	RPL18A_ENST00000599870.1_Splice_Site_p.C80_splice|RPL18A_ENST00000599898.1_Splice_Site_p.C70_splice|RPL18A_ENST00000222247.5_Splice_Site_p.C109_splice			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													86	521					4.64247e-43	5.66271e-43	1	1	0	A	17973031	C	A	17973031	5	1	22	1	0	0	0	0	0	0	1	0	13617	811	28	2	337	2	RPL18A	19	17973031	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26209	17973031	41155952	18235	20381											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	454					0	0	1	0	0	A	17988625	G	A	17988625	2	1	22	1	0	0	0	0	0	0	0	1	14723	1074	38	1		1	SLC5A5	19	17988625	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15594	17988625	41140358	18236	20382											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	252					0	0	1	0	0	T	17988836	C	T	17988836	2	4	22	1	0	0	0	0	0	0	0	1	14723	874	31	1		1	SLC5A5	19	17988836	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211	17988836	41140147	18237	20383											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	35					0	0	1	0	0	A	18054174	G	A	18054174	3	1	22	1	0	0	0	0	1	0	0	0	2778	1319	46	2	464	2	CCDC124	19	18054174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65338	18054174	41074809	18238	20384											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18119532C>T	ENST00000222250.4	+	2	430	c.287C>T	c.(286-288)aCc>aTc	p.T96I	ARRDC2_ENST00000595712.1_3'UTR|ARRDC2_ENST00000379656.2_Missense_Mutation_p.T91I	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	96										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						ACCGGGGAGACCACGACGCTG	0.657													77	434					0	0	1	0	0	T	18119532	C	T	18119532	3	4	22	1	0	0	0	0	1	0	0	0	982	507	18	2	556	2	ARRDC2	19	18119532	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65358	18119532	41009451	18239	20385											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18187135G>A	ENST00000600835.1	-	7	855	c.552C>T	c.(550-552)ggC>ggT	p.G184G	IL12RB1_ENST00000593993.1_Silent_p.G184G|IL12RB1_ENST00000430026.2_Silent_p.G184G|IL12RB1_ENST00000322153.6_Silent_p.G184G			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	184	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													8	198					0	0	1	0	0	A	18187135	G	A	18187135	2	1	22	1	0	0	0	0	0	0	0	1	7670	1074	38	1		1	IL12RB1	19	18187135	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67603	18187135	40941848	18240	20386											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18239701G>A	ENST00000262811.5	+	12	1076	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	359							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													61	302					0	0	1	0	0	A	18239701	G	A	18239701	3	1	22	1	0	0	0	0	1	0	0	0	9376	1116	39	1	1122	1	MAST3	19	18239701	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52566	18239701	40889282	18241	20387											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18245404G>A	ENST00000262811.5	+	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	500	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													23	66					0	0	1	0	0	A	18245404	G	A	18245404	2	1	22	1	0	0	0	0	0	0	0	1	9376	1074	38	1		1	MAST3	19	18245404	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5703	18245404	40883579	18242	20388											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18249831C>T	ENST00000262811.5	+	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	672	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													4	36					0	0	1	0	0	T	18249831	C	T	18249831	3	4	22	1	0	0	0	0	1	0	0	0	9376	893	31	1	2089	1	MAST3	19	18249831	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4427	18249831	40879152	18243	20389											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18249857G>A	ENST00000262811.5	+	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	681	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													6	37					0	0	1	0	0	A	18249857	G	A	18249857	3	1	22	1	0	0	0	0	1	0	0	0	9376	1059	37	1	2115	1	MAST3	19	18249857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26	18249857	40879126	18244	20390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18252741C>A	ENST00000262811.5	+	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	723							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													13	47					2.27111e-07	2.35674e-07	1	1	0	A	18252741	C	A	18252741	3	1	22	1	0	0	0	0	1	0	0	0	9376	797	28	2	2246	2	MAST3	19	18252741	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2884	18252741	40876242	18245	20391											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000222254.7_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													17	116					0	0	1	0	0	T	18273018	C	T	18273018	3	4	22	1	0	0	0	0	1	0	0	0	11967	652	23	1	934	1	PIK3R2	19	18273018	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20277	18273018	40855965	18246	20392											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000222254.7_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													27	291					4.22769e-11	4.50498e-11	1	1	0	A	18279918	C	A	18279918	3	1	22	1	0	0	0	0	1	0	0	0	11967	564	20	2	2059	2	PIK3R2	19	18279918	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6900	18279918	40849065	18247	20393											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18285994A>T	ENST00000407280.2	+	2	345	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	93					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													10	45					0	0	1	0	0	T	18285994	A	T	18285994	3	4	22	1	0	0	0	0	1	0	0	0	7559	333	12	5	283	5	IFI30	19	18285994	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6076	18285994	40842989	18248	20394											
MPV17L2	84769	broad.mit.edu	37	chr19	18305800	18305800	+	Missense_Mutation	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18305800C>T	ENST00000534474.2	+	3	441	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	MPV17L2_ENST00000599612.2_Silent_p.F156F			Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	137						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						CTGCGCAGTTCGTGAACTTCC	0.667													66	331					0	0	1	0	0	T	18305800	C	T	18305800	3	4	22	1	0	0	0	0	1	0	0	0	9796	883	31	1	482	1	MPV17L2	19	18305800	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19806	18305800	40823183	18249	20395											
MPV17L2	84769	broad.mit.edu	37	chr19	18305857	18305857	+	Missense_Mutation	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18305857G>A	ENST00000534474.2	+	3	498	c.448G>A	c.(448-450)Gct>Act	p.A150T	MPV17L2_ENST00000599612.2_Silent_p.T175T			Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	0						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						ACGGCCTGACGCTGGGCTGGG	0.622													101	404					0	0	1	0	0	A	18305857	G	A	18305857	3	1	22	1	0	0	0	0	1	0	0	0	9796	1074	38	1	539	1	MPV17L2	19	18305857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57	18305857	40823126	18250	20396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000464076.2_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													70	350					0	0	1	0	0	T	18311216	C	T	18311216	3	4	22	1	0	0	0	0	1	0	0	0	12983	768	27	1	406	1	RAB3A	19	18311216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5359	18311216	40817767	18251	20397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447275.2_Missense_Mutation_p.K27N|PDE4C_ENST00000594617.2_Missense_Mutation_p.K133N|PDE4C_ENST00000262805.11_Missense_Mutation_p.K101N|PDE4C_ENST00000594465.2_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													44	182					3.05275e-18	3.38534e-18	1	1	0	A	18332977	C	A	18332977	3	1	22	1	0	0	0	0	1	0	0	0	11688	680	24	2	1795	2	PDE4C	19	18332977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21761	18332977	40796006	18252	20398											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18368859C>A	ENST00000392413.3	-	4	3450	c.3235G>T	c.(3235-3237)Gcc>Tcc	p.A1079S	KIAA1683_ENST00000600328.2_Missense_Mutation_p.A892S|KIAA1683_ENST00000600359.2_Missense_Mutation_p.A846S	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	1090						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													30	793					1.80694e-10	1.9163e-10	1	1	0	A	18368859	C	A	18368859	3	1	22	1	0	0	0	0	1	0	0	0	8293	797	28	2	872	2	KIAA1683	19	18368859	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35882	18368859	40760124	18253	20399											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	124					0	0	1	0	0	C	18391375	T	C	18391375	3	2	22	1	0	0	0	0	1	0	0	0	8015	1725	60	3	127	3	JUND	19	18391375	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22516	18391375	40737608	18254	20400											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000252816.5_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													32	158					0	0	1	0	0	T	18420644	C	T	18420644	3	4	22	1	0	0	0	0	1	0	0	0	9103	893	31	1	255	1	LSM4	19	18420644	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29269	18420644	40708339	18255	20401											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	409					0	0	1	0	0	A	18507051	G	A	18507051	2	1	22	1	0	0	0	0	0	0	0	1	9025	1020	36	2		2	LRRC25	19	18507051	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86407	18507051	40621932	18256	20402											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	195					0	0	1	0	0	T	18507290	C	T	18507290	3	4	22	1	0	0	0	0	1	0	0	0	9025	739	26	2	441	2	LRRC25	19	18507290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239	18507290	40621693	18257	20403											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18538218G>A	ENST00000270061.6	+	2	337	c.117G>A	c.(115-117)caG>caA	p.Q39Q	SSBP4_ENST00000348495.5_Silent_p.Q39Q	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	39	LisH.					nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						AGTCAGCCCAGACCTTCCTGT	0.642													33	117					0	0	1	0	0	A	18538218	G	A	18538218	2	1	22	1	0	0	0	0	0	0	0	1	15238	933	33	2		2	SSBP4	19	18538218	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30928	18538218	40590765	18258	20404											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18541673C>A	ENST00000270061.6	+	5	522	c.302C>A	c.(301-303)cCc>cAc	p.P101H	SSBP4_ENST00000348495.5_Missense_Mutation_p.P101H	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	101						nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						GCCCCCAGCCCCGTTATGGGG	0.662													32	160					3.03874e-20	3.40186e-20	1	1	0	A	18541673	C	A	18541673	3	1	22	1	0	0	0	0	1	0	0	0	15238	623	22	2	320	2	SSBP4	19	18541673	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3455	18541673	40587310	18259	20405											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18547207G>A	ENST00000545187.1	-	3	528	c.242C>T	c.(241-243)aCg>aTg	p.T81M	ISYNA1_ENST00000578963.1_Missense_Mutation_p.T103M|ISYNA1_ENST00000317018.6_Missense_Mutation_p.T29M|ISYNA1_ENST00000457269.3_Missense_Mutation_p.T177M|ISYNA1_ENST00000338128.7_Missense_Mutation_p.T231M			Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	231					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													97	418					0	0	1	0	0	A	18547207	G	A	18547207	3	1	22	1	0	0	0	0	1	0	0	0	7911	1145	40	1	1008	1	ISYNA1	19	18547207	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5534	18547207	40581776	18260	20406											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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		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								290	1378					1.25801e-74	1.60312e-74	1	1	0	A	18556055	C	A	18556055	3	1	22	1	0	0	0	0	1	0	0	0	5090	680	24	2	145	2	ELL	19	18556055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8848	18556055	40572928	18261	20407											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18648447C>T	ENST00000597960.2	-	6	1029	c.909G>A	c.(907-909)caG>caA	p.Q303Q	FKBP8_ENST00000453489.2_Silent_p.Q331Q|FKBP8_ENST00000222308.3_Silent_p.Q303Q|FKBP8_ENST00000544835.2_Silent_p.Q143Q|FKBP8_ENST00000596558.1_Silent_p.Q302Q			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	302					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													20	227					0	0	1	0	0	T	18648447	C	T	18648447	2	4	22	1	0	0	0	0	0	0	0	1	5947	796	28	2		2	FKBP8	19	18648447	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92392	18648447	40480536	18262	20408											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000222308.3_5'UTR|FKBP8_ENST00000597960.2_5'UTR|FKBP8_ENST00000544835.2_5'UTR|FKBP8_ENST00000596558.1_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													33	154					1.07637e-12	1.15814e-12	1	1	0	A	18652785	C	A	18652785	3	1	22	1	0	0	0	0	1	0	0	0	5947	812	28	2		2	FKBP8	19	18652785	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4338	18652785	40476198	18263	20409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	217					0	0	1	0	0	A	18710412	G	A	18710412	2	1	22	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	18264	20410	135	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	211					0	0	1	0	0	T	18710420	C	T	18710420	3	4	22	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	18265	20411	135	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	451					0	0	1	0	0	A	18724703	G	A	18724703	3	1	22	1	0	0	0	0	1	0	0	0	16246	1059	37	1	199	1	TMEM59L	19	18724703	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14283	18724703	40404280	18266	20412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	465					0	0	1	0	0	A	18724721	G	A	18724721	3	1	22	1	0	0	0	0	1	0	0	0	16246	971	34	2	217	2	TMEM59L	19	18724721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18	18724721	40404262	18267	20413											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	431					2.27111e-07	2.35674e-07	1	1	0	A	18731268	C	A	18731268	2	1	22	1	0	0	0	0	0	0	0	1	16246	610	22	2		2	TMEM59L	19	18731268	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6547	18731268	40397715	18268	20414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	340					0	0	1	0	0	A	18778902	G	A	18778902	3	1	22	1	0	0	0	0	1	0	0	0	8424	1087	38	1	705	1	KLHL26	19	18778902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47634	18778902	40350081	18269	20415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	363					0	0	1	0	0	A	18779809	G	A	18779809	2	1	22	1	0	0	0	0	0	0	0	1	8424	1103	39	1		1	KLHL26	19	18779809	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	907	18779809	40349174	18270	20416											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000601916.1_Intron|CRTC1_ENST00000321949.8_Missense_Mutation_p.A495T|CRTC1_ENST00000594658.1_Missense_Mutation_p.A454T	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													76	285					0	0	1	0	0	A	18885767	G	A	18885767	3	1	22	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	18271	20417											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000601916.1_Silent_p.D356D|CRTC1_ENST00000321949.8_Silent_p.D598D|CRTC1_ENST00000594658.1_Silent_p.D557D	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													348	1541					0	0	1	0	0	T	18888081	C	T	18888081	2	4	22	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	18272	20418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000425807.1_Missense_Mutation_p.R668C|COMP_ENST00000222271.2_Missense_Mutation_p.R721C			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													47	227					0	0	1	0	0	A	18893930	G	A	18893930	3	1	22	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	18273	20419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18901372G>A	ENST00000542601.2	-	2	506	c.118_splice	c.e2+1	p.C39_splice	COMP_ENST00000425807.1_Splice_Site_p.C72_splice|COMP_ENST00000222271.2_Splice_Site_p.C72_splice			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													305	1605					0	0	1	0	0	A	18901372	G	A	18901372	5	1	22	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	18274	20420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000425807.1_Silent_p.I59I|COMP_ENST00000222271.2_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													258	1339					0	0	1	0	0	A	18901411	G	A	18901411	2	1	22	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	18275	20421											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000546344.1_Missense_Mutation_p.T137I|ARMC6_ENST00000392336.3_Missense_Mutation_p.T230I|ARMC6_ENST00000392335.2_Missense_Mutation_p.T205I|ARMC6_ENST00000269932.6_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													36	199					0	0	1	0	0	T	19162840	C	T	19162840	3	4	22	1	0	0	0	0	1	0	0	0	954	507	18	2	624	2	ARMC6	19	19162840	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	261429	19162840	39966143	18276	20422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000546344.1_Missense_Mutation_p.Q286H|ARMC6_ENST00000392336.3_Missense_Mutation_p.Q379H|ARMC6_ENST00000392335.2_Missense_Mutation_p.Q354H|ARMC6_ENST00000269932.6_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													64	251					1.02487e-32	1.21166e-32	1	1	0	T	19166187	G	T	19166187	3	4	22	1	0	0	0	0	1	0	0	0	954	962	34	2	1080	2	ARMC6	19	19166187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3347	19166187	39962796	18277	20423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000546344.1_Missense_Mutation_p.R313C|ARMC6_ENST00000392336.3_Missense_Mutation_p.R406C|ARMC6_ENST00000392335.2_Missense_Mutation_p.R381C|ARMC6_ENST00000269932.6_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													144	589					0	0	1	0	0	T	19166660	C	T	19166660	3	4	22	1	0	0	0	0	1	0	0	0	954	652	23	1	1163	1	ARMC6	19	19166660	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	473	19166660	39962323	18278	20424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000546344.1_Silent_p.A385A|ARMC6_ENST00000392336.3_Silent_p.A478A|ARMC6_ENST00000392335.2_Silent_p.A453A|ARMC6_ENST00000269932.6_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													77	315					0	0	1	0	0	T	19168365	C	T	19168365	2	4	22	1	0	0	0	0	0	0	0	1	954	610	22	2		2	ARMC6	19	19168365	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1705	19168365	39960618	18279	20425											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	79					0	0	1	0	0	A	19221530	G	A	19221530	3	1	22	1	0	0	0	0	1	0	0	0	14562	1087	38	1	828	1	SLC25A42	19	19221530	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53165	19221530	39907453	18280	20426											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000456252.3_Silent_p.S137S|RFXANK_ENST00000353145.1_Silent_p.S136S|RFXANK_ENST00000407360.3_Silent_p.S159S	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													145	623					0	0	1	0	0	T	19308954	C	T	19308954	2	4	22	1	0	0	0	0	0	0	0	1	13321	767	27	1		1	RFXANK	19	19308954	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87424	19308954	39820029	18281	20427											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19339148A>G	ENST00000252575.5	+	8	2762	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	907					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													20	621					0	0	1	0	0	G	19339148	A	G	19339148	3	3	22	1	0	0	0	0	1	0	0	0	10251	275	10	3	2745	3	NCAN	19	19339148	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30194	19339148	39789835	18282	20428											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19344688G>A	ENST00000252575.5	+	9	3153	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	1037	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													62	280					0	0	1	0	0	A	19344688	G	A	19344688	3	1	22	1	0	0	0	0	1	0	0	0	10251	1203	42	2	3140	2	NCAN	19	19344688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5540	19344688	39784295	18283	20429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19351435A>G	ENST00000252575.5	+	12	3476	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	1145	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													32	330					0	0	1	0	0	G	19351435	A	G	19351435	3	3	22	1	0	0	0	0	1	0	0	0	10251	333	12	3	3475	3	NCAN	19	19351435	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6747	19351435	39777548	18284	20430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429563.2_Missense_Mutation_p.A169T|GATAD2A_ENST00000252577.5_Missense_Mutation_p.A342T|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000360315.3_Missense_Mutation_p.A342T|GATAD2A_ENST00000358713.3_Missense_Mutation_p.A342T			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													68	220					0	0	1	0	0	A	19609351	G	A	19609351	3	1	22	1	0	0	0	0	1	0	0	0	6300	971	34	2	1050	2	GATAD2A	19	19609351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	257916	19609351	39519632	18285	20431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429563.2_Missense_Mutation_p.G378S|GATAD2A_ENST00000252577.5_Missense_Mutation_p.G550S|GATAD2A_ENST00000537887.1_Missense_Mutation_p.G204S|GATAD2A_ENST00000360315.3_Missense_Mutation_p.G575S|GATAD2A_ENST00000358713.3_Missense_Mutation_p.G575S			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													147	591					0	0	1	0	0	A	19613287	G	A	19613287	3	1	22	1	0	0	0	0	1	0	0	0	6300	1116	39	1	1761	1	GATAD2A	19	19613287	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3936	19613287	39515696	18286	20432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	341					8.72158e-25	9.98758e-25	1	1	0	A	19625951	C	A	19625951	3	1	22	1	0	0	0	0	1	0	0	0	16733	884	31	4	539	4	TSSK6	19	19625951	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12664	19625951	39503032	18287	20433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	267					0	0	1	0	0	A	19626064	G	A	19626064	3	1	22	1	0	0	0	0	1	0	0	0	16733	1116	39	1	652	1	TSSK6	19	19626064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113	19626064	39502919	18288	20434											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000291495.4_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													23	838					0	0	1	0	0	A	19650526	G	A	19650526	3	1	22	1	0	0	0	0	1	0	0	0	3452	1232	43	2	109	2	CILP2	19	19650526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24462	19650526	39478457	18289	20435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000291495.4_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													37	197					0	0	1	0	0	T	19655592	C	T	19655592	2	4	22	1	0	0	0	0	0	0	0	1	3452	535	19	1		1	CILP2	19	19655592	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5066	19655592	39473391	18290	20436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19675846T>C	ENST00000251203.8	-	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	274							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						TTCTTGAAACTTCCCCATGTT	0.522													374	1482					0	0	1	0	0	C	19675846	T	C	19675846	3	2	22	1	0	0	0	0	1	0	0	0	11542	1609	56	3	315	3	PBX4	19	19675846	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20254	19675846	39453137	18291	20437											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000586703.1_Silent_p.L161L|LPAR2_ENST00000407877.3_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													28	71					0	0	1	0	0	A	19737613	G	A	19737613	2	1	22	1	0	0	0	0	0	0	0	1	8950	991	35	2		2	LPAR2	19	19737613	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61767	19737613	39391370	18292	20438											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000587238.1_Missense_Mutation_p.P75S|GMIP_ENST00000445806.2_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													4	96					0	0	1	0	0	A	19752634	G	A	19752634	3	1	22	1	0	0	0	0	1	0	0	0	6533	1174	41	2	2761	2	GMIP	19	19752634	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15021	19752634	39376349	18293	20439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	50					0	0	1	0	0	A	19767835	G	A	19767835	3	1	22	1	0	0	0	0	1	0	0	0	1122	1115	39	1	2828	1	ATP13A1	19	19767835	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15201	19767835	39361148	18294	20440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	159					0	0	1	0	0	C	19789533	A	C	19789533	5	2	22	1	0	0	0	0	0	0	1	0	17772	434	15	3	139	3	ZNF101	19	19789533	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21698	19789533	39339450	18295	20441											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	369					0	0	1	0	0	A	19790189	G	A	19790189	3	1	22	1	0	0	0	0	1	0	0	0	17772	1291	45	2	405	2	ZNF101	19	19790189	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	656	19790189	39338794	18296	20442											
ZNF14	7561	broad.mit.edu	37	chr19	19822954	19822954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatgagttctttcatgcaatCgaagagaaatggaccaactg	9	7	2	2	rs3752153	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19822954C>T	ENST00000344099.3	-	4	1274	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	379			R -> Q (in dbSNP:rs3752153).		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)				TTCATGCAATCGAAGAGAAAT	0.373													85	354					0	0	1	0	0	T	19822954	C	T	19822954	3	4	22	1	0	0	0	0	1	0	0	0	17786	884	31	1	796	1	ZNF14	19	19822954	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32765	19822954	39306029	18297	20443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	206					0	0	1	0	0	C	19823186	T	C	19823186	3	2	22	1	0	0	0	0	1	0	0	0	17786	1522	53	3	1028	3	ZNF14	19	19823186	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	232	19823186	39305797	18298	20444											
ZNF626	199777	broad.mit.edu	37	chr19	20807526	20807526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtatgaattatcttatgcGtagtaaggtctgaagaccgc	10	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20807526G>A	ENST00000601440.1	-	4	1303	c.1157C>T	c.(1156-1158)aCg>aTg	p.T386M	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TATCTTATGCGTAGTAAGGTC	0.383													72	334					0	0	1	0	0	A	20807526	G	A	20807526	3	1	22	1	0	0	0	0	1	0	0	0	18107	1145	40	1	433	1	ZNF626	19	20807526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	984340	20807526	38321457	18299	20445											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	212					0	0	1	0	0	C	20808152	T	C	20808152	2	2	22	1	0	0	0	0	0	0	0	1	18107	1490	52	3		3	ZNF626	19	20808152	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	626	20808152	38320831	18300	20446											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000345030.6_Silent_p.G84G|ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000328178.8_Silent_p.G117G			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													57	288					1.67886e-27	1.94484e-27	1	1	0	A	21131671	C	A	21131671	2	1	22	1	0	0	0	0	0	0	0	1	18237	784	28	2		2	ZNF85	19	21131671	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	323519	21131671	37997312	18301	20447											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000345030.6_Silent_p.N179N|ZNF85_ENST00000328178.8_Silent_p.N212N			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													58	198					0	0	1	0	0	T	21131956	C	T	21131956	2	4	22	1	0	0	0	0	0	0	0	1	18237	564	20	2		2	ZNF85	19	21131956	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	285	21131956	37997027	18302	20448											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000345030.6_Missense_Mutation_p.S209P|ZNF85_ENST00000328178.8_Missense_Mutation_p.S242P			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													36	196					0	0	1	0	0	C	21132044	T	C	21132044	3	2	22	1	0	0	0	0	1	0	0	0	18237	1667	58	3	738	3	ZNF85	19	21132044	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88	21132044	37996939	18303	20449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000345030.6_Nonsense_Mutation_p.R236*|ZNF85_ENST00000328178.8_Nonsense_Mutation_p.R269*			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													40	175					0	0	1	0	0	T	21132125	C	T	21132125	4	4	22	1	0	0	0	0	0	1	0	0	18237	644	23	1	819	1	ZNF85	19	21132125	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81	21132125	37996858	18304	20450											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000345030.6_Missense_Mutation_p.Y365C|ZNF85_ENST00000328178.8_Missense_Mutation_p.Y398C			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													14	125					0	0	1	0	0	G	21132513	A	G	21132513	3	3	22	1	0	0	0	0	1	0	0	0	18237	391	14	3	1207	3	ZNF85	19	21132513	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	388	21132513	37996470	18305	20451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000345030.6_Missense_Mutation_p.Y477C|ZNF85_ENST00000328178.8_Missense_Mutation_p.Y510C			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													40	174					0	0	1	0	0	G	21132849	A	G	21132849	3	3	22	1	0	0	0	0	1	0	0	0	18237	391	14	3	1543	3	ZNF85	19	21132849	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	336	21132849	37996134	18306	20452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	472					0	0	1	0	0	A	21205649	G	A	21205649	3	1	22	1	0	0	0	0	1	0	0	0	17961	1203	42	2	64	2	ZNF430	19	21205649	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72800	21205649	37923334	18307	20453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	150					0	0	1	0	0	G	21239790	A	G	21239790	3	3	22	1	0	0	0	0	1	0	0	0	17961	101	4	3	694	3	ZNF430	19	21239790	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34141	21239790	37889193	18308	20454											
ZNF430	80264	broad.mit.edu	37	chr19	21240602	21240602	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcaaagcttttaaccaAttctcaaaccttactaaaca	4	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21240602A>C	ENST00000261560.5	+	5	1669	c.1488A>C	c.(1486-1488)caA>caC	p.Q496H		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	496					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						CTTTTAACCAATTCTCAAACC	0.363													39	169					0	0	1	0	0	C	21240602	A	C	21240602	3	2	22	1	0	0	0	0	1	0	0	0	17961	98	4	3	1506	3	ZNF430	19	21240602	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	812	21240602	37888381	18309	20455											
ZNF708	7562	broad.mit.edu	37	chr19	21476148	21476148	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtttggggactggttaaaGgctttgccacattcttcaca	11	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21476148G>T	ENST00000356929.3	-	4	1817	c.1620C>A	c.(1618-1620)gcC>gcA	p.A540A		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	540					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						ACTGGTTAAAGGCTTTGCCAC	0.348													58	303					2.41709e-19	2.69562e-19	1	1	0	T	21476148	G	T	21476148	2	4	22	1	0	0	0	0	0	0	0	1	18168	987	35	2		2	ZNF708	19	21476148	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	235546	21476148	37652835	18310	20456											
ZNF708	7562	broad.mit.edu	37	chr19	21476283	21476283	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctctccagtatgaattatCttatgtgtagtaagatgaga	8	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21476283C>T	ENST00000356929.3	-	4	1682	c.1485G>A	c.(1483-1485)aaG>aaA	p.K495K		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	495					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						TATGAATTATCTTATGTGTAG	0.333													74	247					0	0	1	0	0	T	21476283	C	T	21476283	2	4	22	1	0	0	0	0	0	0	0	1	18168	912	32	2		2	ZNF708	19	21476283	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135	21476283	37652700	18311	20457											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	302					0	0	1	0	0	A	21476977	G	A	21476977	3	1	22	1	0	0	0	0	1	0	0	0	18168	1174	41	2	904	2	ZNF708	19	21476977	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	694	21476977	37652006	18312	20458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	631					6.01805e-51	7.46351e-51	1	1	0	T	21492088	G	T	21492088	2	4	22	1	0	0	0	0	0	0	0	1	18168	987	35	2		2	ZNF708	19	21492088	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15111	21492088	37636895	18313	20459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	384					6.83469e-46	8.38912e-46	1	1	0	T	21605913	G	T	21605913	3	4	22	1	0	0	0	0	1	0	0	0	18001	971	34	2	529	2	ZNF493	19	21605913	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113825	21605913	37523070	18314	20460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	201					0	0	1	0	0	C	21719209	A	C	21719209	3	2	22	1	0	0	0	0	1	0	0	0	17959	11	1	3	368	3	ZNF429	19	21719209	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	113296	21719209	37409774	18315	20461											
ZNF429	353088	broad.mit.edu	37	chr19	21720670	21720670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagcttttaatcggtcCtcaagacttactcaacataa	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21720670C>T	ENST00000358491.4	+	4	2023	c.1815C>T	c.(1813-1815)tcC>tcT	p.S605S	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	605					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						TTAATCGGTCCTCAAGACTTA	0.373													75	253					0	0	1	0	0	T	21720670	C	T	21720670	2	4	22	1	0	0	0	0	0	0	0	1	17959	668	24	2		2	ZNF429	19	21720670	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1461	21720670	37408313	18316	20462											
ZNF100	163227	broad.mit.edu	37	chr19	21909803	21909803	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtttgaggactcattaaaAgctttgccacattcttcaca	7	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21909803A>C	ENST00000358296.6	-	5	1509	c.1311T>G	c.(1309-1311)gcT>gcG	p.A437A	ZNF100_ENST00000305570.6_Silent_p.A373A	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	437					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						ACTCATTAAAAGCTTTGCCAC	0.423													85	360					0	0	1	0	0	C	21909803	A	C	21909803	2	2	22	1	0	0	0	0	0	0	0	1	17771	59	3	3		3	ZNF100	19	21909803	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	189133	21909803	37219180	18317	20463											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	219					0	0	1	0	0	A	21910465	G	A	21910465	3	1	22	1	0	0	0	0	1	0	0	0	17771	971	34	2	983	2	ZNF100	19	21910465	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	662	21910465	37218518	18318	20464											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354959.4_Missense_Mutation_p.I643F|ZNF43_ENST00000598381.1_Missense_Mutation_p.I637F	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													13	276					0	0	1	0	0	A	21990912	T	A	21990912	3	1	22	1	0	0	0	0	1	0	0	0	17960	1493	52	5	506	5	ZNF43	19	21990912	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	80447	21990912	37138071	18319	20465											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354959.4_Missense_Mutation_p.A602T|ZNF43_ENST00000598381.1_Missense_Mutation_p.A596T	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													42	204					0	0	1	0	0	T	21991035	C	T	21991035	3	4	22	1	0	0	0	0	1	0	0	0	17960	797	28	2	629	2	ZNF43	19	21991035	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123	21991035	37137948	18320	20466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_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													131	579					0	0	1	0	0	T	22154655	C	T	22154655	3	4	22	1	0	0	0	0	1	0	0	0	17824	922	32	2	665	2	ZNF208	19	22154655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163620	22154655	36974328	18321	20467											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_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													23	256					0	0	1	0	0	T	22155498	C	T	22155498	3	4	22	1	0	0	0	0	1	0	0	0	17824	835	29	2	1508	2	ZNF208	19	22155498	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	843	22155498	36973485	18322	20468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_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													39	280					0	0	1	0	0	G	22156630	A	G	22156630	2	3	22	1	0	0	0	0	0	0	0	1	17824	157	6	3		3	ZNF208	19	22156630	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1132	22156630	36972353	18323	20469											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	204					1.22674e-20	1.37621e-20	1	1	0	T	22270975	G	T	22270975	3	4	22	1	0	0	0	0	1	0	0	0	17858	933	33	2	437	2	ZNF257	19	22270975	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114345	22270975	36858008	18324	20470											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	421					0	0	1	0	0	G	22363338	T	G	22363338	3	3	22	1	0	0	0	0	1	0	0	0	18140	1841	64	3	589	3	ZNF676	19	22363338	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	92363	22363338	36765645	18325	20471											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	505					0	0	1	0	0	T	22363492	C	T	22363492	3	4	22	1	0	0	0	0	1	0	0	0	18140	652	23	1	743	1	ZNF676	19	22363492	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154	22363492	36765491	18326	20472											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	351					0	0	1	0	0	G	22363697	A	G	22363697	2	3	22	1	0	0	0	0	0	0	0	1	18140	242	9	3		3	ZNF676	19	22363697	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	205	22363697	36765286	18327	20473											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	119					0	0	1	0	0	A	22817139	G	A	22817139	1	1	22	1	0	0	0	0	0	0	0	0	18000	1102	38	1		1	ZNF492	19	22817139	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	453442	22817139	36311844	18328	20474											
ZNF492	57615	broad.mit.edu	37	chr19	22846684	22846685	+	Frame_Shift_Ins	INS	-	-	A													aagtgatactgagaagatatINSaaaaaatgtggatgtgaaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22846684_22846685insA	ENST00000456783.2	+	4	457_458	c.213_214insA	c.(211-216)taaaaafs	p.*K71fs		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	71					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)				TGAGAAGATATAAAAAATGTGG	0.317													16	75	---	---	---	---						A	22846685	-	A	22846684	7	5	22	1	0	1	1	0	0	0	0	0	18000	1413	49	0	223	0	ZNF492	19	22846684	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	29545	22846684	36282299	18329	20475											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	295					0	0	1	0	0	A	22847667	G	A	22847667	3	1	22	1	0	0	0	0	1	0	0	0	18000	1203	42	2	1206	2	ZNF492	19	22847667	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	983	22847667	36281316	18330	20476											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	309					3.73988e-18	4.14332e-18	1	1	0	A	22847718	C	A	22847718	3	1	22	1	0	0	0	0	1	0	0	0	18000	565	20	2	1257	2	ZNF492	19	22847718	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51	22847718	36281265	18331	20477											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	345					6.38683e-12	6.83756e-12	1	1	0	A	22847814	C	A	22847814	3	1	22	1	0	0	0	0	1	0	0	0	18000	623	22	2	1353	2	ZNF492	19	22847814	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96	22847814	36281169	18332	20478											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	282					0	0	1	0	0	G	22941527	T	G	22941527	3	3	22	1	0	0	0	0	1	0	0	0	18246	1841	64	3	2213	3	ZNF99	19	22941527	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	93713	22941527	36187456	18333	20479											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	390					0	0	1	0	0	G	22941668	T	G	22941668	3	3	22	1	0	0	0	0	1	0	0	0	18246	1841	64	3	2354	3	ZNF99	19	22941668	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	141	22941668	36187315	18334	20480											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	455					1.55521e-42	1.89442e-42	1	1	0	T	23544948	G	T	23544948	3	4	22	1	0	0	0	0	1	0	0	0	18242	1174	41	2	2746	2	ZNF91	19	23544948	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	603280	23544948	35584035	18335	20481											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	282					0	0	1	0	0	G	23545140	T	G	23545140	3	3	22	1	0	0	0	0	1	0	0	0	18242	1783	62	3	2938	3	ZNF91	19	23545140	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	192	23545140	35583843	18336	20482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	386					0	0	1	0	0	G	23545395	A	G	23545395	3	3	22	1	0	0	0	0	1	0	0	0	18242	159	6	3	3193	3	ZNF91	19	23545395	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	255	23545395	35583588	18337	20483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_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													14	338					0	0	1	0	0	T	23836530	C	T	23836530	3	4	22	1	0	0	0	0	1	0	0	0	18139	739	26	2	505	2	ZNF675	19	23836530	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	291135	23836530	35292453	18338	20484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_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													18	174					0	0	1	0	0	C	23837503	A	C	23837503	3	2	22	1	0	0	0	0	1	0	0	0	18139	159	6	3	1478	3	ZNF675	19	23837503	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	973	23837503	35291480	18339	20485											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600313.1_Missense_Mutation_p.A10V|ZNF675_ENST00000596211.1_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													123	590					0	0	1	0	0	A	23845935	G	A	23845935	3	1	22	1	0	0	0	0	1	0	0	0	18139	1203	42	2	1689	2	ZNF675	19	23845935	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8432	23845935	35283048	18340	20486											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	301					0	0	1	0	0	A	23927387	G	A	23927387	3	1	22	1	0	0	0	0	1	0	0	0	18144	1174	41	2	976	2	ZNF681	19	23927387	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81452	23927387	35201596	18341	20487											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	634					0	0	1	0	0	A	24289407	G	A	24289407	4	1	22	1	0	0	0	0	0	1	0	0	17856	1357	47	2	225	2	ZNF254	19	24289407	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	362020	24289407	34839576	18342	20488											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	599					0	0	1	0	0	G	29698753	A	G	29698753	3	3	22	1	0	0	0	0	1	0	0	0	17081	159	6	3	301	3	UQCRFS1	19	29698753	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5409346	29698753	29430230	18343	20489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000592153.1_Missense_Mutation_p.P72L|C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000392278.2_Missense_Mutation_p.P83L|C19orf12_ENST00000392276.1_Missense_Mutation_p.P8L	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													109	602					0	0	1	0	0	A	30193830	G	A	30193830	3	1	22	1	0	0	0	0	1	0	0	0	1921	1116	39	1	214	1	C19orf12	19	30193830	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	495077	30193830	28935153	18344	20490											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000592153.1_Missense_Mutation_p.V25I|C19orf12_ENST00000392275.1_Intron|C19orf12_ENST00000392278.2_Missense_Mutation_p.V36I|C19orf12_ENST00000392276.1_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													100	366					0	0	1	0	0	T	30199248	C	T	30199248	3	4	22	1	0	0	0	0	1	0	0	0	1921	478	17	2	360	2	C19orf12	19	30199248	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5418	30199248	28929735	18345	20491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357943.5_Missense_Mutation_p.Y210C|CCNE1_ENST00000444983.2_Missense_Mutation_p.Y238C	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								167	682					0	0	1	0	0	G	30312955	A	G	30312955	3	3	22	1	0	0	0	0	1	0	0	0	2942	391	14	3	788	3	CCNE1	19	30312955	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	113707	30312955	28816028	18346	20492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357943.5_Silent_p.V243V|CCNE1_ENST00000444983.2_Silent_p.V271V	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								144	628					1.46275e-61	1.84202e-61	1	1	0	A	30313164	C	A	30313164	2	1	22	1	0	0	0	0	0	0	0	1	2942	842	30	2		2	CCNE1	19	30313164	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209	30313164	28815819	18347	20493											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357943.5_Silent_p.C279C|CCNE1_ENST00000444983.2_Silent_p.C307C	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								117	500					0	0	1	0	0	T	30313366	C	T	30313366	2	4	22	1	0	0	0	0	0	0	0	1	2942	776	27	1		1	CCNE1	19	30313366	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202	30313366	28815617	18348	20494											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	285					0	0	1	0	0	A	30934897	G	A	30934897	3	1	22	1	0	0	0	0	1	0	0	0	18031	971	34	2	430	2	ZNF536	19	30934897	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	621531	30934897	28194086	18349	20495											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	98					0	0	1	0	0	T	30935229	C	T	30935229	3	4	22	1	0	0	0	0	1	0	0	0	18031	623	22	2	762	2	ZNF536	19	30935229	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	332	30935229	28193754	18350	20496											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	372					3.6518e-20	4.08764e-20	1	1	0	A	30935664	C	A	30935664	3	1	22	1	0	0	0	0	1	0	0	0	18031	796	28	2	1197	2	ZNF536	19	30935664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	435	30935664	28193319	18351	20497											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	316					0	0	1	0	0	T	31040060	C	T	31040060	2	4	22	1	0	0	0	0	0	0	0	1	18031	535	19	1		1	ZNF536	19	31040060	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104396	31040060	28088923	18352	20498											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	301					0	0	1	0	0	A	31767496	G	A	31767496	3	1	22	1	0	0	0	0	1	0	0	0	16686	1116	39	1	46	1	TSHZ3	19	31767496	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	727436	31767496	27361487	18353	20499											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													148	522					0	0	1	0	0	A	31768179	G	A	31768179	2	1	22	1	0	0	0	0	0	0	0	1	16686	1074	38	1		1	TSHZ3	19	31768179	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	683	31768179	27360804	18354	20500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	353					0	0	1	0	0	A	31770107	G	A	31770107	3	1	22	1	0	0	0	0	1	0	0	0	16686	1115	39	1	2657	1	TSHZ3	19	31770107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1928	31770107	27358876	18355	20501											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392250.2_Missense_Mutation_p.S501N|DPY19L3_ENST00000586987.1_Missense_Mutation_p.S501N|DPY19L3_ENST00000590651.1_3'UTR	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													148	660					0	0	1	0	0	A	32954831	G	A	32954831	3	1	22	1	0	0	0	0	1	0	0	0	4768	971	34	2	1552	2	DPY19L3	19	32954831	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1184724	32954831	26174152	18356	20502											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392250.2_Silent_p.Y634Y|DPY19L3_ENST00000586987.1_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													9	284					0	0	1	0	0	T	32971376	C	T	32971376	2	4	22	1	0	0	0	0	0	0	0	1	4768	547	19	1		1	DPY19L3	19	32971376	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16545	32971376	26157607	18357	20503											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33076792A>T	ENST00000590247.1	+	4	431	c.237A>T	c.(235-237)agA>agT	p.R79S	PDCD5_ENST00000586035.1_Missense_Mutation_p.R41S|PDCD5_ENST00000592786.1_Intron|PDCD5_ENST00000379316.3_Intron	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	79					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													72	303					0	0	1	0	0	T	33076792	A	T	33076792	3	4	22	1	0	0	0	0	1	0	0	0	11669	330	12	5	251	5	PDCD5	19	33076792	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	105416	33076792	26052191	18358	20504											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	105					0	0	1	0	0	T	33167833	C	T	33167833	2	4	22	1	0	0	0	0	0	0	0	1	13364	796	28	2		2	RGS9BP	19	33167833	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91041	33167833	25961150	18359	20505											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	237					0	0	1	0	0	A	33183175	G	A	33183175	2	1	22	1	0	0	0	0	0	0	0	1	10784	1074	38	1		1	NUDT19	19	33183175	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15342	33183175	25945808	18360	20506											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	374					0	0	1	0	0	C	33200284	T	C	33200284	3	2	22	1	0	0	0	0	1	0	0	0	10784	1667	58	3	914	3	NUDT19	19	33200284	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17109	33200284	25928699	18361	20507											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	591					0	0	1	0	0	T	33202821	C	T	33202821	2	4	22	1	0	0	0	0	0	0	0	1	10784	535	19	1		1	NUDT19	19	33202821	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2537	33202821	25926162	18362	20508											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000587772.1_Missense_Mutation_p.V62M|SLC7A9_ENST00000590341.1_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													144	645					0	0	1	0	0	T	33355586	C	T	33355586	3	4	22	1	0	0	0	0	1	0	0	0	14760	478	17	2	1323	2	SLC7A9	19	33355586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152765	33355586	25773397	18363	20509											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000587772.1_Silent_p.G47G|SLC7A9_ENST00000590341.1_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													169	779					0	0	1	0	0	T	33355629	C	T	33355629	2	4	22	1	0	0	0	0	0	0	0	1	14760	842	30	2		2	SLC7A9	19	33355629	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43	33355629	25773354	18364	20510											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					22	825					0	0	1	0	0	A	33464384	G	A	33464384	2	1	22	1	0	0	0	0	0	0	0	1	1935	1045	37	1		1	C19orf40	19	33464384	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108755	33464384	25664599	18365	20511											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	355					0	0	1	0	0	A	33486990	G	A	33486990	2	1	22	1	0	0	0	0	0	0	0	1	13401	1140	40	1		1	RHPN2	19	33486990	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22606	33486990	25641993	18366	20512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													170	933					0	0	1	0	0	T	33588747	C	T	33588747	2	4	22	1	0	0	0	0	0	0	0	1	6630	535	19	1		1	GPATCH1	19	33588747	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101757	33588747	25540236	18367	20513											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	434					4.10826e-27	4.75084e-27	1	1	0	T	33647385	G	T	33647385	3	4	22	1	0	0	0	0	1	0	0	0	17395	971	34	2	960	2	WDR88	19	33647385	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58638	33647385	25481598	18368	20514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	71					0	0	1	0	0	A	33696342	G	A	33696342	2	1	22	1	0	0	0	0	0	0	0	1	9003	1074	38	1		1	LRP3	19	33696342	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48957	33696342	25432641	18369	20515											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	88					0	0	1	0	0	C	33696652	T	C	33696652	3	2	22	1	0	0	0	0	1	0	0	0	9003	1667	58	3	994	3	LRP3	19	33696652	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	310	33696652	25432331	18370	20516											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33701722C>A	ENST00000253188.3	-	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	367					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													125	507					8.20597e-53	1.02137e-52	1	1	0	A	33701722	C	A	33701722	3	1	22	1	0	0	0	0	1	0	0	0	14748	768	27	4	488	4	SLC7A10	19	33701722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5070	33701722	25427261	18371	20517											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33706682G>T	ENST00000253188.3	-	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	117					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													3	19					0.004672	0.00470394	1	1	0	T	33706682	G	T	33706682	3	4	22	1	0	0	0	0	1	0	0	0	14748	991	35	2	1262	2	SLC7A10	19	33706682	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4960	33706682	25422301	18372	20518											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263210C>T	ENST00000262622.3	+	4	1275	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	CHST8_ENST00000434302.1_Missense_Mutation_p.R173C|CHST8_ENST00000438847.2_Missense_Mutation_p.R173C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	173					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													44	169					0	0	1	0	0	T	34263210	C	T	34263210	3	4	22	1	0	0	0	0	1	0	0	0	3432	652	23	1	527	1	CHST8	19	34263210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	556528	34263210	24865773	18373	20519											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263465C>T	ENST00000262622.3	+	4	1530	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	CHST8_ENST00000434302.1_Missense_Mutation_p.R258C|CHST8_ENST00000438847.2_Missense_Mutation_p.R258C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	258					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													113	487					0	0	1	0	0	T	34263465	C	T	34263465	3	4	22	1	0	0	0	0	1	0	0	0	3432	652	23	1	782	1	CHST8	19	34263465	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255	34263465	24865518	18374	20520											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263870G>A	ENST00000262622.3	+	4	1935	c.1177G>A	c.(1177-1179)Gcc>Acc	p.A393T	CHST8_ENST00000434302.1_Missense_Mutation_p.A393T|CHST8_ENST00000438847.2_Missense_Mutation_p.A393T	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	393					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													53	203					0	0	1	0	0	A	34263870	G	A	34263870	3	1	22	1	0	0	0	0	1	0	0	0	3432	1087	38	1	1187	1	CHST8	19	34263870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	405	34263870	24865113	18375	20521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433627.5_Missense_Mutation_p.A39V|LSM14A_ENST00000540746.2_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													17	94					0	0	1	0	0	T	34663663	C	T	34663663	3	4	22	1	0	0	0	0	1	0	0	0	9099	739	26	2	118	2	LSM14A	19	34663663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	399793	34663663	24465320	18376	20522											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433627.5_Missense_Mutation_p.R272C|LSM14A_ENST00000540746.2_Missense_Mutation_p.R231C	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													86	532					0	0	1	0	0	T	34710328	C	T	34710328	3	4	22	1	0	0	0	0	1	0	0	0	9099	768	27	1	840	1	LSM14A	19	34710328	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46665	34710328	24418655	18377	20523											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433627.5_Silent_p.A351A|LSM14A_ENST00000540746.2_Silent_p.A310A	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													36	138					0	0	1	0	0	T	34710699	C	T	34710699	2	4	22	1	0	0	0	0	0	0	0	1	9099	639	23	1		1	LSM14A	19	34710699	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	371	34710699	24418284	18378	20524											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	255					7.25294e-45	8.88171e-45	1	1	0	A	34791678	C	A	34791678	2	1	22	1	0	0	0	0	0	0	0	1	8212	900	32	2		2	KIAA0355	19	34791678	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80979	34791678	24337305	18379	20525											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	534					0	0	1	0	0	T	34832959	C	T	34832959	3	4	22	1	0	0	0	0	1	0	0	0	8212	710	25	2	2154	2	KIAA0355	19	34832959	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41281	34832959	24296024	18380	20526											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000586425.1_Missense_Mutation_p.A337T|GPI_ENST00000356487.5_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													20	514					0	0	1	0	0	A	34884918	G	A	34884918	3	1	22	1	0	0	0	0	1	0	0	0	6651	1087	38	1	1176	1	GPI	19	34884918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51959	34884918	24244065	18381	20527											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000586425.1_Missense_Mutation_p.G387D|GPI_ENST00000356487.5_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													62	277					0	0	1	0	0	A	34887303	G	A	34887303	3	1	22	1	0	0	0	0	1	0	0	0	6651	1203	42	2	1331	2	GPI	19	34887303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2385	34887303	24241680	18382	20528											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	28					4.7546e-09	4.99022e-09	1	1	0	T	34925772	G	T	34925772	5	4	22	1	0	0	0	0	0	0	1	0	16889	985	34	2	376	2	UBA2	19	34925772	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38469	34925772	24203211	18383	20529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000246548.4_Missense_Mutation_p.D541G|UBA2_ENST00000592791.1_Missense_Mutation_p.D67G			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													28	178					0	0	1	0	0	G	34957800	A	G	34957800	3	3	22	1	0	0	0	0	1	0	0	0	16889	275	10	3	1684	3	UBA2	19	34957800	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32028	34957800	24171183	18384	20530											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	141					7.01153e-11	7.45501e-11	1	1	0	T	34991053	G	T	34991053	3	4	22	1	0	0	0	0	1	0	0	0	17470	971	34	2	1202	2	WTIP	19	34991053	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33253	34991053	24137930	18385	20531											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	461					0	0	1	0	0	T	35449350	C	T	35449350	3	4	22	1	0	0	0	0	1	0	0	0	18213	884	31	1	493	1	ZNF792	19	35449350	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	458297	35449350	23679633	18386	20532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000317991.5_Missense_Mutation_p.R139H|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R139H			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													28	731					0	0	1	0	0	A	35501086	G	A	35501086	1	1	22	1	0	0	0	0	0	0	0	0	6788	1087	38	1		1	GRAMD1A	19	35501086	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51736	35501086	23627897	18387	20533											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	39					0	0	1	0	0	T	35550662	C	T	35550662	2	4	22	1	0	0	0	0	0	0	0	1	7377	535	19	1		1	HPN	19	35550662	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49576	35550662	23578321	18388	20534											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	194					2.23044e-30	2.6157e-30	1	1	0	T	35616231	G	T	35616231	3	4	22	1	0	0	0	0	1	0	0	0	8794	962	34	2	137	2	LGI4	19	35616231	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65569	35616231	23512752	18389	20535											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543307.1_Silent_p.I155I|FXYD5_ENST00000541435.2_Silent_p.I155I|FXYD5_ENST00000423817.3_Silent_p.I155I|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000392217.3_Silent_p.I84I|FXYD5_ENST00000590686.1_Silent_p.I155I|FXYD5_ENST00000392219.2_Silent_p.I155I|FXYD5_ENST00000588699.1_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													14	891					0	0	1	0	0	T	35657206	C	T	35657206	2	4	22	1	0	0	0	0	0	0	0	1	6156	816	29	2		2	FXYD5	19	35657206	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40975	35657206	23471777	18390	20536											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544992.2_Missense_Mutation_p.S729I|CD22_ENST00000419549.2_Missense_Mutation_p.S557I|CD22_ENST00000536635.2_Missense_Mutation_p.S641I|CD22_ENST00000270311.6_Intron|CD22_ENST00000594250.1_Missense_Mutation_p.S552I|CD22_ENST00000341773.6_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													71	381					1.34568e-36	1.61182e-36	1	1	0	T	35836007	G	T	35836007	3	4	22	1	0	0	0	0	1	0	0	0	3007	971	34	2	2224	2	CD22	19	35836007	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178801	35836007	23292976	18391	20537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544992.2_3'UTR|CD22_ENST00000419549.2_Missense_Mutation_p.D641Y|CD22_ENST00000536635.2_Missense_Mutation_p.D725Y|CD22_ENST00000270311.6_Missense_Mutation_p.D628Y|CD22_ENST00000594250.1_Missense_Mutation_p.D636Y|CD22_ENST00000341773.6_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													11	54					2.80697e-09	2.95087e-09	1	1	0	T	35837493	G	T	35837493	3	4	22	1	0	0	0	0	1	0	0	0	3007	942	33	2	2487	2	CD22	19	35837493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1486	35837493	23291490	18392	20538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	200					0	0	1	0	0	A	35850667	G	A	35850667	3	1	22	1	0	0	0	0	1	0	0	0	5862	1000	35	2	877	2	FFAR3	19	35850667	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13174	35850667	23278316	18393	20539											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	97					0	0	1	0	0	A	36018273	G	A	36018273	3	1	22	1	0	0	0	0	1	0	0	0	13917	1087	38	1	877	1	SBSN	19	36018273	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	167606	36018273	23110710	18394	20540											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	119					7.33532e-06	7.53121e-06	1	1	0	A	36029283	C	A	36029283	3	1	22	1	0	0	0	0	1	0	0	0	6277	594	21	2	330	2	GAPDHS	19	36029283	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11010	36029283	23099700	18395	20541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	199					0	0	1	0	0	A	36033285	G	A	36033285	3	1	22	1	0	0	0	0	1	0	0	0	6277	1145	40	1	532	1	GAPDHS	19	36033285	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4002	36033285	23095698	18396	20542											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	211					0	0	1	0	0	T	36037431	C	T	36037431	2	4	22	1	0	0	0	0	0	0	0	1	16121	796	28	2		2	TMEM147	19	36037431	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4146	36037431	23091552	18397	20543											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	255					0	0	1	0	0	T	36046143	C	T	36046143	3	4	22	1	0	0	0	0	1	0	0	0	1144	913	32	2	888	2	ATP4A	19	36046143	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8712	36046143	23082840	18398	20544											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													170	850					0	0	1	0	0	A	36050049	G	A	36050049	2	1	22	1	0	0	0	0	0	0	0	1	1144	1079	38	1		1	ATP4A	19	36050049	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3906	36050049	23078934	18399	20545											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	221					1.46156e-29	1.70844e-29	1	1	0	T	36050771	G	T	36050771	3	4	22	1	0	0	0	0	1	0	0	0	1144	1203	42	2	2179	2	ATP4A	19	36050771	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	722	36050771	23078212	18400	20546											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36053540C>T	ENST00000262623.3	-	4	245	c.216_splice	c.e4-1	p.G73_splice		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													11	60					0	0	1	0	0	T	36053540	C	T	36053540	5	4	22	1	0	0	0	0	0	0	1	0	1144	637	22	2	2966	2	ATP4A	19	36053540	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2769	36053540	23075443	18401	20547											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													186	728					0	0	1	0	0	T	36054427	C	T	36054427	2	4	22	1	0	0	0	0	0	0	0	1	1144	912	32	2		2	ATP4A	19	36054427	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	887	36054427	23074556	18402	20548											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	139					1.26454e-06	1.30625e-06	1	1	0	T	36106154	G	T	36106154	3	4	22	1	0	0	0	0	1	0	0	0	7010	962	34	2	373	2	HAUS5	19	36106154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51727	36106154	23022829	18403	20549											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	321					0	0	1	0	0	A	36109545	G	A	36109545	2	1	22	1	0	0	0	0	0	0	0	1	7010	962	34	2		2	HAUS5	19	36109545	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3391	36109545	23019438	18404	20550											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	301					2.68265e-12	2.87809e-12	1	1	0	T	36109792	G	T	36109792	3	4	22	1	0	0	0	0	1	0	0	0	7010	991	35	2	1070	2	HAUS5	19	36109792	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	247	36109792	23019191	18405	20551											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	355					0	0	1	0	0	T	36113851	C	T	36113851	3	4	22	1	0	0	0	0	1	0	0	0	7010	768	27	1	1932	1	HAUS5	19	36113851	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4059	36113851	23015132	18406	20552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588161.1_Missense_Mutation_p.L434M|RBM42_ENST00000589559.1_Missense_Mutation_p.L370M|RBM42_ENST00000589871.1_Missense_Mutation_p.L442M|RBM42_ENST00000586618.1_Missense_Mutation_p.L168M|RBM42_ENST00000360475.4_Missense_Mutation_p.L435M	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													46	263					2.215e-12	2.3786e-12	1	1	0	A	36128403	C	A	36128403	3	1	22	1	0	0	0	0	1	0	0	0	13188	912	32	2	1428	2	RBM42	19	36128403	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14552	36128403	23000580	18407	20553											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	41					0.000673444	0.000681208	1	1	0	T	36134268	G	T	36134268	3	4	22	1	0	0	0	0	1	0	0	0	5306	1232	43	2	342	2	ETV2	19	36134268	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5865	36134268	22994715	18408	20554											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	247					0	0	1	0	0	T	36166803	C	T	36166803	3	4	22	1	0	0	0	0	1	0	0	0	17067	768	27	1	548	1	UPK1A	19	36166803	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32535	36166803	22962180	18409	20555											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	159					0	0	1	0	0	G	36168745	A	G	36168745	3	3	22	1	0	0	0	0	1	0	0	0	17067	275	10	3	702	3	UPK1A	19	36168745	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1942	36168745	22960238	18410	20556											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	217					1.57019e-19	1.75207e-19	1	1	0	T	36205967	G	T	36205967	4	4	22	1	0	0	0	0	0	1	0	0	17594	943	33	2	441	2	ZBTB32	19	36205967	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37222	36205967	22923016	18411	20557											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_061977.1	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													58	244					0	0	1	0	0	T	36245052	C	T	36245052	2	4	22	1	0	0	0	0	0	0	0	1	8848	535	19	1		1	LIN37	19	36245052	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39085	36245052	22883931	18412	20558											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000421853.2_Missense_Mutation_p.S37Y|C19orf55_ENST00000537459.1_Missense_Mutation_p.S137Y|C19orf55_ENST00000536950.1_Missense_Mutation_p.S137Y|C19orf55_ENST00000396908.4_Missense_Mutation_p.S137Y			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													38	161					7.04047e-22	7.94894e-22	1	1	0	A	36253018	C	A	36253018	3	1	22	1	0	0	0	0	1	0	0	0	1949	913	32	2	424	2	C19orf55	19	36253018	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7966	36253018	22875965	18413	20559											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000314737.5_Missense_Mutation_p.A742T|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A767T			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													67	264					0	0	1	0	0	A	36278174	G	A	36278174	3	1	22	1	0	0	0	0	1	0	0	0	879	1203	42	2	2789	2	ARHGAP33	19	36278174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25156	36278174	22850809	18414	20560											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	177					0	0	1	0	0	A	36332624	G	A	36332624	2	1	22	1	0	0	0	0	0	0	0	1	10629	1277	45	2		2	NPHS1	19	36332624	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54450	36332624	22796359	18415	20561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	393					0	0	1	0	0	T	36339215	C	T	36339215	3	4	22	1	0	0	0	0	1	0	0	0	10629	739	26	2	2550	2	NPHS1	19	36339215	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6591	36339215	22789768	18416	20562											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	406					0	0	1	0	0	G	36339963	T	G	36339963	3	3	22	1	0	0	0	0	1	0	0	0	10629	1606	56	3	2886	3	NPHS1	19	36339963	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	748	36339963	22789020	18417	20563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	179					0	0	1	0	0	T	36340237	C	T	36340237	4	4	22	1	0	0	0	0	0	1	0	0	10629	740	26	2	3076	2	NPHS1	19	36340237	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	274	36340237	22788746	18418	20564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000586102.2_Missense_Mutation_p.A62T|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000262625.7_Missense_Mutation_p.A62T|KIRREL2_ENST00000592409.1_Missense_Mutation_p.A62T|NPHS1_ENST00000591817.1_Intron	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													112	467					0	0	1	0	0	A	36348369	G	A	36348369	3	1	22	1	0	0	0	0	1	0	0	0	8368	1203	42	2	190	2	KIRREL2	19	36348369	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8132	36348369	22780614	18419	20565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000586102.2_Silent_p.L159L|KIRREL2_ENST00000347900.6_Silent_p.L109L|KIRREL2_ENST00000262625.7_Silent_p.L159L|KIRREL2_ENST00000592409.1_Silent_p.L159L|NPHS1_ENST00000591817.1_Intron	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													108	479					0	0	1	0	0	T	36349719	C	T	36349719	2	4	22	1	0	0	0	0	0	0	0	1	8368	796	28	2		2	KIRREL2	19	36349719	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1350	36349719	22779264	18420	20566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000586102.2_Missense_Mutation_p.R252H|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R222H|KIRREL2_ENST00000262625.7_Missense_Mutation_p.R272H|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R272H|NPHS1_ENST00000591817.1_Intron	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													115	431					0	0	1	0	0	A	36351456	G	A	36351456	3	1	22	1	0	0	0	0	1	0	0	0	8368	1087	38	1	841	1	KIRREL2	19	36351456	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1737	36351456	22777527	18421	20567											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36355551G>A	ENST00000360202.5	+	14	1925	c.1725_splice	c.e14-1	p.G576_splice	KIRREL2_ENST00000586102.2_Splice_Site_p.G556_splice|KIRREL2_ENST00000347900.6_Splice_Site_p.G526_splice|KIRREL2_ENST00000262625.7_Splice_Site_p.G576_splice|KIRREL2_ENST00000592409.1_Splice_Site_p.G541_splice|NPHS1_ENST00000591817.1_Intron	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													61	206					0	0	1	0	0	A	36355551	G	A	36355551	5	1	22	1	0	0	0	0	0	0	1	0	8368	1217	42	2	1781	2	KIRREL2	19	36355551	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4095	36355551	22773432	18422	20568											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	140					2.27459e-33	2.69573e-33	1	1	0	T	36360568	G	T	36360568	3	4	22	1	0	0	0	0	1	0	0	0	775	1014	35	2	153	2	APLP1	19	36360568	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5017	36360568	22768415	18423	20569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537454.2_Missense_Mutation_p.M125I|APLP1_ENST00000586861.1_Missense_Mutation_p.M158I	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													19	82					2.94398e-08	3.0722e-08	1	1	0	T	36362206	G	T	36362206	3	4	22	1	0	0	0	0	1	0	0	0	775	1348	47	2	506	2	APLP1	19	36362206	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1638	36362206	22766777	18424	20570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537454.2_Missense_Mutation_p.E267D|APLP1_ENST00000586861.1_Missense_Mutation_p.E300D	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													27	714					6.32553e-13	6.81307e-13	1	1	0	T	36363452	G	T	36363452	3	4	22	1	0	0	0	0	1	0	0	0	775	962	34	2	944	2	APLP1	19	36363452	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1246	36363452	22765531	18425	20571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352614.2_Missense_Mutation_p.A265V|NFKBID_ENST00000606253.1_Missense_Mutation_p.A113V	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													39	411					0	0	1	0	0	A	36387361	G	A	36387361	3	1	22	1	0	0	0	0	1	0	0	0	10426	1203	42	2	627	2	NFKBID	19	36387361	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23909	36387361	22741622	18426	20572											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	129					3.90053e-15	4.25374e-15	1	1	0	A	36435681	C	A	36435681	2	1	22	1	0	0	0	0	0	0	0	1	8984	668	24	2		2	LRFN3	19	36435681	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48320	36435681	22693302	18427	20573											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378875.3_Missense_Mutation_p.R102W|ALKBH6_ENST00000485128.1_Missense_Mutation_p.R74W|ALKBH6_ENST00000495116.2_Intron|ALKBH6_ENST00000252984.7_Missense_Mutation_p.R74W|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													34	94					0	0	1	0	0	A	36501912	G	A	36501912	3	1	22	1	0	0	0	0	1	0	0	0	527	1086	38	1	508	1	ALKBH6	19	36501912	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66231	36501912	22627071	18428	20574											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	143					0	0	1	0	0	A	36507083	G	A	36507083	2	1	22	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	18429	20575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	226					0	0	1	0	0	C	36508882	T	C	36508882	3	2	22	1	0	0	0	0	1	0	0	0	3557	1667	58	3	468	3	CLIP3	19	36508882	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1799	36508882	22620101	18430	20576											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	215					0	0	1	0	0	A	36517067	G	A	36517067	2	1	22	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	18431	20577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	174					0	0	1	0	0	T	36517490	C	T	36517490	3	4	22	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	18432	20578											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	196					9.93527e-08	1.03436e-07	1	1	0	T	36517509	G	T	36517509	3	4	22	1	0	0	0	0	1	0	0	0	3557	962	34	2	1142	2	CLIP3	19	36517509	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19	36517509	22611474	18433	20579											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	298					0	0	1	0	0	A	36590347	G	A	36590347	3	1	22	1	0	0	0	0	1	0	0	0	17373	1087	38	1	2653	1	WDR62	19	36590347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72838	36590347	22538636	18434	20580											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CAPNS1_ENST00000590874.1_Missense_Mutation_p.A171T|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_Missense_Mutation_p.A201T|CAPNS1_ENST00000589146.1_Missense_Mutation_p.A27T|CAPNS1_ENST00000588815.1_Missense_Mutation_p.A201T|CAPNS1_ENST00000588780.1_Missense_Mutation_p.A211T	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													208	900					0	0	1	0	0	A	36636953	G	A	36636953	3	1	22	1	0	0	0	0	1	0	0	0	2651	971	34	2	627	2	CAPNS1	19	36636953	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46606	36636953	22492030	18435	20581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	231					0	0	1	0	0	A	36673443	G	A	36673443	2	1	22	1	0	0	0	0	0	0	0	1	18053	1140	40	1		1	ZNF565	19	36673443	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36490	36673443	22455540	18436	20582											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	398					5.95195e-44	7.27654e-44	1	1	0	A	36831798	C	A	36831798	3	1	22	1	0	0	0	0	1	0	0	0	17697	796	28	2	675	2	ZFP14	19	36831798	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158355	36831798	22297185	18437	20583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	501					1.04275e-50	1.2925e-50	1	1	0	T	36884325	G	T	36884325	3	4	22	1	0	0	0	0	1	0	0	0	17711	971	34	2	685	2	ZFP82	19	36884325	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52527	36884325	22244658	18438	20584											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434377.2_Missense_Mutation_p.H138Y|ZNF566_ENST00000424129.2_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													15	984					0	0	1	0	0	A	36940724	G	A	36940724	3	1	22	1	0	0	0	0	1	0	0	0	18054	1377	48	2	848	2	ZNF566	19	36940724	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56399	36940724	22188259	18439	20585											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588993.1_Missense_Mutation_p.F372L|ZNF260_ENST00000592282.1_Missense_Mutation_p.F372L|ZNF260_ENST00000593142.1_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													97	445					4.00701e-44	4.89994e-44	1	1	0	T	37005025	G	T	37005025	3	4	22	1	0	0	0	0	1	0	0	0	17860	933	33	2	126	2	ZNF260	19	37005025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64301	37005025	22123958	18440	20586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588993.1_Silent_p.I185I|ZNF260_ENST00000592282.1_Silent_p.I185I|ZNF260_ENST00000593142.1_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													28	820					9.39395e-14	1.01619e-13	1	1	0	T	37005586	G	T	37005586	2	4	22	1	0	0	0	0	0	0	0	1	17860	1164	41	2		2	ZNF260	19	37005586	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	561	37005586	22123397	18441	20587											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000292928.2_Missense_Mutation_p.K359T|ZNF382_ENST00000439428.1_Missense_Mutation_p.K358T|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													25	380					0	0	1	0	0	C	37117875	A	C	37117875	3	2	22	1	0	0	0	0	1	0	0	0	17930	72	3	3	1086	3	ZNF382	19	37117875	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112289	37117875	22011108	18442	20588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000292928.2_Missense_Mutation_p.R474H|ZNF382_ENST00000439428.1_Missense_Mutation_p.R473H|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													16	224					0	0	1	0	0	A	37118220	G	A	37118220	3	1	22	1	0	0	0	0	1	0	0	0	17930	1087	38	1	1431	1	ZNF382	19	37118220	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	345	37118220	22010763	18443	20589											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000292928.2_Missense_Mutation_p.R484I|ZNF382_ENST00000439428.1_Missense_Mutation_p.R483I|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													43	206					6.2361e-21	7.00342e-21	1	1	0	T	37118250	G	T	37118250	3	4	22	1	0	0	0	0	1	0	0	0	17930	942	33	2	1461	2	ZNF382	19	37118250	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30	37118250	22010733	18444	20590											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|ZNF567_ENST00000588311.1_Missense_Mutation_p.R428C|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Missense_Mutation_p.R459C			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													72	307					0	0	1	0	0	T	37211001	C	T	37211001	3	4	22	1	0	0	0	0	1	0	0	0	18055	652	23	1	1292	1	ZNF567	19	37211001	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92751	37211001	21917982	18445	20591											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|ZNF567_ENST00000588311.1_Silent_p.H465H|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Silent_p.H496H			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													49	260					0	0	1	0	0	T	37211114	C	T	37211114	2	4	22	1	0	0	0	0	0	0	0	1	18055	506	18	2		2	ZNF567	19	37211114	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113	37211114	21917869	18446	20592											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													142	494					0	0	1	0	0	A	37309616	T	A	37309616	3	1	22	1	0	0	0	0	1	0	0	0	18211	1406	49	5	284	5	ZNF790	19	37309616	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	98502	37309616	21819367	18447	20593											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	659					0	0	1	0	0	A	37309951	G	A	37309951	3	1	22	1	0	0	0	0	1	0	0	0	18211	1029	36	2	619	2	ZNF790	19	37309951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	335	37309951	21819032	18448	20594											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	412					0	0	1	0	0	C	37310733	T	C	37310733	2	2	22	1	0	0	0	0	0	0	0	1	18211	1490	52	3		3	ZNF790	19	37310733	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	782	37310733	21818250	18449	20595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420450.1_Missense_Mutation_p.R222W|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.R222W			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													53	278					0	0	1	0	0	T	37368396	C	T	37368396	3	4	22	1	0	0	0	0	1	0	0	0	17916	759	27	1	666	1	ZNF345	19	37368396	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57663	37368396	21760587	18450	20596											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420450.1_Missense_Mutation_p.C232Y|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.C232Y			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													56	284					0	0	1	0	0	A	37368427	G	A	37368427	3	1	22	1	0	0	0	0	1	0	0	0	17916	1319	46	2	697	2	ZNF345	19	37368427	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31	37368427	21760556	18451	20597											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420450.1_Silent_p.I391I|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Silent_p.I391I			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													16	318					0	0	1	0	0	T	37368905	C	T	37368905	2	4	22	1	0	0	0	0	0	0	0	1	17916	845	30	2		2	ZNF345	19	37368905	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	478	37368905	21760078	18452	20598	136	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420450.1_Missense_Mutation_p.T393N|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.T393N			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													60	269					1.47633e-17	1.63113e-17	1	1	0	A	37368910	C	A	37368910	3	1	22	1	0	0	0	0	1	0	0	0	17916	565	20	2	1180	2	ZNF345	19	37368910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	37368910	21760073	18453	20599	136	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Missense_Mutation_p.R420H|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													65	305					0	0	1	0	0	T	37382434	C	T	37382434	3	4	22	1	0	0	0	0	1	0	0	0	18229	768	27	1	43	1	ZNF829	19	37382434	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13524	37382434	21746549	18454	20600											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Silent_p.A332A|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													43	205					1.62957e-23	1.85347e-23	1	1	0	T	37382697	G	T	37382697	2	4	22	1	0	0	0	0	0	0	0	1	18229	987	35	2		2	ZNF829	19	37382697	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263	37382697	21746286	18455	20601											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	197					2.45108e-15	2.67628e-15	1	1	0	A	37413686	C	A	37413686	3	1	22	1	0	0	0	0	1	0	0	0	18056	913	32	2	16	2	ZNF568	19	37413686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30989	37413686	21715297	18456	20602											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	162					0	0	1	0	0	T	37416155	C	T	37416155	3	4	22	1	0	0	0	0	1	0	0	0	18056	739	26	2	136	2	ZNF568	19	37416155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2469	37416155	21712828	18457	20603											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37427667A>T	ENST00000415168.1	+	0	339				ZNF568_ENST00000333987.7_Missense_Mutation_p.D52V|ZNF568_ENST00000427117.1_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													50	259					0	0	1	0	0	T	37427667	A	T	37427667	1	4	22	1	0	0	0	0	0	0	0	0	18056	333	12	5		5	ZNF568	19	37427667	Translation_Start_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11512	37427667	21701316	18458	20604											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000333987.7_Missense_Mutation_p.E241G|ZNF568_ENST00000427117.1_Intron|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													74	283					0	0	1	0	0	G	37440777	A	G	37440777	3	3	22	1	0	0	0	0	1	0	0	0	18056	304	11	3	740	3	ZNF568	19	37440777	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13110	37440777	21688206	18459	20605	137	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000333987.7_Nonsense_Mutation_p.R242*|ZNF568_ENST00000427117.1_Intron|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													74	278					0	0	1	0	0	T	37440779	C	T	37440779	4	4	22	1	0	0	0	0	0	1	0	0	18056	760	27	1	742	1	ZNF568	19	37440779	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2	37440779	21688204	18460	20606	137	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000333987.7_Missense_Mutation_p.R640I|ZNF568_ENST00000427117.1_Intron|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													35	266					2.42023e-17	2.67004e-17	1	1	0	T	37441974	G	T	37441974	3	4	22	1	0	0	0	0	1	0	0	0	18056	942	33	2	1937	2	ZNF568	19	37441974	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1195	37441974	21687009	18461	20607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	287					0	0	1	0	0	G	37618211	T	G	37618211	4	3	22	1	0	0	0	0	0	1	0	0	17954	1500	52	3	328	3	ZNF420	19	37618211	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	176237	37618211	21510772	18462	20608											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	473					0	0	1	0	0	C	37618753	T	C	37618753	3	2	22	1	0	0	0	0	1	0	0	0	17954	1667	58	3	870	3	ZNF420	19	37618753	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	542	37618753	21510230	18463	20609											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000292841.5_Missense_Mutation_p.Y69C|ZNF585A_ENST00000355533.2_Missense_Mutation_p.Y69C|ZNF585A_ENST00000392157.2_Missense_Mutation_p.Y69C|ZNF585A_ENST00000588723.1_Intron			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													202	815					0	0	1	0	0	C	37644430	T	C	37644430	3	2	22	1	0	0	0	0	1	0	0	0	18074	1406	49	3	1942	3	ZNF585A	19	37644430	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25677	37644430	21484553	18464	20610											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.E275K	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													132	557					0	0	1	0	0	T	37677451	C	T	37677451	3	4	22	1	0	0	0	0	1	0	0	0	18075	893	31	1	1325	1	ZNF585B	19	37677451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33021	37677451	21451532	18465	20611											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S200Y	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													128	632					9.56113e-55	1.19399e-54	1	1	0	T	37677675	G	T	37677675	3	4	22	1	0	0	0	0	1	0	0	0	18075	1174	41	2	1549	2	ZNF585B	19	37677675	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	224	37677675	21451308	18466	20612											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352998.3_Silent_p.P337P|ZNF383_ENST00000590503.1_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													82	381					0	0	1	0	0	T	37734149	C	T	37734149	2	4	22	1	0	0	0	0	0	0	0	1	17931	668	24	2		2	ZNF383	19	37734149	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56474	37734149	21394834	18467	20613											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352998.3_Missense_Mutation_p.R414I|ZNF383_ENST00000590503.1_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													53	220					4.25531e-23	4.83061e-23	1	1	0	T	37734379	G	T	37734379	3	4	22	1	0	0	0	0	1	0	0	0	17931	942	33	2	1255	2	ZNF383	19	37734379	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230	37734379	21394604	18468	20614											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352998.3_Missense_Mutation_p.C427Y|ZNF383_ENST00000590503.1_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													73	295					0	0	1	0	0	A	37734418	G	A	37734418	3	1	22	1	0	0	0	0	1	0	0	0	17931	1377	48	2	1294	2	ZNF383	19	37734418	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	37734418	21394565	18469	20615											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	260					0	0	1	0	0	G	37880058	T	G	37880058	2	3	22	1	0	0	0	0	0	0	0	1	18025	1712	60	3		3	ZNF527	19	37880058	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	145640	37880058	21248925	18470	20616											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37916864G>T	ENST00000316950.6	-	5	701	c.142_splice	c.e5-1	p.G48_splice	ZNF569_ENST00000589833.1_Splice_Site_p.G72_splice|ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000392149.2_Splice_Site_p.G48_splice|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													283	1097					5.54837e-101	7.1369e-101	1	1	0	T	37916864	G	T	37916864	5	4	22	1	0	0	0	0	0	0	1	0	18057	985	34	2	1924	2	ZNF569	19	37916864	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36806	37916864	21212119	18471	20617											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	344					0	0	1	0	0	T	37966858	C	T	37966858	3	4	22	1	0	0	0	0	1	0	0	0	18059	478	17	2	115	2	ZNF570	19	37966858	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49994	37966858	21162125	18472	20618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	760					1.3612e-06	1.40558e-06	1	1	0	T	37974942	G	T	37974942	3	4	22	1	0	0	0	0	1	0	0	0	18059	1000	35	2	432	2	ZNF570	19	37974942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8084	37974942	21154041	18473	20619											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589319.1_Intron|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000587143.1_Missense_Mutation_p.A202S|ZNF793_ENST00000542455.1_Missense_Mutation_p.A202S			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													29	104					4.3181e-19	4.80867e-19	1	1	0	T	38028164	G	T	38028164	3	4	22	1	0	0	0	0	1	0	0	0	18214	1203	42	2	618	2	ZNF793	19	38028164	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53222	38028164	21100819	18474	20620											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589319.1_Intron|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000587143.1_Missense_Mutation_p.K331N|ZNF793_ENST00000542455.1_Missense_Mutation_p.K331N			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													28	159					0	0	1	0	0	C	38028553	A	C	38028553	3	2	22	1	0	0	0	0	1	0	0	0	18214	11	1	3	1007	3	ZNF793	19	38028553	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	389	38028553	21100430	18475	20621											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589319.1_Intron|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000587143.1_Missense_Mutation_p.G345R|ZNF793_ENST00000542455.1_Missense_Mutation_p.G345R			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													33	177					0	0	1	0	0	A	38028593	G	A	38028593	3	1	22	1	0	0	0	0	1	0	0	0	18214	1349	47	2	1047	2	ZNF793	19	38028593	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40	38028593	21100390	18476	20622											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	244					0	0	1	0	0	A	38103199	G	A	38103199	3	1	22	1	0	0	0	0	1	0	0	0	18032	1117	39	1	1032	1	ZNF540	19	38103199	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74606	38103199	21025784	18477	20623											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.K539T	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													60	304					0	0	1	0	0	G	38189413	T	G	38189413	3	3	22	1	0	0	0	0	1	0	0	0	18090	1609	56	3	475	3	ZNF607	19	38189413	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	86214	38189413	20939570	18478	20624											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.F217L	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													101	414					0	0	1	0	0	G	38190380	A	G	38190380	3	3	22	1	0	0	0	0	1	0	0	0	18090	101	4	3	1442	3	ZNF607	19	38190380	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	967	38190380	20938603	18479	20625											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392138.1_Silent_p.H405H|ZNF573_ENST00000357309.3_Silent_p.H404H|ZNF573_ENST00000590414.2_Silent_p.H492H|ZNF573_ENST00000536220.1_Silent_p.H404H	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													83	373					0	0	1	0	0	G	38229915	A	G	38229915	2	3	22	1	0	0	0	0	0	0	0	1	18062	446	16	3		3	ZNF573	19	38229915	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39535	38229915	20899068	18480	20626											
ZNF573	126231	broad.mit.edu	37	chr19	38229999	38229999	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaaagtttcttaccagtGtgaatattctgatgtcgagt	8	6	3	2	rs142175416	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38229999G>A	ENST00000339503.4	-	8	1719	c.1218C>T	c.(1216-1218)caC>caT	p.H406H	ZNF573_ENST00000392138.1_Silent_p.H377H|ZNF573_ENST00000357309.3_Silent_p.H376H|ZNF573_ENST00000590414.2_Silent_p.H464H|ZNF573_ENST00000536220.1_Silent_p.H376H	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	444					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)			TCTTACCAGTGTGAATATTCT	0.358													94	424					0	0	1	0	0	A	38229999	G	A	38229999	2	1	22	1	0	0	0	0	0	0	0	1	18062	1368	48	2		2	ZNF573	19	38229999	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84	38229999	20898984	18481	20627											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	133					0	0	1	0	0	T	38572967	C	T	38572967	2	4	22	1	0	0	0	0	0	0	0	1	14386	755	27	1		1	SIPA1L3	19	38572967	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	342968	38572967	20556016	18482	20628											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	624					0	0	1	0	0	G	38600883	A	G	38600883	3	3	22	1	0	0	0	0	1	0	0	0	14386	159	6	3	2172	3	SIPA1L3	19	38600883	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27916	38600883	20528100	18483	20629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	245					1.20111e-47	1.47919e-47	1	1	0	A	38610136	C	A	38610136	3	1	22	1	0	0	0	0	1	0	0	0	14386	680	24	2	2508	2	SIPA1L3	19	38610136	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9253	38610136	20518847	18484	20630											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	263					0	0	1	0	0	T	38610224	C	T	38610224	3	4	22	1	0	0	0	0	1	0	0	0	14386	478	17	2	2596	2	SIPA1L3	19	38610224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	38610224	20518759	18485	20631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000414789.1_Missense_Mutation_p.K207N|DPF1_ENST00000456296.1_Missense_Mutation_p.K263N|DPF1_ENST00000355526.4_Missense_Mutation_p.K289N|DPF1_ENST00000420980.2_Missense_Mutation_p.K245N|DPF1_ENST00000412732.1_Missense_Mutation_p.K207N			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													64	204					5.73332e-34	6.80828e-34	1	1	0	A	38706892	C	A	38706892	3	1	22	1	0	0	0	0	1	0	0	0	4743	680	24	2	423	2	DPF1	19	38706892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96668	38706892	20422091	18486	20632											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000414789.1_Silent_p.R109R|DPF1_ENST00000456296.1_Silent_p.R165R|DPF1_ENST00000355526.4_Silent_p.R191R|DPF1_ENST00000420980.2_Silent_p.R191R|DPF1_ENST00000412732.1_Silent_p.R109R			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													52	287					0	0	1	0	0	G	38709239	T	G	38709239	2	3	22	1	0	0	0	0	0	0	0	1	4743	1579	55	3		3	DPF1	19	38709239	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2347	38709239	20419744	18487	20633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	310					2.19489e-29	2.56362e-29	1	1	0	T	38817849	G	T	38817849	3	4	22	1	0	0	0	0	1	0	0	0	8114	1261	44	2	758	2	KCNK6	19	38817849	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108610	38817849	20311134	18488	20634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	336					0	0	1	0	0	A	38817902	G	A	38817902	2	1	22	1	0	0	0	0	0	0	0	1	8114	962	34	2		2	KCNK6	19	38817902	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53	38817902	20311081	18489	20635											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	365					0	0	1	0	0	T	38817988	C	T	38817988	3	4	22	1	0	0	0	0	1	0	0	0	8114	893	31	1	897	1	KCNK6	19	38817988	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86	38817988	20310995	18490	20636											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.S607N	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													5	159					0	0	1	0	0	A	38852347	G	A	38852347	3	1	22	1	0	0	0	0	1	0	0	0	2710	971	34	2	2002	2	CATSPERG	19	38852347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34359	38852347	20276636	18491	20637											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.S817S	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													89	395					0	0	1	0	0	T	38855715	C	T	38855715	2	4	22	1	0	0	0	0	0	0	0	1	2710	639	23	1		1	CATSPERG	19	38855715	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3368	38855715	20273268	18492	20638											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.I928I	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													66	1426					1.22674e-20	1.37621e-20	1	1	0	A	38858390	C	A	38858390	2	1	22	1	0	0	0	0	0	0	0	1	2710	903	32	2		2	CATSPERG	19	38858390	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2675	38858390	20270593	18493	20639											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	103					1.55795e-14	1.69389e-14	1	1	0	T	38931486	G	T	38931486	3	4	22	1	0	0	0	0	1	0	0	0	13820	962	34	2	153	2	RYR1	19	38931486	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73096	38931486	20197497	18494	20640											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	178					9.58827e-17	1.05493e-16	1	1	0	T	38937111	G	T	38937111	5	4	22	1	0	0	0	0	0	0	1	0	13820	1014	35	2	661	2	RYR1	19	38937111	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5625	38937111	20191872	18495	20641											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	54					0	0	1	0	0	A	38956988	G	A	38956988	3	1	22	1	0	0	0	0	1	0	0	0	13820	1087	38	1	3222	1	RYR1	19	38956988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19877	38956988	20171995	18496	20642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	291					0	0	1	0	0	T	38959659	C	T	38959659	2	4	22	1	0	0	0	0	0	0	0	1	13820	755	27	1		1	RYR1	19	38959659	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2671	38959659	20169324	18497	20643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	449					0	0	1	0	0	T	38976414	C	T	38976414	3	4	22	1	0	0	0	0	1	0	0	0	13820	768	27	1	5253	1	RYR1	19	38976414	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16755	38976414	20152569	18498	20644											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	198					0	0	1	0	0	T	38993325	C	T	38993325	3	4	22	1	0	0	0	0	1	0	0	0	13820	768	27	1	7983	1	RYR1	19	38993325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16911	38993325	20135658	18499	20645											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	323					0	0	1	0	0	A	38996982	G	A	38996982	3	1	22	1	0	0	0	0	1	0	0	0	13820	1058	37	1	8799	1	RYR1	19	38996982	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3657	38996982	20132001	18500	20646											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	300					0	0	1	0	0	T	39008036	C	T	39008036	2	4	22	1	0	0	0	0	0	0	0	1	13820	639	23	1		1	RYR1	19	39008036	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11054	39008036	20120947	18501	20647											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	663					5.91797e-21	6.65236e-21	1	1	0	A	39013945	C	A	39013945	3	1	22	1	0	0	0	0	1	0	0	0	13820	797	28	2	10710	2	RYR1	19	39013945	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5909	39013945	20115038	18502	20648											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	451					9.25274e-37	1.1089e-36	1	1	0	A	39028579	C	A	39028579	3	1	22	1	0	0	0	0	1	0	0	0	13820	797	28	2	12002	2	RYR1	19	39028579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14634	39028579	20100404	18503	20649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	345					0	0	1	0	0	A	39038920	G	A	39038920	3	1	22	1	0	0	0	0	1	0	0	0	13820	1145	40	1	12496	1	RYR1	19	39038920	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10341	39038920	20090063	18504	20650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	316					6.5469e-37	7.85029e-37	1	1	0	A	39058490	C	A	39058490	3	1	22	1	0	0	0	0	1	0	0	0	13820	681	24	2	13962	2	RYR1	19	39058490	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19570	39058490	20070493	18505	20651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	430					0	0	1	0	0	T	39062895	C	T	39062895	2	4	22	1	0	0	0	0	0	0	0	1	13820	784	28	2		2	RYR1	19	39062895	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4405	39062895	20066088	18506	20652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	293					0	0	1	0	0	G	39063833	T	G	39063833	3	3	22	1	0	0	0	0	1	0	0	0	13820	1841	64	3	14397	3	RYR1	19	39063833	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	938	39063833	20065150	18507	20653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MAP4K1_ENST00000589130.1_Silent_p.L658L|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000396857.2_Silent_p.L662L|CTB-186G2.1_ENST00000589557.1_RNA	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													16	55					0	0	1	0	0	A	39087084	G	A	39087084	2	1	22	1	0	0	0	0	0	0	0	1	9309	962	34	2		2	MAP4K1	19	39087084	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23251	39087084	20041899	18508	20654											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MAP4K1_ENST00000423454.2_3'UTR|MAP4K1_ENST00000589130.1_Missense_Mutation_p.D599N|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000396857.2_Missense_Mutation_p.D603N|CTB-186G2.1_ENST00000589557.1_RNA	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													256	1217					0	0	1	0	0	T	39087996	C	T	39087996	3	4	22	1	0	0	0	0	1	0	0	0	9309	855	30	2	792	2	MAP4K1	19	39087996	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	912	39087996	20040987	18509	20655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MAP4K1_ENST00000423454.2_Missense_Mutation_p.G183S|MAP4K1_ENST00000589130.1_Missense_Mutation_p.G517S|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000396857.2_Missense_Mutation_p.G521S|CTB-186G2.1_ENST00000589557.1_RNA	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													52	221					0	0	1	0	0	T	39090764	C	T	39090764	3	4	22	1	0	0	0	0	1	0	0	0	9309	681	24	2	1050	2	MAP4K1	19	39090764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2768	39090764	20038219	18510	20656											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588934.1_Missense_Mutation_p.R97W|EIF3K_ENST00000248342.4_Missense_Mutation_p.R97W|EIF3K_ENST00000538434.1_Missense_Mutation_p.R10W|EIF3K_ENST00000593149.1_Missense_Mutation_p.R10W|EIF3K_ENST00000592558.1_Missense_Mutation_p.R97W|EIF3K_ENST00000593062.1_3'UTR			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													128	616					0	0	1	0	0	T	39116677	C	T	39116677	3	4	22	1	0	0	0	0	1	0	0	0	5049	527	19	1	303	1	EIF3K	19	39116677	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25913	39116677	20012306	18511	20657											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	367					0.00307968	0.00310409	1	1	0	A	39228155	C	A	39228155	3	1	22	1	0	0	0	0	1	0	0	0	2643	624	22	2	1122	2	CAPN12	19	39228155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111478	39228155	19900828	18512	20658											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	165					0	0	1	0	0	T	39233119	C	T	39233119	2	4	22	1	0	0	0	0	0	0	0	1	2643	726	26	2		2	CAPN12	19	39233119	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4964	39233119	19895864	18513	20659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	436					0	0	1	0	0	A	39292481	G	A	39292481	3	1	22	1	0	0	0	0	1	0	0	0	8784	1348	47	2	80	2	LGALS4	19	39292481	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59362	39292481	19836502	18514	20660											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	247					0	0	1	0	0	A	39292728	G	A	39292728	2	1	22	1	0	0	0	0	0	0	0	1	8784	1136	40	1		1	LGALS4	19	39292728	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	247	39292728	19836255	18515	20661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	117					0	0	1	0	0	T	39294407	C	T	39294407	3	4	22	1	0	0	0	0	1	0	0	0	8784	710	25	2	476	2	LGALS4	19	39294407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1679	39294407	19834576	18516	20662											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	71	364					5.00936e-31	5.8875e-31	1	1	0	T	39360243	G	T	39360243	3	4	22	1	0	0	0	0	1	0	0	0	13427	971	34	2	268	2	RINL	19	39360243	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65836	39360243	19768740	18517	20663											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	80	393					5.41189e-41	6.56972e-41	1	1	0	T	39360267	G	T	39360267	3	4	22	1	0	0	0	0	1	0	0	0	13427	962	34	2	292	2	RINL	19	39360267	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24	39360267	19768716	18518	20664											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	274					0	0	1	0	0	A	39361854	G	A	39361854	2	1	22	1	0	0	0	0	0	0	0	1	13427	1048	37	1		1	RINL	19	39361854	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1587	39361854	19767129	18519	20665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-360G5.8_ENST00000599996.1_Silent_p.G73G|FBXO17_ENST00000595329.1_Missense_Mutation_p.V169A|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													42	200					0	0	1	0	0	G	39437163	A	G	39437163	3	3	22	1	0	0	0	0	1	0	0	0	5763	159	6	3	342	3	FBXO17	19	39437163	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75309	39437163	19691820	18520	20666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000509137.2_Missense_Mutation_p.R281C|FBXO27_ENST00000600828.1_Missense_Mutation_p.R280C	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													69	434					0	0	1	0	0	A	39516062	G	A	39516062	3	1	22	1	0	0	0	0	1	0	0	0	5770	1116	39	1	14	1	FBXO27	19	39516062	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78899	39516062	19612921	18521	20667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000509137.2_Silent_p.S198S|FBXO27_ENST00000600828.1_Silent_p.S197S	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													110	572					0	0	1	0	0	A	39517624	G	A	39517624	2	1	22	1	0	0	0	0	0	0	0	1	5770	1078	38	1		1	FBXO27	19	39517624	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1562	39517624	19611359	18522	20668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358301.3_Silent_p.V476V|PAK4_ENST00000435673.2_Silent_p.V476V|PAK4_ENST00000360442.3_Silent_p.V476V|PAK4_ENST00000321944.4_Silent_p.V386V|PAK4_ENST00000593690.1_Silent_p.V476V|PAK4_ENST00000599470.1_Silent_p.V323V	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													195	894					0	0	1	0	0	T	39667298	C	T	39667298	2	4	22	1	0	0	0	0	0	0	0	1	11450	871	31	1		1	PAK4	19	39667298	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149674	39667298	19461685	18523	20669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358301.3_Nonsense_Mutation_p.W481*|PAK4_ENST00000435673.2_Nonsense_Mutation_p.W481*|PAK4_ENST00000360442.3_Nonsense_Mutation_p.W481*|PAK4_ENST00000321944.4_Nonsense_Mutation_p.W391*|PAK4_ENST00000593690.1_Nonsense_Mutation_p.W481*|PAK4_ENST00000599470.1_Nonsense_Mutation_p.W328*	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													199	796					0	0	1	0	0	A	39667313	G	A	39667313	4	1	22	1	0	0	0	0	0	1	0	0	11450	1183	41	2	1465	2	PAK4	19	39667313	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	39667313	19461670	18524	20670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	65					0	0	1	0	0	A	39798496	G	A	39798496	3	1	22	1	0	0	0	0	1	0	0	0	8982	1116	39	1	226	1	LRFN1	19	39798496	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131183	39798496	19330487	18525	20671	138	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	59					0	0	1	0	0	T	39798503	C	T	39798503	3	4	22	1	0	0	0	0	1	0	0	0	8982	739	26	2	233	2	LRFN1	19	39798503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7	39798503	19330480	18526	20672	138	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	100					0	0	1	0	0	A	39805276	G	A	39805276	3	1	22	1	0	0	0	0	1	0	0	0	8982	1059	37	1	1622	1	LRFN1	19	39805276	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6773	39805276	19323707	18527	20673											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	116					0	0	1	0	0	G	39805339	A	G	39805339	3	3	22	1	0	0	0	0	1	0	0	0	8982	275	10	3	1685	3	LRFN1	19	39805339	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	63	39805339	19323644	18528	20674											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39826613C>T	ENST00000598034.1	-	1	33		c.e1+1		GMFG_ENST00000602185.1_Splice_Site|GMFG_ENST00000594700.1_Splice_Site|GMFG_ENST00000601387.1_Splice_Site|GMFG_ENST00000597595.1_Splice_Site|GMFG_ENST00000600322.1_Intron|GMFG_ENST00000595636.1_Splice_Site|GMFG_ENST00000253054.8_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													6	133					0	0	1	0	0	T	39826613	C	T	39826613	5	4	22	1	0	0	0	0	0	0	1	0	6532	521	18	2	452	2	GMFG	19	39826613	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21274	39826613	19302370	18529	20675											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	63					0	0	1	0	0	A	39847484	G	A	39847484	1	1	22	1	0	0	0	0	0	0	0	0	13874	1102	38	1		1	SAMD4B	19	39847484	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20871	39847484	19281499	18530	20676											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	271					0	0	1	0	0	T	39879412	C	T	39879412	3	4	22	1	0	0	0	0	1	0	0	0	11430	739	26	2	889	2	PAF1	19	39879412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31928	39879412	19249571	18531	20677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	375					3.04226e-33	3.60366e-33	1	1	0	T	39880299	G	T	39880299	2	4	22	1	0	0	0	0	0	0	0	1	11430	987	35	2		2	PAF1	19	39880299	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	887	39880299	19248684	18532	20678											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000599213.2_Missense_Mutation_p.S94G|MED29_ENST00000594368.1_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													121	650					0	0	1	0	0	G	39884197	A	G	39884197	3	3	22	1	0	0	0	0	1	0	0	0	9497	304	11	3	353	3	MED29	19	39884197	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3898	39884197	19244786	18533	20679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409794.3_Nonsense_Mutation_p.Y128*|PLEKHG2_ENST00000378550.1_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													10	156					3.86212e-05	3.93988e-05	1	1	0	A	39905984	C	A	39905984	4	1	22	1	0	0	0	0	0	1	0	0	12117	518	18	2	394	2	PLEKHG2	19	39905984	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21787	39905984	19222999	18534	20680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409794.3_Missense_Mutation_p.E167K|PLEKHG2_ENST00000378550.1_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													53	800					0	0	1	0	0	A	39907007	G	A	39907007	3	1	22	1	0	0	0	0	1	0	0	0	12117	1175	41	2	513	2	PLEKHG2	19	39907007	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1023	39907007	19221976	18535	20681											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409794.3_Silent_p.L234L|PLEKHG2_ENST00000378550.1_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													18	428					0	0	1	0	0	T	39907596	C	T	39907596	2	4	22	1	0	0	0	0	0	0	0	1	12117	796	28	2		2	PLEKHG2	19	39907596	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	589	39907596	19221387	18536	20682											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409794.3_Missense_Mutation_p.F338L|PLEKHG2_ENST00000378550.1_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													12	93					7.93312e-07	8.20014e-07	1	1	0	A	39908676	C	A	39908676	3	1	22	1	0	0	0	0	1	0	0	0	12117	854	30	2	1044	2	PLEKHG2	19	39908676	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1080	39908676	19220307	18537	20683											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402194.2_Nonsense_Mutation_p.Q207*|SUPT5H_ENST00000432763.2_Nonsense_Mutation_p.Q211*|SUPT5H_ENST00000598725.1_Nonsense_Mutation_p.Q211*|SUPT5H_ENST00000359191.6_Nonsense_Mutation_p.Q207*			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													69	328					0	0	1	0	0	T	39955444	C	T	39955444	4	4	22	1	0	0	0	0	0	1	0	0	15455	711	25	2	669	2	SUPT5H	19	39955444	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46768	39955444	19173539	18538	20684											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402194.2_Missense_Mutation_p.A911V|SUPT5H_ENST00000432763.2_Missense_Mutation_p.A915V|SUPT5H_ENST00000598725.1_Missense_Mutation_p.A915V|SUPT5H_ENST00000359191.6_Missense_Mutation_p.A911V			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)	63	259					0	0	1	0	0	T	39964966	C	T	39964966	3	4	22	1	0	0	0	0	1	0	0	0	15455	768	27	1	2846	1	SUPT5H	19	39964966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9522	39964966	19164017	18539	20685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	380					2.41437e-24	2.75981e-24	1	1	0	T	39971218	G	T	39971218	3	4	22	1	0	0	0	0	1	0	0	0	15973	1290	45	2	36	2	TIMM50	19	39971218	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6252	39971218	19157765	18540	20686											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000607714.1_Missense_Mutation_p.S61R|TIMM50_ENST00000544017.1_5'UTR|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													173	682					1.08347e-72	1.37854e-72	1	1	0	A	39972597	C	A	39972597	3	1	22	1	0	0	0	0	1	0	0	0	15973	796	28	2	498	2	TIMM50	19	39972597	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1379	39972597	19156386	18541	20687											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000430012.2_Silent_p.S493S|DYRK1B_ENST00000348817.3_Silent_p.S505S|DYRK1B_ENST00000597639.1_Silent_p.S505S|DYRK1B_ENST00000323039.5_Silent_p.S533S			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													16	283					0	0	1	0	0	T	40316646	C	T	40316646	2	4	22	1	0	0	0	0	0	0	0	1	4881	523	19	1		1	DYRK1B	19	40316646	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	344049	40316646	18812337	18542	20688											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000430012.2_Missense_Mutation_p.S464I|DYRK1B_ENST00000348817.3_Missense_Mutation_p.S476I|DYRK1B_ENST00000597639.1_Missense_Mutation_p.S476I|DYRK1B_ENST00000323039.5_Missense_Mutation_p.S504I			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													68	297					1.49552e-23	1.70131e-23	1	1	0	A	40316827	C	A	40316827	3	1	22	1	0	0	0	0	1	0	0	0	4881	797	28	2	386	2	DYRK1B	19	40316827	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	181	40316827	18812156	18543	20689											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000430012.2_Silent_p.A340A|DYRK1B_ENST00000348817.3_Silent_p.A340A|DYRK1B_ENST00000597639.1_Silent_p.A340A|DYRK1B_ENST00000323039.5_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													38	297					0	0	1	0	0	T	40318000	C	T	40318000	2	4	22	1	0	0	0	0	0	0	0	1	4881	755	27	1		1	DYRK1B	19	40318000	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1173	40318000	18810983	18544	20690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000430012.2_Missense_Mutation_p.A218T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A218T|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A218T|DYRK1B_ENST00000323039.5_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													23	102					0	0	1	0	0	T	40319092	C	T	40319092	3	4	22	1	0	0	0	0	1	0	0	0	4881	739	26	2	1261	2	DYRK1B	19	40319092	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1092	40319092	18809891	18545	20691											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	209					1.93748e-29	2.26412e-29	1	1	0	T	40327287	G	T	40327287	3	4	22	1	0	0	0	0	1	0	0	0	5729	971	34	2	273	2	FBL	19	40327287	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8195	40327287	18801696	18546	20692											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	142					0	0	1	0	0	A	40331285	G	A	40331285	2	1	22	1	0	0	0	0	0	0	0	1	5729	1074	38	1		1	FBL	19	40331285	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3998	40331285	18797698	18547	20693											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	207					0	0	1	0	0	A	40354319	G	A	40354319	3	1	22	1	0	0	0	0	1	0	0	0	5811	1319	46	2	75	2	FCGBP	19	40354319	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23034	40354319	18774664	18548	20694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	286					0	0	1	0	0	T	40357401	C	T	40357401	2	4	22	1	0	0	0	0	0	0	0	1	5811	523	19	1		1	FCGBP	19	40357401	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3082	40357401	18771582	18549	20695											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	231					0	0	1	0	0	A	40357450	G	A	40357450	3	1	22	1	0	0	0	0	1	0	0	0	5811	1145	40	1	366	1	FCGBP	19	40357450	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49	40357450	18771533	18550	20696											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	245					0	0	1	0	0	T	40357475	C	T	40357475	3	4	22	1	0	0	0	0	1	0	0	0	5811	893	31	1	391	1	FCGBP	19	40357475	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25	40357475	18771508	18551	20697											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													144	508					0	0	1	0	0	T	40362919	C	T	40362919	3	4	22	1	0	0	0	0	1	0	0	0	5811	652	23	1	1086	1	FCGBP	19	40362919	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5444	40362919	18766064	18552	20698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	352					0	0	1	0	0	A	40368526	G	A	40368526	2	1	22	1	0	0	0	0	0	0	0	1	5811	1140	40	1		1	FCGBP	19	40368526	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5607	40368526	18760457	18553	20699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	869					0	0	1	0	0	T	40384075	C	T	40384075	3	4	22	1	0	0	0	0	1	0	0	0	5811	536	19	1	6746	1	FCGBP	19	40384075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15549	40384075	18744908	18554	20700											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	382					0	0	1	0	0	A	40408716	G	A	40408716	3	1	22	1	0	0	0	0	1	0	0	0	5811	1086	38	1	12210	1	FCGBP	19	40408716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24641	40408716	18720267	18555	20701											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	449					0	0	1	0	0	C	40411738	T	C	40411738	3	2	22	1	0	0	0	0	1	0	0	0	5811	1725	60	3	12447	3	FCGBP	19	40411738	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3022	40411738	18717245	18556	20702											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	78					0	0	1	0	0	C	40421334	T	C	40421334	3	2	22	1	0	0	0	0	1	0	0	0	5811	1667	58	3	13758	3	FCGBP	19	40421334	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9596	40421334	18707649	18557	20703											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													269	1171					0	0	1	0	0	A	40424170	G	A	40424170	3	1	22	1	0	0	0	0	1	0	0	0	5811	1261	44	2	14316	2	FCGBP	19	40424170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2836	40424170	18704813	18558	20704											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	250					0	0	1	0	0	A	40433172	G	A	40433172	3	1	22	1	0	0	0	0	1	0	0	0	5811	971	34	2	15260	2	FCGBP	19	40433172	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9002	40433172	18695811	18559	20705											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	203					0	0	1	0	0	C	40433216	T	C	40433216	2	2	22	1	0	0	0	0	0	0	0	1	5811	1625	57	3		3	FCGBP	19	40433216	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44	40433216	18695767	18560	20706											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	303					0	0	1	0	0	G	40480536	A	G	40480536	3	3	22	1	0	0	0	0	1	0	0	0	12738	72	3	3	593	3	PSMC4	19	40480536	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47320	40480536	18648447	18561	20707											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	135					0	0	1	0	0	A	40485876	G	A	40485876	3	1	22	1	0	0	0	0	1	0	0	0	12738	1058	37	1	852	1	PSMC4	19	40485876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5340	40485876	18643107	18562	20708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	316					0	0	1	0	0	A	40486024	G	A	40486024	3	1	22	1	0	0	0	0	1	0	0	0	12738	1174	41	2	919	2	PSMC4	19	40486024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148	40486024	18642959	18563	20709											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	464					0	0	1	0	0	C	40486618	T	C	40486618	2	2	22	1	0	0	0	0	0	0	0	1	12738	1673	58	3		3	PSMC4	19	40486618	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	594	40486618	18642365	18564	20710											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	200					0	0	1	0	0	T	40504294	C	T	40504294	3	4	22	1	0	0	0	0	1	0	0	0	18035	855	30	2	63	2	ZNF546	19	40504294	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17676	40504294	18624689	18565	20711											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	333					0	0	1	0	0	G	40513257	A	G	40513257	3	3	22	1	0	0	0	0	1	0	0	0	18035	275	10	3	258	3	ZNF546	19	40513257	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8963	40513257	18615726	18566	20712											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	168					0	0	1	0	0	A	40521033	G	A	40521033	3	1	22	1	0	0	0	0	1	0	0	0	18035	1058	37	1	1874	1	ZNF546	19	40521033	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7776	40521033	18607950	18567	20713											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	211					1.51943e-15	1.66198e-15	1	1	0	T	40542318	G	T	40542318	3	4	22	1	0	0	0	0	1	0	0	0	18202	1203	42	2	2057	2	ZNF780B	19	40542318	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21285	40542318	18586665	18568	20714											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Silent_p.K309K|ZNF780A_ENST00000340963.5_Silent_p.K308K|ZNF780A_ENST00000595687.2_Silent_p.K308K|ZNF780A_ENST00000594395.1_Silent_p.K309K|ZNF780A_ENST00000414720.2_Intron			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													167	690					0	0	1	0	0	T	40581425	C	T	40581425	2	4	22	1	0	0	0	0	0	0	0	1	18201	680	24	2		2	ZNF780A	19	40581425	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39107	40581425	18547558	18569	20715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	116					0	0	1	0	0	A	40719444	G	A	40719444	3	1	22	1	0	0	0	0	1	0	0	0	9294	1174	41	2	1892	2	MAP3K10	19	40719444	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138019	40719444	18409539	18570	20716											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	148					0	0	1	0	0	T	40724059	C	T	40724059	3	4	22	1	0	0	0	0	1	0	0	0	16778	884	31	1	501	1	TTC9B	19	40724059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4615	40724059	18404924	18571	20717											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40743876C>A	ENST00000392038.2	-	9	1129	c.831_splice	c.e9+1	p.K277_splice	AKT2_ENST00000579047.1_Splice_Site_p.K215_splice|AKT2_ENST00000311278.6_Splice_Site_p.K277_splice|AKT2_ENST00000424901.1_Splice_Site_p.K277_splice	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 "								9	100					4.36969e-10	4.6211e-10	1	1	0	A	40743876	C	A	40743876	5	1	22	1	0	0	0	0	0	0	1	0	477	695	24	2	638	2	AKT2	19	40743876	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19817	40743876	18385107	18572	20718											
C19orf47	126526	broad.mit.edu	37	chr19	40834399	40834399	+	Frame_Shift_Del	DEL	G	G	-													gtgctggtgtccgggcgcctGgggggtgtgctgggtggaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40834399delG	ENST00000582783.1	-	6	483	c.471delC	c.(469-471)ccfs	p.P157fs	C19orf47_ENST00000392035.2_Frame_Shift_Del_p.P90fs	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	157										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CCGGGCGCCTGGGGGGTGTGC	0.612													8	1159	---	---	---	---						-	40834399	G	-	40834399	7	5	22	1	0	1	0	1	0	0	0	0	1942	1335	47	0	813	0	C19orf47	19	40834399	Frame_Shift_Del	DEL	G	TCGA-IB-7651-01A-11D-2154-08	90523	40834399	18294584	18573	20719											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409281.1_Silent_p.L490L|PLD3_ENST00000409735.4_Silent_p.L490L|PLD3_ENST00000409419.1_Silent_p.L490L|PLD3_ENST00000356508.5_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													109	506					3.0332e-58	3.802e-58	1	1	0	A	40884077	C	A	40884077	2	1	22	1	0	0	0	0	0	0	0	1	12095	900	32	2		2	PLD3	19	40884077	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49678	40884077	18244906	18574	20720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	106					0	0	1	0	0	T	40885655	C	T	40885655	3	4	22	1	0	0	0	0	1	0	0	0	7160	884	31	1	164	1	HIPK4	19	40885655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1578	40885655	18243328	18575	20721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	329					0	0	1	0	0	T	40889760	C	T	40889760	3	4	22	1	0	0	0	0	1	0	0	0	7160	768	27	1	1110	1	HIPK4	19	40889760	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4105	40889760	18239223	18576	20722											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	369					0	0	1	0	0	T	40889978	C	T	40889978	2	4	22	1	0	0	0	0	0	0	0	1	7160	755	27	1		1	HIPK4	19	40889978	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218	40889978	18239005	18577	20723											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	747					0	0	1	0	0	T	40895661	C	T	40895661	3	4	22	1	0	0	0	0	1	0	0	0	7160	768	27	1	1717	1	HIPK4	19	40895661	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5683	40895661	18233322	18578	20724											
PRX	57716	broad.mit.edu	37	chr19	40902345	40902345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccttcgggagtttcacCtcagggagtttcatctcagg	12	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40902345C>T	ENST00000324001.7	-	7	2184	c.1914G>A	c.(1912-1914)gaG>gaA	p.E638E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	638	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)			GGAGTTTCACCTCAGGGAGTT	0.582													20	1051					0	0	1	0	0	T	40902345	C	T	40902345	2	4	22	1	0	0	0	0	0	0	0	1	12691	680	24	2		2	PRX	19	40902345	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6684	40902345	18226638	18579	20725											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													193	771					6.90432e-84	8.84267e-84	1	1	0	A	40902860	C	A	40902860	4	1	22	1	0	0	0	0	0	1	0	0	12691	922	32	2	2990	2	PRX	19	40902860	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	515	40902860	18226123	18580	20726											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	298					0	0	1	0	0	T	40904649	C	T	40904649	3	4	22	1	0	0	0	0	1	0	0	0	12691	768	27	1	4197	1	PRX	19	40904649	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1789	40904649	18224334	18581	20727											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	97					0	0	1	0	0	T	40929186	C	T	40929186	3	4	22	1	0	0	0	0	1	0	0	0	14174	478	17	2	446	2	SERTAD1	19	40929186	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24537	40929186	18199797	18582	20728											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	557					3.21569e-47	3.95668e-47	1	1	0	T	40947463	G	T	40947463	3	4	22	1	0	0	0	0	1	0	0	0	14176	933	33	2	69	2	SERTAD3	19	40947463	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18277	40947463	18181520	18583	20729											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344104.3_Missense_Mutation_p.A2V|SPTBN4_ENST00000598249.1_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													18	108					0	0	1	0	0	T	40978533	C	T	40978533	3	4	22	1	0	0	0	0	1	0	0	0	15177	768	27	1	7	1	SPTBN4	19	40978533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31070	40978533	18150450	18584	20730											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344104.3_Missense_Mutation_p.D400G|SPTBN4_ENST00000598249.1_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													16	339					0	0	1	0	0	G	41008410	A	G	41008410	3	3	22	1	0	0	0	0	1	0	0	0	15177	275	10	3	1233	3	SPTBN4	19	41008410	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29877	41008410	18120573	18585	20731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344104.3_Silent_p.A497A|SPTBN4_ENST00000598249.1_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													16	284					0	0	1	0	0	T	41009865	C	T	41009865	2	4	22	1	0	0	0	0	0	0	0	1	15177	639	23	1		1	SPTBN4	19	41009865	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1455	41009865	18119118	18586	20732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344104.3_Silent_p.V916V|SPTBN4_ENST00000598249.1_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													7	72					0	0	1	0	0	T	41019444	C	T	41019444	2	4	22	1	0	0	0	0	0	0	0	1	15177	871	31	1		1	SPTBN4	19	41019444	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9579	41019444	18109539	18587	20733											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344104.3_Splice_Site|SPTBN4_ENST00000598249.1_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													5	89					0.014758	0.0148251	1	1	0	T	41021217	G	T	41021217	5	4	22	1	0	0	0	0	0	0	1	0	15177	956	33	2	2819	2	SPTBN4	19	41021217	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1773	41021217	18107766	18588	20734											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392023.1_Silent_p.L109L|SPTBN4_ENST00000595535.1_Silent_p.L1433L|SPTBN4_ENST00000392025.1_Silent_p.L176L|SPTBN4_ENST00000598249.1_Silent_p.L1433L|SPTBN4_ENST00000338932.3_Silent_p.L1433L			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													6	233					0	0	1	0	0	T	41040188	C	T	41040188	2	4	22	1	0	0	0	0	0	0	0	1	15177	796	28	2		2	SPTBN4	19	41040188	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18971	41040188	18088795	18589	20735											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392023.1_Missense_Mutation_p.R383H|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			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													25	143					0	0	1	0	0	A	41062025	G	A	41062025	3	1	22	1	0	0	0	0	1	0	0	0	15177	1087	38	1	5214	1	SPTBN4	19	41062025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21837	41062025	18066958	18590	20736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392023.1_Missense_Mutation_p.A503D|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			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													60	214					4.96213e-28	5.76155e-28	1	1	0	A	41063119	C	A	41063119	3	1	22	1	0	0	0	0	1	0	0	0	15177	739	26	2	5578	2	SPTBN4	19	41063119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1094	41063119	18065864	18591	20737											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000243562.9_Missense_Mutation_p.S30N|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.S865N|LTBP4_ENST00000545697.1_Missense_Mutation_p.S385N|LTBP4_ENST00000204005.9_Missense_Mutation_p.S895N	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													43	165					0	0	1	0	0	A	41119858	G	A	41119858	3	1	22	1	0	0	0	0	1	0	0	0	9121	971	34	2	3170	2	LTBP4	19	41119858	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56739	41119858	18009125	18592	20738											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000243562.9_Silent_p.L168L|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Silent_p.L1047L|LTBP4_ENST00000545697.1_Silent_p.L482L|LTBP4_ENST00000204005.9_Silent_p.L1077L	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													53	366					1.21353e-23	1.38083e-23	1	1	0	A	41125325	C	A	41125325	2	1	22	1	0	0	0	0	0	0	0	1	9121	900	32	2		2	LTBP4	19	41125325	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5467	41125325	18003658	18593	20739											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1533C|LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.R1563C	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													27	258					0	0	1	0	0	T	41135381	C	T	41135381	3	4	22	1	0	0	0	0	1	0	0	0	9121	652	23	1	5223	1	LTBP4	19	41135381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10056	41135381	17993602	18594	20740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	49					0	0	1	0	0	T	41173718	C	T	41173718	2	4	22	1	0	0	0	0	0	0	0	1	10800	639	23	1		1	NUMBL	19	41173718	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38337	41173718	17955265	18595	20741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	37					0	0	1	0	0	A	41173926	G	A	41173926	3	1	22	1	0	0	0	0	1	0	0	0	10800	1203	42	2	556	2	NUMBL	19	41173926	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	208	41173926	17955057	18596	20742											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	315					0	0	1	0	0	A	41188694	G	A	41188694	3	1	22	1	0	0	0	0	1	0	0	0	10800	1174	41	2	1515	2	NUMBL	19	41188694	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14768	41188694	17940289	18597	20743											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	57					0	0	1	0	0	A	41198107	G	A	41198107	3	1	22	1	0	0	0	0	1	0	0	0	289	1116	39	1	170	1	ADCK4	19	41198107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9413	41198107	17930876	18598	20744											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	644					0	0	1	0	0	T	41201931	C	T	41201931	3	4	22	1	0	0	0	0	1	0	0	0	289	652	23	1	474	1	ADCK4	19	41201931	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3824	41201931	17927052	18599	20745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|EGLN2_ENST00000303961.4_Silent_p.R113R|RAB4B-EGLN2_ENST00000594136.1_3'UTR			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													11	93					3.86212e-05	3.93988e-05	1	1	0	T	41306816	G	T	41306816	2	4	22	1	0	0	0	0	0	0	0	1	4995	1190	42	2		2	EGLN2	19	41306816	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104885	41306816	17822167	18600	20746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Nonsense_Mutation_p.Q25*	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													50	227					0	0	1	0	0	A	41388043	G	A	41388043	4	1	22	1	0	0	0	0	0	1	0	0	4186	1328	46	2	1457	2	CYP2A7	19	41388043	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81227	41388043	17740940	18601	20747											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	313					0	0	1	0	0	T	41509926	C	T	41509926	2	4	22	1	0	0	0	0	0	0	0	1	4187	535	19	1		1	CYP2B6	19	41509926	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121883	41509926	17619057	18602	20748											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	486					4.98035e-58	6.24236e-58	1	1	0	T	41509980	G	T	41509980	3	4	22	1	0	0	0	0	1	0	0	0	4187	991	35	2	252	2	CYP2B6	19	41509980	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54	41509980	17619003	18603	20749											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	180					0	0	1	0	0	A	41518231	G	A	41518231	2	1	22	1	0	0	0	0	0	0	0	1	4187	1277	45	2		2	CYP2B6	19	41518231	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8251	41518231	17610752	18604	20750											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	269					4.17463e-26	4.80398e-26	1	1	0	A	41594992	C	A	41594992	2	1	22	1	0	0	0	0	0	0	0	1	4184	784	28	2		2	CYP2A13	19	41594992	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76761	41594992	17533991	18605	20751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	432					0	0	1	0	0	T	41596450	C	T	41596450	3	4	22	1	0	0	0	0	1	0	0	0	4184	536	19	1	649	1	CYP2A13	19	41596450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1458	41596450	17532533	18606	20752											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	426					0	0	1	0	0	T	41600274	C	T	41600274	2	4	22	1	0	0	0	0	0	0	0	1	4184	842	30	2		2	CYP2A13	19	41600274	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3824	41600274	17528709	18607	20753											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	435					1.92282e-43	2.34754e-43	1	1	0	T	41601664	G	T	41601664	5	4	22	1	0	0	0	0	0	0	1	0	4184	1014	35	2	1337	2	CYP2A13	19	41601664	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1390	41601664	17527319	18608	20754											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	537					7.5252e-50	9.31431e-50	1	1	0	A	41626311	C	A	41626311	3	1	22	1	0	0	0	0	1	0	0	0	4194	912	32	2	404	2	CYP2F1	19	41626311	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24647	41626311	17502672	18609	20755											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	181					0	0	1	0	0	T	41633864	C	T	41633864	2	4	22	1	0	0	0	0	0	0	0	1	4194	639	23	1		1	CYP2F1	19	41633864	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7553	41633864	17495119	18610	20756											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													130	678					0	0	1	0	0	T	41704369	C	T	41704369	3	4	22	1	0	0	0	0	1	0	0	0	4197	536	19	1	510	1	CYP2S1	19	41704369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70505	41704369	17424614	18611	20757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	614					0	0	1	0	0	A	41704625	G	A	41704625	3	1	22	1	0	0	0	0	1	0	0	0	4197	1377	48	2	684	2	CYP2S1	19	41704625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	256	41704625	17424358	18612	20758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000594880.1_3'UTR|AXL_ENST00000359092.3_Missense_Mutation_p.R55Q	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	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													32	96					0	0	1	0	0	A	41726619	G	A	41726619	3	1	22	1	0	0	0	0	1	0	0	0	1236	1116	39	1	170	1	AXL	19	41726619	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21994	41726619	17402364	18613	20759											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000594880.1_3'UTR|AXL_ENST00000359092.3_Missense_Mutation_p.Q59H	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	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													27	125					4.59853e-10	4.86106e-10	1	1	0	T	41726632	G	T	41726632	3	4	22	1	0	0	0	0	1	0	0	0	1236	991	35	2	183	2	AXL	19	41726632	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13	41726632	17402351	18614	20760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359092.3_Missense_Mutation_p.L446I|AXL_ENST00000593513.1_Missense_Mutation_p.L187I	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	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													97	399					6.42612e-47	7.90343e-47	1	1	0	A	41748838	C	A	41748838	3	1	22	1	0	0	0	0	1	0	0	0	1236	796	28	2	1405	2	AXL	19	41748838	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22206	41748838	17380145	18615	20761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359092.3_Silent_p.E789E|AXL_ENST00000593513.1_Silent_p.E530E	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	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													51	237					0	0	1	0	0	A	41765518	G	A	41765518	2	1	22	1	0	0	0	0	0	0	0	1	1236	962	34	2		2	AXL	19	41765518	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16680	41765518	17363465	18616	20762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378215.4_Missense_Mutation_p.R412C|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R437C|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R426C|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R426C|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R526C|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													135	488					0	0	1	0	0	T	41807498	C	T	41807498	3	4	22	1	0	0	0	0	1	0	0	0	7315	768	27	1	1618	1	HNRNPUL1	19	41807498	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41980	41807498	17321485	18617	20763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													159	629					0	0	1	0	0	A	41854288	G	A	41854288	3	1	22	1	0	0	0	0	1	0	0	0	15876	1087	38	1	768	1	TGFB1	19	41854288	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46790	41854288	17274695	18618	20764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TMEM91_ENST00000539627.1_Intron|TMEM91_ENST00000604123.1_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													41	250					0	0	1	0	0	A	41860620	G	A	41860620	2	1	22	1	0	0	0	0	0	0	0	1	1276	1140	40	1		1	B9D2	19	41860620	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6332	41860620	17268363	18619	20765											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413014.2_5'UTR|TMEM91_ENST00000436170.2_5'UTR|TMEM91_ENST00000544232.1_5'UTR|TMEM91_ENST00000542945.1_5'UTR|TMEM91_ENST00000392002.2_5'UTR|TMEM91_ENST00000356385.4_5'UTR|CTC-435M10.3_ENST00000540732.1_5'UTR|TMEM91_ENST00000447302.2_5'UTR|TMEM91_ENST00000539627.1_5'UTR					transmembrane protein 91											lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						TTCCCCAAAGCCATGGACAGC	0.547													73	420					0	0	1	0	0	T	41884213	C	T	41884213	3	4	22	1	0	0	0	0	1	0	0	0	16280	754	26	2	1	2	TMEM91	19	41884213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23593	41884213	17244770	18620	20766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_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													5	55					0	0	1	0	0	A	41892608	G	A	41892608	3	1	22	1	0	0	0	0	1	0	0	0	5345	1203	42	2	73	2	EXOSC5	19	41892608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8395	41892608	17236375	18621	20767											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000401445.2_Missense_Mutation_p.S96I|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000407170.2_5'UTR	NM_001098506.1|NM_033543.3	NP_001091976.1|NP_291021.2	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													42	257					4.01765e-15	4.38033e-15	1	1	0	T	42083774	G	T	42083774	3	4	22	1	0	0	0	0	1	0	0	0	3214	971	34	2	293	2	CEACAM21	19	42083774	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191166	42083774	17045209	18622	20768											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													166	749					0	0	1	0	0	T	42132106	C	T	42132106	3	4	22	1	0	0	0	0	1	0	0	0	3216	884	31	1	465	1	CEACAM4	19	42132106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48332	42132106	16996877	18623	20769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000599715.1_Intron|CEACAM7_ENST00000401731.1_Missense_Mutation_p.S3P|CEACAM7_ENST00000602225.1_Missense_Mutation_p.S3P|CEACAM7_ENST00000338196.4_Missense_Mutation_p.S3P	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													48	228					0	0	1	0	0	G	42192088	A	G	42192088	3	3	22	1	0	0	0	0	1	0	0	0	3219	275	10	3	806	3	CEACAM7	19	42192088	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	59982	42192088	16936895	18624	20770											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	296					0	0	1	0	0	A	42219576	G	A	42219576	2	1	22	1	0	0	0	0	0	0	0	1	3217	1103	39	1		1	CEACAM5	19	42219576	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27488	42219576	16909407	18625	20771											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	358					0	0	1	0	0	A	42222194	T	A	42222194	3	1	22	1	0	0	0	0	1	0	0	0	3217	1551	54	5	1407	5	CEACAM5	19	42222194	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2618	42222194	16906789	18626	20772											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													131	682					0	0	1	0	0	T	42223929	C	T	42223929	3	4	22	1	0	0	0	0	1	0	0	0	3217	507	18	2	1599	2	CEACAM5	19	42223929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1735	42223929	16905054	18627	20773											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													256	1220					0	0	1	0	0	G	42260853	A	G	42260853	3	3	22	1	0	0	0	0	1	0	0	0	3218	188	7	3	416	3	CEACAM6	19	42260853	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36924	42260853	16868130	18628	20774											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	225					6.34439e-16	6.95021e-16	1	1	0	T	42266125	G	T	42266125	3	4	22	1	0	0	0	0	1	0	0	0	3218	1029	36	2	966	2	CEACAM6	19	42266125	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5272	42266125	16862858	18629	20775											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													175	743					0	0	1	0	0	T	42301583	C	T	42301583	3	4	22	1	0	0	0	0	1	0	0	0	3215	797	28	2	133	2	CEACAM3	19	42301583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35458	42301583	16827400	18630	20776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													141	1038					0	0	1	0	0	T	42301744	C	T	42301744	2	4	22	1	0	0	0	0	0	0	0	1	3215	767	27	1		1	CEACAM3	19	42301744	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161	42301744	16827239	18631	20777											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343055.4_Silent_p.A132A|LYPD4_ENST00000601246.1_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													11	203					0	0	1	0	0	T	42342046	A	T	42342046	2	4	22	1	0	0	0	0	0	0	0	1	9158	59	3	5		5	LYPD4	19	42342046	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40302	42342046	16786937	18632	20778											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343055.4_Missense_Mutation_p.S99Y|LYPD4_ENST00000601246.1_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													14	346					1.49906e-05	1.53515e-05	1	1	0	T	42342146	G	T	42342146	3	4	22	1	0	0	0	0	1	0	0	0	9158	942	33	2	347	2	LYPD4	19	42342146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100	42342146	16786837	18633	20779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343055.4_Intron|LYPD4_ENST00000601246.1_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													131	497					0	0	1	0	0	A	42342983	G	A	42342983	2	1	22	1	0	0	0	0	0	0	0	1	9158	1079	38	1		1	LYPD4	19	42342983	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	837	42342983	16786000	18634	20780											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	276					7.50695e-29	8.75429e-29	1	1	0	A	42343377	C	A	42343377	1	1	22	1	0	0	0	0	0	0	0	0	9158	696	24	2		2	LYPD4	19	42343377	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	394	42343377	16785606	18635	20781											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													288	624					0	0	1	0	0	A	42352907	G	A	42352907	2	1	22	1	0	0	0	0	0	0	0	1	4619	1074	38	1		1	DMRTC2	19	42352907	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9530	42352907	16776076	18636	20782											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000347545.4_Missense_Mutation_p.E157D|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E172D|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.E190D			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													27	99					2.48779e-11	2.65321e-11	1	1	0	T	42396876	G	T	42396876	3	4	22	1	0	0	0	0	1	0	0	0	890	962	34	2	641	2	ARHGEF1	19	42396876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43969	42396876	16732107	18637	20783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000347545.4_Missense_Mutation_p.V462M|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.V477M|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.V495M			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													53	279					0	0	1	0	0	A	42406492	G	A	42406492	3	1	22	1	0	0	0	0	1	0	0	0	890	1145	40	1	1590	1	ARHGEF1	19	42406492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9616	42406492	16722491	18638	20784											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543770.1_Missense_Mutation_p.V600I|ATP1A3_ENST00000602133.1_Missense_Mutation_p.V559I|ATP1A3_ENST00000302102.5_Missense_Mutation_p.V589I	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													48	226					0	0	1	0	0	T	42482344	C	T	42482344	3	4	22	1	0	0	0	0	1	0	0	0	1129	536	19	1	1320	1	ATP1A3	19	42482344	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75852	42482344	16646639	18639	20785											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	425					0	0	1	0	0	A	42546761	G	A	42546761	2	1	22	1	0	0	0	0	0	0	0	1	6818	1140	40	1		1	GRIK5	19	42546761	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64417	42546761	16582222	18640	20786											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF574_ENST00000359044.4_Missense_Mutation_p.R286W|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.R376W			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													112	467					0	0	1	0	0	T	42583614	C	T	42583614	3	4	22	1	0	0	0	0	1	0	0	0	18063	759	27	1	858	1	ZNF574	19	42583614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36853	42583614	16545369	18641	20787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359044.4_Silent_p.H760H|ZNF574_ENST00000222339.7_Silent_p.H850H			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													215	1067					0	0	1	0	0	T	42585038	C	T	42585038	2	4	22	1	0	0	0	0	0	0	0	1	18063	477	17	2		2	ZNF574	19	42585038	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1424	42585038	16543945	18642	20788											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359044.4_Missense_Mutation_p.R813H|ZNF574_ENST00000222339.7_Missense_Mutation_p.R903H			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													96	425					0	0	1	0	0	A	42585196	G	A	42585196	3	1	22	1	0	0	0	0	1	0	0	0	18063	1087	38	1	2440	1	ZNF574	19	42585196	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158	42585196	16543787	18643	20789											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	214					0	0	1	0	0	T	42729326	C	T	42729326	2	4	22	1	0	0	0	0	0	0	0	1	18024	871	31	1		1	ZNF526	19	42729326	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144130	42729326	16399657	18644	20790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	495					0	0	1	0	0	T	42752816	C	T	42752816	3	4	22	1	0	0	0	0	1	0	0	0	5249	768	27	1	202	1	ERF	19	42752816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23490	42752816	16376167	18645	20791											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													187	693					2.08549e-97	2.68121e-97	1	1	0	A	42753023	C	A	42753023	3	1	22	1	0	0	0	0	1	0	0	0	5249	623	22	2	409	2	ERF	19	42753023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207	42753023	16375960	18646	20792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	297					0	0	1	0	0	T	42753278	C	T	42753278	3	4	22	1	0	0	0	0	1	0	0	0	5249	768	27	1	664	1	ERF	19	42753278	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255	42753278	16375705	18647	20793											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	159					2.68265e-12	2.87809e-12	1	1	0	A	42753347	C	A	42753347	3	1	22	1	0	0	0	0	1	0	0	0	5249	797	28	2	733	2	ERF	19	42753347	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69	42753347	16375636	18648	20794											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000575354.2_Missense_Mutation_p.S278N|CIC_ENST00000160740.3_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								6	84					0	0	1	0	0	A	42792029	G	A	42792029	3	1	22	1	0	0	0	0	1	0	0	0	3446	971	34	2	855	2	CIC	19	42792029	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38682	42792029	16336954	18649	20795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000575354.2_Silent_p.P722P|CIC_ENST00000160740.3_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								38	181					0	0	1	0	0	A	42795086	G	A	42795086	2	1	22	1	0	0	0	0	0	0	0	1	3446	1074	38	1		1	CIC	19	42795086	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3057	42795086	16333897	18650	20796											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000575354.2_Missense_Mutation_p.A1243T|CIC_ENST00000160740.3_Missense_Mutation_p.A1241T			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								8	57					0	0	1	0	0	A	42797365	G	A	42797365	3	1	22	1	0	0	0	0	1	0	0	0	3446	1203	42	2	3785	2	CIC	19	42797365	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2279	42797365	16331618	18651	20797											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000575354.2_Missense_Mutation_p.A1544T|CIC_ENST00000160740.3_Missense_Mutation_p.A1542T			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								35	121					0	0	1	0	0	A	42799146	G	A	42799146	3	1	22	1	0	0	0	0	1	0	0	0	3446	1087	38	1	4708	1	CIC	19	42799146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1781	42799146	16329837	18652	20798											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	765					3.32936e-07	3.45006e-07	1	1	0	A	42804140	C	A	42804140	3	1	22	1	0	0	0	0	1	0	0	0	11433	680	24	2	313	2	PAFAH1B3	19	42804140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4994	42804140	16324843	18653	20799											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	245					0	0	1	0	0	A	42837896	G	A	42837896	2	1	22	1	0	0	0	0	0	0	0	1	9513	1074	38	1		1	MEGF8	19	42837896	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33756	42837896	16291087	18654	20800											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	151					5.73435e-26	6.59582e-26	1	1	0	A	42848687	C	A	42848687	3	1	22	1	0	0	0	0	1	0	0	0	9513	681	24	2	1925	2	MEGF8	19	42848687	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10791	42848687	16280296	18655	20801											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	34					0	0	1	0	0	G	42857101	T	G	42857101	3	3	22	1	0	0	0	0	1	0	0	0	9513	1461	51	3	3245	3	MEGF8	19	42857101	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8414	42857101	16271882	18656	20802											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42858175C>T	ENST00000334370.4	+	21	4444	c.3810_splice	c.e21+1	p.T1270_splice	MEGF8_ENST00000251268.6_Splice_Site_p.T1337_splice	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													9	29					0	0	1	0	0	T	42858175	C	T	42858175	5	4	22	1	0	0	0	0	0	0	1	0	9513	550	19	1	3891	1	MEGF8	19	42858175	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1074	42858175	16270808	18657	20803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	81					3.5997e-14	3.90403e-14	1	1	0	T	42863068	G	T	42863068	4	4	22	1	0	0	0	0	0	1	0	0	9513	1001	35	2	5218	2	MEGF8	19	42863068	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4893	42863068	16265915	18658	20804											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													137	557					0	0	1	0	0	T	42866638	C	T	42866638	4	4	22	1	0	0	0	0	0	1	0	0	9513	760	27	1	5876	1	MEGF8	19	42866638	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3570	42866638	16262345	18659	20805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	84					0	0	1	0	0	T	42867301	C	T	42867301	3	4	22	1	0	0	0	0	1	0	0	0	9513	623	22	2	6093	2	MEGF8	19	42867301	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	663	42867301	16261682	18660	20806											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	94					0	0	1	0	0	C	42874461	T	C	42874461	2	2	22	1	0	0	0	0	0	0	0	1	9513	1722	60	3		3	MEGF8	19	42874461	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7160	42874461	16254522	18661	20807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	336					0	0	1	0	0	T	42880264	C	T	42880264	2	4	22	1	0	0	0	0	0	0	0	1	9513	639	23	1		1	MEGF8	19	42880264	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5803	42880264	16248719	18662	20808											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_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													46	220					6.17242e-35	7.35642e-35	1	1	0	T	42910490	G	T	42910490	3	4	22	1	0	0	0	0	1	0	0	0	8862	1000	35	2	1058	2	LIPE	19	42910490	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30226	42910490	16218493	18663	20809											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_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													8	69					0	0	1	0	0	A	42911420	G	A	42911420	2	1	22	1	0	0	0	0	0	0	0	1	8862	1048	37	1		1	LIPE	19	42911420	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	930	42911420	16217563	18664	20810											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	436					0	0	1	0	0	A	43233933	G	A	43233933	3	1	22	1	0	0	0	0	1	0	0	0	12705	1000	35	2	313	2	PSG3	19	43233933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	322513	43233933	15895050	18665	20811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Silent_p.A356A|PSG8_ENST00000406636.3_Silent_p.A234A|PSG8_ENST00000401467.2_Silent_p.A263A	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													36	1023					0	0	1	0	0	T	43258660	C	T	43258660	2	4	22	1	0	0	0	0	0	0	0	1	12710	639	23	1		1	PSG8	19	43258660	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24727	43258660	15870323	18666	20812											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600709.1_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.L280F|PSG8_ENST00000406636.3_Missense_Mutation_p.L158F|PSG8_ENST00000401467.2_Missense_Mutation_p.L187F	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													196	826					0	0	1	0	0	A	43259290	G	A	43259290	3	1	22	1	0	0	0	0	1	0	0	0	12710	1000	35	2	471	2	PSG8	19	43259290	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	630	43259290	15869693	18667	20813											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	620					0	0	1	0	0	T	43359721	C	T	43359721	2	4	22	1	0	0	0	0	0	0	0	1	12710	638	22	2		2	PSG8	19	43359721	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100431	43359721	15769262	18668	20814											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000403380.3_Missense_Mutation_p.R289C|PSG1_ENST00000312439.6_Missense_Mutation_p.R382C|PSG1_ENST00000595356.1_Missense_Mutation_p.R382C|PSG1_ENST00000595124.1_Missense_Mutation_p.R289C|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													229	1158					0	0	1	0	0	A	43372352	G	A	43372352	3	1	22	1	0	0	0	0	1	0	0	0	12702	1116	39	1	176	1	PSG1	19	43372352	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12631	43372352	15756631	18669	20815											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000403380.3_Nonsense_Mutation_p.G283*|PSG1_ENST00000312439.6_Nonsense_Mutation_p.G376*|PSG1_ENST00000595356.1_Nonsense_Mutation_p.G376*|PSG1_ENST00000595124.1_Nonsense_Mutation_p.G283*|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													198	1090					7.84169e-52	9.74292e-52	1	1	0	A	43372370	C	A	43372370	4	1	22	1	0	0	0	0	0	1	0	0	12702	690	24	2	194	2	PSG1	19	43372370	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18	43372370	15756613	18670	20816											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000306322.7_Missense_Mutation_p.D136N|PSG11_ENST00000320078.7_Missense_Mutation_p.D258N|PSG11_ENST00000403486.1_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													192	714					0	0	1	0	0	T	43519460	C	T	43519460	3	4	22	1	0	0	0	0	1	0	0	0	12703	884	31	1	243	1	PSG11	19	43519460	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147090	43519460	15609523	18671	20817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000342951.6_Missense_Mutation_p.K314T|PSG5_ENST00000366175.3_Missense_Mutation_p.K314T|PSG5_ENST00000599812.1_Missense_Mutation_p.K407T|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Missense_Mutation_p.K314T			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													188	1002					0	0	1	0	0	G	43679390	T	G	43679390	3	3	22	1	0	0	0	0	1	0	0	0	12707	1841	64	3	74	3	PSG5	19	43679390	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	159930	43679390	15449593	18672	20818											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000342951.6_Missense_Mutation_p.G86S|PSG5_ENST00000366175.3_Missense_Mutation_p.G86S|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000599812.1_Missense_Mutation_p.G86S|PSG5_ENST00000407568.1_Missense_Mutation_p.G86S|PSG5_ENST00000407356.1_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													335	1395					0	0	1	0	0	T	43689108	C	T	43689108	3	4	22	1	0	0	0	0	1	0	0	0	12707	652	23	1	767	1	PSG5	19	43689108	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9718	43689108	15439875	18673	20819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													188	800					2.04701e-75	2.61054e-75	1	1	0	A	43698728	C	A	43698728	3	1	22	1	0	0	0	0	1	0	0	0	12706	797	28	2	260	2	PSG4	19	43698728	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9620	43698728	15430255	18674	20820											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43763286C>T	ENST00000418820.2	-	3	530	c.430_splice	c.e3-1	p.S144_splice	PSG9_ENST00000443718.3_Splice_Site_p.S144_splice|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000270077.3_Splice_Site_p.P237_splice|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|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													172	988					0	0	1	0	0	T	43763286	C	T	43763286	5	4	22	1	0	0	0	0	0	0	1	0	12711	898	31	1	581	1	PSG9	19	43763286	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64558	43763286	15365697	18675	20821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443718.3_Intron|PSG9_ENST00000270077.3_Silent_p.E172E|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000418820.2_Intron|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													294	1216					0	0	1	0	0	T	43766205	C	T	43766205	2	4	22	1	0	0	0	0	0	0	0	1	12711	912	32	2		2	PSG9	19	43766205	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2919	43766205	15362778	18676	20822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43858420C>T	ENST00000378009.4	+	0	297				CD177_ENST00000607517.1_RNA|CD177_ENST00000378012.2_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													43	178					0	0	1	0	0	T	43858420	C	T	43858420	1	4	22	0	1	0	0	0	0	0	0	0	2993	755	27	1		1	CD177	19	43858420	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92215	43858420	15270563	18677	20823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43858441C>A	ENST00000378009.4	+	0	318				CD177_ENST00000607517.1_RNA|CD177_ENST00000378012.2_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													46	211					5.48756e-27	6.34209e-27	1	1	0	A	43858441	C	A	43858441	1	1	22	0	1	0	0	0	0	0	0	0	2993	726	26	2		2	CD177	19	43858441	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21	43858441	15270542	18678	20824											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	97					1	1	1	1	0	A	43998922	C	A	43998922	3	1	22	1	0	0	0	0	1	0	0	0	11901	855	30	2	873	2	PHLDB3	19	43998922	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140481	43998922	15130061	18679	20825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	219					0	0	1	0	0	T	44015646	C	T	44015646	3	4	22	1	0	0	0	0	1	0	0	0	5300	739	26	2	332	2	ETHE1	19	44015646	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16724	44015646	15113337	18680	20826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					53	225					0	0	1	0	0	A	44056975	G	A	44056975	3	1	22	1	0	0	0	0	1	0	0	0	17512	1059	37	1	1144	1	XRCC1	19	44056975	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41329	44056975	15072008	18681	20827											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	245					0	0	1	0	0	T	44097296	C	T	44097296	3	4	22	1	0	0	0	0	1	0	0	0	7883	768	27	1	1121	1	IRGQ	19	44097296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40321	44097296	15031687	18682	20828											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44101344C>T	ENST00000336564.4	+	2	238	c.85_splice	c.e2+1	p.I28_splice	ZNF576_ENST00000528387.1_Splice_Site_p.I28_splice|ZNF576_ENST00000529930.1_Splice_Site_p.I28_splice|SRRM5_ENST00000526798.1_5'UTR|ZNF576_ENST00000391965.2_Splice_Site_p.I28_splice|ZNF576_ENST00000533118.1_Splice_Site_p.I28_splice|SRRM5_ENST00000607544.1_5'UTR|ZNF576_ENST00000525771.1_Splice_Site_p.I28_splice	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													67	204					0	0	1	0	0	T	44101344	C	T	44101344	5	4	22	1	0	0	0	0	0	0	1	0	18065	927	32	2	86	2	ZNF576	19	44101344	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4048	44101344	15027639	18683	20829											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	13	59					0	0	1	0	0	A	44278573	G	A	44278573	2	1	22	1	0	0	0	0	0	0	0	1	8125	962	34	2		2	KCNN4	19	44278573	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177229	44278573	14850410	18684	20830											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	523					0	0	1	0	0	A	44285001	G	A	44285001	2	1	22	1	0	0	0	0	0	0	0	1	8125	933	33	2		2	KCNN4	19	44285001	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6428	44285001	14843982	18685	20831											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	404					0	0	1	0	0	T	44418337	C	T	44418337	2	4	22	1	0	0	0	0	0	0	0	1	17978	564	20	2		2	ZNF45	19	44418337	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133336	44418337	14710646	18686	20832											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000587682.1_Missense_Mutation_p.R320H|ZNF221_ENST00000592350.1_Missense_Mutation_p.R320H	NM_013359.2	NP_037491.2	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													165	735					0	0	1	0	0	A	44470613	G	A	44470613	3	1	22	1	0	0	0	0	1	0	0	0	17833	1145	40	1	973	1	ZNF221	19	44470613	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52276	44470613	14658370	18687	20833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000587682.1_Missense_Mutation_p.K535T|ZNF221_ENST00000592350.1_Missense_Mutation_p.K535T	NM_013359.2	NP_037491.2	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													94	397					0	0	1	0	0	C	44471258	A	C	44471258	3	2	22	1	0	0	0	0	1	0	0	0	17833	14	1	3	1618	3	ZNF221	19	44471258	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	645	44471258	14657725	18688	20834											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590615.1_Missense_Mutation_p.K481T|ZNF155_ENST00000407951.2_Missense_Mutation_p.K492T|RP11-15A1.7_ENST00000586860.1_RNA|RP11-15A1.7_ENST00000589021.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	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													143	600					0	0	1	0	0	C	44501451	A	C	44501451	3	2	22	1	0	0	0	0	1	0	0	0	17794	14	1	3	1456	3	ZNF155	19	44501451	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30193	44501451	14627532	18689	20835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	327					3.13765e-25	3.59736e-25	1	1	0	T	44514566	G	T	44514566	3	4	22	1	0	0	0	0	1	0	0	0	17842	991	35	2	389	2	ZNF230	19	44514566	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13115	44514566	14614417	18690	20836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	554					0	0	1	0	0	A	44515396	G	A	44515396	3	1	22	1	0	0	0	0	1	0	0	0	17842	971	34	2	1219	2	ZNF230	19	44515396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	830	44515396	14613587	18691	20837											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													185	758					0	0	1	0	0	T	44605038	C	T	44605038	4	4	22	1	0	0	0	0	0	1	0	0	17836	876	31	1	106	1	ZNF224	19	44605038	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89642	44605038	14523945	18692	20838											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	355					0	0	1	0	0	C	44612103	A	C	44612103	3	2	22	1	0	0	0	0	1	0	0	0	17836	14	1	3	1804	3	ZNF224	19	44612103	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7065	44612103	14516880	18693	20839											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	211					0	0	1	0	0	G	44622685	T	G	44622685	3	3	22	1	0	0	0	0	1	0	0	0	17837	1725	60	3	203	3	ZNF225	19	44622685	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10582	44622685	14506298	18694	20840											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590612.1_Missense_Mutation_p.R420I|ZNF225_ENST00000592780.1_3'UTR	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													114	447					9.16818e-52	1.13871e-51	1	1	0	T	44636026	G	T	44636026	3	4	22	1	0	0	0	0	1	0	0	0	17837	942	33	2	1273	2	ZNF225	19	44636026	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13341	44636026	14492957	18695	20841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590612.1_Silent_p.S469S|ZNF225_ENST00000592780.1_3'UTR	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													99	381					0	0	1	0	0	A	44636174	G	A	44636174	2	1	22	1	0	0	0	0	0	0	0	1	17837	1132	40	1		1	ZNF225	19	44636174	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148	44636174	14492809	18696	20842											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590612.1_Missense_Mutation_p.K650T|ZNF225_ENST00000592780.1_3'UTR	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													31	176					0	0	1	0	0	C	44636716	A	C	44636716	3	2	22	1	0	0	0	0	1	0	0	0	17837	14	1	3	1963	3	ZNF225	19	44636716	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	542	44636716	14492267	18697	20843											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	308					5.52753e-52	6.87006e-52	1	1	0	T	44660497	G	T	44660497	3	4	22	1	0	0	0	0	1	0	0	0	17845	1290	45	2	342	2	ZNF234	19	44660497	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23781	44660497	14468486	18698	20844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													154	612					1.86983e-63	2.36032e-63	1	1	0	T	44661008	G	T	44661008	3	4	22	1	0	0	0	0	1	0	0	0	17845	942	33	2	853	2	ZNF234	19	44661008	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	511	44661008	14467975	18699	20845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	262					0	0	1	0	0	T	44680638	C	T	44680638	3	4	22	1	0	0	0	0	1	0	0	0	17838	855	30	2	1291	2	ZNF226	19	44680638	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19630	44680638	14448345	18700	20846											
ZNF226	7769	broad.mit.edu	37	chr19	44681488	44681488	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccttgacatgcatcagagGgtgcacacaggagaaaaacc	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44681488G>T	ENST00000590089.1	+	7	2440	c.2073G>T	c.(2071-2073)agG>agT	p.R691S	ZNF226_ENST00000454662.2_Missense_Mutation_p.R691S|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.R691S			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	691					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				TGCATCAGAGGGTGCACACAG	0.463													15	442					1.05317e-09	1.11087e-09	1	1	0	T	44681488	G	T	44681488	3	4	22	1	0	0	0	0	1	0	0	0	17838	1223	43	2	2141	2	ZNF226	19	44681488	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	850	44681488	14447495	18701	20847											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF235_ENST00000589799.1_Intron|ZNF227_ENST00000589005.1_Missense_Mutation_p.K747T|ZNF227_ENST00000391961.2_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													33	164					0	0	1	0	0	C	44740976	A	C	44740976	3	2	22	1	0	0	0	0	1	0	0	0	17839	72	3	3	2407	3	ZNF227	19	44740976	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	59488	44740976	14388007	18702	20848											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Silent_p.G442G	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													82	344					0	0	1	0	0	T	44778193	C	T	44778193	2	4	22	1	0	0	0	0	0	0	0	1	17844	784	28	2		2	ZNF233	19	44778193	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37217	44778193	14350790	18703	20849											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_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													83	339					3.30373e-36	3.95205e-36	1	1	0	A	44791924	C	A	44791924	3	1	22	1	0	0	0	0	1	0	0	0	17846	797	28	2	556	2	ZNF235	19	44791924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13731	44791924	14337059	18704	20850											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_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													16	446					5.01169e-05	5.1097e-05	1	1	0	A	44792320	C	A	44792320	3	1	22	1	0	0	0	0	1	0	0	0	17846	913	32	2	952	2	ZNF235	19	44792320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	396	44792320	14336663	18705	20851											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	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													36	629					2.20474e-14	2.39557e-14	1	1	0	A	44932978	C	A	44932978	4	1	22	1	0	0	0	0	0	1	0	0	17840	922	32	2	503	2	ZNF229	19	44932978	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140658	44932978	14196005	18706	20852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	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													103	380					0	0	1	0	0	G	44934204	T	G	44934204	3	3	22	1	0	0	0	0	1	0	0	0	17840	1841	64	3	1729	3	ZNF229	19	44934204	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1226	44934204	14194779	18707	20853											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000592529.1_Missense_Mutation_p.A89V|ZNF180_ENST00000391956.4_Missense_Mutation_p.A91V|ZNF180_ENST00000587047.1_3'UTR|ZNF180_ENST00000586637.1_Silent_p.C125C	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													44	202					0	0	1	0	0	A	44982351	G	A	44982351	3	1	22	1	0	0	0	0	1	0	0	0	17806	1319	46	2	1735	2	ZNF180	19	44982351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48147	44982351	14146632	18708	20854											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	138					0	0	1	0	0	T	45024580	C	T	45024580	1	4	22	0	1	0	0	0	0	0	0	0	3213	623	22	2		2	CEACAM20	19	45024580	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42229	45024580	14104403	18709	20855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PVR_ENST00000406449.4_Silent_p.T59T|PVR_ENST00000403059.4_Silent_p.T59T|PVR_ENST00000344956.4_Silent_p.T59T|CTB-171A8.1_ENST00000590796.1_RNA	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													17	79					0	0	1	0	0	A	45150592	G	A	45150592	2	1	22	1	0	0	0	0	0	0	0	1	12889	1074	38	1		1	PVR	19	45150592	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126012	45150592	13978391	18710	20856											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CEACAM16_ENST00000405314.2_Missense_Mutation_p.Q269H|CTB-171A8.1_ENST00000590796.1_RNA	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													61	233					6.60958e-23	7.49606e-23	1	1	0	T	45209005	G	T	45209005	3	4	22	1	0	0	0	0	1	0	0	0	3210	991	35	2	821	2	CEACAM16	19	45209005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58413	45209005	13919978	18711	20857											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CEACAM16_ENST00000405314.2_Silent_p.G425G|CTB-171A8.1_ENST00000590796.1_RNA	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													113	500					0	0	1	0	0	A	45213775	G	A	45213775	2	1	22	1	0	0	0	0	0	0	0	1	3210	1248	44	2		2	CEACAM16	19	45213775	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4770	45213775	13915208	18712	20858											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								5	43					0	0	1	0	0	T	45260657	C	T	45260657	2	4	22	1	0	0	0	0	0	0	0	1	1373	639	23	1		1	BCL3	19	45260657	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46882	45260657	13868326	18713	20859											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								84	2137					3.33393e-15	3.63836e-15	1	1	0	A	45262730	C	A	45262730	3	1	22	1	0	0	0	0	1	0	0	0	1373	623	22	2	1257	2	BCL3	19	45262730	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2073	45262730	13866253	18714	20860											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	13	283					0	0	1	0	0	T	45287578	C	T	45287578	2	4	22	1	0	0	0	0	0	0	0	1	2720	796	28	2		2	CBLC	19	45287578	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24848	45287578	13841405	18715	20861											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45322676G>A	ENST00000391955.1	+	12	1591	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)	516	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													128	513					0	0	1	0	0	A	45322676	G	A	45322676	3	1	22	1	0	0	0	0	1	0	0	0	1342	971	34	2	1593	2	BCAM	19	45322676	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35098	45322676	13806307	18716	20862											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	284					3.13765e-25	3.59736e-25	1	1	0	T	45391366	G	T	45391366	5	4	22	1	0	0	0	0	0	0	1	0	12892	1014	35	2	1783	2	PVRL2	19	45391366	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68690	45391366	13737617	18717	20863											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	35					0	0	1	0	0	T	45412285	C	T	45412285	2	4	22	1	0	0	0	0	0	0	0	1	799	755	27	1		1	APOE	19	45412285	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20919	45412285	13716698	18718	20864	139	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	44					0	0	1	0	0	A	45412290	G	A	45412290	3	1	22	1	0	0	0	0	1	0	0	0	799	1087	38	1	747	1	APOE	19	45412290	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	45412290	13716693	18719	20865	139	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000546079.1_Silent_p.D147D|CLPTM1_ENST00000337392.5_Silent_p.D249D|CLPTM1_ENST00000589158.1_3'UTR			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													68	347					0	0	1	0	0	T	45489787	C	T	45489787	2	4	22	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	18720	20866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000546079.1_Silent_p.N193N|CLPTM1_ENST00000337392.5_Silent_p.N295N|CLPTM1_ENST00000589158.1_3'UTR			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													176	832					0	0	1	0	0	T	45490528	C	T	45490528	2	4	22	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	18721	20867											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	261					0	0	1	0	0	A	45496135	G	A	45496135	3	1	22	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	18722	20868											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	324					0	0	1	0	0	A	45575632	G	A	45575632	3	1	22	1	0	0	0	0	1	0	0	0	17885	1232	43	2	776	2	ZNF296	19	45575632	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79497	45575632	13553351	18723	20869											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_024108.1	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													22	83					0	0	1	0	0	A	45668402	G	A	45668402	2	1	22	1	0	0	0	0	0	0	0	1	16524	1190	42	2		2	TRAPPC6A	19	45668402	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92770	45668402	13460581	18724	20870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	171					0	0	1	0	0	T	45762366	C	T	45762366	2	4	22	1	0	0	0	0	0	0	0	1	9365	697	25	2		2	MARK4	19	45762366	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93964	45762366	13366617	18725	20871											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	371					0	0	1	0	0	T	45774951	C	T	45774951	2	4	22	1	0	0	0	0	0	0	0	1	9365	535	19	1		1	MARK4	19	45774951	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12585	45774951	13354032	18726	20872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	322					0	0	1	0	0	C	45781209	A	C	45781209	3	2	22	1	0	0	0	0	1	0	0	0	9365	72	3	3	849	3	MARK4	19	45781209	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6258	45781209	13347774	18727	20873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													244	1112					0	0	1	0	0	A	45805679	G	A	45805679	3	1	22	1	0	0	0	0	1	0	0	0	9365	1058	37	1	2120	1	MARK4	19	45805679	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24470	45805679	13323304	18728	20874											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	490					3.32936e-07	3.45006e-07	1	1	0	A	45805761	C	A	45805761	2	1	22	1	0	0	0	0	0	0	0	1	9365	638	22	2		2	MARK4	19	45805761	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82	45805761	13323222	18729	20875											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	115					0	0	1	0	0	T	45810739	C	T	45810739	3	4	22	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	18730	20876											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	200					6.03168e-27	6.96966e-27	1	1	0	A	45821181	C	A	45821181	3	1	22	1	0	0	0	0	1	0	0	0	3471	565	20	2	919	2	CKM	19	45821181	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10442	45821181	13307802	18731	20877											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	174					8.16721e-17	8.9905e-17	1	1	0	T	45821219	G	T	45821219	3	4	22	1	0	0	0	0	1	0	0	0	3471	1261	44	2	957	2	CKM	19	45821219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38	45821219	13307764	18732	20878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000485403.2_Silent_p.V208V|ERCC2_ENST00000391940.4_Silent_p.V208V|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391944.3_Silent_p.V154V	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				28	168					1.77063e-15	1.9355e-15	1	1	0	T	45867704	G	T	45867704	2	4	22	1	0	0	0	0	0	0	0	1	5241	929	33	2		2	ERCC2	19	45867704	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46485	45867704	13261279	18733	20879											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	235					0	0	1	0	0	A	45885941	G	A	45885941	2	1	22	1	0	0	0	0	0	0	0	1	12407	1140	40	1		1	PPP1R13L	19	45885941	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18237	45885941	13243042	18734	20880											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	211					0	0	1	0	0	T	45888926	C	T	45888926	2	4	22	1	0	0	0	0	0	0	0	1	12407	796	28	2		2	PPP1R13L	19	45888926	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2985	45888926	13240057	18735	20881											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	46					0	0	1	0	0	T	45889369	C	T	45889369	3	4	22	1	0	0	0	0	1	0	0	0	12407	507	18	2	621	2	PPP1R13L	19	45889369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	443	45889369	13239614	18736	20882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589165.1_Silent_p.E216E|ERCC1_ENST00000013807.5_Silent_p.E216E|ERCC1_ENST00000340192.7_Silent_p.E216E|ERCC1_ENST00000591636.1_Intron	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)					45	276					0	0	1	0	0	T	45918173	C	T	45918173	2	4	22	1	0	0	0	0	0	0	0	1	5240	796	28	2		2	ERCC1	19	45918173	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28804	45918173	13210810	18737	20883											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000589165.1_Missense_Mutation_p.E62K|ERCC1_ENST00000013807.5_Missense_Mutation_p.E62K|ERCC1_ENST00000340192.7_Missense_Mutation_p.E62K|ERCC1_ENST00000591636.1_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)					82	364					0	0	1	0	0	T	45924573	C	T	45924573	3	4	22	1	0	0	0	0	1	0	0	0	5240	893	31	1	870	1	ERCC1	19	45924573	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6400	45924573	13204410	18738	20884											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000430715.2_Missense_Mutation_p.R156W|RTN2_ENST00000344680.4_Missense_Mutation_p.R423W|RTN2_ENST00000245923.4_Missense_Mutation_p.R496W			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													77	340					0	0	1	0	0	A	45991740	G	A	45991740	3	1	22	1	0	0	0	0	1	0	0	0	13778	1115	39	1	163	1	RTN2	19	45991740	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67167	45991740	13137243	18739	20885											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PPM1N_ENST00000401705.1_5'UTR|RTN2_ENST00000430715.2_Silent_p.R107R|RTN2_ENST00000344680.4_Silent_p.R374R|RTN2_ENST00000245923.4_Silent_p.R447R			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													14	56					0	0	1	0	0	T	45992145	C	T	45992145	2	4	22	1	0	0	0	0	0	0	0	1	13778	726	26	2		2	RTN2	19	45992145	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	405	45992145	13136838	18740	20886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000430715.2_5'UTR|RTN2_ENST00000344680.4_Intron|RTN2_ENST00000245923.4_Missense_Mutation_p.S334I			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													184	895					7.31253e-68	9.26744e-68	1	1	0	A	45996450	C	A	45996450	3	1	22	1	0	0	0	0	1	0	0	0	13778	797	28	2	664	2	RTN2	19	45996450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4305	45996450	13132533	18741	20887											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Missense_Mutation_p.R78H|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													67	200					0	0	1	0	0	T	45998110	C	T	45998110	3	4	22	1	0	0	0	0	1	0	0	0	13778	768	27	1	1440	1	RTN2	19	45998110	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1660	45998110	13130873	18742	20888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000401593.1_Missense_Mutation_p.S104R|PPM1N_ENST00000401705.1_3'UTR|PPM1N_ENST00000396737.2_3'UTR|PPM1N_ENST00000396735.2_3'UTR|PPM1N_ENST00000396736.2_Missense_Mutation_p.S101R|PPM1N_ENST00000324688.4_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													8	155					0.00448238	0.00451339	1	1	0	A	46005347	C	A	46005347	3	1	22	1	0	0	0	0	1	0	0	0	12395	812	28	2		2	PPM1N	19	46005347	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7237	46005347	13123636	18743	20889											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544371.1_Intron|OPA3_ENST00000323060.3_Missense_Mutation_p.L11M	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													80	324					2.80266e-47	3.44898e-47	1	1	0	T	46087992	G	T	46087992	3	4	22	1	0	0	0	0	1	0	0	0	10920	962	34	2	921	2	OPA3	19	46087992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82645	46087992	13040991	18744	20890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	366					0	0	1	0	0	A	46095003	G	A	46095003	3	1	22	1	0	0	0	0	1	0	0	0	6734	1087	38	1	970	1	GPR4	19	46095003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7011	46095003	13033980	18745	20891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000245925.3_Missense_Mutation_p.R317W|EML2_ENST00000589876.1_Missense_Mutation_p.R317W|EML2_ENST00000587152.1_Missense_Mutation_p.R518W	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													91	329					0	0	1	0	0	A	46124788	G	A	46124788	3	1	22	1	0	0	0	0	1	0	0	0	5125	1086	38	1	1040	1	EML2	19	46124788	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29785	46124788	13004195	18746	20892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000245925.3_Missense_Mutation_p.A207D|EML2_ENST00000589876.1_Missense_Mutation_p.A207D|EML2_ENST00000587152.1_Missense_Mutation_p.A408D|EML2_ENST00000586902.1_5'UTR	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													36	148					4.3181e-19	4.80867e-19	1	1	0	T	46130084	G	T	46130084	3	4	22	1	0	0	0	0	1	0	0	0	5125	971	34	2	1377	2	EML2	19	46130084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5296	46130084	12998899	18747	20893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	809					1.37285e-15	1.50199e-15	1	1	0	T	46198779	G	T	46198779	3	4	22	1	0	0	0	0	1	0	0	0	12927	1029	36	2	446	2	QPCTL	19	46198779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68695	46198779	12930204	18748	20894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	218					0	0	1	0	0	A	46201906	G	A	46201906	2	1	22	1	0	0	0	0	0	0	0	1	12927	962	34	2		2	QPCTL	19	46201906	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3127	46201906	12927077	18749	20895											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	59					0	0	1	0	0	T	46216211	C	T	46216211	2	4	22	1	0	0	0	0	0	0	0	1	5788	796	28	2		2	FBXO46	19	46216211	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14305	46216211	12912772	18750	20896											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|AC074212.6_ENST00000590076.1_RNA|SIX5_ENST00000560168.1_Intron	NM_175875.4	NP_787071.2	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													15	94					0	0	1	0	0	A	46271482	G	A	46271482	2	1	22	1	0	0	0	0	0	0	0	1	14405	963	34	2		2	SIX5	19	46271482	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55271	46271482	12857501	18751	20897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343373.4_Missense_Mutation_p.E434D|DMPK_ENST00000354227.5_Missense_Mutation_p.E419D|DMPK_ENST00000447742.2_Missense_Mutation_p.E419D|DMPK_ENST00000458663.2_Missense_Mutation_p.E419D|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													11	192					3.86212e-05	3.93988e-05	1	1	0	A	46275971	C	A	46275971	3	1	22	1	0	0	0	0	1	0	0	0	4612	680	24	2	648	2	DMPK	19	46275971	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4489	46275971	12853012	18752	20898											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343373.4_Missense_Mutation_p.G351S|DMPK_ENST00000354227.5_Missense_Mutation_p.G341S|DMPK_ENST00000447742.2_Missense_Mutation_p.G341S|DMPK_ENST00000458663.2_Missense_Mutation_p.G341S|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													55	309					0	0	1	0	0	T	46280710	C	T	46280710	3	4	22	1	0	0	0	0	1	0	0	0	4612	594	21	2	907	2	DMPK	19	46280710	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4739	46280710	12848273	18753	20899											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343373.4_Missense_Mutation_p.G217V|DMPK_ENST00000354227.5_Missense_Mutation_p.G207V|DMPK_ENST00000447742.2_Missense_Mutation_p.G207V|DMPK_ENST00000458663.2_Missense_Mutation_p.G207V|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													11	98					3.86212e-05	3.93988e-05	1	1	0	A	46281440	C	A	46281440	3	1	22	1	0	0	0	0	1	0	0	0	4612	739	26	2	1316	2	DMPK	19	46281440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	730	46281440	12847543	18754	20900											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343373.4_Missense_Mutation_p.V157F|DMPK_ENST00000354227.5_Missense_Mutation_p.V147F|DMPK_ENST00000447742.2_Missense_Mutation_p.V147F|DMPK_ENST00000458663.2_Missense_Mutation_p.V147F|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													24	136					4.16121e-05	4.24482e-05	1	1	0	A	46281893	C	A	46281893	3	1	22	1	0	0	0	0	1	0	0	0	4612	507	18	2	1501	2	DMPK	19	46281893	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	453	46281893	12847090	18755	20901											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	204					0	0	1	0	0	A	46319807	G	A	46319807	3	1	22	1	0	0	0	0	1	0	0	0	15496	1261	44	2	549	2	SYMPK	19	46319807	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37914	46319807	12809176	18756	20902											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	506					0	0	1	0	0	A	46332306	G	A	46332306	3	1	22	1	0	0	0	0	1	0	0	0	15496	1059	37	1	1973	1	SYMPK	19	46332306	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12499	46332306	12796677	18757	20903											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	99					1.55469e-16	1.70887e-16	1	1	0	T	46341750	G	T	46341750	3	4	22	1	0	0	0	0	1	0	0	0	15496	1000	35	2	2685	2	SYMPK	19	46341750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9444	46341750	12787233	18758	20904											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46345746G>A	ENST00000245934.7	-	9	1093	c.847_splice	c.e9-1	p.A283_splice		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													71	351					0	0	1	0	0	A	46345746	G	A	46345746	5	1	22	1	0	0	0	0	0	0	1	0	15496	1362	47	2	3051	2	SYMPK	19	46345746	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3996	46345746	12783237	18759	20905											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	190					5.04308e-16	5.52873e-16	1	1	0	T	46351106	G	T	46351106	3	4	22	1	0	0	0	0	1	0	0	0	15496	991	35	2	3328	2	SYMPK	19	46351106	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5360	46351106	12777877	18760	20906											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	109					0	0	1	0	0	A	46376245	G	A	46376245	3	1	22	1	0	0	0	0	1	0	0	0	6024	1116	39	1	988	1	FOXA3	19	46376245	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25139	46376245	12752738	18761	20907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	56					4.26978e-12	4.57227e-12	1	1	0	T	46389025	G	T	46389025	3	4	22	1	0	0	0	0	1	0	0	0	7873	942	33	2	1750	2	IRF2BP1	19	46389025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12780	46389025	12739958	18762	20908											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	29					0	0	1	0	0	A	46404623	G	A	46404623	3	1	22	1	0	0	0	0	1	0	0	0	10147	1232	43	2	798	2	MYPOP	19	46404623	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15598	46404623	12724360	18763	20909											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	262					0	0	1	0	0	A	46443145	G	A	46443145	2	1	22	1	0	0	0	0	0	0	0	1	10602	987	35	2		2	NOVA2	19	46443145	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38522	46443145	12685838	18764	20910											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													211	816					9.14329e-105	1.17647e-104	1	1	0	T	46627247	G	T	46627247	4	4	22	1	0	0	0	0	0	1	0	0	7632	963	34	2	139	2	IGFL3	19	46627247	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	184102	46627247	12501736	18765	20911											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525854.1_3'UTR|HIF3A_ENST00000600383.1_Silent_p.D74D|HIF3A_ENST00000377670.4_Silent_p.D143D|HIF3A_ENST00000300862.3_Silent_p.D141D|HIF3A_ENST00000472815.1_Silent_p.D74D|HIF3A_ENST00000244303.6_Silent_p.D74D|HIF3A_ENST00000420102.2_Silent_p.D92D			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													100	475					0	0	1	0	0	T	46811543	C	T	46811543	2	4	22	1	0	0	0	0	0	0	0	1	7146	535	19	1		1	HIF3A	19	46811543	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	184296	46811543	12317440	18766	20912											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	382					0	0	1	0	0	T	46915898	C	T	46915898	3	4	22	1	0	0	0	0	1	0	0	0	2873	768	27	1	1450	1	CCDC8	19	46915898	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104355	46915898	12213085	18767	20913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	356					5.00936e-31	5.8875e-31	1	1	0	T	46971816	G	T	46971816	3	4	22	1	0	0	0	0	1	0	0	0	12205	933	33	2	23	2	PNMAL1	19	46971816	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55918	46971816	12157167	18768	20914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	202					2.08457e-15	2.27777e-15	1	1	0	A	46974141	C	A	46974141	3	1	22	1	0	0	0	0	1	0	0	0	12205	739	26	2	1197	2	PNMAL1	19	46974141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2325	46974141	12154842	18769	20915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Missense_Mutation_p.V53M|PNMAL2_ENST00000377655.2_Missense_Mutation_p.T226M	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													7	141					0	0	1	0	0	A	46998046	G	A	46998046	3	1	22	1	0	0	0	0	1	0	0	0	12206	1145	40	1	1234	1	PNMAL2	19	46998046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23905	46998046	12130937	18770	20916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Missense_Mutation_p.A160T|PNMAL2_ENST00000377655.2_Missense_Mutation_p.A119V	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													157	590					0	0	1	0	0	A	46998367	G	A	46998367	3	1	22	1	0	0	0	0	1	0	0	0	12206	1087	38	1	1555	1	PNMAL2	19	46998367	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	321	46998367	12130616	18771	20917											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000291281.4_Missense_Mutation_p.K794T|PRKD2_ENST00000595515.1_Missense_Mutation_p.K804T|PRKD2_ENST00000600194.1_Missense_Mutation_p.K637T|PRKD2_ENST00000601806.1_Missense_Mutation_p.K637T	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	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													8	69					0	0	1	0	0	G	47178333	T	G	47178333	3	3	22	1	0	0	0	0	1	0	0	0	12571	1841	64	3	263	3	PRKD2	19	47178333	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	179966	47178333	11950650	18772	20918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000291281.4_Silent_p.V565V|PRKD2_ENST00000595515.1_Silent_p.V565V|PRKD2_ENST00000600194.1_Silent_p.V408V|PRKD2_ENST00000601806.1_Silent_p.V408V	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	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													72	387					4.20717e-43	5.13249e-43	1	1	0	T	47194999	G	T	47194999	2	4	22	1	0	0	0	0	0	0	0	1	12571	929	33	2		2	PRKD2	19	47194999	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16666	47194999	11933984	18773	20919											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000291281.4_Missense_Mutation_p.A503T|PRKD2_ENST00000595515.1_Missense_Mutation_p.A503T|PRKD2_ENST00000600194.1_Missense_Mutation_p.A346T|PRKD2_ENST00000601806.1_Missense_Mutation_p.A346T	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	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													81	308					0	0	1	0	0	T	47197201	C	T	47197201	3	4	22	1	0	0	0	0	1	0	0	0	12571	797	28	2	1165	2	PRKD2	19	47197201	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2202	47197201	11931782	18774	20920											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000291281.4_Missense_Mutation_p.R192H|PRKD2_ENST00000595515.1_Missense_Mutation_p.R192H|PRKD2_ENST00000600194.1_Missense_Mutation_p.R35H|PRKD2_ENST00000601806.1_Missense_Mutation_p.R35H	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	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)	44	260					0	0	1	0	0	T	47207843	C	T	47207843	3	4	22	1	0	0	0	0	1	0	0	0	12571	768	27	1	2121	1	PRKD2	19	47207843	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10642	47207843	11921140	18775	20921											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539396.1_Missense_Mutation_p.R602C|STRN4_ENST00000263280.6_Missense_Mutation_p.R721C			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													42	210					0	0	1	0	0	A	47223960	G	A	47223960	3	1	22	1	0	0	0	0	1	0	0	0	15387	1116	39	1	104	1	STRN4	19	47223960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16117	47223960	11905023	18776	20922											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539396.1_Missense_Mutation_p.R323H|STRN4_ENST00000263280.6_Missense_Mutation_p.R442H			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													49	190					0	0	1	0	0	T	47228829	C	T	47228829	3	4	22	1	0	0	0	0	1	0	0	0	15387	536	19	1	968	1	STRN4	19	47228829	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4869	47228829	11900154	18777	20923	140	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539396.1_Silent_p.D320D|STRN4_ENST00000263280.6_Silent_p.D439D			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													26	219					0	0	1	0	0	A	47228837	G	A	47228837	2	1	22	1	0	0	0	0	0	0	0	1	15387	1136	40	1		1	STRN4	19	47228837	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	47228837	11900146	18778	20924	140	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539396.1_Nonsense_Mutation_p.W309*|STRN4_ENST00000263280.6_Nonsense_Mutation_p.W428*			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													30	211					0	0	1	0	0	T	47228870	C	T	47228870	4	4	22	1	0	0	0	0	0	1	0	0	15387	856	30	2	1009	2	STRN4	19	47228870	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	47228870	11900113	18779	20925											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Missense_Mutation_p.M184I|STRN4_ENST00000263280.6_Missense_Mutation_p.M303I			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													88	429					0	0	1	0	0	T	47232005	C	T	47232005	3	4	22	1	0	0	0	0	1	0	0	0	15387	594	21	2	1417	2	STRN4	19	47232005	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3135	47232005	11896978	18780	20926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Missense_Mutation_p.V181M|STRN4_ENST00000263280.6_Missense_Mutation_p.V300M			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)	11	500					0	0	1	0	0	T	47232016	C	T	47232016	3	4	22	1	0	0	0	0	1	0	0	0	15387	507	18	2	1428	2	STRN4	19	47232016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11	47232016	11896967	18781	20927											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	41					0	0	1	0	0	T	47259280	C	T	47259280	2	4	22	1	0	0	0	0	0	0	0	1	5950	776	27	1		1	FKRP	19	47259280	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27264	47259280	11869703	18782	20928											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	366					0	0	1	0	0	T	47423229	C	T	47423229	4	4	22	1	0	0	0	0	0	1	0	0	6836	760	27	1	1299	1	ARHGAP35	19	47423229	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163949	47423229	11705754	18783	20929											
ARHGAP35	2909	broad.mit.edu	37	chr19	47424817	47424817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgctgccgaggcctgtaGcaccaccgaagaggtgttta	12	10	0	1	rs140857154	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47424817G>A	ENST00000404338.3	+	1	2885	c.2885G>A	c.(2884-2886)aGc>aAc	p.S962N		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	962					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										GAGGCCTGTAGCACCACCGAA	0.463													71	273					0	0	1	0	0	A	47424817	G	A	47424817	3	1	22	1	0	0	0	0	1	0	0	0	6836	971	34	2	2887	2	ARHGAP35	19	47424817	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1588	47424817	11704166	18784	20930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	250					0	0	1	0	0	A	47424913	G	A	47424913	3	1	22	1	0	0	0	0	1	0	0	0	6836	971	34	2	2983	2	ARHGAP35	19	47424913	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96	47424913	11704070	18785	20931											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	92	359					0	0	1	0	0	A	47535606	G	A	47535606	2	1	22	1	0	0	0	0	0	0	0	1	10609	1310	46	2		2	NPAS1	19	47535606	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110693	47535606	11593377	18786	20932											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	245					0	0	1	0	0	A	47542776	G	A	47542776	3	1	22	1	0	0	0	0	1	0	0	0	10609	1145	40	1	942	1	NPAS1	19	47542776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7170	47542776	11586207	18787	20933											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	507					0	0	1	0	0	T	47570756	C	T	47570756	2	4	22	1	0	0	0	0	0	0	0	1	17629	639	23	1		1	ZC3H4	19	47570756	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27980	47570756	11558227	18788	20934											
ZC3H4	23211	broad.mit.edu	37	chr19	47572401	47572403	+	In_Frame_Del	DEL	CTC	CTC	-													tcagccagcctcctcgctctCtcctcctcctcctgctgctt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47572401_47572403delCTC	ENST00000253048.5	-	14	2381_2383	c.2344_2346delGAG	c.(2344-2346)del	p.E782del	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	782							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)		TCCTCGCTCTCTCCTCCTCCTCC	0.7													7	811	---	---	---	---						-	47572403	CTC	-	47572401	7	5	22	1	0	1	0	1	0	0	0	0	17629	912	32	0	1573	0	ZC3H4	19	47572401	In_Frame_Del	DEL	CTC	TCGA-IB-7651-01A-11D-2154-08	1645	47572401	11556582	18789	20935											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	326					0	0	1	0	0	A	47584827	G	A	47584827	2	1	22	1	0	0	0	0	0	0	0	1	17629	1136	40	1		1	ZC3H4	19	47584827	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12426	47584827	11544156	18790	20936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													171	799					0	0	1	0	0	T	47588377	C	T	47588377	3	4	22	1	0	0	0	0	1	0	0	0	17629	797	28	2	2900	2	ZC3H4	19	47588377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3550	47588377	11540606	18791	20937											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	80					0	0	1	0	0	A	47763668	G	A	47763668	3	1	22	1	0	0	0	0	1	0	0	0	2887	1203	42	2	209	2	CCDC9	19	47763668	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	175291	47763668	11365315	18792	20938											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	732					0	0	1	0	0	T	47856540	C	T	47856540	4	4	22	1	0	0	0	0	0	1	0	0	4535	479	17	2	255	2	DHX34	19	47856540	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92872	47856540	11272443	18793	20939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	178					0	0	1	0	0	T	47865893	C	T	47865893	2	4	22	1	0	0	0	0	0	0	0	1	4535	883	31	1		1	DHX34	19	47865893	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9353	47865893	11263090	18794	20940											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	159					0	0	1	0	0	A	47870358	G	A	47870358	3	1	22	1	0	0	0	0	1	0	0	0	4535	1203	42	2	1736	2	DHX34	19	47870358	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4465	47870358	11258625	18795	20941											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	167					0	0	1	0	0	A	47969093	G	A	47969093	3	1	22	1	0	0	0	0	1	0	0	0	14762	1116	39	1	2233	1	SLC8A2	19	47969093	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98735	47969093	11159890	18796	20942											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	156					0	0	1	0	0	T	47979831	C	T	47979831	2	4	22	1	0	0	0	0	0	0	0	1	8480	680	24	2		2	KPTN	19	47979831	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10738	47979831	11149152	18797	20943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000594367.1_RNA|NAPA-AS1_ENST00000593284.1_RNA|NAPA_ENST00000595227.1_Silent_p.I91I	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													233	1053					1.0846e-72	1.3799e-72	1	1	0	T	47996703	G	T	47996703	2	4	22	1	0	0	0	0	0	0	0	1	10209	932	33	2		2	NAPA	19	47996703	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16872	47996703	11132280	18798	20944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	91					0	0	1	0	0	G	48183836	A	G	48183836	3	3	22	1	0	0	0	0	1	0	0	0	6516	43	2	3	1423	3	GLTSCR1	19	48183836	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	187133	48183836	10945147	18799	20945											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	161					0	0	1	0	0	T	48197882	C	T	48197882	3	4	22	1	0	0	0	0	1	0	0	0	6516	739	26	2	2816	2	GLTSCR1	19	48197882	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14046	48197882	10931101	18800	20946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Missense_Mutation_p.L345F	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													16	279					0	0	1	0	0	T	48244498	C	T	48244498	3	4	22	1	0	0	0	0	1	0	0	0	5004	797	28	2	1459	2	EHD2	19	48244498	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46616	48244498	10884485	18801	20947											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	44					0	0	1	0	0	T	48254262	C	T	48254262	3	4	22	1	0	0	0	0	1	0	0	0	6517	768	27	1	510	1	GLTSCR2	19	48254262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9764	48254262	10874721	18802	20948											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	295					0	0	1	0	0	A	48255775	G	A	48255775	3	1	22	1	0	0	0	0	1	0	0	0	6517	971	34	2	698	2	GLTSCR2	19	48255775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1513	48255775	10873208	18803	20949											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	287					0	0	1	0	0	A	48255822	G	A	48255822	2	1	22	1	0	0	0	0	0	0	0	1	6517	1074	38	1		1	GLTSCR2	19	48255822	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47	48255822	10873161	18804	20950											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	34					0	0	1	0	0	T	48258122	C	T	48258122	3	4	22	1	0	0	0	0	1	0	0	0	6517	759	27	1	1057	1	GLTSCR2	19	48258122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2300	48258122	10870861	18805	20951											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													195	750					2.55618e-100	3.28786e-100	1	1	0	T	48342621	G	T	48342621	3	4	22	1	0	0	0	0	1	0	0	0	3925	962	34	2	307	2	CRX	19	48342621	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84499	48342621	10786362	18806	20952											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													160	579					0	0	1	0	0	A	48342916	G	A	48342916	3	1	22	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	18807	20953											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													154	784					0	0	1	0	0	A	48343134	G	A	48343134	2	1	22	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	18808	20954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													148	669					0	0	1	0	0	C	48382317	T	C	48382317	2	2	22	1	0	0	0	0	0	0	0	1	15437	1635	57	3		3	SULT2A1	19	48382317	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39183	48382317	10746666	18809	20955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	246					8.12818e-05	8.2724e-05	1	1	0	T	48386976	G	T	48386976	3	4	22	1	0	0	0	0	1	0	0	0	15437	942	33	2	674	2	SULT2A1	19	48386976	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4659	48386976	10742007	18810	20956											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	160					0	0	1	0	0	A	48519159	G	A	48519159	3	1	22	1	0	0	0	0	1	0	0	0	5111	1087	38	1	228	1	ELSPBP1	19	48519159	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132183	48519159	10609824	18811	20957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	296					0.00074312	0.000751657	1	1	0	A	48523002	C	A	48523002	3	1	22	1	0	0	0	0	1	0	0	0	5111	739	26	2	396	2	ELSPBP1	19	48523002	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3843	48523002	10605981	18812	20958											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000599111.1_Missense_Mutation_p.G225R|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G215R|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													203	841					0	0	1	0	0	T	48598787	C	T	48598787	3	4	22	1	0	0	0	0	1	0	0	0	12051	661	23	1	1030	1	PLA2G4C	19	48598787	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75785	48598787	10530196	18813	20959											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357778.5_Missense_Mutation_p.R78H|CARD8_ENST00000521613.1_Missense_Mutation_p.R303H|CARD8_ENST00000520753.1_Missense_Mutation_p.R353H|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000359009.4_Missense_Mutation_p.R247H|CARD8_ENST00000447740.2_Missense_Mutation_p.R303H|CARD8_ENST00000519940.1_Missense_Mutation_p.R353H|CARD8_ENST00000520015.1_Missense_Mutation_p.R353H|CARD8_ENST00000520153.1_Missense_Mutation_p.R303H	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													12	247					0	0	1	0	0	T	48725090	C	T	48725090	3	4	22	1	0	0	0	0	1	0	0	0	2669	768	27	1	571	1	CARD8	19	48725090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126303	48725090	10403893	18814	20960											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000315849.1_Missense_Mutation_p.T21I|ZNF114_ENST00000600687.1_Missense_Mutation_p.T21I|ZNF114_ENST00000597695.1_5'UTR			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													133	653					0	0	1	0	0	T	48785680	C	T	48785680	3	4	22	1	0	0	0	0	1	0	0	0	17774	507	18	2	68	2	ZNF114	19	48785680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60590	48785680	10343303	18815	20961											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	410					0	0	1	0	0	T	48800327	C	T	48800327	3	4	22	1	0	0	0	0	1	0	0	0	2769	855	30	2	97	2	CCDC114	19	48800327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14647	48800327	10328656	18816	20962											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	274					0	0	1	0	0	A	48800516	G	A	48800516	3	1	22	1	0	0	0	0	1	0	0	0	2769	1145	40	1	286	1	CCDC114	19	48800516	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	189	48800516	10328467	18817	20963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	327					0	0	1	0	0	T	48806314	C	T	48806314	3	4	22	1	0	0	0	0	1	0	0	0	2769	893	31	1	1120	1	CCDC114	19	48806314	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5798	48806314	10322669	18818	20964											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	472					0	0	1	0	0	T	48806982	C	T	48806982	3	4	22	1	0	0	0	0	1	0	0	0	2769	893	31	1	1238	1	CCDC114	19	48806982	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	668	48806982	10322001	18819	20965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000601610.1_5'UTR|SYNGR4_ENST00000595322.1_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													89	378					0	0	1	0	0	A	48876806	G	A	48876806	2	1	22	1	0	0	0	0	0	0	0	1	15508	1277	45	2		2	SYNGR4	19	48876806	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69824	48876806	10252177	18820	20966											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000601610.1_3'UTR|SYNGR4_ENST00000595322.1_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													8	456					0	0	1	0	0	G	48879469	A	G	48879469	3	3	22	1	0	0	0	0	1	0	0	0	15508	43	2	3	613	3	SYNGR4	19	48879469	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2663	48879469	10249514	18821	20967											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	84					0	0	1	0	0	A	48908453	G	A	48908453	3	1	22	1	0	0	0	0	1	0	0	0	6823	1203	42	2	934	2	GRIN2D	19	48908453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28984	48908453	10220530	18822	20968											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	77					0	0	1	0	0	T	48908591	C	T	48908591	3	4	22	1	0	0	0	0	1	0	0	0	6823	652	23	1	1072	1	GRIN2D	19	48908591	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138	48908591	10220392	18823	20969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	737					0	0	1	0	0	A	48922979	G	A	48922979	3	1	22	1	0	0	0	0	1	0	0	0	6823	1145	40	1	2029	1	GRIN2D	19	48922979	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14388	48922979	10206004	18824	20970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	187					0	0	1	0	0	C	48945066	T	C	48945066	3	2	22	1	0	0	0	0	1	0	0	0	6823	1754	61	3	2331	3	GRIN2D	19	48945066	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22087	48945066	10183917	18825	20971											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													197	814					0	0	1	0	0	T	48945465	C	T	48945465	2	4	22	1	0	0	0	0	0	0	0	1	6823	874	31	1		1	GRIN2D	19	48945465	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	399	48945465	10183518	18826	20972											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	405					0	0	1	0	0	T	48953707	C	T	48953707	2	4	22	1	0	0	0	0	0	0	0	1	6852	610	22	2		2	GRWD1	19	48953707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8242	48953707	10175276	18827	20973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	258					1.80625e-27	2.09175e-27	1	1	0	A	48953963	C	A	48953963	2	1	22	1	0	0	0	0	0	0	0	1	6852	900	32	2		2	GRWD1	19	48953963	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	256	48953963	10175020	18828	20974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	536					0	0	1	0	0	A	48956001	G	A	48956001	3	1	22	1	0	0	0	0	1	0	0	0	6852	1203	42	2	1086	2	GRWD1	19	48956001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2038	48956001	10172982	18829	20975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	528					0	0	1	0	0	T	48956239	C	T	48956239	3	4	22	1	0	0	0	0	1	0	0	0	6852	536	19	1	1324	1	GRWD1	19	48956239	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	238	48956239	10172744	18830	20976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	54					0	0	1	0	0	A	48965133	G	A	48965133	3	1	22	1	0	0	0	0	1	0	0	0	8092	1087	38	1	154	1	KCNJ14	19	48965133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8894	48965133	10163850	18831	20977	141	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	63					0	0	1	0	0	T	48965137	C	T	48965137	2	4	22	1	0	0	0	0	0	0	0	1	8092	883	31	1		1	KCNJ14	19	48965137	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4	48965137	10163846	18832	20978	141	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	117					0	0	1	0	0	T	48965230	C	T	48965230	2	4	22	1	0	0	0	0	0	0	0	1	8092	535	19	1		1	KCNJ14	19	48965230	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93	48965230	10163753	18833	20979											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	50					0.00829132	0.00834067	1	1	0	A	48965405	C	A	48965405	3	1	22	1	0	0	0	0	1	0	0	0	8092	796	28	2	426	2	KCNJ14	19	48965405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175	48965405	10163578	18834	20980											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	491					0	0	1	0	0	T	48977504	C	T	48977504	3	4	22	1	0	0	0	0	1	0	0	0	4227	643	23	1	639	1	CYTH2	19	48977504	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12099	48977504	10151479	18835	20981											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	40					5.4927e-09	5.7613e-09	1	1	0	T	49001742	G	T	49001742	3	4	22	1	0	0	0	0	1	0	0	0	8901	962	34	2	1818	2	LMTK3	19	49001742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24238	49001742	10127241	18836	20982											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	520					0	0	1	0	0	A	49110298	G	A	49110298	2	1	22	1	0	0	0	0	0	0	0	1	15028	991	35	2		2	SPACA4	19	49110298	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108556	49110298	10018685	18837	20983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49119337G>A	ENST00000549273.1	-	5	453	c.421_splice	c.e5+1	p.S140_splice	RPL18_ENST00000550645.1_Intron|RPL18_ENST00000552588.1_Splice_Site_p.S111_splice|RPL18_ENST00000549920.1_Splice_Site_p.S140_splice			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													15	377					0	0	1	0	0	A	49119337	G	A	49119337	5	1	22	1	0	0	0	0	0	0	1	0	13616	1130	39	1	158	1	RPL18	19	49119337	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9039	49119337	10009646	18838	20984											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550645.1_Missense_Mutation_p.G74D|RPL18_ENST00000552588.1_Missense_Mutation_p.G45D|RPL18_ENST00000549920.1_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													12	405					0	0	1	0	0	T	49120059	C	T	49120059	3	4	22	1	0	0	0	0	1	0	0	0	13616	739	26	2	361	2	RPL18	19	49120059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	722	49120059	10008924	18839	20985											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	74					0	0	1	0	0	T	49134162	C	T	49134162	3	4	22	1	0	0	0	0	1	0	0	0	4280	536	19	1	71	1	DBP	19	49134162	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14103	49134162	9994821	18840	20986											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	111					0	0	1	0	0	T	49134254	C	T	49134254	3	4	22	1	0	0	0	0	1	0	0	0	4280	536	19	1	163	1	DBP	19	49134254	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92	49134254	9994729	18841	20987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	133					0	0	1	0	0	A	49167894	G	A	49167894	2	1	22	1	0	0	0	0	0	0	0	1	10751	1195	42	2		2	NTN5	19	49167894	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33640	49167894	9961089	18842	20988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	201					0	0	1	0	0	A	49206490	G	A	49206490	3	1	22	1	0	0	0	0	1	0	0	0	6139	1087	38	1	279	1	FUT2	19	49206490	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38596	49206490	9922493	18843	20989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	802					0	0	1	0	0	A	49207006	G	A	49207006	3	1	22	1	0	0	0	0	1	0	0	0	6139	1058	37	1	795	1	FUT2	19	49207006	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	516	49207006	9921977	18844	20990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000599246.1_Missense_Mutation_p.E61K|BCAT2_ENST00000597011.1_Missense_Mutation_p.E113K|BCAT2_ENST00000545387.2_Missense_Mutation_p.E61K|BCAT2_ENST00000316273.6_Missense_Mutation_p.E153K|BCAT2_ENST00000598162.1_Missense_Mutation_p.E153K			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													66	209					0	0	1	0	0	T	49303312	C	T	49303312	3	4	22	1	0	0	0	0	1	0	0	0	1353	893	31	1	749	1	BCAT2	19	49303312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96306	49303312	9825671	18845	20991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	468					1.84609e-46	2.26828e-46	1	1	0	A	49357476	C	A	49357476	3	1	22	1	0	0	0	0	1	0	0	0	12106	913	32	2	1290	2	PLEKHA4	19	49357476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54164	49357476	9771507	18846	20992											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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													40	172					0	0	1	0	0	A	49362745	G	A	49362745	3	1	22	1	0	0	0	0	1	0	0	0	12106	1086	38	1	1722	1	PLEKHA4	19	49362745	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5269	49362745	9766238	18847	20993											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	459					0.000442599	0.000448314	1	1	0	A	49377870	C	A	49377870	2	1	22	1	0	0	0	0	0	0	0	1	12412	668	24	2		2	PPP1R15A	19	49377870	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15125	49377870	9751113	18848	20994											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	321					0	0	1	0	0	T	49378030	C	T	49378030	3	4	22	1	0	0	0	0	1	0	0	0	12412	507	18	2	1542	2	PPP1R15A	19	49378030	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160	49378030	9750953	18849	20995											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													156	1746					0	0	1	0	0	A	49379046	G	A	49379046	3	1	22	1	0	0	0	0	1	0	0	0	12412	942	33	2	1847	2	PPP1R15A	19	49379046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1016	49379046	9749937	18850	20996											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	230					0	0	1	0	0	A	49473039	G	A	49473039	3	1	22	1	0	0	0	0	1	0	0	0	6953	1087	38	1	338	1	GYS1	19	49473039	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93993	49473039	9655944	18851	20997											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000601968.1_Missense_Mutation_p.G21V|RUVBL2_ENST00000595090.1_Missense_Mutation_p.G66V			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													90	423					5.92634e-42	7.20812e-42	1	1	0	T	49507607	G	T	49507607	3	4	22	1	0	0	0	0	1	0	0	0	13805	1232	43	2	211	2	RUVBL2	19	49507607	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34568	49507607	9621376	18852	20998											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000601968.1_Missense_Mutation_p.R85H|RUVBL2_ENST00000595090.1_Missense_Mutation_p.R130H			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													19	485					0	0	1	0	0	A	49510398	G	A	49510398	3	1	22	1	0	0	0	0	1	0	0	0	13805	1087	38	1	407	1	RUVBL2	19	49510398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2791	49510398	9618585	18853	20999											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000601968.1_Silent_p.I93I|RUVBL2_ENST00000595090.1_Silent_p.I138I			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													28	279					0	0	1	0	0	T	49510577	C	T	49510577	2	4	22	1	0	0	0	0	0	0	0	1	13805	874	31	1		1	RUVBL2	19	49510577	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179	49510577	9618406	18854	21000											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000601968.1_Missense_Mutation_p.G174C|RUVBL2_ENST00000595090.1_Missense_Mutation_p.G219C			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													46	189					2.68985e-26	3.09749e-26	1	1	0	T	49513315	G	T	49513315	3	4	22	1	0	0	0	0	1	0	0	0	13805	1232	43	2	685	2	RUVBL2	19	49513315	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2738	49513315	9615668	18855	21001											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	494					0	0	1	0	0	A	49539472	G	A	49539472	3	1	22	1	0	0	0	0	1	0	0	0	3319	1261	44	2	377	2	CGB1	19	49539472	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26157	49539472	9589511	18856	21002											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	254					0	0	1	0	0	A	49573470	G	A	49573470	2	1	22	1	0	0	0	0	0	0	0	1	8052	1074	38	1		1	KCNA7	19	49573470	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33998	49573470	9555513	18857	21003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	84					0	0	1	0	0	T	49575299	C	T	49575299	3	4	22	1	0	0	0	0	1	0	0	0	8052	768	27	1	834	1	KCNA7	19	49575299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1829	49575299	9553684	18858	21004											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	53					0	0	1	0	0	T	49611533	C	T	49611533	3	4	22	1	0	0	0	0	1	0	0	0	14912	759	27	1	1181	1	SNRNP70	19	49611533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36234	49611533	9517450	18859	21005											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	581					0	0	1	0	0	A	49621899	G	A	49621899	2	1	22	1	0	0	0	0	0	0	0	1	1961	987	35	2		2	C19orf73	19	49621899	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10366	49621899	9507084	18860	21006											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	406					0	0	1	0	0	A	49632175	G	A	49632175	3	1	22	1	0	0	0	0	1	0	0	0	12356	1087	38	1	423	1	PPFIA3	19	49632175	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10276	49632175	9496808	18861	21007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	264					0	0	1	0	0	A	49655301	G	A	49655301	2	1	22	1	0	0	0	0	0	0	0	1	7393	963	34	2		2	HRC	19	49655301	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23126	49655301	9473682	18862	21008											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	217					0	0	1	0	0	A	49656971	G	A	49656971	2	1	22	1	0	0	0	0	0	0	0	1	7393	1306	46	2		2	HRC	19	49656971	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1670	49656971	9472012	18863	21009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	453					0	0	1	0	0	T	49657295	C	T	49657295	2	4	22	1	0	0	0	0	0	0	0	1	7393	912	32	2		2	HRC	19	49657295	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	324	49657295	9471688	18864	21010											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	507					0	0	1	0	0	A	49658323	G	A	49658323	3	1	22	1	0	0	0	0	1	0	0	0	7393	1058	37	1	1951	1	HRC	19	49658323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1028	49658323	9470660	18865	21011											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000601347.1_3'UTR|TRPM4_ENST00000355712.5_Missense_Mutation_p.A66S|TRPM4_ENST00000427978.2_Missense_Mutation_p.A349S	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													34	137					8.4185e-14	9.11178e-14	1	1	0	T	49675021	G	T	49675021	3	4	22	1	0	0	0	0	1	0	0	0	16649	1203	42	2	1075	2	TRPM4	19	49675021	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16698	49675021	9453962	18866	21012											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355712.5_Missense_Mutation_p.R610C|TRPM4_ENST00000427978.2_Missense_Mutation_p.R819C	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													48	280					0	0	1	0	0	T	49703979	C	T	49703979	3	4	22	1	0	0	0	0	1	0	0	0	16649	768	27	1	2964	1	TRPM4	19	49703979	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28958	49703979	9425004	18867	21013											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355712.5_Missense_Mutation_p.E753K|TRPM4_ENST00000427978.2_Missense_Mutation_p.E962K	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													60	254					0	0	1	0	0	A	49713653	G	A	49713653	3	1	22	1	0	0	0	0	1	0	0	0	16649	1059	37	1	3401	1	TRPM4	19	49713653	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9674	49713653	9415330	18868	21014											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	502					3.30846e-59	4.15322e-59	1	1	0	T	49812269	G	T	49812269	3	4	22	1	0	0	0	0	1	0	0	0	14734	1203	42	2	1141	2	SLC6A16	19	49812269	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98616	49812269	9316714	18869	21015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49850619T>C	ENST00000377214.4	-	8	1108	c.744_splice	c.e8-1	p.Y249_splice	TEAD2_ENST00000598810.1_Splice_Site_p.Y250_splice|TEAD2_ENST00000598397.1_5'UTR|TEAD2_ENST00000539846.1_Splice_Site_p.Y118_splice|TEAD2_ENST00000601519.1_Splice_Site_p.Y249_splice|TEAD2_ENST00000311227.2_Splice_Site_p.Y246_splice|TEAD2_ENST00000593945.1_Splice_Site_p.Y250_splice			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													111	502					0	0	1	0	0	C	49850619	T	C	49850619	5	2	22	1	0	0	0	0	0	0	1	0	15798	1652	57	3	622	3	TEAD2	19	49850619	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38350	49850619	9278364	18870	21016											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	189					0	0	1	0	0	T	49878129	C	T	49878129	2	4	22	1	0	0	0	0	0	0	0	1	4576	767	27	1		1	DKKL1	19	49878129	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27510	49878129	9250854	18871	21017											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	92					0.00400662	0.00403789	1	1	0	A	49938140	C	A	49938140	5	1	22	1	0	0	0	0	0	0	1	0	14477	927	32	2	1284	2	SLC17A7	19	49938140	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60011	49938140	9190843	18872	21018											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	186					0	0	1	0	0	A	49952887	G	A	49952887	3	1	22	1	0	0	0	0	1	0	0	0	11954	1059	37	1	718	1	PIH1D1	19	49952887	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14747	49952887	9176096	18873	21019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	404					0	0	1	0	0	A	49954801	G	A	49954801	2	1	22	1	0	0	0	0	0	0	0	1	11954	962	34	2		2	PIH1D1	19	49954801	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1914	49954801	9174182	18874	21020											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	249					0	0	1	0	0	G	49965961	A	G	49965961	2	3	22	1	0	0	0	0	0	0	0	1	485	204	8	3		3	ALDH16A1	19	49965961	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11160	49965961	9163022	18875	21021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.R370C|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.R484C|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.R372C	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													92	329					0	0	1	0	0	T	49969029	C	T	49969029	3	4	22	1	0	0	0	0	1	0	0	0	485	652	23	1	1653	1	ALDH16A1	19	49969029	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3068	49969029	9159954	18876	21022											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.L537M|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.L651M|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.L539M	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													168	739					4.53004e-87	5.80951e-87	1	1	0	A	49971803	C	A	49971803	3	1	22	1	0	0	0	0	1	0	0	0	485	796	28	2	2162	2	ALDH16A1	19	49971803	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2774	49971803	9157180	18877	21023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000596873.1_Missense_Mutation_p.R105C|RPS11_ENST00000599561.1_Missense_Mutation_p.A70V|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													89	280					0	0	1	0	0	T	50001263	C	T	50001263	3	4	22	1	0	0	0	0	1	0	0	0	13673	768	27	1	327	1	RPS11	19	50001263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29460	50001263	9127720	18878	21024											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000426395.3_Missense_Mutation_p.N252S|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000596975.1_Missense_Mutation_p.N160S|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													14	349					0	0	1	0	0	G	50027917	A	G	50027917	3	3	22	1	0	0	0	0	1	0	0	0	5819	43	2	3	769	3	FCGRT	19	50027917	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26654	50027917	9101066	18879	21025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	60					0	0	1	0	0	A	50045888	G	A	50045888	3	1	22	1	0	0	0	0	1	0	0	0	13233	1116	39	1	776	1	RCN3	19	50045888	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17971	50045888	9083095	18880	21026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000339093.3_Silent_p.P172P|NOSIP_ENST00000596358.1_Silent_p.P169P	NM_015953.3	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													22	104					0	0	1	0	0	A	50060162	G	A	50060162	2	1	22	1	0	0	0	0	0	0	0	1	10592	1103	39	1		1	NOSIP	19	50060162	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14274	50060162	9068821	18881	21027											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000339093.3_Missense_Mutation_p.Q108H|NOSIP_ENST00000596358.1_Missense_Mutation_p.Q108H	NM_015953.3	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													21	67					2.21704e-12	2.37967e-12	1	1	0	A	50060441	C	A	50060441	3	1	22	1	0	0	0	0	1	0	0	0	10592	680	24	2	601	2	NOSIP	19	50060441	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279	50060441	9068542	18882	21028											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	91					0	0	1	0	0	A	50098064	G	A	50098064	3	1	22	1	0	0	0	0	1	0	0	0	12636	1116	39	1	486	1	PRR12	19	50098064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37623	50098064	9030919	18883	21029											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	73					0	0	1	0	0	C	50098142	T	C	50098142	3	2	22	1	0	0	0	0	1	0	0	0	12636	1667	58	3	564	3	PRR12	19	50098142	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	78	50098142	9030841	18884	21030											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	163					2.49534e-26	2.87403e-26	1	1	0	T	50099477	G	T	50099477	3	4	22	1	0	0	0	0	1	0	0	0	12636	1000	35	2	1899	2	PRR12	19	50099477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1335	50099477	9029506	18885	21031											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	65					0	0	1	0	0	A	50161056	G	A	50161056	2	1	22	1	0	0	0	0	0	0	0	1	13921	991	35	2		2	SCAF1	19	50161056	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61579	50161056	8967927	18886	21032											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000309877.7_Missense_Mutation_p.R86H|IRF3_ENST00000601291.1_Missense_Mutation_p.R86H|IRF3_ENST00000442265.2_Intron|IRF3_ENST00000600911.1_Missense_Mutation_p.R86H|IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000600022.1_5'UTR|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000599223.1_Missense_Mutation_p.R86H|IRF3_ENST00000377139.3_Missense_Mutation_p.R86H|IRF3_ENST00000377135.4_Missense_Mutation_p.R86H			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													52	217					0	0	1	0	0	T	50166680	C	T	50166680	3	4	22	1	0	0	0	0	1	0	0	0	7875	768	27	1	1050	1	IRF3	19	50166680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5624	50166680	8962303	18887	21033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405931.2_Missense_Mutation_p.R102Q|CPT1C_ENST00000323446.5_Missense_Mutation_p.R102Q|CPT1C_ENST00000598293.1_Missense_Mutation_p.R102Q|CPT1C_ENST00000354199.5_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													76	697					0	0	1	0	0	A	50203964	G	A	50203964	3	1	22	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	18888	21034											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50216321G>A	ENST00000392518.4	+	19	2598	c.2226_splice	c.e19+1	p.T742_splice	CPT1C_ENST00000405931.2_Splice_Site_p.T731_splice|CPT1C_ENST00000323446.5_Splice_Site_p.T742_splice|CPT1C_ENST00000598293.1_Splice_Site_p.T742_splice|CPT1C_ENST00000354199.5_Splice_Site_p.T653_splice	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													169	677					0	0	1	0	0	A	50216321	G	A	50216321	5	1	22	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	18889	21035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	411					0	0	1	0	0	G	50243181	A	G	50243181	3	3	22	1	0	0	0	0	1	0	0	0	16687	217	8	3	151	3	TSKS	19	50243181	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26860	50243181	8885802	18890	21036											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	282					0	0	1	0	0	A	50249836	G	A	50249836	3	1	22	1	0	0	0	0	1	0	0	0	16687	1203	42	2	919	2	TSKS	19	50249836	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6655	50249836	8879147	18891	21037											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528094.1_Missense_Mutation_p.L103M|FUZ_ENST00000445575.2_Missense_Mutation_p.L139M|FUZ_ENST00000533418.1_Missense_Mutation_p.L89M|FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000526575.1_3'UTR	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													9	232					0.000274275	0.000278163	1	1	0	T	50314697	G	T	50314697	3	4	22	1	0	0	0	0	1	0	0	0	6147	991	35	2	869	2	FUZ	19	50314697	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64861	50314697	8814286	18892	21038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	179					0	0	1	0	0	A	50321657	T	A	50321657	3	1	22	1	0	0	0	0	1	0	0	0	9493	1841	64	5	61	5	MED25	19	50321657	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6960	50321657	8807326	18893	21039											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000598325.1_3'UTR|PTOV1_ENST00000599732.1_Missense_Mutation_p.P68H|PTOV1_ENST00000601638.1_Missense_Mutation_p.P36H|PTOV1_ENST00000600603.1_Missense_Mutation_p.P36H|PTOV1_ENST00000601675.1_Missense_Mutation_p.P68H|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000221557.9_Missense_Mutation_p.P36H	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													34	1031					2.70662e-09	2.84656e-09	1	1	0	A	50357694	C	A	50357694	3	1	22	1	0	0	0	0	1	0	0	0	12819	623	22	2	209	2	PTOV1	19	50357694	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36037	50357694	8771289	18894	21040											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000598325.1_3'UTR|PTOV1_ENST00000599732.1_Silent_p.C172C|PTOV1_ENST00000601638.1_Silent_p.C140C|PTOV1_ENST00000600603.1_Silent_p.C140C|PTOV1_ENST00000601675.1_Silent_p.C172C|PTOV1_ENST00000221557.9_Silent_p.C140C	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													8	40					0	0	1	0	0	T	50358292	C	T	50358292	2	4	22	1	0	0	0	0	0	0	0	1	12819	776	27	1		1	PTOV1	19	50358292	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	598	50358292	8770691	18895	21041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_078958.2	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													8	260					0	0	1	0	0	A	50386980	G	A	50386980	2	1	22	1	0	0	0	0	0	0	0	1	15663	1306	46	2		2	TBC1D17	19	50386980	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28688	50386980	8742003	18896	21042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_078958.2	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													25	582					0	0	1	0	0	A	50387800	G	A	50387800	3	1	22	1	0	0	0	0	1	0	0	0	15663	1203	42	2	1374	2	TBC1D17	19	50387800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	820	50387800	8741183	18897	21043											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	225					0	0	1	0	0	T	50393095	C	T	50393095	2	4	22	1	0	0	0	0	0	0	0	1	7741	639	23	1		1	IL4I1	19	50393095	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5295	50393095	8735888	18898	21044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352066.3_Silent_p.G113G|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000413454.1_Silent_p.G113G|NUP62_ENST00000597029.1_Silent_p.G113G|NUP62_ENST00000422090.2_Silent_p.G113G|NUP62_ENST00000597723.1_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													108	497					1.97301e-41	2.39674e-41	1	1	0	T	50412726	G	T	50412726	2	4	22	1	0	0	0	0	0	0	0	1	10816	958	34	2		2	NUP62	19	50412726	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19631	50412726	8716257	18899	21045											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF473_ENST00000270617.3_Silent_p.F112F|ZNF473_ENST00000391821.2_Silent_p.F112F|ZNF473_ENST00000445728.3_Silent_p.F100F|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA			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													71	257					0	0	1	0	0	T	50548036	C	T	50548036	2	4	22	1	0	0	0	0	0	0	0	1	17988	883	31	1		1	ZNF473	19	50548036	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135310	50548036	8580947	18900	21046											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF473_ENST00000270617.3_Silent_p.E309E|ZNF473_ENST00000391821.2_Silent_p.E309E|ZNF473_ENST00000445728.3_Silent_p.E297E|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA			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													105	467					0	0	1	0	0	A	50548627	G	A	50548627	2	1	22	1	0	0	0	0	0	0	0	1	17988	962	34	2		2	ZNF473	19	50548627	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	591	50548627	8580356	18901	21047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	ZNF473_ENST00000270617.3_Nonsense_Mutation_p.R694*|ZNF473_ENST00000391821.2_Nonsense_Mutation_p.R694*|ZNF473_ENST00000445728.3_Nonsense_Mutation_p.R682*|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA			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													62	330					0	0	1	0	0	T	50549780	C	T	50549780	4	4	22	1	0	0	0	0	0	1	0	0	17988	760	27	1	2094	1	ZNF473	19	50549780	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1153	50549780	8579203	18902	21048											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF473_ENST00000270617.3_Missense_Mutation_p.G740S|ZNF473_ENST00000391821.2_Missense_Mutation_p.G740S|ZNF473_ENST00000445728.3_Missense_Mutation_p.G728S|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA			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)	71	311					0	0	1	0	0	A	50549918	G	A	50549918	3	1	22	1	0	0	0	0	1	0	0	0	17988	1116	39	1	2232	1	ZNF473	19	50549918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138	50549918	8579065	18903	21049											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376970.2_Missense_Mutation_p.P228Q|MYH14_ENST00000598205.1_Missense_Mutation_p.P228Q|MYH14_ENST00000425460.1_Missense_Mutation_p.P228Q|MYH14_ENST00000262269.8_Missense_Mutation_p.P228Q|MYH14_ENST00000596571.1_Missense_Mutation_p.P228Q|MYH14_ENST00000601313.1_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													12	35					3.07112e-06	3.16074e-06	1	1	0	A	50726596	C	A	50726596	3	1	22	1	0	0	0	0	1	0	0	0	10081	652	23	4	697	4	MYH14	19	50726596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176678	50726596	8402387	18904	21050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376970.2_Missense_Mutation_p.R1614C|MYH14_ENST00000598205.1_Missense_Mutation_p.R1589C|MYH14_ENST00000425460.1_Missense_Mutation_p.R1589C|MYH14_ENST00000262269.8_Missense_Mutation_p.R1622C|MYH14_ENST00000596571.1_Missense_Mutation_p.R1581C|MYH14_ENST00000601313.1_Missense_Mutation_p.R1622C			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													16	100					0	0	1	0	0	T	50792804	C	T	50792804	3	4	22	1	0	0	0	0	1	0	0	0	10081	768	27	1	4998	1	MYH14	19	50792804	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66208	50792804	8336179	18905	21051											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376970.2_Silent_p.D1807D|MYH14_ENST00000598205.1_Silent_p.D1782D|MYH14_ENST00000425460.1_Silent_p.D1782D|MYH14_ENST00000262269.8_Silent_p.D1815D|MYH14_ENST00000596571.1_Silent_p.D1774D|MYH14_ENST00000601313.1_Silent_p.D1815D			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													48	163					0	0	1	0	0	T	50796920	C	T	50796920	2	4	22	1	0	0	0	0	0	0	0	1	10081	506	18	2		2	MYH14	19	50796920	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4116	50796920	8332063	18906	21052											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376970.2_Missense_Mutation_p.R1827H|MYH14_ENST00000598205.1_Missense_Mutation_p.R1802H|MYH14_ENST00000425460.1_Missense_Mutation_p.R1802H|MYH14_ENST00000262269.8_Missense_Mutation_p.R1835H|MYH14_ENST00000596571.1_Missense_Mutation_p.R1794H|MYH14_ENST00000601313.1_Missense_Mutation_p.R1835H			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													45	242					0	0	1	0	0	A	50804952	G	A	50804952	3	1	22	1	0	0	0	0	1	0	0	0	10081	1087	38	1	5658	1	MYH14	19	50804952	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8032	50804952	8324031	18907	21053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	115					0	0	1	0	0	T	50862018	C	T	50862018	3	4	22	1	0	0	0	0	1	0	0	0	10214	768	27	1	211	1	NAPSA	19	50862018	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57066	50862018	8266965	18908	21054											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542413.1_5'UTR|NR1H2_ENST00000598168.1_Silent_p.G210G|NR1H2_ENST00000411902.2_Silent_p.G113G|NR1H2_ENST00000599105.1_Silent_p.G210G|NR1H2_ENST00000593926.1_Silent_p.G210G	NM_007121.5	NP_009052.3	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													40	239					0	0	1	0	0	T	50881936	C	T	50881936	2	4	22	1	0	0	0	0	0	0	0	1	10665	784	28	2		2	NR1H2	19	50881936	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19918	50881936	8247047	18909	21055											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					12	103					0	0	1	0	0	A	50905960	G	A	50905960	3	1	22	1	0	0	0	0	1	0	0	0	12238	1087	38	1	958	1	POLD1	19	50905960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24024	50905960	8223023	18910	21056											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	83					0	0	1	0	0	T	50944251	C	T	50944251	2	4	22	1	0	0	0	0	0	0	0	1	10060	874	31	1		1	MYBPC2	19	50944251	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38291	50944251	8184732	18911	21057											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	418					0	0	1	0	0	G	50958825	A	G	50958825	2	3	22	1	0	0	0	0	0	0	0	1	10060	146	6	3		3	MYBPC2	19	50958825	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14574	50958825	8170158	18912	21058											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000595669.1_Intron|JOSD2_ENST00000391815.3_Silent_p.A75A	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													135	703					0	0	1	0	0	A	51010878	G	A	51010878	2	1	22	1	0	0	0	0	0	0	0	1	8003	1103	39	1		1	JOSD2	19	51010878	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52053	51010878	8118105	18913	21059											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	106					0	0	1	0	0	C	51021414	T	C	51021414	3	2	22	1	0	0	0	0	1	0	0	0	9052	1667	58	3	589	3	LRRC4B	19	51021414	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10536	51021414	8107569	18914	21060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	264					0	0	1	0	0	A	51021716	G	A	51021716	2	1	22	1	0	0	0	0	0	0	0	1	9052	1136	40	1		1	LRRC4B	19	51021716	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302	51021716	8107267	18915	21061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	296					0	0	1	0	0	A	51021728	G	A	51021728	2	1	22	1	0	0	0	0	0	0	0	1	9052	1103	39	1		1	LRRC4B	19	51021728	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12	51021728	8107255	18916	21062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	241					2.73381e-35	3.26223e-35	1	1	0	T	51021887	G	T	51021887	4	4	22	1	0	0	0	0	0	1	0	0	9052	963	34	2	1062	2	LRRC4B	19	51021887	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	159	51021887	8107096	18917	21063											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	380					0	0	1	0	0	T	51022052	C	T	51022052	2	4	22	1	0	0	0	0	0	0	0	1	9052	697	25	2		2	LRRC4B	19	51022052	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	165	51022052	8106931	18918	21064											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	70					0	0	1	0	0	A	51128446	G	A	51128446	2	1	22	1	0	0	0	0	0	0	0	1	15532	1103	39	1		1	SYT3	19	51128446	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106394	51128446	8000537	18919	21065											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	388					0	0	1	0	0	A	51133064	G	A	51133064	3	1	22	1	0	0	0	0	1	0	0	0	15532	1116	39	1	757	1	SYT3	19	51133064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4618	51133064	7995919	18920	21066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.G2034E|SHANK1_ENST00000359082.3_Missense_Mutation_p.G2017E|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													19	69					0	0	1	0	0	T	51165631	C	T	51165631	3	4	22	1	0	0	0	0	1	0	0	0	14319	855	30	2	412	2	SHANK1	19	51165631	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32567	51165631	7963352	18921	21067											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.V1824A|SHANK1_ENST00000359082.3_Missense_Mutation_p.V1807A|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													11	54					0	0	1	0	0	G	51169770	A	G	51169770	3	3	22	1	0	0	0	0	1	0	0	0	14319	159	6	3	1046	3	SHANK1	19	51169770	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4139	51169770	7959213	18922	21068											
SHANK1	50944	broad.mit.edu	37	chr19	51192558	51192559	+	Frame_Shift_Ins	INS	-	-	G													ggcagggaggcaggagaaatINSgggggggtggtggggggagt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51192558_51192559insG	ENST00000391813.1	-	1	102_103	c.103_104insC	c.(103-105)tttfs	p.F35fs	SHANK1_ENST00000293441.1_Intron|SHANK1_ENST00000359082.3_Intron|SHANK1_ENST00000391814.1_Intron			Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1218					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)		GCAGGAGAAATGGGGGGGTGGT	0.589													45	264	---	---	---	---						G	51192559	-	G	51192558	7	5	22	1	0	1	1	0	0	0	0	0	14319	1479	51	0		0	SHANK1	19	51192558	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	22788	51192558	7936425	18923	21069											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	60					0	0	1	0	0	A	51220126	G	A	51220126	2	1	22	1	0	0	0	0	0	0	0	1	14319	1078	38	1		1	SHANK1	19	51220126	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27568	51220126	7908857	18924	21070											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	141					0	0	1	0	0	T	51226907	A	T	51226907	3	4	22	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	18925	21071											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	51					0	0	1	0	0	T	51228461	C	T	51228461	3	4	22	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	18926	21072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	510					0	0	1	0	0	T	51274701	C	T	51274701	4	4	22	1	0	0	0	0	0	1	0	0	6728	760	27	1	846	1	GPR32	19	51274701	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46240	51274701	7854282	18927	21073											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000598239.1_Missense_Mutation_p.R104H|KLK15_ENST00000416184.1_Missense_Mutation_p.R104H|KLK15_ENST00000301421.2_Missense_Mutation_p.R104H|KLK15_ENST00000596931.1_Missense_Mutation_p.R103H	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													25	512					0	0	1	0	0	T	51330304	C	T	51330304	3	4	22	1	0	0	0	0	1	0	0	0	8446	768	27	1	471	1	KLK15	19	51330304	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55603	51330304	7798679	18928	21074											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000598239.1_Missense_Mutation_p.R42H|KLK15_ENST00000416184.1_Missense_Mutation_p.R42H|KLK15_ENST00000301421.2_Missense_Mutation_p.R42H|KLK15_ENST00000596931.1_Missense_Mutation_p.R41H	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													15	229					0	0	1	0	0	T	51330990	C	T	51330990	3	4	22	1	0	0	0	0	1	0	0	0	8446	536	19	1	661	1	KLK15	19	51330990	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	686	51330990	7797993	18929	21075											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000595952.1_Intron|KLK3_ENST00000593997.1_Silent_p.L100L|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000326003.2_Silent_p.L100L			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													45	205					4.01765e-15	4.38033e-15	1	1	0	A	51361378	C	A	51361378	2	1	22	1	0	0	0	0	0	0	0	1	8448	900	32	2		2	KLK3	19	51361378	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30388	51361378	7767605	18930	21076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000597707.1_Missense_Mutation_p.A50V|KLK7_ENST00000336317.4_Missense_Mutation_p.A9V|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Missense_Mutation_p.A122V	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													49	202					0	0	1	0	0	A	51483600	G	A	51483600	3	1	22	1	0	0	0	0	1	0	0	0	8452	1203	42	2	408	2	KLK7	19	51483600	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122222	51483600	7645383	18931	21077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000597707.1_5'UTR|KLK7_ENST00000336317.4_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Silent_p.G27G	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													7	103					0	0	1	0	0	G	51485163	A	G	51485163	2	3	22	1	0	0	0	0	0	0	0	1	8452	146	6	3		3	KLK7	19	51485163	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1563	51485163	7643820	18932	21078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000595547.1_Intron|KLK13_ENST00000335422.3_Intron|KLK13_ENST00000596955.1_Missense_Mutation_p.I107V	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													65	384					0	0	1	0	0	C	51563271	T	C	51563271	3	2	22	1	0	0	0	0	1	0	0	0	8444	1406	49	3	526	3	KLK13	19	51563271	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	78108	51563271	7565712	18933	21079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	1267					0	0	1	0	0	A	51582124	G	A	51582124	3	1	22	1	0	0	0	0	1	0	0	0	8445	1145	40	1	212	1	KLK14	19	51582124	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18853	51582124	7546859	18934	21080											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000305628.7_Intron|SIGLEC7_ENST00000600577.1_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													39	501					0	0	1	0	0	G	51647836	A	G	51647836	3	3	22	1	0	0	0	0	1	0	0	0	14368	159	6	3	613	3	SIGLEC7	19	51647836	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65712	51647836	7481147	18935	21081											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000391796.3_Silent_p.V29V|CD33_ENST00000436584.2_Intron|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													77	325					0	0	1	0	0	A	51728523	G	A	51728523	2	1	22	1	0	0	0	0	0	0	0	1	3027	1277	45	2		2	CD33	19	51728523	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80687	51728523	7400460	18936	21082											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000262262.4_Missense_Mutation_p.K159N|CD33_ENST00000421133.2_Missense_Mutation_p.K32N			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													126	527					0	0	1	0	0	C	51729117	A	C	51729117	3	2	22	1	0	0	0	0	1	0	0	0	3027	11	1	3	487	3	CD33	19	51729117	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	594	51729117	7399866	18937	21083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600427.1_Missense_Mutation_p.D26N|NKG7_ENST00000595217.1_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													128	416					0	0	1	0	0	T	51875714	C	T	51875714	3	4	22	1	0	0	0	0	1	0	0	0	10490	884	31	1	437	1	NKG7	19	51875714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146597	51875714	7253269	18938	21084											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													175	734					0	0	1	0	0	T	51883833	C	T	51883833	3	4	22	1	0	0	0	0	1	0	0	0	8835	768	27	1	143	1	LIM2	19	51883833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8119	51883833	7245150	18939	21085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436984.2_Missense_Mutation_p.V322I|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.V312I|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_ENST00000339313.5_Missense_Mutation_p.V370I|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.V280I	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													47	317					0	0	1	0	0	T	51918657	C	T	51918657	3	4	22	1	0	0	0	0	1	0	0	0	14361	565	20	2	1005	2	SIGLEC10	19	51918657	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34824	51918657	7210326	18940	21086											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	495					0	0	1	0	0	A	51957546	G	A	51957546	3	1	22	1	0	0	0	0	1	0	0	0	14369	1059	37	1	335	1	SIGLEC8	19	51957546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38889	51957546	7171437	18941	21087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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													84	416					0	0	1	0	0	A	51960443	G	A	51960443	3	1	22	1	0	0	0	0	1	0	0	0	14369	1203	42	2	743	2	SIGLEC8	19	51960443	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2897	51960443	7168540	18942	21088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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													111	411					0	0	1	0	0	T	51960871	C	T	51960871	3	4	22	1	0	0	0	0	1	0	0	0	14369	594	21	2	946	2	SIGLEC8	19	51960871	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	428	51960871	7168112	18943	21089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	87					0	0	1	0	0	T	51983672	C	T	51983672	2	4	22	1	0	0	0	0	0	0	0	1	3211	871	31	1		1	CEACAM18	19	51983672	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22801	51983672	7145311	18944	21090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	111					0	0	1	0	0	G	51983707	A	G	51983707	3	3	22	1	0	0	0	0	1	0	0	0	3211	246	9	3	366	3	CEACAM18	19	51983707	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35	51983707	7145276	18945	21091											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	269					0	0	1	0	0	A	52004877	G	A	52004877	2	1	22	1	0	0	0	0	0	0	0	1	14363	1190	42	2		2	SIGLEC12	19	52004877	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21170	52004877	7124106	18946	21092											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000425629.3_Missense_Mutation_p.V217G|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.V206G|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.V181G|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.V217G|SIGLEC6_ENST00000359982.4_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													99	409					0	0	1	0	0	C	52033991	A	C	52033991	3	2	22	1	0	0	0	0	1	0	0	0	14367	159	6	3	768	3	SIGLEC6	19	52033991	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29114	52033991	7094992	18947	21093											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	404					0	0	1	0	0	G	52090174	A	G	52090174	3	3	22	1	0	0	0	0	1	0	0	0	17803	14	1	3	604	3	ZNF175	19	52090174	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56183	52090174	7038809	18948	21094											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000599649.1_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000429354.3_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													52	188					0	0	1	0	0	C	52131089	T	C	52131089	3	2	22	1	0	0	0	0	1	0	0	0	14366	1638	57	3	680	3	SIGLEC5	19	52131089	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	40915	52131089	6997894	18949	21095											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SIGLEC5_ENST00000599649.1_Missense_Mutation_p.L137S|SIGLEC14_ENST00000360844.6_Missense_Mutation_p.L137S|SIGLEC5_ENST00000429354.3_Intron			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													29	638					0	0	1	0	0	G	52149521	A	G	52149521	3	3	22	1	0	0	0	0	1	0	0	0	14366	131	5	3		3	SIGLEC5	19	52149521	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18432	52149521	6979462	18950	21096											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	118					0	0	1	0	0	G	52216735	A	G	52216735	3	3	22	1	0	0	0	0	1	0	0	0	7002	159	6	3	58	3	HAS1	19	52216735	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67214	52216735	6912248	18951	21097											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000222115.1_Missense_Mutation_p.Y383H|HAS1_ENST00000594621.1_Missense_Mutation_p.V212A			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													32	117					0	0	1	0	0	G	52217270	A	G	52217270	3	3	22	1	0	0	0	0	1	0	0	0	7002	391	14	3	593	3	HAS1	19	52217270	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	535	52217270	6911713	18952	21098											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	301					9.10829e-22	1.02804e-21	1	1	0	T	52250008	G	T	52250008	3	4	22	1	0	0	0	0	1	0	0	0	6072	933	33	2	816	2	FPR1	19	52250008	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32738	52250008	6878975	18953	21099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	371					0	0	1	0	0	A	52327369	G	A	52327369	3	1	22	1	0	0	0	0	1	0	0	0	6074	1087	38	1	370	1	FPR3	19	52327369	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77361	52327369	6801614	18954	21100											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000301399.5_Silent_p.S420S|ZNF577_ENST00000412216.1_Intron|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													61	327					0	0	1	0	0	A	52375983	T	A	52375983	2	1	22	1	0	0	0	0	0	0	0	1	18066	1567	55	5		5	ZNF577	19	52375983	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	48614	52375983	6753000	18955	21101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000301399.5_Missense_Mutation_p.R253W|ZNF577_ENST00000412216.1_Intron|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													50	180					0	0	1	0	0	A	52376486	G	A	52376486	3	1	22	1	0	0	0	0	1	0	0	0	18066	1115	39	1	704	1	ZNF577	19	52376486	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	503	52376486	6752497	18956	21102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													138	586					2.06835e-67	2.61997e-67	1	1	0	A	52394210	C	A	52394210	3	1	22	1	0	0	0	0	1	0	0	0	18121	912	32	2	342	2	ZNF649	19	52394210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17724	52394210	6734773	18957	21103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													133	605					4.89831e-52	6.08832e-52	1	1	0	A	52394796	C	A	52394796	3	1	22	1	0	0	0	0	1	0	0	0	18121	913	32	2	928	2	ZNF649	19	52394796	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	586	52394796	6734187	18958	21104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	286					0	0	1	0	0	T	52447542	C	T	52447542	2	4	22	1	0	0	0	0	0	0	0	1	18095	564	20	2		2	ZNF613	19	52447542	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52746	52447542	6681441	18959	21105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	411					0	0	1	0	0	A	52448197	G	A	52448197	3	1	22	1	0	0	0	0	1	0	0	0	18095	1087	38	1	1075	1	ZNF613	19	52448197	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	655	52448197	6680786	18960	21106											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	280					0	0	1	0	0	G	52448557	A	G	52448557	3	3	22	1	0	0	0	0	1	0	0	0	18095	159	6	3	1435	3	ZNF613	19	52448557	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	360	52448557	6680426	18961	21107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	265					0	0	1	0	0	C	52468200	T	C	52468200	2	2	22	1	0	0	0	0	0	0	0	1	17920	1422	50	3		3	ZNF350	19	52468200	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19643	52468200	6660783	18962	21108											
ZNF615	284370	broad.mit.edu	37	chr19	52496865	52496865	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtgaagccttttccacaAtcattgcatatatatggctt	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52496865A>C	ENST00000602063.1	-	6	1813	c.1464T>G	c.(1462-1464)gaT>gaG	p.D488E	ZNF615_ENST00000391795.3_Missense_Mutation_p.D493E|ZNF615_ENST00000376716.5_Missense_Mutation_p.D488E|ZNF615_ENST00000594083.1_Missense_Mutation_p.D499E|ZNF615_ENST00000598071.1_Missense_Mutation_p.D499E			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	488					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)		CTTTTCCACAATCATTGCATA	0.438													64	207					0	0	1	0	0	C	52496865	A	C	52496865	3	2	22	1	0	0	0	0	1	0	0	0	18097	98	4	3	735	3	ZNF615	19	52496865	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28665	52496865	6632118	18963	21109											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000391795.3_Silent_p.P460P|ZNF615_ENST00000376716.5_Silent_p.P455P|ZNF615_ENST00000594083.1_Silent_p.P466P|ZNF615_ENST00000598071.1_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													52	223					0	0	1	0	0	A	52496964	G	A	52496964	2	1	22	1	0	0	0	0	0	0	0	1	18097	987	35	2		2	ZNF615	19	52496964	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99	52496964	6632019	18964	21110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000391795.3_Missense_Mutation_p.L392I|ZNF615_ENST00000376716.5_Missense_Mutation_p.L387I|ZNF615_ENST00000594083.1_Missense_Mutation_p.L398I|ZNF615_ENST00000598071.1_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													83	340					1.10345e-40	1.33888e-40	1	1	0	T	52497170	G	T	52497170	3	4	22	1	0	0	0	0	1	0	0	0	18097	942	33	2	1040	2	ZNF615	19	52497170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	206	52497170	6631813	18965	21111											
ZNF615	284370	broad.mit.edu	37	chr19	52497300	52497300	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcactacatatataAggtttttctcctgtatgagt	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52497300A>C	ENST00000602063.1	-	6	1378	c.1029T>G	c.(1027-1029)ccT>ccG	p.P343P	ZNF615_ENST00000391795.3_Silent_p.P348P|ZNF615_ENST00000376716.5_Silent_p.P343P|ZNF615_ENST00000594083.1_Silent_p.P354P|ZNF615_ENST00000598071.1_Silent_p.P354P			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	343					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)		TACATATATAAGGTTTTTCTC	0.403													108	456					0	0	1	0	0	C	52497300	A	C	52497300	2	2	22	1	0	0	0	0	0	0	0	1	18097	59	3	3		3	ZNF615	19	52497300	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	130	52497300	6631683	18966	21112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	495					0	0	1	0	0	A	52519953	G	A	52519953	3	1	22	1	0	0	0	0	1	0	0	0	18096	1087	38	1	863	1	ZNF614	19	52519953	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22653	52519953	6609030	18967	21113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	220					3.10996e-30	3.64561e-30	1	1	0	T	52520505	G	T	52520505	3	4	22	1	0	0	0	0	1	0	0	0	18096	942	33	2	1415	2	ZNF614	19	52520505	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	552	52520505	6608478	18968	21114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	173					0	0	1	0	0	G	52550105	A	G	52550105	5	3	22	1	0	0	0	0	0	0	1	0	17963	173	6	3	1957	3	ZNF432	19	52550105	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29600	52550105	6578878	18969	21115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	362					0	0	1	0	0	C	52618157	A	C	52618157	3	2	22	1	0	0	0	0	1	0	0	0	18098	14	1	3	89	3	ZNF616	19	52618157	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	68052	52618157	6510826	18970	21116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	378					0.00307968	0.00310409	1	1	0	T	52618727	G	T	52618727	3	4	22	1	0	0	0	0	1	0	0	0	18098	942	33	2	659	2	ZNF616	19	52618727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	570	52618727	6510256	18971	21117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	560					1.08114e-33	1.28246e-33	1	1	0	A	52619913	C	A	52619913	3	1	22	1	0	0	0	0	1	0	0	0	18098	912	32	2	1845	2	ZNF616	19	52619913	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1186	52619913	6509070	18972	21118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	255					0	0	1	0	0	T	52658722	C	T	52658722	2	4	22	1	0	0	0	0	0	0	0	1	18234	523	19	1		1	ZNF836	19	52658722	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38809	52658722	6470261	18973	21119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	395					0	0	1	0	0	C	52658887	T	C	52658887	2	2	22	1	0	0	0	0	0	0	0	1	18234	1722	60	3		3	ZNF836	19	52658887	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	165	52658887	6470096	18974	21120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q390H|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q514H	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								94	416					5.82527e-40	7.05318e-40	1	1	0	T	52729015	G	T	52729015	3	4	22	1	0	0	0	0	1	0	0	0	12431	991	35	2	1761	2	PPP2R1A	19	52729015	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70128	52729015	6399968	18975	21121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_Intron|ZNF480_ENST00000335090.6_Nonsense_Mutation_p.W9*|ZNF480_ENST00000334564.7_Intron	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													7	242					0	0	1	0	0	A	52819145	G	A	52819145	4	1	22	1	0	0	0	0	0	1	0	0	17992	1270	44	2	268	2	ZNF480	19	52819145	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90130	52819145	6309838	18976	21122											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Missense_Mutation_p.Q115H|ZNF480_ENST00000334564.7_Missense_Mutation_p.Q149H	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													39	395					0	0	1	0	0	C	52825079	A	C	52825079	3	2	22	1	0	0	0	0	1	0	0	0	17992	69	3	3	590	3	ZNF480	19	52825079	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5934	52825079	6303904	18977	21123	142	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Nonsense_Mutation_p.E116*|ZNF480_ENST00000334564.7_Nonsense_Mutation_p.E150*	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													38	394					3.30226e-22	3.73289e-22	1	1	0	T	52825080	G	T	52825080	4	4	22	1	0	0	0	0	0	1	0	0	17992	943	33	2	591	2	ZNF480	19	52825080	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1	52825080	6303903	18978	21124	142	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Silent_p.E123E|ZNF480_ENST00000334564.7_Silent_p.E157E	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													41	371					0	0	1	0	0	G	52825103	A	G	52825103	2	3	22	1	0	0	0	0	0	0	0	1	17992	11	1	3		3	ZNF480	19	52825103	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23	52825103	6303880	18979	21125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Missense_Mutation_p.K152Q|ZNF480_ENST00000334564.7_Missense_Mutation_p.K186Q	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													65	277					0	0	1	0	0	C	52825188	A	C	52825188	3	2	22	1	0	0	0	0	1	0	0	0	17992	247	9	3	699	3	ZNF480	19	52825188	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	85	52825188	6303795	18980	21126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Nonsense_Mutation_p.R227*|ZNF480_ENST00000334564.7_Nonsense_Mutation_p.R261*	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													15	317					0	0	1	0	0	T	52825413	C	T	52825413	4	4	22	1	0	0	0	0	0	1	0	0	17992	528	19	1	924	1	ZNF480	19	52825413	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	225	52825413	6303570	18981	21127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	131					0	0	1	0	0	G	52887625	A	G	52887625	2	3	22	1	0	0	0	0	0	0	0	1	18240	291	11	3		3	ZNF880	19	52887625	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	62212	52887625	6241358	18982	21128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	397					0	0	1	0	0	T	52918959	C	T	52918959	3	4	22	1	0	0	0	0	1	0	0	0	18026	710	25	2	868	2	ZNF528	19	52918959	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31334	52918959	6210024	18983	21129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	312					0	0	1	0	0	A	52919388	G	A	52919388	3	1	22	1	0	0	0	0	1	0	0	0	18026	1058	37	1	1297	1	ZNF528	19	52919388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	429	52919388	6209595	18984	21130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.R204H	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													69	236					0	0	1	0	0	A	52941324	G	A	52941324	3	1	22	1	0	0	0	0	1	0	0	0	18030	1145	40	1	664	1	ZNF534	19	52941324	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21936	52941324	6187659	18985	21131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.R595Q	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													9	37					0	0	1	0	0	A	52942497	G	A	52942497	3	1	22	1	0	0	0	0	1	0	0	0	18030	1058	37	1	1837	1	ZNF534	19	52942497	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1173	52942497	6186486	18986	21132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	316					1.43675e-24	1.64411e-24	1	1	0	T	53005079	G	T	53005079	5	4	22	1	0	0	0	0	0	0	1	0	18067	1014	35	2		2	ZNF578	19	53005079	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62582	53005079	6123904	18987	21133											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													154	725					0	0	1	0	0	G	53014089	T	G	53014089	3	3	22	1	0	0	0	0	1	0	0	0	18067	1493	52	3	465	3	ZNF578	19	53014089	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9010	53014089	6114894	18988	21134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	888					0	0	1	0	0	C	53056883	A	C	53056883	3	2	22	1	0	0	0	0	1	0	0	0	18221	69	3	3	724	3	ZNF808	19	53056883	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	42794	53056883	6072100	18989	21135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	538					0	0	1	0	0	A	53057635	G	A	53057635	3	1	22	1	0	0	0	0	1	0	0	0	18221	1087	38	1	1476	1	ZNF808	19	53057635	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	752	53057635	6071348	18990	21136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	310					0	0	1	0	0	A	53058088	G	A	53058088	3	1	22	1	0	0	0	0	1	0	0	0	18221	1058	37	1	1929	1	ZNF808	19	53058088	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	453	53058088	6070895	18991	21137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.K200E|ZNF701_ENST00000391785.3_Missense_Mutation_p.K134E	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													36	753					0	0	1	0	0	G	53085712	A	G	53085712	3	3	22	1	0	0	0	0	1	0	0	0	18161	131	5	3	612	3	ZNF701	19	53085712	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27624	53085712	6043271	18992	21138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.V400I|ZNF701_ENST00000391785.3_Missense_Mutation_p.V334I	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													80	506					0	0	1	0	0	A	53086312	G	A	53086312	3	1	22	1	0	0	0	0	1	0	0	0	18161	1029	36	2	1212	2	ZNF701	19	53086312	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	600	53086312	6042671	18993	21139											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.R412I|ZNF701_ENST00000391785.3_Missense_Mutation_p.R346I	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													125	529					8.41509e-73	1.07079e-72	1	1	0	T	53086349	G	T	53086349	3	4	22	1	0	0	0	0	1	0	0	0	18161	942	33	2	1249	2	ZNF701	19	53086349	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	53086349	6042634	18994	21140											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536937.1_Missense_Mutation_p.F75C|ZNF83_ENST00000545872.1_Missense_Mutation_p.F75C|ZNF83_ENST00000301096.3_Missense_Mutation_p.F75C|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.F75C|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.F75C|ZNF83_ENST00000391789.4_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													58	222					0	0	1	0	0	C	53117594	A	C	53117594	3	2	22	1	0	0	0	0	1	0	0	0	18230	14	1	3	1330	3	ZNF83	19	53117594	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31245	53117594	6011389	18995	21141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000602162.1_Missense_Mutation_p.R517I|ZNF611_ENST00000453741.2_Missense_Mutation_p.R517I|ZNF611_ENST00000319783.1_Missense_Mutation_p.R586I|ZNF611_ENST00000540744.1_Missense_Mutation_p.R586I|ZNF611_ENST00000595798.1_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													242	1116					1.14397e-64	1.44579e-64	1	1	0	A	53208551	C	A	53208551	3	1	22	1	0	0	0	0	1	0	0	0	18094	913	32	2	364	2	ZNF611	19	53208551	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90957	53208551	5920432	18996	21142											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_940859.2	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													175	698					0	0	1	0	0	T	53270299	C	T	53270299	3	4	22	1	0	0	0	0	1	0	0	0	18087	536	19	1	1462	1	ZNF600	19	53270299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61748	53270299	5858684	18997	21143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457749.2_Silent_p.A291A|ZNF28_ENST00000414252.2_Silent_p.A238A|ZNF28_ENST00000360272.4_Silent_p.A238A			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													117	505					0	0	1	0	0	T	53304225	C	T	53304225	2	4	22	1	0	0	0	0	0	0	0	1	17871	755	27	1		1	ZNF28	19	53304225	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33926	53304225	5824758	18998	21144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457749.2_Missense_Mutation_p.R262H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R209H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R209H			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													97	429					0	0	1	0	0	T	53304313	C	T	53304313	3	4	22	1	0	0	0	0	1	0	0	0	17871	536	19	1	1375	1	ZNF28	19	53304313	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	53304313	5824670	18999	21145											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000391781.2_Missense_Mutation_p.R76K|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	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													194	753					0	0	1	0	0	T	53385152	C	T	53385152	3	4	22	1	0	0	0	0	1	0	0	0	17896	913	32	2	1306	2	ZNF320	19	53385152	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80839	53385152	5743831	19000	21146											
ZNF160	90338	broad.mit.edu	37	chr19	53572121	53572121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctccagaatgaattccccGatgacttctaaggtgtgatt	8	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53572121G>A	ENST00000601421.1	-	3	2434	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	ZNF160_ENST00000418871.1_Missense_Mutation_p.R556W|ZNF160_ENST00000599056.1_Missense_Mutation_p.R556W|ZNF160_ENST00000429604.1_Missense_Mutation_p.R556W			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	556					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)		TGAATTCCCCGATGACTTCTA	0.413													98	442					0	0	1	0	0	A	53572121	G	A	53572121	3	1	22	1	0	0	0	0	1	0	0	0	17797	1057	37	1	794	1	ZNF160	19	53572121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	186969	53572121	5556862	19001	21147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440291.1_Missense_Mutation_p.A415V|ZNF415_ENST00000448501.1_Missense_Mutation_p.A476V|ZNF415_ENST00000421033.1_Missense_Mutation_p.A440V|ZNF415_ENST00000601493.1_Missense_Mutation_p.A198V|ZNF415_ENST00000243643.4_Missense_Mutation_p.A428V|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000500065.4_Missense_Mutation_p.A428V			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													116	470					0	0	1	0	0	A	53612015	G	A	53612015	3	1	22	1	0	0	0	0	1	0	0	0	17949	1087	38	1	388	1	ZNF415	19	53612015	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39894	53612015	5516968	19002	21148											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440291.1_Silent_p.E396E|ZNF415_ENST00000448501.1_Silent_p.E457E|ZNF415_ENST00000421033.1_Silent_p.E421E|ZNF415_ENST00000601493.1_Silent_p.E179E|ZNF415_ENST00000243643.4_Silent_p.E409E|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000500065.4_Silent_p.E409E			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													68	266					0	0	1	0	0	T	53612071	C	T	53612071	2	4	22	1	0	0	0	0	0	0	0	1	17949	912	32	2		2	ZNF415	19	53612071	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56	53612071	5516912	19003	21149											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Nonsense_Mutation_p.R328*	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													125	473					0	0	1	0	0	A	53645099	G	A	53645099	4	1	22	1	0	0	0	0	0	1	0	0	17918	1066	37	1	1541	1	ZNF347	19	53645099	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33028	53645099	5483884	19004	21150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.C319R	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													68	598					0	0	1	0	0	G	53645126	A	G	53645126	3	3	22	1	0	0	0	0	1	0	0	0	17918	217	8	3	1568	3	ZNF347	19	53645126	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27	53645126	5483857	19005	21151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.A28T	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													127	534					0	0	1	0	0	T	53652554	C	T	53652554	3	4	22	1	0	0	0	0	1	0	0	0	17918	768	27	1	2452	1	ZNF347	19	53652554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7428	53652554	5476429	19006	21152											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	132					0	0	1	0	0	A	53667726	G	A	53667726	4	1	22	1	0	0	0	0	0	1	0	0	18130	1066	37	1	23	1	ZNF665	19	53667726	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15172	53667726	5461257	19007	21153											
ZNF665	79788	broad.mit.edu	37	chr19	53668078	53668078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgatgaattgcaaggtaCgaattgtgtctgaagacctt	10	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53668078C>T	ENST00000600412.1	-	2	1585	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S	ZNF665_ENST00000396424.3_Silent_p.S555S			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	490					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)		TTGCAAGGTACGAATTGTGTC	0.388													110	470					0	0	1	0	0	T	53668078	C	T	53668078	2	4	22	1	0	0	0	0	0	0	0	1	18130	523	19	1		1	ZNF665	19	53668078	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	352	53668078	5460905	19008	21154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	622					0	0	1	0	0	C	53668976	T	C	53668976	3	2	22	1	0	0	0	0	1	0	0	0	18130	1464	51	3	1273	3	ZNF665	19	53668976	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	898	53668976	5460007	19009	21155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	1071					0	0	1	0	0	A	53669537	G	A	53669537	3	1	22	1	0	0	0	0	1	0	0	0	18130	1087	38	1	1834	1	ZNF665	19	53669537	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	561	53669537	5459446	19010	21156											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	542					0	0	1	0	0	G	53678811	A	G	53678811	3	3	22	1	0	0	0	0	1	0	0	0	18130	246	9	3	2015	3	ZNF665	19	53678811	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9274	53678811	5450172	19011	21157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	236					0	0	1	0	0	T	53741328	C	T	53741328	3	4	22	1	0	0	0	0	1	0	0	0	18141	835	29	2	1106	2	ZNF677	19	53741328	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62517	53741328	5387655	19012	21158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	313					0	0	1	0	0	T	53741428	C	T	53741428	2	4	22	1	0	0	0	0	0	0	0	1	18141	813	29	2		2	ZNF677	19	53741428	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100	53741428	5387555	19013	21159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000594681.1_Silent_p.N40N|ZNF677_ENST00000599012.1_Silent_p.N40N|ZNF677_ENST00000598806.1_Silent_p.N40N|ZNF677_ENST00000601828.1_Silent_p.N40N|ZNF677_ENST00000598513.1_Silent_p.N40N|ZNF677_ENST00000601413.1_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													91	385					0	0	1	0	0	A	53747046	G	A	53747046	2	1	22	1	0	0	0	0	0	0	0	1	18141	1020	36	2		2	ZNF677	19	53747046	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5618	53747046	5381937	19014	21160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	213					0	0	1	0	0	G	53762196	A	G	53762196	3	3	22	1	0	0	0	0	1	0	0	0	17239	159	6	3	570	3	VN1R2	19	53762196	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15150	53762196	5366787	19015	21161											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													206	866					0	0	1	0	0	A	53762652	G	A	53762652	3	1	22	1	0	0	0	0	1	0	0	0	17239	1058	37	1	1026	1	VN1R2	19	53762652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	456	53762652	5366331	19016	21162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	402					1.32003e-40	1.60129e-40	1	1	0	A	53793138	C	A	53793138	4	1	22	1	0	0	0	0	0	1	0	0	1439	835	29	2	224	2	BIRC8	19	53793138	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30486	53793138	5335845	19017	21163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	193					3.4345e-17	3.7875e-17	1	1	0	A	53912333	C	A	53912333	3	1	22	1	0	0	0	0	1	0	0	0	18189	681	24	2	1535	2	ZNF765	19	53912333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119195	53912333	5216650	19018	21164											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	50					0	0	1	0	0	A	53945280	G	A	53945280	1	1	22	0	1	0	0	0	0	0	0	0	18186	1189	41	2		2	ZNF761	19	53945280	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32947	53945280	5183703	19019	21165											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	469					0	0	1	0	0	G	53959326	A	G	53959326	1	3	22	0	1	0	0	0	0	0	0	0	18186	391	14	3		3	ZNF761	19	53959326	RNA	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14046	53959326	5169657	19020	21166											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	283					0	0	1	0	0	A	53994876	G	A	53994876	3	1	22	1	0	0	0	0	1	0	0	0	18223	943	33	2	1400	2	ZNF813	19	53994876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35550	53994876	5134107	19021	21167											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000513999.1_Silent_p.D33D|ZNF331_ENST00000411977.2_Silent_p.D33D|ZNF331_ENST00000512387.1_Silent_p.D33D|ZNF331_ENST00000513265.1_Silent_p.D33D|ZNF331_ENST00000511593.2_Silent_p.D33D|ZNF331_ENST00000449416.1_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								204	915					0	0	1	0	0	T	54074947	C	T	54074947	2	4	22	1	0	0	0	0	0	0	0	1	17906	535	19	1		1	ZNF331	19	54074947	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80071	54074947	5054036	19022	21168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000513999.1_Silent_p.Y243Y|ZNF331_ENST00000411977.2_Silent_p.Y243Y|ZNF331_ENST00000512387.1_Silent_p.Y243Y|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000511593.2_Silent_p.Y243Y|ZNF331_ENST00000449416.1_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								98	353					0	0	1	0	0	T	54080543	C	T	54080543	2	4	22	1	0	0	0	0	0	0	0	1	17906	547	19	1		1	ZNF331	19	54080543	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5596	54080543	5048440	19023	21169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	352					0	0	1	0	0	A	54137909	G	A	54137909	2	1	22	1	0	0	0	0	0	0	0	1	4764	1045	37	1		1	DPRX	19	54137909	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57366	54137909	4991074	19024	21170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535162.1_Missense_Mutation_p.A765T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A765T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A766T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A765T|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													134	625					0	0	1	0	0	T	54308655	C	T	54308655	3	4	22	1	0	0	0	0	1	0	0	0	10521	797	28	2	916	2	NLRP12	19	54308655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170746	54308655	4820328	19025	21171											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535162.1_Missense_Mutation_p.R561H|NLRP12_ENST00000391775.3_Missense_Mutation_p.R561H|NLRP12_ENST00000391773.1_Missense_Mutation_p.R561H|NLRP12_ENST00000351894.4_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													96	520					0	0	1	0	0	T	54313231	C	T	54313231	3	4	22	1	0	0	0	0	1	0	0	0	10521	768	27	1	1631	1	NLRP12	19	54313231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4576	54313231	4815752	19026	21172											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535162.1_Silent_p.E321E|NLRP12_ENST00000391775.3_Silent_p.E321E|NLRP12_ENST00000391773.1_Silent_p.E321E|NLRP12_ENST00000351894.4_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													91	308					0	0	1	0	0	T	54313950	C	T	54313950	2	4	22	1	0	0	0	0	0	0	0	1	10521	796	28	2		2	NLRP12	19	54313950	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	719	54313950	4815033	19027	21173											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000336967.3_Silent_p.I146I|MYADM_ENST00000391771.1_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													85	429					0	0	1	0	0	T	54377221	C	T	54377221	2	4	22	1	0	0	0	0	0	0	0	1	10054	874	31	1		1	MYADM	19	54377221	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63271	54377221	4751762	19028	21174											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000336967.3_Silent_p.Y151Y|MYADM_ENST00000391771.1_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													79	415					0	0	1	0	0	T	54377236	C	T	54377236	2	4	22	1	0	0	0	0	0	0	0	1	10054	547	19	1		1	MYADM	19	54377236	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	54377236	4751747	19029	21175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000336967.3_Silent_p.C213C|MYADM_ENST00000391771.1_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													164	638					0	0	1	0	0	T	54377422	C	T	54377422	2	4	22	1	0	0	0	0	0	0	0	1	10054	805	28	2		2	MYADM	19	54377422	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186	54377422	4751561	19030	21176											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	304					0	0	1	0	0	T	54401709	C	T	54401709	3	4	22	1	0	0	0	0	1	0	0	0	12564	768	27	1	1150	1	PRKCG	19	54401709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24287	54401709	4727274	19031	21177											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	229					0	0	1	0	0	T	54403724	C	T	54403724	2	4	22	1	0	0	0	0	0	0	0	1	12564	697	25	2		2	PRKCG	19	54403724	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2015	54403724	4725259	19032	21178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376626.1_Nonsense_Mutation_p.G196*|VSTM1_ENST00000425006.2_3'UTR|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													34	154					3.03874e-20	3.40186e-20	1	1	0	A	54544247	C	A	54544247	4	1	22	1	0	0	0	0	0	1	0	0	17288	690	24	2	35	2	VSTM1	19	54544247	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140523	54544247	4584736	19033	21179											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376626.1_Missense_Mutation_p.G172E|VSTM1_ENST00000425006.2_3'UTR|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													24	75					0	0	1	0	0	T	54544318	C	T	54544318	3	4	22	1	0	0	0	0	1	0	0	0	17288	855	30	2	106	2	VSTM1	19	54544318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71	54544318	4584665	19034	21180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359649.4_Missense_Mutation_p.P60L|OSCAR_ENST00000351806.4_Missense_Mutation_p.P45L|OSCAR_ENST00000356532.3_Missense_Mutation_p.P60L|OSCAR_ENST00000358375.4_Missense_Mutation_p.P56L|OSCAR_ENST00000391761.1_Missense_Mutation_p.P45L|OSCAR_ENST00000391760.1_Intron			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													98	541					0	0	1	0	0	A	54600355	G	A	54600355	3	1	22	1	0	0	0	0	1	0	0	0	11332	1232	43	2	830	2	OSCAR	19	54600355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56037	54600355	4528628	19035	21181											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000221232.5_Missense_Mutation_p.R90W|CNOT3_ENST00000358389.3_5'UTR			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													77	441					0	0	1	0	0	T	54647751	C	T	54647751	3	4	22	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	19036	21182											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000221232.5_Missense_Mutation_p.R177H|CNOT3_ENST00000358389.3_5'UTR			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													39	158					0	0	1	0	0	A	54649380	G	A	54649380	3	1	22	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	19037	21183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000221232.5_Silent_p.S396S|CNOT3_ENST00000358389.3_Silent_p.S215S			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													25	91					0	0	1	0	0	T	54652176	C	T	54652176	2	4	22	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	19038	21184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54659048G>T	ENST00000406403.1	+	17	3768	c.2163_splice	c.e17-1	p.G722_splice	CNOT3_ENST00000221232.5_Splice_Site_p.G722_splice|LENG1_ENST00000222224.3_3'UTR			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													16	105					2.23348e-06	2.30073e-06	1	1	0	T	54659048	G	T	54659048	5	4	22	1	0	0	0	0	0	0	1	0	3643	1217	42	2	2231	2	CNOT3	19	54659048	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6872	54659048	4469935	19039	21185											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CNOT3_ENST00000221232.5_Missense_Mutation_p.R735W|LENG1_ENST00000222224.3_3'UTR			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													15	102					0	0	1	0	0	T	54659086	C	T	54659086	3	4	22	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	19040	21186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	590					8.60227e-14	9.30909e-14	1	1	0	T	54660522	G	T	54660522	3	4	22	1	0	0	0	0	1	0	0	0	8762	942	33	2	248	2	LENG1	19	54660522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1436	54660522	4468461	19041	21187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001138775.1|NP_653287.1	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													21	104					0	0	1	0	0	G	54669172	A	G	54669172	3	3	22	1	0	0	0	0	1	0	0	0	16047	333	12	3	1234	3	TMC4	19	54669172	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8650	54669172	4459811	19042	21188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.K424N|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000391735.3_Intron	NM_024318.2	NP_077294.2			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													40	426					3.66105e-37	4.39389e-37	1	1	0	A	54742952	C	A	54742952	3	1	22	1	0	0	0	0	1	0	0	0	8829	680	24	2	126	2	LILRA6	19	54742952	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73780	54742952	4386031	19043	21189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.A135V|LILRA6_ENST00000419410.2_Missense_Mutation_p.A135V|LILRA6_ENST00000270464.5_Missense_Mutation_p.A135V|LILRA6_ENST00000396365.2_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													85	935					0	0	1	0	0	A	54745706	G	A	54745706	3	1	22	1	0	0	0	0	1	0	0	0	8829	1203	42	2	1061	2	LILRA6	19	54745706	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2754	54745706	4383277	19044	21190											
LILRB5	0	broad.mit.edu	37	chr19	54754889	54754889	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actctctcagtgtccatctgTctgtcctcttctgcctgtct	6	15	7	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54754889T>C	ENST00000450632.1	-	13	1823	c.1746A>G	c.(1744-1746)agA>agG	p.R582R	LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	388					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)		TGTCCATCTGTCTGTCCTCTT	0.597													15	170					0	0	1	0	0	C	54754889	T	C	54754889	2	2	22	1	0	0	0	0	0	0	0	1	8834	1682	58	3		3	LILRB5	19	54754889	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9183	54754889	4374094	19045	21191											
LILRB5	0	broad.mit.edu	37	chr19	54754901	54754901	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatctgtctgtcctcttcTgcctgtctgtcctttgtgtc	7	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54754901T>C	ENST00000450632.1	-	13	1811	c.1734A>G	c.(1732-1734)gcA>gcG	p.A578A	LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	378					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)		TGTCCTCTTCTGCCTGTCTGT	0.587													14	153					0	0	1	0	0	C	54754901	T	C	54754901	2	2	22	1	0	0	0	0	0	0	0	1	8834	1595	55	3		3	LILRB5	19	54754901	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12	54754901	4374082	19046	21192											
LILRB5	0	broad.mit.edu	37	chr19	54754990	54754990	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aggtctggagtgtttcacctCggcatacgtcactgcctggg	13	11	3	0	rs686334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54754990C>G	ENST00000450632.1	-	13	1722	c.1645G>C	c.(1645-1647)Gag>Cag	p.E549Q	LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	556					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)		TGTTTCACCTCGGCATACGTC	0.582													5	153					0	0	1	0	0	G	54754990	C	G	54754990	3	3	22	1	0	0	0	0	1	0	0	0	8834	899	31	5		5	LILRB5	19	54754990	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89	54754990	4373993	19047	21193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000316219.5_Missense_Mutation_p.R200M|LILRB5_ENST00000449561.2_Missense_Mutation_p.R200M|LILRB5_ENST00000345866.6_Intron			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													67	309					1.7104e-27	1.9812e-27	1	1	0	A	54759962	C	A	54759962	3	1	22	1	0	0	0	0	1	0	0	0	8834	681	24	2	1216	2	LILRB5	19	54759962	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4972	54759962	4369021	19048	21194											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434421.1_Missense_Mutation_p.Q448R|LILRB2_ENST00000314446.5_Missense_Mutation_p.Q563R|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000391749.4_Missense_Mutation_p.Q564R	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													108	400					0	0	1	0	0	C	54778643	T	C	54778643	3	2	22	1	0	0	0	0	1	0	0	0	8831	1580	55	3	109	3	LILRB2	19	54778643	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18681	54778643	4350340	19049	21195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434421.1_Silent_p.T126T|LILRB2_ENST00000314446.5_Silent_p.T242T|LILRB2_ENST00000391746.1_Silent_p.T242T|LILRB2_ENST00000391749.4_Silent_p.T242T	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													17	539					0	0	1	0	0	A	54782896	G	A	54782896	2	1	22	1	0	0	0	0	0	0	0	1	8831	1219	43	2		2	LILRB2	19	54782896	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4253	54782896	4346087	19050	21196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000432233.3_Missense_Mutation_p.Q161K|LILRA5_ENST00000446712.3_Missense_Mutation_p.Q149K|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_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													90	387					4.21487e-37	5.05809e-37	1	1	0	T	54822915	G	T	54822915	3	4	22	1	0	0	0	0	1	0	0	0	8828	1357	47	2	516	2	LILRA5	19	54822915	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40019	54822915	4306068	19051	21197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	196					0	0	1	0	0	A	54849305	G	A	54849305	3	1	22	1	0	0	0	0	1	0	0	0	8827	1261	44	2	962	2	LILRA4	19	54849305	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26390	54849305	4279678	19052	21198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000391739.3_Silent_p.S165S|TTYH1_ENST00000376531.3_Silent_p.S116S|TTYH1_ENST00000376530.3_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													61	306					0	0	1	0	0	C	54932493	T	C	54932493	2	2	22	1	0	0	0	0	0	0	0	1	16801	1693	59	3		3	TTYH1	19	54932493	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	83188	54932493	4196490	19053	21199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	203					5.78141e-17	6.36782e-17	1	1	0	T	54965677	G	T	54965677	3	4	22	1	0	0	0	0	1	0	0	0	8763	962	34	2	513	2	LENG8	19	54965677	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33184	54965677	4163306	19054	21200											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	231					0	0	1	0	0	T	54966209	C	T	54966209	2	4	22	1	0	0	0	0	0	0	0	1	8763	535	19	1		1	LENG8	19	54966209	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	532	54966209	4162774	19055	21201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	275					1.15773e-35	1.38295e-35	1	1	0	T	54966594	G	T	54966594	3	4	22	1	0	0	0	0	1	0	0	0	8763	991	35	2	899	2	LENG8	19	54966594	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	385	54966594	4162389	19056	21202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	280					0	0	1	0	0	A	54969152	G	A	54969152	3	1	22	1	0	0	0	0	1	0	0	0	8763	1059	37	1	1919	1	LENG8	19	54969152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2558	54969152	4159831	19057	21203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	483					0	0	1	0	0	A	55019358	G	A	55019358	3	1	22	1	0	0	0	0	1	0	0	0	8642	1174	41	2	333	2	LAIR2	19	55019358	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50206	55019358	4109625	19058	21204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	LILRA2_ENST00000391738.3_Silent_p.E113E|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.E113E|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.E101E|LILRB1_ENST00000418536.2_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)		ACCCCCTGGAGCTGGTGGTGA	0.607													70	271					0	0	1	0	0	A	55086036	G	A	55086036	2	1	22	1	0	0	0	0	0	0	0	1	8825	962	34	2		2	LILRA2	19	55086036	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66678	55086036	4042947	19059	21205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	LILRA2_ENST00000391738.3_Missense_Mutation_p.S176Y|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S176Y|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S164Y|LILRB1_ENST00000418536.2_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)		CGTGGGTGGTCCTGGGCCATC	0.567													80	695					1.8615e-32	2.19839e-32	1	1	0	A	55086372	C	A	55086372	3	1	22	1	0	0	0	0	1	0	0	0	8825	855	30	2	541	2	LILRA2	19	55086372	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	336	55086372	4042611	19060	21206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	LILRA2_ENST00000391738.3_Missense_Mutation_p.S239R|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S239R|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S227R|LILRB1_ENST00000418536.2_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													105	451					1.58909e-51	1.97261e-51	1	1	0	A	55086784	C	A	55086784	3	1	22	1	0	0	0	0	1	0	0	0	8825	738	26	2	735	2	LILRA2	19	55086784	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	412	55086784	4042199	19061	21207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_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)		CCCAGACACCTGCATGTTCTG	0.438													35	879					0	0	1	0	0	C	55263116	T	C	55263116	3	2	22	1	0	0	0	0	1	0	0	0	8360	1580	55	3	753	3	KIR2DL3	19	55263116	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	176332	55263116	3865867	19062	21208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A19T|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	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													227	390					0	0	1	0	0	A	55282321	G	A	55282321	3	1	22	1	0	0	0	0	1	0	0	0	8359	1203	42	2	61	2	KIR2DL1	19	55282321	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19205	55282321	3846662	19063	21209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000391723.3_3'UTR|FCAR_ENST00000359272.4_Missense_Mutation_p.C274Y|FCAR_ENST00000391725.3_Missense_Mutation_p.C264Y|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000353758.4_Missense_Mutation_p.C177Y|FCAR_ENST00000391726.3_Missense_Mutation_p.C178Y|FCAR_ENST00000391724.3_Missense_Mutation_p.C252Y|FCAR_ENST00000345937.4_Missense_Mutation_p.C190Y	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													113	477					0	0	1	0	0	A	55401222	G	A	55401222	3	1	22	1	0	0	0	0	1	0	0	0	5806	1319	46	2	946	2	FCAR	19	55401222	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118901	55401222	3727761	19064	21210											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447255.1_Missense_Mutation_p.T239M|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000357397.5_Missense_Mutation_p.T133M|NCR1_ENST00000350790.5_Missense_Mutation_p.T145M|NCR1_ENST00000291890.4_Missense_Mutation_p.T240M|NCR1_ENST00000598576.1_Missense_Mutation_p.T227M			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													88	422					0	0	1	0	0	T	55423572	C	T	55423572	3	4	22	1	0	0	0	0	1	0	0	0	10284	536	19	1	741	1	NCR1	19	55423572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22350	55423572	3705411	19065	21211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55451160C>A	ENST00000446217.1	-	6	1513	c.1111G>T	c.(1111-1113)Gcc>Tcc	p.A371S	NLRP7_ENST00000340844.2_Missense_Mutation_p.A343S|NLRP7_ENST00000448121.2_Missense_Mutation_p.A343S|NLRP7_ENST00000592784.1_Missense_Mutation_p.A343S|NLRP7_ENST00000590030.1_Missense_Mutation_p.A343S|NLRP7_ENST00000588756.1_Missense_Mutation_p.A343S|NLRP7_ENST00000328092.5_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													57	232					1.08241e-25	1.24348e-25	1	1	0	A	55451160	C	A	55451160	3	1	22	1	0	0	0	0	1	0	0	0	10529	797	28	2	2118	2	NLRP7	19	55451160	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27588	55451160	3677823	19066	21212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55451411T>C	ENST00000446217.1	-	6	1262	c.860A>G	c.(859-861)aAa>aGa	p.K287R	NLRP7_ENST00000340844.2_Missense_Mutation_p.K259R|NLRP7_ENST00000448121.2_Missense_Mutation_p.K259R|NLRP7_ENST00000592784.1_Missense_Mutation_p.K259R|NLRP7_ENST00000590030.1_Missense_Mutation_p.K259R|NLRP7_ENST00000588756.1_Missense_Mutation_p.K259R|NLRP7_ENST00000328092.5_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													115	512					0	0	1	0	0	C	55451411	T	C	55451411	3	2	22	1	0	0	0	0	1	0	0	0	10529	1841	64	3	2369	3	NLRP7	19	55451411	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	251	55451411	3677572	19067	21213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537859.1_Missense_Mutation_p.A367V|NLRP2_ENST00000339757.7_Missense_Mutation_p.A367V|NLRP2_ENST00000538819.1_Missense_Mutation_p.A365V|NLRP2_ENST00000391721.4_Missense_Mutation_p.A365V|NLRP2_ENST00000427260.2_Missense_Mutation_p.A366V|NLRP2_ENST00000263437.6_Missense_Mutation_p.A386V|NLRP2_ENST00000448584.2_Missense_Mutation_p.A389V	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													57	228					0	0	1	0	0	T	55494232	C	T	55494232	3	4	22	1	0	0	0	0	1	0	0	0	10524	768	27	1	1184	1	NLRP2	19	55494232	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42821	55494232	3634751	19068	21214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537859.1_Silent_p.C818C|NLRP2_ENST00000339757.7_Silent_p.C818C|NLRP2_ENST00000538819.1_Silent_p.C816C|NLRP2_ENST00000391721.4_Silent_p.C816C|NLRP2_ENST00000427260.2_Silent_p.C817C|NLRP2_ENST00000263437.6_Silent_p.C837C|NLRP2_ENST00000448584.2_Silent_p.C840C	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													81	321					0	0	1	0	0	T	55501543	C	T	55501543	2	4	22	1	0	0	0	0	0	0	0	1	10524	805	28	2		2	NLRP2	19	55501543	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7311	55501543	3627440	19069	21215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|GP6_ENST00000333884.2_3'UTR|CTC-550B14.7_ENST00000586845.1_RNA	NM_001083899.1	NP_001077368.1	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													45	235					0	0	1	0	0	G	55525665	A	G	55525665	3	3	22	1	0	0	0	0	1	0	0	0	6624	420	15	3	218	3	GP6	19	55525665	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24122	55525665	3603318	19070	21216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000417454.1_Missense_Mutation_p.P34S|GP6_ENST00000333884.2_Missense_Mutation_p.P34S|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA	NM_001083899.1	NP_001077368.1	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													37	151					0	0	1	0	0	A	55543732	G	A	55543732	3	1	22	1	0	0	0	0	1	0	0	0	6624	1203	42	2	1786	2	GP6	19	55543732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18067	55543732	3585251	19071	21217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540810.1_Intron|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000586329.1_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													39	183					0	0	1	0	0	T	55589480	C	T	55589480	2	4	22	1	0	0	0	0	0	0	0	1	5223	767	27	1		1	EPS8L1	19	55589480	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45748	55589480	3539503	19072	21218											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540810.1_De_novo_Start_InFrame|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000586329.1_Nonsense_Mutation_p.C27*	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													33	172					1.62565e-12	1.74646e-12	1	1	0	A	55591075	C	A	55591075	4	1	22	1	0	0	0	0	0	1	0	0	5223	747	26	2	149	2	EPS8L1	19	55591075	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1595	55591075	3537908	19073	21219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376393.2_Missense_Mutation_p.K406E|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.K332E	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													129	545					0	0	1	0	0	C	55607246	T	C	55607246	3	2	22	1	0	0	0	0	1	0	0	0	12405	1763	61	3	1188	3	PPP1R12C	19	55607246	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16171	55607246	3521737	19074	21220											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376393.2_Missense_Mutation_p.R190Q|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R116Q	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													33	118					0	0	1	0	0	T	55623837	C	T	55623837	3	4	22	1	0	0	0	0	1	0	0	0	12405	884	31	1	1859	1	PPP1R12C	19	55623837	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16591	55623837	3505146	19075	21221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	198					4.33383e-22	4.89722e-22	1	1	0	A	55663256	C	A	55663256	3	1	22	1	0	0	0	0	1	0	0	0	16388	912	32	2	57	2	TNNI3	19	55663256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39419	55663256	3465727	19076	21222	143	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	192					0	0	1	0	0	A	55663261	G	A	55663261	3	1	22	1	0	0	0	0	1	0	0	0	16388	1087	38	1	62	1	TNNI3	19	55663261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	55663261	3465722	19077	21223	143	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	464					1.43872e-54	1.79623e-54	1	1	0	A	55665401	C	A	55665401	3	1	22	1	0	0	0	0	1	0	0	0	16388	912	32	2	94	2	TNNI3	19	55665401	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2140	55665401	3463582	19078	21224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-2587H24.4_ENST00000587871.1_3'UTR|TNNI3_ENST00000590463.1_5'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													172	709					0	0	1	0	0	T	55668952	C	T	55668952	2	4	22	1	0	0	0	0	0	0	0	1	16388	639	23	1		1	TNNI3	19	55668952	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3551	55668952	3460031	19079	21225											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537500.1_Missense_Mutation_p.A178T|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.A175T	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													66	373					0	0	1	0	0	T	55687085	C	T	55687085	3	4	22	1	0	0	0	0	1	0	0	0	15534	768	27	1	648	1	SYT5	19	55687085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18133	55687085	3441898	19080	21226											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537500.1_Missense_Mutation_p.R157Q|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.R154Q	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													47	423					0	0	1	0	0	T	55687147	C	T	55687147	3	4	22	1	0	0	0	0	1	0	0	0	15534	652	23	1	710	1	SYT5	19	55687147	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62	55687147	3441836	19081	21227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537500.1_Missense_Mutation_p.V36M|SYT5_ENST00000590851.1_Intron	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													18	88					0	0	1	0	0	T	55689710	C	T	55689710	3	4	22	1	0	0	0	0	1	0	0	0	15534	536	19	1	1082	1	SYT5	19	55689710	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2563	55689710	3439273	19082	21228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	192					0	0	1	0	0	T	55696921	C	T	55696921	3	4	22	1	0	0	0	0	1	0	0	0	12855	652	23	1	348	1	PTPRH	19	55696921	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7211	55696921	3432062	19083	21229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.T478T	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													37	165					0	0	1	0	0	T	55708507	C	T	55708507	2	4	22	1	0	0	0	0	0	0	0	1	12855	755	27	1		1	PTPRH	19	55708507	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11586	55708507	3420476	19084	21230											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.D392N	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													19	367					0	0	1	0	0	T	55708767	C	T	55708767	3	4	22	1	0	0	0	0	1	0	0	0	12855	913	32	2	1687	2	PTPRH	19	55708767	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	260	55708767	3420216	19085	21231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.A136T	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													62	341					0	0	1	0	0	T	55713637	C	T	55713637	3	4	22	1	0	0	0	0	1	0	0	0	12855	768	27	1	2467	1	PTPRH	19	55713637	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4870	55713637	3415346	19086	21232											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433386.2_Missense_Mutation_p.R282Q|HSPBP1_ENST00000376343.3_Intron|HSPBP1_ENST00000587922.1_Missense_Mutation_p.R282Q	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													7	80					0	0	1	0	0	T	55777302	C	T	55777302	3	4	22	1	0	0	0	0	1	0	0	0	7470	652	23	1	246	1	HSPBP1	19	55777302	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63665	55777302	3351681	19087	21233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	152					0	0	1	0	0	T	55805718	C	T	55805718	3	4	22	1	0	0	0	0	1	0	0	0	1525	643	23	1	657	1	BRSK1	19	55805718	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28416	55805718	3323265	19088	21234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*			A6NC51	T150B_HUMAN	transmembrane protein 150B	209						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						CACACAGGGTGCAGCTCTCCA	0.692													24	93					2.32416e-17	2.56562e-17	1	1	0	T	55824302	G	T	55824302	4	4	22	1	0	0	0	0	0	1	0	0	16128	1311	46	2	78	2	TMEM150B	19	55824302	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18584	55824302	3304681	19089	21235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC020922.1_ENST00000539076.1_5'UTR|SUV420H2_ENST00000402499.4_3'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													110	497					5.13333e-58	6.43346e-58	1	1	0	T	55853326	G	T	55853326	3	4	22	1	0	0	0	0	1	0	0	0	15471	971	34	2	24	2	SUV420H2	19	55853326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29024	55853326	3275657	19090	21236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	337					3.25985e-27	3.7718e-27	1	1	0	A	55857588	C	A	55857588	3	1	22	1	0	0	0	0	1	0	0	0	15471	681	24	2	600	2	SUV420H2	19	55857588	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4262	55857588	3271395	19091	21237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000560055.1_Intron|RPL28_ENST00000458349.2_Intron|RPL28_ENST00000558131.1_3'UTR|RPL28_ENST00000560583.1_3'UTR|RPL28_ENST00000559463.1_Missense_Mutation_p.R112H|RPL28_ENST00000558815.1_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													11	48					0	0	1	0	0	A	55899621	G	A	55899621	3	1	22	1	0	0	0	0	1	0	0	0	13629	1087	38	1	585	1	RPL28	19	55899621	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42033	55899621	3229362	19092	21238											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	98					0	0	1	0	0	A	55913000	G	A	55913000	3	1	22	1	0	0	0	0	1	0	0	0	16933	1203	42	2	199	2	UBE2S	19	55913000	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13379	55913000	3215983	19093	21239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	107					0	0	1	0	0	A	55964733	G	A	55964733	3	1	22	1	0	0	0	0	1	0	0	0	7907	1232	43	2	61	2	ISOC2	19	55964733	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51733	55964733	3164250	19094	21240											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55992598C>T	ENST00000598519.1	+	3	591	c.38C>T	c.(37-39)gCg>gTg	p.A13V	ZNF628_ENST00000391718.2_Missense_Mutation_p.A9V	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													13	39					0	0	1	0	0	T	55992598	C	T	55992598	3	4	22	1	0	0	0	0	1	0	0	0	18109	768	27	1	28	1	ZNF628	19	55992598	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27865	55992598	3136385	19095	21241											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55992868G>A	ENST00000598519.1	+	3	861	c.308G>A	c.(307-309)cGc>cAc	p.R103H	ZNF628_ENST00000391718.2_Missense_Mutation_p.R99H	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													7	191					0	0	1	0	0	A	55992868	G	A	55992868	3	1	22	1	0	0	0	0	1	0	0	0	18109	1087	38	1	298	1	ZNF628	19	55992868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270	55992868	3136115	19096	21242											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55993021C>A	ENST00000598519.1	+	3	1014	c.461C>A	c.(460-462)cCc>cAc	p.P154H	ZNF628_ENST00000391718.2_Missense_Mutation_p.P150H	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													31	184					3.80469e-20	4.25708e-20	1	1	0	A	55993021	C	A	55993021	3	1	22	1	0	0	0	0	1	0	0	0	18109	623	22	2	451	2	ZNF628	19	55993021	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153	55993021	3135962	19097	21243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55994231C>T	ENST00000598519.1	+	3	2224	c.1671C>T	c.(1669-1671)cgC>cgT	p.R557R	ZNF628_ENST00000391718.2_Silent_p.R553R	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													44	187					0	0	1	0	0	T	55994231	C	T	55994231	2	4	22	1	0	0	0	0	0	0	0	1	18109	726	26	2		2	ZNF628	19	55994231	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1210	55994231	3134752	19098	21244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55994536G>A	ENST00000598519.1	+	3	2529	c.1976G>A	c.(1975-1977)gGc>gAc	p.G659D	ZNF628_ENST00000391718.2_Missense_Mutation_p.G655D	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													15	48					0	0	1	0	0	A	55994536	G	A	55994536	3	1	22	1	0	0	0	0	1	0	0	0	18109	1203	42	2	1966	2	ZNF628	19	55994536	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	305	55994536	3134447	19099	21245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995070C>T	ENST00000598519.1	+	3	3063	c.2510C>T	c.(2509-2511)gCg>gTg	p.A837V	ZNF628_ENST00000391718.2_Missense_Mutation_p.A833V	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													113	373					0	0	1	0	0	T	55995070	C	T	55995070	3	4	22	1	0	0	0	0	1	0	0	0	18109	768	27	1	2500	1	ZNF628	19	55995070	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534	55995070	3133913	19100	21246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995119G>A	ENST00000598519.1	+	3	3112	c.2559G>A	c.(2557-2559)acG>acA	p.T853T	ZNF628_ENST00000391718.2_Silent_p.T849T	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													78	278					0	0	1	0	0	A	55995119	G	A	55995119	2	1	22	1	0	0	0	0	0	0	0	1	18109	1103	39	1		1	ZNF628	19	55995119	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49	55995119	3133864	19101	21247	144	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995125G>A	ENST00000598519.1	+	3	3118	c.2565G>A	c.(2563-2565)caG>caA	p.Q855Q	ZNF628_ENST00000391718.2_Silent_p.Q851Q	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													74	250					0	0	1	0	0	A	55995125	G	A	55995125	2	1	22	1	0	0	0	0	0	0	0	1	18109	962	34	2		2	ZNF628	19	55995125	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6	55995125	3133858	19102	21248	144	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	148					0	0	1	0	0	A	56042645	G	A	56042645	2	1	22	1	0	0	0	0	0	0	0	1	13914	933	33	2		2	SBK2	19	56042645	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47520	56042645	3086338	19103	21249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	111					0	0	1	0	0	A	56104155	G	A	56104155	2	1	22	1	0	0	0	0	0	0	0	1	5933	1074	38	1		1	FIZ1	19	56104155	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61510	56104155	3024828	19104	21250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	370					0	0	1	0	0	A	56113511	G	A	56113511	2	1	22	1	0	0	0	0	0	0	0	1	18023	1074	38	1		1	ZNF524	19	56113511	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9356	56113511	3015472	19105	21251											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	110					0	0	1	0	0	A	56114114	G	A	56114114	2	1	22	1	0	0	0	0	0	0	0	1	18023	1074	38	1		1	ZNF524	19	56114114	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	603	56114114	3014869	19106	21252											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588740.1_Missense_Mutation_p.R78H|CCDC106_ENST00000591578.1_Missense_Mutation_p.R78H|CCDC106_ENST00000591241.1_Missense_Mutation_p.R43H|CCDC106_ENST00000308964.3_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													41	173					0	0	1	0	0	A	56160870	G	A	56160870	3	1	22	1	0	0	0	0	1	0	0	0	2759	1087	38	1	243	1	CCDC106	19	56160870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46756	56160870	2968113	19107	21253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588740.1_Missense_Mutation_p.E228A|CCDC106_ENST00000591578.1_Missense_Mutation_p.E228A|CCDC106_ENST00000591241.1_Missense_Mutation_p.E193A|CCDC106_ENST00000308964.3_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													84	357					0	0	1	0	0	C	56163952	A	C	56163952	3	2	22	1	0	0	0	0	1	0	0	0	2759	304	11	3	701	3	CCDC106	19	56163952	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3082	56163952	2965031	19108	21254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	336					0	0	1	0	0	C	56172411	T	C	56172411	2	2	22	1	0	0	0	0	0	0	0	1	16884	1654	58	3		3	U2AF2	19	56172411	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8459	56172411	2956572	19109	21255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000085079.7_Silent_p.P389P|EPN1_ENST00000270460.6_Silent_p.P415P	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													122	542					0	0	1	0	0	A	56204384	G	A	56204384	2	1	22	1	0	0	0	0	0	0	0	1	5213	1045	37	1		1	EPN1	19	56204384	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31973	56204384	2924599	19110	21256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000085079.7_Missense_Mutation_p.A433V|EPN1_ENST00000270460.6_Missense_Mutation_p.A459V	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													24	63					0	0	1	0	0	T	56206203	C	T	56206203	3	4	22	1	0	0	0	0	1	0	0	0	5213	739	26	2	1751	2	EPN1	19	56206203	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1819	56206203	2922780	19111	21257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360133.3_Missense_Mutation_p.A799D|NLRP11_ENST00000592953.1_Missense_Mutation_p.A754D|NLRP11_ENST00000589093.1_Missense_Mutation_p.A853D|NLRP11_ENST00000589824.2_Missense_Mutation_p.A799D	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													112	553					1.34498e-63	1.69814e-63	1	1	0	T	56300721	G	T	56300721	3	4	22	1	0	0	0	0	1	0	0	0	10520	1203	42	2	555	2	NLRP11	19	56300721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94518	56300721	2828262	19112	21258											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360133.3_Missense_Mutation_p.R445H|NLRP11_ENST00000592953.1_Missense_Mutation_p.R346H|NLRP11_ENST00000589093.1_Missense_Mutation_p.R445H|NLRP11_ENST00000589824.2_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													65	264					0	0	1	0	0	T	56320642	C	T	56320642	3	4	22	1	0	0	0	0	1	0	0	0	10520	536	19	1	1799	1	NLRP11	19	56320642	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19921	56320642	2808341	19113	21259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346986.5_Intron|NLRP4_ENST00000301295.6_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													35	190					0	0	1	0	0	A	56369008	G	A	56369008	4	1	22	1	0	0	0	0	0	1	0	0	10526	1247	43	2		2	NLRP4	19	56369008	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48366	56369008	2759975	19114	21260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	359					0	0	1	0	0	A	56407480	G	A	56407480	3	1	22	1	0	0	0	0	1	0	0	0	10522	1087	38	1	170	1	NLRP13	19	56407480	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38472	56407480	2721503	19115	21261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	352					0	0	1	0	0	G	56423641	A	G	56423641	2	3	22	1	0	0	0	0	0	0	0	1	10522	98	4	3		3	NLRP13	19	56423641	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16161	56423641	2705342	19116	21262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	323					0	0	1	0	0	T	56423953	C	T	56423953	2	4	22	1	0	0	0	0	0	0	0	1	10522	796	28	2		2	NLRP13	19	56423953	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	312	56423953	2705030	19117	21263											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	345					2.73361e-28	3.17826e-28	1	1	0	T	56466053	G	T	56466053	3	4	22	1	0	0	0	0	1	0	0	0	10530	1174	41	2	639	2	NLRP8	19	56466053	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42100	56466053	2662930	19118	21264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	446					0	0	1	0	0	C	56466774	A	C	56466774	3	2	22	1	0	0	0	0	1	0	0	0	10530	40	2	3	1360	3	NLRP8	19	56466774	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	721	56466774	2662209	19119	21265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	482					0	0	1	0	0	T	56477586	C	T	56477586	3	4	22	1	0	0	0	0	1	0	0	0	10530	768	27	1	2239	1	NLRP8	19	56477586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10812	56477586	2651397	19120	21266											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	198					0	0	1	0	0	A	56539009	G	A	56539009	2	1	22	1	0	0	0	0	0	0	0	1	10527	1306	46	2		2	NLRP5	19	56539009	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61423	56539009	2589974	19121	21267											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001002836.2	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													9	53					0	0	1	0	0	T	56600023	C	T	56600023	3	4	22	1	0	0	0	0	1	0	0	0	18208	797	28	2	637	2	ZNF787	19	56600023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61014	56600023	2528960	19122	21268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001002836.2	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													27	118					0	0	1	0	0	A	56600160	G	A	56600160	2	1	22	1	0	0	0	0	0	0	0	1	18208	1079	38	1		1	ZNF787	19	56600160	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137	56600160	2528823	19123	21269											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	32					0	0	1	0	0	T	56614364	C	T	56614364	3	4	22	1	0	0	0	0	1	0	0	0	18208	783	27	1		1	ZNF787	19	56614364	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14204	56614364	2514619	19124	21270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001002836.2	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													46	199					0	0	1	0	0	T	56614517	C	T	56614517	3	4	22	1	0	0	0	0	1	0	0	0	18208	893	31	1	1089	1	ZNF787	19	56614517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153	56614517	2514466	19125	21271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	59					0	0	1	0	0	T	56658505	C	T	56658505	2	4	22	1	0	0	0	0	0	0	0	1	17974	477	17	2		2	ZNF444	19	56658505	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43988	56658505	2470478	19126	21272											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	71					4.7546e-09	4.99022e-09	1	1	0	T	56704380	G	T	56704380	2	4	22	1	0	0	0	0	0	0	0	1	18279	987	35	2		2	ZSCAN5B	19	56704380	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45875	56704380	2424603	19127	21273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000291598.7_Missense_Mutation_p.G348R|ZNF583_ENST00000585612.1_3'UTR	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													69	312					0	0	1	0	0	A	56935069	G	A	56935069	3	1	22	1	0	0	0	0	1	0	0	0	18072	1001	35	2	1056	2	ZNF583	19	56935069	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230689	56935069	2193914	19128	21274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000291598.7_Missense_Mutation_p.N355T|ZNF583_ENST00000585612.1_3'UTR	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													80	319					0	0	1	0	0	C	56935091	A	C	56935091	3	2	22	1	0	0	0	0	1	0	0	0	18072	101	4	3	1078	3	ZNF583	19	56935091	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22	56935091	2193892	19129	21275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000291598.7_Missense_Mutation_p.S418N|ZNF583_ENST00000585612.1_Intron	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													42	264					0	0	1	0	0	A	56935280	G	A	56935280	3	1	22	1	0	0	0	0	1	0	0	0	18072	971	34	2	1267	2	ZNF583	19	56935280	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	189	56935280	2193703	19130	21276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000291598.7_Missense_Mutation_p.R484I|ZNF583_ENST00000585612.1_Intron	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													88	393					2.46799e-47	3.03728e-47	1	1	0	T	56935478	G	T	56935478	3	4	22	1	0	0	0	0	1	0	0	0	18072	942	33	2	1465	2	ZNF583	19	56935478	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	198	56935478	2193505	19131	21277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000292069.6_Missense_Mutation_p.R5Q|ZNF667_ENST00000342634.3_Missense_Mutation_p.R98Q|ZNF667_ENST00000504904.3_Missense_Mutation_p.R5Q			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													105	640					0	0	1	0	0	T	56973726	C	T	56973726	3	4	22	1	0	0	0	0	1	0	0	0	18131	652	23	1	1834	1	ZNF667	19	56973726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38248	56973726	2155257	19132	21278											
ZNF471	57573	broad.mit.edu	37	chr19	57036219	57036219	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acacatactggagagaaactCtttgaatgtaaagaatgtag	9	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57036219C>A	ENST00000591537.1	+	5	488	c.362C>A	c.(361-363)tCt>tAt	p.S121Y	ZNF471_ENST00000308031.5_Silent_p.L261L|ZNF471_ENST00000593197.1_Intron			Q9BX82	ZN471_HUMAN	zinc finger protein 471	129					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)		GAGAGAAACTCTTTGAATGTA	0.368													46	586					6.68952e-21	7.51162e-21	1	1	0	A	57036219	C	A	57036219	3	1	22	1	0	0	0	0	1	0	0	0	17987	900	32	2	797	2	ZNF471	19	57036219	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62493	57036219	2092764	19133	21279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000308031.5_Silent_p.I378I|ZNF471_ENST00000593197.1_Intron			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													114	506					0	0	1	0	0	C	57036570	T	C	57036570	3	2	22	1	0	0	0	0	1	0	0	0	17987	1800	63	3	1148	3	ZNF471	19	57036570	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	351	57036570	2092413	19134	21280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Missense_Mutation_p.W180C	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													26	145					8.24728e-16	9.03206e-16	1	1	0	T	57060343	G	T	57060343	3	4	22	1	0	0	0	0	1	0	0	0	17700	1183	41	2	558	2	ZFP28	19	57060343	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23773	57060343	2068640	19135	21281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	320					0	0	1	0	0	A	57088168	G	A	57088168	3	1	22	1	0	0	0	0	1	0	0	0	17986	942	33	2	385	2	ZNF470	19	57088168	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27825	57088168	2040815	19136	21282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	313					0	0	1	0	0	T	57088924	C	T	57088924	3	4	22	1	0	0	0	0	1	0	0	0	17986	797	28	2	1141	2	ZNF470	19	57088924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	756	57088924	2040059	19137	21283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	276					0	0	1	0	0	A	57089370	G	A	57089370	3	1	22	1	0	0	0	0	1	0	0	0	17986	1087	38	1	1587	1	ZNF470	19	57089370	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	446	57089370	2039613	19138	21284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	394					2.31682e-05	2.36778e-05	1	1	0	A	57089583	C	A	57089583	3	1	22	1	0	0	0	0	1	0	0	0	17986	913	32	2	1800	2	ZNF470	19	57089583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	213	57089583	2039400	19139	21285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	269					0	0	1	0	0	A	57133136	G	A	57133136	3	1	22	1	0	0	0	0	1	0	0	0	18170	1290	45	2	483	2	ZNF71	19	57133136	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43553	57133136	1995847	19140	21286											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	325					0	0	1	0	0	A	57133840	G	A	57133840	2	1	22	1	0	0	0	0	0	0	0	1	18170	1132	40	1		1	ZNF71	19	57133840	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	704	57133840	1995143	19141	21287											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	323					0	0	1	0	0	T	57133900	C	T	57133900	2	4	22	1	0	0	0	0	0	0	0	1	18170	776	27	1		1	ZNF71	19	57133900	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	57133900	1995083	19142	21288											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	326					0	0	1	0	0	T	57134102	C	T	57134102	3	4	22	1	0	0	0	0	1	0	0	0	18170	768	27	1	1449	1	ZNF71	19	57134102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202	57134102	1994881	19143	21289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													206	887					0	0	1	0	0	A	57175068	G	A	57175068	3	1	22	1	0	0	0	0	1	0	0	0	18233	1059	37	1	116	1	ZNF835	19	57175068	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40966	57175068	1953915	19144	21290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	502					0	0	1	0	0	A	57175214	G	A	57175214	2	1	22	1	0	0	0	0	0	0	0	1	18233	1079	38	1		1	ZNF835	19	57175214	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146	57175214	1953769	19145	21291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	107					0	0	1	0	0	A	57175556	G	A	57175556	2	1	22	1	0	0	0	0	0	0	0	1	18233	1190	42	2		2	ZNF835	19	57175556	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	342	57175556	1953427	19146	21292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	115					0	0	1	0	0	A	57175789	G	A	57175789	3	1	22	1	0	0	0	0	1	0	0	0	18233	1116	39	1	837	1	ZNF835	19	57175789	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	233	57175789	1953194	19147	21293											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	162					0	0	1	0	0	T	57175850	C	T	57175850	2	4	22	1	0	0	0	0	0	0	0	1	18233	796	28	2		2	ZNF835	19	57175850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61	57175850	1953133	19148	21294											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	295					0	0	1	0	0	A	57176450	G	A	57176450	2	1	22	1	0	0	0	0	0	0	0	1	18233	1103	39	1		1	ZNF835	19	57176450	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	600	57176450	1952533	19149	21295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	241					0	0	1	0	0	A	57176546	G	A	57176546	2	1	22	1	0	0	0	0	0	0	0	1	18233	1045	37	1		1	ZNF835	19	57176546	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96	57176546	1952437	19150	21296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000221722.5_Missense_Mutation_p.R464I|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.R464I|ZIM2_ENST00000593711.1_Missense_Mutation_p.R464I|ZIM2_ENST00000601070.1_Missense_Mutation_p.R464I	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													30	219					1.06801e-11	1.14091e-11	1	1	0	A	57286249	C	A	57286249	3	1	22	1	0	0	0	0	1	0	0	0	17742	913	32	2	196	2	ZIM2	19	57286249	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109703	57286249	1842734	19151	21297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000221722.5_Missense_Mutation_p.R456W|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.R456W|ZIM2_ENST00000593711.1_Missense_Mutation_p.R456W|ZIM2_ENST00000601070.1_Missense_Mutation_p.R456W	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													10	285					0	0	1	0	0	A	57286274	G	A	57286274	3	1	22	1	0	0	0	0	1	0	0	0	17742	1086	38	1	221	1	ZIM2	19	57286274	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25	57286274	1842709	19152	21298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000221722.5_Missense_Mutation_p.I314V|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.I314V|ZIM2_ENST00000593711.1_Missense_Mutation_p.I314V|ZIM2_ENST00000601070.1_Missense_Mutation_p.I314V	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													16	385					0	0	1	0	0	C	57286700	T	C	57286700	3	2	22	1	0	0	0	0	1	0	0	0	17742	1493	52	3	647	3	ZIM2	19	57286700	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	426	57286700	1842283	19153	21299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A1430D|PEG3_ENST00000423103.2_Missense_Mutation_p.A1556D|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A1432D	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													60	326					3.89483e-19	4.33865e-19	1	1	0	T	57325143	G	T	57325143	3	4	22	1	0	0	0	0	1	0	0	0	11767	1203	42	2	103	2	PEG3	19	57325143	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38443	57325143	1803840	19154	21300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A686V|PEG3_ENST00000423103.2_Missense_Mutation_p.A812V|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A688V	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													159	650					0	0	1	0	0	A	57327375	G	A	57327375	3	1	22	1	0	0	0	0	1	0	0	0	11767	971	34	2	2335	2	PEG3	19	57327375	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2232	57327375	1801608	19155	21301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A417T|PEG3_ENST00000423103.2_Missense_Mutation_p.A543T|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A419T	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													162	754					0	0	1	0	0	T	57328183	C	T	57328183	3	4	22	1	0	0	0	0	1	0	0	0	11767	797	28	2	3143	2	PEG3	19	57328183	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	808	57328183	1800800	19156	21302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.T314I|PEG3_ENST00000423103.2_Missense_Mutation_p.T440I|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.T316I	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													139	653					0	0	1	0	0	A	57328491	G	A	57328491	3	1	22	1	0	0	0	0	1	0	0	0	11767	1261	44	2	3451	2	PEG3	19	57328491	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	308	57328491	1800492	19157	21303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G248S|PEG3_ENST00000423103.2_Missense_Mutation_p.G374S|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G250S	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													117	536					0	0	1	0	0	T	57328690	C	T	57328690	3	4	22	1	0	0	0	0	1	0	0	0	11767	681	24	2	3650	2	PEG3	19	57328690	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199	57328690	1800293	19158	21304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZIM2_ENST00000221722.5_Missense_Mutation_p.A76V|ZIM2_ENST00000391708.3_Missense_Mutation_p.A76V|PEG3_ENST00000593695.1_Missense_Mutation_p.A75V|PEG3_ENST00000423103.2_Missense_Mutation_p.A201V|ZIM2_ENST00000599935.1_Missense_Mutation_p.A76V|ZIM2_ENST00000593711.1_Missense_Mutation_p.A76V|ZIM2_ENST00000601070.1_Missense_Mutation_p.A76V|PEG3_ENST00000598410.1_Missense_Mutation_p.A76V	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													158	655					0	0	1	0	0	A	57333086	G	A	57333086	3	1	22	1	0	0	0	0	1	0	0	0	11767	1087	38	1	4183	1	PEG3	19	57333086	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4396	57333086	1795897	19159	21305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	419					0	0	1	0	0	G	57646296	T	G	57646296	3	3	22	1	0	0	0	0	1	0	0	0	17743	1696	59	3	13	3	ZIM3	19	57646296	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	313210	57646296	1482687	19160	21306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	475					0	0	1	0	0	T	57646919	C	T	57646919	4	4	22	1	0	0	0	0	0	1	0	0	17743	856	30	2	636	2	ZIM3	19	57646919	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	623	57646919	1482064	19161	21307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	62					3.5997e-14	3.90403e-14	1	1	0	T	57716805	G	T	57716805	3	4	22	1	0	0	0	0	1	0	0	0	17862	962	34	2	211	2	ZNF264	19	57716805	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69886	57716805	1412178	19162	21308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	219					2.83923e-41	3.44832e-41	1	1	0	T	57722984	G	T	57722984	3	4	22	1	0	0	0	0	1	0	0	0	17862	991	35	2	533	2	ZNF264	19	57722984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6179	57722984	1405999	19163	21309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	258					0	0	1	0	0	A	57723439	G	A	57723439	3	1	22	1	0	0	0	0	1	0	0	0	17862	1058	37	1	988	1	ZNF264	19	57723439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	455	57723439	1405544	19164	21310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415300.2_Silent_p.L184L|AURKC_ENST00000599062.1_Silent_p.L200L|AURKC_ENST00000448930.1_Silent_p.L169L|AURKC_ENST00000598785.1_Silent_p.L169L	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													41	187					0	0	1	0	0	T	57746274	C	T	57746274	2	4	22	1	0	0	0	0	0	0	0	1	1222	564	20	2		2	AURKC	19	57746274	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22835	57746274	1382709	19165	21311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	292					2.71207e-19	3.02352e-19	1	1	0	A	57802170	C	A	57802170	4	1	22	1	0	0	0	0	0	1	0	0	17981	576	20	2	271	2	ZNF460	19	57802170	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55896	57802170	1326813	19166	21312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													138	578					1.61085e-67	2.04067e-67	1	1	0	A	57802419	C	A	57802419	2	1	22	1	0	0	0	0	0	0	0	1	17981	668	24	2		2	ZNF460	19	57802419	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249	57802419	1326564	19167	21313											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	232					2.9001e-28	3.37151e-28	1	1	0	T	57839196	G	T	57839196	3	4	22	1	0	0	0	0	1	0	0	0	18033	991	35	2	380	2	ZNF543	19	57839196	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36777	57839196	1289787	19168	21314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	243					0	0	1	0	0	A	57840074	G	A	57840074	3	1	22	1	0	0	0	0	1	0	0	0	18033	1116	39	1	1258	1	ZNF543	19	57840074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	878	57840074	1288909	19169	21315											
ZNF543	125919	broad.mit.edu	37	chr19	57840153	57840154	+	Frame_Shift_Ins	INS	-	-	A													gctccacttttgtcttgcatINSaaaaggacccacacaggaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57840153_57840154insA	ENST00000321545.4	+	4	1668_1669	c.1323_1324insA	c.(1321-1326)caaaagfs	p.QK441fs		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	441					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)		TTGTCTTGCATAAAAGGACCCA	0.48													51	268	---	---	---	---						A	57840154	-	A	57840153	7	5	22	1	0	1	1	0	0	0	0	0	18033	1403	49	0	1337	0	ZNF543	19	57840153	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	79	57840153	1288830	19170	21316											
ZNF304	57343	broad.mit.edu	37	chr19	57867399	57867399	+	Splice_Site	DEL	T	T	-													agctcttttttgctttcaggTttttggtgtgaagcagaaca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57867399delT	ENST00000391705.3	+	4	446	c.160_splice	c.e4-1	p.G54_splice	ZNF304_ENST00000443917.2_Splice_Site_p.G101_splice|ZNF304_ENST00000598744.1_Splice_Site_p.G12_splice|ZNF304_ENST00000282286.5_Splice_Site_p.G54_splice	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	54	KRAB.				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)		TGCTTTCAGGTTTTTGGTGTG	0.507													8	635	---	---	---	---						-	57867399	T	-	57867399	8	5	22	1	0	1	0	1	0	0	1	0	17890	1739	60	0	172	0	ZNF304	19	57867399	Splice_Site	DEL	T	TCGA-IB-7651-01A-11D-2154-08	27246	57867399	1261584	19171	21317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	325					2.2129e-31	2.60483e-31	1	1	0	A	57868033	C	A	57868033	3	1	22	1	0	0	0	0	1	0	0	0	17890	913	32	2	806	2	ZNF304	19	57868033	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	634	57868033	1260950	19172	21318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	252					0	0	1	0	0	T	57868238	C	T	57868238	3	4	22	1	0	0	0	0	1	0	0	0	17890	913	32	2	1011	2	ZNF304	19	57868238	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	205	57868238	1260745	19173	21319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	402					0	0	1	0	0	C	57868604	T	C	57868604	3	2	22	1	0	0	0	0	1	0	0	0	17890	1841	64	3	1377	3	ZNF304	19	57868604	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	366	57868604	1260379	19174	21320											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF548_ENST00000336128.7_Missense_Mutation_p.T84A|AC003002.6_ENST00000600421.1_Intron|AC003002.4_ENST00000597658.1_Missense_Mutation_p.75_75insA|ZNF548_ENST00000597400.1_3'UTR|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron	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													63	335					0	0	1	0	0	G	57909869	A	G	57909869	3	3	22	1	0	0	0	0	1	0	0	0	18037	391	14	3	264	3	ZNF548	19	57909869	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41265	57909869	1219114	19175	21321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF548_ENST00000336128.7_Missense_Mutation_p.W190L|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_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													30	274					8.58068e-18	9.49213e-18	1	1	0	T	57910188	G	T	57910188	3	4	22	1	0	0	0	0	1	0	0	0	18037	1357	47	2	583	2	ZNF548	19	57910188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	319	57910188	1218795	19176	21322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF548_ENST00000336128.7_Missense_Mutation_p.A250T|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_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													49	199					0	0	1	0	0	A	57910367	G	A	57910367	3	1	22	1	0	0	0	0	1	0	0	0	18037	1319	46	2	762	2	ZNF548	19	57910367	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	179	57910367	1218616	19177	21323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF17_ENST00000595206.1_Intron|ZNF17_ENST00000601808.1_Silent_p.S34S|AC004076.7_ENST00000597410.1_Intron|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													96	827					0	0	1	0	0	T	57929366	C	T	57929366	2	4	22	1	0	0	0	0	0	0	0	1	17801	767	27	1		1	ZNF17	19	57929366	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18999	57929366	1199617	19178	21324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	180					0	0	1	0	0	A	57954768	G	A	57954768	2	1	22	1	0	0	0	0	0	0	0	1	18181	962	34	2		2	ZNF749	19	57954768	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25402	57954768	1174215	19179	21325											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	208					5.82388e-19	6.47979e-19	1	1	0	A	57954793	C	A	57954793	3	1	22	1	0	0	0	0	1	0	0	0	18181	912	32	2	287	2	ZNF749	19	57954793	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25	57954793	1174190	19180	21326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	222					0	0	1	0	0	T	57955243	C	T	57955243	4	4	22	1	0	0	0	0	0	1	0	0	18181	827	29	2	737	2	ZNF749	19	57955243	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	450	57955243	1173740	19181	21327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	408					0	0	1	0	0	G	57955694	A	G	57955694	3	3	22	1	0	0	0	0	1	0	0	0	18181	159	6	3	1188	3	ZNF749	19	57955694	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	451	57955694	1173289	19182	21328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	405					2.43516e-34	2.89639e-34	1	1	0	A	57956765	C	A	57956765	3	1	22	1	0	0	0	0	1	0	0	0	18181	913	32	2	2259	2	ZNF749	19	57956765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1071	57956765	1172218	19183	21329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	378					0	0	1	0	0	C	57956804	A	C	57956804	3	2	22	1	0	0	0	0	1	0	0	0	18181	43	2	3	2298	3	ZNF749	19	57956804	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39	57956804	1172179	19184	21330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000425074.3_Intron|ZNF772_ENST00000427512.2_Intron|AC004076.9_ENST00000596831.1_Missense_Mutation_p.E58D|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.E58D	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													98	562					5.34484e-38	6.43097e-38	1	1	0	A	57987053	C	A	57987053	3	1	22	1	0	0	0	0	1	0	0	0	18194	912	32	2	1307	2	ZNF772	19	57987053	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30249	57987053	1141930	19185	21331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000221735.7_Missense_Mutation_p.E276K|ZNF419_ENST00000442920.2_Missense_Mutation_p.E263K|ZNF419_ENST00000354197.4_Missense_Mutation_p.E264K|ZNF419_ENST00000426954.2_Missense_Mutation_p.E264K|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000347466.6_Missense_Mutation_p.E244K|ZNF419_ENST00000415379.2_Missense_Mutation_p.E230K	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													71	402					0	0	1	0	0	A	58004751	G	A	58004751	3	1	22	1	0	0	0	0	1	0	0	0	17953	1291	45	2	847	2	ZNF419	19	58004751	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17698	58004751	1124232	19186	21332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000221735.7_Missense_Mutation_p.G293E|ZNF419_ENST00000442920.2_Missense_Mutation_p.G280E|ZNF419_ENST00000354197.4_Missense_Mutation_p.G281E|ZNF419_ENST00000426954.2_Missense_Mutation_p.G281E|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000347466.6_Missense_Mutation_p.G261E|ZNF419_ENST00000415379.2_Missense_Mutation_p.G247E	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													88	387					0	0	1	0	0	A	58004803	G	A	58004803	3	1	22	1	0	0	0	0	1	0	0	0	17953	1174	41	2	899	2	ZNF419	19	58004803	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52	58004803	1124180	19187	21333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_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													54	247					0	0	1	0	0	A	58018058	G	A	58018058	3	1	22	1	0	0	0	0	1	0	0	0	18195	971	34	2	609	2	ZNF773	19	58018058	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13255	58018058	1110925	19188	21334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_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													91	337					0	0	1	0	0	A	58018743	G	A	58018743	3	1	22	1	0	0	0	0	1	0	0	0	18195	971	34	2	1294	2	ZNF773	19	58018743	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	685	58018743	1110240	19189	21335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Nonsense_Mutation_p.E63*|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224.1	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													93	393					1.69331e-39	2.04788e-39	1	1	0	T	58048598	G	T	58048598	4	4	22	1	0	0	0	0	0	1	0	0	18038	1175	41	2	197	2	ZNF549	19	58048598	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29855	58048598	1080385	19190	21336											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Nonsense_Mutation_p.E238*|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224.1	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													100	442					3.39216e-54	4.23318e-54	1	1	0	T	58049123	G	T	58049123	4	4	22	1	0	0	0	0	0	1	0	0	18038	1175	41	2	722	2	ZNF549	19	58049123	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	525	58049123	1079860	19191	21337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000457177.1_Silent_p.S272S|ZNF550_ENST00000506609.2_Silent_p.S231S			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													69	259					0	0	1	0	0	T	58058796	C	T	58058796	2	4	22	1	0	0	0	0	0	0	0	1	18039	523	19	1		1	ZNF550	19	58058796	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9673	58058796	1070187	19192	21338											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000457177.1_Missense_Mutation_p.Q88H|ZNF550_ENST00000506609.2_Missense_Mutation_p.Q47H			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													111	523					0	0	1	0	0	G	58059348	T	G	58059348	3	3	22	1	0	0	0	0	1	0	0	0	18039	1606	56	3	1008	3	ZNF550	19	58059348	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	552	58059348	1069635	19193	21339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													135	693					0	0	1	0	0	C	58083494	A	C	58083494	3	2	22	1	0	0	0	0	1	0	0	0	17950	101	4	3	10	3	ZNF416	19	58083494	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24146	58083494	1045489	19194	21340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536878.2_Missense_Mutation_p.R138K|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.R96K	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													58	280					0	0	1	0	0	A	58101631	G	A	58101631	3	1	22	1	0	0	0	0	1	0	0	0	17741	942	33	2	466	2	ZIK1	19	58101631	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18137	58101631	1027352	19195	21341											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	335					0	0	1	0	0	T	58117676	C	T	58117676	2	4	22	1	0	0	0	0	0	0	0	1	18028	535	19	1		1	ZNF530	19	58117676	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16045	58117676	1011307	19196	21342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	222					0	0	1	0	0	G	58132057	A	G	58132057	2	3	22	1	0	0	0	0	0	0	0	1	17782	146	6	3		3	ZNF134	19	58132057	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14381	58132057	996926	19197	21343											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000299871.5_Silent_p.E275E|ZNF211_ENST00000347302.3_Silent_p.E210E|ZNF211_ENST00000541801.1_Silent_p.E201E|ZNF211_ENST00000420680.1_Silent_p.E214E|ZNF211_ENST00000240731.4_Silent_p.E223E|ZNF211_ENST00000391703.3_Silent_p.E149E|ZNF211_ENST00000254182.7_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													56	227					0	0	1	0	0	A	58152484	G	A	58152484	2	1	22	1	0	0	0	0	0	0	0	1	17825	933	33	2		2	ZNF211	19	58152484	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20427	58152484	976499	19198	21344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	239					0	0	1	0	0	A	58189722	G	A	58189722	3	1	22	1	0	0	0	0	1	0	0	0	18277	1319	46	2	761	2	ZSCAN4	19	58189722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37238	58189722	939261	19199	21345											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													140	650					5.13159e-70	6.51657e-70	1	1	0	T	58190148	G	T	58190148	4	4	22	1	0	0	0	0	0	1	0	0	18277	943	33	2	1187	2	ZSCAN4	19	58190148	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	426	58190148	938835	19200	21346											
ZNF551	90233	broad.mit.edu	37	chr19	58198782	58198782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaagctctagcctttttcGacaccagagagttcactctg	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58198782G>A	ENST00000282296.5	+	3	1324	c.1139G>A	c.(1138-1140)cGa>cAa	p.R380Q	AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.R364Q|AC003006.7_ENST00000596085.1_Intron	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	380					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)		AGCCTTTTTCGACACCAGAGA	0.438													77	368					0	0	1	0	0	A	58198782	G	A	58198782	3	1	22	1	0	0	0	0	1	0	0	0	18040	1058	37	1	1101	1	ZNF551	19	58198782	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8634	58198782	930201	19201	21347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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													112	476					0	0	1	0	0	G	58232036	T	G	58232036	3	3	22	1	0	0	0	0	1	0	0	0	18135	1696	59	3	190	3	ZNF671	19	58232036	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33254	58232036	896947	19202	21348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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													92	387					0	0	1	0	0	T	58232204	C	T	58232204	3	4	22	1	0	0	0	0	1	0	0	0	18135	884	31	1	358	1	ZNF671	19	58232204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168	58232204	896779	19203	21349											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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													7	396					0	0	1	0	0	A	58232254	G	A	58232254	2	1	22	1	0	0	0	0	0	0	0	1	18135	1078	38	1		1	ZNF671	19	58232254	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50	58232254	896729	19204	21350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000596939.1_Missense_Mutation_p.A45T|ZNF671_ENST00000335820.3_5'UTR|ZNF671_ENST00000594803.1_5'UTR	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													36	125					0	0	1	0	0	T	58238764	C	T	58238764	3	4	22	1	0	0	0	0	1	0	0	0	18135	768	27	1	1487	1	ZNF671	19	58238764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6510	58238764	890219	19205	21351											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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													71	375					0	0	1	0	0	A	58262226	G	A	58262226	3	1	22	1	0	0	0	0	1	0	0	0	18198	942	33	2	113	2	ZNF776	19	58262226	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23462	58262226	866757	19206	21352											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000598183.1_Intron|ZNF586_ENST00000396154.2_Silent_p.R197R|ZNF586_ENST00000391702.3_Silent_p.R154R|ZNF586_ENST00000598885.1_Intron	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													93	452					0	0	1	0	0	A	58290546	G	A	58290546	3	1	22	1	0	0	0	0	1	0	0	0	18076	1165	41	2	601	2	ZNF586	19	58290546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28320	58290546	838437	19207	21353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	529					1.39345e-63	1.75924e-63	1	1	0	A	58320176	C	A	58320176	3	1	22	1	0	0	0	0	1	0	0	0	18041	680	24	2	771	2	ZNF552	19	58320176	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29630	58320176	808807	19208	21354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF417_ENST00000536263.1_Silent_p.G215G|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Silent_p.G413G	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													117	439					0	0	1	0	0	T	58420404	C	T	58420404	2	4	22	1	0	0	0	0	0	0	0	1	17951	842	30	2		2	ZNF417	19	58420404	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100228	58420404	708579	19209	21355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF417_ENST00000536263.1_5'UTR|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.A189T	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													207	940					0	0	1	0	0	T	58421078	C	T	58421078	3	4	22	1	0	0	0	0	1	0	0	0	17951	797	28	2	1163	2	ZNF417	19	58421078	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	674	58421078	707905	19210	21356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	374					0	0	1	0	0	T	58423469	C	T	58423469	1	4	22	1	0	0	0	0	0	0	0	0	17951	536	19	1		1	ZNF417	19	58423469	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2391	58423469	705514	19211	21357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	348					5.99346e-17	6.60109e-17	1	1	0	A	58452630	C	A	58452630	4	1	22	1	0	0	0	0	0	1	0	0	17857	922	32	2	341	2	ZNF256	19	58452630	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29161	58452630	676353	19212	21358											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	124					2.23348e-06	2.30073e-06	1	1	0	A	58470038	C	A	58470038	4	1	22	1	0	0	0	0	0	1	0	0	1922	922	32	2	71	2	C19orf18	19	58470038	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17408	58470038	658945	19213	21359											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	111					0	0	1	0	0	G	58477896	A	G	58477896	5	3	22	1	0	0	0	0	0	0	1	0	1922	405	14	3	286	3	C19orf18	19	58477896	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7858	58477896	651087	19214	21360											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	427					0	0	1	0	0	C	58490209	T	C	58490209	2	2	22	1	0	0	0	0	0	0	0	1	18089	1722	60	3		3	ZNF606	19	58490209	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12313	58490209	638774	19215	21361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	278					4.08182e-41	4.95533e-41	1	1	0	T	58490360	G	T	58490360	3	4	22	1	0	0	0	0	1	0	0	0	18089	942	33	2	694	2	ZNF606	19	58490360	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	151	58490360	638623	19216	21362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	399					0	0	1	0	0	G	58490962	A	G	58490962	2	3	22	1	0	0	0	0	0	0	0	1	18089	330	12	3		3	ZNF606	19	58490962	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	602	58490962	638021	19217	21363											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													199	927					0	0	1	0	0	T	58500015	C	T	58500015	2	4	22	1	0	0	0	0	0	0	0	1	18089	854	30	2		2	ZNF606	19	58500015	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9053	58500015	628968	19218	21364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	898					0	0	1	0	0	G	58551856	A	G	58551856	3	3	22	1	0	0	0	0	1	0	0	0	18268	304	11	3	415	3	ZSCAN1	19	58551856	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51841	58551856	577127	19219	21365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	363					0	0	1	0	0	T	58565026	C	T	58565026	2	4	22	1	0	0	0	0	0	0	0	1	18268	697	25	2		2	ZSCAN1	19	58565026	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13170	58565026	563957	19220	21366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000511556.1_Nonsense_Mutation_p.R358*|ZNF135_ENST00000313434.5_Nonsense_Mutation_p.R346*|ZNF135_ENST00000439855.2_Nonsense_Mutation_p.R346*|ZNF135_ENST00000359978.6_Nonsense_Mutation_p.R358*|ZNF135_ENST00000401053.4_Nonsense_Mutation_p.R370*			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													45	212					0	0	1	0	0	T	58578888	C	T	58578888	4	4	22	1	0	0	0	0	0	1	0	0	17783	760	27	1	1239	1	ZNF135	19	58578888	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13862	58578888	550095	19221	21367											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000511556.1_Missense_Mutation_p.D650E|ZNF135_ENST00000313434.5_Missense_Mutation_p.D638E|ZNF135_ENST00000439855.2_Missense_Mutation_p.D638E|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000401053.4_Missense_Mutation_p.D662E			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													82	320					1.04643e-32	1.23697e-32	1	1	0	A	58579766	C	A	58579766	3	1	22	1	0	0	0	0	1	0	0	0	17783	564	20	2	2117	2	ZNF135	19	58579766	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	878	58579766	549217	19222	21368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000601144.1_Silent_p.S319S|ZSCAN18_ENST00000421612.2_Silent_p.S183S|ZSCAN18_ENST00000600404.1_Silent_p.S375S	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													16	154					0	0	1	0	0	T	58596628	C	T	58596628	2	4	22	1	0	0	0	0	0	0	0	1	18271	639	23	1		1	ZSCAN18	19	58596628	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16862	58596628	532355	19223	21369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	519					6.51881e-58	8.16781e-58	1	1	0	T	58639295	G	T	58639295	3	4	22	1	0	0	0	0	1	0	0	0	17904	1000	35	2	53	2	ZNF329	19	58639295	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42667	58639295	489688	19224	21370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													127	467					0	0	1	0	0	G	58639933	T	G	58639933	3	3	22	1	0	0	0	0	1	0	0	0	17904	1841	64	3	691	3	ZNF329	19	58639933	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	638	58639933	489050	19225	21371											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	571					0	0	1	0	0	C	58640736	T	C	58640736	2	2	22	1	0	0	0	0	0	0	0	1	17904	1654	58	3		3	ZNF329	19	58640736	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	803	58640736	488247	19226	21372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424679.2_Silent_p.L107L|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.L180L	NM_133502.1	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													17	95					0	0	1	0	0	A	58718468	G	A	58718468	2	1	22	1	0	0	0	0	0	0	0	1	17867	1319	46	2		2	ZNF274	19	58718468	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77732	58718468	410515	19227	21373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.L361I|ZNF274_ENST00000424679.2_Missense_Mutation_p.L288I	NM_133502.1	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													48	200					1.21353e-23	1.38083e-23	1	1	0	A	58723727	C	A	58723727	3	1	22	1	0	0	0	0	1	0	0	0	17867	681	24	2	1205	2	ZNF274	19	58723727	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5259	58723727	405256	19228	21374											
ZNF544	27300	broad.mit.edu	37	chr19	58757770	58757770	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgagaggtgacactggagaCctgggagcatattgtctccc	13	11	1	3	rs150558952	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58757770C>A	ENST00000599953.1	+	0	96				ZNF544_ENST00000599227.1_Missense_Mutation_p.T46N|ZNF544_ENST00000596825.1_Missense_Mutation_p.T46N|ZNF544_ENST00000269829.4_Missense_Mutation_p.T46N|ZNF544_ENST00000333581.5_Missense_Mutation_p.T46N|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.T46N|ZNF544_ENST00000594384.1_Missense_Mutation_p.T46N|ZNF544_ENST00000596597.1_3'UTR|ZNF544_ENST00000415203.2_Missense_Mutation_p.T46N|ZNF544_ENST00000596929.1_Missense_Mutation_p.T46N|ZNF544_ENST00000600044.1_Missense_Mutation_p.T46N|ZNF544_ENST00000595981.1_Missense_Mutation_p.T46N|ZNF544_ENST00000596652.1_Missense_Mutation_p.T46N			Q6NX49	ZN544_HUMAN	zinc finger protein 544						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)		ACACTGGAGACCTGGGAGCAT	0.552													88	455					1.13027e-35	1.35034e-35	1	1	0	A	58757770	C	A	58757770	1	1	22	1	0	0	0	0	0	0	0	0	18034	507	18	2		2	ZNF544	19	58757770	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34043	58757770	371213	19229	21375											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF544_ENST00000599227.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.L340I|ZNF544_ENST00000415203.2_Missense_Mutation_p.L340I|ZNF544_ENST00000599953.1_Missense_Mutation_p.L226I|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.L340I|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596652.1_Missense_Mutation_p.L368I	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													57	294					2.30037e-20	2.57709e-20	1	1	0	A	58773074	C	A	58773074	3	1	22	1	0	0	0	0	1	0	0	0	18034	797	28	2	1116	2	ZNF544	19	58773074	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15304	58773074	355909	19230	21376											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF544_ENST00000599227.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.T485A|ZNF544_ENST00000415203.2_Missense_Mutation_p.T485A|ZNF544_ENST00000599953.1_Missense_Mutation_p.T371A|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.T485A|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596652.1_Missense_Mutation_p.T513A	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													79	322					0	0	1	0	0	G	58773509	A	G	58773509	3	3	22	1	0	0	0	0	1	0	0	0	18034	275	10	3	1551	3	ZNF544	19	58773509	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	435	58773509	355474	19231	21377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	392					0	0	1	0	0	T	58850414	C	T	58850414	3	4	22	1	0	0	0	0	1	0	0	0	18275	768	27	1	1204	1	ZSCAN22	19	58850414	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76905	58850414	278569	19232	21378											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600686.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_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													25	83					0	0	1	0	0	A	58864689	G	A	58864689	2	1	22	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	19233	21379											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600686.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_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													12	81					0	0	1	0	0	T	58864788	C	T	58864788	3	4	22	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	19234	21380											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	59					0	0	1	0	0	A	58867645	G	A	58867645	3	1	22	1	0	0	0	0	1	0	0	0	18003	1087	38	1	143	1	ZNF497	19	58867645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2857	58867645	261338	19235	21381											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	44					0	0	1	0	0	T	58868179	C	T	58868179	3	4	22	1	0	0	0	0	1	0	0	0	18003	768	27	1	677	1	ZNF497	19	58868179	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534	58868179	260804	19236	21382											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	243					0	0	1	0	0	A	58945235	G	A	58945235	3	1	22	1	0	0	0	0	1	0	0	0	17780	1116	39	1	548	1	ZNF132	19	58945235	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77056	58945235	183748	19237	21383											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	383					0	0	1	0	0	A	58945596	G	A	58945596	2	1	22	1	0	0	0	0	0	0	0	1	17780	1311	46	2		2	ZNF132	19	58945596	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	361	58945596	183387	19238	21384											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	299					0	0	1	0	0	A	58983274	G	A	58983274	3	1	22	1	0	0	0	0	1	0	0	0	17901	1116	39	1	1425	1	ZNF324	19	58983274	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37678	58983274	145709	19239	21385											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	238					7.05121e-23	7.99584e-23	1	1	0	A	59011712	C	A	59011712	3	1	22	1	0	0	0	0	1	0	0	0	14584	681	24	2	630	2	SLC27A5	19	59011712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28438	59011712	117271	19240	21386											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	509					0	0	1	0	0	T	59012709	C	T	59012709	3	4	22	1	0	0	0	0	1	0	0	0	14584	536	19	1	974	1	SLC27A5	19	59012709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	997	59012709	116274	19241	21387											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600990.1_Silent_p.E399E|ZBTB45_ENST00000354590.3_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													6	208					0	0	1	0	0	T	59027844	C	T	59027844	2	4	22	1	0	0	0	0	0	0	0	1	17605	796	28	2		2	ZBTB45	19	59027844	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15135	59027844	101139	19242	21388											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600990.1_Missense_Mutation_p.P392L|ZBTB45_ENST00000354590.3_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													30	146					0	0	1	0	0	A	59027866	G	A	59027866	3	1	22	1	0	0	0	0	1	0	0	0	17605	1000	35	2	368	2	ZBTB45	19	59027866	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22	59027866	101117	19243	21389											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600990.1_Missense_Mutation_p.Q309H|ZBTB45_ENST00000354590.3_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													59	244					6.60958e-23	7.49606e-23	1	1	0	A	59028114	C	A	59028114	3	1	22	1	0	0	0	0	1	0	0	0	17605	796	28	2	616	2	ZBTB45	19	59028114	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248	59028114	100869	19244	21390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000600990.1_Silent_p.S89S|ZBTB45_ENST00000354590.3_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)	103	342					0	0	1	0	0	A	59028774	G	A	59028774	2	1	22	1	0	0	0	0	0	0	0	1	17605	1078	38	1		1	ZBTB45	19	59028774	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	660	59028774	100209	19245	21391											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000312547.2_Missense_Mutation_p.A200T|CHMP2A_ENST00000601220.1_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													24	496					0	0	1	0	0	T	59063087	C	T	59063087	3	4	22	1	0	0	0	0	1	0	0	0	3376	739	26	2	74	2	CHMP2A	19	59063087	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34313	59063087	65896	19246	21392											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000312547.2_Silent_p.A21A|CHMP2A_ENST00000601220.1_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													134	703					0	0	1	0	0	A	59065517	G	A	59065517	2	1	22	1	0	0	0	0	0	0	0	1	3376	1219	43	2		2	CHMP2A	19	59065517	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2430	59065517	63466	19247	21393											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Silent_p.R729R|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_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													13	27					0	0	1	0	0	A	59073457	G	A	59073457	2	1	22	1	0	0	0	0	0	0	0	1	10156	1074	38	1		1	MZF1	19	59073457	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7940	59073457	55526	19248	21394											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000594234.1_Missense_Mutation_p.E30K|MZF1_ENST00000594108.1_Missense_Mutation_p.E30K|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.E30K	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													35	135					0	0	1	0	0	T	59082669	C	T	59082669	3	4	22	1	0	0	0	0	1	0	0	0	10156	864	30	2	2136	2	MZF1	19	59082669	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9212	59082669	46314	19249	21395											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													202	896					0	0	1	0	0	T	168663	C	T	168663	3	4	22	1	0	0	0	0	1	0	0	0	4441	623	22	2	139	2	DEFB128	20	168663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08		168663	62856857	19250	21396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	201					0	0	1	0	0	T	259966	C	T	259966	2	4	22	1	0	0	0	0	0	0	0	1	2136	755	27	1		1	C20orf96	20	259966	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91303	259966	62765554	19251	21397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	322					1.52009e-12	1.63397e-12	1	1	0	A	264666	C	A	264666	4	1	22	1	0	0	0	0	0	1	0	0	2136	922	32	2	879	2	C20orf96	20	264666	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4700	264666	62760854	19252	21398											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_149080.2	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													99	480					1.10825e-40	1.34457e-40	1	1	0	A	279106	C	A	279106	2	1	22	1	0	0	0	0	0	0	0	1	17647	903	32	2		2	ZCCHC3	20	279106	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14440	279106	62746414	19253	21399											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	191					0	0	1	0	0	T	372084	C	T	372084	4	4	22	1	0	0	0	0	0	1	0	0	16545	760	27	1	451	1	TRIB3	20	372084	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92978	372084	62653436	19254	21400											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000353660.3_Intron|RBCK1_ENST00000400247.3_Intron|RBCK1_ENST00000475269.1_Nonsense_Mutation_p.E9*|RBCK1_ENST00000382181.2_Intron|RBCK1_ENST00000400245.3_3'UTR	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													204	979					1.34617e-89	1.72753e-89	1	1	0	T	390527	G	T	390527	4	4	22	1	0	0	0	0	0	1	0	0	13159	943	33	2	50	2	RBCK1	20	390527	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18443	390527	62634993	19255	21401											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	54					0	0	1	0	0	T	400247	C	T	400247	3	4	22	1	0	0	0	0	1	0	0	0	13159	759	27	1	669	1	RBCK1	20	400247	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9720	400247	62625273	19256	21402											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	197					0	0	1	0	0	T	409726	C	T	409726	2	4	22	1	0	0	0	0	0	0	0	1	13159	784	28	2		2	RBCK1	20	409726	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9479	409726	62615794	19257	21403											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:478425C>A	ENST00000217244.3	-	7	742		c.e7-1		CSNK2A1_ENST00000400227.3_Splice_Site|CSNK2A1_ENST00000460062.1_Splice_Site|CSNK2A1_ENST00000349736.5_Splice_Site|CSNK2A1_ENST00000400217.1_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													37	199					4.14481e-20	4.63599e-20	1	1	0	A	478425	C	A	478425	5	1	22	1	0	0	0	0	0	0	1	0	3982	811	28	2	841	2	CSNK2A1	20	478425	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68699	478425	62547095	19258	21404											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	125					0	0	1	0	0	A	644759	G	A	644759	2	1	22	1	0	0	0	0	0	0	0	1	13996	1079	38	1		1	SCRT2	20	644759	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166334	644759	62380761	19259	21405											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	216					0	0	1	0	0	A	944697	G	A	944697	3	1	22	1	0	0	0	0	1	0	0	0	13764	1059	37	1	236	1	RSPO4	20	944697	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299938	944697	62080823	19260	21406											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000484891.1_3'UTR|PSMF1_ENST00000246015.4_Missense_Mutation_p.R204W|PSMF1_ENST00000438768.2_Missense_Mutation_p.R142W|PSMF1_ENST00000333082.3_Missense_Mutation_p.R204W|PSMF1_ENST00000381898.4_Missense_Mutation_p.R116W	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													261	1186					0	0	1	0	0	T	1144966	C	T	1144966	3	4	22	1	0	0	0	0	1	0	0	0	12759	875	31	1	632	1	PSMF1	20	1144966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200269	1144966	61880554	19261	21407											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	122					0	0	1	0	0	T	1286372	C	T	1286372	3	4	22	1	0	0	0	0	1	0	0	0	14904	759	27	1	1173	1	SNPH	20	1286372	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141406	1286372	61739148	19262	21408											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381724.3_Missense_Mutation_p.S73Y|SDCBP2-AS1_ENST00000446423.1_RNA|FKBP1A_ENST00000381715.1_Missense_Mutation_p.S73Y|FKBP1A_ENST00000439640.2_Missense_Mutation_p.S62Y|FKBP1A_ENST00000381719.3_Missense_Mutation_p.S78Y	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													55	252					1.4709e-25	1.68871e-25	1	1	0	T	1352850	G	T	1352850	3	4	22	1	0	0	0	0	1	0	0	0	5939	942	33	2	97	2	FKBP1A	20	1352850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66478	1352850	61672670	19263	21409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Missense_Mutation_p.I289T|NSFL1C_ENST00000350991.4_Missense_Mutation_p.I289T|NSFL1C_ENST00000353088.2_Missense_Mutation_p.I256T|NSFL1C_ENST00000381658.4_Missense_Mutation_p.I176T	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													206	814					0	0	1	0	0	G	1426401	A	G	1426401	3	3	22	1	0	0	0	0	1	0	0	0	10720	333	12	3	260	3	NSFL1C	20	1426401	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	73551	1426401	61599119	19264	21410											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R225W|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R225W|NSFL1C_ENST00000353088.2_Missense_Mutation_p.R192W|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R112W	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													156	666					0	0	1	0	0	A	1433256	G	A	1433256	3	1	22	1	0	0	0	0	1	0	0	0	10720	1057	37	1	457	1	NSFL1C	20	1433256	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6855	1433256	61592264	19265	21411											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP4-776F14.3_ENST00000553571.1_RNA|NSFL1C_ENST00000476071.1_Silent_p.E89E|NSFL1C_ENST00000350991.4_Silent_p.E89E|NSFL1C_ENST00000353088.2_Silent_p.E89E|NSFL1C_ENST00000216879.4_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													78	390					0	0	1	0	0	T	1438856	C	T	1438856	3	4	22	1	0	0	0	0	1	0	0	0	10720	681	24	2	873	2	NSFL1C	20	1438856	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5600	1438856	61586664	19266	21412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537284.1_Missense_Mutation_p.S3L|SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000381630.1_Intron	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													36	786					0	0	1	0	0	A	1460374	G	A	1460374	3	1	22	1	0	0	0	0	1	0	0	0	14389	1059	37	1	622	1	SIRPB2	20	1460374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21518	1460374	61565146	19267	21413											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_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													52	270					0	0	1	0	0	A	1552374	G	A	1552374	3	1	22	1	0	0	0	0	1	0	0	0	14388	1203	42	2	465	2	SIRPB1	20	1552374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92000	1552374	61473146	19268	21414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_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													16	444					0	0	1	0	0	A	1552659	G	A	1552659	3	1	22	1	0	0	0	0	1	0	0	0	14388	1059	37	1	750	1	SIRPB1	20	1552659	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	285	1552659	61472861	19269	21415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.P38H|SIRPB1_ENST00000381603.3_Missense_Mutation_p.P38H|SIRPB1_ENST00000262929.5_Missense_Mutation_p.P37H	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													10	560					0.000442599	0.000448314	1	1	0	T	1559304	G	T	1559304	3	4	22	1	0	0	0	0	1	0	0	0	14388	1000	35	2	1099	2	SIRPB1	20	1559304	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6645	1559304	61466216	19270	21416											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381596.1_5'UTR	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													72	128					0	0	1	0	0	A	1592006	G	A	1592006	3	1	22	1	0	0	0	0	1	0	0	0	14388	1087	38	1	1919	1	SIRPB1	20	1592006	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32702	1592006	61433514	19271	21417											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381596.1_5'UTR	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													109	225					0	0	1	0	0	A	1592091	G	A	1592091	2	1	22	1	0	0	0	0	0	0	0	1	14388	1103	39	1		1	SIRPB1	20	1592091	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85	1592091	61433429	19272	21418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000216927.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381583.2_Intron|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000303415.3_Missense_Mutation_p.A338V			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													77	333					0	0	1	0	0	A	1615981	G	A	1615981	3	1	22	1	0	0	0	0	1	0	0	0	14391	1087	38	1	158	1	SIRPG	20	1615981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23890	1615981	61409539	19273	21419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000216927.4_Missense_Mutation_p.N129S|SIRPG_ENST00000381583.2_Missense_Mutation_p.N129S|SIRPG_ENST00000344103.4_Missense_Mutation_p.N129S|SIRPG_ENST00000303415.3_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													22	549					0	0	1	0	0	C	1629742	T	C	1629742	3	2	22	1	0	0	0	0	1	0	0	0	14391	1725	60	3	793	3	SIRPG	20	1629742	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13761	1629742	61395778	19274	21420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356025.3_Missense_Mutation_p.R145S|SIRPA_ENST00000400068.3_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													29	406					2.32173e-10	2.46079e-10	1	1	0	A	1896098	C	A	1896098	3	1	22	1	0	0	0	0	1	0	0	0	14387	768	27	4	439	4	SIRPA	20	1896098	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	266356	1896098	61129422	19275	21421											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356025.3_Missense_Mutation_p.A340T|SIRPA_ENST00000400068.3_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													40	136					0	0	1	0	0	A	1903222	G	A	1903222	3	1	22	1	0	0	0	0	1	0	0	0	14387	971	34	2	1032	2	SIRPA	20	1903222	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7124	1903222	61122298	19276	21422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.R213C|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													137	578					0	0	1	0	0	A	1961097	G	A	1961097	3	1	22	1	0	0	0	0	1	0	0	0	11746	1087	38	1	131	1	PDYN	20	1961097	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57875	1961097	61064423	19277	21423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.A164T|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													82	462					0	0	1	0	0	T	1961244	C	T	1961244	3	4	22	1	0	0	0	0	1	0	0	0	11746	768	27	1	278	1	PDYN	20	1961244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147	1961244	61064276	19278	21424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400064.3_Intron|STK35_ENST00000246032.3_Silent_p.C176C			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													121	577					0	0	1	0	0	T	2097346	C	T	2097346	2	4	22	1	0	0	0	0	0	0	0	1	15357	805	28	2		2	STK35	20	2097346	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136102	2097346	60928174	19279	21425											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	521					0	0	1	0	0	A	2298000	G	A	2298000	2	1	22	1	0	0	0	0	0	0	0	1	15891	1306	46	2		2	TGM3	20	2298000	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200654	2298000	60727520	19280	21426											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	197					0	0	1	0	0	A	2308989	G	A	2308989	2	1	22	1	0	0	0	0	0	0	0	1	15891	1103	39	1		1	TGM3	20	2308989	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10989	2308989	60716531	19281	21427											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	433					6.50375e-52	8.08219e-52	1	1	0	T	2384147	G	T	2384147	5	4	22	1	0	0	0	0	0	0	1	0	15894	1275	44	2	1124	2	TGM6	20	2384147	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75158	2384147	60641373	19282	21428											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	148					0	0	1	0	0	A	2398031	G	A	2398031	3	1	22	1	0	0	0	0	1	0	0	0	15894	1203	42	2	1528	2	TGM6	20	2398031	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13884	2398031	60627489	19283	21429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_024325.4	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													64	286					0	0	1	0	0	A	2463857	G	A	2463857	4	1	22	1	0	0	0	0	0	1	0	0	17915	1095	38	1	53	1	ZNF343	20	2463857	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65826	2463857	60561663	19284	21430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	251					0	0	1	0	0	T	2552886	C	T	2552886	2	4	22	1	0	0	0	0	0	0	0	1	16045	564	20	2		2	TMC2	20	2552886	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89029	2552886	60472634	19285	21431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	296					0	0	1	0	0	C	2597782	T	C	2597782	3	2	22	1	0	0	0	0	1	0	0	0	16045	1638	57	3	2067	3	TMC2	20	2597782	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44896	2597782	60427738	19286	21432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	371					3.46703e-50	4.29469e-50	1	1	0	A	2604978	C	A	2604978	3	1	22	1	0	0	0	0	1	0	0	0	16045	680	24	2	2308	2	TMC2	20	2604978	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7196	2604978	60420542	19287	21433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	323					1.43161e-34	1.70348e-34	1	1	0	T	2636076	G	T	2636076	3	4	22	1	0	0	0	0	1	0	0	0	10586	991	35	2	697	2	NOP56	20	2636076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31098	2636076	60389444	19288	21434											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	477					0	0	1	0	0	T	2636275	C	T	2636275	2	4	22	1	0	0	0	0	0	0	0	1	10586	874	31	1		1	NOP56	20	2636275	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199	2636275	60389245	19289	21435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	196					0	0	1	0	0	T	2636638	C	T	2636638	3	4	22	1	0	0	0	0	1	0	0	0	10586	710	25	2	998	2	NOP56	20	2636638	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	363	2636638	60388882	19290	21436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	494					0	0	1	0	0	T	2777179	C	T	2777179	3	4	22	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	19291	21437											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359987.1_Nonsense_Mutation_p.R89*|GNRH2_ENST00000359100.2_Nonsense_Mutation_p.R90*|GNRH2_ENST00000245983.2_Nonsense_Mutation_p.R97*|GNRH2_ENST00000380346.2_Nonsense_Mutation_p.R89*			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													20	104					0	0	1	0	0	T	3025459	C	T	3025459	4	4	22	1	0	0	0	0	0	1	0	0	6590	760	27	1	295	1	GNRH2	20	3025459	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248280	3025459	60000061	19292	21438											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	292					0	0	1	0	0	T	3175985	C	T	3175985	2	4	22	1	0	0	0	0	0	0	0	1	4361	854	30	2		2	DDRGK1	20	3175985	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150526	3175985	59849535	19293	21439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_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													110	545					6.25226e-48	7.70577e-48	1	1	0	A	3209045	C	A	3209045	2	1	22	1	0	0	0	0	0	0	0	1	14707	842	30	2		2	SLC4A11	20	3209045	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33060	3209045	59816475	19294	21440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_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													69	327					0	0	1	0	0	T	3212030	C	T	3212030	2	4	22	1	0	0	0	0	0	0	0	1	14707	755	27	1		1	SLC4A11	20	3212030	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2985	3212030	59813490	19295	21441											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	174					0	0	1	0	0	A	3245112	G	A	3245112	4	1	22	1	0	0	0	0	0	1	0	0	2113	1153	40	1	716	1	C20orf194	20	3245112	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33082	3245112	59780408	19296	21442											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	187					0	0	1	0	0	T	3363127	C	T	3363127	3	4	22	1	0	0	0	0	1	0	0	0	2113	797	28	2	3567	2	C20orf194	20	3363127	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118015	3363127	59662393	19297	21443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													182	804					1.50726e-91	1.93564e-91	1	1	0	T	3564588	G	T	3564588	3	4	22	1	0	0	0	0	1	0	0	0	1204	1165	41	2	2874	2	ATRN	20	3564588	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201461	3564588	59460932	19298	21444											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000350009.2_Silent_p.T53T|ADAM33_ENST00000379861.4_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													20	72					0	0	1	0	0	A	3660157	G	A	3660157	2	1	22	1	0	0	0	0	0	0	0	1	249	1103	39	1		1	ADAM33	20	3660157	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95569	3660157	59365363	19299	21445											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	539					0	0	1	0	0	T	3669866	C	T	3669866	3	4	22	1	0	0	0	0	1	0	0	0	14360	536	19	1	131	1	SIGLEC1	20	3669866	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9709	3669866	59355654	19300	21446											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	129					0	0	1	0	0	A	3673242	G	A	3673242	3	1	22	1	0	0	0	0	1	0	0	0	14360	1319	46	2	1201	2	SIGLEC1	20	3673242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3376	3673242	59352278	19301	21447											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	238					0	0	1	0	0	A	3673398	G	A	3673398	3	1	22	1	0	0	0	0	1	0	0	0	14360	1116	39	1	1357	1	SIGLEC1	20	3673398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156	3673398	59352122	19302	21448											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	317					1.33834e-09	1.40959e-09	1	1	0	A	3673553	C	A	3673553	3	1	22	1	0	0	0	0	1	0	0	0	14360	797	28	2	1427	2	SIGLEC1	20	3673553	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	3673553	59351967	19303	21449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	248					1.52378e-38	1.83746e-38	1	1	0	A	3673586	C	A	3673586	3	1	22	1	0	0	0	0	1	0	0	0	14360	681	24	2	1460	2	SIGLEC1	20	3673586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	3673586	59351934	19304	21450											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	242					0.000978159	0.000988919	1	1	0	A	3673670	C	A	3673670	3	1	22	1	0	0	0	0	1	0	0	0	14360	797	28	2	1544	2	SIGLEC1	20	3673670	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84	3673670	59351850	19305	21451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	141					0	0	1	0	0	A	3678683	G	A	3678683	2	1	22	1	0	0	0	0	0	0	0	1	14360	1078	38	1		1	SIGLEC1	20	3678683	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5013	3678683	59346837	19306	21452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	56					9.16793e-09	9.60025e-09	1	1	0	T	3679957	G	T	3679957	3	4	22	1	0	0	0	0	1	0	0	0	14360	1000	35	2	3511	2	SIGLEC1	20	3679957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1274	3679957	59345563	19307	21453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	78					0	0	1	0	0	A	3730865	G	A	3730865	3	1	22	1	0	0	0	0	1	0	0	0	7448	1087	38	1	1330	1	HSPA12B	20	3730865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50908	3730865	59294655	19308	21454											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	500					0	0	1	0	0	A	3735096	G	A	3735096	2	1	22	1	0	0	0	0	0	0	0	1	2121	1079	38	1		1	C20orf27	20	3735096	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4231	3735096	59290424	19309	21455											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	185					0	0	1	0	0	G	3765499	A	G	3765499	2	3	22	1	0	0	0	0	0	0	0	1	3249	127	5	3		3	CENPB	20	3765499	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30403	3765499	59260021	19310	21456											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	360					0	0	1	0	0	T	3766779	C	T	3766779	3	4	22	1	0	0	0	0	1	0	0	0	3249	768	27	1	1451	1	CENPB	20	3766779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1280	3766779	59258741	19311	21457											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344256.6_Silent_p.S505S|CDC25B_ENST00000340833.4_Silent_p.S528S|CDC25B_ENST00000439880.2_Silent_p.S555S|CDC25B_ENST00000379598.5_Silent_p.S478S|CDC25B_ENST00000467519.1_3'UTR	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													65	392					0	0	1	0	0	T	3785572	C	T	3785572	2	4	22	1	0	0	0	0	0	0	0	1	3085	738	26	2		2	CDC25B	20	3785572	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18793	3785572	59239948	19312	21458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	405					0	0	1	0	0	T	3841982	C	T	3841982	3	4	22	1	0	0	0	0	1	0	0	0	9388	507	18	2	306	2	MAVS	20	3841982	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56410	3841982	59183538	19313	21459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	217					0	0	1	0	0	A	3842924	G	A	3842924	3	1	22	1	0	0	0	0	1	0	0	0	9388	1074	38	1	503	1	MAVS	20	3842924	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	942	3842924	59182596	19314	21460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	52					0	0	1	0	0	T	3869814	C	T	3869814	2	4	22	1	0	0	0	0	0	0	0	1	11464	796	28	2		2	PANK2	20	3869814	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26890	3869814	59155706	19315	21461											
PANK2	80025	broad.mit.edu	37	chr20	3893120	3893120	+	Frame_Shift_Del	DEL	T	T	-													catagtcttggaggaggaacTttttttggtctctgctgtct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3893120delT	ENST00000497424.1	+	4	689	c.378delT	c.(376-378)acfs	p.T126fs	PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	417			G -> A (in dbSNP:rs3737084).		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						GAGGAGGAACTTTTTTTGGTC	0.343													7	1255	---	---	---	---						-	3893120	T	-	3893120	7	5	22	1	0	1	0	1	0	0	0	0	11464	1596	56	0	1265	0	PANK2	20	3893120	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	23306	3893120	59132400	19316	21462											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3914846C>T	ENST00000336095.5	-	6	562	c.311G>A	c.(310-312)tGc>tAc	p.C104Y	RNF24_ENST00000545616.1_Missense_Mutation_p.C125Y|RNF24_ENST00000432261.2_Missense_Mutation_p.C125Y|RNF24_ENST00000358395.6_Missense_Mutation_p.C104Y	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	104						Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						CTTAATAAGGCACCTGCAGAA	0.542													58	264					0	0	1	0	0	T	3914846	C	T	3914846	3	4	22	1	0	0	0	0	1	0	0	0	13536	710	25	2	139	2	RNF24	20	3914846	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21726	3914846	59110674	19317	21463											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379460.2_Missense_Mutation_p.R542H|SMOX_ENST00000339123.6_Missense_Mutation_p.R489H|SMOX_ENST00000278795.3_Missense_Mutation_p.R519H	NM_175839.1	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													74	296					0	0	1	0	0	A	4168011	G	A	4168011	3	1	22	1	0	0	0	0	1	0	0	0	14857	1087	38	1	1741	1	SMOX	20	4168011	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	253165	4168011	58857509	19318	21464											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	183					0	0	1	0	0	T	4680520	C	T	4680520	2	4	22	1	0	0	0	0	0	0	0	1	12596	547	19	1		1	PRNP	20	4680520	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	512509	4680520	58345000	19319	21465											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	253					0	0	1	0	0	T	4705663	C	T	4705663	3	4	22	1	0	0	0	0	1	0	0	0	12595	875	31	1	468	1	PRND	20	4705663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25143	4705663	58319857	19320	21466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000338244.1_Silent_p.Q309Q|SLC23A2_ENST00000424750.2_Silent_p.Q195Q	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													118	569					0	0	1	0	0	T	4855240	C	T	4855240	2	4	22	1	0	0	0	0	0	0	0	1	14518	796	28	2		2	SLC23A2	20	4855240	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149577	4855240	58170280	19321	21467											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	117					0	0	1	0	0	C	5539456	T	C	5539456	2	2	22	1	0	0	0	0	0	0	0	1	6643	1838	64	3		3	GPCPD1	20	5539456	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	684216	5539456	57486064	19322	21468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	336					1.7488e-33	2.07287e-33	1	1	0	A	5844104	C	A	5844104	3	1	22	1	0	0	0	0	1	0	0	0	2115	680	24	2	619	2	C20orf196	20	5844104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	304648	5844104	57181416	19323	21469											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	376					0	0	1	0	0	T	5927132	C	T	5927132	3	4	22	1	0	0	0	0	1	0	0	0	16629	739	26	2	1357	2	TRMT6	20	5927132	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83028	5927132	57098388	19324	21470											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000265187.4_Missense_Mutation_p.K76N|MCM8_ENST00000378883.1_Missense_Mutation_p.K76N|MCM8_ENST00000378886.2_Missense_Mutation_p.K76N	NM_032485.4|NM_182802.1	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													149	653					0	0	1	0	0	C	5933149	A	C	5933149	3	2	22	1	0	0	0	0	1	0	0	0	9443	69	3	3	234	3	MCM8	20	5933149	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6017	5933149	57092371	19325	21471											
MCM8	84515	broad.mit.edu	37	chr20	5966674	5966674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctatccacagaagctgctcGagttcttcaagatttttacc	7	11	2	2	rs149433613	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5966674G>A	ENST00000378896.3	+	16	2437	c.2060G>A	c.(2059-2061)cGa>cAa	p.R687Q	MCM8_ENST00000265187.4_Missense_Mutation_p.R671Q|MCM8_ENST00000378883.1_Missense_Mutation_p.R640Q|MCM8_ENST00000378886.2_Missense_Mutation_p.R727Q	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	687					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						GAAGCTGCTCGAGTTCTTCAA	0.468													80	377					0	0	1	0	0	A	5966674	G	A	5966674	3	1	22	1	0	0	0	0	1	0	0	0	9443	1058	37	1	2118	1	MCM8	20	5966674	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33525	5966674	57058846	19326	21472											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000265187.4_Missense_Mutation_p.R785W|MCM8_ENST00000378883.1_Missense_Mutation_p.R754W|MCM8_ENST00000378886.2_Missense_Mutation_p.R841W	NM_032485.4|NM_182802.1	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													7	292					0	0	1	0	0	T	5974312	C	T	5974312	3	4	22	1	0	0	0	0	1	0	0	0	9443	875	31	1	2467	1	MCM8	20	5974312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7638	5974312	57051208	19327	21473											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	424					0	0	1	0	0	T	6022053	C	T	6022053	3	4	22	1	0	0	0	0	1	0	0	0	9082	768	27	1	388	1	LRRN4	20	6022053	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47741	6022053	57003467	19328	21474											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	331					0	0	1	0	0	T	6022592	C	T	6022592	2	4	22	1	0	0	0	0	0	0	0	1	9082	871	31	1		1	LRRN4	20	6022592	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	539	6022592	57002928	19329	21475											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	289					0	0	1	0	0	T	6031566	C	T	6031566	3	4	22	1	0	0	0	0	1	0	0	0	9082	652	23	1	1515	1	LRRN4	20	6031566	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8974	6031566	56993954	19330	21476											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													214	878					0	0	1	0	0	A	6077578	G	A	6077578	2	1	22	1	0	0	0	0	0	0	0	1	5850	991	35	2		2	FERMT1	20	6077578	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46012	6077578	56947942	19331	21477											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	368					1.33835e-49	1.65573e-49	1	1	0	A	6091159	C	A	6091159	5	1	22	1	0	0	0	0	0	0	1	0	5850	579	20	2	1545	2	FERMT1	20	6091159	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13581	6091159	56934361	19332	21478											
BMP2	650	broad.mit.edu	37	chr20	6750998	6750999	+	Frame_Shift_Ins	INS	-	-	C													ccagcagggacgccgtggtgINScccccctacatgctagacct					rs79417223		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6750998_6750999insC	ENST00000378827.4	+	2	1444_1445	c.225_226insC	c.(223-228)gtccccfs	p.VP75fs		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	75					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)	ACGCCGTGGTGCCCCCCTACAT	0.653													35	174	---	---	---	---						C	6750999	-	C	6750998	7	5	22	1	0	1	1	0	0	0	0	0	1458	1306	46	0	227	0	BMP2	20	6750998	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	659839	6750998	56274522	19333	21479											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	249					0	0	1	0	0	A	7886939	G	A	7886939	3	1	22	1	0	0	0	0	1	0	0	0	6992	1174	41	2	549	2	HAO1	20	7886939	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1135941	7886939	55138581	19334	21480											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	282					2.84776e-26	3.27917e-26	1	1	0	T	7962940	G	T	7962940	2	4	22	1	0	0	0	0	0	0	0	1	16329	987	35	2		2	TMX4	20	7962940	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76001	7962940	55062580	19335	21481											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	256					0	0	1	0	0	T	7963119	C	T	7963119	3	4	22	1	0	0	0	0	1	0	0	0	16329	922	32	2	224	2	TMX4	20	7963119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179	7963119	55062401	19336	21482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	179					1.62957e-23	1.85347e-23	1	1	0	A	7963222	C	A	7963222	3	1	22	1	0	0	0	0	1	0	0	0	16329	680	24	2	327	2	TMX4	20	7963222	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103	7963222	55062298	19337	21483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	141					0	0	1	0	0	C	8113379	A	C	8113379	3	2	22	1	0	0	0	0	1	0	0	0	12075	98	4	3	83	3	PLCB1	20	8113379	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	150157	8113379	54912141	19338	21484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000414679.2_Missense_Mutation_p.N653S|PLCB4_ENST00000378473.3_Missense_Mutation_p.N653S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.N641S|PLCB4_ENST00000334005.3_Missense_Mutation_p.N641S|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													36	123					0	0	1	0	0	G	9389787	A	G	9389787	3	3	22	1	0	0	0	0	1	0	0	0	12078	43	2	3	2040	3	PLCB4	20	9389787	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1276408	9389787	53635733	19339	21485											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000414679.2_Nonsense_Mutation_p.R809*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.R809*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Nonsense_Mutation_p.R797*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.R797*|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													28	145					0	0	1	0	0	T	9404500	C	T	9404500	4	4	22	1	0	0	0	0	0	1	0	0	12078	876	31	1	2523	1	PLCB4	20	9404500	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14713	9404500	53621020	19340	21486											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	311					1.03218e-28	1.20291e-28	1	1	0	A	9538310	C	A	9538310	3	1	22	1	0	0	0	0	1	0	0	0	11452	855	30	2	487	2	PAK7	20	9538310	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133810	9538310	53487210	19341	21487											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	444					0	0	1	0	0	T	9546846	C	T	9546846	2	4	22	1	0	0	0	0	0	0	0	1	11452	755	27	1		1	PAK7	20	9546846	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8536	9546846	53478674	19342	21488											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				27	132					7.07758e-08	7.37026e-08	1	1	0	A	10620604	C	A	10620604	5	1	22	1	0	0	0	0	0	0	1	0	7978	927	32	2	461	2	JAG1	20	10620604	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1073758	10620604	52404916	19343	21489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				76	295					0	0	1	0	0	T	10621489	C	T	10621489	2	4	22	1	0	0	0	0	0	0	0	1	7978	755	27	1		1	JAG1	20	10621489	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	885	10621489	52404031	19344	21490											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	429					0	0	1	0	0	A	13140662	G	A	13140662	2	1	22	1	0	0	0	0	0	0	0	1	15181	1194	42	2		2	SPTLC3	20	13140662	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2519173	13140662	49884858	19345	21491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	348					8.12818e-05	8.2724e-05	1	1	0	T	13140767	G	T	13140767	3	4	22	1	0	0	0	0	1	0	0	0	15181	933	33	2	1575	2	SPTLC3	20	13140767	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105	13140767	49884753	19346	21492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13279702G>A	ENST00000262487.3	+	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	331	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CACTGAGGTGGCCTACAGCAC	0.582													30	102					0	0	1	0	0	A	13279702	G	A	13279702	3	1	22	1	0	0	0	0	1	0	0	0	7904	1203	42	2	1013	2	ISM1	20	13279702	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138935	13279702	49745818	19347	21493											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Intron	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													12	466					1.52009e-12	1.63397e-12	1	1	0	A	13561576	C	A	13561576	3	1	22	1	0	0	0	0	1	0	0	0	15646	680	24	2	842	2	TASP1	20	13561576	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	281874	13561576	49463944	19348	21494											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	378					0	0	1	0	0	G	13695780	T	G	13695780	3	3	22	1	0	0	0	0	1	0	0	0	5279	1638	57	3	262	3	ESF1	20	13695780	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	134204	13695780	49329740	19349	21495											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	420					1.55469e-16	1.70887e-16	1	1	0	T	13698151	G	T	13698151	3	4	22	1	0	0	0	0	1	0	0	0	5279	971	34	2	437	2	ESF1	20	13698151	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2371	13698151	49327369	19350	21496											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13714488A>C	ENST00000202816.1	-	10	1937	c.1828_splice	c.e10-1	p.G610_splice		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													101	471					0	0	1	0	0	C	13714488	A	C	13714488	5	2	22	1	0	0	0	0	0	0	1	0	5279	289	10	3	745	3	ESF1	20	13714488	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16337	13714488	49311032	19351	21497											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	283					0	0	1	0	0	A	13830889	G	A	13830889	3	1	22	1	0	0	0	0	1	0	0	0	14065	1203	42	2	179	2	SEL1L2	20	13830889	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116401	13830889	49194631	19352	21498											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	428					0	0	1	0	0	A	13868480	G	A	13868480	3	1	22	1	0	0	0	0	1	0	0	0	14065	1059	37	1	1438	1	SEL1L2	20	13868480	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37591	13868480	49157040	19353	21499											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	186					2.1956e-27	2.54205e-27	1	1	0	T	13868619	G	T	13868619	3	4	22	1	0	0	0	0	1	0	0	0	14065	971	34	2	1490	2	SEL1L2	20	13868619	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139	13868619	49156901	19354	21500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	46					0	0	1	0	0	C	13869125	T	C	13869125	3	2	22	1	0	0	0	0	1	0	0	0	14065	1493	52	3	1543	3	SEL1L2	20	13869125	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	506	13869125	49156395	19355	21501											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	306					0	0	1	0	0	A	13971165	G	A	13971165	2	1	22	1	0	0	0	0	0	0	0	1	14065	933	33	2		2	SEL1L2	20	13971165	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102040	13971165	49054355	19356	21502											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.G640D	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													20	626					0	0	1	0	0	T	14306234	C	T	14306234	3	4	22	1	0	0	0	0	1	0	0	0	5973	507	18	2	34	2	FLRT3	20	14306234	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	335069	14306234	48719286	19357	21503											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.N213T	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													60	273					0	0	1	0	0	G	14307515	T	G	14307515	3	3	22	1	0	0	0	0	1	0	0	0	5973	1493	52	3	1315	3	FLRT3	20	14307515	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1281	14307515	48718005	19358	21504											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.Q69R	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													131	599					0	0	1	0	0	C	14307947	T	C	14307947	3	2	22	1	0	0	0	0	1	0	0	0	5973	1812	63	3	1747	3	FLRT3	20	14307947	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	432	14307947	48717573	19359	21505											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Silent_p.S30S	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													75	378					0	0	1	0	0	A	14308063	G	A	14308063	2	1	22	1	0	0	0	0	0	0	0	1	5973	987	35	2		2	FLRT3	20	14308063	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116	14308063	48717457	19360	21506											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	322					0	0	1	0	0	T	14474150	A	T	14474150	2	4	22	1	0	0	0	0	0	0	0	1	9192	291	11	5		5	MACROD2	20	14474150	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	166087	14474150	48551370	19361	21507											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402914.1_Missense_Mutation_p.E73K|MACROD2_ENST00000310348.4_Missense_Mutation_p.E308K	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													58	321					0	0	1	0	0	A	15948212	G	A	15948212	3	1	22	1	0	0	0	0	1	0	0	0	9192	1291	45	2	972	2	MACROD2	20	15948212	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1474062	15948212	47077308	19362	21508											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402914.1_Missense_Mutation_p.R87C|MACROD2_ENST00000310348.4_Missense_Mutation_p.R322C	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													72	407					0	0	1	0	0	T	15948254	C	T	15948254	3	4	22	1	0	0	0	0	1	0	0	0	9192	768	27	1	1014	1	MACROD2	20	15948254	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42	15948254	47077266	19363	21509											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402914.1_Missense_Mutation_p.S166I|MACROD2_ENST00000407045.3_Missense_Mutation_p.S52I|MACROD2_ENST00000310348.4_Missense_Mutation_p.S401I	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													24	105					3.83957e-06	3.94984e-06	1	1	0	T	16021894	G	T	16021894	3	4	22	1	0	0	0	0	1	0	0	0	9192	1029	36	2	1264	2	MACROD2	20	16021894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73640	16021894	47003626	19364	21510											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355755.3_Intron|KIF16B_ENST00000378003.2_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													25	99					0	0	1	0	0	T	16348282	A	T	16348282	3	4	22	1	0	0	0	0	1	0	0	0	8320	87	3	5		5	KIF16B	20	16348282	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	326388	16348282	46677238	19365	21511											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000408042.1_Silent_p.V1081V|KIF16B_ENST00000355755.3_Silent_p.V1081V|KIF16B_ENST00000378003.2_Silent_p.V307V	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													70	311					0	0	1	0	0	A	16355009	G	A	16355009	2	1	22	1	0	0	0	0	0	0	0	1	8320	1045	37	1		1	KIF16B	20	16355009	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6727	16355009	46670511	19366	21512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000408042.1_Silent_p.S278S|KIF16B_ENST00000355755.3_Silent_p.S278S|KIF16B_ENST00000378003.2_5'UTR	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													13	494					1.49906e-05	1.53515e-05	1	1	0	T	16486701	G	T	16486701	2	4	22	1	0	0	0	0	0	0	0	1	8320	1219	43	2		2	KIF16B	20	16486701	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131692	16486701	46538819	19367	21513											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	227					9.53978e-28	1.10624e-27	1	1	0	T	16729634	G	T	16729634	4	4	22	1	0	0	0	0	0	1	0	0	11355	943	33	2	244	2	OTOR	20	16729634	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242933	16729634	46295886	19368	21514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	401					8.45761e-33	1.00019e-32	1	1	0	A	17462277	C	A	17462277	2	1	22	1	0	0	0	0	0	0	0	1	11648	668	24	2		2	PCSK2	20	17462277	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	732643	17462277	45563243	19369	21515											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377807.2_Missense_Mutation_p.R450C|RRBP1_ENST00000246043.4_Missense_Mutation_p.R883C|RRBP1_ENST00000455029.2_Missense_Mutation_p.R224C|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													37	148					0	0	1	0	0	A	17610570	G	A	17610570	3	1	22	1	0	0	0	0	1	0	0	0	13730	1087	38	1	1653	1	RRBP1	20	17610570	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148293	17610570	45414950	19370	21516											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													211	994					0	0	1	0	0	C	17923780	A	C	17923780	3	2	22	1	0	0	0	0	1	0	0	0	14959	275	10	3	84	3	SNX5	20	17923780	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	313210	17923780	45101740	19371	21517											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													219	941					3.76961e-87	4.83455e-87	1	1	0	T	17934647	G	T	17934647	3	4	22	1	0	0	0	0	1	0	0	0	14959	1020	36	2	872	2	SNX5	20	17934647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10867	17934647	45090873	19372	21518											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18143582G>A	ENST00000278816.2	+	7	2314	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	CSRP2BP_ENST00000377681.2_Missense_Mutation_p.R554Q|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.R555Q|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R427Q			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	555					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													19	140					0	0	1	0	0	A	18143582	G	A	18143582	3	1	22	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	19373	21519											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18162409G>A	ENST00000278816.2	+	8	2377	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H	CSRP2BP_ENST00000377681.2_Missense_Mutation_p.R575H|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.R576H|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R448H			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	576					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													98	470					0	0	1	0	0	A	18162409	G	A	18162409	3	1	22	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	19374	21520											
ZNF133	7692	broad.mit.edu	37	chr20	18296806	18296806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacacactggggagaagccGtatgtttgtggggtgtgtgg	17	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18296806G>A	ENST00000377671.3	+	7	1867	c.1308G>A	c.(1306-1308)ccG>ccA	p.P436P	ZNF133_ENST00000535822.1_Silent_p.P342P|ZNF133_ENST00000396026.3_Silent_p.P440P|ZNF133_ENST00000316358.4_Silent_p.P437P|ZNF133_ENST00000401790.1_Silent_p.P437P|ZNF133_ENST00000538547.1_Silent_p.P342P|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000402618.2_Silent_p.P374P	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	437						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						GGGAGAAGCCGTATGTTTGTG	0.537													94	365					0	0	1	0	0	A	18296806	G	A	18296806	2	1	22	1	0	0	0	0	0	0	0	1	17781	1132	40	1		1	ZNF133	20	18296806	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134397	18296806	44728714	19375	21521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535822.1_Silent_p.T420T|ZNF133_ENST00000396026.3_Silent_p.T518T|ZNF133_ENST00000316358.4_Silent_p.T515T|ZNF133_ENST00000401790.1_Silent_p.T515T|ZNF133_ENST00000538547.1_Silent_p.T420T|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000402618.2_Silent_p.T452T	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	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													49	358					0	0	1	0	0	A	18297040	G	A	18297040	2	1	22	1	0	0	0	0	0	0	0	1	17781	1074	38	1		1	ZNF133	20	18297040	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234	18297040	44728480	19376	21522											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535822.1_Missense_Mutation_p.G465V|ZNF133_ENST00000396026.3_Missense_Mutation_p.G563V|ZNF133_ENST00000316358.4_Missense_Mutation_p.G560V|ZNF133_ENST00000401790.1_Missense_Mutation_p.G560V|ZNF133_ENST00000538547.1_Missense_Mutation_p.G465V|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000402618.2_Missense_Mutation_p.G497V	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	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													51	238					1.86633e-21	2.10207e-21	1	1	0	T	18297174	G	T	18297174	3	4	22	1	0	0	0	0	1	0	0	0	17781	1203	42	2	1686	2	ZNF133	20	18297174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134	18297174	44728346	19377	21523											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	248					0	0	1	0	0	A	18471048	G	A	18471048	3	1	22	1	0	0	0	0	1	0	0	0	13158	1087	38	1	243	1	RBBP9	20	18471048	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	173874	18471048	44554472	19378	21524											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:19698237G>A	ENST00000328041.6	+	16	1982	c.1785_splice	c.e16+1	p.T595_splice		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													249	1007					0	0	1	0	0	A	19698237	G	A	19698237	5	1	22	1	0	0	0	0	0	0	1	0	14522	1130	39	1	1847	1	SLC24A3	20	19698237	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1227189	19698237	43327283	19379	21525											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536226.1_Silent_p.H676H|CRNKL1_ENST00000521379.1_5'UTR|CRNKL1_ENST00000377327.4_Silent_p.H825H	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													86	510					0	0	1	0	0	A	20016875	G	A	20016875	2	1	22	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	19380	21526											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377306.1_Missense_Mutation_p.Y357H|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_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													40	348					0	0	1	0	0	C	20144736	T	C	20144736	3	2	22	1	0	0	0	0	1	0	0	0	2120	1638	57	3	1107	3	C20orf26	20	20144736	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	127861	20144736	42880784	19381	21527											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													159	665					5.60145e-70	7.11217e-70	1	1	0	A	20180434	C	A	20180434	3	1	22	1	0	0	0	0	1	0	0	0	2120	855	30	2	1914	2	C20orf26	20	20180434	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35698	20180434	42845086	19382	21528											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	719					0	0	1	0	0	A	20180517	G	A	20180517	3	1	22	1	0	0	0	0	1	0	0	0	2120	1087	38	1	1997	1	C20orf26	20	20180517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83	20180517	42845003	19383	21529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													158	831					0	0	1	0	0	C	20269275	A	C	20269275	3	2	22	1	0	0	0	0	1	0	0	0	2120	72	3	3	2937	3	C20orf26	20	20269275	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	88758	20269275	42756245	19384	21530											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	231					0	0	1	0	0	A	20278871	G	A	20278871	3	1	22	1	0	0	0	0	1	0	0	0	2120	1058	37	1	3389	1	C20orf26	20	20278871	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9596	20278871	42746649	19385	21531											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	118					0	0	1	0	0	T	20279025	C	T	20279025	2	4	22	1	0	0	0	0	0	0	0	1	2120	900	32	2		2	C20orf26	20	20279025	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154	20279025	42746495	19386	21532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	190	742					0	0	1	0	0	G	20340951	T	G	20340951	3	3	22	1	0	0	0	0	1	0	0	0	2120	1841	64	3	3745	3	C20orf26	20	20340951	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	61926	20340951	42684569	19387	21533											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20517328T>G	ENST00000202677.6	-	25	3528	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)	1129					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													32	121					0	0	1	0	0	G	20517328	T	G	20517328	3	3	22	1	0	0	0	0	1	0	0	0	13066	1551	54	3	2295	3	RALGAPA2	20	20517328	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	176377	20517328	42508192	19388	21534											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20620538A>G	ENST00000202677.6	-	7	699	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)	186					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													90	375					0	0	1	0	0	G	20620538	A	G	20620538	3	3	22	1	0	0	0	0	1	0	0	0	13066	449	16	3	5196	3	RALGAPA2	20	20620538	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	103210	20620538	42404982	19389	21535											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539513.1_5'UTR|XRN2_ENST00000430571.2_Intron	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													33	173					0	0	1	0	0	A	21306927	G	A	21306927	3	1	22	1	0	0	0	0	1	0	0	0	17520	1319	46	2	92	2	XRN2	20	21306927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	686389	21306927	41718593	19390	21536											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539513.1_Missense_Mutation_p.S277I|XRN2_ENST00000430571.2_Missense_Mutation_p.S255I	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													260	1144					3.22634e-79	4.12331e-79	1	1	0	T	21314400	G	T	21314400	3	4	22	1	0	0	0	0	1	0	0	0	17520	971	34	2	1034	2	XRN2	20	21314400	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7473	21314400	41711120	19391	21537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539513.1_Missense_Mutation_p.A724S|XRN2_ENST00000430571.2_Missense_Mutation_p.A702S	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													66	344					3.37205e-40	4.08638e-40	1	1	0	T	21346218	G	T	21346218	3	4	22	1	0	0	0	0	1	0	0	0	17520	971	34	2	2434	2	XRN2	20	21346218	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31818	21346218	41679302	19392	21538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	59					0	0	1	0	0	G	21376850	T	G	21376850	3	3	22	1	0	0	0	0	1	0	0	0	10499	1580	55	3	304	3	NKX2-4	20	21376850	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30632	21376850	41648670	19393	21539											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	250					0	0	1	0	0	T	21492786	C	T	21492786	2	4	22	1	0	0	0	0	0	0	0	1	10497	755	27	1		1	NKX2-2	20	21492786	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115936	21492786	41532734	19394	21540											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	165					0	0	1	0	0	A	21494152	G	A	21494152	2	1	22	1	0	0	0	0	0	0	0	1	10497	1219	43	2		2	NKX2-2	20	21494152	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1366	21494152	41531368	19395	21541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													166	802					0	0	1	0	0	T	23016359	C	T	23016359	3	4	22	1	0	0	0	0	1	0	0	0	15256	536	19	1	241	1	SSTR4	20	23016359	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1522207	23016359	40009161	19396	21542											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	765					0	0	1	0	0	T	23016448	C	T	23016448	3	4	22	1	0	0	0	0	1	0	0	0	15256	768	27	1	330	1	SSTR4	20	23016448	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89	23016448	40009072	19397	21543											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	418					0	0	1	0	0	A	23016594	G	A	23016594	2	1	22	1	0	0	0	0	0	0	0	1	15256	1190	42	2		2	SSTR4	20	23016594	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146	23016594	40008926	19398	21544											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	445					0	0	1	0	0	A	23016650	T	A	23016650	3	1	22	1	0	0	0	0	1	0	0	0	15256	1667	58	5	532	5	SSTR4	20	23016650	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	56	23016650	40008870	19399	21545											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	375					2.2129e-31	2.60483e-31	1	1	0	T	23028870	G	T	23028870	3	4	22	1	0	0	0	0	1	0	0	0	15912	962	34	2	459	2	THBD	20	23028870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12220	23028870	39996650	19400	21546											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	403					4.00405e-42	4.87196e-42	1	1	0	T	23028930	G	T	23028930	4	4	22	1	0	0	0	0	0	1	0	0	15912	1195	42	2	519	2	THBD	20	23028930	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	23028930	39996590	19401	21547											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	88					0	0	1	0	0	T	23029298	C	T	23029298	3	4	22	1	0	0	0	0	1	0	0	0	15912	768	27	1	887	1	THBD	20	23029298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	368	23029298	39996222	19402	21548											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	401					0	0	1	0	0	A	23065886	G	A	23065886	3	1	22	1	0	0	0	0	1	0	0	0	3069	1203	42	2	1022	2	CD93	20	23065886	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36588	23065886	39959634	19403	21549											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	97					0	0	1	0	0	C	23066450	T	C	23066450	3	2	22	1	0	0	0	0	1	0	0	0	3069	1725	60	3	1586	3	CD93	20	23066450	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	564	23066450	39959070	19404	21550											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	60					0	0	1	0	0	A	23066551	G	A	23066551	2	1	22	1	0	0	0	0	0	0	0	1	3069	933	33	2		2	CD93	20	23066551	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101	23066551	39958969	19405	21551											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	86					0	0	1	0	0	A	23066662	G	A	23066662	2	1	22	1	0	0	0	0	0	0	0	1	3069	1136	40	1		1	CD93	20	23066662	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	23066662	39958858	19406	21552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	179					0	0	1	0	0	A	23335079	G	A	23335079	3	1	22	1	0	0	0	0	1	0	0	0	10842	1087	38	1	403	1	NXT1	20	23335079	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	268417	23335079	39690441	19407	21553											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377051.2_Missense_Mutation_p.P236S|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron			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													54	243					0	0	1	0	0	T	23345726	C	T	23345726	3	4	22	1	0	0	0	0	1	0	0	0	6955	623	22	2	708	2	GZF1	20	23345726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10647	23345726	39679794	19408	21554											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_Missense_Mutation_p.H340R|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron			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													106	594					0	0	1	0	0	G	23346039	A	G	23346039	3	3	22	1	0	0	0	0	1	0	0	0	6955	159	6	3	1021	3	GZF1	20	23346039	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	313	23346039	39679481	19409	21555											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377051.2_Silent_p.T585T|GZF1_ENST00000542987.1_Silent_p.T94T|GZF1_ENST00000544236.1_Silent_p.T109T			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													75	356					0	0	1	0	0	T	23350348	C	T	23350348	2	4	22	1	0	0	0	0	0	0	0	1	6955	639	23	1		1	GZF1	20	23350348	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4309	23350348	39675172	19410	21556											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377051.2_Missense_Mutation_p.R591W|GZF1_ENST00000542987.1_Missense_Mutation_p.R100W|GZF1_ENST00000544236.1_Missense_Mutation_p.R115W			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													66	308					0	0	1	0	0	T	23350364	C	T	23350364	3	4	22	1	0	0	0	0	1	0	0	0	6955	875	31	1	1785	1	GZF1	20	23350364	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	23350364	39675156	19411	21557											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377051.2_Missense_Mutation_p.K599T|GZF1_ENST00000542987.1_Missense_Mutation_p.K108T|GZF1_ENST00000544236.1_Missense_Mutation_p.K123T			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													42	165					0	0	1	0	0	C	23350738	A	C	23350738	3	2	22	1	0	0	0	0	1	0	0	0	6955	72	3	3	1814	3	GZF1	20	23350738	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	374	23350738	39674782	19412	21558											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													172	658					0	0	1	0	0	A	23433311	G	A	23433311	2	1	22	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	19413	21559											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	222					0	0	1	0	0	A	23548955	G	A	23548955	3	1	22	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	19414	21560											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	117					3.09899e-07	3.21319e-07	1	1	0	T	23549084	G	T	23549084	3	4	22	1	0	0	0	0	1	0	0	0	4005	962	34	2	451	2	CST9L	20	23549084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129	23549084	39476436	19415	21561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	282					0.000442599	0.000448314	1	1	0	T	23614613	G	T	23614613	2	4	22	1	0	0	0	0	0	0	0	1	3998	932	33	2		2	CST3	20	23614613	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65529	23614613	39410907	19416	21562											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	220					0	0	1	0	0	A	23807102	G	A	23807102	3	1	22	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	19417	21563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	291					0	0	1	0	0	C	23807128	T	C	23807128	3	2	22	1	0	0	0	0	1	0	0	0	3997	1609	56	3	267	3	CST2	20	23807128	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26	23807128	39218392	19418	21564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	394					0	0	1	0	0	T	24940294	C	T	24940294	2	4	22	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	19419	21565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000323482.4_Silent_p.Q308Q|ACSS1_ENST00000542618.1_Silent_p.Q187Q|ACSS1_ENST00000432802.2_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													16	148					0	0	1	0	0	T	25003612	C	T	25003612	2	4	22	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	19420	21566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433259.2_Missense_Mutation_p.T337M|ENTPD6_ENST00000376652.4_Missense_Mutation_p.T371M|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													128	590					0	0	1	0	0	T	25203540	C	T	25203540	3	4	22	1	0	0	0	0	1	0	0	0	5171	536	19	1	1161	1	ENTPD6	20	25203540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199928	25203540	37821980	19421	21567											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433259.2_Missense_Mutation_p.Q417H|ENTPD6_ENST00000376652.4_Missense_Mutation_p.S437I|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													18	125					1.33834e-09	1.40959e-09	1	1	0	T	25205907	G	T	25205907	3	4	22	1	0	0	0	0	1	0	0	0	5171	971	34	2	1367	2	ENTPD6	20	25205907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2367	25205907	37819613	19422	21568											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433259.2_Silent_p.Q429Q|ENTPD6_ENST00000376652.4_Missense_Mutation_p.K449R|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													22	128					0	0	1	0	0	G	25205943	A	G	25205943	3	3	22	1	0	0	0	0	1	0	0	0	5171	14	1	3	1403	3	ENTPD6	20	25205943	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36	25205943	37819577	19423	21569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	917					0	0	1	0	0	A	25255323	G	A	25255323	2	1	22	1	0	0	0	0	0	0	0	1	12912	962	34	2		2	PYGB	20	25255323	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49380	25255323	37770197	19424	21570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	327					0	0	1	0	0	T	25277122	C	T	25277122	2	4	22	1	0	0	0	0	0	0	0	1	12912	506	18	2		2	PYGB	20	25277122	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21799	25277122	37748398	19425	21571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376542.3_Missense_Mutation_p.P266S|ABHD12_ENST00000481556.1_5'UTR	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													41	293					0	0	1	0	0	A	25288673	G	A	25288673	3	1	22	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	19426	21572											
GINS1	9837	broad.mit.edu	37	chr20	25422396	25422397	+	Frame_Shift_Ins	INS	-	-	A													gatggcacttcagtcctattINSaaaaaaaaatagccaggtat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25422396_25422397insA	ENST00000262460.4	+	6	600_601	c.506_507insA	c.(505-507)taafs	p.*169fs	GINS1_ENST00000429262.2_3'UTR	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	169					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		p.N172fs*14(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						TCAGTCCTATTAAAAAAAAATA	0.297													7	321	---	---	---	---						A	25422397	-	A	25422396	7	5	22	1	0	1	1	0	0	0	0	0	6429	1764	61	0	528	0	GINS1	20	25422396	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	133723	25422396	37603124	19427	21573											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	171	703					0	0	1	0	0	A	25450686	G	A	25450686	2	1	22	1	0	0	0	0	0	0	0	1	10467	1136	40	1		1	NINL	20	25450686	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28290	25450686	37574834	19428	21574											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	122					0	0	1	0	0	A	25457376	G	A	25457376	3	1	22	1	0	0	0	0	1	0	0	0	10467	1174	41	2	1629	2	NINL	20	25457376	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6690	25457376	37568144	19429	21575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													124	498					0	0	1	0	0	A	25470535	G	A	25470535	2	1	22	1	0	0	0	0	0	0	0	1	10467	1252	44	2		2	NINL	20	25470535	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13159	25470535	37554985	19430	21576											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													144	703					0	0	1	0	0	A	25507115	G	A	25507115	3	1	22	1	0	0	0	0	1	0	0	0	10467	1000	35	2	4131	2	NINL	20	25507115	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36580	25507115	37518405	19431	21577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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|ZNF337_ENST00000538750.1_Missense_Mutation_p.V429A					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													67	702					0	0	1	0	0	G	25656542	A	G	25656542	3	3	22	1	0	0	0	0	1	0	0	0	17910	159	6	3	877	3	ZNF337	20	25656542	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	149427	25656542	37368978	19432	21578											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Silent_p.F335F|ZNF337_ENST00000538750.1_Silent_p.F303F					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													9	520					0	0	1	0	0	A	25656919	G	A	25656919	2	1	22	1	0	0	0	0	0	0	0	1	17910	1049	37	1		1	ZNF337	20	25656919	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	377	25656919	37368601	19433	21579											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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|ZNF337_ENST00000538750.1_Missense_Mutation_p.H250Y					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													154	711					0	0	1	0	0	A	25657080	G	A	25657080	3	1	22	1	0	0	0	0	1	0	0	0	17910	1319	46	2	1415	2	ZNF337	20	25657080	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	25657080	37368440	19434	21580											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_153289.2	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													82	376					0	0	1	0	0	T	29965236	C	T	29965236	3	4	22	1	0	0	0	0	1	0	0	0	4434	768	27	1	190	1	DEFB119	20	29965236	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4308156	29965236	33060284	19435	21581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	547					1.51926e-22	1.72e-22	1	1	0	A	30064336	C	A	30064336	3	1	22	1	0	0	0	0	1	0	0	0	13274	739	26	2	90	2	REM1	20	30064336	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99100	30064336	32961184	19436	21582											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	241					4.10981e-09	4.31816e-09	1	1	0	A	30227779	C	A	30227779	2	1	22	1	0	0	0	0	0	0	0	1	3793	610	22	2		2	COX4I2	20	30227779	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163443	30227779	32797741	19437	21583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	193					0	0	1	0	0	C	30232619	A	C	30232619	3	2	22	1	0	0	0	0	1	0	0	0	3793	188	7	3	442	3	COX4I2	20	30232619	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4840	30232619	32792901	19438	21584											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	404					0	0	1	0	0	A	30371596	G	A	30371596	3	1	22	1	0	0	0	0	1	0	0	0	16493	1059	37	1	1323	1	TPX2	20	30371596	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138977	30371596	32653924	19439	21585											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													133	654					0	0	1	0	0	A	30388825	G	A	30388825	3	1	22	1	0	0	0	0	1	0	0	0	16493	1029	36	2	2248	2	TPX2	20	30388825	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17229	30388825	32636695	19440	21586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	35	865					0	0	1	0	0	A	30411332	G	A	30411332	2	1	22	1	0	0	0	0	0	0	0	1	10105	1165	41	2		2	MYLK2	20	30411332	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22507	30411332	32614188	19441	21587											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.N411T			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													202	1127					0	0	1	0	0	C	30418629	A	C	30418629	3	2	22	1	0	0	0	0	1	0	0	0	10105	43	2	3	1262	3	MYLK2	20	30418629	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7297	30418629	32606891	19442	21588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.A430S			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													158	748					5.21138e-58	6.5303e-58	1	1	0	T	30418685	G	T	30418685	3	4	22	1	0	0	0	0	1	0	0	0	10105	1203	42	2	1318	2	MYLK2	20	30418685	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56	30418685	32606835	19443	21589											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.V522I			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													70	306					0	0	1	0	0	A	30419645	G	A	30419645	3	1	22	1	0	0	0	0	1	0	0	0	10105	1145	40	1	1602	1	MYLK2	20	30419645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	960	30419645	32605875	19444	21590											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	188					0	0	1	0	0	T	30436230	C	T	30436230	3	4	22	1	0	0	0	0	1	0	0	0	4841	783	27	1		1	DUSP15	20	30436230	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16585	30436230	32589290	19445	21591											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398084.2_5'UTR|DUSP15_ENST00000398083.1_5'UTR|DUSP15_ENST00000339738.5_Missense_Mutation_p.A56T|DUSP15_ENST00000375966.4_Missense_Mutation_p.A53T|DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000486996.1_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													7	363					0	0	1	0	0	T	30452778	C	T	30452778	3	4	22	1	0	0	0	0	1	0	0	0	4841	768	27	1	557	1	DUSP15	20	30452778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16548	30452778	32572742	19446	21592											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375921.2_Missense_Mutation_p.R9H|TTLL9_ENST00000375922.4_Missense_Mutation_p.R9H|TTLL9_ENST00000310998.4_Missense_Mutation_p.R9H|TTLL9_ENST00000535842.1_Missense_Mutation_p.R59H|TTLL9_ENST00000375934.4_Missense_Mutation_p.R41H			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													9	273					0	0	1	0	0	A	30486338	G	A	30486338	3	1	22	1	0	0	0	0	1	0	0	0	16796	1087	38	1	186	1	TTLL9	20	30486338	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33560	30486338	32539182	19447	21593											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	243					0	0	1	0	0	T	30747903	C	T	30747903	2	4	22	1	0	0	0	0	0	0	0	1	16040	796	28	2		2	TM9SF4	20	30747903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	261565	30747903	32277617	19448	21594											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056153.2	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"								212	949					0	0	1	0	0	A	31021562	G	A	31021562	3	1	22	1	0	0	0	0	1	0	0	0	1065	1174	41	2	1613	2	ASXL1	20	31021562	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	273659	31021562	32003958	19449	21595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056153.2	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"								66	326					0	0	1	0	0	A	31024411	G	A	31024411	3	1	22	1	0	0	0	0	1	0	0	0	1065	1203	42	2	3952	2	ASXL1	20	31024411	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2849	31024411	32001109	19450	21596											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375623.4_Intron|DNMT3B_ENST00000443239.3_Missense_Mutation_p.N310T|DNMT3B_ENST00000456297.2_Missense_Mutation_p.N276T|DNMT3B_ENST00000344505.4_Missense_Mutation_p.N352T|DNMT3B_ENST00000201963.3_Missense_Mutation_p.N364T|DNMT3B_ENST00000348286.2_Missense_Mutation_p.N352T	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													57	244					0	0	1	0	0	C	31380565	A	C	31380565	3	2	22	1	0	0	0	0	1	0	0	0	4704	43	2	3	1125	3	DNMT3B	20	31380565	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	356154	31380565	31644955	19451	21597											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375623.4_3'UTR|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R511W|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R477W|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R553W|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R565W|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R553W	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													15	82					0	0	1	0	0	T	31387092	C	T	31387092	3	4	22	1	0	0	0	0	1	0	0	0	4704	759	27	1	1815	1	DNMT3B	20	31387092	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6527	31387092	31638428	19452	21598											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	386					0	0	1	0	0	A	31413783	G	A	31413783	3	1	22	1	0	0	0	0	1	0	0	0	9344	1058	37	1	52	1	MAPRE1	20	31413783	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26691	31413783	31611737	19453	21599											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	230					0	0	1	0	0	A	31424452	G	A	31424452	3	1	22	1	0	0	0	0	1	0	0	0	9344	1174	41	2	290	2	MAPRE1	20	31424452	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10669	31424452	31601068	19454	21600											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													165	704					0	0	1	0	0	A	31434492	G	A	31434492	2	1	22	1	0	0	0	0	0	0	0	1	9344	1161	41	2		2	MAPRE1	20	31434492	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10040	31434492	31591028	19455	21601											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000346416.2_Silent_p.L289L|CDK5RAP1_ENST00000544843.1_Silent_p.L289L|CDK5RAP1_ENST00000452723.3_Silent_p.L199L|CDK5RAP1_ENST00000339269.5_Silent_p.L289L			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													42	390					0	0	1	0	0	G	31973465	A	G	31973465	2	3	22	1	0	0	0	0	0	0	0	1	3167	1	1	3		3	CDK5RAP1	20	31973465	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	538973	31973465	31052055	19456	21602											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.R79Q|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R169Q			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													70	422					0	0	1	0	0	T	31979986	C	T	31979986	3	4	22	1	0	0	0	0	1	0	0	0	3167	652	23	1	1297	1	CDK5RAP1	20	31979986	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6521	31979986	31045534	19457	21603											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	340					2.72187e-29	3.17825e-29	1	1	0	A	32005695	C	A	32005695	3	1	22	1	0	0	0	0	1	0	0	0	14925	912	32	2	1010	2	SNTA1	20	32005695	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25709	32005695	31019825	19458	21604											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32199034C>T	ENST00000346541.3	+	4	877	c.340C>T	c.(340-342)Cga>Tga	p.R114*	CBFA2T2_ENST00000397798.2_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000342704.5_Nonsense_Mutation_p.R105*|CBFA2T2_ENST00000344201.3_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000375279.2_Nonsense_Mutation_p.R114*|CBFA2T2_ENST00000397800.1_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000359606.3_Nonsense_Mutation_p.R124*	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	114	TAFH.					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													126	536					0	0	1	0	0	T	32199034	C	T	32199034	4	4	22	1	0	0	0	0	0	1	0	0	2715	876	31	1	388	1	CBFA2T2	20	32199034	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193339	32199034	30826486	19459	21605											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32212656A>G	ENST00000346541.3	+	7	1343	c.806A>G	c.(805-807)cAc>cGc	p.H269R	CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.H260R|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.H269R|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.H240R|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.H279R	NM_005093.3	NP_005084.1	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													86	386					0	0	1	0	0	G	32212656	A	G	32212656	3	3	22	1	0	0	0	0	1	0	0	0	2715	159	6	3	866	3	CBFA2T2	20	32212656	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13622	32212656	30812864	19460	21606											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32212784C>A	ENST00000346541.3	+	7	1471	c.934C>A	c.(934-936)Cta>Ata	p.L312I	CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.L303I|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.L312I|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.L283I|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.L322I	NM_005093.3	NP_005084.1	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													58	221					4.60343e-24	5.25135e-24	1	1	0	A	32212784	C	A	32212784	3	1	22	1	0	0	0	0	1	0	0	0	2715	796	28	2	994	2	CBFA2T2	20	32212784	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128	32212784	30812736	19461	21607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32232319C>G	ENST00000346541.3	+	12	2219	c.1682C>G	c.(1681-1683)cCt>cGt	p.P561R	CBFA2T2_ENST00000342704.5_Missense_Mutation_p.P552R|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.P561R|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.P109R|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.P532R|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.P571R	NM_005093.3	NP_005084.1	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													110	428					0	0	1	0	0	G	32232319	C	G	32232319	3	3	22	1	0	0	0	0	1	0	0	0	2715	681	24	5	1762	5	CBFA2T2	20	32232319	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19535	32232319	30793201	19462	21608											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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													41	171					0	0	1	0	0	A	32333101	G	A	32333101	3	1	22	1	0	0	0	0	1	0	0	0	17914	1087	38	1	345	1	ZNF341	20	32333101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100782	32333101	30692419	19463	21609											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	417					0	0	1	0	0	T	32879233	C	T	32879233	3	4	22	1	0	0	0	0	1	0	0	0	406	536	19	1	772	1	AHCY	20	32879233	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	546132	32879233	30146287	19464	21610											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	165					5.43694e-19	6.05247e-19	1	1	0	T	32883326	G	T	32883326	3	4	22	1	0	0	0	0	1	0	0	0	406	991	35	2	1240	2	AHCY	20	32883326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4093	32883326	30142194	19465	21611											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535650.1_Missense_Mutation_p.R311Q|ITCH_ENST00000483727.1_3'UTR|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													28	107					0	0	1	0	0	A	33045246	G	A	33045246	3	1	22	1	0	0	0	0	1	0	0	0	7912	1058	37	1	1304	1	ITCH	20	33045246	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161920	33045246	29980274	19466	21612											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33057852G>A	ENST00000374864.4	+	15	1637		c.e15-1		ITCH_ENST00000535650.1_Splice_Site|ITCH_ENST00000483727.1_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													123	620					0	0	1	0	0	A	33057852	G	A	33057852	5	1	22	1	0	0	0	0	0	0	1	0	7912	956	33	2	1474	2	ITCH	20	33057852	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12606	33057852	29967668	19467	21613											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397709.1_Missense_Mutation_p.R70H|MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.R74H|MAP1LC3A_ENST00000476428.1_3'UTR			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													118	465					0	0	1	0	0	A	33147545	G	A	33147545	3	1	22	1	0	0	0	0	1	0	0	0	9280	1087	38	1	279	1	MAP1LC3A	20	33147545	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89693	33147545	29877975	19468	21614											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33296666G>A	ENST00000374810.3	+	3	512	c.124_splice	c.e3+1	p.P41_splice	TP53INP2_ENST00000374809.2_Splice_Site_p.P41_splice|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													39	154					0	0	1	0	0	A	33296666	G	A	33296666	5	1	22	1	0	0	0	0	0	0	1	0	16450	1130	39	1	125	1	TP53INP2	20	33296666	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149121	33296666	29728854	19469	21615											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	65					0	0	1	0	0	A	33298084	G	A	33298084	2	1	22	1	0	0	0	0	0	0	0	1	16450	962	34	2		2	TP53INP2	20	33298084	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1418	33298084	29727436	19470	21616											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	664					0	0	1	0	0	T	33330454	C	T	33330454	2	4	22	1	0	0	0	0	0	0	0	1	10280	755	27	1		1	NCOA6	20	33330454	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32370	33330454	29695066	19471	21617											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	822					0	0	1	0	0	A	33330933	G	A	33330933	3	1	22	1	0	0	0	0	1	0	0	0	10280	1174	41	2	3084	2	NCOA6	20	33330933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	479	33330933	29694587	19472	21618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	373					0	0	1	0	0	T	33345486	C	T	33345486	2	4	22	1	0	0	0	0	0	0	0	1	10280	796	28	2		2	NCOA6	20	33345486	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14553	33345486	29680034	19473	21619											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	107					0	0	1	0	0	A	33447341	G	A	33447341	3	1	22	1	0	0	0	0	1	0	0	0	6406	1057	37	1	1105	1	GGT7	20	33447341	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101855	33447341	29578179	19474	21620											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	146					1.06961e-07	1.11297e-07	1	1	0	T	33450737	G	T	33450737	3	4	22	1	0	0	0	0	1	0	0	0	6406	971	34	2	1603	2	GGT7	20	33450737	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3396	33450737	29574783	19475	21621											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000253382.5_Missense_Mutation_p.R442Q|ACSS2_ENST00000476922.1_Intron|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													66	368					0	0	1	0	0	A	33509141	G	A	33509141	3	1	22	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	19476	21622											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541098.1_Silent_p.L283L|GSS_ENST00000451957.2_Silent_p.L300L	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													236	1072					0	0	1	0	0	A	33517274	G	A	33517274	2	1	22	1	0	0	0	0	0	0	0	1	6870	962	34	2		2	GSS	20	33517274	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8133	33517274	29508246	19477	21623											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541098.1_Silent_p.G141G|GSS_ENST00000451957.2_Silent_p.G158G	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													54	194					1.10885e-35	1.32494e-35	1	1	0	T	33523406	G	T	33523406	2	4	22	1	0	0	0	0	0	0	0	1	6870	958	34	2		2	GSS	20	33523406	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6132	33523406	29502114	19478	21624											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	458					0	0	1	0	0	A	33565843	G	A	33565843	3	1	22	1	0	0	0	0	1	0	0	0	10088	1087	38	1	171	1	MYH7B	20	33565843	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42437	33565843	29459677	19479	21625											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	379					0	0	1	0	0	A	33567510	G	A	33567510	3	1	22	1	0	0	0	0	1	0	0	0	10088	1087	38	1	389	1	MYH7B	20	33567510	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1667	33567510	29458010	19480	21626											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	367					0	0	1	0	0	A	33575697	G	A	33575697	3	1	22	1	0	0	0	0	1	0	0	0	10088	1087	38	1	1584	1	MYH7B	20	33575697	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8187	33575697	29449823	19481	21627											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	299					6.31663e-08	6.57865e-08	1	1	0	T	33577604	G	T	33577604	3	4	22	1	0	0	0	0	1	0	0	0	10088	971	34	2	1845	2	MYH7B	20	33577604	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1907	33577604	29447916	19482	21628											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	333					0	0	1	0	0	A	33578604	G	A	33578604	3	1	22	1	0	0	0	0	1	0	0	0	10088	1377	48	2	2249	2	MYH7B	20	33578604	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1000	33578604	29446916	19483	21629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	292					0	0	1	0	0	A	33578879	G	A	33578879	3	1	22	1	0	0	0	0	1	0	0	0	10088	1087	38	1	2350	1	MYH7B	20	33578879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275	33578879	29446641	19484	21630											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	199					9.16793e-09	9.60025e-09	1	1	0	A	33582190	C	A	33582190	3	1	22	1	0	0	0	0	1	0	0	0	10088	680	24	2	2910	2	MYH7B	20	33582190	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3311	33582190	29443330	19485	21631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													219	986					0	0	1	0	0	A	33588098	G	A	33588098	3	1	22	1	0	0	0	0	1	0	0	0	10088	1087	38	1	5056	1	MYH7B	20	33588098	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5908	33588098	29437422	19486	21632											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000451813.1_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													41	89					0	0	1	0	0	A	33591414	G	A	33591414	2	1	22	1	0	0	0	0	0	0	0	1	16642	1136	40	1		1	TRPC4AP	20	33591414	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3316	33591414	29434106	19487	21633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374492.3_Missense_Mutation_p.D250N|EDEM2_ENST00000374491.2_Missense_Mutation_p.D213N|EDEM2_ENST00000541621.1_Missense_Mutation_p.D29N|EDEM2_ENST00000542871.1_5'UTR			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													28	834					0	0	1	0	0	T	33719541	C	T	33719541	3	4	22	1	0	0	0	0	1	0	0	0	4938	855	30	2	1008	2	EDEM2	20	33719541	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128127	33719541	29305979	19488	21634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374492.3_Missense_Mutation_p.S147F|EDEM2_ENST00000374491.2_Missense_Mutation_p.S110F|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000542871.1_Intron			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													55	755					0	0	1	0	0	A	33725733	G	A	33725733	3	1	22	1	0	0	0	0	1	0	0	0	4938	1174	41	2	1324	2	EDEM2	20	33725733	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6192	33725733	29299787	19489	21635											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_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													66	331					2.17656e-39	2.63193e-39	1	1	0	T	33834760	G	T	33834760	3	4	22	1	0	0	0	0	1	0	0	0	9710	1261	44	2	120	2	MMP24	20	33834760	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109027	33834760	29190760	19490	21636											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	381					1.64877e-56	2.06338e-56	1	1	0	A	33874450	C	A	33874450	3	1	22	1	0	0	0	0	1	0	0	0	5667	565	20	2	115	2	FAM83C	20	33874450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39690	33874450	29151070	19491	21637											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	587					0	0	1	0	0	A	33879692	G	A	33879692	3	1	22	1	0	0	0	0	1	0	0	0	5667	1377	48	2	1843	2	FAM83C	20	33879692	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5242	33879692	29145828	19492	21638											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	323					0	0	1	0	0	T	33879849	C	T	33879849	3	4	22	1	0	0	0	0	1	0	0	0	5667	652	23	1	2000	1	FAM83C	20	33879849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157	33879849	29145671	19493	21639											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	265					0	0	1	0	0	T	34025405	C	T	34025405	3	4	22	1	0	0	0	0	1	0	0	0	6358	623	22	2	1209	2	GDF5	20	34025405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145556	34025405	29000115	19494	21640											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	188					0	0	1	0	0	T	34061768	C	T	34061768	3	4	22	1	0	0	0	0	1	0	0	0	3274	768	27	1	1504	1	CEP250	20	34061768	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36363	34061768	28963752	19495	21641											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													130	445					0	0	1	0	0	A	34081331	G	A	34081331	3	1	22	1	0	0	0	0	1	0	0	0	3274	942	33	2	3043	2	CEP250	20	34081331	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19563	34081331	28944189	19496	21642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	308					1.4709e-25	1.68871e-25	1	1	0	T	34288758	G	T	34288758	3	4	22	1	0	0	0	0	1	0	0	0	13574	1232	43	2	176	2	ROMO1	20	34288758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	207427	34288758	28736762	19497	21643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407261.4_5'UTR|RBM39_ENST00000253363.6_Missense_Mutation_p.R80Q|RBM39_ENST00000528062.3_Missense_Mutation_p.R80Q	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													207	863					0	0	1	0	0	T	34319920	C	T	34319920	3	4	22	1	0	0	0	0	1	0	0	0	13185	884	31	1	1409	1	RBM39	20	34319920	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31162	34319920	28705600	19498	21644											
RBM39	9584	broad.mit.edu	37	chr20	34320047	34320047	+	Frame_Shift_Del	DEL	T	T	-													actacgacttctgctcttgcTttttttcctcctgagaagaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34320047delT	ENST00000361162.6	-	4	496	c.112delA	c.(112-114)gcfs	p.S38fs	RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000528062.3_Frame_Shift_Del_p.S38fs|RBM39_ENST00000253363.6_Frame_Shift_Del_p.S38fs	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	38					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)					CTGCTCTTGCTTTTTTTCCTC	0.398													8	663	---	---	---	---						-	34320047	T	-	34320047	7	5	22	1	0	1	0	1	0	0	0	0	13185	1609	56	0	1536	0	RBM39	20	34320047	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	127	34320047	28705473	19499	21645											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373941.1_Missense_Mutation_p.P415S|EPB41L1_ENST00000441639.1_Missense_Mutation_p.P353S|EPB41L1_ENST00000202028.5_Missense_Mutation_p.P353S|EPB41L1_ENST00000373946.3_Missense_Mutation_p.P384S|EPB41L1_ENST00000373950.2_Missense_Mutation_p.P318S	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													24	194					0	0	1	0	0	T	34778662	C	T	34778662	3	4	22	1	0	0	0	0	1	0	0	0	5180	507	18	2	1281	2	EPB41L1	20	34778662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	458615	34778662	28246858	19500	21646											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373941.1_Missense_Mutation_p.G463E|EPB41L1_ENST00000441639.1_Missense_Mutation_p.G401E|EPB41L1_ENST00000202028.5_Missense_Mutation_p.G401E|EPB41L1_ENST00000373946.3_Missense_Mutation_p.G432E|EPB41L1_ENST00000373950.2_Missense_Mutation_p.G366E	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													39	152					0	0	1	0	0	A	34782221	G	A	34782221	3	1	22	1	0	0	0	0	1	0	0	0	5180	1232	43	2	1430	2	EPB41L1	20	34782221	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3559	34782221	28243299	19501	21647											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000339266.5_Silent_p.S441S|DLGAP4_ENST00000373907.2_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)	25	156					0	0	1	0	0	T	35068238	C	T	35068238	2	4	22	1	0	0	0	0	0	0	0	1	4590	767	27	1		1	DLGAP4	20	35068238	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286017	35068238	27957282	19502	21648											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340491.4_Missense_Mutation_p.A146T|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000373907.2_Missense_Mutation_p.A685T|DLGAP4_ENST00000373913.3_Intron|DLGAP4_ENST00000401952.2_Intron	NM_001042486.2	NP_001035951.1	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													19	93					0	0	1	0	0	A	35128033	G	A	35128033	3	1	22	1	0	0	0	0	1	0	0	0	4590	1087	38	1	2198	1	DLGAP4	20	35128033	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59795	35128033	27897487	19503	21649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340491.4_Missense_Mutation_p.S186I|DLGAP4_ENST00000339266.5_Missense_Mutation_p.S725I|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000373907.2_Missense_Mutation_p.S725I|DLGAP4_ENST00000401952.2_Missense_Mutation_p.S722I			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													67	282					1.84395e-34	2.19361e-34	1	1	0	T	35128676	G	T	35128676	3	4	22	1	0	0	0	0	1	0	0	0	4590	971	34	2	2323	2	DLGAP4	20	35128676	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	643	35128676	27896844	19504	21650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340491.4_Missense_Mutation_p.R278W|DLGAP4_ENST00000339266.5_Missense_Mutation_p.R817W|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000373907.2_Missense_Mutation_p.R817W|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R814W			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													61	350					0	0	1	0	0	T	35128951	C	T	35128951	3	4	22	1	0	0	0	0	1	0	0	0	4590	759	27	1	2598	1	DLGAP4	20	35128951	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	275	35128951	27896569	19505	21651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.12_ENST00000433238.1_RNA|DLGAP4_ENST00000340491.4_Silent_p.F360F|DLGAP4_ENST00000339266.5_Silent_p.F899F|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000373907.2_Silent_p.F899F|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000401952.2_Silent_p.F896F			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													150	479					0	0	1	0	0	T	35154346	C	T	35154346	2	4	22	1	0	0	0	0	0	0	0	1	4590	883	31	1		1	DLGAP4	20	35154346	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25395	35154346	27871174	19506	21652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Silent_p.H68H|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													40	205					0	0	1	0	0	T	35177499	C	T	35177499	2	4	22	1	0	0	0	0	0	0	0	1	10102	506	18	2		2	MYL9	20	35177499	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23153	35177499	27848021	19507	21653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	163					1.96642e-18	2.182e-18	1	1	0	T	35547879	G	T	35547879	3	4	22	1	0	0	0	0	1	0	0	0	13880	942	33	2	1180	2	SAMHD1	20	35547879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	370380	35547879	27477641	19508	21654											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	313					0	0	1	0	0	T	35563450	C	T	35563450	3	4	22	1	0	0	0	0	1	0	0	0	13880	884	31	1	1441	1	SAMHD1	20	35563450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15571	35563450	27462070	19509	21655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	281					0	0	1	0	0	A	35563508	G	A	35563508	4	1	22	1	0	0	0	0	0	1	0	0	13880	1066	37	1	1499	1	SAMHD1	20	35563508	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58	35563508	27462012	19510	21656											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	349					0	0	1	0	0	G	35696435	T	G	35696435	3	3	22	1	0	0	0	0	1	0	0	0	13161	1841	64	3	2850	3	RBL1	20	35696435	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	132927	35696435	27329085	19511	21657											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358208.4_Missense_Mutation_p.D351N|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000373567.2_Missense_Mutation_p.D351N|SRC_ENST00000360723.4_Missense_Mutation_p.D357N|SRC_ENST00000373558.2_Missense_Mutation_p.D357N|SRC_ENST00000445403.1_Missense_Mutation_p.D351N	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													57	341					0	0	1	0	0	A	36030016	G	A	36030016	3	1	22	1	0	0	0	0	1	0	0	0	15190	1174	41	2	1081	2	SRC	20	36030016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	333581	36030016	26995504	19512	21658											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	499					0	0	1	0	0	A	36662454	G	A	36662454	2	1	22	1	0	0	0	0	0	0	0	1	13668	962	34	2		2	RPRD1B	20	36662454	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	632438	36662454	26363066	19513	21659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	521					0	0	1	0	0	T	36694492	C	T	36694492	3	4	22	1	0	0	0	0	1	0	0	0	13668	710	25	2	687	2	RPRD1B	20	36694492	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32038	36694492	26331028	19514	21660											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	225					0	0	1	0	0	T	36775176	C	T	36775176	3	4	22	1	0	0	0	0	1	0	0	0	15890	652	23	1	1325	1	TGM2	20	36775176	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80684	36775176	26250344	19515	21661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	514					2.23348e-06	2.30073e-06	1	1	0	T	36870077	G	T	36870077	2	4	22	1	0	0	0	0	0	0	0	1	8299	1335	47	2		2	KIAA1755	20	36870077	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94901	36870077	26155443	19516	21662											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	514					0	0	1	0	0	C	36982727	A	C	36982727	3	2	22	1	0	0	0	0	1	0	0	0	8690	217	8	3	426	3	LBP	20	36982727	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112650	36982727	26042793	19517	21663											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397040.1_Missense_Mutation_p.F571L|RALGAPB_ENST00000397042.3_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													167	775					3.01732e-80	3.85853e-80	1	1	0	A	37153514	C	A	37153514	3	1	22	1	0	0	0	0	1	0	0	0	13067	912	32	2	1751	2	RALGAPB	20	37153514	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170787	37153514	25872006	19518	21664											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	575					0	0	1	0	0	T	37394145	C	T	37394145	3	4	22	1	0	0	0	0	1	0	0	0	214	652	23	1	1299	1	ACTR5	20	37394145	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	240631	37394145	25631375	19519	21665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	185					1.96292e-10	2.08093e-10	1	1	0	T	37524228	G	T	37524228	3	4	22	1	0	0	0	0	1	0	0	0	12415	991	35	2	352	2	PPP1R16B	20	37524228	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	130083	37524228	25501292	19520	21666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													166	825					0	0	1	0	0	T	37546928	C	T	37546928	2	4	22	1	0	0	0	0	0	0	0	1	12415	535	19	1		1	PPP1R16B	20	37546928	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22700	37546928	25478592	19521	21667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	424					0	0	1	0	0	A	37580769	G	A	37580769	3	1	22	1	0	0	0	0	1	0	0	0	5668	1174	41	2	1468	2	FAM83D	20	37580769	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33841	37580769	25444751	19522	21668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461641.1_3'UTR|PLCG1_ENST00000373271.1_Missense_Mutation_p.A1189T|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													101	425					0	0	1	0	0	A	39802571	G	A	39802571	3	1	22	1	0	0	0	0	1	0	0	0	12083	971	34	2	3683	2	PLCG1	20	39802571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2221802	39802571	23222949	19523	21669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.T672I|ZHX3_ENST00000544979.2_Missense_Mutation_p.T672I|ZHX3_ENST00000560361.1_Missense_Mutation_p.T672I|ZHX3_ENST00000559234.1_Missense_Mutation_p.T672I|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_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													94	948					0	0	1	0	0	A	39831542	G	A	39831542	3	1	22	1	0	0	0	0	1	0	0	0	17735	1261	44	2	863	2	ZHX3	20	39831542	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28971	39831542	23193978	19524	21670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557816.1_Missense_Mutation_p.A53S|ZHX3_ENST00000432768.2_Missense_Mutation_p.A53S|ZHX3_ENST00000544979.2_Missense_Mutation_p.A53S|ZHX3_ENST00000560361.1_Missense_Mutation_p.A53S|ZHX3_ENST00000559234.1_Missense_Mutation_p.A53S|ZHX3_ENST00000558993.1_Missense_Mutation_p.A53S|ZHX3_ENST00000540170.1_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													95	459					1.2711e-46	1.5624e-46	1	1	0	A	39833400	C	A	39833400	3	1	22	1	0	0	0	0	1	0	0	0	17735	797	28	2	2721	2	ZHX3	20	39833400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1858	39833400	23192120	19525	21671											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	700					0	0	1	0	0	A	40033726	G	A	40033726	3	1	22	1	0	0	0	0	1	0	0	0	3351	1087	38	1	496	1	CHD6	20	40033726	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200326	40033726	22991794	19526	21672											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	509					0	0	1	0	0	A	40045244	G	A	40045244	3	1	22	1	0	0	0	0	1	0	0	0	3351	1087	38	1	1697	1	CHD6	20	40045244	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11518	40045244	22980276	19527	21673											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	460					0	0	1	0	0	A	40050062	G	A	40050062	3	1	22	1	0	0	0	0	1	0	0	0	3351	1294	45	2	2962	2	CHD6	20	40050062	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4818	40050062	22975458	19528	21674											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													313	1332					5.90345e-71	7.50243e-71	1	1	0	T	40052176	G	T	40052176	3	4	22	1	0	0	0	0	1	0	0	0	3351	1203	42	2	3668	2	CHD6	20	40052176	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2114	40052176	22973344	19529	21675											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	244					0	0	1	0	0	A	40068746	G	A	40068746	4	1	22	1	0	0	0	0	0	1	0	0	3351	1095	38	1	4294	1	CHD6	20	40068746	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16570	40068746	22956774	19530	21676											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	426					0	0	1	0	0	A	40081484	G	A	40081484	2	1	22	1	0	0	0	0	0	0	0	1	3351	1078	38	1		1	CHD6	20	40081484	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12738	40081484	22944036	19531	21677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	150					0	0	1	0	0	G	40111947	A	G	40111947	5	3	22	1	0	0	0	0	0	0	1	0	3351	173	6	3	5765	3	CHD6	20	40111947	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30463	40111947	22913573	19532	21678											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	730					0	0	1	0	0	C	40118638	T	C	40118638	3	2	22	1	0	0	0	0	1	0	0	0	3351	1551	54	3	6791	3	CHD6	20	40118638	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6691	40118638	22906882	19533	21679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40735471G>A	ENST00000373198.3	-	25	3646	c.3411C>T	c.(3409-3411)tgC>tgT	p.C1137C	PTPRT_ENST00000373193.3_Silent_p.C1118C|PTPRT_ENST00000373201.1_Silent_p.C1105C|PTPRT_ENST00000373187.1_Silent_p.C1115C|PTPRT_ENST00000373190.1_Silent_p.C1114C|PTPRT_ENST00000373184.1_Silent_p.C1125C|PTPRT_ENST00000356100.2_Silent_p.C1124C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1115	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													115	480					0	0	1	0	0	A	40735471	G	A	40735471	2	1	22	1	0	0	0	0	0	0	0	1	12864	1079	38	1		1	PTPRT	20	40735471	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	616833	40735471	22290049	19534	21680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40739056G>A	ENST00000373198.3	-	24	3472	c.3237C>T	c.(3235-3237)tgC>tgT	p.C1079C	PTPRT_ENST00000373193.3_Silent_p.C1060C|PTPRT_ENST00000373201.1_Silent_p.C1047C|PTPRT_ENST00000373187.1_Silent_p.C1057C|PTPRT_ENST00000373190.1_Silent_p.C1056C|PTPRT_ENST00000373184.1_Silent_p.C1067C|PTPRT_ENST00000356100.2_Silent_p.C1066C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1057	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													49	283					0	0	1	0	0	A	40739056	G	A	40739056	2	1	22	1	0	0	0	0	0	0	0	1	12864	963	34	2		2	PTPRT	20	40739056	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3585	40739056	22286464	19535	21681											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40748583G>A	ENST00000373198.3	-	21	3177	c.2942C>T	c.(2941-2943)gCg>gTg	p.A981V	PTPRT_ENST00000373193.3_Missense_Mutation_p.A962V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A949V|PTPRT_ENST00000373187.1_Missense_Mutation_p.A959V|PTPRT_ENST00000373190.1_Missense_Mutation_p.A958V|PTPRT_ENST00000373184.1_Missense_Mutation_p.A949V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A968V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	959	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													93	449					0	0	1	0	0	A	40748583	G	A	40748583	3	1	22	1	0	0	0	0	1	0	0	0	12864	1087	38	1	1497	1	PTPRT	20	40748583	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9527	40748583	22276937	19536	21682											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40827933G>A	ENST00000373198.3	-	17	2739	c.2504C>T	c.(2503-2505)gCc>gTc	p.A835V	PTPRT_ENST00000373193.3_Missense_Mutation_p.A816V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A803V|PTPRT_ENST00000373187.1_Missense_Mutation_p.A813V|PTPRT_ENST00000373190.1_Missense_Mutation_p.A813V|PTPRT_ENST00000373184.1_Missense_Mutation_p.A803V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A822V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	813					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													180	1517					0	0	1	0	0	A	40827933	G	A	40827933	3	1	22	1	0	0	0	0	1	0	0	0	12864	1203	42	2	1951	2	PTPRT	20	40827933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79350	40827933	22197587	19537	21683											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40827959G>A	ENST00000373198.3	-	17	2713	c.2478C>T	c.(2476-2478)gcC>gcT	p.A826A	PTPRT_ENST00000373193.3_Silent_p.A807A|PTPRT_ENST00000373201.1_Silent_p.A794A|PTPRT_ENST00000373187.1_Silent_p.A804A|PTPRT_ENST00000373190.1_Silent_p.A804A|PTPRT_ENST00000373184.1_Silent_p.A794A|PTPRT_ENST00000356100.2_Silent_p.A813A	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)				TGGGTTTGTCGGCAGAGGCCA	0.557													273	1083					0	0	1	0	0	A	40827959	G	A	40827959	2	1	22	1	0	0	0	0	0	0	0	1	12864	1103	39	1		1	PTPRT	20	40827959	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26	40827959	22197561	19538	21684											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40980807G>A	ENST00000373198.3	-	10	1914	c.1679C>T	c.(1678-1680)aCc>aTc	p.T560I	PTPRT_ENST00000373193.3_Missense_Mutation_p.T560I|PTPRT_ENST00000373201.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373187.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373190.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373184.1_Missense_Mutation_p.T560I|PTPRT_ENST00000356100.2_Missense_Mutation_p.T560I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	560	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													87	374					0	0	1	0	0	A	40980807	G	A	40980807	3	1	22	1	0	0	0	0	1	0	0	0	12864	1261	44	2	2795	2	PTPRT	20	40980807	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152848	40980807	22044713	19539	21685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:41420011C>T	ENST00000373198.3	-	3	545	c.310G>A	c.(310-312)Gac>Aac	p.D104N	PTPRT_ENST00000373193.3_Missense_Mutation_p.D104N|PTPRT_ENST00000373201.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373187.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373190.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373184.1_Missense_Mutation_p.D104N|PTPRT_ENST00000356100.2_Missense_Mutation_p.D104N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	104	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													56	224					0	0	1	0	0	T	41420011	C	T	41420011	3	4	22	1	0	0	0	0	1	0	0	0	12864	884	31	1	4192	1	PTPRT	20	41420011	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	439204	41420011	21605509	19540	21686											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000423407.3_Silent_p.L305L|SGK2_ENST00000373092.3_Silent_p.L305L|SGK2_ENST00000426287.1_Silent_p.L331L|SGK2_ENST00000373077.1_Silent_p.L304L|SGK2_ENST00000341458.4_Silent_p.L365L			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													48	251					0	0	1	0	0	T	42208675	C	T	42208675	2	4	22	1	0	0	0	0	0	0	0	1	14263	796	28	2		2	SGK2	20	42208675	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	788664	42208675	20816845	19541	21687											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	175					0	0	1	0	0	A	42233661	G	A	42233661	3	1	22	1	0	0	0	0	1	0	0	0	7605	1001	35	2	451	2	IFT52	20	42233661	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24986	42233661	20791859	19542	21688											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	177					0	0	1	0	0	T	42328479	C	T	42328479	3	4	22	1	0	0	0	0	1	0	0	0	10058	507	18	2	772	2	MYBL2	20	42328479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94818	42328479	20697041	19543	21689											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	88					0	0	1	0	0	A	42340139	G	A	42340139	2	1	22	1	0	0	0	0	0	0	0	1	10058	1074	38	1		1	MYBL2	20	42340139	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11660	42340139	20685381	19544	21690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372999.1_Silent_p.I237I|TOX2_ENST00000423191.1_Silent_p.I237I|TOX2_ENST00000341197.3_Silent_p.I279I|TOX2_ENST00000435864.2_Silent_p.I157I	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													45	168					0	0	1	0	0	T	42683124	C	T	42683124	2	4	22	1	0	0	0	0	0	0	0	1	16439	874	31	1		1	TOX2	20	42683124	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	342985	42683124	20342396	19545	21691											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372999.1_Nonsense_Mutation_p.Q251*|TOX2_ENST00000423191.1_Nonsense_Mutation_p.Q251*|TOX2_ENST00000341197.3_Nonsense_Mutation_p.Q293*|TOX2_ENST00000435864.2_Nonsense_Mutation_p.Q171*	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													27	106					0	0	1	0	0	T	42683164	C	T	42683164	4	4	22	1	0	0	0	0	0	1	0	0	16439	711	25	2	1025	2	TOX2	20	42683164	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40	42683164	20342356	19546	21692											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372999.1_Silent_p.H369H|TOX2_ENST00000423191.1_Silent_p.H369H|TOX2_ENST00000341197.3_Silent_p.H411H|TOX2_ENST00000435864.2_Silent_p.H289H	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													53	232					0	0	1	0	0	T	42694624	C	T	42694624	2	4	22	1	0	0	0	0	0	0	0	1	16439	535	19	1		1	TOX2	20	42694624	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11460	42694624	20330896	19547	21693											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372999.1_Missense_Mutation_p.N431S|TOX2_ENST00000423191.1_Missense_Mutation_p.N431S|TOX2_ENST00000341197.3_Missense_Mutation_p.N473S|TOX2_ENST00000435864.2_Missense_Mutation_p.N351S	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													132	619					0	0	1	0	0	G	42695431	A	G	42695431	3	3	22	1	0	0	0	0	1	0	0	0	16439	43	2	3	1578	3	TOX2	20	42695431	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	807	42695431	20330089	19548	21694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	187					0	0	1	0	0	T	42744440	C	T	42744440	2	4	22	1	0	0	0	0	0	0	0	1	8005	796	28	2		2	JPH2	20	42744440	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49009	42744440	20281080	19549	21695											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	75					0	0	1	0	0	A	42788611	G	A	42788611	2	1	22	1	0	0	0	0	0	0	0	1	8005	1074	38	1		1	JPH2	20	42788611	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44171	42788611	20236909	19550	21696											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													160	543					0	0	1	0	0	A	42907813	T	A	42907813	3	1	22	1	0	0	0	0	1	0	0	0	6349	1667	58	5	999	5	GDAP1L1	20	42907813	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	119202	42907813	20117707	19551	21697											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	361					1.40369e-38	1.69297e-38	1	1	0	A	42935305	C	A	42935305	3	1	22	1	0	0	0	0	1	0	0	0	5932	797	28	2	43	2	FITM2	20	42935305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27492	42935305	20090215	19552	21698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	279					0	0	1	0	0	C	42935595	T	C	42935595	2	2	22	1	0	0	0	0	0	0	0	1	5932	1567	55	3		3	FITM2	20	42935595	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	290	42935595	20089925	19553	21699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	214					0	0	1	0	0	A	43117903	G	A	43117903	5	1	22	1	0	0	0	0	0	0	1	0	16799	1043	36	2	764	2	TTPAL	20	43117903	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	182308	43117903	19907617	19554	21700											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	154					0	0	1	0	0	A	43133515	G	A	43133515	2	1	22	1	0	0	0	0	0	0	0	1	14135	1103	39	1		1	SERINC3	20	43133515	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15612	43133515	19892005	19555	21701											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	369					0	0	1	0	0	G	43135535	A	G	43135535	3	3	22	1	0	0	0	0	1	0	0	0	14135	246	9	3	725	3	SERINC3	20	43135535	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2020	43135535	19889985	19556	21702											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000190983.4_Silent_p.P132P|WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000445420.1_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													19	61					0	0	1	0	0	A	43353497	G	A	43353497	2	1	22	1	0	0	0	0	0	0	0	1	17433	1074	38	1		1	WISP2	20	43353497	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217962	43353497	19672023	19557	21703											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	479					0	0	1	0	0	T	43386371	C	T	43386371	3	4	22	1	0	0	0	0	1	0	0	0	13422	864	30	2	430	2	RIMS4	20	43386371	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32874	43386371	19639149	19558	21704											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	383					0	0	1	0	0	T	43530459	C	T	43530459	2	4	22	1	0	0	0	0	0	0	0	1	17561	903	32	2		2	YWHAB	20	43530459	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144088	43530459	19495061	19559	21705											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537323.1_3'UTR|PABPC1L_ENST00000217073.2_Missense_Mutation_p.T474M|PABPC1L_ENST00000255136.3_Missense_Mutation_p.T474M|PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000217075.2_Missense_Mutation_p.T28M|PABPC1L_ENST00000372819.1_Missense_Mutation_p.T28M			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													4	63					0	0	1	0	0	T	43561803	C	T	43561803	3	4	22	1	0	0	0	0	1	0	0	0	11411	536	19	1	1459	1	PABPC1L	20	43561803	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31344	43561803	19463717	19560	21706											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	257					2.84144e-21	3.19776e-21	1	1	0	A	43577463	C	A	43577463	3	1	22	1	0	0	0	0	1	0	0	0	16417	796	28	2	335	2	TOMM34	20	43577463	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15660	43577463	19448057	19561	21707											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	58					0	0	1	0	0	T	43727300	C	T	43727300	3	4	22	1	0	0	0	0	1	0	0	0	8132	739	26	2	1475	2	KCNS1	20	43727300	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149837	43727300	19298220	19562	21708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372754.1_Missense_Mutation_p.L115M|MATN4_ENST00000372756.1_Missense_Mutation_p.L115M|MATN4_ENST00000353917.5_Missense_Mutation_p.L115M|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.L115M|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000360607.5_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													26	87					1.42536e-11	1.52187e-11	1	1	0	T	43933168	G	T	43933168	3	4	22	1	0	0	0	0	1	0	0	0	9386	1020	36	2	1434	2	MATN4	20	43933168	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205868	43933168	19092352	19563	21709											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_014276.2	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													49	357					0	0	1	0	0	T	43944880	C	T	43944880	2	4	22	1	0	0	0	0	0	0	0	1	13214	805	28	2		2	RBPJL	20	43944880	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11712	43944880	19080640	19564	21710											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								74	282					2.09793e-52	2.60941e-52	1	1	0	A	43959025	C	A	43959025	3	1	22	1	0	0	0	0	1	0	0	0	14008	912	32	2	178	2	SDC4	20	43959025	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14145	43959025	19066495	19565	21711											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								38	182					1.04594e-18	1.16214e-18	1	1	0	T	43959167	G	T	43959167	3	4	22	1	0	0	0	0	1	0	0	0	14008	942	33	2	320	2	SDC4	20	43959167	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	142	43959167	19066353	19566	21712											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357275.2_Missense_Mutation_p.R15H|DBNDD2_ENST00000372723.3_Missense_Mutation_p.R15H|DBNDD2_ENST00000372717.1_Missense_Mutation_p.R15H|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000360981.4_Missense_Mutation_p.R15H|DBNDD2_ENST00000372710.3_Missense_Mutation_p.R117H|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000372720.3_Missense_Mutation_p.R113H|DBNDD2_ENST00000372722.3_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													110	471					0	0	1	0	0	A	44037151	G	A	44037151	3	1	22	1	0	0	0	0	1	0	0	0	4278	1087	38	1	46	1	DBNDD2	20	44037151	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77984	44037151	18988369	19567	21713											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	WFDC10B_ENST00000330523.5_5'UTR|WFDC13_ENST00000305479.2_Intron	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													17	931					8.28177e-16	9.06825e-16	1	1	0	A	44333605	C	A	44333605	3	1	22	1	0	0	0	0	1	0	0	0	17408	797	28	2	350	2	WFDC10B	20	44333605	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	296454	44333605	18691915	19568	21714											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372630.2_Intron|WFDC3_ENST00000481847.1_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													53	206					0	0	1	0	0	A	44405742	G	A	44405742	2	1	22	1	0	0	0	0	0	0	0	1	17413	1190	42	2		2	WFDC3	20	44405742	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72137	44405742	18619778	19569	21715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44430041C>T	ENST00000372622.3	+	6	510	c.441_splice	c.e6-1	p.R148_splice		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													89	415					0	0	1	0	0	T	44430041	C	T	44430041	5	4	22	1	0	0	0	0	0	0	1	0	4708	782	27	1	464	1	DNTTIP1	20	44430041	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24299	44430041	18595479	19570	21716											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	350					4.01556e-35	4.78946e-35	1	1	0	A	44452970	C	A	44452970	3	1	22	1	0	0	0	0	1	0	0	0	16385	797	28	2	219	2	TNNC2	20	44452970	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22929	44452970	18572550	19571	21717											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491381.1_Missense_Mutation_p.R113W|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Missense_Mutation_p.R113W|SNX21_ENST00000372541.1_Missense_Mutation_p.R104W			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													110	544					0	0	1	0	0	T	44463645	C	T	44463645	3	4	22	1	0	0	0	0	1	0	0	0	14947	759	27	1	347	1	SNX21	20	44463645	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10675	44463645	18561875	19572	21718											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	222					0	0	1	0	0	A	44472353	G	A	44472353	2	1	22	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	19573	21719											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	415					0	0	1	0	0	A	44519145	G	A	44519145	2	1	22	1	0	0	0	0	0	0	0	1	10393	1306	46	2		2	NEURL2	20	44519145	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46792	44519145	18506375	19574	21720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTSA_ENST00000354880.5_Silent_p.L203L|CTSA_ENST00000372459.2_Silent_p.L202L|CTSA_ENST00000191018.5_Silent_p.L202L|RP3-337O18.9_ENST00000607703.1_RNA	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													45	227					0	0	1	0	0	T	44521862	C	T	44521862	2	4	22	1	0	0	0	0	0	0	0	1	4053	796	28	2		2	CTSA	20	44521862	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2717	44521862	18503658	19575	21721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372420.1_Silent_p.V357V|PLTP_ENST00000372431.3_Silent_p.V445V|PLTP_ENST00000542937.1_Silent_p.V465V|PLTP_ENST00000420868.2_Silent_p.V350V			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													70	346					0	0	1	0	0	T	44528125	C	T	44528125	2	4	22	1	0	0	0	0	0	0	0	1	12162	697	25	2		2	PLTP	20	44528125	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6263	44528125	18497395	19576	21722											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	244					0	0	1	0	0	T	44574362	C	T	44574362	3	4	22	1	0	0	0	0	1	0	0	0	11627	739	26	2	1219	2	PCIF1	20	44574362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46237	44574362	18451158	19577	21723											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	151					0	0	1	0	0	A	44582471	G	A	44582471	2	1	22	1	0	0	0	0	0	0	0	1	17909	1074	38	1		1	ZNF335	20	44582471	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8109	44582471	18443049	19578	21724											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	210					3.90053e-15	4.25374e-15	1	1	0	A	44588995	C	A	44588995	3	1	22	1	0	0	0	0	1	0	0	0	17909	564	20	2	2216	2	ZNF335	20	44588995	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6524	44588995	18436525	19579	21725											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	286					3.69857e-22	4.18031e-22	1	1	0	T	44592534	G	T	44592534	3	4	22	1	0	0	0	0	1	0	0	0	17909	991	35	2	2914	2	ZNF335	20	44592534	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3539	44592534	18432986	19580	21726											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	79					3.62473e-10	3.83521e-10	1	1	0	A	44599953	C	A	44599953	4	1	22	1	0	0	0	0	0	1	0	0	17909	922	32	2	4039	2	ZNF335	20	44599953	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7419	44599953	18425567	19581	21727											
MMP9	4318	broad.mit.edu	37	chr20	44641175	44641176	+	Frame_Shift_Ins	INS	-	-	C													tgtaccgcttcactgaggggINSccccccttgcataaggacga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44641175_44641176insC	ENST00000372330.3	+	8	1303_1304	c.1284_1285insC	c.(1282-1287)ggccccfs	p.GP428fs		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	428					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)	TCACTGAGGGGCCCCCCTTGCA	0.629													79	433	---	---	---	---						C	44641176	-	C	44641175	7	5	22	1	0	1	1	0	0	0	0	0	9718	1190	42	0	1314	0	MMP9	20	44641175	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	41222	44641175	18384345	19582	21728											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	348					0	0	1	0	0	A	44644913	G	A	44644913	3	1	22	1	0	0	0	0	1	0	0	0	9718	1087	38	1	2080	1	MMP9	20	44644913	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3738	44644913	18380607	19583	21729											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44669988G>A	ENST00000454036.1	+	8	1020	c.944G>A	c.(943-945)cGc>cAc	p.R315H	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.R292H	NM_001134771.1	NP_001128243.1	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													57	265					0	0	1	0	0	A	44669988	G	A	44669988	3	1	22	1	0	0	0	0	1	0	0	0	14441	1087	38	1	1030	1	SLC12A5	20	44669988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25075	44669988	18355532	19584	21730											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44671804G>A	ENST00000454036.1	+	9	1224	c.1148G>A	c.(1147-1149)aGc>aAc	p.S383N	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.S360N	NM_001134771.1	NP_001128243.1	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													16	1076					0	0	1	0	0	A	44671804	G	A	44671804	3	1	22	1	0	0	0	0	1	0	0	0	14441	971	34	2	1238	2	SLC12A5	20	44671804	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1816	44671804	18353716	19585	21731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44671916C>A	ENST00000454036.1	+	9	1336	c.1260C>A	c.(1258-1260)acC>acA	p.T420T	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Silent_p.T397T	NM_001134771.1	NP_001128243.1	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													232	1148					2.64144e-59	3.31638e-59	1	1	0	A	44671916	C	A	44671916	2	1	22	1	0	0	0	0	0	0	0	1	14441	668	24	2		2	SLC12A5	20	44671916	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112	44671916	18353604	19586	21732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44680390G>A	ENST00000454036.1	+	18	2403	c.2327G>A	c.(2326-2328)gGc>gAc	p.G776D	SLC12A5_ENST00000243964.3_Missense_Mutation_p.G753D	NM_001134771.1	NP_001128243.1	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													22	553					0	0	1	0	0	A	44680390	G	A	44680390	3	1	22	1	0	0	0	0	1	0	0	0	14441	1203	42	2	2453	2	SLC12A5	20	44680390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8474	44680390	18345130	19587	21733											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	339					4.68919e-08	4.88816e-08	1	1	0	T	44691163	G	T	44691163	3	4	22	1	0	0	0	0	1	0	0	0	10279	1357	47	2	227	2	NCOA5	20	44691163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10773	44691163	18334357	19588	21734											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	254					0	0	1	0	0	A	44692047	G	A	44692047	4	1	22	1	0	0	0	0	0	1	0	0	10279	1095	38	1	645	1	NCOA5	20	44692047	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	884	44692047	18333473	19589	21735											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													138	572					0	0	1	0	0	A	44699120	G	A	44699120	4	1	22	1	0	0	0	0	0	1	0	0	10279	1066	37	1	1669	1	NCOA5	20	44699120	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7073	44699120	18326400	19590	21736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372276.3_Silent_p.G192G|CD40_ENST00000489304.1_3'UTR	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)	15	521					0	0	1	0	0	C	44756855	T	C	44756855	3	2	22	1	0	0	0	0	1	0	0	0	3037	1667	58	3	664	3	CD40	20	44756855	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	57735	44756855	18268665	19591	21737											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	266					0	0	1	0	0	C	44803650	T	C	44803650	3	2	22	1	0	0	0	0	1	0	0	0	3129	1783	62	3	508	3	CDH22	20	44803650	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46795	44803650	18221870	19592	21738											
CDH22	64405	broad.mit.edu	37	chr20	44815292	44815292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccaggcggaaatagaagCggtgcccgccttggggctcg	16	12	0	1	rs117065621	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44815292C>T	ENST00000372262.3	-	9	1998	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	CDH22_ENST00000537909.1_Missense_Mutation_p.R533H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	533	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)				GAAATAGAAGCGGTGCCCGCC	0.587													61	244					0	0	1	0	0	T	44815292	C	T	44815292	3	4	22	1	0	0	0	0	1	0	0	0	3129	768	27	1	900	1	CDH22	20	44815292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11642	44815292	18210228	19593	21739											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	231					0	0	1	0	0	A	44815312	G	A	44815312	2	1	22	1	0	0	0	0	0	0	0	1	3129	1136	40	1		1	CDH22	20	44815312	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	44815312	18210208	19594	21740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	664					0	0	1	0	0	T	44815474	C	T	44815474	2	4	22	1	0	0	0	0	0	0	0	1	3129	796	28	2		2	CDH22	20	44815474	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	162	44815474	18210046	19595	21741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	130					0.00116845	0.00118049	1	1	0	T	44828116	G	T	44828116	3	4	22	1	0	0	0	0	1	0	0	0	3129	962	34	2	1137	2	CDH22	20	44828116	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12642	44828116	18197404	19596	21742											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.P278P	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													81	386					0	0	1	0	0	T	44845469	C	T	44845469	2	4	22	1	0	0	0	0	0	0	0	1	3129	755	27	1		1	CDH22	20	44845469	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17353	44845469	18180051	19597	21743											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352077.2_Missense_Mutation_p.S42L|ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Missense_Mutation_p.S42L|ELMO2_ENST00000445496.2_5'UTR|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													162	722					0	0	1	0	0	A	45022235	G	A	45022235	3	1	22	1	0	0	0	0	1	0	0	0	5094	1059	37	1	2109	1	ELMO2	20	45022235	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	176766	45022235	18003285	19598	21744											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	170					0	0	1	0	0	G	45131661	T	G	45131661	3	3	22	1	0	0	0	0	1	0	0	0	17908	1841	64	3	1729	3	ZNF334	20	45131661	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	109426	45131661	17893859	19599	21745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000290317.5_Silent_p.L511L|SLC13A3_ENST00000435032.1_Silent_p.L143L|SLC13A3_ENST00000472148.1_Silent_p.L476L|SLC13A3_ENST00000495082.1_Silent_p.L511L|SLC13A3_ENST00000413164.2_Silent_p.L508L|SLC13A3_ENST00000396360.1_Silent_p.L476L	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													96	549					0	0	1	0	0	T	45188796	C	T	45188796	2	4	22	1	0	0	0	0	0	0	0	1	14448	697	25	2		2	SLC13A3	20	45188796	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57135	45188796	17836724	19600	21746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000290317.5_Silent_p.V468V|SLC13A3_ENST00000435032.1_Silent_p.V100V|SLC13A3_ENST00000472148.1_Silent_p.V433V|SLC13A3_ENST00000495082.1_Silent_p.V468V|SLC13A3_ENST00000413164.2_Silent_p.V465V|SLC13A3_ENST00000396360.1_Silent_p.V433V	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													35	136					0	0	1	0	0	A	45192140	G	A	45192140	2	1	22	1	0	0	0	0	0	0	0	1	14448	1045	37	1		1	SLC13A3	20	45192140	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3344	45192140	17833380	19601	21747											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000290317.5_Missense_Mutation_p.P290H|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000472148.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000495082.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000413164.2_Missense_Mutation_p.P287H|SLC13A3_ENST00000396360.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000372121.1_Missense_Mutation_p.P287H	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													11	502					3.86212e-05	3.93988e-05	1	1	0	T	45217805	G	T	45217805	3	4	22	1	0	0	0	0	1	0	0	0	14448	1232	43	2	826	2	SLC13A3	20	45217805	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25665	45217805	17807715	19602	21748											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	236					0	0	1	0	0	T	45353838	C	T	45353838	3	4	22	1	0	0	0	0	1	0	0	0	14594	797	28	2	169	2	SLC2A10	20	45353838	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136033	45353838	17671682	19603	21749											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	288					0	0	1	0	0	A	45354819	G	A	45354819	3	1	22	1	0	0	0	0	1	0	0	0	14594	942	33	2	1150	2	SLC2A10	20	45354819	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	981	45354819	17670701	19604	21750											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357410.3_Missense_Mutation_p.A91V|EYA2_ENST00000317304.6_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													46	267					0	0	1	0	0	T	45633697	C	T	45633697	3	4	22	1	0	0	0	0	1	0	0	0	5357	710	25	2	282	2	EYA2	20	45633697	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	278878	45633697	17391823	19605	21751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45725724C>T	ENST00000327619.5	+	9	1179	c.804_splice	c.e9-1	p.R269_splice	EYA2_ENST00000357410.3_Splice_Site_p.R269_splice|EYA2_ENST00000317304.6_Splice_Site_p.R269_splice	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													12	695					0	0	1	0	0	T	45725724	C	T	45725724	5	4	22	1	0	0	0	0	0	0	1	0	5357	782	27	1	835	1	EYA2	20	45725724	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92027	45725724	17299796	19606	21752											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357410.3_Missense_Mutation_p.A381T|EYA2_ENST00000317304.6_Missense_Mutation_p.A351T	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													84	411					0	0	1	0	0	A	45801458	G	A	45801458	3	1	22	1	0	0	0	0	1	0	0	0	5357	1203	42	2	1183	2	EYA2	20	45801458	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75734	45801458	17224062	19607	21753											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446994.2_Silent_p.T1000T|ZMYND8_ENST00000461685.1_Silent_p.T1083T|ZMYND8_ENST00000540497.1_Silent_p.T1057T|ZMYND8_ENST00000262975.4_Silent_p.T1063T|ZMYND8_ENST00000471951.2_Silent_p.T1129T|ZMYND8_ENST00000352431.2_Silent_p.T1083T|ZMYND8_ENST00000355972.4_Silent_p.T1109T|ZMYND8_ENST00000536340.1_Silent_p.T1136T|ZMYND8_ENST00000360911.3_Silent_p.T1058T|ZMYND8_ENST00000458360.2_Silent_p.T977T|ZMYND8_ENST00000372023.3_Silent_p.T1031T|ZMYND8_ENST00000396281.4_Silent_p.T1109T			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													67	301					0	0	1	0	0	T	45849995	C	T	45849995	2	4	22	1	0	0	0	0	0	0	0	1	17769	523	19	1		1	ZMYND8	20	45849995	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48537	45849995	17175525	19608	21754											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446994.2_Missense_Mutation_p.R852C|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R935C|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R909C|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R915C|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R981C|ZMYND8_ENST00000352431.2_Missense_Mutation_p.R935C|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R961C|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R988C|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R910C|ZMYND8_ENST00000458360.2_Missense_Mutation_p.R829C|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R883C|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R961C			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													60	331					0	0	1	0	0	A	45856021	G	A	45856021	3	1	22	1	0	0	0	0	1	0	0	0	17769	1058	37	1	787	1	ZMYND8	20	45856021	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6026	45856021	17169499	19609	21755											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446994.2_Intron|ZMYND8_ENST00000461685.1_Intron|ZMYND8_ENST00000540497.1_Silent_p.T775T|ZMYND8_ENST00000262975.4_Intron|ZMYND8_ENST00000471951.2_Silent_p.T847T|ZMYND8_ENST00000352431.2_Intron|ZMYND8_ENST00000355972.4_Silent_p.T827T|ZMYND8_ENST00000536340.1_Silent_p.T854T|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000396281.4_Silent_p.T827T			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													107	536					0	0	1	0	0	T	45867626	C	T	45867626	2	4	22	1	0	0	0	0	0	0	0	1	17769	551	19	1		1	ZMYND8	20	45867626	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11605	45867626	17157894	19610	21756											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446994.2_Missense_Mutation_p.K624N|ZMYND8_ENST00000461685.1_Missense_Mutation_p.K707N|ZMYND8_ENST00000540497.1_Missense_Mutation_p.K635N|ZMYND8_ENST00000262975.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000471951.2_Missense_Mutation_p.K707N|ZMYND8_ENST00000352431.2_Missense_Mutation_p.K707N|ZMYND8_ENST00000355972.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000536340.1_Missense_Mutation_p.K714N|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000360911.3_Missense_Mutation_p.K682N|ZMYND8_ENST00000458360.2_Missense_Mutation_p.K682N|ZMYND8_ENST00000372023.3_Missense_Mutation_p.K682N|ZMYND8_ENST00000396281.4_Missense_Mutation_p.K687N			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													68	713					1.02487e-32	1.21166e-32	1	1	0	A	45874915	C	A	45874915	3	1	22	1	0	0	0	0	1	0	0	0	17769	680	24	2	1485	2	ZMYND8	20	45874915	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7289	45874915	17150605	19611	21757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46252654G>T	ENST00000372004.3	+	4	299		c.e4-1		NCOA3_ENST00000371998.3_Splice_Site|NCOA3_ENST00000371997.3_Splice_Site|NCOA3_ENST00000341724.6_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													30	175					7.68411e-24	8.75532e-24	1	1	0	T	46252654	G	T	46252654	5	4	22	1	0	0	0	0	0	0	1	0	10277	1043	36	2	89	2	NCOA3	20	46252654	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	377739	46252654	16772866	19612	21758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371998.3_Missense_Mutation_p.D295V|NCOA3_ENST00000371997.3_Missense_Mutation_p.D295V|NCOA3_ENST00000341724.6_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													102	367					0	0	1	0	0	T	46262300	A	T	46262300	3	4	22	1	0	0	0	0	1	0	0	0	10277	333	12	5	910	5	NCOA3	20	46262300	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9646	46262300	16763220	19613	21759											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371998.3_Missense_Mutation_p.S517I|NCOA3_ENST00000371997.3_Missense_Mutation_p.S527I|NCOA3_ENST00000341724.6_Missense_Mutation_p.S527I	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													74	354					2.9056e-39	3.51233e-39	1	1	0	T	46264680	G	T	46264680	3	4	22	1	0	0	0	0	1	0	0	0	10277	971	34	2	1618	2	NCOA3	20	46264680	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2380	46264680	16760840	19614	21760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371998.3_Silent_p.T535T|NCOA3_ENST00000371997.3_Silent_p.T545T|NCOA3_ENST00000341724.6_Silent_p.T545T	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													95	416					0	0	1	0	0	G	46264735	T	G	46264735	2	3	22	1	0	0	0	0	0	0	0	1	10277	1596	56	3		3	NCOA3	20	46264735	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	55	46264735	16760785	19615	21761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46277853G>A	ENST00000371998.3	+	19	3842	c.3651_splice	c.e19+1	p.Q1217_splice	NCOA3_ENST00000372004.3_Intron|NCOA3_ENST00000371997.3_Intron|NCOA3_ENST00000341724.6_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													32	176					0	0	1	0	0	A	46277853	G	A	46277853	5	1	22	1	0	0	0	0	0	0	1	0	10277	1014	35	2	3747	2	NCOA3	20	46277853	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13118	46277853	16747667	19616	21762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000484875.1_Silent_p.S115S|SULF2_ENST00000467815.1_Silent_p.S115S|SULF2_ENST00000361612.4_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													44	187					0	0	1	0	0	T	46365517	C	T	46365517	2	4	22	1	0	0	0	0	0	0	0	1	15427	755	27	1		1	SULF2	20	46365517	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87664	46365517	16660003	19617	21763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													129	617					0	0	1	0	0	A	47269916	G	A	47269916	3	1	22	1	0	0	0	0	1	0	0	0	12528	1057	37	1	2734	1	PREX1	20	47269916	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	904399	47269916	15755604	19618	21764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	350	1260					0	0	1	0	0	T	47274755	C	T	47274755	2	4	22	1	0	0	0	0	0	0	0	1	12528	680	24	2		2	PREX1	20	47274755	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4839	47274755	15750765	19619	21765											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													212	1085					0	0	1	0	0	G	47297832	T	G	47297832	3	3	22	1	0	0	0	0	1	0	0	0	12528	1609	56	3	3723	3	PREX1	20	47297832	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	23077	47297832	15727688	19620	21766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	1135					0	0	1	0	0	C	47324875	T	C	47324875	3	2	22	1	0	0	0	0	1	0	0	0	12528	1812	63	3	4413	3	PREX1	20	47324875	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27043	47324875	15700645	19621	21767											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	902					2.58029e-29	3.0132e-29	1	1	0	A	47361598	C	A	47361598	3	1	22	1	0	0	0	0	1	0	0	0	12528	564	20	2	4753	2	PREX1	20	47361598	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36723	47361598	15663922	19622	21768											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	386					0	0	1	0	0	C	47582460	T	C	47582460	3	2	22	1	0	0	0	0	1	0	0	0	850	1580	55	3	989	3	ARFGEF2	20	47582460	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	220862	47582460	15443060	19623	21769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	443					0	0	1	0	0	T	47601357	C	T	47601357	4	4	22	1	0	0	0	0	0	1	0	0	850	595	21	2	2108	2	ARFGEF2	20	47601357	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18897	47601357	15424163	19624	21770											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	431					0	0	1	0	0	T	47628603	C	T	47628603	2	4	22	1	0	0	0	0	0	0	0	1	850	547	19	1		1	ARFGEF2	20	47628603	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27246	47628603	15396917	19625	21771											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396192.3_Missense_Mutation_p.N354K|CSE1L_ENST00000542325.1_Missense_Mutation_p.N193K	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													105	400					0	0	1	0	0	G	47691952	T	G	47691952	3	3	22	1	0	0	0	0	1	0	0	0	3955	1490	52	3	1272	3	CSE1L	20	47691952	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63349	47691952	15333568	19626	21772											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396192.3_Missense_Mutation_p.N480D|CSE1L_ENST00000542325.1_Missense_Mutation_p.N319D	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													7	428					0	0	1	0	0	G	47700686	A	G	47700686	3	3	22	1	0	0	0	0	1	0	0	0	3955	362	13	3	1660	3	CSE1L	20	47700686	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8734	47700686	15324834	19627	21773											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371802.1_Missense_Mutation_p.V406A|STAU1_ENST00000347458.5_Missense_Mutation_p.V400A|STAU1_ENST00000360426.4_Missense_Mutation_p.V400A|STAU1_ENST00000340954.7_Missense_Mutation_p.V400A|STAU1_ENST00000371792.1_Missense_Mutation_p.V398A|STAU1_ENST00000371856.2_Missense_Mutation_p.V481A	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													69	304					0	0	1	0	0	G	47734381	A	G	47734381	3	3	22	1	0	0	0	0	1	0	0	0	15328	391	14	3	307	3	STAU1	20	47734381	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33695	47734381	15291139	19628	21774											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371802.1_Missense_Mutation_p.K74T|STAU1_ENST00000347458.5_Missense_Mutation_p.K74T|STAU1_ENST00000360426.4_Missense_Mutation_p.K74T|STAU1_ENST00000340954.7_Missense_Mutation_p.K74T|STAU1_ENST00000371792.1_Missense_Mutation_p.K74T|STAU1_ENST00000371856.2_Missense_Mutation_p.K155T	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													61	310					0	0	1	0	0	G	47768165	T	G	47768165	3	3	22	1	0	0	0	0	1	0	0	0	15328	1841	64	3	1327	3	STAU1	20	47768165	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33784	47768165	15257355	19629	21775											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	234					2.81731e-10	2.98404e-10	1	1	0	A	47836014	C	A	47836014	3	1	22	1	0	0	0	0	1	0	0	0	4377	507	18	2	124	2	DDX27	20	47836014	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67849	47836014	15189506	19630	21776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	202					0	0	1	0	0	T	47865209	C	T	47865209	3	4	22	1	0	0	0	0	1	0	0	0	18247	797	28	2	1408	2	ZNFX1	20	47865209	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29195	47865209	15160311	19631	21777											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	158					0	0	1	0	0	T	47991499	C	T	47991499	3	4	22	1	0	0	0	0	1	0	0	0	8056	536	19	1	1982	1	KCNB1	20	47991499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126290	47991499	15034021	19632	21778											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	594					0	0	1	0	0	T	48164483	C	T	48164483	3	4	22	1	0	0	0	0	1	0	0	0	12802	768	27	1	1262	1	PTGIS	20	48164483	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172984	48164483	14861037	19633	21779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	344					0	0	1	0	0	A	48252915	G	A	48252915	2	1	22	1	0	0	0	0	0	0	0	1	1272	1140	40	1		1	B4GALT5	20	48252915	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88432	48252915	14772605	19634	21780											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	306					4.0306e-16	4.4197e-16	1	1	0	T	48259054	G	T	48259054	3	4	22	1	0	0	0	0	1	0	0	0	1272	1232	43	2	629	2	B4GALT5	20	48259054	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6139	48259054	14766466	19635	21781											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	346					0	0	1	0	0	C	48260145	T	C	48260145	3	2	22	1	0	0	0	0	1	0	0	0	1272	1638	57	3	783	3	B4GALT5	20	48260145	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1091	48260145	14765375	19636	21782											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	82					0	0	1	0	0	G	49214249	T	G	49214249	5	3	22	1	0	0	0	0	0	0	1	0	5636	1594	55	3	1230	3	FAM65C	20	49214249	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	954104	49214249	13811271	19637	21783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371602.4_Silent_p.N905N|ADNP_ENST00000396032.3_Silent_p.N905N|ADNP_ENST00000349014.3_Silent_p.N905N	NM_015339.2	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													89	781					0	0	1	0	0	A	49508536	G	A	49508536	2	1	22	1	0	0	0	0	0	0	0	1	322	1136	40	1		1	ADNP	20	49508536	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294287	49508536	13516984	19638	21784											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371602.4_Missense_Mutation_p.H530R|ADNP_ENST00000396032.3_Missense_Mutation_p.H530R|ADNP_ENST00000349014.3_Missense_Mutation_p.H530R	NM_015339.2	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													148	611					0	0	1	0	0	C	49509662	T	C	49509662	3	2	22	1	0	0	0	0	1	0	0	0	322	1696	59	3	1723	3	ADNP	20	49509662	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1126	49509662	13515858	19639	21785											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371602.4_Missense_Mutation_p.Y185C|ADNP_ENST00000396032.3_Missense_Mutation_p.Y185C|ADNP_ENST00000349014.3_Missense_Mutation_p.Y185C	NM_015339.2	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													146	602					0	0	1	0	0	C	49510697	T	C	49510697	3	2	22	1	0	0	0	0	1	0	0	0	322	1638	57	3	2758	3	ADNP	20	49510697	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1035	49510697	13514823	19640	21786											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	496					0	0	1	0	0	A	49575496	G	A	49575496	2	1	22	1	0	0	0	0	0	0	0	1	9741	962	34	2		2	MOCS3	20	49575496	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64799	49575496	13450024	19641	21787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396009.3_Missense_Mutation_p.R821H	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													57	490					0	0	1	0	0	T	50048864	C	T	50048864	3	4	22	1	0	0	0	0	1	0	0	0	10409	768	27	1	371	1	NFATC2	20	50048864	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	473368	50048864	12976656	19642	21788											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396009.3_Nonsense_Mutation_p.R572*	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													51	574					0	0	1	0	0	A	50071220	G	A	50071220	4	1	22	1	0	0	0	0	0	1	0	0	10409	1095	38	1	1131	1	NFATC2	20	50071220	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22356	50071220	12954300	19643	21789											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000311637.5_Missense_Mutation_p.R639C|ATP9A_ENST00000402822.1_Missense_Mutation_p.R654C	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													81	332					0	0	1	0	0	A	50235228	G	A	50235228	3	1	22	1	0	0	0	0	1	0	0	0	1196	1087	38	1	852	1	ATP9A	20	50235228	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	164008	50235228	12790292	19644	21790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_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													84	1026					0	0	1	0	0	T	50305609	C	T	50305609	3	4	22	1	0	0	0	0	1	0	0	0	1196	768	27	1	2430	1	ATP9A	20	50305609	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70381	50305609	12719911	19645	21791											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_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													106	439					0	0	1	0	0	A	50310575	G	A	50310575	3	1	22	1	0	0	0	0	1	0	0	0	1196	1203	42	2	2617	2	ATP9A	20	50310575	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4966	50310575	12714945	19646	21792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000311637.5_Missense_Mutation_p.V97M|ATP9A_ENST00000402822.1_Missense_Mutation_p.V112M	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													10	57					0	0	1	0	0	T	50329607	C	T	50329607	3	4	22	1	0	0	0	0	1	0	0	0	1196	536	19	1	2909	1	ATP9A	20	50329607	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19032	50329607	12695913	19647	21793											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371539.3_Silent_p.H111H|SALL4_ENST00000395997.3_Silent_p.H451H	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													71	306					0	0	1	0	0	A	50405478	G	A	50405478	2	1	22	1	0	0	0	0	0	0	0	1	13865	1136	40	1		1	SALL4	20	50405478	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75871	50405478	12620042	19648	21794											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371539.3_Missense_Mutation_p.A90T|SALL4_ENST00000395997.3_Missense_Mutation_p.A430T	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													50	248					0	0	1	0	0	T	50405543	C	T	50405543	3	4	22	1	0	0	0	0	1	0	0	0	13865	739	26	2	570	2	SALL4	20	50405543	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65	50405543	12619977	19649	21795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_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													78	340					0	0	1	0	0	T	50406636	C	T	50406636	3	4	22	1	0	0	0	0	1	0	0	0	13865	893	31	1	787	1	SALL4	20	50406636	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1093	50406636	12618884	19650	21796											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_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													22	211					0	0	1	0	0	T	50406812	C	T	50406812	3	4	22	1	0	0	0	0	1	0	0	0	13865	507	18	2	963	2	SALL4	20	50406812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176	50406812	12618708	19651	21797											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Missense_Mutation_p.T71M|SALL4_ENST00000483130.1_5'UTR	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													91	295					0	0	1	0	0	A	50408810	G	A	50408810	3	1	22	1	0	0	0	0	1	0	0	0	13865	1145	40	1	2961	1	SALL4	20	50408810	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1998	50408810	12616710	19652	21798											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	203					9.8876e-21	1.10988e-20	1	1	0	T	50701282	G	T	50701282	2	4	22	1	0	0	0	0	0	0	0	1	17710	987	35	2		2	ZFP64	20	50701282	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	292472	50701282	12324238	19653	21799											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371515.4_Silent_p.V510V|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Silent_p.V458V|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													35	190					0	0	1	0	0	A	50769195	G	A	50769195	2	1	22	1	0	0	0	0	0	0	0	1	17710	1161	41	2		2	ZFP64	20	50769195	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67913	50769195	12256325	19654	21800											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371515.4_Missense_Mutation_p.G104D|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000346617.4_Intron|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													38	246					0	0	1	0	0	T	50782534	C	T	50782534	3	4	22	1	0	0	0	0	1	0	0	0	17710	739	26	2	2935	2	ZFP64	20	50782534	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13339	50782534	12242986	19655	21801											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000603338.2_Silent_p.C96C|TSHZ2_ENST00000329613.6_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													49	229					0	0	1	0	0	T	51870294	C	T	51870294	2	4	22	1	0	0	0	0	0	0	0	1	16685	776	27	1		1	TSHZ2	20	51870294	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1087760	51870294	11155226	19656	21802											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000603338.2_Missense_Mutation_p.V289I|TSHZ2_ENST00000329613.6_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													56	229					0	0	1	0	0	A	51870871	G	A	51870871	3	1	22	1	0	0	0	0	1	0	0	0	16685	1145	40	1	880	1	TSHZ2	20	51870871	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	577	51870871	11154649	19657	21803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000603338.2_Missense_Mutation_p.P488H|TSHZ2_ENST00000329613.6_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													24	480					9.95505e-16	1.08957e-15	1	1	0	A	51871469	C	A	51871469	3	1	22	1	0	0	0	0	1	0	0	0	16685	681	24	2	1478	2	TSHZ2	20	51871469	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	598	51871469	11154051	19658	21804											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000603338.2_Missense_Mutation_p.L654M|TSHZ2_ENST00000329613.6_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													55	287					3.73128e-16	4.09274e-16	1	1	0	A	51871966	C	A	51871966	3	1	22	1	0	0	0	0	1	0	0	0	16685	796	28	2	1975	2	TSHZ2	20	51871966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	497	51871966	11153554	19659	21805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	248					0	0	1	0	0	G	52192497	A	G	52192497	3	3	22	1	0	0	0	0	1	0	0	0	17830	362	13	3	348	3	ZNF217	20	52192497	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	320531	52192497	10833023	19660	21806											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													90	406					0	0	1	0	0	T	52192856	C	T	52192856	3	4	22	1	0	0	0	0	1	0	0	0	17830	565	20	2	707	2	ZNF217	20	52192856	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	359	52192856	10832664	19661	21807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	963					0	0	1	0	0	G	52198796	T	G	52198796	3	3	22	1	0	0	0	0	1	0	0	0	17830	1606	56	3	2592	3	ZNF217	20	52198796	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5940	52198796	10826724	19662	21808											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													200	830					0	0	1	0	0	G	52198924	T	G	52198924	2	3	22	1	0	0	0	0	0	0	0	1	17830	1559	54	3		3	ZNF217	20	52198924	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	128	52198924	10826596	19663	21809											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	569					0	0	1	0	0	T	52788203	C	T	52788203	2	4	22	1	0	0	0	0	0	0	0	1	4177	610	22	2		2	CYP24A1	20	52788203	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	589279	52788203	10237317	19664	21810											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	317					0	0	1	0	0	C	53208230	A	C	53208230	3	2	22	1	0	0	0	0	1	0	0	0	4727	304	11	3	503	3	DOK5	20	53208230	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	420027	53208230	9817290	19665	21811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	228					0	0	1	0	0	T	53227033	C	T	53227033	3	4	22	1	0	0	0	0	1	0	0	0	4727	768	27	1	728	1	DOK5	20	53227033	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18803	53227033	9798487	19666	21812											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	248					0	0	1	0	0	A	53260055	G	A	53260055	3	1	22	1	0	0	0	0	1	0	0	0	4727	1087	38	1	820	1	DOK5	20	53260055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33022	53260055	9765465	19667	21813											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54575785A>G	ENST00000064571.2	-	2	1709		c.e2+1			NM_080617.4	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													96	494					0	0	1	0	0	G	54575785	A	G	54575785	5	3	22	1	0	0	0	0	0	0	1	0	2725	173	6	3	203	3	CBLN4	20	54575785	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1315730	54575785	8449735	19668	21814											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_080617.4	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													41	234					3.61848e-18	4.01023e-18	1	1	0	T	54579107	G	T	54579107	3	4	22	1	0	0	0	0	1	0	0	0	2725	933	33	2	496	2	CBLN4	20	54579107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3322	54579107	8446413	19669	21815											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	296					0	0	1	0	0	T	54824572	C	T	54824572	3	4	22	1	0	0	0	0	1	0	0	0	9415	739	26	2	675	2	MC3R	20	54824572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	245465	54824572	8200948	19670	21816											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	940					0	0	1	0	0	T	54824796	C	T	54824796	2	4	22	1	0	0	0	0	0	0	0	1	9415	547	19	1		1	MC3R	20	54824796	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	224	54824796	8200724	19671	21817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000347343.2_Missense_Mutation_p.A356T|AURKA_ENST00000312783.6_Missense_Mutation_p.A356T|AURKA_ENST00000395913.3_Missense_Mutation_p.A356T|AURKA_ENST00000395915.3_Missense_Mutation_p.A356T|AURKA_ENST00000395907.1_3'UTR|AURKA_ENST00000395911.1_Missense_Mutation_p.A356T|AURKA_ENST00000371356.2_Missense_Mutation_p.A356T|AURKA_ENST00000395914.1_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													65	300					0	0	1	0	0	T	54945360	C	T	54945360	3	4	22	1	0	0	0	0	1	0	0	0	1219	797	28	2	149	2	AURKA	20	54945360	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120564	54945360	8080160	19672	21818											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	616					0	0	1	0	0	T	54974226	C	T	54974226	2	4	22	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	19673	21819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	593					0	0	1	0	0	T	54978770	C	T	54978770	3	4	22	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	19674	21820											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	309					2.12542e-12	2.28249e-12	1	1	0	T	55027901	G	T	55027901	3	4	22	1	0	0	0	0	1	0	0	0	2701	942	33	2	1687	2	CASS4	20	55027901	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49131	55027901	7997619	19675	21821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	218					0	0	1	0	0	T	55206408	C	T	55206408	4	4	22	1	0	0	0	0	0	1	0	0	15849	711	25	2	202	2	TFAP2C	20	55206408	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178507	55206408	7819112	19676	21822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395864.3_Missense_Mutation_p.T324M|BMP7_ENST00000460817.1_5'UTR	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													48	210					0	0	1	0	0	A	55746142	G	A	55746142	3	1	22	1	0	0	0	0	1	0	0	0	1464	1145	40	1	130	1	BMP7	20	55746142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	539734	55746142	7279378	19677	21823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395840.2_Silent_p.T310T|RAE1_ENST00000527947.1_Silent_p.T310T|RAE1_ENST00000371242.2_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													15	614					0	0	1	0	0	C	55949767	T	C	55949767	2	2	22	1	0	0	0	0	0	0	0	1	13050	1596	56	3		3	RAE1	20	55949767	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	203625	55949767	7075753	19678	21824											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	252					9.86064e-34	1.16979e-33	1	1	0	T	56139438	G	T	56139438	3	4	22	1	0	0	0	0	1	0	0	0	11628	971	34	2	1197	2	PCK1	20	56139438	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	189671	56139438	6886082	19679	21825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	378					0	0	1	0	0	T	56139544	C	T	56139544	3	4	22	1	0	0	0	0	1	0	0	0	11628	681	24	2	1219	2	PCK1	20	56139544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106	56139544	6885976	19680	21826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000265626.4_Silent_p.P179P|PMEPA1_ENST00000395814.1_Silent_p.P179P|PMEPA1_ENST00000395816.3_Silent_p.P179P|PMEPA1_ENST00000347215.4_Silent_p.P194P	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													29	104					4.59853e-10	4.86106e-10	1	1	0	A	56227286	C	A	56227286	2	1	22	1	0	0	0	0	0	0	0	1	12180	755	27	4		4	PMEPA1	20	56227286	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87742	56227286	6798234	19681	21827											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000265626.4_Missense_Mutation_p.Y169N|PMEPA1_ENST00000395814.1_Missense_Mutation_p.Y169N|PMEPA1_ENST00000395816.3_Missense_Mutation_p.Y169N|PMEPA1_ENST00000347215.4_Missense_Mutation_p.Y184N	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													45	168					0	0	1	0	0	T	56227318	A	T	56227318	3	4	22	1	0	0	0	0	1	0	0	0	12180	420	15	5	212	5	PMEPA1	20	56227318	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32	56227318	6798202	19682	21828											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000265626.4_Missense_Mutation_p.S101L|PMEPA1_ENST00000395814.1_Missense_Mutation_p.S101L|PMEPA1_ENST00000395816.3_Missense_Mutation_p.S101L|PMEPA1_ENST00000347215.4_Missense_Mutation_p.S116L	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													40	119					0	0	1	0	0	A	56227521	G	A	56227521	3	1	22	1	0	0	0	0	1	0	0	0	12180	1059	37	1	415	1	PMEPA1	20	56227521	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203	56227521	6797999	19683	21829											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395802.3_Intron|VAPB_ENST00000265619.2_3'UTR	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													46	219					0	0	1	0	0	A	57016098	G	A	57016098	3	1	22	1	0	0	0	0	1	0	0	0	17182	1000	35	2	550	2	VAPB	20	57016098	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	788577	57016098	6009422	19684	21830											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	63					0	0	1	0	0	A	57036492	G	A	57036492	3	1	22	1	0	0	0	0	1	0	0	0	762	1059	37	1	649	1	APCDD1L	20	57036492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20394	57036492	5989028	19685	21831											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000496003.1_3'UTR|STX16_ENST00000361830.3_Silent_p.Q288Q|STX16_ENST00000359617.4_Silent_p.Q235Q|STX16_ENST00000355957.5_Silent_p.Q271Q|STX16_ENST00000361770.5_Silent_p.Q271Q|STX16_ENST00000358029.4_Silent_p.Q284Q|STX16-NPEPL1_ENST00000530122.1_Silent_p.Q288Q|STX16_ENST00000371132.4_Silent_p.Q267Q	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													32	165					0	0	1	0	0	A	57248758	G	A	57248758	2	1	22	1	0	0	0	0	0	0	0	1	15395	962	34	2		2	STX16	20	57248758	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	212266	57248758	5776762	19686	21832											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371098.2_Silent_p.I119I|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Silent_p.I119I			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)			97	472					0	0	1	0	0	T	57415518	C	T	57415518	2	4	22	1	0	0	0	0	0	0	0	1	6552	874	31	1		1	GNAS	20	57415518	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	166760	57415518	5610002	19687	21833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371098.2_Missense_Mutation_p.P129H|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.P129H			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)			100	487					6.00573e-27	6.93999e-27	1	1	0	A	57415547	C	A	57415547	3	1	22	1	0	0	0	0	1	0	0	0	6552	681	24	2	388	2	GNAS	20	57415547	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29	57415547	5609973	19688	21834											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.P278S|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_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)			22	131					0	0	1	0	0	T	57429152	C	T	57429152	3	4	22	1	0	0	0	0	1	0	0	0	6552	623	22	2	1576	2	GNAS	20	57429152	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13605	57429152	5596368	19689	21835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.G282C|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_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)			28	139					1.39806e-14	1.52044e-14	1	1	0	T	57429164	G	T	57429164	3	4	22	1	0	0	0	0	1	0	0	0	6552	1116	39	4	1588	4	GNAS	20	57429164	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12	57429164	5596356	19690	21836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000313949.7_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.V184M|GNAS_ENST00000306090.10_Missense_Mutation_p.V170M|GNAS_ENST00000265620.7_Missense_Mutation_p.V169M|GNAS_ENST00000371102.4_Missense_Mutation_p.V813M|GNAS_ENST00000354359.7_Missense_Mutation_p.V185M|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.V170M	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)			62	1413					0	0	1	0	0	A	57484236	G	A	57484236	3	1	22	1	0	0	0	0	1	0	0	0	6552	1145	40	1	3393	1	GNAS	20	57484236	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55072	57484236	5541284	19691	21837											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	485					0	0	1	0	0	T	57598802	C	T	57598802	3	4	22	1	0	0	0	0	1	0	0	0	16815	536	19	1	334	1	TUBB1	20	57598802	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114566	57598802	5426718	19692	21838											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													144	565					6.24756e-60	7.85099e-60	1	1	0	A	57598897	C	A	57598897	3	1	22	1	0	0	0	0	1	0	0	0	16815	680	24	2	429	2	TUBB1	20	57598897	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95	57598897	5426623	19693	21839											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	196					0	0	1	0	0	A	57599572	G	A	57599572	3	1	22	1	0	0	0	0	1	0	0	0	16815	1203	42	2	1104	2	TUBB1	20	57599572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	675	57599572	5425948	19694	21840											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	144					0	0	1	0	0	T	57766263	C	T	57766263	2	4	22	1	0	0	0	0	0	0	0	1	18232	518	18	2		2	ZNF831	20	57766263	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	166691	57766263	5259257	19695	21841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	466					7.4264e-54	9.26213e-54	1	1	0	A	57766678	C	A	57766678	3	1	22	1	0	0	0	0	1	0	0	0	18232	796	28	2	606	2	ZNF831	20	57766678	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	415	57766678	5258842	19696	21842											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	474					2.38877e-60	3.0041e-60	1	1	0	T	57766948	G	T	57766948	3	4	22	1	0	0	0	0	1	0	0	0	18232	971	34	2	876	2	ZNF831	20	57766948	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270	57766948	5258572	19697	21843											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	325					0	0	1	0	0	T	57767471	C	T	57767471	3	4	22	1	0	0	0	0	1	0	0	0	18232	739	26	2	1399	2	ZNF831	20	57767471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	523	57767471	5258049	19698	21844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	452					0	0	1	0	0	A	57767889	G	A	57767889	2	1	22	1	0	0	0	0	0	0	0	1	18232	1165	41	2		2	ZNF831	20	57767889	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	418	57767889	5257631	19699	21845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	411					0	0	1	0	0	T	57829178	C	T	57829178	3	4	22	1	0	0	0	0	1	0	0	0	18232	739	26	2	4432	2	ZNF831	20	57829178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61289	57829178	5196342	19700	21846											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	179					0	0	1	0	0	G	57829317	A	G	57829317	3	3	22	1	0	0	0	0	1	0	0	0	18232	188	7	3	4571	3	ZNF831	20	57829317	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	139	57829317	5196203	19701	21847											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000337938.2_Missense_Mutation_p.G163R|EDN3_ENST00000395654.3_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													19	571					0	0	1	0	0	A	57896193	G	A	57896193	3	1	22	1	0	0	0	0	1	0	0	0	4944	1232	43	2	497	2	EDN3	20	57896193	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66876	57896193	5129327	19702	21848											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													134	570					0	0	1	0	0	A	57899506	G	A	57899506	3	1	22	1	0	0	0	0	1	0	0	0	4944	971	34	2	766	2	EDN3	20	57899506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3313	57899506	5126014	19703	21849											
PHACTR3	116154	broad.mit.edu	37	chr20	58348387	58348387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtgccgacccttccctcCggggccagctctccacaccc	9	20	1	1	rs148776043	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58348387C>T	ENST00000371015.1	+	6	1272	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	PHACTR3_ENST00000359926.3_Missense_Mutation_p.R266W|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R228W|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R158W|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R228W|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R158W|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R228W	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	269						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)			CCCTTCCCTCCGGGGCCAGCT	0.647													51	576					0	0	1	0	0	T	58348387	C	T	58348387	3	4	22	1	0	0	0	0	1	0	0	0	11859	643	23	1	827	1	PHACTR3	20	58348387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	448881	58348387	4677133	19704	21850											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	71					0	0	1	0	0	T	58439413	C	T	58439413	3	4	22	1	0	0	0	0	1	0	0	0	15489	922	32	2	50	2	SYCP2	20	58439413	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91026	58439413	4586107	19705	21851											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	71					0	0	1	0	0	A	58439431	G	A	58439431	3	1	22	1	0	0	0	0	1	0	0	0	15489	971	34	2	68	2	SYCP2	20	58439431	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18	58439431	4586089	19706	21852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	155					0	0	1	0	0	A	58441414	G	A	58441414	2	1	22	1	0	0	0	0	0	0	0	1	15489	1280	45	2		2	SYCP2	20	58441414	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1983	58441414	4584106	19707	21853											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	217					0	0	1	0	0	T	58441580	C	T	58441580	3	4	22	1	0	0	0	0	1	0	0	0	15489	913	32	2	426	2	SYCP2	20	58441580	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	166	58441580	4583940	19708	21854											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	165					0	0	1	0	0	C	58457164	A	C	58457164	2	2	22	1	0	0	0	0	0	0	0	1	15489	59	3	3		3	SYCP2	20	58457164	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15584	58457164	4568356	19709	21855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	364					0	0	1	0	0	G	58467404	T	G	58467404	3	3	22	1	0	0	0	0	1	0	0	0	15489	1850	64	3	2675	3	SYCP2	20	58467404	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10240	58467404	4558116	19710	21856											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	132					0	0	1	0	0	T	58476773	C	T	58476773	3	4	22	1	0	0	0	0	1	0	0	0	15489	768	27	1	3586	1	SYCP2	20	58476773	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9369	58476773	4548747	19711	21857											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	161					0	0	1	0	0	C	58514512	A	C	58514512	3	2	22	1	0	0	0	0	1	0	0	0	12423	14	1	3	428	3	PPP1R3D	20	58514512	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	37739	58514512	4511008	19712	21858											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	319					0	0	1	0	0	A	58562651	G	A	58562651	2	1	22	1	0	0	0	0	0	0	0	1	3132	1045	37	1		1	CDH26	20	58562651	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48139	58562651	4462869	19713	21859											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	246					0	0	1	0	0	T	58569416	C	T	58569416	3	4	22	1	0	0	0	0	1	0	0	0	3132	797	28	2	1580	2	CDH26	20	58569416	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6765	58569416	4456104	19714	21860											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	252					0	0	1	0	0	A	58569448	G	A	58569448	3	1	22	1	0	0	0	0	1	0	0	0	3132	1174	41	2	1612	2	CDH26	20	58569448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32	58569448	4456072	19715	21861	145	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	234					0	0	1	0	0	C	58569449	A	C	58569449	3	2	22	1	0	0	0	0	1	0	0	0	3132	333	12	3	1613	3	CDH26	20	58569449	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1	58569449	4456071	19716	21862	145	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000244047.5_Intron|CDH26_ENST00000350849.6_Silent_p.S118S|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244049.3_Silent_p.S77S	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													83	353					0	0	1	0	0	T	58587641	C	T	58587641	2	4	22	1	0	0	0	0	0	0	0	1	3132	767	27	1		1	CDH26	20	58587641	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18192	58587641	4437879	19717	21863											
CDH4	1002	broad.mit.edu	37	chr20	60427938	60427938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctacaacggctccgtggaCgagggctccaagccaggtga	14	12	1	1	rs146532439	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60427938C>T	ENST00000360469.5	+	6	949	c.861C>T	c.(859-861)gaC>gaT	p.D287D	CDH4_ENST00000543233.1_Silent_p.D213D	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	287	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)			GCTCCGTGGACGAGGGCTCCA	0.597													134	773					0	0	1	0	0	T	60427938	C	T	60427938	2	4	22	1	0	0	0	0	0	0	0	1	3134	535	19	1		1	CDH4	20	60427938	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1840297	60427938	2597582	19718	21864											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	570					0	0	1	0	0	T	60448855	C	T	60448855	3	4	22	1	0	0	0	0	1	0	0	0	3134	643	23	1	975	1	CDH4	20	60448855	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20917	60448855	2576665	19719	21865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	150					0	0	1	0	0	A	60498707	G	A	60498707	3	1	22	1	0	0	0	0	1	0	0	0	3134	1145	40	1	1611	1	CDH4	20	60498707	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49852	60498707	2526813	19720	21866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	398					0	0	1	0	0	T	60504702	C	T	60504702	2	4	22	1	0	0	0	0	0	0	0	1	3134	680	24	2		2	CDH4	20	60504702	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5995	60504702	2520818	19721	21867	146	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	394					0	0	1	0	0	T	60504709	C	T	60504709	3	4	22	1	0	0	0	0	1	0	0	0	3134	739	26	2	2098	2	CDH4	20	60504709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7	60504709	2520811	19722	21868	146	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60575234C>A	ENST00000252996.3	-	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	911					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													62	334					8.77104e-35	1.04431e-34	1	1	0	A	60575234	C	A	60575234	3	1	22	1	0	0	0	0	1	0	0	0	15583	912	32	2	544	2	TAF4	20	60575234	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70525	60575234	2450286	19723	21869											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60581569C>T	ENST00000252996.3	-	7	2219	c.2220G>A	c.(2218-2220)ccG>ccA	p.P740P	TAF4_ENST00000488539.1_Intron	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	740					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													9	75					0	0	1	0	0	T	60581569	C	T	60581569	2	4	22	1	0	0	0	0	0	0	0	1	15583	755	27	1		1	TAF4	20	60581569	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6335	60581569	2443951	19724	21870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60585189C>T	ENST00000252996.3	-	4	1673	c.1674G>A	c.(1672-1674)acG>acA	p.T558T		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	558					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													52	330					0	0	1	0	0	T	60585189	C	T	60585189	2	4	22	1	0	0	0	0	0	0	0	1	15583	639	23	1		1	TAF4	20	60585189	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3620	60585189	2440331	19725	21871											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													178	764					0	0	1	0	0	T	60861650	C	T	60861650	2	4	22	1	0	0	0	0	0	0	0	1	11325	639	23	1		1	OSBPL2	20	60861650	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	276461	60861650	2163870	19726	21872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	104					0	0	1	0	0	G	60864297	A	G	60864297	3	3	22	1	0	0	0	0	1	0	0	0	11325	43	2	3	1202	3	OSBPL2	20	60864297	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2647	60864297	2161223	19727	21873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	227					6.08268e-21	6.83416e-21	1	1	0	T	60895841	G	T	60895841	3	4	22	1	0	0	0	0	1	0	0	0	8648	1203	42	2	4613	2	LAMA5	20	60895841	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31544	60895841	2129679	19728	21874											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	154					0	0	1	0	0	T	60900582	C	T	60900582	2	4	22	1	0	0	0	0	0	0	0	1	8648	912	32	2		2	LAMA5	20	60900582	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4741	60900582	2124938	19729	21875											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	388					0	0	1	0	0	T	60902995	C	T	60902995	3	4	22	1	0	0	0	0	1	0	0	0	8648	768	27	1	6543	1	LAMA5	20	60902995	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2413	60902995	2122525	19730	21876											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	288					0	0	1	0	0	T	60903983	C	T	60903983	3	4	22	1	0	0	0	0	1	0	0	0	8648	739	26	2	6911	2	LAMA5	20	60903983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	988	60903983	2121537	19731	21877											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	86					0	0	1	0	0	A	60906108	G	A	60906108	2	1	22	1	0	0	0	0	0	0	0	1	8648	1136	40	1		1	LAMA5	20	60906108	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2125	60906108	2119412	19732	21878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	64					1.15919e-05	1.1882e-05	1	1	0	A	60913186	C	A	60913186	4	1	22	1	0	0	0	0	0	1	0	0	8648	690	24	2	9578	2	LAMA5	20	60913186	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7078	60913186	2112334	19733	21879											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	42					0	0	1	0	0	T	60921612	C	T	60921612	3	4	22	1	0	0	0	0	1	0	0	0	8648	739	26	2	10143	2	LAMA5	20	60921612	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8426	60921612	2103908	19734	21880											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	163					0	0	1	0	0	A	60922054	G	A	60922054	2	1	22	1	0	0	0	0	0	0	0	1	8648	1079	38	1		1	LAMA5	20	60922054	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	442	60922054	2103466	19735	21881											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	91					0	0	1	0	0	A	60926993	G	A	60926993	3	1	22	1	0	0	0	0	1	0	0	0	8648	1087	38	1	10561	1	LAMA5	20	60926993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4939	60926993	2098527	19736	21882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	117					0	0	1	0	0	A	60927304	G	A	60927304	2	1	22	1	0	0	0	0	0	0	0	1	8648	1136	40	1		1	LAMA5	20	60927304	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	311	60927304	2098216	19737	21883											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	822					0	0	1	0	0	T	61303134	C	T	61303134	2	4	22	1	0	0	0	0	0	0	0	1	14784	805	28	2		2	SLCO4A1	20	61303134	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	375830	61303134	1722386	19738	21884											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370468.3_Missense_Mutation_p.P303L|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													12	43					0	0	1	0	0	T	61443875	C	T	61443875	3	4	22	1	0	0	0	0	1	0	0	0	10891	652	23	1	934	1	OGFR	20	61443875	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140741	61443875	1581645	19739	21885											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	493					0	0	1	0	0	A	61488887	G	A	61488887	2	1	22	1	0	0	0	0	0	0	0	1	15759	1074	38	1		1	TCFL5	20	61488887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45012	61488887	1536633	19740	21886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													248	1165					0	0	1	0	0	A	61511392	G	A	61511392	2	1	22	1	0	0	0	0	0	0	0	1	4550	1161	41	2		2	DIDO1	20	61511392	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22505	61511392	1514128	19741	21887											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													143	589					0	0	1	0	0	A	61512121	G	A	61512121	2	1	22	1	0	0	0	0	0	0	0	1	4550	1103	39	1		1	DIDO1	20	61512121	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	729	61512121	1513399	19742	21888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	588					0	0	1	0	0	A	61512142	G	A	61512142	2	1	22	1	0	0	0	0	0	0	0	1	4550	1368	48	2		2	DIDO1	20	61512142	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	61512142	1513378	19743	21889											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													172	726					0	0	1	0	0	C	61513253	T	C	61513253	3	2	22	1	0	0	0	0	1	0	0	0	4550	1667	58	3	2671	3	DIDO1	20	61513253	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1111	61513253	1512267	19744	21890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													169	652					0	0	1	0	0	A	61513636	G	A	61513636	2	1	22	1	0	0	0	0	0	0	0	1	4550	1136	40	1		1	DIDO1	20	61513636	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	383	61513636	1511884	19745	21891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395340.1_Missense_Mutation_p.R1183C|DIDO1_ENST00000395343.1_Intron|DIDO1_ENST00000266070.4_Intron	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													55	247					0	0	1	0	0	A	61522306	G	A	61522306	3	1	22	1	0	0	0	0	1	0	0	0	4550	1087	38	1	3212	1	DIDO1	20	61522306	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8670	61522306	1503214	19746	21892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395335.2_Missense_Mutation_p.S1019F|DIDO1_ENST00000395340.1_Missense_Mutation_p.S1019F|DIDO1_ENST00000395343.1_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													108	408					0	0	1	0	0	A	61525063	G	A	61525063	3	1	22	1	0	0	0	0	1	0	0	0	4550	942	33	2	3715	2	DIDO1	20	61525063	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2757	61525063	1500457	19747	21893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395335.2_Missense_Mutation_p.S1005Y|DIDO1_ENST00000395340.1_Missense_Mutation_p.S1005Y|DIDO1_ENST00000395343.1_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													103	473					6.23761e-45	7.63986e-45	1	1	0	T	61525105	G	T	61525105	3	4	22	1	0	0	0	0	1	0	0	0	4550	942	33	2	3757	2	DIDO1	20	61525105	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42	61525105	1500415	19748	21894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395335.2_Missense_Mutation_p.A619V|DIDO1_ENST00000395340.1_Missense_Mutation_p.A619V|DIDO1_ENST00000395343.1_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													105	463					0	0	1	0	0	A	61528081	G	A	61528081	3	1	22	1	0	0	0	0	1	0	0	0	4550	1319	46	2	4935	2	DIDO1	20	61528081	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2976	61528081	1497439	19749	21895											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266071.5_Silent_p.T478T|DIDO1_ENST00000395335.2_Silent_p.T478T|DIDO1_ENST00000354665.4_Silent_p.T478T|DIDO1_ENST00000395340.1_Silent_p.T478T|DIDO1_ENST00000370371.4_Silent_p.T478T|DIDO1_ENST00000395343.1_Silent_p.T478T|DIDO1_ENST00000370368.1_Silent_p.T478T|DIDO1_ENST00000370366.1_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													12	691					0	0	1	0	0	C	61537393	T	C	61537393	2	2	22	1	0	0	0	0	0	0	0	1	4550	1567	55	3		3	DIDO1	20	61537393	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9312	61537393	1488127	19750	21896											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266071.5_Missense_Mutation_p.E289D|DIDO1_ENST00000395335.2_Missense_Mutation_p.E289D|DIDO1_ENST00000354665.4_Missense_Mutation_p.E289D|DIDO1_ENST00000395340.1_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_ENST00000370366.1_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													87	303					0	0	1	0	0	A	61541345	T	A	61541345	3	1	22	1	0	0	0	0	1	0	0	0	4550	1606	56	5	6037	5	DIDO1	20	61541345	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3952	61541345	1484175	19751	21897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266071.5_Silent_p.G211G|DIDO1_ENST00000395335.2_Silent_p.G211G|DIDO1_ENST00000354665.4_Silent_p.G211G|DIDO1_ENST00000395340.1_Silent_p.G211G|DIDO1_ENST00000370371.4_Silent_p.G211G|DIDO1_ENST00000395343.1_Silent_p.G211G|DIDO1_ENST00000370368.1_Silent_p.G211G|DIDO1_ENST00000370366.1_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													73	344					0	0	1	0	0	A	61542332	G	A	61542332	2	1	22	1	0	0	0	0	0	0	0	1	4550	1074	38	1		1	DIDO1	20	61542332	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	987	61542332	1483188	19752	21898											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266071.5_Silent_p.S156S|DIDO1_ENST00000395335.2_Silent_p.S156S|DIDO1_ENST00000354665.4_Silent_p.S156S|DIDO1_ENST00000395340.1_Silent_p.S156S|DIDO1_ENST00000370371.4_Silent_p.S156S|DIDO1_ENST00000395343.1_Silent_p.S156S|DIDO1_ENST00000370368.1_Silent_p.S156S|DIDO1_ENST00000370366.1_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													97	346					0	0	1	0	0	A	61542497	G	A	61542497	2	1	22	1	0	0	0	0	0	0	0	1	4550	1078	38	1		1	DIDO1	20	61542497	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165	61542497	1483023	19753	21899											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266071.5_Missense_Mutation_p.R82W|DIDO1_ENST00000395335.2_Missense_Mutation_p.R82W|DIDO1_ENST00000354665.4_Missense_Mutation_p.R82W|DIDO1_ENST00000395340.1_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_ENST00000370366.1_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													45	178					0	0	1	0	0	A	61542721	G	A	61542721	3	1	22	1	0	0	0	0	1	0	0	0	4550	1086	38	1	6664	1	DIDO1	20	61542721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	224	61542721	1482799	19754	21900											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	143					0	0	1	0	0	A	61594714	G	A	61594714	3	1	22	1	0	0	0	0	1	0	0	0	14479	1319	46	2	740	2	SLC17A9	20	61594714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51993	61594714	1430806	19755	21901											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	593					1.53716e-24	1.75837e-24	1	1	0	T	61598818	G	T	61598818	3	4	22	1	0	0	0	0	1	0	0	0	14479	1000	35	2	1327	2	SLC17A9	20	61598818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4104	61598818	1426702	19756	21902											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_542173.1	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													22	140					9.86323e-18	1.09066e-17	1	1	0	T	61637625	G	T	61637625	3	4	22	1	0	0	0	0	1	0	0	0	1421	1000	35	2	227	2	BHLHE23	20	61637625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38807	61637625	1387895	19757	21903											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370333.4_Silent_p.H51H|YTHDF1_ENST00000370334.4_Intron	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													80	364					0	0	1	0	0	A	61834989	G	A	61834989	2	1	22	1	0	0	0	0	0	0	0	1	17558	1136	40	1		1	YTHDF1	20	61834989	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	197364	61834989	1190531	19758	21904											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000353546.3_Missense_Mutation_p.F111V|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.F58V|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.F37V|ARFGAP1_ENST00000370283.4_Missense_Mutation_p.F111V|ARFGAP1_ENST00000519273.2_Silent_p.S31S			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													35	169					0	0	1	0	0	G	61907992	T	G	61907992	3	3	22	1	0	0	0	0	1	0	0	0	846	1609	56	3	341	3	ARFGAP1	20	61907992	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	73003	61907992	1117528	19759	21905											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000326996.6_Silent_p.S3S|COL20A1_ENST00000435874.1_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													3	14					0	0	1	0	0	T	61926468	C	T	61926468	2	4	22	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	19760	21906											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000326996.6_Nonsense_Mutation_p.R1199*|COL20A1_ENST00000435874.1_Nonsense_Mutation_p.R1174*|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													9	41					0	0	1	0	0	T	61958146	C	T	61958146	4	4	22	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	19761	21907	147	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000326996.6_Missense_Mutation_p.P1202T|COL20A1_ENST00000435874.1_Missense_Mutation_p.P1177T|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													9	44					3.86212e-05	3.93988e-05	1	1	0	A	61958155	C	A	61958155	3	1	22	1	0	0	0	0	1	0	0	0	3702	855	30	2	3568	2	COL20A1	20	61958155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9	61958155	1067365	19762	21908	147	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	48					0	0	1	0	0	A	61981304	G	A	61981304	3	1	22	1	0	0	0	0	1	0	0	0	3407	1057	37	1	432	1	CHRNA4	20	61981304	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23149	61981304	1044216	19763	21909											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	249					0	0	1	0	0	T	61981707	C	T	61981707	2	4	22	1	0	0	0	0	0	0	0	1	3407	697	25	2		2	CHRNA4	20	61981707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	403	61981707	1043813	19764	21910											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	284					0	0	1	0	0	T	61981955	C	T	61981955	3	4	22	1	0	0	0	0	1	0	0	0	3407	893	31	1	1083	1	CHRNA4	20	61981955	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248	61981955	1043565	19765	21911											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359125.2_Missense_Mutation_p.R489H|KCNQ2_ENST00000370222.3_Missense_Mutation_p.R461H|KCNQ2_ENST00000370224.1_Missense_Mutation_p.R461H|KCNQ2_ENST00000430658.1_Missense_Mutation_p.R459H|KCNQ2_ENST00000344462.3_Missense_Mutation_p.R449H|KCNQ2_ENST00000360480.3_Missense_Mutation_p.R461H|KCNQ2_ENST00000359689.1_Missense_Mutation_p.R489H|KCNQ2_ENST00000357249.2_Missense_Mutation_p.R471H|KCNQ2_ENST00000370226.1_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													118	501					0	0	1	0	0	T	62046315	C	T	62046315	3	4	22	1	0	0	0	0	1	0	0	0	8127	768	27	1	1172	1	KCNQ2	20	62046315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64360	62046315	979205	19766	21912											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359125.2_Missense_Mutation_p.L356M|KCNQ2_ENST00000370221.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000370222.3_Missense_Mutation_p.L356M|KCNQ2_ENST00000370224.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000430658.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000344462.3_Missense_Mutation_p.L356M|KCNQ2_ENST00000344425.5_Missense_Mutation_p.L356M|KCNQ2_ENST00000360480.3_Missense_Mutation_p.L356M|KCNQ2_ENST00000359689.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000357249.2_Missense_Mutation_p.L356M|KCNQ2_ENST00000370226.1_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													102	430					1.09269e-41	1.32845e-41	1	1	0	T	62065214	G	T	62065214	3	4	22	1	0	0	0	0	1	0	0	0	8127	991	35	2	1656	2	KCNQ2	20	62065214	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18899	62065214	960306	19767	21913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62070950C>T	ENST00000354587.3	-	6	1104		c.e6+1		KCNQ2_ENST00000359125.2_Splice_Site|KCNQ2_ENST00000370221.1_Splice_Site|KCNQ2_ENST00000370222.3_Splice_Site|KCNQ2_ENST00000370224.1_Splice_Site|KCNQ2_ENST00000430658.1_Splice_Site|KCNQ2_ENST00000344462.3_Splice_Site|KCNQ2_ENST00000344425.5_Splice_Site|KCNQ2_ENST00000360480.3_Splice_Site|KCNQ2_ENST00000359689.1_Splice_Site|KCNQ2_ENST00000357249.2_Splice_Site|KCNQ2_ENST00000370226.1_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													55	326					0	0	1	0	0	T	62070950	C	T	62070950	5	4	22	1	0	0	0	0	0	0	1	0	8127	579	20	2	1802	2	KCNQ2	20	62070950	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5736	62070950	954570	19768	21914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359125.2_Missense_Mutation_p.A295T|KCNQ2_ENST00000370221.1_Missense_Mutation_p.A295T|KCNQ2_ENST00000370222.3_Missense_Mutation_p.A295T|KCNQ2_ENST00000370224.1_Missense_Mutation_p.A295T|KCNQ2_ENST00000430658.1_Missense_Mutation_p.A295T|KCNQ2_ENST00000344462.3_Missense_Mutation_p.A295T|KCNQ2_ENST00000344425.5_Missense_Mutation_p.A295T|KCNQ2_ENST00000360480.3_Missense_Mutation_p.A295T|KCNQ2_ENST00000359689.1_Missense_Mutation_p.A295T|KCNQ2_ENST00000357249.2_Missense_Mutation_p.A295T|KCNQ2_ENST00000370226.1_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													89	424					0	0	1	0	0	T	62070995	C	T	62070995	3	4	22	1	0	0	0	0	1	0	0	0	8127	739	26	2	1847	2	KCNQ2	20	62070995	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45	62070995	954525	19769	21915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	529					0	0	1	0	0	A	62164956	G	A	62164956	2	1	22	1	0	0	0	0	0	0	0	1	12814	1049	37	1		1	PTK6	20	62164956	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93961	62164956	860564	19770	21916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	69					0	0	1	0	0	A	62166298	G	A	62166298	2	1	22	1	0	0	0	0	0	0	0	1	12814	1161	41	2		2	PTK6	20	62166298	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1342	62166298	859222	19771	21917											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													161	764					0	0	1	0	0	T	62172627	C	T	62172627	3	4	22	1	0	0	0	0	1	0	0	0	15208	536	19	1	272	1	SRMS	20	62172627	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6329	62172627	852893	19772	21918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62178461G>A	ENST00000217188.1	-	1	396	c.356_splice	c.e1+1	p.P119_splice		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													10	331					0	0	1	0	0	A	62178461	G	A	62178461	5	1	22	1	0	0	0	0	0	0	1	0	15208	1130	39	1	1142	1	SRMS	20	62178461	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5834	62178461	847059	19773	21919											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	189					0	0	1	0	0	T	62178549	C	T	62178549	3	4	22	1	0	0	0	0	1	0	0	0	15208	768	27	1	1230	1	SRMS	20	62178549	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	62178549	846971	19774	21920											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	78					1.64293e-13	1.77503e-13	1	1	0	T	62178609	G	T	62178609	3	4	22	1	0	0	0	0	1	0	0	0	15208	962	34	2	1290	2	SRMS	20	62178609	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	62178609	846911	19775	21921											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													139	576					0	0	1	0	0	T	62187575	C	T	62187575	3	4	22	1	0	0	0	0	1	0	0	0	2114	652	23	1	561	1	C20orf195	20	62187575	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8966	62187575	837945	19776	21922											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	852					0	0	1	0	0	A	62187886	G	A	62187886	2	1	22	1	0	0	0	0	0	0	0	1	2114	1074	38	1		1	C20orf195	20	62187886	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	311	62187886	837634	19777	21923											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62321794G>A	ENST00000318100.4	+	26	3240	c.2413_splice	c.e26+1	p.G805_splice	RTEL1-TNFRSF6B_ENST00000482936.1_Splice_Site_p.G805_splice|RTEL1_ENST00000370003.1_Splice_Site_p.G50_splice|RTEL1_ENST00000360203.5_Splice_Site_p.G805_splice|RTEL1_ENST00000370018.3_Splice_Site_p.G805_splice|RTEL1_ENST00000508582.2_Splice_Site_p.G829_splice			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													38	172					0	0	1	0	0	A	62321794	G	A	62321794	5	1	22	1	0	0	0	0	0	0	1	0	13772	1014	35	2	2511	2	RTEL1	20	62321794	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133908	62321794	703726	19778	21924											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	182					0	0	1	0	0	A	62372827	G	A	62372827	3	1	22	1	0	0	0	0	1	0	0	0	14602	971	34	2	396	2	SLC2A4RG	20	62372827	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51033	62372827	652693	19779	21925											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	99	398					0	0	1	0	0	A	62407098	G	A	62407098	2	1	22	1	0	0	0	0	0	0	0	1	17606	1103	39	1		1	ZBTB46	20	62407098	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34271	62407098	618422	19780	21926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	429					0	0	1	0	0	T	62421293	C	T	62421293	3	4	22	1	0	0	0	0	1	0	0	0	17606	652	23	1	967	1	ZBTB46	20	62421293	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14195	62421293	604227	19781	21927											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000351424.4_Missense_Mutation_p.S132N|TPD52L2_ENST00000352482.4_Missense_Mutation_p.S152N|TPD52L2_ENST00000346249.4_Missense_Mutation_p.S152N|TPD52L2_ENST00000369927.4_Missense_Mutation_p.S109N|TPD52L2_ENST00000358548.4_Missense_Mutation_p.S132N|TPD52L2_ENST00000348257.5_Missense_Mutation_p.S132N	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													36	178					0	0	1	0	0	A	62514152	G	A	62514152	3	1	22	1	0	0	0	0	1	0	0	0	16460	971	34	2	473	2	TPD52L2	20	62514152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92859	62514152	511368	19782	21928											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	309					0	0	1	0	0	A	62560750	G	A	62560750	3	1	22	1	0	0	0	0	1	0	0	0	4677	1087	38	1	199	1	DNAJC5	20	62560750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46598	62560750	464770	19783	21929											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	374					0	0	1	0	0	A	62560765	G	A	62560765	3	1	22	1	0	0	0	0	1	0	0	0	4677	1087	38	1	214	1	DNAJC5	20	62560765	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	62560765	464755	19784	21930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369888.1_Missense_Mutation_p.A781T|ZNF512B_ENST00000217130.3_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													25	292					0	0	1	0	0	T	62592748	C	T	62592748	3	4	22	1	0	0	0	0	1	0	0	0	18014	739	26	2	345	2	ZNF512B	20	62592748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31983	62592748	432772	19785	21931											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369888.1_Missense_Mutation_p.H563Y|ZNF512B_ENST00000217130.3_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													28	379					0	0	1	0	0	A	62594982	G	A	62594982	3	1	22	1	0	0	0	0	1	0	0	0	18014	1319	46	2	1023	2	ZNF512B	20	62594982	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2234	62594982	430538	19786	21932											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62595140A>T	ENST00000450537.1	-	9	1666		c.e9+1		ZNF512B_ENST00000369888.1_Splice_Site|ZNF512B_ENST00000217130.3_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													153	646					0	0	1	0	0	T	62595140	A	T	62595140	5	4	22	1	0	0	0	0	0	0	1	0	18014	405	14	5	1107	5	ZNF512B	20	62595140	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	158	62595140	430380	19787	21933											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369888.1_Missense_Mutation_p.K322T|ZNF512B_ENST00000217130.3_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													89	439					0	0	1	0	0	G	62597563	T	G	62597563	3	3	22	1	0	0	0	0	1	0	0	0	18014	1841	64	3	1765	3	ZNF512B	20	62597563	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2423	62597563	427957	19788	21934											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369888.1_Missense_Mutation_p.G131W|ZNF512B_ENST00000217130.3_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													43	223					6.48837e-15	7.06796e-15	1	1	0	A	62598231	C	A	62598231	3	1	22	1	0	0	0	0	1	0	0	0	18014	681	24	2	2343	2	ZNF512B	20	62598231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	668	62598231	427289	19789	21935											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343484.5_Missense_Mutation_p.R206W|TCEA2_ENST00000465111.1_3'UTR	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													74	303					0	0	1	0	0	T	62701711	C	T	62701711	3	4	22	1	0	0	0	0	1	0	0	0	15728	759	27	1	642	1	TCEA2	20	62701711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103480	62701711	323809	19790	21936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	282					0	0	1	0	0	A	62705215	G	A	62705215	2	1	22	1	0	0	0	0	0	0	0	1	13351	1103	39	1		1	RGS19	20	62705215	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3504	62705215	320305	19791	21937											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	269					0	0	1	0	0	A	62705620	G	A	62705620	2	1	22	1	0	0	0	0	0	0	0	1	13351	1078	38	1		1	RGS19	20	62705620	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	405	62705620	319900	19792	21938											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	549					0	0	1	0	0	T	62729775	C	T	62729775	3	4	22	1	0	0	0	0	1	0	0	0	10934	652	23	1	746	1	OPRL1	20	62729775	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24155	62729775	295745	19793	21939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	476					0	0	1	0	0	A	62729818	G	A	62729818	3	1	22	1	0	0	0	0	1	0	0	0	10934	1087	38	1	789	1	OPRL1	20	62729818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43	62729818	295702	19794	21940											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	214					7.87624e-14	8.52853e-14	1	1	0	T	62837056	G	T	62837056	3	4	22	1	0	0	0	0	1	0	0	0	10154	991	35	2	314	2	MYT1	20	62837056	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107238	62837056	188464	19795	21941											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	551					0	0	1	0	0	C	62838959	T	C	62838959	3	2	22	1	0	0	0	0	1	0	0	0	10154	1667	58	3	428	3	MYT1	20	62838959	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1903	62838959	186561	19796	21942											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	382					5.50884e-06	5.65664e-06	1	1	0	T	62839080	G	T	62839080	3	4	22	1	0	0	0	0	1	0	0	0	10154	933	33	2	549	2	MYT1	20	62839080	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121	62839080	186440	19797	21943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	91					0	0	1	0	0	C	62839313	T	C	62839313	3	2	22	1	0	0	0	0	1	0	0	0	10154	1580	55	3	782	3	MYT1	20	62839313	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	233	62839313	186207	19798	21944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													135	532					0	0	1	0	0	G	62843485	A	G	62843485	3	3	22	1	0	0	0	0	1	0	0	0	10154	159	6	3	1537	3	MYT1	20	62843485	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4172	62843485	182035	19799	21945											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	475					0	0	1	0	0	A	62848447	G	A	62848447	2	1	22	1	0	0	0	0	0	0	0	1	10154	991	35	2		2	MYT1	20	62848447	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4962	62848447	177073	19800	21946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	486					0	0	1	0	0	A	62850260	G	A	62850260	3	1	22	1	0	0	0	0	1	0	0	0	10154	1334	46	2		2	MYT1	20	62850260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1813	62850260	175260	19801	21947											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000328439.1_Intron|MYT1_ENST00000536311.1_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													21	86					0	0	1	0	0	T	62859375	C	T	62859375	3	4	22	1	0	0	0	0	1	0	0	0	10154	899	31	1		1	MYT1	20	62859375	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9115	62859375	166145	19802	21948											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	243					0	0	1	0	0	T	62863731	C	T	62863731	3	4	22	1	0	0	0	0	1	0	0	0	10154	594	21	2	2956	2	MYT1	20	62863731	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4356	62863731	161789	19803	21949											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	54					0	0	1	0	0	A	62868708	G	A	62868708	3	1	22	1	0	0	0	0	1	0	0	0	10154	1175	41	2	3132	2	MYT1	20	62868708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4977	62868708	156812	19804	21950											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													127	638					0	0	1	0	0	T	62871223	C	T	62871223	2	4	22	1	0	0	0	0	0	0	0	1	10154	845	30	2		2	MYT1	20	62871223	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2515	62871223	154297	19805	21951											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000299468.7_Missense_Mutation_p.G106D|PCMTD2_ENST00000369758.3_Missense_Mutation_p.G106D	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													42	193					0	0	1	0	0	A	62895791	G	A	62895791	3	1	22	1	0	0	0	0	1	0	0	0	11634	1261	44	2	323	2	PCMTD2	20	62895791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24568	62895791	129729	19806	21952											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000299468.7_Missense_Mutation_p.A213D|PCMTD2_ENST00000369758.3_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													66	255					1.33661e-31	1.57467e-31	1	1	0	A	62899295	C	A	62899295	3	1	22	1	0	0	0	0	1	0	0	0	11634	797	28	2	652	2	PCMTD2	20	62899295	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3504	62899295	126225	19807	21953											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:10914364G>A	ENST00000298232.7	-	20	1668	c.1302_splice	c.e20+1	p.S434_splice	TPTE_ENST00000342420.5_Splice_Site_p.S414_splice|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Splice_Site_p.S452_splice	NM_199259.2	NP_954868.1	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													19	220					0	0	1	0	0	A	10914364	G	A	10914364	5	1	22	1	0	0	0	0	0	0	1	0	16491	1072	37	1	316	1	TPTE	21	10914364	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08		10914364	37215531	19808	21954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:10973777C>A	ENST00000298232.7	-	4	325		c.e4-1		TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000361285.4_Splice_Site	NM_199259.2	NP_954868.1	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													19	294					3.8784e-16	4.25319e-16	1	1	0	A	10973777	C	A	10973777	5	1	22	1	0	0	0	0	0	0	1	0	16491	579	20	2		2	TPTE	21	10973777	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59413	10973777	37156118	19809	21955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	2134					1.77063e-15	1.9355e-15	1	1	0	A	11039050	C	A	11039050	1	1	22	0	1	0	0	0	0	0	0	0	1290	609	21	2		2	BAGE2	21	11039050	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65273	11039050	37090845	19810	21956											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	2088					1.08312e-15	1.1851e-15	1	1	0	A	11039076	C	A	11039076	1	1	22	0	1	0	0	0	0	0	0	0	1290	928	32	2		2	BAGE2	21	11039076	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26	11039076	37090819	19811	21957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	1501					0	0	1	0	0	T	11039272	C	T	11039272	1	4	22	0	1	0	0	0	0	0	0	0	1290	812	28	2		2	BAGE2	21	11039272	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	196	11039272	37090623	19812	21958											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	959					1.32181e-22	1.49747e-22	1	1	0	A	11049580	C	A	11049580	1	1	22	0	1	0	0	0	0	0	0	0	1290	912	32	2		2	BAGE2	21	11049580	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10308	11049580	37080315	19813	21959											
BAGE2	85319	broad.mit.edu	37	chr21	11058353	11058353	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaggagagaaatctcttTataaaaccttgaaaaggaat	8	4	1	2	rs79433933	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:11058353T>C	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)		GAAATCTCTTTATAAAACCTT	0.343													28	510					0	0	1	0	0	C	11058353	T	C	11058353	1	2	22	0	1	0	0	0	0	0	0	0	1290	1769	61	3		3	BAGE2	21	11058353	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8773	11058353	37071542	19814	21960											
BAGE2	85319	broad.mit.edu	37	chr21	11058447	11058450	+	RNA	DEL	AAAC	AAAC	-													aatggaacctgcaaaatattAaacaaaggattcgttagaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:11058447_11058450delAAAC	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)		GCAAAATATTAAACAAAGGATTCG	0.294													10	93	---	---	---	---						-	11058450	AAAC	-	11058447	6	5	22	0	1	1	0	1	0	0	0	0	1290	377	13	0		0	BAGE2	21	11058447	RNA	DEL	AAAC	TCGA-IB-7651-01A-11D-2154-08	94	11058447	37071448	19815	21961											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	1229					0	0	1	0	0	A	11098737	T	A	11098737	1	1	22	0	1	0	0	0	0	0	0	0	1290	1435	50	5		5	BAGE2	21	11098737	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	40290	11098737	37031158	19816	21962											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	135					7.41877e-09	7.77385e-09	1	1	0	T	15592002	G	T	15592002	3	4	22	1	0	0	0	0	1	0	0	0	13164	1174	41	2	221	2	RBM11	21	15592002	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4493265	15592002	32537893	19817	21963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	372					0	0	1	0	0	G	15747996	A	G	15747996	3	3	22	1	0	0	0	0	1	0	0	0	7449	217	8	3	698	3	HSPA13	21	15747996	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	155994	15747996	32381899	19818	21964											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	352					0	0	1	0	0	C	15753528	A	C	15753528	3	2	22	1	0	0	0	0	1	0	0	0	7449	14	1	3	1069	3	HSPA13	21	15753528	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5532	15753528	32376367	19819	21965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400199.1_Missense_Mutation_p.S272N|NRIP1_ENST00000318948.4_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													70	383					0	0	1	0	0	T	16339699	C	T	16339699	3	4	22	1	0	0	0	0	1	0	0	0	10700	797	28	2	2665	2	NRIP1	21	16339699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	586171	16339699	31790196	19820	21966											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000285679.6_Missense_Mutation_p.H268Y|USP25_ENST00000400183.2_Missense_Mutation_p.H268Y|USP25_ENST00000351097.5_Intron|USP25_ENST00000547201.1_3'UTR			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													30	151					0	0	1	0	0	T	17181149	C	T	17181149	3	4	22	1	0	0	0	0	1	0	0	0	17116	478	17	2	832	2	USP25	21	17181149	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	841450	17181149	30948746	19821	21967											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000285679.6_Missense_Mutation_p.M280I|USP25_ENST00000400183.2_Missense_Mutation_p.M280I|USP25_ENST00000351097.5_Intron|USP25_ENST00000547201.1_3'UTR			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													27	159					0	0	1	0	0	A	17181187	G	A	17181187	3	1	22	1	0	0	0	0	1	0	0	0	17116	1290	45	2	870	2	USP25	21	17181187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38	17181187	30948708	19822	21968											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348354.6_Silent_p.K18K|BTG3_ENST00000464058.1_5'UTR	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													73	341					0	0	1	0	0	C	18981409	T	C	18981409	2	2	22	1	0	0	0	0	0	0	0	1	1558	1722	60	3		3	BTG3	21	18981409	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1800222	18981409	29148486	19823	21969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400558.3_Silent_p.G57G|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000400559.3_Silent_p.G57G	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													54	312					0	0	1	0	0	A	19169392	G	A	19169392	2	1	22	1	0	0	0	0	0	0	0	1	2148	1190	42	2		2	C21orf91	21	19169392	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	187983	19169392	28960503	19824	21970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002763.2	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													54	248					0	0	1	0	0	T	19642312	C	T	19642312	3	4	22	1	0	0	0	0	1	0	0	0	16306	893	31	1	29	1	TMPRSS15	21	19642312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	472920	19642312	28487583	19825	21971											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002763.2	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													77	321					0	0	1	0	0	T	19642342	C	T	19642342	3	4	22	1	0	0	0	0	1	0	0	0	16306	661	23	1	59	1	TMPRSS15	21	19642342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30	19642342	28487553	19826	21972											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002763.2	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													60	331					0	0	1	0	0	T	19666603	C	T	19666603	3	4	22	1	0	0	0	0	1	0	0	0	16306	768	27	1	609	1	TMPRSS15	21	19666603	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24261	19666603	28463292	19827	21973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002763.2	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													14	222					0	0	1	0	0	G	19755999	A	G	19755999	2	3	22	1	0	0	0	0	0	0	0	1	16306	446	16	3		3	TMPRSS15	21	19755999	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	89396	19755999	28373896	19828	21974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Silent_p.E178E	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													42	237					0	0	1	0	0	A	22658710	G	A	22658710	2	1	22	1	0	0	0	0	0	0	0	1	10250	991	35	2		2	NCAM2	21	22658710	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2902711	22658710	25471185	19829	21975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	264					2.05212e-20	2.2997e-20	1	1	0	T	22664525	G	T	22664525	4	4	22	1	0	0	0	0	0	1	0	0	10250	943	33	2	601	2	NCAM2	21	22664525	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5815	22664525	25465370	19830	21976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	380					0	0	1	0	0	G	22746295	T	G	22746295	3	3	22	1	0	0	0	0	1	0	0	0	10250	1493	52	3	1191	3	NCAM2	21	22746295	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81770	22746295	25383600	19831	21977											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	200					0	0	1	0	0	T	22804437	C	T	22804437	3	4	22	1	0	0	0	0	1	0	0	0	10250	855	30	2	1536	2	NCAM2	21	22804437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58142	22804437	25325458	19832	21978											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	243					0	0	1	0	0	G	22840987	A	G	22840987	2	3	22	1	0	0	0	0	0	0	0	1	10250	40	2	3		3	NCAM2	21	22840987	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36550	22840987	25288908	19833	21979											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	230					0	0	1	0	0	C	22849623	A	C	22849623	3	2	22	1	0	0	0	0	1	0	0	0	10250	69	3	3	1966	3	NCAM2	21	22849623	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8636	22849623	25280272	19834	21980	148	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	219					0	0	1	0	0	T	22849626	C	T	22849626	2	4	22	1	0	0	0	0	0	0	0	1	10250	506	18	2		2	NCAM2	21	22849626	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3	22849626	25280269	19835	21981	148	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_542984.2	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													5	178					0	0	1	0	0	A	26960040	G	A	26960040	3	1	22	1	0	0	0	0	1	0	0	0	9851	1059	37	1	82	1	MRPL39	21	26960040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4110414	26960040	21169855	19836	21982											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000425221.2_Missense_Mutation_p.A68V|JAM2_ENST00000400532.1_Missense_Mutation_p.A104V|JAM2_ENST00000312957.5_Missense_Mutation_p.A104V	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													81	363					0	0	1	0	0	T	27066137	C	T	27066137	3	4	22	1	0	0	0	0	1	0	0	0	7987	768	27	1	325	1	JAM2	21	27066137	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106097	27066137	21063758	19837	21983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000425221.2_Silent_p.N157N|JAM2_ENST00000400532.1_Silent_p.N193N|JAM2_ENST00000312957.5_Silent_p.N193N	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													92	404					0	0	1	0	0	C	27071173	T	C	27071173	2	2	22	1	0	0	0	0	0	0	0	1	7987	1403	49	3		3	JAM2	21	27071173	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5036	27071173	21058722	19838	21984											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000284971.3_5'UTR|ATP5J_ENST00000400087.3_Intron|ATP5J_ENST00000400090.3_Intron|ATP5J_ENST00000400099.1_Intron|ATP5J_ENST00000400093.3_Intron|GABPA_ENST00000354828.3_5'UTR			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													5	20					0	0	1	0	0	T	27107264	C	T	27107264	1	4	22	1	0	0	0	0	0	0	0	0	1157	710	25	2		2	ATP5J	21	27107264	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36091	27107264	21022631	19839	21985											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	301					0	0	1	0	0	T	27136617	C	T	27136617	3	4	22	1	0	0	0	0	1	0	0	0	6192	652	23	1	925	1	GABPA	21	27136617	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29353	27136617	20993278	19840	21986											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													167	714					0	0	1	0	0	G	27141374	T	G	27141374	3	3	22	1	0	0	0	0	1	0	0	0	6192	1841	64	3	1230	3	GABPA	21	27141374	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4757	27141374	20988521	19841	21987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354192.3_Missense_Mutation_p.P234H|APP_ENST00000359726.3_Missense_Mutation_p.P309H|APP_ENST00000439274.2_Missense_Mutation_p.P309H|APP_ENST00000346798.3_Missense_Mutation_p.P365H|APP_ENST00000448388.2_Missense_Mutation_p.P255H|APP_ENST00000348990.5_Missense_Mutation_p.P290H|APP_ENST00000440126.3_Missense_Mutation_p.P341H|APP_ENST00000357903.3_Missense_Mutation_p.P346H	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													46	212					8.48111e-28	9.83746e-28	1	1	0	T	27354787	G	T	27354787	3	4	22	1	0	0	0	0	1	0	0	0	812	1000	35	2	1258	2	APP	21	27354787	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	213413	27354787	20775108	19842	21988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354192.3_Missense_Mutation_p.A217T|APP_ENST00000359726.3_Missense_Mutation_p.A273T|APP_ENST00000439274.2_Missense_Mutation_p.A217T|APP_ENST00000346798.3_Missense_Mutation_p.A273T|APP_ENST00000474136.1_5'UTR|APP_ENST00000448388.2_Missense_Mutation_p.A238T|APP_ENST00000348990.5_Missense_Mutation_p.A273T|APP_ENST00000440126.3_Missense_Mutation_p.A268T|APP_ENST00000357903.3_Missense_Mutation_p.A273T	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													23	133					0	0	1	0	0	T	27394204	C	T	27394204	3	4	22	1	0	0	0	0	1	0	0	0	812	710	25	2	1547	2	APP	21	27394204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39417	27394204	20735691	19843	21989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:28210028C>T	ENST00000284984.2	-	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	925	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													117	511					0	0	1	0	0	T	28210028	C	T	28210028	3	4	22	1	0	0	0	0	1	0	0	0	254	623	22	2	133	2	ADAMTS1	21	28210028	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	815824	28210028	19919867	19844	21990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	251					5.89852e-23	6.69324e-23	1	1	0	T	28296425	G	T	28296425	3	4	22	1	0	0	0	0	1	0	0	0	268	1174	41	2	56	2	ADAMTS5	21	28296425	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86397	28296425	19833470	19845	21991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													155	589					0	0	1	0	0	A	28302267	G	A	28302267	2	1	22	1	0	0	0	0	0	0	0	1	268	1079	38	1		1	ADAMTS5	21	28302267	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5842	28302267	19827628	19846	21992											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399976.2_Missense_Mutation_p.V510I|USP16_ENST00000399975.3_Missense_Mutation_p.V509I|USP16_ENST00000535828.1_Missense_Mutation_p.V139I	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													26	272					0	0	1	0	0	A	30419159	G	A	30419159	3	1	22	1	0	0	0	0	1	0	0	0	17107	1377	48	2	1578	2	USP16	21	30419159	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2116892	30419159	17710736	19847	21993											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399976.2_Missense_Mutation_p.F617L|USP16_ENST00000399975.3_Missense_Mutation_p.F616L|USP16_ENST00000535828.1_Missense_Mutation_p.F246L	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													75	647					4.18771e-30	4.90557e-30	1	1	0	A	30419482	C	A	30419482	3	1	22	1	0	0	0	0	1	0	0	0	17107	912	32	2	1901	2	USP16	21	30419482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	323	30419482	17710413	19848	21994											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30433572A>G	ENST00000286788.4	-	13	1656		c.e13+1		CCT8_ENST00000540844.1_Splice_Site|CCT8_ENST00000470450.1_Splice_Site|CCT8_ENST00000542732.1_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													28	257					0	0	1	0	0	G	30433572	A	G	30433572	5	3	22	1	0	0	0	0	0	0	1	0	2982	405	14	3	207	3	CCT8	21	30433572	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14090	30433572	17696323	19849	21995											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	333					0	0	1	0	0	G	30698591	A	G	30698591	3	3	22	1	0	0	0	0	1	0	0	0	1281	159	6	3	452	3	BACH1	21	30698591	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	265019	30698591	17431304	19850	21996											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	305					0	0	1	0	0	A	31538308	G	A	31538308	4	1	22	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	19851	21997											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	349					1.04553e-52	1.30113e-52	1	1	0	T	31654660	G	T	31654660	3	4	22	1	0	0	0	0	1	0	0	0	8586	962	34	2	177	2	KRTAP24-1	21	31654660	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116352	31654660	16475235	19852	21998											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	632					0	0	1	0	0	T	31744473	C	T	31744473	3	4	22	1	0	0	0	0	1	0	0	0	8566	768	27	1	472	1	KRTAP13-2	21	31744473	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89813	31744473	16385422	19853	21999											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	342					0.000673444	0.000681208	1	1	0	A	31768629	C	A	31768629	2	1	22	1	0	0	0	0	0	0	0	1	8565	668	24	2		2	KRTAP13-1	21	31768629	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24156	31768629	16361266	19854	22000											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													133	511					0	0	1	0	0	T	31802628	C	T	31802628	3	4	22	1	0	0	0	0	1	0	0	0	8568	855	30	2	37	2	KRTAP13-4	21	31802628	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33999	31802628	16327267	19855	22001											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	324					1.61788e-16	1.7777e-16	1	1	0	A	31812700	C	A	31812700	3	1	22	1	0	0	0	0	1	0	0	0	8569	680	24	2	57	2	KRTAP15-1	21	31812700	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10072	31812700	16317195	19856	22002											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	523					0	0	1	0	0	C	31812852	A	C	31812852	3	2	22	1	0	0	0	0	1	0	0	0	8569	330	12	3	209	3	KRTAP15-1	21	31812852	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	152	31812852	16317043	19857	22003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	1708					3.5997e-14	3.90403e-14	1	1	0	A	31852458	C	A	31852458	3	1	22	1	0	0	0	0	1	0	0	0	8571	855	30	2	95	2	KRTAP19-1	21	31852458	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39606	31852458	16277437	19858	22004											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	886					9.59377e-39	1.15749e-38	1	1	0	T	31869270	G	T	31869270	4	4	22	1	0	0	0	0	0	1	0	0	8574	963	34	2	98	2	KRTAP19-4	21	31869270	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16812	31869270	16260625	19859	22005											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	614					5.26018e-13	5.6673e-13	1	1	0	T	32007688	G	T	32007688	3	4	22	1	0	0	0	0	1	0	0	0	8580	1232	43	2	108	2	KRTAP20-2	21	32007688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138418	32007688	16122207	19860	22006											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													181	807					1.85097e-90	2.37618e-90	1	1	0	T	32127556	G	T	32127556	2	4	22	1	0	0	0	0	0	0	0	1	8581	958	34	2		2	KRTAP21-1	21	32127556	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119868	32127556	16002339	19861	22007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	276					0	0	1	0	0	A	32253481	G	A	32253481	2	1	22	1	0	0	0	0	0	0	0	1	8560	1195	42	2		2	KRTAP11-1	21	32253481	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125925	32253481	15876414	19862	22008											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	733					0	0	1	0	0	T	32410635	C	T	32410635	3	4	22	1	0	0	0	0	1	0	0	0	8578	739	26	2	67	2	KRTAP19-8	21	32410635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157154	32410635	15719260	19863	22009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	263					0	0	1	0	0	T	32492816	C	T	32492816	3	4	22	1	0	0	0	0	1	0	0	0	15950	768	27	1	133	1	TIAM1	21	32492816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82181	32492816	15637079	19864	22010											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	238					6.1719e-39	7.45173e-39	1	1	0	A	32526607	C	A	32526607	3	1	22	1	0	0	0	0	1	0	0	0	15950	680	24	2	1694	2	TIAM1	21	32526607	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33791	32526607	15603288	19865	22011											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	197					0	0	1	0	0	T	32537345	C	T	32537345	2	4	22	1	0	0	0	0	0	0	0	1	15950	912	32	2		2	TIAM1	21	32537345	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10738	32537345	15592550	19866	22012											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	562					0	0	1	0	0	A	32624336	G	A	32624336	3	1	22	1	0	0	0	0	1	0	0	0	15950	1087	38	1	3738	1	TIAM1	21	32624336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86991	32624336	15505559	19867	22013											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000607686.1_Missense_Mutation_p.R38W|C21orf59_ENST00000290155.3_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													5	22					0	0	1	0	0	A	33984442	G	A	33984442	3	1	22	1	0	0	0	0	1	0	0	0	2144	1086	38	1	788	1	C21orf59	21	33984442	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1360106	33984442	14145453	19868	22014											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AP000295.9_ENST00000433395.2_Silent_p.S21S|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000413881.1_Missense_Mutation_p.S42R|IFNAR2_ENST00000342101.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000420068.1_3'UTR|IFNAR2_ENST00000382264.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000342136.4_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													34	144					0	0	1	0	0	C	34619141	A	C	34619141	3	2	22	1	0	0	0	0	1	0	0	0	7589	188	7	3	354	3	IFNAR2	21	34619141	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	634699	34619141	13510754	19869	22015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000382241.3_Silent_p.L449L|IFNAR2_ENST00000404220.3_3'UTR|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													56	1480					0	0	1	0	0	T	34635602	C	T	34635602	2	4	22	1	0	0	0	0	0	0	0	1	7589	796	28	2		2	IFNAR2	21	34635602	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16461	34635602	13494293	19870	22016											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	570					0	0	1	0	0	A	34652146	G	A	34652146	3	1	22	1	0	0	0	0	1	0	0	0	7665	1059	37	1	435	1	IL10RB	21	34652146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16544	34652146	13477749	19871	22017											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	383					6.99958e-10	7.39112e-10	1	1	0	T	34725173	G	T	34725173	3	4	22	1	0	0	0	0	1	0	0	0	7588	971	34	2	1287	2	IFNAR1	21	34725173	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73027	34725173	13404722	19872	22018											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	265					0	0	1	0	0	C	34727821	A	C	34727821	3	2	22	1	0	0	0	0	1	0	0	0	7588	14	1	3	1682	3	IFNAR1	21	34727821	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2648	34727821	13402074	19873	22019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402202.1_Nonsense_Mutation_p.C62*|DNAJC28_ENST00000381947.3_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													62	631					6.75472e-32	7.9656e-32	1	1	0	T	34861515	G	T	34861515	4	4	22	1	0	0	0	0	0	1	0	0	4673	963	34	2	984	2	DNAJC28	21	34861515	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133694	34861515	13268380	19874	22020											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381679.4_Silent_p.T509T|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.T509T	NM_138927.1	NP_620305.1	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													82	716					0	0	1	0	0	A	34923064	G	A	34923064	2	1	22	1	0	0	0	0	0	0	0	1	14980	1045	37	1		1	SON	21	34923064	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61549	34923064	13206831	19875	22021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381679.4_Missense_Mutation_p.V2005I|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.V2005I	NM_138927.1	NP_620305.1	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													91	303					0	0	1	0	0	A	34927550	G	A	34927550	3	1	22	1	0	0	0	0	1	0	0	0	14980	1261	44	2	6023	2	SON	21	34927550	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4486	34927550	13202345	19876	22022											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CRYZL1_ENST00000413017.2_Missense_Mutation_p.A41V|CRYZL1_ENST00000381540.3_Missense_Mutation_p.A41V|CRYZL1_ENST00000445393.1_Missense_Mutation_p.A41V|CRYZL1_ENST00000290244.5_Missense_Mutation_p.A41V|CRYZL1_ENST00000381554.3_Missense_Mutation_p.A41V|AP000304.12_ENST00000429238.1_Intron			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													47	242					0	0	1	0	0	A	34997011	G	A	34997011	3	1	22	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	19877	22023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399352.1_Missense_Mutation_p.V57A|ITSN1_ENST00000381285.4_Missense_Mutation_p.V57A|ITSN1_ENST00000437442.2_Missense_Mutation_p.V57A|ITSN1_ENST00000379960.5_Missense_Mutation_p.V57A|ITSN1_ENST00000399338.4_Missense_Mutation_p.V57A|ITSN1_ENST00000399355.2_Missense_Mutation_p.V57A|ITSN1_ENST00000399353.1_Missense_Mutation_p.V57A|ITSN1_ENST00000399367.3_Missense_Mutation_p.V57A|ITSN1_ENST00000381291.4_Missense_Mutation_p.V57A|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.V57A|ITSN1_ENST00000399326.3_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													55	151					0	0	1	0	0	C	35094941	T	C	35094941	3	2	22	1	0	0	0	0	1	0	0	0	7970	1725	60	3	180	3	ITSN1	21	35094941	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	97930	35094941	13034954	19878	22024											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437442.2_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399326.3_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399367.3_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399349.1_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399353.1_Nonsense_Mutation_p.R950*|ITSN1_ENST00000399355.2_Nonsense_Mutation_p.R992*|ITSN1_ENST00000381285.4_Nonsense_Mutation_p.R992*|ITSN1_ENST00000379960.5_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Nonsense_Mutation_p.R992*|ITSN1_ENST00000399352.1_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													20	201					0	0	1	0	0	T	35191585	C	T	35191585	4	4	22	1	0	0	0	0	0	1	0	0	7970	760	27	1	3064	1	ITSN1	21	35191585	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96644	35191585	12938310	19879	22025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437442.2_Silent_p.L1111L|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Silent_p.L1111L|ITSN1_ENST00000399349.1_Silent_p.L1040L|ITSN1_ENST00000399353.1_Silent_p.L1074L|ITSN1_ENST00000399355.2_Silent_p.L1045L|ITSN1_ENST00000381285.4_Silent_p.L1116L|ITSN1_ENST00000379960.5_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Silent_p.L1116L|ITSN1_ENST00000399352.1_Silent_p.L1111L	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													100	407					0	0	1	0	0	T	35202044	C	T	35202044	2	4	22	1	0	0	0	0	0	0	0	1	7970	796	28	2		2	ITSN1	21	35202044	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10459	35202044	12927851	19880	22026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437442.2_Missense_Mutation_p.D1209Y|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.D1209Y|ITSN1_ENST00000399349.1_Missense_Mutation_p.D1138Y|ITSN1_ENST00000399353.1_Missense_Mutation_p.D1172Y|ITSN1_ENST00000399355.2_Missense_Mutation_p.D1143Y|ITSN1_ENST00000381285.4_Missense_Mutation_p.D1214Y|ITSN1_ENST00000379960.5_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Missense_Mutation_p.D1214Y|ITSN1_ENST00000399352.1_Missense_Mutation_p.D1209Y	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													24	339					3.28513e-13	3.54196e-13	1	1	0	T	35208915	G	T	35208915	3	4	22	1	0	0	0	0	1	0	0	0	7970	942	33	2	3750	2	ITSN1	21	35208915	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6871	35208915	12920980	19881	22027											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437442.2_Missense_Mutation_p.Q1317H|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.Q1317H|ITSN1_ENST00000381285.4_Missense_Mutation_p.Q1322H|AP000304.12_ENST00000429238.1_Intron	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													20	117					2.94398e-08	3.0722e-08	1	1	0	T	35237530	G	T	35237530	3	4	22	1	0	0	0	0	1	0	0	0	7970	962	34	2	4094	2	ITSN1	21	35237530	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28615	35237530	12892365	19882	22028											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437442.2_Intron|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1423D|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1428D|AP000304.12_ENST00000429238.1_Intron	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													93	382					1.2711e-46	1.5624e-46	1	1	0	T	35247768	G	T	35247768	3	4	22	1	0	0	0	0	1	0	0	0	7970	933	33	2	4420	2	ITSN1	21	35247768	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10238	35247768	12882127	19883	22029											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000437442.2_Missense_Mutation_p.M1454I|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.M1510I|ITSN1_ENST00000381285.4_Missense_Mutation_p.M1515I|AP000304.12_ENST00000429238.1_Intron	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													41	159					0	0	1	0	0	A	35254750	G	A	35254750	3	1	22	1	0	0	0	0	1	0	0	0	7970	1377	48	2	4685	2	ITSN1	21	35254750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6982	35254750	12875145	19884	22030											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35467703C>T	ENST00000381151.3	+	2	718	c.206C>T	c.(205-207)gCa>gTa	p.A69V	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	69						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													25	446					0	0	1	0	0	T	35467703	C	T	35467703	3	4	22	1	0	0	0	0	1	0	0	0	14721	710	25	2	208	2	SLC5A3	21	35467703	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212953	35467703	12662192	19885	22031											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35469406G>T	ENST00000381151.3	+	2	2421	c.1909G>T	c.(1909-1911)Gct>Tct	p.A637S	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	637						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													37	388					1.69901e-12	1.82497e-12	1	1	0	T	35469406	G	T	35469406	3	4	22	1	0	0	0	0	1	0	0	0	14721	971	34	2	1911	2	SLC5A3	21	35469406	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1703	35469406	12660489	19886	22032											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35742840T>G	ENST00000290310.2	+	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	21					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													51	416					0	0	1	0	0	G	35742840	T	G	35742840	2	3	22	1	0	0	0	0	0	0	0	1	8067	1596	56	3		3	KCNE2	21	35742840	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	273434	35742840	12387055	19887	22033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399286.2_Nonsense_Mutation_p.W87*|KCNE1_ENST00000432085.1_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399284.1_Nonsense_Mutation_p.W87*|KCNE1_ENST00000416357.2_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399289.3_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													92	321					0	0	1	0	0	T	35821672	C	T	35821672	4	4	22	1	0	0	0	0	0	1	0	0	8065	740	26	2	132	2	KCNE1	21	35821672	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78832	35821672	12308223	19888	22034											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000482533.1_Silent_p.T112T|RCAN1_ENST00000313806.4_Silent_p.T247T|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000381132.2_Silent_p.T192T|RCAN1_ENST00000399272.1_Silent_p.T166T|RCAN1_ENST00000487990.1_Silent_p.T112T|RCAN1_ENST00000443408.2_Silent_p.T112T|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													40	679					0	0	1	0	0	T	35890400	C	T	35890400	2	4	22	1	0	0	0	0	0	0	0	1	13220	755	27	1		1	RCAN1	21	35890400	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68728	35890400	12239495	19889	22035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	228					0	0	1	0	0	A	36088748	G	A	36088748	3	1	22	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	19890	22036											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332131.4_Silent_p.E372E|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000481477.1_5'UTR|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													58	510					0	0	1	0	0	T	37410520	C	T	37410520	2	4	22	1	0	0	0	0	0	0	0	1	14187	912	32	2		2	SETD4	21	37410520	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1321772	37410520	10719375	19891	22037											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332131.4_Nonsense_Mutation_p.G285*|SETD4_ENST00000399201.1_Nonsense_Mutation_p.G261*|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399207.1_Nonsense_Mutation_p.G285*|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399212.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000399208.2_Nonsense_Mutation_p.G285*|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													17	211					1.5739e-10	1.67034e-10	1	1	0	A	37416128	C	A	37416128	4	1	22	1	0	0	0	0	0	1	0	0	14187	661	23	4	512	4	SETD4	21	37416128	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5608	37416128	10713767	19892	22038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332131.4_Silent_p.T85T|SETD4_ENST00000399201.1_Silent_p.T61T|SETD4_ENST00000399207.1_Silent_p.T85T|SETD4_ENST00000481477.1_Intron|SETD4_ENST00000399212.1_Silent_p.T61T|SETD4_ENST00000399208.2_Silent_p.T85T|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													124	1088					0	0	1	0	0	T	37420647	C	T	37420647	2	4	22	1	0	0	0	0	0	0	0	1	14187	639	23	1		1	SETD4	21	37420647	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4519	37420647	10709248	19893	22039											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	192					3.28513e-13	3.54196e-13	1	1	0	T	37537005	G	T	37537005	5	4	22	1	0	0	0	0	0	0	1	0	4735	956	33	2		2	DOPEY2	21	37537005	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116358	37537005	10592890	19894	22040											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	304					0	0	1	0	0	A	37617678	G	A	37617678	3	1	22	1	0	0	0	0	1	0	0	0	4735	1058	37	1	3470	1	DOPEY2	21	37617678	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80673	37617678	10512217	19895	22041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	232					0	0	1	0	0	A	37617780	G	A	37617780	3	1	22	1	0	0	0	0	1	0	0	0	4735	943	33	2	3572	2	DOPEY2	21	37617780	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102	37617780	10512115	19896	22042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	213					0	0	1	0	0	A	37617836	G	A	37617836	2	1	22	1	0	0	0	0	0	0	0	1	4735	1074	38	1		1	DOPEY2	21	37617836	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56	37617836	10512059	19897	22043											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	223					0	0	1	0	0	T	37620829	C	T	37620829	3	4	22	1	0	0	0	0	1	0	0	0	4735	536	19	1	5039	1	DOPEY2	21	37620829	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2993	37620829	10509066	19898	22044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37717329G>T	ENST00000400485.1	+	8	1081	c.1005_splice	c.e8+1	p.R335_splice	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													8	173					0.00448238	0.00451339	1	1	0	T	37717329	G	T	37717329	5	4	22	1	0	0	0	0	0	0	1	0	9752	1246	43	2	1035	2	MORC3	21	37717329	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96500	37717329	10412566	19899	22045											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	396					0	0	1	0	0	A	37741529	G	A	37741529	2	1	22	1	0	0	0	0	0	0	0	1	9752	933	33	2		2	MORC3	21	37741529	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24200	37741529	10388366	19900	22046											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37763902G>A	ENST00000314103.4	+	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)	105					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													22	162					0	0	1	0	0	A	37763902	G	A	37763902	3	1	22	1	0	0	0	0	1	0	0	0	3334	1087	38	1	323	1	CHAF1B	21	37763902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22373	37763902	10365993	19901	22047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37769717A>G	ENST00000314103.4	+	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)	162					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													10	146					0	0	1	0	0	G	37769717	A	G	37769717	2	3	22	1	0	0	0	0	0	0	0	1	3334	11	1	3		3	CHAF1B	21	37769717	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5815	37769717	10360178	19902	22048											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37781761C>T	ENST00000314103.4	+	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)	306					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													224	766					0	0	1	0	0	T	37781761	C	T	37781761	3	4	22	1	0	0	0	0	1	0	0	0	3334	478	17	2	951	2	CHAF1B	21	37781761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12044	37781761	10348134	19903	22049											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000336648.3_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													49	462					0	0	1	0	0	G	38132072	A	G	38132072	3	3	22	1	0	0	0	0	1	0	0	0	7254	188	7	3	441	3	HLCS	21	38132072	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	350311	38132072	9997823	19904	22050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000336648.3_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													51	347					0	0	1	0	0	A	38139572	G	A	38139572	3	1	22	1	0	0	0	0	1	0	0	0	7254	1377	48	2	734	2	HLCS	21	38139572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7500	38139572	9990323	19905	22051											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000336648.3_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													34	325					3.21399e-22	3.63327e-22	1	1	0	T	38309528	G	T	38309528	3	4	22	1	0	0	0	0	1	0	0	0	7254	1261	44	2	1995	2	HLCS	21	38309528	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169956	38309528	9820367	19906	22052											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355666.1_Missense_Mutation_p.Y665H|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.Y665H|TTC3_ENST00000540756.1_Missense_Mutation_p.Y355H	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													84	342					0	0	1	0	0	C	38519880	T	C	38519880	3	2	22	1	0	0	0	0	1	0	0	0	16759	1406	49	3	2075	3	TTC3	21	38519880	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	210352	38519880	9610015	19907	22053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355666.1_Missense_Mutation_p.R1161H|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_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													100	961					0	0	1	0	0	A	38537998	G	A	38537998	3	1	22	1	0	0	0	0	1	0	0	0	16759	1145	40	1	3608	1	TTC3	21	38537998	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18118	38537998	9591897	19908	22054											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355666.1_Missense_Mutation_p.Q1310K|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_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													64	584					9.65139e-37	1.15646e-36	1	1	0	A	38538444	C	A	38538444	3	1	22	1	0	0	0	0	1	0	0	0	16759	827	29	2	4054	2	TTC3	21	38538444	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	446	38538444	9591451	19909	22055											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38884724C>T	ENST00000339659.3	+	11	3625	c.2155C>T	c.(2155-2157)Cct>Tct	p.P719S	DYRK1A_ENST00000455387.2_Missense_Mutation_p.P500S|DYRK1A_ENST00000398960.2_Missense_Mutation_p.P728S|DYRK1A_ENST00000338785.3_3'UTR	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	728					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													32	284					0	0	1	0	0	T	38884724	C	T	38884724	3	4	22	1	0	0	0	0	1	0	0	0	4880	855	30	2	2308	2	DYRK1A	21	38884724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	346280	38884724	9245171	19910	22056											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38997550G>A	ENST00000400482.3	-	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	395					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													155	589					0	0	1	0	0	A	38997550	G	A	38997550	2	1	22	1	0	0	0	0	0	0	0	1	8099	1020	36	2		2	KCNJ6	21	38997550	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112826	38997550	9132345	19911	22057											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:39671643A>T	ENST00000398930.1	+	4	814	c.460A>T	c.(460-462)Acc>Tcc	p.T154S	KCNJ15_ENST00000398932.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000398934.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000398938.2_Missense_Mutation_p.T154S|KCNJ15_ENST00000328656.3_Missense_Mutation_p.T154S			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	154					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													81	270					0	0	1	0	0	T	39671643	A	T	39671643	3	4	22	1	0	0	0	0	1	0	0	0	8093	275	10	5	462	5	KCNJ15	21	39671643	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	674093	39671643	8458252	19912	22058											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	402					0	0	1	0	0	A	40184962	G	A	40184962	2	1	22	1	0	0	0	0	0	0	0	1	5304	1364	48	2		2	ETS2	21	40184962	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	513319	40184962	7944933	19913	22059											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	697					0	0	1	0	0	A	40186851	G	A	40186851	3	1	22	1	0	0	0	0	1	0	0	0	5304	1203	42	2	465	2	ETS2	21	40186851	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1889	40186851	7943044	19914	22060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	143					0	0	1	0	0	T	40191548	C	T	40191548	2	4	22	1	0	0	0	0	0	0	0	1	5304	883	31	1		1	ETS2	21	40191548	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4697	40191548	7938347	19915	22061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	110					0	0	1	0	0	G	40191600	A	G	40191600	3	3	22	1	0	0	0	0	1	0	0	0	5304	217	8	3	1011	3	ETS2	21	40191600	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52	40191600	7938295	19916	22062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	270					0	0	1	0	0	T	40559106	C	T	40559106	3	4	22	1	0	0	0	0	1	0	0	0	1527	884	31	1	157	1	BRWD1	21	40559106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	367506	40559106	7570789	19917	22063											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380800.3_Missense_Mutation_p.N983T|BRWD1_ENST00000333229.2_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													36	139					0	0	1	0	0	G	40604155	T	G	40604155	3	3	22	1	0	0	0	0	1	0	0	0	1527	1493	52	3	4325	3	BRWD1	21	40604155	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	45049	40604155	7525740	19918	22064											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380800.3_Missense_Mutation_p.S404N|BRWD1_ENST00000333229.2_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													9	413					0	0	1	0	0	T	40646333	C	T	40646333	3	4	22	1	0	0	0	0	1	0	0	0	1527	797	28	2	6110	2	BRWD1	21	40646333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42178	40646333	7483562	19919	22065											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	229					0	0	1	0	0	A	41137582	G	A	41137582	3	1	22	1	0	0	0	0	1	0	0	0	7646	1029	36	2	231	2	IGSF5	21	41137582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	491249	41137582	6992313	19920	22066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001389.3	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													11	197					0	0	1	0	0	G	41384987	A	G	41384987	3	3	22	1	0	0	0	0	1	0	0	0	4794	362	13	3	29	3	DSCAM	21	41384987	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	247405	41384987	6744908	19921	22067											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001389.3	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													14	275					0	0	1	0	0	A	41385243	G	A	41385243	2	1	22	1	0	0	0	0	0	0	0	1	4794	1310	46	2		2	DSCAM	21	41385243	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	256	41385243	6744652	19922	22068											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001389.3	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													9	205					1.12685e-05	1.15515e-05	1	1	0	T	41452251	G	T	41452251	4	4	22	1	0	0	0	0	0	1	0	0	4794	1024	36	2	1826	2	DSCAM	21	41452251	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67008	41452251	6677644	19923	22069											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001389.3	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													36	293					0	0	1	0	0	A	41457658	G	A	41457658	3	1	22	1	0	0	0	0	1	0	0	0	4794	1086	38	1	2079	1	DSCAM	21	41457658	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5407	41457658	6672237	19924	22070											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001389.3	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													88	392					0	0	1	0	0	C	41710129	A	C	41710129	3	2	22	1	0	0	0	0	1	0	0	0	4794	72	3	3	4460	3	DSCAM	21	41710129	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	252471	41710129	6419766	19925	22071											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001389.3	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													79	244					0	0	1	0	0	A	41711061	G	A	41711061	4	1	22	1	0	0	0	0	0	1	0	0	4794	1066	37	1	4654	1	DSCAM	21	41711061	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	932	41711061	6418834	19926	22072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001389.3	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													50	231					0	0	1	0	0	T	41741044	C	T	41741044	3	4	22	1	0	0	0	0	1	0	0	0	4794	768	27	1	5521	1	DSCAM	21	41741044	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29983	41741044	6388851	19927	22073											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42647386C>T	ENST00000330333.6	+	9	1855	c.1392C>T	c.(1390-1392)agC>agT	p.S464S	BACE2_ENST00000328735.6_3'UTR|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.4_Silent_p.S414S	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	464					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													6	308					0	0	1	0	0	T	42647386	C	T	42647386	2	4	22	1	0	0	0	0	0	0	0	1	1280	767	27	1		1	BACE2	21	42647386	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	906342	42647386	5482509	19928	22074											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	378					1.86864e-30	2.19243e-30	1	1	0	A	42748845	C	A	42748845	2	1	22	1	0	0	0	0	0	0	0	1	10046	610	22	2		2	MX2	21	42748845	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101459	42748845	5381050	19929	22075											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000455164.2_Missense_Mutation_p.D624Y|MX1_ENST00000398598.3_Missense_Mutation_p.D624Y|MX1_ENST00000288383.6_Missense_Mutation_p.D601Y	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													129	518					4.22328e-53	5.25993e-53	1	1	0	T	42830566	G	T	42830566	3	4	22	1	0	0	0	0	1	0	0	0	10045	1174	41	2	1920	2	MX1	21	42830566	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81721	42830566	5299329	19930	22076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332512.3_Missense_Mutation_p.R659Q|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Missense_Mutation_p.R596Q			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													50	380					0	0	1	0	0	T	43161377	C	T	43161377	3	4	22	1	0	0	0	0	1	0	0	0	13435	652	23	1	382	1	RIPK4	21	43161377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	330811	43161377	4968518	19931	22077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332512.3_Nonsense_Mutation_p.R559*|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.R496*			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													73	215					0	0	1	0	0	A	43161678	G	A	43161678	4	1	22	1	0	0	0	0	0	1	0	0	13435	1124	39	1	683	1	RIPK4	21	43161678	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	301	43161678	4968217	19932	22078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332512.3_Silent_p.V486V|RIPK4_ENST00000544709.1_Silent_p.V423V			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													108	398					0	0	1	0	0	A	43161895	G	A	43161895	2	1	22	1	0	0	0	0	0	0	0	1	13435	1045	37	1		1	RIPK4	21	43161895	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217	43161895	4968000	19933	22079	149	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332512.3_Missense_Mutation_p.R484W|RIPK4_ENST00000544709.1_Missense_Mutation_p.R421W			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													41	477					0	0	1	0	0	A	43161903	G	A	43161903	3	1	22	1	0	0	0	0	1	0	0	0	13435	1086	38	1	908	1	RIPK4	21	43161903	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	43161903	4967992	19934	22080	149	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332512.3_Missense_Mutation_p.A186T|RIPK4_ENST00000544709.1_Missense_Mutation_p.A123T			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													57	277					0	0	1	0	0	T	43171324	C	T	43171324	3	4	22	1	0	0	0	0	1	0	0	0	13435	768	27	1	1822	1	RIPK4	21	43171324	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9421	43171324	4958571	19935	22081											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000269844.3_Missense_Mutation_p.C1142Y|PRDM15_ENST00000447207.2_Missense_Mutation_p.C776Y|PRDM15_ENST00000538201.1_Missense_Mutation_p.C796Y			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													42	360					0	0	1	0	0	T	43236126	C	T	43236126	3	4	22	1	0	0	0	0	1	0	0	0	12508	710	25	2	1122	2	PRDM15	21	43236126	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64802	43236126	4893769	19936	22082											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000269844.3_Missense_Mutation_p.A490V|PRDM15_ENST00000447207.2_Missense_Mutation_p.A124V|PRDM15_ENST00000538201.1_Missense_Mutation_p.A124V			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													7	314					0	0	1	0	0	A	43274842	G	A	43274842	3	1	22	1	0	0	0	0	1	0	0	0	12508	1087	38	1	3134	1	PRDM15	21	43274842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38716	43274842	4855053	19937	22083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	179					0	0	1	0	0	G	43319445	A	G	43319445	2	3	22	1	0	0	0	0	0	0	0	1	2166	175	7	3		3	C2CD2	21	43319445	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44603	43319445	4810450	19938	22084											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	290					0	0	1	0	0	T	43329596	C	T	43329596	2	4	22	1	0	0	0	0	0	0	0	1	2166	912	32	2		2	C2CD2	21	43329596	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10151	43329596	4800299	19939	22085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43504288C>T	ENST00000400427.1	+	3	594	c.198C>T	c.(196-198)gaC>gaT	p.D66D	UMODL1_ENST00000408910.2_Silent_p.D138D|UMODL1_ENST00000400424.1_Silent_p.D66D|UMODL1_ENST00000408989.2_Silent_p.D138D	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	138	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													29	695					0	0	1	0	0	T	43504288	C	T	43504288	2	4	22	1	0	0	0	0	0	0	0	1	17040	564	20	2		2	UMODL1	21	43504288	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174692	43504288	4625607	19940	22086											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43508515C>T	ENST00000400427.1	+	5	895	c.499C>T	c.(499-501)Cct>Tct	p.P167S	UMODL1_ENST00000408910.2_Missense_Mutation_p.P239S|UMODL1_ENST00000400424.1_Missense_Mutation_p.P167S|UMODL1_ENST00000408989.2_Missense_Mutation_p.P239S	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	239						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													40	137					0	0	1	0	0	T	43508515	C	T	43508515	3	4	22	1	0	0	0	0	1	0	0	0	17040	739	26	2	733	2	UMODL1	21	43508515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4227	43508515	4621380	19941	22087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43547924G>A	ENST00000400427.1	+	19	4237	c.3841G>A	c.(3841-3843)Gga>Aga	p.G1281R	UMODL1_ENST00000408910.2_Missense_Mutation_p.G1225R|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400424.1_Missense_Mutation_p.G1153R|UMODL1_ENST00000408989.2_Missense_Mutation_p.G1353R	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1225						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													20	327					0	0	1	0	0	A	43547924	G	A	43547924	3	1	22	1	0	0	0	0	1	0	0	0	17040	1117	39	1	4131	1	UMODL1	21	43547924	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39409	43547924	4581971	19942	22088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398449.3_Missense_Mutation_p.A322S|ABCG1_ENST00000343687.3_Missense_Mutation_p.A333S|ABCG1_ENST00000347800.2_Missense_Mutation_p.A319S|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Missense_Mutation_p.A324S|ABCG1_ENST00000361802.2_Missense_Mutation_p.A322S|ABCG1_ENST00000340588.4_Missense_Mutation_p.A430S			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													153	561					5.4523e-64	6.88634e-64	1	1	0	T	43706095	G	T	43706095	3	4	22	1	0	0	0	0	1	0	0	0	68	971	34	2	1162	2	ABCG1	21	43706095	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158171	43706095	4423800	19943	22089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398449.3_Missense_Mutation_p.D356G|ABCG1_ENST00000343687.3_Missense_Mutation_p.D367G|ABCG1_ENST00000347800.2_Missense_Mutation_p.D353G|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Missense_Mutation_p.D358G|ABCG1_ENST00000361802.2_Missense_Mutation_p.D356G|ABCG1_ENST00000340588.4_Missense_Mutation_p.D464G			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													105	936					0	0	1	0	0	G	43708092	A	G	43708092	3	3	22	1	0	0	0	0	1	0	0	0	68	275	10	3	1269	3	ABCG1	21	43708092	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1997	43708092	4421803	19944	22090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398449.3_Silent_p.F594F|ABCG1_ENST00000343687.3_Silent_p.F605F|ABCG1_ENST00000347800.2_Silent_p.F591F|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.F596F|ABCG1_ENST00000361802.2_Silent_p.F606F|ABCG1_ENST00000340588.4_Silent_p.F714F			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													57	203					0	0	1	0	0	T	43716283	C	T	43716283	2	4	22	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	19945	22091											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	157					0	0	1	0	0	T	43783485	C	T	43783485	2	4	22	1	0	0	0	0	0	0	0	1	15863	912	32	2		2	TFF1	21	43783485	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67202	43783485	4346410	19946	22092											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398405.1_Missense_Mutation_p.R370M|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.R457M|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.R372M	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													224	762					9.29173e-92	1.19331e-91	1	1	0	A	43796726	C	A	43796726	3	1	22	1	0	0	0	0	1	0	0	0	16308	681	24	2	258	2	TMPRSS3	21	43796726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13241	43796726	4333169	19947	22093											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398405.1_Missense_Mutation_p.E3K|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.E87K|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.E3K|TMPRSS3_ENST00000398397.3_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													13	158					0	0	1	0	0	T	43815520	C	T	43815520	3	4	22	1	0	0	0	0	1	0	0	0	16308	864	30	2	1488	2	TMPRSS3	21	43815520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18794	43815520	4314375	19948	22094											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	282					0	0	1	0	0	G	43846890	A	G	43846890	2	3	22	1	0	0	0	0	0	0	0	1	16900	146	6	3		3	UBASH3A	21	43846890	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31370	43846890	4283005	19949	22095											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398229.3_Intron|PDE9A_ENST00000398225.3_Missense_Mutation_p.K43N|PDE9A_ENST00000380328.2_Missense_Mutation_p.A110S|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000335512.4_Missense_Mutation_p.K84N|PDE9A_ENST00000328862.6_Missense_Mutation_p.K58N|PDE9A_ENST00000398236.3_Missense_Mutation_p.K58N|PDE9A_ENST00000398224.3_Missense_Mutation_p.K17N|PDE9A_ENST00000398234.3_Missense_Mutation_p.K43N|PDE9A_ENST00000335440.6_Missense_Mutation_p.A61S|PDE9A_ENST00000349112.3_Missense_Mutation_p.A35S|PDE9A_ENST00000398232.3_Missense_Mutation_p.K17N|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000470987.1_3'UTR	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													17	310					7.07596e-05	7.20791e-05	1	1	0	T	44119111	G	T	44119111	3	4	22	1	0	0	0	0	1	0	0	0	11702	971	34	2	346	2	PDE9A	21	44119111	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	272221	44119111	4010784	19950	22096											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	99					0	0	1	0	0	A	44272427	G	A	44272427	3	1	22	1	0	0	0	0	1	0	0	0	17353	1000	35	2	263	2	WDR4	21	44272427	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153316	44272427	3857468	19951	22097											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340344.3_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													44	175					0	0	1	0	0	G	44324264	A	G	44324264	3	3	22	1	0	0	0	0	1	0	0	0	10348	304	11	3	1152	3	NDUFV3	21	44324264	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51837	44324264	3805631	19952	22098											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	343					0	0	1	0	0	T	44433326	C	T	44433326	3	4	22	1	0	0	0	0	1	0	0	0	12030	652	23	1	514	1	PKNOX1	21	44433326	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109062	44433326	3696569	19953	22099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544202.1_Silent_p.G27G|CBS_ENST00000398158.1_Silent_p.G115G|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000398168.1_Silent_p.G115G|CBS_ENST00000359624.3_Silent_p.G115G|CBS_ENST00000352178.5_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													50	398					0	0	1	0	0	A	44486459	G	A	44486459	2	1	22	1	0	0	0	0	0	0	0	1	2729	1074	38	1		1	CBS	21	44486459	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53133	44486459	3643436	19954	22100											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	641					0	0	1	0	0	T	44589368	C	T	44589368	2	4	22	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	19955	22101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	220					1.32667e-27	1.53764e-27	1	1	0	A	44839359	C	A	44839359	5	1	22	1	0	0	0	0	0	0	1	0	14372	695	24	2	1252	2	SIK1	21	44839359	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249991	44839359	3290536	19956	22102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	313					0	0	1	0	0	T	45064180	C	T	45064180	3	4	22	1	0	0	0	0	1	0	0	0	7438	913	32	2	747	2	HSF2BP	21	45064180	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	224821	45064180	3065715	19957	22103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	389					0	0	1	0	0	T	45064210	C	T	45064210	3	4	22	1	0	0	0	0	1	0	0	0	7438	768	27	1	777	1	HSF2BP	21	45064210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30	45064210	3065685	19958	22104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398081.1_Intron|PDXK_ENST00000476313.1_Intron|PDXK_ENST00000291565.4_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													59	558					0	0	1	0	0	A	45152453	G	A	45152453	2	1	22	1	0	0	0	0	0	0	0	1	11744	986	34	2		2	PDXK	21	45152453	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88243	45152453	2977442	19959	22105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	186					0	0	1	0	0	T	45173522	C	T	45173522	2	4	22	1	0	0	0	0	0	0	0	1	11744	535	19	1		1	PDXK	21	45173522	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21069	45173522	2956373	19960	22106											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	395					0	0	1	0	0	A	45175635	G	A	45175635	2	1	22	1	0	0	0	0	0	0	0	1	11744	1020	36	2		2	PDXK	21	45175635	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2113	45175635	2954260	19961	22107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000327505.2_Missense_Mutation_p.Q10H|AGPAT3_ENST00000398058.1_Missense_Mutation_p.Q10H|AGPAT3_ENST00000398061.1_Missense_Mutation_p.Q10H|AGPAT3_ENST00000291572.8_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													123	411					3.8324e-49	4.73866e-49	1	1	0	T	45379592	G	T	45379592	3	4	22	1	0	0	0	0	1	0	0	0	385	1020	36	2	32	2	AGPAT3	21	45379592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203957	45379592	2750303	19962	22108											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479117.1_3'UTR|AGPAT3_ENST00000546158.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R353C|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000398061.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000291572.8_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													108	832					0	0	1	0	0	T	45402199	C	T	45402199	3	4	22	1	0	0	0	0	1	0	0	0	385	884	31	1	1087	1	AGPAT3	21	45402199	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22607	45402199	2727696	19963	22109											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	367					0	0	1	0	0	T	45483547	C	T	45483547	3	4	22	1	0	0	0	0	1	0	0	0	16518	768	27	1	945	1	TRAPPC10	21	45483547	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81348	45483547	2646348	19964	22110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	272					0	0	1	0	0	T	45507691	C	T	45507691	3	4	22	1	0	0	0	0	1	0	0	0	16518	913	32	2	2717	2	TRAPPC10	21	45507691	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24144	45507691	2622204	19965	22111											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													160	682					3.66178e-69	4.64609e-69	1	1	0	A	45522699	C	A	45522699	3	1	22	1	0	0	0	0	1	0	0	0	16518	796	28	2	3473	2	TRAPPC10	21	45522699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15008	45522699	2607196	19966	22112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	164					0	0	1	0	0	A	45533719	G	A	45533719	3	1	22	1	0	0	0	0	1	0	0	0	12896	1145	40	1	227	1	PWP2	21	45533719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11020	45533719	2596176	19967	22113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Missense_Mutation_p.D32N|ICOSLG_ENST00000344330.4_Missense_Mutation_p.D32N			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													41	338					0	0	1	0	0	T	45657062	C	T	45657062	3	4	22	1	0	0	0	0	1	0	0	0	7531	884	31	1	834	1	ICOSLG	21	45657062	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123343	45657062	2472833	19968	22114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	207					0	0	1	0	0	T	45666402	C	T	45666402	3	4	22	1	0	0	0	0	1	0	0	0	4705	739	26	2	125	2	DNMT3L	21	45666402	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9340	45666402	2463493	19969	22115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	125					2.17888e-05	2.22852e-05	1	1	0	T	45678505	G	T	45678505	3	4	22	1	0	0	0	0	1	0	0	0	4705	1020	36	2	774	2	DNMT3L	21	45678505	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12103	45678505	2451390	19970	22116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				9	45					0	0	1	0	0	A	45713016	G	A	45713016	3	1	22	1	0	0	0	0	1	0	0	0	434	1103	39	1	1562	1	AIRE	21	45713016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34511	45713016	2416879	19971	22117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45713671G>T	ENST00000291582.5	+	11	1405		c.e11-1		AIRE_ENST00000355347.4_Splice_Site|AIRE_ENST00000329347.4_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				29	234					1.99505e-19	2.22584e-19	1	1	0	T	45713671	G	T	45713671	5	4	22	1	0	0	0	0	0	0	1	0	434	956	33	2	1608	2	AIRE	21	45713671	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	655	45713671	2416224	19972	22118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	252					0	0	1	0	0	T	45744399	C	T	45744399	3	4	22	1	0	0	0	0	1	0	0	0	11812	739	26	2	1742	2	PFKL	21	45744399	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30728	45744399	2385496	19973	22119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.T238A|TRPM2_ENST00000397932.2_Missense_Mutation_p.T238A|TRPM2_ENST00000300482.5_Missense_Mutation_p.T238A	NM_003307.3	NP_003298.1	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													28	199					0	0	1	0	0	G	45789167	A	G	45789167	3	3	22	1	0	0	0	0	1	0	0	0	16647	159	6	3	730	3	TRPM2	21	45789167	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44768	45789167	2340728	19974	22120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1057H|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1077H|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1077H	NM_003307.3	NP_003298.1	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													96	362					0	0	1	0	0	A	45837893	G	A	45837893	3	1	22	1	0	0	0	0	1	0	0	0	16647	1087	38	1	3312	1	TRPM2	21	45837893	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48726	45837893	2292002	19975	22121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	336					0	0	1	0	0	A	45959281	G	A	45959281	2	1	22	1	0	0	0	0	0	0	0	1	8548	963	34	2		2	KRTAP10-1	21	45959281	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121388	45959281	2170614	19976	22122											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	215					1.77063e-15	1.9355e-15	1	1	0	T	45977936	G	T	45977936	4	4	22	1	0	0	0	0	0	1	0	0	8553	963	34	2	6	2	KRTAP10-3	21	45977936	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18655	45977936	2151959	19977	22123											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													72	282					0	0	1	0	0	A	45993726	G	A	45993726	3	1	22	1	0	0	0	0	1	0	0	0	8554	1058	37	1	93	1	KRTAP10-4	21	45993726	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15790	45993726	2136169	19978	22124											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	441					1.07234e-20	1.20343e-20	1	1	0	A	46032698	C	A	46032698	2	1	22	1	0	0	0	0	0	0	0	1	8558	668	24	2		2	KRTAP10-8	21	46032698	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38972	46032698	2097197	19979	22125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	300					0	0	1	0	0	T	46086509	A	T	46086509	3	4	22	1	0	0	0	0	1	0	0	0	8562	304	11	5	149	5	KRTAP12-2	21	46086509	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	53811	46086509	2043386	19980	22126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	829					8.74965e-44	1.06917e-43	1	1	0	A	46117425	C	A	46117425	2	1	22	1	0	0	0	0	0	0	0	1	8551	668	24	2		2	KRTAP10-12	21	46117425	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30916	46117425	2012470	19981	22127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	762					0	0	1	0	0	A	46117739	G	A	46117739	3	1	22	1	0	0	0	0	1	0	0	0	8551	1087	38	1	625	1	KRTAP10-12	21	46117739	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	314	46117739	2012156	19982	22128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46320235G>A	ENST00000397850.2	-	8	1349	c.897_splice	c.e8+1	p.F299_splice	ITGB2_ENST00000397852.1_Splice_Site_p.F299_splice|ITGB2_ENST00000397857.1_Splice_Site_p.F299_splice|ITGB2_ENST00000355153.4_Splice_Site_p.F299_splice|ITGB2_ENST00000302347.5_Splice_Site_p.F299_splice|ITGB2_ENST00000397854.3_Splice_Site_p.F242_splice			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													31	276					0	0	1	0	0	A	46320235	G	A	46320235	5	1	22	1	0	0	0	0	0	0	1	0	7938	1072	37	1	1452	1	ITGB2	21	46320235	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	202496	46320235	1809660	19983	22129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397852.1_Silent_p.G276G|ITGB2_ENST00000397857.1_Silent_p.G276G|ITGB2_ENST00000355153.4_Silent_p.G276G|ITGB2_ENST00000302347.5_Silent_p.G276G|ITGB2_ENST00000397854.3_Silent_p.G219G			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													9	355					0	0	1	0	0	A	46320304	G	A	46320304	2	1	22	1	0	0	0	0	0	0	0	1	7938	1074	38	1		1	ITGB2	21	46320304	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69	46320304	1809591	19984	22130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360697.3_Missense_Mutation_p.L352M|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000348831.4_Missense_Mutation_p.L352M|ADARB1_ENST00000389863.4_Missense_Mutation_p.L352M	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													7	102					0.0381472	0.0382505	1	1	0	A	46600335	C	A	46600335	3	1	22	1	0	0	0	0	1	0	0	0	281	796	28	2	1064	2	ADARB1	21	46600335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	280031	46600335	1529560	19985	22131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													197	749					0	0	1	0	0	A	46703411	G	A	46703411	2	1	22	1	0	0	0	0	0	0	0	1	12232	1140	40	1		1	POFUT2	21	46703411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103076	46703411	1426484	19986	22132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355480.5_Missense_Mutation_p.R406H|COL18A1_ENST00000400337.2_Missense_Mutation_p.R226H			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													16	50					0	0	1	0	0	A	46893834	G	A	46893834	3	1	22	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	19987	22133											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355480.5_Missense_Mutation_p.G816S|COL18A1_ENST00000400337.2_Missense_Mutation_p.G636S			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													46	455					0	0	1	0	0	A	46908341	G	A	46908341	3	1	22	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	19988	22134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355480.5_Missense_Mutation_p.G887R|COL18A1_ENST00000400337.2_Missense_Mutation_p.G707R			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													30	142					0	0	1	0	0	A	46911190	G	A	46911190	3	1	22	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	19989	22135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000567670.1_Missense_Mutation_p.A347V|SLC19A1_ENST00000380010.4_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													20	61					0	0	1	0	0	A	46950795	G	A	46950795	3	1	22	1	0	0	0	0	1	0	0	0	14483	1087	38	1	747	1	SLC19A1	21	46950795	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39605	46950795	1179100	19990	22136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400310.1_Missense_Mutation_p.T131M|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400304.1_Missense_Mutation_p.T99M|PCBP3_ENST00000400309.1_Missense_Mutation_p.T131M|PCBP3_ENST00000400308.1_Missense_Mutation_p.T131M|PCBP3_ENST00000449640.1_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													103	326					0	0	1	0	0	T	47329321	C	T	47329321	3	4	22	1	0	0	0	0	1	0	0	0	11549	536	19	1	414	1	PCBP3	21	47329321	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	378526	47329321	800574	19991	22137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400310.1_Silent_p.C190C|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400304.1_Silent_p.C158C|PCBP3_ENST00000400309.1_Silent_p.C190C|PCBP3_ENST00000400308.1_Silent_p.C190C|PCBP3_ENST00000449640.1_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													65	261					0	0	1	0	0	T	47330914	C	T	47330914	2	4	22	1	0	0	0	0	0	0	0	1	11549	776	27	1		1	PCBP3	21	47330914	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1593	47330914	798981	19992	22138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400310.1_Silent_p.I229I|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400304.1_Silent_p.I220I|PCBP3_ENST00000400309.1_Silent_p.I229I|PCBP3_ENST00000400308.1_Silent_p.I204I|PCBP3_ENST00000449640.1_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													98	370					0	0	1	0	0	T	47337513	C	T	47337513	2	4	22	1	0	0	0	0	0	0	0	1	11549	845	30	2		2	PCBP3	21	47337513	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6599	47337513	792382	19993	22139											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	201					0	0	1	0	0	C	47410314	T	C	47410314	3	2	22	1	0	0	0	0	1	0	0	0	3722	1435	50	3	1030	3	COL6A1	21	47410314	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	72801	47410314	719581	19994	22140											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	153					0	0	1	0	0	T	47423624	C	T	47423624	2	4	22	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	19995	22141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397763.1_Silent_p.T166T|COL6A2_ENST00000357838.4_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													33	124					0	0	1	0	0	T	47532275	C	T	47532275	2	4	22	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	19996	22142											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397763.1_Nonsense_Mutation_p.G379*|COL6A2_ENST00000357838.4_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													29	117					3.11337e-16	3.41587e-16	1	1	0	T	47538546	G	T	47538546	4	4	22	1	0	0	0	0	0	1	0	0	3723	1001	35	2	1181	2	COL6A2	21	47538546	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6271	47538546	591349	19997	22143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397763.1_Silent_p.I775I|COL6A2_ENST00000357838.4_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													160	1410					0	0	1	0	0	T	47546054	C	T	47546054	2	4	22	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	19998	22144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	68					0	0	1	0	0	A	47552176	G	A	47552176	3	1	22	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	19999	22145											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	153					0	0	1	0	0	A	47552344	G	A	47552344	3	1	22	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	20000	22146											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397746.3_Missense_Mutation_p.D534V|FTCD_ENST00000397743.1_3'UTR|FTCD_ENST00000355384.2_3'UTR|FTCD_ENST00000397748.1_Silent_p.G527G|FTCD_ENST00000359679.2_Silent_p.G527G|FTCD_ENST00000498355.2_5'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													40	141					0	0	1	0	0	A	47556926	T	A	47556926	3	1	22	1	0	0	0	0	1	0	0	0	6116	1667	58	5	28	5	FTCD	21	47556926	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4582	47556926	572969	20001	22147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397746.3_Missense_Mutation_p.D161N|FTCD_ENST00000397743.1_Missense_Mutation_p.D161N|FTCD_ENST00000291670.5_Missense_Mutation_p.D161N|FTCD_ENST00000355384.2_Missense_Mutation_p.D161N|FTCD_ENST00000359679.2_Missense_Mutation_p.D161N|FTCD_ENST00000498355.2_5'UTR|FTCD-AS1_ENST00000446649.1_RNA			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													56	249					0	0	1	0	0	T	47571627	C	T	47571627	3	4	22	1	0	0	0	0	1	0	0	0	6116	884	31	1	1184	1	FTCD	21	47571627	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14701	47571627	558268	20002	22148											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000522411.1_Missense_Mutation_p.L186M|LSS_ENST00000457828.2_Missense_Mutation_p.L117M|LSS_ENST00000464357.1_5'UTR|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													19	181					5.03518e-11	5.3609e-11	1	1	0	T	47639448	G	T	47639448	3	4	22	1	0	0	0	0	1	0	0	0	9110	962	34	2	1677	2	LSS	21	47639448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67821	47639448	490447	20003	22149											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Missense_Mutation_p.S1632F|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_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													18	163					0	0	1	0	0	A	47664864	G	A	47664864	3	1	22	1	0	0	0	0	1	0	0	0	9438	1174	41	2	1071	2	MCM3AP	21	47664864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25416	47664864	465031	20004	22150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1403D|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_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													25	126					1.77063e-15	1.9355e-15	1	1	0	T	47671525	G	T	47671525	3	4	22	1	0	0	0	0	1	0	0	0	9438	971	34	2	1770	2	MCM3AP	21	47671525	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6661	47671525	458370	20005	22151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	162					0	0	1	0	0	T	47685237	C	T	47685237	3	4	22	1	0	0	0	0	1	0	0	0	9438	893	31	1	2778	1	MCM3AP	21	47685237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13712	47685237	444658	20006	22152											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	120					0	0	1	0	0	A	47686901	G	A	47686901	2	1	22	1	0	0	0	0	0	0	0	1	9438	1103	39	1		1	MCM3AP	21	47686901	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1664	47686901	442994	20007	22153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	412					0	0	1	0	0	A	47690332	G	A	47690332	3	1	22	1	0	0	0	0	1	0	0	0	9438	1377	48	2	3411	2	MCM3AP	21	47690332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3431	47690332	439563	20008	22154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	265					0	0	1	0	0	T	47692708	C	T	47692708	2	4	22	1	0	0	0	0	0	0	0	1	9438	639	23	1		1	MCM3AP	21	47692708	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2376	47692708	437187	20009	22155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	492					0	0	1	0	0	A	47697518	G	A	47697518	3	1	22	1	0	0	0	0	1	0	0	0	9438	1261	44	2	4257	2	MCM3AP	21	47697518	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4810	47697518	432377	20010	22156											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	353					0	0	1	0	0	T	47754626	C	T	47754626	3	4	22	1	0	0	0	0	1	0	0	0	11637	768	27	1	593	1	PCNT	21	47754626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57108	47754626	375269	20011	22157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	53					0	0	1	0	0	T	47766794	C	T	47766794	2	4	22	1	0	0	0	0	0	0	0	1	11637	738	26	2		2	PCNT	21	47766794	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12168	47766794	363101	20012	22158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	577					0	0	1	0	0	T	47769052	C	T	47769052	4	4	22	1	0	0	0	0	0	1	0	0	11637	479	17	2	1185	2	PCNT	21	47769052	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2258	47769052	360843	20013	22159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	281					7.41877e-09	7.77385e-09	1	1	0	A	47769729	C	A	47769729	3	1	22	1	0	0	0	0	1	0	0	0	11637	796	28	2	1369	2	PCNT	21	47769729	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	677	47769729	360166	20014	22160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	570					0	0	1	0	0	T	47786808	C	T	47786808	2	4	22	1	0	0	0	0	0	0	0	1	11637	668	24	2		2	PCNT	21	47786808	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17079	47786808	343087	20015	22161											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	41					0	0	1	0	0	T	47817955	C	T	47817955	3	4	22	1	0	0	0	0	1	0	0	0	11637	768	27	1	4564	1	PCNT	21	47817955	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31147	47817955	311940	20016	22162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	167					2.27781e-18	2.52731e-18	1	1	0	A	47831953	C	A	47831953	3	1	22	1	0	0	0	0	1	0	0	0	11637	797	28	2	6076	2	PCNT	21	47831953	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13998	47831953	297942	20017	22163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	132					0	0	1	0	0	A	47851714	G	A	47851714	3	1	22	1	0	0	0	0	1	0	0	0	11637	1319	46	2	8486	2	PCNT	21	47851714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19761	47851714	278181	20018	22164											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	139					0	0	1	0	0	T	47851775	C	T	47851775	2	4	22	1	0	0	0	0	0	0	0	1	11637	610	22	2		2	PCNT	21	47851775	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61	47851775	278120	20019	22165											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	201					0	0	1	0	0	T	47851912	C	T	47851912	3	4	22	1	0	0	0	0	1	0	0	0	11637	893	31	1	8684	1	PCNT	21	47851912	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137	47851912	277983	20020	22166											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	509					0	0	1	0	0	T	47860063	C	T	47860063	3	4	22	1	0	0	0	0	1	0	0	0	11637	623	22	2	9507	2	PCNT	21	47860063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8151	47860063	269832	20021	22167											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000435722.3_Missense_Mutation_p.G150R|DIP2A_ENST00000400274.1_Missense_Mutation_p.G150R|DIP2A_ENST00000427143.2_Missense_Mutation_p.G86R|DIP2A_ENST00000417564.2_Missense_Mutation_p.G150R|DIP2A_ENST00000466639.1_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													14	850					0	0	1	0	0	A	47918539	G	A	47918539	3	1	22	1	0	0	0	0	1	0	0	0	4555	1116	39	1	466	1	DIP2A	21	47918539	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58476	47918539	211356	20022	22168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000435722.3_Silent_p.S315S|DIP2A_ENST00000400274.1_Silent_p.S311S|DIP2A_ENST00000427143.2_Silent_p.S251S|DIP2A_ENST00000417564.2_Silent_p.S315S|DIP2A_ENST00000466639.1_Silent_p.S272S	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													12	84					0	0	1	0	0	T	47931370	C	T	47931370	2	4	22	1	0	0	0	0	0	0	0	1	4555	767	27	1		1	DIP2A	21	47931370	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12831	47931370	198525	20023	22169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000435722.3_Missense_Mutation_p.A361V|DIP2A_ENST00000400274.1_Missense_Mutation_p.A357V|DIP2A_ENST00000427143.2_Missense_Mutation_p.A297V|DIP2A_ENST00000417564.2_Missense_Mutation_p.A361V|DIP2A_ENST00000466639.1_Missense_Mutation_p.A318V	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													11	108					0	0	1	0	0	T	47931507	C	T	47931507	3	4	22	1	0	0	0	0	1	0	0	0	4555	739	26	2	1112	2	DIP2A	21	47931507	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137	47931507	198388	20024	22170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000435722.3_Missense_Mutation_p.L801M|DIP2A_ENST00000400274.1_Missense_Mutation_p.L797M|DIP2A_ENST00000427143.2_Missense_Mutation_p.L737M|DIP2A_ENST00000417564.2_Missense_Mutation_p.L801M|DIP2A_ENST00000466639.1_Missense_Mutation_p.L758M	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													24	102					2.41591e-17	2.66597e-17	1	1	0	A	47966834	C	A	47966834	3	1	22	1	0	0	0	0	1	0	0	0	4555	680	24	2	2528	2	DIP2A	21	47966834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35327	47966834	163061	20025	22171											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													240	1009					2.83873e-70	3.60561e-70	1	1	0	T	16287519	G	T	16287519	3	4	22	1	0	0	0	0	1	0	0	0	12314	1348	47	2	1310	2	POTEH	22	16287519	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08		16287519	35017047	20026	22172											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	235					1.11015e-26	1.28132e-26	1	1	0	A	17073413	C	A	17073413	4	1	22	1	0	0	0	0	0	1	0	0	2983	864	30	2	1649	2	CCT8L2	22	17073413	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	785894	17073413	34231153	20027	22173											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	187					2.98393e-07	3.0958e-07	1	1	0	A	17265006	C	A	17265006	4	1	22	1	0	0	0	0	0	1	0	0	17492	922	32	2	500	2	XKR3	22	17265006	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191593	17265006	34039560	20028	22174											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	589					0	0	1	0	0	T	17280674	C	T	17280674	4	4	22	1	0	0	0	0	0	1	0	0	17492	740	26	2	811	2	XKR3	22	17280674	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15668	17280674	34023892	20029	22175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	298					0	0	1	0	0	G	17288713	A	G	17288713	3	3	22	1	0	0	0	0	1	0	0	0	17492	333	12	3	1140	3	XKR3	22	17288713	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8039	17288713	34015853	20030	22176											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	324					0	0	1	0	0	A	17447087	G	A	17447087	2	1	22	1	0	0	0	0	0	0	0	1	6186	958	34	2		2	GAB4	22	17447087	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158374	17447087	33857479	20031	22177											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													216	985					0	0	1	0	0	T	17472966	C	T	17472966	3	4	22	1	0	0	0	0	1	0	0	0	6186	768	27	1	1485	1	GAB4	22	17472966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25879	17472966	33831600	20032	22178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	103					0	0	1	0	0	T	17488858	C	T	17488858	2	4	22	1	0	0	0	0	0	0	0	1	6186	755	27	1		1	GAB4	22	17488858	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15892	17488858	33815708	20033	22179											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	166					0	0	1	0	0	C	17586821	T	C	17586821	3	2	22	1	0	0	0	0	1	0	0	0	7683	1667	58	3	1064	3	IL17RA	22	17586821	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	97963	17586821	33717745	20034	22180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	95					0	0	1	0	0	T	17590366	C	T	17590366	3	4	22	1	0	0	0	0	1	0	0	0	7683	797	28	2	2307	2	IL17RA	22	17590366	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3545	17590366	33714200	20035	22181											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	314					0	0	1	0	0	T	17601069	C	T	17601069	3	4	22	1	0	0	0	0	1	0	0	0	3230	739	26	2	791	2	CECR6	22	17601069	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10703	17601069	33703497	20036	22182											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399852.3_Missense_Mutation_p.Y120H|CECR5_ENST00000155674.5_Missense_Mutation_p.Y290H	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													52	264					0	0	1	0	0	G	17619225	A	G	17619225	3	3	22	1	0	0	0	0	1	0	0	0	3229	449	16	3	317	3	CECR5	22	17619225	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18156	17619225	33685341	20037	22183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330232.4_Missense_Mutation_p.S148N|CECR1_ENST00000449907.2_Missense_Mutation_p.S347N			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													112	351					0	0	1	0	0	T	17663567	C	T	17663567	3	4	22	1	0	0	0	0	1	0	0	0	3227	797	28	2	381	2	CECR1	22	17663567	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44342	17663567	33640999	20038	22184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18003201C>T	ENST00000262608.8	+	8	889	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C	CECR2_ENST00000400573.4_Missense_Mutation_p.R316C|CECR2_ENST00000400585.2_Missense_Mutation_p.R175C|CECR2_ENST00000342247.5_Missense_Mutation_p.R268C	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	338					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													12	48					0	0	1	0	0	T	18003201	C	T	18003201	3	4	22	1	0	0	0	0	1	0	0	0	3228	768	27	1	918	1	CECR2	22	18003201	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	339634	18003201	33301365	20039	22185											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18021876C>A	ENST00000262608.8	+	15	1981	c.1981C>A	c.(1981-1983)Ccc>Acc	p.P661T	CECR2_ENST00000400573.4_Missense_Mutation_p.P660T|CECR2_ENST00000400585.2_Missense_Mutation_p.P519T	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	702					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													12	76					7.03913e-09	7.37812e-09	1	1	0	A	18021876	C	A	18021876	3	1	22	1	0	0	0	0	1	0	0	0	3228	507	18	2	2038	2	CECR2	22	18021876	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18675	18021876	33282690	20040	22186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022006C>T	ENST00000262608.8	+	15	2111	c.2111C>T	c.(2110-2112)gCt>gTt	p.A704V	CECR2_ENST00000400573.4_Missense_Mutation_p.A703V|CECR2_ENST00000400585.2_Missense_Mutation_p.A562V	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	745					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													22	98					0	0	1	0	0	T	18022006	C	T	18022006	3	4	22	1	0	0	0	0	1	0	0	0	3228	797	28	2	2168	2	CECR2	22	18022006	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130	18022006	33282560	20041	22187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022140C>T	ENST00000262608.8	+	15	2245	c.2245C>T	c.(2245-2247)Cac>Tac	p.H749Y	CECR2_ENST00000400573.4_Missense_Mutation_p.H748Y|CECR2_ENST00000400585.2_Missense_Mutation_p.H607Y	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	790					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													45	189					0	0	1	0	0	T	18022140	C	T	18022140	3	4	22	1	0	0	0	0	1	0	0	0	3228	478	17	2	2302	2	CECR2	22	18022140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134	18022140	33282426	20042	22188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022171C>A	ENST00000262608.8	+	15	2276	c.2276C>A	c.(2275-2277)gCt>gAt	p.A759D	CECR2_ENST00000400573.4_Missense_Mutation_p.A758D|CECR2_ENST00000400585.2_Missense_Mutation_p.A617D	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	800					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													32	209					2.61193e-14	2.83483e-14	1	1	0	A	18022171	C	A	18022171	3	1	22	1	0	0	0	0	1	0	0	0	3228	797	28	2	2333	2	CECR2	22	18022171	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	18022171	33282395	20043	22189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022369C>A	ENST00000262608.8	+	15	2474	c.2474C>A	c.(2473-2475)tCt>tAt	p.S825Y	CECR2_ENST00000400573.4_Missense_Mutation_p.S824Y|CECR2_ENST00000400585.2_Missense_Mutation_p.S683Y	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	866					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													16	369					1.15088e-07	1.19614e-07	1	1	0	A	18022369	C	A	18022369	3	1	22	1	0	0	0	0	1	0	0	0	3228	913	32	2	2531	2	CECR2	22	18022369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198	18022369	33282197	20044	22190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18028909C>T	ENST00000262608.8	+	16	3869	c.3869C>T	c.(3868-3870)tCg>tTg	p.S1290L	CECR2_ENST00000400573.4_Missense_Mutation_p.S1289L|CECR2_ENST00000400585.2_Missense_Mutation_p.S1147L	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1331					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													105	428					0	0	1	0	0	T	18028909	C	T	18028909	3	4	22	1	0	0	0	0	1	0	0	0	3228	893	31	1	3930	1	CECR2	22	18028909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6540	18028909	33275657	20045	22191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18031740G>A	ENST00000262608.8	+	17	4239	c.4239G>A	c.(4237-4239)tcG>tcA	p.S1413S	CECR2_ENST00000400573.4_Silent_p.S1412S|CECR2_ENST00000400585.2_Silent_p.S1270S	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1454					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													57	318					0	0	1	0	0	A	18031740	G	A	18031740	2	1	22	1	0	0	0	0	0	0	0	1	3228	1074	38	1		1	CECR2	22	18031740	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2831	18031740	33272826	20046	22192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000493680.1_Missense_Mutation_p.F83V|BCL2L13_ENST00000317582.5_Missense_Mutation_p.F83V|BCL2L13_ENST00000399782.1_Missense_Mutation_p.F83V|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000543133.1_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													104	419					0	0	1	0	0	G	18171769	T	G	18171769	3	3	22	1	0	0	0	0	1	0	0	0	1369	1609	56	3	257	3	BCL2L13	22	18171769	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	140029	18171769	33132797	20047	22193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	85					0	0	1	0	0	A	18273538	G	A	18273538	3	1	22	1	0	0	0	0	1	0	0	0	9619	971	34	2	43	2	MICAL3	22	18273538	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101769	18273538	33031028	20048	22194											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	330					7.47877e-49	9.23912e-49	1	1	0	T	18301163	G	T	18301163	3	4	22	1	0	0	0	0	1	0	0	0	9619	962	34	2	1772	2	MICAL3	22	18301163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27625	18301163	33003403	20049	22195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000441493.2_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000585038.1_Missense_Mutation_p.G1054V|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000414725.2_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													8	90					0.000157383	0.000159814	1	1	0	A	18347481	C	A	18347481	3	1	22	1	0	0	0	0	1	0	0	0	9619	739	26	2	3624	2	MICAL3	22	18347481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46318	18347481	32957085	20050	22196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400561.2_Missense_Mutation_p.Q163R|MICAL3_ENST00000444520.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000207726.7_Missense_Mutation_p.Q163R|MICAL3_ENST00000429452.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000585038.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000383094.3_Missense_Mutation_p.Q163R|MICAL3_ENST00000414725.2_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													7	45					0	0	1	0	0	C	18385498	T	C	18385498	3	2	22	1	0	0	0	0	1	0	0	0	9619	1812	63	3	6373	3	MICAL3	22	18385498	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38017	18385498	32919068	20051	22197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400561.2_Missense_Mutation_p.D155N|MICAL3_ENST00000444520.1_Missense_Mutation_p.D155N|MICAL3_ENST00000207726.7_Missense_Mutation_p.D155N|MICAL3_ENST00000429452.1_Missense_Mutation_p.D155N|MICAL3_ENST00000585038.1_Missense_Mutation_p.D155N|MICAL3_ENST00000383094.3_Missense_Mutation_p.D155N|MICAL3_ENST00000414725.2_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													129	606					0	0	1	0	0	T	18387407	C	T	18387407	3	4	22	1	0	0	0	0	1	0	0	0	9619	884	31	1	6402	1	MICAL3	22	18387407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1909	18387407	32917159	20052	22198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	234					0	0	1	0	0	C	18604408	A	C	18604408	3	2	22	1	0	0	0	0	1	0	0	0	16812	275	10	3	172	3	TUBA8	22	18604408	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	217001	18604408	32700158	20053	22199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	695					0	0	1	0	0	A	18609176	G	A	18609176	3	1	22	1	0	0	0	0	1	0	0	0	16812	1203	42	2	445	2	TUBA8	22	18609176	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4768	18609176	32695390	20054	22200											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													112	453					0	0	1	0	0	A	18609586	G	A	18609586	3	1	22	1	0	0	0	0	1	0	0	0	16812	971	34	2	855	2	TUBA8	22	18609586	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	410	18609586	32694980	20055	22201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18898402C>T	ENST00000331444.6	+	4	526	c.372_splice	c.e4-1	p.A125_splice	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													35	163					0	0	1	0	0	T	18898402	C	T	18898402	5	4	22	1	0	0	0	0	0	0	1	0	4490	782	27	1	388	1	DGCR6	22	18898402	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	288816	18898402	32406164	20056	22202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	200					0	0	1	0	0	T	18898435	C	T	18898435	3	4	22	1	0	0	0	0	1	0	0	0	4490	768	27	1	421	1	DGCR6	22	18898435	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	18898435	32406131	20057	22203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420436.1_Missense_Mutation_p.K126N|PRODH_ENST00000334029.2_Missense_Mutation_p.K126N	NM_016335.4	NP_057419.4	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													105	473					2.13536e-36	2.55586e-36	1	1	0	A	18910658	C	A	18910658	3	1	22	1	0	0	0	0	1	0	0	0	12600	796	28	2	1140	2	PRODH	22	18910658	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12223	18910658	32393908	20058	22204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	295					0	0	1	0	0	A	19028666	G	A	19028666	3	1	22	1	0	0	0	0	1	0	0	0	4489	1145	40	1	359	1	DGCR2	22	19028666	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118008	19028666	32275900	20059	22205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	233					0	0	1	0	0	T	19076975	C	T	19076975	2	4	22	1	0	0	0	0	0	0	0	1	4489	523	19	1		1	DGCR2	22	19076975	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48309	19076975	32227591	20060	22206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	642					0	0	1	0	0	A	19119450	G	A	19119450	3	1	22	1	0	0	0	0	1	0	0	0	16730	971	34	2	540	2	TSSK2	22	19119450	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42475	19119450	32185116	20061	22207	150	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													126	572					0	0	1	0	0	A	19119459	G	A	19119459	3	1	22	1	0	0	0	0	1	0	0	0	16730	971	34	2	549	2	TSSK2	22	19119459	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9	19119459	32185107	20062	22208	150	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	506					0	0	1	0	0	T	19163678	C	T	19163678	3	4	22	1	0	0	0	0	1	0	0	0	14526	507	18	2	38	2	SLC25A1	22	19163678	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44219	19163678	32140888	20063	22209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000353891.5_Missense_Mutation_p.A247T|CLTCL1_ENST00000427926.1_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								165	765					0	0	1	0	0	T	19226854	C	T	19226854	3	4	22	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	20064	22210											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MRPL40_ENST00000471259.1_3'UTR|HIRA_ENST00000541063.1_Intron|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													16	425					0	0	1	0	0	C	19422398	A	C	19422398	3	2	22	1	0	0	0	0	1	0	0	0	9853	15	1	3	287	3	MRPL40	22	19422398	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	195544	19422398	31882168	20065	22211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19459280G>A	ENST00000263202.9	-	4	350	c.221C>T	c.(220-222)tCg>tTg	p.S74L	UFD1L_ENST00000399523.1_Missense_Mutation_p.S74L|UFD1L_ENST00000360834.4_Missense_Mutation_p.S63L|UFD1L_ENST00000484101.1_5'UTR	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	74					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													77	265					0	0	1	0	0	A	19459280	G	A	19459280	3	1	22	1	0	0	0	0	1	0	0	0	16995	1059	37	1	738	1	UFD1L	22	19459280	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36882	19459280	31845286	20066	22212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000455784.2_Silent_p.F112F|SEPT5_ENST00000383045.3_Silent_p.F121F	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													31	169					0	0	1	0	0	T	19707735	C	T	19707735	2	4	22	1	0	0	0	0	0	0	0	1	14121	883	31	1		1	SEPT5	22	19707735	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248455	19707735	31596831	20067	22213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000455784.2_Missense_Mutation_p.R168W|SEPT5_ENST00000383045.3_Missense_Mutation_p.R177W	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													70	250					0	0	1	0	0	T	19708076	C	T	19708076	3	4	22	1	0	0	0	0	1	0	0	0	14121	759	27	1	528	1	SEPT5	22	19708076	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	341	19708076	31596490	20068	22214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000455784.2_Missense_Mutation_p.V246I|SEPT5_ENST00000383045.3_Missense_Mutation_p.V255I	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													22	399					0	0	1	0	0	A	19709181	G	A	19709181	3	1	22	1	0	0	0	0	1	0	0	0	14121	1145	40	1	770	1	SEPT5	22	19709181	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1105	19709181	31595385	20069	22215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000455784.2_Missense_Mutation_p.R284C|SEPT5_ENST00000383045.3_Missense_Mutation_p.R293C	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													79	283					0	0	1	0	0	T	19709380	C	T	19709380	3	4	22	1	0	0	0	0	1	0	0	0	14121	768	27	1	888	1	SEPT5	22	19709380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199	19709380	31595186	20070	22216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	583					0	0	1	0	0	A	19770458	G	A	19770458	2	1	22	1	0	0	0	0	0	0	0	1	15710	1190	42	2		2	TBX1	22	19770458	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61078	19770458	31534108	20071	22217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.L303M|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.L303M|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000403325.1_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													51	216					3.10996e-30	3.64561e-30	1	1	0	T	19838878	G	T	19838878	3	4	22	1	0	0	0	0	1	0	0	0	2155	1020	36	2	191	2	C22orf29	22	19838878	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68420	19838878	31465688	20072	22218											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000328554.4_Nonsense_Mutation_p.W112*|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Nonsense_Mutation_p.W112*|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000403325.1_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													94	452					0	0	1	0	0	T	19839449	C	T	19839449	4	4	22	1	0	0	0	0	0	1	0	0	2155	740	26	2	762	2	C22orf29	22	19839449	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	571	19839449	31465117	20073	22219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19868151G>A	ENST00000400519.1	-	13	1172	c.1173C>T	c.(1171-1173)taC>taT	p.Y391Y	TXNRD2_ENST00000400518.1_Silent_p.Y362Y|TXNRD2_ENST00000542719.1_Silent_p.Y362Y|TXNRD2_ENST00000400521.1_Silent_p.Y392Y|TXNRD2_ENST00000400525.1_Silent_p.Y369Y|TXNRD2_ENST00000535882.1_Silent_p.Y391Y			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													59	213					0	0	1	0	0	A	19868151	G	A	19868151	2	1	22	1	0	0	0	0	0	0	0	1	16870	1140	40	1		1	TXNRD2	22	19868151	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28702	19868151	31436415	20074	22220											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19870891G>A	ENST00000400519.1	-	12	1039	c.1040C>T	c.(1039-1041)gCc>gTc	p.A347V	TXNRD2_ENST00000400518.1_Missense_Mutation_p.A318V|TXNRD2_ENST00000542719.1_Missense_Mutation_p.A318V|TXNRD2_ENST00000400521.1_Missense_Mutation_p.A348V|TXNRD2_ENST00000400525.1_Missense_Mutation_p.A325V|TXNRD2_ENST00000535882.1_Missense_Mutation_p.A347V			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													134	488					0	0	1	0	0	A	19870891	G	A	19870891	3	1	22	1	0	0	0	0	1	0	0	0	16870	1203	42	2	555	2	TXNRD2	22	19870891	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2740	19870891	31433675	20075	22221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400518.1_Intron|TXNRD2_ENST00000542719.1_Intron|TXNRD2_ENST00000400521.1_Intron|TXNRD2_ENST00000400525.1_Intron|TXNRD2_ENST00000400519.1_Intron|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000535882.1_Intron			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													37	205					2.87052e-16	3.15093e-16	1	1	0	T	19882713	G	T	19882713	2	4	22	1	0	0	0	0	0	0	0	1	16870	957	33	2		2	TXNRD2	22	19882713	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11822	19882713	31421853	20076	22222											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19883045G>A	ENST00000400519.1	-	11	830	c.831C>T	c.(829-831)ggC>ggT	p.G277G	TXNRD2_ENST00000400518.1_Silent_p.G248G|TXNRD2_ENST00000542719.1_Silent_p.G248G|TXNRD2_ENST00000400521.1_Silent_p.G278G|TXNRD2_ENST00000400525.1_Silent_p.G255G|TXNRD2_ENST00000334363.9_Silent_p.G278G|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000535882.1_Silent_p.G277G			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													10	545					0	0	1	0	0	A	19883045	G	A	19883045	2	1	22	1	0	0	0	0	0	0	0	1	16870	958	34	2		2	TXNRD2	22	19883045	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	332	19883045	31421521	20077	22223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000401994.1_Missense_Mutation_p.L580I|ARVCF_ENST00000344269.3_Missense_Mutation_p.L580I|ARVCF_ENST00000406259.1_Missense_Mutation_p.L637I|ARVCF_ENST00000406522.1_Missense_Mutation_p.L574I	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													46	205					7.34454e-26	8.44522e-26	1	1	0	T	19963242	G	T	19963242	3	4	22	1	0	0	0	0	1	0	0	0	1002	962	34	2	997	2	ARVCF	22	19963242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80197	19963242	31341324	20078	22224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000401994.1_Nonsense_Mutation_p.E531*|ARVCF_ENST00000344269.3_Nonsense_Mutation_p.E531*|ARVCF_ENST00000406259.1_Nonsense_Mutation_p.E594*|ARVCF_ENST00000406522.1_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													75	506					5.44642e-36	6.51243e-36	1	1	0	A	19965028	C	A	19965028	4	1	22	1	0	0	0	0	0	1	0	0	1002	864	30	2	1152	2	ARVCF	22	19965028	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1786	19965028	31339538	20079	22225											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000401994.1_Missense_Mutation_p.T67M|ARVCF_ENST00000344269.3_Missense_Mutation_p.T67M|ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000406259.1_Missense_Mutation_p.T130M|ARVCF_ENST00000406522.1_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													76	299					0	0	1	0	0	A	19969241	G	A	19969241	3	1	22	1	0	0	0	0	1	0	0	0	1002	1145	40	1	2559	1	ARVCF	22	19969241	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4213	19969241	31335325	20080	22226											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407755.1_Silent_p.Y70Y|DGCR8_ENST00000383024.2_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													104	431					0	0	1	0	0	T	20073696	C	T	20073696	2	4	22	1	0	0	0	0	0	0	0	1	4492	547	19	1		1	DGCR8	22	20073696	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104455	20073696	31230870	20081	22227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407755.1_Missense_Mutation_p.P283L|DGCR8_ENST00000383024.2_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													50	247					0	0	1	0	0	T	20074812	C	T	20074812	3	4	22	1	0	0	0	0	1	0	0	0	4492	652	23	1	854	1	DGCR8	22	20074812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1116	20074812	31229754	20082	22228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407755.1_Missense_Mutation_p.A623V|DGCR8_ENST00000383024.2_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													42	281					0	0	1	0	0	T	20094192	C	T	20094192	3	4	22	1	0	0	0	0	1	0	0	0	4492	768	27	1	2005	1	DGCR8	22	20094192	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19380	20094192	31210374	20083	22229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	60					0	0	1	0	0	T	20112936	C	T	20112936	3	4	22	1	0	0	0	0	1	0	0	0	13077	739	26	2	430	2	RANBP1	22	20112936	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18744	20112936	31191630	20084	22230											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405930.3_Missense_Mutation_p.A513V|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.A421V	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													79	347					0	0	1	0	0	T	20130691	C	T	20130691	3	4	22	1	0	0	0	0	1	0	0	0	17679	710	25	2	1576	2	ZDHHC8	22	20130691	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17755	20130691	31173875	20085	22231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	201					0	0	1	0	0	A	20230563	G	A	20230563	2	1	22	1	0	0	0	0	0	0	0	1	13782	1079	38	1		1	RTN4R	22	20230563	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99872	20230563	31074003	20086	22232											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	111					3.45872e-05	3.53336e-05	1	1	0	A	20458364	C	A	20458364	3	1	22	1	0	0	0	0	1	0	0	0	13414	623	22	2	1985	2	RIMBP3	22	20458364	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227801	20458364	30846202	20087	22233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	61					0	0	1	0	0	A	20459530	G	A	20459530	3	1	22	1	0	0	0	0	1	0	0	0	13414	1087	38	1	3151	1	RIMBP3	22	20459530	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1166	20459530	30845036	20088	22234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	152					0	0	1	0	0	A	20800760	G	A	20800760	2	1	22	1	0	0	0	0	0	0	0	1	8420	1136	40	1		1	KLHL22	22	20800760	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	341230	20800760	30503806	20089	22235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	252					0	0	1	0	0	A	20819860	G	A	20819860	3	1	22	1	0	0	0	0	1	0	0	0	8420	1232	43	2	1523	2	KLHL22	22	20819860	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19100	20819860	30484706	20090	22236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	172					0	0	1	0	0	A	20843290	G	A	20843290	3	1	22	1	0	0	0	0	1	0	0	0	8420	1087	38	1	1719	1	KLHL22	22	20843290	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23430	20843290	30461276	20091	22237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542773.1_Missense_Mutation_p.A138S|MED15_ENST00000382974.2_Missense_Mutation_p.A262S|MED15_ENST00000425759.2_Missense_Mutation_p.A222S|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000541476.1_Missense_Mutation_p.A307S|MED15_ENST00000292733.7_Missense_Mutation_p.A333S|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													137	648					1.207e-77	1.54108e-77	1	1	0	T	20921060	G	T	20921060	3	4	22	1	0	0	0	0	1	0	0	0	9483	971	34	2	1023	2	MED15	22	20921060	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77770	20921060	30383506	20092	22238											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542773.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.S453R|MED15_ENST00000425759.2_Missense_Mutation_p.S413R|MED15_ENST00000541476.1_Missense_Mutation_p.S498R|MED15_ENST00000292733.7_Missense_Mutation_p.S524R|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													31	735					0	0	1	0	0	C	20937634	A	C	20937634	3	2	22	1	0	0	0	0	1	0	0	0	9483	304	11	3	1740	3	MED15	22	20937634	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16574	20937634	30366932	20093	22239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	264					2.76378e-25	3.16915e-25	1	1	0	T	21087302	G	T	21087302	3	4	22	1	0	0	0	0	1	0	0	0	11921	933	33	2	2143	2	PI4KA	22	21087302	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149668	21087302	30217264	20094	22240											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	194					0	0	1	0	0	T	21105625	C	T	21105625	3	4	22	1	0	0	0	0	1	0	0	0	11921	768	27	1	3315	1	PI4KA	22	21105625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18323	21105625	30198941	20095	22241											
SERPIND1	3053	broad.mit.edu	37	chr22	21133946	21133947	+	Frame_Shift_Ins	INS	-	-	T													tgctgggaacatcctccagcINStttttcatggcaagagccgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21133946_21133947insT	ENST00000215727.5	+	2	629_630	c.346_347insT	c.(346-348)tttfs	p.F116fs	PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.F116fs	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	116					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)	CATCCTCCAGCTTTTTCATGGC	0.5													31	303	---	---	---	---						T	21133947	-	T	21133946	7	5	22	1	0	1	1	0	0	0	0	0	14164	797	28	0	348	0	SERPIND1	22	21133946	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	28321	21133946	30170620	20096	22242											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|SERPIND1_ENST00000406799.1_Silent_p.S179S|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	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													87	352					0	0	1	0	0	A	21134137	G	A	21134137	2	1	22	1	0	0	0	0	0	0	0	1	14164	1045	37	1		1	SERPIND1	22	21134137	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191	21134137	30170429	20097	22243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|SERPIND1_ENST00000406799.1_Silent_p.F477F|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	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													84	384					0	0	1	0	0	T	21141285	C	T	21141285	2	4	22	1	0	0	0	0	0	0	0	1	14164	854	30	2		2	SERPIND1	22	21141285	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7148	21141285	30163281	20098	22244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	157					0	0	1	0	0	T	21150489	C	T	21150489	3	4	22	1	0	0	0	0	1	0	0	0	11921	623	22	2	4238	2	PI4KA	22	21150489	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9204	21150489	30154077	20099	22245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21224631G>A	ENST00000215730.6	+	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	82					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													69	305					0	0	1	0	0	A	21224631	G	A	21224631	3	1	22	1	0	0	0	0	1	0	0	0	14885	1087	38	1	250	1	SNAP29	22	21224631	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74142	21224631	30079935	20100	22246	151	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21224637C>T	ENST00000215730.6	+	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	84					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													57	342					0	0	1	0	0	T	21224637	C	T	21224637	4	4	22	1	0	0	0	0	0	1	0	0	14885	827	29	2	256	2	SNAP29	22	21224637	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6	21224637	30079929	20101	22247	151	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21242053C>T	ENST00000215730.6	+	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	236	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													76	341					0	0	1	0	0	T	21242053	C	T	21242053	3	4	22	1	0	0	0	0	1	0	0	0	14885	643	23	1	724	1	SNAP29	22	21242053	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17416	21242053	30062513	20102	22248											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440238.2_Silent_p.L363L|AIFM3_ENST00000399163.2_Silent_p.L363L|AIFM3_ENST00000335375.5_Silent_p.L351L|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Silent_p.L363L|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													17	83					0	0	1	0	0	T	21330996	C	T	21330996	2	4	22	1	0	0	0	0	0	0	0	1	425	796	28	2		2	AIFM3	22	21330996	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88943	21330996	29973570	20103	22249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	LZTR1_ENST00000479606.1_Intron|AIFM3_ENST00000440238.2_Silent_p.T601T|AIFM3_ENST00000399163.2_Silent_p.T594T|AIFM3_ENST00000335375.5_Silent_p.T582T|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Silent_p.T594T|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													36	129					0	0	1	0	0	A	21335305	G	A	21335305	2	1	22	1	0	0	0	0	0	0	0	1	425	1103	39	1		1	AIFM3	22	21335305	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4309	21335305	29969261	20104	22250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.R248H	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													8	61					0	0	1	0	0	A	21345925	G	A	21345925	3	1	22	1	0	0	0	0	1	0	0	0	9183	1087	38	1	834	1	LZTR1	22	21345925	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10620	21345925	29958641	20105	22251											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	133					0	0	1	0	0	A	21354375	G	A	21354375	3	1	22	1	0	0	0	0	1	0	0	0	15909	1086	38	1	209	1	THAP7	22	21354375	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8450	21354375	29950191	20106	22252											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000336296.2_Silent_p.R388R|P2RX6_ENST00000401443.1_Silent_p.R372R|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Silent_p.R345R			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													10	38					0	0	1	0	0	G	21380774	A	G	21380774	2	3	22	1	0	0	0	0	0	0	0	1	11391	262	10	3		3	P2RX6	22	21380774	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26399	21380774	29923792	20107	22253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	236					7.50695e-29	8.75429e-29	1	1	0	T	21385522	G	T	21385522	3	4	22	1	0	0	0	0	1	0	0	0	14754	971	34	2	1343	2	SLC7A4	22	21385522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4748	21385522	29919044	20108	22254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407598.2_Silent_p.C510C|HIC2_ENST00000407464.2_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													61	344					0	0	1	0	0	T	21800714	C	T	21800714	2	4	22	1	0	0	0	0	0	0	0	1	7143	776	27	1		1	HIC2	22	21800714	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	415192	21800714	29503852	20109	22255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407598.2_Missense_Mutation_p.A562T|HIC2_ENST00000407464.2_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													32	287					0	0	1	0	0	A	21800868	G	A	21800868	3	1	22	1	0	0	0	0	1	0	0	0	7143	1087	38	1	1690	1	HIC2	22	21800868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154	21800868	29503698	20110	22256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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		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													81	409					0	0	1	0	0	T	21988516	C	T	21988516	3	4	22	1	0	0	0	0	1	0	0	0	2771	768	27	1	284	1	CCDC116	22	21988516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187648	21988516	29316050	20111	22257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	31	173					0	0	1	0	0	T	21998296	C	T	21998296	2	4	22	1	0	0	0	0	0	0	0	1	14015	697	25	2		2	SDF2L1	22	21998296	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9780	21998296	29306270	20112	22258											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22039067G>A	ENST00000406385.1	+	10	639	c.579G>A	c.(577-579)ccG>ccA	p.P193P	PPIL2_ENST00000335025.7_Silent_p.P193P|PPIL2_ENST00000398831.3_Silent_p.P193P|PPIL2_ENST00000456792.2_Silent_p.P172P|PPIL2_ENST00000492445.2_Silent_p.P193P|PPIL2_ENST00000412327.1_Silent_p.P193P			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	193					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													34	197					0	0	1	0	0	A	22039067	G	A	22039067	2	1	22	1	0	0	0	0	0	0	0	1	12376	1132	40	1		1	PPIL2	22	22039067	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40771	22039067	29265499	20113	22259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	283					0	0	1	0	0	A	22599398	G	A	22599398	3	1	22	1	0	0	0	0	1	0	0	0	17246	1377	48	2	93	2	VPREB1	22	22599398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	560331	22599398	28705168	20114	22260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	417					0	0	1	0	0	G	22868833	T	G	22868833	3	3	22	1	0	0	0	0	1	0	0	0	17872	1838	64	3	510	3	ZNF280A	22	22868833	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	269435	22868833	28435733	20115	22261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	651					0	0	1	0	0	A	22989491	G	A	22989491	3	1	22	1	0	0	0	0	1	0	0	0	6408	1261	44	2	353	2	GGTLC2	22	22989491	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120658	22989491	28315075	20116	22262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	229					0	0	1	0	0	A	23465529	G	A	23465529	3	1	22	1	0	0	0	0	1	0	0	0	6556	1087	38	1	985	1	GNAZ	22	23465529	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	476038	23465529	27839037	20117	22263											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23488872G>T	ENST00000263116.2	+	2	307	c.267_splice	c.e2+1	p.K89_splice	RAB36_ENST00000341989.4_Splice_Site_p.K89_splice	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													7	238					0.27861	0.278732	1	1	0	T	23488872	G	T	23488872	5	4	22	1	0	0	0	0	0	0	1	0	12978	1014	35	2	273	2	RAB36	22	23488872	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23343	23488872	27815694	20118	22264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23495220G>A	ENST00000263116.2	+	5	466	c.425_splice	c.e5-1	p.R142_splice	RAB36_ENST00000341989.4_Splice_Site_p.G120_splice	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													115	404					0	0	1	0	0	A	23495220	G	A	23495220	5	1	22	1	0	0	0	0	0	0	1	0	12978	1275	44	2	444	2	RAB36	22	23495220	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6348	23495220	27809346	20119	22265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RGL4_ENST00000401461.1_Intron|GUSBP11_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													112	504					0	0	1	0	0	T	24034358	C	T	24034358	2	4	22	1	0	0	0	0	0	0	0	1	13331	726	26	2		2	RGL4	22	24034358	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	539138	24034358	27270208	20120	22266											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	235					0	0	1	0	0	A	24086756	G	A	24086756	3	1	22	1	0	0	0	0	1	0	0	0	18159	1261	44	2	772	2	ZNF70	22	24086756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52398	24086756	27217810	20121	22267											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	143					0	0	1	0	0	T	24095296	C	T	24095296	3	4	22	1	0	0	0	0	1	0	0	0	17247	536	19	1	236	1	VPREB3	22	24095296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8540	24095296	27209270	20122	22268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	173					0	0	1	0	0	T	24123083	C	T	24123083	2	4	22	1	0	0	0	0	0	0	0	1	9698	726	26	2		2	MMP11	22	24123083	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27787	24123083	27181483	20123	22269											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24176329C>T	ENST00000344921.6	+	9	1354	c.1145_splice	c.e9-1	p.R383_splice	SMARCB1_ENST00000407422.3_Splice_Site_p.R365_splice|SMARCB1_ENST00000407082.3_Splice_Site_p.R328_splice|SMARCB1_ENST00000263121.7_Splice_Site_p.R374_splice			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							8	38					0	0	1	0	0	T	24176329	C	T	24176329	5	4	22	1	0	0	0	0	0	0	1	0	14828	782	27	1	1154	1	SMARCB1	22	24176329	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53246	24176329	27128237	20124	22270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	203					0	0	1	0	0	A	24177042	G	A	24177042	3	1	22	1	0	0	0	0	1	0	0	0	4476	1145	40	1	31	1	DERL3	22	24177042	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	713	24177042	27127524	20125	22271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000476077.1_Missense_Mutation_p.V178M|DERL3_ENST00000318109.7_Missense_Mutation_p.V178M|DERL3_ENST00000406855.3_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													13	216					0	0	1	0	0	T	24179333	C	T	24179333	3	4	22	1	0	0	0	0	1	0	0	0	4476	507	18	2	297	2	DERL3	22	24179333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2291	24179333	27125233	20126	22272											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	177					0	0	1	0	0	C	24455729	T	C	24455729	2	2	22	1	0	0	0	0	0	0	0	1	2546	1751	61	3		3	CABIN1	22	24455729	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	276396	24455729	26848837	20127	22273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	150					0	0	1	0	0	A	24456585	G	A	24456585	3	1	22	1	0	0	0	0	1	0	0	0	2546	1319	46	2	1640	2	CABIN1	22	24456585	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	856	24456585	26847981	20128	22274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	308					0	0	1	0	0	T	24480696	C	T	24480696	2	4	22	1	0	0	0	0	0	0	0	1	2546	738	26	2		2	CABIN1	22	24480696	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24111	24480696	26823870	20129	22275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													85	458					0	0	1	0	0	T	24509677	C	T	24509677	3	4	22	1	0	0	0	0	1	0	0	0	2546	768	27	1	4364	1	CABIN1	22	24509677	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28981	24509677	26794889	20130	22276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405822.2_Silent_p.S1586S|CABIN1_ENST00000337989.7_Silent_p.S90S	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													23	79					0	0	1	0	0	T	24561582	C	T	24561582	2	4	22	1	0	0	0	0	0	0	0	1	2546	767	27	1		1	CABIN1	22	24561582	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51905	24561582	26742984	20131	22277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	226					0	0	1	0	0	A	24583229	G	A	24583229	3	1	22	1	0	0	0	0	1	0	0	0	15464	1116	39	1	1744	1	SUSD2	22	24583229	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21647	24583229	26721337	20132	22278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	258					0	0	1	0	0	A	24583271	G	A	24583271	3	1	22	1	0	0	0	0	1	0	0	0	15464	1145	40	1	1786	1	SUSD2	22	24583271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42	24583271	26721295	20133	22279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398292.3_Missense_Mutation_p.G387S|GGT5_ENST00000418439.2_Missense_Mutation_p.G310S|GGT5_ENST00000263112.7_Missense_Mutation_p.G355S	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													28	144					0	0	1	0	0	T	24622114	C	T	24622114	3	4	22	1	0	0	0	0	1	0	0	0	6404	681	24	2	624	2	GGT5	22	24622114	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38843	24622114	26682452	20134	22280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398292.3_Missense_Mutation_p.R368W|GGT5_ENST00000418439.2_Missense_Mutation_p.R291W|GGT5_ENST00000263112.7_Missense_Mutation_p.R336W	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													37	210					0	0	1	0	0	A	24622171	G	A	24622171	3	1	22	1	0	0	0	0	1	0	0	0	6404	1115	39	1	681	1	GGT5	22	24622171	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57	24622171	26682395	20135	22281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000496497.1_Intron|KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA	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													79	295					0	0	1	0	0	T	24829461	C	T	24829461	3	4	22	1	0	0	0	0	1	0	0	0	326	739	26	2	91	2	ADORA2A	22	24829461	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207290	24829461	26475105	20136	22282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000326010.5_Missense_Mutation_p.V28I|UPB1_ENST00000382760.2_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													78	340					0	0	1	0	0	A	24891453	G	A	24891453	3	1	22	1	0	0	0	0	1	0	0	0	17062	1145	40	1	84	1	UPB1	22	24891453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61992	24891453	26413113	20137	22283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000326010.5_Missense_Mutation_p.A102D|UPB1_ENST00000382760.2_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													30	745					4.3181e-19	4.80867e-19	1	1	0	A	24898122	C	A	24898122	3	1	22	1	0	0	0	0	1	0	0	0	17062	797	28	2	315	2	UPB1	22	24898122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6669	24898122	26406444	20138	22284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000406383.2_Silent_p.K48K|GGT1_ENST00000248923.4_Silent_p.K48K|GGT1_ENST00000400383.1_Silent_p.K48K|GGT1_ENST00000400380.1_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													6	24					0	0	1	0	0	A	25007192	G	A	25007192	2	1	22	1	0	0	0	0	0	0	0	1	6403	962	34	2		2	GGT1	22	25007192	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109070	25007192	26297374	20139	22285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													162	767					2.91622e-83	3.73361e-83	1	1	0	A	25131759	C	A	25131759	3	1	22	1	0	0	0	0	1	0	0	0	12007	797	28	2	1134	2	PIWIL3	22	25131759	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124567	25131759	26172807	20140	22286											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	328					0	0	1	0	0	A	25144975	G	A	25144975	4	1	22	1	0	0	0	0	0	1	0	0	12007	1153	40	1	1340	1	PIWIL3	22	25144975	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13216	25144975	26159591	20141	22287											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	117					0	0	1	0	0	T	25251355	C	T	25251355	2	4	22	1	0	0	0	0	0	0	0	1	14276	610	22	2		2	SGSM1	22	25251355	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106380	25251355	26053211	20142	22288											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	171					0	0	1	0	0	A	25251633	G	A	25251633	3	1	22	1	0	0	0	0	1	0	0	0	14276	1145	40	1	817	1	SGSM1	22	25251633	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278	25251633	26052933	20143	22289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	339					0	0	1	0	0	A	25331516	G	A	25331516	2	1	22	1	0	0	0	0	0	0	0	1	16195	987	35	2		2	TMEM211	22	25331516	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79883	25331516	25973050	20144	22290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25601329C>T	ENST00000215855.2	+	5	550	c.470_splice	c.e5+1	p.T157_splice	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													18	111					0	0	1	0	0	T	25601329	C	T	25601329	5	4	22	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	20145	22291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	149					0	0	1	0	0	T	25625529	C	T	25625529	3	4	22	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	20146	22292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	542					0	0	1	0	0	A	25627693	G	A	25627693	3	1	22	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	20147	22293											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000444995.3_Intron|LRP5L_ENST00000402785.2_Missense_Mutation_p.A244D	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													35	415					3.66854e-30	4.2996e-30	1	1	0	T	25747794	G	T	25747794	3	4	22	1	0	0	0	0	1	0	0	0	9006	971	34	2	31	2	LRP5L	22	25747794	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120101	25747794	25556772	20148	22294											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402859.2_Silent_p.V150V|LRP5L_ENST00000402785.2_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													50	200					0	0	1	0	0	A	25750768	G	A	25750768	2	1	22	1	0	0	0	0	0	0	0	1	9006	1045	37	1		1	LRP5L	22	25750768	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2974	25750768	25553798	20149	22295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26107046C>A	ENST00000324198.5	+	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	469	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													11	141					0.000978159	0.000988919	1	1	0	A	26107046	C	A	26107046	2	1	22	1	0	0	0	0	0	0	0	1	343	668	24	2		2	ADRBK2	22	26107046	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	356278	26107046	25197520	20150	22296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536101.1_Missense_Mutation_p.A8T|MYO18B_ENST00000407587.2_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													9	476					0	0	1	0	0	A	26157081	G	A	26157081	3	1	22	1	0	0	0	0	1	0	0	0	10114	1087	38	1	24	1	MYO18B	22	26157081	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50035	26157081	25147485	20151	22297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536101.1_Missense_Mutation_p.T382N|MYO18B_ENST00000407587.2_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													19	87					6.94344e-10	7.33246e-10	1	1	0	A	26165028	C	A	26165028	3	1	22	1	0	0	0	0	1	0	0	0	10114	565	20	2	1155	2	MYO18B	22	26165028	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7947	26165028	25139538	20152	22298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536101.1_Nonsense_Mutation_p.Q989*|MYO18B_ENST00000407587.2_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													43	192					0	0	1	0	0	T	26224921	C	T	26224921	4	4	22	1	0	0	0	0	0	1	0	0	10114	479	17	2	3019	2	MYO18B	22	26224921	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59893	26224921	25079645	20153	22299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536101.1_Missense_Mutation_p.A1934T|MYO18B_ENST00000407587.2_Missense_Mutation_p.A1935T	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													8	60					0	0	1	0	0	A	26346384	G	A	26346384	3	1	22	1	0	0	0	0	1	0	0	0	10114	971	34	2	5942	2	MYO18B	22	26346384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121463	26346384	24958182	20154	22300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536101.1_Missense_Mutation_p.E2110K|MYO18B_ENST00000407587.2_Missense_Mutation_p.E2111K	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													14	52					0	0	1	0	0	A	26399271	G	A	26399271	3	1	22	1	0	0	0	0	1	0	0	0	10114	943	33	2	6486	2	MYO18B	22	26399271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52887	26399271	24905295	20155	22301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536101.1_Missense_Mutation_p.E2497D|MYO18B_ENST00000407587.2_Missense_Mutation_p.E2498D	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													45	174					1.15505e-17	1.27701e-17	1	1	0	T	26423431	G	T	26423431	3	4	22	1	0	0	0	0	1	0	0	0	10114	962	34	2	7657	2	MYO18B	22	26423431	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24160	26423431	24881135	20156	22302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360929.3_Silent_p.N860N|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000402979.1_Silent_p.N697N|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000411842.2_Silent_p.N121N|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000248933.6_Silent_p.N924N|SEZ6L_ENST00000404234.3_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													41	230					0	0	1	0	0	T	26761510	C	T	26761510	2	4	22	1	0	0	0	0	0	0	0	1	14197	535	19	1		1	SEZ6L	22	26761510	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	338079	26761510	24543056	20157	22303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	510					0	0	1	0	0	A	26830336	G	A	26830336	3	1	22	1	0	0	0	0	1	0	0	0	1054	1087	38	1	757	1	ASPHD2	22	26830336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68826	26830336	24474230	20158	22304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	685					0	0	1	0	0	G	26838423	A	G	26838423	5	3	22	1	0	0	0	0	0	0	1	0	1054	86	3	3	891	3	ASPHD2	22	26838423	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8087	26838423	24466143	20159	22305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000493455.2_5'UTR|HPS4_ENST00000336873.5_Silent_p.A577A|HPS4_ENST00000398141.1_Silent_p.A590A|HPS4_ENST00000402105.3_Silent_p.A572A	NM_022081.4	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				24	159					0	0	1	0	0	C	26854526	A	C	26854526	2	2	22	1	0	0	0	0	0	0	0	1	7382	59	3	3		3	HPS4	22	26854526	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16103	26854526	24450040	20160	22306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000493455.2_5'UTR|HPS4_ENST00000336873.5_Missense_Mutation_p.L553M|HPS4_ENST00000398141.1_Missense_Mutation_p.L566M|HPS4_ENST00000402105.3_Missense_Mutation_p.L548M	NM_022081.4	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				9	269					0.00621372	0.0062537	1	1	0	T	26859939	G	T	26859939	3	4	22	1	0	0	0	0	1	0	0	0	7382	962	34	2	485	2	HPS4	22	26859939	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5413	26859939	24444627	20161	22307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000336873.5_Silent_p.N325N|HPS4_ENST00000398141.1_Silent_p.N338N|HPS4_ENST00000402105.3_Silent_p.N320N	NM_022081.4	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				85	379					0	0	1	0	0	A	26860621	G	A	26860621	2	1	22	1	0	0	0	0	0	0	0	1	7382	1136	40	1		1	HPS4	22	26860621	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	682	26860621	24443945	20162	22308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000336873.5_Missense_Mutation_p.A255D|HPS4_ENST00000398141.1_Missense_Mutation_p.A268D|HPS4_ENST00000402105.3_Missense_Mutation_p.A250D	NM_022081.4	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				60	277					4.46356e-37	5.35602e-37	1	1	0	T	26861460	G	T	26861460	3	4	22	1	0	0	0	0	1	0	0	0	7382	1203	42	2	1382	2	HPS4	22	26861460	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	839	26861460	24443106	20163	22309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26887573T>C	ENST00000215917.6	+	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	319					rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AGAACCAGATTATCAGGACTG	0.443													12	306					0	0	1	0	0	C	26887573	T	C	26887573	3	2	22	1	0	0	0	0	1	0	0	0	15223	1754	61	3	981	3	SRRD	22	26887573	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26113	26887573	24416993	20164	22310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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													55	223					0	0	1	0	0	T	26888122	C	T	26888122	3	4	22	1	0	0	0	0	1	0	0	0	15867	536	19	1	146	1	TFIP11	22	26888122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	549	26888122	24416444	20165	22311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	414					0	0	1	0	0	T	26902834	C	T	26902834	2	4	22	1	0	0	0	0	0	0	0	1	15867	639	23	1		1	TFIP11	22	26902834	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14712	26902834	24401732	20166	22312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	156					0	0	1	0	0	T	26937351	C	T	26937351	2	4	22	1	0	0	0	0	0	0	0	1	16489	523	19	1		1	TPST2	22	26937351	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34517	26937351	24367215	20167	22313											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													174	829					0	0	1	0	0	A	27021478	G	A	27021478	2	1	22	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	20168	22314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								27	127					0	0	1	0	0	A	28193583	G	A	28193583	2	1	22	1	0	0	0	0	0	0	0	1	9722	1074	38	1		1	MN1	22	28193583	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1172105	28193583	23110983	20169	22315											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								163	664					0	0	1	0	0	T	28193973	C	T	28193973	2	4	22	1	0	0	0	0	0	0	0	1	9722	755	27	1		1	MN1	22	28193973	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	390	28193973	23110593	20170	22316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								26	134					0	0	1	0	0	T	28195094	C	T	28195094	3	4	22	1	0	0	0	0	1	0	0	0	9722	652	23	1	2532	1	MN1	22	28195094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1121	28195094	23109472	20171	22317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								68	287					0	0	1	0	0	T	28196327	C	T	28196327	3	4	22	1	0	0	0	0	1	0	0	0	9722	652	23	1	3765	1	MN1	22	28196327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1233	28196327	23108239	20172	22318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								10	287					0	0	1	0	0	T	28196482	C	T	28196482	3	4	22	1	0	0	0	0	1	0	0	0	9722	739	26	2	3920	2	MN1	22	28196482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	28196482	23108084	20173	22319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000320996.10_Missense_Mutation_p.G171D|PITPNB_ENST00000455418.3_Missense_Mutation_p.G173D	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													36	131					0	0	1	0	0	T	28269748	C	T	28269748	3	4	22	1	0	0	0	0	1	0	0	0	11996	739	26	2	319	2	PITPNB	22	28269748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73266	28269748	23034818	20174	22320											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448492.2_Missense_Mutation_p.R185C|CCDC117_ENST00000421503.2_Missense_Mutation_p.R128C	NM_173510.2	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													12	283					0	0	1	0	0	T	29182081	C	T	29182081	3	4	22	1	0	0	0	0	1	0	0	0	2772	652	23	1	625	1	CCDC117	22	29182081	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	912333	29182081	22122485	20175	22321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000406323.3_Silent_p.S423S|ZNRF3_ENST00000402174.1_Silent_p.S423S|ZNRF3_ENST00000332811.4_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													8	186					0	0	1	0	0	T	29445738	C	T	29445738	2	4	22	1	0	0	0	0	0	0	0	1	18255	767	27	1		1	ZNRF3	22	29445738	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	263657	29445738	21858828	20176	22322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000406323.3_Missense_Mutation_p.A611T|ZNRF3_ENST00000402174.1_Missense_Mutation_p.A611T|ZNRF3_ENST00000332811.4_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													38	146					0	0	1	0	0	A	29446300	G	A	29446300	3	1	22	1	0	0	0	0	1	0	0	0	18255	1319	46	2	1857	2	ZNRF3	22	29446300	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	562	29446300	21858266	20177	22323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000406323.3_Missense_Mutation_p.G653R|ZNRF3_ENST00000402174.1_Missense_Mutation_p.G653R|ZNRF3_ENST00000332811.4_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													48	168					0	0	1	0	0	A	29446426	G	A	29446426	3	1	22	1	0	0	0	0	1	0	0	0	18255	1001	35	2	1983	2	ZNRF3	22	29446426	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126	29446426	21858140	20178	22324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29455169C>T	ENST00000216071.4	-	3	485	c.432_splice	c.e3-1	p.S145_splice		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													18	410					0	0	1	0	0	T	29455169	C	T	29455169	5	4	22	1	0	0	0	0	0	0	1	0	2157	579	20	2	442	2	C22orf31	22	29455169	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8743	29455169	21849397	20179	22325											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407188.1_Missense_Mutation_p.L120R|KREMEN1_ENST00000400335.4_Missense_Mutation_p.L122R|KREMEN1_ENST00000327813.5_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													99	410					0	0	1	0	0	G	29517357	T	G	29517357	3	3	22	1	0	0	0	0	1	0	0	0	8485	1609	56	3	379	3	KREMEN1	22	29517357	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	62188	29517357	21787209	20180	22326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407188.1_Missense_Mutation_p.A311T|KREMEN1_ENST00000400335.4_Missense_Mutation_p.A313T|KREMEN1_ENST00000327813.5_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													36	170					0	0	1	0	0	A	29533635	G	A	29533635	3	1	22	1	0	0	0	0	1	0	0	0	8485	1203	42	2	959	2	KREMEN1	22	29533635	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16278	29533635	21770931	20181	22327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000333395.6_Silent_p.A97A|EWSR1_ENST00000331029.7_Silent_p.A97A|EWSR1_ENST00000332050.6_Silent_p.A97A|EWSR1_ENST00000406548.1_Silent_p.A97A|EWSR1_ENST00000414183.2_Silent_p.A103A	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"								48	174					0	0	1	0	0	G	29674083	T	G	29674083	2	3	22	1	0	0	0	0	0	0	0	1	5323	1596	56	3		3	EWSR1	22	29674083	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	140448	29674083	21630483	20182	22328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000333395.6_Missense_Mutation_p.P139L|EWSR1_ENST00000331029.7_Missense_Mutation_p.P139L|EWSR1_ENST00000332050.6_Missense_Mutation_p.P139L|EWSR1_ENST00000406548.1_Missense_Mutation_p.P139L|EWSR1_ENST00000414183.2_Missense_Mutation_p.P145L	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"								11	73					0	0	1	0	0	T	29678381	C	T	29678381	3	4	22	1	0	0	0	0	1	0	0	0	5323	652	23	1	460	1	EWSR1	22	29678381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4298	29678381	21626185	20183	22329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000341313.6_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000403764.1_Silent_p.S518S|GAS2L1_ENST00000407647.2_Silent_p.S518S|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000407854.1_Silent_p.S518S			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													146	530					0	0	1	0	0	T	29707995	C	T	29707995	2	4	22	1	0	0	0	0	0	0	0	1	6286	639	23	1		1	GAS2L1	22	29707995	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29614	29707995	21596571	20184	22330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360113.2_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000407854.1_3'UTR			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													20	125					0	0	1	0	0	T	29708458	C	T	29708458	3	4	22	1	0	0	0	0	1	0	0	0	6286	644	23	1	2039	1	GAS2L1	22	29708458	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	463	29708458	21596108	20185	22331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000432560.2_Missense_Mutation_p.A769T|AP1B1_ENST00000317368.7_Missense_Mutation_p.A749T|AP1B1_ENST00000415447.1_Missense_Mutation_p.A769T|AP1B1_ENST00000402502.1_Missense_Mutation_p.A769T|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000405198.1_Missense_Mutation_p.A776T|AP1B1_ENST00000356015.2_Missense_Mutation_p.A769T	NM_001127.3	NP_001118.3	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													61	248					0	0	1	0	0	T	29727889	C	T	29727889	3	4	22	1	0	0	0	0	1	0	0	0	727	768	27	1	547	1	AP1B1	22	29727889	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19431	29727889	21576677	20186	22332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461286.2_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													13	640					0	0	1	0	0	T	29835141	C	T	29835141	3	4	22	1	0	0	0	0	1	0	0	0	13305	759	27	1	363	1	RFPL1	22	29835141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107252	29835141	21469425	20187	22333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	253					0	0	1	0	0	T	29881809	C	T	29881809	3	4	22	1	0	0	0	0	1	0	0	0	10361	797	28	2	1191	2	NEFH	22	29881809	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46668	29881809	21422757	20188	22334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	175					0	0	1	0	0	A	29886650	T	A	29886650	2	1	22	1	0	0	0	0	0	0	0	1	10361	1538	54	5		5	NEFH	22	29886650	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4841	29886650	21417916	20189	22335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	THOC5_ENST00000397871.1_Missense_Mutation_p.Q508H|THOC5_ENST00000397873.2_Missense_Mutation_p.Q508H|THOC5_ENST00000397872.1_Missense_Mutation_p.Q508H|CTA-256D12.11_ENST00000411969.1_RNA	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													28	104					1.06801e-11	1.14091e-11	1	1	0	A	29913321	C	A	29913321	3	1	22	1	0	0	0	0	1	0	0	0	15928	564	20	2	547	2	THOC5	22	29913321	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26671	29913321	21391245	20190	22336											
NF2	4771	broad.mit.edu	37	chr22	30050682	30050682	+	Frame_Shift_Del	DEL	T	T	-													ccagtgttcacaagcggggaTttttggcccaagaggaattg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30050682delT	ENST00000338641.4	+	5	925	c.484delT	c.(484-486)ttfs	p.F162fs	NF2_ENST00000347330.5_Intron|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	162	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CAAGCGGGGATTTTTGGCCCA	0.423			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2				9	1034	---	---	---	---						-	30050682	T	-	30050682	7	5	22	1	0	1	0	1	0	0	0	0	10404	1493	52	0	502	0	NF2	22	30050682	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	137361	30050682	21253884	20191	22337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	283					0	0	1	0	0	T	30144499	C	T	30144499	3	4	22	1	0	0	0	0	1	0	0	0	17753	768	27	1	497	1	ZMAT5	22	30144499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93817	30144499	21160067	20192	22338											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000307790.3_Nonsense_Mutation_p.E687*|ASCC2_ENST00000542393.1_Nonsense_Mutation_p.E611*			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													41	210					4.01765e-15	4.38033e-15	1	1	0	A	30186501	C	A	30186501	4	1	22	1	0	0	0	0	0	1	0	0	1031	922	32	2	222	2	ASCC2	22	30186501	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42002	30186501	21118065	20193	22339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000478812.1_5'UTR|ASCC2_ENST00000307790.3_Silent_p.I183I|ASCC2_ENST00000542393.1_Silent_p.I107I			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													9	43					1.12685e-05	1.15515e-05	1	1	0	T	30212055	G	T	30212055	2	4	22	1	0	0	0	0	0	0	0	1	1031	932	33	2		2	ASCC2	22	30212055	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25554	30212055	21092511	20194	22340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	224					0	0	1	0	0	A	30640766	G	A	30640766	3	1	22	1	0	0	0	0	1	0	0	0	8819	1203	42	2	440	2	LIF	22	30640766	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	428711	30640766	20663800	20195	22341											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30689795C>T	ENST00000215790.7	-	8	1060		c.e8-1		RP1-130H16.18_ENST00000447976.1_Splice_Site|TBC1D10A_ENST00000403362.1_Splice_Site|TBC1D10A_ENST00000403477.3_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													71	332					0	0	1	0	0	T	30689795	C	T	30689795	5	4	22	1	0	0	0	0	0	0	1	0	15655	695	24	2	639	2	TBC1D10A	22	30689795	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49029	30689795	20614771	20196	22342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30735152G>A	ENST00000439242.1	-	10	1400	c.1269C>T	c.(1267-1269)atC>atT	p.I423I	SF3A1_ENST00000215793.7_Silent_p.I488I	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	488					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													140	691					0	0	1	0	0	A	30735152	G	A	30735152	2	1	22	1	0	0	0	0	0	0	0	1	14200	1048	37	1		1	SF3A1	22	30735152	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45357	30735152	20569414	20197	22343											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30737858G>T	ENST00000439242.1	-	7	830	c.699C>A	c.(697-699)ccC>ccA	p.P233P	SF3A1_ENST00000215793.7_Silent_p.P298P	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	298					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													10	288					2.17888e-05	2.22852e-05	1	1	0	T	30737858	G	T	30737858	2	4	22	1	0	0	0	0	0	0	0	1	14200	1335	47	2		2	SF3A1	22	30737858	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2706	30737858	20566708	20198	22344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	311					0	0	1	0	0	C	30782666	T	C	30782666	3	2	22	1	0	0	0	0	1	0	0	0	13531	1580	55	3	797	3	RNF215	22	30782666	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44808	30782666	20521900	20199	22345											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402592.3_Silent_p.A87A|RP4-539M6.19_ENST00000439838.1_Silent_p.A4A|SEC14L2_ENST00000405717.3_Silent_p.A170A|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													59	197					0	0	1	0	0	T	30805262	C	T	30805262	2	4	22	1	0	0	0	0	0	0	0	1	14036	668	24	2		2	SEC14L2	22	30805262	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22596	30805262	20499304	20200	22346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000401751.1_Missense_Mutation_p.A315T|SEC14L3_ENST00000402286.1_Missense_Mutation_p.A297T|SEC14L3_ENST00000415957.2_Intron|SEC14L3_ENST00000403066.1_Intron|SEC14L3_ENST00000539629.1_Missense_Mutation_p.A315T|SEC14L3_ENST00000540910.1_Missense_Mutation_p.A297T	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													67	324					0	0	1	0	0	T	30856091	C	T	30856091	3	4	22	1	0	0	0	0	1	0	0	0	14037	768	27	1	86	1	SEC14L3	22	30856091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50829	30856091	20448475	20201	22347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000401751.1_Missense_Mutation_p.P279S|SEC14L3_ENST00000215812.4_Missense_Mutation_p.P338S|SEC14L3_ENST00000402286.1_Missense_Mutation_p.P261S|SEC14L3_ENST00000415957.2_Missense_Mutation_p.P279S|SEC14L3_ENST00000539629.1_Missense_Mutation_p.P279S|SEC14L3_ENST00000540910.1_Missense_Mutation_p.P261S			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													77	358					0	0	1	0	0	A	30857366	G	A	30857366	3	1	22	1	0	0	0	0	1	0	0	0	14037	1261	44	2	198	2	SEC14L3	22	30857366	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1275	30857366	20447200	20202	22348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381982.3_Missense_Mutation_p.A149V|SEC14L4_ENST00000255858.7_Missense_Mutation_p.A149V|SEC14L4_ENST00000540456.1_Missense_Mutation_p.A134V			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													82	329					0	0	1	0	0	A	30890926	G	A	30890926	3	1	22	1	0	0	0	0	1	0	0	0	14038	1087	38	1	808	1	SEC14L4	22	30890926	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33560	30890926	20413640	20203	22349											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443111.2_Silent_p.N338N|GAL3ST1_ENST00000406955.1_Silent_p.N338N|GAL3ST1_ENST00000338911.5_Silent_p.N338N|GAL3ST1_ENST00000401975.1_Silent_p.N338N|GAL3ST1_ENST00000406361.1_Silent_p.N338N|GAL3ST1_ENST00000402369.1_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													48	171					0	0	1	0	0	A	30951198	G	A	30951198	2	1	22	1	0	0	0	0	0	0	0	1	6237	1136	40	1		1	GAL3ST1	22	30951198	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60272	30951198	20353368	20204	22350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443111.2_Missense_Mutation_p.P179L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.P179L|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000402369.1_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													99	418					0	0	1	0	0	A	30951676	G	A	30951676	3	1	22	1	0	0	0	0	1	0	0	0	6237	1116	39	1	739	1	GAL3ST1	22	30951676	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	478	30951676	20352890	20205	22351											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443111.2_Silent_p.F115F|GAL3ST1_ENST00000406955.1_Silent_p.F115F|GAL3ST1_ENST00000338911.5_Silent_p.F115F|GAL3ST1_ENST00000401975.1_Silent_p.F115F|GAL3ST1_ENST00000406361.1_Silent_p.F115F|GAL3ST1_ENST00000402369.1_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													53	598					0	0	1	0	0	A	30951867	G	A	30951867	2	1	22	1	0	0	0	0	0	0	0	1	6237	1049	37	1		1	GAL3ST1	22	30951867	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191	30951867	20352699	20206	22352											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354694.6_Silent_p.H154H|PES1_ENST00000335214.6_Silent_p.H154H|PES1_ENST00000405677.1_Silent_p.H15H|PES1_ENST00000402284.3_Silent_p.H154H			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													31	142					0	0	1	0	0	A	30980611	G	A	30980611	2	1	22	1	0	0	0	0	0	0	0	1	11780	1136	40	1		1	PES1	22	30980611	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28744	30980611	20323955	20207	22353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405742.3_Missense_Mutation_p.N111K|TCN2_ENST00000407817.3_Splice_Site_p.N115_splice			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													60	252					3.89483e-19	4.33865e-19	1	1	0	A	31008947	C	A	31008947	3	1	22	1	0	0	0	0	1	0	0	0	15767	579	20	2	355	2	TCN2	22	31008947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28336	31008947	20295619	20208	22354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405742.3_Missense_Mutation_p.S241I|TCN2_ENST00000407817.3_Missense_Mutation_p.S218I			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													39	256					8.69298e-16	9.51602e-16	1	1	0	T	31011441	G	T	31011441	3	4	22	1	0	0	0	0	1	0	0	0	15767	971	34	2	752	2	TCN2	22	31011441	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2494	31011441	20293125	20209	22355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405742.3_Missense_Mutation_p.M254K|TCN2_ENST00000407817.3_Missense_Mutation_p.M231K			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													39	203					0	0	1	0	0	A	31011607	T	A	31011607	3	1	22	1	0	0	0	0	1	0	0	0	15767	1464	51	5	795	5	TCN2	22	31011607	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	166	31011607	20292959	20210	22356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405742.3_Missense_Mutation_p.L306M|TCN2_ENST00000407817.3_Missense_Mutation_p.L283M			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													41	479					2.47872e-24	2.8326e-24	1	1	0	A	31011762	C	A	31011762	3	1	22	1	0	0	0	0	1	0	0	0	15767	912	32	2	950	2	TCN2	22	31011762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	31011762	20292804	20211	22357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	172					0	0	1	0	0	A	31032960	G	A	31032960	3	1	22	1	0	0	0	0	1	0	0	0	14642	1087	38	1	525	1	SLC35E4	22	31032960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21198	31032960	20271606	20212	22358											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407373.1_Intron|OSBP2_ENST00000382310.3_Silent_p.G170G|OSBP2_ENST00000446658.2_Silent_p.G170G|OSBP2_ENST00000403222.3_Intron	NM_030758.3	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													66	302					0	0	1	0	0	T	31091406	C	T	31091406	2	4	22	1	0	0	0	0	0	0	0	1	11321	697	25	2		2	OSBP2	22	31091406	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58446	31091406	20213160	20213	22359											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000496575.1_Intron|OSBP2_ENST00000407373.1_Nonsense_Mutation_p.W471*|OSBP2_ENST00000382310.3_Nonsense_Mutation_p.W595*|OSBP2_ENST00000401475.1_Nonsense_Mutation_p.W277*|OSBP2_ENST00000446658.2_Nonsense_Mutation_p.W643*|OSBP2_ENST00000403222.3_Nonsense_Mutation_p.W478*|OSBP2_ENST00000535268.1_Nonsense_Mutation_p.W188*|OSBP2_ENST00000437268.2_Nonsense_Mutation_p.W386*	NM_030758.3	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													45	182					0	0	1	0	0	A	31289171	G	A	31289171	4	1	22	1	0	0	0	0	0	1	0	0	11321	1212	42	2	1966	2	OSBP2	22	31289171	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	197765	31289171	20015395	20214	22360											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475548.1_3'UTR|SMTN_ENST00000358743.1_Missense_Mutation_p.R29H|SMTN_ENST00000347557.2_Missense_Mutation_p.R29H	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													40	146					0	0	1	0	0	A	31483985	G	A	31483985	3	1	22	1	0	0	0	0	1	0	0	0	14868	1087	38	1	92	1	SMTN	22	31483985	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194814	31483985	19820581	20215	22361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475548.1_3'UTR|SMTN_ENST00000358743.1_Missense_Mutation_p.A73D|SMTN_ENST00000347557.2_Missense_Mutation_p.A73D	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													63	640					2.6465e-34	3.14731e-34	1	1	0	A	31484516	C	A	31484516	3	1	22	1	0	0	0	0	1	0	0	0	14868	797	28	2	228	2	SMTN	22	31484516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	531	31484516	19820050	20216	22362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	94					0	0	1	0	0	T	31484712	C	T	31484712	3	4	22	1	0	0	0	0	1	0	0	0	14868	768	27	1	336	1	SMTN	22	31484712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	196	31484712	19819854	20217	22363											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000333137.7_Intron|SMTN_ENST00000358743.1_Intron|SMTN_ENST00000347557.2_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													20	50					0	0	1	0	0	A	31489809	G	A	31489809	3	1	22	1	0	0	0	0	1	0	0	0	14868	1334	46	2		2	SMTN	22	31489809	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5097	31489809	19814757	20218	22364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404574.1_Missense_Mutation_p.R287C|SMTN_ENST00000358743.1_Missense_Mutation_p.R764C|SMTN_ENST00000347557.2_Missense_Mutation_p.R764C	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													21	150					0	0	1	0	0	T	31494783	C	T	31494783	3	4	22	1	0	0	0	0	1	0	0	0	14868	768	27	1	2352	1	SMTN	22	31494783	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4974	31494783	19809783	20219	22365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000401755.1_Missense_Mutation_p.S229N|INPP5J_ENST00000405300.1_Missense_Mutation_p.S497N|INPP5J_ENST00000412277.2_Missense_Mutation_p.S797N|INPP5J_ENST00000402238.1_Missense_Mutation_p.S203N|INPP5J_ENST00000404390.3_Missense_Mutation_p.S496N|INPP5J_ENST00000404453.1_Missense_Mutation_p.S229N|INPP5J_ENST00000400294.2_Missense_Mutation_p.S497N			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													12	116					0	0	1	0	0	A	31529975	G	A	31529975	3	1	22	1	0	0	0	0	1	0	0	0	7803	971	34	2	1537	2	INPP5J	22	31529975	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35192	31529975	19774591	20220	22366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	274					0	0	1	0	0	T	31531903	C	T	31531903	3	4	22	1	0	0	0	0	1	0	0	0	12048	739	26	2	197	2	PLA2G3	22	31531903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1928	31531903	19772663	20221	22367											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	214					0	0	1	0	0	T	31535981	C	T	31535981	2	4	22	1	0	0	0	0	0	0	0	1	12048	755	27	1		1	PLA2G3	22	31535981	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4078	31535981	19768585	20222	22368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	400					0	0	1	0	0	C	31654314	T	C	31654314	3	2	22	1	0	0	0	0	1	0	0	0	8842	1522	53	3	221	3	LIMK2	22	31654314	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	118333	31654314	19650252	20223	22369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	44	202					0	0	1	0	0	C	31669446	T	C	31669446	3	2	22	1	0	0	0	0	1	0	0	0	8842	1522	53	3	1678	3	LIMK2	22	31669446	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15132	31669446	19635120	20224	22370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP3-400N23.6_ENST00000451161.1_RNA|PATZ1_ENST00000405309.3_Missense_Mutation_p.R478Q|PATZ1_ENST00000351933.4_Missense_Mutation_p.R478Q|RP3-400N23.6_ENST00000440456.1_RNA	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													64	271					0	0	1	0	0	T	31731752	C	T	31731752	3	4	22	1	0	0	0	0	1	0	0	0	11523	652	23	1	642	1	PATZ1	22	31731752	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62306	31731752	19572814	20225	22371											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344710.5_Silent_p.P793P|EIF4ENIF1_ENST00000382180.2_Silent_p.P622P|EIF4ENIF1_ENST00000397523.1_Silent_p.P943P|EIF4ENIF1_ENST00000330125.5_Silent_p.P967P	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													58	312					0	0	1	0	0	A	31835923	G	A	31835923	2	1	22	1	0	0	0	0	0	0	0	1	5063	1219	43	2		2	EIF4ENIF1	22	31835923	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104171	31835923	19468643	20226	22372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344710.5_Missense_Mutation_p.P434H|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.P264H|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.P585H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.P609H	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													94	500					2.28175e-60	2.86979e-60	1	1	0	T	31844161	G	T	31844161	3	4	22	1	0	0	0	0	1	0	0	0	5063	1232	43	2	1162	2	EIF4ENIF1	22	31844161	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8238	31844161	19460405	20227	22373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400288.2_Missense_Mutation_p.E127A|SFI1_ENST00000443011.1_Missense_Mutation_p.E45A|SFI1_ENST00000414585.1_Missense_Mutation_p.E45A|SFI1_ENST00000400289.1_Missense_Mutation_p.E45A|SFI1_ENST00000540643.1_Missense_Mutation_p.E103A|SFI1_ENST00000443326.1_Missense_Mutation_p.E45A	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													115	458					0	0	1	0	0	C	31942888	A	C	31942888	3	2	22	1	0	0	0	0	1	0	0	0	14210	246	9	3	394	3	SFI1	22	31942888	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	98727	31942888	19361678	20228	22374											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400288.2_Missense_Mutation_p.A727D|SFI1_ENST00000443326.1_Missense_Mutation_p.A645D|SFI1_ENST00000414585.1_Missense_Mutation_p.A574D|SFI1_ENST00000400289.1_Missense_Mutation_p.A645D|SFI1_ENST00000540643.1_Missense_Mutation_p.A672D|SFI1_ENST00000443011.1_Missense_Mutation_p.A574D	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													18	128					1.9806e-07	2.05782e-07	1	1	0	A	32003945	C	A	32003945	3	1	22	1	0	0	0	0	1	0	0	0	14210	797	28	2	2262	2	SFI1	22	32003945	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61057	32003945	19300621	20229	22375											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400288.2_Silent_p.A1229A|SFI1_ENST00000443326.1_Silent_p.A1147A|SFI1_ENST00000414585.1_3'UTR|SFI1_ENST00000400289.1_Silent_p.A1147A|SFI1_ENST00000540643.1_Silent_p.A1174A|SFI1_ENST00000474741.1_3'UTR|SFI1_ENST00000443011.1_Silent_p.A1076A	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													22	88					0	0	1	0	0	T	32014362	C	T	32014362	2	4	22	1	0	0	0	0	0	0	0	1	14210	668	24	2		2	SFI1	22	32014362	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10417	32014362	19290204	20230	22376											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382105.2_Silent_p.F601F|DEPDC5_ENST00000382111.2_Silent_p.F601F|DEPDC5_ENST00000400248.1_Silent_p.F601F|DEPDC5_ENST00000535622.1_Silent_p.F601F|DEPDC5_ENST00000382112.3_Silent_p.F601F|DEPDC5_ENST00000400249.2_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													112	512					0	0	1	0	0	T	32215144	C	T	32215144	2	4	22	1	0	0	0	0	0	0	0	1	4470	883	31	1		1	DEPDC5	22	32215144	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200782	32215144	19089422	20231	22377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382105.2_Intron|DEPDC5_ENST00000382111.2_Missense_Mutation_p.A667D|DEPDC5_ENST00000400248.1_Missense_Mutation_p.A667D|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000382112.3_Missense_Mutation_p.A667D|DEPDC5_ENST00000400249.2_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													152	720					7.52437e-61	9.46778e-61	1	1	0	A	32217617	C	A	32217617	3	1	22	1	0	0	0	0	1	0	0	0	4470	797	28	2	2104	2	DEPDC5	22	32217617	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2473	32217617	19086949	20232	22378											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382105.2_Missense_Mutation_p.L1115M|DEPDC5_ENST00000382111.2_Missense_Mutation_p.L1193M|DEPDC5_ENST00000400248.1_Missense_Mutation_p.L1162M|DEPDC5_ENST00000535622.1_Missense_Mutation_p.L1093M|DEPDC5_ENST00000382112.3_Missense_Mutation_p.L1184M|DEPDC5_ENST00000400249.2_Missense_Mutation_p.L1162M|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													15	50					2.31682e-05	2.36778e-05	1	1	0	A	32270272	C	A	32270272	3	1	22	1	0	0	0	0	1	0	0	0	4470	796	28	2	3706	2	DEPDC5	22	32270272	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52655	32270272	19034294	20233	22379											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000248975.5_Intron|YWHAH_ENST00000471374.1_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													7	322					0	0	1	0	0	T	32346405	C	T	32346405	2	4	22	1	0	0	0	0	0	0	0	1	17564	783	27	1		1	YWHAH	22	32346405	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76133	32346405	18958161	20234	22380											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_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													91	301					0	0	1	0	0	T	32352162	C	T	32352162	4	4	22	1	0	0	0	0	0	1	0	0	17564	876	31	1	130	1	YWHAH	22	32352162	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5757	32352162	18952404	20235	22381											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													237	984					0	0	1	0	0	A	32495260	G	A	32495260	2	1	22	1	0	0	0	0	0	0	0	1	14716	1020	36	2		2	SLC5A1	22	32495260	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143098	32495260	18809306	20236	22382											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	556					0	0	1	0	0	A	32498116	G	A	32498116	2	1	22	1	0	0	0	0	0	0	0	1	14716	1045	37	1		1	SLC5A1	22	32498116	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2856	32498116	18806450	20237	22383											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													241	1045					0	0	1	0	0	A	32555003	G	A	32555003	3	1	22	1	0	0	0	0	1	0	0	0	2163	1116	39	1	591	1	C22orf42	22	32555003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56887	32555003	18749563	20238	22384											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400237.1_Silent_p.A377A|RFPL2_ENST00000248983.4_Silent_p.A287A|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248980.4_Silent_p.A316A	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													95	507					6.00224e-42	7.30009e-42	1	1	0	T	32586765	G	T	32586765	2	4	22	1	0	0	0	0	0	0	0	1	13306	1335	47	2		2	RFPL2	22	32586765	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31762	32586765	18717801	20239	22385											
RFPL3	10738	broad.mit.edu	37	chr22	32754256	32754256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcaagtgcatcaattcGctgcagaaggagccccatgg	11	12	2	1	rs61729170	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32754256G>A	ENST00000249007.4	+	1	403	c.198G>A	c.(196-198)tcG>tcA	p.S66S	RFPL3_ENST00000382088.3_Silent_p.S37S|RFPL3_ENST00000397468.1_Silent_p.S37S	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	66							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GCATCAATTCGCTGCAGAAGG	0.537													100	406					0	0	1	0	0	A	32754256	G	A	32754256	2	1	22	1	0	0	0	0	0	0	0	1	13307	1074	38	1		1	RFPL3	22	32754256	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	167491	32754256	18550310	20240	22386											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													172	752					0	0	1	0	0	C	32875113	T	C	32875113	3	2	22	1	0	0	0	0	1	0	0	0	5793	1435	50	3	315	3	FBXO7	22	32875113	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	120857	32875113	18429453	20241	22387	152	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													195	684					5.43764e-100	6.99375e-100	1	1	0	T	32875119	G	T	32875119	3	4	22	1	0	0	0	0	1	0	0	0	5793	956	33	2	321	2	FBXO7	22	32875119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6	32875119	18429447	20242	22388	152	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	442					0	0	1	0	0	C	32894330	T	C	32894330	3	2	22	1	0	0	0	0	1	0	0	0	5793	1435	50	3	1457	3	FBXO7	22	32894330	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19211	32894330	18410236	20243	22389											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	177					0	0	1	0	0	A	32992713	G	A	32992713	3	1	22	1	0	0	0	0	1	0	0	0	15499	1232	43	2	1053	2	SYN3	22	32992713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98383	32992713	18311853	20244	22390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_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													68	374					0	0	1	0	0	T	33255181	C	T	33255181	2	4	22	1	0	0	0	0	0	0	0	1	15979	576	20	2		2	TIMP3	22	33255181	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262468	33255181	18049385	20245	22391											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	152					1.39806e-14	1.52044e-14	1	1	0	T	33265005	G	T	33265005	3	4	22	1	0	0	0	0	1	0	0	0	15499	1000	35	2	1213	2	SYN3	22	33265005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9824	33265005	18039561	20246	22392											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	579					0	0	1	0	0	T	33402568	C	T	33402568	3	4	22	1	0	0	0	0	1	0	0	0	15499	768	27	1	1714	1	SYN3	22	33402568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137563	33402568	17901998	20247	22393											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000337431.2_Silent_p.T243T|LARGE_ENST00000452586.2_Silent_p.T42T|LARGE_ENST00000397394.2_Silent_p.T243T|LARGE_ENST00000402320.1_Silent_p.T243T|LARGE_ENST00000437602.2_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													76	341					0	0	1	0	0	T	33960892	C	T	33960892	2	4	22	1	0	0	0	0	0	0	0	1	8666	639	23	1		1	LARGE	22	33960892	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	558324	33960892	17343674	20248	22394											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	327					0	0	1	0	0	T	35478605	C	T	35478605	2	4	22	1	0	0	0	0	0	0	0	1	7909	535	19	1		1	ISX	22	35478605	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1517713	35478605	15825961	20249	22395											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	292					0	0	1	0	0	T	35680005	C	T	35680005	2	4	22	1	0	0	0	0	0	0	0	1	7280	755	27	1		1	HMGXB4	22	35680005	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	201400	35680005	15624561	20250	22396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													135	501					0	0	1	0	0	A	35808506	G	A	35808506	3	1	22	1	0	0	0	0	1	0	0	0	9440	1087	38	1	949	1	MCM5	22	35808506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128501	35808506	15496060	20251	22397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	349					0	0	1	0	0	T	35947670	C	T	35947670	3	4	22	1	0	0	0	0	1	0	0	0	13119	768	27	1	398	1	RASD2	22	35947670	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139164	35947670	15356896	20252	22398											
APOL5	80831	broad.mit.edu	37	chr22	36124810	36124810	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctgttgtggagcaccaGcctaggctgggccctggcgt	16	12	0	0	rs142361344	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36124810G>A	ENST00000249044.2	+	4	1167	c.1167G>A	c.(1165-1167)caG>caA	p.Q389Q		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	389					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						TGGAGCACCAGCCTAGGCTGG	0.602													67	380					0	0	1	0	0	A	36124810	G	A	36124810	2	1	22	1	0	0	0	0	0	0	0	1	806	962	34	2		2	APOL5	22	36124810	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177140	36124810	15179756	20253	22399											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361710.2_Missense_Mutation_p.R138W|APOL3_ENST00000397293.2_Missense_Mutation_p.R267W|APOL3_ENST00000397287.2_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													62	294					0	0	1	0	0	A	36537445	G	A	36537445	3	1	22	1	0	0	0	0	1	0	0	0	804	1115	39	1	200	1	APOL3	22	36537445	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	412635	36537445	14767121	20254	22400											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	436					1.13884e-41	1.38436e-41	1	1	0	T	36623483	G	T	36623483	2	4	22	1	0	0	0	0	0	0	0	1	803	1164	41	2		2	APOL2	22	36623483	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86038	36623483	14681083	20255	22401											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	259					2.31682e-05	2.36778e-05	1	1	0	T	36624001	G	T	36624001	3	4	22	1	0	0	0	0	1	0	0	0	803	933	33	2	554	2	APOL2	22	36624001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	518	36624001	14680565	20256	22402											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397278.3_Missense_Mutation_p.E2D|APOL1_ENST00000397279.4_Missense_Mutation_p.E2D|APOL1_ENST00000426053.1_Missense_Mutation_p.E2D|APOL1_ENST00000422706.1_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													41	298					1.7489e-18	1.94175e-18	1	1	0	T	36651007	G	T	36651007	3	4	22	1	0	0	0	0	1	0	0	0	802	991	35	2	60	2	APOL1	22	36651007	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27006	36651007	14653559	20257	22403											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397278.3_Missense_Mutation_p.A114D|APOL1_ENST00000397279.4_Missense_Mutation_p.A114D|APOL1_ENST00000426053.1_Missense_Mutation_p.A96D|APOL1_ENST00000422706.1_Missense_Mutation_p.A114D|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													68	314					7.33394e-39	8.85091e-39	1	1	0	A	36661223	C	A	36661223	3	1	22	1	0	0	0	0	1	0	0	0	802	797	28	2	411	2	APOL1	22	36661223	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10216	36661223	14643343	20258	22404											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				9	244					0	0	1	0	0	A	36691608	G	A	36691608	3	1	22	1	0	0	0	0	1	0	0	0	10090	971	34	2	2518	2	MYH9	22	36691608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30385	36691608	14612958	20259	22405											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				21	221					0	0	1	0	0	G	36705431	T	G	36705431	3	3	22	1	0	0	0	0	1	0	0	0	10090	1841	64	3	4251	3	MYH9	22	36705431	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13823	36705431	14599135	20260	22406											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405442.1_Silent_p.A357A|EIF3D_ENST00000541106.1_Silent_p.A308A	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													157	696					0	0	1	0	0	T	36912757	C	T	36912757	2	4	22	1	0	0	0	0	0	0	0	1	5042	523	19	1		1	EIF3D	22	36912757	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207326	36912757	14391809	20261	22407											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	209					0	0	1	0	0	T	37331398	C	T	37331398	3	4	22	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	20262	22408											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	340					0	0	1	0	0	C	37334204	T	C	37334204	3	2	22	1	0	0	0	0	1	0	0	0	3960	1667	58	3	2404	3	CSF2RB	22	37334204	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2806	37334204	13970362	20263	22409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346753.3_Missense_Mutation_p.S717I|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.S708I|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.S730I			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													39	187					6.2361e-21	7.00342e-21	1	1	0	A	37462993	C	A	37462993	3	1	22	1	0	0	0	0	1	0	0	0	16311	797	28	2	293	2	TMPRSS6	22	37462993	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128789	37462993	13841573	20264	22410											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346753.3_Missense_Mutation_p.A68V|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A59V|TMPRSS6_ENST00000442782.2_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													81	297					0	0	1	0	0	A	37499282	G	A	37499282	3	1	22	1	0	0	0	0	1	0	0	0	16311	1087	38	1	2300	1	TMPRSS6	22	37499282	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36289	37499282	13805284	20265	22411											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	283					0	0	1	0	0	T	37524621	C	T	37524621	3	4	22	1	0	0	0	0	1	0	0	0	7731	913	32	2	488	2	IL2RB	22	37524621	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25339	37524621	13779945	20266	22412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	523					0	0	1	0	0	A	37531435	G	A	37531435	3	1	22	1	0	0	0	0	1	0	0	0	7731	1000	35	2	916	2	IL2RB	22	37531435	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6814	37531435	13773131	20267	22413											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397110.2_Silent_p.S269S|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000255836.6_Silent_p.S145S	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													44	162					0	0	1	0	0	A	37578258	G	A	37578258	2	1	22	1	0	0	0	0	0	0	0	1	1980	1078	38	1		1	C1QTNF6	22	37578258	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46823	37578258	13726308	20268	22414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397110.2_Missense_Mutation_p.Y258H|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000255836.6_Missense_Mutation_p.Y134H	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													46	194					0	0	1	0	0	G	37578293	A	G	37578293	3	3	22	1	0	0	0	0	1	0	0	0	1980	420	15	3	68	3	C1QTNF6	22	37578293	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35	37578293	13726273	20269	22415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	508					0	0	1	0	0	A	37603573	G	A	37603573	2	1	22	1	0	0	0	0	0	0	0	1	15255	1136	40	1		1	SSTR3	22	37603573	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25280	37603573	13700993	20270	22416											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405484.1_Missense_Mutation_p.G23R|RAC2_ENST00000406508.1_5'UTR|RAC2_ENST00000401529.3_Missense_Mutation_p.G30R	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													100	421					0	0	1	0	0	T	37637646	C	T	37637646	3	4	22	1	0	0	0	0	1	0	0	0	13027	661	23	1	510	1	RAC2	22	37637646	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34073	37637646	13666920	20271	22417											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37769443C>T	ENST00000402918.1	-	3	2917	c.2132G>A	c.(2131-2133)aGc>aAc	p.S711N	ELFN2_ENST00000349653.3_Missense_Mutation_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	711						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													14	73					0	0	1	0	0	T	37769443	C	T	37769443	3	4	22	1	0	0	0	0	1	0	0	0	5086	797	28	2	334	2	ELFN2	22	37769443	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131797	37769443	13535123	20272	22418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37769658G>A	ENST00000402918.1	-	3	2702	c.1917C>T	c.(1915-1917)agC>agT	p.S639S	ELFN2_ENST00000349653.3_Silent_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	639						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													28	109					0	0	1	0	0	A	37769658	G	A	37769658	2	1	22	1	0	0	0	0	0	0	0	1	5086	1078	38	1		1	ELFN2	22	37769658	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215	37769658	13534908	20273	22419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37771157C>T	ENST00000402918.1	-	3	1203	c.418G>A	c.(418-420)Gag>Aag	p.E140K	ELFN2_ENST00000349653.3_Missense_Mutation_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	140						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													117	480					0	0	1	0	0	T	37771157	C	T	37771157	3	4	22	1	0	0	0	0	1	0	0	0	5086	893	31	1	2048	1	ELFN2	22	37771157	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1499	37771157	13533409	20274	22420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000406271.3_Missense_Mutation_p.S399L|CARD10_ENST00000251973.5_Missense_Mutation_p.S685L			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													52	213					0	0	1	0	0	A	37892461	G	A	37892461	3	1	22	1	0	0	0	0	1	0	0	0	2662	1059	37	1	1076	1	CARD10	22	37892461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121304	37892461	13412105	20275	22421											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	206					0	0	1	0	0	A	37962510	G	A	37962510	3	1	22	1	0	0	0	0	1	0	0	0	3097	1232	43	2	156	2	CDC42EP1	22	37962510	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70049	37962510	13342056	20276	22422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381756.5_Missense_Mutation_p.E226D|GGA1_ENST00000325180.8_Missense_Mutation_p.E209D|GGA1_ENST00000343632.4_Missense_Mutation_p.E209D|GGA1_ENST00000337437.4_Missense_Mutation_p.E176D	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)	177	980					1.73106e-74	2.20561e-74	1	1	0	T	38019351	G	T	38019351	3	4	22	1	0	0	0	0	1	0	0	0	6394	933	33	2	723	2	GGA1	22	38019351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56841	38019351	13285215	20277	22423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000442465.2_Missense_Mutation_p.E114K|SH3BP1_ENST00000357436.4_Missense_Mutation_p.E114K|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)	63	336					0	0	1	0	0	A	38038957	G	A	38038957	3	1	22	1	0	0	0	0	1	0	0	0	14298	1059	37	1	358	1	SH3BP1	22	38038957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19606	38038957	13265609	20278	22424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Silent_p.L364L|SH3BP1_ENST00000357436.4_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													23	681					0	0	1	0	0	T	38043329	C	T	38043329	2	4	22	1	0	0	0	0	0	0	0	1	14298	900	32	2		2	SH3BP1	22	38043329	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4372	38043329	13261237	20279	22425											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Missense_Mutation_p.R390H|SH3BP1_ENST00000357436.4_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													34	153					0	0	1	0	0	A	38043498	G	A	38043498	3	1	22	1	0	0	0	0	1	0	0	0	14298	1087	38	1	1219	1	SH3BP1	22	38043498	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169	38043498	13261068	20280	22426											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP1-37E16.12_ENST00000455236.1_RNA	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													113	875					0	0	1	0	0	G	38120147	A	G	38120147	2	3	22	1	0	0	0	0	0	0	0	1	16614	204	8	3		3	TRIOBP	22	38120147	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	76649	38120147	13184419	20281	22427											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP1-37E16.12_ENST00000455236.1_RNA	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													53	288					0	0	1	0	0	T	38165063	C	T	38165063	2	4	22	1	0	0	0	0	0	0	0	1	16614	796	28	2		2	TRIOBP	22	38165063	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44916	38165063	13139503	20282	22428											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	346					0	0	1	0	0	T	38208974	C	T	38208974	2	4	22	1	0	0	0	0	0	0	0	1	6324	535	19	1		1	GCAT	22	38208974	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43911	38208974	13095592	20283	22429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000411961.2_Silent_p.R251R|ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000406423.1_Silent_p.R147R	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	267										lung(1)	1	Melanoma(58;0.045)					TCATCTGCAGGCGGGTGCAGA	0.617													9	373					0	0	1	0	0	A	38228671	G	A	38228671	2	1	22	1	0	0	0	0	0	0	0	1	674	1190	42	2		2	ANKRD54	22	38228671	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19697	38228671	13075895	20284	22430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	339					0	0	1	0	0	A	38273869	G	A	38273869	2	1	22	1	0	0	0	0	0	0	0	1	5050	1074	38	1		1	EIF3L	22	38273869	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45198	38273869	13030697	20285	22431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	318					0	0	1	0	0	A	38308394	G	A	38308394	3	1	22	1	0	0	0	0	1	0	0	0	9621	1087	38	1	242	1	MICALL1	22	38308394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34525	38308394	12996172	20286	22432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	332					1.32003e-40	1.60129e-40	1	1	0	A	38308422	C	A	38308422	3	1	22	1	0	0	0	0	1	0	0	0	9621	855	30	2	270	2	MICALL1	22	38308422	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28	38308422	12996144	20287	22433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	380					2.29192e-23	2.60423e-23	1	1	0	T	38308468	G	T	38308468	3	4	22	1	0	0	0	0	1	0	0	0	9621	1020	36	2	316	2	MICALL1	22	38308468	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46	38308468	12996098	20288	22434											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													163	709					0	0	1	0	0	A	38323737	G	A	38323737	2	1	22	1	0	0	0	0	0	0	0	1	9621	962	34	2		2	MICALL1	22	38323737	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15269	38323737	12980829	20289	22435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	55	228					0	0	1	0	0	T	38470346	C	T	38470346	2	4	22	1	0	0	0	0	0	0	0	1	11929	639	23	1		1	PICK1	22	38470346	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146609	38470346	12834220	20290	22436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	228					0	0	1	0	0	T	38505149	C	T	38505149	3	4	22	1	0	0	0	0	1	0	0	0	1301	710	25	2	1523	2	BAIAP2L2	22	38505149	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34803	38505149	12799417	20291	22437											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000335539.3_Missense_Mutation_p.R566M|PLA2G6_ENST00000402064.1_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													53	238					9.72345e-25	1.11288e-24	1	1	0	A	38512102	C	A	38512102	3	1	22	1	0	0	0	0	1	0	0	0	12056	681	24	2	581	2	PLA2G6	22	38512102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6953	38512102	12792464	20292	22438											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000335539.3_Missense_Mutation_p.E508G|PLA2G6_ENST00000402064.1_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													104	597					0	0	1	0	0	C	38516823	T	C	38516823	3	2	22	1	0	0	0	0	1	0	0	0	12056	1551	54	3	759	3	PLA2G6	22	38516823	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4721	38516823	12787743	20293	22439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000335539.3_Missense_Mutation_p.K295N|PLA2G6_ENST00000402064.1_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													37	163					1.04594e-18	1.16214e-18	1	1	0	A	38531004	C	A	38531004	3	1	22	1	0	0	0	0	1	0	0	0	12056	912	32	2	1583	2	PLA2G6	22	38531004	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14181	38531004	12773562	20294	22440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000335539.3_Missense_Mutation_p.Q278H|PLA2G6_ENST00000402064.1_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													7	221					0.000157383	0.000159814	1	1	0	A	38531055	C	A	38531055	3	1	22	1	0	0	0	0	1	0	0	0	12056	912	32	2	1634	2	PLA2G6	22	38531055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51	38531055	12773511	20295	22441											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000426621.2_Missense_Mutation_p.S33P|MAFF_ENST00000538999.1_Missense_Mutation_p.S4P|MAFF_ENST00000407965.1_Missense_Mutation_p.S33P|MAFF_ENST00000538320.1_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													19	165					0	0	1	0	0	C	38610487	T	C	38610487	3	2	22	1	0	0	0	0	1	0	0	0	9205	1667	58	3	103	3	MAFF	22	38610487	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	79432	38610487	12694079	20296	22442											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000426621.2_Missense_Mutation_p.R57H|MAFF_ENST00000538999.1_Missense_Mutation_p.R28H|MAFF_ENST00000407965.1_Missense_Mutation_p.R57H|MAFF_ENST00000538320.1_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													21	77					0	0	1	0	0	A	38610560	G	A	38610560	3	1	22	1	0	0	0	0	1	0	0	0	9205	1087	38	1	176	1	MAFF	22	38610560	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73	38610560	12694006	20297	22443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	146					0	0	1	0	0	T	38643832	C	T	38643832	3	4	22	1	0	0	0	0	1	0	0	0	16165	768	27	1	1119	1	TMEM184B	22	38643832	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33272	38643832	12660734	20298	22444											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	247					0	0	1	0	0	T	38823648	C	T	38823648	3	4	22	1	0	0	0	0	1	0	0	0	8097	884	31	1	851	1	KCNJ4	22	38823648	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179816	38823648	12480918	20299	22445											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	217					1.07234e-20	1.20343e-20	1	1	0	A	38823876	C	A	38823876	4	1	22	1	0	0	0	0	0	1	0	0	8097	864	30	2	1079	2	KCNJ4	22	38823876	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	228	38823876	12480690	20300	22446											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	338					3.3814e-41	4.10641e-41	1	1	0	T	38877488	G	T	38877488	3	4	22	1	0	0	0	0	1	0	0	0	8165	971	34	2	637	2	KDELR3	22	38877488	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53612	38877488	12427078	20301	22447											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					62	298					0	0	1	0	0	A	38933650	G	A	38933650	2	1	22	1	0	0	0	0	0	0	0	1	4607	1136	40	1		1	DMC1	22	38933650	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56162	38933650	12370916	20302	22448											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	447					6.87118e-46	8.4335e-46	1	1	0	A	39067160	C	A	39067160	2	1	22	1	0	0	0	0	0	0	0	1	2743	900	32	2		2	CBY1	22	39067160	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133510	39067160	12237406	20303	22449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000411587.2_Silent_p.R461R|SUN2_ENST00000216064.4_Silent_p.R472R|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000405018.1_Silent_p.R493R|SUN2_ENST00000406622.1_Silent_p.R472R	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													148	738					0	0	1	0	0	A	39135889	G	A	39135889	2	1	22	1	0	0	0	0	0	0	0	1	15448	1074	38	1		1	SUN2	22	39135889	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68729	39135889	12168677	20304	22450											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000411587.2_Silent_p.S256S|SUN2_ENST00000216064.4_Silent_p.S267S|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000405018.1_Silent_p.S288S|SUN2_ENST00000406622.1_Silent_p.S267S	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													8	250					0	0	1	0	0	T	39141701	C	T	39141701	2	4	22	1	0	0	0	0	0	0	0	1	15448	755	27	1		1	SUN2	22	39141701	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5812	39141701	12162865	20305	22451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000411587.2_Missense_Mutation_p.R245K|SUN2_ENST00000216064.4_Missense_Mutation_p.R256K|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000405018.1_Missense_Mutation_p.R277K|SUN2_ENST00000406622.1_Missense_Mutation_p.R256K	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													6	203					0	0	1	0	0	T	39141735	C	T	39141735	3	4	22	1	0	0	0	0	1	0	0	0	15448	681	24	2	1430	2	SUN2	22	39141735	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34	39141735	12162831	20306	22452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	167					1.15183e-24	1.31825e-24	1	1	0	T	39176946	G	T	39176946	3	4	22	1	0	0	0	0	1	0	0	0	4685	933	33	2	187	2	DNAL4	22	39176946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35211	39176946	12127620	20307	22453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407298.3_Missense_Mutation_p.R269C|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.R294C			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													22	1045					0	0	1	0	0	T	39387493	C	T	39387493	3	4	22	1	0	0	0	0	1	0	0	0	787	768	27	1	902	1	APOBEC3B	22	39387493	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	210547	39387493	11917073	20308	22454											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39418964C>T	ENST00000216099.7	+	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	52					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													75	350					0	0	1	0	0	T	39418964	C	T	39418964	3	4	22	1	0	0	0	0	1	0	0	0	789	478	17	2	161	2	APOBEC3D	22	39418964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31471	39418964	11885602	20309	22455											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													148	738					0	0	1	0	0	A	39482486	G	A	39482486	3	1	22	1	0	0	0	0	1	0	0	0	791	1087	38	1	960	1	APOBEC3G	22	39482486	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63522	39482486	11822080	20310	22456											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								14	297					0	0	1	0	0	A	39629477	G	A	39629477	2	1	22	1	0	0	0	0	0	0	0	1	11705	1074	38	1		1	PDGFB	22	39629477	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146991	39629477	11675089	20311	22457											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000216155.7_Silent_p.I109I|SYNGR1_ENST00000318801.4_Silent_p.I109I|SYNGR1_ENST00000381535.4_Silent_p.I110I|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													56	270					0	0	1	0	0	T	39770548	C	T	39770548	2	4	22	1	0	0	0	0	0	0	0	1	15505	874	31	1		1	SYNGR1	22	39770548	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141071	39770548	11534018	20312	22458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													77	320					2.26256e-52	2.81376e-52	1	1	0	T	39777719	G	T	39777719	3	4	22	1	0	0	0	0	1	0	0	0	15505	1203	42	2	719	2	SYNGR1	22	39777719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7171	39777719	11526847	20313	22459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													129	521					0	0	1	0	0	T	39822803	C	T	39822803	2	4	22	1	0	0	0	0	0	0	0	1	15552	767	27	1		1	TAB1	22	39822803	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45084	39822803	11481763	20314	22460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	342					0	0	1	0	0	A	39883623	G	A	39883623	3	1	22	1	0	0	0	0	1	0	0	0	9594	1059	37	1	273	1	MGAT3	22	39883623	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60820	39883623	11420943	20315	22461											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000401624.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000402142.3_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000404898.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000400164.3_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000407673.1_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													89	505					0	0	1	0	0	T	39966944	C	T	39966944	4	4	22	1	0	0	0	0	0	1	0	0	2564	760	27	1	189	1	CACNA1I	22	39966944	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83321	39966944	11337622	20316	22462											
CACNA1I	8911	broad.mit.edu	37	chr22	40036947	40036947	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttcatctgctccctgtcGggcgacaatgggataatggg	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40036947G>A	ENST00000336649.4	+	8	816	c.816G>A	c.(814-816)tcG>tcA	p.S272S	CACNA1I_ENST00000401624.1_Silent_p.S272S|CACNA1I_ENST00000402142.3_Silent_p.S272S|CACNA1I_ENST00000404898.1_Silent_p.S272S|CACNA1I_ENST00000400164.3_Silent_p.S272S|CACNA1I_ENST00000407673.1_Silent_p.S272S			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	272					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)	GCTCCCTGTCGGGCGACAATG	0.612													16	155					0	0	1	0	0	A	40036947	G	A	40036947	2	1	22	1	0	0	0	0	0	0	0	1	2564	1103	39	1		1	CACNA1I	22	40036947	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70003	40036947	11267619	20317	22463											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000401624.1_Missense_Mutation_p.R1237H|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R1237H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1202H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1202H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1202H			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													17	130					0	0	1	0	0	A	40060787	G	A	40060787	3	1	22	1	0	0	0	0	1	0	0	0	2564	1087	38	1	3792	1	CACNA1I	22	40060787	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23840	40060787	11243779	20318	22464	153	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000401624.1_Missense_Mutation_p.S1239I|CACNA1I_ENST00000402142.3_Missense_Mutation_p.S1239I|CACNA1I_ENST00000404898.1_Missense_Mutation_p.S1204I|CACNA1I_ENST00000400164.3_Missense_Mutation_p.S1204I|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S1204I			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													19	147					6.94344e-10	7.33246e-10	1	1	0	T	40060793	G	T	40060793	3	4	22	1	0	0	0	0	1	0	0	0	2564	971	34	2	3798	2	CACNA1I	22	40060793	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6	40060793	11243773	20319	22465	153	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000401624.1_Missense_Mutation_p.G1263R|CACNA1I_ENST00000402142.3_Missense_Mutation_p.G1263R|CACNA1I_ENST00000404898.1_Missense_Mutation_p.G1228R|CACNA1I_ENST00000400164.3_Missense_Mutation_p.G1228R|CACNA1I_ENST00000407673.1_Missense_Mutation_p.G1228R			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													26	279					0	0	1	0	0	A	40060864	G	A	40060864	3	1	22	1	0	0	0	0	1	0	0	0	2564	1116	39	1	3869	1	CACNA1I	22	40060864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71	40060864	11243702	20320	22466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540310.1_Missense_Mutation_p.R246H|GRAP2_ENST00000544756.1_Missense_Mutation_p.R240H|GRAP2_ENST00000543252.1_Missense_Mutation_p.R260H|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													66	302					0	0	1	0	0	A	40367030	G	A	40367030	3	1	22	1	0	0	0	0	1	0	0	0	6795	1087	38	1	961	1	GRAP2	22	40367030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	306166	40367030	10937536	20321	22467											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540310.1_Missense_Mutation_p.R264Q|GRAP2_ENST00000544756.1_Missense_Mutation_p.R258Q|GRAP2_ENST00000543252.1_Missense_Mutation_p.R278Q|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													9	345					0	0	1	0	0	A	40367084	G	A	40367084	3	1	22	1	0	0	0	0	1	0	0	0	6795	1058	37	1	1015	1	GRAP2	22	40367084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54	40367084	10937482	20322	22468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40417900C>T	ENST00000333407.5	+	4	1480	c.1386C>T	c.(1384-1386)acC>acT	p.T462T	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	462										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CTGTCTCCACCGAGACCTCTG	0.657													55	321					0	0	1	0	0	T	40417900	C	T	40417900	2	4	22	1	0	0	0	0	0	0	0	1	5670	639	23	1		1	FAM83F	22	40417900	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50816	40417900	10886666	20323	22469											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.A353V	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													14	335					0	0	1	0	0	T	40661292	C	T	40661292	3	4	22	1	0	0	0	0	1	0	0	0	16401	768	27	1	1197	1	TNRC6B	22	40661292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	243392	40661292	10643274	20324	22470											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	176					0	0	1	0	0	T	40749110	C	T	40749110	3	4	22	1	0	0	0	0	1	0	0	0	345	797	28	2	401	2	ADSL	22	40749110	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87818	40749110	10555456	20325	22471											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000454266.2_Missense_Mutation_p.G211R|ADSL_ENST00000480775.1_3'UTR|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													7	317					0	0	1	0	0	A	40754974	G	A	40754974	3	1	22	1	0	0	0	0	1	0	0	0	345	1233	43	2	607	2	ADSL	22	40754974	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5864	40754974	10549592	20326	22472											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	231					7.89702e-26	9.07718e-26	1	1	0	T	40803436	G	T	40803436	3	4	22	1	0	0	0	0	1	0	0	0	14278	971	34	2	1434	2	SGSM3	22	40803436	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48462	40803436	10501130	20327	22473											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355630.3_Silent_p.T538T|MKL1_ENST00000407029.1_Silent_p.T538T|MKL1_ENST00000402042.1_Silent_p.T488T			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								42	178					0	0	1	0	0	T	40814828	C	T	40814828	2	4	22	1	0	0	0	0	0	0	0	1	9649	755	27	1		1	MKL1	22	40814828	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11392	40814828	10489738	20328	22474											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355630.3_Silent_p.K237K|MKL1_ENST00000407029.1_Silent_p.K237K|MKL1_ENST00000402042.1_Silent_p.K187K			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								71	316					0	0	1	0	0	T	40817021	C	T	40817021	2	4	22	1	0	0	0	0	0	0	0	1	9649	564	20	2		2	MKL1	22	40817021	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2193	40817021	10487545	20329	22475											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381433.2_Missense_Mutation_p.T102M|MCHR1_ENST00000498400.1_3'UTR	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													53	279					0	0	1	0	0	T	41076968	C	T	41076968	3	4	22	1	0	0	0	0	1	0	0	0	9432	536	19	1	311	1	MCHR1	22	41076968	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	259947	41076968	10227598	20330	22476											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381433.2_Silent_p.T129T|MCHR1_ENST00000498400.1_3'UTR	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													71	339					0	0	1	0	0	A	41077050	G	A	41077050	2	1	22	1	0	0	0	0	0	0	0	1	9432	1103	39	1		1	MCHR1	22	41077050	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82	41077050	10227516	20331	22477											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491545.1_5'UTR|SLC25A17_ENST00000544408.1_Missense_Mutation_p.L238M|SLC25A17_ENST00000542412.1_Missense_Mutation_p.L202M			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													182	915					1.95521e-66	2.4743e-66	1	1	0	T	41166939	G	T	41166939	3	4	22	1	0	0	0	0	1	0	0	0	14534	962	34	2	104	2	SLC25A17	22	41166939	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89889	41166939	10137627	20332	22478											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	500					0	0	1	0	0	C	41252472	T	C	41252472	3	2	22	1	0	0	0	0	1	0	0	0	15266	1696	59	3	1084	3	ST13	22	41252472	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	85533	41252472	10052094	20333	22479											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_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													113	480					0	0	1	0	0	T	41257476	C	T	41257476	3	4	22	1	0	0	0	0	1	0	0	0	4652	739	26	2	410	2	DNAJB7	22	41257476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5004	41257476	10047090	20334	22480											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000414396.1_Silent_p.R254R|XPNPEP3_ENST00000541156.1_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													76	337					0	0	1	0	0	C	41282489	A	C	41282489	2	2	22	1	0	0	0	0	0	0	0	1	17504	233	9	3		3	XPNPEP3	22	41282489	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25013	41282489	10022077	20335	22481	154	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000414396.1_Missense_Mutation_p.I257V|XPNPEP3_ENST00000541156.1_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													82	299					0	0	1	0	0	G	41282496	A	G	41282496	3	3	22	1	0	0	0	0	1	0	0	0	17504	333	12	3	783	3	XPNPEP3	22	41282496	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7	41282496	10022070	20336	22482	154	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				109	342					0	0	1	0	0	T	41513320	C	T	41513320	3	4	22	1	0	0	0	0	1	0	0	0	5176	797	28	2	230	2	EP300	22	41513320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	230824	41513320	9791246	20337	22483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_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				112	444					0	0	1	0	0	T	41572357	C	T	41572357	3	4	22	1	0	0	0	0	1	0	0	0	5176	768	27	1	5004	1	EP300	22	41572357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59037	41572357	9732209	20338	22484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_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				26	387					0	0	1	0	0	T	41574502	C	T	41574502	4	4	22	1	0	0	0	0	0	1	0	0	5176	760	27	1	6909	1	EP300	22	41574502	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2145	41574502	9730064	20339	22485											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	350					0	0	1	0	0	A	41620065	G	A	41620065	2	1	22	1	0	0	0	0	0	0	0	1	8631	1190	42	2		2	L3MBTL2	22	41620065	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45563	41620065	9684501	20340	22486											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	376					1.51188e-25	1.73552e-25	1	1	0	A	41621043	C	A	41621043	3	1	22	1	0	0	0	0	1	0	0	0	8631	912	32	2	1366	2	L3MBTL2	22	41621043	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	978	41621043	9683523	20341	22487											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405486.1_Missense_Mutation_p.V518M|RANGAP1_ENST00000356244.3_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													48	225					0	0	1	0	0	T	41645753	C	T	41645753	3	4	22	1	0	0	0	0	1	0	0	0	13085	536	19	1	223	1	RANGAP1	22	41645753	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24710	41645753	9658813	20342	22488											
RANGAP1	5905	broad.mit.edu	37	chr22	41650402	41650402	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttcttcctcctcctcctcCtcttcttcctcctcttcctc	0	22	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41650402C>A	ENST00000455915.2	-	10	2639	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D	RANGAP1_ENST00000405486.1_Missense_Mutation_p.E390D|RANGAP1_ENST00000356244.3_Missense_Mutation_p.E390D|RANGAP1_ENST00000407260.4_Missense_Mutation_p.E335D			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	390	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	p.E390E(1)		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						cctcctcctcctcttcttcct	0.562													43	250					8.16277e-20	9.1228e-20	1	1	0	A	41650402	C	A	41650402	3	1	22	1	0	0	0	0	1	0	0	0	13085	680	24	2	617	2	RANGAP1	22	41650402	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4649	41650402	9654164	20343	22489											
RANGAP1	5905	broad.mit.edu	37	chr22	41650462	41650462	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttcctcttcttcctcTtctccttcctcctcctcctc	1	21	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41650462T>C	ENST00000455915.2	-	10	2579	c.1110A>G	c.(1108-1110)gaA>gaG	p.E370E	RANGAP1_ENST00000405486.1_Silent_p.E370E|RANGAP1_ENST00000356244.3_Silent_p.E370E|RANGAP1_ENST00000407260.4_Silent_p.E315E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	370	Asp/Glu-rich (highly acidic).				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						cttcttcctcttctccttcct	0.567													105	454					0	0	1	0	0	C	41650462	T	C	41650462	2	2	22	1	0	0	0	0	0	0	0	1	13085	1606	56	3		3	RANGAP1	22	41650462	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	60	41650462	9654104	20344	22490											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	437					6.78028e-52	8.425e-52	1	1	0	T	41723231	G	T	41723231	4	4	22	1	0	0	0	0	0	1	0	0	17632	1175	41	2	321	2	ZC3H7B	22	41723231	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72769	41723231	9581335	20345	22491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	456					6.07207e-39	7.33261e-39	1	1	0	T	41742154	G	T	41742154	3	4	22	1	0	0	0	0	1	0	0	0	17632	971	34	2	1657	2	ZC3H7B	22	41742154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18923	41742154	9562412	20346	22492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	118					0	0	1	0	0	A	41747608	G	A	41747608	4	1	22	1	0	0	0	0	0	1	0	0	17632	1212	42	2	2054	2	ZC3H7B	22	41747608	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5454	41747608	9556958	20347	22493											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													143	611					0	0	1	0	0	A	41753416	G	A	41753416	3	1	22	1	0	0	0	0	1	0	0	0	17632	1087	38	1	3003	1	ZC3H7B	22	41753416	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5808	41753416	9551150	20348	22494											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													84	491					0	0	1	0	0	T	41790200	C	T	41790200	2	4	22	1	0	0	0	0	0	0	0	1	15809	900	32	2		2	TEF	22	41790200	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36784	41790200	9514366	20349	22495											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405878.1_Missense_Mutation_p.D219Y|XRCC6_ENST00000360079.3_Missense_Mutation_p.D219Y|XRCC6_ENST00000428575.2_Missense_Mutation_p.D86Y|XRCC6_ENST00000402580.3_Missense_Mutation_p.D178Y			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					15	99					2.32078e-09	2.442e-09	1	1	0	T	42033677	G	T	42033677	3	4	22	1	0	0	0	0	1	0	0	0	17517	942	33	2	673	2	XRCC6	22	42033677	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	243477	42033677	9270889	20350	22496											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540833.1_5'UTR|MEI1_ENST00000300398.4_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													12	186					0	0	1	0	0	T	42095601	C	T	42095601	3	4	22	1	0	0	0	0	1	0	0	0	9515	768	27	1	61	1	MEI1	22	42095601	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61924	42095601	9208965	20351	22497											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540833.1_Silent_p.L125L|MEI1_ENST00000300398.4_5'UTR|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													27	66					0	0	1	0	0	A	42128307	G	A	42128307	2	1	22	1	0	0	0	0	0	0	0	1	9515	1306	46	2		2	MEI1	22	42128307	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32706	42128307	9176259	20352	22498											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540833.1_Missense_Mutation_p.D155Y|MEI1_ENST00000300398.4_5'UTR|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													42	216					8.20599e-20	9.16906e-20	1	1	0	T	42128519	G	T	42128519	3	4	22	1	0	0	0	0	1	0	0	0	9515	942	33	2	1285	2	MEI1	22	42128519	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	212	42128519	9176047	20353	22499											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540833.1_Silent_p.Q431Q|MEI1_ENST00000300398.4_5'UTR|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													21	118					0	0	1	0	0	A	42154490	G	A	42154490	2	1	22	1	0	0	0	0	0	0	0	1	9515	1020	36	2		2	MEI1	22	42154490	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25971	42154490	9150076	20354	22500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	247					0	0	1	0	0	A	42209411	G	A	42209411	3	1	22	1	0	0	0	0	1	0	0	0	2786	1145	40	1	468	1	CCDC134	22	42209411	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54921	42209411	9095155	20355	22501											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													177	719					0	0	1	0	0	A	42266957	G	A	42266957	3	1	22	1	0	0	0	0	1	0	0	0	15198	1203	42	2	799	2	SREBF2	22	42266957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57546	42266957	9037609	20356	22502											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	338					4.22769e-11	4.50498e-11	1	1	0	T	42321490	G	T	42321490	3	4	22	1	0	0	0	0	1	0	0	0	16348	1203	42	2	122	2	TNFRSF13C	22	42321490	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54533	42321490	8983076	20357	22503											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													130	584					2.83116e-54	3.53397e-54	1	1	0	T	42416055	G	T	42416055	3	4	22	1	0	0	0	0	1	0	0	0	17320	942	33	2	375	2	WBP2NL	22	42416055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94565	42416055	8888511	20358	22504											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	892					1.5739e-10	1.67034e-10	1	1	0	A	42422788	C	A	42422788	3	1	22	1	0	0	0	0	1	0	0	0	17320	594	21	2	555	2	WBP2NL	22	42422788	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6733	42422788	8881778	20359	22505											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|SMDT1_ENST00000547929.1_Intron	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													123	505					7.48799e-53	9.32186e-53	1	1	0	A	42482233	C	A	42482233	3	1	22	1	0	0	0	0	1	0	0	0	10316	681	24	2	49	2	NDUFA6	22	42482233	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59445	42482233	8822333	20360	22506											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389970.3_Missense_Mutation_p.A90V|CYP2D6_ENST00000359033.4_Missense_Mutation_p.A90V|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA	NM_000106.5	NP_000097.3	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													36	193					0	0	1	0	0	A	42525823	G	A	42525823	3	1	22	1	0	0	0	0	1	0	0	0	4192	1087	38	1	1256	1	CYP2D6	22	42525823	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43590	42525823	8778743	20361	22507											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404876.1_Silent_p.I143I|TCF20_ENST00000335626.4_Silent_p.I1842I	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													34	855					6.50621e-10	6.87419e-10	1	1	0	T	42605786	G	T	42605786	2	4	22	1	0	0	0	0	0	0	0	1	15750	1164	41	2		2	TCF20	22	42605786	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79963	42605786	8698780	20362	22508											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													148	598					0	0	1	0	0	A	42607439	G	A	42607439	2	1	22	1	0	0	0	0	0	0	0	1	15750	1074	38	1		1	TCF20	22	42607439	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1653	42607439	8697127	20363	22509											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	374					0	0	1	0	0	T	42609324	C	T	42609324	3	4	22	1	0	0	0	0	1	0	0	0	15750	797	28	2	3932	2	TCF20	22	42609324	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1885	42609324	8695242	20364	22510											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													260	1071					2.60651e-80	3.33335e-80	1	1	0	A	42609754	C	A	42609754	3	1	22	1	0	0	0	0	1	0	0	0	15750	913	32	2	4362	2	TCF20	22	42609754	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	430	42609754	8694812	20365	22511											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	529					0	0	1	0	0	G	42609955	A	G	42609955	2	3	22	1	0	0	0	0	0	0	0	1	15750	40	2	3		3	TCF20	22	42609955	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	201	42609955	8694611	20366	22512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	274					0	0	1	0	0	A	42611246	G	A	42611246	2	1	22	1	0	0	0	0	0	0	0	1	15750	1136	40	1		1	TCF20	22	42611246	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1291	42611246	8693320	20367	22513											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000407614.4_Silent_p.L56L|SERHL2_ENST00000340239.4_Silent_p.S197S|SERHL2_ENST00000335879.5_Silent_p.L172L	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													49	187					0	0	1	0	0	T	42967184	C	T	42967184	2	4	22	1	0	0	0	0	0	0	0	1	14132	796	28	2		2	SERHL2	22	42967184	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	355938	42967184	8337382	20368	22514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	55					0	0	1	0	0	T	42981253	C	T	42981253	3	4	22	1	0	0	0	0	1	0	0	0	12243	754	26	2		2	POLDIP3	22	42981253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14069	42981253	8323313	20369	22515											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348657.2_Silent_p.L282L|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000451060.2_Silent_p.L155L|POLDIP3_ENST00000491021.1_5'UTR	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													116	616					0	0	1	0	0	A	42988051	G	A	42988051	2	1	22	1	0	0	0	0	0	0	0	1	12243	1020	36	2		2	POLDIP3	22	42988051	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6798	42988051	8316515	20370	22516											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396303.3_5'UTR|CYB5R3_ENST00000407332.1_5'UTR|CYB5R3_ENST00000407623.3_5'UTR|CYB5R3_ENST00000352397.5_Missense_Mutation_p.L13I|CYB5R3_ENST00000402438.1_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													21	142					5.45024e-15	5.94044e-15	1	1	0	T	43032837	G	T	43032837	3	4	22	1	0	0	0	0	1	0	0	0	4151	971	34	2	900	2	CYB5R3	22	43032837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44786	43032837	8271729	20371	22517											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	149					0	0	1	0	0	T	43089256	C	T	43089256	3	4	22	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	20372	22518											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TTLL1_ENST00000266254.7_Missense_Mutation_p.G376S|AL022476.2_ENST00000443063.1_RNA			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													28	741					0	0	1	0	0	T	43442432	C	T	43442432	3	4	22	1	0	0	0	0	1	0	0	0	16784	652	23	1	153	1	TTLL1	22	43442432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	353176	43442432	7862134	20373	22519											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TTLL1_ENST00000266254.7_Silent_p.P331P|AL022476.2_ENST00000443063.1_RNA			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													103	399					0	0	1	0	0	T	43442565	C	T	43442565	2	4	22	1	0	0	0	0	0	0	0	1	16784	523	19	1		1	TTLL1	22	43442565	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133	43442565	7862001	20374	22520											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	393					0	0	1	0	0	T	43459836	C	T	43459836	3	4	22	1	0	0	0	0	1	0	0	0	16784	768	27	1	561	1	TTLL1	22	43459836	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17271	43459836	7844730	20375	22521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43529075G>T	ENST00000290429.5	-	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)	383					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													96	513					9.24773e-40	1.11906e-39	1	1	0	T	43529075	G	T	43529075	3	4	22	1	0	0	0	0	1	0	0	0	9422	991	35	2	29	2	MCAT	22	43529075	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69239	43529075	7775491	20376	22522											
SCUBE1	80274	broad.mit.edu	37	chr22	43614381	43614381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacatagaactgctgccGgccgatggacttgcgcaggg	15	11	0	1	rs150769460	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43614381G>A	ENST00000360835.3	-	15	1897	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	591					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)				AACTGCTGCCGGCCGATGGAC	0.652													148	762					0	0	1	0	0	A	43614381	G	A	43614381	3	1	22	1	0	0	0	0	1	0	0	0	13998	1115	39	1	1227	1	SCUBE1	22	43614381	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85306	43614381	7690185	20377	22523											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43623456G>A	ENST00000360835.3	-	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	377	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													39	151					0	0	1	0	0	A	43623456	G	A	43623456	2	1	22	1	0	0	0	0	0	0	0	1	13998	1079	38	1		1	SCUBE1	22	43623456	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9075	43623456	7681110	20378	22524											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43634902G>A	ENST00000360835.3	-	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	262	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													55	188					0	0	1	0	0	A	43634902	G	A	43634902	2	1	22	1	0	0	0	0	0	0	0	1	13998	1074	38	1		1	SCUBE1	22	43634902	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11446	43634902	7669664	20379	22525											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43687117T>G	ENST00000360835.3	-	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	140	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													33	110					0	0	1	0	0	G	43687117	T	G	43687117	3	3	22	1	0	0	0	0	1	0	0	0	13998	1551	54	3	2623	3	SCUBE1	22	43687117	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	52215	43687117	7617449	20380	22526											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43687179G>A	ENST00000360835.3	-	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	119	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													38	158					0	0	1	0	0	A	43687179	G	A	43687179	2	1	22	1	0	0	0	0	0	0	0	1	13998	1136	40	1		1	SCUBE1	22	43687179	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62	43687179	7617387	20381	22527											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	279					0	0	1	0	0	A	43936061	G	A	43936061	2	1	22	1	0	0	0	0	0	0	0	1	4965	929	33	2		2	EFCAB6	22	43936061	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	248882	43936061	7368505	20382	22528											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	401					0	0	1	0	0	A	43950755	G	A	43950755	2	1	22	1	0	0	0	0	0	0	0	1	4965	1136	40	1		1	EFCAB6	22	43950755	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14694	43950755	7353811	20383	22529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	555					3.04319e-57	3.81129e-57	1	1	0	A	44028018	C	A	44028018	3	1	22	1	0	0	0	0	1	0	0	0	4965	796	28	2	2362	2	EFCAB6	22	44028018	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77263	44028018	7276548	20384	22530											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358439.4_3'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.T272I	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													55	215					0	0	1	0	0	A	44074024	G	A	44074024	3	1	22	1	0	0	0	0	1	0	0	0	4965	1377	48	2	3314	2	EFCAB6	22	44074024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46006	44074024	7230542	20385	22531											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358439.4_Missense_Mutation_p.A74T|EFCAB6_ENST00000396231.2_Missense_Mutation_p.A28T|EFCAB6_ENST00000356087.4_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													75	336					0	0	1	0	0	T	44131843	C	T	44131843	3	4	22	1	0	0	0	0	1	0	0	0	4965	797	28	2	4071	2	EFCAB6	22	44131843	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57819	44131843	7172723	20386	22532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	260					1.08241e-25	1.24348e-25	1	1	0	A	44234874	C	A	44234874	5	1	22	1	0	0	0	0	0	0	1	0	15439	695	24	2	489	2	SULT4A1	22	44234874	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103031	44234874	7069692	20387	22533											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	406					0	0	1	0	0	A	44364674	G	A	44364674	3	1	22	1	0	0	0	0	1	0	0	0	13881	1174	41	2	312	2	SAMM50	22	44364674	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129800	44364674	6939892	20388	22534											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	316					0	0	1	0	0	A	44368124	G	A	44368124	3	1	22	1	0	0	0	0	1	0	0	0	13881	1087	38	1	349	1	SAMM50	22	44368124	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3450	44368124	6936442	20389	22535											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44559756G>A	ENST00000338758.6	+	12	1027	c.964G>A	c.(964-966)Gcc>Acc	p.A322T	PARVB_ENST00000406477.3_Missense_Mutation_p.A355T|PARVB_ENST00000404989.1_Missense_Mutation_p.A285T	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	322	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													41	336					0	0	1	0	0	A	44559756	G	A	44559756	3	1	22	1	0	0	0	0	1	0	0	0	11516	1087	38	1	1229	1	PARVB	22	44559756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191632	44559756	6744810	20390	22536											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44583713C>T	ENST00000422871.1	+	5	626	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	PARVG_ENST00000444313.2_Silent_p.L68L|PARVG_ENST00000415224.1_Silent_p.L68L	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	68	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													57	262					0	0	1	0	0	T	44583713	C	T	44583713	2	4	22	1	0	0	0	0	0	0	0	1	11517	680	24	2		2	PARVG	22	44583713	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23957	44583713	6720853	20391	22537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44586501C>T	ENST00000422871.1	+	7	883	c.459C>T	c.(457-459)gaC>gaT	p.D153D	PARVG_ENST00000444313.2_Silent_p.D153D|PARVG_ENST00000415224.1_Silent_p.D153D	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	153					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													68	312					0	0	1	0	0	T	44586501	C	T	44586501	2	4	22	1	0	0	0	0	0	0	0	1	11517	506	18	2		2	PARVG	22	44586501	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2788	44586501	6718065	20392	22538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44602221G>T	ENST00000422871.1	+	14	1335	c.911G>T	c.(910-912)aGc>aTc	p.S304I	PARVG_ENST00000444313.2_Missense_Mutation_p.S304I|PARVG_ENST00000415224.1_Missense_Mutation_p.S304I	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	304	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													45	268					6.23363e-37	7.47573e-37	1	1	0	T	44602221	G	T	44602221	3	4	22	1	0	0	0	0	1	0	0	0	11517	971	34	2	957	2	PARVG	22	44602221	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15720	44602221	6702345	20393	22539											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	477					0	0	1	0	0	A	44681381	G	A	44681381	3	1	22	1	0	0	0	0	1	0	0	0	8292	1232	43	2	81	2	KIAA1644	22	44681381	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79160	44681381	6623185	20394	22540											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	180					8.20599e-20	9.16906e-20	1	1	0	A	44893032	C	A	44893032	3	1	22	1	0	0	0	0	1	0	0	0	8749	796	28	2	318	2	LDOC1L	22	44893032	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211651	44893032	6411534	20395	22541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	200					0	0	1	0	0	T	44893044	C	T	44893044	2	4	22	1	0	0	0	0	0	0	0	1	8749	639	23	1		1	LDOC1L	22	44893044	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12	44893044	6411522	20396	22542											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000336985.6_Silent_p.N261N|ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000517296.3_Intron	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													114	416					0	0	1	0	0	T	45132743	C	T	45132743	2	4	22	1	0	0	0	0	0	0	0	1	12650	506	18	2		2	PRR5	22	45132743	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239699	45132743	6171823	20397	22543											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356099.6_Silent_p.S297S|ARHGAP8_ENST00000389774.2_Silent_p.S328S|ARHGAP8_ENST00000389773.5_Silent_p.S419S|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.S428S|ARHGAP8_ENST00000336963.4_Intron|ARHGAP8_ENST00000517296.3_Silent_p.S507S																breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						TGGAGAGCAGCCTGCGTGTCA	0.667													26	157					0	0	1	0	0	T	45255624	C	T	45255624	2	4	22	1	0	0	0	0	0	0	0	1	12651	738	26	2		2	PRR5-ARHGAP8	22	45255624	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122881	45255624	6048942	20398	22544											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404079.2_Intron|PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000447824.3_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													100	385					0	0	1	0	0	A	45309858	G	A	45309858	2	1	22	1	0	0	0	0	0	0	0	1	11882	1161	41	2		2	PHF21B	22	45309858	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54234	45309858	5994708	20399	22545											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45567527C>A	ENST00000347635.3	+	3	582	c.116C>A	c.(115-117)gCc>gAc	p.A39D	NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000407019.2_Missense_Mutation_p.A11D|NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000396096.2_Missense_Mutation_p.A11D	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	39					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													68	374					9.42754e-34	1.11862e-33	1	1	0	A	45567527	C	A	45567527	3	1	22	1	0	0	0	0	1	0	0	0	10814	739	26	2	122	2	NUP50	22	45567527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257669	45567527	5737039	20400	22546											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45577225A>C	ENST00000347635.3	+	6	1528	c.1062A>C	c.(1060-1062)gaA>gaC	p.E354D	NUP50_ENST00000425733.2_Missense_Mutation_p.E104D|NUP50_ENST00000407019.2_Missense_Mutation_p.E326D|NUP50_ENST00000396096.2_Missense_Mutation_p.E326D	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	354	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													48	252					0	0	1	0	0	C	45577225	A	C	45577225	3	2	22	1	0	0	0	0	1	0	0	0	10814	69	3	3	1080	3	NUP50	22	45577225	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9698	45577225	5727341	20401	22547											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	128					0	0	1	0	0	A	45767427	G	A	45767427	3	1	22	1	0	0	0	0	1	0	0	0	14836	942	33	2	1518	2	SMC1B	22	45767427	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190202	45767427	5537139	20402	22548											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	415					0	0	1	0	0	A	45804686	G	A	45804686	3	1	22	1	0	0	0	0	1	0	0	0	14836	1319	46	2	3600	2	SMC1B	22	45804686	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37259	45804686	5499880	20403	22549											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45946495C>T	ENST00000348697.2	+	14	1844	c.1697_splice	c.e14+1	p.T566_splice	FBLN1_ENST00000340923.5_Splice_Site_p.T566_splice|FBLN1_ENST00000327858.6_Splice_Site_p.T566_splice|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000262722.7_Splice_Site_p.T566_splice|FBLN1_ENST00000442170.2_Splice_Site_p.T566_splice|FBLN1_ENST00000402984.3_Splice_Site_p.T604_splice			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													84	390					0	0	1	0	0	T	45946495	C	T	45946495	5	4	22	1	0	0	0	0	0	0	1	0	5731	550	19	1	1751	1	FBLN1	22	45946495	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141809	45946495	5358071	20404	22550											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	335					0	0	1	0	0	A	46125440	G	A	46125440	2	1	22	1	0	0	0	0	0	0	0	1	1208	962	34	2		2	ATXN10	22	46125440	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178945	46125440	5179126	20405	22551											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000262735.5_Missense_Mutation_p.Y155H|PPARA_ENST00000434345.2_Missense_Mutation_p.Y155H|PPARA_ENST00000407236.1_Missense_Mutation_p.Y155H|PPARA_ENST00000402126.1_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													130	564					0	0	1	0	0	C	46614253	T	C	46614253	3	2	22	1	0	0	0	0	1	0	0	0	12342	1638	57	3	473	3	PPARA	22	46614253	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	488813	46614253	4690313	20406	22552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000262735.5_Silent_p.A316A|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000407236.1_Silent_p.A316A|PPARA_ENST00000402126.1_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													18	568					0	0	1	0	0	T	46627925	C	T	46627925	2	4	22	1	0	0	0	0	0	0	0	1	12342	581	21	2		2	PPARA	22	46627925	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13672	46627925	4676641	20407	22553											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	1091					0	0	1	0	0	G	46653832	T	G	46653832	3	3	22	1	0	0	0	0	1	0	0	0	12018	1606	56	3	1377	3	PKDREJ	22	46653832	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25907	46653832	4650734	20408	22554											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	477					0	0	1	0	0	A	46655499	G	A	46655499	3	1	22	1	0	0	0	0	1	0	0	0	12018	1058	37	1	3044	1	PKDREJ	22	46655499	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1667	46655499	4649067	20409	22555											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													128	581					0	0	1	0	0	A	46655796	G	A	46655796	3	1	22	1	0	0	0	0	1	0	0	0	12018	1086	38	1	3341	1	PKDREJ	22	46655796	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	297	46655796	4648770	20410	22556											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	282					0	0	1	0	0	C	46655931	T	C	46655931	3	2	22	1	0	0	0	0	1	0	0	0	12018	1493	52	3	3476	3	PKDREJ	22	46655931	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	135	46655931	4648635	20411	22557											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	147					0	0	1	0	0	A	46655993	G	A	46655993	3	1	22	1	0	0	0	0	1	0	0	0	12018	1029	36	2	3538	2	PKDREJ	22	46655993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62	46655993	4648573	20412	22558											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	160					1.22674e-20	1.37621e-20	1	1	0	T	46656713	G	T	46656713	3	4	22	1	0	0	0	0	1	0	0	0	12018	942	33	2	4258	2	PKDREJ	22	46656713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	720	46656713	4647853	20413	22559											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													237	980					0	0	1	0	0	G	46657717	A	G	46657717	2	3	22	1	0	0	0	0	0	0	0	1	12018	146	6	3		3	PKDREJ	22	46657717	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1004	46657717	4646849	20414	22560											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_060401.2	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	380							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						TGCCCCTGTGCCAGGCCCTGG	0.687													33	261					0	0	1	0	0	T	46685356	C	T	46685356	2	4	22	1	0	0	0	0	0	0	0	1	16768	747	26	2		2	TTC38	22	46685356	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27639	46685356	4619210	20415	22561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_057510.4	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													123	424					1.45844e-59	1.83211e-59	1	1	0	T	46704391	G	T	46704391	3	4	22	1	0	0	0	0	1	0	0	0	6926	971	34	2	323	2	GTSE1	22	46704391	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19035	46704391	4600175	20416	22562											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_057510.4	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													73	419					4.38816e-42	5.33856e-42	1	1	0	T	46712143	G	T	46712143	3	4	22	1	0	0	0	0	1	0	0	0	6926	933	33	2	1288	2	GTSE1	22	46712143	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7752	46712143	4592423	20417	22563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	41	170					0	0	1	0	0	T	46787161	C	T	46787161	3	4	22	1	0	0	0	0	1	0	0	0	3243	797	28	2	2952	2	CELSR1	22	46787161	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75018	46787161	4517405	20418	22564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	87					0	0	1	0	0	A	46859644	G	A	46859644	2	1	22	1	0	0	0	0	0	0	0	1	3243	1074	38	1		1	CELSR1	22	46859644	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72483	46859644	4444922	20419	22565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	218					0	0	1	0	0	T	46930291	C	T	46930291	3	4	22	1	0	0	0	0	1	0	0	0	3243	536	19	1	6407	1	CELSR1	22	46930291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70647	46930291	4374275	20420	22566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	204					0	0	1	0	0	T	46931735	C	T	46931735	3	4	22	1	0	0	0	0	1	0	0	0	3243	536	19	1	7851	1	CELSR1	22	46931735	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1444	46931735	4372831	20421	22567											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	554					0	0	1	0	0	T	47116880	C	T	47116880	3	4	22	1	0	0	0	0	1	0	0	0	3289	768	27	1	1486	1	CERK	22	47116880	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	185145	47116880	4187686	20422	22568											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407381.3_Intron|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000406733.1_Silent_p.A142A|TBC1D22A_ENST00000380995.1_Silent_p.A142A	NM_014346.2	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)	55	227					0	0	1	0	0	A	47193447	G	A	47193447	2	1	22	1	0	0	0	0	0	0	0	1	15668	1074	38	1		1	TBC1D22A	22	47193447	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76567	47193447	4111119	20423	22569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407381.3_Missense_Mutation_p.P324H|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.P305H|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.P336H	NM_014346.2	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													68	297					1.85257e-25	2.12574e-25	1	1	0	A	47393552	C	A	47393552	3	1	22	1	0	0	0	0	1	0	0	0	15668	681	24	2	1186	2	TBC1D22A	22	47393552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200105	47393552	3911014	20424	22570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000407381.3_Silent_p.A450A|TBC1D22A_ENST00000355704.3_Silent_p.A431A|TBC1D22A_ENST00000406733.1_Silent_p.A462A	NM_014346.2	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													93	633					0	0	1	0	0	T	47569242	C	T	47569242	2	4	22	1	0	0	0	0	0	0	0	1	15668	639	23	1		1	TBC1D22A	22	47569242	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175690	47569242	3735324	20425	22571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	159					0	0	1	0	0	T	49042475	C	T	49042475	3	4	22	1	0	0	0	0	1	0	0	0	5567	536	19	1	280	1	FAM19A5	22	49042475	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1473233	49042475	2262091	20426	22572											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542442.1_Missense_Mutation_p.A509T|BRD1_ENST00000457780.2_Silent_p.T924T|BRD1_ENST00000404760.1_Missense_Mutation_p.A952T|BRD1_ENST00000404034.1_Missense_Mutation_p.A821T|BRD1_ENST00000342989.5_Missense_Mutation_p.A547T	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													61	269					0	0	1	0	0	T	50181041	C	T	50181041	3	4	22	1	0	0	0	0	1	0	0	0	1503	768	27	1	739	1	BRD1	22	50181041	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1138566	50181041	1123525	20427	22573											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542442.1_Missense_Mutation_p.D414N|BRD1_ENST00000457780.2_Missense_Mutation_p.D726N|BRD1_ENST00000404760.1_Missense_Mutation_p.D726N|BRD1_ENST00000404034.1_Missense_Mutation_p.D726N|BRD1_ENST00000342989.5_Missense_Mutation_p.D321N	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													71	353					0	0	1	0	0	T	50187865	C	T	50187865	3	4	22	1	0	0	0	0	1	0	0	0	1503	884	31	1	1028	1	BRD1	22	50187865	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6824	50187865	1116701	20428	22574											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542442.1_Missense_Mutation_p.R344H|BRD1_ENST00000457780.2_Missense_Mutation_p.R656H|BRD1_ENST00000404760.1_Missense_Mutation_p.R656H|BRD1_ENST00000404034.1_Missense_Mutation_p.R656H|BRD1_ENST00000342989.5_Missense_Mutation_p.R251H	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													63	239					0	0	1	0	0	T	50191584	C	T	50191584	3	4	22	1	0	0	0	0	1	0	0	0	1503	768	27	1	1241	1	BRD1	22	50191584	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3719	50191584	1112982	20429	22575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50277250A>T	ENST00000216268.4	+	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													25	109					0	0	1	0	0	T	50277250	A	T	50277250	1	4	22	1	0	0	0	0	0	0	0	0	17579	116	4	5		5	ZBED4	22	50277250	Translation_Start_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	85666	50277250	1027316	20430	22576											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50278993G>A	ENST00000216268.4	+	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	561						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													15	676					0	0	1	0	0	A	50278993	G	A	50278993	2	1	22	1	0	0	0	0	0	0	0	1	17579	1045	37	1		1	ZBED4	22	50278993	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1743	50278993	1025573	20431	22577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50280636C>T	ENST00000216268.4	+	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	1109						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													59	251					0	0	1	0	0	T	50280636	C	T	50280636	3	4	22	1	0	0	0	0	1	0	0	0	17579	768	27	1	3328	1	ZBED4	22	50280636	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1643	50280636	1023930	20432	22578											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50303569C>T	ENST00000330817.5	-	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	213					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													38	266					0	0	1	0	0	T	50303569	C	T	50303569	3	4	22	1	0	0	0	0	1	0	0	0	511	768	27	1	853	1	ALG12	22	50303569	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22933	50303569	1000997	20433	22579											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50307102C>A	ENST00000330817.5	-	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	76					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													36	354					5.8336e-16	6.39204e-16	1	1	0	A	50307102	C	A	50307102	3	1	22	1	0	0	0	0	1	0	0	0	511	565	20	2	1272	2	ALG12	22	50307102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3533	50307102	997464	20434	22580											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50356512A>G	ENST00000360612.4	+	5	1227	c.793_splice	c.e5+1	p.P264_splice		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													13	299					0	0	1	0	0	G	50356512	A	G	50356512	5	3	22	1	0	0	0	0	0	0	1	0	11977	202	7	3	810	3	PIM3	22	50356512	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49410	50356512	948054	20435	22581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	126					0	0	1	0	0	A	50439203	G	A	50439203	3	1	22	1	0	0	0	0	1	0	0	0	7688	1115	39	1	851	1	IL17REL	22	50439203	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82691	50439203	865363	20436	22582											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	40					0	0	1	0	0	A	50439631	G	A	50439631	1	1	22	1	0	0	0	0	0	0	0	0	7688	1160	40	1		1	IL17REL	22	50439631	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	428	50439631	864935	20437	22583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	27					0	0	1	0	0	A	50454928	G	A	50454928	3	1	22	1	0	0	0	0	1	0	0	0	16795	1145	40	1	244	1	TTLL8	22	50454928	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15297	50454928	849638	20438	22584											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	52					0	0	1	0	0	T	50471771	C	T	50471771	2	4	22	1	0	0	0	0	0	0	0	1	16795	755	27	1		1	TTLL8	22	50471771	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16843	50471771	832795	20439	22585											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													120	532					9.79165e-58	1.22661e-57	1	1	0	T	50479664	G	T	50479664	2	4	22	1	0	0	0	0	0	0	0	1	16795	1164	41	2		2	TTLL8	22	50479664	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7893	50479664	824902	20440	22586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	59					0	0	1	0	0	A	50480200	G	A	50480200	3	1	22	1	0	0	0	0	1	0	0	0	16795	1116	39	1	1855	1	TTLL8	22	50480200	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	536	50480200	824366	20441	22587											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	37					0	0	1	0	0	C	50493029	A	C	50493029	2	2	22	1	0	0	0	0	0	0	0	1	16795	59	3	3		3	TTLL8	22	50493029	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12829	50493029	811537	20442	22588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395876.2_Missense_Mutation_p.R349C|MLC1_ENST00000450140.2_Missense_Mutation_p.R297C|MLC1_ENST00000535444.1_Missense_Mutation_p.R270C|MLC1_ENST00000431262.2_Missense_Mutation_p.R319C|MLC1_ENST00000538737.1_Missense_Mutation_p.R315C|MLC1_ENST00000483836.1_5'UTR	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													29	145					0	0	1	0	0	A	50502477	G	A	50502477	3	1	22	1	0	0	0	0	1	0	0	0	9660	1087	38	1	96	1	MLC1	22	50502477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9448	50502477	802089	20443	22589											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395858.3_Missense_Mutation_p.K283N|MOV10L1_ENST00000540615.1_Missense_Mutation_p.K263N	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													74	292					4.59617e-45	5.6316e-45	1	1	0	T	50552182	G	T	50552182	3	4	22	1	0	0	0	0	1	0	0	0	9768	991	35	2	912	2	MOV10L1	22	50552182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49705	50552182	752384	20444	22590											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395858.3_Missense_Mutation_p.E599K|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E579K	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													47	225					0	0	1	0	0	A	50564678	G	A	50564678	3	1	22	1	0	0	0	0	1	0	0	0	9768	1059	37	1	1882	1	MOV10L1	22	50564678	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12496	50564678	739888	20445	22591											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	97					0	0	1	0	0	A	50615556	G	A	50615556	3	1	22	1	0	0	0	0	1	0	0	0	11468	1087	38	1	421	1	PANX2	22	50615556	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50878	50615556	689010	20446	22592											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	345					0	0	1	0	0	T	50635949	C	T	50635949	2	4	22	1	0	0	0	0	0	0	0	1	16496	874	31	1		1	TRABD	22	50635949	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20393	50635949	668617	20447	22593											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	291					0	0	1	0	0	A	50664719	G	A	50664719	4	1	22	1	0	0	0	0	0	1	0	0	16832	1124	39	1	3841	1	TUBGCP6	22	50664719	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28770	50664719	639847	20448	22594											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	131					0	0	1	0	0	T	50671771	C	T	50671771	3	4	22	1	0	0	0	0	1	0	0	0	16832	536	19	1	4461	1	TUBGCP6	22	50671771	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7052	50671771	632795	20449	22595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	223					0	0	1	0	0	A	50682221	G	A	50682221	3	1	22	1	0	0	0	0	1	0	0	0	16832	1029	36	2	4891	2	TUBGCP6	22	50682221	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10450	50682221	622345	20450	22596											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395780.1_Missense_Mutation_p.G67D|MAPK12_ENST00000497036.1_5'UTR	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													103	468					0	0	1	0	0	T	50695062	C	T	50695062	3	4	22	1	0	0	0	0	1	0	0	0	9324	739	26	2	661	2	MAPK12	22	50695062	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12841	50695062	609504	20451	22597											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	106					4.26978e-12	4.57227e-12	1	1	0	T	50705581	G	T	50705581	3	4	22	1	0	0	0	0	1	0	0	0	9323	971	34	2	652	2	MAPK11	22	50705581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10519	50705581	598985	20452	22598											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	203					0	0	1	0	0	A	50719911	G	A	50719911	2	1	22	1	0	0	0	0	0	0	0	1	12172	1074	38	1		1	PLXNB2	22	50719911	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14330	50719911	584655	20453	22599											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	355					0	0	1	0	0	A	50728054	G	A	50728054	2	1	22	1	0	0	0	0	0	0	0	1	12172	1136	40	1		1	PLXNB2	22	50728054	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8143	50728054	576512	20454	22600											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	320					0	0	1	0	0	A	50728215	G	A	50728215	3	1	22	1	0	0	0	0	1	0	0	0	12172	1115	39	1	4857	1	PLXNB2	22	50728215	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	50728215	576351	20455	22601											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	272					0	0	1	0	0	T	50728347	C	T	50728347	3	4	22	1	0	0	0	0	1	0	0	0	12172	893	31	1	4989	1	PLXNB2	22	50728347	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132	50728347	576219	20456	22602											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50899987C>T	ENST00000380817.2	-	22	2987	c.2804G>A	c.(2803-2805)cGg>cAg	p.R935Q	SBF1_ENST00000390679.3_Missense_Mutation_p.R935Q|SBF1_ENST00000348911.6_Missense_Mutation_p.R936Q	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	935	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													10	205					0	0	1	0	0	T	50899987	C	T	50899987	3	4	22	1	0	0	0	0	1	0	0	0	13911	652	23	1	2957	1	SBF1	22	50899987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171640	50899987	404579	20457	22603											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50903334C>T	ENST00000380817.2	-	13	1528	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	SBF1_ENST00000390679.3_Missense_Mutation_p.E449K|SBF1_ENST00000348911.6_Missense_Mutation_p.E450K	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	449					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													49	253					0	0	1	0	0	T	50903334	C	T	50903334	3	4	22	1	0	0	0	0	1	0	0	0	13911	893	31	1	4452	1	SBF1	22	50903334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3347	50903334	401232	20458	22604											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50904432C>T	ENST00000380817.2	-	9	1152	c.969G>A	c.(967-969)ttG>ttA	p.L323L	SBF1_ENST00000390679.3_Silent_p.L323L|SBF1_ENST00000348911.6_Silent_p.L324L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	323					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													91	475					0	0	1	0	0	T	50904432	C	T	50904432	2	4	22	1	0	0	0	0	0	0	0	1	13911	709	25	2		2	SBF1	22	50904432	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1098	50904432	400134	20459	22605											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50905844C>A	ENST00000380817.2	-	5	655	c.472G>T	c.(472-474)Gag>Tag	p.E158*	SBF1_ENST00000390679.3_Nonsense_Mutation_p.E158*|SBF1_ENST00000348911.6_Nonsense_Mutation_p.E159*	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	158	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													139	519					2.87455e-64	3.63151e-64	1	1	0	A	50905844	C	A	50905844	4	1	22	1	0	0	0	0	0	1	0	0	13911	864	30	2	5357	2	SBF1	22	50905844	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1412	50905844	398722	20460	22606											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	109					1.10923e-09	1.16946e-09	1	1	0	A	50921212	C	A	50921212	3	1	22	1	0	0	0	0	1	0	0	0	321	784	28	2	333	2	ADM2	22	50921212	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15368	50921212	383354	20461	22607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380796.3_Missense_Mutation_p.A253T|LMF2_ENST00000505981.1_5'UTR|LMF2_ENST00000474879.2_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													13	43					0	0	1	0	0	T	50944481	C	T	50944481	3	4	22	1	0	0	0	0	1	0	0	0	8887	739	26	2	1406	2	LMF2	22	50944481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23269	50944481	360085	20462	22608											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380796.3_Silent_p.L94L|LMF2_ENST00000505981.1_5'UTR|LMF2_ENST00000474879.2_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													4	68					0	0	1	0	0	A	50945279	G	A	50945279	2	1	22	1	0	0	0	0	0	0	0	1	8887	962	34	2		2	LMF2	22	50945279	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	798	50945279	359287	20463	22609											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395698.3_Missense_Mutation_p.R168H|NCAPH2_ENST00000299821.11_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													11	236					0	0	1	0	0	A	50956564	G	A	50956564	3	1	22	1	0	0	0	0	1	0	0	0	10257	1145	40	1	529	1	NCAPH2	22	50956564	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11285	50956564	348002	20464	22610											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	516					1.38358e-46	1.70057e-46	1	1	0	A	50987929	C	A	50987929	3	1	22	1	0	0	0	0	1	0	0	0	8404	797	28	2	1336	2	KLHDC7B	22	50987929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31365	50987929	316637	20465	22611											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434492.2_Missense_Mutation_p.F380V|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.F585V|CPT1B_ENST00000440709.1_Missense_Mutation_p.F504V|CPT1B_ENST00000395650.2_Missense_Mutation_p.F585V|CPT1B_ENST00000405237.3_Missense_Mutation_p.F585V|CPT1B_ENST00000457250.1_Missense_Mutation_p.F551V	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													72	228					0	0	1	0	0	C	51009709	A	C	51009709	3	2	22	1	0	0	0	0	1	0	0	0	3855	43	2	3	585	3	CPT1B	22	51009709	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21780	51009709	294857	20466	22612											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434492.2_Silent_p.A212A|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Silent_p.A415A|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000395650.2_Silent_p.A415A|CPT1B_ENST00000405237.3_Silent_p.A415A|CPT1B_ENST00000457250.1_Silent_p.A381A	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													130	483					0	0	1	0	0	A	51011411	G	A	51011411	2	1	22	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	20467	22613											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434492.2_Missense_Mutation_p.Q155H|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.Q358H|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000395650.2_Missense_Mutation_p.Q358H|CPT1B_ENST00000405237.3_Missense_Mutation_p.Q358H|CPT1B_ENST00000457250.1_Missense_Mutation_p.Q324H	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													57	280					2.17126e-26	2.5019e-26	1	1	0	A	51012041	C	A	51012041	3	1	22	1	0	0	0	0	1	0	0	0	3855	680	24	2	1284	2	CPT1B	22	51012041	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	630	51012041	292525	20468	22614											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434492.2_Silent_p.G148G|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Silent_p.G351G|CPT1B_ENST00000440709.1_Silent_p.G351G|CPT1B_ENST00000395650.2_Silent_p.G351G|CPT1B_ENST00000405237.3_Silent_p.G351G|CPT1B_ENST00000457250.1_Silent_p.G317G	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													28	248					0	0	1	0	0	A	51012062	G	A	51012062	2	1	22	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	20469	22615											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434492.2_Nonsense_Mutation_p.R42*|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Nonsense_Mutation_p.R245*|CPT1B_ENST00000440709.1_Nonsense_Mutation_p.R245*|CPT1B_ENST00000395650.2_Nonsense_Mutation_p.R245*|CPT1B_ENST00000405237.3_Nonsense_Mutation_p.R245*|CPT1B_ENST00000457250.1_Nonsense_Mutation_p.R211*	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)	74	336					0	0	1	0	0	A	51014508	G	A	51014508	4	1	22	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	20470	22616											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434492.2_5'UTR|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.C90Y|CPT1B_ENST00000440709.1_Missense_Mutation_p.C90Y|CPT1B_ENST00000395650.2_Missense_Mutation_p.C90Y|CPT1B_ENST00000405237.3_Missense_Mutation_p.C90Y|CPT1B_ENST00000457250.1_Missense_Mutation_p.C90Y	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													11	289					0	0	1	0	0	T	51015765	C	T	51015765	3	4	22	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	20471	22617											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000442429.2_Intron|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.G556D|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.G262D|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.G177D	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													54	209					0	0	1	0	0	A	51043397	G	A	51043397	3	1	22	1	0	0	0	0	1	0	0	0	9335	1261	44	2	1777	2	MAPK8IP2	22	51043397	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27632	51043397	261169	20472	22618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000547805.1_Silent_p.D467D|ARSA_ENST00000216124.5_Silent_p.D469D|ARSA_ENST00000356098.5_Silent_p.D469D|ARSA_ENST00000395621.3_Silent_p.D469D|ARSA_ENST00000395619.3_Silent_p.D469D|ARSA_ENST00000453344.2_Silent_p.D383D			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													64	225					0	0	1	0	0	A	51063696	G	A	51063696	2	1	22	1	0	0	0	0	0	0	0	1	986	1136	40	1		1	ARSA	22	51063696	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20299	51063696	240870	20473	22619											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000445220.2_Silent_p.R547R|SHANK3_ENST00000262795.3_Silent_p.R562R			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													10	55					6.40141e-05	6.5221e-05	1	1	0	T	51142313	G	T	51142313	2	4	22	1	0	0	0	0	0	0	0	1	14321	1190	42	2		2	SHANK3	22	51142313	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78617	51142313	162253	20474	22620											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	594					0	0	1	0	0	C	51182561	A	C	51182561	3	2	22	1	0	0	0	0	1	0	0	0	169	188	7	3	652	3	ACR	22	51182561	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40248	51182561	122005	20475	22621											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000435118.1_Missense_Mutation_p.T117A|RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000395593.3_Missense_Mutation_p.T117A|RABL2B_ENST00000395598.3_Missense_Mutation_p.T117A|RABL2B_ENST00000395591.1_Intron	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													30	315					0	0	1	0	0	C	51208393	T	C	51208393	3	2	22	1	0	0	0	0	1	0	0	0	13023	1638	57	3	386	3	RABL2B	22	51208393	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25832	51208393	96173	20476	22622											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381663.3_Missense_Mutation_p.D104Y|PLCXD1_ENST00000484611.2_3'UTR|PLCXD1_ENST00000399012.1_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													66	213					5.45122e-27	6.30096e-27	1	1	0	T	207360	G	T	207360	3	4	22	1	0	0	0	0	1	0	0	0	12089	1174	41	2	320	2	PLCXD1	23	207360	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08		207360	155063200	20477	22623											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	277					0	0	1	0	0	A	301612	G	A	301612	2	1	22	1	0	0	0	0	0	0	0	1	12438	1045	37	1		1	PPP2R3B	23	301612	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94252	301612	154968948	20478	22624											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								10	153					0	0	1	0	0	A	1584758	G	A	1584758	3	1	22	1	0	0	0	0	1	0	0	0	11402	1086	38	1	389	1	P2RY8	23	1584758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1283146	1584758	153685802	20479	22625											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								26	79					0	0	1	0	0	A	1585098	G	A	1585098	2	1	22	1	0	0	0	0	0	0	0	1	11402	1078	38	1		1	P2RY8	23	1585098	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	340	1585098	153685462	20480	22626											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP13-297E16.3_ENST00000509780.1_RNA	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													204	608					0	0	1	0	0	C	1746651	A	C	1746651	3	2	22	1	0	0	0	0	1	0	0	0	1044	391	14	3	444	3	ASMT	23	1746651	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	161553	1746651	153523909	20481	22627											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	286					0	0	1	0	0	A	2139202	G	A	2139202	2	1	22	1	0	0	0	0	0	0	0	1	4527	1190	42	2		2	DHRSX	23	2139202	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	392551	2139202	153131358	20482	22628											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381218.3_Missense_Mutation_p.A655V|RP11-325D5.3_ENST00000515319.1_RNA|ZBED1_ENST00000381222.2_Missense_Mutation_p.A655V|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	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													185	528					0	0	1	0	0	A	2406797	G	A	2406797	3	1	22	1	0	0	0	0	1	0	0	0	17577	1319	46	2	124	2	ZBED1	23	2406797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	267595	2406797	152863763	20483	22629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381218.3_Missense_Mutation_p.R615H|RP11-325D5.3_ENST00000515319.1_RNA|ZBED1_ENST00000381222.2_Missense_Mutation_p.R615H|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	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													217	711					0	0	1	0	0	T	2406917	C	T	2406917	3	4	22	1	0	0	0	0	1	0	0	0	17577	768	27	1	244	1	ZBED1	23	2406917	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120	2406917	152863643	20484	22630											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381218.3_Missense_Mutation_p.R316H|ZBED1_ENST00000381222.2_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													78	246					0	0	1	0	0	T	2407814	C	T	2407814	3	4	22	1	0	0	0	0	1	0	0	0	17577	768	27	1	1141	1	ZBED1	23	2407814	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	897	2407814	152862746	20485	22631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381218.3_Missense_Mutation_p.Q104H|ZBED1_ENST00000381222.2_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													44	396					8.20599e-20	9.16906e-20	1	1	0	A	2408449	C	A	2408449	3	1	22	1	0	0	0	0	1	0	0	0	17577	796	28	2	1776	2	ZBED1	23	2408449	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	635	2408449	152862111	20486	22632											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	22					0.00024832	0.000252053	1	1	0	T	2707735	G	T	2707735	3	4	22	1	0	0	0	0	1	0	0	0	17487	1116	39	4	259	4	XG	23	2707735	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299286	2707735	152562825	20487	22633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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													61	181					0	0	1	0	0	A	2861177	G	A	2861177	3	1	22	1	0	0	0	0	1	0	0	0	989	1059	37	1	730	1	ARSE	23	2861177	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153442	2861177	152409383	20488	22634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	127					8.44121e-28	9.79253e-28	1	1	0	A	2933300	C	A	2933300	2	1	22	1	0	0	0	0	0	0	0	1	992	668	24	2		2	ARSH	23	2933300	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72123	2933300	152337260	20489	22635											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	297					1.19451e-25	1.37202e-25	1	1	0	T	2945456	G	T	2945456	3	4	22	1	0	0	0	0	1	0	0	0	992	971	34	2	1165	2	ARSH	23	2945456	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12156	2945456	152325104	20490	22636											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	493					0	0	1	0	0	A	3030396	G	A	3030396	2	1	22	1	0	0	0	0	0	0	0	1	990	962	34	2		2	ARSF	23	3030396	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84940	3030396	152240164	20491	22637											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	66					0	0	1	0	0	T	3235453	C	T	3235453	3	4	22	1	0	0	0	0	1	0	0	0	10051	768	27	1	2225	1	MXRA5	23	3235453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	205057	3235453	152035107	20492	22638											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	487					7.80801e-58	9.78215e-58	1	1	0	T	3240577	G	T	3240577	3	4	22	1	0	0	0	0	1	0	0	0	10051	1029	36	2	5349	2	MXRA5	23	3240577	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5124	3240577	152029983	20493	22639											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	393					5.26018e-13	5.6673e-13	1	1	0	T	3241106	G	T	3241106	3	4	22	1	0	0	0	0	1	0	0	0	10051	942	33	2	5878	2	MXRA5	23	3241106	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	529	3241106	152029454	20494	22640											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	293					2.17888e-05	2.22852e-05	1	1	0	A	3242815	C	A	3242815	3	1	22	1	0	0	0	0	1	0	0	0	10051	797	28	2	7587	2	MXRA5	23	3242815	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1709	3242815	152027745	20495	22641											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	100					0	0	1	0	0	T	3248806	C	T	3248806	3	4	22	1	0	0	0	0	1	0	0	0	10051	797	28	2	8309	2	MXRA5	23	3248806	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5991	3248806	152021754	20496	22642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	136					1.22674e-20	1.37621e-20	1	1	0	A	3261761	C	A	3261761	3	1	22	1	0	0	0	0	1	0	0	0	10051	680	24	2	8396	2	MXRA5	23	3261761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12955	3261761	152008799	20497	22643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	79					0	0	1	0	0	A	5950748	G	A	5950748	2	1	22	1	0	0	0	0	0	0	0	1	10511	1276	44	2		2	NLGN4X	23	5950748	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2688987	5950748	149319812	20498	22644											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				108	325					1.15365e-47	1.42094e-47	1	1	0	A	7252125	C	A	7252125	3	1	22	1	0	0	0	0	1	0	0	0	15388	797	28	2	1389	2	STS	23	7252125	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1301377	7252125	148018435	20499	22645											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453306.1_Missense_Mutation_p.P10H|VCX3B_ENST00000381029.4_Missense_Mutation_p.P10H|VCX3B_ENST00000440654.2_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													22	974					1.78486e-19	1.99151e-19	1	1	0	A	8433520	C	A	8433520	3	1	22	1	0	0	0	0	1	0	0	0	17205	681	24	2	31	2	VCX3B	23	8433520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1181395	8433520	146837040	20500	22646											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453306.1_Intron|VCX3B_ENST00000381029.4_Missense_Mutation_p.S203G|VCX3B_ENST00000440654.2_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													266	960					0	0	1	0	0	G	8434386	A	G	8434386	3	3	22	1	0	0	0	0	1	0	0	0	17205	304	11	3	623	3	VCX3B	23	8434386	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	866	8434386	146836174	20501	22647											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													214	754					0	0	1	0	0	C	9000434	T	C	9000434	3	2	22	1	0	0	0	0	1	0	0	0	5693	1725	60	3	487	3	FAM9B	23	9000434	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	566048	9000434	146270126	20502	22648											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	204					0	0	1	0	0	C	9001030	A	C	9001030	3	2	22	1	0	0	0	0	1	0	0	0	5693	116	4	3		3	FAM9B	23	9001030	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	596	9001030	146269530	20503	22649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	34					0	0	1	0	0	G	9728834	A	G	9728834	3	3	22	1	0	0	0	0	1	0	0	0	6691	101	4	3	963	3	GPR143	23	9728834	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	727804	9728834	145541726	20504	22650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	104					0	0	1	0	0	T	9863881	C	T	9863881	3	4	22	1	0	0	0	0	1	0	0	0	14349	643	23	1	1947	1	SHROOM2	23	9863881	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135047	9863881	145406679	20505	22651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	101					0	0	1	0	0	T	9905433	C	T	9905433	3	4	22	1	0	0	0	0	1	0	0	0	14349	739	26	2	3873	2	SHROOM2	23	9905433	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41552	9905433	145365127	20506	22652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	372					0	0	1	0	0	T	10180547	C	T	10180547	3	4	22	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	20507	22653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380787.1_Missense_Mutation_p.I650S|MID1_ENST00000380779.1_Missense_Mutation_p.I650S|MID1_ENST00000453318.2_Missense_Mutation_p.I650S|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380785.1_Missense_Mutation_p.I650S|MID1_ENST00000380780.1_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													71	222					0	0	1	0	0	C	10417463	A	C	10417463	3	2	22	1	0	0	0	0	1	0	0	0	9624	101	4	3	58	3	MID1	23	10417463	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	236916	10417463	144853097	20508	22654											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380787.1_Missense_Mutation_p.N467I|MID1_ENST00000380779.1_Missense_Mutation_p.N467I|MID1_ENST00000453318.2_Missense_Mutation_p.N467I|MID1_ENST00000380782.2_Missense_Mutation_p.N467I|MID1_ENST00000380785.1_Missense_Mutation_p.N467I|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380780.1_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													193	663					0	0	1	0	0	A	10427733	T	A	10427733	3	1	22	1	0	0	0	0	1	0	0	0	9624	1725	60	5	615	5	MID1	23	10427733	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10270	10427733	144842827	20509	22655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000303025.6_Missense_Mutation_p.L656M|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.L656M|ARHGAP6_ENST00000534860.1_Intron	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													20	69					3.99206e-14	4.32713e-14	1	1	0	T	11157333	G	T	11157333	3	4	22	1	0	0	0	0	1	0	0	0	884	962	34	2	353	2	ARHGAP6	23	11157333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	729600	11157333	144113227	20510	22656											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000303025.6_Silent_p.S541S|ARHGAP6_ENST00000380736.1_Silent_p.S541S|ARHGAP6_ENST00000534860.1_Silent_p.S569S	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													76	298					0	0	1	0	0	A	11160378	G	A	11160378	2	1	22	1	0	0	0	0	0	0	0	1	884	1078	38	1		1	ARHGAP6	23	11160378	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3045	11160378	144110182	20511	22657											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413512.3_Missense_Mutation_p.P92L|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.P80L|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.P80L|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.P283L|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.P315L|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.P108L	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													18	259					0	0	1	0	0	A	11207077	G	A	11207077	3	1	22	1	0	0	0	0	1	0	0	0	884	1232	43	2	2238	2	ARHGAP6	23	11207077	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46699	11207077	144063483	20512	22658											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467141.1_Intron|MSL3_ENST00000312196.4_Intron|MSL3_ENST00000398527.2_Intron|MSL3_ENST00000361672.2_Intron|MSL3_ENST00000380693.3_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													114	435					0	0	1	0	0	A	11783890	G	A	11783890	3	1	22	1	0	0	0	0	1	0	0	0	9928	1145	40	1	1247	1	MSL3	23	11783890	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	576813	11783890	143486670	20513	22659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	469					0	0	1	0	0	A	12725605	G	A	12725605	2	1	22	1	0	0	0	0	0	0	0	1	6094	1103	39	1		1	FRMPD4	23	12725605	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	941715	12725605	142544955	20514	22660											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	323					0	0	1	0	0	A	12735057	G	A	12735057	3	1	22	1	0	0	0	0	1	0	0	0	6094	1203	42	2	2537	2	FRMPD4	23	12735057	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9452	12735057	142535503	20515	22661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	442					3.27315e-48	4.03804e-48	1	1	0	A	12937820	C	A	12937820	3	1	22	1	0	0	0	0	1	0	0	0	16017	739	26	2	667	2	TLR8	23	12937820	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202763	12937820	142332740	20516	22662											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13618094A>G	ENST00000361306.1	+	4	538	c.280_splice	c.e4-1	p.D94_splice	EGFL6_ENST00000380602.3_Splice_Site_p.D94_splice	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													63	256					0	0	1	0	0	G	13618094	A	G	13618094	5	3	22	1	0	0	0	0	0	0	1	0	4989	347	12	3	295	3	EGFL6	23	13618094	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	680274	13618094	141652466	20517	22663											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380602.3_Missense_Mutation_p.G432V|EGFL6_ENST00000473826.1_3'UTR	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													107	451					3.01456e-30	3.53427e-30	1	1	0	T	13645136	G	T	13645136	3	4	22	1	0	0	0	0	1	0	0	0	4989	1203	42	2	1337	2	EGFL6	23	13645136	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27042	13645136	141625424	20518	22664											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													149	597					0	0	1	0	0	T	13727191	C	T	13727191	3	4	22	1	0	0	0	0	1	0	0	0	13010	710	25	2	328	2	RAB9A	23	13727191	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82055	13727191	141543369	20519	22665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380550.3_Silent_p.L296L|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Silent_p.L296L|OFD1_ENST00000398395.3_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													56	186					0	0	1	0	0	T	13767603	C	T	13767603	2	4	22	1	0	0	0	0	0	0	0	1	10886	796	28	2		2	OFD1	23	13767603	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40412	13767603	141502957	20520	22666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													138	488					1.36427e-64	1.72405e-64	1	1	0	T	14038477	G	T	14038477	3	4	22	1	0	0	0	0	1	0	0	0	6376	962	34	2	544	2	GEMIN8	23	14038477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270874	14038477	141232083	20521	22667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	340					0	0	1	0	0	G	14548183	A	G	14548183	3	3	22	1	0	0	0	0	1	0	0	0	6497	246	9	3	6	3	GLRA2	23	14548183	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	509706	14548183	140722377	20522	22668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	458					1.40678e-64	1.77767e-64	1	1	0	A	14625300	C	A	14625300	3	1	22	1	0	0	0	0	1	0	0	0	6497	855	30	2	719	2	GLRA2	23	14625300	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77117	14625300	140645260	20523	22669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				66	156					0	0	1	0	0	G	14883249	A	G	14883249	2	3	22	1	0	0	0	0	0	0	0	1	5696	224	8	3		3	FANCB	23	14883249	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	257949	14883249	140387311	20524	22670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Missense_Mutation_p.S240R	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													142	606					3.1958e-86	4.09675e-86	1	1	0	A	14929376	C	A	14929376	3	1	22	1	0	0	0	0	1	0	0	0	9765	796	28	2	754	2	MOSPD2	23	14929376	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46127	14929376	140341184	20525	22671											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380488.4_Missense_Mutation_p.S57I|ASB9_ENST00000380483.3_Missense_Mutation_p.S57I|ASB9_ENST00000380485.3_Missense_Mutation_p.S57I|ASB9_ENST00000473862.1_5'UTR	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													75	237					3.20846e-33	3.7991e-33	1	1	0	A	15276992	C	A	15276992	3	1	22	1	0	0	0	0	1	0	0	0	1029	797	28	2	767	2	ASB9	23	15276992	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	347616	15276992	139993568	20526	22672											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380470.3_Missense_Mutation_p.R301Q|ASB11_ENST00000480796.1_Missense_Mutation_p.R318Q|ASB11_ENST00000344384.4_Missense_Mutation_p.R297Q			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													193	666					0	0	1	0	0	T	15301646	C	T	15301646	3	4	22	1	0	0	0	0	1	0	0	0	1014	884	31	1	22	1	ASB11	23	15301646	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24654	15301646	139968914	20527	22673											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	358					0	0	1	0	0	G	15403175	T	G	15403175	3	3	22	1	0	0	0	0	1	0	0	0	11992	1841	64	3	52	3	PIR	23	15403175	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	101529	15403175	139867385	20528	22674											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													125	409					1.05615e-46	1.29851e-46	1	1	0	A	15552432	C	A	15552432	3	1	22	1	0	0	0	0	1	0	0	0	1472	797	28	2	1159	2	BMX	23	15552432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149257	15552432	139718128	20529	22675											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													160	601					2.63875e-70	3.35177e-70	1	1	0	A	15568034	C	A	15568034	3	1	22	1	0	0	0	0	1	0	0	0	1472	912	32	2	1933	2	BMX	23	15568034	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15602	15568034	139702526	20530	22676											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								142	472					0	0	1	0	0	A	15827333	G	A	15827333	3	1	22	1	0	0	0	0	1	0	0	0	18267	1261	44	2	475	2	ZRSR2	23	15827333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	259299	15827333	139443227	20531	22677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													154	471					0	0	1	0	0	G	16168591	T	G	16168591	3	3	22	1	0	0	0	0	1	0	0	0	6849	1609	56	3	583	3	GRPR	23	16168591	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	341258	16168591	139101969	20532	22678											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													156	498					0	0	1	0	0	T	16635291	C	T	16635291	3	4	22	1	0	0	0	0	1	0	0	0	4047	864	30	2	244	2	CTPS2	23	16635291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	466700	16635291	138635269	20533	22679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	142					0	0	1	0	0	T	16855753	C	T	16855753	3	4	22	1	0	0	0	0	1	0	0	0	16851	565	20	2	1127	2	TXLNG	23	16855753	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	220462	16855753	138414807	20534	22680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	219					0	0	1	0	0	T	18209204	C	T	18209204	3	4	22	1	0	0	0	0	1	0	0	0	1396	623	22	2	1248	2	BEND2	23	18209204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1353451	18209204	137061356	20535	22681											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	395					0	0	1	0	0	A	18221838	G	A	18221838	2	1	22	1	0	0	0	0	0	0	0	1	1396	1049	37	1		1	BEND2	23	18221838	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12634	18221838	137048722	20536	22682											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													411	1517					0	0	1	0	0	T	18646512	C	T	18646512	3	4	22	1	0	0	0	0	1	0	0	0	3179	768	27	1	2584	1	CDKL5	23	18646512	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	424674	18646512	136624048	20537	22683											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379996.3_Intron	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													127	425					6.61771e-47	8.13826e-47	1	1	0	A	18662597	C	A	18662597	4	1	22	1	0	0	0	0	0	1	0	0	13745	835	29	2	207	2	RS1	23	18662597	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16085	18662597	136607963	20538	22684											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RS1_ENST00000379984.3_Intron|CDKL5_ENST00000379996.3_Missense_Mutation_p.A1026T	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													31	103					0	0	1	0	0	A	18671647	G	A	18671647	3	1	22	1	0	0	0	0	1	0	0	0	3179	1203	42	2	3154	2	CDKL5	23	18671647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9050	18671647	136598913	20539	22685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000349874.5_Missense_Mutation_p.A362V|PPEF1_ENST00000544635.1_Missense_Mutation_p.A359V|PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000359763.6_Missense_Mutation_p.A371V	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													168	478					0	0	1	0	0	T	18824540	C	T	18824540	3	4	22	1	0	0	0	0	1	0	0	0	12352	797	28	2	1317	2	PPEF1	23	18824540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152893	18824540	136446020	20540	22686											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18843868G>A	ENST00000361511.4	+	18	2159		c.e18-1		PPEF1_ENST00000349874.5_Splice_Site|PPEF1_ENST00000544635.1_Splice_Site|PPEF1_ENST00000543630.1_Splice_Site|PPEF1_ENST00000359763.6_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													49	206					0	0	1	0	0	A	18843868	G	A	18843868	5	1	22	1	0	0	0	0	0	0	1	0	12352	1014	35	2	1723	2	PPEF1	23	18843868	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19328	18843868	136426692	20541	22687											
PHKA2	5256	broad.mit.edu	37	chrX	18911709	18911710	+	Frame_Shift_Ins	INS	-	-	A													cccactcggagcgctgtcatINSaaaagaagtggcagattcct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18911709_18911710insA	ENST00000379942.4	-	33	4266_4267	c.3601_3602insT	c.(3601-3603)tgafs	p.*1201fs	PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1201					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)					AGCGCTGTCATAAAAGAAGTGG	0.525													225	868	---	---	---	---						A	18911710	-	A	18911709	7	5	22	1	0	1	1	0	0	0	0	0	11892	1406	49	0	109	0	PHKA2	23	18911709	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	67841	18911709	136358851	20542	22688											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													171	655					1.82853e-86	2.34462e-86	1	1	0	T	18911732	G	T	18911732	2	4	22	1	0	0	0	0	0	0	0	1	11892	1335	47	2		2	PHKA2	23	18911732	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	18911732	136358828	20543	22689											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19028891C>T	ENST00000379878.3	-	16	1298	c.1057G>A	c.(1057-1059)Gtc>Atc	p.V353I	GPR64_ENST00000379876.1_Missense_Mutation_p.V345I|GPR64_ENST00000379869.3_Missense_Mutation_p.V369I|GPR64_ENST00000357991.3_Missense_Mutation_p.V366I|GPR64_ENST00000356606.4_Missense_Mutation_p.V355I|GPR64_ENST00000340581.3_Missense_Mutation_p.V339I|GPR64_ENST00000357544.3_Missense_Mutation_p.V339I|GPR64_ENST00000379873.2_Missense_Mutation_p.V369I|GPR64_ENST00000360279.4_Missense_Mutation_p.V347I|GPR64_ENST00000354791.3_Missense_Mutation_p.V353I	NM_001184833.1	NP_001171762.1	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													86	301					0	0	1	0	0	T	19028891	C	T	19028891	3	4	22	1	0	0	0	0	1	0	0	0	6745	536	19	1	2000	1	GPR64	23	19028891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117159	19028891	136241669	20544	22690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19086907C>T	ENST00000379878.3	-	3	287	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	GPR64_ENST00000379876.1_Missense_Mutation_p.E16K|GPR64_ENST00000379869.3_Missense_Mutation_p.E16K|GPR64_ENST00000357991.3_Missense_Mutation_p.E16K|GPR64_ENST00000356606.4_Missense_Mutation_p.E16K|GPR64_ENST00000340581.3_Missense_Mutation_p.E16K|GPR64_ENST00000357544.3_Missense_Mutation_p.E16K|GPR64_ENST00000379873.2_Missense_Mutation_p.E16K|GPR64_ENST00000360279.4_Missense_Mutation_p.E16K|GPR64_ENST00000354791.3_Missense_Mutation_p.E16K	NM_001184833.1	NP_001171762.1	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													11	508					0	0	1	0	0	T	19086907	C	T	19086907	3	4	22	1	0	0	0	0	1	0	0	0	6745	922	32	2	3115	2	GPR64	23	19086907	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58016	19086907	136183653	20545	22691											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422285.2_Missense_Mutation_p.R226C|PDHA1_ENST00000545074.1_Missense_Mutation_p.R233C|PDHA1_ENST00000540249.1_Missense_Mutation_p.R195C	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													187	657					0	0	1	0	0	T	19373539	C	T	19373539	3	4	22	1	0	0	0	0	1	0	0	0	11711	884	31	1	841	1	PDHA1	23	19373539	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286632	19373539	135897021	20546	22692											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PDHA1_ENST00000379806.5_3'UTR|PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000545074.1_3'UTR|MAP3K15_ENST00000359173.3_Silent_p.D681D|MAP3K15_ENST00000469203.2_Silent_p.D1078D|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000540249.1_3'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													82	655					0	0	1	0	0	A	19379653	G	A	19379653	2	1	22	1	0	0	0	0	0	0	0	1	9299	1020	36	2		2	MAP3K15	23	19379653	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6114	19379653	135890907	20547	22693											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													139	512					0	0	1	0	0	T	19413252	C	T	19413252	3	4	22	1	0	0	0	0	1	0	0	0	9299	739	26	2	1856	2	MAP3K15	23	19413252	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33599	19413252	135857308	20548	22694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	218					0	0	1	0	0	A	20074873	G	A	20074873	3	1	22	1	0	0	0	0	1	0	0	0	9318	1087	38	1	1964	1	MAP7D2	23	20074873	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	661621	20074873	135195687	20549	22695											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	50					0	0	1	0	0	A	20134917	G	A	20134917	2	1	22	1	0	0	0	0	0	0	0	1	9318	1048	37	1		1	MAP7D2	23	20134917	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60044	20134917	135135643	20550	22696											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379510.3_Missense_Mutation_p.P249H|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P249H|CNKSR2_ENST00000543067.1_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													27	120					5.61819e-17	6.18885e-17	1	1	0	A	21519642	C	A	21519642	3	1	22	1	0	0	0	0	1	0	0	0	3630	681	24	2	776	2	CNKSR2	23	21519642	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1384725	21519642	133750918	20551	22697											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	45					0	0	1	0	0	T	21674239	C	T	21674239	2	4	22	1	0	0	0	0	0	0	0	1	8430	755	27	1		1	KLHL34	23	21674239	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154597	21674239	133596321	20552	22698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	112					0	0	1	0	0	T	21675171	C	T	21675171	3	4	22	1	0	0	0	0	1	0	0	0	8430	768	27	1	1202	1	KLHL34	23	21675171	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	932	21675171	133595389	20553	22699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	252					0	0	1	0	0	G	21755811	A	G	21755811	3	3	22	1	0	0	0	0	1	0	0	0	14864	43	2	3	133	3	SMPX	23	21755811	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	80640	21755811	133514749	20554	22700											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													195	557					0	0	1	0	0	A	22129647	G	A	22129647	3	1	22	1	0	0	0	0	1	0	0	0	11867	1087	38	1	1180	1	PHEX	23	22129647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	373836	22129647	133140913	20555	22701											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_RNA	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													37	138					0	0	1	0	0	G	23020059	T	G	23020059	3	3	22	1	0	0	0	0	1	0	0	0	4394	1841	64	3	1887	3	DDX53	23	23020059	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	890412	23020059	132250501	20556	22702											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													257	963					8.30384e-64	1.04868e-63	1	1	0	A	23398084	C	A	23398084	3	1	22	1	0	0	0	0	1	0	0	0	12781	855	30	2	734	2	PTCHD1	23	23398084	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	378025	23398084	131872476	20557	22703											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000304543.5_Missense_Mutation_p.A18V|ZFX_ENST00000540034.1_Missense_Mutation_p.A18V|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000338565.3_Missense_Mutation_p.A18V|ZFX_ENST00000379188.3_Missense_Mutation_p.A18V	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													46	217					0	0	1	0	0	T	24190912	C	T	24190912	3	4	22	1	0	0	0	0	1	0	0	0	17719	710	25	2	55	2	ZFX	23	24190912	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	792828	24190912	131079648	20558	22704											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379144.2_Missense_Mutation_p.A95T|PCYT1B_ENST00000356768.4_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													26	62					0	0	1	0	0	T	24625913	C	T	24625913	3	4	22	1	0	0	0	0	1	0	0	0	11658	797	28	2	887	2	PCYT1B	23	24625913	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	435001	24625913	130644647	20559	22705											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	44					0	0	1	0	0	A	24732735	G	A	24732735	2	1	22	1	0	0	0	0	0	0	0	1	12235	1045	37	1		1	POLA1	23	24732735	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106822	24732735	130537825	20560	22706											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	265					2.22156e-40	2.69346e-40	1	1	0	T	26212149	G	T	26212149	3	4	22	1	0	0	0	0	1	0	0	0	9229	991	35	2	188	2	MAGEB6	23	26212149	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1479414	26212149	129058411	20561	22707											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													194	628					0	0	1	0	0	A	26212833	G	A	26212833	2	1	22	1	0	0	0	0	0	0	0	1	9229	1074	38	1		1	MAGEB6	23	26212833	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	684	26212833	129057727	20562	22708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	208					0	0	1	0	0	G	27998727	A	G	27998727	3	3	22	1	0	0	0	0	1	0	0	0	4301	275	10	3	1081	3	DCAF8L1	23	27998727	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1785894	27998727	127271833	20563	22709											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:29935582T>C	ENST00000378993.1	+	7	1453	c.778_splice	c.e7-1	p.G260_splice	IL1RAPL1_ENST00000302196.4_Splice_Site_p.G260_splice	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													32	126					0	0	1	0	0	C	29935582	T	C	29935582	5	2	22	1	0	0	0	0	0	0	1	0	7705	1710	59	3	802	3	IL1RAPL1	23	29935582	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1936855	29935582	125334978	20564	22710											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	223					0	0	1	0	0	T	30261225	C	T	30261225	3	4	22	1	0	0	0	0	1	0	0	0	9228	768	27	1	975	1	MAGEB4	23	30261225	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325643	30261225	125009335	20565	22711											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	137					0	0	1	0	0	A	30327309	G	A	30327309	3	1	22	1	0	0	0	0	1	0	0	0	10661	1086	38	1	1248	1	NR0B1	23	30327309	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66084	30327309	124943251	20566	22712											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	288					0	0	1	0	0	T	30577645	C	T	30577645	2	4	22	1	0	0	0	0	0	0	0	1	4124	709	25	2		2	CXorf21	23	30577645	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	250336	30577645	124692915	20567	22713											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427190.1_5'UTR|GK_ENST00000378945.3_Silent_p.V64V|GK_ENST00000378946.3_Silent_p.V64V|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													40	158					0	0	1	0	0	T	30686168	C	T	30686168	2	4	22	1	0	0	0	0	0	0	0	1	6462	900	32	2		2	GK	23	30686168	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108523	30686168	124584392	20568	22714											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378932.2_Missense_Mutation_p.Q276H|TAB3_ENST00000378930.3_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													26	140					4.22769e-11	4.50498e-11	1	1	0	A	30872954	C	A	30872954	3	1	22	1	0	0	0	0	1	0	0	0	15554	796	28	2	1334	2	TAB3	23	30872954	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186786	30872954	124397606	20569	22715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	423					0	0	1	0	0	G	31089968	A	G	31089968	3	3	22	1	0	0	0	0	1	0	0	0	6118	391	14	3	452	3	FTHL17	23	31089968	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	217014	31089968	124180592	20570	22716											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000474231.1_Missense_Mutation_p.N323T|DMD_ENST00000359836.1_Missense_Mutation_p.N323T|DMD_ENST00000378707.3_Missense_Mutation_p.N323T|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000541735.1_Missense_Mutation_p.N323T|DMD_ENST00000343523.2_Missense_Mutation_p.N323T|DMD_ENST00000378677.2_Missense_Mutation_p.N2779T	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	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													77	205					0	0	1	0	0	G	31525440	T	G	31525440	3	3	22	1	0	0	0	0	1	0	0	0	4608	1725	60	3	2919	3	DMD	23	31525440	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	435472	31525440	123745120	20571	22717											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000288447.4_Silent_p.D206D|DMD_ENST00000378677.2_Silent_p.D210D	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	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													68	233					0	0	1	0	0	G	32827617	A	G	32827617	2	3	22	1	0	0	0	0	0	0	0	1	4608	330	12	3		3	DMD	23	32827617	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1302177	32827617	122442943	20572	22718											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000288447.4_Missense_Mutation_p.S154R|DMD_ENST00000378677.2_Missense_Mutation_p.S158R	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	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													123	299					5.38838e-72	6.85269e-72	1	1	0	T	32834629	G	T	32834629	3	4	22	1	0	0	0	0	1	0	0	0	4608	962	34	2	11110	2	DMD	23	32834629	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7012	32834629	122435931	20573	22719											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000288447.4_Missense_Mutation_p.V92I|DMD_ENST00000378677.2_Missense_Mutation_p.V96I	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	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													86	298					0	0	1	0	0	T	32841471	C	T	32841471	3	4	22	1	0	0	0	0	1	0	0	0	4608	536	19	1	11302	1	DMD	23	32841471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6842	32841471	122429089	20574	22720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													106	371					0	0	1	0	0	T	34961295	C	T	34961295	3	4	22	1	0	0	0	0	1	0	0	0	5606	768	27	1	349	1	FAM47B	23	34961295	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2119824	34961295	120309265	20575	22721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	189					0	0	1	0	0	A	34961432	G	A	34961432	3	1	22	1	0	0	0	0	1	0	0	0	5606	1087	38	1	486	1	FAM47B	23	34961432	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137	34961432	120309128	20576	22722											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399985.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399987.1_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													18	65					0	0	1	0	0	C	35820491	A	C	35820491	3	2	22	1	0	0	0	0	1	0	0	0	9224	304	11	3	180	3	MAGEB16	23	35820491	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	859059	35820491	119450069	20577	22723											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399985.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399987.1_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													68	193					0	0	1	0	0	A	35820969	G	A	35820969	3	1	22	1	0	0	0	0	1	0	0	0	9224	1145	40	1	658	1	MAGEB16	23	35820969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	478	35820969	119449591	20578	22724											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	129					1.07121e-22	1.21384e-22	1	1	0	T	35969425	G	T	35969425	3	4	22	1	0	0	0	0	1	0	0	0	4125	962	34	2	852	2	CXorf22	23	35969425	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148456	35969425	119301135	20579	22725											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	296					0	0	1	0	0	A	35989849	G	A	35989849	3	1	22	1	0	0	0	0	1	0	0	0	4125	1000	35	2	2163	2	CXorf22	23	35989849	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20424	35989849	119280711	20580	22726											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	217					0	0	1	0	0	A	35993429	G	A	35993429	3	1	22	1	0	0	0	0	1	0	0	0	4125	1029	36	2	2474	2	CXorf22	23	35993429	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3580	35993429	119277131	20581	22727											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													174	493					0	0	1	0	0	T	37028071	C	T	37028071	2	4	22	1	0	0	0	0	0	0	0	1	5607	912	32	2		2	FAM47C	23	37028071	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1034642	37028071	118242489	20582	22728											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SYTL5_ENST00000456733.2_Missense_Mutation_p.H178Y|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_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													5	39					0	0	1	0	0	T	37932929	C	T	37932929	3	4	22	1	0	0	0	0	1	0	0	0	15543	594	21	2	546	2	SYTL5	23	37932929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	904858	37932929	117337631	20583	22729											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SYTL5_ENST00000456733.2_Missense_Mutation_p.D521A|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.D499A			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													101	283					0	0	1	0	0	C	37969635	A	C	37969635	3	2	22	1	0	0	0	0	1	0	0	0	15543	333	12	3	1612	3	SYTL5	23	37969635	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36706	37969635	117300925	20584	22730											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538295.1_Silent_p.G223G|SRPX_ENST00000343800.6_Silent_p.G210G|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_Silent_p.G164G|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													36	296					0	0	1	0	0	A	38020292	G	A	38020292	2	1	22	1	0	0	0	0	0	0	0	1	15220	1190	42	2		2	SRPX	23	38020292	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50657	38020292	117250268	20585	22731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	196					0	0	1	0	0	T	38664233	C	T	38664233	3	4	22	1	0	0	0	0	1	0	0	0	9625	710	25	2	36	2	MID1IP1	23	38664233	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	643941	38664233	116606327	20586	22732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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						28	208					4.87955e-14	5.28594e-14	1	1	0	T	39931785	G	T	39931785	2	4	22	1	0	0	0	0	0	0	0	1	1384	987	35	2		2	BCOR	23	39931785	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1267552	39931785	115338775	20587	22733											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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						71	228					0	0	1	0	0	A	39937186	G	A	39937186	1	1	22	1	0	0	0	0	0	0	0	0	1384	1160	40	1		1	BCOR	23	39937186	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5401	39937186	115333374	20588	22734											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	112					0	0	1	0	0	T	40522271	C	T	40522271	3	4	22	1	0	0	0	0	1	0	0	0	9482	739	26	2	798	2	MED14	23	40522271	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	585085	40522271	114748289	20589	22735											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	172					0	0	1	0	0	T	40586068	C	T	40586068	3	4	22	1	0	0	0	0	1	0	0	0	9482	768	27	1	4202	1	MED14	23	40586068	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63797	40586068	114684492	20590	22736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41000309A>G	ENST00000324545.7	+	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	287					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													22	84					0	0	1	0	0	G	41000309	A	G	41000309	2	3	22	1	0	0	0	0	0	0	0	1	17150	11	1	3		3	USP9X	23	41000309	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	414241	41000309	114270251	20591	22737											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41031200T>G	ENST00000324545.7	+	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	1046					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													14	502					0	0	1	0	0	G	41031200	T	G	41031200	3	3	22	1	0	0	0	0	1	0	0	0	17150	1609	56	3	3215	3	USP9X	23	41031200	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30891	41031200	114239360	20592	22738											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41075627G>A	ENST00000324545.7	+	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	1936					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													144	521					0	0	1	0	0	A	41075627	G	A	41075627	3	1	22	1	0	0	0	0	1	0	0	0	17150	1145	40	1	5941	1	USP9X	23	41075627	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44427	41075627	114194933	20593	22739											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542215.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.T353A|DDX3X_ENST00000478993.1_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)			143	439					0	0	1	0	0	G	41204512	A	G	41204512	3	3	22	1	0	0	0	0	1	0	0	0	4381	391	14	3	1147	3	DDX3X	23	41204512	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	128885	41204512	114066048	20594	22740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	264					0	0	1	0	0	A	41333654	G	A	41333654	2	1	22	1	0	0	0	0	0	0	0	1	10845	1306	46	2		2	NYX	23	41333654	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129142	41333654	113936906	20595	22741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378163.1_Silent_p.G470G|CASK_ENST00000378158.1_Silent_p.G470G|CASK_ENST00000472704.1_5'UTR|CASK_ENST00000378154.1_Silent_p.G470G|CASK_ENST00000378166.4_Silent_p.G470G|CASK_ENST00000421587.2_Silent_p.G464G|CASK_ENST00000361962.4_Silent_p.G470G|CASK_ENST00000442742.2_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													30	254					0	0	1	0	0	A	41437686	G	A	41437686	2	1	22	1	0	0	0	0	0	0	0	1	2683	1074	38	1		1	CASK	23	41437686	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104032	41437686	113832874	20596	22742											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													95	339					0	0	1	0	0	C	43817734	T	C	43817734	3	2	22	1	0	0	0	0	1	0	0	0	10297	1638	57	3	251	3	NDP	23	43817734	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2380048	43817734	111452826	20597	22743											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	255					0	0	1	0	0	A	45059910	G	A	45059910	2	1	22	1	0	0	0	0	0	0	0	1	4129	1165	41	2		2	CXorf36	23	45059910	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1242176	45059910	110210650	20598	22744											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	83					2.19358e-23	2.49351e-23	1	1	0	T	46480434	G	T	46480434	3	4	22	1	0	0	0	0	1	0	0	0	14774	962	34	2	391	2	SLC9A7	23	46480434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1420524	46480434	108790126	20599	22745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Missense_Mutation_p.R319H|RBM10_ENST00000329236.7_Missense_Mutation_p.R318H	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													27	104					0	0	1	0	0	A	47039844	G	A	47039844	3	1	22	1	0	0	0	0	1	0	0	0	13163	1087	38	1	1229	1	RBM10	23	47039844	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	559410	47039844	108230716	20600	22746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													151	544					0	0	1	0	0	A	47058959	G	A	47058959	2	1	22	1	0	0	0	0	0	0	0	1	16888	1306	46	2		2	UBA1	23	47058959	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19115	47058959	108211601	20601	22747											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	73					0	0	1	0	0	C	47065399	T	C	47065399	3	2	22	1	0	0	0	0	1	0	0	0	16888	1435	50	3	1682	3	UBA1	23	47065399	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6440	47065399	108205161	20602	22748											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47103898C>T	ENST00000377107.2	+	14	2146	c.1790_splice	c.e14-1	p.R598_splice	USP11_ENST00000218348.3_Splice_Site_p.R641_splice			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													37	173					0	0	1	0	0	T	47103898	C	T	47103898	5	4	22	1	0	0	0	0	0	0	1	0	17102	550	19	1	1975	1	USP11	23	47103898	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38499	47103898	108166662	20603	22749											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	179					1.15505e-17	1.27701e-17	1	1	0	A	47103933	C	A	47103933	3	1	22	1	0	0	0	0	1	0	0	0	17102	535	19	4	2010	4	USP11	23	47103933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	47103933	108166627	20604	22750											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397050.2_Missense_Mutation_p.H551Y|ZNF41_ENST00000313116.7_Missense_Mutation_p.H541Y	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													80	307					0	0	1	0	0	A	47307548	G	A	47307548	3	1	22	1	0	0	0	0	1	0	0	0	17946	1377	48	2	722	2	ZNF41	23	47307548	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203615	47307548	107963012	20605	22751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397050.2_Missense_Mutation_p.E418A|ZNF41_ENST00000313116.7_Missense_Mutation_p.E408A	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													128	423					0	0	1	0	0	G	47307946	T	G	47307946	3	3	22	1	0	0	0	0	1	0	0	0	17946	1551	54	3	1120	3	ZNF41	23	47307946	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	398	47307946	107962614	20606	22752											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	57					0	0	1	0	0	A	47429401	G	A	47429401	3	1	22	1	0	0	0	0	1	0	0	0	834	971	34	2	1579	2	ARAF	23	47429401	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121455	47429401	107841159	20607	22753											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	65					0	0	1	0	0	A	47487033	G	A	47487033	2	1	22	1	0	0	0	0	0	0	0	1	3315	1074	38	1		1	CFP	23	47487033	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57632	47487033	107783527	20608	22754											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	269					0	0	1	0	0	A	47775190	G	A	47775190	3	1	22	1	0	0	0	0	1	0	0	0	18222	1174	41	2	1159	2	ZNF81	23	47775190	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	288157	47775190	107495370	20609	22755											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48317422T>C	ENST00000376876.3	-	16	2161		c.e16-2		SLC38A5_ENST00000376875.1_Splice_Site|SLC38A5_ENST00000317669.5_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													7	26					0	0	1	0	0	C	48317422	T	C	48317422	5	2	22	1	0	0	0	0	0	0	1	0	14662	1594	55	3	106	3	SLC38A5	23	48317422	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	542232	48317422	106953138	20610	22756											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348411.2_Missense_Mutation_p.L136F|FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000396894.4_Intron|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													34	107					0	0	1	0	0	T	48339583	C	T	48339583	3	4	22	1	0	0	0	0	1	0	0	0	6122	681	24	2	424	2	FTSJ1	23	48339583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22161	48339583	106930977	20611	22757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348411.2_Missense_Mutation_p.S242I|FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000396894.4_Missense_Mutation_p.S105I|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													40	116					1.04594e-18	1.16214e-18	1	1	0	T	48340860	G	T	48340860	3	4	22	1	0	0	0	0	1	0	0	0	6122	971	34	2	759	2	FTSJ1	23	48340860	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1277	48340860	106929700	20612	22758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355092.3_Silent_p.V180V|PORCN_ENST00000537758.1_Silent_p.V180V|PORCN_ENST00000361988.3_Silent_p.V180V|PORCN_ENST00000359882.4_Silent_p.V180V|PORCN_ENST00000326194.6_Silent_p.V180V|PORCN_ENST00000355961.4_Silent_p.V180V			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													19	59					0	0	1	0	0	T	48370880	C	T	48370880	2	4	22	1	0	0	0	0	0	0	0	1	12306	842	30	2		2	PORCN	23	48370880	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30020	48370880	106899680	20613	22759											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427713.1_3'UTR|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													19	72					0	0	1	0	0	T	48418517	C	T	48418517	2	4	22	1	0	0	0	0	0	0	0	1	15672	518	18	2		2	TBC1D25	23	48418517	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47637	48418517	106852043	20614	22760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427713.1_3'UTR|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													16	522					9.16793e-09	9.60025e-09	1	1	0	T	48419054	G	T	48419054	3	4	22	1	0	0	0	0	1	0	0	0	15672	991	35	2	1780	2	TBC1D25	23	48419054	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	537	48419054	106851506	20615	22761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	137					0	0	1	0	0	T	48674663	C	T	48674663	3	4	22	1	0	0	0	0	1	0	0	0	7052	797	28	2	1675	2	HDAC6	23	48674663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255609	48674663	106595897	20616	22762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000445167.2_Missense_Mutation_p.A88T|SLC35A2_ENST00000452555.2_Missense_Mutation_p.A116T|SLC35A2_ENST00000376512.1_Missense_Mutation_p.A88T|SLC35A2_ENST00000247138.5_Missense_Mutation_p.A88T|SLC35A2_ENST00000376515.3_Missense_Mutation_p.A64T|SLC35A2_ENST00000376529.3_Missense_Mutation_p.A88T|SLC35A2_ENST00000413561.2_Intron	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													22	64					0	0	1	0	0	T	48767103	C	T	48767103	3	4	22	1	0	0	0	0	1	0	0	0	14626	768	27	1	1100	1	SLC35A2	23	48767103	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92440	48767103	106503457	20617	22763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	92					0	0	1	0	0	A	48823034	G	A	48823034	3	1	22	1	0	0	0	0	1	0	0	0	8062	1203	42	2	537	2	KCND1	23	48823034	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55931	48823034	106447526	20618	22764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376441.1_Silent_p.E421E|GRIPAP1_ENST00000376444.3_Silent_p.E376E|GRIPAP1_ENST00000376425.3_Silent_p.E390E	NM_207672.1	NP_997555.1	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													97	394					0	0	1	0	0	T	48840196	C	T	48840196	2	4	22	1	0	0	0	0	0	0	0	1	6830	680	24	2		2	GRIPAP1	23	48840196	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17162	48840196	106430364	20619	22765											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TFE3_ENST00000493583.1_5'UTR	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"								22	308					3.62473e-10	3.83521e-10	1	1	0	T	48888050	G	T	48888050	2	4	22	1	0	0	0	0	0	0	0	1	15860	987	35	2		2	TFE3	23	48888050	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47854	48888050	106382510	20620	22766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	118					0	0	1	0	0	T	48972297	C	T	48972297	3	4	22	1	0	0	0	0	1	0	0	0	6653	536	19	1	358	1	GPKOW	23	48972297	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84247	48972297	106298263	20621	22767											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	212					0	0	1	0	0	C	48973491	A	C	48973491	3	2	22	1	0	0	0	0	1	0	0	0	6653	43	2	3	648	3	GPKOW	23	48973491	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1194	48973491	106297069	20622	22768											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	28					0	0	1	0	0	A	49019191	G	A	49019191	1	1	22	1	0	0	0	0	0	0	0	0	9243	1102	38	1		1	MAGIX	23	49019191	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45700	49019191	106251369	20623	22769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498742.1_Intron|MAGIX_ENST00000376339.1_Missense_Mutation_p.R23M|MAGIX_ENST00000412696.2_Intron|MAGIX_ENST00000425661.2_Intron			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	0																	TCCTGCCTCAGGGCAAACTAT	0.542													14	679					4.3838e-07	4.54049e-07	1	1	0	T	49021166	G	T	49021166	3	4	22	1	0	0	0	0	1	0	0	0	9243	1015	35	2		2	MAGIX	23	49021166	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1975	49021166	106249394	20624	22770											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498742.1_3'UTR|MAGIX_ENST00000376339.1_Missense_Mutation_p.S170I|MAGIX_ENST00000412696.2_Missense_Mutation_p.S234I|MAGIX_ENST00000425661.2_Missense_Mutation_p.S158I			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	234	PDZ.																CCAGATCGCAGCCCAGATCCT	0.607													60	233					6.05568e-20	6.7715e-20	1	1	0	T	49022434	G	T	49022434	3	4	22	1	0	0	0	0	1	0	0	0	9243	971	34	2	763	2	MAGIX	23	49022434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1268	49022434	106248126	20625	22771											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	110					0	0	1	0	0	T	49071930	C	T	49071930	3	4	22	1	0	0	0	0	1	0	0	0	2561	565	20	2	2674	2	CACNA1F	23	49071930	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49496	49071930	106198630	20626	22772											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	51					1.12685e-05	1.15515e-05	1	1	0	T	49079532	G	T	49079532	2	4	22	1	0	0	0	0	0	0	0	1	2561	987	35	2		2	CACNA1F	23	49079532	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7602	49079532	106191028	20627	22773											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	40					0	0	1	0	0	A	49088333	G	A	49088333	2	1	22	1	0	0	0	0	0	0	0	1	2561	962	34	2		2	CACNA1F	23	49088333	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8801	49088333	106182227	20628	22774											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376064.3_Missense_Mutation_p.N754T|AKAP4_ENST00000358526.2_Missense_Mutation_p.N763T|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													21	60					0	0	1	0	0	G	49957076	T	G	49957076	3	3	22	1	0	0	0	0	1	0	0	0	450	1493	52	3	284	3	AKAP4	23	49957076	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	868743	49957076	105313484	20629	22775											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376064.3_Silent_p.I620I|AKAP4_ENST00000358526.2_Silent_p.I629I|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													162	616					0	0	1	0	0	A	49957477	G	A	49957477	2	1	22	1	0	0	0	0	0	0	0	1	450	1048	37	1		1	AKAP4	23	49957477	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	401	49957477	105313083	20630	22776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	42					0	0	1	0	0	A	50144087	G	A	50144087	1	1	22	0	1	0	0	0	0	0	0	0	4500	1194	42	2		2	DGKK	23	50144087	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	186610	50144087	105126473	20631	22777											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	35					1.5842e-08	1.65642e-08	1	1	0	T	50144126	G	T	50144126	1	4	22	0	1	0	0	0	0	0	0	0	4500	1020	36	2		2	DGKK	23	50144126	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	50144126	105126434	20632	22778											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	225					0	0	1	0	0	T	50350432	C	T	50350432	3	4	22	1	0	0	0	0	1	0	0	0	14351	739	26	2	787	2	SHROOM4	23	50350432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206306	50350432	104920128	20633	22779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	301					1.51503e-27	1.75539e-27	1	1	0	T	50376791	G	T	50376791	3	4	22	1	0	0	0	0	1	0	0	0	14351	971	34	2	2223	2	SHROOM4	23	50376791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26359	50376791	104893769	20634	22780											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	414					0	0	1	0	0	T	50377526	C	T	50377526	3	4	22	1	0	0	0	0	1	0	0	0	14351	797	28	2	2958	2	SHROOM4	23	50377526	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	735	50377526	104893034	20635	22781											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	545					0	0	1	0	0	G	50659581	A	G	50659581	3	3	22	1	0	0	0	0	1	0	0	0	1457	333	12	3	1159	3	BMP15	23	50659581	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	282055	50659581	104610979	20636	22782											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			7	137					0	0	1	0	0	A	51239242	G	A	51239242	3	1	22	1	0	0	0	0	1	0	0	0	10775	1086	38	1	447	1	NUDT11	23	51239242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	579661	51239242	104031318	20637	22783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													155	524					0	0	1	0	0	A	52681355	G	A	52681355	3	1	22	1	0	0	0	0	1	0	0	0	15265	1203	42	2	355	2	SSX7	23	52681355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1442113	52681355	102589205	20638	22784											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	148					4.32679e-17	4.76816e-17	1	1	0	A	53106692	C	A	53106692	3	1	22	1	0	0	0	0	1	0	0	0	6711	797	28	2	891	2	GPR173	23	53106692	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	425337	53106692	102163868	20639	22785											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375383.3_Missense_Mutation_p.Q196H|KDM5C_ENST00000375379.3_Missense_Mutation_p.Q237H|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								107	364					1.90623e-60	2.39773e-60	1	1	0	A	53245326	C	A	53245326	3	1	22	1	0	0	0	0	1	0	0	0	8178	912	32	2	4153	2	KDM5C	23	53245326	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138634	53245326	102025234	20640	22786											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|SMC1A_ENST00000463684.1_5'UTR	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													37	111					0	0	1	0	0	A	53439881	G	A	53439881	3	1	22	1	0	0	0	0	1	0	0	0	14835	1086	38	1	2962	1	SMC1A	23	53439881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194555	53439881	101830679	20641	22787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	141					0	0	1	0	0	A	53456828	G	A	53456828	3	1	22	1	0	0	0	0	1	0	0	0	13402	1087	38	1	620	1	RIBC1	23	53456828	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16947	53456828	101813732	20642	22788											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	70					0	0	1	0	0	A	53575044	T	A	53575044	3	1	22	1	0	0	0	0	1	0	0	0	7505	1609	56	5	2966	5	HUWE1	23	53575044	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	118216	53575044	101695516	20643	22789											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													142	435					0	0	1	0	0	C	53579602	T	C	53579602	3	2	22	1	0	0	0	0	1	0	0	0	7505	1667	58	3	4469	3	HUWE1	23	53579602	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4558	53579602	101690958	20644	22790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000262854.6_Missense_Mutation_p.L852F|HUWE1_ENST00000218328.8_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													7	224					0	0	1	0	0	A	53631738	G	A	53631738	3	1	22	1	0	0	0	0	1	0	0	0	7505	1000	35	2	10806	2	HUWE1	23	53631738	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52136	53631738	101638822	20645	22791											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000262854.6_Silent_p.D59D|HUWE1_ENST00000218328.8_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													127	419					0	0	1	0	0	A	53674485	G	A	53674485	2	1	22	1	0	0	0	0	0	0	0	1	7505	1252	44	2		2	HUWE1	23	53674485	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42747	53674485	101596075	20646	22792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	229					0	0	1	0	0	T	54185844	C	T	54185844	3	4	22	1	0	0	0	0	1	0	0	0	5449	739	26	2	2445	2	FAM120C	23	54185844	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	511359	54185844	101084716	20647	22793											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	84					0	0	1	0	0	G	54473856	A	G	54473856	3	3	22	1	0	0	0	0	1	0	0	0	5865	275	10	3	425	3	FGD1	23	54473856	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	288012	54473856	100796704	20648	22794											
FGD1	2245	broad.mit.edu	37	chrX	54496518	54496518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcttcctcctcctcctcGtcgtcctcctcctccaggtc	4	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54496518G>A	ENST00000375135.3	-	4	1765	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	344					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	p.D344D(1)		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						cctcctcctcgtcgtcctcct	0.632													35	102					0	0	1	0	0	A	54496518	G	A	54496518	2	1	22	1	0	0	0	0	0	0	0	1	5865	1136	40	1		1	FGD1	23	54496518	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22662	54496518	100774042	20649	22795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	85					0	0	1	0	0	A	54496845	G	A	54496845	2	1	22	1	0	0	0	0	0	0	0	1	5865	1194	42	2		2	FGD1	23	54496845	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	327	54496845	100773715	20650	22796											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396224.1_Missense_Mutation_p.R216M|MAGED2_ENST00000347546.3_Missense_Mutation_p.R160M|MAGED2_ENST00000343474.6_Missense_Mutation_p.R198M|MAGED2_ENST00000375058.1_Missense_Mutation_p.R216M|MAGED2_ENST00000375062.4_Intron|MAGED2_ENST00000218439.4_Missense_Mutation_p.R216M|MAGED2_ENST00000375053.2_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													15	81					3.27435e-08	3.41456e-08	1	1	0	T	54837363	G	T	54837363	3	4	22	1	0	0	0	0	1	0	0	0	9234	1000	35	2	657	2	MAGED2	23	54837363	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	340518	54837363	100433197	20651	22797											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375022.4_Missense_Mutation_p.K622T|TRO_ENST00000319167.8_Missense_Mutation_p.K622T|TRO_ENST00000399736.1_Missense_Mutation_p.K225T|TRO_ENST00000375041.2_Missense_Mutation_p.K225T|TRO_ENST00000420798.2_Missense_Mutation_p.K153T	NM_001039705.1	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													27	136					0	0	1	0	0	C	54954201	A	C	54954201	3	2	22	1	0	0	0	0	1	0	0	0	16635	72	3	3	1903	3	TRO	23	54954201	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	116838	54954201	100316359	20652	22798											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.D287N|TRO_ENST00000420798.2_Missense_Mutation_p.D215N	NM_001039705.1	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													37	141					0	0	1	0	0	A	54955207	G	A	54955207	3	1	22	1	0	0	0	0	1	0	0	0	16635	1174	41	2	2092	2	TRO	23	54955207	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1006	54955207	100315353	20653	22799											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G1030D|TRO_ENST00000420798.2_Missense_Mutation_p.G958D	NM_001039705.1	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													41	136					0	0	1	0	0	A	54957437	G	A	54957437	3	1	22	1	0	0	0	0	1	0	0	0	16635	1203	42	2	4322	2	TRO	23	54957437	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2230	54957437	100313123	20654	22800											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	174					1.19403e-26	1.3775e-26	1	1	0	A	54959869	C	A	54959869	3	1	22	1	0	0	0	0	1	0	0	0	11808	680	24	2	36	2	PFKFB1	23	54959869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2432	54959869	100310691	20655	22801											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	106					0	0	1	0	0	A	54978518	G	A	54978518	2	1	22	1	0	0	0	0	0	0	0	1	11808	1136	40	1		1	PFKFB1	23	54978518	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18649	54978518	100292042	20656	22802											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498636.1_5'UTR|ALAS2_ENST00000335854.4_Missense_Mutation_p.G507E	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													15	50					0	0	1	0	0	T	55035746	C	T	55035746	3	4	22	1	0	0	0	0	1	0	0	0	482	623	22	2	136	2	ALAS2	23	55035746	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57228	55035746	100234814	20657	22803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	176					0	0	1	0	0	A	55748704	G	A	55748704	3	1	22	1	0	0	0	0	1	0	0	0	13725	1087	38	1	222	1	RRAGB	23	55748704	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	712958	55748704	99521856	20658	22804											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													171	655					0	0	1	0	0	A	57021054	G	A	57021054	2	1	22	1	0	0	0	0	0	0	0	1	15111	1161	41	2		2	SPIN3	23	57021054	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1272350	57021054	98249506	20659	22805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			95	312					0	0	1	0	0	A	57318998	G	A	57318998	3	1	22	1	0	0	0	0	1	0	0	0	5385	1174	41	2	266	2	FAAH2	23	57318998	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	297944	57318998	97951562	20660	22806											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000433323.2_5'UTR|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R123H|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R204H	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													15	55					0	0	1	0	0	T	62898340	C	T	62898340	3	4	22	1	0	0	0	0	1	0	0	0	909	768	27	1	900	1	ARHGEF9	23	62898340	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5579342	62898340	92372220	20661	22807											
ZC3H12B	340554	broad.mit.edu	37	chrX	64722292	64722293	+	Frame_Shift_Ins	INS	-	-	G													ttacatggctgaagtagaccINSggggggtgtatgcccggaat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:64722292_64722293insG	ENST00000338957.4	+	5	1781_1782	c.1714_1715insG	c.(1714-1716)gggfs	p.G572fs	ZC3H12B_ENST00000423889.3_Frame_Shift_Ins_p.G561fs	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	561							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						TGAAGTAGACCGGGGGGTGTAT	0.47													25	117	---	---	---	---						G	64722293	-	G	64722292	7	5	22	1	0	1	1	0	0	0	0	0	17621	643	23	0	1732	0	ZC3H12B	23	64722292	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	1823952	64722292	90548268	20662	22808											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	148					0	0	1	0	0	T	64722815	C	T	64722815	3	4	22	1	0	0	0	0	1	0	0	0	17621	623	22	2	2255	2	ZC3H12B	23	64722815	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	523	64722815	90547745	20663	22809											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	730					0	0	1	0	0	G	65253408	T	G	65253408	3	3	22	1	0	0	0	0	1	0	0	0	17285	1667	58	3	911	3	VSIG4	23	65253408	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	530593	65253408	90017152	20664	22810											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374727.3_Nonsense_Mutation_p.W647*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.W644*|HEPH_ENST00000336279.5_Nonsense_Mutation_p.W377*|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000441993.2_Nonsense_Mutation_p.W647*			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													4	105					0	0	1	0	0	A	65420449	G	A	65420449	4	1	22	1	0	0	0	0	0	1	0	0	7095	1212	42	2	2140	2	HEPH	23	65420449	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	167041	65420449	89850111	20665	22811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374727.3_Missense_Mutation_p.V668A|HEPH_ENST00000343002.2_Missense_Mutation_p.V665A|HEPH_ENST00000336279.5_Missense_Mutation_p.V398A|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000441993.2_Missense_Mutation_p.V668A			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													36	142					0	0	1	0	0	C	65420511	T	C	65420511	3	2	22	1	0	0	0	0	1	0	0	0	7095	1696	59	3	2202	3	HEPH	23	65420511	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	62	65420511	89850049	20666	22812											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374727.3_Missense_Mutation_p.E1093K|HEPH_ENST00000343002.2_Missense_Mutation_p.E1090K|HEPH_ENST00000336279.5_Missense_Mutation_p.E823K|HEPH_ENST00000419594.1_Missense_Mutation_p.E901K|HEPH_ENST00000441993.2_Missense_Mutation_p.E1092K			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													49	178					0	0	1	0	0	A	65486305	G	A	65486305	3	1	22	1	0	0	0	0	1	0	0	0	7095	943	33	2	3512	2	HEPH	23	65486305	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65794	65486305	89784255	20667	22813											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396043.2_Nonsense_Mutation_p.R221*|AR_ENST00000396044.3_Intron	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				50	136					0	0	1	0	0	T	66937403	C	T	66937403	4	4	22	1	0	0	0	0	0	1	0	0	833	760	27	1	2299	1	AR	23	66937403	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1451098	66937403	88333157	20668	22814											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	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													39	177					1.49673e-21	1.68722e-21	1	1	0	A	67283811	C	A	67283811	2	1	22	1	0	0	0	0	0	0	0	1	10923	842	30	2		2	OPHN1	23	67283811	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	346408	67283811	87986749	20669	22815											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374597.3_Missense_Mutation_p.D332G|STARD8_ENST00000374599.3_Missense_Mutation_p.D412G	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													45	125					0	0	1	0	0	G	67937991	A	G	67937991	3	3	22	1	0	0	0	0	1	0	0	0	15319	275	10	3	1257	3	STARD8	23	67937991	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	654180	67937991	87332569	20670	22816											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374597.3_Missense_Mutation_p.S362T|STARD8_ENST00000374599.3_Missense_Mutation_p.S442T	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													12	159					0	0	1	0	0	C	67938081	G	C	67938081	3	2	22	1	0	0	0	0	1	0	0	0	15319	971	34	5	1347	5	STARD8	23	67938081	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90	67938081	87332479	20671	22817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374597.3_Missense_Mutation_p.A402D|STARD8_ENST00000374599.3_Missense_Mutation_p.A482D	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													16	105					2.62699e-14	2.8508e-14	1	1	0	A	67938201	C	A	67938201	3	1	22	1	0	0	0	0	1	0	0	0	15319	797	28	2	1467	2	STARD8	23	67938201	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120	67938201	87332359	20672	22818											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	152					0	0	1	0	0	T	68060137	C	T	68060137	2	4	22	1	0	0	0	0	0	0	0	1	4981	767	27	1		1	EFNB1	23	68060137	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121936	68060137	87210423	20673	22819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374583.1_Missense_Mutation_p.Q206H|PJA1_ENST00000374571.4_Missense_Mutation_p.Q151H|PJA1_ENST00000374584.3_Intron	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													11	160					1.08611e-07	1.12939e-07	1	1	0	A	68382464	C	A	68382464	3	1	22	1	0	0	0	0	1	0	0	0	12009	564	20	2	1317	2	PJA1	23	68382464	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	322327	68382464	86888096	20674	22820											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374583.1_Nonsense_Mutation_p.R136*|PJA1_ENST00000374571.4_Nonsense_Mutation_p.R81*|PJA1_ENST00000374584.3_Intron	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													52	167					0	0	1	0	0	A	68382676	G	A	68382676	4	1	22	1	0	0	0	0	0	1	0	0	12009	1095	38	1	1529	1	PJA1	23	68382676	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	212	68382676	86887884	20675	22821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374583.1_Missense_Mutation_p.A114V|PJA1_ENST00000374571.4_Missense_Mutation_p.A59V|PJA1_ENST00000374584.3_Intron	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													47	322					0	0	1	0	0	A	68382741	G	A	68382741	3	1	22	1	0	0	0	0	1	0	0	0	12009	1203	42	2	1594	2	PJA1	23	68382741	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65	68382741	86887819	20676	22822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	40					0	0	1	0	0	A	68725452	G	A	68725452	2	1	22	1	0	0	0	0	0	0	0	1	5496	1074	38	1		1	FAM155B	23	68725452	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	342711	68725452	86545108	20677	22823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527388.1_Missense_Mutation_p.S22N|EDA_ENST00000374553.2_Missense_Mutation_p.S22N|EDA_ENST00000525810.1_Missense_Mutation_p.S22N|EDA_ENST00000524573.1_Missense_Mutation_p.S22N|EDA_ENST00000502251.1_3'UTR|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													13	158					0	0	1	0	0	A	68836217	G	A	68836217	3	1	22	1	0	0	0	0	1	0	0	0	4929	971	34	2	67	2	EDA	23	68836217	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110765	68836217	86434343	20678	22824											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	178					0	0	1	0	0	T	69420280	C	T	69420280	3	4	22	1	0	0	0	0	1	0	0	0	4487	594	21	2	457	2	DGAT2L6	23	69420280	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	584063	69420280	85850280	20679	22825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	116					2.65835e-16	2.91905e-16	1	1	0	A	69497300	C	A	69497300	3	1	22	1	0	0	0	0	1	0	0	0	978	681	24	2	560	2	ARR3	23	69497300	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77020	69497300	85773260	20680	22826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	137					0	0	1	0	0	A	69596055	G	A	69596055	3	1	22	1	0	0	0	0	1	0	0	0	8345	943	33	2	2095	2	KIF4A	23	69596055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98755	69596055	85674505	20681	22827											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461646.1_3'UTR|DLG3_ENST00000542398.1_Silent_p.I241I|DLG3_ENST00000374360.3_Silent_p.I692I|DLG3_ENST00000374355.3_Silent_p.I387I			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													37	118					0	0	1	0	0	T	69719830	C	T	69719830	2	4	22	1	0	0	0	0	0	0	0	1	4584	874	31	1		1	DLG3	23	69719830	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123775	69719830	85550730	20682	22828											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344304.3_Missense_Mutation_p.V875I|TEX11_ENST00000374320.2_Missense_Mutation_p.V550I|TEX11_ENST00000374333.2_Missense_Mutation_p.V860I	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													100	314					0	0	1	0	0	T	69749792	C	T	69749792	3	4	22	1	0	0	0	0	1	0	0	0	15833	565	20	2	207	2	TEX11	23	69749792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29962	69749792	85520768	20683	22829											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344304.3_Missense_Mutation_p.A591T|TEX11_ENST00000374320.2_Missense_Mutation_p.A266T|TEX11_ENST00000374333.2_Missense_Mutation_p.A576T	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													66	254					0	0	1	0	0	T	69843825	C	T	69843825	3	4	22	1	0	0	0	0	1	0	0	0	15833	710	25	2	1095	2	TEX11	23	69843825	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94033	69843825	85426735	20684	22830											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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						160	461					5.55526e-70	7.05424e-70	1	1	0	A	70348222	C	A	70348222	3	1	22	1	0	0	0	0	1	0	0	0	9478	797	28	2	3376	2	MED12	23	70348222	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	504397	70348222	84922338	20685	22831											
MED12	9968	broad.mit.edu	37	chrX	70356862	70356862	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cataggcctgtacacccagaAccagccactacctgcaggtg	9	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70356862A>C	ENST00000333646.6	+	38	5733	c.5534A>C	c.(5533-5535)aAc>aCc	p.N1845T	MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374080.3_Missense_Mutation_p.N1845T|MED12_ENST00000374102.1_Missense_Mutation_p.N1845T	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1845	Interaction with CTNNB1 and GLI3.				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)					TACACCCAGAACCAGCCACTA	0.567			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	48					0	0	1	0	0	C	70356862	A	C	70356862	3	2	22	1	0	0	0	0	1	0	0	0	9478	43	2	3	5684	3	MED12	23	70356862	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8640	70356862	84913698	20686	22832											
MED12	9968	broad.mit.edu	37	chrX	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-													cagcagcagtaccacatccgGcagcagcagcagcagcagat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70360680_70360682delGCA	ENST00000333646.6	+	42	6448_6450	c.6249_6251delGCA	c.(6247-6252)cgg>cg	p.RQ2083del	MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	2080	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)					accacatccggcagcagcagcag	0.586			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	265	---	---	---	---						-	70360682	GCA	-	70360680	7	5	22	1	0	1	0	1	0	0	0	0	9478	1190	42	0	6406	0	MED12	23	70360680	In_Frame_Del	DEL	GCA	TCGA-IB-7651-01A-11D-2154-08	3818	70360680	84909880	20687	22833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536169.1_Missense_Mutation_p.G158D|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Missense_Mutation_p.G198D	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													6	208					0	0	1	0	0	A	70375079	G	A	70375079	3	1	22	1	0	0	0	0	1	0	0	0	10510	1261	44	2	607	2	NLGN3	23	70375079	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14399	70375079	84895481	20688	22834											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.K233T|ZMYM3_ENST00000373978.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373981.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000353904.2_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													6	25					0	0	1	0	0	G	70471421	T	G	70471421	3	3	22	1	0	0	0	0	1	0	0	0	17759	1609	56	3	3524	3	ZMYM3	23	70471421	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96342	70471421	84799139	20689	22835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000276072.3_Missense_Mutation_p.N45S|TAF1_ENST00000423759.1_Missense_Mutation_p.N45S|TAF1_ENST00000373790.4_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													44	147					0	0	1	0	0	G	70586298	A	G	70586298	3	3	22	1	0	0	0	0	1	0	0	0	15570	43	2	3	136	3	TAF1	23	70586298	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	114877	70586298	84684262	20690	22836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000276072.3_Missense_Mutation_p.K167N|TAF1_ENST00000423759.1_Missense_Mutation_p.K167N|TAF1_ENST00000373790.4_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													61	258					1.22119e-34	1.45331e-34	1	1	0	T	70595105	G	T	70595105	3	4	22	1	0	0	0	0	1	0	0	0	15570	933	33	2	515	2	TAF1	23	70595105	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8807	70595105	84675455	20691	22837											
TAF1	6872	broad.mit.edu	37	chrX	70603000	70603000	+	Frame_Shift_Del	DEL	A	A	-													aacctttgctaaagcacatcAaaaaaaaggccaaggtataa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70603000delA	ENST00000449580.1	+	12	1981	c.1930delA	c.(1930-1932)aafs	p.K646fs	TAF1_ENST00000423759.1_Frame_Shift_Del_p.K667fs|TAF1_ENST00000276072.3_Frame_Shift_Del_p.K667fs|TAF1_ENST00000373790.4_Frame_Shift_Del_p.K646fs			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	646					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)				AAAGCACATCAAAAAAAAGGC	0.408													7	274	---	---	---	---						-	70603000	A	-	70603000	7	5	22	1	0	1	0	1	0	0	0	0	15570	131	5	0	2039	0	TAF1	23	70603000	Frame_Shift_Del	DEL	A	TCGA-IB-7651-01A-11D-2154-08	7895	70603000	84667560	20692	22838											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	63					0	0	1	0	0	G	70777093	A	G	70777093	3	3	22	1	0	0	0	0	1	0	0	0	10895	247	9	3	1411	3	OGT	23	70777093	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	174093	70777093	84493467	20693	22839											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	36					0	0	1	0	0	T	70824397	C	T	70824397	3	4	22	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	20694	22840											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479991.1_Missense_Mutation_p.R367M			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													32	85					5.45727e-16	5.98072e-16	1	1	0	A	71350291	C	A	71350291	3	1	22	1	0	0	0	0	1	0	0	0	13327	681	24	2	613	2	RGAG4	23	71350291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	525894	71350291	83920269	20695	22841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000479991.1_Missense_Mutation_p.P128L			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													26	59					0	0	1	0	0	A	71351008	G	A	71351008	3	1	22	1	0	0	0	0	1	0	0	0	13327	1116	39	1	1330	1	RGAG4	23	71351008	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	717	71351008	83919552	20696	22842											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535692.1_Missense_Mutation_p.R425Q|NHSL2_ENST00000510661.1_Missense_Mutation_p.R560Q|NHSL2_ENST00000540800.1_Missense_Mutation_p.R791Q			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													35	113					0	0	1	0	0	A	71359770	G	A	71359770	3	1	22	1	0	0	0	0	1	0	0	0	10459	1058	37	1	2394	1	NHSL2	23	71359770	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8762	71359770	83910790	20697	22843											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535692.1_Missense_Mutation_p.P523S|NHSL2_ENST00000510661.1_Missense_Mutation_p.P658S|NHSL2_ENST00000540800.1_Missense_Mutation_p.P889S			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													25	195					0	0	1	0	0	T	71360063	C	T	71360063	3	4	22	1	0	0	0	0	1	0	0	0	10459	507	18	2	2687	2	NHSL2	23	71360063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	293	71360063	83910497	20698	22844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	277					0	0	1	0	0	A	72434219	G	A	72434219	3	1	22	1	0	0	0	0	1	0	0	0	10205	1203	42	2	1276	2	NAP1L2	23	72434219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1074156	72434219	82836341	20699	22845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	160					0	0	1	0	0	T	72667226	C	T	72667226	3	4	22	1	0	0	0	0	1	0	0	0	3206	768	27	1	139	1	CDX4	23	72667226	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	233007	72667226	82603334	20700	22846											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:73960434A>C	ENST00000373468.1	-	3	4609	c.3958T>G	c.(3958-3960)Ttg>Gtg	p.L1320V	KIAA2022_ENST00000055682.5_Missense_Mutation_p.L1320V			Q5QGS0	K2022_HUMAN	KIAA2022	1320					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													105	324					0	0	1	0	0	C	73960434	A	C	73960434	3	2	22	1	0	0	0	0	1	0	0	0	8311	69	3	3	600	3	KIAA2022	23	73960434	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1293208	73960434	81310126	20701	22847											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:73964099G>T	ENST00000373468.1	-	3	944	c.293C>A	c.(292-294)gCc>gAc	p.A98D	KIAA2022_ENST00000055682.5_Missense_Mutation_p.A98D			Q5QGS0	K2022_HUMAN	KIAA2022	98					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													87	292					1.42074e-37	1.70676e-37	1	1	0	T	73964099	G	T	73964099	3	4	22	1	0	0	0	0	1	0	0	0	8311	1203	42	2	4265	2	KIAA2022	23	73964099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3665	73964099	81306461	20702	22848											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	85					0	0	1	0	0	T	75004464	C	T	75004464	2	4	22	1	0	0	0	0	0	0	0	1	9236	494	18	2		2	MAGEE2	23	75004464	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1040365	75004464	80266096	20703	22849											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	123					0	0	1	0	0	T	75648934	C	T	75648934	3	4	22	1	0	0	0	0	1	0	0	0	9235	681	24	2	613	2	MAGEE1	23	75648934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	644470	75648934	79621626	20704	22850											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	261					0	0	1	0	0	G	75650590	T	G	75650590	3	3	22	1	0	0	0	0	1	0	0	0	9235	1841	64	3	2269	3	MAGEE1	23	75650590	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1656	75650590	79619970	20705	22851											
ATRX	546	broad.mit.edu	37	chrX	76907782	76907784	+	In_Frame_Del	DEL	TCC	TCC	-													tttcatcttcctcctcctctTcctcctcctcctcctcttcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:76907782_76907784delTCC	ENST00000373344.5	-	15	4591_4593	c.4377_4379delGGA	c.(4375-4380)gaa>ga	p.EE1463del	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1463	Poly-Glu.				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)	ctcctcctcttcctcctcctcct	0.389			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						14	596	---	---	---	---						-	76907784	TCC	-	76907782	7	5	22	1	0	1	0	1	0	0	0	0	1206	1783	62	0	3183	0	ATRX	23	76907782	In_Frame_Del	DEL	TCC	TCGA-IB-7651-01A-11D-2154-08	1257192	76907782	78362778	20706	22852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000480.2	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						314	1107					0	0	1	0	0	A	76939224	G	A	76939224	2	1	22	1	0	0	0	0	0	0	0	1	1206	1368	48	2		2	ATRX	23	76939224	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31442	76939224	78331336	20707	22853											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													194	565					0	0	1	0	0	T	77131009	C	T	77131009	3	4	22	1	0	0	0	0	1	0	0	0	9246	768	27	1	855	1	MAGT1	23	77131009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191785	77131009	78139551	20708	22854											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000043.3	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													47	171					2.13384e-23	2.42615e-23	1	1	0	A	77244750	C	A	77244750	3	1	22	1	0	0	0	0	1	0	0	0	1188	797	28	2	642	2	ATP7A	23	77244750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113741	77244750	78025810	20709	22855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000043.3	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													82	277					3.1711e-36	3.79393e-36	1	1	0	T	77289223	G	T	77289223	3	4	22	1	0	0	0	0	1	0	0	0	1188	1174	41	2	3477	2	ATP7A	23	77289223	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44473	77289223	77981337	20710	22856											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537456.1_Missense_Mutation_p.D70Y|PGK1_ENST00000442431.1_Intron	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													65	765					2.17656e-39	2.63193e-39	1	1	0	T	77369532	G	T	77369532	3	4	22	1	0	0	0	0	1	0	0	0	11838	1174	41	2	306	2	PGK1	23	77369532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80309	77369532	77901028	20711	22857											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537456.1_Missense_Mutation_p.G109E|PGK1_ENST00000442431.1_Intron	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													164	664					0	0	1	0	0	A	77369650	G	A	77369650	3	1	22	1	0	0	0	0	1	0	0	0	11838	1232	43	2	424	2	PGK1	23	77369650	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118	77369650	77900910	20712	22858											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	154					0	0	1	0	0	T	77913260	C	T	77913260	3	4	22	1	0	0	0	0	1	0	0	0	17649	797	28	2	773	2	ZCCHC5	23	77913260	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	543610	77913260	77357300	20713	22859											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:78010530T>C	ENST00000435339.2	+	2	569	c.164T>C	c.(163-165)aTa>aCa	p.I55T	LPAR4_ENST00000373301.2_Missense_Mutation_p.I55T	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	55						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													27	1077					0	0	1	0	0	C	78010530	T	C	78010530	3	2	22	1	0	0	0	0	1	0	0	0	8952	1406	49	3	166	3	LPAR4	23	78010530	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	97270	78010530	77260030	20714	22860											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:78010800G>A	ENST00000435339.2	+	2	839	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	LPAR4_ENST00000373301.2_Missense_Mutation_p.R145Q	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	145						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													102	358					0	0	1	0	0	A	78010800	G	A	78010800	3	1	22	1	0	0	0	0	1	0	0	0	8952	1058	37	1	436	1	LPAR4	23	78010800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270	78010800	77259760	20715	22861											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373294.5_Missense_Mutation_p.N438S|TBX22_ENST00000373291.1_Missense_Mutation_p.N318S|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													166	508					0	0	1	0	0	G	79286360	A	G	79286360	3	3	22	1	0	0	0	0	1	0	0	0	15718	101	4	3	1343	3	TBX22	23	79286360	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1275560	79286360	75984200	20716	22862											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	204					0	0	1	0	0	A	79699097	G	A	79699097	2	1	22	1	0	0	0	0	0	0	0	1	5604	1132	40	1		1	FAM46D	23	79699097	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	412737	79699097	75571463	20717	22863											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_694984.4	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													244	801					0	0	1	0	0	C	79932615	A	C	79932615	3	2	22	1	0	0	0	0	1	0	0	0	1528	98	4	3	510	3	BRWD3	23	79932615	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	233518	79932615	75337945	20718	22864											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_694984.4	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													68	193					0	0	1	0	0	C	79932771	A	C	79932771	3	2	22	1	0	0	0	0	1	0	0	0	1528	214	8	3	666	3	BRWD3	23	79932771	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	156	79932771	75337789	20719	22865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_694984.4	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													36	134					0	0	1	0	0	A	79945476	G	A	79945476	4	1	22	1	0	0	0	0	0	1	0	0	1528	1066	37	1	1730	1	BRWD3	23	79945476	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12705	79945476	75325084	20720	22866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_694984.4	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													61	190					0	0	1	0	0	C	79979292	T	C	79979292	2	2	22	1	0	0	0	0	0	0	0	1	1528	1654	58	3		3	BRWD3	23	79979292	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33816	79979292	75291268	20721	22867											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	109					0	0	1	0	0	G	83128385	T	G	83128385	3	3	22	1	0	0	0	0	1	0	0	0	4164	1490	52	3	683	3	CYLC1	23	83128385	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3149093	83128385	72142175	20722	22868											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	115					0	0	1	0	0	A	83128818	G	A	83128818	3	1	22	1	0	0	0	0	1	0	0	0	4164	943	33	2	1116	2	CYLC1	23	83128818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	433	83128818	72141742	20723	22869											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	211					0.00244969	0.00247089	1	1	0	A	83129557	C	A	83129557	3	1	22	1	0	0	0	0	1	0	0	0	4164	681	24	2	1855	2	CYLC1	23	83129557	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	739	83129557	72141003	20724	22870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													144	463					0	0	1	0	0	T	83724000	C	T	83724000	3	4	22	1	0	0	0	0	1	0	0	0	7067	478	17	2	1373	2	HDX	23	83724000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	594443	83724000	71546560	20725	22871											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	607					0	0	1	0	0	G	83724135	T	G	83724135	3	3	22	1	0	0	0	0	1	0	0	0	7067	1725	60	3	1508	3	HDX	23	83724135	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	135	83724135	71546425	20726	22872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													172	613					0	0	1	0	0	C	84363222	T	C	84363222	2	2	22	1	0	0	0	0	0	0	0	1	13908	1799	63	3		3	SATL1	23	84363222	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	639087	84363222	70907338	20727	22873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373125.4_Missense_Mutation_p.A296V|DACH2_ENST00000508860.1_Missense_Mutation_p.A129V|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													19	97					0	0	1	0	0	T	85950138	C	T	85950138	3	4	22	1	0	0	0	0	1	0	0	0	4245	797	28	2	905	2	DACH2	23	85950138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1586916	85950138	69320422	20728	22874											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373125.4_Missense_Mutation_p.P325T|DACH2_ENST00000508860.1_Missense_Mutation_p.P158T|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													166	551					2.95651e-86	3.79019e-86	1	1	0	A	85969592	C	A	85969592	3	1	22	1	0	0	0	0	1	0	0	0	4245	855	30	2	995	2	DACH2	23	85969592	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19454	85969592	69300968	20729	22875											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_149037.4	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													34	111					0	0	1	0	0	C	88008738	A	C	88008738	3	2	22	1	0	0	0	0	1	0	0	0	3859	333	12	3	325	3	CPXCR1	23	88008738	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2039146	88008738	67261822	20730	22876											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	210					0	0	1	0	0	T	89177650	C	T	89177650	3	4	22	1	0	0	0	0	1	0	0	0	15887	652	23	1	568	1	TGIF2LX	23	89177650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1168912	89177650	66092910	20731	22877											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	204					0	0	1	0	0	A	90691094	G	A	90691094	3	1	22	1	0	0	0	0	1	0	0	0	11414	1087	38	1	520	1	PABPC5	23	90691094	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1513444	90691094	64579466	20732	22878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504220.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000406881.1_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													166	468					0	0	1	0	0	T	91090729	C	T	91090729	4	4	22	1	0	0	0	0	0	1	0	0	11555	876	31	1	228	1	PCDH11X	23	91090729	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	399635	91090729	64179831	20733	22879											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504220.1_Silent_p.S152S|PCDH11X_ENST00000361655.2_Silent_p.S152S|PCDH11X_ENST00000361724.1_Silent_p.S152S|PCDH11X_ENST00000373088.1_Silent_p.S152S|PCDH11X_ENST00000373097.1_Silent_p.S152S|PCDH11X_ENST00000395337.2_Silent_p.S152S|PCDH11X_ENST00000298274.8_Silent_p.S152S|PCDH11X_ENST00000406881.1_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													8	258					0	0	1	0	0	A	91090959	G	A	91090959	2	1	22	1	0	0	0	0	0	0	0	1	11555	1103	39	1		1	PCDH11X	23	91090959	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230	91090959	64179601	20734	22880											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504220.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D743N|PCDH11X_ENST00000406881.1_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													17	439					0	0	1	0	0	A	91133466	G	A	91133466	3	1	22	1	0	0	0	0	1	0	0	0	11555	942	33	2	2233	2	PCDH11X	23	91133466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42507	91133466	64137094	20735	22881											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000504220.1_3'UTR|PCDH11X_ENST00000361655.2_Silent_p.P1195P|PCDH11X_ENST00000373088.1_Silent_p.P1176P|PCDH11X_ENST00000373097.1_Silent_p.P1203P|PCDH11X_ENST00000298274.8_Silent_p.P1176P|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													150	487					0	0	1	0	0	A	91873534	G	A	91873534	2	1	22	1	0	0	0	0	0	0	0	1	11555	1045	37	1		1	PCDH11X	23	91873534	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	740068	91873534	63397026	20736	22882											
NAP1L3	4675	broad.mit.edu	37	chrX	92928133	92928133	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctgccgctGccgctgctgctgccactagt	12	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:92928133G>T	ENST00000373079.3	-	1	434	c.171C>A	c.(169-171)ggC>ggA	p.G57G	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	57	Ser-rich.				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						tgctgccgctgccgctgctgc	0.617													6	158					0.00116845	0.00118049	1	1	0	T	92928133	G	T	92928133	2	4	22	1	0	0	0	0	0	0	0	1	10206	1306	46	2		2	NAP1L3	23	92928133	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1054599	92928133	62342427	20737	22883											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373061.3_Silent_p.N967N|DIAPH2_ENST00000373049.4_Silent_p.N967N|DIAPH2_ENST00000373054.4_Silent_p.N963N|DIAPH2_ENST00000355827.4_Silent_p.N967N			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													6	273					0	0	1	0	0	T	96603171	C	T	96603171	2	4	22	1	0	0	0	0	0	0	0	1	4547	477	17	2		2	DIAPH2	23	96603171	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3675038	96603171	58667389	20738	22884											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	188					0	0	1	0	0	G	99657821	T	G	99657821	3	3	22	1	0	0	0	0	1	0	0	0	11561	1850	64	3	1145	3	PCDH19	23	99657821	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3054650	99657821	55612739	20739	22885											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	59					0	0	1	0	0	A	99661460	G	A	99661460	2	1	22	1	0	0	0	0	0	0	0	1	11561	987	35	2		2	PCDH19	23	99661460	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3639	99661460	55609100	20740	22886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	154					0	0	1	0	0	T	99661672	C	T	99661672	3	4	22	1	0	0	0	0	1	0	0	0	11561	536	19	1	1546	1	PCDH19	23	99661672	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212	99661672	55608888	20741	22887											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	264					0	0	1	0	0	T	99662630	C	T	99662630	2	4	22	1	0	0	0	0	0	0	0	1	11561	726	26	2		2	PCDH19	23	99662630	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	958	99662630	55607930	20742	22888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372960.4_Missense_Mutation_p.G426C|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Intron	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													56	154					1.11015e-26	1.28132e-26	1	1	0	A	100104325	C	A	100104325	3	1	22	1	0	0	0	0	1	0	0	0	10603	681	24	2	319	2	NOX1	23	100104325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	441695	100104325	55166235	20743	22889											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372960.4_Missense_Mutation_p.V128M|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.V165M	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													232	859					0	0	1	0	0	T	100117559	C	T	100117559	3	4	22	1	0	0	0	0	1	0	0	0	10603	565	20	2	1233	2	NOX1	23	100117559	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13234	100117559	55153001	20744	22890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538510.1_Missense_Mutation_p.S475N|DRP2_ENST00000541709.1_Missense_Mutation_p.S397N	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													192	510					0	0	1	0	0	A	100503249	G	A	100503249	3	1	22	1	0	0	0	0	1	0	0	0	4790	971	34	2	1466	2	DRP2	23	100503249	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	385690	100503249	54767311	20745	22891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				118	377					0	0	1	0	0	A	100615114	G	A	100615114	2	1	22	1	0	0	0	0	0	0	0	1	1560	1020	36	2		2	BTK	23	100615114	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111865	100615114	54655446	20746	22892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Missense_Mutation_p.P22L	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				183	541					0	0	1	0	0	A	100630208	G	A	100630208	3	1	22	1	0	0	0	0	1	0	0	0	1560	1000	35	2	1986	2	BTK	23	100630208	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15094	100630208	54640352	20747	22893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361910.4_Missense_Mutation_p.D46G|ARMCX6_ENST00000538627.1_Missense_Mutation_p.D46G|ARMCX6_ENST00000497931.1_Intron	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													63	300					0	0	1	0	0	C	100871474	T	C	100871474	3	2	22	1	0	0	0	0	1	0	0	0	962	1667	58	3	769	3	ARMCX6	23	100871474	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	241266	100871474	54399086	20748	22894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													152	497					0	0	1	0	0	A	100911186	G	A	100911186	2	1	22	1	0	0	0	0	0	0	0	1	959	1190	42	2		2	ARMCX2	23	100911186	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39712	100911186	54359374	20749	22895											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													139	400					0	0	1	0	0	T	100911224	C	T	100911224	3	4	22	1	0	0	0	0	1	0	0	0	959	739	26	2	551	2	ARMCX2	23	100911224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38	100911224	54359336	20750	22896											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000458570.1_Silent_p.T153T|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Silent_p.T324T	NM_001011657.3	NP_001011657.2	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													174	543					0	0	1	0	0	C	101139427	A	C	101139427	2	2	22	1	0	0	0	0	0	0	0	1	17749	59	3	3		3	ZMAT1	23	101139427	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	228203	101139427	54131133	20751	22897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000458570.1_Missense_Mutation_p.R20W|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.R191W	NM_001011657.3	NP_001011657.2	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													33	127					0	0	1	0	0	A	101141638	G	A	101141638	3	1	22	1	0	0	0	0	1	0	0	0	17749	1115	39	1	1353	1	ZMAT1	23	101141638	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2211	101141638	54128922	20752	22898											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001011657.2	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													111	308					1.09907e-53	1.37041e-53	1	1	0	T	101152901	G	T	101152901	3	4	22	1	0	0	0	0	1	0	0	0	17749	1020	36	2	1483	2	ZMAT1	23	101152901	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11263	101152901	54117659	20753	22899											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ARMCX5_ENST00000536530.1_Missense_Mutation_p.W187C|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.W187C|ARMCX5_ENST00000541409.1_Missense_Mutation_p.W187C|ARMCX5_ENST00000537008.1_Missense_Mutation_p.W187C|ARMCX5_ENST00000372742.1_Missense_Mutation_p.W187C|RP4-769N13.7_ENST00000602441.1_RNA	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													134	476					3.83742e-62	4.83556e-62	1	1	0	T	101857630	G	T	101857630	3	4	22	1	0	0	0	0	1	0	0	0	961	1212	42	2	563	2	ARMCX5	23	101857630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	704729	101857630	53412930	20754	22900											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ARMCX5_ENST00000536530.1_Missense_Mutation_p.G238E|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.G238E|ARMCX5_ENST00000541409.1_Missense_Mutation_p.G238E|ARMCX5_ENST00000537008.1_Missense_Mutation_p.G238E|ARMCX5_ENST00000372742.1_Missense_Mutation_p.G238E|RP4-769N13.7_ENST00000602441.1_RNA	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													70	306					0	0	1	0	0	A	101857782	G	A	101857782	3	1	22	1	0	0	0	0	1	0	0	0	961	1232	43	2	715	2	ARMCX5	23	101857782	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152	101857782	53412778	20755	22901											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361600.5_Missense_Mutation_p.L245F|GPRASP1_ENST00000415986.1_Missense_Mutation_p.L245F|GPRASP1_ENST00000444152.1_Missense_Mutation_p.L245F|RP4-769N13.7_ENST00000602441.1_RNA	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													184	732					0	0	1	0	0	T	101909574	C	T	101909574	3	4	22	1	0	0	0	0	1	0	0	0	6763	797	28	2	735	2	GPRASP1	23	101909574	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51792	101909574	53360986	20756	22902											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361600.5_Missense_Mutation_p.S1134N|GPRASP1_ENST00000415986.1_Missense_Mutation_p.S1134N|GPRASP1_ENST00000444152.1_Missense_Mutation_p.S1134N|RP4-769N13.7_ENST00000602441.1_RNA	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													117	428					0	0	1	0	0	A	101912242	G	A	101912242	3	1	22	1	0	0	0	0	1	0	0	0	6763	1029	36	2	3403	2	GPRASP1	23	101912242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2668	101912242	53358318	20757	22903											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361600.5_Silent_p.S1248S|GPRASP1_ENST00000415986.1_Silent_p.S1248S|GPRASP1_ENST00000444152.1_Silent_p.S1248S|RP4-769N13.7_ENST00000602441.1_RNA	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													17	509					0	0	1	0	0	T	101912585	C	T	101912585	2	4	22	1	0	0	0	0	0	0	0	1	6763	767	27	1		1	GPRASP1	23	101912585	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	343	101912585	53357975	20758	22904											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													156	483					0	0	1	0	0	A	101969867	G	A	101969867	3	1	22	1	0	0	0	0	1	0	0	0	6764	1087	38	1	72	1	GPRASP2	23	101969867	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57282	101969867	53300693	20759	22905											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													193	672					0	0	1	0	0	T	101970438	C	T	101970438	3	4	22	1	0	0	0	0	1	0	0	0	6764	739	26	2	643	2	GPRASP2	23	101970438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	571	101970438	53300122	20760	22906											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													94	362					7.79919e-48	9.60998e-48	1	1	0	T	101970883	G	T	101970883	3	4	22	1	0	0	0	0	1	0	0	0	6764	1281	45	2	1088	2	GPRASP2	23	101970883	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	445	101970883	53299677	20761	22907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:102974199C>A	ENST00000372617.4	-	7	1139	c.718_splice	c.e7-1	p.G240_splice		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													18	445					5.01169e-05	5.1097e-05	1	1	0	A	102974199	C	A	102974199	5	1	22	1	0	0	0	0	0	0	1	0	6499	637	22	2	641	2	GLRA4	23	102974199	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1003316	102974199	52296361	20762	22908											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													241	805					0	0	1	0	0	A	103499510	G	A	103499510	2	1	22	1	0	0	0	0	0	0	0	1	5291	1372	48	2		2	ESX1	23	103499510	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	525311	103499510	51771050	20763	22909											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	372					0	0	1	0	0	T	104440202	C	T	104440202	3	4	22	1	0	0	0	0	1	0	0	0	7706	797	28	2	134	2	IL1RAPL2	23	104440202	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	940692	104440202	50830358	20764	22910											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413579.1_Missense_Mutation_p.S269L|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.R270W	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													9	250					0	0	1	0	0	A	104464070	G	A	104464070	3	1	22	1	0	0	0	0	1	0	0	0	15835	1057	37	1	427	1	TEX13A	23	104464070	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23868	104464070	50806490	20765	22911											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413579.1_Missense_Mutation_p.L162M|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_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													6	264					2.0095e-06	2.07161e-06	1	1	0	T	104464394	G	T	104464394	3	4	22	1	0	0	0	0	1	0	0	0	15835	991	35	2	751	2	TEX13A	23	104464394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	324	104464394	50806166	20766	22912											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413579.1_Missense_Mutation_p.R89M|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_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													6	209					0.00116845	0.00118049	1	1	0	A	104464816	C	A	104464816	3	1	22	1	0	0	0	0	1	0	0	0	15835	681	24	2	973	2	TEX13A	23	104464816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	422	104464816	50805744	20767	22913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413579.1_Silent_p.L85L|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_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													62	161					0	0	1	0	0	C	104464827	T	C	104464827	2	2	22	1	0	0	0	0	0	0	0	1	15835	1625	57	3		3	TEX13A	23	104464827	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11	104464827	50805733	20768	22914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538500.1_Missense_Mutation_p.K5N|IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.K400N	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													80	269					7.31121e-38	8.79105e-38	1	1	0	T	104999178	G	T	104999178	3	4	22	1	0	0	0	0	1	0	0	0	7706	991	35	2	1234	2	IL1RAPL2	23	104999178	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	534351	104999178	50271382	20769	22915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105179162T>C	ENST00000428173.2	+	21	3806	c.3502_splice	c.e21-1	p.L1168_splice	NRK_ENST00000243300.9_Splice_Site_p.L1167_splice			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)			6	307					0	0	1	0	0	C	105179162	T	C	105179162	5	2	22	1	0	0	0	0	0	0	1	0	10703	1652	57	3	3582	3	NRK	23	105179162	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	179984	105179162	50091398	20770	22916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			14	26					0	0	1	0	0	A	105187998	G	A	105187998	3	1	22	1	0	0	0	0	1	0	0	0	10703	1203	42	2	4118	2	NRK	23	105187998	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8836	105187998	50082562	20771	22917											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			41	117					0	0	1	0	0	G	105189929	A	G	105189929	3	3	22	1	0	0	0	0	1	0	0	0	10703	381	14	3	4223	3	NRK	23	105189929	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1931	105189929	50080631	20772	22918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372563.1_Missense_Mutation_p.S262N|SERPINA7_ENST00000487487.1_5'UTR			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													163	553					0	0	1	0	0	T	105279214	C	T	105279214	3	4	22	1	0	0	0	0	1	0	0	0	14148	797	28	2	474	2	SERPINA7	23	105279214	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89285	105279214	49991346	20773	22919											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													186	531					4.74923e-77	6.06313e-77	1	1	0	A	105280503	C	A	105280503	3	1	22	1	0	0	0	0	1	0	0	0	14148	681	24	2	716	2	SERPINA7	23	105280503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1289	105280503	49990057	20774	22920											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													129	414					0	0	1	0	0	T	105280711	C	T	105280711	2	4	22	1	0	0	0	0	0	0	0	1	14148	796	28	2		2	SERPINA7	23	105280711	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208	105280711	49989849	20775	22921											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	260					0	0	1	0	0	G	106016155	T	G	106016155	3	3	22	1	0	0	0	0	1	0	0	0	13488	1493	52	3	913	3	RNF128	23	106016155	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	735444	106016155	49254405	20776	22922											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	392					0	0	1	0	0	G	106016311	T	G	106016311	3	3	22	1	0	0	0	0	1	0	0	0	13488	1493	52	3	1069	3	RNF128	23	106016311	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	156	106016311	49254249	20777	22923											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	260					3.13743e-37	3.76563e-37	1	1	0	T	106236586	G	T	106236586	1	4	22	1	0	0	0	0	0	0	0	0	9753	971	34	2		2	MORC4	23	106236586	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	220275	106236586	49033974	20778	22924											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000506081.1_Missense_Mutation_p.I146L|TSC22D3_ENST00000514426.1_Missense_Mutation_p.I78L|TSC22D3_ENST00000372382.4_Missense_Mutation_p.I56L|TSC22D3_ENST00000372390.4_Missense_Mutation_p.I23L|TSC22D3_ENST00000372397.2_Missense_Mutation_p.I80L|TSC22D3_ENST00000372384.2_Missense_Mutation_p.I146L|TSC22D3_ENST00000315660.4_Missense_Mutation_p.I146L	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													169	665					0	0	1	0	0	G	106957916	T	G	106957916	3	3	22	1	0	0	0	0	1	0	0	0	16670	1435	50	3	170	3	TSC22D3	23	106957916	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	721330	106957916	48312644	20779	22925											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	165					0	0	1	0	0	C	107084366	T	C	107084366	2	2	22	1	0	0	0	0	0	0	0	1	9626	1702	59	3		3	MID2	23	107084366	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	126450	107084366	48186194	20780	22926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	317					0	0	1	0	0	T	107160956	C	T	107160956	2	4	22	1	0	0	0	0	0	0	0	1	9626	639	23	1		1	MID2	23	107160956	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76590	107160956	48109604	20781	22927											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	268					0	0	1	0	0	T	107167644	C	T	107167644	3	4	22	1	0	0	0	0	1	0	0	0	9626	565	20	2	1537	2	MID2	23	107167644	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6688	107167644	48102916	20782	22928											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													135	869					0	0	1	0	0	T	107224738	C	T	107224738	3	4	22	1	0	0	0	0	1	0	0	0	15836	739	26	2	431	2	TEX13B	23	107224738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57094	107224738	48045822	20783	22929											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	712					0	0	1	0	0	A	107225187	G	A	107225187	2	1	22	1	0	0	0	0	0	0	0	1	15836	1078	38	1		1	TEX13B	23	107225187	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	449	107225187	48045373	20784	22930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538570.1_Missense_Mutation_p.S927L|COL4A6_ENST00000372216.4_Missense_Mutation_p.S928L|COL4A6_ENST00000545689.1_Missense_Mutation_p.S927L|COL4A6_ENST00000334504.7_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				59	213					0	0	1	0	0	A	107418934	G	A	107418934	3	1	22	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	20785	22931											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538570.1_Missense_Mutation_p.P698S|COL4A6_ENST00000372216.4_Missense_Mutation_p.P699S|COL4A6_ENST00000545689.1_Missense_Mutation_p.P698S|COL4A6_ENST00000334504.7_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				44	118					0	0	1	0	0	A	107423784	G	A	107423784	3	1	22	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	20786	22932											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538570.1_Missense_Mutation_p.G438V|COL4A6_ENST00000372216.4_Missense_Mutation_p.G439V|COL4A6_ENST00000545689.1_Missense_Mutation_p.G438V|COL4A6_ENST00000334504.7_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				148	638					3.31903e-57	4.15634e-57	1	1	0	A	107434631	C	A	107434631	3	1	22	1	0	0	0	0	1	0	0	0	3718	739	26	2	3867	2	COL4A6	23	107434631	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10847	107434631	47835929	20787	22933											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				75	253					1.58458e-29	1.85199e-29	1	1	0	A	107936017	C	A	107936017	3	1	22	1	0	0	0	0	1	0	0	0	3717	681	24	2	4751	2	COL4A5	23	107936017	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	501386	107936017	47334543	20788	22934											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													180	577					0	0	1	0	0	A	107978100	T	A	107978100	3	1	22	1	0	0	0	0	1	0	0	0	7886	1493	52	5	2302	5	IRS4	23	107978100	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42083	107978100	47292460	20789	22935											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													88	304					0	0	1	0	0	A	107979104	G	A	107979104	2	1	22	1	0	0	0	0	0	0	0	1	7886	1194	42	2		2	IRS4	23	107979104	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1004	107979104	47291456	20790	22936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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		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													24	652					0	0	1	0	0	A	107979287	G	A	107979287	2	1	22	1	0	0	0	0	0	0	0	1	7886	1049	37	1		1	IRS4	23	107979287	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183	107979287	47291273	20791	22937											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	282					9.4991e-31	1.11549e-30	1	1	0	A	108628419	C	A	108628419	3	1	22	1	0	0	0	0	1	0	0	0	6939	681	24	2	293	2	GUCY2F	23	108628419	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	649132	108628419	46642141	20792	22938											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372072.3_Missense_Mutation_p.E83K|TMEM164_ENST00000372068.2_Missense_Mutation_p.E232K|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													83	296					0	0	1	0	0	A	109416479	G	A	109416479	3	1	22	1	0	0	0	0	1	0	0	0	16139	1059	37	1	716	1	TMEM164	23	109416479	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	788060	109416479	45854081	20793	22939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	243					1.68946e-44	2.06755e-44	1	1	0	T	109695829	G	T	109695829	3	4	22	1	0	0	0	0	1	0	0	0	13326	971	34	2	1986	2	RGAG1	23	109695829	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	279350	109695829	45574731	20794	22940											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													97	339					0	0	1	0	0	T	109696078	C	T	109696078	4	4	22	1	0	0	0	0	0	1	0	0	13326	711	25	2	2235	2	RGAG1	23	109696078	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249	109696078	45574482	20795	22941											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	114					0	0	1	0	0	A	110954908	G	A	110954908	2	1	22	1	0	0	0	0	0	0	0	1	512	1335	47	2		2	ALG13	23	110954908	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1258830	110954908	44315652	20796	22942											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													111	384					0	0	1	0	0	A	111090508	G	A	111090508	3	1	22	1	0	0	0	0	1	0	0	0	16643	1145	40	1	1411	1	TRPC5	23	111090508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135600	111090508	44180052	20797	22943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	463					0	0	1	0	0	C	111097109	T	C	111097109	3	2	22	1	0	0	0	0	1	0	0	0	16643	1667	58	3	1827	3	TRPC5	23	111097109	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6601	111097109	44173451	20798	22944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	399					2.48254e-18	2.75398e-18	1	1	0	T	111097131	G	T	111097131	2	4	22	1	0	0	0	0	0	0	0	1	16643	932	33	2		2	TRPC5	23	111097131	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22	111097131	44173429	20799	22945											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													172	567					0	0	1	0	0	A	111155577	G	A	111155577	3	1	22	1	0	0	0	0	1	0	0	0	16643	1000	35	2	2115	2	TRPC5	23	111155577	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58446	111155577	44114983	20800	22946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371958.1_Nonsense_Mutation_p.R338*|AMOT_ENST00000304758.1_Nonsense_Mutation_p.R161*|AMOT_ENST00000524145.1_Nonsense_Mutation_p.R570*|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													246	961					0	0	1	0	0	A	112048243	G	A	112048243	4	1	22	1	0	0	0	0	0	1	0	0	578	1153	40	1	1574	1	AMOT	23	112048243	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	892666	112048243	43222317	20801	22947											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371958.1_Missense_Mutation_p.I269T|AMOT_ENST00000304758.1_Missense_Mutation_p.I92T|AMOT_ENST00000524145.1_Missense_Mutation_p.I501T|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													179	717					0	0	1	0	0	G	112054512	A	G	112054512	3	3	22	1	0	0	0	0	1	0	0	0	578	101	4	3	1788	3	AMOT	23	112054512	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6269	112054512	43216048	20802	22948											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	37					0	0	1	0	0	G	114404869	T	G	114404869	3	3	22	1	0	0	0	0	1	0	0	0	8978	1696	59	3	1370	3	LRCH2	23	114404869	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2350357	114404869	40865691	20803	22949											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:117676803C>A	ENST00000276204.6	+	2	292	c.219_splice	c.e2+1	p.S73_splice	DOCK11_ENST00000276202.7_Splice_Site_p.S73_splice			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													32	677					7.16026e-08	7.45543e-08	1	1	0	A	117676803	C	A	117676803	5	1	22	1	0	0	0	0	0	0	1	0	4713	927	32	2	224	2	DOCK11	23	117676803	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3271934	117676803	37593757	20804	22950											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118112410G>A	ENST00000365713.2	+	2	1083	c.920G>A	c.(919-921)cGc>cAc	p.R307H	LONRF3_ENST00000422289.2_5'UTR|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.R307H|LONRF3_ENST00000371628.3_Missense_Mutation_p.R307H			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													63	263					0	0	1	0	0	A	118112410	G	A	118112410	3	1	22	1	0	0	0	0	1	0	0	0	8941	1087	38	1	926	1	LONRF3	23	118112410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	435607	118112410	37158150	20805	22951											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	176					8.52529e-16	9.33448e-16	1	1	0	A	118223067	C	A	118223067	3	1	22	1	0	0	0	0	1	0	0	0	8256	797	28	2	3019	2	KIAA1210	23	118223067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110657	118223067	37047493	20806	22952											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	742					0	0	1	0	0	C	118239009	T	C	118239009	2	2	22	1	0	0	0	0	0	0	0	1	8256	1683	59	3		3	KIAA1210	23	118239009	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15942	118239009	37031551	20807	22953											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000304449.5_Silent_p.L455L|NKRF_ENST00000542113.1_Silent_p.L470L	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													134	352					0	0	1	0	0	A	118724025	G	A	118724025	2	1	22	1	0	0	0	0	0	0	0	1	10494	962	34	2		2	NKRF	23	118724025	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	485016	118724025	36546535	20808	22954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000304449.5_Missense_Mutation_p.R379Q|NKRF_ENST00000542113.1_Missense_Mutation_p.R394Q	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													19	546					0	0	1	0	0	T	118724252	C	T	118724252	3	4	22	1	0	0	0	0	1	0	0	0	10494	884	31	1	940	1	NKRF	23	118724252	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227	118724252	36546308	20809	22955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	532					1.48873e-21	1.67879e-21	1	1	0	T	118972012	G	T	118972012	3	4	22	1	0	0	0	0	1	0	0	0	17066	1000	35	2	449	2	UPF3B	23	118972012	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	247760	118972012	36298548	20810	22956											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119054470G>T	ENST00000371431.3	+	7	768		c.e7-1		AKAP14_ENST00000334356.2_Splice_Site|AKAP14_ENST00000371423.2_Splice_Site|AKAP14_ENST00000491105.1_Splice_Site|AKAP14_ENST00000371425.4_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													44	179					5.34276e-22	6.03513e-22	1	1	0	T	119054470	G	T	119054470	5	4	22	1	0	0	0	0	0	0	1	0	447	956	33	2	521	2	AKAP14	23	119054470	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82458	119054470	36216090	20811	22957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119068457G>A	ENST00000371410.3	-	5	903	c.737_splice	c.e5+1	p.S246_splice	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													62	278					0	0	1	0	0	A	119068457	G	A	119068457	5	1	22	1	0	0	0	0	0	0	1	0	10486	1072	37	1	530	1	NKAP	23	119068457	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13987	119068457	36202103	20812	22958											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	436					0	0	1	0	0	T	119070262	C	T	119070262	3	4	22	1	0	0	0	0	1	0	0	0	10486	565	20	2	600	2	NKAP	23	119070262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1805	119070262	36200298	20813	22959											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													131	565					0	0	1	0	0	T	119668403	C	T	119668403	2	4	22	1	0	0	0	0	0	0	0	1	4081	581	21	2		2	CUL4B	23	119668403	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	598141	119668403	35602157	20814	22960	155	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	671					0	0	1	0	0	A	119668405	G	A	119668405	2	1	22	1	0	0	0	0	0	0	0	1	4081	1020	36	2		2	CUL4B	23	119668405	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2	119668405	35602155	20815	22961	155	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	133					2.51541e-25	2.88513e-25	1	1	0	A	119674407	C	A	119674407	3	1	22	1	0	0	0	0	1	0	0	0	4081	797	28	2	1273	2	CUL4B	23	119674407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6002	119674407	35596153	20816	22962											
CUL4B	8450	broad.mit.edu	37	chrX	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-													ttgcagcagttggtgaagatGaggaggaggaggaggaggat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119694117_119694119delGAG	ENST00000371322.5	-	1	436_438	c.375_377delCTC	c.(373-378)tca>tc	p.SS127del	CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	145	Ser-rich.				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						TGGTGAAGATgaggaggaggagg	0.488													7	302	---	---	---	---						-	119694119	GAG	-	119694117	7	5	22	1	0	1	0	1	0	0	0	0	4081	1294	45	0	2390	0	CUL4B	23	119694117	In_Frame_Del	DEL	GAG	TCGA-IB-7651-01A-11D-2154-08	19710	119694117	35576443	20817	22963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													202	628					0	0	1	0	0	T	120182660	C	T	120182660	2	4	22	1	0	0	0	0	0	0	0	1	6519	871	31	1		1	GLUD2	23	120182660	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	488543	120182660	35087900	20818	22964											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													137	454					0	0	1	0	0	A	120182956	G	A	120182956	3	1	22	1	0	0	0	0	1	0	0	0	6519	1029	36	2	1420	2	GLUD2	23	120182956	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	296	120182956	35087604	20819	22965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													118	338					7.8952e-62	9.94632e-62	1	1	0	A	122755365	C	A	122755365	3	1	22	1	0	0	0	0	1	0	0	0	15925	797	28	2	954	2	THOC2	23	122755365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2572409	122755365	32515195	20820	22966											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	129					0	0	1	0	0	C	122829989	T	C	122829989	2	2	22	1	0	0	0	0	0	0	0	1	15925	1490	52	3		3	THOC2	23	122829989	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	74624	122829989	32440571	20821	22967											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	289					0	0	1	0	0	A	125299095	G	A	125299095	2	1	22	1	0	0	0	0	0	0	0	1	4289	1078	38	1		1	DCAF12L2	23	125299095	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2469106	125299095	29971465	20822	22968	156	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	286					0	0	1	0	0	A	125299102	G	A	125299102	3	1	22	1	0	0	0	0	1	0	0	0	4289	1203	42	2	589	2	DCAF12L2	23	125299102	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7	125299102	29971458	20823	22969	156	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	266					4.03997e-35	4.81766e-35	1	1	0	A	128582342	C	A	128582342	4	1	22	1	0	0	0	0	0	1	0	0	14822	922	32	2	59	2	SMARCA1	23	128582342	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3283240	128582342	26688218	20824	22970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	124					0	0	1	0	0	T	128691392	C	T	128691392	3	4	22	1	0	0	0	0	1	0	0	0	10871	797	28	2	347	2	OCRL	23	128691392	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109050	128691392	26579168	20825	22971											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	731					0	0	1	0	0	T	128880624	C	T	128880624	3	4	22	1	0	0	0	0	1	0	0	0	17503	768	27	1	479	1	XPNPEP2	23	128880624	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	189232	128880624	26389936	20826	22972											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|UTP14A_ENST00000425117.2_Intron|RP4-537K23.4_ENST00000432062.1_RNA	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													184	581					0	0	1	0	0	A	129045772	G	A	129045772	3	1	22	1	0	0	0	0	1	0	0	0	17155	1087	38	1	434	1	UTP14A	23	129045772	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165148	129045772	26224788	20827	22973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|UTP14A_ENST00000425117.2_Missense_Mutation_p.N611S|UTP14A_ENST00000371042.3_Missense_Mutation_p.N495S|RP4-537K23.4_ENST00000432062.1_RNA	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)	97	264					0	0	1	0	0	G	129060260	A	G	129060260	3	3	22	1	0	0	0	0	1	0	0	0	17155	101	4	3	2042	3	UTP14A	23	129060260	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14488	129060260	26210300	20828	22974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535724.1_3'UTR|AIFM1_ENST00000460436.2_Missense_Mutation_p.P247S|AIFM1_ENST00000440263.1_Missense_Mutation_p.P234S|AIFM1_ENST00000346424.2_Missense_Mutation_p.P299S	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													192	640					0	0	1	0	0	A	129263959	G	A	129263959	3	1	22	1	0	0	0	0	1	0	0	0	423	1203	42	2	93	2	AIFM1	23	129263959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203699	129263959	26006601	20829	22975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	269					8.81991e-31	1.03612e-30	1	1	0	T	129318474	G	T	129318474	3	4	22	1	0	0	0	0	1	0	0	0	12974	933	33	2	480	2	RAB33A	23	129318474	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54515	129318474	25952086	20830	22976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	362					0	0	1	0	0	A	129546425	G	A	129546425	3	1	22	1	0	0	0	0	1	0	0	0	13204	1087	38	1	594	1	RBMX2	23	129546425	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227951	129546425	25724135	20831	22977											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370927.1_Missense_Mutation_p.L425I|ENOX2_ENST00000394363.1_Missense_Mutation_p.L396I|ENOX2_ENST00000370935.1_Missense_Mutation_p.L396I	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													171	496					1.07678e-90	1.38253e-90	1	1	0	T	129771328	G	T	129771328	3	4	22	1	0	0	0	0	1	0	0	0	5155	971	34	2	579	2	ENOX2	23	129771328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	224903	129771328	25499232	20832	22978											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370927.1_Missense_Mutation_p.V304A|ENOX2_ENST00000394363.1_Missense_Mutation_p.V275A|ENOX2_ENST00000370935.1_Missense_Mutation_p.V275A	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													18	1168					0	0	1	0	0	G	129801587	A	G	129801587	3	3	22	1	0	0	0	0	1	0	0	0	5155	159	6	3	953	3	ENOX2	23	129801587	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30259	129801587	25468973	20833	22979											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370910.1_Missense_Mutation_p.D1084Y|IGSF1_ENST00000361420.3_Missense_Mutation_p.D1093Y|IGSF1_ENST00000370903.3_Missense_Mutation_p.D1098Y			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													263	818					8.53533e-96	1.09695e-95	1	1	0	A	130409168	C	A	130409168	3	1	22	1	0	0	0	0	1	0	0	0	7640	913	32	2	749	2	IGSF1	23	130409168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	607581	130409168	24861392	20834	22980											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370910.1_Missense_Mutation_p.L638R|IGSF1_ENST00000361420.3_Missense_Mutation_p.L647R|IGSF1_ENST00000370903.3_Missense_Mutation_p.L652R			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													135	387					0	0	1	0	0	C	130412536	A	C	130412536	3	2	22	1	0	0	0	0	1	0	0	0	7640	72	3	3	2106	3	IGSF1	23	130412536	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3368	130412536	24858024	20835	22981											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370910.1_Missense_Mutation_p.I428T|IGSF1_ENST00000361420.3_Missense_Mutation_p.I437T|IGSF1_ENST00000370903.3_Missense_Mutation_p.I437T			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													61	218					0	0	1	0	0	G	130415855	A	G	130415855	3	3	22	1	0	0	0	0	1	0	0	0	7640	333	12	3	2767	3	IGSF1	23	130415855	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3319	130415855	24854705	20836	22982											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	505					0	0	1	0	0	T	131228097	C	T	131228097	3	4	22	1	0	0	0	0	1	0	0	0	6090	797	28	2	1821	2	FRMD7	23	131228097	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	812242	131228097	24042463	20837	22983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370874.1_Missense_Mutation_p.T179N|RAP2C_ENST00000460462.1_5'UTR	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|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													54	233					7.89702e-26	9.07718e-26	1	1	0	T	131348212	G	T	131348212	3	4	22	1	0	0	0	0	1	0	0	0	13094	1029	36	2	19	2	RAP2C	23	131348212	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120115	131348212	23922348	20838	22984											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													152	536					0	0	1	0	0	A	132445370	G	A	132445370	3	1	22	1	0	0	0	0	1	0	0	0	6640	1203	42	2	901	2	GPC4	23	132445370	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1097158	132445370	22825190	20839	22985											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				75	282					5.6417e-52	7.01162e-52	1	1	0	T	132833993	G	T	132833993	3	4	22	1	0	0	0	0	1	0	0	0	6639	942	33	2	666	2	GPC3	23	132833993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	388623	132833993	22436567	20840	22986											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				11	623					0	0	1	0	0	A	132887781	G	A	132887781	4	1	22	1	0	0	0	0	0	1	0	0	6639	1124	39	1	1079	1	GPC3	23	132887781	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53788	132887781	22382779	20841	22987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	371					0	0	1	0	0	C	133700087	A	C	133700087	3	2	22	1	0	0	0	0	1	0	0	0	12060	101	4	3	16	3	PLAC1	23	133700087	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	812306	133700087	21570473	20842	22988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													87	311					0	0	1	0	0	T	134305013	C	T	134305013	3	4	22	1	0	0	0	0	1	0	0	0	4134	739	26	2	739	2	CXorf48	23	134305013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	604926	134305013	20965547	20843	22989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000493637.1_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													65	620					0	0	1	0	0	T	134711279	C	T	134711279	2	4	22	1	0	0	0	0	0	0	0	1	4376	755	27	1		1	DDX26B	23	134711279	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	406266	134711279	20559281	20844	22990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370698.3_Missense_Mutation_p.L31I|SLC9A6_ENST00000370701.1_Intron	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													70	217					1.2582e-26	1.451e-26	1	1	0	A	135067752	C	A	135067752	3	1	22	1	0	0	0	0	1	0	0	0	14773	797	28	2	93	2	SLC9A6	23	135067752	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	356473	135067752	20202808	20845	22991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370698.3_Missense_Mutation_p.V353I|SLC9A6_ENST00000370701.1_Missense_Mutation_p.V333I	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													110	392					0	0	1	0	0	A	135095513	G	A	135095513	3	1	22	1	0	0	0	0	1	0	0	0	14773	1029	36	2	1187	2	SLC9A6	23	135095513	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27761	135095513	20175047	20846	22992											
MAP7D3	79649	broad.mit.edu	37	chrX	135314112	135314112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccacagggaatgagtccGtgctcacctcaggggccatg	12	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135314112G>A	ENST00000316077.9	-	8	1224	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	MAP7D3_ENST00000370663.5_Missense_Mutation_p.T317M|MAP7D3_ENST00000370661.1_Missense_Mutation_p.T300M	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	335						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)					GAATGAGTCCGTGCTCACCTC	0.572													173	590					0	0	1	0	0	A	135314112	G	A	135314112	3	1	22	1	0	0	0	0	1	0	0	0	9319	1145	40	1	1670	1	MAP7D3	23	135314112	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	218599	135314112	19956448	20847	22993											
MAP7D3	79649	broad.mit.edu	37	chrX	135326862	135326862	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttcttctttctcttttcGctccttcagctttctctgtc	4	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135326862G>A	ENST00000316077.9	-	4	566	c.346C>T	c.(346-348)Cga>Tga	p.R116*	MAP7D3_ENST00000370663.5_Nonsense_Mutation_p.R98*|MAP7D3_ENST00000370661.1_Nonsense_Mutation_p.R116*	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	116						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)					TTCTCTTTTCGCTCCTTCAGC	0.383													27	578					0	0	1	0	0	A	135326862	G	A	135326862	4	1	22	1	0	0	0	0	0	1	0	0	9319	1095	38	1	2344	1	MAP7D3	23	135326862	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12750	135326862	19943698	20848	22994											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	361					0	0	1	0	0	T	135328253	C	T	135328253	3	4	22	1	0	0	0	0	1	0	0	0	9319	768	27	1	2470	1	MAP7D3	23	135328253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1391	135328253	19942307	20849	22995											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394141.1_Missense_Mutation_p.T865I|GPR112_ENST00000370652.1_Missense_Mutation_p.T1070I|GPR112_ENST00000287534.4_Missense_Mutation_p.T1007I|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													298	1062					0	0	1	0	0	T	135429074	C	T	135429074	3	4	22	1	0	0	0	0	1	0	0	0	6669	565	20	2	3219	2	GPR112	23	135429074	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100821	135429074	19841486	20850	22996											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394141.1_Missense_Mutation_p.A897V|GPR112_ENST00000370652.1_Missense_Mutation_p.A1102V|GPR112_ENST00000287534.4_Missense_Mutation_p.A1039V|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													165	599					0	0	1	0	0	T	135429170	C	T	135429170	3	4	22	1	0	0	0	0	1	0	0	0	6669	710	25	2	3315	2	GPR112	23	135429170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96	135429170	19841390	20851	22997											
GPR112	139378	broad.mit.edu	37	chrX	135430725	135430725	+	Frame_Shift_Del	DEL	A	A	-													atatatgctggggctacttcAaaaaacaaaatggtttcctc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135430725delA	ENST00000394143.1	+	6	5151	c.4860delA	c.(4858-4860)tcfs	p.S1620fs	GPR112_ENST00000287534.4_Frame_Shift_Del_p.S1557fs|GPR112_ENST00000370652.1_Frame_Shift_Del_p.S1620fs|GPR112_ENST00000394141.1_Frame_Shift_Del_p.S1415fs|GPR112_ENST00000412101.1_Frame_Shift_Del_p.S1415fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1620					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)					GGGCTACTTCAAAAAACAAAA	0.428													61	576	---	---	---	---						-	135430725	A	-	135430725	7	5	22	1	0	1	0	1	0	0	0	0	6669	117	5	0	4870	0	GPR112	23	135430725	Frame_Shift_Del	DEL	A	TCGA-IB-7651-01A-11D-2154-08	1555	135430725	19839835	20852	22998											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394141.1_Missense_Mutation_p.I1435L|GPR112_ENST00000370652.1_Missense_Mutation_p.I1640L|GPR112_ENST00000287534.4_Missense_Mutation_p.I1577L|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													25	818					0	0	1	0	0	C	135430783	A	C	135430783	3	2	22	1	0	0	0	0	1	0	0	0	6669	333	12	3	4928	3	GPR112	23	135430783	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	58	135430783	19839777	20853	22999											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													127	488					0	0	1	0	0	G	135581769	T	G	135581769	3	3	22	1	0	0	0	0	1	0	0	0	7477	1841	64	3	205	3	HTATSF1	23	135581769	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	150986	135581769	19688791	20854	23000	157	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													123	498					0	0	1	0	0	A	135581775	G	A	135581775	3	1	22	1	0	0	0	0	1	0	0	0	7477	1319	46	2	211	2	HTATSF1	23	135581775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6	135581775	19688785	20855	23001	157	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													146	480					0	0	1	0	0	G	135593823	A	G	135593823	3	3	22	1	0	0	0	0	1	0	0	0	7477	333	12	3	1953	3	HTATSF1	23	135593823	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12048	135593823	19676737	20856	23002											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	267					0	0	1	0	0	T	135632947	C	T	135632947	3	4	22	1	0	0	0	0	1	0	0	0	17218	884	31	1	665	1	VGLL1	23	135632947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39124	135632947	19637613	20857	23003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													210	710					0	0	1	0	0	A	135862894	G	A	135862894	3	1	22	1	0	0	0	0	1	0	0	0	907	1203	42	2	2270	2	ARHGEF6	23	135862894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	229947	135862894	19407666	20858	23004											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:138727816G>A	ENST00000520602.1	-	4	427	c.140_splice	c.e4-1	p.Q48_splice	MCF2_ENST00000414978.1_Splice_Site_p.Q48_splice|MCF2_ENST00000519895.1_Splice_Site_p.Q48_splice|MCF2_ENST00000370578.4_Splice_Site_p.Q133_splice			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													20	79					0	0	1	0	0	A	138727816	G	A	138727816	5	1	22	1	0	0	0	0	0	0	1	0	9428	1333	46	2	3050	2	MCF2	23	138727816	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2864922	138727816	16542744	20859	23005											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	1275					0	0	1	0	0	C	139866020	A	C	139866020	3	2	22	1	0	0	0	0	1	0	0	0	3193	14	1	3	280	3	CDR1	23	139866020	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1138204	139866020	15404540	20860	23006											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	114					0	0	1	0	0	C	140270770	T	C	140270770	3	2	22	1	0	0	0	0	1	0	0	0	8748	1406	49	3	7	3	LDOC1	23	140270770	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	404750	140270770	14999790	20861	23007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_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													154	569					0	0	1	0	0	A	140969366	G	A	140969366	2	1	22	1	0	0	0	0	0	0	0	1	9232	1020	36	2		2	MAGEC3	23	140969366	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	698596	140969366	14301194	20862	23008											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000298296.1_Silent_p.R580R|MAGEC3_ENST00000536088.1_Missense_Mutation_p.A330T|MAGEC3_ENST00000443323.2_Missense_Mutation_p.A250T|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													121	429					0	0	1	0	0	A	140985426	G	A	140985426	3	1	22	1	0	0	0	0	1	0	0	0	9232	1203	42	2	2137	2	MAGEC3	23	140985426	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16060	140985426	14285134	20863	23009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			275	682					4.13265e-109	5.31965e-109	1	1	0	A	140994053	C	A	140994053	3	1	22	1	0	0	0	0	1	0	0	0	9230	681	24	2	869	2	MAGEC1	23	140994053	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8627	140994053	14276507	20864	23010											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			291	928					1.58129e-95	2.03205e-95	1	1	0	T	140994195	G	T	140994195	3	4	22	1	0	0	0	0	1	0	0	0	9230	1020	36	2	1011	2	MAGEC1	23	140994195	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	142	140994195	14276365	20865	23011											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			439	1579					0	0	1	0	0	T	140994977	C	T	140994977	3	4	22	1	0	0	0	0	1	0	0	0	9230	681	24	2	1793	2	MAGEC1	23	140994977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	782	140994977	14275583	20866	23012											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			247	967					3.64303e-86	4.6696e-86	1	1	0	T	140995885	G	T	140995885	4	4	22	1	0	0	0	0	0	1	0	0	9230	943	33	2	2701	2	MAGEC1	23	140995885	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	908	140995885	14274675	20867	23013											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			206	793					0	0	1	0	0	A	140995998	G	A	140995998	2	1	22	1	0	0	0	0	0	0	0	1	9230	1045	37	1		1	MAGEC1	23	140995998	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113	140995998	14274562	20868	23014											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			140	540					0	0	1	0	0	T	140996169	C	T	140996169	2	4	22	1	0	0	0	0	0	0	0	1	9230	697	25	2		2	MAGEC1	23	140996169	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171	140996169	14274391	20869	23015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356928.1_Missense_Mutation_p.H653R|SLITRK4_ENST00000338017.4_Missense_Mutation_p.H653R	NM_001184749.1|NM_001184750.1|NM_173078.3	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													166	641					0	0	1	0	0	C	142716967	T	C	142716967	3	2	22	1	0	0	0	0	1	0	0	0	14799	1696	59	3	559	3	SLITRK4	23	142716967	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1720798	142716967	12553593	20870	23016											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356928.1_Missense_Mutation_p.K417E|SLITRK4_ENST00000338017.4_Missense_Mutation_p.K417E	NM_001184749.1|NM_001184750.1|NM_173078.3	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													123	397					0	0	1	0	0	C	142717676	T	C	142717676	3	2	22	1	0	0	0	0	1	0	0	0	14799	1763	61	3	1268	3	SLITRK4	23	142717676	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	709	142717676	12552884	20871	23017											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434188.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000413937.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000428560.2_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													29	761					0	0	1	0	0	A	144906288	G	A	144906288	3	1	22	1	0	0	0	0	1	0	0	0	14797	1000	35	2	2347	2	SLITRK2	23	144906288	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2188612	144906288	10364272	20872	23018											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370477.1_Missense_Mutation_p.R433H|FMR1_ENST00000370475.4_Missense_Mutation_p.R454H|FMR1_ENST00000492846.1_3'UTR|FMR1_ENST00000370470.1_Missense_Mutation_p.R454H|FMR1_ENST00000440235.2_Missense_Mutation_p.R101H|FMR1_ENST00000439526.2_Missense_Mutation_p.R431H|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				136	498					0	0	1	0	0	A	147024736	G	A	147024736	3	1	22	1	0	0	0	0	1	0	0	0	5993	1145	40	1	1415	1	FMR1	23	147024736	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2118448	147024736	8245824	20873	23019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370477.1_Missense_Mutation_p.A483D|FMR1_ENST00000370475.4_Missense_Mutation_p.A516D|FMR1_ENST00000370470.1_Splice_Site_p.A491_splice|FMR1_ENST00000440235.2_Missense_Mutation_p.A163D|FMR1_ENST00000439526.2_Missense_Mutation_p.A493D|FMR1_ENST00000370471.3_Splice_Site_p.L426_splice	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				7	81					0.00307968	0.00310409	1	1	0	A	147026464	C	A	147026464	3	1	22	1	0	0	0	0	1	0	0	0	5993	811	28	2	1605	2	FMR1	23	147026464	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1728	147026464	8244096	20874	23020											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	324					0	0	1	0	0	T	147063094	C	T	147063094	3	4	22	1	0	0	0	0	1	0	0	0	5994	759	27	1	174	1	FMR1NB	23	147063094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36630	147063094	8207466	20875	23021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370457.5_Nonsense_Mutation_p.Q278*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.Q278*|AFF2_ENST00000370458.1_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													158	486					0	0	1	0	0	T	147744092	C	T	147744092	4	4	22	1	0	0	0	0	0	1	0	0	356	711	25	2	854	2	AFF2	23	147744092	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	680998	147744092	7526468	20876	23022											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370457.5_Silent_p.S448S|AFF2_ENST00000286437.5_Silent_p.S122S|AFF2_ENST00000342251.3_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													84	682					0	0	1	0	0	T	148035155	C	T	148035155	2	4	22	1	0	0	0	0	0	0	0	1	356	767	27	1		1	AFF2	23	148035155	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	291063	148035155	7235405	20877	23023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370457.5_Missense_Mutation_p.H1049Y|AFF2_ENST00000286437.5_Missense_Mutation_p.H725Y|AFF2_ENST00000342251.3_Missense_Mutation_p.H1051Y	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													67	223					0	0	1	0	0	T	148049205	C	T	148049205	3	4	22	1	0	0	0	0	1	0	0	0	356	710	25	2	3363	2	AFF2	23	148049205	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14050	148049205	7221355	20878	23024											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370457.5_Missense_Mutation_p.A1228V|AFF2_ENST00000286437.5_Missense_Mutation_p.A904V|AFF2_ENST00000342251.3_Missense_Mutation_p.A1230V	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													81	377					0	0	1	0	0	T	148069061	C	T	148069061	3	4	22	1	0	0	0	0	1	0	0	0	356	739	26	2	3921	2	AFF2	23	148069061	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19856	148069061	7201499	20879	23025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370457.5_Missense_Mutation_p.L1275V|AFF2_ENST00000286437.5_Missense_Mutation_p.L951V|AFF2_ENST00000342251.3_Missense_Mutation_p.L1277V	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													164	541					0	0	1	0	0	G	148072854	T	G	148072854	3	3	22	1	0	0	0	0	1	0	0	0	356	1606	56	3	4065	3	AFF2	23	148072854	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3793	148072854	7197706	20880	23026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	610					0	0	1	0	0	T	148797776	C	T	148797776	2	4	22	1	0	0	0	0	0	0	0	1	9211	506	18	2		2	MAGEA11	23	148797776	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	724922	148797776	6472784	20881	23027											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													146	561					1.15969e-74	1.47797e-74	1	1	0	A	148797891	C	A	148797891	3	1	22	1	0	0	0	0	1	0	0	0	9211	796	28	2	772	2	MAGEA11	23	148797891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115	148797891	6472669	20882	23028											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													192	656					0	0	1	0	0	A	149013843	G	A	149013843	3	1	22	1	0	0	0	0	1	0	0	0	9219	1203	42	2	799	2	MAGEA8	23	149013843	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215952	149013843	6256717	20883	23029											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	225					0	0	1	0	0	T	149100935	C	T	149100935	3	4	22	1	0	0	0	0	1	0	0	0	4132	884	31	1	176	1	CXorf40B	23	149100935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87092	149100935	6169625	20884	23030											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	833					0	0	1	0	0	C	149101878	A	C	149101878	3	2	22	1	0	0	0	0	1	0	0	0	4132	304	11	3	269	3	CXorf40B	23	149101878	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	943	149101878	6168682	20885	23031											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000432680.2_Missense_Mutation_p.V144M|MAMLD1_ENST00000262858.5_Missense_Mutation_p.V169M|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000426613.2_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													121	362					0	0	1	0	0	A	149638350	G	A	149638350	3	1	22	1	0	0	0	0	1	0	0	0	9258	1145	40	1	515	1	MAMLD1	23	149638350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	536472	149638350	5632210	20886	23032											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413012.2_Nonsense_Mutation_p.C154*|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Nonsense_Mutation_p.C76*|MTM1_ENST00000542741.1_Nonsense_Mutation_p.C96*	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													103	340					5.60141e-34	6.65258e-34	1	1	0	A	149809786	C	A	149809786	4	1	22	1	0	0	0	0	0	1	0	0	9985	805	28	2	599	2	MTM1	23	149809786	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171436	149809786	5460774	20887	23033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538506.1_3'UTR|MTMR1_ENST00000370390.3_Silent_p.P575P|MTMR1_ENST00000541925.1_Silent_p.P481P|MTMR1_ENST00000544228.1_Silent_p.P575P			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													82	235					9.04243e-43	1.10195e-42	1	1	0	A	149924229	C	A	149924229	2	1	22	1	0	0	0	0	0	0	0	1	9986	668	24	2		2	MTMR1	23	149924229	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114443	149924229	5346331	20888	23034											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													9	328					0	0	1	0	0	A	150156360	G	A	150156360	2	1	22	1	0	0	0	0	0	0	0	1	7268	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	232131	150156360	5114200	20889	23035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	307					5.52034e-35	6.58082e-35	1	1	0	A	150832667	C	A	150832667	3	1	22	1	0	0	0	0	1	0	0	0	11518	912	32	2	956	2	PASD1	23	150832667	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	676307	150832667	4437893	20890	23036											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370354.1_Nonsense_Mutation_p.R42*|PRRG3_ENST00000538575.1_Nonsense_Mutation_p.R34*			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													9	306					0	0	1	0	0	T	150868560	C	T	150868560	4	4	22	1	0	0	0	0	0	1	0	0	12657	760	27	1	106	1	PRRG3	23	150868560	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35893	150868560	4402000	20891	23037											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	224					0	0	1	0	0	A	150889958	G	A	150889958	3	1	22	1	0	0	0	0	1	0	0	0	5726	1145	40	1	336	1	FATE1	23	150889958	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21398	150889958	4380602	20892	23038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													96	258					0	0	1	0	0	A	150911635	G	A	150911635	2	1	22	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	20893	23039											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151092439C>T	ENST00000370340.3	+	3	570	c.303C>T	c.(301-303)gaC>gaT	p.D101D	MAGEA4_ENST00000370337.4_Silent_p.D101D|MAGEA4_ENST00000393920.1_Silent_p.D101D|MAGEA4_ENST00000360243.2_Silent_p.D101D|MAGEA4_ENST00000276344.2_Silent_p.D101D|MAGEA4_ENST00000393921.1_Silent_p.D101D|MAGEA4_ENST00000370335.1_Silent_p.D101D			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													98	344					0	0	1	0	0	T	151092439	C	T	151092439	2	4	22	1	0	0	0	0	0	0	0	1	9216	535	19	1		1	MAGEA4	23	151092439	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180804	151092439	4178121	20894	23040											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000483564.1_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.T321I			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													83	257					0	0	1	0	0	A	151124015	G	A	151124015	3	1	22	1	0	0	0	0	1	0	0	0	6205	1261	44	2	566	2	GABRE	23	151124015	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31576	151124015	4146545	20895	23041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393914.3_Intron|GABRE_ENST00000370328.3_Silent_p.L197L			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													54	364					0	0	1	0	0	A	151129810	G	A	151129810	2	1	22	1	0	0	0	0	0	0	0	1	6205	1161	41	2		2	GABRE	23	151129810	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5795	151129810	4140750	20896	23042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_061028.2	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													93	376					0	0	1	0	0	G	151818234	T	G	151818234	3	3	22	1	0	0	0	0	1	0	0	0	6210	1493	52	3	662	3	GABRQ	23	151818234	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	688424	151818234	3452326	20897	23043											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													206	701					0	0	1	0	0	C	151935444	A	C	151935444	3	2	22	1	0	0	0	0	1	0	0	0	9215	330	12	3	225	3	MAGEA3	23	151935444	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	117210	151935444	3335116	20898	23044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					70	508					0	0	1	0	0	A	151996394	G	A	151996394	2	1	22	1	0	0	0	0	0	0	0	1	3297	1194	42	2		2	CETN2	23	151996394	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60950	151996394	3274166	20899	23045											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													339	1048					8.23087e-121	1.05982e-120	1	1	0	A	152037363	C	A	152037363	3	1	22	1	0	0	0	0	1	0	0	0	10718	912	32	2	851	2	NSDHL	23	152037363	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40969	152037363	3233197	20900	23046											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	335					0	0	1	0	0	T	152159032	C	T	152159032	3	4	22	1	0	0	0	0	1	0	0	0	12204	739	26	2	239	2	PNMA5	23	152159032	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121669	152159032	3111528	20901	23047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370181.2_Intron|ATP2B3_ENST00000349466.2_Missense_Mutation_p.T318S|ATP2B3_ENST00000359149.3_Missense_Mutation_p.T318S|ATP2B3_ENST00000370186.1_Intron|ATP2B3_ENST00000393842.1_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													44	168					0	0	1	0	0	T	152811581	A	T	152811581	3	4	22	1	0	0	0	0	1	0	0	0	1140	275	10	5	974	5	ATP2B3	23	152811581	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	652549	152811581	2458979	20902	23048											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475172.1_5'UTR|PNCK_ENST00000370150.1_Missense_Mutation_p.G131R|PNCK_ENST00000370142.1_Missense_Mutation_p.G131R|PNCK_ENST00000447676.2_Missense_Mutation_p.G214R|PNCK_ENST00000370145.4_Missense_Mutation_p.G148R	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													24	97					0	0	1	0	0	T	152937358	C	T	152937358	3	4	22	1	0	0	0	0	1	0	0	0	12193	623	22	2	668	2	PNCK	23	152937358	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125777	152937358	2333202	20903	23049											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Silent_p.P413P	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													73	214					0	0	1	0	0	A	152960076	G	A	152960076	2	1	22	1	0	0	0	0	0	0	0	1	14745	1074	38	1		1	SLC6A8	23	152960076	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22718	152960076	2310484	20904	23050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538776.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.A85V	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													48	148					0	0	1	0	0	T	153032536	C	T	153032536	3	4	22	1	0	0	0	0	1	0	0	0	12173	739	26	2	378	2	PLXNB3	23	153032536	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72460	153032536	2238024	20905	23051											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538776.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.Q111H	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													31	79					7.26314e-15	7.90818e-15	1	1	0	T	153032615	G	T	153032615	3	4	22	1	0	0	0	0	1	0	0	0	12173	962	34	2	457	2	PLXNB3	23	153032615	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79	153032615	2237945	20906	23052											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538776.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000361971.5_Silent_p.G210G	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													21	78					0	0	1	0	0	A	153032912	G	A	153032912	2	1	22	1	0	0	0	0	0	0	0	1	12173	1248	44	2		2	PLXNB3	23	153032912	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	297	153032912	2237648	20907	23053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538776.1_Missense_Mutation_p.A505V|PLXNB3_ENST00000538282.1_Missense_Mutation_p.A462V|PLXNB3_ENST00000538543.1_3'UTR|PLXNB3_ENST00000361971.5_Missense_Mutation_p.A852V	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													32	120					0	0	1	0	0	T	153037356	C	T	153037356	3	4	22	1	0	0	0	0	1	0	0	0	12173	739	26	2	2727	2	PLXNB3	23	153037356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4444	153037356	2233204	20908	23054											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538776.1_Missense_Mutation_p.R663H|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R620H|PLXNB3_ENST00000361971.5_Missense_Mutation_p.R1010H	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													20	84					0	0	1	0	0	A	153038807	G	A	153038807	3	1	22	1	0	0	0	0	1	0	0	0	12173	1087	38	1	3213	1	PLXNB3	23	153038807	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1451	153038807	2231753	20909	23055											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370093.1_Missense_Mutation_p.E178D|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000427365.2_Missense_Mutation_p.E120D|IDH3G_ENST00000217901.5_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													20	710					3.5997e-14	3.90403e-14	1	1	0	A	153053284	C	A	153053284	3	1	22	1	0	0	0	0	1	0	0	0	7542	796	28	2	738	2	IDH3G	23	153053284	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14477	153053284	2217276	20910	23056											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000337474.5_Missense_Mutation_p.S357Y|AVPR2_ENST00000370049.1_3'UTR			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													98	243					7.43734e-37	8.91631e-37	1	1	0	A	153172136	C	A	153172136	3	1	22	1	0	0	0	0	1	0	0	0	1231	855	30	2	1100	2	AVPR2	23	153172136	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118852	153172136	2098424	20911	23057											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000462086.1_5'UTR|RENBP_ENST00000369997.3_Missense_Mutation_p.V151I|RENBP_ENST00000393700.3_Missense_Mutation_p.V165I			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													47	153					0	0	1	0	0	T	153208501	C	T	153208501	3	4	22	1	0	0	0	0	1	0	0	0	13277	536	19	1	814	1	RENBP	23	153208501	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36365	153208501	2062059	20912	23058											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369984.4_Silent_p.H1297H|HCFC1_ENST00000354233.3_Silent_p.H1228H	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													231	781					0	0	1	0	0	A	153219959	G	A	153219959	2	1	22	1	0	0	0	0	0	0	0	1	7032	1136	40	1		1	HCFC1	23	153219959	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11458	153219959	2050601	20913	23059											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369984.4_Missense_Mutation_p.G896R|HCFC1_ENST00000354233.3_Missense_Mutation_p.G827R	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													126	464					0	0	1	0	0	T	153221812	C	T	153221812	3	4	22	1	0	0	0	0	1	0	0	0	7032	652	23	1	3465	1	HCFC1	23	153221812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1853	153221812	2048748	20914	23060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	157					0	0	1	0	0	A	153223480	G	A	153223480	3	1	22	1	0	0	0	0	1	0	0	0	7032	971	34	2	4147	2	HCFC1	23	153223480	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1668	153223480	2047080	20915	23061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	123					0	0	1	0	0	A	153247784	G	A	153247784	3	1	22	1	0	0	0	0	1	0	0	0	16169	971	34	2	273	2	TMEM187	23	153247784	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24304	153247784	2022776	20916	23062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	137					0	0	1	0	0	A	153248033	G	A	153248033	3	1	22	1	0	0	0	0	1	0	0	0	16169	1087	38	1	522	1	TMEM187	23	153248033	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249	153248033	2022527	20917	23063											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369856.3_Missense_Mutation_p.K422N|FLNA_ENST00000360319.4_Missense_Mutation_p.K2281N|FLNA_ENST00000369850.3_Missense_Mutation_p.K2289N|FLNA_ENST00000344736.4_Missense_Mutation_p.K2249N	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													76	246					5.21738e-30	6.11032e-30	1	1	0	A	153580292	C	A	153580292	3	1	22	1	0	0	0	0	1	0	0	0	5966	680	24	2	1104	2	FLNA	23	153580292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	332259	153580292	1690268	20918	23064											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360319.4_Missense_Mutation_p.A1160S|FLNA_ENST00000369850.3_Missense_Mutation_p.A1160S|FLNA_ENST00000344736.4_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	73	241					2.48295e-43	3.03066e-43	1	1	0	A	153588685	C	A	153588685	3	1	22	1	0	0	0	0	1	0	0	0	5966	768	27	4	4573	4	FLNA	23	153588685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8393	153588685	1681875	20919	23065											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360319.4_Missense_Mutation_p.G881S|FLNA_ENST00000369850.3_Missense_Mutation_p.G881S|FLNA_ENST00000344736.4_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													110	382					0	0	1	0	0	T	153590625	C	T	153590625	3	4	22	1	0	0	0	0	1	0	0	0	5966	594	21	2	5426	2	FLNA	23	153590625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1940	153590625	1679935	20920	23066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360319.4_Missense_Mutation_p.S757N|FLNA_ENST00000369850.3_Missense_Mutation_p.S757N|FLNA_ENST00000344736.4_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													36	766					0	0	1	0	0	T	153592400	C	T	153592400	3	4	22	1	0	0	0	0	1	0	0	0	5966	797	28	2	5809	2	FLNA	23	153592400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1775	153592400	1678160	20921	23067											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360319.4_Silent_p.S748S|FLNA_ENST00000369850.3_Silent_p.S748S|FLNA_ENST00000344736.4_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													147	553					8.60981e-72	1.0949e-71	1	1	0	T	153592426	G	T	153592426	2	4	22	1	0	0	0	0	0	0	0	1	5966	987	35	2		2	FLNA	23	153592426	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26	153592426	1678134	20922	23068											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000406022.2_Silent_p.Q8Q|RPL10_ENST00000369817.2_Silent_p.Q59Q	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													122	365					0	0	1	0	0	A	153627922	G	A	153627922	2	1	22	1	0	0	0	0	0	0	0	1	13606	962	34	2		2	RPL10	23	153627922	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35496	153627922	1642638	20923	23069											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000351413.4_Missense_Mutation_p.L115W|TAZ_ENST00000369776.4_Missense_Mutation_p.L90W|TAZ_ENST00000369790.4_Missense_Mutation_p.L115W	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													68	281					0	0	1	0	0	G	153641878	T	G	153641878	3	3	22	1	0	0	0	0	1	0	0	0	15653	1821	63	3	358	3	TAZ	23	153641878	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13956	153641878	1628682	20924	23070											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	204					9.77497e-20	1.09193e-19	1	1	0	A	153663798	C	A	153663798	3	1	22	1	0	0	0	0	1	0	0	0	1163	681	24	2	1184	2	ATP6AP1	23	153663798	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21920	153663798	1606762	20925	23071											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_059984.2	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													8	540					0	0	1	0	0	A	153691782	G	A	153691782	3	1	22	1	0	0	0	0	1	0	0	0	12169	1145	40	1	1380	1	PLXNA3	23	153691782	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27984	153691782	1578778	20926	23072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_059984.2	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													28	96					1.42536e-11	1.52187e-11	1	1	0	A	153692584	C	A	153692584	3	1	22	1	0	0	0	0	1	0	0	0	12169	680	24	2	1782	2	PLXNA3	23	153692584	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	802	153692584	1577976	20927	23073											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_059984.2	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													62	226					0	0	1	0	0	A	153694277	G	A	153694277	5	1	22	1	0	0	0	0	0	0	1	0	12169	956	33	2	2582	2	PLXNA3	23	153694277	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1693	153694277	1576283	20928	23074											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_059984.2	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													12	47					0	0	1	0	0	A	153695925	G	A	153695925	3	1	22	1	0	0	0	0	1	0	0	0	12169	1087	38	1	3553	1	PLXNA3	23	153695925	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1648	153695925	1574635	20929	23075											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_059984.2	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													70	267					0	0	1	0	0	A	153697552	G	A	153697552	3	1	22	1	0	0	0	0	1	0	0	0	12169	1174	41	2	4686	2	PLXNA3	23	153697552	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1627	153697552	1573008	20930	23076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_059984.2	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													52	413					0	0	1	0	0	A	153698803	G	A	153698803	3	1	22	1	0	0	0	0	1	0	0	0	12169	1145	40	1	5119	1	PLXNA3	23	153698803	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1251	153698803	1571757	20931	23077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_059984.2	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													118	518					0	0	1	0	0	T	153698908	C	T	153698908	3	4	22	1	0	0	0	0	1	0	0	0	12169	768	27	1	5224	1	PLXNA3	23	153698908	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105	153698908	1571652	20932	23078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369649.4_Silent_p.V264V|SLC10A3_ENST00000393587.4_Silent_p.V293V|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													121	369					9.67539e-52	1.20159e-51	1	1	0	A	153716401	C	A	153716401	2	1	22	1	0	0	0	0	0	0	0	1	14430	581	21	2		2	SLC10A3	23	153716401	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17493	153716401	1554159	20933	23079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369649.4_Missense_Mutation_p.P128H|SLC10A3_ENST00000393587.4_Missense_Mutation_p.P157H|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													157	487					8.02008e-65	1.01376e-64	1	1	0	T	153716810	G	T	153716810	3	4	22	1	0	0	0	0	1	0	0	0	14430	1232	43	2	967	2	SLC10A3	23	153716810	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	409	153716810	1553750	20934	23080											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	305					0	0	1	0	0	T	153927748	C	T	153927748	3	4	22	1	0	0	0	0	1	0	0	0	6185	565	20	2	617	2	GAB3	23	153927748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	210938	153927748	1342812	20935	23081											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	143					0	0	1	0	0	T	154156894	C	T	154156894	3	4	22	1	0	0	0	0	1	0	0	0	5378	681	24	2	1964	2	F8	23	154156894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	229146	154156894	1113666	20936	23082											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	489					0	0	1	0	0	A	154175987	G	A	154175987	3	1	22	1	0	0	0	0	1	0	0	0	5378	1059	37	1	5040	1	F8	23	154175987	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19093	154175987	1094573	20937	23083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	296					0	0	1	0	0	A	154507346	G	A	154507346	3	1	22	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	20938	23084											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													294	669					0	0	1	0	0	C	12316444	G	C	12316444	3	2	23	1	0	0	0	0	1	0	0	0	17252	1377	48	5	750	5	VPS13D	1	12316444	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08		12316444	236934177	1	23085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373388.2_Missense_Mutation_p.R318H|CSMD2_ENST00000373380.1_Missense_Mutation_p.R1092H|CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373377.1_Missense_Mutation_p.R318H	NM_052896.3	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													39	177					0	0	1	0	0	T	34068023	C	T	34068023	3	4	23	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	21751579	34068023	215182598	2	23086											
B4GALT2	8704	broad.mit.edu	37	chr1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-													atgccctccacccagctgctAgcagcagcagcagcagcagc					rs72406230		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)del	p.S65del	B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					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)	CCCAGCTGCTagcagcagcagca	0.685													7	340	---	---	---	---						-	44447009	AGC	-	44447007	7	5	23	1	0	1	0	1	0	0	0	0	1269	420	15	0	177	0	B4GALT2	1	44447007	In_Frame_Del	DEL	AGC	TCGA-IB-7652-01A-11D-2154-08	10378984	44447007	204803614	3	23087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	NM_004799.2	NP_004790.2	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													83	400					0	0	1	0	0	C	52740258	T	C	52740258	5	2	23	1	0	0	0	0	0	0	1	0	17729	1652	57	3	2781	3	ZFYVE9	1	52740258	Splice_Site	SNP	T	TCGA-IB-7652-01A-11D-2154-08	8293251	52740258	196510363	4	23088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000316361.4_Missense_Mutation_p.G17V|KCNA2_ENST00000440270.1_Missense_Mutation_p.G17V|KCNA2_ENST00000369770.3_Missense_Mutation_p.G17V|KCNA2_ENST00000525120.1_Intron			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													149	764					2.2932e-79	2.71384e-79	1	1	0	A	111147355	C	A	111147355	3	1	23	1	0	0	0	0	1	0	0	0	8047	623	22	2	1453	2	KCNA2	1	111147355	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	58407097	111147355	138103266	5	23089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				40	1782					0	0	1	0	0	A	152284997	G	A	152284997	3	1	23	1	0	0	0	0	1	0	0	0	5955	1145	40	1	9824	1	FLG	1	152284997	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	41137642	152284997	96965624	6	23090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Nonsense_Mutation_p.R431*			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													78	338					0	0	1	0	0	T	171254564	C	T	171254564	4	4	23	1	0	0	0	0	0	1	0	0	5987	644	23	1	1510	1	FMO1	1	171254564	Nonsense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	18969567	171254564	77996057	7	23091											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_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													116	561					0	0	1	0	0	T	197071382	C	T	197071382	2	4	23	1	0	0	0	0	0	0	0	1	1055	912	32	2		2	ASPM	1	197071382	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	25816818	197071382	52179239	8	23092											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:233394271G>C	ENST00000258229.8	-	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)	446						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													106	376					0	0	1	0	0	C	233394271	G	C	233394271	3	2	23	1	0	0	0	0	1	0	0	0	11639	1232	43	5	5196	5	PCNXL2	1	233394271	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	36322889	233394271	15856350	9	23093											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			113	546					0	0	1	0	0	A	141641448	T	A	141641448	3	1	23	1	0	0	0	0	1	0	0	0	9000	1780	62	5	9960	5	LRP1B	2	141641448	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08		141641448	101557925	10	23094											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375405.3_Silent_p.I1771I|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.I1754I|SCN1A_ENST00000303395.4_Silent_p.I1782I	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													190	914					0	0	1	0	0	A	166848439	G	A	166848439	2	1	23	1	0	0	0	0	0	0	0	1	13968	1048	37	1		1	SCN1A	2	166848439	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08	25206991	166848439	76350934	11	23095											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:197208385C>G	ENST00000260983.2	-	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	132					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													79	1027					0	0	1	0	0	G	197208385	C	G	197208385	3	3	23	1	0	0	0	0	1	0	0	0	7084	594	21	5	4430	5	HECW2	2	197208385	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	30359946	197208385	45990988	12	23096											
ALS2CR11	151254	broad.mit.edu	37	chr2	202352352	202352352	+	Frame_Shift_Del	DEL	T	T	-													ttttcaatatcctcttttaaTtttttttggccgcattttat							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:202352352delT	ENST00000439140.1	-	16	5490	c.5446delA	c.(5446-5448)ttfs	p.I1816fs	ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs|ALS2CR11_ENST00000439802.1_3'UTR	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	619										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTCTTTTAATTTTTTTTGGC	0.323													8	581	---	---	---	---						-	202352352	T	-	202352352	7	5	23	1	0	1	0	1	0	0	0	0	548	1493	52	0	20	0	ALS2CR11	2	202352352	Frame_Shift_Del	DEL	T	TCGA-IB-7652-01A-11D-2154-08	5143967	202352352	40847021	13	23097											
SLC4A3	6508	broad.mit.edu	37	chr2	220496799	220496801	+	In_Frame_Del	DEL	GAA	GAA	-													ctggcccccatccttcgcagGaagaagaagaagaaaaagct							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:220496799_220496801delGAA	ENST00000358055.3	+	7	1433_1435	c.921_923delGAA	c.(919-924)agg>ag	p.RK307del	SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del|SLC4A3_ENST00000317151.3_In_Frame_Del_p.RK307del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del|SLC4A3_ENST00000273063.6_In_Frame_Del_p.RK334del			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	307					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)		TCCTTCGCAGGAAGAAGAAGAAG	0.65													7	424	---	---	---	---						-	220496801	GAA	-	220496799	7	5	23	1	0	1	0	1	0	0	0	0	14710	1165	41	0	1024	0	SLC4A3	2	220496799	In_Frame_Del	DEL	GAA	TCGA-IB-7652-01A-11D-2154-08	18144447	220496799	22702574	14	23098											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	226					0	0	1	0	0	G	239342283	C	G	239342283	4	3	23	1	0	0	0	0	0	1	0	0	1012	547	19	5	144	5	ASB1	2	239342283	Nonsense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	18845484	239342283	3857090	15	23099											
NKTR	4820	broad.mit.edu	37	chr3	42680269	42680271	+	In_Frame_Del	DEL	GAG	GAG	-													ctccactagaatttggtgaaGaggaggaggaggagattgat							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:42680269_42680271delGAG	ENST00000232978.8	+	13	3261_3263	c.3073_3075delGAG	c.(3073-3075)del	p.E1029del	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	1029					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)		ATTTGGTGAAGAGGAGGAGGAGG	0.355													7	613	---	---	---	---						-	42680271	GAG	-	42680269	7	5	23	1	0	1	0	1	0	0	0	0	10495	943	33	0	3119	0	NKTR	3	42680269	In_Frame_Del	DEL	GAG	TCGA-IB-7652-01A-11D-2154-08		42680269	155342161	16	23100											
CACNA2D3	55799	broad.mit.edu	37	chr3	55021718	55021719	+	Frame_Shift_Del	DEL	CT	CT	-													tcttccccatagactggagaCttttttggtgagatcgaggg							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:55021718_55021719delCT	ENST00000474759.1	+	31	2676_2677	c.2628_2629delCT	c.(2626-2631)gattfs	p.DF876fs	CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000415676.2_Frame_Shift_Del_p.DF876fs|CACNA2D3_ENST00000288197.5_Frame_Shift_Del_p.DF876fs|CACNA2D3_ENST00000490478.1_Frame_Shift_Del_p.DF782fs	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	876						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)		AGACTGGAGACTTTTTTGGTGA	0.436													26	156	---	---	---	---						-	55021719	CT	-	55021718	7	5	23	1	0	1	0	1	0	0	0	0	2568	564	20	0	2750	0	CACNA2D3	3	55021718	Frame_Shift_Del	DEL	CT	TCGA-IB-7652-01A-11D-2154-08	12341449	55021718	143000712	17	23101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348383.5_Missense_Mutation_p.E1033K|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			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													119	534					0	0	1	0	0	A	58107201	G	A	58107201	3	1	23	1	0	0	0	0	1	0	0	0	5967	1175	41	2	3175	2	FLNB	3	58107201	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	3085483	58107201	139915229	18	23102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348383.5_Nonsense_Mutation_p.C1952*|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*			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													11	122					0	0	1	0	0	A	58134060	T	A	58134060	4	1	23	1	0	0	0	0	0	1	0	0	5967	1673	58	5	6091	5	FLNB	3	58134060	Nonsense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	26859	58134060	139888370	19	23103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	143					0	0	1	0	0	G	108270112	C	G	108270112	3	3	23	1	0	0	0	0	1	0	0	0	8281	922	32	5	119	5	KIAA1524	3	108270112	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	50136052	108270112	89752318	20	23104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	200					9.16793e-09	9.85799e-09	1	1	0	T	132209833	G	T	132209833	3	4	23	1	0	0	0	0	1	0	0	0	4659	1020	36	2	3683	2	DNAJC13	3	132209833	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	23939721	132209833	65812597	21	23105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	345					0	0	1	0	0	C	137849964	G	C	137849964	2	2	23	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	22	23106											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)gfs	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					12	453	---	---	---	---						-	142243004	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	-	142242967	7	5	23	1	0	1	0	1	0	0	0	0	1202	825	29	0	4018	0	ATR	3	142242967	Frame_Shift_Del	DEL	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	TCGA-IB-7652-01A-11D-2154-08	4393003	142242967	55779463	23	23107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475231.1_Silent_p.R464R|MUC4_ENST00000349607.4_Intron|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													15	755					0.000219431	0.000226218	1	1	0	A	195517059	C	A	195517059	2	1	23	1	0	0	0	0	0	0	0	1	10026	726	26	2		2	MUC4	3	195517059	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	53274092	195517059	2505371	24	23108											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000439371.1_Missense_Mutation_p.T278A|GRSF1_ENST00000502323.1_Missense_Mutation_p.T278A|GRSF1_ENST00000545193.1_Missense_Mutation_p.T322A|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083.3	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													23	108					0	0	1	0	0	C	71691088	T	C	71691088	3	2	23	1	0	0	0	0	1	0	0	0	6850	1696	59	3	132	3	GRSF1	4	71691088	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08		71691088	119463188	25	23109											
PRDM8	56978	broad.mit.edu	37	chr4	81123250	81123252	+	In_Frame_Del	DEL	CAG	CAG	-													gcggcggcggtggcaaagacCagcagcagcagcagcaggag							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:81123250_81123252delCAG	ENST00000339711.4	+	10	1865_1867	c.634_636delCAG	c.(634-636)del	p.Q217del	PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				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						tggcaaagaccagcagcagcagc	0.655											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	333	---	---	---	---						-	81123252	CAG	-	81123250	7	5	23	1	0	1	0	1	0	0	0	0	12514	595	21	0	644	0	PRDM8	4	81123250	In_Frame_Del	DEL	CAG	TCGA-IB-7652-01A-11D-2154-08	9432162	81123250	110031026	26	23110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000511467.1_Silent_p.P1337P|PTPN13_ENST00000316707.6_Silent_p.P1146P|PTPN13_ENST00000427191.2_Silent_p.P1318P|PTPN13_ENST00000411767.2_Silent_p.P1337P	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													94	462					0	0	1	0	0	T	87684337	A	T	87684337	2	4	23	1	0	0	0	0	0	0	0	1	12832	117	5	5		5	PTPN13	4	87684337	Silent	SNP	A	TCGA-IB-7652-01A-11D-2154-08	6561087	87684337	103469939	27	23111											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	397					0	0	1	0	0	G	126371342	C	G	126371342	3	3	23	1	0	0	0	0	1	0	0	0	5725	816	29	5	9205	5	FAT4	4	126371342	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	38687005	126371342	64782934	28	23112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:134072871T>G	ENST00000264360.4	+	1	2402	c.1576T>G	c.(1576-1578)Tac>Gac	p.Y526D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	526	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													79	407					0	0	1	0	0	G	134072871	T	G	134072871	3	3	23	1	0	0	0	0	1	0	0	0	11554	1638	57	3	1578	3	PCDH10	4	134072871	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	7701529	134072871	57081405	29	23113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				17	69					2.37509e-13	2.62441e-13	1	1	0	T	1253880	G	T	1253880	3	4	23	1	0	0	0	0	1	0	0	0	15823	1116	39	4	40	4	TERT	5	1253880	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08		1253880	179661380	30	23114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)acc>ac	p.TPKSPKCRAEG2016del	PDZD2_ENST00000282493.3_In_Frame_Del_p.TPKSPKCRAEG2016del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2016					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													37	1176	---	---	---	---						-	32089631	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	-	32089602	7	5	23	1	0	1	0	1	0	0	0	0	11748	610	22	0	6122	0	PDZD2	5	32089602	In_Frame_Del	DEL	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	TCGA-IB-7652-01A-11D-2154-08	30835722	32089602	148825658	31	23115											
RASGRF2	5924	broad.mit.edu	37	chr5	80409566	80409568	+	In_Frame_Del	DEL	CCA	CCA	-													cctgacaacttccagcagtcCcaccaccaccacccagagtc							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:80409566_80409568delCCA	ENST00000265080.4	+	15	2364_2366	c.2297_2299delCCA	c.(2296-2301)ccc>c	p.PT766del	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	766					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)		TCCAGCAGTCCCACCACCACCAC	0.562													7	359	---	---	---	---						-	80409568	CCA	-	80409566	7	5	23	1	0	1	0	1	0	0	0	0	13125	623	22	0	2355	0	RASGRF2	5	80409566	In_Frame_Del	DEL	CCA	TCGA-IB-7652-01A-11D-2154-08	48319964	80409566	100505694	32	23116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000513675.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.C444Y|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.C506Y|SLCO6A1_ENST00000379810.1_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													32	159					0	0	1	0	0	T	101748803	C	T	101748803	3	4	23	1	0	0	0	0	1	0	0	0	14787	478	17	2	662	2	SLCO6A1	5	101748803	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	21339237	101748803	79166457	33	23117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	148					0	0	1	0	0	A	132535363	G	A	132535363	2	1	23	1	0	0	0	0	0	0	0	1	6114	1252	44	2		2	FSTL4	5	132535363	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08	30786560	132535363	48379897	34	23118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	508					0	0	1	0	0	G	137803753	A	G	137803753	3	3	23	1	0	0	0	0	1	0	0	0	4997	275	10	3	1621	3	EGR1	5	137803753	Missense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08	5268390	137803753	43111507	35	23119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A503V|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A503V|PCDHA1_ENST00000394633.3_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													60	361					0	0	1	0	0	T	140188280	C	T	140188280	3	4	23	1	0	0	0	0	1	0	0	0	11573	768	27	1	1510	1	PCDHA4	5	140188280	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	2384527	140188280	40726980	36	23120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A456T	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													84	483					0	0	1	0	0	A	140215334	G	A	140215334	3	1	23	1	0	0	0	0	1	0	0	0	11576	1087	38	1	1368	1	PCDHA7	5	140215334	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	27054	140215334	40699926	37	23121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	411					0	0	1	0	0	T	149001460	C	T	149001460	2	4	23	1	0	0	0	0	0	0	0	1	903	639	23	1		1	ARHGEF37	5	149001460	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	8786126	149001460	31913800	38	23122											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	552					2.68927e-46	3.09112e-46	1	1	0	T	150923942	G	T	150923942	3	4	23	1	0	0	0	0	1	0	0	0	5723	971	34	2	6363	2	FAT2	5	150923942	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	1922482	150923942	29991318	39	23123											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	245					0	0	1	0	0	T	151049237	C	T	151049237	3	4	23	1	0	0	0	0	1	0	0	0	15051	652	23	1	492	1	SPARC	5	151049237	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	125295	151049237	29866023	40	23124											
GALNT10	55568	broad.mit.edu	37	chr5	153755873	153755873	+	Frame_Shift_Del	DEL	T	T	-													tcttgaagactacatggcccTtttccccagtgtgaggattc							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:153755873delT	ENST00000297107.6	+	5	742	c.605delT	c.(604-606)ctfs	p.L202fs	GALNT10_ENST00000377661.2_Intron|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Frame_Shift_Del_p.L202fs	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	202	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)			TACATGGCCCTTTTCCCCAGT	0.502													8	1010	---	---	---	---						-	153755873	T	-	153755873	7	5	23	1	0	1	0	1	0	0	0	0	6248	1609	56	0	623	0	GALNT10	5	153755873	Frame_Shift_Del	DEL	T	TCGA-IB-7652-01A-11D-2154-08	2706636	153755873	27159387	41	23125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								121	636					0	0	1	0	0	T	156608099	C	T	156608099	2	4	23	1	0	0	0	0	0	0	0	1	7953	738	26	2		2	ITK	5	156608099	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	2852226	156608099	24307161	42	23126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.R189W	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													38	303					0	0	1	0	0	A	180057054	G	A	180057054	3	1	23	1	0	0	0	0	1	0	0	0	5977	1086	38	1	3638	1	FLT4	5	180057054	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	23448955	180057054	858206	43	23127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													155	731					0	0	1	0	0	A	20490617	G	A	20490617	3	1	23	1	0	0	0	0	1	0	0	0	4894	1058	37	1	1380	1	E2F3	6	20490617	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08		20490617	150624450	44	23128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													157	757					3.63811e-69	4.23036e-69	1	1	0	A	29365221	C	A	29365221	3	1	23	1	0	0	0	0	1	0	0	0	10979	913	32	2	747	2	OR12D2	6	29365221	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	8874604	29365221	141749846	45	23129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	421					0	0	1	0	0	C	84233558	T	C	84233558	3	2	23	1	0	0	0	0	1	0	0	0	12673	1435	50	3	400	3	PRSS35	6	84233558	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	54868337	84233558	86881509	46	23130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	227					0	0	1	0	0	G	108985160	C	G	108985160	3	3	23	1	0	0	0	0	1	0	0	0	6058	507	18	5	1130	5	FOXO3	6	108985160	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	24751602	108985160	62129907	47	23131											
ZBTB24	9841	broad.mit.edu	37	chr6	109802729	109802729	+	Frame_Shift_Del	DEL	T	T	-													tcctcctgcaatgtattgacTttttttggtcttccccgttt							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:109802729delT	ENST00000230122.3	-	2	668	c.501delA	c.(499-501)aafs	p.K167fs		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		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;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		ATGTATTGACTTTTTTTGGTC	0.418													7	1461	---	---	---	---						-	109802729	T	-	109802729	7	5	23	1	0	1	0	1	0	0	0	0	17590	1606	56	0	1666	0	ZBTB24	6	109802729	Frame_Shift_Del	DEL	T	TCGA-IB-7652-01A-11D-2154-08	817569	109802729	61312338	48	23132											
SYNE1	23345	broad.mit.edu	37	chr6	152539540	152539540	+	Splice_Site	DEL	T	T	-													cataatcaagaactccagccTttttttccacaaaagaaatt					rs35128811		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:152539540delT	ENST00000367255.5	-	121	22646		c.e121-2		SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site	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)		AACTCCAGCCTTTTTTTCCAC	0.343										HNSCC(10;0.0054)			10	1318	---	---	---	---						-	152539540	T	-	152539540	8	5	23	1	0	1	0	1	0	0	1	0	15502	1623	56	0	4527	0	SYNE1	6	152539540	Splice_Site	DEL	T	TCGA-IB-7652-01A-11D-2154-08	42736811	152539540	18575527	49	23133											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366896.1_Missense_Mutation_p.F7L|PARK2_ENST00000366897.1_Missense_Mutation_p.F7L|PARK2_ENST00000366892.1_Missense_Mutation_p.F7L	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													19	294					1.00905e-13	1.12116e-13	1	1	0	T	162864492	G	T	162864492	3	4	23	1	0	0	0	0	1	0	0	0	11496	1281	45	2	1420	2	PARK2	6	162864492	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	10324952	162864492	8250575	50	23134											
GTF2I	2969	broad.mit.edu	37	chr7	74149837	74149840	+	Frame_Shift_Del	DEL	AAGA	AAGA	-													tatgccagaatcactaaattAagaaagatggtggatcagct							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:74149837_74149840delAAGA	ENST00000324896.4	+	17	1787_1790	c.1398_1401delAAGA	c.(1396-1401)ttfs	p.LR466fs	GTF2I_ENST00000416070.1_Frame_Shift_Del_p.LR425fs|GTF2I_ENST00000353920.4_Frame_Shift_Del_p.LR446fs|GTF2I_ENST00000346152.4_Frame_Shift_Del_p.LR445fs	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	466					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						TCACTAAATTAAGAAAGATGGTGG	0.275													7	32	---	---	---	---						-	74149840	AAGA	-	74149837	7	5	23	1	0	1	0	1	0	0	0	0	6908	359	13	0	1460	0	GTF2I	7	74149837	Frame_Shift_Del	DEL	AAGA	TCGA-IB-7652-01A-11D-2154-08		74149837	84988826	51	23135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	604					0	0	1	0	0	T	128478769	A	T	128478769	3	4	23	1	0	0	0	0	1	0	0	0	5968	272	10	5	1353	5	FLNC	7	128478769	Missense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08	54328932	128478769	30659894	52	23136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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													68	288					0	0	1	0	0	T	144097345	C	T	144097345	3	4	23	1	0	0	0	0	1	0	0	0	10559	768	27	1	1098	1	NOBOX	7	144097345	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	15618576	144097345	15041318	53	23137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	53					0	0	1	0	0	T	1497384	C	T	1497384	2	4	23	1	0	0	0	0	0	0	0	1	4588	535	19	1		1	DLGAP2	8	1497384	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08		1497384	144866638	54	23138											
NEFL	4747	broad.mit.edu	37	chr8	24811843	24811843	+	RNA	DEL	A	A	-													tttgaagacaaaaataaaacAaaaaaaaaatccgagcataa							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:24811843delA	ENST00000221169.5	-	0	1639							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)		AAAATAAAACAAAAAAAAAAT	0.328													15	273	---	---	---	---						-	24811843	A	-	24811843	6	5	23	0	1	1	0	1	0	0	0	0	10362	145	5	0		0	NEFL	8	24811843	RNA	DEL	A	TCGA-IB-7652-01A-11D-2154-08	23314459	24811843	121552179	55	23139											
GTF2E2	2961	broad.mit.edu	37	chr8	30511012	30511014	+	In_Frame_Del	DEL	GAT	GAT	-													ttgttttcttcttctttgacGatgatgatgatgactcagaa					rs113662547		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:30511012_30511014delGAT	ENST00000355904.4	-	2	384_386	c.102_104delATC	c.(100-105)tcg>tc	p.SS34del		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	34	Poly-Ser.				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CTTCTTTGACGATGATGATGATG	0.384													8	797	---	---	---	---						-	30511014	GAT	-	30511012	7	5	23	1	0	1	0	1	0	0	0	0	6898	1059	37	0	799	0	GTF2E2	8	30511012	In_Frame_Del	DEL	GAT	TCGA-IB-7652-01A-11D-2154-08	5699169	30511012	115853010	56	23140											
WHSC1L1	54904	broad.mit.edu	37	chr8	38205092	38205092	+	Frame_Shift_Del	DEL	T	T	-													tgatgagtcatgcttgttgcTttttttcctcttttcttttc							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:38205092delT	ENST00000317025.8	-	2	1115	c.598delA	c.(598-600)gcfs	p.S200fs	WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	200					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)			TGCTTGTTGCTTTTTTTCCTC	0.378			T	NUP98	AML								8	912	---	---	---	---						-	38205092	T	-	38205092	7	5	23	1	0	1	0	1	0	0	0	0	17423	1609	56	0	3894	0	WHSC1L1	8	38205092	Frame_Shift_Del	DEL	T	TCGA-IB-7652-01A-11D-2154-08	7694080	38205092	108158930	57	23141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_653252.3	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													17	365					0	0	1	0	0	T	52384855	C	T	52384855	3	4	23	1	0	0	0	0	1	0	0	0	12900	884	31	1	3751	1	PXDNL	8	52384855	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	14179763	52384855	93979167	58	23142											
COL14A1	7373	broad.mit.edu	37	chr8	121240956	121240956	+	Frame_Shift_Del	DEL	T	T	-													atattgcttttagttgacagTttttggacagaaccagctac							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:121240956delT	ENST00000297848.3	+	18	2415	c.2145delT	c.(2143-2145)agfs	p.S715fs	COL14A1_ENST00000309791.4_Frame_Shift_Del_p.S715fs|COL14A1_ENST00000247781.3_Frame_Shift_Del_p.S620fs|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	715					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)			TAGTTGACAGTTTTTGGACAG	0.333													7	590	---	---	---	---						-	121240956	T	-	121240956	7	5	23	1	0	1	0	1	0	0	0	0	3694	1722	60	0	2211	0	COL14A1	8	121240956	Frame_Shift_Del	DEL	T	TCGA-IB-7652-01A-11D-2154-08	68856101	121240956	25123066	59	23143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	1121					0	0	1	0	0	A	107267140	G	A	107267140	3	1	23	1	0	0	0	0	1	0	0	0	10989	1319	46	2	599	2	OR13F1	9	107267140	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08		107267140	33946291	60	23144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	652					0	0	1	0	0	G	113169147	C	G	113169147	3	3	23	1	0	0	0	0	1	0	0	0	15476	680	24	5	2026	5	SVEP1	9	113169147	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	5902007	113169147	28044284	61	23145											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000309989.1_Missense_Mutation_p.R844S|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R940S			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													10	60					0.00010058	0.000104771	1	1	0	T	124535711	G	T	124535711	3	4	23	1	0	0	0	0	1	0	0	0	4243	1194	42	2	2866	2	DAB2IP	9	124535711	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	11366564	124535711	16677720	62	23146											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373698.5_5'UTR|PTGS1_ENST00000540753.1_Silent_p.L66L	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|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													117	580					2.51308e-46	2.90529e-46	1	1	0	T	125140773	G	T	125140773	2	4	23	1	0	0	0	0	0	0	0	1	12805	1306	46	2		2	PTGS1	9	125140773	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08	605062	125140773	16072658	63	23147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	224					0	0	1	0	0	A	125563309	G	A	125563309	3	1	23	1	0	0	0	0	1	0	0	0	11010	1058	37	1	910	1	OR1K1	9	125563309	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	422536	125563309	15650122	64	23148											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													3	62					0	0	1	0	0	A	133540159	G	A	133540159	3	1	23	1	0	0	0	0	1	0	0	0	12505	1087	38	1	121	1	PRDM12	9	133540159	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	7976850	133540159	7673272	65	23149											
TTF1	7270	broad.mit.edu	37	chr9	135277201	135277202	+	Frame_Shift_Ins	INS	-	-	T													cctggtgattggactttttcINSttttttttcttagacttgtt							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:135277201_135277202insT	ENST00000334270.2	-	2	1046_1047	c.1007_1008insA	c.(1006-1008)aaafs	p.K336fs		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	336	Poly-Lys.				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)		TGGACTTTTTCTTTTTTTTCTT	0.51													7	1113	---	---	---	---						T	135277202	-	T	135277201	7	5	23	1	0	1	1	0	0	0	0	0	16780	912	32	0	1749	0	TTF1	9	135277201	Frame_Shift_Ins	INS	-	TCGA-IB-7652-01A-11D-2154-08	1737042	135277201	5936230	66	23150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438527.3_Missense_Mutation_p.R635T|DDX31_ENST00000372153.1_Missense_Mutation_p.R691T	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													126	611					0	0	1	0	0	G	135487492	C	G	135487492	3	3	23	1	0	0	0	0	1	0	0	0	4379	681	24	5	272	5	DDX31	9	135487492	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	210291	135487492	5725939	67	23151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000393060.1_Missense_Mutation_p.R61H|ADAMTSL2_ENST00000354484.4_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													51	244					0	0	1	0	0	A	136402618	G	A	136402618	3	1	23	1	0	0	0	0	1	0	0	0	274	1087	38	1	188	1	ADAMTSL2	9	136402618	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	915126	136402618	4810813	68	23152											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000490355.2_Silent_p.A945A|KCNT1_ENST00000263604.3_Silent_p.A947A|KCNT1_ENST00000488444.2_Silent_p.A947A|KCNT1_ENST00000487664.1_Silent_p.A921A|KCNT1_ENST00000486577.2_Silent_p.A925A|KCNT1_ENST00000371757.2_Silent_p.A966A|KCNT1_ENST00000491806.2_Silent_p.A933A			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													38	341					0	0	1	0	0	T	138675926	C	T	138675926	2	4	23	1	0	0	0	0	0	0	0	1	8135	639	23	1		1	KCNT1	9	138675926	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	2273308	138675926	2537505	69	23153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396446.1_Silent_p.S186S|KIAA1217_ENST00000376462.1_Silent_p.S388S|KIAA1217_ENST00000376452.3_Silent_p.S468S|KIAA1217_ENST00000396445.1_Silent_p.S186S|KIAA1217_ENST00000307544.6_Silent_p.S186S|KIAA1217_ENST00000458595.1_Silent_p.S468S|KIAA1217_ENST00000430453.2_Silent_p.S389S|KIAA1217_ENST00000376454.3_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													78	348					3.1711e-36	3.62411e-36	1	1	0	A	24762714	C	A	24762714	2	1	23	1	0	0	0	0	0	0	0	1	8258	581	21	2		2	KIAA1217	10	24762714	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08		24762714	110772033	70	23154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361642.5_Missense_Mutation_p.P852S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P831S|ZEB1_ENST00000542815.3_Missense_Mutation_p.P784S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Missense_Mutation_p.P851S	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													62	269					0	0	1	0	0	T	31810814	C	T	31810814	3	4	23	1	0	0	0	0	1	0	0	0	17681	623	22	2	2591	2	ZEB1	10	31810814	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	7048100	31810814	103723933	71	23155											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	339					0	0	1	0	0	A	75399731	G	A	75399731	2	1	23	1	0	0	0	0	0	0	0	1	10143	1335	47	2		2	MYOZ1	10	75399731	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08	43588917	75399731	60135016	72	23156											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	266					0	0	1	0	0	G	7949776	A	G	7949776	3	3	23	1	0	0	0	0	1	0	0	0	10942	101	4	3	513	3	OR10A6	11	7949776	Missense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08		7949776	127056740	73	23157											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	303					0	0	1	0	0	C	56468064	T	C	56468064	2	2	23	1	0	0	0	0	0	0	0	1	11297	1780	62	3		3	OR9G1	11	56468064	Silent	SNP	T	TCGA-IB-7652-01A-11D-2154-08	48518288	56468064	78538452	74	23158											
OR5A1	219982	broad.mit.edu	37	chr11	59210950	59210951	+	Frame_Shift_Ins	INS	-	-	T													ttgtgggctgtgctgctcagINSttttttttctttgtcggcat							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:59210950_59210951insT	ENST00000302030.2	+	1	334_335	c.309_310insT	c.(307-312)cattttfs	p.HF103fs		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	103					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						GTGCTGCTCAGTTTTTTTTCTT	0.51													7	1039	---	---	---	---						T	59210951	-	T	59210950	7	5	23	1	0	1	1	0	0	0	0	0	11186	1020	36	0	311	0	OR5A1	11	59210950	Frame_Shift_Ins	INS	-	TCGA-IB-7652-01A-11D-2154-08	2742886	59210950	75795566	75	23159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377585.3_Missense_Mutation_p.L252Q|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_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													11	660					0	0	1	0	0	A	64329841	T	A	64329841	3	1	23	1	0	0	0	0	1	0	0	0	14497	1580	55	5	769	5	SLC22A11	11	64329841	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	5118891	64329841	70676675	76	23160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	269					0	0	1	0	0	T	66638642	C	T	66638642	3	4	23	1	0	0	0	0	1	0	0	0	11544	710	25	2	3090	2	PC	11	66638642	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	2308801	66638642	68367874	77	23161											
KDM2A	22992	broad.mit.edu	37	chr11	67018079	67018081	+	In_Frame_Del	DEL	GAG	GAG	-													tggggggagaggaggaggaaGaggaggaggaggaggaggaa							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:67018079_67018081delGAG	ENST00000529006.2	+	17	3024_3026	c.2578_2580delGAG	c.(2578-2580)del	p.E866del	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del|KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000398645.2_Intron	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	866					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						ggaggaggaagaggaggaggagg	0.655													8	195	---	---	---	---						-	67018081	GAG	-	67018079	7	5	23	1	0	1	0	1	0	0	0	0	8168	943	33	0	2640	0	KDM2A	11	67018079	In_Frame_Del	DEL	GAG	TCGA-IB-7652-01A-11D-2154-08	379437	67018079	67988437	78	23162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354755.1_Nonsense_Mutation_p.Q506*|CCDC81_ENST00000528728.1_Nonsense_Mutation_p.Q331*|CCDC81_ENST00000445632.2_Nonsense_Mutation_p.Q596*			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													63	271					0	0	1	0	0	T	86131064	C	T	86131064	4	4	23	1	0	0	0	0	0	1	0	0	2875	711	25	2	1840	2	CCDC81	11	86131064	Nonsense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	19112985	86131064	48875452	79	23163											
FOLH1B	219595	broad.mit.edu	37	chr11	89403730	89403731	+	RNA	INS	-	-	AAAC													tgggagtgcaaagtgaatcaINSaaacaaacaaacaaacaaac							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:89403730_89403731insAAAC	ENST00000532352.1	+	0	994							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						aaagtgaaTCAaaacaaacaaa	0.347													18	75	---	---	---	---						AAAC	89403731	-	AAAC	89403730	6	5	23	0	1	1	1	0	0	0	0	0	6013	145	5	0		0	FOLH1B	11	89403730	RNA	INS	-	TCGA-IB-7652-01A-11D-2154-08	3272666	89403730	45602786	80	23164											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	135					4.62619e-21	5.19797e-21	1	1	0	A	94134167	C	A	94134167	3	1	23	1	0	0	0	0	1	0	0	0	6753	478	17	2	1040	2	GPR83	11	94134167	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	4730437	94134167	40872349	81	23165											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	1394					0	0	1	0	0	T	108032080	C	T	108032080	3	4	23	1	0	0	0	0	1	0	0	0	10613	922	32	2	558	2	NPAT	11	108032080	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	13897913	108032080	26974436	82	23166											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260257.4_Silent_p.F63F|FDXACB1_ENST00000542429.1_Intron			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)	3	73					0	0	1	0	0	A	111749420	G	A	111749420	2	1	23	1	0	0	0	0	0	0	0	1	520	1049	37	1		1	ALG9	11	111749420	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08	3717340	111749420	23257096	83	23167											
ETS1	2113	broad.mit.edu	37	chr11	128354796	128354799	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													aaagtagtcattctgcaaggTgtctgtctggagagggtctc							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:128354796_128354799delTGTC	ENST00000392668.3	-	7	849_852	c.781_784delGACA	c.(781-786)ccfs	p.DT261fs	ETS1_ENST00000531611.1_Frame_Shift_Del_p.DT217fs|ETS1_ENST00000526145.1_Frame_Shift_Del_p.DT217fs|ETS1_ENST00000319397.5_Frame_Shift_Del_p.DT217fs|ETS1_ENST00000345075.4_Frame_Shift_Del_p.DT217fs|ETS1_ENST00000535549.1_Intron	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	217					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)		TTCTGCAAGGTGTCTGTCTGGAGA	0.505													37	511	---	---	---	---						-	128354799	TGTC	-	128354796	7	5	23	1	0	1	0	1	0	0	0	0	5303	1696	59	0	689	0	ETS1	11	128354796	Frame_Shift_Del	DEL	TGTC	TCGA-IB-7652-01A-11D-2154-08	16605376	128354796	6651720	84	23168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	250					0	0	1	0	0	A	5603961	G	A	5603961	3	1	23	1	0	0	0	0	1	0	0	0	10744	1058	37	1	626	1	NTF3	12	5603961	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08		5603961	128247934	85	23169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	383					0	0	1	0	0	A	11338898	G	A	11338898	3	1	23	1	0	0	0	0	1	0	0	0	15637	971	34	2	302	2	TAS2R42	12	11338898	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	5734937	11338898	122512997	86	23170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)			8	85					0	0	1	0	0	G	25398285	C	G	25398285	3	3	23	1	0	0	0	0	1	0	0	0	8481	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	14059387	25398285	108453610	87	23171											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	55					0	0	1	0	0	C	56142711	G	C	56142711	3	2	23	1	0	0	0	0	1	0	0	0	6354	1290	45	5	793	5	GDF11	12	56142711	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	30744426	56142711	77709184	88	23172											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	185					0	0	1	0	0	T	33253063	A	T	33253063	3	4	23	1	0	0	0	0	1	0	0	0	11739	43	2	5	1088	5	PDS5B	13	33253063	Missense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08		33253063	81916815	89	23173											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													122	573					0	0	1	0	0	G	33332728	A	G	33332728	2	3	23	1	0	0	0	0	0	0	0	1	11739	204	8	3		3	PDS5B	13	33332728	Silent	SNP	A	TCGA-IB-7652-01A-11D-2154-08	79665	33332728	81837150	90	23174											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	43					0	0	1	0	0	T	53110325	A	T	53110325	4	4	23	1	0	0	0	0	0	1	0	0	5267	372	13	5	40	5	ERO1L	14	53110325	Nonsense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08		53110325	54239215	91	23175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360909.3_Missense_Mutation_p.I161S|DAAM1_ENST00000351081.1_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													99	503					0	0	1	0	0	G	59789651	T	G	59789651	3	3	23	1	0	0	0	0	1	0	0	0	4239	1435	50	3	500	3	DAAM1	14	59789651	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	6679326	59789651	47559889	92	23176											
PCNX	22990	broad.mit.edu	37	chr14	71444749	71444749	+	Frame_Shift_Del	DEL	A	A	-													tcaggcaggagacgcacaggAaaaaaacgggctagcagttt							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:71444749delA	ENST00000304743.2	+	6	2141	c.1695delA	c.(1693-1695)ggfs	p.G565fs	PCNX_ENST00000238570.5_Frame_Shift_Del_p.G565fs|PCNX_ENST00000439984.3_Frame_Shift_Del_p.G565fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	565						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)		GACGCACAGGAAAAAAACGGG	0.473													7	797	---	---	---	---						-	71444749	A	-	71444749	7	5	23	1	0	1	0	1	0	0	0	0	11638	233	9	0	1717	0	PCNX	14	71444749	Frame_Shift_Del	DEL	A	TCGA-IB-7652-01A-11D-2154-08	11655098	71444749	35904791	93	23177											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													78	485					0	0	1	0	0	G	96864443	T	G	96864443	3	3	23	1	0	0	0	0	1	0	0	0	441	1609	56	3	143	3	AK7	14	96864443	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	25419694	96864443	10485097	94	23178											
SPINT1	6692	broad.mit.edu	37	chr15	41149075	41149077	+	In_Frame_Del	DEL	CAC	CAC	-													agagaaaggacttccacggaCaccaccaccacccaccaccc							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:41149075_41149077delCAC	ENST00000344051.4	+	11	1726_1728	c.1492_1494delCAC	c.(1492-1494)del	p.H501del	SPINT1_ENST00000431806.1_In_Frame_Del_p.H485del|SPINT1_ENST00000562057.1_In_Frame_Del_p.H485del			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	501						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)		CTTCCACGGACACCACCACCACC	0.586													7	1313	---	---	---	---						-	41149077	CAC	-	41149075	7	5	23	1	0	1	0	1	0	0	0	0	15124	478	17	0	1530	0	SPINT1	15	41149075	In_Frame_Del	DEL	CAC	TCGA-IB-7652-01A-11D-2154-08		41149075	61382317	95	23179											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													134	713					3.45176e-74	4.0609e-74	1	1	0	A	83527855	C	A	83527855	3	1	23	1	0	0	0	0	1	0	0	0	7320	680	24	2	631	2	HOMER2	15	83527855	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	42378780	83527855	19003537	96	23180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	284					0	0	1	0	0	C	86838550	T	C	86838550	3	2	23	1	0	0	0	0	1	0	0	0	372	1551	54	3	2205	3	AGBL1	15	86838550	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	3310695	86838550	15692842	97	23181											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													98	554					0	0	1	0	0	A	101529485	G	A	101529485	3	1	23	1	0	0	0	0	1	0	0	0	9077	1116	39	1	662	1	LRRK1	15	101529485	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	14690935	101529485	1001907	98	23182											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)agg>ag	p.RPFACAQ461del	E4F1_ENST00000564139.1_In_Frame_Del_p.RPFACAQ461del|E4F1_ENST00000565090.1_Intron	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	461	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													16	119	---	---	---	---						-	2284196	GCCGTTCGCCTGCGCGCA	-	2284179	7	5	23	1	0	1	0	1	0	0	0	0	4900	1194	42	0	1421	0	E4F1	16	2284179	In_Frame_Del	DEL	GCCGTTCGCCTGCGCGCA	TCGA-IB-7652-01A-11D-2154-08		2284179	88070574	99	23183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	609					0	0	1	0	0	A	24372859	G	A	24372859	3	1	23	1	0	0	0	0	1	0	0	0	2576	1058	37	1	637	1	CACNG3	16	24372859	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	22088680	24372859	65981894	100	23184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|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)			51	162					0	0	1	0	0	T	7578406	C	T	7578406	3	4	23	1	0	0	0	0	1	0	0	0	16442	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08		7578406	73616804	101	23185											
TRIM16	10626	broad.mit.edu	37	chr17	15532400	15532400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtgcaggaacctgctgggGaggtccgggtagggatgctc	18	9	0	0	rs148258149	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:15532400G>A	ENST00000579219.1	-	3	560	c.314C>T	c.(313-315)tCc>tTc	p.S105F	TRIM16_ENST00000577886.1_Silent_p.L192L|RP11-385D13.1_ENST00000455584.2_Silent_p.L408L|TRIM16_ENST00000336708.7_Silent_p.L408L|TRIM16_ENST00000416464.2_Silent_p.L278L|TRIM16_ENST00000578237.1_Silent_p.L408L					tripartite motif containing 16											breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		ACCTGCTGGGGAGGTCCGGGT	0.602													5	151					0	0	1	0	0	A	15532400	G	A	15532400	3	1	23	1	0	0	0	0	1	0	0	0	16552	1161	41	2	474	2	TRIM16	17	15532400	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	7953994	15532400	65662810	102	23186											
RAI1	10743	broad.mit.edu	37	chr17	17699993	17699995	+	In_Frame_Del	DEL	GCA	GCA	-													gaacctggtcttgcggagccGcagcagcagcagcagcaacg							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:17699993_17699995delGCA	ENST00000353383.1	+	3	4200_4202	c.3731_3733delGCA	c.(3730-3735)cgc>c	p.RS1244del	RAI1_ENST00000261641.6_In_Frame_Del_p.RS1244del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1244	Poly-Ser.					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)		TTGCGGAGCCGCAGCAGCAGCAG	0.626													8	258	---	---	---	---						-	17699995	GCA	-	17699993	7	5	23	1	0	1	0	1	0	0	0	0	13059	1087	38	0	3733	0	RAI1	17	17699993	In_Frame_Del	DEL	GCA	TCGA-IB-7652-01A-11D-2154-08	2167593	17699993	63495217	103	23187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	133					0	0	1	0	0	G	76459132	A	G	76459132	3	3	23	1	0	0	0	0	1	0	0	0	4629	72	3	3	4520	3	DNAH17	17	76459132	Missense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08	58759139	76459132	4736078	104	23188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	137					0	0	1	0	0	A	76571032	G	A	76571032	2	1	23	1	0	0	0	0	0	0	0	1	4629	1136	40	1		1	DNAH17	17	76571032	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08	111900	76571032	4624178	105	23189											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000584787.1_Missense_Mutation_p.E544K|ZNF521_ENST00000538137.2_Missense_Mutation_p.E764K	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								28	260					0	0	1	0	0	T	22805592	C	T	22805592	3	4	23	1	0	0	0	0	1	0	0	0	18022	893	31	1	1665	1	ZNF521	18	22805592	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08		22805592	55271656	106	23190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	210					0	0	1	0	0	T	74962928	C	T	74962928	3	4	23	1	0	0	0	0	1	0	0	0	6267	768	27	1	426	1	GALR1	18	74962928	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	52157336	74962928	3114320	107	23191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	177					0	0	1	0	0	A	4555520	G	A	4555520	2	1	23	1	0	0	0	0	0	0	0	1	14094	1140	40	1		1	SEMA6B	19	4555520	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08		4555520	54573463	108	23192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	26					0	0	1	0	0	T	10081324	C	T	10081324	3	4	23	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	109	23193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	47					4.36969e-10	4.77562e-10	1	1	0	A	13409765	C	A	13409765	3	1	23	1	0	0	0	0	1	0	0	0	2556	680	24	2	5056	2	CACNA1A	19	13409765	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	3328441	13409765	45719218	110	23194											
CAPN12	147968	broad.mit.edu	37	chr19	39221822	39221822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacggctatcccggtagcGgctggtgagggtctgggtca	17	10	2	2	rs143345899	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:39221822G>A	ENST00000328867.4	-	19	2307	c.1999C>T	c.(1999-2001)Cgc>Tgc	p.R667C	CAPN12_ENST00000601953.1_Missense_Mutation_p.R518C|ACTN4_ENST00000252699.2_3'UTR	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	667	Domain IV.				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)			TCCCGGTAGCGGCTGGTGAGG	0.627													4	162					0	0	1	0	0	A	39221822	G	A	39221822	3	1	23	1	0	0	0	0	1	0	0	0	2643	1116	39	1	172	1	CAPN12	19	39221822	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	25812057	39221822	19907161	111	23195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000607714.1_Missense_Mutation_p.R349H|TIMM50_ENST00000599794.1_Missense_Mutation_p.R153H|TIMM50_ENST00000544017.1_Missense_Mutation_p.R236H	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													3	43					0	0	1	0	0	A	39980444	G	A	39980444	3	1	23	1	0	0	0	0	1	0	0	0	15973	1087	38	1	1397	1	TIMM50	19	39980444	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	758622	39980444	19148539	112	23196											
TMEM145	284339	broad.mit.edu	37	chr19	42818632	42818632	+	Frame_Shift_Del	DEL	T	T	-													tgtcagaacatcctcctctaTtttgatgacccatcccagtg							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:42818632delT	ENST00000598766.1	+	3	255	c.255delT	c.(253-255)tafs	p.Y85fs	TMEM145_ENST00000601020.1_3'UTR|TMEM145_ENST00000301204.3_Frame_Shift_Del_p.Y75fs			Q8NBT3	TM145_HUMAN	transmembrane protein 145	75						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)				TCCTCCTCTATTTTGATGACC	0.602													7	1155	---	---	---	---						-	42818632	T	-	42818632	7	5	23	1	0	1	0	1	0	0	0	0	16119	1500	52	0	235	0	TMEM145	19	42818632	Frame_Shift_Del	DEL	T	TCGA-IB-7652-01A-11D-2154-08	2838188	42818632	16310351	113	23197											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)ttfs	p.SVFTPAY181fs	RASSF2_ENST00000379376.2_Frame_Shift_Del_p.SVFTPAY181fs|RASSF2_ENST00000478553.1_5'UTR	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													17	240	---	---	---	---						-	4770339	TAGGCTGGTGTGAACACGG	-	4770321	7	5	23	1	0	1	0	1	0	0	0	0	13138	1406	49	0	440	0	RASSF2	20	4770321	Frame_Shift_Del	DEL	TAGGCTGGTGTGAACACGG	TCGA-IB-7652-01A-11D-2154-08		4770321	58255199	114	23198											
ZNF337	26152	broad.mit.edu	37	chr20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-													cacacataggacttctctccTgtgtgtgtgttctggtgcaa							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)afs	p.T231fs	RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs					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						ACTTCTCTCCTGTGTGTGTGTT	0.51													9	535	---	---	---	---						-	25657232	TG	-	25657231	7	5	23	1	0	1	0	1	0	0	0	0	17910	1567	55	0	1566	0	ZNF337	20	25657231	Frame_Shift_Del	DEL	TG	TCGA-IB-7652-01A-11D-2154-08	20886910	25657231	37368289	115	23199											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518730.1_Silent_p.R113R|HCK_ENST00000538448.1_Silent_p.R114R|HCK_ENST00000520553.1_Silent_p.R114R|HCK_ENST00000375862.2_Silent_p.R134R|HCK_ENST00000375852.2_Silent_p.R135R	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													98	487					0	0	1	0	0	T	30662501	C	T	30662501	2	4	23	1	0	0	0	0	0	0	0	1	7035	755	27	1		1	HCK	20	30662501	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	5005270	30662501	32363019	116	23200											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	160					0	0	1	0	0	T	17073061	A	T	17073061	3	4	23	1	0	0	0	0	1	0	0	0	2983	188	7	5	1297	5	CCT8L2	22	17073061	Missense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08		17073061	34231505	117	23201											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400585.2_Intron|CECR2_ENST00000400573.4_Intron|CECR2_ENST00000342247.5_Missense_Mutation_p.R317H	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													6	42					0	0	1	0	0	A	18003349	G	A	18003349	3	1	23	1	0	0	0	0	1	0	0	0	3228	1145	40	1	1066	1	CECR2	22	18003349	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	930288	18003349	33301217	118	23202											
NF2	4771	broad.mit.edu	37	chr22	30050682	30050682	+	Frame_Shift_Del	DEL	T	T	-													ccagtgttcacaagcggggaTttttggcccaagaggaattg							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:30050682delT	ENST00000338641.4	+	5	925	c.484delT	c.(484-486)ttfs	p.F162fs	NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000347330.5_Intron|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000413209.2_Intron	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	162	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CAAGCGGGGATTTTTGGCCCA	0.423			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2				8	976	---	---	---	---						-	30050682	T	-	30050682	7	5	23	1	0	1	0	1	0	0	0	0	10404	1493	52	0	502	0	NF2	22	30050682	Frame_Shift_Del	DEL	T	TCGA-IB-7652-01A-11D-2154-08	12047333	30050682	21253884	119	23203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	290					0	0	1	0	0	A	36124922	G	A	36124922	3	1	23	1	0	0	0	0	1	0	0	0	806	1203	42	2	1293	2	APOL5	22	36124922	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	6074240	36124922	15179644	120	23204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.S233N|ASB9_ENST00000380488.4_Missense_Mutation_p.S243N|ASB9_ENST00000380485.3_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													77	421					0	0	1	0	0	T	15266898	C	T	15266898	3	4	23	1	0	0	0	0	1	0	0	0	1029	797	28	2	193	2	ASB9	23	15266898	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08		15266898	140003662	121	23205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.R224C|ASB9_ENST00000380488.4_Missense_Mutation_p.R234C|ASB9_ENST00000380485.3_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													75	394					0	0	1	0	0	A	15266926	G	A	15266926	3	1	23	1	0	0	0	0	1	0	0	0	1029	1145	40	1	221	1	ASB9	23	15266926	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	28	15266926	140003634	122	23206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000349874.5_Silent_p.S525S|PPEF1_ENST00000544635.1_Silent_p.S522S|PPEF1_ENST00000359763.6_Silent_p.S534S|PPEF1_ENST00000543630.1_3'UTR	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													108	439					0	0	1	0	0	T	18845404	C	T	18845404	2	4	23	1	0	0	0	0	0	0	0	1	12352	639	23	1		1	PPEF1	23	18845404	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	3578478	18845404	136425156	123	23207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													155	713					1.56038e-73	1.825e-73	1	1	0	T	30578132	G	T	30578132	3	4	23	1	0	0	0	0	1	0	0	0	4124	1348	47	2	568	2	CXorf21	23	30578132	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	11732728	30578132	124692428	124	23208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343523.2_Missense_Mutation_p.Y894F|DMD_ENST00000378702.4_Missense_Mutation_p.Y286F|DMD_ENST00000378707.3_Missense_Mutation_p.Y894F|DMD_ENST00000378723.3_Missense_Mutation_p.Y286F|DMD_ENST00000378680.2_Missense_Mutation_p.Y286F|DMD_ENST00000541735.1_Missense_Mutation_p.Y894F|DMD_ENST00000359836.1_Missense_Mutation_p.Y894F|DMD_ENST00000474231.1_Missense_Mutation_p.Y894F|DMD_ENST00000361471.4_Missense_Mutation_p.Y286F|DMD_ENST00000378677.2_Missense_Mutation_p.Y3350F	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	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													16	409					0	0	1	0	0	A	31198512	T	A	31198512	3	1	23	1	0	0	0	0	1	0	0	0	4608	1406	49	5	1130	5	DMD	23	31198512	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	620380	31198512	124072048	125	23209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													70	331					0	0	1	0	0	A	35989882	G	A	35989882	3	1	23	1	0	0	0	0	1	0	0	0	4125	942	33	2	2196	2	CXorf22	23	35989882	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	4791370	35989882	119280678	126	23210											
RBM10	8241	broad.mit.edu	37	chrX	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-													gactatcggaccgagcaaggGgaggaggaggaggaggagga							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggg>gg	p.GE112del	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_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	112					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						CCGAGCAAGGggaggaggaggag	0.66													9	135	---	---	---	---						-	47030563	GGA	-	47030561	7	5	23	1	0	1	0	1	0	0	0	0	13163	1219	43	0	346	0	RBM10	23	47030561	In_Frame_Del	DEL	GGA	TCGA-IB-7652-01A-11D-2154-08	11040679	47030561	108239999	127	23211											
GAGE10	643832	broad.mit.edu	37	chrX	49173752	49173752	+	Frame_Shift_Del	DEL	A	A	-													tgccaaatccagaggaggtgAaaaggcctgaagaaggtagg							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:49173752delA	ENST00000407599.3	+	4	406	c.313delA	c.(313-315)aafs	p.K105fs		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	105										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					AGAGGAGGTGAAAAGGCCTGA	0.468													7	1395	---	---	---	---						-	49173752	A	-	49173752	7	5	23	1	0	1	0	1	0	0	0	0	6222	247	9	0	323	0	GAGE10	23	49173752	Frame_Shift_Del	DEL	A	TCGA-IB-7652-01A-11D-2154-08	2143191	49173752	106096808	128	23212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000419594.1_Silent_p.H321H|HEPH_ENST00000336279.5_Silent_p.H51H|HEPH_ENST00000441993.2_Silent_p.H321H|HEPH_ENST00000343002.2_Silent_p.H318H			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													45	189					0	0	1	0	0	T	65409671	C	T	65409671	2	4	23	1	0	0	0	0	0	0	0	1	7095	506	18	2		2	HEPH	23	65409671	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	16235919	65409671	89860889	129	23213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395337.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A162V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000373097.1_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													67	422					0	0	1	0	0	T	91090988	C	T	91090988	3	4	23	1	0	0	0	0	1	0	0	0	11555	768	27	1	487	1	PCDH11X	23	91090988	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	25681317	91090988	64179572	130	23214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													143	707					0	0	1	0	0	A	102529240	T	A	102529240	2	1	23	1	0	0	0	0	0	0	0	1	15734	1683	59	5		5	TCEAL5	23	102529240	Silent	SNP	T	TCGA-IB-7652-01A-11D-2154-08	11438252	102529240	52741320	131	23215											
COL4A6	1288	broad.mit.edu	37	chrX	107430450	107430450	+	Frame_Shift_Del	DEL	T	T	-													ccaggtggaccaggatggccTttttcaccaggaagtccagg							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:107430450delT	ENST00000334504.7	-	23	2060	c.1827delA	c.(1825-1827)aafs	p.K609fs	COL4A6_ENST00000372216.4_Frame_Shift_Del_p.K610fs|COL4A6_ENST00000394872.2_Frame_Shift_Del_p.K610fs|COL4A6_ENST00000545689.1_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000538570.1_Frame_Shift_Del_p.K609fs	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	610	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						CAGGATGGCCTTTTTCACCAG	0.512									Alport syndrome with Diffuse Leiomyomatosis				8	1176	---	---	---	---						-	107430450	T	-	107430450	7	5	23	1	0	1	0	1	0	0	0	0	3718	1606	56	0	3337	0	COL4A6	23	107430450	Frame_Shift_Del	DEL	T	TCGA-IB-7652-01A-11D-2154-08	4901210	107430450	47840110	132	23216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)tatcfs	p.YLRSF911fs	DOCK11_ENST00000276202.7_Frame_Shift_Del_p.YLRSF911fs			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	911					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													82	665	---	---	---	---						-	117742096	TCTAAGATCAT	-	117742086	7	5	23	1	0	1	0	1	0	0	0	0	4713	1442	50	0	2831	0	DOCK11	23	117742086	Frame_Shift_Del	DEL	TCTAAGATCAT	TCGA-IB-7652-01A-11D-2154-08	10311636	117742086	37528474	133	23217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370910.1_Missense_Mutation_p.Q1063E|IGSF1_ENST00000361420.3_Missense_Mutation_p.Q1072E			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													162	945					0	0	1	0	0	C	130409231	G	C	130409231	3	2	23	1	0	0	0	0	1	0	0	0	7640	1357	47	5	812	5	IGSF1	23	130409231	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	12667145	130409231	24861329	134	23218											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370443.4_Silent_p.T214T|IDS_ENST00000541269.1_Silent_p.T3T|IDS_ENST00000490775.1_5'UTR|AF011889.5_ENST00000422081.1_RNA	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													23	647					4.16121e-05	4.4034e-05	1	1	0	A	148579704	C	A	148579704	2	1	23	1	0	0	0	0	0	0	0	1	7547	523	19	4		4	IDS	23	148579704	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	18170473	148579704	6690856	135	23219											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Silent_p.A304A|MTM1_ENST00000542741.1_Silent_p.A324A	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													50	270					0	0	1	0	0	C	149826497	A	C	149826497	2	2	23	1	0	0	0	0	0	0	0	1	9985	204	8	3		3	MTM1	23	149826497	Silent	SNP	A	TCGA-IB-7652-01A-11D-2154-08	1246793	149826497	5444063	136	23220											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000369850.3_Missense_Mutation_p.R2643H|FLNA_ENST00000360319.4_Missense_Mutation_p.R2635H|FLNA_ENST00000369856.3_Missense_Mutation_p.R776H|FLNA_ENST00000344736.4_Missense_Mutation_p.R2603H	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													12	384					0	0	1	0	0	T	153577233	C	T	153577233	3	4	23	1	0	0	0	0	1	0	0	0	5966	768	27	1	19	1	FLNA	23	153577233	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	3750736	153577233	1693327	137	23221											
RERE	473	broad.mit.edu	37	chr1	8716322	8716327	+	In_Frame_Del	DEL	TCTTTG	TCTTTG	-													ggtctcggtcccggtccttcTctttgtctttgtctttgtct					rs3831914		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:8716322_8716327delTCTTTG	ENST00000337907.3	-	3	664_669	c.30_35delCAAAGA	c.(28-36)gag>ga	p.DKE10del	RERE_ENST00000400907.2_In_Frame_Del_p.DKE10del|RERE_ENST00000400908.2_In_Frame_Del_p.DKE10del	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	10					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)		ccggtccttctctttgtctttgtctt	0.539													12	1413	---	---	---	---						-	8716327	TCTTTG	-	8716322	7	5	24	1	0	1	0	1	0	0	0	0	13283	1551	54	0	4753	0	RERE	1	8716322	In_Frame_Del	DEL	TCTTTG	TCGA-IB-7885-01A-11D-2154-08		8716322	240534299	1	23222											
MUTYH	4595	broad.mit.edu	37	chr1	45795066	45795066	+	Frame_Shift_Del	DEL	T	T	-													cttgctggcccatgcggggcTttttccgactgcacggagag					rs34961970		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:45795066delT	ENST00000450313.1	-	16	1777	c.1562delA	c.(1561-1563)agfs	p.K521fs	MUTYH_ENST00000355498.2_Frame_Shift_Del_p.K493fs|MUTYH_ENST00000456914.2_Frame_Shift_Del_p.K493fs|MUTYH_ENST00000488731.2_Frame_Shift_Del_p.K188fs|MUTYH_ENST00000372098.3_Frame_Shift_Del_p.K518fs|MUTYH_ENST00000529984.1_Frame_Shift_Del_p.K188fs|MUTYH_ENST00000372104.1_Frame_Shift_Del_p.K493fs|MUTYH_ENST00000372100.5_Frame_Shift_Del_p.K504fs|MUTYH_ENST00000372110.3_Frame_Shift_Del_p.K508fs|MUTYH_ENST00000372115.3_Frame_Shift_Del_p.K507fs|MUTYH_ENST00000354383.6_Frame_Shift_Del_p.K494fs|MUTYH_ENST00000531105.1_Frame_Shift_Del_p.K53fs|MUTYH_ENST00000528332.2_Frame_Shift_Del_p.K202fs|MUTYH_ENST00000448481.1_Frame_Shift_Del_p.K504fs	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	518					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CATGCGGGGCTTTTTCCGACT	0.547			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				7	1140	---	---	---	---						-	45795066	T	-	45795066	7	5	24	1	0	1	0	1	0	0	0	0	10041	1609	56	0	91	0	MUTYH	1	45795066	Frame_Shift_Del	DEL	T	TCGA-IB-7885-01A-11D-2154-08	37078744	45795066	203455555	2	23223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453295.1_Missense_Mutation_p.I506M|OSBPL9_ENST00000447887.1_Missense_Mutation_p.I533M|OSBPL9_ENST00000435686.2_Missense_Mutation_p.I358M|OSBPL9_ENST00000428468.1_Missense_Mutation_p.I523M|OSBPL9_ENST00000462759.1_Missense_Mutation_p.I345M|OSBPL9_ENST00000486942.1_Missense_Mutation_p.I345M|OSBPL9_ENST00000371714.1_Missense_Mutation_p.I510M|OSBPL9_ENST00000337809.4_Missense_Mutation_p.I528M|OSBPL9_ENST00000361556.5_Missense_Mutation_p.I413M|OSBPL9_ENST00000530544.1_Missense_Mutation_p.I442M|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													19	334					0	0	1	0	0	G	52249642	C	G	52249642	3	3	24	1	0	0	0	0	1	0	0	0	11331	903	32	5	1743	5	OSBPL9	1	52249642	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	6454576	52249642	197000979	3	23224			1	4		3	3	329	C		7.014146e-07
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453295.1_Missense_Mutation_p.S510L|OSBPL9_ENST00000447887.1_Missense_Mutation_p.S537L|OSBPL9_ENST00000435686.2_Missense_Mutation_p.S362L|OSBPL9_ENST00000428468.1_Missense_Mutation_p.S527L|OSBPL9_ENST00000462759.1_Missense_Mutation_p.S349L|OSBPL9_ENST00000486942.1_Missense_Mutation_p.S349L|OSBPL9_ENST00000371714.1_Missense_Mutation_p.S514L|OSBPL9_ENST00000337809.4_Missense_Mutation_p.S532L|OSBPL9_ENST00000361556.5_Missense_Mutation_p.S417L|OSBPL9_ENST00000530544.1_Missense_Mutation_p.S446L|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													16	343					0	0	1	0	0	T	52249653	C	T	52249653	3	4	24	1	0	0	0	0	1	0	0	0	11331	838	29	2	1754	2	OSBPL9	1	52249653	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	11	52249653	197000968	4	23225			1	4		3	3	329	C		7.014146e-07
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453295.1_Silent_p.Y536Y|OSBPL9_ENST00000447887.1_Silent_p.Y563Y|OSBPL9_ENST00000435686.2_Silent_p.Y388Y|OSBPL9_ENST00000428468.1_Silent_p.Y553Y|OSBPL9_ENST00000462759.1_Silent_p.Y375Y|OSBPL9_ENST00000486942.1_Silent_p.Y375Y|OSBPL9_ENST00000371714.1_Silent_p.Y540Y|OSBPL9_ENST00000337809.4_Silent_p.Y558Y|OSBPL9_ENST00000361556.5_Silent_p.Y443Y|OSBPL9_ENST00000530544.1_Silent_p.Y472Y|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													47	464					0	0	1	0	0	T	52249970	C	T	52249970	2	4	24	1	0	0	0	0	0	0	0	1	11331	489	17	2		2	OSBPL9	1	52249970	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	317	52249970	197000651	5	23226			1	4		3	3	329	C		7.014146e-07
GBP2	2634	broad.mit.edu	37	chr1	89587526	89587528	+	In_Frame_Del	DEL	CCA	CCA	-													gcgatagaggcccacaatcgCcaccaccaccacaggctgcg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:89587526_89587528delCCA	ENST00000370466.3	-	2	390_392	c.122_124delTGG	c.(121-126)gcg>g	p.VA41del		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	41					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)		CCCACAATCGCCACCACCACCAC	0.527													8	572	---	---	---	---						-	89587528	CCA	-	89587526	7	5	24	1	0	1	0	1	0	0	0	0	6314	739	26	0	1691	0	GBP2	1	89587526	In_Frame_Del	DEL	CCA	TCGA-IB-7885-01A-11D-2154-08	37337556	89587526	159663095	6	23227											
CLCC1	23155	broad.mit.edu	37	chr1	109477407	109477407	+	Frame_Shift_Del	DEL	T	T	-													cttcagacttgagctgggccTtttccgctgcgggtgaacct					rs150759040	by1000genomes	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:109477407delT	ENST00000369971.2	-	11	1670	c.1541delA	c.(1540-1542)agfs	p.K514fs	CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	514						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)		GAGCTGGGCCTTTTCCGCTGC	0.597													7	749	---	---	---	---						-	109477407	T	-	109477407	7	5	24	1	0	1	0	1	0	0	0	0	3483	1609	56	0	118	0	CLCC1	1	109477407	Frame_Shift_Del	DEL	T	TCGA-IB-7885-01A-11D-2154-08	19889881	109477407	139773214	7	23228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	248					0	0	1	0	0	A	115829233	G	A	115829233	3	1	24	1	0	0	0	0	1	0	0	0	10442	1145	40	1	545	1	NGF	1	115829233	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	6351826	115829233	133421388	8	23229											
TDRD10	126668	broad.mit.edu	37	chr1	154493902	154493902	+	Frame_Shift_Del	DEL	A	A	-													aactgttcgtgaatacaagcAaaaggccccccaagaggacc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:154493902delA	ENST00000368482.4	+	6	1154	c.316delA	c.(316-318)aafs	p.K106fs	TDRD10_ENST00000368480.3_Frame_Shift_Del_p.K106fs|TDRD10_ENST00000479937.1_3'UTR	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	106	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAATACAAGCAAAAGGCCCCC	0.517													7	1208	---	---	---	---						-	154493902	A	-	154493902	7	5	24	1	0	1	0	1	0	0	0	0	15790	131	5	0	334	0	TDRD10	1	154493902	Frame_Shift_Del	DEL	A	TCGA-IB-7885-01A-11D-2154-08	38664669	154493902	94756719	9	23230											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	393					0	0	1	0	0	T	157068532	C	T	157068532	3	4	24	1	0	0	0	0	1	0	0	0	5308	652	23	1	645	1	ETV3L	1	157068532	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	2574630	157068532	92182089	10	23231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:158596687T>G	ENST00000368148.3	-	41	5955	c.5775A>C	c.(5773-5775)gaA>gaC	p.E1925D	SPTA1_ENST00000368147.3_Missense_Mutation_p.E1922D|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1925					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													47	650					0	0	1	0	0	G	158596687	T	G	158596687	3	3	24	1	0	0	0	0	1	0	0	0	15172	1606	56	3	1532	3	SPTA1	1	158596687	Missense_Mutation	SNP	T	TCGA-IB-7885-01A-11D-2154-08	1528155	158596687	90653934	11	23232											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	342					0	0	1	0	0	A	159273851	T	A	159273851	2	1	24	1	0	0	0	0	0	0	0	1	5807	1828	64	5		5	FCER1A	1	159273851	Silent	SNP	T	TCGA-IB-7885-01A-11D-2154-08	677164	159273851	89976770	12	23233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.P168A|RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.P168A	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													6	87					0	0	1	0	0	C	177934213	G	C	177934213	3	2	24	1	0	0	0	0	1	0	0	0	14041	1174	41	5	2772	5	SEC16B	1	177934213	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	18660362	177934213	71316408	13	23234											
CFH	3075	broad.mit.edu	37	chr1	196646766	196646766	+	Frame_Shift_Del	DEL	T	T	-													atgcattgttcagacgatggTttttggagtaaagagaaacc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:196646766delT	ENST00000367429.4	+	5	828	c.588delT	c.(586-588)ggfs	p.G196fs	CFH_ENST00000359637.2_Intron|CFH_ENST00000439155.2_Frame_Shift_Del_p.G196fs	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	196	Sushi 3.				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						CAGACGATGGTTTTTGGAGTA	0.343													7	719	---	---	---	---						-	196646766	T	-	196646766	7	5	24	1	0	1	0	1	0	0	0	0	3305	1712	60	0	606	0	CFH	1	196646766	Frame_Shift_Del	DEL	T	TCGA-IB-7885-01A-11D-2154-08	18712553	196646766	52603855	14	23235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382198.1_Missense_Mutation_p.R492Q|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Missense_Mutation_p.R665Q|TPO_ENST00000382201.3_Missense_Mutation_p.R608Q|TPO_ENST00000349624.3_Missense_Mutation_p.R492Q|TPO_ENST00000329066.4_Missense_Mutation_p.R665Q|TPO_ENST00000346956.3_Missense_Mutation_p.R665Q	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													24	267					0	0	1	0	0	A	1497799	G	A	1497799	3	1	24	1	0	0	0	0	1	0	0	0	16471	1116	39	1	2032	1	TPO	2	1497799	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08		1497799	241701574	15	23236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	STON1-GTF2A1L_ENST00000309827.2_Silent_p.I931I|GTF2A1L_ENST00000403751.3_Silent_p.I227I|GTF2A1L_ENST00000430487.2_Silent_p.I193I|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Silent_p.I931I|STON1-GTF2A1L_ENST00000402114.2_Silent_p.I931I|STON1-GTF2A1L_ENST00000394751.3_Silent_p.I884I	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													21	377					0	0	1	0	0	T	48873884	C	T	48873884	2	4	24	1	0	0	0	0	0	0	0	1	15373	874	31	1		1	STON1-GTF2A1L	2	48873884	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	47376085	48873884	194325489	16	23237											
CCDC88A	55704	broad.mit.edu	37	chr2	55549818	55549818	+	Frame_Shift_Del	DEL	T	T	-													tctgtttgagagcttcataaTtttttttcacctaaaatttt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:55549818delT	ENST00000436346.1	-	18	3849	c.3008delA	c.(3007-3009)atfs	p.N1003fs	CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1003					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						AGCTTCATAATTTTTTTTCAC	0.353													9	320	---	---	---	---						-	55549818	T	-	55549818	7	5	24	1	0	1	0	1	0	0	0	0	2883	1493	52	0	2667	0	CCDC88A	2	55549818	Frame_Shift_Del	DEL	T	TCGA-IB-7885-01A-11D-2154-08	6675934	55549818	187649555	17	23238											
USP34	9736	broad.mit.edu	37	chr2	61447488	61447488	+	Frame_Shift_Del	DEL	G	G	-													tgagccaaaagaaaccgctcGacccagttttccatattctg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:61447488delG	ENST00000398571.2	-	67	8080	c.8004delC	c.(8002-8004)gtfs	p.V2668fs	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2668					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)			GAAACCGCTCGACCCAGTTTT	0.378													7	1826	---	---	---	---						-	61447488	G	-	61447488	7	5	24	1	0	1	0	1	0	0	0	0	17125	1045	37	0	2692	0	USP34	2	61447488	Frame_Shift_Del	DEL	G	TCGA-IB-7885-01A-11D-2154-08	5897670	61447488	181751885	18	23239											
MOGS	7841	broad.mit.edu	37	chr2	74690035	74690035	+	Frame_Shift_Del	DEL	G	G	-													gcaagccgaggtagcgttcaGggggggcccctgggggccga							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:74690035delG	ENST00000233616.4	-	4	1043	c.881delC	c.(880-882)ctfs	p.P294fs	MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000452063.2_Frame_Shift_Del_p.P188fs|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	294					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						GTAGCGTTCAGGGGGGGCCCC	0.587													8	1137	---	---	---	---						-	74690035	G	-	74690035	7	5	24	1	0	1	0	1	0	0	0	0	9746	1000	35	0	1636	0	MOGS	2	74690035	Frame_Shift_Del	DEL	G	TCGA-IB-7885-01A-11D-2154-08	13242547	74690035	168509338	19	23240											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000351288.6_Silent_p.A326A|SMPD4_ENST00000431183.2_Silent_p.A253A|SMPD4_ENST00000453750.1_Silent_p.A104A|SMPD4_ENST00000443958.2_Silent_p.A19A|SMPD4_ENST00000339679.7_Silent_p.A213A|SMPD4_ENST00000426662.2_Missense_Mutation_p.P40R|SMPD4_ENST00000409031.1_Silent_p.A326A|SMPD4_ENST00000473720.1_5'UTR			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													7	262					0	0	1	0	0	C	130921950	G	C	130921950	3	2	24	1	0	0	0	0	1	0	0	0	14861	1335	47	5	1666	5	SMPD4	2	130921950	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	56231915	130921950	112277423	20	23241											
ALS2CR11	151254	broad.mit.edu	37	chr2	202352352	202352352	+	Frame_Shift_Del	DEL	T	T	-													ttttcaatatcctcttttaaTtttttttggccgcattttat							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:202352352delT	ENST00000439140.1	-	16	5490	c.5446delA	c.(5446-5448)ttfs	p.I1816fs	ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	619										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTCTTTTAATTTTTTTTGGC	0.323													8	509	---	---	---	---						-	202352352	T	-	202352352	7	5	24	1	0	1	0	1	0	0	0	0	548	1493	52	0	20	0	ALS2CR11	2	202352352	Frame_Shift_Del	DEL	T	TCGA-IB-7885-01A-11D-2154-08	71430402	202352352	40847021	21	23242											
CYP20A1	57404	broad.mit.edu	37	chr2	204150380	204150380	+	Frame_Shift_Del	DEL	A	A	-													aaccacctctgaagaagttcAaaaaaaattatatgaagaga							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:204150380delA	ENST00000356079.4	+	9	1019	c.896delA	c.(895-897)cafs	p.Q299fs	CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	299						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						GAAGAAGTTCAAAAAAAATTA	0.348													7	468	---	---	---	---						-	204150380	A	-	204150380	7	5	24	1	0	1	0	1	0	0	0	0	4175	130	5	0	930	0	CYP20A1	2	204150380	Frame_Shift_Del	DEL	A	TCGA-IB-7885-01A-11D-2154-08	1798028	204150380	39048993	22	23243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000462231.1_Missense_Mutation_p.A103T|PARD3B_ENST00000351153.1_Missense_Mutation_p.A103T|PARD3B_ENST00000349953.3_Missense_Mutation_p.A103T|PARD3B_ENST00000358768.2_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													14	198					0	0	1	0	0	A	205829959	G	A	205829959	3	1	24	1	0	0	0	0	1	0	0	0	11491	1319	46	2	317	2	PARD3B	2	205829959	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	1679579	205829959	37369414	23	23244											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000492059.1_Missense_Mutation_p.V140I|FBLN2_ENST00000295760.7_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													6	60					0	0	1	0	0	A	13612273	G	A	13612273	3	1	24	1	0	0	0	0	1	0	0	0	5732	1145	40	1		1	FBLN2	3	13612273	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08		13612273	184410157	24	23245											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	188					0	0	1	0	0	A	30686373	T	A	30686373	3	1	24	1	0	0	0	0	1	0	0	0	15882	1580	55	5	314	5	TGFBR2	3	30686373	Missense_Mutation	SNP	T	TCGA-IB-7885-01A-11D-2154-08	17074100	30686373	167336057	25	23246											
VEPH1	79674	broad.mit.edu	37	chr3	157081226	157081227	+	Frame_Shift_Ins	INS	-	-	T													atgctttcactttgctgaggINStttttttttaagtgcaagta							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:157081226_157081227insT	ENST00000362010.2	-	9	1968_1969	c.1661_1662insA	c.(1660-1662)actfs	p.T554fs	VEPH1_ENST00000543418.1_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000392833.2_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000392832.2_Frame_Shift_Ins_p.T554fs|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	554						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)			CTTTGCTGAGGTTTTTTTTTAA	0.396													22	970	---	---	---	---						T	157081227	-	T	157081226	7	5	24	1	0	1	1	0	0	0	0	0	17214	1252	44	0	863	0	VEPH1	3	157081226	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	126394853	157081226	40941204	26	23247											
TMEM175	84286	broad.mit.edu	37	chr4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-													ctctgggcatcttcttgttcTgtgtgtgtgtgatcgccatt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tfs	p.C144fs	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						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)			CTTCTTGTTCTGTGTGTGTGTG	0.515													9	986	---	---	---	---						-	946207	TG	-	946206	7	5	24	1	0	1	0	1	0	0	0	0	16151	1580	55	0	452	0	TMEM175	4	946206	Frame_Shift_Del	DEL	TG	TCGA-IB-7885-01A-11D-2154-08		946206	190208070	27	23248											
SEC31A	22872	broad.mit.edu	37	chr4	83745800	83745800	+	Frame_Shift_Del	DEL	T	T	-													tggaataggtttcttggtaaTtttttttgttggcaaagact							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:83745800delT	ENST00000432794.1	-	26	3521	c.3358delA	c.(3358-3360)ttfs	p.I1120fs	SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I1053fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I1138fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I1092fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000395310.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I856fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I1087fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I1107fs			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1107					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)				TTCTTGGTAATTTTTTTTGTT	0.388													8	337	---	---	---	---						-	83745800	T	-	83745800	7	5	24	1	0	1	0	1	0	0	0	0	14052	1493	52	0	355	0	SEC31A	4	83745800	Frame_Shift_Del	DEL	T	TCGA-IB-7885-01A-11D-2154-08	82799594	83745800	107408476	28	23249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	196					0	0	1	0	0	C	151168835	T	C	151168835	3	2	24	1	0	0	0	0	1	0	0	0	4315	1435	50	3	1909	3	DCLK2	4	151168835	Missense_Mutation	SNP	T	TCGA-IB-7885-01A-11D-2154-08	67423035	151168835	39985441	29	23250											
FGA	2243	broad.mit.edu	37	chr4	155505987	155505988	+	Splice_Site	INS	-	-	A													ggaggacatcatcacagtctINSaaaaaaaaaattaagctggt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:155505987_155505988insA	ENST00000302053.3	-	6	1970		c.e6-2			NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen 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			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)	CATCACAGTCTAAAAAAAAAAT	0.366													10	253	---	---	---	---						A	155505988	-	A	155505987	8	5	24	1	0	1	1	0	0	0	1	0	5863	1536	53	0	714	0	FGA	4	155505987	Splice_Site	INS	-	TCGA-IB-7885-01A-11D-2154-08	4337152	155505987	35648289	30	23251											
SORBS2	8470	broad.mit.edu	37	chr4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-													gcaggagctgatgaggtggcGgtggtggtggtggtggtgat							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:186544620_186544622delGGT	ENST00000431808.1	-	14	2512_2514	c.1949_1951delACC	c.(1948-1953)cgc>c	p.HR650del	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000437304.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	650	His-rich.					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)		ATGAggtggcggtggtggtggtg	0.522													8	390	---	---	---	---						-	186544622	GGT	-	186544620	7	5	24	1	0	1	0	1	0	0	0	0	14982	1116	39	0	1387	0	SORBS2	4	186544620	In_Frame_Del	DEL	GGT	TCGA-IB-7885-01A-11D-2154-08	31038633	186544620	4609656	31	23252											
ZFR	51663	broad.mit.edu	37	chr5	32404160	32404161	+	Frame_Shift_Ins	INS	-	-	T													gaggctttcaatgcagcttcINStttttttttatgtttctgtc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:32404160_32404161insT	ENST00000265069.8	-	7	1176_1177	c.1074_1075insA	c.(1072-1077)aaaagcfs	p.S359fs		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	359					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)		AATGCAGCTTCTTTTTTTTTAT	0.351													8	645	---	---	---	---						T	32404161	-	T	32404160	7	5	24	1	0	1	1	0	0	0	0	0	17717	922	32	0	2205	0	ZFR	5	32404160	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		32404160	148511100	32	23253											
RAD17	5884	broad.mit.edu	37	chr5	68692367	68692367	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtggtttctaataaaTaaaaaggtaaaaaaaaaaaa	5	4	2	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:68692367T>A	ENST00000509734.1	+	15	2277	c.1599T>A	c.(1597-1599)aaT>aaA	p.N533K	RAD17_ENST00000504177.1_Intron|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	533	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)		TTCTAATAAATAAAAAGGTAA	0.338								Other conserved DNA damage response genes					11	68					0	0	1	0	0	A	68692367	T	A	68692367	3	1	24	1	0	0	0	0	1	0	0	0	13031	1403	49	5	1662	5	RAD17	5	68692367	Missense_Mutation	SNP	T	TCGA-IB-7885-01A-11D-2154-08	36288207	68692367	112222893	33	23254											
THBS4	7060	broad.mit.edu	37	chr5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-													gatggaattggtgacgagtgTgatgatgatgatgacaatga							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgt>tg	p.CD663del	CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	663					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)		GTGACGAGTGTGATGATGATGAT	0.562													10	1230	---	---	---	---						-	79372776	TGA	-	79372774	7	5	24	1	0	1	0	1	0	0	0	0	15916	1702	59	0	2051	0	THBS4	5	79372774	In_Frame_Del	DEL	TGA	TCGA-IB-7885-01A-11D-2154-08	10680407	79372774	101542486	34	23255											
FNIP1	96459	broad.mit.edu	37	chr5	131007940	131007941	+	Frame_Shift_Ins	INS	-	-	T													ggcacaatcttatctggaggINSttttttttccacaaccattc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:131007940_131007941insT	ENST00000307968.7	-	13	2111_2112	c.2112_2113insA	c.(2110-2115)aactccfs	p.NS704fs	FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Frame_Shift_Ins_p.NS687fs|FNIP1_ENST00000510461.1_Frame_Shift_Ins_p.NS732fs	NM_001008738.2	NP_001008738.2			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)		TTATCTGGAGGTTTTTTTTCCA	0.441													9	925	---	---	---	---						T	131007941	-	T	131007940	7	5	24	1	0	1	1	0	0	0	0	0	6008	1261	44	0	1323	0	FNIP1	5	131007940	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	51635166	131007940	49907320	35	23256											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	546					0	0	1	0	0	A	134232006	G	A	134232006	3	1	24	1	0	0	0	0	1	0	0	0	16856	1145	40	1	792	1	TXNDC15	5	134232006	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	3224066	134232006	46683254	36	23257											
EGR1	1958	broad.mit.edu	37	chr5	137801684	137801686	+	In_Frame_Del	DEL	CAG	CAG	-													ggcggcgggggcggcagcaaCagcagcagcagcagcagcac							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:137801684_137801686delCAG	ENST00000239938.4	+	1	506_508	c.234_236delCAG	c.(232-237)aac>aa	p.NS78del		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	78	Gly/Ser-rich.				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)			gcggcagcaacagcagcagcagc	0.724													9	122	---	---	---	---						-	137801686	CAG	-	137801684	7	5	24	1	0	1	0	1	0	0	0	0	4997	477	17	0	236	0	EGR1	5	137801684	In_Frame_Del	DEL	CAG	TCGA-IB-7885-01A-11D-2154-08	3569678	137801684	43113576	37	23258											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_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													5	108					0	0	1	0	0	T	140763117	C	T	140763117	2	4	24	1	0	0	0	0	0	0	0	1	11606	755	27	1		1	PCDHGA7	5	140763117	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	2961433	140763117	40152143	38	23259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	530					0	0	1	0	0	T	176025336	C	T	176025336	2	4	24	1	0	0	0	0	0	0	0	1	6770	593	21	2		2	GPRIN1	5	176025336	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	35262219	176025336	4889924	39	23260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376841.2_Silent_p.V117V|BTNL9_ENST00000376842.3_Silent_p.V117V|BTNL9_ENST00000515271.1_Silent_p.V48V	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													13	209					0	0	1	0	0	T	180475168	C	T	180475168	2	4	24	1	0	0	0	0	0	0	0	1	1571	842	30	2		2	BTNL9	5	180475168	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	4449832	180475168	440092	40	23261											
ATXN1	6310	broad.mit.edu	37	chr6	16327900	16327901	+	In_Frame_Ins	INS	-	-	TGC													gctgctgctgctgctgctgcINStgctgctgatgctgatgctg					rs66949327		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:16327900_16327901insTGC	ENST00000244769.4	-	8	1577_1578	c.641_642insGCA	c.(640-642)cca>cGCAca	p.214_214P>RT	ATXN1_ENST00000436367.1_In_Frame_Ins_p.214_214P>RT	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	214	Poly-Gln.				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)				gctgctgctgctgctgctgatg	0.668													8	107	---	---	---	---						TGC	16327901	-	TGC	16327900	7	5	24	1	0	1	1	0	0	0	0	0	1207	796	28	0	1813	0	ATXN1	6	16327900	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		16327900	154787167	41	23262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	428					0	0	1	0	0	A	24145857	G	A	24145857	3	1	24	1	0	0	0	0	1	0	0	0	10710	1059	37	1	277	1	NRSN1	6	24145857	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	7817957	24145857	146969210	42	23263											
HIST1H2BM	8342	broad.mit.edu	37	chr6	27782855	27782855	+	Frame_Shift_Del	DEL	A	A	-													tcaaatctgctccagtccctAaaaaaggctccaagaaggcc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:27782855delA	ENST00000359465.4	+	1	34	c.34delA	c.(34-36)aafs	p.K13fs		NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	13					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						TCCAGTCCCTAAAAAAGGCTC	0.433													8	643	---	---	---	---						-	27782855	A	-	27782855	7	5	24	1	0	1	0	1	0	0	0	0	7193	363	13	0	36	0	HIST1H2BM	6	27782855	Frame_Shift_Del	DEL	A	TCGA-IB-7885-01A-11D-2154-08	3636998	27782855	143332212	43	23264											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28212908	28212908	+	Frame_Shift_Del	DEL	T	T	-													catgggtcactgtgaaagagTttttttccctacatggcttc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:28212908delT	ENST00000377294.2	-	5	1867	c.1624delA	c.(1624-1626)ctfs	p.T542fs	ZKSCAN4_ENST00000423974.2_Frame_Shift_Del_p.T387fs	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	542					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						TGTGAAAGAGTTTTTTTCCCT	0.443													8	668	---	---	---	---						-	28212908	T	-	28212908	7	5	24	1	0	1	0	1	0	0	0	0	17747	1725	60	0	17	0	ZKSCAN4	6	28212908	Frame_Shift_Del	DEL	T	TCGA-IB-7885-01A-11D-2154-08	430053	28212908	142902159	44	23265											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	210					0	0	1	0	0	A	30166741	G	A	30166741	3	1	24	1	0	0	0	0	1	0	0	0	16561	1294	45	2	1507	2	TRIM26	6	30166741	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	1953833	30166741	140948326	45	23266											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000556679.1_Missense_Mutation_p.R1144W|CFB_ENST00000477310.1_Missense_Mutation_p.R993W			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													39	337					0	0	1	0	0	T	31918989	C	T	31918989	3	4	24	1	0	0	0	0	1	0	0	0	3300	875	31	1	1982	1	CFB	6	31918989	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	1752248	31918989	139196078	46	23267											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-													atggcccaccttcctcccatCaccaccaccaccaccatcac							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)del	p.H966del	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					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						TTCCTCccatcaccaccaccacc	0.645													9	954	---	---	---	---						-	33411203	CAC	-	33411201	7	5	24	1	0	1	0	1	0	0	0	0	15504	826	29	0	2930	0	SYNGAP1	6	33411201	In_Frame_Del	DEL	CAC	TCGA-IB-7885-01A-11D-2154-08	1492212	33411201	137703866	47	23268											
PHIP	55023	broad.mit.edu	37	chr6	79655961	79655961	+	Frame_Shift_Del	DEL	T	T	-													tagctggggttttaagatccTttttttcctttcagggctgt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:79655961delT	ENST00000275034.4	-	38	4554	c.4387delA	c.(4387-4389)ggfs	p.R1463fs	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1463					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)		TTTAAGATCCTTTTTTTCCTT	0.358													10	675	---	---	---	---						-	79655961	T	-	79655961	7	5	24	1	0	1	0	1	0	0	0	0	11890	1608	56	0	1090	0	PHIP	6	79655961	Frame_Shift_Del	DEL	T	TCGA-IB-7885-01A-11D-2154-08	46244760	79655961	91459106	48	23269											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													56	736					1.13205e-32	1.19269e-32	1	1	0	A	87969936	C	A	87969936	3	1	24	1	0	0	0	0	1	0	0	0	17883	826	29	2	6619	2	ZNF292	6	87969936	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	8313975	87969936	83145131	49	23270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368248.2_Silent_p.S382S|THEMIS_ENST00000543064.1_Silent_p.S382S|THEMIS_ENST00000537166.1_Silent_p.S347S			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													38	319					0	0	1	0	0	A	128134640	G	A	128134640	2	1	24	1	0	0	0	0	0	0	0	1	15920	1103	39	1		1	THEMIS	6	128134640	Silent	SNP	G	TCGA-IB-7885-01A-11D-2154-08	40164704	128134640	42980427	50	23271											
OLIG3	167826	broad.mit.edu	37	chr6	137815210	137815212	+	In_Frame_Del	DEL	TGG	TGG	-													ccgagttgagacggctctccTggtggtggtggtggcggtgg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:137815210_137815212delTGG	ENST00000367734.2	-	1	319_321	c.96_98delCCA	c.(94-99)cag>ca	p.HQ32del		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	32	Poly-His.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Q33K(1)		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)		ACGGCTCTCCtggtggtggtggt	0.596													7	458	---	---	---	---						-	137815212	TGG	-	137815210	7	5	24	1	0	1	0	1	0	0	0	0	10910	1580	55	0	724	0	OLIG3	6	137815210	In_Frame_Del	DEL	TGG	TCGA-IB-7885-01A-11D-2154-08	9680570	137815210	33299857	51	23272											
GLCCI1	113263	broad.mit.edu	37	chr7	8126097	8126099	+	In_Frame_Del	DEL	CAG	CAG	-													cctctgtccagcagccatccCagcagcagcagctcctgcag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:8126097_8126099delCAG	ENST00000223145.5	+	8	2130_2132	c.1573_1575delCAG	c.(1573-1575)del	p.Q528del		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	528	Poly-Gln.									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)		GCAGCCATCCCAGCAGCAGCAGC	0.562													8	1470	---	---	---	---						-	8126099	CAG	-	8126097	7	5	24	1	0	1	0	1	0	0	0	0	6473	595	21	0	1603	0	GLCCI1	7	8126097	In_Frame_Del	DEL	CAG	TCGA-IB-7885-01A-11D-2154-08		8126097	151012566	52	23273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:43447240A>G	ENST00000395891.1	+	8	1316	c.711A>G	c.(709-711)aaA>aaG	p.K237K	HECW1_ENST00000453890.1_Silent_p.K237K|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	237	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													19	202					0	0	1	0	0	G	43447240	A	G	43447240	2	3	24	1	0	0	0	0	0	0	0	1	7083	40	2	3		3	HECW1	7	43447240	Silent	SNP	A	TCGA-IB-7885-01A-11D-2154-08	35321143	43447240	115691423	53	23274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:82584750T>C	ENST00000423517.2	-	5	5856	c.5519A>G	c.(5518-5520)gAa>gGa	p.E1840G	PCLO_ENST00000333891.8_Missense_Mutation_p.E1840G	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1771					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													74	768					0	0	1	0	0	C	82584750	T	C	82584750	3	2	24	1	0	0	0	0	1	0	0	0	11630	1783	62	3	10010	3	PCLO	7	82584750	Missense_Mutation	SNP	T	TCGA-IB-7885-01A-11D-2154-08	39137510	82584750	76553913	54	23275											
MEPCE	56257	broad.mit.edu	37	chr7	100028823	100028825	+	In_Frame_Del	DEL	CCA	CCA	-													cgagggagttggggaggccgCcaccaccaccaccacccact					rs71555278		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:100028823_100028825delCCA	ENST00000310512.2	+	1	1570_1572	c.1182_1184delCCA	c.(1180-1185)cgc>cg	p.RH394del	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	394							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)					GGGGAGGCCGCCACCACCACCAC	0.581													7	377	---	---	---	---						-	100028825	CCA	-	100028823	7	5	24	1	0	1	0	1	0	0	0	0	9527	726	26	0	1184	0	MEPCE	7	100028823	In_Frame_Del	DEL	CCA	TCGA-IB-7885-01A-11D-2154-08	17444073	100028823	59109840	55	23276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000292644.3_Silent_p.T70T|PSMC2_ENST00000544811.1_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													14	168					0	0	1	0	0	C	102996160	T	C	102996160	2	2	24	1	0	0	0	0	0	0	0	1	12735	1567	55	3		3	PSMC2	7	102996160	Silent	SNP	T	TCGA-IB-7885-01A-11D-2154-08	2967337	102996160	56142503	56	23277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	204					0	0	1	0	0	A	149524951	G	A	149524951	1	1	24	0	1	0	0	0	0	0	0	0	15245	933	33	2		2	SSPO	7	149524951	RNA	SNP	G	TCGA-IB-7885-01A-11D-2154-08	46528791	149524951	9613712	57	23278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	299					0	0	1	0	0	A	19250984	G	A	19250984	3	1	24	1	0	0	0	0	1	0	0	0	14289	1087	38	1	1284	1	SH2D4A	8	19250984	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08		19250984	127113038	58	23279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	538					0	0	1	0	0	T	21985133	C	T	21985133	2	4	24	1	0	0	0	0	0	0	0	1	7388	697	25	2		2	HR	8	21985133	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	2734149	21985133	124378889	59	23280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	253					0	0	1	0	0	T	35699041	C	T	35699041	2	4	24	1	0	0	0	0	0	0	0	1	16007	610	22	2		2	TLN1	9	35699041	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08		35699041	105514390	60	23281											
TMC1	117531	broad.mit.edu	37	chr9	75263574	75263574	+	Frame_Shift_Del	DEL	A	A	-													acacccccaggatgtcacccAaaaaaggtatttacaaaatc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:75263574delA	ENST00000297784.5	+	5	550	c.10delA	c.(10-12)aafs	p.K5fs	TMC1_ENST00000340019.3_Frame_Shift_Del_p.K5fs|TMC1_ENST00000396237.3_Frame_Shift_Del_p.K5fs	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	5	Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GATGTCACCCAAAAAAGGTAT	0.398													9	756	---	---	---	---						-	75263574	A	-	75263574	7	5	24	1	0	1	0	1	0	0	0	0	16044	131	5	0	12	0	TMC1	9	75263574	Frame_Shift_Del	DEL	A	TCGA-IB-7885-01A-11D-2154-08	39564533	75263574	65949857	61	23282											
PCSK5	5125	broad.mit.edu	37	chr9	78973707	78973709	+	In_Frame_Del	DEL	GAT	GAT	-													gggatcgggactatgatgagGatgatgatgatgacatcgtc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:78973707_78973709delGAT	ENST00000545128.1	+	37	5990_5992	c.5452_5454delGAT	c.(5452-5454)del	p.D1822del		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	639					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						CTATGATGAGGATGATGATGATG	0.468													7	850	---	---	---	---						-	78973709	GAT	-	78973707	7	5	24	1	0	1	0	1	0	0	0	0	11650	1189	41	0		0	PCSK5	9	78973707	In_Frame_Del	DEL	GAT	TCGA-IB-7885-01A-11D-2154-08	3710133	78973707	62239724	62	23283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	177					0	0	1	0	0	A	79325846	G	A	79325846	2	1	24	1	0	0	0	0	0	0	0	1	12690	1136	40	1		1	PRUNE2	9	79325846	Silent	SNP	G	TCGA-IB-7885-01A-11D-2154-08	352139	79325846	61887585	63	23284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	98					0	0	1	0	0	T	137772750	C	T	137772750	3	4	24	1	0	0	0	0	1	0	0	0	5825	768	27	1	85	1	FCN2	9	137772750	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	58446904	137772750	3440681	64	23285											
EHMT1	79813	broad.mit.edu	37	chr9	140637837	140637837	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttagcttgcttgccttttGttttagcagctgcagtatct	8	8	1	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:140637837G>T	ENST00000460843.1	+	5	865	c.838G>T	c.(838-840)Gtt>Ttt	p.V280F	EHMT1_ENST00000462484.1_Missense_Mutation_p.V280F|EHMT1_ENST00000334856.6_Missense_Mutation_p.V249F|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	280					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	p.V249F(2)|p.V280F(2)		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)		cttgccttttgttttAGCAGC	0.358													14	162					2.32078e-09	2.38133e-09	1	1	0	T	140637837	G	T	140637837	3	4	24	1	0	0	0	0	1	0	0	0	5009	1377	48	2	856	2	EHMT1	9	140637837	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	2865087	140637837	575594	65	23286											
ANK3	288	broad.mit.edu	37	chr10	61831289	61831290	+	Frame_Shift_Ins	INS	-	-	T													cttacattcctgacttatgaINSttttttttacacctccttgt					rs28932171	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:61831289_61831290insT	ENST00000280772.1	-	37	9540_9541	c.9349_9350insA	c.(9349-9351)catfs	p.H3117fs	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3117			I -> V (in dbSNP:rs28932171).		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						CTGACTTATGATTTTTTTTACA	0.401													7	951	---	---	---	---						T	61831290	-	T	61831289	7	5	24	1	0	1	1	0	0	0	0	0	618	333	12	0	4124	0	ANK3	10	61831289	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		61831289	73703458	66	23287											
PRF1	5551	broad.mit.edu	37	chr10	72358049	72358049	+	Frame_Shift_Del	DEL	C	C	-													cagacctgcaacctcaggggCccccctgtggccaggagcac					rs145695221	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:72358049delC	ENST00000441259.1	-	3	1588	c.1428delG	c.(1426-1428)ggfs	p.G476fs	PRF1_ENST00000373209.2_Frame_Shift_Del_p.G476fs	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	476	C2.				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						ACCTCAGGGGCCCCCCTGTGG	0.602			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				7	546	---	---	---	---						-	72358049	C	-	72358049	7	5	24	1	0	1	0	1	0	0	0	0	12530	726	26	0	243	0	PRF1	10	72358049	Frame_Shift_Del	DEL	C	TCGA-IB-7885-01A-11D-2154-08	10526760	72358049	63176698	67	23288											
ZMIZ1	57178	broad.mit.edu	37	chr10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-													tccattacatcacagtggggCtcctcctcctcctccttccc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gct>g	p.AP981del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	981	Pro-rich.				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)			CACAGTGGGGCTCCTCCTCCTCC	0.635													13	938	---	---	---	---						-	81070789	CTC	-	81070787	7	5	24	1	0	1	0	1	0	0	0	0	17754	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-IB-7885-01A-11D-2154-08	8712738	81070787	54463960	68	23289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)cgcfs	p.R22fs	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													9	108	---	---	---	---						CG	98273379	-	CG	98273378	7	5	24	1	0	1	1	0	0	0	0	0	16006	739	26	0	3066	0	TLL2	10	98273378	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	17202591	98273378	37261369	69	23290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436272.1_Silent_p.I432I|MRVI1_ENST00000423302.2_Silent_p.I459I|MRVI1_ENST00000558540.1_Silent_p.I144I|MRVI1_ENST00000527509.2_Silent_p.I368I|MRVI1_ENST00000541483.1_Silent_p.I253I|MRVI1_ENST00000424001.1_Silent_p.I144I|MRVI1_ENST00000552103.1_Silent_p.I368I|MRVI1_ENST00000534266.2_Silent_p.I144I|MRVI1_ENST00000421747.1_Silent_p.I450I|MRVI1_ENST00000531107.1_Silent_p.I451I|MRVI1_ENST00000545852.1_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													16	192					3.45872e-05	3.51835e-05	1	1	0	T	10645395	G	T	10645395	2	4	24	1	0	0	0	0	0	0	0	1	9902	1164	41	2		2	MRVI1	11	10645395	Silent	SNP	G	TCGA-IB-7885-01A-11D-2154-08		10645395	124361121	70	23291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379016.3_Missense_Mutation_p.D951V|HIPK3_ENST00000456517.1_Missense_Mutation_p.D951V|HIPK3_ENST00000525975.1_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													25	282					0	0	1	0	0	T	33373261	A	T	33373261	3	4	24	1	0	0	0	0	1	0	0	0	7159	275	10	5	2969	5	HIPK3	11	33373261	Missense_Mutation	SNP	A	TCGA-IB-7885-01A-11D-2154-08	22727866	33373261	101633255	71	23292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000532820.1_Missense_Mutation_p.P410A|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.P410A|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.P329A|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													20	179					0	0	1	0	0	G	34107957	C	G	34107957	3	3	24	1	0	0	0	0	1	0	0	0	2653	855	30	5	1266	5	CAPRIN1	11	34107957	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	734696	34107957	100898559	72	23293											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	355					0	0	1	0	0	T	47203984	C	T	47203984	3	4	24	1	0	0	0	0	1	0	0	0	11423	739	26	2	1125	2	PACSIN3	11	47203984	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	13096027	47203984	87802532	73	23294											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	12	89					0	0	1	0	0	A	58347089	G	A	58347089	3	1	24	1	0	0	0	0	1	0	0	0	17713	1058	37	1	337	1	ZFP91	11	58347089	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	11143105	58347089	76659427	74	23295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409619.2_Silent_p.G1893G|MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000458637.2_Silent_p.G1904G	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													4	62					0	0	1	0	0	G	76918417	A	G	76918417	2	3	24	1	0	0	0	0	0	0	0	1	10130	320	12	3		3	MYO7A	11	76918417	Silent	SNP	A	TCGA-IB-7885-01A-11D-2154-08	18571328	76918417	58088099	75	23296											
FOLH1B	219595	broad.mit.edu	37	chr11	89407177	89407177	+	RNA	DEL	C	C	-													tcaatgacttttttttttttCcccaatctgggcttggtagt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:89407177delC	ENST00000532352.1	+	0	1114							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						TTTTTTTTTTCCCCAATCTGG	0.303													8	180	---	---	---	---						-	89407177	C	-	89407177	6	5	24	0	1	1	0	1	0	0	0	0	6013	870	30	0		0	FOLH1B	11	89407177	RNA	DEL	C	TCGA-IB-7885-01A-11D-2154-08	12488760	89407177	45599339	76	23297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	325					0	0	1	0	0	A	94862206	G	A	94862206	2	1	24	1	0	0	0	0	0	0	0	1	5142	991	35	2		2	ENDOD1	11	94862206	Silent	SNP	G	TCGA-IB-7885-01A-11D-2154-08	5455029	94862206	40144310	77	23298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Silent_p.D509D	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													6	57					0	0	1	0	0	T	113126681	C	T	113126681	2	4	24	1	0	0	0	0	0	0	0	1	10249	535	19	1		1	NCAM1	11	113126681	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	18264475	113126681	21879835	78	23299											
FOXJ2	55810	broad.mit.edu	37	chr12	8200558	8200560	+	In_Frame_Del	DEL	CAG	CAG	-													agcagccaccgccacctcaaCagcagcagcagcagcagcag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:8200558_8200560delCAG	ENST00000162391.3	+	7	2043_2045	c.898_900delCAG	c.(898-900)del	p.Q306del	FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	306	Poly-Gln.				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)		gccacctcaacagcagcagcagc	0.64													14	291	---	---	---	---						-	8200560	CAG	-	8200558	7	5	24	1	0	1	0	1	0	0	0	0	6046	479	17	0	920	0	FOXJ2	12	8200558	In_Frame_Del	DEL	CAG	TCGA-IB-7885-01A-11D-2154-08		8200558	125651337	79	23300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266509.2_Missense_Mutation_p.R73S|SLCO1C1_ENST00000545102.1_Intron|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													35	417					2.47316e-13	2.55994e-13	1	1	0	T	20854341	G	T	20854341	3	4	24	1	0	0	0	0	1	0	0	0	14780	1252	44	2	225	2	SLCO1C1	12	20854341	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	12653783	20854341	112997554	80	23301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ABCC9_ENST00000261201.4_Missense_Mutation_p.S1054T|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.S1018T	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													42	387					0	0	1	0	0	T	21997786	A	T	21997786	3	4	24	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	81	23302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)			7	88					0.0381472	0.0384733	1	1	0	A	25398284	C	A	25398284	3	1	24	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	3400498	25398284	108453611	82	23303											
CLIP1	6249	broad.mit.edu	37	chr12	122812693	122812694	+	Frame_Shift_Ins	INS	-	-	T													ctgacactggttgtggcttgINStttccattttcttttcctgc					rs77289752		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:122812693_122812694insT	ENST00000358808.2	-	16	3170_3171	c.3016_3017insA	c.(3016-3018)aagfs	p.K1006fs	CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.K592fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.K1017fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.K971fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.K1006fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.K895fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1017					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)		GTTGTGGCTTGTTTCCATTTTC	0.505													7	913	---	---	---	---						T	122812694	-	T	122812693	7	5	24	1	0	1	1	0	0	0	0	0	3555	1377	48	0	1306	0	CLIP1	12	122812693	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	97414409	122812693	11039202	83	23304											
SNRNP35	11066	broad.mit.edu	37	chr12	123950525	123950525	+	Frame_Shift_Del	DEL	A	A	-													cttggaggcggtcttgggggAaaaaaggagtctgggcaact							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:123950525delA	ENST00000526639.2	+	2	1017	c.438delA	c.(436-438)ggfs	p.G146fs	SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000412157.2_Frame_Shift_Del_p.G151fs|SNRNP35_ENST00000350887.5_Frame_Shift_Del_p.G146fs	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	146					mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GTCTTGGGGGAAAAAAGGAGT	0.502													7	508	---	---	---	---						-	123950525	A	-	123950525	7	5	24	1	0	1	0	1	0	0	0	0	14909	233	9	0	459	0	SNRNP35	12	123950525	Frame_Shift_Del	DEL	A	TCGA-IB-7885-01A-11D-2154-08	1137832	123950525	9901370	84	23305											
ZIC2	7546	broad.mit.edu	37	chr13	100635045	100635045	+	Frame_Shift_Del	DEL	T	T	-													accaccaccaccccggtgccTttttccgctatatgcggcag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr13:100635045delT	ENST00000376335.3	+	1	1020	c.727delT	c.(727-729)ttfs	p.F244fs		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	244	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)					ccCCGGTGCCTTTTTCCGCTA	0.562													7	444	---	---	---	---						-	100635045	T	-	100635045	7	5	24	1	0	1	0	1	0	0	0	0	17737	1609	56	0	729	0	ZIC2	13	100635045	Frame_Shift_Del	DEL	T	TCGA-IB-7885-01A-11D-2154-08		100635045	14534833	85	23306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453196.1_Silent_p.T25T|NIN_ENST00000382041.3_Silent_p.T25T|NIN_ENST00000324330.9_Silent_p.T25T|NIN_ENST00000382043.4_Silent_p.T25T|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000530997.2_Silent_p.T25T|NIN_ENST00000389868.3_Silent_p.T25T	NM_020921.3	NP_065972.3	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								111	1125					0	0	1	0	0	G	51288700	T	G	51288700	2	3	24	1	0	0	0	0	0	0	0	1	10464	1567	55	3		3	NIN	14	51288700	Silent	SNP	T	TCGA-IB-7885-01A-11D-2154-08		51288700	56060840	86	23307											
SYNE2	23224	broad.mit.edu	37	chr14	64486773	64486773	+	Frame_Shift_Del	DEL	T	T	-													gaagagtggctgaaatacagTttttgctccaaagcagtgaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:64486773delT	ENST00000358025.3	+	35	5343	c.5113delT	c.(5113-5115)ttfs	p.F1705fs	SYNE2_ENST00000554584.1_Frame_Shift_Del_p.F1705fs|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Frame_Shift_Del_p.F1705fs	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1705					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)		TGAAATACAGTTTTTGCTCCA	0.303													7	395	---	---	---	---						-	64486773	T	-	64486773	7	5	24	1	0	1	0	1	0	0	0	0	15503	1725	60	0	5247	0	SYNE2	14	64486773	Frame_Shift_Del	DEL	T	TCGA-IB-7885-01A-11D-2154-08	13198073	64486773	42862767	87	23308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000559004.1_Silent_p.C318C|ACAN_ENST00000352105.7_Silent_p.C318C|ACAN_ENST00000561243.1_Silent_p.C318C|ACAN_ENST00000558207.1_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													11	189					0	0	1	0	0	T	89386782	C	T	89386782	2	4	24	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		89386782	13144610	88	23309											
EME2	197342	broad.mit.edu	37	chr16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-													ggctgcaggtgaacaggaatTgctgctgctgctggagcccg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr16:1824298_1824300delTGC	ENST00000307394.7	+	3	422_424	c.422_424delTGC	c.(421-426)ttg>t	p.LL143del	EME2_ENST00000568449.1_In_Frame_Del_p.LL143del			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	143					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination					7	480	---	---	---	---						-	1824300	TGC	-	1824298	7	5	24	1	0	1	0	1	0	0	0	0	5117	1821	63	0	432	0	EME2	16	1824298	In_Frame_Del	DEL	TGC	TCGA-IB-7885-01A-11D-2154-08		1824298	88530455	89	23310											
SALL1	6299	broad.mit.edu	37	chr16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-													gaggagctgccgccgccgccGctgctgctgctgctgctgct					rs13336129	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr16:51175656_51175658delGCT	ENST00000440970.1	-	2	615_617	c.184_186delAGC	c.(184-186)del	p.S62del	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159					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	p.S159G(1)		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)			cgccgccgccgctgctgctgctg	0.631													24	288	---	---	---	---						-	51175658	GCT	-	51175656	7	5	24	1	0	1	0	1	0	0	0	0	13862	1078	38	0	3505	0	SALL1	16	51175656	In_Frame_Del	DEL	GCT	TCGA-IB-7885-01A-11D-2154-08	49351358	51175656	39179097	90	23311											
NFAT5	10725	broad.mit.edu	37	chr16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-													aaaacacgttatctaatcaaCagcagcagcagcagcagcaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr16:69726420_69726422delCAG	ENST00000349945.1	+	14	3962_3964	c.2410_2412delCAG	c.(2410-2412)del	p.Q812del	NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q804Q(1)|p.Q898Q(1)		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						ATCTAATcaacagcagcagcagc	0.473													8	353	---	---	---	---						-	69726422	CAG	-	69726420	7	5	24	1	0	1	0	1	0	0	0	0	10407	479	17	0	2742	0	NFAT5	16	69726420	In_Frame_Del	DEL	CAG	TCGA-IB-7885-01A-11D-2154-08	18550764	69726420	20628333	91	23312											
CA5A	763	broad.mit.edu	37	chr16	87936054	87936055	+	Frame_Shift_Del	DEL	CC	CC	-													taaaaacacgcctatcacagCcaaaccattctctcccacga							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr16:87936054_87936055delCC	ENST00000309893.2	-	4	596_597	c.531_532delGG	c.(529-534)ttctfs	p.LA177fs		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	177					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		CCTATCACAGCCAAACCATTCT	0.376													8	424	---	---	---	---						-	87936055	CC	-	87936054	7	5	24	1	0	1	0	1	0	0	0	0	2537	739	26	0	401	0	CA5A	16	87936054	Frame_Shift_Del	DEL	CC	TCGA-IB-7885-01A-11D-2154-08	18209634	87936054	2418699	92	23313											
ACE	1636	broad.mit.edu	37	chr17	61560495	61560495	+	Frame_Shift_Del	DEL	C	C	-													gggggtctttagtgggcgtaCccccccttcccgctacaact							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:61560495delC	ENST00000290866.4	+	9	1472	c.1448delC	c.(1447-1449)acfs	p.T483fs	ACE_ENST00000428043.1_Frame_Shift_Del_p.T483fs|ACE_ENST00000584529.1_Intron|ACE_ENST00000538928.1_Intron	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	483	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)	AGTGGGCGTACCCCCCCTTCC	0.562													7	1268	---	---	---	---						-	61560495	C	-	61560495	7	5	24	1	0	1	0	1	0	0	0	0	136	507	18	0	1482	0	ACE	17	61560495	Frame_Shift_Del	DEL	C	TCGA-IB-7885-01A-11D-2154-08		61560495	19634715	93	23314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	MRPL12_ENST00000333676.3_Silent_p.A116A|SLC25A10_ENST00000541223.1_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													12	153					0	0	1	0	0	A	79673938	G	A	79673938	2	1	24	1	0	0	0	0	0	0	0	1	14527	1103	39	1		1	SLC25A10	17	79673938	Silent	SNP	G	TCGA-IB-7885-01A-11D-2154-08	18113443	79673938	1521272	94	23315											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.R131C	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													11	347					0	0	1	0	0	A	28736086	G	A	28736086	3	1	24	1	0	0	0	0	1	0	0	0	4791	1087	38	1	2385	1	DSC1	18	28736086	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08		28736086	49341162	95	23316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	270					0	0	1	0	0	A	71790624	G	A	71790624	3	1	24	1	0	0	0	0	1	0	0	0	5761	1058	37	1	427	1	FBXO15	18	71790624	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	43054538	71790624	6286624	96	23317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_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													56	254					0	0	1	0	0	T	55247491	C	T	55247491	2	4	24	1	0	0	0	0	0	0	0	1	8365	776	27	1		1	KIR3DL3	19	55247491	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08		55247491	3881492	97	23318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	338					0	0	1	0	0	A	44506266	G	A	44506266	3	1	24	1	0	0	0	0	1	0	0	0	18282	1145	40	1	1075	1	ZSWIM3	20	44506266	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08		44506266	18519254	98	23319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000370018.3_Silent_p.A76A|RTEL1_ENST00000508582.2_Silent_p.A76A|RTEL1_ENST00000360203.5_Silent_p.A76A|RTEL1_ENST00000488316.1_3'UTR|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.A76A			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													14	229					0	0	1	0	0	A	62292776	G	A	62292776	2	1	24	1	0	0	0	0	0	0	0	1	13772	1074	38	1		1	RTEL1	20	62292776	Silent	SNP	G	TCGA-IB-7885-01A-11D-2154-08	17786510	62292776	732744	99	23320											
APP	351	broad.mit.edu	37	chr21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-													ccacctcttccacagactctGtggtggtggtggtggtggtg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr21:27394182_27394184delGTG	ENST00000358918.3	-	6	1036_1038	c.837_839delCAC	c.(835-840)aca>ac	p.TT279del	APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000474136.1_5'UTR|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				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)				CACAGACTCTgtggtggtggtgg	0.522													9	172	---	---	---	---						-	27394184	GTG	-	27394182	7	5	24	1	0	1	0	1	0	0	0	0	812	1377	48	0	1525	0	APP	21	27394182	In_Frame_Del	DEL	GTG	TCGA-IB-7885-01A-11D-2154-08		27394182	20735713	100	23321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:21213614G>A	ENST00000215730.6	+	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	72					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													10	120					0	0	1	0	0	A	21213614	G	A	21213614	2	1	24	1	0	0	0	0	0	0	0	1	14885	991	35	2		2	SNAP29	22	21213614	Silent	SNP	G	TCGA-IB-7885-01A-11D-2154-08		21213614	30090952	101	23322											
HMGXB4	10042	broad.mit.edu	37	chr22	35661575	35661576	+	Frame_Shift_Del	DEL	AG	AG	-													aaaaaagaagagaaggacaaAgagagagagagaggagaaaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:35661575_35661576delAG	ENST00000216106.5	+	5	1322_1323	c.1194_1195delAG	c.(1192-1197)aaagfs	p.KE398fs	HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.KE289fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	398					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						agaaggacaaagagagagagag	0.465													7	112	---	---	---	---						-	35661576	AG	-	35661575	7	5	24	1	0	1	0	1	0	0	0	0	7280	69	3	0	1208	0	HMGXB4	22	35661575	Frame_Shift_Del	DEL	AG	TCGA-IB-7885-01A-11D-2154-08	14447961	35661575	15642991	102	23323											
MKL1	57591	broad.mit.edu	37	chr22	40816887	40816889	+	In_Frame_Del	DEL	TGC	TGC	-													ggatggcctggtagttgtggTgctgctgctgctgctggttg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:40816887_40816889delTGC	ENST00000396617.3	-	10	1433_1435	c.843_845delGCA	c.(841-846)cac>ca	p.QH281del	MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del|MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del|MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	281	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						GTAGTTGTGGTGCTGCTGCTGCT	0.66			T	RBM15	acute megakaryocytic leukemia								7	250	---	---	---	---						-	40816889	TGC	-	40816887	7	5	24	1	0	1	0	1	0	0	0	0	9649	1696	59	0	1974	0	MKL1	22	40816887	In_Frame_Del	DEL	TGC	TCGA-IB-7885-01A-11D-2154-08	5155312	40816887	10487679	103	23324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				29	335					0	0	1	0	0	G	41533755	A	G	41533755	3	3	24	1	0	0	0	0	1	0	0	0	5176	333	12	3	1751	3	EP300	22	41533755	Missense_Mutation	SNP	A	TCGA-IB-7885-01A-11D-2154-08	716868	41533755	9770811	104	23325											
ZC3H7B	23264	broad.mit.edu	37	chr22	41753399	41753401	+	In_Frame_Del	DEL	CTG	CTG	-													cggtgccaccccagaagcccCtgctgctgctgccaccgcca							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:41753399_41753401delCTG	ENST00000352645.4	+	23	3157_3159	c.2900_2902delCTG	c.(2899-2904)cct>c	p.PA967del	ZC3H7B_ENST00000351589.4_In_Frame_Del_p.PA967del	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	983					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						CCAGAAGCCCCTGCTGCTGCTGC	0.65													8	846	---	---	---	---						-	41753401	CTG	-	41753399	7	5	24	1	0	1	0	1	0	0	0	0	17632	681	24	0	2986	0	ZC3H7B	22	41753399	In_Frame_Del	DEL	CTG	TCGA-IB-7885-01A-11D-2154-08	219644	41753399	9551167	105	23326											
ASB11	0	broad.mit.edu	37	chrX	15333659	15333660	+	Frame_Shift_Ins	INS	-	-	A													ctttaattaaaagcttaaagINSaaaaaaaacgtagcaaacat							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:15333659_15333660insA	ENST00000380470.3	-	1	86_87	c.68_69insT	c.(67-69)tttfs	p.F23fs	ASB11_ENST00000480796.1_Frame_Shift_Ins_p.F23fs	NM_001201583.1|NM_080873.2	NP_001188512.1|NP_543149.1	Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	23					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)					AAAGCTTAAAGAAAAAAAACGT	0.342													8	549	---	---	---	---						A	15333660	-	A	15333659	7	5	24	1	0	1	1	0	0	0	0	0	1014	933	33	0	1052	0	ASB11	23	15333659	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		15333659	139936901	106	23327											
RAI2	10742	broad.mit.edu	37	chrX	17818550	17818550	+	Frame_Shift_Del	DEL	A	A	-													gccgttatttactttcttggAaaaaaggtggccagccgttg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:17818550delA	ENST00000545871.1	-	3	2041	c.1581delT	c.(1579-1581)ttfs	p.F527fs	RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs|RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	527					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ACTTTCTTGGAAAAAAGGTGG	0.333													7	2264	---	---	---	---						-	17818550	A	-	17818550	7	5	24	1	0	1	0	1	0	0	0	0	13061	243	9	0	15	0	RAI2	23	17818550	Frame_Shift_Del	DEL	A	TCGA-IB-7885-01A-11D-2154-08	2484891	17818550	137452010	107	23328											
ZXDB	158586	broad.mit.edu	37	chrX	57619097	57619097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcctgcccagcagcccGggtgtctgatcgccccgcaa	11	19	1	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711													6	102					0	0	1	0	0	A	57619097	G	A	57619097	3	1	24	1	0	0	0	0	1	0	0	0	18291	1116	39	1	618	1	ZXDB	23	57619097	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	39800547	57619097	97651463	108	23329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000276072.3_Missense_Mutation_p.M1446V|TAF1_ENST00000373790.4_Missense_Mutation_p.M1425V|TAF1_ENST00000423759.1_Missense_Mutation_p.M1446V			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													33	410					0	0	1	0	0	G	70627893	A	G	70627893	3	3	24	1	0	0	0	0	1	0	0	0	15570	101	4	3	4446	3	TAF1	23	70627893	Missense_Mutation	SNP	A	TCGA-IB-7885-01A-11D-2154-08	13008796	70627893	84642667	109	23330											
GUCY2F	2986	broad.mit.edu	37	chrX	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-													ggaaggggcttcatgaagccTtttttcccaatcagccagaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					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						TCATGAAGCCTTTTTTCCCAA	0.418													11	1056	---	---	---	---						-	108619355	T	-	108619355	7	5	24	1	0	1	0	1	0	0	0	0	6939	1606	56	0	142	0	GUCY2F	23	108619355	Frame_Shift_Del	DEL	T	TCGA-IB-7885-01A-11D-2154-08	37991462	108619355	46651205	110	23331											
AFF2	2334	broad.mit.edu	37	chrX	148044334	148044334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagaggaccctccacgccGcagaaatgtcagtggcaata	11	13	1	2	rs140927355	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:148044334G>A	ENST00000370460.2	+	13	3259	c.2780G>A	c.(2779-2781)cGc>cAc	p.R927H	AFF2_ENST00000342251.3_Missense_Mutation_p.R894H|AFF2_ENST00000286437.5_Missense_Mutation_p.R568H|AFF2_ENST00000370457.5_Missense_Mutation_p.R894H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	927					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)					CCTCCACGCCGCAGAAATGTC	0.438													36	256					0	0	1	0	0	A	148044334	G	A	148044334	3	1	24	1	0	0	0	0	1	0	0	0	356	1087	38	1	2885	1	AFF2	23	148044334	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	39424979	148044334	7226226	111	23332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538282.1_Missense_Mutation_p.V247M|PLXNB3_ENST00000538543.1_Intron|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													9	117					0	0	1	0	0	A	153035996	G	A	153035996	3	1	24	1	0	0	0	0	1	0	0	0	12173	1145	40	1	2061	1	PLXNB3	23	153035996	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	4991662	153035996	2234564	112	23333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								24	566					0	0	0.083992	0	0	T	7796575	C	T	7796575	2	4	25	1	0	0	0	0	0	0	0	1	2631	680	24	2		2	CAMTA1	1	7796575	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08		7796575	241454046	1	23334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	438					0	0	0.132662	0	0	A	12423195	G	A	12423195	3	1	25	1	0	0	0	0	1	0	0	0	17252	1116	39	1	10542	1	VPS13D	1	12423195	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	4626620	12423195	236827426	2	23335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398863.2_Missense_Mutation_p.R72W|EPB41_ENST00000373797.1_Missense_Mutation_p.R72W|EPB41_ENST00000373798.1_Missense_Mutation_p.R72W|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000356093.2_Missense_Mutation_p.R72W|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_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													6	946					0	0	0.02938	0	0	T	29314163	C	T	29314163	3	4	25	1	0	0	0	0	1	0	0	0	5179	759	27	1	216	1	EPB41	1	29314163	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	16890968	29314163	219936458	3	23336											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000530076.1_Missense_Mutation_p.A80V|PPT1_ENST00000372775.2_5'UTR	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													6	821					0	0	0.02938	0	0	A	40539758	G	A	40539758	3	1	25	1	0	0	0	0	1	0	0	0	12460	1203	42	2	28	2	PPT1	1	40539758	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	11225595	40539758	208710863	4	23337											
PTPRF	5792	broad.mit.edu	37	chr1	44071948	44071948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggcggagaggagcagcGgcggcggcggcggcaggcag	23	10	0	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:44071948G>A	ENST00000359947.4	+	20	3861	c.3521G>A	c.(3520-3522)cGg>cAg	p.R1174Q	PTPRF_ENST00000438120.1_Missense_Mutation_p.R1165Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1165Q|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1174Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.R522Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1174					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)				GAGGAGCAGCGGCGGCGGCGG	0.632													7	557					0	0	0.02938	0	0	A	44071948	G	A	44071948	3	1	25	1	0	0	0	0	1	0	0	0	12853	1116	39	1	3591	1	PTPRF	1	44071948	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	3532190	44071948	205178673	5	23338											
HAX1	10456	broad.mit.edu	37	chr1	154246357	154246357	+	Frame_Shift_Del	DEL	G	G	-													gtcaccagcccaggatctttGggggggtcttggagagtgat							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:154246357delG	ENST00000328703.7	+	3	637	c.424delG	c.(424-426)ggfs	p.G143fs	HAX1_ENST00000532105.1_Frame_Shift_Del_p.G15fs|HAX1_ENST00000457918.2_Frame_Shift_Del_p.G95fs|HAX1_ENST00000483970.2_Frame_Shift_Del_p.G151fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	143	Involved in HCLS1 binding.					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGGATCTTTGGGGGGGTCTT	0.552									Kostmann syndrome				7	916	---	---	---	---						-	154246357	G	-	154246357	7	5	25	1	0	1	0	1	0	0	0	0	7016	1348	47	0	434	0	HAX1	1	154246357	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	110174409	154246357	95004264	6	23339											
OR10Z1	128368	broad.mit.edu	37	chr1	158576487	158576487	+	Frame_Shift_Del	DEL	G	G	-													gaatgctctctggcctggctGggggggaccaggctatctcc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:158576487delG	ENST00000361284.1	+	1	259	c.259delG	c.(259-261)ggfs	p.G88fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	88					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)					TGGCCTGGCTGGGGGGGACCA	0.552													7	1254	---	---	---	---						-	158576487	G	-	158576487	7	5	25	1	0	1	0	1	0	0	0	0	10971	1348	47	0	261	0	OR10Z1	1	158576487	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	4330130	158576487	90674134	7	23340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	479					0	0	0.043863	0	0	T	175086325	C	T	175086325	2	4	25	1	0	0	0	0	0	0	0	1	16383	477	17	2		2	TNN	1	175086325	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08	16509838	175086325	74164296	8	23341											
PAPPA2	60676	broad.mit.edu	37	chr1	176525710	176525710	+	Frame_Shift_Del	DEL	G	G	-													tacctaaggccctaccccgtGggggagcaagaaatccatca							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:176525710delG	ENST00000367662.3	+	2	1416	c.252delG	c.(250-252)gtfs	p.V84fs	PAPPA2_ENST00000367661.3_Frame_Shift_Del_p.V84fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	84					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						CCTACCCCGTGGGGGAGCAAG	0.567													7	1302	---	---	---	---						-	176525710	G	-	176525710	7	5	25	1	0	1	0	1	0	0	0	0	11480	1335	47	0	254	0	PAPPA2	1	176525710	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	1439385	176525710	72724911	9	23342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	390					0	0	0.058154	0	0	T	185931765	C	T	185931765	2	4	25	1	0	0	0	0	0	0	0	1	7261	535	19	1		1	HMCN1	1	185931765	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08	9406055	185931765	63318856	10	23343											
PRG4	10216	broad.mit.edu	37	chr1	186276027	186276027	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaagtctgcacccaccacTcccaaggagcctgcacccac	6	20	1	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:186276027T>C	ENST00000445192.2	+	7	1221	c.1176T>C	c.(1174-1176)acT>acC	p.T392T	PRG4_ENST00000367486.3_Silent_p.T349T|PRG4_ENST00000367485.4_Silent_p.T299T|PRG4_ENST00000367484.3_Silent_p.T351T|PRG4_ENST00000367483.4_Silent_p.T351T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	392	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						CACCCACCACTCCCAAGGAGC	0.637													24	836					0	0	0.139131	0	0	C	186276027	T	C	186276027	2	2	25	1	0	0	0	0	0	0	0	1	12533	1538	54	3		3	PRG4	1	186276027	Silent	SNP	T	TCGA-IB-8126-01A-11D-2396-08	344262	186276027	62974594	11	23344											
PRG4	10216	broad.mit.edu	37	chr1	186277098	186277098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccacctgtgacaagccCgctccaactacccctaaggg	7	18	0	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:186277098C>T	ENST00000445192.2	+	7	2292	c.2247C>T	c.(2245-2247)ccC>ccT	p.P749P	PRG4_ENST00000367486.3_Silent_p.P706P|PRG4_ENST00000367485.4_Silent_p.P656P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.P708P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	749	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						GTGACAAGCCCGCTCCAACTA	0.607													8	1116					0	0	0.09319	0	0	T	186277098	C	T	186277098	2	4	25	1	0	0	0	0	0	0	0	1	12533	639	23	1		1	PRG4	1	186277098	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08	1071	186277098	62973523	12	23345											
ACBD3	64746	broad.mit.edu	37	chr1	226352490	226352491	+	Splice_Site	INS	-	-	T													ccatgccctcaaacttcaccINStttttttttcttgctcttcc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:226352490_226352491insT	ENST00000366812.5	-	3	622_623	c.569_splice	c.e3+1	p.E190_splice		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	190	Glu-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)		CAAACTTCACCTTTTTTTTTCT	0.411													7	311	---	---	---	---						T	226352491	-	T	226352490	8	5	25	1	0	1	1	0	0	0	1	0	123	695	24	0	1041	0	ACBD3	1	226352490	Splice_Site	INS	-	TCGA-IB-8126-01A-11D-2396-08	40075392	226352490	22898131	13	23346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	335					0	0	0.014758	0	0	A	227968309	G	A	227968309	3	1	25	1	0	0	0	0	1	0	0	0	14886	971	34	2	1348	2	SNAP47	1	227968309	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	1615819	227968309	21282312	14	23347											
OTOF	9381	broad.mit.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-													tctggctcctccgcagtgccCttcttcttcttcttcttctc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)del	p.K1310del	OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				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)					CCGCAGTGCCcttcttcttcttc	0.576													16	516	---	---	---	---						-	26693556	CTT	-	26693554	7	5	25	1	0	1	0	1	0	0	0	0	11350	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-IB-8126-01A-11D-2396-08		26693554	216505819	15	23348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				6	248					0	0	0.038147	0	0	T	30143012	C	T	30143012	3	4	25	1	0	0	0	0	1	0	0	0	521	893	31	1	4464	1	ALK	2	30143012	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	3449458	30143012	213056361	16	23349											
AFTPH	54812	broad.mit.edu	37	chr2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-													cattagacaatggagcagagGatgatgatgatgatgaattt							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)del	p.D26del	AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					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						TGGAGCAGAGGATGATGATGATG	0.409													7	658	---	---	---	---						-	64778674	GAT	-	64778672	7	5	25	1	0	1	0	1	0	0	0	0	363	1174	41	0	66	0	AFTPH	2	64778672	In_Frame_Del	DEL	GAT	TCGA-IB-8126-01A-11D-2396-08	34635660	64778672	178420701	17	23350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	432					0	0	0.02938	0	0	A	103335481	G	A	103335481	3	1	25	1	0	0	0	0	1	0	0	0	9589	1086	38	1	605	1	MFSD9	2	103335481	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	38556809	103335481	139863892	18	23351											
ERCC3	2071	broad.mit.edu	37	chr2	128046944	128046946	+	In_Frame_Del	DEL	TCT	TCT	-													caaaagacactgtctgtgtcTcttcttcttcttcttcatcc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:128046944_128046946delTCT	ENST00000493187.2	-	6	1060_1062	c.597_599delAGA	c.(595-600)gag>ga	p.EE199del	ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	263					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)		TGTCTGTGTCTCTTCTTCTTCTT	0.473			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				7	262	---	---	---	---						-	128046946	TCT	-	128046944	7	5	25	1	0	1	0	1	0	0	0	0	5242	1551	54	0	1597	0	ERCC3	2	128046944	In_Frame_Del	DEL	TCT	TCGA-IB-8126-01A-11D-2396-08	24711463	128046944	115152429	19	23352											
UPP2	151531	broad.mit.edu	37	chr2	158971631	158971631	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttgtctgtgtcggtgggAgccccaacagaatgaaagca	13	8	1	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:158971631A>G	ENST00000605860.1	+	6	416	c.370A>G	c.(370-372)Agc>Ggc	p.S124G	UPP2_ENST00000409859.4_Missense_Mutation_p.S124G|UPP2_ENST00000460456.1_Intron|UPP2_ENST00000005756.4_Missense_Mutation_p.S67G			O95045	UPP2_HUMAN	uridine phosphorylase 2	67					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						TGTCGGTGGGAGCCCCAACAG	0.428													31	330					0	0	0.139131	0	0	G	158971631	A	G	158971631	3	3	25	1	0	0	0	0	1	0	0	0	17073	304	11	3	388	3	UPP2	2	158971631	Missense_Mutation	SNP	A	TCGA-IB-8126-01A-11D-2396-08	30924687	158971631	84227742	20	23353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	481					0	0	0.160694	0	0	G	164466495	A	G	164466495	3	3	25	1	0	0	0	0	1	0	0	0	5924	391	14	3	436	3	FIGN	2	164466495	Missense_Mutation	SNP	A	TCGA-IB-8126-01A-11D-2396-08	5494864	164466495	78732878	21	23354											
ITGAV	3685	broad.mit.edu	37	chr2	187521085	187521085	+	Frame_Shift_Del	DEL	G	G	-													caagaacatgactatttcaaGggggggactgatgcagtgtg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:187521085delG	ENST00000261023.3	+	17	1950	c.1676delG	c.(1675-1677)agfs	p.R559fs	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Del_p.R513fs|ITGAV_ENST00000374907.3_Frame_Shift_Del_p.R523fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					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)		ACTATTTCAAGGGGGGGACTG	0.428													8	996	---	---	---	---						-	187521085	G	-	187521085	7	5	25	1	0	1	0	1	0	0	0	0	7932	1000	35	0	1793	0	ITGAV	2	187521085	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	23054590	187521085	55678288	22	23355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	302					0	0	0.047766	0	0	A	224758990	G	A	224758990	2	1	25	1	0	0	0	0	0	0	0	1	17328	1074	38	1		1	WDFY1	2	224758990	Silent	SNP	G	TCGA-IB-8126-01A-11D-2396-08	37237905	224758990	18440383	23	23356											
NUP210	23225	broad.mit.edu	37	chr3	13438890	13438890	+	Frame_Shift_Del	DEL	G	G	-													ggcctggatcttcagctccaGgggggagtcctccaggtaga							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:13438890delG	ENST00000254508.5	-	3	485	c.403delC	c.(403-405)tgfs	p.L135fs		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	135					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)					TTCAGCTCCAGGGGGGAGTCC	0.602													7	409	---	---	---	---						-	13438890	G	-	13438890	7	5	25	1	0	1	0	1	0	0	0	0	10808	991	35	0	5412	0	NUP210	3	13438890	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08		13438890	184583540	24	23357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	404					0	0	0.014758	0	0	A	24231773	G	A	24231773	2	1	25	1	0	0	0	0	0	0	0	1	15935	1136	40	1		1	THRB	3	24231773	Silent	SNP	G	TCGA-IB-8126-01A-11D-2396-08	10792883	24231773	173790657	25	23358											
NKTR	4820	broad.mit.edu	37	chr3	42679764	42679764	+	Frame_Shift_Del	DEL	A	A	-													gaacgggaatgccctcattcAaaaaaaagaactttgaaaga							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:42679764delA	ENST00000232978.8	+	13	2756	c.2568delA	c.(2566-2568)tcfs	p.S856fs	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	856					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)		GCCCTCATTCAAAAAAAAGAA	0.373													7	411	---	---	---	---						-	42679764	A	-	42679764	7	5	25	1	0	1	0	1	0	0	0	0	10495	117	5	0	2614	0	NKTR	3	42679764	Frame_Shift_Del	DEL	A	TCGA-IB-8126-01A-11D-2396-08	18447991	42679764	155342666	26	23359											
CELSR3	1951	broad.mit.edu	37	chr3	48685385	48685385	+	Frame_Shift_Del	DEL	C	C	-													gtagcgagggtagcgacgggCcccccggggagaactggggt							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:48685385delC	ENST00000544264.1	-	21	7313	c.7033delG	c.(7033-7035)ccfs	p.A2345fs	CELSR3_ENST00000164024.4_Frame_Shift_Del_p.A2340fs			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2340					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)		TAGCGACGGGCCCCCCGGGGA	0.632													7	1161	---	---	---	---						-	48685385	C	-	48685385	7	5	25	1	0	1	0	1	0	0	0	0	3245	739	26	0	2984	0	CELSR3	3	48685385	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	6005621	48685385	149337045	27	23360											
LRIG1	26018	broad.mit.edu	37	chr3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-													caggcaaaggtcatgggggaGctgctgctgctggctgctga							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:66436625_66436627delGCT	ENST00000383703.3	-	14	2242_2244	c.1639_1641delAGC	c.(1639-1641)del	p.S548del	SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	524	Ig-like C2-type 1.					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)		TCATGGGGGAGCTGCTGCTGCTG	0.547													9	1461	---	---	---	---						-	66436627	GCT	-	66436625	7	5	25	1	0	1	0	1	0	0	0	0	8989	962	34	0	1740	0	LRIG1	3	66436625	In_Frame_Del	DEL	GCT	TCGA-IB-8126-01A-11D-2396-08	17751240	66436625	131585805	28	23361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000283290.5_Missense_Mutation_p.R84Q|ATG3_ENST00000495756.1_5'UTR			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													7	211					0	0	0.02938	0	0	T	112267472	C	T	112267472	3	4	25	1	0	0	0	0	1	0	0	0	1094	652	23	1	725	1	ATG3	3	112267472	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	45830847	112267472	85754958	29	23362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	154					0	0	0.058154	0	0	A	119128441	G	A	119128441	3	1	25	1	0	0	0	0	1	0	0	0	877	1087	38	1	1786	1	ARHGAP31	3	119128441	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	6860969	119128441	78893989	30	23363											
IFT122	55764	broad.mit.edu	37	chr3	129221571	129221571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggttgatcgacatcgcccGcaaactggacaaggctgagc	12	12	0	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:129221571G>A	ENST00000296266.3	+	21	2738	c.2546G>A	c.(2545-2547)cGc>cAc	p.R849H	IFT122_ENST00000504021.1_Missense_Mutation_p.R674H|IFT122_ENST00000440957.2_Missense_Mutation_p.R589H|IFT122_ENST00000431818.2_Missense_Mutation_p.R648H|IFT122_ENST00000507564.1_Missense_Mutation_p.R790H|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000349441.2_Missense_Mutation_p.R687H|IFT122_ENST00000348417.2_Missense_Mutation_p.R798H|IFT122_ENST00000347300.2_Missense_Mutation_p.R739H	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	798					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						GACATCGCCCGCAAACTGGAC	0.597													6	856					0	0	0.021553	0	0	A	129221571	G	A	129221571	3	1	25	1	0	0	0	0	1	0	0	0	7599	1087	38	1	2628	1	IFT122	3	129221571	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	10093130	129221571	68800859	31	23364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	429					0	0	0.069234	0	0	A	130284081	G	A	130284081	3	1	25	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	1062510	130284081	67738349	32	23365											
SLITRK3	22865	broad.mit.edu	37	chr3	164906329	164906331	+	In_Frame_Del	DEL	CCT	CCT	-													ttgggctgatgaaacagccaCctcctcctcctcacgaggct							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:164906329_164906331delCCT	ENST00000475390.1	-	2	2731_2733	c.2288_2290delAGG	c.(2287-2292)gtg>g	p.EV763del	SLITRK3_ENST00000241274.3_In_Frame_Del_p.EV763del			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	763						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						GAAACAGCCACCTCCTCCTCCTC	0.581										HNSCC(40;0.11)			7	569	---	---	---	---						-	164906331	CCT	-	164906329	7	5	25	1	0	1	0	1	0	0	0	0	14798	507	18	0	647	0	SLITRK3	3	164906329	In_Frame_Del	DEL	CCT	TCGA-IB-8126-01A-11D-2396-08	34622248	164906329	33116101	33	23366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	632					0.0809354	0.0826501	0.080935	1	0	T	169539979	G	T	169539979	2	4	25	1	0	0	0	0	0	0	0	1	9076	1335	47	2		2	LRRIQ4	3	169539979	Silent	SNP	G	TCGA-IB-8126-01A-11D-2396-08	4633650	169539979	28482451	34	23367											
MUC20	200958	broad.mit.edu	37	chr3	195453332	195453332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacaaccaacagcagccgaGggacgaacagcaccttagcc	9	15	0	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:195453332G>A	ENST00000320736.6	+	3	1471	c.1345G>A	c.(1345-1347)Ggg>Agg	p.G449R	MUC20_ENST00000447234.2_Missense_Mutation_p.G620R|MUC20_ENST00000445522.2_Missense_Mutation_p.G585R|MUC20_ENST00000436408.1_Missense_Mutation_p.G620R	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	620					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)		CAGCAGCCGAGGGACGAACAG	0.612													7	624					0	0	0.09319	0	0	A	195453332	G	A	195453332	3	1	25	1	0	0	0	0	1	0	0	0	10024	1000	35	2	1355	2	MUC20	3	195453332	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	25913353	195453332	2569098	35	23368											
RFC1	5981	broad.mit.edu	37	chr4	39310612	39310612	+	Frame_Shift_Del	DEL	T	T	-													tttttctttttccttggacaTttttttggggtgttctctcc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:39310612delT	ENST00000381897.1	-	13	1662	c.1529delA	c.(1528-1530)atfs	p.N510fs	RFC1_ENST00000349703.2_Frame_Shift_Del_p.N510fs	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	510					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						TCCTTGGACATTTTTTTGGGG	0.353													7	426	---	---	---	---						-	39310612	T	-	39310612	7	5	25	1	0	1	0	1	0	0	0	0	13296	1493	52	0	1966	0	RFC1	4	39310612	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08		39310612	151843664	36	23369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	369					0	0	0.09319	0	0	G	77661903	C	G	77661903	2	3	25	1	0	0	0	0	0	0	0	1	14350	610	22	5		5	SHROOM3	4	77661903	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08	38351291	77661903	113492373	37	23370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:106157130T>A	ENST00000540549.1	+	3	2891	c.2031T>A	c.(2029-2031)tgT>tgA	p.C677*	TET2_ENST00000545826.1_Nonsense_Mutation_p.C677*|TET2_ENST00000305737.2_Nonsense_Mutation_p.C677*|TET2_ENST00000413648.2_Nonsense_Mutation_p.C677*|TET2_ENST00000394764.1_Nonsense_Mutation_p.C677*|TET2_ENST00000513237.1_Nonsense_Mutation_p.C698*|TET2_ENST00000380013.4_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								5	398					0	0	0.021553	0	0	A	106157130	T	A	106157130	4	1	25	1	0	0	0	0	0	1	0	0	15829	1702	59	5	2033	5	TET2	4	106157130	Nonsense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08	28495227	106157130	84997146	38	23371											
SEC24D	9871	broad.mit.edu	37	chr4	119745872	119745873	+	Frame_Shift_Ins	INS	-	-	G													aacattcccctagtggcggtINSggcccccaaaggccctgctg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:119745872_119745873insG	ENST00000379735.5	-	3	421_422	c.150_151insC	c.(148-153)gcccgcfs	p.R51fs	SEC24D_ENST00000280551.6_Frame_Shift_Ins_p.R51fs|SEC24D_ENST00000419654.2_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	51	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						CTAGTGGCGGTGGCCCCCAAAG	0.54													10	726	---	---	---	---						G	119745873	-	G	119745872	7	5	25	1	0	1	1	0	0	0	0	0	14051	1696	59	0	3031	0	SEC24D	4	119745872	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	13588742	119745872	71408404	39	23372											
NAA15	80155	broad.mit.edu	37	chr4	140258043	140258043	+	Frame_Shift_Del	DEL	A	A	-													taacattgaactgtttggggAaaaaggaagaagcttatgaa							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:140258043delA	ENST00000296543.5	+	3	504	c.181delA	c.(181-183)aafs	p.K62fs	NAA15_ENST00000398947.1_Frame_Shift_Del_p.K62fs|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	62					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						CTGTTTGGGGAAAAAGGAAGA	0.299													8	692	---	---	---	---						-	140258043	A	-	140258043	7	5	25	1	0	1	0	1	0	0	0	0	10166	247	9	0	191	0	NAA15	4	140258043	Frame_Shift_Del	DEL	A	TCGA-IB-8126-01A-11D-2396-08	20512171	140258043	50896233	40	23373											
MAML3	55534	broad.mit.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	14	12	0	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	494	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	0.537													11	202					0	0	0.080935	0	0	T	140811108	C	T	140811108	2	4	25	1	0	0	0	0	0	0	0	1	9257	796	28	2		2	MAML3	4	140811108	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08	553065	140811108	50343168	41	23374											
DHX29	54505	broad.mit.edu	37	chr5	54579209	54579210	+	Frame_Shift_Ins	INS	-	-	C													acttttaccactccctgtttINScacctgccacaaccactacc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:54579209_54579210insC	ENST00000251636.5	-	11	1934_1935	c.1786_1787insG	c.(1786-1788)aacfs	p.N596fs	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	596	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)				ACTCCCTGTTTCACCTGCCACA	0.396													9	652	---	---	---	---						C	54579210	-	C	54579209	7	5	25	1	0	1	1	0	0	0	0	0	4531	1783	62	0	2390	0	DHX29	5	54579209	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08		54579209	126336051	42	23375											
THBS4	7060	broad.mit.edu	37	chr5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-													gatggaattggtgacgagtgTgatgatgatgatgacaatga							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgt>tg	p.CD663del	CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	663					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)		GTGACGAGTGTGATGATGATGAT	0.562													8	1480	---	---	---	---						-	79372776	TGA	-	79372774	7	5	25	1	0	1	0	1	0	0	0	0	15916	1702	59	0	2051	0	THBS4	5	79372774	In_Frame_Del	DEL	TGA	TCGA-IB-8126-01A-11D-2396-08	24793565	79372774	101542486	43	23376											
CSNK1G3	1456	broad.mit.edu	37	chr5	122881495	122881495	+	Frame_Shift_Del	DEL	A	A	-													ggacctaactttagagttggAaaaaaaattggatgtggcaa							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:122881495delA	ENST00000395412.1	+	2	857	c.138delA	c.(136-138)ggfs	p.G46fs	CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000361991.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	46	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)		TTAGAGTTGGAAAAAAAATTG	0.363													9	550	---	---	---	---						-	122881495	A	-	122881495	7	5	25	1	0	1	0	1	0	0	0	0	3981	233	9	0	140	0	CSNK1G3	5	122881495	Frame_Shift_Del	DEL	A	TCGA-IB-8126-01A-11D-2396-08	43508721	122881495	58033765	44	23377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	469					0	0	0.043863	0	0	T	136403476	C	T	136403476	3	4	25	1	0	0	0	0	1	0	0	0	15135	768	27	1	826	1	SPOCK1	5	136403476	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	13521981	136403476	44511784	45	23378											
SH3TC2	79628	broad.mit.edu	37	chr5	148389864	148389865	+	Frame_Shift_Ins	INS	-	-	G													cactgcatgatgcctgtggcINSgggtcccattgaagaacaca							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:148389864_148389865insG	ENST00000538184.1	-	10	2824_2825	c.1936_1937insC	c.(1936-1938)ccafs	p.P646fs	SH3TC2_ENST00000512049.1_Frame_Shift_Ins_p.P1092fs|SH3TC2_ENST00000515425.1_Frame_Shift_Ins_p.P1099fs			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1099							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)			ATGCCTGTGGCGGGTCCCATTG	0.55													7	398	---	---	---	---						G	148389865	-	G	148389864	7	5	25	1	0	1	1	0	0	0	0	0	14317	768	27	0	586	0	SH3TC2	5	148389864	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	11986388	148389864	32525396	46	23379											
DCTN4	51164	broad.mit.edu	37	chr5	150121709	150121710	+	Frame_Shift_Ins	INS	-	-	C													gattttcaggttcctgccaaINSccgccactagctacaaaata							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:150121709_150121710insC	ENST00000447998.2	-	4	510_511	c.395_396insG	c.(394-396)gtgfs	p.V132fs	DCTN4_ENST00000424236.1_Frame_Shift_Ins_p.V75fs|DCTN4_ENST00000446090.2_Frame_Shift_Ins_p.V132fs|DCTN4_ENST00000521093.1_Intron	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	132						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)			GTTCCTGCCAACCGCCACTAGC	0.337													10	975	---	---	---	---						C	150121710	-	C	150121709	7	5	25	1	0	1	1	0	0	0	0	0	4332	30	2	0	1051	0	DCTN4	5	150121709	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	1731845	150121709	30793551	47	23380											
BTNL8	79908	broad.mit.edu	37	chr5	180374632	180374633	+	Frame_Shift_Del	DEL	GA	GA	-													ctccaaattccagtgtaagcGagagagagaagcatgggccg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:180374632_180374633delGA	ENST00000231229.4	+	4	1028_1029	c.794_795delGA	c.(793-795)cfs	p.R265fs	BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000511704.1_Intron	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	265						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)			CAGTGTAAGCGAGAGAGAGAAG	0.495													8	1464	---	---	---	---						-	180374633	GA	-	180374632	7	5	25	1	0	1	0	1	0	0	0	0	1570	1058	37	0	834	0	BTNL8	5	180374632	Frame_Shift_Del	DEL	GA	TCGA-IB-8126-01A-11D-2396-08	30252923	180374632	540628	48	23381											
JARID2	3720	broad.mit.edu	37	chr6	15501164	15501164	+	Frame_Shift_Del	DEL	T	T	-													gtgagctcgacctggcctgcTttttccggctgattaatgag							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:15501164delT	ENST00000341776.2	+	8	2216	c.1972delT	c.(1972-1974)ttfs	p.F659fs	JARID2_ENST00000397311.3_Frame_Shift_Del_p.F487fs|JARID2_ENST00000541660.1_Frame_Shift_Del_p.F621fs	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	659	ARID.				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)				CCTGGCCTGCTTTTTCCGGCT	0.517													8	1009	---	---	---	---						-	15501164	T	-	15501164	7	5	25	1	0	1	0	1	0	0	0	0	7989	1609	56	0	2002	0	JARID2	6	15501164	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08		15501164	155613903	49	23382											
HIST1H1A	3024	broad.mit.edu	37	chr6	26017448	26017448	+	Frame_Shift_Del	DEL	T	T	-													ttgggctttacagttttgggTttttttggattcttggagga							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:26017448delT	ENST00000244573.3	-	1	592	c.513delA	c.(511-513)aafs	p.K171fs		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	171					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CAGTTTTGGGTTTTTTTGGAT	0.483													7	984	---	---	---	---						-	26017448	T	-	26017448	7	5	25	1	0	1	0	1	0	0	0	0	7163	1722	60	0	138	0	HIST1H1A	6	26017448	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08	10516284	26017448	145097619	50	23383											
GABBR1	0	broad.mit.edu	37	chr6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-													tcataagcaaggaagattccCagcagcagcagcagcccctt							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)del	p.L783del	GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					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.L783M(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)	GGAAGATTCCCAGCAGCAGCAGC	0.512													7	415	---	---	---	---						-	29573438	CAG	-	29573436	7	5	25	1	0	1	0	1	0	0	0	0	6190	581	21	0	552	0	GABBR1	6	29573436	In_Frame_Del	DEL	CAG	TCGA-IB-8126-01A-11D-2396-08	3555988	29573436	141541631	51	23384											
FKBPL	63943	broad.mit.edu	37	chr6	32097086	32097086	+	Frame_Shift_Del	DEL	C	C	-													caagcatttctctatgagctCcccccaagtttcctccctcc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:32097086delC	ENST00000375156.3	-	2	742	c.472delG	c.(472-474)agfs	p.E158fs		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	158					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										TCTATGAGCTCCCCCCAAGTT	0.587													10	1958	---	---	---	---						-	32097086	C	-	32097086	7	5	25	1	0	1	0	1	0	0	0	0	5949	864	30	0	581	0	FKBPL	6	32097086	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	2523650	32097086	139017981	52	23385											
HLA-DRB1	3123	broad.mit.edu	37	chr6	32557568	32557569	+	Translation_Start_Site	INS	-	-	AT													gagaagcaggcaagtctcacINStcagggagaactatgaaccc					rs17204758		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:32557568_32557569insAT	ENST00000360004.5	-	0	56_57					NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCAAGTCTCACTCAGGGAGAAC	0.54										Multiple Myeloma(14;0.17)			8	90	---	---	---	---						AT	32557569	-	AT	32557568	6	5	25	1	0	1	1	0	0	0	0	0	7249	580	20	0		0	HLA-DRB1	6	32557568	Translation_Start_Site	INS	-	TCGA-IB-8126-01A-11D-2396-08	460482	32557568	138557499	53	23386											
AARS2	57505	broad.mit.edu	37	chr6	44269188	44269189	+	Frame_Shift_Ins	INS	-	-	T													ccgctccagcagctcctgagINSttttctttgcagcctatggg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:44269188_44269189insT	ENST00000244571.4	-	20	2613_2614	c.2611_2612insA	c.(2611-2613)tcafs	p.S871fs	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	871					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)	CAGCTCCTGAGTTTTCTTTGCA	0.584													7	834	---	---	---	---						T	44269189	-	T	44269188	7	5	25	1	0	1	1	0	0	0	0	0	20	1029	36	0	357	0	AARS2	6	44269188	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	11711620	44269188	126845879	54	23387											
RUNX2	860	broad.mit.edu	37	chr6	45390446	45390448	+	In_Frame_Del	DEL	CAG	CAG	-													agcaacagcagcagcagcaaCagcagcagcagcagcagcaa							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:45390446_45390448delCAG	ENST00000371438.1	+	2	533_535	c.175_177delCAG	c.(175-177)del	p.Q71del	RUNX2_ENST00000371432.3_In_Frame_Del_p.Q57del|RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del|RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000352853.5_In_Frame_Del_p.Q139del|RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000465038.2_In_Frame_Del_p.Q71del|RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				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						gcagcagcaacagcagcagcagc	0.729													13	295	---	---	---	---						-	45390448	CAG	-	45390446	7	5	25	1	0	1	0	1	0	0	0	0	13800	479	17	0	197	0	RUNX2	6	45390446	In_Frame_Del	DEL	CAG	TCGA-IB-8126-01A-11D-2396-08	1121258	45390446	125724621	55	23388											
TRAM2	9697	broad.mit.edu	37	chr6	52370505	52370506	+	Frame_Shift_Ins	INS	-	-	G													aagggtgaggatgaagaggcINSgggtaaccccaaaaacagca							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:52370505_52370506insG	ENST00000182527.3	-	9	765_766	c.766_767insC	c.(766-768)cctfs	p.P256fs	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	256	TLC.				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding	p.R256L(1)		endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					GATGAAGAGGCGGGTAACCCCA	0.535													9	484	---	---	---	---						G	52370506	-	G	52370505	7	5	25	1	0	1	1	0	0	0	0	0	16514	768	27	0	357	0	TRAM2	6	52370505	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	6980059	52370505	118744562	56	23389											
HCRTR2	3062	broad.mit.edu	37	chr6	55039411	55039411	+	Frame_Shift_Del	DEL	C	C	-													cggcaccaaattggaggactCccccccttgtcgcaactggt					rs76774128		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:55039411delC	ENST00000370862.3	+	1	362	c.26delC	c.(25-27)tcfs	p.S9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		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)			TTGGAGGACTCCCCCCCTTGT	0.567													9	820	---	---	---	---						-	55039411	C	-	55039411	7	5	25	1	0	1	0	1	0	0	0	0	7043	855	30	0	28	0	HCRTR2	6	55039411	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	2668906	55039411	116075656	57	23390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	937					0	0	0.02938	0	0	A	76022448	G	A	76022448	3	1	25	1	0	0	0	0	1	0	0	0	5927	1144	40	1	549	1	FILIP1	6	76022448	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	20983037	76022448	95092619	58	23391											
SYNCRIP	10492	broad.mit.edu	37	chr6	86332353	86332354	+	Frame_Shift_Ins	INS	-	-	T													caagaaagcaaaagcctctgINSttttttttcttgtcatccgg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:86332353_86332354insT	ENST00000355238.6	-	8	1060_1061	c.854_855insA	c.(853-855)aagfs	p.K285fs	SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs	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	285	RRM 2.				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)		AAAAGCCTCTGTTTTTTTTCTT	0.411													8	715	---	---	---	---						T	86332354	-	T	86332353	7	5	25	1	0	1	1	0	0	0	0	0	15501	1368	48	0	1078	0	SYNCRIP	6	86332353	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	10309905	86332353	84782714	59	23392											
MAP3K7	6885	broad.mit.edu	37	chr6	91296568	91296570	+	In_Frame_Del	DEL	GAG	GAG	-													tcatctcaccggccgaagacGaggaggaggaggaggcggca							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:91296568_91296570delGAG	ENST00000369329.3	-	1	194_196	c.33_35delCTC	c.(31-36)tcg>tc	p.SS13del	MAP3K7_ENST00000369325.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369327.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369332.3_In_Frame_Del_p.SS13del	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	13	Poly-Ser.				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)		GGCCGAAGACGAGGAGGAGGAGG	0.655													7	170	---	---	---	---						-	91296570	GAG	-	91296568	7	5	25	1	0	1	0	1	0	0	0	0	9305	1059	37	0	1853	0	MAP3K7	6	91296568	In_Frame_Del	DEL	GAG	TCGA-IB-8126-01A-11D-2396-08	4964215	91296568	79818499	60	23393											
NCOA7	135112	broad.mit.edu	37	chr6	126176317	126176317	+	Frame_Shift_Del	DEL	A	A	-													aggaatatatgactgatgagAaaaaaaagagaaaaagtaat							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:126176317delA	ENST00000368357.3	+	4	554	c.202delA	c.(202-204)aafs	p.K70fs	NCOA7_ENST00000487635.1_3'UTR|NCOA7_ENST00000392477.2_Frame_Shift_Del_p.K70fs|NCOA7_ENST00000229634.9_Intron	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	70					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GACTGATGAGAAAAAAAAGAG	0.358													8	1157	---	---	---	---						-	126176317	A	-	126176317	7	5	25	1	0	1	0	1	0	0	0	0	10281	247	9	0	208	0	NCOA7	6	126176317	Frame_Shift_Del	DEL	A	TCGA-IB-8126-01A-11D-2396-08	34879749	126176317	44938750	61	23394											
ARHGAP18	93663	broad.mit.edu	37	chr6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T													caggaatctggtactgtttgINSttttttttcctcaaggtctg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aaafs	p.K163fs		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	163					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)		GGTACTGTTTGTTTTTTTTCCT	0.421													20	937	---	---	---	---						T	129959603	-	T	129959602	7	5	25	1	0	1	1	0	0	0	0	0	865	1368	48	0	1554	0	ARHGAP18	6	129959602	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	3783285	129959602	41155465	62	23395											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000265368.4_Missense_Mutation_p.S878R|SYNE1_ENST00000367248.3_Missense_Mutation_p.S868R|SYNE1_ENST00000423061.1_Missense_Mutation_p.S885R|SYNE1_ENST00000341594.5_Missense_Mutation_p.S930R|SYNE1_ENST00000448038.1_Missense_Mutation_p.S885R|SYNE1_ENST00000367253.4_Missense_Mutation_p.S878R|SYNE1_ENST00000413186.2_Missense_Mutation_p.S878R|SYNE1_ENST00000495090.2_Missense_Mutation_p.S445R	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)			6	380					0	0	0.02938	0	0	G	152777116	T	G	152777116	3	3	25	1	0	0	0	0	1	0	0	0	15502	1609	56	3	24330	3	SYNE1	6	152777116	Missense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08	22817514	152777116	18337951	63	23396											
PHF14	9678	broad.mit.edu	37	chr7	11075380	11075381	+	Frame_Shift_Del	DEL	AG	AG	-													tattgtaaaatgtctttgcaAgagagagagaagcaactatc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:11075380_11075381delAG	ENST00000403050.3	+	8	2021_2022	c.1569_1570delAG	c.(1567-1572)caagfs	p.QE523fs	PHF14_ENST00000445996.2_Frame_Shift_Del_p.QE238fs	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	523							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGTCTTTGCAAGAGAGAGAGAA	0.376													7	1130	---	---	---	---						-	11075381	AG	-	11075380	7	5	25	1	0	1	0	1	0	0	0	0	11873	69	3	0	1599	0	PHF14	7	11075380	Frame_Shift_Del	DEL	AG	TCGA-IB-8126-01A-11D-2396-08		11075380	148063283	64	23397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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			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)					15	29					0	0	0.144211	0	0	G	44112788	T	G	44112788	3	3	25	1	0	0	0	0	1	0	0	0	12254	1711	59	3		3	POLM	7	44112788	Missense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08	33037408	44112788	115025875	65	23398											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	201					0	0	0.02938	0	0	A	55872990	G	A	55872990	2	1	25	1	0	0	0	0	0	0	0	1	14117	1277	45	2		2	SEPT14	7	55872990	Silent	SNP	G	TCGA-IB-8126-01A-11D-2396-08	11760202	55872990	103265673	66	23399											
ZAN	7455	broad.mit.edu	37	chr7	100350592	100350592	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccatctccccagaaaaacTcaccatccccacagaaaaac	2	18	2	2	rs112032841		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:100350592T>C	ENST00000542585.1	+	0	3012				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_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)			CCAGAAAAACTCACCATCCCC	0.512													19	1026					0	0	0.0918	0	0	C	100350592	T	C	100350592	1	2	25	0	1	0	0	0	0	0	0	0	17573	1551	54	3		3	ZAN	7	100350592	RNA	SNP	T	TCGA-IB-8126-01A-11D-2396-08	44477602	100350592	58788071	67	23400											
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	6	14	0	0	rs149757187		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:114269973A>G	ENST00000393500.3	+	11	1105	c.285A>G	c.(283-285)caA>caG	p.Q95Q	FOXP2_ENST00000408937.3_Silent_p.Q195Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q			O15409	FOXP2_HUMAN	forkhead box P2	170	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	p.Q195Q(1)		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						agcagcagcaacaacaacaac	0.502													7	223					0	0	0.02938	0	0	G	114269973	A	G	114269973	2	3	25	1	0	0	0	0	0	0	0	1	6061	40	2	3		3	FOXP2	7	114269973	Silent	SNP	A	TCGA-IB-8126-01A-11D-2396-08	13919381	114269973	44868690	68	23401											
ZNF800	168850	broad.mit.edu	37	chr7	127014205	127014205	+	Frame_Shift_Del	DEL	T	T	-													ttggcagtattattagggccTttttctcttttagagtttgt							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:127014205delT	ENST00000393313.1	-	5	1776	c.1185delA	c.(1183-1185)aafs	p.K395fs	ZNF800_ENST00000393312.1_Frame_Shift_Del_p.K395fs|ZNF800_ENST00000265827.3_Frame_Shift_Del_p.K395fs			Q2TB10	ZN800_HUMAN	zinc finger protein 800	395					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						TATTAGGGCCTTTTTCTCTTT	0.358													7	493	---	---	---	---						-	127014205	T	-	127014205	7	5	25	1	0	1	0	1	0	0	0	0	18218	1606	56	0	817	0	ZNF800	7	127014205	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08	12744232	127014205	32124458	69	23402											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	964					0.0293803	0.0301305	0.02938	1	0	T	144380019	G	T	144380019	3	4	25	1	0	0	0	0	1	0	0	0	16465	1103	39	4	587	4	TPK1	7	144380019	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	17365814	144380019	14758644	70	23403											
RP1L1	94137	broad.mit.edu	37	chr8	10465022	10465022	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcctctggggcctctaTaccttctgactctggctggg	11	13	5	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:10465022T>C	ENST00000382483.3	-	4	6809	c.6586A>G	c.(6586-6588)Ata>Gta	p.I2196V		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2196					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)		GGGGCCTCTATACCTTCTGAC	0.612													16	1668					0	0	0.175082	0	0	C	10465022	T	C	10465022	3	2	25	1	0	0	0	0	1	0	0	0	13585	1406	49	3	620	3	RP1L1	8	10465022	Missense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08		10465022	135899000	71	23404											
UNC5D	137970	broad.mit.edu	37	chr8	35608248	35608248	+	Frame_Shift_Del	DEL	T	T	-													gaagcaactgaaggtggcggTttttggctgcatgtcctgta							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:35608248delT	ENST00000287272.2	+	12	1897	c.1877delT	c.(1876-1878)gtfs	p.V626fs	UNC5D_ENST00000420357.1_Frame_Shift_Del_p.V628fs|UNC5D_ENST00000404895.2_Frame_Shift_Del_p.V695fs|UNC5D_ENST00000449677.1_Frame_Shift_Del_p.V271fs|UNC5D_ENST00000416672.1_Frame_Shift_Del_p.V700fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.V690fs			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	695	ZU5.				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)		AAGGTGGCGGTTTTTGGCTGC	0.488													8	832	---	---	---	---						-	35608248	T	-	35608248	7	5	25	1	0	1	0	1	0	0	0	0	17055	1725	60	0	2134	0	UNC5D	8	35608248	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08	25143226	35608248	110755774	72	23405											
GPR124	25960	broad.mit.edu	37	chr8	37693141	37693141	+	Frame_Shift_Del	DEL	C	C	-													cccttccggctgccctggctCccccggtgcccccagactgc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:37693141delC	ENST00000412232.2	+	13	1916	c.1903delC	c.(1903-1905)ccfs	p.P636fs	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	636					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)			TGCCCTGGCTCCCCCGGTGCC	0.662													7	1760	---	---	---	---						-	37693141	C	-	37693141	7	5	25	1	0	1	0	1	0	0	0	0	6678	855	30	0	1932	0	GPR124	8	37693141	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	2084893	37693141	108670881	73	23406											
WHSC1L1	54904	broad.mit.edu	37	chr8	38205092	38205092	+	Frame_Shift_Del	DEL	T	T	-													tgatgagtcatgcttgttgcTttttttcctcttttcttttc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:38205092delT	ENST00000317025.8	-	2	1115	c.598delA	c.(598-600)gcfs	p.S200fs	WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	200					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)			TGCTTGTTGCTTTTTTTCCTC	0.378			T	NUP98	AML								7	849	---	---	---	---						-	38205092	T	-	38205092	7	5	25	1	0	1	0	1	0	0	0	0	17423	1609	56	0	3894	0	WHSC1L1	8	38205092	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08	511951	38205092	108158930	74	23407											
ADAM9	8754	broad.mit.edu	37	chr8	38880792	38880793	+	Frame_Shift_Ins	INS	-	-	G													ggggaacttcgtgcagtggcINSgggaaaagtttcttatcaca							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:38880792_38880793insG	ENST00000487273.2	+	9	940_941	c.862_863insG	c.(862-864)ggafs	p.G288fs		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	288	Peptidase M12B.				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)			CGTGCAGTGGCGGGAAAAGTTT	0.396													8	440	---	---	---	---						G	38880793	-	G	38880792	7	5	25	1	0	1	1	0	0	0	0	0	252	759	27	0	896	0	ADAM9	8	38880792	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	675700	38880792	107483230	75	23408											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:56436505G>A	ENST00000327381.5	+	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	558						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													5	330					0	0	0.014758	0	0	A	56436505	G	A	56436505	3	1	25	1	0	0	0	0	1	0	0	0	17493	1058	37	1	1682	1	XKR4	8	56436505	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	17555713	56436505	89927517	76	23409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	203					0	0	0.09319	0	0	T	143603440	C	T	143603440	3	4	25	1	0	0	0	0	1	0	0	0	1296	652	23	1	3217	1	BAI1	8	143603440	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	87166935	143603440	2760582	77	23410											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	1758					3.09899e-07	3.33418e-07	0.047766	1	0	T	34971580	G	T	34971580	3	4	25	1	0	0	0	0	1	0	0	0	8249	1165	41	2	287	2	KIAA1045	9	34971580	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08		34971580	106241851	78	23411											
RUSC2	9853	broad.mit.edu	37	chr9	35555384	35555384	+	Frame_Shift_Del	DEL	C	C	-													atcgcccctgggcagctactCccccatccggagtgttggcc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:35555384delC	ENST00000455600.1	+	3	2911	c.2342delC	c.(2341-2343)tcfs	p.S781fs		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	781						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)			GGCAGCTACTCCCCCATCCGG	0.662													9	2177	---	---	---	---						-	35555384	C	-	35555384	7	5	25	1	0	1	0	1	0	0	0	0	13803	855	30	0	2348	0	RUSC2	9	35555384	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	583804	35555384	105658047	79	23412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:73151119T>C	ENST00000377110.2	-	25	5117	c.4874A>G	c.(4873-4875)aAc>aGc	p.N1625S	TRPM3_ENST00000358082.3_Missense_Mutation_p.N1487S|TRPM3_ENST00000357533.2_Missense_Mutation_p.N1629S|TRPM3_ENST00000377105.1_Missense_Mutation_p.N1484S|TRPM3_ENST00000396285.1_Missense_Mutation_p.N1484S|TRPM3_ENST00000396292.4_Missense_Mutation_p.N1497S|TRPM3_ENST00000360823.2_Missense_Mutation_p.N1487S|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000408909.2_Missense_Mutation_p.N1484S|TRPM3_ENST00000377106.1_Missense_Mutation_p.N1497S|TRPM3_ENST00000423814.3_Missense_Mutation_p.N1652S|TRPM3_ENST00000396280.5_Missense_Mutation_p.N1474S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1650						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													97	2223					0	0	0.139131	0	0	C	73151119	T	C	73151119	3	2	25	1	0	0	0	0	1	0	0	0	16648	1725	60	3	253	3	TRPM3	9	73151119	Missense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08	37595735	73151119	68062312	80	23413											
NUP188	23511	broad.mit.edu	37	chr9	131750436	131750436	+	Frame_Shift_Del	DEL	C	C	-													acctccttctaatgtggtgtCccccctggaacaggctctct							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:131750436delC	ENST00000372577.2	+	24	2525	c.2504delC	c.(2503-2505)tcfs	p.S835fs		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	835					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						AATGTGGTGTCCCCCCTGGAA	0.473													8	1058	---	---	---	---						-	131750436	C	-	131750436	7	5	25	1	0	1	0	1	0	0	0	0	10806	855	30	0	2598	0	NUP188	9	131750436	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	58599317	131750436	9462995	81	23414											
CRAT	1384	broad.mit.edu	37	chr9	131864814	131864814	+	Frame_Shift_Del	DEL	C	C	-													tggttcatgcacagtggcttCccccccaggtactccacggg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:131864814delC	ENST00000318080.2	-	5	789	c.495delG	c.(493-495)ggfs	p.G165fs	CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	165					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	ACAGTGGCTTCCCCCCCAGGT	0.607													7	1839	---	---	---	---						-	131864814	C	-	131864814	7	5	25	1	0	1	0	1	0	0	0	0	3870	842	30	0	1425	0	CRAT	9	131864814	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	114378	131864814	9348617	82	23415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354440.2_Missense_Mutation_p.A379T|CELF2_ENST00000416382.2_Missense_Mutation_p.A397T|CELF2_ENST00000417956.2_Missense_Mutation_p.A377T|CELF2_ENST00000354897.3_Missense_Mutation_p.A391T|CELF2_ENST00000450189.1_Missense_Mutation_p.A410T|CELF2_ENST00000427450.1_Missense_Mutation_p.A379T|CELF2_ENST00000537122.1_Missense_Mutation_p.A292T|CELF2_ENST00000542579.1_Missense_Mutation_p.A410T|CELF2_ENST00000315874.3_Missense_Mutation_p.A379T|CELF2_ENST00000399850.3_Missense_Mutation_p.A379T	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													11	288					0	0	0.09319	0	0	A	11363283	G	A	11363283	3	1	25	1	0	0	0	0	1	0	0	0	3238	1087	38	1	1339	1	CELF2	10	11363283	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08		11363283	124171464	83	23416											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000455728.2_Silent_p.L16L|CHAT_ENST00000337653.2_Silent_p.L134L|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000395559.2_Silent_p.L16L|CHAT_ENST00000339797.1_Silent_p.L16L|CHAT_ENST00000351556.3_Silent_p.L16L	NM_001142933.1|NM_001142934.1	NP_001136405.1|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													6	137					0	0	0.047766	0	0	T	50827783	C	T	50827783	2	4	25	1	0	0	0	0	0	0	0	1	3335	564	20	2		2	CHAT	10	50827783	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08	39464500	50827783	84706964	84	23417											
ZMIZ1	57178	broad.mit.edu	37	chr10	81056295	81056295	+	Frame_Shift_Del	DEL	C	C	-													ccagccaggccagtacccagCccccaaccccccgaggccac							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:81056295delC	ENST00000334512.5	+	13	1870	c.1298delC	c.(1297-1299)gcfs	p.A433fs	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	433	Pro-rich.				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)			CAGTACCCAGCCCCCAACCCC	0.637													7	968	---	---	---	---						-	81056295	C	-	81056295	7	5	25	1	0	1	0	1	0	0	0	0	17754	739	26	0	1332	0	ZMIZ1	10	81056295	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	30228512	81056295	54478452	85	23418											
FAS	355	broad.mit.edu	37	chr10	90768708	90768708	+	Frame_Shift_Del	DEL	T	T	-													agtgcagatgtaaaccaaacTttttttgtaactctactgta							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:90768708delT	ENST00000355740.2	+	4	617	c.397delT	c.(397-399)ttfs	p.F134fs	FAS_ENST00000313771.5_3'UTR|FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs|FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000355279.2_Frame_Shift_Del_p.F134fs	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	134					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		TAAACCAAACTTTTTTTGTAA	0.368													10	2839	---	---	---	---						-	90768708	T	-	90768708	7	5	25	1	0	1	0	1	0	0	0	0	5714	1609	56	0	411	0	FAS	10	90768708	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08	9712413	90768708	44766039	86	23419											
IFIT1B	439996	broad.mit.edu	37	chr10	91143683	91143683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaggcattttctctgcacGtcctaaaacgagctgtcagg	9	10	2	0	rs147758253	by1000genomes	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:91143683G>A	ENST00000371809.3	+	2	693	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	205							binding			endometrium(2)|large_intestine(3)|lung(8)	13						TTCTCTGCACGTCCTAAAACG	0.448													11	1748					0	0	0.069234	0	0	A	91143683	G	A	91143683	3	1	25	1	0	0	0	0	1	0	0	0	7566	1145	40	1	619	1	IFIT1B	10	91143683	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	374975	91143683	44391064	87	23420											
PDZD7	79955	broad.mit.edu	37	chr10	102789811	102789811	+	Frame_Shift_Del	DEL	G	G	-													cgatgaggctcggattccgcGggggggcccgttcagcagcc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:102789811delG	ENST00000370215.3	-	2	391	c.166delC	c.(166-168)gcfs	p.R56fs	PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	56						cilium|nucleus	protein binding	p.R56C(1)		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)		CGGATTCCGCGGGGGGGCCCG	0.667													9	686	---	---	---	---						-	102789811	G	-	102789811	7	5	25	1	0	1	0	1	0	0	0	0	11751	1116	39	0	1423	0	PDZD7	10	102789811	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	11646128	102789811	32744936	88	23421											
TACC2	10579	broad.mit.edu	37	chr10	123970380	123970380	+	Frame_Shift_Del	DEL	C	C	-													caccaagaaacccacagagaCccccccagtgaaggagacgc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:123970380delC	ENST00000369005.1	+	9	6780	c.6440delC	c.(6439-6441)acfs	p.T2147fs	TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000360561.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000260733.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000369004.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000513429.1_Frame_Shift_Del_p.T293fs|TACC2_ENST00000334433.3_Frame_Shift_Del_p.T2147fs|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000358010.1_Frame_Shift_Del_p.T293fs|TACC2_ENST00000515603.1_Frame_Shift_Del_p.T2102fs|TACC2_ENST00000453444.2_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000515273.1_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000368999.1_Frame_Shift_Del_p.T225fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2147						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)				CCCACAGAGACCCCCCCAGTG	0.522													8	1370	---	---	---	---						-	123970380	C	-	123970380	7	5	25	1	0	1	0	1	0	0	0	0	15559	507	18	0	6542	0	TACC2	10	123970380	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	21180569	123970380	11564367	89	23422											
HMX2	3167	broad.mit.edu	37	chr10	124909413	124909414	+	Frame_Shift_Ins	INS	-	-	C													gtaaagacttggttccagaaINSccgccgcaacaagtggaagc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:124909413_124909414insC	ENST00000339992.3	+	2	853_854	c.596_597insC	c.(595-597)acgfs	p.T199fs		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	199					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)		TGGTTCCAGAACCGCCGCAACA	0.649													9	187	---	---	---	---						C	124909414	-	C	124909413	7	5	25	1	0	1	1	0	0	0	0	0	7288	43	2	0	602	0	HMX2	10	124909413	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	939033	124909413	10625334	90	23423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368571.2_Missense_Mutation_p.G140R|KNDC1_ENST00000368572.2_Missense_Mutation_p.G205R			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													13	304					0	0	0.09319	0	0	A	134997481	G	A	134997481	3	1	25	1	0	0	0	0	1	0	0	0	8469	1117	39	1	631	1	KNDC1	10	134997481	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	10088068	134997481	537266	91	23424											
CDHR5	53841	broad.mit.edu	37	chr11	618807	618807	+	Frame_Shift_Del	DEL	G	G	-													gaggtgctggttcccatactGgggggcatcggctgagaggt							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:618807delG	ENST00000358353.3	-	14	2074	c.1752delC	c.(1750-1752)ccfs	p.P584fs	CDHR5_ENST00000397542.2_Frame_Shift_Del_p.P584fs|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	584	4 X 31 AA approximate tandem repeats.				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						TTCCCATACTGGGGGGCATCG	0.677													8	940	---	---	---	---						-	618807	G	-	618807	7	5	25	1	0	1	0	1	0	0	0	0	3144	1335	47	0	797	0	CDHR5	11	618807	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08		618807	134387709	92	23425											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606166	1606166	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aagagccacagccccccttgGagcccccacaggagccacaa	9	18	0	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:1606166G>C	ENST00000382171.2	-	1	347	c.314C>G	c.(313-315)tCc>tGc	p.S105C	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	105	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)		GCCCCCCTTGGAGCCCCCACA	0.672													13	383					0	0	0.144211	0	0	C	1606166	G	C	1606166	3	2	25	1	0	0	0	0	1	0	0	0	8598	1174	41	5	526	5	KRTAP5-1	11	1606166	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	987359	1606166	133400350	93	23426											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606186	1606186	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcccccacaggagccacaAccccccttggatcccccaca	7	21	0	0	rs137999496		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:1606186A>G	ENST00000382171.2	-	1	327	c.294T>C	c.(292-294)ggT>ggC	p.G98G	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	98	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)		AGGAGCCACAACCCCCCTTGG	0.677													25	385					0	0	0.139131	0	0	G	1606186	A	G	1606186	2	3	25	1	0	0	0	0	0	0	0	1	8598	30	2	3		3	KRTAP5-1	11	1606186	Silent	SNP	A	TCGA-IB-8126-01A-11D-2396-08	20	1606186	133400330	94	23427											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	574					0	0	0.014758	0	0	G	9225319	A	G	9225319	2	3	25	1	0	0	0	0	0	0	0	1	4464	233	9	3		3	DENND5A	11	9225319	Silent	SNP	A	TCGA-IB-8126-01A-11D-2396-08	7619133	9225319	125781197	95	23428											
MICALCL	84953	broad.mit.edu	37	chr11	12316344	12316345	+	In_Frame_Ins	INS	-	-	CTC													cacctccctgcgccaggcagINSctcctcctcctcctcctcct					rs3841216		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:12316344_12316345insCTC	ENST00000256186.2	+	3	1657_1658	c.1366_1367insCTC	c.(1366-1368)tcc>CTCtcc	p.455_456insL		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	455					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)		GCGCCAGGCAGctcctcctcct	0.604													13	186	---	---	---	---						CTC	12316345	-	CTC	12316344	7	5	25	1	0	1	1	0	0	0	0	0	9620	971	34	0	1372	0	MICALCL	11	12316344	In_Frame_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	3091025	12316344	122690172	96	23429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	494					1.05317e-09	1.14331e-09	0.11911	1	0	T	55587727	G	T	55587727	4	4	25	1	0	0	0	0	0	1	0	0	11204	1291	45	2	624	2	OR5D18	11	55587727	Nonsense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	43271383	55587727	79418789	97	23430											
ADRBK1	156	broad.mit.edu	37	chr11	67052434	67052435	+	Frame_Shift_Ins	INS	-	-	G													ccccaaccgcctcgagtggcINSggggcgagggcgaggccccg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:67052434_67052435insG	ENST00000308595.5	+	19	2061_2062	c.1771_1772insG	c.(1771-1773)gggfs	p.G591fs	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	591	PH.				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)	CCTCGAGTGGCGGGGCGAGGGC	0.688													11	189	---	---	---	---						G	67052435	-	G	67052434	7	5	25	1	0	1	1	0	0	0	0	0	342	759	27	0	1845	0	ADRBK1	11	67052434	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	11464707	67052434	67954082	98	23431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429686.1_Nonsense_Mutation_p.R150*|ARAP1_ENST00000426523.1_Nonsense_Mutation_p.R150*|ARAP1_ENST00000393605.3_Nonsense_Mutation_p.R155*|ARAP1_ENST00000393609.3_Nonsense_Mutation_p.R395*|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.R150*|ARAP1_ENST00000455638.2_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													31	626					0	0	0.153744	0	0	A	72422096	G	A	72422096	4	1	25	1	0	0	0	0	0	1	0	0	835	1124	39	1	3277	1	ARAP1	11	72422096	Nonsense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	5369662	72422096	62584420	99	23432											
MMP12	4321	broad.mit.edu	37	chr11	102743846	102743847	+	RNA	INS	-	-	A													atttttctaagtatctctggINSaaaaaaaaatacattcagca							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:102743846_102743847insA	ENST00000532855.1	-	0	199							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)	AGTATCTCTGGAAAAAAAAATA	0.332													7	112	---	---	---	---						A	102743847	-	A	102743846	6	5	25	0	1	1	1	0	0	0	0	0	9699	1189	41	0		0	MMP12	11	102743846	RNA	INS	-	TCGA-IB-8126-01A-11D-2396-08	30321750	102743846	32262670	100	23433											
PRDM10	56980	broad.mit.edu	37	chr11	129827738	129827738	+	Frame_Shift_Del	DEL	G	G	-													ccgtgtacaccacctgctgtGgggggcgaacctggtcatcg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:129827738delG	ENST00000358825.5	-	3	368	c.137delC	c.(136-138)cafs	p.P46fs	PRDM10_ENST00000360871.3_Frame_Shift_Del_p.P46fs|PRDM10_ENST00000528746.1_Frame_Shift_Del_p.P46fs	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	46					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)		CACCTGCTGTGGGGGGCGAAC	0.547													7	1474	---	---	---	---						-	129827738	G	-	129827738	7	5	25	1	0	1	0	1	0	0	0	0	12503	1348	47	0	3461	0	PRDM10	11	129827738	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	27083892	129827738	5178778	101	23434											
TEAD4	7004	broad.mit.edu	37	chr12	3131163	3131163	+	Frame_Shift_Del	DEL	T	T	-													aacggggaccctccaatgccTtttttcttgtgaagttctgg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:3131163delT	ENST00000359864.2	+	10	1067	c.877delT	c.(877-879)ttfs	p.F294fs	TEAD4_ENST00000397122.2_Frame_Shift_Del_p.F165fs|TEAD4_ENST00000358409.2_Frame_Shift_Del_p.F251fs	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	294					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)			CTCCAATGCCTTTTTTCTTGT	0.542													8	847	---	---	---	---						-	3131163	T	-	3131163	7	5	25	1	0	1	0	1	0	0	0	0	15800	1609	56	0	907	0	TEAD4	12	3131163	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08		3131163	130720732	102	23435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	282					0	0	0.058154	0	0	C	8211546	A	C	8211546	2	2	25	1	0	0	0	0	0	0	0	1	2219	291	11	3		3	C3AR1	12	8211546	Silent	SNP	A	TCGA-IB-8126-01A-11D-2396-08	5080383	8211546	125640349	103	23436											
PRB3	5544	broad.mit.edu	37	chr12	11420929	11420929	+	RNA	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:11420929C>T	ENST00000381842.3	-	0	291				PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_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	0.632													12	1942					0	0	0.021553	0	0	T	11420929	C	T	11420929	1	4	25	0	1	0	0	0	0	0	0	0	12496	855	30	2		2	PRB3	12	11420929	RNA	SNP	C	TCGA-IB-8126-01A-11D-2396-08	3209383	11420929	122430966	104	23437											
RERG	85004	broad.mit.edu	37	chr12	15262412	15262412	+	Frame_Shift_Del	DEL	C	C	-													gtagaccagcacaaagccttCcccccatcgcatgtgcccct							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:15262412delC	ENST00000256953.2	-	5	568	c.232delG	c.(232-234)aafs	p.E78fs	RERG_ENST00000546331.1_Frame_Shift_Del_p.E59fs|RERG_ENST00000536465.1_Frame_Shift_Del_p.E78fs|RERG_ENST00000538313.1_Frame_Shift_Del_p.E78fs	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	78					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						ACAAAGCCTTCCCCCCATCGC	0.458													7	2284	---	---	---	---						-	15262412	C	-	15262412	7	5	25	1	0	1	0	1	0	0	0	0	13284	864	30	0	371	0	RERG	12	15262412	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	3841483	15262412	118589483	105	23438											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	250					0	0	0.038147	0	0	G	18891852	A	G	18891852	3	3	25	1	0	0	0	0	1	0	0	0	2660	43	2	3	652	3	CAPZA3	12	18891852	Missense_Mutation	SNP	A	TCGA-IB-8126-01A-11D-2396-08	3629440	18891852	114960043	106	23439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	498					0	0	0.014758	0	0	A	51065103	G	A	51065103	3	1	25	1	0	0	0	0	1	0	0	0	4556	1087	38	1	580	1	DIP2B	12	51065103	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	32173251	51065103	82786792	107	23440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	442					0.00116845	0.00120856	0.021553	1	0	T	52639299	G	T	52639299	3	4	25	1	0	0	0	0	1	0	0	0	8526	1116	39	4	1114	4	KRT7	12	52639299	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	1574196	52639299	81212596	108	23441											
ESPL1	9700	broad.mit.edu	37	chr12	53663328	53663328	+	Frame_Shift_Del	DEL	C	C	-													agcctgtcgagcggtagctgCccatcagctatttgatgcca							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:53663328delC	ENST00000257934.4	+	3	693	c.602delC	c.(601-603)gcfs	p.A201fs	ESPL1_ENST00000552462.1_Frame_Shift_Del_p.A201fs	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	201					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						GCGGTAGCTGCCCATCAGCTA	0.527													8	1990	---	---	---	---						-	53663328	C	-	53663328	7	5	25	1	0	1	0	1	0	0	0	0	5281	739	26	0	608	0	ESPL1	12	53663328	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	1024029	53663328	80188567	109	23442											
TSFM	10102	broad.mit.edu	37	chr12	58177051	58177052	+	Frame_Shift_Ins	INS	-	-	G													aagctctggagacttgtggcINSggggacctcaaacaggtgtg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:58177051_58177052insG	ENST00000454289.3	+	2	429_430	c.216_217insG	c.(214-219)gggggafs	p.GG72fs	TSFM_ENST00000540550.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000323833.8_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000550559.1_Frame_Shift_Ins_p.GG72fs|RP11-571M6.15_ENST00000471530.1_Frame_Shift_Ins_p.G87fs|TSFM_ENST00000548851.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000543727.1_Frame_Shift_Ins_p.GG72fs|RP11-571M6.15_ENST00000553083.1_3'UTR	NM_005726.5	NP_005717.3	P43897	EFTS_HUMAN	Ts translation elongation factor, mitochondrial	72					regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity			endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGACTTGTGGCGGGGACCTCAA	0.569													9	1061	---	---	---	---						G	58177052	-	G	58177051	7	5	25	1	0	1	1	0	0	0	0	0	16676	755	27	0	222	0	TSFM	12	58177051	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	4513723	58177051	75674844	110	23443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003299.1	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													11	276					0.000673444	0.000699569	0.069234	1	0	A	104327988	C	A	104327988	2	1	25	1	0	0	0	0	0	0	0	1	7446	903	32	2		2	HSP90B1	12	104327988	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08	46150937	104327988	29523907	111	23444											
RASAL1	8437	broad.mit.edu	37	chr12	113565943	113565943	+	Frame_Shift_Del	DEL	C	C	-													caggtgcaccgtgtactcctCcccccagaaggggcccaggc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:113565943delC	ENST00000546530.1	-	4	448	c.163delG	c.(163-165)agfs	p.E56fs	RASAL1_ENST00000261729.5_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000548055.1_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000446861.3_Frame_Shift_Del_p.E56fs|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)	56	C2 1.				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						GTGTACTCCTCCCCCCAGAAG	0.617													7	1787	---	---	---	---						-	113565943	C	-	113565943	7	5	25	1	0	1	0	1	0	0	0	0	13115	864	30	0	2327	0	RASAL1	12	113565943	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	9237955	113565943	20285952	112	23445											
CCDC60	160777	broad.mit.edu	37	chr12	119942961	119942961	+	Frame_Shift_Del	DEL	G	G	-													tcagtctgagtcgggccagtGgggggtcctctccccagagc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:119942961delG	ENST00000327554.2	+	7	1201	c.736delG	c.(736-738)ggfs	p.G247fs	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	247										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)		TCGGGCCAGTGGGGGGTCCTC	0.562													7	996	---	---	---	---						-	119942961	G	-	119942961	7	5	25	1	0	1	0	1	0	0	0	0	2851	1348	47	0	762	0	CCDC60	12	119942961	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	6377018	119942961	13908934	113	23446											
POP5	51367	broad.mit.edu	37	chr12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-													tctgcagcctcctcacctgaCtcctcctcctcctctaataa							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:121017154_121017156delCTC	ENST00000341039.2	-	4	323_325	c.307_309delGAG	c.(307-309)del	p.E103del	POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	153					tRNA processing		protein binding|ribonuclease P activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517													10	641	---	---	---	---						-	121017156	CTC	-	121017154	7	5	25	1	0	1	0	1	0	0	0	0	12301	564	20	0	36	0	POP5	12	121017154	In_Frame_Del	DEL	CTC	TCGA-IB-8126-01A-11D-2396-08	1074193	121017154	12834741	114	23447											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	947					0	0	0.092188	0	0	A	52439917	T	A	52439917	3	1	25	1	0	0	0	0	1	0	0	0	2863	1609	56	5	405	5	CCDC70	13	52439917	Missense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08		52439917	62729961	115	23448											
RIN3	79890	broad.mit.edu	37	chr14	93118772	93118772	+	Frame_Shift_Del	DEL	C	C	-													ccaaacaacccccagtcccgCcccccaggaaaaaacggatc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr14:93118772delC	ENST00000216487.7	+	6	1537	c.1378delC	c.(1378-1380)ccfs	p.P461fs	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	461	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)				CCCAGTCCCGCCCCCCAGGAA	0.622													8	752	---	---	---	---						-	93118772	C	-	93118772	7	5	25	1	0	1	0	1	0	0	0	0	13425	739	26	0	1400	0	RIN3	14	93118772	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08		93118772	14230768	116	23449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	235					0	0	0.09319	0	0	A	43527834	G	A	43527834	3	1	25	1	0	0	0	0	1	0	0	0	15893	1116	39	1	631	1	TGM5	15	43527834	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08		43527834	59003558	117	23450											
MESDC2	23184	broad.mit.edu	37	chr15	81281974	81281976	+	In_Frame_Del	DEL	CTT	CTT	-													tcattgtaatcgcgaatatcCttcttcttcttccggggagg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:81281974_81281976delCTT	ENST00000261758.4	-	1	243_245	c.157_159delAAG	c.(157-159)del	p.K53del		NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	53	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						CGCGAATATCCTTCTTCTTCTTC	0.655													7	430	---	---	---	---						-	81281976	CTT	-	81281974	7	5	25	1	0	1	0	1	0	0	0	0	9531	680	24	0	557	0	MESDC2	15	81281974	In_Frame_Del	DEL	CTT	TCGA-IB-8126-01A-11D-2396-08	37754140	81281974	21249418	118	23451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	296					0	0	0.021553	0	0	A	81592482	G	A	81592482	3	1	25	1	0	0	0	0	1	0	0	0	7677	1174	41	2	2865	2	IL16	15	81592482	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	310508	81592482	20938910	119	23452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330684.3_Missense_Mutation_p.R856W|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R856W|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R856W|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R699W|GRIN2A_ENST00000404927.2_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													17	813					0	0	0.175082	0	0	A	9862737	G	A	9862737	3	1	25	1	0	0	0	0	1	0	0	0	6820	1115	39	1	1836	1	GRIN2A	16	9862737	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08		9862737	80492016	120	23453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	160					0	0	0.09319	0	0	A	28331735	G	A	28331735	2	1	25	1	0	0	0	0	0	0	0	1	13913	1132	40	1		1	SBK1	16	28331735	Silent	SNP	G	TCGA-IB-8126-01A-11D-2396-08	18468998	28331735	62023018	121	23454											
SALL1	6299	broad.mit.edu	37	chr16	51175661	51175661	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgccgccgccgctgcTgctgctgctgctgctgctgc	14	18	0	0	rs139646526	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:51175661T>C	ENST00000440970.1	-	2	612	c.181A>G	c.(181-183)Agc>Ggc	p.S61G	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S158G|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	158					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)			ccgccgctgctgctgctgctg	0.632													5	251					0	0	0.02938	0	0	C	51175661	T	C	51175661	3	2	25	1	0	0	0	0	1	0	0	0	13862	1580	55	3	3510	3	SALL1	16	51175661	Missense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08	22843926	51175661	39179092	122	23455											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	502					0	0	0.049695	0	0	G	82131809	A	G	82131809	3	3	25	1	0	0	0	0	1	0	0	0	7425	43	2	3	950	3	HSD17B2	16	82131809	Missense_Mutation	SNP	A	TCGA-IB-8126-01A-11D-2396-08	30956148	82131809	8222944	123	23456											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	348					0	0	0.069234	0	0	T	88871873	C	T	88871873	3	4	25	1	0	0	0	0	1	0	0	0	3202	768	27	1	528	1	CDT1	16	88871873	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	6740064	88871873	1482880	124	23457											
INCA1	388324	broad.mit.edu	37	chr17	4892795	4892795	+	Frame_Shift_Del	DEL	C	C	-													ccctcacccgggcggggactCccccaaggccctgctgctgc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:4892795delC	ENST00000396829.2	-	7	889	c.323delG	c.(322-324)gafs	p.G108fs	INCA1_ENST00000575780.1_Frame_Shift_Del_p.G93fs|INCA1_ENST00000574617.1_Frame_Shift_Del_p.G108fs|INCA1_ENST00000576820.1_Frame_Shift_Del_p.G108fs|INCA1_ENST00000355025.3_Frame_Shift_Del_p.G93fs	NM_001167986.1	NP_001161458.1	Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein 1	108						nucleus				upper_aerodigestive_tract(1)	1						GGCGGGGACTCCCCCAAGGCC	0.572													7	1301	---	---	---	---						-	4892795	C	-	4892795	7	5	25	1	0	1	0	1	0	0	0	0	7776	855	30	0	399	0	INCA1	17	4892795	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08		4892795	76302415	125	23458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	383					0	0	0.09319	0	0	T	26946933	C	T	26946933	3	4	25	1	0	0	0	0	1	0	0	0	8196	652	23	1	1282	1	KIAA0100	17	26946933	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	22054138	26946933	54248277	126	23459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	596					0	0	0.139131	0	0	C	27613833	T	C	27613833	2	2	25	1	0	0	0	0	0	0	0	1	10797	1490	52	3		3	NUFIP2	17	27613833	Silent	SNP	T	TCGA-IB-8126-01A-11D-2396-08	666900	27613833	53581377	127	23460											
GIT1	28964	broad.mit.edu	37	chr17	27903281	27903281	+	Frame_Shift_Del	DEL	G	G	-													gcgtagtgagctcgtccccaGgggggcccccaaagggcttc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:27903281delG	ENST00000225394.3	-	14	1816	c.1568delC	c.(1567-1569)ctfs	p.P523fs	GIT1_ENST00000394869.3_Frame_Shift_Del_p.P532fs|GIT1_ENST00000581348.1_Frame_Shift_Del_p.P532fs|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Frame_Shift_Del_p.P523fs	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	523					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)		CTCGTCCCCAGGGGGGCCCCC	0.652													7	809	---	---	---	---						-	27903281	G	-	27903281	7	5	25	1	0	1	0	1	0	0	0	0	6438	1000	35	0	745	0	GIT1	17	27903281	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	289448	27903281	53291929	128	23461											
GAS2L2	246176	broad.mit.edu	37	chr17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-													gctctttctcctcctttcctTcctcctcctcctcacctact							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaa>ga	p.EE840del	GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					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)		ctcctttccttcctcctcctcct	0.616													9	344	---	---	---	---						-	34071996	TCC	-	34071994	7	5	25	1	0	1	0	1	0	0	0	0	6287	1783	62	0	124	0	GAS2L2	17	34071994	In_Frame_Del	DEL	TCC	TCGA-IB-8126-01A-11D-2396-08	6168713	34071994	47123216	129	23462											
CDK12	51755	broad.mit.edu	37	chr17	37687472	37687472	+	Frame_Shift_Del	DEL	G	G	-													ctcaggagcaggccttcactGggggggcccaactcagtctt							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:37687472delG	ENST00000447079.4	+	14	4409	c.4376delG	c.(4375-4377)tgfs	p.W1459fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.W1450fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1459					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						GGCCTTCACTGGGGGGGCCCA	0.562			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			7	562	---	---	---	---						-	37687472	G	-	37687472	7	5	25	1	0	1	0	1	0	0	0	0	3150	1357	47	0	4430	0	CDK12	17	37687472	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	3615478	37687472	43507738	130	23463											
CCDC103	388389	broad.mit.edu	37	chr17	42980014	42980015	+	Frame_Shift_Del	DEL	AG	AG	-													ctaagcctgctgagccgggcAgagagagagagctgcaaggg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:42980014_42980015delAG	ENST00000417826.2	+	4	653_654	c.558_559delAG	c.(556-561)gcagfs	p.AE186fs	FAM187A_ENST00000331733.4_5'UTR|FAM187A_ENST00000412523.2_Intron|CCDC103_ENST00000410006.2_Frame_Shift_Del_p.AE186fs	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	186								p.E187K(1)		endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				TGAGCCGGGCAGAGAGAGAGAG	0.644													8	347	---	---	---	---						-	42980015	AG	-	42980014	7	5	25	1	0	1	0	1	0	0	0	0	2756	175	7	0	568	0	CCDC103	17	42980014	Frame_Shift_Del	DEL	AG	TCGA-IB-8126-01A-11D-2396-08	5292542	42980014	38215196	131	23464											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Missense_Mutation_p.Q150L	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													20	434					0	0	0.043863	0	0	A	61949520	T	A	61949520	3	1	25	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	18969506	61949520	19245690	132	23465											
TEX2	55852	broad.mit.edu	37	chr17	62291438	62291440	+	In_Frame_Del	DEL	TCC	TCC	-													ccctgaactcctcctcctctTcctcctcctcctcgccggat							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:62291438_62291440delTCC	ENST00000258991.3	-	2	222_224	c.138_140delGGA	c.(136-141)gaa>ga	p.EE50del	TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del|TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del			Q8IWB9	TEX2_HUMAN	testis expressed 2	50	Poly-Glu.				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)		ctcctcctcttcctcctcctcct	0.552													8	523	---	---	---	---						-	62291440	TCC	-	62291438	7	5	25	1	0	1	0	1	0	0	0	0	15840	1783	62	0	3308	0	TEX2	17	62291438	In_Frame_Del	DEL	TCC	TCGA-IB-8126-01A-11D-2396-08	341918	62291438	18903772	133	23466											
DDX5	1655	broad.mit.edu	37	chr17	62496298	62496298	+	Frame_Shift_Del	DEL	T	T	-													actgtaaacaccattctgagTttttgccccaaaatctcttt							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:62496298delT	ENST00000225792.5	-	13	1989	c.1588delA	c.(1588-1590)ctfs	p.T530fs	DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000578804.1_Frame_Shift_Del_p.T530fs|DDX5_ENST00000450599.2_Frame_Shift_Del_p.T451fs	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	530					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)			CCATTCTGAGTTTTTGCCCCA	0.413			T	ETV4	prostate								8	997	---	---	---	---						-	62496298	T	-	62496298	7	5	25	1	0	1	0	1	0	0	0	0	4390	1725	60	0	260	0	DDX5	17	62496298	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08	204860	62496298	18698912	134	23467											
CARD14	79092	broad.mit.edu	37	chr17	78172300	78172301	+	Frame_Shift_Ins	INS	-	-	G													agcagatcagcgtcatcggcINSgggaacctcacgggcatctt							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:78172300_78172301insG	ENST00000573882.1	+	15	2297_2298	c.1761_1762insG	c.(1759-1764)ggggaafs	p.E588fs	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Frame_Shift_Ins_p.E588fs|CARD14_ENST00000570421.1_Frame_Shift_Ins_p.E588fs|CARD14_ENST00000392434.2_Frame_Shift_Ins_p.E351fs			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	588	PDZ.				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)			GCGTCATCGGCGGGAACCTCAC	0.678													13	646	---	---	---	---						G	78172301	-	G	78172300	7	5	25	1	0	1	1	0	0	0	0	0	2664	755	27	0	1807	0	CARD14	17	78172300	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	15676002	78172300	3022910	135	23468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R5202H|RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000336301.6_Missense_Mutation_p.R3226H|CTD-2047H16.4_ENST00000573394.1_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)			GAGCGCTTCCGCCCTCAGTGG	0.483													27	650					0	0	0.099896	0	0	A	78363984	G	A	78363984	3	1	25	1	0	0	0	0	1	0	0	0	13529	1087	38	1	16039	1	RNF213	17	78363984	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	191684	78363984	2831226	136	23469											
CYP4F3	4051	broad.mit.edu	37	chr19	15769322	15769322	+	Frame_Shift_Del	DEL	T	T	-													cattatctgcctcatcagtgTttttggaacccatcacaacc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:15769322delT	ENST00000221307.7	+	11	1319	c.1271delT	c.(1270-1272)gtfs	p.V424fs	CYP4F3_ENST00000591058.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000586182.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000585846.1_Frame_Shift_Del_p.V424fs	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	424					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CTCATCAGTGTTTTTGGAACC	0.622													9	1511	---	---	---	---						-	15769322	T	-	15769322	7	5	25	1	0	1	0	1	0	0	0	0	4213	1725	60	0	1309	0	CYP4F3	19	15769322	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08		15769322	43359661	137	23470											
MYO9B	4650	broad.mit.edu	37	chr19	17311567	17311568	+	Frame_Shift_Ins	INS	-	-	G													cacagtgtcagagaagtggcINSgggaatcggtgttccgccag							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:17311567_17311568insG	ENST00000595618.1	+	26	4644_4645	c.4492_4493insG	c.(4492-4494)ggafs	p.G1498fs	MYO9B_ENST00000594824.1_Frame_Shift_Ins_p.G1498fs|MYO9B_ENST00000397274.2_Frame_Shift_Ins_p.G1498fs	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1498	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						AGAGAAGTGGCGGGAATCGGTG	0.559													13	779	---	---	---	---						G	17311568	-	G	17311567	7	5	25	1	0	1	1	0	0	0	0	0	10133	759	27	0	4590	0	MYO9B	19	17311567	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	1542245	17311567	41817416	138	23471											
ARHGAP33	115703	broad.mit.edu	37	chr19	36278842	36278842	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacggcatgcttggccaatcAcccccactccacaggtcccc	7	19	1	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:36278842A>C	ENST00000007510.4	+	21	3519	c.3375A>C	c.(3373-3375)tcA>tcC	p.S1125S	ARHGAP33_ENST00000378944.5_Silent_p.S961S|ARHGAP33_ENST00000314737.5_Silent_p.S964S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1125					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						TTGGCCAATCACCCCCACTCC	0.667													22	104					0	0	0.108266	0	0	C	36278842	A	C	36278842	2	2	25	1	0	0	0	0	0	0	0	1	879	146	6	3		3	ARHGAP33	19	36278842	Silent	SNP	A	TCGA-IB-8126-01A-11D-2396-08	18967275	36278842	22850141	139	23472											
ZFP36	7538	broad.mit.edu	37	chr19	39899271	39899271	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcgaggcgggagtttttGcaccaccccagcccgtggca	12	14	1	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:39899271G>T	ENST00000597629.1	+	2	1005	c.931G>T	c.(931-933)Gca>Tca	p.A311S	ZFP36_ENST00000248673.3_Missense_Mutation_p.A305S			P26651	TTP_HUMAN	ZFP36 ring finger protein	305					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGAGTTTTTGCACCACCCCA	0.617													28	180					2.89935e-36	3.20525e-36	0.139131	1	0	T	39899271	G	T	39899271	3	4	25	1	0	0	0	0	1	0	0	0	17703	1319	46	2	919	2	ZFP36	19	39899271	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	3620429	39899271	19229712	140	23473											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000595687.2_Missense_Mutation_p.I414V|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_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													7	1104					0	0	0.021553	0	0	C	40581109	T	C	40581109	3	2	25	1	0	0	0	0	1	0	0	0	18201	1406	49	3	816	3	ZNF780A	19	40581109	Missense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08	681838	40581109	18547874	141	23474											
ERF	2077	broad.mit.edu	37	chr19	42753020	42753021	+	Frame_Shift_Ins	INS	-	-	C													cgggggcggtggggctagcgINScccctgccccctcagccagc					rs139842507	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:42753020_42753021insC	ENST00000222329.4	-	4	1400_1401	c.1243_1244insG	c.(1243-1245)gctfs	p.A415fs	ERF_ENST00000440177.2_Frame_Shift_Ins_p.A340fs|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	415					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)				TGGGGCTAGCGCCCCTGCCCCC	0.688													9	502	---	---	---	---						C	42753021	-	C	42753020	7	5	25	1	0	1	1	0	0	0	0	0	5249	1087	38	0	406	0	ERF	19	42753020	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	2171911	42753020	16375963	142	23475											
PVRL2	5819	broad.mit.edu	37	chr19	45381749	45381751	+	In_Frame_Del	DEL	GAG	GAG	-													tggaaccagatggcaaggatGaggaggaggaggaggaggaa							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:45381749_45381751delGAG	ENST00000252485.4	+	6	1663_1665	c.1312_1314delGAG	c.(1312-1314)del	p.E445del	PVRL2_ENST00000252483.5_Intron	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	504					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)		TGGCAaggatgaggaggaggagg	0.591													9	138	---	---	---	---						-	45381751	GAG	-	45381749	7	5	25	1	0	1	0	1	0	0	0	0	12892	1291	45	0	1334	0	PVRL2	19	45381749	In_Frame_Del	DEL	GAG	TCGA-IB-8126-01A-11D-2396-08	2628729	45381749	13747234	143	23476											
CGB	1082	broad.mit.edu	37	chr19	49526203	49526203	+	Frame_Shift_Del	DEL	G	G	-													cgggatgggcttggaaggctGgggggaggggcctttgagga					rs17852109	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:49526203delG	ENST00000357383.4	-	3	799	c.438delC	c.(436-438)ccfs	p.P146fs		NM_000737.3	NP_000728.1	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide	146					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			large_intestine(1)	1		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)	Choriogonadotropin alfa(DB00097)	TTGGAAGGCTGGGGGGAGGGG	0.647													10	773	---	---	---	---						-	49526203	G	-	49526203	7	5	25	1	0	1	0	1	0	0	0	0	3318	1335	47	0	63	0	CGB	19	49526203	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	4144454	49526203	9602780	144	23477											
ZNF347	84671	broad.mit.edu	37	chr19	53644386	53644386	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgtaaggtttttcTccagtatggatgacctgatg	9	6	1	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:53644386T>A	ENST00000452676.2	-	5	2124	c.1698A>T	c.(1696-1698)ggA>ggT	p.G566G	ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					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)		AAGGTTTTTCTCCAGTATGGA	0.408													6	758					0	0	0.02938	0	0	A	53644386	T	A	53644386	2	1	25	1	0	0	0	0	0	0	0	1	17918	1538	54	5		5	ZNF347	19	53644386	Silent	SNP	T	TCGA-IB-8126-01A-11D-2396-08	4118183	53644386	5484597	145	23478											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-													cctttctgctccttcctccaTcctcctcctcctcctccagc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gat>ga	p.ED67del	TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.					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)					CCTTCCTCCATCCTCCTCCTCCT	0.645													9	481	---	---	---	---						-	54675749	TCC	-	54675747	7	5	25	1	0	1	0	1	0	0	0	0	16047	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-IB-8126-01A-11D-2396-08	1031361	54675747	4453236	146	23479											
PANK2	80025	broad.mit.edu	37	chr20	3893120	3893120	+	Frame_Shift_Del	DEL	T	T	-													catagtcttggaggaggaacTttttttggtctctgctgtct							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:3893120delT	ENST00000497424.1	+	4	689	c.378delT	c.(376-378)acfs	p.T126fs	PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	417			G -> A (in dbSNP:rs3737084).		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						GAGGAGGAACTTTTTTTGGTC	0.343													7	963	---	---	---	---						-	3893120	T	-	3893120	7	5	25	1	0	1	0	1	0	0	0	0	11464	1596	56	0	1265	0	PANK2	20	3893120	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08		3893120	59132400	147	23480											
BCL2L1	598	broad.mit.edu	37	chr20	30309591	30309591	+	Frame_Shift_Del	DEL	A	A	-													acagtgccccgccgaaggagAaaaaggccacaatgcgaccc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:30309591delA	ENST00000307677.4	-	2	841	c.431delT	c.(430-432)tcfs	p.F144fs	BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376055.4_Intron	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	144					induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GCCGAAGGAGAAAAAGGCCAC	0.542													13	1851	---	---	---	---						-	30309591	A	-	30309591	7	5	25	1	0	1	0	1	0	0	0	0	1365	246	9	0	278	0	BCL2L1	20	30309591	Frame_Shift_Del	DEL	A	TCGA-IB-8126-01A-11D-2396-08	26416471	30309591	32715929	148	23481											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	480					0	0	0.105934	0	0	T	36694636	C	T	36694636	3	4	25	1	0	0	0	0	1	0	0	0	13668	893	31	1	831	1	RPRD1B	20	36694636	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	6385045	36694636	26330884	149	23482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372541.1_3'UTR|SNX21_ENST00000462307.1_3'UTR|SNX21_ENST00000491381.1_Missense_Mutation_p.R212H|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													5	366					0	0	0.014758	0	0	A	44469465	G	A	44469465	3	1	25	1	0	0	0	0	1	0	0	0	14947	1145	40	1	664	1	SNX21	20	44469465	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	7774829	44469465	18556055	150	23483											
ZMYND8	23613	broad.mit.edu	37	chr20	45875072	45875072	+	Frame_Shift_Del	DEL	T	T	-													ctgggtttgtaggcttgggcTtttttttaacagcagatggc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:45875072delT	ENST00000311275.7	-	14	2157	c.1904delA	c.(1903-1905)agfs	p.K635fs	ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	635							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)			AGGCTTGGGCTTTTTTTTAAC	0.488													8	918	---	---	---	---						-	45875072	T	-	45875072	7	5	25	1	0	1	0	1	0	0	0	0	17769	1609	56	0	1642	0	ZMYND8	20	45875072	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08	1405607	45875072	17150448	151	23484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	931					0	0	0.038147	0	0	A	47887081	G	A	47887081	3	1	25	1	0	0	0	0	1	0	0	0	18247	1294	45	2	4536	2	ZNFX1	20	47887081	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	2012009	47887081	15138439	152	23485											
DIDO1	11083	broad.mit.edu	37	chr20	61512380	61512381	+	Frame_Shift_Ins	INS	-	-	G													gtctccaaccgtggcggggcINSgggtgccctccccaggctct							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:61512380_61512381insG	ENST00000266070.4	-	16	5252_5253	c.4927_4928insC	c.(4927-4929)cccfs	p.P1643fs	DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1643					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)					CGTGGCGGGGCGGGTGCCCTCC	0.728													8	103	---	---	---	---						G	61512381	-	G	61512380	7	5	25	1	0	1	1	0	0	0	0	0	4550	768	27	0	1798	0	DIDO1	20	61512380	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	13625299	61512380	1513140	153	23486											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	392					0	0	0.132662	0	0	T	32493078	C	T	32493078	3	4	25	1	0	0	0	0	1	0	0	0	15950	536	19	1	395	1	TIAM1	21	32493078	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08		32493078	15636817	154	23487											
POTEH	23784	broad.mit.edu	37	chr22	16287673	16287673	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgccgctccccctgcaCcaggggaagcagtggcagca	12	16	1	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:16287673C>G	ENST00000343518.6	-	1	264	c.213G>C	c.(211-213)tgG>tgC	p.W71C		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	71								p.W71C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCCCCTGCACCAGGGGAAGC	0.582													8	1856					0	0	0.014758	0	0	G	16287673	C	G	16287673	3	3	25	1	0	0	0	0	1	0	0	0	12314	508	18	5	1464	5	POTEH	22	16287673	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08		16287673	35016893	155	23488											
MICAL3	57553	broad.mit.edu	37	chr22	18301214	18301214	+	Frame_Shift_Del	DEL	G	G	-													ctctctgtcggacggggaccGgggggttggcagggacaacg					rs143411730	by1000genomes	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:18301214delG	ENST00000441493.2	-	26	4565	c.4213delC	c.(4213-4215)ggfs	p.R1405fs		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1405	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)		GACGGGGACCGGGGGGTTGGC	0.667													8	850	---	---	---	---						-	18301214	G	-	18301214	7	5	25	1	0	1	0	1	0	0	0	0	9619	1115	39	0	1823	0	MICAL3	22	18301214	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	2013541	18301214	33003352	156	23489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								17	40					0	0	0.183431	0	0	C	28194183	A	C	28194183	2	2	25	1	0	0	0	0	0	0	0	1	9722	146	6	3		3	MN1	22	28194183	Silent	SNP	A	TCGA-IB-8126-01A-11D-2396-08	9892969	28194183	23110383	157	23490											
EWSR1	2130	broad.mit.edu	37	chr22	29695794	29695794	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctggacctttgatggaacaGatgggaggaagaagaggagg	17	5	0	4			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:29695794G>A	ENST00000397938.2	+	16	2203	c.1884G>A	c.(1882-1884)caG>caA	p.Q628Q	EWSR1_ENST00000332035.6_Silent_p.Q572Q|EWSR1_ENST00000332050.6_Silent_p.Q555Q|EWSR1_ENST00000331029.7_Silent_p.Q590Q|EWSR1_ENST00000414183.2_Silent_p.Q633Q|EWSR1_ENST00000406548.1_Silent_p.Q627Q	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	628	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						TGATGGAACAGATGGGAGGAA	0.602			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"								5	109					0	0	0.014758	0	0	A	29695794	G	A	29695794	2	1	25	1	0	0	0	0	0	0	0	1	5323	933	33	2		2	EWSR1	22	29695794	Silent	SNP	G	TCGA-IB-8126-01A-11D-2396-08	1501611	29695794	21608772	158	23491											
DDX17	10521	broad.mit.edu	37	chr22	38897210	38897211	+	Frame_Shift_Ins	INS	-	-	T													ggagctcactcaaatcccacINSttttttttacgcaaacgctc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:38897210_38897211insT	ENST00000396821.3	-	2	461_462	c.362_363insA	c.(361-363)atgfs	p.M121fs	DDX17_ENST00000381633.3_Frame_Shift_Ins_p.M42fs|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	42					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TCAAATCCCACTTTTTTTTACG	0.421													8	231	---	---	---	---						T	38897211	-	T	38897210	7	5	25	1	0	1	1	0	0	0	0	0	4367	564	20	0	1880	0	DDX17	22	38897210	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	9201416	38897210	12407356	159	23492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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"								21	550					1.64293e-13	1.80798e-13	0.083992	1	0	T	1584602	G	T	1584602	3	4	25	1	0	0	0	0	1	0	0	0	11402	1000	35	2	233	2	P2RY8	23	1584602	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08		1584602	153685958	160	23493											
OFD1	8481	broad.mit.edu	37	chrX	13764946	13764946	+	Frame_Shift_Del	DEL	A	A	-													gcaaaaattaaaatggaagcAaaaaaaaagtatgaaaagga							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:13764946delA	ENST00000380567.1	+	9	1154	c.282delA	c.(280-282)gcfs	p.A94fs	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	234	LisH.				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						AAATGGAAGCAAAAAAAAAGT	0.299													12	383	---	---	---	---						-	13764946	A	-	13764946	7	5	25	1	0	1	0	1	0	0	0	0	10886	117	5	0	732	0	OFD1	23	13764946	Frame_Shift_Del	DEL	A	TCGA-IB-8126-01A-11D-2396-08	12180344	13764946	141505614	161	23494											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		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						GGAGCCTCCCAATACTGGAGT	0.642													8	875					0	0	0.069234	0	0	G	37028425	A	G	37028425	3	3	25	1	0	0	0	0	1	0	0	0	5607	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-IB-8126-01A-11D-2396-08	23263479	37028425	118242135	162	23495											
RBM10	8241	broad.mit.edu	37	chrX	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-													gactatcggaccgagcaaggGgaggaggaggaggaggagga							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggg>gg	p.GE112del	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_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	112					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						CCGAGCAAGGggaggaggaggag	0.66													9	220	---	---	---	---						-	47030563	GGA	-	47030561	7	5	25	1	0	1	0	1	0	0	0	0	13163	1219	43	0	346	0	RBM10	23	47030561	In_Frame_Del	DEL	GGA	TCGA-IB-8126-01A-11D-2396-08	10002136	47030561	108239999	163	23496											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000358526.2_Silent_p.S687S|AKAP4_ENST00000376058.2_Silent_p.S304S|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.S678S			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													9	281					0	0	0.058154	0	0	G	49957303	A	G	49957303	2	3	25	1	0	0	0	0	0	0	0	1	450	156	6	3		3	AKAP4	23	49957303	Silent	SNP	A	TCGA-IB-8126-01A-11D-2396-08	2926742	49957303	105313257	164	23497											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000276014.7_Silent_p.L949L|CCNB3_ENST00000376038.1_Intron|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													6	604					0	0	0.021553	0	0	G	50054016	A	G	50054016	2	3	25	1	0	0	0	0	0	0	0	1	2936	417	15	3		3	CCNB3	23	50054016	Silent	SNP	A	TCGA-IB-8126-01A-11D-2396-08	96713	50054016	105216544	165	23498											
AR	367	broad.mit.edu	37	chrX	66765159	66765167	+	In_Frame_Del	DEL	GCAGCAGCA	GCAGCAGCA	-													ggcgccagtttgctgctgctGcagcagcagcagcagcagca					rs72181988		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:66765159_66765167delGCAGCAGCA	ENST00000374690.3	+	1	695_703	c.171_179delGCAGCAGCA	c.(169-180)ctg>ct	p.LQQQ57del	AR_ENST00000396044.3_In_Frame_Del_p.LQQQ57del|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_In_Frame_Del_p.LQQQ57del	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	57	Modulating.|Poly-Leu.		L -> Q (in prostate cancer).		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	p.Q58L(2)		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)	TGCTGCTGCTgcagcagcagcagcagcag	0.665									Androgen Insensitivity Syndrome				16	178	---	---	---	---						-	66765167	GCAGCAGCA	-	66765159	7	5	25	1	0	1	0	1	0	0	0	0	833	1306	46	0	173	0	AR	23	66765159	In_Frame_Del	DEL	GCAGCAGCA	TCGA-IB-8126-01A-11D-2396-08	16711143	66765159	88505401	166	23499											
EDA	1896	broad.mit.edu	37	chrX	68836236	68836237	+	Frame_Shift_Ins	INS	-	-	G													gccagggctgcgggtgtggcINSggggcccctgcccgggcggg					rs41539891		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:68836236_68836237insG	ENST00000374552.4	+	1	326_327	c.84_85insG	c.(82-87)gggggcfs	p.GG28fs	EDA_ENST00000338901.3_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000525810.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000374553.2_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000527388.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000524573.1_Frame_Shift_Ins_p.GG28fs	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	28					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						GCGGGTGTGGCGGGGCCCCTGC	0.708													7	239	---	---	---	---						G	68836237	-	G	68836236	7	5	25	1	0	1	1	0	0	0	0	0	4929	755	27	0	86	0	EDA	23	68836236	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	2071077	68836236	86434324	167	23500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	313					3.32936e-07	3.56611e-07	0.175082	1	0	A	70146816	C	A	70146816	3	1	25	1	0	0	0	0	1	0	0	0	14753	912	32	2	513	2	SLC7A3	23	70146816	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	1310580	70146816	85123744	168	23501											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	8	8	3	2	rs61754468	by1000genomes	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413													7	486					0	0	0.02938	0	0	C	73811938	G	C	73811938	2	2	25	1	0	0	0	0	0	0	0	1	13442	1335	47	5		5	RLIM	23	73811938	Silent	SNP	G	TCGA-IB-8126-01A-11D-2396-08	3665122	73811938	81458622	169	23502											
CUL4B	8450	broad.mit.edu	37	chrX	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-													ttgcagcagttggtgaagatGaggaggaggaggaggaggat							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:119694117_119694119delGAG	ENST00000371322.5	-	1	436_438	c.375_377delCTC	c.(373-378)tca>tc	p.SS127del	CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	145	Ser-rich.				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						TGGTGAAGATgaggaggaggagg	0.488													9	396	---	---	---	---						-	119694119	GAG	-	119694117	7	5	25	1	0	1	0	1	0	0	0	0	4081	1294	45	0	2390	0	CUL4B	23	119694117	In_Frame_Del	DEL	GAG	TCGA-IB-8126-01A-11D-2396-08	45882179	119694117	35576443	170	23503											
GPR112	139378	broad.mit.edu	37	chrX	135455156	135455156	+	Frame_Shift_Del	DEL	G	G	-													gctggctttggctgtgctgcGgggggaccacacgtttgatg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:135455156delG	ENST00000394143.1	+	15	8000	c.7709delG	c.(7708-7710)cgfs	p.R2570fs	GPR112_ENST00000287534.4_Frame_Shift_Del_p.R2368fs|GPR112_ENST00000412101.1_Frame_Shift_Del_p.R2365fs|GPR112_ENST00000370652.1_Frame_Shift_Del_p.R2570fs|GPR112_ENST00000394141.1_Frame_Shift_Del_p.R2365fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2570					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R2570L(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)					GCTGTGCTGCGGGGGGACCAC	0.532													8	2089	---	---	---	---						-	135455156	G	-	135455156	7	5	25	1	0	1	0	1	0	0	0	0	6669	1116	39	0	7755	0	GPR112	23	135455156	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	15761039	135455156	19815404	171	23504											
MCF2	4168	broad.mit.edu	37	chrX	138697052	138697052	+	Frame_Shift_Del	DEL	A	A	-													cattttaccttgtttagatgAaaaaaatggtgtcccagatg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:138697052delA	ENST00000520602.1	-	13	1816	c.1531delT	c.(1531-1533)cafs	p.S512fs	MCF2_ENST00000370573.4_Frame_Shift_Del_p.S452fs|MCF2_ENST00000370576.4_Frame_Shift_Del_p.S452fs|MCF2_ENST00000370578.4_Frame_Shift_Del_p.S597fs|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000536274.1_Frame_Shift_Del_p.S413fs|MCF2_ENST00000338585.6_Frame_Shift_Del_p.S452fs|MCF2_ENST00000519895.1_Frame_Shift_Del_p.S512fs|MCF2_ENST00000414978.1_Frame_Shift_Del_p.S512fs			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	452	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	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)					TGTTTAGATGAAAAAAATGGT	0.368													7	881	---	---	---	---						-	138697052	A	-	138697052	7	5	25	1	0	1	0	1	0	0	0	0	9428	246	9	0	1570	0	MCF2	23	138697052	Frame_Shift_Del	DEL	A	TCGA-IB-8126-01A-11D-2396-08	3241896	138697052	16573508	172	23505											
PNMA3	29944	broad.mit.edu	37	chrX	152225996	152225997	+	Frame_Shift_Ins	INS	-	-	G													gagatgctacagatgtggcaINSggtgcccgagggggaaaaga							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:152225996_152225997insG	ENST00000447306.1	+	2	920_921	c.584_585insG	c.(583-585)cgtfs	p.R195fs	PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.R195fs|PNMA3_ENST00000370264.4_Frame_Shift_Ins_p.R195fs	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	195					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					cagatgtggcaggtgcccgagg	0.574													7	897	---	---	---	---						G	152225997	-	G	152225996	7	5	25	1	0	1	1	0	0	0	0	0	12203	188	7	0	586	0	PNMA3	23	152225996	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	13528944	152225996	3044564	173	23506											
HCFC1	3054	broad.mit.edu	37	chrX	153216342	153216342	+	Frame_Shift_Del	DEL	C	C	-													gctgagatttcgctgaagggCccccggccacaggcattgat							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:153216342delC	ENST00000310441.7	-	23	6591	c.5625delG	c.(5623-5625)ggfs	p.G1875fs	HCFC1_ENST00000354233.3_Frame_Shift_Del_p.G1806fs|HCFC1_ENST00000369984.4_Frame_Shift_Del_p.G1920fs	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1875					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)					CGCTGAAGGGCCCCCGGCCAC	0.567													7	2015	---	---	---	---						-	153216342	C	-	153216342	7	5	25	1	0	1	0	1	0	0	0	0	7032	726	26	0	498	0	HCFC1	23	153216342	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	990346	153216342	2054218	174	23507											
TKTL1	8277	broad.mit.edu	37	chrX	153541044	153541044	+	Frame_Shift_Del	DEL	C	C	-													gcaggaatcttgacccacagCcccccattgaggactcacct							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:153541044delC	ENST00000369915.3	+	6	973	c.784delC	c.(784-786)ccfs	p.P263fs	TKTL1_ENST00000217905.7_Intron|TKTL1_ENST00000369912.2_Frame_Shift_Del_p.P207fs	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	263					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)					TGACCCACAGCCCCCCATTGA	0.468													7	633	---	---	---	---						-	153541044	C	-	153541044	7	5	25	1	0	1	0	1	0	0	0	0	15995	739	26	0	806	0	TKTL1	23	153541044	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	324702	153541044	1729516	175	23508											
DNAJC11	55735	broad.mit.edu	37	chr1	6712926	6712926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaagttactcgtctgagcGcaaagttaatggaacctcct	9	11	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:6712926G>A	ENST00000377577.5	-	6	716	c.593C>T	c.(592-594)gCg>gTg	p.A198V	DNAJC11_ENST00000377573.5_Missense_Mutation_p.A108V|DNAJC11_ENST00000542246.1_Missense_Mutation_p.A160V|DNAJC11_ENST00000294401.7_Missense_Mutation_p.A198V|DNAJC11_ENST00000349363.6_Missense_Mutation_p.A160V	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	198					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)		TCGTCTGAGCGCAAAGTTAAT	0.463													5	281					0	0	1	0	0	A	6712926	G	A	6712926	3	1	26	1	0	0	0	0	1	0	0	0	4657	1087	38	1	1130	1	DNAJC11	1	6712926	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		6712926	242537695	1	23509											
GPATCH3	63906	broad.mit.edu	37	chr1	27226621	27226621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacccccttaccgagatgaCgcagcagcaggtgcgggtct	12	14	1	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:27226621C>T	ENST00000361720.5	-	1	336	c.313G>A	c.(313-315)Gtc>Atc	p.V105I		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	105						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)		ACCGAGATGACGCAGCAGCAG	0.622													5	386					0	0	1	0	0	T	27226621	C	T	27226621	3	4	26	1	0	0	0	0	1	0	0	0	6632	536	19	1	1292	1	GPATCH3	1	27226621	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	20513695	27226621	222024000	2	23510											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_052896.3	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													20	153					0	0	1	0	0	A	34011733	G	A	34011733	3	1	26	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	6785112	34011733	215238888	3	23511											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000468084.1_3'UTR|C1orf122_ENST00000373042.4_3'UTR|C1orf122_ENST00000373043.1_3'UTR|C1orf122_ENST00000525096.2_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													5	366					0	0	1	0	0	A	38274791	G	A	38274791	2	1	26	1	0	0	0	0	0	0	0	1	2003	1131	39	1		1	C1orf122	1	38274791	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	4263058	38274791	210975830	4	23512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354777.2_Missense_Mutation_p.D299N|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000540432.1_Missense_Mutation_p.D301N|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.D210N|GNG12-AS1_ENST00000420587.1_RNA	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													39	333					0	0	1	0	0	T	68615942	C	T	68615942	3	4	26	1	0	0	0	0	1	0	0	0	17436	826	29	2	878	2	WLS	1	68615942	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	30341151	68615942	180634679	5	23513											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	441					0	0	1	0	0	A	151372521	G	A	151372521	3	1	26	1	0	0	0	0	1	0	0	0	12728	1087	38	1	211	1	PSMB4	1	151372521	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	82756579	151372521	97878100	6	23514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	1001					0	0	1	0	0	A	152327955	G	A	152327955	2	1	26	1	0	0	0	0	0	0	0	1	5956	962	34	2		2	FLG2	1	152327955	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	955434	152327955	96922666	7	23515											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	14	12	0	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		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)			gctgctgttgctgctgctgct	0.642													5	231					0	0	1	0	0	T	153907309	C	T	153907309	2	4	26	1	0	0	0	0	0	0	0	1	4462	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	1579354	153907309	95343312	8	23516											
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-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	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													6	943					1.58986e-06	1.66075e-06	1	1	0	A	169510405	C	A	169510405	3	1	26	1	0	0	0	0	1	0	0	0	5376	565	20	2	2803	2	F5	1	169510405	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	15603096	169510405	79740216	9	23517											
PRG4	10216	broad.mit.edu	37	chr1	186276143	186276145	+	In_Frame_Del	DEL	CTC	CTC	-													caccaagtctgcacccaccaCtcccaaggagcctgcaccca							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:186276143_186276145delCTC	ENST00000445192.2	+	7	1337_1339	c.1292_1294delCTC	c.(1291-1296)acc>a	p.TP431del	PRG4_ENST00000367483.4_In_Frame_Del_p.TP390del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_In_Frame_Del_p.TP388del|PRG4_ENST00000367485.4_In_Frame_Del_p.TP338del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	431	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						GCACCCACCACTCCCAAGGAGCC	0.655													13	406	---	---	---	---						-	186276145	CTC	-	186276143	7	5	26	1	0	1	0	1	0	0	0	0	12533	565	20	0	1314	0	PRG4	1	186276143	In_Frame_Del	DEL	CTC	TCGA-IB-A5SO-01A-11D-A32N-08	16765738	186276143	62974478	10	23518											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000321117.5_Silent_p.P66P|DNMT3A_ENST00000406659.3_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								12	246					0	0	1	0	0	C	25505560	T	C	25505560	2	2	26	1	0	0	0	0	0	0	0	1	4703	1799	63	3		3	DNMT3A	2	25505560	Silent	SNP	T	TCGA-IB-A5SO-01A-11D-A32N-08		25505560	217693813	11	23519											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:198498522T>C	ENST00000295049.3	-	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	213						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													21	258					0	0	1	0	0	C	198498522	T	C	198498522	3	2	26	1	0	0	0	0	1	0	0	0	13311	1783	62	3	891	3	RFTN2	2	198498522	Missense_Mutation	SNP	T	TCGA-IB-A5SO-01A-11D-A32N-08	172992962	198498522	44700851	12	23520											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	263					0.000602214	0.000621152	1	1	0	T	201724929	G	T	201724929	2	4	26	1	0	0	0	0	0	0	0	1	3559	1124	39	4		4	CLK1	2	201724929	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	3226407	201724929	41474444	13	23521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	132					0	0	1	0	0	T	215807679	C	T	215807679	3	4	26	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	14	23522											
WNT6	7475	broad.mit.edu	37	chr2	219735845	219735845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttgtgccaggctgagccGgaagtggtggcagagctagc	18	8	0	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:219735845G>A	ENST00000233948.3	+	2	394	c.177G>A	c.(175-177)ccG>ccA	p.P59P	WNT6_ENST00000486233.1_Intron	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	59					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)		AGGCTGAGCCGGAAGTGGTGG	0.687													5	519					0	0	1	0	0	A	219735845	G	A	219735845	2	1	26	1	0	0	0	0	0	0	0	1	17453	1103	39	1		1	WNT6	2	219735845	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	3928166	219735845	23463528	15	23523											
LRRN1	57633	broad.mit.edu	37	chr3	3888175	3888175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtcacaaccaaaaatgCcgccttcgcagtggacatct	7	12	2	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:3888175C>T	ENST00000319331.3	+	2	2611	c.1850C>T	c.(1849-1851)gCc>gTc	p.A617V	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	617						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)		ACCAAAAATGCCGCCTTCGCA	0.473													4	220					0	0	1	0	0	T	3888175	C	T	3888175	3	4	26	1	0	0	0	0	1	0	0	0	9079	739	26	2	1852	2	LRRN1	3	3888175	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		3888175	194134255	16	23524											
C3orf20	84077	broad.mit.edu	37	chr3	14746028	14746028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctctcacccatcttctGccaaccatcatttcagtcag	3	18	6	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:14746028G>A	ENST00000253697.3	+	7	1515	c.1063G>A	c.(1063-1065)Gcc>Acc	p.A355T	C3orf20_ENST00000412910.1_Missense_Mutation_p.A233T|C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000435614.1_Missense_Mutation_p.A233T	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	355						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						CCCATCTTCTGCCAACCATCA	0.512													7	598					0	0	1	0	0	A	14746028	G	A	14746028	3	1	26	1	0	0	0	0	1	0	0	0	2227	1319	46	2	1081	2	C3orf20	3	14746028	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	10857853	14746028	183276402	17	23525											
SATB1	6304	broad.mit.edu	37	chr3	18391133	18391135	+	In_Frame_Del	DEL	CTG	CTG	-													ggctgtggaggcggcggtgcCtgctgctgctgctgctgctg							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:18391133_18391135delCTG	ENST00000338745.6	-	11	3553_3555	c.1819_1821delCAG	c.(1819-1821)del	p.Q607del	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_In_Frame_Del_p.Q607del|SATB1_ENST00000417717.2_In_Frame_Del_p.Q639del	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	607	Poly-Gln.				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						GCGGCGGTGCctgctgctgctgc	0.606													7	92	---	---	---	---						-	18391135	CTG	-	18391133	7	5	26	1	0	1	0	1	0	0	0	0	13906	680	24	0	474	0	SATB1	3	18391133	In_Frame_Del	DEL	CTG	TCGA-IB-A5SO-01A-11D-A32N-08	3645105	18391133	179631297	18	23526											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	209					4.96729e-08	5.22202e-08	1	1	0	T	30715708	G	T	30715708	4	4	26	1	0	0	0	0	0	1	0	0	15882	1175	41	2	1463	2	TGFBR2	3	30715708	Nonsense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	12324575	30715708	167306722	19	23527											
FYCO1	79443	broad.mit.edu	37	chr3	46009154	46009155	+	Frame_Shift_Ins	INS	-	-	A													agttctgggccaggcggcccINSagcaagccgctcgagcatac							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:46009154_46009155insA	ENST00000296137.2	-	8	1876_1877	c.1671_1672insT	c.(1669-1674)gcggccfs	p.A558fs	FYCO1_ENST00000535325.1_Frame_Shift_Ins_p.A558fs	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	558					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)		CCAGGCGGCCCAGCAAGCCGCT	0.604													7	316	---	---	---	---						A	46009155	-	A	46009154	7	5	26	1	0	1	1	0	0	0	0	0	6160	594	21	0	2808	0	FYCO1	3	46009154	Frame_Shift_Ins	INS	-	TCGA-IB-A5SO-01A-11D-A32N-08	15293446	46009154	152013276	20	23528											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:47889357_47889358delAT	ENST00000446256.2	+	15	2652_2653	c.2080_2081delAT	c.(2080-2082)tfs	p.I694fs	DHX30_ENST00000457607.1_Frame_Shift_Del_p.I761fs|DHX30_ENST00000445061.1_Frame_Shift_Del_p.I733fs|DHX30_ENST00000348968.4_Frame_Shift_Del_p.I705fs	NM_014966.3	NP_055781.2	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													16	195	---	---	---	---						-	47889358	AT	-	47889357	7	5	26	1	0	1	0	1	0	0	0	0	4532	217	8	0	2254	0	DHX30	3	47889357	Frame_Shift_Del	DEL	AT	TCGA-IB-A5SO-01A-11D-A32N-08	1880203	47889357	150133073	21	23529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	230					0	0	1	0	0	A	48677390	G	A	48677390	3	1	26	1	0	0	0	0	1	0	0	0	3245	1115	39	1	318	1	CELSR3	3	48677390	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	788033	48677390	149345040	22	23530											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266022.4_Missense_Mutation_p.L522R|RBM6_ENST00000442092.1_5'UTR|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_5'UTR			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													10	87					0	0	1	0	0	G	50085685	T	G	50085685	3	3	26	1	0	0	0	0	1	0	0	0	13196	1522	53	3	1587	3	RBM6	3	50085685	Missense_Mutation	SNP	T	TCGA-IB-A5SO-01A-11D-A32N-08	1408295	50085685	147936745	23	23531											
DNAH1	25981	broad.mit.edu	37	chr3	52418872	52418872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacctggcagagctgacccGccacaactatgtgaccccca	9	16	0	3			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:52418872G>A	ENST00000420323.2	+	53	8654	c.8393G>A	c.(8392-8394)cGc>cAc	p.R2798H		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2798	AAA 4 (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)		GAGCTGACCCGCCACAACTAT	0.547											OREG0015612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	43					0	0	1	0	0	A	52418872	G	A	52418872	3	1	26	1	0	0	0	0	1	0	0	0	4625	1087	38	1	8599	1	DNAH1	3	52418872	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	2333187	52418872	145603558	24	23532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	169					0	0	1	0	0	T	100365497	C	T	100365497	4	4	26	1	0	0	0	0	0	1	0	0	6681	827	29	2	1233	2	GPR128	3	100365497	Nonsense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	47946625	100365497	97656933	25	23533											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	390					0	0	1	0	0	T	7716916	C	T	7716916	2	4	26	1	0	0	0	0	0	0	0	1	14985	547	19	1		1	SORCS2	4	7716916	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		7716916	183437360	26	23534											
BMP2K	55589	broad.mit.edu	37	chr4	79792161	79792169	+	In_Frame_Del	DEL	CAGCACCAC	CAGCACCAC	-													agcagcagcagcagcagcagCagcaccaccaccaccaccac					rs2114202	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:79792161_79792169delCAGCACCAC	ENST00000335016.5	+	11	1622_1630	c.1456_1464delCAGCACCAC	c.(1456-1464)del	p.QHH486del	BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	486	Gln/His-rich.		Q -> H (in dbSNP:rs2114202).	Missing (in Ref. 2; CAB70863).		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						gcagcagcagcagcaccaccaccaccacc	0.488													7	142	---	---	---	---						-	79792169	CAGCACCAC	-	79792161	7	5	26	1	0	1	0	1	0	0	0	0	1459	711	25	0	1498	0	BMP2K	4	79792161	In_Frame_Del	DEL	CAGCACCAC	TCGA-IB-A5SO-01A-11D-A32N-08	72075245	79792161	111362115	27	23535											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264366.6_Missense_Mutation_p.P401S|ANK2_ENST00000506722.1_Missense_Mutation_p.P380S|ANK2_ENST00000394537.3_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													7	152					0	0	1	0	0	T	114179218	C	T	114179218	3	4	26	1	0	0	0	0	1	0	0	0	617	855	30	2	1272	2	ANK2	4	114179218	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	34387057	114179218	76975058	28	23536											
MAML3	55534	broad.mit.edu	37	chr4	140810639	140810641	+	In_Frame_Del	DEL	GCT	GCT	-													ctggagctgtggaggtggcgGctgctgctgctgctgctgct							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:140810639_140810641delGCT	ENST00000509479.2	-	2	2805_2807	c.1949_1951delAGC	c.(1948-1953)ccg>c	p.QP650del	MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del|MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	646	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)					GGAGGTGGCGgctgctgctgctg	0.586													8	141	---	---	---	---						-	140810641	GCT	-	140810639	7	5	26	1	0	1	0	1	0	0	0	0	9257	1203	42	0	1481	0	MAML3	4	140810639	In_Frame_Del	DEL	GCT	TCGA-IB-A5SO-01A-11D-A32N-08	26631421	140810639	50343637	29	23537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_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													6	209					0	0	1	0	0	A	164050411	G	A	164050411	4	1	26	1	0	0	0	0	0	1	0	0	10188	1153	40	1	506	1	NAF1	4	164050411	Nonsense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	23239772	164050411	27103865	30	23538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	56					0	0	1	0	0	T	186379493	C	T	186379493	3	4	26	1	0	0	0	0	1	0	0	0	2765	536	19	1	261	1	CCDC110	4	186379493	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	22329082	186379493	4774783	31	23539											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	137					0	0	1	0	0	T	35954469	C	T	35954469	2	4	26	1	0	0	0	0	0	0	0	1	17023	755	27	1		1	UGT3A1	5	35954469	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		35954469	144960791	32	23540											
SYNPO	11346	broad.mit.edu	37	chr5	150029608	150029608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaagagctgcctcgcccGccaagcccagctccttggac	9	19	0	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr5:150029608G>A	ENST00000394243.1	+	3	2877	c.2503G>A	c.(2503-2505)Gcc>Acc	p.A835T	SYNPO_ENST00000522122.1_Missense_Mutation_p.A835T|SYNPO_ENST00000307662.4_Missense_Mutation_p.A591T|SYNPO_ENST00000519664.1_Missense_Mutation_p.A591T	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	835	Pro-rich.				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)			TGCCTCGCCCGCCAAGCCCAG	0.667													5	466					0	0	1	0	0	A	150029608	G	A	150029608	3	1	26	1	0	0	0	0	1	0	0	0	15513	1087	38	1	2509	1	SYNPO	5	150029608	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	114075139	150029608	30885652	33	23541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	163					0	0	1	0	0	T	156590199	C	T	156590199	2	4	26	1	0	0	0	0	0	0	0	1	5643	871	31	1		1	FAM71B	5	156590199	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	6560591	156590199	24325061	34	23542											
OR2J2	26707	broad.mit.edu	37	chr6	29141852	29141852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgccacttgttggttgCggcttcttgggtaattggtt	12	7	2	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:29141852C>T	ENST00000377167.2	+	1	542	c.440C>T	c.(439-441)gCg>gTg	p.A147V		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	147					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						TTGTTGGTTGCGGCTTCTTGG	0.463													7	648					0	0	1	0	0	T	29141852	C	T	29141852	3	4	26	1	0	0	0	0	1	0	0	0	11051	768	27	1	442	1	OR2J2	6	29141852	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		29141852	141973215	35	23543											
HSP90AB1	3326	broad.mit.edu	37	chr6	44217832	44217832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagtacctagaagagaggCgggtcaaagaagtagtgaag	15	5	1	5			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:44217832C>T	ENST00000371554.1	+	5	803	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R197W|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R197W			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	197					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)			AGAAGAGAGGCGGGTCAAAGA	0.433													5	235					0	0	1	0	0	T	44217832	C	T	44217832	3	4	26	1	0	0	0	0	1	0	0	0	7445	759	27	1	603	1	HSP90AB1	6	44217832	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	15075980	44217832	126897235	36	23544											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A													caacagcagcagcagcagcaGcaacagcagcagcagcagca							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				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						agcagcagcagcaacagcagc	0.736													9	119					0	0	1	0	0	A	45390463	G	A	45390463	2	1	26	1	0	0	0	0	0	0	0	1	13800	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	1172631	45390463	125724604	37	23545	158	2									
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G													cagcagcagcagcagcagcaAcagcagcagcagcagcagga							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				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						agcagcagcaacagcagcagc	0.731													8	111					0	0	1	0	0	G	45390466	A	G	45390466	2	3	26	1	0	0	0	0	0	0	0	1	13800	40	2	3		3	RUNX2	6	45390466	Silent	SNP	A	TCGA-IB-A5SO-01A-11D-A32N-08	3	45390466	125724601	38	23546	158	2									
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413795.1_Missense_Mutation_p.R543H|GRIK2_ENST00000369134.4_Missense_Mutation_p.R494H|GRIK2_ENST00000318991.6_Missense_Mutation_p.R543H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R543H|GRIK2_ENST00000421544.1_Missense_Mutation_p.R543H	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													6	412					0	0	1	0	0	A	102337618	G	A	102337618	3	1	26	1	0	0	0	0	1	0	0	0	6815	1087	38	1	1670	1	GRIK2	6	102337618	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	56947152	102337618	68777449	39	23547											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	195					0	0	1	0	0	A	132649632	G	A	132649632	2	1	26	1	0	0	0	0	0	0	0	1	9769	1136	40	1		1	MOXD1	6	132649632	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	30312014	132649632	38465435	40	23548											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	259					0	0	1	0	0	G	148853965	A	G	148853965	3	3	26	1	0	0	0	0	1	0	0	0	13901	43	2	3	1651	3	SASH1	6	148853965	Missense_Mutation	SNP	A	TCGA-IB-A5SO-01A-11D-A32N-08	16204333	148853965	22261102	41	23549											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000448038.1_Silent_p.D8484D|SYNE1_ENST00000354674.4_Silent_p.D710D|SYNE1_ENST00000341594.5_Silent_p.D8144D|SYNE1_ENST00000423061.1_Silent_p.D8484D|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Silent_p.D3056D|SYNE1_ENST00000539504.1_Silent_p.D687D	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)			5	229					0	0	1	0	0	A	152457816	G	A	152457816	2	1	26	1	0	0	0	0	0	0	0	1	15502	1252	44	2		2	SYNE1	6	152457816	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	3603851	152457816	18657251	42	23550											
FBXL18	80028	broad.mit.edu	37	chr7	5541019	5541019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacttgggcagctgcaggGcatccagcacgacattgcgc	14	12	0	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:5541019G>A	ENST00000382368.3	-	3	1004	c.881C>T	c.(880-882)gCc>gTc	p.A294V	FBXL18_ENST00000453700.3_Missense_Mutation_p.A294V	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	294									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)		CAGCTGCAGGGCATCCAGCAC	0.597													4	159					0	0	1	0	0	A	5541019	G	A	5541019	3	1	26	1	0	0	0	0	1	0	0	0	5747	1203	42	2	1287	2	FBXL18	7	5541019	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		5541019	153597644	43	23551											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	327					0	0	1	0	0	C	7625382	G	C	7625382	3	2	26	1	0	0	0	0	1	0	0	0	9637	1368	48	5	1778	5	MIOS	7	7625382	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	2084363	7625382	151513281	44	23552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355870.3_Missense_Mutation_p.I373M|STK31_ENST00000433467.2_Missense_Mutation_p.I373M|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.I350M	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													12	122					0	0	1	0	0	G	23792437	A	G	23792437	3	3	26	1	0	0	0	0	1	0	0	0	15352	381	14	3	1153	3	STK31	7	23792437	Missense_Mutation	SNP	A	TCGA-IB-A5SO-01A-11D-A32N-08	16167055	23792437	135346226	45	23553											
PUS7	54517	broad.mit.edu	37	chr7	105122888	105122888	+	Splice_Site	DEL	C	C	-													caagtctttgtgcagttattCtttaaaaaaaaaaaaaaaag							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:105122888delC	ENST00000356362.2	-	8	1135		c.e8-1		PUS7_ENST00000469408.1_Splice_Site	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)						pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TGCAGTTATTCTTTaaaaaaa	0.348													10	310	---	---	---	---						-	105122888	C	-	105122888	8	5	26	1	0	1	0	1	0	0	1	0	12885	927	32	0	1101	0	PUS7	7	105122888	Splice_Site	DEL	C	TCGA-IB-A5SO-01A-11D-A32N-08	81330451	105122888	54015775	46	23554											
NEFL	4747	broad.mit.edu	37	chr8	24811843	24811843	+	RNA	DEL	A	A	-													tttgaagacaaaaataaaacAaaaaaaaaatccgagcataa							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr8:24811843delA	ENST00000221169.5	-	0	1639							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)		AAAATAAAACAAAAAAAAAAT	0.328													12	94	---	---	---	---						-	24811843	A	-	24811843	6	5	26	0	1	1	0	1	0	0	0	0	10362	145	5	0		0	NEFL	8	24811843	RNA	DEL	A	TCGA-IB-A5SO-01A-11D-A32N-08		24811843	121552179	47	23555											
AGPAT6	137964	broad.mit.edu	37	chr8	41456786	41456786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagtctcctttggtatccGcaaactctacatgaaaagtc	8	10	2	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr8:41456786G>A	ENST00000396987.3	+	2	1055	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	43					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	p.R43H(2)		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)			TTTGGTATCCGCAAACTCTAC	0.433													5	290					0	0	1	0	0	A	41456786	G	A	41456786	3	1	26	1	0	0	0	0	1	0	0	0	388	1087	38	1	130	1	AGPAT6	8	41456786	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	16644943	41456786	104907236	48	23556											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	111					0	0	1	0	0	G	55539165	C	G	55539165	3	3	26	1	0	0	0	0	1	0	0	0	13584	797	28	5	2733	5	RP1	8	55539165	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	14082379	55539165	90824857	49	23557											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	329					0	0	1	0	0	T	70871889	C	T	70871889	2	4	26	1	0	0	0	0	0	0	0	1	2732	518	18	2		2	CBWD3	9	70871889	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		70871889	70341542	50	23558											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	165					0	0	1	0	0	A	77752511	G	A	77752511	3	1	26	1	0	0	0	0	1	0	0	0	11344	1145	40	1	496	1	OSTF1	9	77752511	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	6880622	77752511	63460920	51	23559											
NFIL3	4783	broad.mit.edu	37	chr9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-													agcttcattatttttccgccTtttttcccaatacatagcat							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)ggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81					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						TTTTTCCGCCTTTTTTCCCAA	0.423													7	643	---	---	---	---						-	94172779	T	-	94172779	7	5	26	1	0	1	0	1	0	0	0	0	10420	1608	56	0	1154	0	NFIL3	9	94172779	Frame_Shift_Del	DEL	T	TCGA-IB-A5SO-01A-11D-A32N-08	16420268	94172779	47040652	52	23560											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000550253.1_Missense_Mutation_p.R186H|TGFBR1_ENST00000374990.2_Missense_Mutation_p.R178H|TGFBR1_ENST00000552516.1_Missense_Mutation_p.R259H	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													6	250					0	0	1	0	0	A	101900330	G	A	101900330	3	1	26	1	0	0	0	0	1	0	0	0	15881	1145	40	1	778	1	TGFBR1	9	101900330	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	7727551	101900330	39313101	53	23561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	641					0	0	1	0	0	T	107456958	C	T	107456958	3	4	26	1	0	0	0	0	1	0	0	0	10988	884	31	1	258	1	OR13D1	9	107456958	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	5556628	107456958	33756473	54	23562											
CRAT	1384	broad.mit.edu	37	chr9	131864814	131864814	+	Frame_Shift_Del	DEL	C	C	-													tggttcatgcacagtggcttCccccccaggtactccacggg							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:131864814delC	ENST00000318080.2	-	5	789	c.495delG	c.(493-495)ggfs	p.G165fs	CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	165					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	ACAGTGGCTTCCCCCCCAGGT	0.607													7	1105	---	---	---	---						-	131864814	C	-	131864814	7	5	26	1	0	1	0	1	0	0	0	0	3870	842	30	0	1425	0	CRAT	9	131864814	Frame_Shift_Del	DEL	C	TCGA-IB-A5SO-01A-11D-A32N-08	24407856	131864814	9348617	55	23563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													3	11					0	0	1	0	0	A	139835466	G	A	139835466	3	1	26	1	0	0	0	0	1	0	0	0	5801	1087	38	1	89	1	FBXW5	9	139835466	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	7970652	139835466	1377965	56	23564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371605.3_Silent_p.G1431G|ABCA2_ENST00000341511.6_Silent_p.G1432G			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													9	185					0	0	1	0	0	A	139908435	G	A	139908435	2	1	26	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	57	23565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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													5	349					0	0	1	0	0	A	3143180	G	A	3143180	2	1	26	1	0	0	0	0	0	0	0	1	11814	1218	42	2		2	PFKP	10	3143180	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		3143180	132391567	58	23566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	229					0	0	1	0	0	T	102748967	C	T	102748967	4	4	26	1	0	0	0	0	0	1	0	0	1601	760	27	1	1002	1	C10orf2	10	102748967	Nonsense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	99605787	102748967	32785780	59	23567											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	EPS8L2_ENST00000318562.8_Silent_p.V355V|AP006621.9_ENST00000527021.2_RNA|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													17	202					0	0	1	0	0	T	722406	C	T	722406	2	4	26	1	0	0	0	0	0	0	0	1	5224	813	29	2		2	EPS8L2	11	722406	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		722406	134284110	60	23568											
APBB1	322	broad.mit.edu	37	chr11	6422650	6422651	+	Frame_Shift_Del	DEL	CG	CG	-													gcagcgggcattacgccgttCggccatgatctgaggaagga					rs34466697	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:6422650_6422651delCG	ENST00000389906.2	-	10	1611_1612	c.1512_1513delCG	c.(1510-1515)gcaafs	p.AE504fs	APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Frame_Shift_Del_p.AE502fs|APBB1_ENST00000299402.6_Frame_Shift_Del_p.AE502fs|APBB1_ENST00000530885.1_Frame_Shift_Del_p.AE282fs|APBB1_ENST00000533407.1_3'UTR	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	504	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	p.A502A(1)		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)		TTACGCCGTTCGGCCATGATCT	0.574													8	192	---	---	---	---						-	6422651	CG	-	6422650	7	5	26	1	0	1	0	1	0	0	0	0	755	893	31	0	639	0	APBB1	11	6422650	Frame_Shift_Del	DEL	CG	TCGA-IB-A5SO-01A-11D-A32N-08	5700244	6422650	128583866	61	23569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000477854.1_Missense_Mutation_p.A222V|PTPN5_ENST00000396167.2_Missense_Mutation_p.A386V|PTPN5_ENST00000358540.2_Missense_Mutation_p.A418V|PTPN5_ENST00000396168.1_Missense_Mutation_p.A394V|PTPN5_ENST00000396171.4_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)	22	349					0	0	1	0	0	A	18754215	G	A	18754215	3	1	26	1	0	0	0	0	1	0	0	0	12843	1087	38	1	460	1	PTPN5	11	18754215	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	12331565	18754215	116252301	62	23570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000532401.1_Silent_p.A132A|FOSL1_ENST00000531493.1_Intron	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													3	34					0	0	1	0	0	A	65661489	T	A	65661489	3	1	26	1	0	0	0	0	1	0	0	0	6020	1580	55	5	422	5	FOSL1	11	65661489	Missense_Mutation	SNP	T	TCGA-IB-A5SO-01A-11D-A32N-08	46907274	65661489	69345027	63	23571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409404.2_Missense_Mutation_p.R1487K|FAT3_ENST00000525166.1_Missense_Mutation_p.R1337K			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)			32	346					0	0	1	0	0	A	92523233	G	A	92523233	3	1	26	1	0	0	0	0	1	0	0	0	5724	942	33	2	4486	2	FAT3	11	92523233	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	26861744	92523233	42483283	64	23572											
IFT46	56912	broad.mit.edu	37	chr11	118427683	118427685	+	In_Frame_Del	DEL	ATC	ATC	-													tcagaatcagtttcagatgaAtcatcatcatcatcatcgtc							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:118427683_118427685delATC	ENST00000264020.2	-	5	651_653	c.274_276delGAT	c.(274-276)del	p.D92del	IFT46_ENST00000530872.1_In_Frame_Del_p.D92del|IFT46_ENST00000264021.3_In_Frame_Del_p.D41del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	41					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						TTTCAGATGAatcatcatcatca	0.478													7	262	---	---	---	---						-	118427685	ATC	-	118427683	7	5	26	1	0	1	0	1	0	0	0	0	7604	98	4	0	827	0	IFT46	11	118427683	In_Frame_Del	DEL	ATC	TCGA-IB-A5SO-01A-11D-A32N-08	25904450	118427683	16578833	65	23573											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	326					0	0	1	0	0	A	130319167	G	A	130319167	3	1	26	1	0	0	0	0	1	0	0	0	259	1087	38	1	301	1	ADAMTS15	11	130319167	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	11891484	130319167	4687349	66	23574											
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-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	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)			4	159					0	0	1	0	0	C	25380276	T	C	25380276	3	2	26	1	0	0	0	0	1	0	0	0	8481	1812	63	3	520	3	KRAS	12	25380276	Missense_Mutation	SNP	T	TCGA-IB-A5SO-01A-11D-A32N-08		25380276	108471619	67	23575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)			9	64					0	0	1	0	0	T	25398284	C	T	25398284	3	4	26	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	18008	25398284	108453611	68	23576											
PTHLH	5744	broad.mit.edu	37	chr12	28116642	28116642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaggaagaatcgtcgccGtaaatcttggatggacttcc	12	8	1	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:28116642G>A	ENST00000535992.1	-	3	509	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	PTHLH_ENST00000539239.1_Missense_Mutation_p.R55W|PTHLH_ENST00000201015.4_Missense_Mutation_p.R55W|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395872.1_Missense_Mutation_p.R55W|PTHLH_ENST00000538310.1_Missense_Mutation_p.R55W|PTHLH_ENST00000545234.1_Missense_Mutation_p.R55W|PTHLH_ENST00000395868.3_Missense_Mutation_p.R55W|PTHLH_ENST00000354417.3_Missense_Mutation_p.R55W			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	55					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)					AATCGTCGCCGTAAATCTTGG	0.468													5	432					0	0	1	0	0	A	28116642	G	A	28116642	3	1	26	1	0	0	0	0	1	0	0	0	12811	1144	40	1	382	1	PTHLH	12	28116642	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	2718358	28116642	105735253	69	23577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000266692.7_Missense_Mutation_p.R919S|NAV3_ENST00000228327.6_Missense_Mutation_p.R919S|NAV3_ENST00000536525.2_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)			4	285					0	0	1	0	0	C	78510672	G	C	78510672	3	2	26	1	0	0	0	0	1	0	0	0	10233	1165	41	5	2807	5	NAV3	12	78510672	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	50394030	78510672	55341223	70	23578											
UBC	7316	broad.mit.edu	37	chr12	125397652	125397652	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcccacctctgagacggagTaccaggtgcaaggtggactc	12	12	1	1	rs146795524		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.V146V			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3.				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)		TGAGACGGAGTACCAGGTGCA	0.512													7	502					0	0	1	0	0	C	125397652	T	C	125397652	2	2	26	1	0	0	0	0	0	0	0	1	16903	1625	57	3		3	UBC	12	125397652	Silent	SNP	T	TCGA-IB-A5SO-01A-11D-A32N-08	46886980	125397652	8454243	71	23579											
DIAPH3	81624	broad.mit.edu	37	chr13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T													aatacaaaaaaatctgtcaaINStttttttttcttcaccagct							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)tgafs	p.*320fs	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	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)		AAATCTGTCAATTTTTTTTTCT	0.322													9	350	---	---	---	---						T	60582734	-	T	60582733	7	5	26	1	0	1	1	0	0	0	0	0	4548	101	4	0	2722	0	DIAPH3	13	60582733	Frame_Shift_Ins	INS	-	TCGA-IB-A5SO-01A-11D-A32N-08		60582733	54587145	72	23580											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	497					0	0	1	0	0	T	110857876	C	T	110857876	3	4	26	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	50275143	110857876	4312002	73	23581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000351354.3_Missense_Mutation_p.A61T|EFS_ENST00000429593.2_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													5	293					0	0	1	0	0	T	23829227	C	T	23829227	3	4	26	1	0	0	0	0	1	0	0	0	4985	768	27	1	1237	1	EFS	14	23829227	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		23829227	83520313	74	23582											
AKAP6	9472	broad.mit.edu	37	chr14	33015218	33015218	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcccttctgctgccagCcagtcttatgagtgtttaca	8	12	2	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr14:33015218C>T	ENST00000280979.4	+	4	1529	c.1359C>T	c.(1357-1359)agC>agT	p.S453S	AKAP6_ENST00000557354.1_Silent_p.S453S|AKAP6_ENST00000557272.1_Silent_p.S453S	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	453					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)		CTGCTGCCAGCCAGTCTTATG	0.468													5	633					0	0	1	0	0	T	33015218	C	T	33015218	2	4	26	1	0	0	0	0	0	0	0	1	452	738	26	2		2	AKAP6	14	33015218	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	9185991	33015218	74334322	75	23583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	157					0	0	1	0	0	A	33290803	G	A	33290803	3	1	26	1	0	0	0	0	1	0	0	0	452	1290	45	2	3830	2	AKAP6	14	33290803	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	275585	33290803	74058737	76	23584											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355997.3_3'UTR|SEMA6D_ENST00000536845.2_Silent_p.P810P|SEMA6D_ENST00000537942.1_Silent_p.P748P|SEMA6D_ENST00000358066.4_Silent_p.P748P|SEMA6D_ENST00000558014.1_Silent_p.P748P|SEMA6D_ENST00000389432.2_Silent_p.P767P|SEMA6D_ENST00000389433.2_Silent_p.P791P|SEMA6D_ENST00000389428.3_Silent_p.P735P|SEMA6D_ENST00000354744.4_Silent_p.P754P|SEMA6D_ENST00000558816.1_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													22	326					0	0	1	0	0	A	48063190	G	A	48063190	2	1	26	1	0	0	0	0	0	0	0	1	14096	1132	40	1		1	SEMA6D	15	48063190	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		48063190	54468202	77	23585											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539562.2_5'UTR|UNC13C_ENST00000537900.1_Missense_Mutation_p.D2070N|UNC13C_ENST00000260323.11_Missense_Mutation_p.D2072N			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													9	70					0	0	1	0	0	A	54916007	G	A	54916007	3	1	26	1	0	0	0	0	1	0	0	0	17046	1290	45	2	6332	2	UNC13C	15	54916007	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	6852817	54916007	47615385	78	23586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	394					0	0	1	0	0	A	59409031	G	A	59409031	3	1	26	1	0	0	0	0	1	0	0	0	2935	1058	37	1	762	1	CCNB2	15	59409031	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	4493024	59409031	43122361	79	23587											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	70					0	0	1	0	0	A	82530841	G	A	82530841	3	1	26	1	0	0	0	0	1	0	0	0	4986	942	33	2	2880	2	EFTUD1	15	82530841	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	23121810	82530841	20000551	80	23588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	194					1	1	1	1	0	A	1814146	C	A	1814146	2	1	26	1	0	0	0	0	0	0	0	1	9336	759	27	4		4	MAPK8IP3	16	1814146	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		1814146	88540607	81	23589											
EME2	197342	broad.mit.edu	37	chr16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-													ggctgcaggtgaacaggaatTgctgctgctgctggagcccg							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:1824298_1824300delTGC	ENST00000307394.7	+	3	422_424	c.422_424delTGC	c.(421-426)ttg>t	p.LL143del	EME2_ENST00000568449.1_In_Frame_Del_p.LL143del			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	143					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination					9	496	---	---	---	---						-	1824300	TGC	-	1824298	7	5	26	1	0	1	0	1	0	0	0	0	5117	1821	63	0	432	0	EME2	16	1824298	In_Frame_Del	DEL	TGC	TCGA-IB-A5SO-01A-11D-A32N-08	10152	1824298	88530455	82	23590											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002696.3	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													5	390					0	0	1	0	0	A	4935121	G	A	4935121	3	1	26	1	0	0	0	0	1	0	0	0	12383	1086	38	1	1739	1	PPL	16	4935121	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	3110823	4935121	85419632	83	23591											
TAOK2	9344	broad.mit.edu	37	chr16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-													atgcctcagacaacgaggaaGaggaggaggaggaggaggaa							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)del	p.E392del	TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	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						CAACgaggaagaggaggaggagg	0.611													7	158	---	---	---	---						-	29994533	GAG	-	29994531	7	5	26	1	0	1	0	1	0	0	0	0	15605	943	33	0	1180	0	TAOK2	16	29994531	In_Frame_Del	DEL	GAG	TCGA-IB-A5SO-01A-11D-A32N-08	25059410	29994531	60360222	84	23592											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000569436.2_Missense_Mutation_p.A122T|NUTF2_ENST00000568396.2_Missense_Mutation_p.A122T|CTC-479C5.16_ENST00000587481.1_RNA	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													11	207					0	0	1	0	0	A	67904796	G	A	67904796	3	1	26	1	0	0	0	0	1	0	0	0	10827	1087	38	1	378	1	NUTF2	16	67904796	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	37910265	67904796	22449957	85	23593											
ADAMTS18	170692	broad.mit.edu	37	chr16	77356310	77356311	+	Frame_Shift_Ins	INS	-	-	A													ttcactttgccggacattgcINSaaaaaaaaattcaaagttct							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:77356310_77356311insA	ENST00000282849.5	-	14	2503_2504	c.2085_2086insT	c.(2083-2088)ttcaatfs	p.N696fs		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	696	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A696fs*18(2)		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						CCGGACATTGCAAAAAAAAATT	0.406													8	301	---	---	---	---						A	77356311	-	A	77356310	7	5	26	1	0	1	1	0	0	0	0	0	262	710	25	0	1619	0	ADAMTS18	16	77356310	Frame_Shift_Ins	INS	-	TCGA-IB-A5SO-01A-11D-A32N-08	9451514	77356310	12998443	86	23594											
ATMIN	23300	broad.mit.edu	37	chr16	81077602	81077624	+	Frame_Shift_Del	DEL	GTCCAACGGATGACCATGTACAG	GTCCAACGGATGACCATGTACAG	-													tcaaaccagtgggatagaaaGtccaacggatgaccatgtac					rs145397957		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:81077602_81077624delGTCCAACGGATGACCATGTACAG	ENST00000566488.1	+	3	1994_2016	c.1031_1053delGTCCAACGGATGACCATGTACAG	c.(1030-1053)afs	p.SPTDDHVQ344fs	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Frame_Shift_Del_p.SPTDDHVQ344fs|ATMIN_ENST00000299575.4_Frame_Shift_Del_p.SPTDDHVQ500fs			O43313	ATMIN_HUMAN	ATM interactor	500	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding	p.S500N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GGGATAGAAAGTCCAACGGATGACCATGTACAGATGGACCAAG	0.426													8	218	---	---	---	---						-	81077624	GTCCAACGGATGACCATGTACAG	-	81077602	7	5	26	1	0	1	0	1	0	0	0	0	1109	1029	36	0	1513	0	ATMIN	16	81077602	Frame_Shift_Del	DEL	GTCCAACGGATGACCATGTACAG	TCGA-IB-A5SO-01A-11D-A32N-08	3721292	81077602	9277151	87	23595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359597.4_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*	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)			14	148					0	0	1	0	0	A	7578263	G	A	7578263	4	1	26	1	0	0	0	0	0	1	0	0	16442	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		7578263	73616947	88	23596											
UBB	7314	broad.mit.edu	37	chr17	16285560	16285560	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggataaagaaggcatcccTcccgaccagcagaggctcat	10	13	1	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:16285560T>C	ENST00000302182.3	+	2	731	c.339T>C	c.(337-339)ccT>ccC	p.P113P	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000578649.1_Intron	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	113	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)		AAGGCATCCCTCCCGACCAGC	0.557													5	312					0	0	1	0	0	C	16285560	T	C	16285560	2	2	26	1	0	0	0	0	0	0	0	1	16902	1538	54	3		3	UBB	17	16285560	Silent	SNP	T	TCGA-IB-A5SO-01A-11D-A32N-08	8707297	16285560	64909650	89	23597											
MYO18A	399687	broad.mit.edu	37	chr17	27493343	27493343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaccacggggggcaggcGcaggtcgactgggaactttt	18	10	0	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:27493343G>A	ENST00000527372.1	-	2	796	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	MYO18A_ENST00000531253.1_Missense_Mutation_p.R206C|MYO18A_ENST00000354329.4_Missense_Mutation_p.R206C|MYO18A_ENST00000533112.1_Missense_Mutation_p.R206C	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	206					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)			GGGGGCAGGCGCAGGTCGACT	0.667													5	328					0	0	1	0	0	A	27493343	G	A	27493343	3	1	26	1	0	0	0	0	1	0	0	0	10113	1087	38	1	5712	1	MYO18A	17	27493343	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	11207783	27493343	53701867	90	23598											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.R168C|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.R168C|MAPT_ENST00000571987.1_Missense_Mutation_p.R168C|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000340799.5_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													5	51					0	0	1	0	0	T	44060672	C	T	44060672	3	4	26	1	0	0	0	0	1	0	0	0	9347	536	19	1	520	1	MAPT	17	44060672	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	16567329	44060672	37134538	91	23599											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000324684.4_Silent_p.D186D|PRPSAP1_ENST00000588364.1_5'UTR	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													31	281					0	0	1	0	0	A	74309083	G	A	74309083	2	1	26	1	0	0	0	0	0	0	0	1	12633	1136	40	1		1	PRPSAP1	17	74309083	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	30248411	74309083	6886127	92	23600											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585328.1_Missense_Mutation_p.V3244I|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)			TAGAAGCGGACGATGTTGATG	0.637													70	732					0	0	1	0	0	T	76455199	C	T	76455199	3	4	26	1	0	0	0	0	1	0	0	0	4629	536	19	1	3727	1	DNAH17	17	76455199	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	2146116	76455199	4740011	93	23601											
TBCD	6904	broad.mit.edu	37	chr17	80828122	80828122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgccgtgatcctgaaggcGctgacctacgacgagaagcg	14	12	0	4			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:80828122G>A	ENST00000355528.4	+	14	1471	c.1341G>A	c.(1339-1341)gcG>gcA	p.A447A	TBCD_ENST00000539345.2_Silent_p.A447A|TBCD_ENST00000397466.2_Silent_p.A61A	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	447					'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)			TCCTGAAGGCGCTGACCTACG	0.632													5	205					0	0	1	0	0	A	80828122	G	A	80828122	2	1	26	1	0	0	0	0	0	0	0	1	15693	1074	38	1		1	TBCD	17	80828122	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	4372923	80828122	367088	94	23602											
LPIN2	9663	broad.mit.edu	37	chr18	2937703	2937703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgattacctttcttctttgaCggcgagtctactttagctgc	8	11	3	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr18:2937703C>T	ENST00000261596.4	-	7	1393	c.1155G>A	c.(1153-1155)ccG>ccA	p.P385P		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	385					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)		TCTTCTTTGACGGCGAGTCTA	0.453													5	164					0	0	1	0	0	T	2937703	C	T	2937703	2	4	26	1	0	0	0	0	0	0	0	1	8964	523	19	1		1	LPIN2	18	2937703	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		2937703	75139545	95	23603											
MBD3	53615	broad.mit.edu	37	chr19	1578372	1578374	+	In_Frame_Del	DEL	CTC	CTC	-													atctccgggtccgggtcgggCtcctcctcctcctcctcctc							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr19:1578372_1578374delCTC	ENST00000590550.2	-	5	1046_1048	c.673_675delGAG	c.(673-675)del	p.E225del	MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	281					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)		CCGGGTCGGGctcctcctcctcc	0.714													7	168	---	---	---	---						-	1578374	CTC	-	1578372	7	5	26	1	0	1	0	1	0	0	0	0	9394	796	28	0	36	0	MBD3	19	1578372	In_Frame_Del	DEL	CTC	TCGA-IB-A5SO-01A-11D-A32N-08		1578372	57550611	96	23604											
MUC16	94025	broad.mit.edu	37	chr19	9014183	9014183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcactgctggtgttgggcGcagaggtctgatgggtgaaa	16	7	2	3			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr19:9014183G>A	ENST00000397910.4	-	32	38668	c.38465C>T	c.(38464-38466)gCg>gTg	p.A12822V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12824				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						GGTGTTGGGCGCAGAGGTCTG	0.532													4	211					0	0	1	0	0	A	9014183	G	A	9014183	3	1	26	1	0	0	0	0	1	0	0	0	10021	1087	38	1	5270	1	MUC16	19	9014183	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	7435811	9014183	50114800	97	23605											
KANK2	25959	broad.mit.edu	37	chr19	11287351	11287351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgccggctggtcttggCcgctgccgtccctgcaggcc	13	18	1	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr19:11287351C>T	ENST00000432929.2	-	7	2047	c.1687G>A	c.(1687-1689)Gcc>Acc	p.A563T	KANK2_ENST00000586659.1_Missense_Mutation_p.A555T|KANK2_ENST00000589894.1_Missense_Mutation_p.A555T|KANK2_ENST00000589359.1_Missense_Mutation_p.A563T|KANK2_ENST00000355150.5_Missense_Mutation_p.A555T	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	555										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTGGTCTTGGCCGCTGCCGTC	0.632													5	473					0	0	1	0	0	T	11287351	C	T	11287351	3	4	26	1	0	0	0	0	1	0	0	0	8021	739	26	2	920	2	KANK2	19	11287351	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	2273168	11287351	47841632	98	23606											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr19:43441294C>T	ENST00000446844.3	-	0	24				PSG7_ENST00000406070.2_RNA|PSG7_ENST00000471557.1_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TTCCTGAGCACGGCTGTCAGC	0.617													21	159					0	0	1	0	0	T	43441294	C	T	43441294	1	4	26	0	1	0	0	0	0	0	0	0	12709	551	19	1		1	PSG7	19	43441294	RNA	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	32153943	43441294	15687689	99	23607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000435956.3_Missense_Mutation_p.E302D|TMEM143_ENST00000541566.1_Missense_Mutation_p.E227D|TMEM143_ENST00000436660.2_Missense_Mutation_p.E272D|TMEM143_ENST00000377431.2_Missense_Mutation_p.E237D	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)	6	53					0	0	1	0	0	G	48837419	C	G	48837419	3	3	26	1	0	0	0	0	1	0	0	0	16117	796	28	5	376	5	TMEM143	19	48837419	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	5396125	48837419	10291564	100	23608											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	66					0	0	1	0	0	T	2397961	C	T	2397961	3	4	26	1	0	0	0	0	1	0	0	0	15894	652	23	1	1458	1	TGM6	20	2397961	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		2397961	60627559	101	23609											
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-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:47741012G>A	ENST00000371828.3	-	7	984	c.497C>T	c.(496-498)gCc>gTc	p.A166V	STAU1_ENST00000371802.1_Missense_Mutation_p.A166V|STAU1_ENST00000340954.7_Missense_Mutation_p.A160V|STAU1_ENST00000371856.2_Missense_Mutation_p.A241V|STAU1_ENST00000360426.4_Missense_Mutation_p.A160V|STAU1_ENST00000347458.5_Missense_Mutation_p.A160V|STAU1_ENST00000371792.1_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													5	443					0	0	1	0	0	A	47741012	G	A	47741012	3	1	26	1	0	0	0	0	1	0	0	0	15328	1203	42	2	1043	2	STAU1	20	47741012	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	45343051	47741012	15284508	102	23610											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000464624.2_3'UTR	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)			4	177					0	0	1	0	0	A	57484421	G	A	57484421	3	1	26	1	0	0	0	0	1	0	0	0	6552	1145	40	1	3449	1	GNAS	20	57484421	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	9743409	57484421	5541099	103	23611											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355631.4_Silent_p.R256R|OPRL1_ENST00000336866.2_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													9	329					0.00621372	0.0063295	1	1	0	A	62729805	C	A	62729805	2	1	26	1	0	0	0	0	0	0	0	1	10934	643	23	4		4	OPRL1	20	62729805	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	5245384	62729805	295715	104	23612											
BAGE2	85319	broad.mit.edu	37	chr21	11058230	11058230	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgaaatcctgaaaggtgtCggctcctgcagcacaaggat	11	10	0	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr21:11058230C>T	ENST00000470054.1	-	0	417									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)		TGAAAGGTGTCGGCTCCTGCA	0.418													6	245					0	0	1	0	0	T	11058230	C	T	11058230	1	4	26	0	1	0	0	0	0	0	0	0	1290	871	31	1		1	BAGE2	21	11058230	RNA	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		11058230	37071665	105	23613											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000336648.3_Silent_p.T477T|HLCS_ENST00000482273.1_5'UTR	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													14	149					0	0	1	0	0	C	38269180	T	C	38269180	2	2	26	1	0	0	0	0	0	0	0	1	7254	1799	63	3		3	HLCS	21	38269180	Silent	SNP	T	TCGA-IB-A5SO-01A-11D-A32N-08	27210950	38269180	9860715	106	23614											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000455784.2_Silent_p.T85T|SEPT5_ENST00000383045.3_Silent_p.T94T|SEPT5_ENST00000406395.1_Silent_p.T85T	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													4	167					0	0	1	0	0	A	19707654	G	A	19707654	2	1	26	1	0	0	0	0	0	0	0	1	14121	1103	39	1		1	SEPT5	22	19707654	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		19707654	31596912	107	23615											
ASCC2	84164	broad.mit.edu	37	chr22	30200688	30200688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactgcctctgctgtcaccGtgaccccgttaggctcccca	9	17	2	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr22:30200688G>A	ENST00000397771.2	-	14	1469	c.1292C>T	c.(1291-1293)aCg>aTg	p.T431M	ASCC2_ENST00000542393.1_Missense_Mutation_p.T355M|ASCC2_ENST00000307790.3_Missense_Mutation_p.T431M			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	431					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)			TGCTGTCACCGTGACCCCGTT	0.562													7	766					0	0	1	0	0	A	30200688	G	A	30200688	3	1	26	1	0	0	0	0	1	0	0	0	1031	1145	40	1	1013	1	ASCC2	22	30200688	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	10493034	30200688	21103878	108	23616											
MED12	9968	broad.mit.edu	37	chrX	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-													cagcagcagtaccacatccgGcagcagcagcagcagcagat							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chrX:70360680_70360682delGCA	ENST00000333646.6	+	42	6448_6450	c.6249_6251delGCA	c.(6247-6252)cgg>cg	p.RQ2083del	MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	2080	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)					accacatccggcagcagcagcag	0.586			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	102	---	---	---	---						-	70360682	GCA	-	70360680	7	5	26	1	0	1	0	1	0	0	0	0	9478	1190	42	0	6406	0	MED12	23	70360680	In_Frame_Del	DEL	GCA	TCGA-IB-A5SO-01A-11D-A32N-08		70360680	84909880	109	23617											
GUCY2F	2986	broad.mit.edu	37	chrX	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-													ggaaggggcttcatgaagccTtttttcccaatcagccagaa							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					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						TCATGAAGCCTTTTTTCCCAA	0.418													7	382	---	---	---	---						-	108619355	T	-	108619355	7	5	26	1	0	1	0	1	0	0	0	0	6939	1606	56	0	142	0	GUCY2F	23	108619355	Frame_Shift_Del	DEL	T	TCGA-IB-A5SO-01A-11D-A32N-08	38258675	108619355	46651205	110	23618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	378					0	0	1	0	0	C	140785682	G	C	140785682	3	2	26	1	0	0	0	0	1	0	0	0	15044	1252	44	5	63	5	SPANXD	23	140785682	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	32166327	140785682	14484878	111	23619											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)tta>tt	p.LQ301del	BRCC3_ENST00000399042.1_In_Frame_Del_p.LQ302del|BRCC3_ENST00000330045.7_In_Frame_Del_p.LQ276del|BRCC3_ENST00000369459.2_In_Frame_Del_p.LQ232del|BRCC3_ENST00000340647.4_In_Frame_Del_p.LQ277del|MTCP1_ENST00000362018.2_Intron	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	301					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													7	168	---	---	---	---						-	154348379	ACA	-	154348377	7	5	26	1	0	1	0	1	0	0	0	0	1502	388	14	0	945	0	BRCC3	23	154348377	In_Frame_Del	DEL	ACA	TCGA-IB-A5SO-01A-11D-A32N-08	13562695	154348377	922183	112	23620											
TMEM50A	23585	broad.mit.edu	37	chr1	25687172	25687172	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctggtttttaagtttggCcgcactgaagacttatggca	13	7	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:25687172C>T	ENST00000374358.4	+	7	1003	c.450C>T	c.(448-450)ggC>ggT	p.G150G	TMEM50A_ENST00000480937.1_3'UTR	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	150						endoplasmic reticulum|integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	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;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		TTAAGTTTGGCCGCACTGAAG	0.413													4	236					0	0	1	0	0	T	25687172	C	T	25687172	2	4	27	1	0	0	0	0	0	0	0	1	16235	726	26	2		2	TMEM50A	1	25687172	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		25687172	223563449	1	23621											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357582.2_Silent_p.T621T|MAP3K6_ENST00000493901.1_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													14	66					0	0	1	0	0	T	27687469	C	T	27687469	2	4	27	1	0	0	0	0	0	0	0	1	9304	871	31	1		1	MAP3K6	1	27687469	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	2000297	27687469	221563152	2	23622											
KIAA0754	643314	broad.mit.edu	37	chr1	39879332	39879332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccccagaggagcccgcctCcccagctgctgcagtgccca	10	20	0	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:39879332C>T	ENST00000530275.1	+	1	3182	c.2987C>T	c.(2986-2988)tCc>tTc	p.S996F	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	996	Ala-rich.									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)			GAGCCCGCCTCCCCAGCTGCT	0.716													5	118					0	0	1	0	0	T	39879332	C	T	39879332	3	4	27	1	0	0	0	0	1	0	0	0	8234	855	30	2	3397	2	KIAA0754	1	39879332	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	12191863	39879332	209371289	3	23623											
C1orf177	163747	broad.mit.edu	37	chr1	55277737	55277737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggagtggtctgggacccGgcacctacttcttcaaaagc	13	11	3	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:55277737G>A	ENST00000358193.3	+	6	691	c.637G>A	c.(637-639)Ggc>Agc	p.G213S	C1orf177_ENST00000371273.3_Missense_Mutation_p.G213S	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	213										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TCTGGGACCCGGCACCTACTT	0.612													6	565					0	0	1	0	0	A	55277737	G	A	55277737	3	1	27	1	0	0	0	0	1	0	0	0	2030	1116	39	1	659	1	C1orf177	1	55277737	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	15398405	55277737	193972884	4	23624											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	408					0	0	1	0	0	T	111216789	C	T	111216789	3	4	27	1	0	0	0	0	1	0	0	0	8048	884	31	1	1088	1	KCNA3	1	111216789	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	55939052	111216789	138033832	5	23625											
RPTN	126638	broad.mit.edu	37	chr1	152128186	152128186	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtctgtctgtctgaccAtagtgggaactctggccttg	11	11	4	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	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						CTGTCTGACCATAGTGGGAAC	0.512													13	2509					0	0	1	0	0	G	152128186	A	G	152128186	2	3	27	1	0	0	0	0	0	0	0	1	13716	224	8	3		3	RPTN	1	152128186	Silent	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08	40911397	152128186	97122435	6	23626											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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													8	1158					0	0	1	0	0	A	152327955	G	A	152327955	2	1	27	1	0	0	0	0	0	0	0	1	5956	962	34	2		2	FLG2	1	152327955	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	199769	152327955	96922666	7	23627											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	14	12	0	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		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)			gctgctgttgctgctgctgct	0.642													6	277					0	0	1	0	0	T	153907309	C	T	153907309	2	4	27	1	0	0	0	0	0	0	0	1	4462	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	1579354	153907309	95343312	8	23628											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:183885789G>A	ENST00000304685.3	+	17	2524	c.2063G>A	c.(2062-2064)cGc>cAc	p.R688H	RGL1_ENST00000536277.1_Missense_Mutation_p.R651H|RGL1_ENST00000367531.1_Missense_Mutation_p.R688H|RGL1_ENST00000539189.1_Missense_Mutation_p.R624H|RGL1_ENST00000360851.3_Missense_Mutation_p.R653H	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	653	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													5	296					0	0	1	0	0	A	183885789	G	A	183885789	3	1	27	1	0	0	0	0	1	0	0	0	13328	1087	38	1	2125	1	RGL1	1	183885789	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	29978480	183885789	65364832	9	23629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	166					0	0	1	0	0	G	185892601	C	G	185892601	3	3	27	1	0	0	0	0	1	0	0	0	7261	903	32	5	1131	5	HMCN1	1	185892601	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	2006812	185892601	63358020	10	23630											
PRG4	10216	broad.mit.edu	37	chr1	186276474	186276474	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcctgcacccaccacTaccaagtctgcacccaccac	6	19	1	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:186276474T>C	ENST00000445192.2	+	7	1668	c.1623T>C	c.(1621-1623)acT>acC	p.T541T	PRG4_ENST00000367485.4_Silent_p.T448T|PRG4_ENST00000367486.3_Silent_p.T498T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T500T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	541	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						CACCCACCACTACCAAGTCTG	0.637													7	453					0	0	1	0	0	C	186276474	T	C	186276474	2	2	27	1	0	0	0	0	0	0	0	1	12533	1509	53	3		3	PRG4	1	186276474	Silent	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08	383873	186276474	62974147	11	23631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													108	99					3.17147e-52	3.48445e-52	1	1	0	A	202702804	C	A	202702804	3	1	27	1	0	0	0	0	1	0	0	0	8177	623	22	2	1020	2	KDM5B	1	202702804	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	16426330	202702804	46547817	12	23632											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			86	248					0	0	1	0	0	C	215933091	T	C	215933091	2	2	27	1	0	0	0	0	0	0	0	1	17096	1490	52	3		3	USH2A	1	215933091	Silent	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08	13230287	215933091	33317530	13	23633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:242253380G>C	ENST00000442594.2	-	11	1620	c.1111C>G	c.(1111-1113)Cag>Gag	p.Q371E	PLD5_ENST00000536534.1_Missense_Mutation_p.Q463E|PLD5_ENST00000427495.1_Missense_Mutation_p.Q401E	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	463						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													97	220					0	0	1	0	0	C	242253380	G	C	242253380	3	2	27	1	0	0	0	0	1	0	0	0	12097	1299	45	5	227	5	PLD5	1	242253380	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	26320289	242253380	6997241	14	23634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355875.4_Intron|SDCCAG8_ENST00000343783.6_Silent_p.D64D|SDCCAG8_ENST00000391846.1_Silent_p.D209D	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													7	299					0	0	1	0	0	T	243456473	C	T	243456473	2	4	27	1	0	0	0	0	0	0	0	1	14013	477	17	2		2	SDCCAG8	1	243456473	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	1203093	243456473	5794148	15	23635											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	668					1.08611e-07	1.14797e-07	1	1	0	A	248637216	C	A	248637216	3	1	27	1	0	0	0	0	1	0	0	0	11071	680	24	2	567	2	OR2T3	1	248637216	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	5180743	248637216	613405	16	23636											
SOX11	6664	broad.mit.edu	37	chr2	5833526	5833528	+	In_Frame_Del	DEL	GAC	GAC	-													agtgcgtgtttctggatgagGacgacgacgacgacgacgac							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:5833526_5833528delGAC	ENST00000322002.3	+	1	728_730	c.673_675delGAC	c.(673-675)del	p.D233del		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	233	Poly-Asp.				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)		TCTGGATGAGgacgacgacgacg	0.7													7	126	---	---	---	---						-	5833528	GAC	-	5833526	7	5	27	1	0	1	0	1	0	0	0	0	14996	1174	41	0	675	0	SOX11	2	5833526	In_Frame_Del	DEL	GAC	TCGA-IB-A5SP-01A-11D-A32N-08		5833526	237365847	17	23637											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395826.2_Silent_p.S4S|POMC_ENST00000380794.1_Silent_p.S4S|POMC_ENST00000264708.3_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													6	308					0	0	1	0	0	T	25387630	C	T	25387630	2	4	27	1	0	0	0	0	0	0	0	1	12290	523	19	1		1	POMC	2	25387630	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	19554104	25387630	217811743	18	23638											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	258					0	0	1	0	0	A	27121503	G	A	27121503	3	1	27	1	0	0	0	0	1	0	0	0	4776	1348	47	2	138	2	DPYSL5	2	27121503	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	1733873	27121503	216077870	19	23639											
C2orf16	84226	broad.mit.edu	37	chr2	27804477	27804477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcccagaggagccatcgcGgtccctcagagagaagccat	11	15	1	3	rs112465116		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:27804477G>A	ENST00000408964.2	+	1	5089	c.5038G>A	c.(5038-5040)Ggt>Agt	p.G1680S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1680	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)					GAGCCATCGCGGTCCCTCAGA	0.572													6	974					0	0	1	0	0	A	27804477	G	A	27804477	3	1	27	1	0	0	0	0	1	0	0	0	2171	1116	39	1	5040	1	C2orf16	2	27804477	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	682974	27804477	215394896	20	23640											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000281923.2_Missense_Mutation_p.M27V|MGAT5_ENST00000468758.1_3'UTR			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													61	105					0	0	1	0	0	G	135012053	A	G	135012053	3	3	27	1	0	0	0	0	1	0	0	0	9598	449	16	3	81	3	MGAT5	2	135012053	Missense_Mutation	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08	107207576	135012053	108187320	21	23641											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:166171996G>A	ENST00000357398.3	+	11	1689	c.1399G>A	c.(1399-1401)Gca>Aca	p.A467T	SCN2A_ENST00000283256.6_Missense_Mutation_p.A467T|SCN2A_ENST00000375437.2_Missense_Mutation_p.A467T|SCN2A_ENST00000375427.2_Missense_Mutation_p.A467T			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													10	316					0	0	1	0	0	A	166171996	G	A	166171996	3	1	27	1	0	0	0	0	1	0	0	0	13970	1087	38	1	1533	1	SCN2A	2	166171996	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	31159943	166171996	77027377	22	23642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)gagfs	p.E377fs		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													42	63	---	---	---	---						A	167313540	-	A	167313539	7	5	27	1	0	1	1	0	0	0	0	0	13977	1741	61	0	3981	0	SCN7A	2	167313539	Frame_Shift_Ins	INS	-	TCGA-IB-A5SP-01A-11D-A32N-08	1141543	167313539	75885834	23	23643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I15985N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I15793N|TTN_ENST00000359218.5_Missense_Mutation_p.I15918N|TTN_ENST00000342992.6_Missense_Mutation_p.I22290N|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I23217N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_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													39	90					0	0	1	0	0	T	179436286	A	T	179436286	3	4	27	1	0	0	0	0	1	0	0	0	16797	101	4	5	33554	5	TTN	2	179436286	Missense_Mutation	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08	12122747	179436286	63763087	24	23644											
TTN	7273	broad.mit.edu	37	chr2	179638797	179638797	+	Frame_Shift_Del	DEL	T	T	-													acaatgtcaccctcacagacTttttggtcactaagtccttg							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:179638797delT	ENST00000589042.1	-	31	7322	c.7098delA	c.(7096-7098)aafs	p.K2366fs	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.K2320fs|TTN_ENST00000591111.1_Frame_Shift_Del_p.K2366fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.K2366fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.K2320fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.K2320fs|TTN_ENST00000360870.5_Frame_Shift_Del_p.K2366fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2088	Ig-like 13.						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)			CCTCACAGACTTTTTGGTCAC	0.428													7	484	---	---	---	---						-	179638797	T	-	179638797	7	5	27	1	0	1	0	1	0	0	0	0	16797	1606	56	0	104218	0	TTN	2	179638797	Frame_Shift_Del	DEL	T	TCGA-IB-A5SP-01A-11D-A32N-08	202511	179638797	63560576	25	23645											
SGOL2	151246	broad.mit.edu	37	chr2	201437003	201437004	+	Frame_Shift_Ins	INS	-	-	T													catggcctaaaaaaaggtaaINStttttttttcaaaacccaag							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:201437003_201437004insT	ENST00000357799.4	+	7	2032_2033	c.1934_1935insT	c.(1933-1935)attfs	p.I645fs		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)	645					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						AAAAAAGGTAATTTTTTTTTCA	0.337													8	407	---	---	---	---						T	201437004	-	T	201437003	7	5	27	1	0	1	1	0	0	0	0	0	14271	101	4	0	1956	0	SGOL2	2	201437003	Frame_Shift_Ins	INS	-	TCGA-IB-A5SP-01A-11D-A32N-08	21798206	201437003	41762370	26	23646											
IRS1	3667	broad.mit.edu	37	chr2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-													ctctggagggtgcagcaaggGctgctgctgctgctgctgct							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:227660808_227660810delGCT	ENST00000305123.4	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)ccc>c	p.QP882del		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				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)		TGCAGCAAGGgctgctgctgctg	0.626													11	363	---	---	---	---						-	227660810	GCT	-	227660808	7	5	27	1	0	1	0	1	0	0	0	0	7884	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-IB-A5SP-01A-11D-A32N-08	26223805	227660808	15538565	27	23647											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	77					0	0	1	0	0	T	237103689	C	T	237103689	2	4	27	1	0	0	0	0	0	0	0	1	1021	523	19	1		1	ASB18	2	237103689	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	9442881	237103689	6095684	28	23648											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438237.2_Missense_Mutation_p.A219V|OSBPL10_ENST00000467647.1_5'UTR	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													5	415					0	0	1	0	0	A	31789494	G	A	31789494	3	1	27	1	0	0	0	0	1	0	0	0	11322	971	34	2	1478	2	OSBPL10	3	31789494	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		31789494	166232936	29	23649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	501					0	0	1	0	0	T	49738081	C	T	49738081	3	4	27	1	0	0	0	0	1	0	0	0	13485	759	27	1	1270	1	RNF123	3	49738081	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	17948587	49738081	148284349	30	23650											
EBLN2	55096	broad.mit.edu	37	chr3	73111481	73111482	+	Frame_Shift_Ins	INS	-	-	A													ttgagctatctgggaaaaacINSagacagtatccactggatgc					rs147131789	by1000genomes	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:73111481_73111482insA	ENST00000533473.1	+	1	672_673	c.249_250insA	c.(247-252)aagacafs	p.T84fs	PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	84							protein binding			endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						CTGGGAAAAACAGACAGTATCC	0.48													13	38	---	---	---	---						A	73111482	-	A	73111481	7	5	27	1	0	1	1	0	0	0	0	0	4910	477	17	0	251	0	EBLN2	3	73111481	Frame_Shift_Ins	INS	-	TCGA-IB-A5SP-01A-11D-A32N-08	23373400	73111481	124910949	31	23651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)agfs	p.NNK445fs	MECOM_ENST00000460814.1_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.NNK446fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.NNK510fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.NNK633fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.NNK446fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.NNK445fs	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													77	158	---	---	---	---						-	168833762	TTATTAT	-	168833756	7	5	27	1	0	1	0	1	0	0	0	0	9472	1609	56	0	1855	0	MECOM	3	168833756	Frame_Shift_Del	DEL	TTATTAT	TCGA-IB-A5SP-01A-11D-A32N-08	95722275	168833756	29188674	32	23652											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000473233.1_Silent_p.S352S|MCF2L2_ENST00000414362.2_Silent_p.S352S|MCF2L2_ENST00000447025.2_Silent_p.S352S	NM_015078.2	NP_055893.2	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													8	321					0	0	1	0	0	A	183027561	G	A	183027561	2	1	27	1	0	0	0	0	0	0	0	1	9430	1078	38	1		1	MCF2L2	3	183027561	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	14193805	183027561	14994869	33	23653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	276					0	0	1	0	0	A	195965646	G	A	195965646	2	1	27	1	0	0	0	0	0	0	0	1	11657	1103	39	1		1	PCYT1A	3	195965646	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	12938085	195965646	2056784	34	23654											
GNPDA2	132789	broad.mit.edu	37	chr4	44724119	44724120	+	Frame_Shift_Ins	INS	-	-	A													cctgttggtaaacccagtgtINSaaaatatctgtcctgtccag							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:44724119_44724120insA	ENST00000509756.1	-	2	211_212	c.105_106insT	c.(103-108)ttcactfs	p.T36fs	GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000507917.1_Frame_Shift_Ins_p.T36fs|GNPDA2_ENST00000295448.3_Frame_Shift_Ins_p.T36fs|GNPDA2_ENST00000507534.1_Intron			Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	36					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						AAACCCAGTGTAAAATATCTGT	0.332													70	72	---	---	---	---						A	44724120	-	A	44724119	7	5	27	1	0	1	1	0	0	0	0	0	6585	1638	57	0	748	0	GNPDA2	4	44724119	Frame_Shift_Ins	INS	-	TCGA-IB-A5SP-01A-11D-A32N-08		44724119	146430157	35	23655											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	252					0	0	1	0	0	C	80328648	G	C	80328648	3	2	27	1	0	0	0	0	1	0	0	0	6463	942	33	5	958	5	GK2	4	80328648	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	35604529	80328648	110825628	36	23656											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	209					0	0	1	0	0	C	100460491	T	C	100460491	3	2	27	1	0	0	0	0	1	0	0	0	2267	1696	59	3	822	3	C4orf17	4	100460491	Missense_Mutation	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08	20131843	100460491	90693785	37	23657											
RAB33B	83452	broad.mit.edu	37	chr4	140375591	140375591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggagattgatggggagcGcatcaaggtgagcggatggg	21	4	1	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:140375591G>A	ENST00000305626.5	+	1	631	c.242G>A	c.(241-243)cGc>cAc	p.R81H		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	81					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					GATGGGGAGCGCATCAAGGTG	0.652													4	82					0	0	1	0	0	A	140375591	G	A	140375591	3	1	27	1	0	0	0	0	1	0	0	0	12975	1087	38	1	244	1	RAB33B	4	140375591	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	39915100	140375591	50778685	38	23658											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gat>g	p.AD153del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						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)					CCATTCACATCAGCAGCAGCAGC	0.34													9	213	---	---	---	---						-	146077125	CAG	-	146077123	7	5	27	1	0	1	0	1	0	0	0	0	11361	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-IB-A5SP-01A-11D-A32N-08	5701532	146077123	45077153	39	23659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000457752.2_Intron|C5orf38_ENST00000505778.1_Missense_Mutation_p.E95K|C5orf38_ENST00000334000.3_Missense_Mutation_p.E95K|C5orf38_ENST00000397835.4_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													5	533					0	0	1	0	0	A	2752818	G	A	2752818	3	1	27	1	0	0	0	0	1	0	0	0	2311	1059	37	1	289	1	C5orf38	5	2752818	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		2752818	178162442	40	23660											
EPB41L4A	64097	broad.mit.edu	37	chr5	111500707	111500707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtctctgtcttgaggcGggaagcttgtatagttttta	11	6	3	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:111500707G>A	ENST00000261486.5	-	23	2317	c.2041C>T	c.(2041-2043)Cgc>Tgc	p.R681C	EPB41L4A_ENST00000507810.1_Intron	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	681						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)		GTCTTGAGGCGGGAAGCTTGT	0.438													5	260					0	0	1	0	0	A	111500707	G	A	111500707	3	1	27	1	0	0	0	0	1	0	0	0	5183	1116	39	1	23	1	EPB41L4A	5	111500707	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	108747889	111500707	69414553	41	23661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													212	352					0	0	1	0	0	A	128983486	G	A	128983486	3	1	27	1	0	0	0	0	1	0	0	0	263	1000	35	2	1929	2	ADAMTS19	5	128983486	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	17482779	128983486	51931774	42	23662											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378133.3_Silent_p.N238N|PCDHA1_ENST00000394633.3_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													136	221					0	0	1	0	0	T	140166589	C	T	140166589	2	4	27	1	0	0	0	0	0	0	0	1	11566	535	19	1		1	PCDHA1	5	140166589	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	11183103	140166589	40748671	43	23663											
PCDHB7	0	broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	16	13	0	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		526	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A526A(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)			CCCTGCAGGCGTTCGAGTTCC	0.706													6	595					3.07112e-06	3.18557e-06	1	1	0	T	140553994	G	T	140553994	2	4	27	1	0	0	0	0	0	0	0	1	11594	1132	40	4		4	PCDHB7	5	140553994	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	387405	140553994	40361266	44	23664											
ARAP3	64411	broad.mit.edu	37	chr5	141051740	141051740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggaggacccacagtccGcacactgccggttggcccga	15	15	0	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:141051740G>A	ENST00000239440.4	-	10	1579	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V|ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	505	Arf-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						CCCACAGTCCGCACACTGCCG	0.612													7	1029					0	0	1	0	0	A	141051740	G	A	141051740	3	1	27	1	0	0	0	0	1	0	0	0	837	1087	38	1	3216	1	ARAP3	5	141051740	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	497746	141051740	39863520	45	23665											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:177688748C>A	ENST00000390654.3	-	11	1034	c.675_splice	c.e11-1	p.G226_splice	COL23A1_ENST00000407622.1_Splice_Site_p.G190_splice	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													117	181					3.04319e-57	3.36565e-57	1	1	0	A	177688748	C	A	177688748	5	1	27	1	0	0	0	0	0	0	1	0	3705	753	26	2	1021	2	COL23A1	5	177688748	Splice_Site	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	36637008	177688748	3226512	46	23666											
BTNL8	79908	broad.mit.edu	37	chr5	180374632	180374633	+	Frame_Shift_Del	DEL	GA	GA	-													ctccaaattccagtgtaagcGagagagagaagcatgggccg							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:180374632_180374633delGA	ENST00000231229.4	+	4	1028_1029	c.794_795delGA	c.(793-795)cfs	p.R265fs	BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000505126.1_Intron	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	265						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)			CAGTGTAAGCGAGAGAGAGAAG	0.495													10	1358	---	---	---	---						-	180374633	GA	-	180374632	7	5	27	1	0	1	0	1	0	0	0	0	1570	1058	37	0	834	0	BTNL8	5	180374632	Frame_Shift_Del	DEL	GA	TCGA-IB-A5SP-01A-11D-A32N-08	2685884	180374632	540628	47	23667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:7230570delC	ENST00000379938.2	+	10	2775	c.2238delC	c.(2236-2238)gafs	p.D746fs	RREB1_ENST00000334984.6_Frame_Shift_Del_p.D746fs|RREB1_ENST00000379933.3_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													126	93	---	---	---	---						-	7230570	C	-	7230570	7	5	27	1	0	1	0	1	0	0	0	0	13731	535	19	0	2264	0	RREB1	6	7230570	Frame_Shift_Del	DEL	C	TCGA-IB-A5SP-01A-11D-A32N-08		7230570	163884497	48	23668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	206					1.50039e-11	1.60619e-11	1	1	0	T	26124800	G	T	26124800	3	4	27	1	0	0	0	0	1	0	0	0	7171	1203	42	2	342	2	HIST1H2AC	6	26124800	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	18894230	26124800	144990267	49	23669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330430.6_Missense_Mutation_p.P144L|RCAN2_ENST00000306764.7_Missense_Mutation_p.P190L|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													4	116					0	0	1	0	0	A	46214487	G	A	46214487	3	1	27	1	0	0	0	0	1	0	0	0	13221	1348	47	2	170	2	RCAN2	6	46214487	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	20089687	46214487	124900580	50	23670											
PEX3	8504	broad.mit.edu	37	chr6	143792154	143792154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgctggttgttcttttgCgggtccagttaaacataatt	10	6	1	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:143792154C>T	ENST00000367591.4	+	5	451	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	130	Interaction with PEX19.				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding	p.R130W(1)		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)		TGTTCTTTTGCGGGTCCAGTT	0.363													5	158					0	0	1	0	0	T	143792154	C	T	143792154	3	4	27	1	0	0	0	0	1	0	0	0	11795	759	27	1	406	1	PEX3	6	143792154	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	97577667	143792154	27322913	51	23671											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P1025A	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													98	274					0	0	1	0	0	G	146755420	C	G	146755420	3	3	27	1	0	0	0	0	1	0	0	0	6837	855	30	5	3168	5	GRM1	6	146755420	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	2963266	146755420	24359647	52	23672											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:18668998G>A	ENST00000406451.3	+	7	831	c.681G>A	c.(679-681)cgG>cgA	p.R227R	HDAC9_ENST00000524023.1_Intron|HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000456174.2_Silent_p.R199R|HDAC9_ENST00000441542.2_Silent_p.R230R|HDAC9_ENST00000432645.2_Silent_p.R227R|HDAC9_ENST00000405010.3_Silent_p.R227R|HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000406072.1_Intron	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	227	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													26	46					0	0	1	0	0	A	18668998	G	A	18668998	2	1	27	1	0	0	0	0	0	0	0	1	7055	1248	44	2		2	HDAC9	7	18668998	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		18668998	140469665	53	23673											
ELN	2006	broad.mit.edu	37	chr7	73474290	73474290	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggctcctggagttggcTtggctcctggagttggcgtg	18	8	0	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:73474290T>G	ENST00000252034.7	+	23	1888	c.1489T>G	c.(1489-1491)Ttg>Gtg	p.L497V	ELN_ENST00000414324.1_Missense_Mutation_p.L473V|ELN_ENST00000380553.4_Missense_Mutation_p.L361V|ELN_ENST00000380562.4_Missense_Mutation_p.L503V|ELN_ENST00000458204.1_Missense_Mutation_p.L487V|ELN_ENST00000380584.4_Missense_Mutation_p.L464V|ELN_ENST00000357036.5_Missense_Mutation_p.L502V|ELN_ENST00000320399.6_Missense_Mutation_p.L497V|ELN_ENST00000320492.7_Missense_Mutation_p.L416V|ELN_ENST00000445912.1_Missense_Mutation_p.L497V|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Missense_Mutation_p.L483V|ELN_ENST00000358929.4_Missense_Mutation_p.L532V|ELN_ENST00000380575.4_Missense_Mutation_p.L468V|ELN_ENST00000380576.5_Missense_Mutation_p.L478V	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	526	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)	TGGAGTTGGCTTGGCTCCTGG	0.607			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						168	598					0	0	1	0	0	G	73474290	T	G	73474290	3	3	27	1	0	0	0	0	1	0	0	0	5099	1606	56	3	1594	3	ELN	7	73474290	Missense_Mutation	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08	54805292	73474290	85664373	54	23674											
DTX2	113878	broad.mit.edu	37	chr7	76111833	76111833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgaaaataggcaccatgCgggctgtgcggagacacctg	13	10	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:76111833C>T	ENST00000324432.5	+	5	787	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000446600.1_Missense_Mutation_p.R2W|DTX2_ENST00000430490.2_Missense_Mutation_p.R93W|DTX2_ENST00000307569.8_Missense_Mutation_p.R93W|DTX2_ENST00000446820.2_Missense_Mutation_p.R93W|DTX2_ENST00000413936.2_Missense_Mutation_p.R93W	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	93	WWE 1.				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						AGGCACCATGCGGGCTGTGCG	0.522													6	470					0	0	1	0	0	T	76111833	C	T	76111833	3	4	27	1	0	0	0	0	1	0	0	0	4820	759	27	1	283	1	DTX2	7	76111833	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	2637543	76111833	83026830	55	23675											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:134849251C>A	ENST00000275767.2	+	2	281	c.58C>A	c.(58-60)Ctc>Atc	p.L20I	C7orf49_ENST00000459937.1_Intron	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	20						integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						CATCATAGTCCTCGTGATTGT	0.582													5	486					1.23904e-05	1.26945e-05	1	1	0	A	134849251	C	A	134849251	3	1	27	1	0	0	0	0	1	0	0	0	16115	681	24	2	60	2	TMEM140	7	134849251	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	58737418	134849251	24289412	56	23676											
KCNU1	157855	broad.mit.edu	37	chr8	36768517	36768518	+	Frame_Shift_Ins	INS	-	-	C													ctccatgtgtgctgtcttgtINScccccccaccccagccatca							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:36768517_36768518insC	ENST00000399881.3	+	22	2438_2439	c.2401_2402insC	c.(2401-2403)cccfs	p.P801fs		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	801						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)		TGCTGTCTTGTCCCCCCCACCC	0.525													10	416	---	---	---	---						C	36768518	-	C	36768517	7	5	27	1	0	1	1	0	0	0	0	0	8137	1667	58	0	2487	0	KCNU1	8	36768517	Frame_Shift_Ins	INS	-	TCGA-IB-A5SP-01A-11D-A32N-08		36768517	109595505	57	23677											
COL22A1	169044	broad.mit.edu	37	chr8	139727970	139727970	+	Frame_Shift_Del	DEL	T	T	-													cctggaagtcccagttcaccTttttctccctataataaaag							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:139727970delT	ENST00000303045.6	-	30	2918	c.2472delA	c.(2470-2472)aafs	p.K824fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K824fs|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	824	Collagen-like 6.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.K824>?(1)|p.K824N(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)			CCAGTTCACCTTTTTCTCCCT	0.383										HNSCC(7;0.00092)			7	464	---	---	---	---						-	139727970	T	-	139727970	7	5	27	1	0	1	0	1	0	0	0	0	3704	1606	56	0	2552	0	COL22A1	8	139727970	Frame_Shift_Del	DEL	T	TCGA-IB-A5SP-01A-11D-A32N-08	102959453	139727970	6636052	58	23678											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377675.3_Missense_Mutation_p.T319I|CYP11B1_ENST00000517471.1_Missense_Mutation_p.T248I	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				7	134					0	0	1	0	0	A	143958154	G	A	143958154	3	1	27	1	0	0	0	0	1	0	0	0	4168	1261	44	2	792	2	CYP11B1	8	143958154	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	4230184	143958154	2405868	59	23679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376730.4_Silent_p.V261V|GCNT1_ENST00000536223.1_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													91	246					0	0	1	0	0	T	79118080	C	T	79118080	2	4	27	1	0	0	0	0	0	0	0	1	6340	871	31	1		1	GCNT1	9	79118080	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		79118080	62095351	60	23680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	424					0	0	1	0	0	A	79323756	G	A	79323756	3	1	27	1	0	0	0	0	1	0	0	0	12690	1087	38	1	5880	1	PRUNE2	9	79323756	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	205676	79323756	61889675	61	23681											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													147	213					0	0	1	0	0	A	115759599	G	A	115759599	1	1	27	0	1	0	0	0	0	0	0	0	18241	1145	40	1		1	ZNF883	9	115759599	RNA	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	36435843	115759599	25453832	62	23682											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340094.3_Missense_Mutation_p.R1665H|TNC_ENST00000542877.1_Missense_Mutation_p.R1666H|TNC_ENST00000537320.1_Missense_Mutation_p.R1392H|TNC_ENST00000341037.4_Missense_Mutation_p.R1847H|TNC_ENST00000535648.1_Missense_Mutation_p.R1574H|TNC_ENST00000346706.3_Missense_Mutation_p.R1483H|TNC_ENST00000345230.3_Missense_Mutation_p.R1392H|TNC_ENST00000423613.2_Missense_Mutation_p.R1756H	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													6	443					0	0	1	0	0	T	117791722	C	T	117791722	3	4	27	1	0	0	0	0	1	0	0	0	16330	768	27	1	535	1	TNC	9	117791722	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	2032123	117791722	23421709	63	23683											
SDCCAG3	10807	broad.mit.edu	37	chr9	139301658	139301658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagactctccatgaaccGcaaagtctgcgctaggactc	9	14	2	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:139301658G>A	ENST00000298537.7	-	4	900	c.689C>T	c.(688-690)gCg>gTg	p.A230V	SDCCAG3_ENST00000371725.3_Missense_Mutation_p.A180V|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.A253V	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	253						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TCCATGAACCGCAAAGTCTGC	0.627													5	198					0	0	1	0	0	A	139301658	G	A	139301658	3	1	27	1	0	0	0	0	1	0	0	0	14012	1087	38	1	573	1	SDCCAG3	9	139301658	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	21509936	139301658	1911773	64	23684											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346208.3_Missense_Mutation_p.S230R|GATA3_ENST00000461472.1_3'UTR	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)"						74	303					1.08321e-29	1.16707e-29	1	1	0	A	8100716	C	A	8100716	3	1	27	1	0	0	0	0	1	0	0	0	6295	796	28	2	696	2	GATA3	10	8100716	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		8100716	127434031	65	23685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361849.3_Missense_Mutation_p.R577W|PCDH15_ENST00000395438.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395446.1_Missense_Mutation_p.R577W|PCDH15_ENST00000437009.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.R577W|PCDH15_ENST00000414778.1_Missense_Mutation_p.R582W|PCDH15_ENST00000373957.3_Missense_Mutation_p.R555W|PCDH15_ENST00000395432.2_Missense_Mutation_p.R540W|PCDH15_ENST00000395433.1_Missense_Mutation_p.R555W|PCDH15_ENST00000409834.1_Missense_Mutation_p.R188W|PCDH15_ENST00000320301.6_Missense_Mutation_p.R577W|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395445.1_Missense_Mutation_p.R584W	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)			114	176					0	0	1	0	0	A	55912915	G	A	55912915	3	1	27	1	0	0	0	0	1	0	0	0	11558	1086	38	1	5837	1	PCDH15	10	55912915	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	47812199	55912915	79621832	66	23686											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440381.1_Missense_Mutation_p.D139Y|P4HA1_ENST00000263556.3_Missense_Mutation_p.D139Y|P4HA1_ENST00000394890.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000307116.2_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													202	305					2.7e-89	3.006e-89	1	1	0	A	74828652	C	A	74828652	3	1	27	1	0	0	0	0	1	0	0	0	11403	855	30	2	1308	2	P4HA1	10	74828652	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	18915737	74828652	60706095	67	23687											
MMRN2	79812	broad.mit.edu	37	chr10	88704020	88704020	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctagagcctgccactcaccGtgccctgtttgatttgcttc	8	15	1	2	rs140040286		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:88704020G>A	ENST00000372027.4	-	5	727	c.655_splice	c.e5+1	p.H218_splice		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	218						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GCCACTCACCGTGCCCTGTTT	0.617													6	945					0	0	1	0	0	A	88704020	G	A	88704020	5	1	27	1	0	0	0	0	0	0	1	0	9720	1159	40	1	2207	1	MMRN2	10	88704020	Splice_Site	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	13875368	88704020	46830727	68	23688											
CPXM2	119587	broad.mit.edu	37	chr10	125530495	125530495	+	Frame_Shift_Del	DEL	T	T	-													cagcttcaggccctggtggcTttttccaatgttgtaaattc							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:125530495delT	ENST00000241305.3	-	8	1193	c.1039delA	c.(1039-1041)gcfs	p.S347fs	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	347					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)		CCCTGGTGGCTTTTTCCAATG	0.458													7	1243	---	---	---	---						-	125530495	T	-	125530495	7	5	27	1	0	1	0	1	0	0	0	0	3861	1609	56	0	1259	0	CPXM2	10	125530495	Frame_Shift_Del	DEL	T	TCGA-IB-A5SP-01A-11D-A32N-08	36826475	125530495	10004252	69	23689											
CDHR5	53841	broad.mit.edu	37	chr11	618833	618833	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catcggctgagaggttcctgGctctggggtctgtgctgtgc	16	10	2	1	rs139058512	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:618833G>C	ENST00000358353.3	-	14	2048	c.1726C>G	c.(1726-1728)Cca>Gca	p.P576A	CDHR5_ENST00000397542.2_Missense_Mutation_p.P576A|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	576	4 X 31 AA approximate tandem repeats.				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						GAGGTTCCTGGCTCTGGGGTC	0.667													7	1024					0	0	1	0	0	C	618833	G	C	618833	3	2	27	1	0	0	0	0	1	0	0	0	3144	1203	42	5	823	5	CDHR5	11	618833	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		618833	134387683	70	23690											
OR52N1	79473	broad.mit.edu	37	chr11	5809643	5809643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaattagtgaggatggtgGcataacgcagagggaagcag	16	5	0	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:5809643G>A	ENST00000317078.1	-	1	403	c.404C>T	c.(403-405)gCc>gTc	p.A135V	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		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)		GAGGATGGTGGCATAACGCAG	0.517													5	380					0	0	1	0	0	A	5809643	G	A	5809643	3	1	27	1	0	0	0	0	1	0	0	0	11175	1203	42	2	561	2	OR52N1	11	5809643	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	5190810	5809643	129196873	71	23691											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													76	448					0	0	1	0	0	A	19077764	G	A	19077764	2	1	27	1	0	0	0	0	0	0	0	1	9816	1136	40	1		1	MRGPRX2	11	19077764	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	13268121	19077764	115928752	72	23692											
SYT13	57586	broad.mit.edu	37	chr11	45307687	45307687	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacacaggcaggtgaccccGcacaacgcgaggatgctggt	14	13	0	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:45307687G>A	ENST00000020926.3	-	1	183	c.72C>T	c.(70-72)tgC>tgT	p.C24C		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													3	39					0	0	1	0	0	A	45307687	G	A	45307687	2	1	27	1	0	0	0	0	0	0	0	1	15526	1079	38	1		1	SYT13	11	45307687	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	26229923	45307687	89698829	73	23693											
OR8K1	390157	broad.mit.edu	37	chr11	56113860	56113860	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctttgagattttcatcatcTctgagctctttattctatca	4	9	7	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:56113860T>A	ENST00000279783.2	+	1	440	c.346T>A	c.(346-348)Tct>Act	p.S116T		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	116					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)					TTTCATCATCTCTGAGCTCTT	0.403										HNSCC(65;0.19)			5	748					0	0	1	0	0	A	56113860	T	A	56113860	3	1	27	1	0	0	0	0	1	0	0	0	11290	1551	54	5	348	5	OR8K1	11	56113860	Missense_Mutation	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08	10806173	56113860	78892656	74	23694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000430323.2_Silent_p.G879G|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Silent_p.G578G	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													31	222					0	0	1	0	0	C	82645017	A	C	82645017	2	2	27	1	0	0	0	0	0	0	0	1	1670	320	12	3		3	C11orf82	11	82645017	Silent	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08	26531157	82645017	52361499	75	23695											
TMPRSS13	84000	broad.mit.edu	37	chr11	117789465	117789465	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgggctggagatgcctggGctggagatgcccggcctgga	18	11	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:117789465G>C	ENST00000528626.1	-	2	183	c.110C>G	c.(109-111)gCc>gGc	p.A37G	TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A37G|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.A37G|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A37G|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A37G	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	37	12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		AGATGCCTGGGCTGGAGATGC	0.632													5	446					0	0	1	0	0	C	117789465	G	C	117789465	3	2	27	1	0	0	0	0	1	0	0	0	16305	1203	42	5	1641	5	TMPRSS13	11	117789465	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	35144448	117789465	17217051	76	23696											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399606.1_Missense_Mutation_p.T1095M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1075M|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T1095M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1100M|CACNA1C_ENST00000399638.1_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													49	50					0	0	1	0	0	T	2716164	C	T	2716164	3	4	27	1	0	0	0	0	1	0	0	0	2558	536	19	1	3498	1	CACNA1C	12	2716164	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		2716164	131135731	77	23697											
TEAD4	7004	broad.mit.edu	37	chr12	3126693	3126693	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcccagcagtctcagggGtaagtgggctgccgagagct	16	12	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:3126693G>A	ENST00000359864.2	+	6	673		c.e6+1		TEAD4_ENST00000358409.2_Intron|TEAD4_ENST00000397122.2_Splice_Site	NM_003213.3	NP_003204.2	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)			AGTCTCAGGGGTAAGTGGGCT	0.652													3	59					0	0	1	0	0	A	3126693	G	A	3126693	5	1	27	1	0	0	0	0	0	0	1	0	15800	1275	44	2	498	2	TEAD4	12	3126693	Splice_Site	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	410529	3126693	130725202	78	23698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)			36	25					0	0	1	0	0	T	25398284	C	T	25398284	3	4	27	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	22271591	25398284	108453611	79	23699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													208	371					0	0	1	0	0	T	44782362	C	T	44782362	2	4	27	1	0	0	0	0	0	0	0	1	16091	668	24	2		2	TMEM117	12	44782362	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	19384078	44782362	89069533	80	23700											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	71					0	0	1	0	0	T	113873183	C	T	113873183	3	4	27	1	0	0	0	0	1	0	0	0	14030	623	22	2	511	2	SDSL	12	113873183	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	69090821	113873183	19978712	81	23701											
POP5	51367	broad.mit.edu	37	chr12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-													tctgcagcctcctcacctgaCtcctcctcctcctctaataa							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:121017154_121017156delCTC	ENST00000341039.2	-	4	323_325	c.307_309delGAG	c.(307-309)del	p.E103del	POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	153					tRNA processing		protein binding|ribonuclease P activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517													7	527	---	---	---	---						-	121017156	CTC	-	121017154	7	5	27	1	0	1	0	1	0	0	0	0	12301	564	20	0	36	0	POP5	12	121017154	In_Frame_Del	DEL	CTC	TCGA-IB-A5SP-01A-11D-A32N-08	7143971	121017154	12834741	82	23702											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392428.1_Silent_p.L719L|PITPNM2_ENST00000320201.4_Silent_p.L998L|PITPNM2_ENST00000542749.1_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													8	548					1.12685e-05	1.16163e-05	1	1	0	A	123472784	C	A	123472784	2	1	27	1	0	0	0	0	0	0	0	1	11999	697	25	2		2	PITPNM2	12	123472784	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	2455630	123472784	10379111	83	23703											
SBNO1	55206	broad.mit.edu	37	chr12	123806251	123806251	+	Frame_Shift_Del	DEL	T	T	-													aggccacctacttttcgtgcTtttttggcttctcgagttat							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:123806251delT	ENST00000420886.2	-	16	2153	c.2154delA	c.(2152-2154)aafs	p.K718fs	SBNO1_ENST00000267176.4_Frame_Shift_Del_p.K717fs|SBNO1_ENST00000602398.1_Frame_Shift_Del_p.K718fs|SBNO1_ENST00000602750.1_Frame_Shift_Del_p.K717fs	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	718							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)		CTTTTCGTGCTTTTTTGGCTT	0.418													7	380	---	---	---	---						-	123806251	T	-	123806251	7	5	27	1	0	1	0	1	0	0	0	0	13915	1606	56	0	2091	0	SBNO1	12	123806251	Frame_Shift_Del	DEL	T	TCGA-IB-A5SP-01A-11D-A32N-08	333467	123806251	10045644	84	23704											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545891.1_Intron|CCDC92_ENST00000545135.1_5'UTR|CCDC92_ENST00000544798.1_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													77	169					0	0	1	0	0	T	124428832	C	T	124428832	2	4	27	1	0	0	0	0	0	0	0	1	2891	871	31	1		1	CCDC92	12	124428832	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	622581	124428832	9423063	85	23705											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537452.1_Missense_Mutation_p.Y855S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.Y855S|GOLGA3_ENST00000450791.2_Missense_Mutation_p.Y855S|GOLGA3_ENST00000545875.1_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													6	179					0	0	1	0	0	G	133365860	T	G	133365860	3	3	27	1	0	0	0	0	1	0	0	0	6596	1638	57	3	2118	3	GOLGA3	12	133365860	Missense_Mutation	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08	8937028	133365860	486035	86	23706											
WASF3	10810	broad.mit.edu	37	chr13	27250862	27250863	+	Splice_Site	DEL	GT	GT	-													tccctgtccccagatactagGtgtgtgtgtgtcactgctcc							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr13:27250862_27250863delGT	ENST00000335327.5	+	7	894		c.e7+1		WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3						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)		CAGATACTAGGTGTGTGTGTGT	0.475													10	348	---	---	---	---						-	27250863	GT	-	27250862	8	5	27	1	0	1	0	1	0	0	1	0	17314	1275	44	0	735	0	WASF3	13	27250862	Splice_Site	DEL	GT	TCGA-IB-A5SP-01A-11D-A32N-08		27250862	87919016	87	23707											
DHRS12	79758	broad.mit.edu	37	chr13	52343379	52343379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgccctgggcctcggagcGcaggcggtccccgaacctgg	16	17	0	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr13:52343379G>A	ENST00000218981.1	-	8	721	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	DHRS12_ENST00000444610.2_Missense_Mutation_p.R253C	NM_024705.2	NP_078981.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	253							binding|oxidoreductase activity			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		GCCTCGGAGCGCAGGCGGTCC	0.667													3	50					0	0	1	0	0	A	52343379	G	A	52343379	3	1	27	1	0	0	0	0	1	0	0	0	4516	1087	38	1	122	1	DHRS12	13	52343379	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	25092517	52343379	62826499	88	23708											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	104					0	0	1	0	0	T	114773065	C	T	114773065	2	4	27	1	0	0	0	0	0	0	0	1	13114	523	19	1		1	RASA3	13	114773065	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	62429686	114773065	396813	89	23709											
CBLN3	643866	broad.mit.edu	37	chr14	24897533	24897533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccttcaccacatggaaccGgaagctgtagacaccccgga	9	15	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr14:24897533G>A	ENST00000267406.6	-	2	849	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	CBLN3_ENST00000555436.1_Missense_Mutation_p.R76W	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	127	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)		ACATGGAACCGGAAGCTGTAG	0.652													7	589					0	0	1	0	0	A	24897533	G	A	24897533	3	1	27	1	0	0	0	0	1	0	0	0	2724	1115	39	1	246	1	CBLN3	14	24897533	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		24897533	82452007	90	23710											
PTPN21	11099	broad.mit.edu	37	chr14	88945442	88945442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggcctctgcggtcgtgCggacggggctgctgtccatc	17	13	1	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr14:88945442C>T	ENST00000556564.1	-	13	2617	c.2333G>A	c.(2332-2334)cGc>cAc	p.R778H	PTPN21_ENST00000328736.3_Missense_Mutation_p.R778H	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	778						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						TGCGGTCGTGCGGACGGGGCT	0.711													5	295					0	0	1	0	0	T	88945442	C	T	88945442	3	4	27	1	0	0	0	0	1	0	0	0	12838	768	27	1	1219	1	PTPN21	14	88945442	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	64047909	88945442	18404098	91	23711											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	86					0	0	1	0	0	T	104642766	C	T	104642766	3	4	27	1	0	0	0	0	1	0	0	0	8336	652	23	1	3687	1	KIF26A	14	104642766	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	15697324	104642766	2706774	92	23712											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334933.4_Silent_p.S1214S|PPIP5K1_ENST00000396923.3_Silent_p.S1239S|PPIP5K1_ENST00000360301.4_Silent_p.S1214S|PPIP5K1_ENST00000381885.1_Silent_p.S1235S|PPIP5K1_ENST00000360135.4_Silent_p.S1212S|PPIP5K1_ENST00000381879.4_Silent_p.S1215S|PPIP5K1_ENST00000348806.6_Silent_p.S1212S	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													180	300					0	0	1	0	0	A	43827457	G	A	43827457	2	1	27	1	0	0	0	0	0	0	0	1	12381	1219	43	2		2	PPIP5K1	15	43827457	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		43827457	58703935	93	23713											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	167					0	0	1	0	0	T	63032911	C	T	63032911	3	4	27	1	0	0	0	0	1	0	0	0	16008	913	32	2	4082	2	TLN2	15	63032911	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	19205454	63032911	39498481	94	23714											
KIAA1199	57214	broad.mit.edu	37	chr15	81173477	81173477	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtcatccattctgaccGgtaaggtttgccttcactta	7	12	3	1	rs142610156	by1000genomes	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr15:81173477G>A	ENST00000394685.3	+	6	1036	c.617_splice	c.e6+1	p.R206_splice	KIAA1199_ENST00000220244.3_Splice_Site_p.R206_splice|KIAA1199_ENST00000356249.5_Splice_Site_p.R206_splice			Q8WUJ3	K1199_HUMAN	KIAA1199	206										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						CATTCTGACCGGTAAGGTTTG	0.488													5	465					0	0	1	0	0	A	81173477	G	A	81173477	5	1	27	1	0	0	0	0	0	0	1	0	8255	1130	39	1	631	1	KIAA1199	15	81173477	Splice_Site	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	18140566	81173477	21357915	95	23715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	703					0	0	1	0	0	A	3063749	G	A	3063749	3	1	27	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	96	23716											
SEC14L5	9717	broad.mit.edu	37	chr16	5053463	5053463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcacctgtggcggccgggGgtgaaggccctgctgcggat	19	12	0	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:5053463G>A	ENST00000251170.7	+	11	1371	c.1191G>A	c.(1189-1191)ggG>ggA	p.G397G		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	397	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						GGCGGCCGGGGGTGAAGGCCC	0.647													5	390					0	0	1	0	0	A	5053463	G	A	5053463	2	1	27	1	0	0	0	0	0	0	0	1	14039	1219	43	2		2	SEC14L5	16	5053463	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	1989714	5053463	85301290	97	23717											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				30	33					0	0	1	0	0	T	14014215	C	T	14014215	4	4	27	1	0	0	0	0	0	1	0	0	5243	711	25	2	195	2	ERCC4	16	14014215	Nonsense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	8960752	14014215	76340538	98	23718											
KIAA0430	9665	broad.mit.edu	37	chr16	15729982	15729984	+	In_Frame_Del	DEL	CCA	CCA	-													tactggtacctccgctaccgCcaccaccaccaccaaaacgc							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:15729982_15729984delCCA	ENST00000396368.3	-	3	566_568	c.360_362delTGG	c.(358-363)ggc>gg	p.GG120del	KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	119	Poly-Gly.					peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCGCTACCGCCACCACCACCAC	0.532													7	516	---	---	---	---						-	15729984	CCA	-	15729982	7	5	27	1	0	1	0	1	0	0	0	0	8219	739	26	0	4969	0	KIAA0430	16	15729982	In_Frame_Del	DEL	CCA	TCGA-IB-A5SP-01A-11D-A32N-08	1715767	15729982	74624771	99	23719											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395754.4_Silent_p.D60D|IL21R_ENST00000564089.1_Silent_p.D60D|IL21R_ENST00000395755.1_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								7	320					0	0	1	0	0	T	27448836	C	T	27448836	2	4	27	1	0	0	0	0	0	0	0	1	7715	535	19	1		1	IL21R	16	27448836	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	11718854	27448836	62905917	100	23720											
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-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	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													5	499					0	0	1	0	0	A	84164829	G	A	84164829	3	1	27	1	0	0	0	0	1	0	0	0	7434	1145	40	1	910	1	HSDL1	16	84164829	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	56715993	84164829	6189924	101	23721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000269305.4_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_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)			91	90					0	0	1	0	0	A	7577559	G	A	7577559	3	1	27	1	0	0	0	0	1	0	0	0	16442	1174	41	2	568	2	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		7577559	73617651	102	23722											
DNAH9	1770	broad.mit.edu	37	chr17	11757594	11757594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggccaccaaatcctatgCggctgcaggcctctgctcct	10	15	1	0	rs144200063		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:11757594C>T	ENST00000262442.3	+	50	9850	c.9782C>T	c.(9781-9783)gCg>gTg	p.A3261V	DNAH9_ENST00000454412.2_Missense_Mutation_p.A3261V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3261	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)		AAATCCTATGCGGCTGCAGGC	0.512													5	534					0	0	1	0	0	T	11757594	C	T	11757594	3	4	27	1	0	0	0	0	1	0	0	0	4635	768	27	1	9980	1	DNAH9	17	11757594	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	4180035	11757594	69437616	103	23723											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	144					0	0	1	0	0	A	18023559	G	A	18023559	3	1	27	1	0	0	0	0	1	0	0	0	10111	1058	37	1	1447	1	MYO15A	17	18023559	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	6265965	18023559	63171651	104	23724											
GRIN2C	2905	broad.mit.edu	37	chr17	72846360	72846360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacctccccaatcatgccGttccatacgccgcgcacccg	6	21	1	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:72846360G>A	ENST00000293190.5	-	6	1622	c.1476C>T	c.(1474-1476)aaC>aaT	p.N492N	GRIN2C_ENST00000347612.4_Silent_p.N492N	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	492					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)	CAATCATGCCGTTCCATACGC	0.622													5	304					0	0	1	0	0	A	72846360	G	A	72846360	2	1	27	1	0	0	0	0	0	0	0	1	6822	1136	40	1		1	GRIN2C	17	72846360	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	54822801	72846360	8348850	105	23725											
LAMA3	3909	broad.mit.edu	37	chr18	21512193	21512193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacacatttcaagttcccgGcagtctctgcgtctgggcgg	11	12	3	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr18:21512193G>A	ENST00000313654.9	+	66	8887	c.8646G>A	c.(8644-8646)cgG>cgA	p.R2882R	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.R1217R|LAMA3_ENST00000269217.6_Silent_p.R1273R|LAMA3_ENST00000399516.3_Silent_p.R2826R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2882	Laminin G-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)	CAAGTTCCCGGCAGTCTCTGC	0.458													5	568					0	0	1	0	0	A	21512193	G	A	21512193	2	1	27	1	0	0	0	0	0	0	0	1	8646	1190	42	2		2	LAMA3	18	21512193	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		21512193	56565055	106	23726											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr18:48604761_48604764delACTT	ENST00000342988.3	+	12	2121_2124	c.1583_1586delACTT	c.(1582-1587)cafs	p.HL528fs	SMAD4_ENST00000398417.2_Frame_Shift_Del_p.HL528fs|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Frame_Shift_Del_p.HL432fs	NM_005359.5	NP_005350.1	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													131	140	---	---	---	---						-	48604764	ACTT	-	48604761	7	5	27	1	0	1	0	1	0	0	0	0	14814	159	6	0	1625	0	SMAD4	18	48604761	Frame_Shift_Del	DEL	ACTT	TCGA-IB-A5SP-01A-11D-A32N-08	27092568	48604761	29472487	107	23727											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	35					0	0	1	0	0	C	55103544	G	C	55103544	3	2	27	1	0	0	0	0	1	0	0	0	10917	1087	38	5	598	5	ONECUT2	18	55103544	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	6498783	55103544	22973704	108	23728											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													103	212					5.82527e-40	6.3583e-40	1	1	0	A	9057140	C	A	9057140	3	1	27	1	0	0	0	0	1	0	0	0	10021	594	21	2	13545	2	MUC16	19	9057140	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		9057140	50071843	109	23729											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													109	212					2.45337e-35	2.66047e-35	1	1	0	T	9089947	G	T	9089947	3	4	27	1	0	0	0	0	1	0	0	0	10021	1377	48	2	41991	2	MUC16	19	9089947	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	32807	9089947	50039036	110	23730											
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-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	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													4	347					0	0	1	0	0	G	9090831	A	G	9090831	2	3	27	1	0	0	0	0	0	0	0	1	10021	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08	884	9090831	50038152	111	23731											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	84					0	0	1	0	0	G	11891903	A	G	11891903	3	3	27	1	0	0	0	0	1	0	0	0	17971	363	13	3	1278	3	ZNF441	19	11891903	Missense_Mutation	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08	2801072	11891903	47237080	112	23732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								5	502					0	0	1	0	0	A	15350213	G	A	15350213	3	1	27	1	0	0	0	0	1	0	0	0	1506	1087	38	1	538	1	BRD4	19	15350213	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	3458310	15350213	43778770	113	23733											
SERTAD1	29950	broad.mit.edu	37	chr19	40929409	40929411	+	In_Frame_Del	DEL	CTC	CTC	-													tcgactgccagaggttccttCtcctcctcctcctcccgttt							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:40929409_40929411delCTC	ENST00000357949.4	-	2	201_203	c.43_45delGAG	c.(43-45)del	p.E15del		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	15					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)			GAGGTTCCTTCTCCTCCTCCTCC	0.557													7	363	---	---	---	---						-	40929411	CTC	-	40929409	7	5	27	1	0	1	0	1	0	0	0	0	14174	912	32	0	669	0	SERTAD1	19	40929409	In_Frame_Del	DEL	CTC	TCGA-IB-A5SP-01A-11D-A32N-08	25579196	40929409	18199574	114	23734											
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-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	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													4	281					0	0	1	0	0	T	1902132	A	T	1902132	2	4	27	1	0	0	0	0	0	0	0	1	14387	146	6	5		5	SIRPA	20	1902132	Silent	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08		1902132	61123388	115	23735											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000435864.2_Missense_Mutation_p.R253Q|TOX2_ENST00000372999.1_Missense_Mutation_p.R333Q|TOX2_ENST00000341197.3_Missense_Mutation_p.R375Q|TOX2_ENST00000423191.1_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													163	292					0	0	1	0	0	A	42694515	G	A	42694515	3	1	27	1	0	0	0	0	1	0	0	0	16439	1116	39	1	1280	1	TOX2	20	42694515	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	40792383	42694515	20331005	116	23736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371856.2_Missense_Mutation_p.A241V|STAU1_ENST00000371792.1_Missense_Mutation_p.A160V|STAU1_ENST00000347458.5_Missense_Mutation_p.A160V|STAU1_ENST00000340954.7_Missense_Mutation_p.A160V|STAU1_ENST00000371802.1_Missense_Mutation_p.A166V|STAU1_ENST00000360426.4_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													7	666					0	0	1	0	0	A	47741012	G	A	47741012	3	1	27	1	0	0	0	0	1	0	0	0	15328	1203	42	2	1043	2	STAU1	20	47741012	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	5046497	47741012	15284508	117	23737											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													150	298					0	0	1	0	0	T	51871857	C	T	51871857	2	4	27	1	0	0	0	0	0	0	0	1	16685	535	19	1		1	TSHZ2	20	51871857	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	4130845	51871857	11153663	118	23738											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000326996.6_Missense_Mutation_p.G53S|COL20A1_ENST00000435874.1_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													6	246					0	0	1	0	0	A	61929336	G	A	61929336	3	1	27	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	10057479	61929336	1096184	119	23739											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000298232.7_Intron|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Intron	NM_199261.2	NP_954870.2	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													160	499					0	0	1	0	0	T	10969096	C	T	10969096	3	4	27	1	0	0	0	0	1	0	0	0	16491	652	23	1	1575	1	TPTE	21	10969096	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		10969096	37160799	120	23740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389125.3_Missense_Mutation_p.A905E|GRIK1_ENST00000535441.1_Missense_Mutation_p.A922E|GRIK1_ENST00000327783.4_Missense_Mutation_p.A949E|GRIK1_ENST00000399913.1_Missense_Mutation_p.A920E			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													4	106					1	1	1	1	0	T	30909555	G	T	30909555	3	4	27	1	0	0	0	0	1	0	0	0	6814	1087	38	4	7	4	GRIK1	21	30909555	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	19940459	30909555	17220340	121	23741											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000567670.1_Missense_Mutation_p.A200T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A160T|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A200T	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													46	38					0	0	1	0	0	T	46951654	C	T	46951654	3	4	27	1	0	0	0	0	1	0	0	0	14483	768	27	1	1193	1	SLC19A1	21	46951654	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	16042099	46951654	1178241	122	23742											
POTEH	23784	broad.mit.edu	37	chr22	16287663	16287663	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccacgttgctcttgccgcTccccctgcaccaggggaagc	11	18	1	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr22:16287663T>C	ENST00000343518.6	-	1	274	c.223A>G	c.(223-225)Agc>Ggc	p.S75G		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	75										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTCTTGCCGCTCCCCCTGCAC	0.582													9	1671					0	0	1	0	0	C	16287663	T	C	16287663	3	2	27	1	0	0	0	0	1	0	0	0	12314	1551	54	3	1454	3	POTEH	22	16287663	Missense_Mutation	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08		16287663	35016903	123	23743											
HPS4	89781	broad.mit.edu	37	chr22	26849247	26849247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttctgctttgctttgccGgagaggctgaaggcgccatc	13	11	1	2	rs138189133		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr22:26849247G>A	ENST00000398145.2	-	14	2695	c.2079C>T	c.(2077-2079)tcC>tcT	p.S693S	HPS4_ENST00000493455.2_Intron|HPS4_ENST00000402105.3_Silent_p.S688S|HPS4_ENST00000398141.1_Silent_p.S706S|HPS4_ENST00000336873.5_Silent_p.S693S	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	693					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						TTGCTTTGCCGGAGAGGCTGA	0.582									Hermansky-Pudlak syndrome				5	581					0	0	1	0	0	A	26849247	G	A	26849247	2	1	27	1	0	0	0	0	0	0	0	1	7382	1103	39	1		1	HPS4	22	26849247	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	10561584	26849247	24455319	124	23744											
TYMP	1890	broad.mit.edu	37	chr22	50966124	50966124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccacgatacagcagcccGcctggtccagcagcacttgc	10	17	0	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr22:50966124G>A	ENST00000252029.3	-	5	701	c.539C>T	c.(538-540)gCg>gTg	p.A180V	TYMP_ENST00000395678.3_Missense_Mutation_p.A180V|TYMP_ENST00000395681.1_Missense_Mutation_p.A180V|TYMP_ENST00000395680.1_Missense_Mutation_p.A180V	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	180					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		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;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	ACAGCAGCCCGCCTGGTCCAG	0.498													4	312					0	0	1	0	0	A	50966124	G	A	50966124	3	1	27	1	0	0	0	0	1	0	0	0	16873	1087	38	1	933	1	TYMP	22	50966124	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	24116877	50966124	338442	125	23745											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	216					0	0	1	0	0	G	23410819	A	G	23410819	3	3	27	1	0	0	0	0	1	0	0	0	12781	43	2	3	1194	3	PTCHD1	23	23410819	Missense_Mutation	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08		23410819	131859741	126	23746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													187	86					0	0	1	0	0	A	34150174	G	A	34150174	2	1	27	1	0	0	0	0	0	0	0	1	5605	1136	40	1		1	FAM47A	23	34150174	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	10739355	34150174	121120386	127	23747											
KDM6A	7403	broad.mit.edu	37	chrX	44894229	44894232	+	Splice_Site	DEL	AAGT	AAGT	-													tgcactttgtccaatgctgaAagtaagtattattaagtact							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:44894229_44894232delAAGT	ENST00000377967.4	+	7	659_660	c.619_splice	c.e7+1	p.E206_splice	KDM6A_ENST00000382899.4_Splice_Site_p.E206_splice|KDM6A_ENST00000543216.1_Splice_Site_p.E206_splice|KDM6A_ENST00000536777.1_Splice_Site_p.E206_splice	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	206					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.?(2)		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						CCAATGCTGAAAGTAAGTATTATT	0.333			"D, N, F, S"		"renal, oesophageal SCC, MM"								86	52	---	---	---	---						-	44894232	AAGT	-	44894229	8	5	27	1	0	1	0	1	0	0	1	0	8180	28	1	0	644	0	KDM6A	23	44894229	Splice_Site	DEL	AAGT	TCGA-IB-A5SP-01A-11D-A32N-08	10744055	44894229	110376331	128	23748											
MAGEC1	9947	broad.mit.edu	37	chrX	140994960	140994960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagggggaggactccctGtctcctcactactttcctca	8	16	4	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590							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)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)			8	937					0	0	1	0	0	A	140994960	G	A	140994960	2	1	27	1	0	0	0	0	0	0	0	1	9230	1364	48	2		2	MAGEC1	23	140994960	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	96100731	140994960	14275600	129	23749											
MAMLD1	10046	broad.mit.edu	37	chrX	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-													gtaatcttctaagccagcaaCagcagcagcagcagcagcag							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)del	p.Q502del	MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532													7	199	---	---	---	---						-	149639327	CAG	-	149639325	7	5	27	1	0	1	0	1	0	0	0	0	9258	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Del	DEL	CAG	TCGA-IB-A5SP-01A-11D-A32N-08	8644365	149639325	5631235	130	23750											
ARID1A	8289	broad.mit.edu	37	chr1	27107212	27107213	+	Frame_Shift_Ins	INS	-	-	TT													ctcattggtttcacaagtcaINStttgtgatgtactgtttttg							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:27107212_27107213insTT	ENST00000324856.7	+	20	7194_7195	c.6823_6824insTT	c.(6823-6825)ttgfs	p.L2275fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.L2058fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.L1892fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.L603fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2275					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.I2275T(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)		TTCACAAGTCATTTGTGATGTA	0.5			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								42	423	---	---	---	---						TT	27107213	-	TT	27107212	7	5	28	1	0	1	1	0	0	0	0	0	910	217	8	0	6901	0	ARID1A	1	27107212	Frame_Shift_Ins	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08		27107212	222143409	1	23751											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539005.1_Missense_Mutation_p.S2220F|MACF1_ENST00000567887.1_Missense_Mutation_p.S4319F|MACF1_ENST00000545844.1_Missense_Mutation_p.S2220F|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000289893.4_Missense_Mutation_p.S2722F|MACF1_ENST00000361689.2_Missense_Mutation_p.S2220F|MACF1_ENST00000372915.3_Missense_Mutation_p.S4287F|MACF1_ENST00000317713.7_Missense_Mutation_p.S2220F			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													19	263					0	0	1	0	0	T	39833893	C	T	39833893	3	4	28	1	0	0	0	0	1	0	0	0	9190	913	32	2	12988	2	MACF1	1	39833893	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	12726681	39833893	209416728	2	23752											
TIE1	7075	broad.mit.edu	37	chr1	43783268	43783268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgaccatcgtgactttgCgggagaactggaagttctgt	12	7	1	3			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:43783268C>T	ENST00000372476.3	+	16	2733	c.2654C>T	c.(2653-2655)gCg>gTg	p.A885V	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.A530V	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	885	Protein kinase.				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)				CGTGACTTTGCGGGAGAACTG	0.502													6	810					0	0	1	0	0	T	43783268	C	T	43783268	3	4	28	1	0	0	0	0	1	0	0	0	15953	768	27	1	2716	1	TIE1	1	43783268	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	3949375	43783268	205467353	3	23753											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347													7	266	---	---	---	---						-	46184898	AC	-	46184897	7	5	28	1	0	1	0	1	0	0	0	0	7844	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-IB-A5SQ-01A-11D-A32N-08	2401629	46184897	203065724	4	23754											
HRNR	388697	broad.mit.edu	37	chr1	152188637	152188638	+	Frame_Shift_Ins	INS	-	-	CG													agactggccagatccagagcINScctgttggccatagctagaa							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:152188637_152188638insCG	ENST00000368801.2	-	3	5542_5543	c.5467_5468insCG	c.(5467-5469)ctcfs	p.L1823fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1823					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)			AGATCCAGAGCCCTGTTGGCCA	0.594													9	946	---	---	---	---						CG	152188638	-	CG	152188637	7	5	28	1	0	1	1	0	0	0	0	0	7400	739	26	0	3088	0	HRNR	1	152188637	Frame_Shift_Ins	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08	106003740	152188637	97061984	5	23755											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	225					0	0	1	0	0	T	228210456	C	T	228210456	3	4	28	1	0	0	0	0	1	0	0	0	17449	652	23	1	166	1	WNT3A	1	228210456	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	76021819	228210456	21040165	6	23756											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	106					0	0	1	0	0	A	24297040	G	A	24297040	3	1	28	1	0	0	0	0	1	0	0	0	14204	1057	37	1	334	1	SF3B14	2	24297040	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		24297040	218902333	7	23757											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	466					0	0	1	0	0	A	74317154	G	A	74317154	3	1	28	1	0	0	0	0	1	0	0	0	15830	1087	38	1	2632	1	TET3	2	74317154	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	50020114	74317154	168882219	8	23758											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	83					0	0	1	0	0	A	95767442	G	A	95767442	3	1	28	1	0	0	0	0	1	0	0	0	9895	1057	37	1	522	1	MRPS5	2	95767442	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	21450288	95767442	147431931	9	23759											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409640.1_Intron|GLB1L_ENST00000356283.3_Intron|GLB1L_ENST00000392089.2_Missense_Mutation_p.T234P|GLB1L_ENST00000497855.1_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													49	642					0	0	1	0	0	G	220104663	T	G	220104663	3	3	28	1	0	0	0	0	1	0	0	0	6470	1638	57	3	1308	3	GLB1L	2	220104663	Missense_Mutation	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08	124337221	220104663	23094710	10	23760											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	409					0	0	1	0	0	T	225659771	C	T	225659771	3	4	28	1	0	0	0	0	1	0	0	0	4712	536	19	1	1629	1	DOCK10	2	225659771	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	5555108	225659771	17539602	11	23761											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	242					0	0	1	0	0	A	13377062	G	A	13377062	2	1	28	1	0	0	0	0	0	0	0	1	10808	1190	42	2		2	NUP210	3	13377062	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		13377062	184645368	12	23762											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000497029.1_Intron|STXBP5L_ENST00000471454.1_Silent_p.A749A|STXBP5L_ENST00000472879.1_Silent_p.A749A|STXBP5L_ENST00000492541.1_Silent_p.A773A	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													6	127					0	0	1	0	0	T	121097633	C	T	121097633	2	4	28	1	0	0	0	0	0	0	0	1	15413	639	23	1		1	STXBP5L	3	121097633	Silent	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	107720571	121097633	76924797	13	23763											
PARP14	54625	broad.mit.edu	37	chr3	122433231	122433232	+	Frame_Shift_Ins	INS	-	-	A													ctctgttttgcaggagtgtgINSaaaaaaaaaattactcatcc							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:122433231_122433232insA	ENST00000474629.2	+	12	4221_4222	c.3955_3956insA	c.(3955-3957)aaafs	p.K1319fs		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1319	Macro 3.				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)		GCAGGAGTGTGAAAAAAAAAAT	0.421													12	182	---	---	---	---						A	122433232	-	A	122433231	7	5	28	1	0	1	1	0	0	0	0	0	11505	1291	45	0	4001	0	PARP14	3	122433231	Frame_Shift_Ins	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08	1335598	122433231	75589199	14	23764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428702.2_Silent_p.S195S|QDPR_ENST00000281243.5_Silent_p.S226S|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													21	277					0	0	1	0	0	A	17488811	G	A	17488811	3	1	28	1	0	0	0	0	1	0	0	0	12924	1194	42	2	60	2	QDPR	4	17488811	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		17488811	173665465	15	23765											
TBC1D1	23216	broad.mit.edu	37	chr4	38020014	38020014	+	Frame_Shift_Del	DEL	A	A	-													acctcatcagtcctgacaccAaaaaaatagcattggagaaa							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:38020014delA	ENST00000261439.4	+	4	1277	c.922delA	c.(922-924)aafs	p.K309fs	TBC1D1_ENST00000508802.1_Frame_Shift_Del_p.K309fs	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	309	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						TCCTGACACCAAAAAAATAGC	0.313													8	288	---	---	---	---						-	38020014	A	-	38020014	7	5	28	1	0	1	0	1	0	0	0	0	15654	131	5	0	932	0	TBC1D1	4	38020014	Frame_Shift_Del	DEL	A	TCGA-IB-A5SQ-01A-11D-A32N-08	20531203	38020014	153134262	16	23766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:68995528G>A	ENST00000356291.2	-	1	70	c.11_splice	c.e1+1	p.A4_splice		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													21	236					0	0	1	0	0	A	68995528	G	A	68995528	5	1	28	1	0	0	0	0	0	0	1	0	16303	1101	38	1	1345	1	TMPRSS11F	4	68995528	Splice_Site	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	30975514	68995528	122158748	17	23767											
NPNT	255743	broad.mit.edu	37	chr4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-													agccaacaccaattcctactCcaccaccaccaccacccctg							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)del	p.P333del	NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				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)		AATTCCTACTCCACCACCACCAC	0.522													13	356	---	---	---	---						-	106863684	CCA	-	106863682	7	5	28	1	0	1	0	1	0	0	0	0	10638	855	30	0	1161	0	NPNT	4	106863682	In_Frame_Del	DEL	CCA	TCGA-IB-A5SQ-01A-11D-A32N-08	37868154	106863682	84290594	18	23768											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	314					0	0	1	0	0	A	148944528	G	A	148944528	3	1	28	1	0	0	0	0	1	0	0	0	859	1145	40	1	1905	1	ARHGAP10	4	148944528	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	42080846	148944528	42209748	19	23769											
SORBS2	8470	broad.mit.edu	37	chr4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-													gcaggagctgatgaggtggcGgtggtggtggtggtggtgat							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:186544620_186544622delGGT	ENST00000431808.1	-	14	2512_2514	c.1949_1951delACC	c.(1948-1953)cgc>c	p.HR650del	SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	650	His-rich.					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)		ATGAggtggcggtggtggtggtg	0.522													7	227	---	---	---	---						-	186544622	GGT	-	186544620	7	5	28	1	0	1	0	1	0	0	0	0	14982	1116	39	0	1387	0	SORBS2	4	186544620	In_Frame_Del	DEL	GGT	TCGA-IB-A5SQ-01A-11D-A32N-08	37600092	186544620	4609656	20	23770											
PDZD2	23037	broad.mit.edu	37	chr5	32090059	32090061	+	In_Frame_Del	DEL	TCC	TCC	-													tcagcatggcaaaactggcgTcctcctcctcctcccttcaa					rs61744453	by1000genomes	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:32090059_32090061delTCC	ENST00000438447.1	+	20	6893_6895	c.6505_6507delTCC	c.(6505-6507)del	p.S2173del	PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2173	Ser-rich.				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						AAAACTGGCGTCCTCCTCCTCCT	0.527													8	565	---	---	---	---						-	32090061	TCC	-	32090059	7	5	28	1	0	1	0	1	0	0	0	0	11748	1667	58	0	6579	0	PDZD2	5	32090059	In_Frame_Del	DEL	TCC	TCGA-IB-A5SQ-01A-11D-A32N-08		32090059	148825201	21	23771											
THBS4	7060	broad.mit.edu	37	chr5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-													gatggaattggtgacgagtgTgatgatgatgatgacaatga							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgt>tg	p.CD663del	THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	663					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)		GTGACGAGTGTGATGATGATGAT	0.562													7	899	---	---	---	---						-	79372776	TGA	-	79372774	7	5	28	1	0	1	0	1	0	0	0	0	15916	1702	59	0	2051	0	THBS4	5	79372774	In_Frame_Del	DEL	TGA	TCGA-IB-A5SQ-01A-11D-A32N-08	47282715	79372774	101542486	22	23772											
FAM53C	51307	broad.mit.edu	37	chr5	137681219	137681219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttgtgatctggatgcccGcaaaactggggtcaagcggc	14	11	2	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:137681219G>A	ENST00000239906.5	+	4	1270	c.842G>A	c.(841-843)cGc>cAc	p.R281H	FAM53C_ENST00000513056.1_Missense_Mutation_p.A91T|FAM53C_ENST00000434981.2_Missense_Mutation_p.R281H	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	281								p.R281H(1)		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)			CTGGATGCCCGCAAAACTGGG	0.642													5	446					0	0	1	0	0	A	137681219	G	A	137681219	3	1	28	1	0	0	0	0	1	0	0	0	5617	1087	38	1	852	1	FAM53C	5	137681219	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	58308445	137681219	43234041	23	23773											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TMCO6_ENST00000252100.6_Missense_Mutation_p.V405I|NDUFA2_ENST00000510680.1_Intron|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													7	663					0	0	1	0	0	A	140023774	G	A	140023774	3	1	28	1	0	0	0	0	1	0	0	0	16060	1145	40	1	1233	1	TMCO6	5	140023774	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	2342555	140023774	40891486	24	23774											
PCDHB2	0	broad.mit.edu	37	chr5	140474590	140474590	+	Frame_Shift_Del	DEL	A	A	-													gccagggtcgtttccaaaggAaaaaaaatgcatttgcagtt							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:140474590delA	ENST00000194155.4	+	1	364	c.216delA	c.(214-216)ggfs	p.G72fs		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		72	Cadherin 1.				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)			TTTCCAAAGGAAAAAAAATGC	0.522													11	348	---	---	---	---						-	140474590	A	-	140474590	7	5	28	1	0	1	0	1	0	0	0	0	11589	233	9	0	218	0	PCDHB2	5	140474590	Frame_Shift_Del	DEL	A	TCGA-IB-A5SQ-01A-11D-A32N-08	450816	140474590	40440670	25	23775											
UNC5A	90249	broad.mit.edu	37	chr5	176301302	176301304	+	In_Frame_Del	DEL	CAC	CAC	-													accatccagccggacctcagCaccaccaccaccacctacca							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:176301302_176301304delCAC	ENST00000329542.4	+	8	1387_1389	c.1113_1115delCAC	c.(1111-1116)agc>ag	p.ST371del	UNC5A_ENST00000261961.3_In_Frame_Del_p.ST331del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	371					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)			CGGACCTCAGCACCACCACCACC	0.645													7	636	---	---	---	---						-	176301304	CAC	-	176301302	7	5	28	1	0	1	0	1	0	0	0	0	17051	709	25	0	1143	0	UNC5A	5	176301302	In_Frame_Del	DEL	CAC	TCGA-IB-A5SQ-01A-11D-A32N-08	35826712	176301302	4613958	26	23776											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000511258.1_Intron|NSD1_ENST00000347982.4_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)			21	237					0	0	1	0	0	G	176562809	A	G	176562809	2	3	28	1	0	0	0	0	0	0	0	1	10717	146	6	3		3	NSD1	5	176562809	Silent	SNP	A	TCGA-IB-A5SQ-01A-11D-A32N-08	261507	176562809	4352451	27	23777											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	413					0	0	1	0	0	T	29408019	C	T	29408019	3	4	28	1	0	0	0	0	1	0	0	0	10946	536	19	1	229	1	OR10C1	6	29408019	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08		29408019	141707048	28	23778											
EHMT2	10919	broad.mit.edu	37	chr6	31857309	31857311	+	In_Frame_Del	DEL	TCT	TCT	-													cctcttcctcctcctcttccTcttcttcttcttcctcctct					rs138941874		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:31857309_31857311delTCT	ENST00000395728.3	-	7	1103_1105	c.1104_1106delAGA	c.(1102-1107)gag>ga	p.EE378del	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_In_Frame_Del_p.EE378del|EHMT2_ENST00000375530.4_In_Frame_Del_p.EE321del|EHMT2_ENST00000375537.4_In_Frame_Del_p.EE321del			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	321					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						ctcctcttcctcttcttcttctt	0.493													7	315	---	---	---	---						-	31857311	TCT	-	31857309	7	5	28	1	0	1	0	1	0	0	0	0	5010	1551	54	0	2781	0	EHMT2	6	31857309	In_Frame_Del	DEL	TCT	TCGA-IB-A5SQ-01A-11D-A32N-08	2449290	31857309	139257758	29	23779											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:44144381C>T	ENST00000542245.1	+	10	1103	c.1065C>T	c.(1063-1065)gaC>gaT	p.D355D	CAPN11_ENST00000398776.1_Silent_p.D355D			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													22	254					0	0	1	0	0	T	44144381	C	T	44144381	2	4	28	1	0	0	0	0	0	0	0	1	2642	535	19	1		1	CAPN11	6	44144381	Silent	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	12287072	44144381	126970686	30	23780											
PHIP	55023	broad.mit.edu	37	chr6	79728866	79728866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcgctctgtaaattttgCaggtcttgggctgtaataca	12	7	2	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:79728866C>T	ENST00000275034.4	-	10	1101	c.934G>A	c.(934-936)Gca>Aca	p.A312T		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	312					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)		GTAAATTTTGCAGGTCTTGGG	0.363													6	483					0	0	1	0	0	T	79728866	C	T	79728866	3	4	28	1	0	0	0	0	1	0	0	0	11890	710	25	2	4655	2	PHIP	6	79728866	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	35584485	79728866	91386201	31	23781											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527759.1_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R577*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R750*|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R748*|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													5	190					0	0	1	0	0	A	136589449	G	A	136589449	4	1	28	1	0	0	0	0	0	1	0	0	1381	1066	37	1	530	1	BCLAF1	6	136589449	Nonsense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	56860583	136589449	34525618	32	23782											
TMEM184A	202915	broad.mit.edu	37	chr7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC													ctcccgccggagccgccgctINSggggtgggtgccgggcctgg					rs3837151	by1000genomes	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)ccgcgg>ccGGCgcgg	p.389_390PR>PAR		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						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)		GAGCCGCCGCTGGGGTGGGTGC	0.703													7	143	---	---	---	---						GCC	1586663	-	GCC	1586662	7	5	28	1	0	1	1	0	0	0	0	0	16164	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08		1586662	157552001	33	23783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				6	136					0	0	1	0	0	G	21882220	C	G	21882220	3	3	28	1	0	0	0	0	1	0	0	0	4627	826	29	5	11034	5	DNAH11	7	21882220	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	20295558	21882220	137256443	34	23784											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|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													6	793					0	0	1	0	0	G	72398976	A	G	72398976	3	3	28	1	0	0	0	0	1	0	0	0	12287	101	4	3	291	3	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-IB-A5SQ-01A-11D-A32N-08	50516756	72398976	86739687	35	23785											
ZAN	7455	broad.mit.edu	37	chr7	100369720	100369721	+	RNA	INS	-	-	T													ccctttcttcctctaaattcINSttttttttttttttgagacg							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:100369720_100369721insT	ENST00000542585.1	+	0	5573				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_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)			cctctaaattcttttttttttt	0.535													11	32	---	---	---	---						T	100369721	-	T	100369720	6	5	28	0	1	1	1	0	0	0	0	0	17573	928	32	0		0	ZAN	7	100369720	RNA	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08	27970744	100369720	58768943	36	23786											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)gcfs	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)	9	136	---	---	---	---						-	128482294	GACG	-	128482291	7	5	28	1	0	1	0	1	0	0	0	0	5968	1058	37	0	2182	0	FLNC	7	128482291	Frame_Shift_Del	DEL	GACG	TCGA-IB-A5SQ-01A-11D-A32N-08	28112571	128482291	30656372	37	23787											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	319					0	0	1	0	0	T	143096794	C	T	143096794	3	4	28	1	0	0	0	0	1	0	0	0	5193	710	25	2	2205	2	EPHA1	7	143096794	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	14614503	143096794	16041869	38	23788											
EZH2	0	broad.mit.edu	37	chr7	148511207	148511207	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcactgtgctttgcagcgGcatcccggaaagcggttttg	13	10	0	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:148511207G>A	ENST00000320356.2	-	15	1816	c.1695C>T	c.(1693-1695)tgC>tgT	p.C565C	EZH2_ENST00000478654.1_Silent_p.C509C|EZH2_ENST00000541220.1_Silent_p.C509C|EZH2_ENST00000483967.1_Silent_p.C551C|EZH2_ENST00000476773.1_Silent_p.C509C|EZH2_ENST00000460911.1_Silent_p.C560C|EZH2_ENST00000350995.2_Silent_p.C521C	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)	560	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)			CTTTGCAGCGGCATCCCGGAA	0.532			Mis		DLBCL								8	569					0	0	1	0	0	A	148511207	G	A	148511207	2	1	28	1	0	0	0	0	0	0	0	1	5362	1195	42	2		2	EZH2	7	148511207	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	5414413	148511207	10627456	39	23789											
RBM33	155435	broad.mit.edu	37	chr7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-													ccaggacagccgtttctgccCacacacacacagcccaacct							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccafs	p.PT571fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	571	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)		CGTTTCTGCCCACACACACACA	0.53													7	257	---	---	---	---						-	155531074	CA	-	155531073	7	5	28	1	0	1	0	1	0	0	0	0	13182	581	21	0	1755	0	RBM33	7	155531073	Frame_Shift_Del	DEL	CA	TCGA-IB-A5SQ-01A-11D-A32N-08	7019866	155531073	3607590	40	23790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	267					0	0	1	0	0	C	88885063	T	C	88885063	2	2	28	1	0	0	0	0	0	0	0	1	4296	1567	55	3		3	DCAF4L2	8	88885063	Silent	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08		88885063	57478959	41	23791											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			12	176					0	0	1	0	0	T	139165382	C	T	139165382	3	4	28	1	0	0	0	0	1	0	0	0	5480	913	32	2	2916	2	FAM135B	8	139165382	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	50280319	139165382	7198640	42	23792											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000356346.3_Missense_Mutation_p.R2493C|PLEC_ENST00000354958.2_Missense_Mutation_p.R2485C|PLEC_ENST00000527096.1_Missense_Mutation_p.R2530C|PLEC_ENST00000357649.2_Missense_Mutation_p.R2511C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2507C|PLEC_ENST00000398774.2_Missense_Mutation_p.R2475C|PLEC_ENST00000436759.2_Missense_Mutation_p.R2534C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2507C	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													21	150					0	0	1	0	0	A	144996470	G	A	144996470	3	1	28	1	0	0	0	0	1	0	0	0	12100	1087	38	1	6128	1	PLEC	8	144996470	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	5831088	144996470	1367552	43	23793											
ZCCHC6	79670	broad.mit.edu	37	chr9	88937383	88937383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcataagctgcacactaccGtaggagactgcaggaatatg	11	9	0	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:88937383G>A	ENST00000277141.6	-	15	3176	c.752C>T	c.(751-753)aCg>aTg	p.T251M	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.T962M|ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.T962M			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	962					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						GCACACTACCGTAGGAGACTG	0.418													4	219					0	0	1	0	0	A	88937383	G	A	88937383	3	1	28	1	0	0	0	0	1	0	0	0	17650	1145	40	1	1658	1	ZCCHC6	9	88937383	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		88937383	52276048	44	23794											
FKBP15	23307	broad.mit.edu	37	chr9	115969556	115969556	+	Frame_Shift_Del	DEL	T	T	-													gctcatggtggctggtgctgTttttggtgttgcctgatttc							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:115969556delT	ENST00000238256.3	-	3	307	c.190delA	c.(190-192)cafs	p.T64fs	FKBP15_ENST00000493847.1_5'UTR	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	64					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						GCTGGTGCTGTTTTTGGTGTT	0.418													7	1105	---	---	---	---						-	115969556	T	-	115969556	7	5	28	1	0	1	0	1	0	0	0	0	5938	1725	60	0	3573	0	FKBP15	9	115969556	Frame_Shift_Del	DEL	T	TCGA-IB-A5SQ-01A-11D-A32N-08	27032173	115969556	25243875	45	23795											
CEL	1056	broad.mit.edu	37	chr9	135941982	135941982	+	Frame_Shift_Del	DEL	G	G	-													agaggaatatcgcggccttcGggggggaccccaacaacatc							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:135941982delG	ENST00000372080.4	+	5	629	c.613delG	c.(613-615)ggfs	p.G206fs	CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	203					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)		CGCGGCCTTCGGGGGGGACCC	0.642													7	1358	---	---	---	---						-	135941982	G	-	135941982	7	5	28	1	0	1	0	1	0	0	0	0	3231	1116	39	0	631	0	CEL	9	135941982	Frame_Shift_Del	DEL	G	TCGA-IB-A5SQ-01A-11D-A32N-08	19972426	135941982	5271449	46	23796											
PARD3	56288	broad.mit.edu	37	chr10	34671501	34671501	+	Frame_Shift_Del	DEL	T	T	-													gatattaagcctcttgcctaTttttttggtgttataaccac							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:34671501delT	ENST00000374789.3	-	9	1691	c.1366delA	c.(1366-1368)tafs	p.I456fs	PARD3_ENST00000544292.1_Frame_Shift_Del_p.I186fs|PARD3_ENST00000374794.3_Frame_Shift_Del_p.I412fs|PARD3_ENST00000545693.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374773.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000545260.1_Frame_Shift_Del_p.I412fs|PARD3_ENST00000346874.4_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374790.3_Frame_Shift_Del_p.I412fs|PARD3_ENST00000374776.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000340077.5_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374788.3_Frame_Shift_Del_p.I456fs|PARD3_ENST00000350537.4_Frame_Shift_Del_p.I456fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	456					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)				CTCTTGCCTATTTTTTTGGTG	0.433													7	494	---	---	---	---						-	34671501	T	-	34671501	7	5	28	1	0	1	0	1	0	0	0	0	11490	1493	52	0	2807	0	PARD3	10	34671501	Frame_Shift_Del	DEL	T	TCGA-IB-A5SQ-01A-11D-A32N-08		34671501	100863246	47	23797											
PLAU	5328	broad.mit.edu	37	chr10	75673298	75673298	+	Splice_Site	DEL	A	A	-													ccctctgtttgtcctccaggAaaaaagccctcctctcctcc							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:75673298delA	ENST00000446342.1	+	6	893	c.409_splice	c.e6-1	p.G137_splice	PLAU_ENST00000372762.4_Splice_Site_p.G118_splice|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Splice_Site_p.G154_splice|C10orf55_ENST00000409178.1_Intron|C10orf55_ENST00000412307.2_Intron	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	154	Kringle.				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)	GTCCTCCAGGAAAAAAGCCCT	0.517													7	1334	---	---	---	---						-	75673298	A	-	75673298	8	5	28	1	0	1	0	1	0	0	1	0	12070	260	9	0	522	0	PLAU	10	75673298	Splice_Site	DEL	A	TCGA-IB-A5SQ-01A-11D-A32N-08	41001797	75673298	59861449	48	23798											
CDHR5	53841	broad.mit.edu	37	chr11	618994	618994	+	Frame_Shift_Del	DEL	G	G	-													aggtgctgttttctgcacccGggggccccccgggtgtggac							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:618994delG	ENST00000358353.3	-	14	1887	c.1565delC	c.(1564-1566)cgfs	p.P522fs	CDHR5_ENST00000397542.2_Frame_Shift_Del_p.P522fs|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	522					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						TTCTGCACCCGGGGGCCCCCC	0.677													8	841	---	---	---	---						-	618994	G	-	618994	7	5	28	1	0	1	0	1	0	0	0	0	3144	1116	39	0	984	0	CDHR5	11	618994	Frame_Shift_Del	DEL	G	TCGA-IB-A5SQ-01A-11D-A32N-08		618994	134387522	49	23799											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	218					0	0	1	0	0	G	55761879	T	G	55761879	3	3	28	1	0	0	0	0	1	0	0	0	11205	1725	60	3	724	3	OR5F1	11	55761879	Missense_Mutation	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08	55142885	55761879	79244637	50	23800											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000524452.1_Silent_p.L25L|SYTL2_ENST00000527523.1_Intron|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													95	1063					0	0	1	0	0	A	85468696	G	A	85468696	2	1	28	1	0	0	0	0	0	0	0	1	15540	933	33	2		2	SYTL2	11	85468696	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	29706817	85468696	49537820	51	23801											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544551.1_Nonsense_Mutation_p.R245*|RDX_ENST00000528498.1_Nonsense_Mutation_p.R381*|RDX_ENST00000405097.1_Nonsense_Mutation_p.R381*|RDX_ENST00000528900.1_Nonsense_Mutation_p.R34*|RDX_ENST00000530301.1_Intron	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													23	316					0	0	1	0	0	A	110108327	G	A	110108327	4	1	28	1	0	0	0	0	0	1	0	0	13250	1153	40	1	626	1	RDX	11	110108327	Nonsense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	24639631	110108327	24898189	52	23802											
RPUSD4	84881	broad.mit.edu	37	chr11	126081436	126081436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtagaggcagcggcagcgGcacaaaatggctttgagacg	15	10	0	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:126081436G>A	ENST00000298317.4	-	1	151	c.98C>T	c.(97-99)gCc>gTc	p.A33V	RPUSD4_ENST00000533628.1_Missense_Mutation_p.A33V|FAM118B_ENST00000533050.1_5'UTR	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	33	Poly-Ala.				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)		AGCGGCAGCGGCACAAAATGG	0.607													7	831					0	0	1	0	0	A	126081436	G	A	126081436	3	1	28	1	0	0	0	0	1	0	0	0	13721	1203	42	2	1063	2	RPUSD4	11	126081436	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	15973109	126081436	8925080	53	23803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_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													20	274					0	0	1	0	0	A	6933844	G	A	6933844	2	1	28	1	0	0	0	0	0	0	0	1	6706	1103	39	1		1	GPR162	12	6933844	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		6933844	126918051	54	23804											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	RNA	INS	-	-	C													acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs36063533		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													19	52	---	---	---	---						C	7080213	-	C	7080212	6	5	28	0	1	1	1	0	0	0	0	0	5118	1722	60	0		0	EMG1	12	7080212	RNA	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08	146368	7080212	126771683	55	23805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396620.3_Missense_Mutation_p.V1099F|CD163_ENST00000432237.2_Missense_Mutation_p.V1066F	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													31	374					1.08312e-15	1.15129e-15	1	1	0	A	7635290	C	A	7635290	3	1	28	1	0	0	0	0	1	0	0	0	2989	536	19	4	286	4	CD163	12	7635290	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	555078	7635290	126216605	56	23806											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_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													26	350					0	0	1	0	0	C	11138881	T	C	11138881	3	2	28	1	0	0	0	0	1	0	0	0	15641	1396	49	3	324	3	TAS2R50	12	11138881	Missense_Mutation	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08	3503591	11138881	122713014	57	23807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:13717461G>A	ENST00000279593.3	-	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	904					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													6	763					0	0	1	0	0	A	13717461	G	A	13717461	3	1	28	1	0	0	0	0	1	0	0	0	6821	1145	40	1	1747	1	GRIN2B	12	13717461	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	2578580	13717461	120134434	58	23808											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.M179I|LST3_ENST00000540229.1_Missense_Mutation_p.M179I|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.M179I|SLCO1B7_ENST00000554957.1_Intron	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													23	381					0	0	1	0	0	A	21015401	G	A	21015401	3	1	28	1	0	0	0	0	1	0	0	0	14779	1319	46	2	555	2	SLCO1B3	12	21015401	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	7297940	21015401	112836494	59	23809											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	65					0.00909568	0.00927881	1	1	0	T	89745479	G	T	89745479	4	4	28	1	0	0	0	0	0	1	0	0	4855	1059	37	4	819	4	DUSP6	12	89745479	Nonsense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	68730078	89745479	44106416	60	23810											
CCDC60	160777	broad.mit.edu	37	chr12	119909828	119909828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtctgtgaagataggccGtggatattttgctattctga	11	7	2	3	rs144740799	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:119909828G>A	ENST00000327554.2	+	3	665	c.200G>A	c.(199-201)cGt>cAt	p.R67H	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	67										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)		AAGATAGGCCGTGGATATTTT	0.468													18	320					0	0	1	0	0	A	119909828	G	A	119909828	3	1	28	1	0	0	0	0	1	0	0	0	2851	1145	40	1	210	1	CCDC60	12	119909828	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	30164349	119909828	13942067	61	23811											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	1301					1.33661e-31	1.44088e-31	1	1	0	A	25262530	C	A	25262530	3	1	28	1	0	0	0	0	1	0	0	0	1121	536	19	4	316	4	ATP12A	13	25262530	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08		25262530	89907348	62	23812											
PABPC3	5042	broad.mit.edu	37	chr13	25671516	25671517	+	In_Frame_Ins	INS	-	-	ACCCTGTAATCAACCCCT													aagtgtacgagctgtgcccaINSaccagcgagcacctccttca							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr13:25671516_25671517insACCCTGTAATCAACCCCT	ENST00000281589.3	+	1	1217_1218	c.1180_1181insACCCTGTAATCAACCCCT	c.(1180-1182)cca>ACCCTGTAATCAACCCCTcca	p.393_394insTL*STP		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	393					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)		AGCTGTGCCCAACCAGCGAGCA	0.495													8	375	---	---	---	---						ACCCTGTAATCAACCCCT	25671517	-	ACCCTGTAATCAACCCCT	25671516	7	5	28	1	0	1	1	0	0	0	0	0	11412	130	5	0	1182	0	PABPC3	13	25671516	In_Frame_Ins	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08	408986	25671516	89498362	63	23813											
TOX4	9878	broad.mit.edu	37	chr14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-													cagtgttgcaggcagcagcaGctgctgctgctgctgcttct							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)del	p.A434del	TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	p.A429A(1)		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)		GGCAGCAGCAGCTGCTGCTGCTG	0.581													8	844	---	---	---	---						-	21961062	GCT	-	21961060	7	5	28	1	0	1	0	1	0	0	0	0	16441	971	34	0	1311	0	TOX4	14	21961060	In_Frame_Del	DEL	GCT	TCGA-IB-A5SQ-01A-11D-A32N-08		21961060	85388480	64	23814											
NYNRIN	57523	broad.mit.edu	37	chr14	24885053	24885053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggcctggagcgctttggCcagtccccactcccagtggt	13	15	0	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:24885053C>T	ENST00000382554.3	+	9	4416	c.4098C>T	c.(4096-4098)ggC>ggT	p.G1366G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1366					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						AGCGCTTTGGCCAGTCCCCAC	0.652													5	411					0	0	1	0	0	T	24885053	C	T	24885053	2	4	28	1	0	0	0	0	0	0	0	1	10844	726	26	2		2	NYNRIN	14	24885053	Silent	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	2923993	24885053	82464487	65	23815											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	153					0.0215528	0.0218401	1	1	0	T	71134284	G	T	71134284	3	4	28	1	0	0	0	0	1	0	0	0	16777	1319	46	2	416	2	TTC9	14	71134284	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	46249231	71134284	36215256	66	23816											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000557719.1_Missense_Mutation_p.F13V|FAM181A_ENST00000557000.2_Missense_Mutation_p.F13V|FAM181A_ENST00000556222.1_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													15	267					0	0	1	0	0	G	94394668	T	G	94394668	3	3	28	1	0	0	0	0	1	0	0	0	5539	1609	56	3	229	3	FAM181A	14	94394668	Missense_Mutation	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08	23260384	94394668	12954872	67	23817											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				22	218					0	0	1	0	0	C	38643373	G	C	38643373	3	2	28	1	0	0	0	0	1	0	0	0	15148	1020	36	5	869	5	SPRED1	15	38643373	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		38643373	63888019	68	23818											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	428					0	0	1	0	0	A	77907604	G	A	77907604	2	1	28	1	0	0	0	0	0	0	0	1	8855	1136	40	1		1	LINGO1	15	77907604	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	39264231	77907604	24623788	69	23819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	547					0	0	1	0	0	G	24942323	A	G	24942323	3	3	28	1	0	0	0	0	1	0	0	0	864	420	15	3	356	3	ARHGAP17	16	24942323	Missense_Mutation	SNP	A	TCGA-IB-A5SQ-01A-11D-A32N-08		24942323	65412430	70	23820											
FLOT2	2319	broad.mit.edu	37	chr17	27208940	27208940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatctcctgtgcctccacgGcaatctgtttcttgcgctgc	10	14	3	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr17:27208940G>A	ENST00000394906.2	-	10	1048	c.971C>T	c.(970-972)gCc>gTc	p.A324V	FLOT2_ENST00000394908.4_Missense_Mutation_p.A269V|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Missense_Mutation_p.A269V			Q14254	FLOT2_HUMAN	flotillin 2	269					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)			TGCCTCCACGGCAATCTGTTT	0.617													5	334					0	0	1	0	0	A	27208940	G	A	27208940	3	1	28	1	0	0	0	0	1	0	0	0	5970	1203	42	2	496	2	FLOT2	17	27208940	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		27208940	53986270	71	23821											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	445					0	0	1	0	0	A	43227456	G	A	43227456	3	1	28	1	0	0	0	0	1	0	0	0	7117	1087	38	1	901	1	HEXIM1	17	43227456	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	16018516	43227456	37967754	72	23822											
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-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	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_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_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													5	263					0	0	1	0	0	A	28991295	G	A	28991295	3	1	28	1	0	0	0	0	1	0	0	0	4805	1087	38	1	2418	1	DSG4	18	28991295	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		28991295	49085953	73	23823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	243					0	0	1	0	0	T	4283173	C	T	4283173	3	4	28	1	0	0	0	0	1	0	0	0	14330	527	19	1	536	1	SHD	19	4283173	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08		4283173	54845810	74	23824											
GTF2F1	2962	broad.mit.edu	37	chr19	6381791	6381793	+	In_Frame_Del	DEL	CTT	CTT	-													aaggcctcgtcgtctgaaccCttcttcttcttctttttcct							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:6381791_6381793delCTT	ENST00000394456.5	-	7	1215_1217	c.751_753delAAG	c.(751-753)del	p.K251del	GTF2F1_ENST00000429701.2_In_Frame_Del_p.K166del	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	251					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						CGTCTGAACCCTTCTTCTTCTTC	0.611													8	232	---	---	---	---						-	6381793	CTT	-	6381791	7	5	28	1	0	1	0	1	0	0	0	0	6899	680	24	0	828	0	GTF2F1	19	6381791	In_Frame_Del	DEL	CTT	TCGA-IB-A5SQ-01A-11D-A32N-08	2098618	6381791	52747192	75	23825											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590574.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1192H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1192H|SMARCA4_ENST00000429416.3_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								16	305					0	0	1	0	0	A	11143994	G	A	11143994	3	1	28	1	0	0	0	0	1	0	0	0	14824	1087	38	1	3673	1	SMARCA4	19	11143994	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	4762203	11143994	47984989	76	23826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	273					0	0	1	0	0	T	14581660	C	T	14581660	2	4	28	1	0	0	0	0	0	0	0	1	12027	825	29	2		2	PKN1	19	14581660	Silent	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	3437666	14581660	44547323	77	23827											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.R25H	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													5	260					0	0	1	0	0	T	16652806	C	T	16652806	3	4	28	1	0	0	0	0	1	0	0	0	3358	768	27	1	2740	1	CHERP	19	16652806	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	2071146	16652806	42476177	78	23828											
C19orf55	148137	broad.mit.edu	37	chr19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-													ccctgcagcaaagcctccatCtcctcctcctcctccctcag							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atc>at	p.IS213del	C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	213	Ser-rich.									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)			AAGCCTCCATCTCCTCCTCCTCC	0.631													7	1121	---	---	---	---						-	36255949	CTC	-	36255947	7	5	28	1	0	1	0	1	0	0	0	0	1949	903	32	0	665	0	C19orf55	19	36255947	In_Frame_Del	DEL	CTC	TCGA-IB-A5SQ-01A-11D-A32N-08	19603141	36255947	22873036	79	23829											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	663					0	0	1	0	0	A	48248871	G	A	48248871	3	1	28	1	0	0	0	0	1	0	0	0	6517	1058	37	1	57	1	GLTSCR2	19	48248871	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	11992924	48248871	10880112	80	23830											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453757.3_Missense_Mutation_p.A89T|KLK11_ENST00000319720.7_Missense_Mutation_p.A89T|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000391804.3_Missense_Mutation_p.A114T|KLK11_ENST00000594458.1_5'UTR	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													17	410					0	0	1	0	0	T	51527499	C	T	51527499	3	4	28	1	0	0	0	0	1	0	0	0	8442	797	28	2	499	2	KLK11	19	51527499	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	3278628	51527499	7601484	81	23831											
ZNF528	84436	broad.mit.edu	37	chr19	52919280	52919280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgacaaggtctttgggcGcaagtgtttcctgacctctc	11	10	2	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:52919280G>A	ENST00000360465.3	+	7	1601	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	392					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)		GTCTTTGGGCGCAAGTGTTTC	0.423													5	318					0	0	1	0	0	A	52919280	G	A	52919280	3	1	28	1	0	0	0	0	1	0	0	0	18026	1087	38	1	1189	1	ZNF528	19	52919280	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	1391781	52919280	6209703	82	23832											
ZNF761	388561	broad.mit.edu	37	chr19	53958820	53958820	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcatactggagagaaaccTtacaagtgtaatgagtgtgg	11	6	1	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:53958820T>C	ENST00000454407.1	+	0	1512							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)		GAGAGAAACCTTACAAGTGTA	0.408													6	479					0	0	1	0	0	C	53958820	T	C	53958820	1	2	28	0	1	0	0	0	0	0	0	0	18186	1596	56	3		3	ZNF761	19	53958820	RNA	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08	1039540	53958820	5170163	83	23833											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000391746.1_Missense_Mutation_p.R270Q|LILRB2_ENST00000391749.4_Missense_Mutation_p.R270Q|LILRB2_ENST00000434421.1_Missense_Mutation_p.R154Q|LILRB2_ENST00000314446.5_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													6	338					0	0	1	0	0	T	54782813	C	T	54782813	3	4	28	1	0	0	0	0	1	0	0	0	8831	652	23	1	1023	1	LILRB2	19	54782813	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	823993	54782813	4346170	84	23834											
LILRA1	11024	broad.mit.edu	37	chr19	55106349	55106349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacacacagggcggtatcGctgtttctacggtagccaca	12	11	1	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:55106349G>A	ENST00000453777.1	+	4	460	c.290G>A	c.(289-291)cGc>cAc	p.R97H	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.R97H|LILRB1_ENST00000396321.2_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	97	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)		GGGCGGTATCGCTGTTTCTAC	0.592													5	346					0	0	1	0	0	A	55106349	G	A	55106349	3	1	28	1	0	0	0	0	1	0	0	0	8824	1087	38	1	300	1	LILRA1	19	55106349	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	323536	55106349	4022634	85	23835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	415					0	0	1	0	0	A	61834082	G	A	61834082	3	1	28	1	0	0	0	0	1	0	0	0	17558	1116	39	1	477	1	YTHDF1	20	61834082	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		61834082	1191438	86	23836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	232					0	0	1	0	0	G	15882757	A	G	15882757	2	3	28	1	0	0	0	0	0	0	0	1	13882	378	14	3		3	SAMSN1	21	15882757	Silent	SNP	A	TCGA-IB-A5SQ-01A-11D-A32N-08		15882757	32247138	87	23837											
DSCAM	1826	broad.mit.edu	37	chr21	41496170	41496170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtactttcggatgatgccGttcagcttgagagggggaag	16	6	1	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr21:41496170G>A	ENST00000400454.1	-	20	4125	c.3648C>T	c.(3646-3648)aaC>aaT	p.N1216N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1216	Fibronectin type-III 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)				GGATGATGCCGTTCAGCTTGA	0.572													6	592					0	0	1	0	0	A	41496170	G	A	41496170	2	1	28	1	0	0	0	0	0	0	0	1	4794	1136	40	1		1	DSCAM	21	41496170	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	25613413	41496170	6633725	88	23838											
DSCAM	1826	broad.mit.edu	37	chr21	41719663	41719663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcacaaagcactggtatgCgcccccgtcacttttgacca	9	15	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr21:41719663C>T	ENST00000400454.1	-	6	1621	c.1144G>A	c.(1144-1146)Gca>Aca	p.A382T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	382	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	p.A382T(1)		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)				CACTGGTATGCGCCCCCGTCA	0.502													7	754					0	0	1	0	0	T	41719663	C	T	41719663	3	4	28	1	0	0	0	0	1	0	0	0	4794	768	27	1	5006	1	DSCAM	21	41719663	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	223493	41719663	6410232	89	23839											
TUBA8	51807	broad.mit.edu	37	chr22	18609254	18609254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatccaagctggagtttgCcatctacccagccccccagg	9	15	1	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:18609254C>T	ENST00000330423.3	+	4	582	c.509C>T	c.(508-510)gCc>gTc	p.A170V	TUBA8_ENST00000316027.6_Missense_Mutation_p.A104V	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	170					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						CTGGAGTTTGCCATCTACCCA	0.537													6	502					0	0	1	0	0	T	18609254	C	T	18609254	3	4	28	1	0	0	0	0	1	0	0	0	16812	739	26	2	523	2	TUBA8	22	18609254	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08		18609254	32695312	90	23840											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_055108.2	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													5	387					0	0	1	0	0	A	39222607	G	A	39222607	2	1	28	1	0	0	0	0	0	0	0	1	10652	1103	39	1		1	NPTXR	22	39222607	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	20613353	39222607	12081959	91	23841											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		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						GGAGCCTCCCAATACTGGAGT	0.642													6	536					0	0	1	0	0	G	37028425	A	G	37028425	3	3	28	1	0	0	0	0	1	0	0	0	5607	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-IB-A5SQ-01A-11D-A32N-08		37028425	118242135	92	23842											
GAGE2D	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT													gttggcgaggaagatcgaccINStatcggcctagaccaagacg							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													14	59	---	---	---	---						TAT	49208296	-	TAT	49208295	7	5	28	1	0	1	1	0	0	0	0	0	6229	668	24	0	366	0	GAGE2D	23	49208295	In_Frame_Ins	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08	12179870	49208295	106062265	93	23843											
GSPT2	23708	broad.mit.edu	37	chrX	51486733	51486735	+	In_Frame_Del	DEL	GCA	GCA	-													ttccgagaccatggattcggGcagcagcagcagcgactcgg					rs17853537		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:51486733_51486735delGCA	ENST00000340438.4	+	1	253_255	c.11_13delGCA	c.(10-15)ggc>g	p.GS4del		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	4					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					ATGGATTCGGGCAGCAGCAGCAG	0.68													7	277	---	---	---	---						-	51486735	GCA	-	51486733	7	5	28	1	0	1	0	1	0	0	0	0	6868	1203	42	0	13	0	GSPT2	23	51486733	In_Frame_Del	DEL	GCA	TCGA-IB-A5SQ-01A-11D-A32N-08	2278438	51486733	103783827	94	23844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Silent_p.P921P|TRO_ENST00000375041.2_Silent_p.P993P	NM_001039705.1	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													24	443					0	0	1	0	0	A	54957327	G	A	54957327	2	1	28	1	0	0	0	0	0	0	0	1	16635	1045	37	1		1	TRO	23	54957327	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	3470594	54957327	100313233	95	23845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:85969723G>T	ENST00000373131.1	+	5	1228	c.1065_splice	c.e5+1	p.K355_splice	DACH2_ENST00000510272.1_Splice_Site_p.K149_splice|DACH2_ENST00000508860.1_Splice_Site_p.K201_splice|DACH2_ENST00000373125.4_Splice_Site_p.K368_splice	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													27	275					2.48779e-11	2.6079e-11	1	1	0	T	85969723	G	T	85969723	5	4	28	1	0	0	0	0	0	0	1	0	4245	1014	35	2	1126	2	DACH2	23	85969723	Splice_Site	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	31012396	85969723	69300837	96	23846											
ARMCX3	51566	broad.mit.edu	37	chrX	100880152	100880154	+	In_Frame_Del	DEL	TGA	TGA	-													gccaggtataatgactggtcTgatgatgatgatgacagcaa							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:100880152_100880154delTGA	ENST00000341189.4	+	5	1049_1051	c.183_185delTGA	c.(181-186)tct>tc	p.SD61del	ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del|ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	61						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATGACTGGTCTGATGATGATGAT	0.517													8	846	---	---	---	---						-	100880154	TGA	-	100880152	7	5	28	1	0	1	0	1	0	0	0	0	960	1567	55	0	185	0	ARMCX3	23	100880152	In_Frame_Del	DEL	TGA	TCGA-IB-A5SQ-01A-11D-A32N-08	14910429	100880152	54390408	97	23847											
ZNF185	7739	broad.mit.edu	37	chrX	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-													gctctacatcaggggacaccGaggaggaggaggaggaggag							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:152087570_152087572delGAG	ENST00000535861.1	+	7	523_525	c.475_477delGAG	c.(475-477)del	p.E165del	ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596													7	135	---	---	---	---						-	152087572	GAG	-	152087570	7	5	28	1	0	1	0	1	0	0	0	0	17810	1059	37	0	516	0	ZNF185	23	152087570	In_Frame_Del	DEL	GAG	TCGA-IB-A5SQ-01A-11D-A32N-08	51207418	152087570	3182990	98	23848											
IL22RA1	58985	broad.mit.edu	37	chr1	24463674	24463674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggctgaccggcctcccGcactgacagcggtgaccctg	14	15	0	3	rs147985725		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:24463674G>A	ENST00000270800.1	-	3	340	c.302C>T	c.(301-303)gCg>gTg	p.A101V		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	101	Fibronectin type-III 1.					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)		CCGGCCTCCCGCACTGACAGC	0.612													4	139					0	0	1	0	0	A	24463674	G	A	24463674	3	1	29	1	0	0	0	0	1	0	0	0	7717	1087	38	1	1442	1	IL22RA1	1	24463674	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		24463674	224786947	1	23849											
PTPRF	5792	broad.mit.edu	37	chr1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-													gagcaaggcggagaggagcaGcggcggcggcggcggcaggc							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cag>ca	p.QR1173del	PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1173					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)				GAGAGGAGCAGCGGCGGCGGCGG	0.631													7	355	---	---	---	---						-	44071948	GCG	-	44071946	7	5	29	1	0	1	0	1	0	0	0	0	12853	962	34	0	3589	0	PTPRF	1	44071946	In_Frame_Del	DEL	GCG	TCGA-IB-A5SS-01A-11D-A32N-08	19608272	44071946	205178675	2	23850											
PGM1	5236	broad.mit.edu	37	chr1	64104471	64104471	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaggagagcttcgggaccGgtaagtcacactcctgtgct	15	10	1	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:64104471G>A	ENST00000371083.4	+	7	1566	c.1198_splice	c.e7+1	p.G400_splice	PGM1_ENST00000371084.3_Splice_Site_p.G382_splice|PGM1_ENST00000540265.1_Splice_Site_p.G185_splice	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	382					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						CTTCGGGACCGGTAAGTCACA	0.478													4	228					0	0	1	0	0	A	64104471	G	A	64104471	5	1	29	1	0	0	0	0	0	0	1	0	11845	1130	39	1	1474	1	PGM1	1	64104471	Splice_Site	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	20032525	64104471	185146150	3	23851											
RPTN	126638	broad.mit.edu	37	chr1	152127845	152127848	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													tatagtgggaactctggcctTgtctgtctgtctgaccataa							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:152127845_152127848delTGTC	ENST00000316073.3	-	3	1791_1794	c.1727_1730delGACA	c.(1726-1731)aafs	p.RQ576fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	576	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						ACTCTGGCCTTGTCTGTCTGTCTG	0.466													8	1180	---	---	---	---						-	152127848	TGTC	-	152127845	7	5	29	1	0	1	0	1	0	0	0	0	13716	1812	63	0	628	0	RPTN	1	152127845	Frame_Shift_Del	DEL	TGTC	TCGA-IB-A5SS-01A-11D-A32N-08	88023374	152127845	97122776	4	23852											
CRNN	49860	broad.mit.edu	37	chr1	152382520	152382520	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctgcctgtatctgagtGtgtcctcctgtcacagcctg	10	14	2	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:152382520G>A	ENST00000271835.3	-	3	1100	c.1038C>T	c.(1036-1038)caC>caT	p.H346H	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	346	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)			GTATCTGAGTGTGTCCTCCTG	0.597													5	586					0	0	1	0	0	A	152382520	G	A	152382520	2	1	29	1	0	0	0	0	0	0	0	1	3915	1368	48	2		2	CRNN	1	152382520	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	254675	152382520	96868101	5	23853											
KCNN3	3782	broad.mit.edu	37	chr1	154705584	154705584	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagatgagccacatggcaccCagaaagttactagttacgtc	10	10	0	3			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:154705584C>A	ENST00000271915.3	-	4	1800	c.1485G>T	c.(1483-1485)ctG>ctT	p.L495L	KCNN3_ENST00000358505.2_Silent_p.L182L|KCNN3_ENST00000361147.4_Silent_p.L190L	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	500						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)			ACATGGCACCCAGAAAGTTAC	0.522													4	205					2.56e-06	2.78528e-06	1	1	0	A	154705584	C	A	154705584	2	1	29	1	0	0	0	0	0	0	0	1	8124	581	21	2		2	KCNN3	1	154705584	Silent	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	2323064	154705584	94545037	6	23854											
SH2D2A	9047	broad.mit.edu	37	chr1	156777073	156777073	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcgggtgggggctggTggggcaggggagggccttgc	24	8	0	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:156777073T>G	ENST00000392306.2	-	8	1236	c.1097A>C	c.(1096-1098)cAc>cCc	p.H366P	SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P|SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	356	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)					TGGGGGCTGGTGGGGCAGGGG	0.597													6	49					0	0	1	0	0	G	156777073	T	G	156777073	3	3	29	1	0	0	0	0	1	0	0	0	14286	1696	59	3	106	3	SH2D2A	1	156777073	Missense_Mutation	SNP	T	TCGA-IB-A5SS-01A-11D-A32N-08	2071489	156777073	92473548	7	23855											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	976					7.48243e-07	8.41e-07	1	1	0	A	169510405	C	A	169510405	3	1	29	1	0	0	0	0	1	0	0	0	5376	565	20	2	2803	2	F5	1	169510405	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	12733332	169510405	79740216	8	23856											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:176926840G>A	ENST00000367654.2	-	11	1898	c.1885C>T	c.(1885-1887)Cgc>Tgc	p.R629C	ASTN1_ENST00000367657.3_Missense_Mutation_p.R621C|ASTN1_ENST00000361833.2_Missense_Mutation_p.R621C|ASTN1_ENST00000424564.2_Missense_Mutation_p.R621C|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	629	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													56	144					0	0	1	0	0	A	176926840	G	A	176926840	3	1	29	1	0	0	0	0	1	0	0	0	1063	1058	37	1	2079	1	ASTN1	1	176926840	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	7416435	176926840	72323781	9	23857											
PRG4	10216	broad.mit.edu	37	chr1	186276008	186276008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcctgcacccaccaccaCcaagtctgcacccaccactc	6	21	1	0	rs147307030		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:186276008C>T	ENST00000445192.2	+	7	1202	c.1157C>T	c.(1156-1158)aCc>aTc	p.T386I	PRG4_ENST00000367485.4_Missense_Mutation_p.T293I|PRG4_ENST00000367486.3_Missense_Mutation_p.T343I|PRG4_ENST00000367484.3_Missense_Mutation_p.T345I|PRG4_ENST00000367483.4_Missense_Mutation_p.T345I	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	386	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						CCCACCACCACCAAGTCTGCA	0.632													6	487					0	0	1	0	0	T	186276008	C	T	186276008	3	4	29	1	0	0	0	0	1	0	0	0	12533	507	18	2	1179	2	PRG4	1	186276008	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	9349168	186276008	62974613	10	23858											
LRRN2	10446	broad.mit.edu	37	chr1	204588728	204588728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaagctgtggtcctccagCcgggtcagctggttctcctc	12	14	2	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:204588728C>T	ENST00000367175.1	-	1	2605	c.393G>A	c.(391-393)cgG>cgA	p.R131R	LRRN2_ENST00000367177.3_Silent_p.R131R|LRRN2_ENST00000367176.3_Silent_p.R131R			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	131					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)			GGTCCTCCAGCCGGGTCAGCT	0.602													5	461					0	0	1	0	0	T	204588728	C	T	204588728	2	4	29	1	0	0	0	0	0	0	0	1	9080	726	26	2		2	LRRN2	1	204588728	Silent	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	18312720	204588728	44661893	11	23859											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	133					0	0	1	0	0	T	221057751	C	T	221057751	3	4	29	1	0	0	0	0	1	0	0	0	7257	536	19	1	1186	1	HLX	1	221057751	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	16469023	221057751	28192870	12	23860											
HIST3H2A	92815	broad.mit.edu	37	chr1	228645319	228645319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgcgcgccgcgttgccgGcaagctccaggatctcggca	14	15	1	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:228645319G>A	ENST00000366695.2	-	1	241	c.200C>T	c.(199-201)gCc>gTc	p.A67V		NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	67					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				CGCGTTGCCGGCAAGCTCCAG	0.672													5	217					0	0	1	0	0	A	228645319	G	A	228645319	3	1	29	1	0	0	0	0	1	0	0	0	7223	1203	42	2	196	2	HIST3H2A	1	228645319	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	7587568	228645319	20605302	13	23861											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	235					0	0	1	0	0	A	248685733	G	A	248685733	2	1	29	1	0	0	0	0	0	0	0	1	11048	1103	39	1		1	OR2G6	1	248685733	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	20040414	248685733	564888	14	23862											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	196					0	0	1	0	0	A	98914394	G	A	98914394	3	1	29	1	0	0	0	0	1	0	0	0	17301	1087	38	1	3272	1	VWA3B	2	98914394	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		98914394	144284979	15	23863											
PDCL3	79031	broad.mit.edu	37	chr2	101188240	101188240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcctctggtgtttggcgGcatgaacctgacaagagatg	14	8	1	3			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr2:101188240G>A	ENST00000264254.6	+	5	935	c.557G>A	c.(556-558)gGc>gAc	p.G186D		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	186					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						GTGTTTGGCGGCATGAACCTG	0.498													5	403					0	0	1	0	0	A	101188240	G	A	101188240	3	1	29	1	0	0	0	0	1	0	0	0	11675	1203	42	2	575	2	PDCL3	2	101188240	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	2273846	101188240	142011133	16	23864											
POTEF	728378	broad.mit.edu	37	chr2	130877782	130877782	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggggaagcagtggcAgcaccacttgcccatcttgt	13	12	1	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr2:130877782A>G	ENST00000357462.5	-	1	400	c.307T>C	c.(307-309)Tgc>Cgc	p.C103R	POTEF_ENST00000360967.5_Missense_Mutation_p.C103R|POTEF_ENST00000409914.2_Missense_Mutation_p.C103R|POTEF_ENST00000361163.4_Missense_Mutation_p.C103R			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	103						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						AAGCAGTGGCAGCACCACTTG	0.617													6	582					0	0	1	0	0	G	130877782	A	G	130877782	3	3	29	1	0	0	0	0	1	0	0	0	12312	188	7	3	2980	3	POTEF	2	130877782	Missense_Mutation	SNP	A	TCGA-IB-A5SS-01A-11D-A32N-08	29689542	130877782	112321591	17	23865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	243					0	0	1	0	0	A	219000390	G	A	219000390	3	1	29	1	0	0	0	0	1	0	0	0	4114	1087	38	1	868	1	CXCR2	2	219000390	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	88122608	219000390	24198983	18	23866											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:30875345A>T	ENST00000454381.3	-	11	1096	c.1050_splice	c.e11+1	p.S350_splice	GADL1_ENST00000282538.5_Splice_Site_p.S350_splice			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													25	93					0	0	1	0	0	T	30875345	A	T	30875345	5	4	29	1	0	0	0	0	0	0	1	0	6220	202	7	5	535	5	GADL1	3	30875345	Splice_Site	SNP	A	TCGA-IB-A5SS-01A-11D-A32N-08		30875345	167147085	19	23867											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	63					9.16793e-09	1.03903e-08	1	1	0	T	74351867	G	T	74351867	4	4	29	1	0	0	0	0	0	1	0	0	3665	1294	45	2	1366	2	CNTN3	3	74351867	Nonsense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	43476522	74351867	123670563	20	23868	159	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	64					0	0	1	0	0	T	74351868	A	T	74351868	3	4	29	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	21	23869	159	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394091.1_5'UTR|SENP7_ENST00000394094.2_Missense_Mutation_p.P10R|SENP7_ENST00000358203.3_5'UTR|SENP7_ENST00000348610.3_5'UTR|SENP7_ENST00000314261.7_Missense_Mutation_p.P10R	NM_020654.3	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													5	497					0	0	1	0	0	C	101231946	G	C	101231946	3	2	29	1	0	0	0	0	1	0	0	0	14105	1348	47	5	3219	5	SENP7	3	101231946	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	26880078	101231946	96790484	22	23870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	80					0	0	1	0	0	T	138382857	C	T	138382857	3	4	29	1	0	0	0	0	1	0	0	0	11962	884	31	1	539	1	PIK3CB	3	138382857	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	37150911	138382857	59639573	23	23871											
HERC5	51191	broad.mit.edu	37	chr4	89381265	89381266	+	Frame_Shift_Ins	INS	-	-	A													gtttgaaagcattttacaagINSaaaaaaaaataattcagatc							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr4:89381265_89381266insA	ENST00000264350.3	+	3	562_563	c.409_410insA	c.(409-411)aaafs	p.K137fs	HERC5_ENST00000508695.1_3'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	137					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)		CATTTTACAAGAAAAAAAAATA	0.272													7	84	---	---	---	---						A	89381266	-	A	89381265	7	5	29	1	0	1	1	0	0	0	0	0	7102	943	33	0	419	0	HERC5	4	89381265	Frame_Shift_Ins	INS	-	TCGA-IB-A5SS-01A-11D-A32N-08		89381265	101773011	24	23872											
NAF1	92345	broad.mit.edu	37	chr4	164087576	164087576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgcccgcgcaggctctgCggctcctggggaggtgacgc	18	15	1	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr4:164087576C>T	ENST00000274054.2	-	1	497	c.304G>A	c.(304-306)Gca>Aca	p.A102T	NAF1_ENST00000422287.2_Missense_Mutation_p.A102T	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	102					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)				GCAGGCTCTGCGGCTCCTGGG	0.726													4	92					0	0	1	0	0	T	164087576	C	T	164087576	3	4	29	1	0	0	0	0	1	0	0	0	10188	768	27	1	1353	1	NAF1	4	164087576	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	74706311	164087576	27066700	25	23873											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000509381.1_Silent_p.V56V|SLC45A2_ENST00000345083.5_Silent_p.V56V|SLC45A2_ENST00000342059.3_Silent_p.V56V|SLC45A2_ENST00000296589.4_Silent_p.V56V	NM_001012509.2	NP_001012527.1	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													14	43					0	0	1	0	0	G	33984521	C	G	33984521	2	3	29	1	0	0	0	0	0	0	0	1	14696	813	29	5		5	SLC45A2	5	33984521	Silent	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		33984521	146930739	26	23874											
RAD1	5810	broad.mit.edu	37	chr5	34911701	34911701	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatggtaatttgtaggactTcactcgtcatatccaattca	6	9	3	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:34911701T>C	ENST00000382038.2	-	4	1943	c.524A>G	c.(523-525)gAa>gGa	p.E175G	RAD1_ENST00000341754.4_Missense_Mutation_p.E175G	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 homolog (S. pombe)	175					DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TTGTAGGACTTCACTCGTCAT	0.413								Other conserved DNA damage response genes					4	261					0	0	1	0	0	C	34911701	T	C	34911701	3	2	29	1	0	0	0	0	1	0	0	0	13030	1783	62	3	336	3	RAD1	5	34911701	Missense_Mutation	SNP	T	TCGA-IB-A5SS-01A-11D-A32N-08	927180	34911701	146003559	27	23875											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000506536.1_Missense_Mutation_p.S25I|TMEM161B_ENST00000509387.1_Missense_Mutation_p.S80I|TMEM161B_ENST00000514135.1_Missense_Mutation_p.S207I|TMEM161B_ENST00000511218.1_Missense_Mutation_p.S25I|TMEM161B_ENST00000512429.1_Missense_Mutation_p.S196I	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													5	36					0.217242	0.218851	1	1	0	A	87502295	C	A	87502295	3	1	29	1	0	0	0	0	1	0	0	0	16137	565	20	2	867	2	TMEM161B	5	87502295	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	52590594	87502295	93412965	28	23876											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA4_ENST00000356878.4_Missense_Mutation_p.R681W|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R681W|PCDHA1_ENST00000504120.2_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)			GGCCTCCTCACGGGCGTTGGT	0.632													49	187					0	0	1	0	0	T	140188813	C	T	140188813	3	4	29	1	0	0	0	0	1	0	0	0	11573	527	19	1	2043	1	PCDHA4	5	140188813	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	52686518	140188813	40726447	29	23877											
PCDHB3	0	broad.mit.edu	37	chr5	140482106	140482106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgcacaatggcgaagtgCgcaccgccaggctgctgagc	16	13	0	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:140482106C>T	ENST00000231130.2	+	1	1873	c.1873C>T	c.(1873-1875)Cgc>Tgc	p.R625C		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		625	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.R625C(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)			TGGCGAAGTGCGCACCGCCAG	0.706													5	458					0	0	1	0	0	T	140482106	C	T	140482106	3	4	29	1	0	0	0	0	1	0	0	0	11590	768	27	1	1875	1	PCDHB3	5	140482106	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	293293	140482106	40433154	30	23878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Silent_p.S650S|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Silent_p.S660S	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													61	180					0	0	1	0	0	A	141243880	G	A	141243880	2	1	29	1	0	0	0	0	0	0	0	1	11553	962	34	2		2	PCDH1	5	141243880	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	761774	141243880	39671380	31	23879											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	124					0	0	1	0	0	A	179538479	G	A	179538479	2	1	29	1	0	0	0	0	0	0	0	1	13123	1103	39	1		1	RASGEF1C	5	179538479	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	38294599	179538479	1376781	32	23880											
OR10C1	442194	broad.mit.edu	37	chr6	29408594	29408594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaggccagctacgatccgGccactgaccctctggtgtcc	10	16	1	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr6:29408594G>A	ENST00000444197.2	+	1	1512	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	268					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						CTACGATCCGGCCACTGACCC	0.557													6	463					0	0	1	0	0	A	29408594	G	A	29408594	3	1	29	1	0	0	0	0	1	0	0	0	10946	1203	42	2	804	2	OR10C1	6	29408594	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		29408594	141706473	33	23881											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000259708.3_Silent_p.R510R|KLC4_ENST00000453940.2_Silent_p.R415R|KLC4_ENST00000479388.1_Silent_p.R492R|KLC4_ENST00000394058.1_Silent_p.R492R|KLC4_ENST00000347162.5_Silent_p.R492R			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													4	159					0.150653	0.154052	1	1	0	A	43039979	C	A	43039979	2	1	29	1	0	0	0	0	0	0	0	1	8379	759	27	4		4	KLC4	6	43039979	Silent	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	13631385	43039979	128075088	34	23882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				18	69					1.87028e-06	2.0849e-06	1	1	0	A	21657266	C	A	21657266	2	1	29	1	0	0	0	0	0	0	0	1	4627	755	27	4		4	DNAH11	7	21657266	Silent	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		21657266	137481397	35	23883											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	242					0	0	1	0	0	T	13947958	C	T	13947958	4	4	29	1	0	0	0	0	0	1	0	0	14258	856	30	2	9	2	SGCZ	8	13947958	Nonsense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		13947958	132416064	36	23884											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498124.1_Nonsense_Mutation_p.R58*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*	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)			13	48					0	0	1	0	0	A	21971186	G	A	21971186	4	1	29	1	0	0	0	0	0	1	0	0	3183	1125	39	1	306	1	CDKN2A	9	21971186	Nonsense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		21971186	119242245	37	23885											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001129471.1	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													68	210					0	0	1	0	0	A	35555589	T	A	35555589	3	1	29	1	0	0	0	0	1	0	0	0	13803	1461	51	5	2553	5	RUSC2	9	35555589	Missense_Mutation	SNP	T	TCGA-IB-A5SS-01A-11D-A32N-08	13584403	35555589	105657842	38	23886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Missense_Mutation_p.P51S	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													44	152					0	0	1	0	0	T	37349387	C	T	37349387	3	4	29	1	0	0	0	0	1	0	0	0	17651	623	22	2	1043	2	ZCCHC7	9	37349387	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	1793798	37349387	103864044	39	23887											
PSAT1	29968	broad.mit.edu	37	chr9	80919793	80919793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcttggtcagctaaggccGcagaagaagccaagaagttt	13	8	1	3			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:80919793G>A	ENST00000376588.3	+	4	402	c.334G>A	c.(334-336)Gca>Aca	p.A112T	PSAT1_ENST00000347159.2_Missense_Mutation_p.A112T	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	112					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			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)	AGCTAAGGCCGCAGAAGAAGC	0.507													5	246					0	0	1	0	0	A	80919793	G	A	80919793	3	1	29	1	0	0	0	0	1	0	0	0	12693	1087	38	1	348	1	PSAT1	9	80919793	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	43570406	80919793	60293638	40	23888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			50	156					0	0	1	0	0	T	128000914	C	T	128000914	3	4	29	1	0	0	0	0	1	0	0	0	7457	594	21	2	787	2	HSPA5	9	128000914	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	47081121	128000914	13212517	41	23889											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	113					1.36161e-19	1.61026e-19	1	1	0	A	132084600	C	A	132084600	1	1	29	0	1	0	0	0	0	0	0	0	2465	681	24	2		2	C9orf106	9	132084600	RNA	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	4083686	132084600	9128831	42	23890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	53					0	0	1	0	0	T	138557549	C	T	138557549	2	4	29	1	0	0	0	0	0	0	0	1	8726	776	27	1		1	LCN9	9	138557549	Silent	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	6472949	138557549	2655882	43	23891											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	141					0	0	1	0	0	T	85991943	C	T	85991943	3	4	29	1	0	0	0	0	1	0	0	0	8992	536	19	1	263	1	LRIT1	10	85991943	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		85991943	49542804	44	23892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	720					1.26484e-09	1.44554e-09	1	1	0	A	100155147	C	A	100155147	5	1	29	1	0	0	0	0	0	0	1	0	12919	521	18	2	1097	2	PYROXD2	10	100155147	Splice_Site	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	14163204	100155147	35379600	45	23893											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	415					0	0	1	0	0	G	28080600	C	G	28080600	3	3	29	1	0	0	0	0	1	0	0	0	8322	593	21	5	895	5	KIF18A	11	28080600	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		28080600	106925916	46	23894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_003096.1	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													60	186					0	0	1	0	0	A	121428026	G	A	121428026	3	1	29	1	0	0	0	0	1	0	0	0	14988	971	34	2	2649	2	SORL1	11	121428026	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	93347426	121428026	13578490	47	23895											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			10	45					0	0	1	0	0	T	25398284	C	T	25398284	3	4	29	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		25398284	108453611	48	23896											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	368					0	0	1	0	0	T	52910448	C	T	52910448	3	4	29	1	0	0	0	0	1	0	0	0	8522	768	27	1	372	1	KRT5	12	52910448	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	27512164	52910448	80941447	49	23897											
LRIG3	121227	broad.mit.edu	37	chr12	59277344	59277344	+	Frame_Shift_Del	DEL	A	A	-													gtgaaaatgcattgccttgtAaagacatgattgcgttgtca							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:59277344delA	ENST00000320743.3	-	11	1560	c.1274delT	c.(1273-1275)tafs	p.L425fs	LRIG3_ENST00000379141.4_Frame_Shift_Del_p.L365fs	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)			ATTGCCTTGTAAAGACATGAT	0.383			T	ROS1	NSCLC								30	127	---	---	---	---						-	59277344	A	-	59277344	7	5	29	1	0	1	0	1	0	0	0	0	8991	372	13	0	2121	0	LRIG3	12	59277344	Frame_Shift_Del	DEL	A	TCGA-IB-A5SS-01A-11D-A32N-08	6366896	59277344	74574551	50	23898											
MYBPC1	4604	broad.mit.edu	37	chr12	102064147	102064147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaagcaaacctatatccGcagagttggagaagctgtca	10	10	1	3			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:102064147G>A	ENST00000549145.1	+	24	2691	c.2591G>A	c.(2590-2592)cGc>cAc	p.R864H	MYBPC1_ENST00000553190.1_Missense_Mutation_p.R833H|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R858H|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R851H|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R851H|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R819H|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R807H|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R833H|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R821H|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R814H|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R851H|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R820H|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R858H|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R851H|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R734H			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	851	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						ACCTATATCCGCAGAGTTGGA	0.433													5	311					0	0	1	0	0	A	102064147	G	A	102064147	3	1	29	1	0	0	0	0	1	0	0	0	10059	1087	38	1	2725	1	MYBPC1	12	102064147	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	42786803	102064147	31787748	51	23899											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000338101.4_Missense_Mutation_p.R1302W|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)	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													156	319					0	0	1	0	0	A	117662845	G	A	117662845	3	1	29	1	0	0	0	0	1	0	0	0	10588	1086	38	1	522	1	NOS1	12	117662845	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	15598698	117662845	16189050	52	23900											
SBNO1	55206	broad.mit.edu	37	chr12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagctgtttctgttggaccGcaagctgttgagactggtct	12	8	2	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:123780522G>A	ENST00000420886.2	-	31	4114	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372							ATP binding|DNA binding|hydrolase activity	p.A1371V(2)		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)		CTGTTGGACCGCAAGCTGTTG	0.433													5	339					0	0	1	0	0	A	123780522	G	A	123780522	3	1	29	1	0	0	0	0	1	0	0	0	13915	1087	38	1	70	1	SBNO1	12	123780522	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	6117677	123780522	10071373	53	23901											
VPS36	51028	broad.mit.edu	37	chr13	52990060	52990061	+	Splice_Site	INS	-	-	A													ttctctgcaagcagcaacctINSaaaaaaaaacaacaaaaaaa							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr13:52990060_52990061insA	ENST00000378060.4	-	14	1095		c.e14-2			NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)						cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	p.?(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)		AGCAGCAACCTAAAAAAAAACA	0.396													8	233	---	---	---	---						A	52990061	-	A	52990060	8	5	29	1	0	1	1	0	0	0	1	0	17264	1536	53	0	98	0	VPS36	13	52990060	Splice_Site	INS	-	TCGA-IB-A5SS-01A-11D-A32N-08		52990060	62179818	54	23902											
TOX4	9878	broad.mit.edu	37	chr14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-													cagtgttgcaggcagcagcaGctgctgctgctgctgcttct							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)del	p.A434del	TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	p.A429A(1)		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)		GGCAGCAGCAGCTGCTGCTGCTG	0.581													8	745	---	---	---	---						-	21961062	GCT	-	21961060	7	5	29	1	0	1	0	1	0	0	0	0	16441	971	34	0	1311	0	TOX4	14	21961060	In_Frame_Del	DEL	GCT	TCGA-IB-A5SS-01A-11D-A32N-08		21961060	85388480	55	23903											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	154					1.06647e-15	1.23966e-15	1	1	0	A	24114078	C	A	24114078	3	1	29	1	0	0	0	0	1	0	0	0	4518	826	29	2	755	2	DHRS2	14	24114078	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	2153018	24114078	83235462	56	23904											
WDR76	79968	broad.mit.edu	37	chr15	44143363	44143363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtctttacttctcacccGccaatccggcccacatactg	6	17	2	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr15:44143363G>A	ENST00000263795.6	+	9	1181	c.1111G>A	c.(1111-1113)Gcc>Acc	p.A371T	WDR76_ENST00000381246.2_Missense_Mutation_p.A307T	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	371										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)		CTTCTCACCCGCCAATCCGGC	0.458													5	406					0	0	1	0	0	A	44143363	G	A	44143363	3	1	29	1	0	0	0	0	1	0	0	0	17386	1087	38	1	1145	1	WDR76	15	44143363	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		44143363	58388029	57	23905											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	189					0	0	1	0	0	G	60747571	A	G	60747571	3	3	29	1	0	0	0	0	1	0	0	0	10217	449	16	3	2251	3	NARG2	15	60747571	Missense_Mutation	SNP	A	TCGA-IB-A5SS-01A-11D-A32N-08	16604208	60747571	41783821	58	23906											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000350773.4_Missense_Mutation_p.P1566L|TSC2_ENST00000353929.4_Missense_Mutation_p.P1546L|TSC2_ENST00000568454.1_Missense_Mutation_p.P1533L|TSC2_ENST00000382538.6_Missense_Mutation_p.P1474L|TSC2_ENST00000401874.2_Missense_Mutation_p.P1522L|TSC2_ENST00000439673.2_Missense_Mutation_p.P1486L	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				57	86					0	0	1	0	0	T	2136297	C	T	2136297	3	4	29	1	0	0	0	0	1	0	0	0	16667	652	23	1	4908	1	TSC2	16	2136297	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		2136297	88218456	59	23907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	223					0	0	1	0	0	T	23226527	C	T	23226527	3	4	29	1	0	0	0	0	1	0	0	0	13984	652	23	1	1733	1	SCNN1G	16	23226527	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	21090230	23226527	67128226	60	23908											
ZNF646	9726	broad.mit.edu	37	chr16	31090952	31090952	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcatctgcggaaccaccctCgctgcaaaggctctgagccc	9	16	3	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:31090952C>A	ENST00000394979.2	+	1	3730	c.3307C>A	c.(3307-3309)Cgc>Agc	p.R1103S	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1103S			O15015	ZN646_HUMAN	zinc finger protein 646	1103					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						GAACCACCCTCGCTGCAAAGG	0.622													5	532					0.014758	0.0153213	1	1	0	A	31090952	C	A	31090952	3	1	29	1	0	0	0	0	1	0	0	0	18119	884	31	4	3309	4	ZNF646	16	31090952	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	7864425	31090952	59263801	61	23909											
E2F4	1874	broad.mit.edu	37	chr16	67229829	67229829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcaacagtaacagcagca	11	13	0	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:67229829G>A	ENST00000379378.3	+	7	1012	c.953G>A	c.(952-954)aGc>aAc	p.S318N		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	318	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)		agcagcagcagcagcaacagt	0.617													5	367					0	0	1	0	0	A	67229829	G	A	67229829	3	1	29	1	0	0	0	0	1	0	0	0	4895	971	34	2	979	2	E2F4	16	67229829	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	36138877	67229829	23124924	62	23910											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000455263.2_Missense_Mutation_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	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)			35	68					0	0	1	0	0	A	7577094	G	A	7577094	3	1	29	1	0	0	0	0	1	0	0	0	16442	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		7577094	73618116	63	23911											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													86	204					0	0	1	0	0	A	7752044	G	A	7752044	3	1	29	1	0	0	0	0	1	0	0	0	8181	1174	41	2	2468	2	KDM6B	17	7752044	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	174950	7752044	73443166	64	23912											
GRB7	2886	broad.mit.edu	37	chr17	37902199	37902199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaactctggttccacgggcGcatttcccgtgaggagagcc	12	14	1	2	rs149195822		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:37902199G>A	ENST00000309156.4	+	13	1561	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H	GRB7_ENST00000445327.2_Missense_Mutation_p.R458H|GRB7_ENST00000394204.1_Intron|GRB7_ENST00000394209.2_Missense_Mutation_p.R435H|GRB7_ENST00000394211.3_Missense_Mutation_p.R435H|GRB7_ENST00000309185.3_Intron	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	435	SH2.				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	p.R435H(1)		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)			TTCCACGGGCGCATTTCCCGT	0.622													6	627					0	0	1	0	0	A	37902199	G	A	37902199	3	1	29	1	0	0	0	0	1	0	0	0	6800	1087	38	1	1350	1	GRB7	17	37902199	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	30150155	37902199	43293011	65	23913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	20					0	0	1	0	0	C	40832279	G	C	40832279	2	2	29	1	0	0	0	0	0	0	0	1	2962	958	34	5		5	CCR10	17	40832279	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	2930080	40832279	40362931	66	23914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000579096.1_3'UTR|ARMC7_ENST00000581078.1_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													16	65					1.37285e-15	1.58227e-15	1	1	0	A	73125037	C	A	73125037	3	1	29	1	0	0	0	0	1	0	0	0	955	912	32	2	511	2	ARMC7	17	73125037	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	32292758	73125037	8070173	67	23915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	109					0	0	1	0	0	T	13826098	C	T	13826098	3	4	29	1	0	0	0	0	1	0	0	0	9417	768	27	1	336	1	MC5R	18	13826098	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		13826098	64251150	68	23916											
SMAD4	4089	broad.mit.edu	37	chr18	48604697	48604698	+	Frame_Shift_Del	DEL	AA	AA	-													tactcaggatgagttttgtgAaaggctggggaccggattac							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr18:48604697_48604698delAA	ENST00000342988.3	+	12	2057_2058	c.1519_1520delAA	c.(1519-1521)afs	p.K507fs	SMAD4_ENST00000398417.2_Frame_Shift_Del_p.K507fs|SMAD4_ENST00000588745.1_Frame_Shift_Del_p.K411fs|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	507	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.K507Q(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)		GAGTTTTGTGAAAGGCTGGGGA	0.47													55	134	---	---	---	---						-	48604698	AA	-	48604697	7	5	29	1	0	1	0	1	0	0	0	0	14814	247	9	0	1561	0	SMAD4	18	48604697	Frame_Shift_Del	DEL	AA	TCGA-IB-A5SS-01A-11D-A32N-08	34778599	48604697	29472551	69	23917											
ATP9B	374868	broad.mit.edu	37	chr18	77108132	77108132	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgggctctctctccagGctgtgttttcctcagtcttc	9	13	5	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr18:77108132G>C	ENST00000426216.2	+	25	2856	c.2838_splice	c.e25-1	p.A947_splice	ATP9B_ENST00000307671.7_Splice_Site_p.A947_splice|ATP9B_ENST00000543761.1_Splice_Site_p.A268_splice	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	947					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)		CTCTCTCCAGGCTGTGTTTTC	0.567													5	363					0	0	1	0	0	C	77108132	G	C	77108132	5	2	29	1	0	0	0	0	0	0	1	0	1197	1217	42	5	2937	5	ATP9B	18	77108132	Splice_Site	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	28503435	77108132	969116	70	23918											
HNRNPM	4670	broad.mit.edu	37	chr19	8550658	8550658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcatgggctccgtggagcGcatgggctccggcattgagc	16	13	0	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:8550658G>A	ENST00000348943.3	+	15	1461	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	HNRNPM_ENST00000325495.4_Missense_Mutation_p.R449H	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	449	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.R449L(1)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TCCGTGGAGCGCATGGGCTCC	0.692													6	847					0	0	1	0	0	A	8550658	G	A	8550658	3	1	29	1	0	0	0	0	1	0	0	0	7312	1087	38	1	1400	1	HNRNPM	19	8550658	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		8550658	50578325	71	23919											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Intron|LSR_ENST00000354900.3_Missense_Mutation_p.V274I|LSR_ENST00000427250.1_Intron|LSR_ENST00000361790.3_Missense_Mutation_p.V293I|LSR_ENST00000347609.4_Missense_Mutation_p.V256I			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													62	284					0	0	1	0	0	A	35753550	G	A	35753550	3	1	29	1	0	0	0	0	1	0	0	0	9109	1145	40	1	895	1	LSR	19	35753550	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	27202892	35753550	23375433	72	23920											
ZNF780A	284323	broad.mit.edu	37	chr19	40581529	40581529	+	Missense_Mutation	SNP	C	C	T													cttacattcatatggttttaCaccagaatgaatactctgat							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000340963.5_Missense_Mutation_p.V274I|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.V274I|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I			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													7	868					0	0	1	0	0	T	40581529	C	T	40581529	3	4	29	1	0	0	0	0	1	0	0	0	18201	478	17	2	1236	2	ZNF780A	19	40581529	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	4827979	40581529	18547454	73	23921	160	2									
ZNF780A	284323	broad.mit.edu	37	chr19	40581535	40581535	+	Missense_Mutation	SNP	A	A	C													ttcatatggttttacaccagAatgaatactctgatgttgaa							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:40581535A>C	ENST00000450241.2	-	6	1023	c.712T>G	c.(712-714)Tct>Gct	p.S238A	ZNF780A_ENST00000340963.5_Missense_Mutation_p.S272A|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.S272A|ZNF780A_ENST00000594395.1_Missense_Mutation_p.S273A|ZNF780A_ENST00000455521.1_Missense_Mutation_p.S273A			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													6	861					0	0	1	0	0	C	40581535	A	C	40581535	3	2	29	1	0	0	0	0	1	0	0	0	18201	246	9	3	1242	3	ZNF780A	19	40581535	Missense_Mutation	SNP	A	TCGA-IB-A5SS-01A-11D-A32N-08	6	40581535	18547448	74	23922	160	2									
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	330					0	0	1	0	0	A	41083342	G	A	41083342	3	1	29	1	0	0	0	0	1	0	0	0	14339	1117	39	1	191	1	SHKBP1	19	41083342	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	501807	41083342	18045641	75	23923											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000243562.9_Missense_Mutation_p.H141Q|LTBP4_ENST00000396819.3_Missense_Mutation_p.H1020Q|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													19	132					0	0	1	0	0	G	41123123	C	G	41123123	3	3	29	1	0	0	0	0	1	0	0	0	9121	565	20	5	3650	5	LTBP4	19	41123123	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	39781	41123123	18005860	76	23924											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000595547.1_Missense_Mutation_p.G132D|KLK13_ENST00000335422.3_Missense_Mutation_p.G53D	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													5	408					0	0	1	0	0	T	51561826	C	T	51561826	3	4	29	1	0	0	0	0	1	0	0	0	8444	739	26	2	227	2	KLK13	19	51561826	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	10438703	51561826	7567157	77	23925											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541392.1_Missense_Mutation_p.M252I|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.M252I|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.M252I|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.M252I|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.M157I	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													43	85					0	0	1	0	0	A	55333120	G	A	55333120	3	1	29	1	0	0	0	0	1	0	0	0	8363	1377	48	2	774	2	KIR3DL1	19	55333120	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	3771294	55333120	3795863	78	23926											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000350849.6_Missense_Mutation_p.T28M|CDH26_ENST00000244047.5_Missense_Mutation_p.T695M|CDH26_ENST00000244049.3_Missense_Mutation_p.T28M|CDH26_ENST00000497614.1_3'UTR	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													40	182					0	0	1	0	0	T	58574705	C	T	58574705	3	4	29	1	0	0	0	0	1	0	0	0	3132	536	19	1	2160	1	CDH26	20	58574705	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		58574705	4450815	79	23927											
BAGE2	85319	broad.mit.edu	37	chr21	11085940	11085942	+	RNA	DEL	CAC	CAC	-													accaccaccaccaccaccatCaccaccaccaccaccatcaa							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr21:11085940_11085942delCAC	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)		ccaccaccatcaccaccaccacc	0.532													4	9	---	---	---	---						-	11085942	CAC	-	11085940	6	5	29	0	1	1	0	1	0	0	0	0	1290	841	29	0		0	BAGE2	21	11085940	RNA	DEL	CAC	TCGA-IB-A5SS-01A-11D-A32N-08		11085940	37043955	80	23928											
MED15	51586	broad.mit.edu	37	chr22	20918916	20918918	+	In_Frame_Del	DEL	CAG	CAG	-													tgcagcagcagcagcagctcCagcagcagcagcagcagcag							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:20918916_20918918delCAG	ENST00000263205.7	+	6	700_702	c.631_633delCAG	c.(631-633)del	p.Q218del	MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	218	Poly-Gln.			Missing (in Ref. 4; CAG30423).	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)			gcagcagctccagcagcagcagc	0.567											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	94	---	---	---	---						-	20918918	CAG	-	20918916	7	5	29	1	0	1	0	1	0	0	0	0	9483	595	21	0	653	0	MED15	22	20918916	In_Frame_Del	DEL	CAG	TCGA-IB-A5SS-01A-11D-A32N-08		20918916	30385650	81	23929											
CBY1	25776	broad.mit.edu	37	chr22	39067102	39067102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttagtggcggtgtggaccGgagggaggttcagcgccttc	19	8	1	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:39067102G>A	ENST00000216029.3	+	4	346	c.212G>A	c.(211-213)cGg>cAg	p.R71Q	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)	71	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)					GGTGTGGACCGGAGGGAGGTT	0.527													4	278					0	0	1	0	0	A	39067102	G	A	39067102	3	1	29	1	0	0	0	0	1	0	0	0	2743	1116	39	1	222	1	CBY1	22	39067102	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	18148186	39067102	12237464	82	23930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402142.3_Missense_Mutation_p.H409Y|CACNA1I_ENST00000407673.1_Missense_Mutation_p.H409Y|CACNA1I_ENST00000400164.3_Missense_Mutation_p.H409Y|CACNA1I_ENST00000404898.1_Missense_Mutation_p.H409Y|CACNA1I_ENST00000401624.1_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													4	22					0	0	1	0	0	T	40042649	C	T	40042649	3	4	29	1	0	0	0	0	1	0	0	0	2564	710	25	2	1255	2	CACNA1I	22	40042649	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	975547	40042649	11261917	83	23931											
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-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:47189570G>A	ENST00000337137.4	+	3	458	c.292G>A	c.(292-294)Gcc>Acc	p.A98T	TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.A51T|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.A79T|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.A51T|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.A98T	NM_014346.2	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													4	192					0	0	1	0	0	A	47189570	G	A	47189570	3	1	29	1	0	0	0	0	1	0	0	0	15668	1203	42	2	302	2	TBC1D22A	22	47189570	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	7146921	47189570	4114996	84	23932											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:50900742C>T	ENST00000380817.2	-	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	763					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													5	308					0	0	1	0	0	T	50900742	C	T	50900742	3	4	29	1	0	0	0	0	1	0	0	0	13911	768	27	1	3485	1	SBF1	22	50900742	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	3711172	50900742	403824	85	23933											
MID1	0	broad.mit.edu	37	chrX	10427780	10427780	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgccgctctgcagaccGtgcaccgtgtagtggttctg	14	11	2	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chrX:10427780G>A	ENST00000317552.4	-	8	1753	c.1353C>T	c.(1351-1353)caC>caT	p.H451H	MID1_ENST00000453318.2_Silent_p.H451H|MID1_ENST00000380779.1_Silent_p.H451H|MID1_ENST00000380780.1_Silent_p.H451H|MID1_ENST00000380782.2_Silent_p.H451H|MID1_ENST00000380785.1_Silent_p.H451H|MID1_ENST00000380787.1_Silent_p.H451H|MID1_ENST00000479925.1_5'UTR	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	451	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						TCTGCAGACCGTGCACCGTGT	0.517													5	386					0	0	1	0	0	A	10427780	G	A	10427780	2	1	29	1	0	0	0	0	0	0	0	1	9624	1136	40	1		1	MID1	23	10427780	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		10427780	144842780	86	23934											
SRPK3	26576	broad.mit.edu	37	chrX	153050236	153050236	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacggaagacatccagactcGgcagtaccgggccgtcgagg	14	13	0	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chrX:153050236G>T	ENST00000489426.1	+	18	3847	c.1481G>T	c.(1480-1482)cGg>cTg	p.R494L	SRPK3_ENST00000370104.1_Missense_Mutation_p.R426L|SRPK3_ENST00000370101.3_Missense_Mutation_p.R427L|SRPK3_ENST00000370108.3_Missense_Mutation_p.R394L|SRPK3_ENST00000393786.3_Missense_Mutation_p.R393L|SRPK3_ENST00000370100.1_Missense_Mutation_p.R352L			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	427	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)					ATCCAGACTCGGCAGTACCGG	0.692													4	317					2.56e-06	2.78528e-06	1	1	0	T	153050236	G	T	153050236	3	4	29	1	0	0	0	0	1	0	0	0	15217	1116	39	4	1326	4	SRPK3	23	153050236	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	142622456	153050236	2220324	87	23935											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000460170.2_Missense_Mutation_p.T857M|PTPRU_ENST00000428026.2_Missense_Mutation_p.T857M|PTPRU_ENST00000345512.3_Missense_Mutation_p.T867M|PTPRU_ENST00000323874.8_Missense_Mutation_p.T857M|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000356870.3_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													5	330					0	0	1	0	0	T	29630460	C	T	29630460	3	4	30	1	0	0	0	0	1	0	0	0	12865	536	19	1	2666	1	PTPRU	1	29630460	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08		29630460	219620161	1	23936			1	5		2	2	20	N	G_C	5.891922e-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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000460170.2_Silent_p.A863A|PTPRU_ENST00000428026.2_Silent_p.A863A|PTPRU_ENST00000345512.3_Silent_p.A873A|PTPRU_ENST00000323874.8_Silent_p.A863A|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000356870.3_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													5	343					0	0	1	0	0	A	29630479	G	A	29630479	2	1	30	1	0	0	0	0	0	0	0	1	12865	1103	39	1		1	PTPRU	1	29630479	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	19	29630479	219620142	2	23937			1	5		2	2	20	N	G_C	5.891922e-05
IPO13	9670	broad.mit.edu	37	chr1	44425920	44425922	+	Splice_Site	DEL	GGT	GGT	-													cacttcttcctgtgccttcaGgtggtggtggtgctgcagca							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:44425920_44425922delGGT	ENST00000372343.3	+	12	2690_2692	c.2028_splice	c.e12-1	p.P676_splice		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	676					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)				TGTGCCTTCAGGTGGTGGTGGTG	0.562													7	1198	---	---	---	---						-	44425922	GGT	-	44425920	8	5	30	1	0	1	0	1	0	0	1	0	7838	1014	35	0	2074	0	IPO13	1	44425920	Splice_Site	DEL	GGT	TCGA-IB-A5ST-01A-11D-A32N-08	14795441	44425920	204824701	3	23938											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-													ggccagaaggagcggcccccGcagcagcagcagcagcagca					rs113832855		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccg>cc	p.PQ37del	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	37					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						AGCGGCCCCCgcagcagcagcag	0.7													8	256	---	---	---	---						-	77334279	GCA	-	77334277	7	5	30	1	0	1	0	1	0	0	0	0	15283	1074	38	0	117	0	ST6GALNAC5	1	77334277	In_Frame_Del	DEL	GCA	TCGA-IB-A5ST-01A-11D-A32N-08	32908357	77334277	171916344	4	23939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:94543309G>A	ENST00000370225.3	-	11	1577	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	ABCA4_ENST00000535735.1_Silent_p.F497F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	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													9	505					0	0	1	0	0	A	94543309	G	A	94543309	2	1	30	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	17209032	94543309	154707312	5	23940											
EPS8L3	79574	broad.mit.edu	37	chr1	110300579	110300580	+	Frame_Shift_Ins	INS	-	-	T													actcacctccctggtccttgINSttttttttcccaaatttctt							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:110300579_110300580insT	ENST00000369805.3	-	9	1050_1051	c.821_822insA	c.(820-822)aaafs	p.K274fs	EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	273						cytoplasm	protein binding	p.N274fs*33(2)		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)		CCTGGTCCTTGTTTTTTTTCCC	0.545													7	599	---	---	---	---						T	110300580	-	T	110300579	7	5	30	1	0	1	1	0	0	0	0	0	5225	1368	48	0	1006	0	EPS8L3	1	110300579	Frame_Shift_Ins	INS	-	TCGA-IB-A5ST-01A-11D-A32N-08	15757270	110300579	138950042	6	23941											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:110458293T>C	ENST00000329608.6	+	3	591	c.200T>C	c.(199-201)tTt>tCt	p.F67S	CSF1_ENST00000526001.1_3'UTR|CSF1_ENST00000420111.2_Missense_Mutation_p.F67S|CSF1_ENST00000369801.1_Missense_Mutation_p.F67S|CSF1_ENST00000369802.3_Missense_Mutation_p.F67S|CSF1_ENST00000344188.5_Missense_Mutation_p.F67S	NM_000757.5|NM_172211.3	NP_000748.3|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													6	328					0	0	1	0	0	C	110458293	T	C	110458293	3	2	30	1	0	0	0	0	1	0	0	0	3956	1841	64	3	210	3	CSF1	1	110458293	Missense_Mutation	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08	157714	110458293	138792328	7	23942											
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-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:152282617G>A	ENST00000368799.1	-	3	4780	c.4745C>T	c.(4744-4746)gCg>gTg	p.A1582V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_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				6	978					0	0	1	0	0	A	152282617	G	A	152282617	3	1	30	1	0	0	0	0	1	0	0	0	5955	1087	38	1	7444	1	FLG	1	152282617	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	41824324	152282617	96968004	8	23943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:154072575C>T	ENST00000368559.3	-	14	1935	c.1864G>A	c.(1864-1866)Gca>Aca	p.A622T	NUP210L_ENST00000271854.3_Missense_Mutation_p.A622T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	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													16	439					0	0	1	0	0	T	154072575	C	T	154072575	3	4	30	1	0	0	0	0	1	0	0	0	10809	768	27	1	3910	1	NUP210L	1	154072575	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	1789958	154072575	95178046	9	23944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CAPN9_ENST00000366666.2_Missense_Mutation_p.G546S|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.G609S|CAPN9_ENST00000480004.1_3'UTR|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													23	611					0	0	1	0	0	A	230928629	G	A	230928629	3	1	30	1	0	0	0	0	1	0	0	0	2650	1116	39	1	1891	1	CAPN9	1	230928629	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	76856054	230928629	18321992	10	23945											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:248309150G>A	ENST00000366476.1	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	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													27	808					0	0	1	0	0	A	248309150	G	A	248309150	3	1	30	1	0	0	0	0	1	0	0	0	11061	1145	40	1	703	1	OR2M5	1	248309150	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	17380521	248309150	941471	11	23946											
OTOF	9381	broad.mit.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-													tctggctcctccgcagtgccCttcttcttcttcttcttctc							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)del	p.K1310del	OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				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)					CCGCAGTGCCcttcttcttcttc	0.576													7	312	---	---	---	---						-	26693556	CTT	-	26693554	7	5	30	1	0	1	0	1	0	0	0	0	11350	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-IB-A5ST-01A-11D-A32N-08		26693554	216505819	12	23947											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:27804824G>C	ENST00000408964.2	+	1	5436	c.5385G>C	c.(5383-5385)gaG>gaC	p.E1795D		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													21	666					0	0	1	0	0	C	27804824	G	C	27804824	3	2	30	1	0	0	0	0	1	0	0	0	2171	933	33	5	5387	5	C2orf16	2	27804824	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	1111270	27804824	215394549	13	23948											
DHX57	90957	broad.mit.edu	37	chr2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-													cctttctgttgccgccacctCcaccaccaccaccaccgcca							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)gga>gg	p.GG47del		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	47	Gly-rich.						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)				Gccgccacctccaccaccaccac	0.532													7	335	---	---	---	---						-	39095413	CCA	-	39095411	7	5	30	1	0	1	0	1	0	0	0	0	4541	855	30	0	4115	0	DHX57	2	39095411	In_Frame_Del	DEL	CCA	TCGA-IB-A5ST-01A-11D-A32N-08	11290587	39095411	204103962	14	23949											
STK36	27148	broad.mit.edu	37	chr2	219562684	219562684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccttataggtgtcttggCcgacctcagggactcagaag	11	12	3	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:219562684C>T	ENST00000295709.3	+	25	3296	c.3017C>T	c.(3016-3018)gCc>gTc	p.A1006V	STK36_ENST00000392105.3_Missense_Mutation_p.A985V|STK36_ENST00000392106.2_Missense_Mutation_p.A985V|STK36_ENST00000440309.1_Missense_Mutation_p.A1006V	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1006					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)		GGTGTCTTGGCCGACCTCAGG	0.547													5	505					0	0	1	0	0	T	219562684	C	T	219562684	3	4	30	1	0	0	0	0	1	0	0	0	15358	739	26	2	3111	2	STK36	2	219562684	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	180467273	219562684	23636689	15	23950											
CCR3	1232	broad.mit.edu	37	chr3	46306948	46306948	+	Frame_Shift_Del	DEL	T	T	-													tgtcagggggcataactgggTttttggccatggcatgtgta							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr3:46306948delT	ENST00000357422.2	+	4	842	c.299delT	c.(298-300)gtfs	p.V100fs	CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	100					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)		CATAACTGGGTTTTTGGCCAT	0.488													7	1100	---	---	---	---						-	46306948	T	-	46306948	7	5	30	1	0	1	0	1	0	0	0	0	2964	1725	60	0	368	0	CCR3	3	46306948	Frame_Shift_Del	DEL	T	TCGA-IB-A5ST-01A-11D-A32N-08		46306948	151715482	16	23951											
KNG1	3827	broad.mit.edu	37	chr3	186456969	186456969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagtaatgaagagttgaccGaaagctgtgagaccaaaaaa	10	5	0	4			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr3:186456969G>A	ENST00000265023.4	+	8	1224	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.E338K|KNG1_ENST00000447445.1_Missense_Mutation_p.E302K	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	338	Cystatin 3.				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)	AGAGTTGACCGAAAGCTGTGA	0.383													4	125					0	0	1	0	0	A	186456969	G	A	186456969	3	1	30	1	0	0	0	0	1	0	0	0	8470	1059	37	1	1042	1	KNG1	3	186456969	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	140150021	186456969	11565461	17	23952											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr4:25674740G>A	ENST00000382051.3	+	10	1130	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P	SLC34A2_ENST00000504570.1_Silent_p.P359P|SLC34A2_ENST00000503434.1_Silent_p.P359P	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	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								14	451					0	0	1	0	0	A	25674740	G	A	25674740	2	1	30	1	0	0	0	0	0	0	0	1	14623	1103	39	1		1	SLC34A2	4	25674740	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		25674740	165479536	18	23953											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr4:100870830G>A	ENST00000296417.5	-	2	288	c.71C>T	c.(70-72)gCc>gTc	p.A24V	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													6	611					0	0	1	0	0	A	100870830	G	A	100870830	3	1	30	1	0	0	0	0	1	0	0	0	6972	1203	42	2	331	2	H2AFZ	4	100870830	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	75196090	100870830	90283446	19	23954											
CPE	1363	broad.mit.edu	37	chr4	166405633	166405633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttccaaagcttggcccggGcatactcttctttcaacccg	7	14	3	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr4:166405633G>A	ENST00000402744.4	+	5	1130	c.850G>A	c.(850-852)Gca>Aca	p.A284T		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	284					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	p.A284T(1)		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)	CTTGGCCCGGGCATACTCTTC	0.498													7	992					0	0	1	0	0	A	166405633	G	A	166405633	3	1	30	1	0	0	0	0	1	0	0	0	3822	1203	42	2	868	2	CPE	4	166405633	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	65534803	166405633	24748643	20	23955											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:9629467C>T	ENST00000382492.2	-	1	996	c.678G>A	c.(676-678)gcG>gcA	p.A226A	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	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													5	234					0	0	1	0	0	T	9629467	C	T	9629467	2	4	30	1	0	0	0	0	0	0	0	1	15622	523	19	1		1	TAS2R1	5	9629467	Silent	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08		9629467	171285793	21	23956											
DNAH5	1767	broad.mit.edu	37	chr5	13811854	13811854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taagttctggatacagaagcGatacaagtctgggaaagact	11	6	2	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:13811854G>A	ENST00000265104.4	-	44	7413	c.7309C>T	c.(7309-7311)Cgc>Tgc	p.R2437C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2437	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)					ATACAGAAGCGATACAAGTCT	0.453									Kartagener syndrome				5	323					0	0	1	0	0	A	13811854	G	A	13811854	3	1	30	1	0	0	0	0	1	0	0	0	4632	1058	37	1	6709	1	DNAH5	5	13811854	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	4182387	13811854	167103406	22	23957											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:79855633T>C	ENST00000338682.3	-	5	878	c.206A>G	c.(205-207)tAc>tGc	p.Y69C		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	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													19	604					0	0	1	0	0	C	79855633	T	C	79855633	3	2	30	1	0	0	0	0	1	0	0	0	658	1638	57	3	1342	3	ANKRD34B	5	79855633	Missense_Mutation	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08	66043779	79855633	101059627	23	23958											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:101576467G>A	ENST00000310954.6	-	11	2117	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W		NM_180991.4	NP_851322.3	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													10	475					0	0	1	0	0	A	101576467	G	A	101576467	3	1	30	1	0	0	0	0	1	0	0	0	14785	1144	40	1	355	1	SLCO4C1	5	101576467	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	21720834	101576467	79338793	24	23959											
FSTL4	23105	broad.mit.edu	37	chr5	132537712	132537712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgaggtgctggctctggCcggtgctggcttctgtgatc	17	9	2	2	rs143064419	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:132537712C>T	ENST00000265342.7	-	15	1988	c.1739G>A	c.(1738-1740)gGc>gAc	p.G580D	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	580						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)			CTGGCTCTGGCCGGTGCTGGC	0.567													5	517					0	0	1	0	0	T	132537712	C	T	132537712	3	4	30	1	0	0	0	0	1	0	0	0	6114	739	26	2	797	2	FSTL4	5	132537712	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	30961245	132537712	48377548	25	23960											
HARS2	23438	broad.mit.edu	37	chr5	140075196	140075196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaaccatagtccaaggccGttatagggagttctgccagt	10	12	1	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:140075196G>A	ENST00000230771.3	+	5	726	c.503G>A	c.(502-504)cGt>cAt	p.R168H	HARS2_ENST00000435019.2_Missense_Mutation_p.R128H|HARS2_ENST00000448069.2_Intron|HARS2_ENST00000508522.1_Missense_Mutation_p.R143H|HARS2_ENST00000432671.2_Intron|HARS2_ENST00000437649.2_Intron	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	168					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity	p.R168H(2)		NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCAAGGCCGTTATAGGGAG	0.488													5	452					0	0	1	0	0	A	140075196	G	A	140075196	3	1	30	1	0	0	0	0	1	0	0	0	7001	1145	40	1	521	1	HARS2	5	140075196	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	7537484	140075196	40840064	26	23961											
PCDHB7	0	broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	16	13	0	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		526	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A526A(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)			CCCTGCAGGCGTTCGAGTTCC	0.706													6	511					3.86212e-05	3.99811e-05	1	1	0	T	140553994	G	T	140553994	2	4	30	1	0	0	0	0	0	0	0	1	11594	1132	40	4		4	PCDHB7	5	140553994	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	478798	140553994	40361266	27	23962											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000494967.1_5'UTR|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R965H|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R956H|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R960H|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R944H|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R968H|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R959H|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R911H			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													5	251					0	0	1	0	0	T	140908384	C	T	140908384	3	4	30	1	0	0	0	0	1	0	0	0	4546	536	19	1	943	1	DIAPH1	5	140908384	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	354390	140908384	40006876	28	23963											
JAKMIP2	9832	broad.mit.edu	37	chr5	147019206	147019206	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacactaaccttggcttctcGttcagcgtcgatgatgcctc	8	14	2	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:147019206G>A	ENST00000265272.5	-	10	1986	c.1519C>T	c.(1519-1521)Cga>Tga	p.R507*	JAKMIP2_ENST00000507386.1_Nonsense_Mutation_p.R507*|JAKMIP2_ENST00000333010.6_Nonsense_Mutation_p.R465*	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	507						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)			TTGGCTTCTCGTTCAGCGTCG	0.443													8	1152					0	0	1	0	0	A	147019206	G	A	147019206	4	1	30	1	0	0	0	0	0	1	0	0	7985	1153	40	1	961	1	JAKMIP2	5	147019206	Nonsense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	6110822	147019206	33896054	29	23964											
TCOF1	6949	broad.mit.edu	37	chr5	149777931	149777932	+	Frame_Shift_Ins	INS	-	-	A													cttaggaaaaaaagacaaagINSaaaaaaaagaaaagaagaag							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:149777931_149777932insA	ENST00000451292.1	+	26	4576_4577	c.4468_4469insA	c.(4468-4470)aaafs	p.K1490fs	TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.K1453fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.K1454fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.K1377fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.K1376fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.K1416fs|TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.K1453fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1453					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)			aaaagacaaagaaaaaaaagaa	0.421													7	270	---	---	---	---						A	149777932	-	A	149777931	7	5	30	1	0	1	1	0	0	0	0	0	15768	943	33	0	4480	0	TCOF1	5	149777931	Frame_Shift_Ins	INS	-	TCGA-IB-A5ST-01A-11D-A32N-08	2758725	149777931	31137329	30	23965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:63990012G>A	ENST00000370657.4	-	4	1477	c.1444C>T	c.(1444-1446)Cga>Tga	p.R482*	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	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													8	280					0	0	1	0	0	A	63990012	G	A	63990012	4	1	30	1	0	0	0	0	0	1	0	0	8799	1066	37	1	89	1	LGSN	6	63990012	Nonsense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		63990012	107125055	31	23966											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	840					0	0	1	0	0	A	157528497	G	A	157528497	2	1	30	1	0	0	0	0	0	0	0	1	911	1103	39	1		1	ARID1B	6	157528497	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	93538485	157528497	13586570	32	23967											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr7:43484703G>A	ENST00000395891.1	+	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	644					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													6	140					0	0	1	0	0	A	43484703	G	A	43484703	2	1	30	1	0	0	0	0	0	0	0	1	7083	1103	39	1		1	HECW1	7	43484703	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		43484703	115653960	33	23968											
URGCP	55665	broad.mit.edu	37	chr7	43917131	43917131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccaagcctgggaagtggGcaaaacgcctctggcctgcc	14	13	1	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr7:43917131G>A	ENST00000336086.6	-	4	4038	c.1802C>T	c.(1801-1803)gCc>gTc	p.A601V	URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Missense_Mutation_p.A601V|URGCP_ENST00000453200.1_Missense_Mutation_p.A644V|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000443736.1_Missense_Mutation_p.A601V|URGCP_ENST00000402306.3_Missense_Mutation_p.A635V|URGCP_ENST00000223341.7_Missense_Mutation_p.A601V			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	644				D -> G (in Ref. 6; BAA91312).	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						TGGGAAGTGGGCAAAACGCCT	0.627													5	186					0	0	1	0	0	A	43917131	G	A	43917131	3	1	30	1	0	0	0	0	1	0	0	0	17086	1203	42	2	868	2	URGCP	7	43917131	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	432428	43917131	115221532	34	23969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)gaa>g	p.EK1132del	AEBP1_ENST00000450684.2_In_Frame_Del_p.EK707del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1132	Glu-rich.|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						gaggaggaggagaaagaggagga	0.552													7	214	---	---	---	---						-	44153780	AGA	-	44153778	7	5	30	1	0	1	0	1	0	0	0	0	348	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-IB-A5ST-01A-11D-A32N-08	236647	44153778	114984885	35	23970											
CSMD1	64478	broad.mit.edu	37	chr8	2823355	2823355	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtacagcgaatagtggcGgatgtgactgcttccatgac	13	8	0	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr8:2823355G>A	ENST00000602557.1	-	60	9780	c.9225C>T	c.(9223-9225)tcC>tcT	p.S3075S	CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000520002.1_Silent_p.S3075S|CSMD1_ENST00000537824.1_Silent_p.S3074S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3075	Sushi 24.					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)		GAATAGTGGCGGATGTGACTG	0.473													3	62					0	0	1	0	0	A	2823355	G	A	2823355	2	1	30	1	0	0	0	0	0	0	0	1	3969	1103	39	1		1	CSMD1	8	2823355	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		2823355	143540667	36	23971											
ESCO2	157570	broad.mit.edu	37	chr8	27634576	27634577	+	Frame_Shift_Ins	INS	-	-	A													tgatgtagagactgtcagtgINSaaaaaaaaacttttgcgaca					rs80359854		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr8:27634576_27634577insA	ENST00000305188.8	+	3	989_990	c.751_752insA	c.(751-753)aaafs	p.K251fs	ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	251					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)		GACTGTCAGTGAAAAAAAAACT	0.396									SC Phocomelia syndrome				8	216	---	---	---	---						A	27634577	-	A	27634576	7	5	30	1	0	1	1	0	0	0	0	0	5277	1291	45	0	757	0	ESCO2	8	27634576	Frame_Shift_Ins	INS	-	TCGA-IB-A5ST-01A-11D-A32N-08	24811221	27634576	118729446	37	23972											
EPPK1	83481	broad.mit.edu	37	chr8	144940325	144940325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatctcctcgtcgaagtagCcgcgccggtaggccacgtcc	11	16	2	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr8:144940325C>T	ENST00000525985.1	-	2	7168	c.7097G>A	c.(7096-7098)gGc>gAc	p.G2366D				P58107	EPIPL_HUMAN	epiplakin 1	2366						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)			GTCGAAGTAGCCGCGCCGGTA	0.687													9	1729					0	0	1	0	0	T	144940325	C	T	144940325	3	4	30	1	0	0	0	0	1	0	0	0	5218	739	26	2	169	2	EPPK1	8	144940325	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	117305749	144940325	1423697	38	23973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	509					0	0	1	0	0	A	79320990	G	A	79320990	3	1	30	1	0	0	0	0	1	0	0	0	12690	1087	38	1	3114	1	PRUNE2	9	79320990	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		79320990	61892441	39	23974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:99227683C>T	ENST00000375249.4	+	3	652	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2	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													6	422					0	0	1	0	0	T	99227683	C	T	99227683	3	4	30	1	0	0	0	0	1	0	0	0	6980	768	27	1	587	1	HABP4	9	99227683	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	19906693	99227683	41985748	40	23975											
OBP2B	29989	broad.mit.edu	37	chr9	136081795	136081795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcccggttggtatcagAattcctacctgcaggtgagg	13	11	1	2	rs1132279		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:136081795A>G	ENST00000372034.3	-	5	438	c.397T>C	c.(397-399)Tct>Cct	p.S133P	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	133					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	p.S133P(2)		central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TTGGTATCAGAATTCCTACCT	0.612													7	230					0	0	1	0	0	G	136081795	A	G	136081795	3	3	30	1	0	0	0	0	1	0	0	0	10859	246	9	3	123	3	OBP2B	9	136081795	Missense_Mutation	SNP	A	TCGA-IB-A5ST-01A-11D-A32N-08	36854112	136081795	5131636	41	23976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:136310876G>A	ENST00000371929.3	+	21	3111	c.2667G>A	c.(2665-2667)acG>acA	p.T889T	ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.T858T|ADAMTS13_ENST00000355699.2_Silent_p.T889T	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													5	231					0	0	1	0	0	A	136310876	G	A	136310876	2	1	30	1	0	0	0	0	0	0	0	1	257	1103	39	1		1	ADAMTS13	9	136310876	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	229081	136310876	4902555	42	23977											
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-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:139944405G>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)	5	368					0	0	1	0	0	A	139944405	G	A	139944405	3	1	30	1	0	0	0	0	1	0	0	0	5167	1086	38	1	433	1	ENTPD2	9	139944405	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	3633529	139944405	1269026	43	23978											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:7679231C>T	ENST00000256861.6	-	5	690	c.612G>A	c.(610-612)ccG>ccA	p.P204P	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Silent_p.P204P|ITIH5_ENST00000397146.2_Silent_p.P204P|ITIH5_ENST00000434980.1_5'UTR	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													21	603					0	0	1	0	0	T	7679231	C	T	7679231	2	4	30	1	0	0	0	0	0	0	0	1	7951	755	27	1		1	ITIH5	10	7679231	Silent	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08		7679231	127855516	44	23979											
SYNPO2L	79933	broad.mit.edu	37	chr10	75406859	75406859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttgatagggctgatgccGcataaaatctagagccttga	11	7	1	4			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:75406859G>A	ENST00000394810.2	-	4	2700	c.2551C>T	c.(2551-2553)Cgg>Tgg	p.R851W	SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	851	Pro-rich.					cytoplasm|cytoskeleton	actin binding	p.R627W(2)|p.R851W(1)		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)					GGCTGATGCCGCATAAAATCT	0.577													5	458					0	0	1	0	0	A	75406859	G	A	75406859	3	1	30	1	0	0	0	0	1	0	0	0	15515	1086	38	1	386	1	SYNPO2L	10	75406859	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	67727628	75406859	60127888	45	23980											
PLAU	5328	broad.mit.edu	37	chr10	75673298	75673298	+	Splice_Site	DEL	A	A	-													ccctctgtttgtcctccaggAaaaaagccctcctctcctcc							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:75673298delA	ENST00000446342.1	+	6	893	c.409_splice	c.e6-1	p.G137_splice	PLAU_ENST00000372762.4_Splice_Site_p.G118_splice|C10orf55_ENST00000412307.2_Intron|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Splice_Site_p.G154_splice	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	154	Kringle.				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)	GTCCTCCAGGAAAAAAGCCCT	0.517													8	1303	---	---	---	---						-	75673298	A	-	75673298	8	5	30	1	0	1	0	1	0	0	1	0	12070	260	9	0	522	0	PLAU	10	75673298	Splice_Site	DEL	A	TCGA-IB-A5ST-01A-11D-A32N-08	266439	75673298	59861449	46	23981											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:99118343G>A	ENST00000370992.4	-	33	3853	c.3742C>T	c.(3742-3744)Ccg>Tcg	p.P1248S	RRP12_ENST00000315563.6_Missense_Mutation_p.P1148S|RRP12_ENST00000536831.1_Missense_Mutation_p.P966S|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.P1187S	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													7	1002					0	0	1	0	0	A	99118343	G	A	99118343	3	1	30	1	0	0	0	0	1	0	0	0	13738	1203	42	2	159	2	RRP12	10	99118343	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	23445045	99118343	36416404	47	23982											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:114185121G>A	ENST00000393081.1	+	18	1926	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H	ACSL5_ENST00000354655.4_Missense_Mutation_p.R540H|ACSL5_ENST00000354273.4_Missense_Mutation_p.R540H|ACSL5_ENST00000356116.1_Missense_Mutation_p.R596H|ACSL5_ENST00000433418.1_Missense_Mutation_p.R540H|ACSL5_ENST00000369410.3_Missense_Mutation_p.R322H	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													4	233					0	0	1	0	0	A	114185121	G	A	114185121	3	1	30	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	15066778	114185121	21349626	48	23983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:124273731C>A	ENST00000368984.3	+	9	1427	c.1299C>A	c.(1297-1299)gtC>gtA	p.V433V		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	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													17	793					3.52763e-06	3.70401e-06	1	1	0	A	124273731	C	A	124273731	2	1	30	1	0	0	0	0	0	0	0	1	7497	813	29	2		2	HTRA1	10	124273731	Silent	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	10088610	124273731	11261016	49	23984											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:792328C>T	ENST00000320230.5	-	8	1199	c.718G>A	c.(718-720)Gct>Act	p.A240T	SLC25A22_ENST00000531214.1_Missense_Mutation_p.A240T	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													13	564					0	0	1	0	0	T	792328	C	T	792328	3	4	30	1	0	0	0	0	1	0	0	0	14540	768	27	1	265	1	SLC25A22	11	792328	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08		792328	134214188	50	23985											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1628952	1628952	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggactgggaggagcAgggcttgcagcagctggact	18	9	0	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:1628952A>T	ENST00000399685.1	-	1	741	c.664T>A	c.(664-666)Tgc>Agc	p.C222S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	222	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)		TGGGAGGAGCAGGGCTTgcag	0.607													6	919					0	0	1	0	0	T	1628952	A	T	1628952	3	4	30	1	0	0	0	0	1	0	0	0	8602	188	7	5	56	5	KRTAP5-3	11	1628952	Missense_Mutation	SNP	A	TCGA-IB-A5ST-01A-11D-A32N-08	836624	1628952	133377564	51	23986											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:3697456T>C	ENST00000324932.7	-	33	5756	c.5336A>G	c.(5335-5337)tAt>tGt	p.Y1779C	NUP98_ENST00000355260.3_Missense_Mutation_p.Y1705C|NUP98_ENST00000359171.4_3'UTR	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	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								12	322					0	0	1	0	0	C	3697456	T	C	3697456	3	2	30	1	0	0	0	0	1	0	0	0	10821	1406	49	3	70	3	NUP98	11	3697456	Missense_Mutation	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08	2068504	3697456	131309060	52	23987											
SPON1	10418	broad.mit.edu	37	chr11	14063263	14063263	+	RNA	DEL	A	A	-													tttgtggtgtgattgcagggAaaaaaaaaaaagttctttac					rs113227652		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:14063263delA	ENST00000310358.7	+	0	1017							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)		GATTGCAGGGAAAAAAAAAAA	0.423													7	69	---	---	---	---						-	14063263	A	-	14063263	6	5	30	0	1	1	0	1	0	0	0	0	15138	261	9	0		0	SPON1	11	14063263	RNA	DEL	A	TCGA-IB-A5ST-01A-11D-A32N-08	10365807	14063263	120943253	53	23988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:46782199G>A	ENST00000529230.1	-	33	4403	c.4357C>T	c.(4357-4359)Cgc>Tgc	p.R1453C	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													6	215					0	0	1	0	0	A	46782199	G	A	46782199	3	1	30	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	32718936	46782199	88224317	54	23989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:55541693T>C	ENST00000361760.1	+	1	780	c.780T>C	c.(778-780)ctT>ctC	p.L260L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	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													4	251					0	0	1	0	0	C	55541693	T	C	55541693	2	2	30	1	0	0	0	0	0	0	0	1	11201	1828	64	3		3	OR5D13	11	55541693	Silent	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08	8759494	55541693	79464823	55	23990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:88911586C>A	ENST00000263321.5	+	1	967	c.465C>A	c.(463-465)acC>acA	p.T155T	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	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													19	493					3.32936e-07	3.59865e-07	1	1	0	A	88911586	C	A	88911586	2	1	30	1	0	0	0	0	0	0	0	1	16875	668	24	2		2	TYR	11	88911586	Silent	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	33369893	88911586	46094930	56	23991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:92715132G>A	ENST00000257068.2	+	2	749	c.743G>A	c.(742-744)cGg>cAg	p.R248Q		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	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													5	302					0	0	1	0	0	A	92715132	G	A	92715132	3	1	30	1	0	0	0	0	1	0	0	0	10000	1116	39	1	749	1	MTNR1B	11	92715132	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	3803546	92715132	42291384	57	23992											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000533265.1_Silent_p.R252R|LAYN_ENST00000375615.3_Silent_p.R260R|LAYN_ENST00000525126.1_Silent_p.R260R|LAYN_ENST00000375614.2_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													41	1414					0	0	1	0	0	G	111428363	A	G	111428363	2	3	30	1	0	0	0	0	0	0	0	1	8688	243	9	3		3	LAYN	11	111428363	Silent	SNP	A	TCGA-IB-A5ST-01A-11D-A32N-08	18713231	111428363	23578153	58	23993											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:121016448G>A	ENST00000392793.1	+	12	3999	c.3728G>A	c.(3727-3729)cGc>cAc	p.R1243H	TECTA_ENST00000264037.2_Missense_Mutation_p.R1243H|TECTA_ENST00000478058.1_3'UTR			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													9	331					0	0	1	0	0	A	121016448	G	A	121016448	3	1	30	1	0	0	0	0	1	0	0	0	15806	1087	38	1	3770	1	TECTA	11	121016448	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	9588085	121016448	13990068	59	23994											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:54858949C>T	ENST00000552397.1	-	3	915	c.19G>A	c.(19-21)Gac>Aac	p.D7N	RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000305879.5_Missense_Mutation_p.D7N|RP11-753H16.5_ENST00000552785.1_RNA|GTSF1_ENST00000552395.1_Intron			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	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													5	220					0	0	1	0	0	T	54858949	C	T	54858949	3	4	30	1	0	0	0	0	1	0	0	0	6927	884	31	1	508	1	GTSF1	12	54858949	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08		54858949	78992946	60	23995											
PLBD2	196463	broad.mit.edu	37	chr12	113821932	113821932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacactggagaccaccattgGcaacaagaacccagccctgt	9	14	0	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:113821932G>A	ENST00000280800.3	+	7	1011	c.980G>A	c.(979-981)gGc>gAc	p.G327D	PLBD2_ENST00000545182.2_Missense_Mutation_p.G327D	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	327					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ACCACCATTGGCAACAAGAAC	0.617													4	161					0	0	1	0	0	A	113821932	G	A	113821932	3	1	30	1	0	0	0	0	1	0	0	0	12074	1203	42	2	1006	2	PLBD2	12	113821932	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	58962983	113821932	20029963	61	23996											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379892.4_Missense_Mutation_p.K306T|DCLK1_ENST00000360631.3_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													6	441					0	0	1	0	0	G	36445384	T	G	36445384	3	3	30	1	0	0	0	0	1	0	0	0	4314	1609	56	3	1328	3	DCLK1	13	36445384	Missense_Mutation	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08		36445384	78724494	62	23997											
HEATR5A	25938	broad.mit.edu	37	chr14	31827866	31827866	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtttctcccacatgagcGcatacaaccccaaagagctt	7	13	1	3			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr14:31827866G>A	ENST00000543095.2	-	16	2572	c.2388C>T	c.(2386-2388)tgC>tgT	p.C796C	HEATR5A_ENST00000439348.1_Silent_p.C790C|HEATR5A_ENST00000404677.3_Silent_p.C796C|HEATR5A_ENST00000439727.1_Silent_p.C503C|HEATR5A_ENST00000389961.3_Silent_p.C790C	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	790							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)		CCACATGAGCGCATACAACCC	0.418													6	536					0	0	1	0	0	A	31827866	G	A	31827866	2	1	30	1	0	0	0	0	0	0	0	1	7072	1079	38	1		1	HEATR5A	14	31827866	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		31827866	75521674	63	23998											
CKB	1152	broad.mit.edu	37	chr14	103986552	103986552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgatatgcacacctgcccGcagcccggtgcccaggttgg	12	15	0	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr14:103986552G>A	ENST00000348956.2	-	7	1231	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	292	Phosphagen kinase C-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)	ACACCTGCCCGCAGCCCGGTG	0.562													5	190					0	0	1	0	0	A	103986552	G	A	103986552	3	1	30	1	0	0	0	0	1	0	0	0	3469	1086	38	1	279	1	CKB	14	103986552	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	72158686	103986552	3362988	64	23999											
DUOX1	53905	broad.mit.edu	37	chr15	45433222	45433222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtccttgaacaatttgtgCggctacgggatggtgaccgc	13	10	0	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr15:45433222C>T	ENST00000321429.4	+	14	1926	c.1519C>T	c.(1519-1521)Cgg>Tgg	p.R507W	DUOX1_ENST00000389037.3_Missense_Mutation_p.R507W|DUOX1_ENST00000561166.1_Missense_Mutation_p.R153W	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	507	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)		ACAATTTGTGCGGCTACGGGA	0.622													6	541					0	0	1	0	0	T	45433222	C	T	45433222	3	4	30	1	0	0	0	0	1	0	0	0	4826	759	27	1	1565	1	DUOX1	15	45433222	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08		45433222	57098170	65	24000											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr15:75968972T>A	ENST00000308508.5	-	10	5980	c.5888A>T	c.(5887-5889)cAg>cTg	p.Q1963L	CTD-2026K11.1_ENST00000569467.1_RNA	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													18	415					0	0	1	0	0	A	75968972	T	A	75968972	3	1	30	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	30535750	75968972	26562420	66	24001											
EIF3C	8663	broad.mit.edu	37	chr16	28734579	28734581	+	In_Frame_Del	DEL	GAG	GAG	-													ggaaatccaagcgcctggatGaggaggaggaggacaatgaa							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr16:28734579_28734581delGAG	ENST00000331666.6	+	9	1057_1059	c.871_873delGAG	c.(871-873)del	p.E294del	EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del			Q99613	EIF3C_HUMAN	eukaryotic translation initiation factor 3, subunit C	294	Poly-Glu.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(5)|skin(1)	6						GCGCCTGGATGAGGAGGAGGAGG	0.562													8	2755	---	---	---	---						-	28734581	GAG	-	28734579	7	5	30	1	0	1	0	1	0	0	0	0	5040	1291	45	0	3726	0	EIF3C	16	28734579	In_Frame_Del	DEL	GAG	TCGA-IB-A5ST-01A-11D-A32N-08		28734579	61620174	67	24002											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr16:31434506G>A	ENST00000389202.2	+	24	2901	c.2852G>A	c.(2851-2853)cGa>cAa	p.R951Q		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	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													5	175					0	0	1	0	0	A	31434506	G	A	31434506	3	1	30	1	0	0	0	0	1	0	0	0	7928	1058	37	1	2946	1	ITGAD	16	31434506	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	2699927	31434506	58920247	68	24003											
EDC4	23644	broad.mit.edu	37	chr16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-													ccccagatcactgcctctccCagcagcagcagcagcggtag							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)ccc>cc	p.PS612del		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	612	Ser-rich.				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)		CTGCCTCTCCcagcagcagcagc	0.611													7	347	---	---	---	---						-	67913769	CAG	-	67913767	7	5	30	1	0	1	0	1	0	0	0	0	4934	581	21	0	1898	0	EDC4	16	67913767	In_Frame_Del	DEL	CAG	TCGA-IB-A5ST-01A-11D-A32N-08	36479261	67913767	22440986	69	24004											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:4453441G>A	ENST00000254718.4	-	9	1537	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R411W			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	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													5	272					0	0	1	0	0	A	4453441	G	A	4453441	3	1	30	1	0	0	0	0	1	0	0	0	10056	1086	38	1	2867	1	MYBBP1A	17	4453441	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		4453441	76741769	70	24005											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_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)			9	254					0	0	1	0	0	A	7577539	G	A	7577539	3	1	30	1	0	0	0	0	1	0	0	0	16442	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	3124098	7577539	73617671	71	24006											
DNAH2	146754	broad.mit.edu	37	chr17	7644311	7644311	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcgacagagtcatgaccGtaagtgcctggccttctcca	10	13	2	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:7644311G>A	ENST00000572933.1	+	11	3149		c.e11+1		DNAH2_ENST00000570791.1_Splice_Site|DNAH2_ENST00000389173.2_Splice_Site|DNAH2_ENST00000082259.3_Splice_Site			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2						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)				AGTCATGACCGTAAGTGCCTG	0.592													5	261					0	0	1	0	0	A	7644311	G	A	7644311	5	1	30	1	0	0	0	0	0	0	1	0	4630	1159	40	1	1728	1	DNAH2	17	7644311	Splice_Site	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	66772	7644311	73550899	72	24007											
FBXW10	10517	broad.mit.edu	37	chr17	18675790	18675790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacataaagtggcagtatgCcgtggaaaaaacgaaacaaa	10	7	0	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:18675790C>T	ENST00000308799.4	+	11	2378	c.2159C>T	c.(2158-2160)gCc>gTc	p.A720V	FBXW10_ENST00000395667.1_Missense_Mutation_p.A691V|FBXW10_ENST00000573605.1_3'UTR|FBXW10_ENST00000301938.4_Missense_Mutation_p.A638V|FBXW10_ENST00000395665.4_Missense_Mutation_p.A691V			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	691										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						TGGCAGTATGCCGTggaaaaa	0.403													5	484					0	0	1	0	0	T	18675790	C	T	18675790	3	4	30	1	0	0	0	0	1	0	0	0	5796	739	26	2	2118	2	FBXW10	17	18675790	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	11031479	18675790	62519420	73	24008											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:21204188G>A	ENST00000342679.4	+	5	531	c.282G>A	c.(280-282)cgG>cgA	p.R94R	MAP2K3_ENST00000316920.6_Silent_p.R65R|MAP2K3_ENST00000361818.5_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													6	267					0	0	1	0	0	A	21204188	G	A	21204188	2	1	30	1	0	0	0	0	0	0	0	1	9288	1161	41	2		2	MAP2K3	17	21204188	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	2528398	21204188	59991022	74	24009			2	6		2	2	31	G		9.302877e-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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:21204218G>A	ENST00000342679.4	+	5	561	c.312G>A	c.(310-312)caG>caA	p.Q104Q	MAP2K3_ENST00000316920.6_Silent_p.Q75Q|MAP2K3_ENST00000361818.5_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													6	335					0	0	1	0	0	A	21204218	G	A	21204218	2	1	30	1	0	0	0	0	0	0	0	1	9288	933	33	2		2	MAP2K3	17	21204218	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	30	21204218	59990992	75	24010			2	6		2	2	31	G		9.302877e-05
STARD3	0	broad.mit.edu	37	chr17	37819133	37819133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctttcacctgcgacagcGcatcagcgagctgggggccc	13	15	2	0	rs35874339		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:37819133G>A	ENST00000336308.5	+	15	1528	c.1310G>A	c.(1309-1311)cGc>cAc	p.R437H	STARD3_ENST00000544210.2_Missense_Mutation_p.R437H|STARD3_ENST00000394250.4_Missense_Mutation_p.R419H|STARD3_ENST00000580611.1_Missense_Mutation_p.A419T	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	437	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)			CTGCGACAGCGCATCAGCGAG	0.667													6	574					0	0	1	0	0	A	37819133	G	A	37819133	3	1	30	1	0	0	0	0	1	0	0	0	15313	1087	38	1	1377	1	STARD3	17	37819133	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	16614915	37819133	43376077	76	24011											
WNK4	65266	broad.mit.edu	37	chr17	40946663	40946663	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accattacctgccctgcccgTccccctcccagacccatcca	4	23	0	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:40946663T>C	ENST00000246914.5	+	13	2348	c.2327T>C	c.(2326-2328)gTc>gCc	p.V776A		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	776					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)		GCCCTGCCCGTCCCCCTCCCA	0.592													4	163					0	0	1	0	0	C	40946663	T	C	40946663	3	2	30	1	0	0	0	0	1	0	0	0	17440	1667	58	3	2377	3	WNK4	17	40946663	Missense_Mutation	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08	3127530	40946663	40248547	77	24012											
SPAG9	9043	broad.mit.edu	37	chr17	49157025	49157025	+	Frame_Shift_Del	DEL	T	T	-													ccactcgggtctgtaagtccTttttttcctgttcttgagag							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:49157025delT	ENST00000262013.7	-	2	552	c.344delA	c.(343-345)agfs	p.K115fs	SPAG9_ENST00000357122.4_Frame_Shift_Del_p.K115fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.K115fs|RP11-481C4.1_ENST00000509833.1_RNA	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	115					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)			CTGTAAGTCCTTTTTTTCCTG	0.313													7	313	---	---	---	---						-	49157025	T	-	49157025	7	5	30	1	0	1	0	1	0	0	0	0	15041	1609	56	0	3737	0	SPAG9	17	49157025	Frame_Shift_Del	DEL	T	TCGA-IB-A5ST-01A-11D-A32N-08	8210362	49157025	32038185	78	24013											
XAB2	56949	broad.mit.edu	37	chr19	7687308	7687308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatacgcaggtccaggatgCggtcgtacacggccttggtg	15	11	0	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:7687308C>T	ENST00000358368.4	-	12	1563	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	XAB2_ENST00000534844.1_Missense_Mutation_p.R506H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	509					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						GTCCAGGATGCGGTCGTACAC	0.617								Direct reversal of damage;Nucleotide excision repair (NER)					6	633					0	0	1	0	0	T	7687308	C	T	7687308	3	4	30	1	0	0	0	0	1	0	0	0	17478	768	27	1	1073	1	XAB2	19	7687308	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08		7687308	51441675	79	24014											
ZNF563	147837	broad.mit.edu	37	chr19	12429554	12429554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgagctatgagataacgCtttcccacactgcttgcatt	8	11	0	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:12429554C>T	ENST00000293725.5	-	4	1490	c.1285G>A	c.(1285-1287)Gcg>Acg	p.A429T		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGAGATAACGCTTTCCCACAC	0.428													6	612					0	0	1	0	0	T	12429554	C	T	12429554	3	4	30	1	0	0	0	0	1	0	0	0	18051	797	28	2	149	2	ZNF563	19	12429554	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	4742246	12429554	46699429	80	24015											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:35850345C>T	ENST00000327809.4	+	2	754	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	FFAR3_ENST00000594310.1_Missense_Mutation_p.R185W	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	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													5	299					0	0	1	0	0	T	35850345	C	T	35850345	3	4	30	1	0	0	0	0	1	0	0	0	5862	759	27	1	555	1	FFAR3	19	35850345	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	23420791	35850345	23278638	81	24016											
ZNF227	7770	broad.mit.edu	37	chr19	44740778	44740778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtctcccctcaaatcttcGagtccacctgggtgttcaca	7	15	4	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:44740778G>A	ENST00000313040.7	+	6	2400	c.2195G>A	c.(2194-2196)cGa>cAa	p.R732Q	ZNF227_ENST00000391961.2_Missense_Mutation_p.R681Q|ZNF235_ENST00000589799.1_3'UTR|ZNF227_ENST00000589005.1_Missense_Mutation_p.R681Q	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	732					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)				TCAAATCTTCGAGTCCACCTG	0.498													5	360					0	0	1	0	0	A	44740778	G	A	44740778	3	1	30	1	0	0	0	0	1	0	0	0	17839	1058	37	1	2209	1	ZNF227	19	44740778	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	8890433	44740778	14388205	82	24017											
CCDC8	83987	broad.mit.edu	37	chr19	46914959	46914959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctctggtcagctggggccTctgccctctgattatctgca	10	14	5	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:46914959T>C	ENST00000307522.3	-	1	1882	c.1109A>G	c.(1108-1110)gAg>gGg	p.E370G		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	370						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)		AGCTGGGGCCTCTGCCCTCTG	0.607													7	935					0	0	1	0	0	C	46914959	T	C	46914959	3	2	30	1	0	0	0	0	1	0	0	0	2873	1551	54	3	511	3	CCDC8	19	46914959	Missense_Mutation	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08	2174181	46914959	12214024	83	24018											
NUCB1	4924	broad.mit.edu	37	chr19	49425109	49425111	+	In_Frame_Del	DEL	AGC	AGC	-													gctgcacatggagcagcggaAgcagcagcagcagcagcagc							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:49425109_49425111delAGC	ENST00000405315.4	+	12	1533_1535	c.1199_1201delAGC	c.(1198-1203)aag>a	p.KQ400del	NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000407032.1_In_Frame_Del_p.KQ400del|NUCB1_ENST00000263273.5_In_Frame_Del_p.KQ400del	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	400						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		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;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		Gagcagcggaagcagcagcagca	0.64													7	242	---	---	---	---						-	49425111	AGC	-	49425109	7	5	30	1	0	1	0	1	0	0	0	0	10766	72	3	0	1241	0	NUCB1	19	49425109	In_Frame_Del	DEL	AGC	TCGA-IB-A5ST-01A-11D-A32N-08	2510150	49425109	9703874	84	24019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538269.1_Missense_Mutation_p.A399V|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.A382V|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.A304V|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.A382V|KIR3DL1_ENST00000402254.2_Intron	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													7	490					0	0	1	0	0	T	55341591	C	T	55341591	3	4	30	1	0	0	0	0	1	0	0	0	8363	710	25	2	1230	2	KIR3DL1	19	55341591	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	5916482	55341591	3787392	85	24020											
KRTAP19-1	337882	broad.mit.edu	37	chr21	31852478	31852478	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagccagagccatatccGtagcttccaaagccagagcc	8	15	0	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr21:31852478G>A	ENST00000390689.2	-	1	185	c.159C>T	c.(157-159)taC>taT	p.Y53Y		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	53	26 X 2 AA repeats of G-[YCGS].					intermediate filament				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AGCCATATCCGTAGCTTCCAA	0.562													7	1264					0	0	1	0	0	A	31852478	G	A	31852478	2	1	30	1	0	0	0	0	0	0	0	1	8571	1140	40	1		1	KRTAP19-1	21	31852478	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		31852478	16277417	86	24021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP1-37E16.12_ENST00000455236.1_RNA	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													5	463					0	0	1	0	0	A	38084889	G	A	38084889	3	1	30	1	0	0	0	0	1	0	0	0	10569	971	34	2	285	2	NOL12	22	38084889	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		38084889	13219677	87	24022											
ZC3H7B	23264	broad.mit.edu	37	chr22	41753399	41753401	+	In_Frame_Del	DEL	CTG	CTG	-													cggtgccaccccagaagcccCtgctgctgctgccaccgcca							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr22:41753399_41753401delCTG	ENST00000352645.4	+	23	3157_3159	c.2900_2902delCTG	c.(2899-2904)cct>c	p.PA967del	ZC3H7B_ENST00000351589.4_In_Frame_Del_p.PA967del	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	983					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						CCAGAAGCCCCTGCTGCTGCTGC	0.65													7	765	---	---	---	---						-	41753401	CTG	-	41753399	7	5	30	1	0	1	0	1	0	0	0	0	17632	681	24	0	2986	0	ZC3H7B	22	41753399	In_Frame_Del	DEL	CTG	TCGA-IB-A5ST-01A-11D-A32N-08	3668510	41753399	9551167	88	24023											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:3242386G>A	ENST00000217939.6	-	5	1494	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	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													6	659					0	0	1	0	0	A	3242386	G	A	3242386	3	1	30	1	0	0	0	0	1	0	0	0	10051	1145	40	1	7158	1	MXRA5	23	3242386	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		3242386	152028174	89	24024											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:15768189delC	ENST00000318636.3	+	2	179	c.43delC	c.(43-45)cafs	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													20	575	---	---	---	---						-	15768189	C	-	15768189	7	5	30	1	0	1	0	1	0	0	0	0	2538	855	30	0	45	0	CA5B	23	15768189	Frame_Shift_Del	DEL	C	TCGA-IB-A5ST-01A-11D-A32N-08	12525803	15768189	139502371	90	24025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:22292036C>T	ENST00000323684.1	+	1	972	c.928C>T	c.(928-930)Cgt>Tgt	p.R310C		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	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													10	315					0	0	1	0	0	T	22292036	C	T	22292036	3	4	30	1	0	0	0	0	1	0	0	0	18118	884	31	1	930	1	ZNF645	23	22292036	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	6523847	22292036	132978524	91	24026											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:105855530G>A	ENST00000372548.4	+	1	329	c.220G>A	c.(220-222)Gtc>Atc	p.V74I	CXorf57_ENST00000372544.2_Missense_Mutation_p.V74I	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	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													5	437					0	0	1	0	0	A	105855530	G	A	105855530	3	1	30	1	0	0	0	0	1	0	0	0	4136	1145	40	1	222	1	CXorf57	23	105855530	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	83563494	105855530	49415030	92	24027											
SLC9A6	10479	broad.mit.edu	37	chrX	135067875	135067875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagccaccggcaggacagcGccaacctgctcatcttcatc	9	16	3	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:135067875G>A	ENST00000370695.4	+	1	249	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	SLC9A6_ENST00000370698.3_Missense_Mutation_p.A72T|SLC9A6_ENST00000370701.1_Missense_Mutation_p.A20T	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	72					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)					GCAGGACAGCGCCAACCTGCT	0.652													6	836					0	0	1	0	0	A	135067875	G	A	135067875	3	1	30	1	0	0	0	0	1	0	0	0	14773	1087	38	1	216	1	SLC9A6	23	135067875	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	29212345	135067875	20202685	93	24028											
MAGEC1	9947	broad.mit.edu	37	chrX	140993906	140993908	+	In_Frame_Del	DEL	CCT	CCT	-													tctccagattcctgtgagccCctcctcctcctccactttac					rs146816736	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:140993906_140993908delCCT	ENST00000285879.4	+	4	1002_1004	c.716_718delCCT	c.(715-720)ccc>c	p.PS239del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	239				P -> S (in Ref. 1 and 2).			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)					CCTGTGAGCCCCTCCTCCTCCTC	0.473										HNSCC(15;0.026)			7	1611	---	---	---	---						-	140993908	CCT	-	140993906	7	5	30	1	0	1	0	1	0	0	0	0	9230	623	22	0	722	0	MAGEC1	23	140993906	In_Frame_Del	DEL	CCT	TCGA-IB-A5ST-01A-11D-A32N-08	5926031	140993906	14276654	94	24029											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													5	243					0	0	1	0	0	A	150156360	G	A	150156360	2	1	30	1	0	0	0	0	0	0	0	1	7268	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	9162454	150156360	5114200	95	24030											
IL9R	3581	broad.mit.edu	37	chrX	155239821	155239821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcaacaacaacaactactgtg	9	13	0	0	rs140822242	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:155239821G>A	ENST00000424344.3	+	10	1617	c.1250G>A	c.(1249-1251)aGc>aAc	p.S417N	IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000244174.5_Missense_Mutation_p.S438N			Q01113	IL9R_HUMAN	interleukin 9 receptor	438					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)					agcagcagcagcaacaacaac	0.642													5	100					0	0	1	0	0	A	155239821	G	A	155239821	3	1	30	1	0	0	0	0	1	0	0	0	7752	971	34	2	1347	2	IL9R	23	155239821	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	5083461	155239821	30739	96	24031											
MMEL1	79258	broad.mit.edu	37	chr1	2527522	2527522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctccacaaacactgtccGcaccttgtcaatgagttctc	6	15	3	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:2527522G>A	ENST00000288709.6	-	15	1639	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	MMEL1_ENST00000502556.1_Missense_Mutation_p.R319W|MMEL1_ENST00000378412.3_Missense_Mutation_p.R476W	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	476					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)		AACACTGTCCGCACCTTGTCA	0.597													6	546					0	0	1	0	0	A	2527522	G	A	2527522	3	1	31	1	0	0	0	0	1	0	0	0	9694	1086	38	1	953	1	MMEL1	1	2527522	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		2527522	246723099	1	24032											
UBIAD1	29914	broad.mit.edu	37	chr1	11345759	11345759	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctcatcacttttggcccGctggctgtgatgttcgccta	9	13	2	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:11345759G>A	ENST00000376810.5	+	2	914	c.588G>A	c.(586-588)ccG>ccA	p.P196P	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	196					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		CTTTTGGCCCGCTGGCTGTGA	0.582													4	311					0	0	1	0	0	A	11345759	G	A	11345759	2	1	31	1	0	0	0	0	0	0	0	1	16946	1074	38	1		1	UBIAD1	1	11345759	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	8818237	11345759	237904862	2	24033											
CCDC28B	79140	broad.mit.edu	37	chr1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-													ctttccaaggaacccgtctaTgtgtgtgtgttcctgagagg							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tfs	p.C192fs	CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										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)				AACCCGTCTATGTGTGTGTGTT	0.5													12	719	---	---	---	---						-	32670248	TG	-	32670247	7	5	31	1	0	1	0	1	0	0	0	0	2822	1479	51	0		0	CCDC28B	1	32670247	Frame_Shift_Del	DEL	TG	TCGA-IB-A6UF-01A-23D-A33T-08	21324488	32670247	216580374	3	24034											
RSPO1	284654	broad.mit.edu	37	chr1	38095330	38095330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccacacacagcccaagccGcatagtcacgcgccagctcc	7	20	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:38095330G>A	ENST00000356545.2	-	4	791	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	RSPO1_ENST00000401069.1_Missense_Mutation_p.R2W|RSPO1_ENST00000373059.1_Intron|RSPO1_ENST00000401068.1_Missense_Mutation_p.R2W|RSPO1_ENST00000401070.1_Missense_Mutation_p.R2W|RSPO1_ENST00000401071.2_Missense_Mutation_p.R2W	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	2					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)				AGCCCAAGCCGCATAGTCACG	0.642													4	167					0	0	1	0	0	A	38095330	G	A	38095330	3	1	31	1	0	0	0	0	1	0	0	0	13761	1086	38	1	807	1	RSPO1	1	38095330	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	5425083	38095330	211155291	4	24035											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438120.1_Missense_Mutation_p.L272P|PTPRF_ENST00000372413.3_Missense_Mutation_p.L272P|PTPRF_ENST00000372414.3_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													46	103					0	0	1	0	0	C	44054537	T	C	44054537	3	2	31	1	0	0	0	0	1	0	0	0	12853	1551	54	3	837	3	PTPRF	1	44054537	Missense_Mutation	SNP	T	TCGA-IB-A6UF-01A-23D-A33T-08	5959207	44054537	205196084	5	24036											
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-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	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				5	482					0	0	1	0	0	A	45307637	G	A	45307637	2	1	31	1	0	0	0	0	0	0	0	1	12780	1079	38	1		1	PTCH2	1	45307637	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1253100	45307637	203942984	6	24037											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347													7	224	---	---	---	---						-	46184898	AC	-	46184897	7	5	31	1	0	1	0	1	0	0	0	0	7844	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-IB-A6UF-01A-23D-A33T-08	877260	46184897	203065724	7	24038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	331					0	0	1	0	0	A	114308998	G	A	114308998	2	1	31	1	0	0	0	0	0	0	0	1	13748	1079	38	1		1	RSBN1	1	114308998	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	68124101	114308998	134941623	8	24039											
YY1AP1	55249	broad.mit.edu	37	chr1	155646374	155646374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagtctcttcctttgtgCtgggtccagaatcagggtct	12	10	3	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:155646374C>T	ENST00000368340.5	-	4	811	c.703G>A	c.(703-705)Gca>Aca	p.A235T	YY1AP1_ENST00000311573.5_Missense_Mutation_p.A86T|YY1AP1_ENST00000368330.2_Missense_Mutation_p.A97T|YY1AP1_ENST00000295566.4_Missense_Mutation_p.A163T|YY1AP1_ENST00000347088.5_Missense_Mutation_p.A97T|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000355499.4_Missense_Mutation_p.A97T|YY1AP1_ENST00000361831.5_Missense_Mutation_p.A86T|YY1AP1_ENST00000407221.1_Missense_Mutation_p.A86T|YY1AP1_ENST00000405763.3_Missense_Mutation_p.A235T|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000404643.1_Missense_Mutation_p.A97T|YY1AP1_ENST00000535662.1_5'UTR|YY1AP1_ENST00000368339.5_Missense_Mutation_p.A235T|YY1AP1_ENST00000438245.2_Missense_Mutation_p.A97T|YY1AP1_ENST00000359205.5_Missense_Mutation_p.A86T|MSTO1_ENST00000538143.1_Intron	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)					TTCCTTTGTGCTGGGTCCAGA	0.448													6	853					0	0	1	0	0	T	155646374	C	T	155646374	3	4	31	1	0	0	0	0	1	0	0	0	17568	797	28	2	1991	2	YY1AP1	1	155646374	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	41337376	155646374	93604247	9	24040											
CADM3	57863	broad.mit.edu	37	chr1	159166718	159166718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagaaggagggcagtgtgCcacccctgaagatgacccag	16	10	0	4			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:159166718C>T	ENST00000368125.4	+	7	977	c.820C>T	c.(820-822)Cca>Tca	p.P274S	CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.P308S	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	274	Ig-like C2-type 2.				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)					GGGCAGTGTGCCACCCCTGAA	0.557													5	390					0	0	1	0	0	T	159166718	C	T	159166718	3	4	31	1	0	0	0	0	1	0	0	0	2586	739	26	2	952	2	CADM3	1	159166718	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	3520344	159166718	90083903	10	24041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545897.1_Missense_Mutation_p.R108W|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000367987.1_Missense_Mutation_p.R142W	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)	35	178					0	0	1	0	0	T	161197719	C	T	161197719	3	4	31	1	0	0	0	0	1	0	0	0	16419	875	31	1	442	1	TOMM40L	1	161197719	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	2031001	161197719	88052902	11	24042											
TMCO1	54499	broad.mit.edu	37	chr1	165712550	165712551	+	Splice_Site	INS	-	-	A													accactctaccatcaaatctINSaaaagaaaaaaaaaaaaaaa							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:165712550_165712551insA	ENST00000367881.5	-	6	752		c.e6-2		TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							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)					CCATCAAATCTAAAAGAAAAAA	0.381													11	289	---	---	---	---						A	165712551	-	A	165712550	8	5	31	1	0	1	1	0	0	0	1	0	16055	1536	53	0	252	0	TMCO1	1	165712550	Splice_Site	INS	-	TCGA-IB-A6UF-01A-23D-A33T-08	4514831	165712550	83538071	12	24043											
TNR	7143	broad.mit.edu	37	chr1	175331844	175331844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgctttcctccctgccccGcacgctgttgaggctgattt	9	16	0	2	rs150401432		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:175331844G>A	ENST00000367674.1	-	14	3517	c.2809C>T	c.(2809-2811)Cgg>Tgg	p.R937W	TNR_ENST00000263525.2_Missense_Mutation_p.R937W	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	937	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.R937W(1)		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)					TCCCTGCCCCGCACGCTGTTG	0.552													5	352					0	0	1	0	0	A	175331844	G	A	175331844	3	1	31	1	0	0	0	0	1	0	0	0	16398	1086	38	1	1307	1	TNR	1	175331844	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	9619294	175331844	73918777	13	24044											
SMG7	9887	broad.mit.edu	37	chr1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A													aatgcagcagcagcctctagINSaaaaaaaaatgaagcctttt							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:183515266_183515267insA	ENST00000367537.3	+	18	2680_2681	c.2485_2486insA	c.(2485-2487)aaafs	p.K829fs	SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.?(1)		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						GCAGCCTCTAGAAAAAAAAATG	0.45													13	428	---	---	---	---						A	183515267	-	A	183515266	7	5	31	1	0	1	1	0	0	0	0	0	14852	943	33	0	2602	0	SMG7	1	183515266	Frame_Shift_Ins	INS	-	TCGA-IB-A6UF-01A-23D-A33T-08	8183422	183515266	65735355	14	24045											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													61	244					0	0	1	0	0	T	192779364	C	T	192779364	3	4	31	1	0	0	0	0	1	0	0	0	13352	507	18	2	185	2	RGS2	1	192779364	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	9264098	192779364	56471257	15	24046											
GOLT1A	127845	broad.mit.edu	37	chr1	204170871	204170871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttcccttgagtttgtgCcgttggaagaagaaccaaaa	11	8	0	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:204170871C>T	ENST00000308302.3	-	3	371	c.186G>A	c.(184-186)cgG>cgA	p.R62R		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	62					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		p.R62R(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567													6	594					0	0	1	0	0	T	204170871	C	T	204170871	2	4	31	1	0	0	0	0	0	0	0	1	6609	726	26	2		2	GOLT1A	1	204170871	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	11391507	204170871	45079750	16	24047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360218.2_Silent_p.S297S|CTSE_ENST00000432969.2_Silent_p.S222S|CTSE_ENST00000358184.2_Missense_Mutation_p.V345M			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													197	671					0	0	1	0	0	A	206331027	G	A	206331027	3	1	31	1	0	0	0	0	1	0	0	0	4057	1145	40	1	1067	1	CTSE	1	206331027	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	2160156	206331027	42919594	17	24048											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													276	313					0	0	1	0	0	T	212798637	C	T	212798637	3	4	31	1	0	0	0	0	1	0	0	0	5642	768	27	1	420	1	FAM71A	1	212798637	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	6467610	212798637	36451984	18	24049											
LBR	3930	broad.mit.edu	37	chr1	225599059	225599059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccaatcaatccggggcGcaattcacaaaagtatttga	7	11	2	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:225599059G>A	ENST00000338179.2	-	9	1293	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	LBR_ENST00000272163.4_Missense_Mutation_p.R390C	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	390					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)		AATCCGGGGCGCAATTCACAA	0.353													5	474					0	0	1	0	0	A	225599059	G	A	225599059	3	1	31	1	0	0	0	0	1	0	0	0	8691	1087	38	1	703	1	LBR	1	225599059	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	12800422	225599059	23651562	19	24050											
ITPKB	3707	broad.mit.edu	37	chr1	226924704	226924704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctctgtgcctggatgtgCgcctcaaacatgcccacttt	10	13	2	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:226924704C>T	ENST00000429204.1	-	2	783	c.456G>A	c.(454-456)gcG>gcA	p.A152A	ITPKB_ENST00000272117.3_Silent_p.A152A|ITPKB_ENST00000366784.1_Silent_p.A152A	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	152							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.A152A(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CCTGGATGTGCGCCTCAAACA	0.667													6	703					0	0	1	0	0	T	226924704	C	T	226924704	2	4	31	1	0	0	0	0	0	0	0	1	7962	755	27	1		1	ITPKB	1	226924704	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	1325645	226924704	22325917	20	24051											
FMN2	56776	broad.mit.edu	37	chr1	240371196	240371196	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccccctctacccggagcGggcataccccctccgccccc	7	25	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:240371196G>A	ENST00000319653.9	+	5	3314	c.3084G>A	c.(3082-3084)gcG>gcA	p.A1028A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1028	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)			TACCCGGAGCGGGCATACCCC	0.741													6	159					0	0	1	0	0	A	240371196	G	A	240371196	2	1	31	1	0	0	0	0	0	0	0	1	5983	1103	39	1		1	FMN2	1	240371196	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	13446492	240371196	8879425	21	24052											
RANBP2	5903	broad.mit.edu	37	chr2	109371669	109371669	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctcgatgggcagaagatcAgaattctttactgaaaatga	9	7	2	5			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:109371669A>G	ENST00000283195.6	+	17	2546	c.2420A>G	c.(2419-2421)cAg>cGg	p.Q807R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	807					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						GCAGAAGATCAGAATTCTTTA	0.333													7	702					0	0	1	0	0	G	109371669	A	G	109371669	3	3	31	1	0	0	0	0	1	0	0	0	13080	188	7	3	2486	3	RANBP2	2	109371669	Missense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08		109371669	133827704	22	24053			1	7		2	2	17	A		6.977243e-05
RANBP2	5903	broad.mit.edu	37	chr2	109371685	109371685	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatcagaattctttactgaaAatgatttgccaacaagtaga	7	6	2	4			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:109371685A>T	ENST00000283195.6	+	17	2562	c.2436A>T	c.(2434-2436)aaA>aaT	p.K812N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	812					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						CTTTACTGAAAATGATTTGCC	0.348													7	660					0	0	1	0	0	T	109371685	A	T	109371685	3	4	31	1	0	0	0	0	1	0	0	0	13080	11	1	5	2502	5	RANBP2	2	109371685	Missense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	16	109371685	133827688	23	24054			1	7		2	2	17	A		6.977243e-05
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	206					0	0	1	0	0	A	176981813	G	A	176981813	2	1	31	1	0	0	0	0	0	0	0	1	7360	1045	37	1		1	HOXD10	2	176981813	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	67610128	176981813	66217560	24	24055											
GRIP2	80852	broad.mit.edu	37	chr3	14555277	14555277	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctcggtggcaatgccaTtgatggacaggacacggtcc	13	12	0	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:14555277T>C	ENST00000273083.3	-	0	1599							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						GGCAATGCCATTGATGGACAG	0.637													4	81					0	0	1	0	0	C	14555277	T	C	14555277	1	2	31	0	1	0	0	0	0	0	0	0	6829	1493	52	3		3	GRIP2	3	14555277	RNA	SNP	T	TCGA-IB-A6UF-01A-23D-A33T-08		14555277	183467153	25	24056											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	150					0	0	1	0	0	A	38938452	G	A	38938452	3	1	31	1	0	0	0	0	1	0	0	0	13967	1116	39	1	3140	1	SCN11A	3	38938452	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	24383175	38938452	159083978	26	24057											
FYCO1	79443	broad.mit.edu	37	chr3	46009639	46009639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctgcatctcctgggccGcatcactgggaataggttct	11	13	3	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:46009639G>A	ENST00000296137.2	-	8	1392	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A396V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	396					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)		CTCCTGGGCCGCATCACTGGG	0.567													7	904					0	0	1	0	0	A	46009639	G	A	46009639	3	1	31	1	0	0	0	0	1	0	0	0	6160	1087	38	1	3293	1	FYCO1	3	46009639	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	7071187	46009639	152012791	27	24058											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	299					0	0	1	0	0	A	46401296	G	A	46401296	3	1	31	1	0	0	0	0	1	0	0	0	2963	1174	41	2	1218	2	CCR2	3	46401296	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	391657	46401296	151621134	28	24059											
STAB1	23166	broad.mit.edu	37	chr3	52555461	52555461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgggcagtgtctgtgccGttcaggttttgctgggacag	16	8	2	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:52555461G>A	ENST00000321725.6	+	56	6069	c.5993G>A	c.(5992-5994)cGt>cAt	p.R1998H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1998	Laminin EGF-like 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)		TGTCTGTGCCGTTCAGGTTTT	0.647													5	357					0	0	1	0	0	A	52555461	G	A	52555461	3	1	31	1	0	0	0	0	1	0	0	0	15293	1145	40	1	6215	1	STAB1	3	52555461	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	6154165	52555461	145466969	29	24060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000465304.1_Splice_Site|PARP15_ENST00000493645.1_Intron|PARP15_ENST00000483793.1_Intron	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													47	132	---	---	---	---						-	122345673	G	-	122345673	8	5	31	1	0	1	0	1	0	0	1	0	11506	1014	35	0	1334	0	PARP15	3	122345673	Splice_Site	DEL	G	TCGA-IB-A6UF-01A-23D-A33T-08	69790212	122345673	75676757	30	24061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	114					0	0	1	0	0	A	126268739	G	A	126268739	3	1	31	1	0	0	0	0	1	0	0	0	2229	1087	38	1	31	1	C3orf22	3	126268739	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	3923066	126268739	71753691	31	24062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	461					0	0	1	0	0	A	130744081	G	A	130744081	3	1	31	1	0	0	0	0	1	0	0	0	1061	1086	38	1	1985	1	ASTE1	3	130744081	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	4475342	130744081	67278349	32	24063											
TMEM175	84286	broad.mit.edu	37	chr4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-													ctctgggcatcttcttgttcTgtgtgtgtgtgatcgccatt							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tfs	p.C144fs	TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						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)			CTTCTTGTTCTGTGTGTGTGTG	0.515													7	775	---	---	---	---						-	946207	TG	-	946206	7	5	31	1	0	1	0	1	0	0	0	0	16151	1580	55	0	452	0	TMEM175	4	946206	Frame_Shift_Del	DEL	TG	TCGA-IB-A6UF-01A-23D-A33T-08		946206	190208070	33	24064											
LIAS	11019	broad.mit.edu	37	chr4	39462463	39462464	+	Frame_Shift_Ins	INS	-	-	A													cgttaagctccttgccagatINSaaaaaaaaggaactcctaca							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:39462463_39462464insA	ENST00000261434.3	+	2	217_218	c.99_100insA	c.(97-102)gaaaaafs	p.EK33fs	LIAS_ENST00000513731.1_Frame_Shift_Ins_p.EK33fs|LIAS_ENST00000381846.1_Frame_Shift_Ins_p.EK33fs|LIAS_ENST00000340169.2_Frame_Shift_Ins_p.EK33fs|LIAS_ENST00000515061.1_3'UTR	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN	lipoic acid synthetase	33					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	p.K36fs*31(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	CCTTGCCAGATAAAAAAAAGGA	0.391													8	529	---	---	---	---						A	39462464	-	A	39462463	7	5	31	1	0	1	1	0	0	0	0	0	8818	1403	49	0	105	0	LIAS	4	39462463	Frame_Shift_Ins	INS	-	TCGA-IB-A6UF-01A-23D-A33T-08	38516257	39462463	151691813	34	24065											
BMP2K	55589	broad.mit.edu	37	chr4	79792161	79792169	+	In_Frame_Del	DEL	CAGCACCAC	CAGCACCAC	-													agcagcagcagcagcagcagCagcaccaccaccaccaccac					rs2114202	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:79792161_79792169delCAGCACCAC	ENST00000335016.5	+	11	1622_1630	c.1456_1464delCAGCACCAC	c.(1456-1464)del	p.QHH486del	BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	486	Gln/His-rich.		Q -> H (in dbSNP:rs2114202).	Missing (in Ref. 2; CAB70863).		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						gcagcagcagcagcaccaccaccaccacc	0.488													9	167	---	---	---	---						-	79792169	CAGCACCAC	-	79792161	7	5	31	1	0	1	0	1	0	0	0	0	1459	711	25	0	1498	0	BMP2K	4	79792161	In_Frame_Del	DEL	CAGCACCAC	TCGA-IB-A6UF-01A-23D-A33T-08	40329698	79792161	111362115	35	24066											
SLC7A11	23657	broad.mit.edu	37	chr4	139106321	139106321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctcagcattaatggtcGtaaagtaggccacatttgtc	9	10	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:139106321G>A	ENST00000280612.5	-	7	1148	c.869C>T	c.(868-870)aCg>aTg	p.T290M		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	290					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)	ATTAATGGTCGTAAAGTAGGC	0.433													4	330					0	0	1	0	0	A	139106321	G	A	139106321	3	1	31	1	0	0	0	0	1	0	0	0	14749	1145	40	1	660	1	SLC7A11	4	139106321	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	59314160	139106321	52047955	36	24067											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536695.1_Missense_Mutation_p.F106Y|FSTL5_ENST00000427802.2_Missense_Mutation_p.F106Y|FSTL5_ENST00000379164.4_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													40	117					0	0	1	0	0	T	162841645	A	T	162841645	3	4	31	1	0	0	0	0	1	0	0	0	6115	246	9	5	2275	5	FSTL5	4	162841645	Missense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	23735324	162841645	28312631	37	24068											
SORBS2	8470	broad.mit.edu	37	chr4	186544639	186544639	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtggtggtggtggtggtgAtggtggtggtggtggctgga	25	2	0	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:186544639A>G	ENST00000431808.1	-	14	2495	c.1932T>C	c.(1930-1932)caT>caC	p.H644H	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Silent_p.H548H|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Silent_p.H744H|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Silent_p.H644H|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	644	His-rich.					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)		ggtggtggtgatggtggtggt	0.522													5	221					0	0	1	0	0	G	186544639	A	G	186544639	2	3	31	1	0	0	0	0	0	0	0	1	14982	330	12	3		3	SORBS2	4	186544639	Silent	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	23702994	186544639	4609637	38	24069											
TRIO	7204	broad.mit.edu	37	chr5	14508455	14508455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttccttcattgagcggcGcaaacaccagaatgatgttc	9	11	1	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:14508455G>A	ENST00000344204.4	+	57	9242	c.9218G>A	c.(9217-9219)cGc>cAc	p.R3073H	TRIO_ENST00000344135.5_Missense_Mutation_p.R572H|TRIO_ENST00000537187.1_Missense_Mutation_p.R2897H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	3073					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	p.R3073H(1)		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)					ATTGAGCGGCGCAAACACCAG	0.547													6	354					0	0	1	0	0	A	14508455	G	A	14508455	3	1	31	1	0	0	0	0	1	0	0	0	16613	1087	38	1	9444	1	TRIO	5	14508455	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		14508455	166406805	39	24070											
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-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	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													5	293					0	0	1	0	0	A	37725121	G	A	37725121	2	1	31	1	0	0	0	0	0	0	0	1	17381	1074	38	1		1	WDR70	5	37725121	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	23216666	37725121	143190139	40	24071											
FGF10	2255	broad.mit.edu	37	chr5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-													caccaagaacagcaacaaaaAgcagcagcagcagcagccgg							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:44388715_44388717delAGC	ENST00000264664.4	-	1	182_184	c.68_70delGCT	c.(67-72)ttt>t	p.CF23del		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	23					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)					AGCAACAAAAAGCAGCAGCAGCA	0.537													12	231	---	---	---	---						-	44388717	AGC	-	44388715	7	5	31	1	0	1	0	1	0	0	0	0	5872	72	3	0	568	0	FGF10	5	44388715	In_Frame_Del	DEL	AGC	TCGA-IB-A6UF-01A-23D-A33T-08	6663594	44388715	136526545	41	24072											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000458488.2_Silent_p.P218P|SEPT8_ENST00000378699.2_Silent_p.P158P|SEPT8_ENST00000378721.4_Silent_p.P216P|SEPT8_ENST00000378706.1_Silent_p.P218P|SEPT8_ENST00000448933.1_Silent_p.P158P|SEPT8_ENST00000378719.2_Silent_p.P218P|SEPT8_ENST00000378701.1_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													81	169					0	0	1	0	0	A	132098218	G	A	132098218	2	1	31	1	0	0	0	0	0	0	0	1	14124	1335	47	2		2	SEPT8	5	132098218	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	87709503	132098218	48817042	42	24073											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PPP2CA_ENST00000231504.5_5'UTR|CDKL3_ENST00000518409.1_5'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													64	155					0	0	1	0	0	G	133541798	A	G	133541798	3	3	31	1	0	0	0	0	1	0	0	0	12429	333	12	3	826	3	PPP2CA	5	133541798	Missense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	1443580	133541798	47373462	43	24074											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:133901907delC	ENST00000395003.1	+	9	1250	c.1071delC	c.(1069-1071)ttfs	p.F357fs	PHF15_ENST00000402835.1_Frame_Shift_Del_p.F357fs|PHF15_ENST00000282605.4_Frame_Shift_Del_p.F357fs|PHF15_ENST00000361895.2_Frame_Shift_Del_p.F357fs	NM_015288.4	NP_056103.4	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													105	268	---	---	---	---						-	133901907	C	-	133901907	7	5	31	1	0	1	0	1	0	0	0	0	11874	825	29	0	1101	0	PHF15	5	133901907	Frame_Shift_Del	DEL	C	TCGA-IB-A6UF-01A-23D-A33T-08	360109	133901907	47013353	44	24075											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_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													80	211					0	0	1	0	0	T	140730509	C	T	140730509	4	4	31	1	0	0	0	0	0	1	0	0	11609	644	23	1	684	1	PCDHGB1	5	140730509	Nonsense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	6828602	140730509	40184751	45	24076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	154					0	0	1	0	0	T	141335933	A	T	141335933	3	4	31	1	0	0	0	0	1	0	0	0	11557	275	10	5	2086	5	PCDH12	5	141335933	Missense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	605424	141335933	39579327	46	24077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	269					0	0	1	0	0	T	150930181	C	T	150930181	2	4	31	1	0	0	0	0	0	0	0	1	5723	639	23	1		1	FAT2	5	150930181	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	9594248	150930181	29985079	47	24078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													110	279					0	0	1	0	0	T	156593091	C	T	156593091	3	4	31	1	0	0	0	0	1	0	0	0	5643	884	31	1	1736	1	FAM71B	5	156593091	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	5662910	156593091	24322169	48	24079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402874.3_Missense_Mutation_p.K154N|SQSTM1_ENST00000510187.1_Missense_Mutation_p.K238N|SQSTM1_ENST00000376929.3_Missense_Mutation_p.K154N	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													69	186					0	0	1	0	0	C	179252186	G	C	179252186	3	2	31	1	0	0	0	0	1	0	0	0	15186	933	33	5	732	5	SQSTM1	5	179252186	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	22659095	179252186	1663074	49	24080											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	300					0	0	1	0	0	A	31760017	G	A	31760017	3	1	31	1	0	0	0	0	1	0	0	0	17183	1348	47	2	3046	2	VARS	6	31760017	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		31760017	139355050	50	24081											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374993.1_Silent_p.H418H|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000414363.1_Silent_p.H208H|BTNL2_ENST00000540315.1_Silent_p.H208H|BTNL2_ENST00000544175.1_Silent_p.H141H|BTNL2_ENST00000374995.3_Silent_p.H324H			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													6	409					0	0	1	0	0	A	32362627	G	A	32362627	2	1	31	1	0	0	0	0	0	0	0	1	1568	1136	40	1		1	BTNL2	6	32362627	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	602610	32362627	138752440	51	24082											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	226					0	0	1	0	0	T	98997952	C	T	98997952	2	4	31	1	0	0	0	0	0	0	0	1	11660	726	26	2		2	PDAP1	7	98997952	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		98997952	60140711	52	24083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr7:100383688G>A	ENST00000542585.1	+	0	7049				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_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													121	260					0	0	1	0	0	A	100383688	G	A	100383688	1	1	31	0	1	0	0	0	0	0	0	0	17573	1116	39	1		1	ZAN	7	100383688	RNA	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1385736	100383688	58754975	53	24084											
FOXP2	93986	broad.mit.edu	37	chr7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-													aacagcagcagcagcagcaaCagcagcagcagcagcaacag							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr7:114270016_114270018delCAG	ENST00000393500.3	+	11	1148_1150	c.328_330delCAG	c.(328-330)del	p.Q116del	FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del			O15409	FOXP2_HUMAN	forkhead box P2	191	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	p.Q210Q(2)		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						gcagcagcaacagcagcagcagc	0.507													8	204	---	---	---	---						-	114270018	CAG	-	114270016	7	5	31	1	0	1	0	1	0	0	0	0	6061	479	17	0	701	0	FOXP2	7	114270016	In_Frame_Del	DEL	CAG	TCGA-IB-A6UF-01A-23D-A33T-08	13886328	114270016	44868647	54	24085											
CFTR	1080	broad.mit.edu	37	chr7	117175426	117175426	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgatagtccttgcccTttttcaggctgggctaggga	11	10	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr7:117175426T>C	ENST00000003084.6	+	6	836	c.704T>C	c.(703-705)cTt>cCt	p.L235P	CFTR_ENST00000454343.1_Missense_Mutation_p.L235P	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	235	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)	GTCCTTGCCCTTTTTCAGGCT	0.438									Cystic Fibrosis				4	356					0	0	1	0	0	C	117175426	T	C	117175426	3	2	31	1	0	0	0	0	1	0	0	0	3316	1609	56	3	726	3	CFTR	7	117175426	Missense_Mutation	SNP	T	TCGA-IB-A6UF-01A-23D-A33T-08	2905410	117175426	41963237	55	24086											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr7:137269964G>A	ENST00000453654.1	-	14	1193	c.654C>T	c.(652-654)ggC>ggT	p.G218G	DGKI_ENST00000288490.5_Silent_p.G518G|DGKI_ENST00000446122.1_Silent_p.G518G|DGKI_ENST00000424189.2_Silent_p.G518G			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	518					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													95	287					0	0	1	0	0	A	137269964	G	A	137269964	2	1	31	1	0	0	0	0	0	0	0	1	4499	1074	38	1		1	DGKI	7	137269964	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	20094538	137269964	21868699	56	24087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	262					0	0	1	0	0	C	51664572	G	C	51664572	3	2	31	1	0	0	0	0	1	0	0	0	14928	1183	41	5	1358	5	SNTG1	8	51664572	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		51664572	94699450	57	24088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	130					0	0	1	0	0	G	54163405	C	G	54163405	3	3	31	1	0	0	0	0	1	0	0	0	10933	507	18	5	961	5	OPRK1	8	54163405	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	2498833	54163405	92200617	58	24089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													64	274					0	0	1	0	0	A	57025772	G	A	57025772	3	1	31	1	0	0	0	0	1	0	0	0	9761	1145	40	1	273	1	MOS	8	57025772	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	2862367	57025772	89338250	59	24090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	191					0	0	1	0	0	A	95142932	G	A	95142932	3	1	31	1	0	0	0	0	1	0	0	0	3124	1115	39	1	186	1	CDH17	8	95142932	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	38117160	95142932	51221090	60	24091											
ZHX1	11244	broad.mit.edu	37	chr8	124266775	124266775	+	Frame_Shift_Del	DEL	T	T	-													ctgccagttgctcttttgtcTtttttgcccgaatgccaaat							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:124266775delT	ENST00000395571.3	-	3	2029	c.1412delA	c.(1411-1413)agfs	p.K471fs	ZHX1_ENST00000297857.2_Frame_Shift_Del_p.K471fs|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Frame_Shift_Del_p.K471fs	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	471	Required for interaction with NFYA.				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)			CTCTTTTGTCTTTTTTGCCCG	0.393													8	915	---	---	---	---						-	124266775	T	-	124266775	7	5	31	1	0	1	0	1	0	0	0	0	17733	1609	56	0	1213	0	ZHX1	8	124266775	Frame_Shift_Del	DEL	T	TCGA-IB-A6UF-01A-23D-A33T-08	29123843	124266775	22097247	61	24092											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	255					0	0	1	0	0	T	37708409	C	T	37708409	2	4	31	1	0	0	0	0	0	0	0	1	6092	535	19	1		1	FRMPD1	9	37708409	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		37708409	103505022	62	24093											
TEX10	54881	broad.mit.edu	37	chr9	103066048	103066048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcccaactctgttcacccGcaggctctgcagcatcaacc	8	17	4	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr9:103066048G>A	ENST00000374902.4	-	14	2718	c.2542C>T	c.(2542-2544)Cgg>Tgg	p.R848W	TEX10_ENST00000477648.1_5'UTR|TEX10_ENST00000535814.1_Missense_Mutation_p.R832W	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	848						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)		CTGTTCACCCGCAGGCTCTGC	0.562													5	322					0	0	1	0	0	A	103066048	G	A	103066048	3	1	31	1	0	0	0	0	1	0	0	0	15831	1086	38	1	255	1	TEX10	9	103066048	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	65357639	103066048	38147383	63	24094											
FKBP15	23307	broad.mit.edu	37	chr9	115969556	115969556	+	Frame_Shift_Del	DEL	T	T	-													gctcatggtggctggtgctgTttttggtgttgcctgatttc							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr9:115969556delT	ENST00000238256.3	-	3	307	c.190delA	c.(190-192)cafs	p.T64fs	FKBP15_ENST00000493847.1_5'UTR	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	64					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						GCTGGTGCTGTTTTTGGTGTT	0.418													7	914	---	---	---	---						-	115969556	T	-	115969556	7	5	31	1	0	1	0	1	0	0	0	0	5938	1725	60	0	3573	0	FKBP15	9	115969556	Frame_Shift_Del	DEL	T	TCGA-IB-A6UF-01A-23D-A33T-08	12903508	115969556	25243875	64	24095											
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-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	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													5	436					0	0	1	0	0	T	125486583	C	T	125486583	2	4	31	1	0	0	0	0	0	0	0	1	11013	825	29	2		2	OR1L4	9	125486583	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	9517027	125486583	15726848	65	24096											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000314904.5_Silent_p.S741S|GARNL3_ENST00000496711.1_3'UTR|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													13	178					0	0	1	0	0	G	130145778	T	G	130145778	2	3	31	1	0	0	0	0	0	0	0	1	6281	1567	55	3		3	GARNL3	9	130145778	Silent	SNP	T	TCGA-IB-A6UF-01A-23D-A33T-08	4659195	130145778	11067653	66	24097											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Silent_p.P624P|EHMT1_ENST00000462484.1_Silent_p.P655P	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													54	155					0	0	1	0	0	T	140671243	C	T	140671243	2	4	31	1	0	0	0	0	0	0	0	1	5009	639	23	1		1	EHMT1	9	140671243	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	10525465	140671243	542188	67	24098											
CAMK1D	57118	broad.mit.edu	37	chr10	12811799	12811799	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaactccaggctatgtcgGtaaggacagtgcatgtgcac	13	9	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:12811799G>A	ENST00000378847.3	+	5	902		c.e5+1		CAMK1D_ENST00000378845.1_Splice_Site	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID							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)		GGCTATGTCGGTAAGGACAGT	0.478													4	296					0	0	1	0	0	A	12811799	G	A	12811799	5	1	31	1	0	0	0	0	0	0	1	0	2615	1275	44	2	584	2	CAMK1D	10	12811799	Splice_Site	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		12811799	122722948	68	24099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	337					0	0	1	0	0	A	26589858	G	A	26589858	3	1	31	1	0	0	0	0	1	0	0	0	6215	1291	45	2	1788	2	GAD2	10	26589858	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	13778059	26589858	108944889	69	24100											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	175					0	0	1	0	0	A	27702453	G	A	27702453	3	1	31	1	0	0	0	0	1	0	0	0	12783	1086	38	1	1592	1	PTCHD3	10	27702453	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1112595	27702453	107832294	70	24101											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	116					0	0	1	0	0	T	48388884	C	T	48388884	3	4	31	1	0	0	0	0	1	0	0	0	13209	652	23	1	1765	1	RBP3	10	48388884	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	20686431	48388884	87145863	71	24102											
AGAP11	119385	broad.mit.edu	37	chr10	88767879	88767880	+	RNA	INS	-	-	T													ttttttttcttttttctttcINStttttttttttttttagtaa					rs71019447		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:88767879_88767880insT	ENST00000444431.1	+	0	2711				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										ttttttctttcttttttttttt	0.455													5	8	---	---	---	---						T	88767880	-	T	88767879	6	5	31	0	1	1	1	0	0	0	0	0	366	928	32	0		0	AGAP11	10	88767879	RNA	INS	-	TCGA-IB-A6UF-01A-23D-A33T-08	40378995	88767879	46766868	72	24103											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.G1219G	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													64	139					0	0	1	0	0	C	98764503	G	C	98764503	2	2	31	1	0	0	0	0	0	0	0	1	14793	1190	42	5		5	SLIT1	10	98764503	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	9996624	98764503	36770244	73	24104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													164	554					7.28047e-80	7.76583e-80	1	1	0	T	104117903	G	T	104117903	2	4	31	1	0	0	0	0	0	0	0	1	6311	1306	46	2		2	GBF1	10	104117903	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	5353400	104117903	31416844	74	24105											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	202					0	0	1	0	0	A	108412204	G	A	108412204	3	1	31	1	0	0	0	0	1	0	0	0	14984	1145	40	1	1365	1	SORCS1	10	108412204	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	4294301	108412204	27122543	75	24106											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537978.1_Missense_Mutation_p.F41L|ANO3_ENST00000525139.1_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													160	393					4.76223e-79	5.04912e-79	1	1	0	A	26463589	C	A	26463589	3	1	31	1	0	0	0	0	1	0	0	0	692	854	30	2	177	2	ANO3	11	26463589	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		26463589	108542927	76	24107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395074.2_Missense_Mutation_p.A215T|LPXN_ENST00000528489.1_Missense_Mutation_p.A195T	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													104	257					0	0	1	0	0	T	58317463	C	T	58317463	3	4	31	1	0	0	0	0	1	0	0	0	8974	768	27	1	533	1	LPXN	11	58317463	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	31853874	58317463	76689053	77	24108											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:64031069delG	ENST00000540288.1	+	20	2558	c.2455_splice	c.e20+1	p.G819_splice	PLCB3_ENST00000325234.5_Splice_Site_p.G752_splice|PLCB3_ENST00000279230.6_Splice_Site_p.G819_splice	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													45	131	---	---	---	---						-	64031069	G	-	64031069	8	5	31	1	0	1	0	1	0	0	1	0	12077	1130	39	0	2533	0	PLCB3	11	64031069	Splice_Site	DEL	G	TCGA-IB-A6UF-01A-23D-A33T-08	5713606	64031069	70975447	78	24109											
CDC42BPG	55561	broad.mit.edu	37	chr11	64594614	64594614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgagatgagcttggagcGcacaaaagggtccttcagca	14	10	1	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:64594614G>A	ENST00000342711.5	-	34	4296	c.4297C>T	c.(4297-4299)Cgc>Tgc	p.R1433C		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1433					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						AGCTTGGAGCGCACAAAAGGG	0.652													5	536					0	0	1	0	0	A	64594614	G	A	64594614	3	1	31	1	0	0	0	0	1	0	0	0	3096	1087	38	1	374	1	CDC42BPG	11	64594614	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	563545	64594614	70411902	79	24110											
RBM14	10432	broad.mit.edu	37	chr11	66392698	66392698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagccagcagcctacgccGcacaagccactaccccaatg	8	19	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:66392698G>A	ENST00000310137.4	+	2	1490	c.1351G>A	c.(1351-1353)Gca>Aca	p.A451T	RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000393979.3_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000409738.4_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	451	Ala-rich.				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						AGCCTACGCCGCACAAGCCAC	0.617													8	815					0	0	1	0	0	A	66392698	G	A	66392698	3	1	31	1	0	0	0	0	1	0	0	0	13167	1087	38	1	1357	1	RBM14	11	66392698	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1798084	66392698	68613818	80	24111											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:68675791delC	ENST00000255078.3	+	3	546	c.435delC	c.(433-435)tafs	p.Y145fs	IGHMBP2_ENST00000539224.1_Frame_Shift_Del_p.Y145fs	NM_002180.2	NP_002171.2	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													35	210	---	---	---	---						-	68675791	C	-	68675791	7	5	31	1	0	1	0	1	0	0	0	0	7635	489	17	0	445	0	IGHMBP2	11	68675791	Frame_Shift_Del	DEL	C	TCGA-IB-A6UF-01A-23D-A33T-08	2283093	68675791	66330725	81	24112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	12					0	0	1	0	0	T	107526732	A	T	107526732	3	4	31	1	0	0	0	0	1	0	0	0	5096	43	2	5	810	5	ELMOD1	11	107526732	Missense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	38850941	107526732	27479784	82	24113											
ERC1	23085	broad.mit.edu	37	chr12	1292488	1292488	+	Frame_Shift_Del	DEL	A	A	-													gagcatgcttcttctctggcAtcctcaggactgaaaaagga							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:1292488delA	ENST00000397203.2	+	11	2464	c.2058delA	c.(2056-2058)gcfs	p.A686fs	ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Frame_Shift_Del_p.A686fs|ERC1_ENST00000546231.2_Frame_Shift_Del_p.A686fs|ERC1_ENST00000355446.5_Frame_Shift_Del_p.A686fs|ERC1_ENST00000543086.3_Frame_Shift_Del_p.A658fs|ERC1_ENST00000589028.1_Frame_Shift_Del_p.A686fs			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	686					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)			CTTCTCTGGCATCCTCAGGAC	0.368													154	220	---	---	---	---						-	1292488	A	-	1292488	7	5	31	1	0	1	0	1	0	0	0	0	5238	204	8	0	2096	0	ERC1	12	1292488	Frame_Shift_Del	DEL	A	TCGA-IB-A6UF-01A-23D-A33T-08		1292488	132559407	83	24114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													57	76					0	0	1	0	0	T	7187985	C	T	7187985	3	4	31	1	0	0	0	0	1	0	0	0	1985	536	19	1	152	1	C1R	12	7187985	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	5895497	7187985	126663910	84	24115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)			42	75					0	0	1	0	0	G	25398285	C	G	25398285	3	3	31	1	0	0	0	0	1	0	0	0	8481	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	18210300	25398285	108453610	85	24116											
KIF21A	55605	broad.mit.edu	37	chr12	39735383	39735383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctcctcctcctcctcCtcttcttcatcctcatgatc	1	20	5	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:39735383C>T	ENST00000395670.3	-	14	2264	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000361418.5_Silent_p.E615E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	615					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E602D(1)|p.E602E(1)		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)				cctcctcctcctcttcttcat	0.398													4	140					0	0	1	0	0	T	39735383	C	T	39735383	2	4	31	1	0	0	0	0	0	0	0	1	8330	680	24	2		2	KIF21A	12	39735383	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	14337098	39735383	94116512	86	24117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:52183167G>T	ENST00000354534.5	+	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	1462					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													80	176					3.30373e-36	3.46105e-36	1	1	0	T	52183167	G	T	52183167	3	4	31	1	0	0	0	0	1	0	0	0	13978	1377	48	2	4474	2	SCN8A	12	52183167	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	12447784	52183167	81668728	87	24118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	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													33	91					0	0	1	0	0	G	54448134	A	G	54448134	3	3	31	1	0	0	0	0	1	0	0	0	7354	159	6	3	430	3	HOXC4	12	54448134	Missense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	2264967	54448134	79403761	88	24119											
ITGA7	3679	broad.mit.edu	37	chr12	56082736	56082736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttggccgtgccccgggcGcagtcctagggataaggaca	15	12	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:56082736G>A	ENST00000257880.7	-	23	3201	c.2982C>T	c.(2980-2982)tgC>tgT	p.C994C	ITGA7_ENST00000347027.6_Silent_p.C944C|ITGA7_ENST00000555728.1_Silent_p.C994C|ITGA7_ENST00000257879.6_Silent_p.C950C|ITGA7_ENST00000553804.1_Silent_p.C954C|ITGA7_ENST00000452168.2_Silent_p.C857C|ITGA7_ENST00000394229.2_Silent_p.C950C|ITGA7_ENST00000394230.2_Silent_p.C954C			Q13683	ITA7_HUMAN	integrin, alpha 7	994					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						TGCCCCGGGCGCAGTCCTAGG	0.592													4	151					0	0	1	0	0	A	56082736	G	A	56082736	2	1	31	1	0	0	0	0	0	0	0	1	7925	1079	38	1		1	ITGA7	12	56082736	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1634602	56082736	77769159	89	24120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000549325.1_Missense_Mutation_p.T137M|PPFIA2_ENST00000407050.4_Missense_Mutation_p.T81M|PPFIA2_ENST00000443686.3_Missense_Mutation_p.T81M|PPFIA2_ENST00000333447.7_Missense_Mutation_p.T137M|PPFIA2_ENST00000549396.1_Missense_Mutation_p.T155M|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550359.2_Missense_Mutation_p.T2M|PPFIA2_ENST00000548586.1_Missense_Mutation_p.T155M|PPFIA2_ENST00000552948.1_Missense_Mutation_p.T155M	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													34	85					0	0	1	0	0	A	81839441	G	A	81839441	3	1	31	1	0	0	0	0	1	0	0	0	12355	1145	40	1	3417	1	PPFIA2	12	81839441	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	25756705	81839441	52012454	90	24121											
TMTC2	160335	broad.mit.edu	37	chr12	83289748	83289748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggacagcctcctcacccGcactctcaccttcttctact	4	19	4	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:83289748G>A	ENST00000549919.1	+	4	2593	c.788G>A	c.(787-789)cGc>cAc	p.R263H	TMTC2_ENST00000321196.3_Missense_Mutation_p.R269H|TMTC2_ENST00000548305.1_Missense_Mutation_p.R269H			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	269						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						CTCCTCACCCGCACTCTCACC	0.527													6	460					0	0	1	0	0	A	83289748	G	A	83289748	3	1	31	1	0	0	0	0	1	0	0	0	16321	1087	38	1	816	1	TMTC2	12	83289748	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1450307	83289748	50562147	91	24122											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													186	404					0	0	1	0	0	A	19751421	G	A	19751421	2	1	31	1	0	0	0	0	0	0	0	1	16808	1048	37	1		1	TUBA3C	13	19751421	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		19751421	95418457	92	24123											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	164					0	0	1	0	0	A	30002979	G	A	30002979	1	1	31	1	0	0	0	0	0	0	0	0	10014	1189	41	2		2	MTUS2	13	30002979	Translation_Start_Site	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	10251558	30002979	85166899	93	24124											
PARP2	10038	broad.mit.edu	37	chr14	20822982	20822982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagggaagctgacagtgGcacaaatcaaggcaggttac	13	9	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr14:20822982G>A	ENST00000527915.1	+	9	822	c.817G>A	c.(817-819)Gca>Aca	p.A273T	PARP2_ENST00000250416.5_Missense_Mutation_p.A273T|PARP2_ENST00000429687.3_Missense_Mutation_p.A260T			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	273	PARP alpha-helical.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	p.A273T(1)|p.A224T(1)		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)		GCTGACAGTGGCACAAATCAA	0.468								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					5	449					0	0	1	0	0	A	20822982	G	A	20822982	3	1	31	1	0	0	0	0	1	0	0	0	11508	1203	42	2	851	2	PARP2	14	20822982	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		20822982	86526558	94	24125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000551492.1_Silent_p.S719S|NPAS3_ENST00000548645.1_Silent_p.S684S|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													5	43					0	0	1	0	0	A	34269655	G	A	34269655	2	1	31	1	0	0	0	0	0	0	0	1	10611	1103	39	1		1	NPAS3	14	34269655	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	13446673	34269655	73079885	95	24126											
ZBTB25	7597	broad.mit.edu	37	chr14	64954065	64954065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgaaggagctgagcctgCggcattcaagggcctcgctg	14	11	1	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr14:64954065C>T	ENST00000394715.1	-	6	1585	c.884G>A	c.(883-885)cGc>cAc	p.R295H	ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000261683.2_Missense_Mutation_p.R295H|ZBTB25_ENST00000555424.1_Intron			P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	295						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		GCTGAGCCTGCGGCATTCAAG	0.507													6	577					0	0	1	0	0	T	64954065	C	T	64954065	3	4	31	1	0	0	0	0	1	0	0	0	17591	768	27	1	427	1	ZBTB25	14	64954065	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	30684410	64954065	42395475	96	24127											
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-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	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													7	1250					0	0	1	0	0	A	105416378	G	A	105416378	3	1	31	1	0	0	0	0	1	0	0	0	412	1086	38	1	11981	1	AHNAK2	14	105416378	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	40462313	105416378	1933162	97	24128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000353809.5_Missense_Mutation_p.A540T|OCA2_ENST00000382996.2_Missense_Mutation_p.A564T	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				4	176					0	0	1	0	0	T	28202828	C	T	28202828	3	4	31	1	0	0	0	0	1	0	0	0	10863	739	26	2	862	2	OCA2	15	28202828	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		28202828	74328564	98	24129											
DISP2	85455	broad.mit.edu	37	chr15	40659678	40659678	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggacatctacctggaccgGctggccaccccctgggggct	13	15	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr15:40659678G>A	ENST00000267889.3	+	8	1452	c.1365G>A	c.(1363-1365)cgG>cgA	p.R455R		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	455					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)		ACCTGGACCGGCTGGCCACCC	0.617													6	925					0	0	1	0	0	A	40659678	G	A	40659678	2	1	31	1	0	0	0	0	0	0	0	1	4568	1190	42	2		2	DISP2	15	40659678	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	12456850	40659678	61871714	99	24130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	61					0	0	1	0	0	A	65681260	G	A	65681260	3	1	31	1	0	0	0	0	1	0	0	0	7613	1057	37	1	1183	1	IGDCC4	15	65681260	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	25021582	65681260	36850132	100	24131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000319212.4_Missense_Mutation_p.R287H|DIS3L_ENST00000441424.2_Missense_Mutation_p.R153H|RP11-352G18.2_ENST00000565993.1_RNA	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													5	233					0	0	1	0	0	A	66607419	G	A	66607419	3	1	31	1	0	0	0	0	1	0	0	0	4564	1087	38	1	886	1	DIS3L	15	66607419	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	926159	66607419	35923973	101	24132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	199					0	0	1	0	0	T	683104	C	T	683104	3	4	31	1	0	0	0	0	1	0	0	0	17418	768	27	1	700	1	WFIKKN1	16	683104	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		683104	89671649	102	24133											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	407					0	0	1	0	0	T	1812981	C	T	1812981	2	4	31	1	0	0	0	0	0	0	0	1	9336	738	26	2		2	MAPK8IP3	16	1812981	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	1129877	1812981	88541772	103	24134											
CASKIN1	57524	broad.mit.edu	37	chr16	2229984	2229984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggttctgcttggcccGgatgcgcctcttgagtgtgg	15	11	2	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:2229984G>A	ENST00000343516.6	-	18	3477	c.3385C>T	c.(3385-3387)Cgg>Tgg	p.R1129W		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1129	Pro-rich.				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						TGCTTGGCCCGGATGCGCCTC	0.682													3	63					0	0	1	0	0	A	2229984	G	A	2229984	3	1	31	1	0	0	0	0	1	0	0	0	2684	1115	39	1	922	1	CASKIN1	16	2229984	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	417003	2229984	88124769	104	24135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000339854.4_Silent_p.P453P	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													226	555					0	0	1	0	0	T	3293588	C	T	3293588	2	4	31	1	0	0	0	0	0	0	0	1	9509	755	27	1		1	MEFV	16	3293588	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	1063604	3293588	87061165	105	24136											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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													4	233					0	0	1	0	0	T	18896965	A	T	18896965	2	4	31	1	0	0	0	0	0	0	0	1	14849	407	15	5		5	SMG1	16	18896965	Silent	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	15603377	18896965	71457788	106	24137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	163					0	0	1	0	0	A	27659970	G	A	27659970	3	1	31	1	0	0	0	0	1	0	0	0	8225	1059	37	1	476	1	KIAA0556	16	27659970	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	8763005	27659970	62694783	107	24138											
IRX3	79191	broad.mit.edu	37	chr16	54318808	54318809	+	Frame_Shift_Ins	INS	-	-	G													gcgcaggggtccaggctcacINSggggggcgacggcagagacg							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:54318808_54318809insG	ENST00000329734.3	-	2	1696_1697	c.984_985insC	c.(982-987)cctgagfs	p.E329fs		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	329	Pro-rich.				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						TCCAGGCTCACGGGGGGCGACG	0.703													10	36	---	---	---	---						G	54318809	-	G	54318808	7	5	31	1	0	1	1	0	0	0	0	0	7889	536	19	0	532	0	IRX3	16	54318808	Frame_Shift_Ins	INS	-	TCGA-IB-A6UF-01A-23D-A33T-08	26658838	54318808	36035945	108	24139											
SLC7A6	9057	broad.mit.edu	37	chr16	68330539	68330539	+	Frame_Shift_Del	DEL	T	T	-													ctctatttcagctgagcgtgTttttccccatcgtgttctgc							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:68330539delT	ENST00000566454.1	+	11	1548	c.1279delT	c.(1279-1281)ttfs	p.F428fs	SLC7A6_ENST00000219343.6_Frame_Shift_Del_p.F428fs	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	428					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|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		GCTGAGCGTGTTTTTCCCCAT	0.522													9	797	---	---	---	---						-	68330539	T	-	68330539	7	5	31	1	0	1	0	1	0	0	0	0	14756	1725	60	0	1309	0	SLC7A6	16	68330539	Frame_Shift_Del	DEL	T	TCGA-IB-A6UF-01A-23D-A33T-08	14011731	68330539	22024214	109	24140											
MLYCD	23417	broad.mit.edu	37	chr16	83948907	83948907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacggggcggtgctgtggcGcatcaactggatggcggatg	19	8	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:83948907G>A	ENST00000262430.4	+	5	1314	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	RP11-505K9.4_ENST00000561562.1_RNA	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	432					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						GTGCTGTGGCGCATCAACTGG	0.642													6	423					0	0	1	0	0	A	83948907	G	A	83948907	3	1	31	1	0	0	0	0	1	0	0	0	9686	1087	38	1	1313	1	MLYCD	16	83948907	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	15618368	83948907	6405846	110	24141											
COTL1	23406	broad.mit.edu	37	chr16	84600451	84600451	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtggcgggggctggggTtactccgtctgggcgtcgta	20	8	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:84600451T>G	ENST00000262428.4	-	4	591	c.429A>C	c.(427-429)taA>taC	p.*143Y	COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y|COTL1_ENST00000567278.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	0						cytoplasm|cytoskeleton	actin binding|enzyme binding			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GGGGCTGGGGTTACTCCGTCT	0.622													11	101					0	0	1	0	0	G	84600451	T	G	84600451	4	3	31	1	0	0	0	0	0	0	0	0	3784	1732	60	3	3	3	COTL1	16	84600451	Nonstop_Mutation	SNP	T	TCGA-IB-A6UF-01A-23D-A33T-08	651544	84600451	5754302	111	24142											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000348987.3_Missense_Mutation_p.G665D|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	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													4	138					0	0	1	0	0	T	1538293	C	T	1538293	3	4	31	1	0	0	0	0	1	0	0	0	13936	739	26	2	244	2	SCARF1	17	1538293	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		1538293	79656917	112	24143											
SLC25A11	8402	broad.mit.edu	37	chr17	4841809	4841809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcccctccactcacccGccacagtgtgaggacaccct	7	20	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr17:4841809G>A	ENST00000225665.7	-	4	884	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	SLC25A11_ENST00000544061.2_Missense_Mutation_p.R131W	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	182					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						CCACTCACCCGCCACAGTGTG	0.602													5	417					0	0	1	0	0	A	4841809	G	A	4841809	3	1	31	1	0	0	0	0	1	0	0	0	14528	1086	38	1	420	1	SLC25A11	17	4841809	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	3303516	4841809	76353401	113	24144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_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)			35	48					0	0	1	0	0	T	7577120	C	T	7577120	3	4	31	1	0	0	0	0	1	0	0	0	16442	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	2735311	7577120	73618090	114	24145											
FLII	2314	broad.mit.edu	37	chr17	18155424	18155424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtctgcgggcttgggcgGcatgaccaggttggggttct	18	9	2	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr17:18155424G>A	ENST00000327031.4	-	11	1360	c.1135C>T	c.(1135-1137)Ccg>Tcg	p.P379S	FLII_ENST00000578558.1_Missense_Mutation_p.P379S|FLII_ENST00000579294.1_Missense_Mutation_p.P368S|FLII_ENST00000379450.4_Missense_Mutation_p.P294S|FLII_ENST00000545457.2_Missense_Mutation_p.P325S	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	379	Interaction with LRRFIP1 and LRRFIP2.				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)					GGCTTGGGCGGCATGACCAGG	0.647													4	175					0	0	1	0	0	A	18155424	G	A	18155424	3	1	31	1	0	0	0	0	1	0	0	0	5958	1203	42	2	2754	2	FLII	17	18155424	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	10578304	18155424	63039786	115	24146											
PPP1R9B	84687	broad.mit.edu	37	chr17	48220981	48220981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgccatcccgatgggccGcaccaccctccgtcacggtc	9	20	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr17:48220981G>A	ENST00000316878.6	-	5	1603	c.1601C>T	c.(1600-1602)gCg>gTg	p.A534V	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	534	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						CCGATGGGCCGCACCACCCTC	0.657													6	185					0	0	1	0	0	A	48220981	G	A	48220981	3	1	31	1	0	0	0	0	1	0	0	0	12428	1087	38	1	878	1	PPP1R9B	17	48220981	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	30065557	48220981	32974229	116	24147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.A306V	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													96	120					0	0	1	0	0	A	80788076	G	A	80788076	3	1	31	1	0	0	0	0	1	0	0	0	18182	1087	38	1	61	1	ZNF750	17	80788076	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	32567095	80788076	407134	117	24148											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													36	41					0	0	1	0	0	A	33952645	G	A	33952645	3	1	31	1	0	0	0	0	1	0	0	0	5916	1116	39	1	285	1	FHOD3	18	33952645	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		33952645	44124603	118	24149											
ZNF93	81931	broad.mit.edu	37	chr19	20044613	20044613	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaattcatactggagagaaAccctacaaatgtgaagaatg	8	6	1	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:20044613A>G	ENST00000343769.5	+	4	877	c.849A>G	c.(847-849)aaA>aaG	p.K283K	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	283						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						CTGGAGAGAAACCCTACAAAT	0.368													3	106					0	0	1	0	0	G	20044613	A	G	20044613	2	3	31	1	0	0	0	0	0	0	0	1	18244	40	2	3		3	ZNF93	19	20044613	Silent	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08		20044613	39084370	119	24150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	168					0	0	1	0	0	A	31768582	G	A	31768582	3	1	31	1	0	0	0	0	1	0	0	0	16686	1145	40	1	1132	1	TSHZ3	19	31768582	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	11723969	31768582	27360401	120	24151											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:45316707C>A	ENST00000391955.1	+	6	658	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)	205	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													77	214					3.82405e-32	3.98244e-32	1	1	0	A	45316707	C	A	45316707	3	1	31	1	0	0	0	0	1	0	0	0	1342	507	18	2	636	2	BCAM	19	45316707	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	13548125	45316707	13812276	121	24152											
CD3EAP	10849	broad.mit.edu	37	chr19	45912107	45912107	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaaagagaaagaggcaaaAggggacggaagggatggagc	17	4	0	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:45912107A>G	ENST00000309424.3	+	3	1369	c.881A>G	c.(880-882)aAg>aGg	p.K294R	ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_Missense_Mutation_p.K296R|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	294					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		AAGAGGCAAAAGGGGACGGAA	0.557													4	394					0	0	1	0	0	G	45912107	A	G	45912107	3	3	31	1	0	0	0	0	1	0	0	0	3034	72	3	3	891	3	CD3EAP	19	45912107	Missense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	595400	45912107	13216876	122	24153											
NANOS2	339345	broad.mit.edu	37	chr19	46417639	46417639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgtatgggcctggtcacCggtggccccgcacacgggac	16	14	1	0	rs138351361		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:46417639C>T	ENST00000341294.2	-	1	397	c.313G>A	c.(313-315)Ggt>Agt	p.G105S		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	105					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)		GCCTGGTCACCGGTGGCCCCG	0.667													4	212					0	0	1	0	0	T	46417639	C	T	46417639	3	4	31	1	0	0	0	0	1	0	0	0	10200	652	23	1	107	1	NANOS2	19	46417639	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	505532	46417639	12711344	123	24154											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000353224.5_Silent_p.L344L|PAK7_ENST00000378423.1_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													119	209					0	0	1	0	0	G	9546990	C	G	9546990	2	3	31	1	0	0	0	0	0	0	0	1	11452	465	17	5		5	PAK7	20	9546990	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		9546990	53478530	124	24155											
CD93	22918	broad.mit.edu	37	chr20	23065523	23065523	+	Frame_Shift_Del	DEL	C	C	-													acaagctgtcgcagagggggCcccccgggcccacacactca							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr20:23065523delC	ENST00000246006.4	-	1	1454	c.1307delG	c.(1306-1308)gcfs	p.G436fs		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	436	EGF-like 5; calcium-binding (Potential).				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)					GCAGAGGGGGCCCCCCGGGCC	0.637													7	1197	---	---	---	---						-	23065523	C	-	23065523	7	5	31	1	0	1	0	1	0	0	0	0	3069	739	26	0	659	0	CD93	20	23065523	Frame_Shift_Del	DEL	C	TCGA-IB-A6UF-01A-23D-A33T-08	13518533	23065523	39959997	125	24156											
PPP1R16B	26051	broad.mit.edu	37	chr20	37546918	37546918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagtgcctaccagtatgCgctggccaacggggatgtct	14	11	2	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr20:37546918C>T	ENST00000299824.1	+	11	1502	c.1313C>T	c.(1312-1314)gCg>gTg	p.A438V	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A396V	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	438					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	p.A438V(2)		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)				TACCAGTATGCGCTGGCCAAC	0.622													8	1045					0	0	1	0	0	T	37546918	C	T	37546918	3	4	31	1	0	0	0	0	1	0	0	0	12415	768	27	1	1351	1	PPP1R16B	20	37546918	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	14481395	37546918	25478602	126	24157											
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcagcagcagcagcagcaGcaacagcagcagcagcagca	12	13	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr20:46279833G>A	ENST00000372004.3	+	20	3963	c.3747G>A	c.(3745-3747)caG>caA	p.Q1249Q	NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q	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						agcagcagcagcaacagcagc	0.547													5	351					0	0	1	0	0	A	46279833	G	A	46279833	2	1	31	1	0	0	0	0	0	0	0	1	10277	962	34	2		2	NCOA3	20	46279833	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	8732915	46279833	16745687	127	24158											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Silent_p.S269S|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Silent_p.S217S	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													64	171					0	0	1	0	0	A	50769918	G	A	50769918	2	1	31	1	0	0	0	0	0	0	0	1	17710	962	34	2		2	ZFP64	20	50769918	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	4490085	50769918	12255602	128	24159											
ADAMTS1	9510	broad.mit.edu	37	chr21	28210357	28210357	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaagggctctttgagaggGctaaagctgcgaattctttc	12	8	3	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr21:28210357G>A	ENST00000284984.2	-	9	2899	c.2445C>T	c.(2443-2445)agC>agT	p.S815S		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	815	Spacer.				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)		CTTTGAGAGGGCTAAAGCTGC	0.448													4	165					0	0	1	0	0	A	28210357	G	A	28210357	2	1	31	1	0	0	0	0	0	0	0	1	254	1194	42	2		2	ADAMTS1	21	28210357	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		28210357	19919538	129	24160											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													121	177					7.11685e-60	7.50039e-60	1	1	0	A	32513695	C	A	32513695	3	1	31	1	0	0	0	0	1	0	0	0	15950	622	22	2	1204	2	TIAM1	21	32513695	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	4303338	32513695	15616200	130	24161											
CCDC116	164592	broad.mit.edu	37	chr22	21991016	21991016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccggagctgcctgctgcGtaaactggaggagtccaaaa	12	12	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr22:21991016G>A	ENST00000292779.3	+	5	1660	c.1499G>A	c.(1498-1500)cGt>cAt	p.R500H		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	500										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					TGCCTGCTGCGTAAACTGGAG	0.632													4	243					0	0	1	0	0	A	21991016	G	A	21991016	3	1	31	1	0	0	0	0	1	0	0	0	2771	1145	40	1	1513	1	CCDC116	22	21991016	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		21991016	29313550	131	24162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Silent_p.L480L|PIWIL3_ENST00000527701.1_Silent_p.L480L	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													136	189					0	0	1	0	0	A	25124284	G	A	25124284	2	1	31	1	0	0	0	0	0	0	0	1	12007	991	35	2		2	PIWIL3	22	25124284	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	3133268	25124284	26180282	132	24163											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chrX:73960072G>A	ENST00000373468.1	-	3	4971	c.4320C>T	c.(4318-4320)aaC>aaT	p.N1440N	KIAA2022_ENST00000055682.5_Silent_p.N1440N			Q5QGS0	K2022_HUMAN	KIAA2022	1440					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													122	88					0	0	1	0	0	A	73960072	G	A	73960072	2	1	31	1	0	0	0	0	0	0	0	1	8311	1136	40	1		1	KIAA2022	23	73960072	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		73960072	81310488	133	24164											
ELF4	2000	broad.mit.edu	37	chrX	129206325	129206326	+	Frame_Shift_Del	DEL	AA	AA	-													gcatcgggctcagaggcaggAaacaggtagttgggcagagt							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chrX:129206325_129206326delAA	ENST00000308167.5	-	5	786_787	c.407_408delTT	c.(406-408)tfs	p.F136fs	ELF4_ENST00000335997.7_Frame_Shift_Del_p.F136fs	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	136	RUNX1-binding.				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CAGAGGCAGGAAACAGGTAGTT	0.594			T	ERG	AML								157	113	---	---	---	---						-	129206326	AA	-	129206325	7	5	31	1	0	1	0	1	0	0	0	0	5084	243	9	0	1603	0	ELF4	23	129206325	Frame_Shift_Del	DEL	AA	TCGA-IB-A6UF-01A-23D-A33T-08	55246253	129206325	26064235	134	24165											
CD99L2	83692	broad.mit.edu	37	chrX	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-													ctcagatccgggctggttcgGgcggcggcggcggctctgca					rs7877654	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccc>cc	p.PP256del	CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				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)					GGCTGGTTCGGGCGGCGGCGGCG	0.611													7	488	---	---	---	---						-	149937528	GGC	-	149937526	7	5	31	1	0	1	0	1	0	0	0	0	3073	1232	43	0	22	0	CD99L2	23	149937526	In_Frame_Del	DEL	GGC	TCGA-IB-A6UF-01A-23D-A33T-08	20731201	149937526	5333034	135	24166											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056473.2	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													6	179					0	0	1	0	0	A	889227	G	A	889227	3	1	32	1	0	0	0	0	1	0	0	0	10560	1086	38	1	1474	1	NOC2L	1	889227	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		889227	248361394	1	24167											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	187					0	0	1	0	0	A	1849752	G	A	1849752	3	1	32	1	0	0	0	0	1	0	0	0	16238	1203	42	2	348	2	TMEM52	1	1849752	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	960525	1849752	247400869	2	24168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538803.1_Missense_Mutation_p.R270Q|EPHA8_ENST00000374644.4_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													4	101					0	0	1	0	0	A	22903359	G	A	22903359	3	1	32	1	0	0	0	0	1	0	0	0	5201	1116	39	1	819	1	EPHA8	1	22903359	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	21053607	22903359	226347262	3	24169											
GRIK3	2899	broad.mit.edu	37	chr1	37356679	37356679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggcgttggggccgtccGcatactcgaagattcctcct	12	14	0	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:37356679G>A	ENST00000373091.3	-	2	150	c.134C>T	c.(133-135)gCg>gTg	p.A45V	GRIK3_ENST00000373093.4_Missense_Mutation_p.A45V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	45					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)	GGGGCCGTCCGCATACTCGAA	0.502													6	500					0	0	1	0	0	A	37356679	G	A	37356679	3	1	32	1	0	0	0	0	1	0	0	0	6816	1087	38	1	2685	1	GRIK3	1	37356679	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	14453320	37356679	211893942	4	24170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372413.3_Missense_Mutation_p.R799H|PTPRF_ENST00000372414.3_Missense_Mutation_p.R808H|PTPRF_ENST00000422171.2_Missense_Mutation_p.R156H|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													5	320					0	0	1	0	0	A	44069169	G	A	44069169	3	1	32	1	0	0	0	0	1	0	0	0	12853	1087	38	1	2473	1	PTPRF	1	44069169	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	6712490	44069169	205181452	5	24171											
PTPRF	5792	broad.mit.edu	37	chr1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-													gagcaaggcggagaggagcaGcggcggcggcggcggcaggc							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cag>ca	p.QR1173del	PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1173					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)				GAGAGGAGCAGCGGCGGCGGCGG	0.631													11	455	---	---	---	---						-	44071948	GCG	-	44071946	7	5	32	1	0	1	0	1	0	0	0	0	12853	962	34	0	3589	0	PTPRF	1	44071946	In_Frame_Del	DEL	GCG	TCGA-IB-A6UG-01A-32D-A33T-08	2777	44071946	205178675	6	24172											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	72					0	0	1	0	0	A	68947194	G	A	68947194	3	1	32	1	0	0	0	0	1	0	0	0	4467	1087	38	1	587	1	DEPDC1	1	68947194	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	24875248	68947194	180303427	7	24173											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													170	337					0	0	1	0	0	T	154543680	C	T	154543680	2	4	32	1	0	0	0	0	0	0	0	1	3413	547	19	1		1	CHRNB2	1	154543680	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	85596486	154543680	94706941	8	24174											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:175292513G>A	ENST00000367674.1	-	23	4765	c.4057C>T	c.(4057-4059)Cgg>Tgg	p.R1353W	TNR_ENST00000263525.2_Missense_Mutation_p.R1353W|RP3-518E13.2_ENST00000569593.1_RNA	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1353					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													30	388					0	0	1	0	0	A	175292513	G	A	175292513	3	1	32	1	0	0	0	0	1	0	0	0	16398	1144	40	1	23	1	TNR	1	175292513	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	20748833	175292513	73958108	9	24175											
DHX9	1660	broad.mit.edu	37	chr1	182845185	182845185	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctccctgttttttacagGcaaattgcaacttgatctgt	7	9	2	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:182845185G>A	ENST00000367549.3	+	17	1926	c.1815_splice	c.e17-1	p.A606_splice		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	606					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						TTTTTTACAGGCAAATTGCAA	0.373													4	242					0	0	1	0	0	A	182845185	G	A	182845185	5	1	32	1	0	0	0	0	0	0	1	0	4544	1217	42	2	1878	2	DHX9	1	182845185	Splice_Site	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	7552672	182845185	66405436	10	24176											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Silent_p.S71S|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													31	319					0	0	1	0	0	A	223465929	G	A	223465929	2	1	32	1	0	0	0	0	0	0	0	1	15466	1078	38	1		1	SUSD4	1	223465929	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	40620744	223465929	25784692	11	24177											
LYST	1130	broad.mit.edu	37	chr1	235926125	235926125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaggtacatgattgaccGcactttctcctgaaagatct	7	12	3	4			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:235926125G>A	ENST00000389794.3	-	22	6322	c.6148C>T	c.(6148-6150)Cgg>Tgg	p.R2050W	LYST_ENST00000389793.2_Missense_Mutation_p.R2050W|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2050					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.R2050W(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)			ATGATTGACCGCACTTTCTCC	0.373													5	150					0	0	1	0	0	A	235926125	G	A	235926125	3	1	32	1	0	0	0	0	1	0	0	0	9174	1086	38	1	5385	1	LYST	1	235926125	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	12460196	235926125	13324496	12	24178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	107					0	0	1	0	0	T	248028136	C	T	248028136	3	4	32	1	0	0	0	0	1	0	0	0	16592	759	27	1	656	1	TRIM58	1	248028136	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	12102011	248028136	1222485	13	24179											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395826.2_Missense_Mutation_p.A109V|POMC_ENST00000380794.1_Missense_Mutation_p.A109V|POMC_ENST00000264708.3_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													6	35					0	0	1	0	0	A	25384428	G	A	25384428	3	1	32	1	0	0	0	0	1	0	0	0	12290	1087	38	1	481	1	POMC	2	25384428	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		25384428	217814945	14	24180											
TCF23	150921	broad.mit.edu	37	chr2	27373157	27373157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacatagcccacctcacccGcacactcggccacgagttgc	7	19	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:27373157G>A	ENST00000296096.5	+	2	519	c.389G>A	c.(388-390)cGc>cAc	p.R130H		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	130	Helix-loop-helix motif.				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)					CACCTCACCCGCACACTCGGC	0.652													6	792					0	0	1	0	0	A	27373157	G	A	27373157	3	1	32	1	0	0	0	0	1	0	0	0	15752	1087	38	1	395	1	TCF23	2	27373157	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	1988729	27373157	215826216	15	24181											
AFF3	3899	broad.mit.edu	37	chr2	100210742	100210742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccacttgttagaggatgCcggttcagcctgaaagcaga	12	10	1	3			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:100210742C>T	ENST00000317233.4	-	14	1616	c.1381G>A	c.(1381-1383)Gca>Aca	p.A461T	AFF3_ENST00000409579.1_Missense_Mutation_p.A486T|AFF3_ENST00000409236.1_Missense_Mutation_p.A461T|AFF3_ENST00000356421.2_Missense_Mutation_p.A486T	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	461					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.A486T(1)		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						TTAGAGGATGCCGGTTCAGCC	0.443													6	581					0	0	1	0	0	T	100210742	C	T	100210742	3	4	32	1	0	0	0	0	1	0	0	0	357	739	26	2	2343	2	AFF3	2	100210742	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	72837585	100210742	142988631	16	24182											
RANBP2	5903	broad.mit.edu	37	chr2	109382805	109382805	+	Frame_Shift_Del	DEL	T	T	-													gaagaatggccgtggtgtgaTttttggccaaacaagtagca							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:109382805delT	ENST00000283195.6	+	20	5936	c.5810delT	c.(5809-5811)atfs	p.I1937fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1937					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						CGTGGTGTGATTTTTGGCCAA	0.413													7	981	---	---	---	---						-	109382805	T	-	109382805	7	5	32	1	0	1	0	1	0	0	0	0	13080	1493	52	0	5888	0	RANBP2	2	109382805	Frame_Shift_Del	DEL	T	TCGA-IB-A6UG-01A-32D-A33T-08	9172063	109382805	133816568	17	24183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000421804.2_Missense_Mutation_p.T846A|MERTK_ENST00000409780.1_Missense_Mutation_p.T670A			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													22	242					0	0	1	0	0	G	112785977	A	G	112785977	3	3	32	1	0	0	0	0	1	0	0	0	9529	159	6	3	2610	3	MERTK	2	112785977	Missense_Mutation	SNP	A	TCGA-IB-A6UG-01A-32D-A33T-08	3403172	112785977	130413396	18	24184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357398.3_Silent_p.I1772I|SCN2A_ENST00000283256.6_Silent_p.I1772I|SCN2A_ENST00000375427.2_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													76	297					0	0	1	0	0	T	166245632	C	T	166245632	2	4	32	1	0	0	0	0	0	0	0	1	13970	874	31	1		1	SCN2A	2	166245632	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	53459655	166245632	76953741	19	24185											
CIR1	9541	broad.mit.edu	37	chr2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T													ctttcttttcttcctttgtaINStttttttttctttattgtta							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)acafs	p.T289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	Lys/Ser-rich.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						cttcctttgtatttttttttct	0.381													7	168	---	---	---	---						T	175213713	-	T	175213712	7	5	32	1	0	1	1	0	0	0	0	0	3454	449	16	0	490	0	CIR1	2	175213712	Frame_Shift_Ins	INS	-	TCGA-IB-A6UG-01A-32D-A33T-08	8968080	175213712	67985661	20	24186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:197135945G>A	ENST00000260983.2	-	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	1103					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													15	109					0	0	1	0	0	A	197135945	G	A	197135945	3	1	32	1	0	0	0	0	1	0	0	0	7084	1261	44	2	1463	2	HECW2	2	197135945	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	21922233	197135945	46063428	21	24187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000425132.1_Intron|CREB1_ENST00000430624.1_Nonstop_Mutation_p.*328E|CREB1_ENST00000374397.4_Nonstop_Mutation_p.*231E|CREB1_ENST00000353267.3_Nonstop_Mutation_p.*328E|METTL21A_ENST00000458426.1_Intron	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"								36	141					0	0	1	0	0	G	208461780	T	G	208461780	4	3	32	1	0	0	0	0	0	0	0	0	3877	1767	61	3	1054	3	CREB1	2	208461780	Nonstop_Mutation	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	11325835	208461780	34737593	22	24188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	352					2.95478e-19	3.26581e-19	1	1	0	T	219870881	G	T	219870881	3	4	32	1	0	0	0	0	1	0	0	0	2761	1348	47	2	1013	2	CCDC108	2	219870881	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	11409101	219870881	23328492	23	24189											
CCDC108	255101	broad.mit.edu	37	chr2	219892687	219892687	+	Frame_Shift_Del	DEL	G	G	-													tcgaagaagaactcggtcatGggggggatataagggtactg							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:219892687delG	ENST00000341552.5	-	13	1979	c.1896delC	c.(1894-1896)ccfs	p.P632fs	CCDC108_ENST00000410037.1_Frame_Shift_Del_p.P567fs|CCDC108_ENST00000409865.3_Frame_Shift_Del_p.P621fs|CCDC108_ENST00000453220.1_Frame_Shift_Del_p.P632fs|CCDC108_ENST00000441968.1_Frame_Shift_Del_p.P632fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	632						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)		ACTCGGTCATGGGGGGGATAT	0.597													7	529	---	---	---	---						-	219892687	G	-	219892687	7	5	32	1	0	1	0	1	0	0	0	0	2761	1335	47	0	3973	0	CCDC108	2	219892687	Frame_Shift_Del	DEL	G	TCGA-IB-A6UG-01A-32D-A33T-08	21806	219892687	23306686	24	24190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	329					7.41945e-09	7.79042e-09	1	1	0	T	220414551	G	T	220414551	3	4	32	1	0	0	0	0	1	0	0	0	16179	1319	46	2	1072	2	TMEM198	2	220414551	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	521864	220414551	22784822	25	24191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	235					0	0	1	0	0	A	228996774	G	A	228996774	2	1	32	1	0	0	0	0	0	0	0	1	15104	1136	40	1		1	SPHKAP	2	228996774	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	8582223	228996774	14202599	26	24192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	146					0	0	1	0	0	T	241679772	C	T	241679772	2	4	32	1	0	0	0	0	0	0	0	1	8325	639	23	1		1	KIF1A	2	241679772	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	12682998	241679772	1519601	27	24193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000428977.2_Missense_Mutation_p.R919G|TRANK1_ENST00000301807.6_Missense_Mutation_p.R919G			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													4	140					0	0	1	0	0	C	36896676	T	C	36896676	3	2	32	1	0	0	0	0	1	0	0	0	16515	1579	55	3	4420	3	TRANK1	3	36896676	Missense_Mutation	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08		36896676	161125754	28	24194											
ULK4	54986	broad.mit.edu	37	chr3	41860984	41860985	+	Frame_Shift_Ins	INS	-	-	T													cccagcactctctagggttcINSttttttttttcttcctaaaa					rs76318575		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:41860984_41860985insT	ENST00000301831.4	-	19	2240_2241	c.1778_1779insA	c.(1777-1779)aaafs	p.K593fs		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	593							ATP binding|protein serine/threonine kinase activity	p.K593fs*17(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTCTAGGGTTCTTTTTTTTTTC	0.45													12	252	---	---	---	---						T	41860985	-	T	41860984	7	5	32	1	0	1	1	0	0	0	0	0	17038	912	32	0	2124	0	ULK4	3	41860984	Frame_Shift_Ins	INS	-	TCGA-IB-A6UG-01A-32D-A33T-08	4964308	41860984	156161446	29	24195											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535920.1_Silent_p.D456D|PDZRN3_ENST00000479530.1_Silent_p.D451D|PDZRN3_ENST00000466780.1_Silent_p.D391D|PDZRN3_ENST00000462146.2_Silent_p.D391D	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													34	141					0	0	1	0	0	A	73433515	G	A	73433515	2	1	32	1	0	0	0	0	0	0	0	1	11756	1136	40	1		1	PDZRN3	3	73433515	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	31572531	73433515	124588915	30	24196											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535920.1_Missense_Mutation_p.D248G|PDZRN3_ENST00000479530.1_Missense_Mutation_p.D243G|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000466780.1_Missense_Mutation_p.D183G|PDZRN3_ENST00000462146.2_Missense_Mutation_p.D183G	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													24	291					0	0	1	0	0	C	73434878	T	C	73434878	3	2	32	1	0	0	0	0	1	0	0	0	11756	1667	58	3	1631	3	PDZRN3	3	73434878	Missense_Mutation	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	1363	73434878	124587552	31	24197											
OR5H1	26341	broad.mit.edu	37	chr3	97851900	97851900	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcttggcaacgatggcatAtgatcgctatgtagccatat	9	9	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:97851900A>G	ENST00000354565.2	+	1	359	c.359A>G	c.(358-360)tAt>tGt	p.Y120C	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	120					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						ACGATGGCATATGATCGCTAT	0.393													5	631					0	0	1	0	0	G	97851900	A	G	97851900	3	3	32	1	0	0	0	0	1	0	0	0	11206	449	16	3	361	3	OR5H1	3	97851900	Missense_Mutation	SNP	A	TCGA-IB-A6UG-01A-32D-A33T-08	24417022	97851900	100170530	32	24198											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:113755633T>A	ENST00000295878.3	-	5	562	c.415_splice	c.e5-1	p.D139_splice	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													23	119					0	0	1	0	0	A	113755633	T	A	113755633	5	1	32	1	0	0	0	0	0	0	1	0	8271	1449	50	5	2446	5	KIAA1407	3	113755633	Splice_Site	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	15903733	113755633	84266797	33	24199											
ATP13A5	344905	broad.mit.edu	37	chr3	193042744	193042744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcagctggccatggccGcacacagtgggctccatggc	15	13	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:193042744G>A	ENST00000342358.4	-	14	1700	c.1583C>T	c.(1582-1584)gCg>gTg	p.A528V		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	528					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)		GGCCATGGCCGCACACAGTGG	0.532													5	488					0	0	1	0	0	A	193042744	G	A	193042744	3	1	32	1	0	0	0	0	1	0	0	0	1126	1087	38	1	2139	1	ATP13A5	3	193042744	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	79287111	193042744	4979686	34	24200											
LSG1	55341	broad.mit.edu	37	chr3	194379717	194379717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcaggggaatggctccgGccaaagctgaccagaaaata	11	10	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:194379717G>A	ENST00000265245.5	-	7	1042	c.728C>T	c.(727-729)gCc>gTc	p.A243V		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	243					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		AATGGCTCCGGCCAAAGCTGA	0.468													6	542					0	0	1	0	0	A	194379717	G	A	194379717	3	1	32	1	0	0	0	0	1	0	0	0	9094	1203	42	2	1280	2	LSG1	3	194379717	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	1336973	194379717	3642713	35	24201											
TBC1D1	23216	broad.mit.edu	37	chr4	38020014	38020014	+	Frame_Shift_Del	DEL	A	A	-													acctcatcagtcctgacaccAaaaaaatagcattggagaaa							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:38020014delA	ENST00000261439.4	+	4	1277	c.922delA	c.(922-924)aafs	p.K309fs	TBC1D1_ENST00000508802.1_Frame_Shift_Del_p.K309fs	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	309	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						TCCTGACACCAAAAAAATAGC	0.313													7	245	---	---	---	---						-	38020014	A	-	38020014	7	5	32	1	0	1	0	1	0	0	0	0	15654	131	5	0	932	0	TBC1D1	4	38020014	Frame_Shift_Del	DEL	A	TCGA-IB-A6UG-01A-32D-A33T-08		38020014	153134262	36	24202											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:119686069delG	ENST00000379735.5	-	10	1458	c.1187delC	c.(1186-1188)cafs	p.P397fs	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000511481.1_Frame_Shift_Del_p.P27fs|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000280551.6_Frame_Shift_Del_p.P396fs	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	396					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													25	290	---	---	---	---						-	119686069	G	-	119686069	7	5	32	1	0	1	0	1	0	0	0	0	14051	1348	47	0	1970	0	SEC24D	4	119686069	Frame_Shift_Del	DEL	G	TCGA-IB-A6UG-01A-32D-A33T-08	81666055	119686069	71468207	37	24203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000513531.1_Missense_Mutation_p.R308H|TRPC3_ENST00000379645.3_Missense_Mutation_p.R381H	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													56	324					0	0	1	0	0	T	122846207	C	T	122846207	3	4	32	1	0	0	0	0	1	0	0	0	16640	536	19	1	1663	1	TRPC3	4	122846207	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3160138	122846207	68308069	38	24204											
SH3RF1	57630	broad.mit.edu	37	chr4	170038691	170038691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgtcctcacagcattgCgggcctggttgactgtcatt	10	12	2	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:170038691C>T	ENST00000284637.9	-	9	2101	c.1760G>A	c.(1759-1761)cGc>cAc	p.R587H	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	587						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)		CACAGCATTGCGGGCCTGGTT	0.502													5	304					0	0	1	0	0	T	170038691	C	T	170038691	3	4	32	1	0	0	0	0	1	0	0	0	14313	768	27	1	922	1	SH3RF1	4	170038691	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	47192484	170038691	21115585	39	24205											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	334					0	0	1	0	0	A	1083957	G	A	1083957	2	1	32	1	0	0	0	0	0	0	0	1	14443	1136	40	1		1	SLC12A7	5	1083957	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		1083957	179831303	40	24206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	102					0	0	1	0	0	A	1246093	G	A	1246093	3	1	32	1	0	0	0	0	1	0	0	0	14736	1116	39	1	1833	1	SLC6A18	5	1246093	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	162136	1246093	179669167	41	24207											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				8	396					0	0	1	0	0	A	13776708	G	A	13776708	2	1	32	1	0	0	0	0	0	0	0	1	4632	1136	40	1		1	DNAH5	5	13776708	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	12530615	13776708	167138552	42	24208											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000510662.1_Silent_p.N118N|FBXL7_ENST00000329673.7_Silent_p.N153N	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													5	92					0	0	1	0	0	T	15928366	C	T	15928366	2	4	32	1	0	0	0	0	0	0	0	1	5757	535	19	1		1	FBXL7	5	15928366	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	2151658	15928366	164986894	43	24209											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			51	277					3.50607e-19	3.8526e-19	1	1	0	A	33576636	C	A	33576636	3	1	32	1	0	0	0	0	1	0	0	0	256	796	28	2	1313	2	ADAMTS12	5	33576636	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	17648270	33576636	147338624	44	24210											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.A426A|PCDHA1_ENST00000504120.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														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													137	517					0	0	1	0	0	A	140236911	G	A	140236911	2	1	32	1	0	0	0	0	0	0	0	1	11567	1074	38	1		1	PCDHA10	5	140236911	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	106660275	140236911	40678349	45	24211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518142.1_Silent_p.S709S|GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000521843.2_Silent_p.S720S|GRIA1_ENST00000518783.1_Silent_p.S799S	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													22	126					0	0	1	0	0	T	153174277	C	T	153174277	2	4	32	1	0	0	0	0	0	0	0	1	6808	767	27	1		1	GRIA1	5	153174277	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	12937366	153174277	27740983	46	24212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	343					0	0	1	0	0	A	154393886	G	A	154393886	3	1	32	1	0	0	0	0	1	0	0	0	8346	1145	40	1	469	1	KIF4B	5	154393886	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	1219609	154393886	26521374	47	24213											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:180051060G>A	ENST00000261937.6	-	11	1501	c.1421_splice	c.e11-1	p.R475_splice	FLT4_ENST00000502649.1_Splice_Site_p.R475_splice|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Splice_Site_p.R475_splice	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													16	125					0	0	1	0	0	A	180051060	G	A	180051060	5	1	32	1	0	0	0	0	0	0	1	0	5977	1130	39	1	2756	1	FLT4	5	180051060	Splice_Site	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	25657174	180051060	864200	48	24214											
GFOD1	54438	broad.mit.edu	37	chr6	13365582	13365582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccttgacggccttttggCcggtgaggaaggtgagcagg	18	8	0	3			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:13365582C>T	ENST00000379287.3	-	2	1230	c.566G>A	c.(565-567)gGc>gAc	p.G189D	GFOD1_ENST00000379284.1_Missense_Mutation_p.G86D	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	189						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)			GGCCTTTTGGCCGGTGAGGAA	0.602													4	140					0	0	1	0	0	T	13365582	C	T	13365582	3	4	32	1	0	0	0	0	1	0	0	0	6385	739	26	2	610	2	GFOD1	6	13365582	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08		13365582	157749485	49	24215											
ZNF184	7738	broad.mit.edu	37	chr6	27419354	27419354	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctccccagtgtgaattcGttgatgctgagttagatggg	12	8	1	4			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:27419354G>A	ENST00000211936.6	-	6	2268	c.1984C>T	c.(1984-1986)Cga>Tga	p.R662*	ZNF184_ENST00000377419.1_Nonsense_Mutation_p.R662*	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	662					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						GTGTGAATTCGTTGATGCTGA	0.423													27	219					0	0	1	0	0	A	27419354	G	A	27419354	4	1	32	1	0	0	0	0	0	1	0	0	17809	1153	40	1	275	1	ZNF184	6	27419354	Nonsense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	14053772	27419354	143695713	50	24216											
MDC1	9656	broad.mit.edu	37	chr6	30673086	30673086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgtggaggtggaaggccGgagctcaggggctgtgggca	21	7	2	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:30673086G>A	ENST00000376406.3	-	10	4521	c.3874C>T	c.(3874-3876)Cgg>Tgg	p.R1292W	MDC1_ENST00000376405.2_Missense_Mutation_p.R1028W|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1292	Interaction with the PRKDC complex.|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						GTGGAAGGCCGGAGCTCAGGG	0.552								Other conserved DNA damage response genes					6	907					0	0	1	0	0	A	30673086	G	A	30673086	3	1	32	1	0	0	0	0	1	0	0	0	9453	1115	39	1	2419	1	MDC1	6	30673086	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	3253732	30673086	140441981	51	24217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373213.4_Silent_p.A255A|KIF6_ENST00000538893.1_Silent_p.A416A|KIF6_ENST00000373215.3_Silent_p.A416A|KIF6_ENST00000373216.3_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													30	243					0	0	1	0	0	T	39513398	C	T	39513398	2	4	32	1	0	0	0	0	0	0	0	1	8350	639	23	1		1	KIF6	6	39513398	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	8840312	39513398	131601669	52	24218											
TYW1	55253	broad.mit.edu	37	chr7	66479413	66479413	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacactgacggcctaccaacTgaaagtgcagagtggttctg	11	10	1	3	rs145686658	by1000genomes	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:66479413T>C	ENST00000359626.5	+	5	599	c.435T>C	c.(433-435)acT>acC	p.T145T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	145	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.T145T(1)		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)				GCCTACCAACTGAAAGTGCAG	0.428													5	493					0	0	1	0	0	C	66479413	T	C	66479413	2	2	32	1	0	0	0	0	0	0	0	1	16880	1567	55	3		3	TYW1	7	66479413	Silent	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08		66479413	92659250	53	24219											
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-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	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													5	583					0	0	1	0	0	T	99687011	C	T	99687011	3	4	32	1	0	0	0	0	1	0	0	0	3760	768	27	1	181	1	COPS6	7	99687011	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	33207598	99687011	59451652	54	24220											
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-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	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													8	868					0	0	1	0	0	G	99913460	A	G	99913460	2	3	32	1	0	0	0	0	0	0	0	1	15088	175	7	3		3	SPDYE3	7	99913460	Silent	SNP	A	TCGA-IB-A6UG-01A-32D-A33T-08	226449	99913460	59225203	55	24221											
SLC35B4	84912	broad.mit.edu	37	chr7	133979789	133979789	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgacggtgagggaggcGcattctgtggtgaggataaa	18	5	1	3			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:133979789G>A	ENST00000378509.4	-	10	1091	c.792C>T	c.(790-792)tgC>tgT	p.C264C	SLC35B4_ENST00000466599.1_Intron	NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	264						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						TGAGGGAGGCGCATTCTGTGG	0.537													6	764					0	0	1	0	0	A	133979789	G	A	133979789	2	1	32	1	0	0	0	0	0	0	0	1	14633	1079	38	1		1	SLC35B4	7	133979789	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	34066329	133979789	25158874	56	24222											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	75					2.35188e-11	2.49722e-11	1	1	0	T	149500902	G	T	149500902	1	4	32	0	1	0	0	0	0	0	0	0	15245	1275	44	2		2	SSPO	7	149500902	RNA	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	15521113	149500902	9637761	57	24223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000519229.1_Missense_Mutation_p.T391M|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Missense_Mutation_p.T391M|ADRA1A_ENST00000380586.1_Missense_Mutation_p.T391M|ADRA1A_ENST00000354550.4_Missense_Mutation_p.T391M|ADRA1A_ENST00000380587.1_Intron			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													53	393					0	0	1	0	0	A	26627895	G	A	26627895	3	1	32	1	0	0	0	0	1	0	0	0	333	1145	40	1	523	1	ADRA1A	8	26627895	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		26627895	119736127	58	24224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	251					1.03484e-13	1.11762e-13	1	1	0	T	28385210	G	T	28385210	3	4	32	1	0	0	0	0	1	0	0	0	6166	1270	44	2	943	2	FZD3	8	28385210	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	1757315	28385210	117978812	59	24225											
SLC20A2	6575	broad.mit.edu	37	chr8	42294841	42294841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaaaggtggcgtgcactgGcagcccacaaatggctgcgg	15	11	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:42294841G>A	ENST00000342228.3	-	8	1558	c.1189C>T	c.(1189-1191)Cca>Tca	p.P397S	SLC20A2_ENST00000520262.1_Missense_Mutation_p.P397S|SLC20A2_ENST00000520179.1_Missense_Mutation_p.P397S	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	397					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|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;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCGTGCACTGGCAGCCCACAA	0.622													5	505					0	0	1	0	0	A	42294841	G	A	42294841	3	1	32	1	0	0	0	0	1	0	0	0	14494	1203	42	2	785	2	SLC20A2	8	42294841	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	13909631	42294841	104069181	60	24226											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000522225.1_5'UTR|RGS20_ENST00000344277.6_Intron|RGS20_ENST00000297313.3_Intron	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													9	66					0	0	1	0	0	T	54793583	C	T	54793583	3	4	32	1	0	0	0	0	1	0	0	0	13353	536	19	1	528	1	RGS20	8	54793583	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	12498742	54793583	91570439	61	24227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													53	267					0	0	1	0	0	A	55049226	G	A	55049226	5	1	32	1	0	0	0	0	0	0	1	0	9829	1275	44	2	270	2	MRPL15	8	55049226	Splice_Site	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	255643	55049226	91314796	62	24228											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	531					0	0	1	0	0	T	89198805	C	T	89198805	3	4	32	1	0	0	0	0	1	0	0	0	9703	652	23	1	1707	1	MMP16	8	89198805	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	34149579	89198805	57165217	63	24229											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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													6	467					0	0	1	0	0	A	125035751	G	A	125035751	3	1	32	1	0	0	0	0	1	0	0	0	5848	1087	38	1	2267	1	FER1L6	8	125035751	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	35836946	125035751	21328271	64	24230											
TG	7038	broad.mit.edu	37	chr8	133984068	133984068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgaacgacggtgcgatgCggacccatgctgcactggct	14	11	0	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:133984068C>T	ENST00000220616.4	+	33	6045	c.6005C>T	c.(6004-6006)gCg>gTg	p.A2002V	TG_ENST00000519543.1_Missense_Mutation_p.A156V|TG_ENST00000542445.1_Missense_Mutation_p.A372V|TG_ENST00000377869.1_Missense_Mutation_p.A1945V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2002					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)		CGGTGCGATGCGGACCCATGC	0.493													4	215					0	0	1	0	0	T	133984068	C	T	133984068	3	4	32	1	0	0	0	0	1	0	0	0	15873	768	27	1	6135	1	TG	8	133984068	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	8948317	133984068	12379954	65	24231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			109	361					0	0	1	0	0	T	139737642	C	T	139737642	2	4	32	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	5753574	139737642	6626380	66	24232											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449720.2_Silent_p.F894F|KIAA1432_ENST00000251879.6_Silent_p.F1010F|KIAA1432_ENST00000418622.3_Silent_p.F931F|KIAA1432_ENST00000381532.2_Silent_p.F931F	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													56	576					0	0	1	0	0	T	5765691	C	T	5765691	2	4	32	1	0	0	0	0	0	0	0	1	8275	912	32	2		2	KIAA1432	9	5765691	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08		5765691	135447740	67	24233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498124.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|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)			35	65					0	0	1	0	0	A	21971120	G	A	21971120	4	1	32	1	0	0	0	0	0	1	0	0	3183	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	16205429	21971120	119242311	68	24234											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	131					0	0	1	0	0	A	117029789	G	A	117029789	2	1	32	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	95058669	117029789	24183642	69	24235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													93	415					0	0	1	0	0	T	37508147	A	T	37508147	3	4	32	1	0	0	0	0	1	0	0	0	654	69	3	5	3473	5	ANKRD30A	10	37508147	Missense_Mutation	SNP	A	TCGA-IB-A6UG-01A-32D-A33T-08		37508147	98026600	70	24236											
TMEM26	219623	broad.mit.edu	37	chr10	63212668	63212668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatttgtagcctctgccgcGcttgaacttgagggtgagcg	13	11	1	3			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:63212668G>A	ENST00000399298.3	-	1	540	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	TMEM26_ENST00000399293.1_Missense_Mutation_p.R58C|RP11-809M12.1_ENST00000389640.4_RNA	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	58						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					CCTCTGCCGCGCTTGAACTTG	0.637													5	502					0	0	1	0	0	A	63212668	G	A	63212668	3	1	32	1	0	0	0	0	1	0	0	0	16211	1087	38	1	958	1	TMEM26	10	63212668	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	25704521	63212668	72322079	71	24237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.R420H	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)	18	121					0	0	1	0	0	T	100185374	C	T	100185374	3	4	32	1	0	0	0	0	1	0	0	0	7380	768	27	1	875	1	HPS1	10	100185374	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	36972706	100185374	35349373	72	24238											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000330036.6_Missense_Mutation_p.S281C|SFXN4_ENST00000461438.1_5'UTR	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													62	287					0	0	1	0	0	C	120905815	G	C	120905815	3	2	32	1	0	0	0	0	1	0	0	0	14251	942	33	5	152	5	SFXN4	10	120905815	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	20720441	120905815	14628932	73	24239											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	98					1.15919e-05	1.19719e-05	1	1	0	T	129871718	G	T	129871718	3	4	32	1	0	0	0	0	1	0	0	0	12852	1261	44	2	1679	2	PTPRE	10	129871718	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	8965903	129871718	5663029	74	24240											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	232					7.07596e-05	7.26824e-05	1	1	0	A	6789727	C	A	6789727	2	1	32	1	0	0	0	0	0	0	0	1	11033	813	29	2		2	OR2AG2	11	6789727	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08		6789727	128216789	75	24241											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:20968881G>T	ENST00000298925.5	+	12	1308		c.e12-1		NELL1_ENST00000532434.1_Splice_Site|NELL1_ENST00000325319.5_Splice_Site|NELL1_ENST00000357134.5_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													31	296					1.08312e-15	1.17649e-15	1	1	0	T	20968881	G	T	20968881	5	4	32	1	0	0	0	0	0	0	1	0	10380	1014	35	2	1113	2	NELL1	11	20968881	Splice_Site	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	14179154	20968881	114037635	76	24242											
LRP4	4038	broad.mit.edu	37	chr11	46890546	46890546	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgggagcccacctgtctgCcgctgaggggaaaccacgat	13	15	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:46890546C>T	ENST00000378623.1	-	32	5072	c.4830G>A	c.(4828-4830)cgG>cgA	p.R1610R	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1610					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)		CACCTGTCTGCCGCTGAGGGG	0.542													5	385					0	0	1	0	0	T	46890546	C	T	46890546	2	4	32	1	0	0	0	0	0	0	0	1	9004	726	26	2		2	LRP4	11	46890546	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	25921665	46890546	88115970	77	24243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													149	648					0	0	1	0	0	A	62297984	G	A	62297984	3	1	32	1	0	0	0	0	1	0	0	0	411	1116	39	1	13887	1	AHNAK	11	62297984	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	15407438	62297984	72708532	78	24244											
INTS5	80789	broad.mit.edu	37	chr11	62414590	62414590	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtggaggacactgtgcaGcacagccagatggggtccac	16	11	0	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:62414590G>A	ENST00000330574.2	-	2	3014	c.2962C>T	c.(2962-2964)Ctg>Ttg	p.L988L		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	988					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						ACACTGTGCAGCACAGCCAGA	0.602													5	537					0	0	1	0	0	A	62414590	G	A	62414590	2	1	32	1	0	0	0	0	0	0	0	1	7825	962	34	2		2	INTS5	11	62414590	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	116606	62414590	72591926	79	24245											
SAC3D1	29901	broad.mit.edu	37	chr11	64811880	64811880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgccatgtgggccatgCccgccgggaagccctggccc	15	16	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:64811880C>T	ENST00000398846.1	+	2	1147	c.758C>T	c.(757-759)gCc>gTc	p.A253V	SAC3D1_ENST00000531072.1_Missense_Mutation_p.A253V|SAC3D1_ENST00000530213.1_3'UTR	NM_013299.3	NP_037431.3			SAC3 domain containing 1											endometrium(2)|lung(1)	3						GTGGGCCATGCCCGCCGGGAA	0.652													6	528					0	0	1	0	0	T	64811880	C	T	64811880	3	4	32	1	0	0	0	0	1	0	0	0	13854	739	26	2	764	2	SAC3D1	11	64811880	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	2397290	64811880	70194636	80	24246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	21					0	0	1	0	0	T	65810433	C	T	65810433	3	4	32	1	0	0	0	0	1	0	0	0	6239	768	27	1	458	1	GAL3ST3	11	65810433	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	998553	65810433	69196083	81	24247											
SF3B2	10992	broad.mit.edu	37	chr11	65820521	65820521	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatcgtgctgaatcggccGgttttgagaggggaagatgg	18	6	0	3			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:65820521G>A	ENST00000528302.1	+	3	258	c.204G>A	c.(202-204)ccG>ccA	p.P68P	SF3B2_ENST00000322535.6_Silent_p.P68P			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	68					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						TGAATCGGCCGGTTTTGAGAG	0.483													5	716					0	0	1	0	0	A	65820521	G	A	65820521	2	1	32	1	0	0	0	0	0	0	0	1	14205	1103	39	1		1	SF3B2	11	65820521	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	10088	65820521	69185995	82	24248											
RPS6KB2	6199	broad.mit.edu	37	chr11	67202460	67202460	+	Splice_Site	DEL	C	C	-													tgccttggtttcccctgcagCcccctcaagttctccccttt							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:67202460delC	ENST00000312629.5	+	15	1314	c.1268_splice	c.e15-1	p.S423_splice	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	423	Pro-rich.				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)			TCCCCTGCAGCCCCCTCAAGT	0.657													55	753	---	---	---	---						-	67202460	C	-	67202460	8	5	32	1	0	1	0	1	0	0	1	0	13709	753	26	0	1327	0	RPS6KB2	11	67202460	Splice_Site	DEL	C	TCGA-IB-A6UG-01A-32D-A33T-08	1381939	67202460	67804056	83	24249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	236					0	0	1	0	0	G	101868356	C	G	101868356	3	3	32	1	0	0	0	0	1	0	0	0	8269	796	28	5	3378	5	KIAA1377	11	101868356	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	34665896	101868356	33138160	84	24250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													145	499					0	0	1	0	0	T	123893818	C	T	123893818	2	4	32	1	0	0	0	0	0	0	0	1	10952	547	19	1		1	OR10G9	11	123893818	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	22025462	123893818	11112698	85	24251											
LPCAT3	10162	broad.mit.edu	37	chr12	7092677	7092677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgtagaaaaggtaatgccGataaaacaaagcaaaggggt	11	5	0	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:7092677G>A	ENST00000261407.4	-	2	260	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	U47924.19_ENST00000564245.1_RNA	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	59					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						AGGTAATGCCGATAAAACAAA	0.408													5	443					0	0	1	0	0	A	7092677	G	A	7092677	3	1	32	1	0	0	0	0	1	0	0	0	8957	1057	37	1	1332	1	LPCAT3	12	7092677	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		7092677	126759218	86	24252											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	344					0	0	1	0	0	C	21733405	T	C	21733405	2	2	32	1	0	0	0	0	0	0	0	1	6954	1490	52	3		3	GYS2	12	21733405	Silent	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	14640728	21733405	112118490	87	24253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)			6	69					0	0	1	0	0	T	25398284	C	T	25398284	3	4	32	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3664879	25398284	108453611	88	24254											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000293590.5_Missense_Mutation_p.R209H|FMNL3_ENST00000550488.1_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													56	263					0	0	1	0	0	T	50050953	C	T	50050953	3	4	32	1	0	0	0	0	1	0	0	0	5986	768	27	1	2537	1	FMNL3	12	50050953	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	24652669	50050953	83800942	89	24255											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	451					0	0	1	0	0	T	53898955	C	T	53898955	3	4	32	1	0	0	0	0	1	0	0	0	15613	768	27	1	676	1	TARBP2	12	53898955	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3848002	53898955	79952940	90	24256											
SLC39A5	283375	broad.mit.edu	37	chr12	56629464	56629464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacatgctggggcttttgCggcaccgagggctcaggcca	15	11	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:56629464C>T	ENST00000266980.4	+	6	1218	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	309					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	p.R308W(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCTTTTGCGGCACCGAGG	0.632													7	990					0	0	1	0	0	T	56629464	C	T	56629464	3	4	32	1	0	0	0	0	1	0	0	0	14676	759	27	1	943	1	SLC39A5	12	56629464	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	2730509	56629464	77222431	91	24257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000552540.1_Missense_Mutation_p.R71W|NACA_ENST00000393891.4_Missense_Mutation_p.R71W|NACA_ENST00000548563.1_5'UTR|NACA_ENST00000356769.3_Missense_Mutation_p.R71W|NACA_ENST00000550952.1_Missense_Mutation_p.R781W|NACA_ENST00000551793.1_5'UTR|NACA_ENST00000546392.1_Missense_Mutation_p.R71W	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								18	176					0	0	1	0	0	A	57108169	G	A	57108169	3	1	32	1	0	0	0	0	1	0	0	0	10181	1057	37	1	456	1	NACA	12	57108169	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	478705	57108169	76743726	92	24258											
STAB2	55576	broad.mit.edu	37	chr12	104107532	104107532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggctacacgggtgatgGcattgtgtgcctgggtaggt	17	7	0	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:104107532G>A	ENST00000388887.2	+	42	4727	c.4523G>A	c.(4522-4524)gGc>gAc	p.G1508D		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1508	EGF-like 12.				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						ACGGGTGATGGCATTGTGTGC	0.517													6	690					0	0	1	0	0	A	104107532	G	A	104107532	3	1	32	1	0	0	0	0	1	0	0	0	15294	1203	42	2	4689	2	STAB2	12	104107532	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	46999363	104107532	29744363	93	24259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	121					0	0	1	0	0	T	117728173	C	T	117728173	3	4	32	1	0	0	0	0	1	0	0	0	10588	768	27	1	3497	1	NOS1	12	117728173	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	13620641	117728173	16123722	94	24260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000302528.7_Missense_Mutation_p.T582I|CLIP1_ENST00000361654.4_Missense_Mutation_p.T547I|CLIP1_ENST00000545889.1_Missense_Mutation_p.T283I|CLIP1_ENST00000540338.1_Missense_Mutation_p.T593I|CLIP1_ENST00000537178.1_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													5	590					0	0	1	0	0	A	122825973	G	A	122825973	3	1	32	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	95	24261											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	131					0	0	1	0	0	A	130184773	G	A	130184773	3	1	32	1	0	0	0	0	1	0	0	0	16107	1115	39	1	2781	1	TMEM132D	12	130184773	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	7358800	130184773	3667122	96	24262											
TMEM55B	90809	broad.mit.edu	37	chr14	20927580	20927580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacaacgtgccaaagtgCggtctgtgaactctgtccac	12	11	2	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:20927580C>T	ENST00000250489.4	-	5	852	c.566G>A	c.(565-567)cGc>cAc	p.R189H	TMEM55B_ENST00000554028.1_Missense_Mutation_p.R22H|TMEM55B_ENST00000398020.4_Missense_Mutation_p.R196H			Q86T03	TM55B_HUMAN	transmembrane protein 55B	189						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	p.R189H(1)		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)		TGCCAAAGTGCGGTCTGTGAA	0.443													5	545					0	0	1	0	0	T	20927580	C	T	20927580	3	4	32	1	0	0	0	0	1	0	0	0	16242	768	27	1	279	1	TMEM55B	14	20927580	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08		20927580	86421960	97	24263											
TOX4	9878	broad.mit.edu	37	chr14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-													cagtgttgcaggcagcagcaGctgctgctgctgctgcttct							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)del	p.A434del	TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	p.A429A(1)		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)		GGCAGCAGCAGCTGCTGCTGCTG	0.581													11	940	---	---	---	---						-	21961062	GCT	-	21961060	7	5	32	1	0	1	0	1	0	0	0	0	16441	971	34	0	1311	0	TOX4	14	21961060	In_Frame_Del	DEL	GCT	TCGA-IB-A6UG-01A-32D-A33T-08	1033480	21961060	85388480	98	24264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	328					1.44317e-28	1.60446e-28	1	1	0	A	47120810	C	A	47120810	3	1	32	1	0	0	0	0	1	0	0	0	13608	855	30	2	518	2	RPL10L	14	47120810	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	25159750	47120810	60228730	99	24265											
PRKCH	5583	broad.mit.edu	37	chr14	62014535	62014535	+	Frame_Shift_Del	DEL	T	T	-													cacgccatcttgagacatccTttttttaaggaaatcgactg							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:62014535delT	ENST00000332981.5	+	13	2221	c.1836delT	c.(1834-1836)ccfs	p.P612fs	RP11-47I22.4_ENST00000556347.1_Frame_Shift_Del_p.L117fs|PRKCH_ENST00000555082.1_Frame_Shift_Del_p.P451fs|PRKCH_ENST00000556245.1_3'UTR	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	612	Protein kinase.		P -> S (in dbSNP:rs34159231).		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)		TGAGACATCCTTTTTTTAAGG	0.522													8	1239	---	---	---	---						-	62014535	T	-	62014535	7	5	32	1	0	1	0	1	0	0	0	0	12565	1596	56	0	1886	0	PRKCH	14	62014535	Frame_Shift_Del	DEL	T	TCGA-IB-A6UG-01A-32D-A33T-08	14893725	62014535	45335005	100	24266											
PTPN21	11099	broad.mit.edu	37	chr14	88945628	88945630	+	In_Frame_Del	DEL	TCC	TCC	-													tctcctcctcgaagtcctcgTcctcctcctcctcgctgctg							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:88945628_88945630delTCC	ENST00000556564.1	-	13	2429_2431	c.2145_2147delGGA	c.(2143-2148)gac>ga	p.ED717del	PTPN21_ENST00000328736.3_In_Frame_Del_p.ED717del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	717	Poly-Glu.					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						GAAGTCCTCGTCCTCCTCCTCCT	0.704													9	195	---	---	---	---						-	88945630	TCC	-	88945628	7	5	32	1	0	1	0	1	0	0	0	0	12838	1667	58	0	1405	0	PTPN21	14	88945628	In_Frame_Del	DEL	TCC	TCGA-IB-A6UG-01A-32D-A33T-08	26931093	88945628	18403912	101	24267											
SETD3	84193	broad.mit.edu	37	chr14	99871551	99871551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctacgtacgtggggatgCcggcacgagccaagacctcg	13	12	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:99871551C>T	ENST00000331768.5	-	10	1241	c.1082G>A	c.(1081-1083)gGc>gAc	p.G361D		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	361					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CGTGGGGATGCCGGCACGAGC	0.433													6	659					0	0	1	0	0	T	99871551	C	T	99871551	3	4	32	1	0	0	0	0	1	0	0	0	14186	739	26	2	718	2	SETD3	14	99871551	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	10925923	99871551	7477989	102	24268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	301					0	0	1	0	0	A	102028612	G	A	102028612	3	1	32	1	0	0	0	0	1	0	0	0	4554	1145	40	1	781	1	DIO3	14	102028612	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	2157061	102028612	5320928	103	24269											
CDC42BPB	9578	broad.mit.edu	37	chr14	103416202	103416202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacagacgactgcatatgCgcgctgccatcccttcttca	8	15	3	1	rs142564408		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:103416202C>T	ENST00000361246.2	-	26	3637	c.3349G>A	c.(3349-3351)Gca>Aca	p.A1117T		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1117	PH.				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)		ACTGCATATGCGCGCTGCCAT	0.562													5	384					0	0	1	0	0	T	103416202	C	T	103416202	3	4	32	1	0	0	0	0	1	0	0	0	3095	768	27	1	1834	1	CDC42BPB	14	103416202	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	1387590	103416202	3933338	104	24270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000256552.6_Missense_Mutation_p.R1163C|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1141C	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													27	257					0	0	1	0	0	A	31319127	G	A	31319127	3	1	32	1	0	0	0	0	1	0	0	0	16646	1058	37	1	1402	1	TRPM1	15	31319127	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		31319127	71212265	105	24271											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	101					0	0	1	0	0	C	33822869	T	C	33822869	5	2	32	1	0	0	0	0	0	0	1	0	13822	1652	57	3	370	3	RYR3	15	33822869	Splice_Site	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	2503742	33822869	68708523	106	24272											
SRP14	6727	broad.mit.edu	37	chr15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-													gctgttgctgctgcggcaggTgctgctgctgctgctgctgc							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)del	p.A116del	SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-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;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478													11	257	---	---	---	---						-	40328599	TGC	-	40328597	7	5	32	1	0	1	0	1	0	0	0	0	15209	1683	59	0	66	0	SRP14	15	40328597	In_Frame_Del	DEL	TGC	TCGA-IB-A6UG-01A-32D-A33T-08	6505728	40328597	62202795	107	24273											
FAM63B	54629	broad.mit.edu	37	chr15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-													aggaacaggaacaagcagcaGctgctgctgctgctgcttct							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)del	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									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						ACAAGCAGCAGCTGCTGCTGCTG	0.468													7	403	---	---	---	---						-	59144134	GCT	-	59144132	7	5	32	1	0	1	0	1	0	0	0	0	5632	971	34	0	1735	0	FAM63B	15	59144132	In_Frame_Del	DEL	GCT	TCGA-IB-A6UG-01A-32D-A33T-08	18815535	59144132	43387260	108	24274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000435464.1_Missense_Mutation_p.E497K|ISLR2_ENST00000453268.2_Missense_Mutation_p.E497K|ISLR2_ENST00000565540.1_Missense_Mutation_p.E497K|ISLR2_ENST00000445793.1_Missense_Mutation_p.E497K|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.E497K|ISLR2_ENST00000419208.1_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													12	24					0	0	1	0	0	A	74426584	G	A	74426584	3	1	32	1	0	0	0	0	1	0	0	0	7903	1059	37	1	1491	1	ISLR2	15	74426584	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	15282452	74426584	28104808	109	24275											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352105.7_Missense_Mutation_p.E415K|ACAN_ENST00000561243.1_Missense_Mutation_p.E415K|ACAN_ENST00000559004.1_Missense_Mutation_p.E415K|ACAN_ENST00000558207.1_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													11	139					0	0	1	0	0	A	89388927	G	A	89388927	3	1	32	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	14962343	89388927	13142465	110	24276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	119					0	0	1	0	0	T	55361532	C	T	55361532	4	4	32	1	0	0	0	0	0	1	0	0	7892	644	23	1	462	1	IRX6	16	55361532	Nonsense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08		55361532	34993221	111	24277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:58550831C>T	ENST00000394266.4	+	6	640	c.585_splice	c.e6+1	p.A195_splice	SETD6_ENST00000310682.2_Splice_Site_p.A240_splice|SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000219315.4_Splice_Site_p.A264_splice			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													5	437					0	0	1	0	0	T	58550831	C	T	58550831	5	4	32	1	0	0	0	0	0	0	1	0	14189	782	27	1	809	1	SETD6	16	58550831	Splice_Site	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3189299	58550831	31803922	112	24278											
EDC4	23644	broad.mit.edu	37	chr16	67913786	67913788	+	In_Frame_Del	DEL	AGC	AGC	-													ccagcagcagcagcagcggtAgcagcagcagcagcagcagt							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:67913786_67913788delAGC	ENST00000358933.5	+	16	2094_2096	c.1855_1857delAGC	c.(1855-1857)del	p.S629del		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	629	Ser-rich.				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)		cagcagcggtagcagcagcagca	0.616													8	276	---	---	---	---						-	67913788	AGC	-	67913786	7	5	32	1	0	1	0	1	0	0	0	0	4934	420	15	0	1917	0	EDC4	16	67913786	In_Frame_Del	DEL	AGC	TCGA-IB-A6UG-01A-32D-A33T-08	9362955	67913786	22440967	113	24279											
COTL1	23406	broad.mit.edu	37	chr16	84600451	84600451	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtggcgggggctggggTtactccgtctgggcgtcgta	20	8	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:84600451T>G	ENST00000262428.4	-	4	591	c.429A>C	c.(427-429)taA>taC	p.*143Y	COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y|COTL1_ENST00000567278.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	0						cytoplasm|cytoskeleton	actin binding|enzyme binding			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GGGGCTGGGGTTACTCCGTCT	0.622													11	70					0	0	1	0	0	G	84600451	T	G	84600451	4	3	32	1	0	0	0	0	0	0	0	0	3784	1732	60	3	3	3	COTL1	16	84600451	Nonstop_Mutation	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	16686665	84600451	5754302	114	24280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	53					0	0	1	0	0	C	89251637	G	C	89251637	3	2	32	1	0	0	0	0	1	0	0	0	3122	1087	38	5	577	5	CDH15	16	89251637	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	4651186	89251637	1103116	115	24281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000269305.4_Missense_Mutation_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	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)			18	168					0	0	1	0	0	A	7577539	G	A	7577539	3	1	32	1	0	0	0	0	1	0	0	0	16442	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		7577539	73617671	116	24282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000486880.2_Missense_Mutation_p.A215T|TTC19_ENST00000497842.2_3'UTR	NM_017775.3	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													9	76					0	0	1	0	0	A	15903527	G	A	15903527	3	1	32	1	0	0	0	0	1	0	0	0	16748	1203	42	2	649	2	TTC19	17	15903527	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	8325988	15903527	65291683	117	24283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			12	212					0	0	1	0	0	A	21319100	G	A	21319100	3	1	32	1	0	0	0	0	1	0	0	0	8090	1087	38	1	448	1	KCNJ12	17	21319100	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	5415573	21319100	59876110	118	24284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000515765.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S267N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S267N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S267N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S267N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000514181.1_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													4	36					0	0	1	0	0	A	48649968	G	A	48649968	3	1	32	1	0	0	0	0	1	0	0	0	2562	971	34	2	822	2	CACNA1G	17	48649968	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	27330868	48649968	32545242	119	24285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	DSC1_ENST00000257198.5_Silent_p.T357T|RP11-408H20.2_ENST00000581836.1_RNA	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													11	111					0	0	1	0	0	T	28723623	A	T	28723623	2	4	32	1	0	0	0	0	0	0	0	1	4791	59	3	5		5	DSC1	18	28723623	Silent	SNP	A	TCGA-IB-A6UG-01A-32D-A33T-08		28723623	49353625	120	24286											
DSG4	147409	broad.mit.edu	37	chr18	28968349	28968349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gattcgatcagactgcgaatCgaaccagaagataacatacc	8	10	1	3	rs36040686	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:28968349C>T	ENST00000359747.4	+	4	265	c.236C>T	c.(235-237)tCg>tTg	p.S79L	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.S79L|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	79	Cadherin 1.				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)			GACTGCGAATCGAACCAGAAG	0.418													10	110					0	0	1	0	0	T	28968349	C	T	28968349	3	4	32	1	0	0	0	0	1	0	0	0	4805	893	31	1	250	1	DSG4	18	28968349	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	244726	28968349	49108899	121	24287											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535475.1_5'UTR|NOL4_ENST00000538587.1_Silent_p.A76A|NOL4_ENST00000269185.4_Silent_p.A36A|NOL4_ENST00000589544.1_Silent_p.A150A	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													13	208					0	0	1	0	0	T	31685089	C	T	31685089	2	4	32	1	0	0	0	0	0	0	0	1	10571	639	23	1		1	NOL4	18	31685089	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	2716740	31685089	46392159	122	24288											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_005308.1	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													5	429					0	0	1	0	0	A	547338	G	A	547338	2	1	32	1	0	0	0	0	0	0	0	1	6960	1132	40	1		1	GZMM	19	547338	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		547338	58581645	123	24289											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000587024.1_Missense_Mutation_p.A462T|SBNO2_ENST00000438103.2_Missense_Mutation_p.A405T	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													7	35					0	0	1	0	0	T	1119153	C	T	1119153	3	4	32	1	0	0	0	0	1	0	0	0	13916	768	27	1	2792	1	SBNO2	19	1119153	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	571815	1119153	58009830	124	24290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			8	38	---	---	---	---						-	1207204	T	-	1207204	8	5	32	1	0	1	0	1	0	0	1	0	15343	1652	57	0	294	0	STK11	19	1207204	Splice_Site	DEL	T	TCGA-IB-A6UG-01A-32D-A33T-08	88051	1207204	57921779	125	24291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:4033577G>A	ENST00000262971.2	+	9	1256	c.1142_splice	c.e9+1	p.G381_splice		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													7	46					0	0	1	0	0	A	4033577	G	A	4033577	5	1	32	1	0	0	0	0	0	0	1	0	11926	1130	39	1	1175	1	PIAS4	19	4033577	Splice_Site	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	2826373	4033577	55095406	126	24292											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	69					0	0	1	0	0	A	10428271	T	A	10428271	2	1	32	1	0	0	0	0	0	0	0	1	13146	1683	59	5		5	RAVER1	19	10428271	Silent	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	6394694	10428271	48700712	127	24293											
ARMC6	93436	broad.mit.edu	37	chr19	19168369	19168369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtggccaaggccgccctgCgggacctgggttgtcatgtc	15	13	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:19168369C>T	ENST00000535612.1	+	9	1870	c.1438C>T	c.(1438-1440)Cgg>Tgg	p.R480W	ARMC6_ENST00000392336.3_Missense_Mutation_p.R480W|ARMC6_ENST00000546344.1_Missense_Mutation_p.R387W|ARMC6_ENST00000269932.6_Missense_Mutation_p.R455W|ARMC6_ENST00000392335.2_Missense_Mutation_p.R455W	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	480							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)			GGCCGCCCTGCGGGACCTGGG	0.672													4	239					0	0	1	0	0	T	19168369	C	T	19168369	3	4	32	1	0	0	0	0	1	0	0	0	954	759	27	1	1389	1	ARMC6	19	19168369	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	8740098	19168369	39960614	128	24294											
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-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	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													6	849					0	0	1	0	0	A	40902713	G	A	40902713	3	1	32	1	0	0	0	0	1	0	0	0	12691	1086	38	1	2843	1	PRX	19	40902713	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	21734344	40902713	18226270	129	24295											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								8	178					0	0	1	0	0	G	42795450	C	G	42795450	3	3	32	1	0	0	0	0	1	0	0	0	3446	507	18	5	2568	5	CIC	19	42795450	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	1892737	42795450	16333533	130	24296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000445728.3_Silent_p.H357H|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000270617.3_Silent_p.H369H|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Silent_p.H369H			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													14	296					0	0	1	0	0	T	50548807	C	T	50548807	2	4	32	1	0	0	0	0	0	0	0	1	17988	535	19	1		1	ZNF473	19	50548807	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	7753357	50548807	8580176	131	24297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000596931.1_Missense_Mutation_p.E149Q|KLK15_ENST00000598239.1_Missense_Mutation_p.E150Q|KLK15_ENST00000301421.2_Missense_Mutation_p.E150Q|KLK15_ENST00000416184.1_Intron	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													52	181					0	0	1	0	0	G	51330167	C	G	51330167	3	3	32	1	0	0	0	0	1	0	0	0	8446	893	31	5	334	5	KLK15	19	51330167	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	781360	51330167	7798816	132	24298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000599649.1_Missense_Mutation_p.T181M|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.T181M|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.T181M|SIGLEC5_ENST00000429354.3_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													19	41					0	0	1	0	0	A	52132769	G	A	52132769	3	1	32	1	0	0	0	0	1	0	0	0	14366	1145	40	1	1141	1	SIGLEC5	19	52132769	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	802602	52132769	6996214	133	24299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000334564.7_Missense_Mutation_p.A39V|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Intron|ZNF480_ENST00000490272.1_Intron	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													54	428					0	0	1	0	0	T	52817449	C	T	52817449	3	4	32	1	0	0	0	0	1	0	0	0	17992	768	27	1	122	1	ZNF480	19	52817449	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	684680	52817449	6311534	134	24300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000595830.1_Missense_Mutation_p.R658Q|ZNF418_ENST00000425570.3_Missense_Mutation_p.R679Q	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													7	328					0	0	1	0	0	T	58437576	C	T	58437576	3	4	32	1	0	0	0	0	1	0	0	0	17952	884	31	1	61	1	ZNF418	19	58437576	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	5620127	58437576	691407	135	24301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.L242M	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													8	75					3.09899e-07	3.21818e-07	1	1	0	A	19970910	C	A	19970910	3	1	32	1	0	0	0	0	1	0	0	0	13424	796	28	2	2053	2	RIN2	20	19970910	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08		19970910	43054610	136	24302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	48					0	0	1	0	0	T	20349690	C	T	20349690	3	4	32	1	0	0	0	0	1	0	0	0	7815	768	27	1	781	1	INSM1	20	20349690	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	378780	20349690	42675830	137	24303											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001389.3	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													40	164					0	0	1	0	0	A	41648061	G	A	41648061	2	1	32	1	0	0	0	0	0	0	0	1	4794	1074	38	1		1	DSCAM	21	41648061	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		41648061	6481834	138	24304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	115					0	0	1	0	0	T	47423408	C	T	47423408	2	4	32	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	139	24305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	1587					0.000151284	0.000154555	1	1	0	A	16279226	C	A	16279226	3	1	32	1	0	0	0	0	1	0	0	0	12314	797	28	2	668	2	POTEH	22	16279226	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08		16279226	35025340	140	24306											
POTEH	23784	broad.mit.edu	37	chr22	16287774	16287774	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccacgttgctcttgccgcTccccctgcaccaggcgaagc	10	19	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:16287774T>C	ENST00000343518.6	-	1	163	c.112A>G	c.(112-114)Agc>Ggc	p.S38G		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	38										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTCTTGCCGCTCCCCCTGCAC	0.592													13	1894					0	0	1	0	0	C	16287774	T	C	16287774	3	2	32	1	0	0	0	0	1	0	0	0	12314	1551	54	3	1565	3	POTEH	22	16287774	Missense_Mutation	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	8548	16287774	35016792	141	24307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	827					0	0	1	0	0	A	23438122	G	A	23438122	2	1	32	1	0	0	0	0	0	0	0	1	6556	1074	38	1		1	GNAZ	22	23438122	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	7150348	23438122	27866444	142	24308											
SHROOM4	57477	broad.mit.edu	37	chrX	50376908	50376908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatctccaatgacctccaCggactccacagtgagcatgt	7	15	1	2	rs3761506	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chrX:50376908C>T	ENST00000376020.2	-	4	2190	c.2165G>A	c.(2164-2166)cGt>cAt	p.R722H	SHROOM4_ENST00000289292.7_Missense_Mutation_p.R722H|SHROOM4_ENST00000460112.3_Missense_Mutation_p.R606H	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	722			R -> H (in dbSNP:rs3761506).		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)					ATGACCTCCACGGACTCCACA	0.557													22	63					0	0	1	0	0	T	50376908	C	T	50376908	3	4	32	1	0	0	0	0	1	0	0	0	14351	536	19	1	2340	1	SHROOM4	23	50376908	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08		50376908	104893652	143	24309											
GUCY2F	2986	broad.mit.edu	37	chrX	108638655	108638655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggagacattctggagggGcatgctcaggaggaactact	15	8	2	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chrX:108638655G>A	ENST00000218006.2	-	12	2630	c.2339C>T	c.(2338-2340)gCc>gTc	p.A780V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	780	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			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TTCTGGAGGGGCATGCTCAGG	0.458													5	414					0	0	1	0	0	A	108638655	G	A	108638655	3	1	32	1	0	0	0	0	1	0	0	0	6939	1203	42	2	1019	2	GUCY2F	23	108638655	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	58261747	108638655	46631905	144	24310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002074.3	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													8	128					0	0	1	0	0	T	1722012	C	T	1722012	3	4	33	1	0	0	0	0	1	0	0	0	6557	739	26	2	513	2	GNB1	1	1722012	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		1722012	247528609	1	24311											
PHF13	148479	broad.mit.edu	37	chr1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-													agaaagaaaacggacaagctGaagaagaagaagaagaggaa							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:6680069_6680071delGAA	ENST00000377648.4	+	3	730_732	c.348_350delGAA	c.(346-351)ctg>ct	p.LK116del	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	116					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|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;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		cggacaagctgaagaagaagaag	0.576													10	326	---	---	---	---						-	6680071	GAA	-	6680069	7	5	33	1	0	1	0	1	0	0	0	0	11872	1277	45	0	358	0	PHF13	1	6680069	In_Frame_Del	DEL	GAA	TCGA-LB-A7SX-01A-11D-A33T-08	4958057	6680069	242570552	2	24312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	115					0	0	1	0	0	T	17271988	C	T	17271988	3	4	33	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	10591919	17271988	231978633	3	24313											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400259.1_Intron|CDC42_ENST00000421089.2_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													31	149					0	0	1	0	0	T	22416480	C	T	22416480	2	4	33	1	0	0	0	0	0	0	0	1	3093	871	31	1		1	CDC42	1	22416480	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	5144492	22416480	226834141	4	24314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000374352.2_Missense_Mutation_p.H244Y|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000243186.6_Missense_Mutation_p.H260Y|RHCE_ENST00000413854.1_Missense_Mutation_p.H260Y|RHCE_ENST00000349438.4_Missense_Mutation_p.H260Y|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000425135.1_Missense_Mutation_p.H260Y|RHCE_ENST00000294413.7_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													41	405					0	0	1	0	0	A	25717263	G	A	25717263	3	1	33	1	0	0	0	0	1	0	0	0	13375	1290	45	2	499	2	RHCE	1	25717263	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3300783	25717263	223533358	5	24315											
PTPRF	5792	broad.mit.edu	37	chr1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-													gagcaaggcggagaggagcaGcggcggcggcggcggcaggc							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cag>ca	p.QR1173del	PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1173					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)				GAGAGGAGCAGCGGCGGCGGCGG	0.631													12	553	---	---	---	---						-	44071948	GCG	-	44071946	7	5	33	1	0	1	0	1	0	0	0	0	12853	962	34	0	3589	0	PTPRF	1	44071946	In_Frame_Del	DEL	GCG	TCGA-LB-A7SX-01A-11D-A33T-08	18354683	44071946	205178675	6	24316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								10	211					0	0	1	0	0	T	65310517	C	T	65310517	3	4	33	1	0	0	0	0	1	0	0	0	7981	536	19	1	1333	1	JAK1	1	65310517	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	21238571	65310517	183940104	7	24317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:72400859C>G	ENST00000357731.4	-	2	551	c.312G>C	c.(310-312)caG>caC	p.Q104H	NEGR1_ENST00000306821.3_5'UTR|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.Q102H	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	104	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													7	217					0	0	1	0	0	G	72400859	C	G	72400859	3	3	33	1	0	0	0	0	1	0	0	0	10364	912	32	5	776	5	NEGR1	1	72400859	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	7090342	72400859	176849762	8	24318											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													136	238					9.01934e-54	1.03238e-53	1	1	0	T	86313406	G	T	86313406	3	4	33	1	0	0	0	0	1	0	0	0	3706	1000	35	2	1828	2	COL24A1	1	86313406	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	13912547	86313406	162937215	9	24319											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:100701025C>G	ENST00000370132.3	-	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	73	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													53	218					0	0	1	0	0	G	100701025	C	G	100701025	3	3	33	1	0	0	0	0	1	0	0	0	4282	855	30	5	1266	5	DBT	1	100701025	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	14387619	100701025	148549596	10	24320											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	158					0	0	1	0	0	C	112033386	T	C	112033386	5	2	33	1	0	0	0	0	0	0	1	0	328	1594	55	3	714	3	ADORA3	1	112033386	Splice_Site	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	11332361	112033386	137217235	11	24321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:149916371G>A	ENST00000369135.3	-	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	639					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													112	447					0	0	1	0	0	A	149916371	G	A	149916371	2	1	33	1	0	0	0	0	0	0	0	1	11366	1165	41	2		2	OTUD7B	1	149916371	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	37882985	149916371	99334250	12	24322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.E433Q|CLK2_ENST00000361168.5_Missense_Mutation_p.E432Q|CLK2_ENST00000355560.4_Missense_Mutation_p.E431Q			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					97	409					0	0	1	0	0	G	155233761	C	G	155233761	3	3	33	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	5317390	155233761	94016860	13	24323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	260					0.000274275	0.000281386	1	1	0	T	158812091	G	T	158812091	3	4	33	1	0	0	0	0	1	0	0	0	9725	942	33	2	150	2	MNDA	1	158812091	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3578330	158812091	90438530	14	24324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													62	178					2.19297e-23	2.43957e-23	1	1	0	T	180793903	G	T	180793903	4	4	33	1	0	0	0	0	0	1	0	0	17511	1291	45	2	808	2	XPR1	1	180793903	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	21981812	180793903	68456718	15	24325											
HHAT	55733	broad.mit.edu	37	chr1	210637926	210637926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgcctgctctgctcatgCgcctggatggactcactcca	11	15	3	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:210637926C>T	ENST00000367010.1	+	8	1161	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C	HHAT_ENST00000413764.2_Missense_Mutation_p.R312C|HHAT_ENST00000261458.3_Missense_Mutation_p.R312C|HHAT_ENST00000308852.6_Missense_Mutation_p.R267C|HHAT_ENST00000541565.1_Missense_Mutation_p.R175C|HHAT_ENST00000367009.1_Missense_Mutation_p.R2C|HHAT_ENST00000391905.3_Missense_Mutation_p.R312C|HHAT_ENST00000545154.1_Missense_Mutation_p.R313C|HHAT_ENST00000545781.1_Missense_Mutation_p.R249C|HHAT_ENST00000537898.1_Missense_Mutation_p.R247C	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	312					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)		TCTGCTCATGCGCCTGGATGG	0.577													7	476					0	0	1	0	0	T	210637926	C	T	210637926	3	4	33	1	0	0	0	0	1	0	0	0	7130	768	27	1	1058	1	HHAT	1	210637926	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	29844023	210637926	38612695	16	24326											
OR2M7	391196	broad.mit.edu	37	chr1	248487100	248487100	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatgtgggctgaatgcacatGaacaaacctgctccatagta	10	9	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:248487100G>A	ENST00000317965.2	-	1	799	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			GAATGCACATGAACAAACCTG	0.463													20	495					0	0	1	0	0	A	248487100	G	A	248487100	2	1	33	1	0	0	0	0	0	0	0	1	11062	1281	45	2		2	OR2M7	1	248487100	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	37849174	248487100	763521	17	24327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379579.4_Missense_Mutation_p.L167F|SPDYA_ENST00000462832.1_3'UTR	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													8	237					0	0	1	0	0	T	29052132	C	T	29052132	3	4	33	1	0	0	0	0	1	0	0	0	15083	797	28	2	513	2	SPDYA	2	29052132	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		29052132	214147241	18	24328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	192					0	0	1	0	0	A	37365423	G	A	37365423	3	1	33	1	0	0	0	0	1	0	0	0	5023	1059	37	1	1018	1	EIF2AK2	2	37365423	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	8313291	37365423	205833950	19	24329											
OTX1	5013	broad.mit.edu	37	chr2	63283259	63283261	+	In_Frame_Del	DEL	CCA	CCA	-													ccgttgagccagtcctcaggCcaccaccaccaccatcacca							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:63283259_63283261delCCA	ENST00000282549.2	+	5	1149_1151	c.873_875delCCA	c.(871-876)ggc>gg	p.GH291del	OTX1_ENST00000366671.3_In_Frame_Del_p.GH291del	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	291	His-rich.					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)					AGTCCTCAGGccaccaccaccac	0.64													8	358	---	---	---	---						-	63283261	CCA	-	63283259	7	5	33	1	0	1	0	1	0	0	0	0	11367	726	26	0	883	0	OTX1	2	63283259	In_Frame_Del	DEL	CCA	TCGA-LB-A7SX-01A-11D-A33T-08	25917836	63283259	179916114	20	24330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	425					0	0	1	0	0	G	73451115	T	G	73451115	3	3	33	1	0	0	0	0	1	0	0	0	14879	1809	63	3	962	3	SMYD5	2	73451115	Missense_Mutation	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	10167856	73451115	169748258	21	24331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:99169316G>A	ENST00000074304.5	+	15	1639	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	INPP4A_ENST00000409851.3_Missense_Mutation_p.A411T|INPP4A_ENST00000409540.3_Missense_Mutation_p.A416T|INPP4A_ENST00000545415.1_Missense_Mutation_p.A416T|INPP4A_ENST00000409016.3_Missense_Mutation_p.A416T|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000523221.1_Missense_Mutation_p.A416T	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	416					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													8	94					0	0	1	0	0	A	99169316	G	A	99169316	3	1	33	1	0	0	0	0	1	0	0	0	7796	1087	38	1	1296	1	INPP4A	2	99169316	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	25718201	99169316	144030057	22	24332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:100623429G>T	ENST00000317233.4	-	6	773	c.538C>A	c.(538-540)Cag>Aag	p.Q180K	AFF3_ENST00000409579.1_Missense_Mutation_p.Q205K|AFF3_ENST00000409236.1_Missense_Mutation_p.Q180K|AFF3_ENST00000356421.2_Missense_Mutation_p.Q205K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	180					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													16	265					6.31663e-08	6.7818e-08	1	1	0	T	100623429	G	T	100623429	3	4	33	1	0	0	0	0	1	0	0	0	357	1328	46	2	3218	2	AFF3	2	100623429	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1454113	100623429	142575944	23	24333											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													147	403					0	0	1	0	0	A	109367778	G	A	109367778	4	1	33	1	0	0	0	0	0	1	0	0	13080	1183	41	2	1370	2	RANBP2	2	109367778	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	8744349	109367778	133831595	24	24334											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409213.1_Missense_Mutation_p.Q110K|NCKAP5_ENST00000405974.3_Missense_Mutation_p.Q110K|NCKAP5_ENST00000317721.6_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													16	34					1.5739e-10	1.71642e-10	1	1	0	T	133887563	G	T	133887563	3	4	33	1	0	0	0	0	1	0	0	0	10270	1328	46	2	5461	2	NCKAP5	2	133887563	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	24519785	133887563	109311810	25	24335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													60	171					0	0	1	0	0	T	163144827	C	T	163144827	3	4	33	1	0	0	0	0	1	0	0	0	7564	922	32	2	2212	2	IFIH1	2	163144827	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	29257264	163144827	80054546	26	24336											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000081.1	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													9	244					0	0	1	0	0	A	189868505	G	A	189868505	3	1	33	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	27	24337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000351153.1_Intron|PARD3B_ENST00000349953.3_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													47	123					0	0	1	0	0	A	206166502	G	A	206166502	5	1	33	1	0	0	0	0	0	0	1	0	11491	957	33	2		2	PARD3B	2	206166502	Splice_Site	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	16297997	206166502	37032871	28	24338											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000258362.3_Silent_p.Y69Y|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000436005.2_Silent_p.Y33Y	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													5	132					0	0	1	0	0	T	219204548	C	T	219204548	2	4	33	1	0	0	0	0	0	0	0	1	12194	518	18	2		2	PNKD	2	219204548	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	13038046	219204548	23994825	29	24339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:232104753C>T	ENST00000349938.4	+	9	1072	c.879_splice	c.e9+1	p.T293_splice	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	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													41	45					0	0	1	0	0	T	232104753	C	T	232104753	5	4	33	1	0	0	0	0	0	0	1	0	957	550	19	1	908	1	ARMC9	2	232104753	Splice_Site	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	12900205	232104753	11094620	30	24340											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	250					0	0	1	0	0	A	235949825	G	A	235949825	3	1	33	1	0	0	0	0	1	0	0	0	14300	1175	41	2	418	2	SH3BP4	2	235949825	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3845072	235949825	7249548	31	24341											
FBXL2	25827	broad.mit.edu	37	chr3	33425651	33425651	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagcgcctcgagctgtaCgactgccagcaggttacccg	13	14	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:33425651C>T	ENST00000484457.1	+	14	1213	c.1122C>T	c.(1120-1122)taC>taT	p.Y374Y	FBXL2_ENST00000507198.1_Silent_p.Y306Y|FBXL2_ENST00000542085.1_Silent_p.Y84Y|FBXL2_ENST00000538892.1_Silent_p.Y306Y|FBXL2_ENST00000538181.1_Silent_p.Y290Y|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_Silent_p.Y115Y	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	374					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						TCGAGCTGTACGACTGCCAGC	0.582													4	174					0	0	1	0	0	T	33425651	C	T	33425651	2	4	33	1	0	0	0	0	0	0	0	1	5749	547	19	1		1	FBXL2	3	33425651	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		33425651	164596779	32	24342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396183.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A	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				78	74					0	0	1	0	0	G	41266124	A	G	41266124	3	3	33	1	0	0	0	0	1	0	0	0	4040	391	14	3	127	3	CTNNB1	3	41266124	Missense_Mutation	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	7840473	41266124	156756306	33	24343											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000441517.2_Missense_Mutation_p.E1009K|SCAP_ENST00000545718.1_Missense_Mutation_p.E872K	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													32	704					0	0	1	0	0	T	47455391	C	T	47455391	3	4	33	1	0	0	0	0	1	0	0	0	13930	835	29	2	50	2	SCAP	3	47455391	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	6189267	47455391	150567039	34	24344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000438817.2_Missense_Mutation_p.E154D|CD96_ENST00000283285.5_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				8	158					0	0	1	0	0	C	111286413	G	C	111286413	3	2	33	1	0	0	0	0	1	0	0	0	3070	933	33	5	472	5	CD96	3	111286413	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	63831022	111286413	86736017	35	24345											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000461057.1_Silent_p.L62L|GPR156_ENST00000315843.3_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													110	246					0	0	1	0	0	A	119962536	G	A	119962536	2	1	33	1	0	0	0	0	0	0	0	1	6701	933	33	2		2	GPR156	3	119962536	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	8676123	119962536	78059894	36	24346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000497029.1_Missense_Mutation_p.I426T|STXBP5L_ENST00000471454.1_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													4	161					0	0	1	0	0	C	120957910	T	C	120957910	3	2	33	1	0	0	0	0	1	0	0	0	15413	1493	52	3	1323	3	STXBP5L	3	120957910	Missense_Mutation	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	995374	120957910	77064520	37	24347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491190.1_Silent_p.F732F|ADCY5_ENST00000309879.5_Silent_p.F724F	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													57	250					0	0	1	0	0	A	123010065	G	A	123010065	2	1	33	1	0	0	0	0	0	0	0	1	296	1049	37	1		1	ADCY5	3	123010065	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2052155	123010065	75012365	38	24348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000491190.1_Missense_Mutation_p.H513Y|ADCY5_ENST00000309879.5_Missense_Mutation_p.H530Y	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													6	212					0	0	1	0	0	A	123021988	G	A	123021988	3	1	33	1	0	0	0	0	1	0	0	0	296	1290	45	2	1179	2	ADCY5	3	123021988	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	11923	123021988	75000442	39	24349											
UROC1	131669	broad.mit.edu	37	chr3	126220105	126220106	+	Frame_Shift_Ins	INS	-	-	T													aaccaaggctgagcacctccINSttttttttccttgcttccct							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:126220105_126220106insT	ENST00000290868.2	-	10	973_974	c.920_921insA	c.(919-921)agafs	p.R307fs	UROC1_ENST00000383579.3_Frame_Shift_Ins_p.R367fs	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	307					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)		TGAGCACCTCCTTTTTTTTCCT	0.584													13	871	---	---	---	---						T	126220106	-	T	126220105	7	5	33	1	0	1	1	0	0	0	0	0	17088	680	24	0	1153	0	UROC1	3	126220105	Frame_Shift_Ins	INS	-	TCGA-LB-A7SX-01A-11D-A33T-08	3198117	126220105	71802325	40	24350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392981.2_Splice_Site|XRN1_ENST00000463916.1_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													33	134					0	0	1	0	0	T	142142485	C	T	142142485	5	4	33	1	0	0	0	0	0	0	1	0	17519	927	32	2	4641	2	XRN1	3	142142485	Splice_Site	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	15922380	142142485	55879945	41	24351											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540509.1_Missense_Mutation_p.L321I|ECT2_ENST00000232458.5_Missense_Mutation_p.L290I|ECT2_ENST00000427830.1_Missense_Mutation_p.L290I|ECT2_ENST00000441497.2_Missense_Mutation_p.L290I|ECT2_ENST00000392692.3_Missense_Mutation_p.L321I	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													72	132					1.88935e-48	2.14488e-48	1	1	0	A	172480552	C	A	172480552	3	1	33	1	0	0	0	0	1	0	0	0	4927	913	32	2	898	2	ECT2	3	172480552	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	30338067	172480552	25541878	42	24352											
ATP13A5	344905	broad.mit.edu	37	chr3	193042744	193042744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcagctggccatggccGcacacagtgggctccatggc	15	13	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:193042744G>A	ENST00000342358.4	-	14	1700	c.1583C>T	c.(1582-1584)gCg>gTg	p.A528V		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	528					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)		GGCCATGGCCGCACACAGTGG	0.532													7	513					0	0	1	0	0	A	193042744	G	A	193042744	3	1	33	1	0	0	0	0	1	0	0	0	1126	1087	38	1	2139	1	ATP13A5	3	193042744	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	20562192	193042744	4979686	43	24353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	78					0	0	1	0	0	C	196304578	T	C	196304578	2	2	33	1	0	0	0	0	0	0	0	1	5787	1693	59	3		3	FBXO45	3	196304578	Silent	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	3261834	196304578	1717852	44	24354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000282924.5_Silent_p.D192D|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409831.1_Silent_p.D192D|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_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													23	43					0	0	1	0	0	A	6107248	G	A	6107248	2	1	33	1	0	0	0	0	0	0	0	1	7984	1136	40	1		1	JAKMIP1	4	6107248	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		6107248	185047028	45	24355											
SLC34A2	10568	broad.mit.edu	37	chr4	25678148	25678150	+	In_Frame_Del	DEL	GCT	GCT	-													caccggctgcttccagatgcGctgctgctgctgctgccgcg							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:25678148_25678150delGCT	ENST00000382051.3	+	13	1900_1902	c.1850_1852delGCT	c.(1849-1854)cgc>c	p.RC617del	SLC34A2_ENST00000503434.1_In_Frame_Del_p.RC616del|SLC34A2_ENST00000504570.1_In_Frame_Del_p.RC616del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	617	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)				TTCCAGATGCgctgctgctgctg	0.64			T	ROS1	NSCLC								7	247	---	---	---	---						-	25678150	GCT	-	25678148	7	5	33	1	0	1	0	1	0	0	0	0	14623	1087	38	0	1896	0	SLC34A2	4	25678148	In_Frame_Del	DEL	GCT	TCGA-LB-A7SX-01A-11D-A33T-08	19570900	25678148	165476128	46	24356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	245					0	0	1	0	0	C	30724130	G	C	30724130	3	2	33	1	0	0	0	0	1	0	0	0	11563	933	33	5	1088	5	PCDH7	4	30724130	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	5045982	30724130	160430146	47	24357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	754					0	0	1	0	0	T	73205309	C	T	73205309	3	4	33	1	0	0	0	0	1	0	0	0	266	884	31	1	2926	1	ADAMTS3	4	73205309	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	42481179	73205309	117948967	48	24358											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	310					0	0	1	0	0	C	104640521	G	C	104640521	2	2	33	1	0	0	0	0	0	0	0	1	15564	1277	45	5		5	TACR3	4	104640521	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	31435212	104640521	86513755	49	24359											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	250					0	0	1	0	0	T	108641321	C	T	108641321	2	4	33	1	0	0	0	0	0	0	0	1	11481	842	30	2		2	PAPSS1	4	108641321	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	4000800	108641321	82512955	50	24360											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000403312.1_Missense_Mutation_p.A226T|HADH_ENST00000309522.3_Missense_Mutation_p.A167T|HADH_ENST00000454409.2_Missense_Mutation_p.A171T			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													185	355					0	0	1	0	0	A	108940775	G	A	108940775	3	1	33	1	0	0	0	0	1	0	0	0	6983	1087	38	1	513	1	HADH	4	108940775	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	299454	108940775	82213501	51	24361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	133					0	0	1	0	0	A	146073752	T	A	146073752	2	1	33	1	0	0	0	0	0	0	0	1	11361	1567	55	5		5	OTUD4	4	146073752	Silent	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	37132977	146073752	45080524	52	24362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)tfs	p.Y291fs	FBXW7_ENST00000393956.3_Frame_Shift_Del_p.Y115fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.Y291fs|FBXW7_ENST00000603548.1_Frame_Shift_Del_p.Y291fs|FBXW7_ENST00000296555.5_Frame_Shift_Del_p.Y173fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.Y211fs	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"								52	90	---	---	---	---						-	153253861	AT	-	153253860	7	5	33	1	0	1	0	1	0	0	0	0	5802	224	8	0	1278	0	FBXW7	4	153253860	Frame_Shift_Del	DEL	AT	TCGA-LB-A7SX-01A-11D-A33T-08	7180108	153253860	37900416	53	24363											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000422544.2_Silent_p.L241L|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000541126.1_Silent_p.L78L|PDGFC_ENST00000542208.1_Silent_p.L86L	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													17	476					0	0	1	0	0	A	157689125	G	A	157689125	2	1	33	1	0	0	0	0	0	0	0	1	11706	933	33	2		2	PDGFC	4	157689125	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	4435265	157689125	33465151	54	24364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424784.2_Silent_p.L272L|ZDHHC11_ENST00000503758.2_5'UTR	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													14	674					3.5997e-14	3.95681e-14	1	1	0	T	837564	G	T	837564	2	4	33	1	0	0	0	0	0	0	0	1	17659	1277	45	2		2	ZDHHC11	5	837564	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		837564	180077696	55	24365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	218					3.92893e-35	4.42404e-35	1	1	0	A	5182355	C	A	5182355	3	1	33	1	0	0	0	0	1	0	0	0	260	710	25	2	714	2	ADAMTS16	5	5182355	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	4344791	5182355	175732905	56	24366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	176					0	0	1	0	0	T	44815301	C	T	44815301	2	4	33	1	0	0	0	0	0	0	0	1	9889	564	20	2		2	MRPS30	5	44815301	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	39632946	44815301	136099959	57	24367											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	287					0	0	1	0	0	A	171510042	G	A	171510042	3	1	33	1	0	0	0	0	1	0	0	0	15342	1057	37	1	1210	1	STK10	5	171510042	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	126694741	171510042	9405218	58	24368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													115	115					0	0	1	0	0	T	22290545	C	T	22290545	3	4	33	1	0	0	0	0	1	0	0	0	12580	884	31	1	341	1	PRL	6	22290545	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		22290545	148824522	59	24369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	384					0	0	1	0	0	T	27833264	C	T	27833264	2	4	33	1	0	0	0	0	0	0	0	1	7179	871	31	1		1	HIST1H2AL	6	27833264	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	5542719	27833264	143281803	60	24370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000580511.1_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													219	228					0	0	1	0	0	A	105609437	G	A	105609437	2	1	33	1	0	0	0	0	0	0	0	1	12304	1165	41	2		2	POPDC3	6	105609437	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	77776173	105609437	65505630	61	24371											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000521531.1_Intron|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000352896.5_Missense_Mutation_p.T857I|RP11-351A11.1_ENST00000518570.1_RNA	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													7	84					0	0	1	0	0	A	119285893	G	A	119285893	3	1	33	1	0	0	0	0	1	0	0	0	5542	1029	36	2	357	2	FAM184A	6	119285893	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	13676456	119285893	51829174	62	24372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000355289.4_Missense_Mutation_p.V114M|GRM1_ENST00000361719.2_Missense_Mutation_p.V114M|GRM1_ENST00000492807.2_Missense_Mutation_p.V114M|GRM1_ENST00000282753.1_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													17	107					0	0	1	0	0	A	146350993	G	A	146350993	3	1	33	1	0	0	0	0	1	0	0	0	6837	1145	40	1	342	1	GRM1	6	146350993	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	27065100	146350993	24764074	63	24373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:18788739C>A	ENST00000406451.3	+	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|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	671	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													22	64					1.28384e-07	1.37306e-07	1	1	0	A	18788739	C	A	18788739	3	1	33	1	0	0	0	0	1	0	0	0	7055	565	20	2	2122	2	HDAC9	7	18788739	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		18788739	140349924	64	24374											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				108	201					6.84326e-50	7.80075e-50	1	1	0	T	42018283	G	T	42018283	4	4	33	1	0	0	0	0	0	1	0	0	6481	1294	45	2	3200	2	GLI3	7	42018283	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	23229544	42018283	117120380	65	24375											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:99755385T>A	ENST00000316937.3	-	3	693	c.507_splice	c.e3-1	p.I170_splice	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)	112	416					0	0	1	0	0	A	99755385	T	A	99755385	5	1	33	1	0	0	0	0	0	0	1	0	2409	1449	50	5	1270	5	C7orf43	7	99755385	Splice_Site	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	57737102	99755385	59383278	66	24376											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	247					0	0	1	0	0	A	105182892	G	A	105182892	3	1	33	1	0	0	0	0	1	0	0	0	13428	1058	37	1	325	1	RINT1	7	105182892	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	5427507	105182892	53955771	67	24377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	169					1.77791e-30	1.99385e-30	1	1	0	T	143002066	G	T	143002066	3	4	33	1	0	0	0	0	1	0	0	0	2689	1319	46	2	1303	2	CASP2	7	143002066	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	37819174	143002066	16136597	68	24378											
XRCC2	7516	broad.mit.edu	37	chr7	152346220	152346220	+	Frame_Shift_Del	DEL	A	A	-													tgctactactgcagtacaccAaaaaaaatcttcccaggcag							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:152346220delA	ENST00000359321.1	-	3	435	c.350delT	c.(349-351)tgfs	p.L117fs	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	117					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	p.V118fs*5(1)		NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GCAGTACACCAAAAAAAATCT	0.393								Homologous recombination					7	369	---	---	---	---						-	152346220	A	-	152346220	7	5	33	1	0	1	0	1	0	0	0	0	17513	131	5	0	496	0	XRCC2	7	152346220	Frame_Shift_Del	DEL	A	TCGA-LB-A7SX-01A-11D-A33T-08	9344154	152346220	6792443	69	24379											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC093726.4_ENST00000543018.1_Missense_Mutation_p.S15L|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_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													15	205					0	0	1	0	0	A	154862970	G	A	154862970	3	1	33	1	0	0	0	0	1	0	0	0	7494	1058	37	1	363	1	HTR5A	7	154862970	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2516750	154862970	4275693	70	24380											
UNC5D	137970	broad.mit.edu	37	chr8	35608248	35608248	+	Frame_Shift_Del	DEL	T	T	-													gaagcaactgaaggtggcggTttttggctgcatgtcctgta							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:35608248delT	ENST00000287272.2	+	12	1897	c.1877delT	c.(1876-1878)gtfs	p.V626fs	UNC5D_ENST00000420357.1_Frame_Shift_Del_p.V628fs|UNC5D_ENST00000416672.1_Frame_Shift_Del_p.V700fs|UNC5D_ENST00000449677.1_Frame_Shift_Del_p.V271fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.V690fs|UNC5D_ENST00000404895.2_Frame_Shift_Del_p.V695fs			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	695	ZU5.				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)		AAGGTGGCGGTTTTTGGCTGC	0.488													7	588	---	---	---	---						-	35608248	T	-	35608248	7	5	33	1	0	1	0	1	0	0	0	0	17055	1725	60	0	2134	0	UNC5D	8	35608248	Frame_Shift_Del	DEL	T	TCGA-LB-A7SX-01A-11D-A33T-08		35608248	110755774	71	24381											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					21	71					0	0	1	0	0	C	48691183	A	C	48691183	3	2	33	1	0	0	0	0	1	0	0	0	12573	246	9	3	712	3	PRKDC	8	48691183	Missense_Mutation	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	13082935	48691183	97672839	72	24382											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000521002.1_Intron|EFCAB1_ENST00000262103.3_Missense_Mutation_p.R98L|EFCAB1_ENST00000523092.1_Missense_Mutation_p.R46L	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													14	94					4.3838e-07	4.67043e-07	1	1	0	A	49643125	C	A	49643125	3	1	33	1	0	0	0	0	1	0	0	0	4959	884	31	4	358	4	EFCAB1	8	49643125	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	951942	49643125	96720897	73	24383											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	291					2.17888e-05	2.26898e-05	1	1	0	A	88885210	C	A	88885210	2	1	33	1	0	0	0	0	0	0	0	1	4296	639	23	4		4	DCAF4L2	8	88885210	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	39242085	88885210	57478812	74	24384											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	461					0	0	1	0	0	T	95538657	C	T	95538657	2	4	33	1	0	0	0	0	0	0	0	1	8273	581	21	2		2	KIAA1429	8	95538657	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	6653447	95538657	50825365	75	24385											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	311					0	0	1	0	0	A	101153416	G	A	101153416	4	1	33	1	0	0	0	0	0	1	0	0	5785	1299	45	2	1076	2	FBXO43	8	101153416	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	5614759	101153416	45210606	76	24386											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	259					0	0	1	0	0	G	125463295	T	G	125463295	3	3	33	1	0	0	0	0	1	0	0	0	16625	1609	56	3	129	3	TRMT12	8	125463295	Missense_Mutation	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	24309879	125463295	20900727	77	24387											
CYP11B1	0	broad.mit.edu	37	chr8	143956378	143956380	+	In_Frame_Del	DEL	GCA	GCA	-													cccgggcctgctcacatggtGcagcagcagcagcatctctg							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:143956378_143956380delGCA	ENST00000292427.4	-	8	1423_1425	c.1391_1393delTGC	c.(1390-1395)cac>c	p.LH464del	CYP11B1_ENST00000377675.3_In_Frame_Del_p.LH535del|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	464					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)	CTCACATGGTGCAGCAGCAGCAG	0.68									Familial Hyperaldosteronism type I				7	411	---	---	---	---						-	143956380	GCA	-	143956378	7	5	33	1	0	1	0	1	0	0	0	0	4168	1319	46	0	126	0	CYP11B1	8	143956378	In_Frame_Del	DEL	GCA	TCGA-LB-A7SX-01A-11D-A33T-08	18493083	143956378	2407644	78	24388											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				4	174					0	0	1	0	0	A	143958530	G	A	143958530	2	1	33	1	0	0	0	0	0	0	0	1	4168	933	33	2		2	CYP11B1	8	143958530	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2152	143958530	2405492	79	24389											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													137	506					0	0	1	0	0	C	145066090	G	C	145066090	2	2	33	1	0	0	0	0	0	0	0	1	6826	1103	39	5		5	GRINA	8	145066090	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1107560	145066090	1297932	80	24390											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537002.1_Missense_Mutation_p.V1155I|PTPRD_ENST00000540109.1_Missense_Mutation_p.V1565I|PTPRD_ENST00000355233.5_Missense_Mutation_p.V1159I|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1543I|PTPRD_ENST00000397611.3_Missense_Mutation_p.V1155I|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1552I|PTPRD_ENST00000397617.3_Missense_Mutation_p.V1158I|PTPRD_ENST00000397606.3_Missense_Mutation_p.V1158I|PTPRD_ENST00000486161.1_Missense_Mutation_p.V1158I|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1565I	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)			5	178					0	0	1	0	0	T	8341947	C	T	8341947	3	4	33	1	0	0	0	0	1	0	0	0	12851	536	19	1	1073	1	PTPRD	9	8341947	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		8341947	132871484	81	24391											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	398					0	0	1	0	0	C	107367328	T	C	107367328	3	2	33	1	0	0	0	0	1	0	0	0	10982	1667	58	3	378	3	OR13C2	9	107367328	Missense_Mutation	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	99025381	107367328	33846103	82	24392											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380132.4_Missense_Mutation_p.D317N|GDI2_ENST00000380181.3_Missense_Mutation_p.D268N	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													63	228					0	0	1	0	0	T	5810230	C	T	5810230	3	4	33	1	0	0	0	0	1	0	0	0	6363	826	29	2	416	2	GDI2	10	5810230	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		5810230	129724517	83	24393											
OLAH	55301	broad.mit.edu	37	chr10	15103848	15103848	+	Frame_Shift_Del	DEL	T	T	-													tccaggataaaccatttgcaTtttttggccacaggtatttg					rs138615083		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:15103848delT	ENST00000378217.3	+	5	635	c.448delT	c.(448-450)ttfs	p.F151fs	OLAH_ENST00000378228.3_Frame_Shift_Del_p.F98fs	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	98					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						ACCATTTGCATTTTTTGGCCA	0.368													8	658	---	---	---	---						-	15103848	T	-	15103848	7	5	33	1	0	1	0	1	0	0	0	0	10899	1493	52	0	462	0	OLAH	10	15103848	Frame_Shift_Del	DEL	T	TCGA-LB-A7SX-01A-11D-A33T-08	9293618	15103848	120430899	84	24394											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								13	330					0	0	1	0	0	A	32310006	G	A	32310006	2	1	33	1	0	0	0	0	0	0	0	1	8348	1280	45	2		2	KIF5B	10	32310006	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	17206158	32310006	103224741	85	24395											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	175					0	0	1	0	0	C	50531971	G	C	50531971	3	2	33	1	0	0	0	0	1	0	0	0	1618	942	33	5	1383	5	C10orf71	10	50531971	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	18221965	50531971	85002776	86	24396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395438.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395445.1_Missense_Mutation_p.V136L|PCDH15_ENST00000320301.6_Missense_Mutation_p.V136L|PCDH15_ENST00000395430.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395442.1_Missense_Mutation_p.V136L|PCDH15_ENST00000361849.3_Missense_Mutation_p.V136L|PCDH15_ENST00000395440.1_Missense_Mutation_p.V136L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.V136L|PCDH15_ENST00000437009.1_Missense_Mutation_p.V136L|PCDH15_ENST00000373955.1_Missense_Mutation_p.V136L|PCDH15_ENST00000414778.1_Missense_Mutation_p.V141L|PCDH15_ENST00000395433.1_Missense_Mutation_p.V114L|PCDH15_ENST00000373957.3_Missense_Mutation_p.V114L|PCDH15_ENST00000395446.1_Missense_Mutation_p.V136L	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)			55	125					2.23044e-30	2.49125e-30	1	1	0	A	56128948	C	A	56128948	3	1	33	1	0	0	0	0	1	0	0	0	11558	565	20	2	7221	2	PCDH15	10	56128948	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	5596977	56128948	79405799	87	24397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	325					0	0	1	0	0	C	71164771	G	C	71164771	2	2	33	1	0	0	0	0	0	0	0	1	15563	1045	37	5		5	TACR2	10	71164771	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	15035823	71164771	64369976	88	24398											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	84					0	0	1	0	0	C	71859992	A	C	71859992	3	2	33	1	0	0	0	0	1	0	0	0	6971	69	3	3	739	3	H2AFY2	10	71859992	Missense_Mutation	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	695221	71859992	63674755	89	24399											
ZNF503	84858	broad.mit.edu	37	chr10	77161101	77161106	+	In_Frame_Del	DEL	CCGCCT	CCGCCT	-													tccaggcagggtctgcaccgCcgcctccgcctccgccgccg					rs72126859		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:77161101_77161106delCCGCCT	ENST00000372524.4	-	1	558_563	c.72_77delAGGCGG	c.(70-78)ggc>gg	p.GGG24del	ZNF503_ENST00000535216.1_In_Frame_Del_p.GGG24del	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	24	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GTCTGCAccgccgcctccgcctccgc	0.718													5	10	---	---	---	---						-	77161106	CCGCCT	-	77161101	7	5	33	1	0	1	0	1	0	0	0	0	18008	739	26	0	1871	0	ZNF503	10	77161101	In_Frame_Del	DEL	CCGCCT	TCGA-LB-A7SX-01A-11D-A33T-08	5301109	77161101	58373646	90	24400											
ZMIZ1	57178	broad.mit.edu	37	chr10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-													tccattacatcacagtggggCtcctcctcctcctccttccc							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gct>g	p.AP981del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	981	Pro-rich.				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)			CACAGTGGGGCTCCTCCTCCTCC	0.635													11	711	---	---	---	---						-	81070789	CTC	-	81070787	7	5	33	1	0	1	0	1	0	0	0	0	17754	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-LB-A7SX-01A-11D-A33T-08	3909686	81070787	54463960	91	24401											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:111635301G>A	ENST00000369680.4	-	15	1495	c.1247C>T	c.(1246-1248)tCg>tTg	p.S416L	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.S345L|XPNPEP1_ENST00000322238.8_Intron|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.S459L	NM_020383.3	NP_065116.3	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													6	182					0	0	1	0	0	A	111635301	G	A	111635301	3	1	33	1	0	0	0	0	1	0	0	0	17502	1059	37	1	652	1	XPNPEP1	10	111635301	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	30564514	111635301	23899446	92	24402											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	755					0	0	1	0	0	A	115663395	G	A	115663395	3	1	33	1	0	0	0	0	1	0	0	0	10453	1174	41	2	1638	2	NHLRC2	10	115663395	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	4028094	115663395	19871352	93	24403											
ABLIM1	3983	broad.mit.edu	37	chr10	116331054	116331054	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgggtcaccggggcacttActgctggagaaggtggtttc	16	8	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:116331054A>C	ENST00000369252.4	-	4	795		c.e4+1		ABLIM1_ENST00000533213.2_Splice_Site|ABLIM1_ENST00000277895.5_Splice_Site	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1						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)		CGGGGCACTTACTGCTGGAGA	0.527													45	231					0	0	1	0	0	C	116331054	A	C	116331054	5	2	33	1	0	0	0	0	0	0	1	0	94	405	14	3	1825	3	ABLIM1	10	116331054	Splice_Site	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	667659	116331054	19203693	94	24404											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000368955.3_Missense_Mutation_p.S150L|DMBT1_ENST00000368909.3_Missense_Mutation_p.S150L|DMBT1_ENST00000344338.3_Missense_Mutation_p.S150L|DMBT1_ENST00000359586.6_Missense_Mutation_p.S150L|DMBT1_ENST00000330163.4_Missense_Mutation_p.S150L|DMBT1_ENST00000368956.2_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													31	872					0	0	1	0	0	T	124336080	C	T	124336080	3	4	33	1	0	0	0	0	1	0	0	0	4605	838	29	2	475	2	DMBT1	10	124336080	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	8005026	124336080	11198667	95	24405											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_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													30	207					0	0	1	0	0	A	5344684	G	A	5344684	3	1	33	1	0	0	0	0	1	0	0	0	11137	1174	41	2	98	2	OR51B2	11	5344684	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		5344684	129661832	96	24406											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	60					0	0	1	0	0	T	5799446	C	T	5799446	3	4	33	1	0	0	0	0	1	0	0	0	11178	536	19	1	559	1	OR52N5	11	5799446	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	454762	5799446	129207070	97	24407											
OR10A2	341276	broad.mit.edu	37	chr11	6891253	6891255	+	In_Frame_Del	DEL	TTC	TTC	-													gctgtgccactcagatgtatTtcttcttcttctttggagtg							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:6891253_6891255delTTC	ENST00000307322.4	+	1	330_332	c.268_270delTTC	c.(268-270)del	p.F94del		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGATGTATTTCTTCTTCTTCT	0.517													7	471	---	---	---	---						-	6891255	TTC	-	6891253	7	5	33	1	0	1	0	1	0	0	0	0	10938	1841	64	0	270	0	OR10A2	11	6891253	In_Frame_Del	DEL	TTC	TCGA-LB-A7SX-01A-11D-A33T-08	1091807	6891253	128115263	98	24408											
MICALCL	84953	broad.mit.edu	37	chr11	12316361	12316361	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagctcctcctcctcctccTcctcctcctcctcctcctcc	2	26	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:12316361T>C	ENST00000256186.2	+	3	1674	c.1383T>C	c.(1381-1383)ccT>ccC	p.P461P		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	461	Poly-Pro.				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)		ctcctcctcctcctcctcctc	0.582													5	58					0	0	1	0	0	C	12316361	T	C	12316361	2	2	33	1	0	0	0	0	0	0	0	1	9620	1538	54	3		3	MICALCL	11	12316361	Silent	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	5425108	12316361	122690155	99	24409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	61					0	0	1	0	0	G	14913531	C	G	14913531	3	3	33	1	0	0	0	0	1	0	0	0	4196	855	30	5	1304	5	CYP2R1	11	14913531	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	2597170	14913531	120092985	100	24410											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	104					0	0	1	0	0	A	34182562	G	A	34182562	3	1	33	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	101	24411											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528244.1_Missense_Mutation_p.D192Y|AGBL2_ENST00000357610.3_Missense_Mutation_p.D230Y|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.D230Y	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													6	151					5.9392e-07	6.30329e-07	1	1	0	A	47721004	C	A	47721004	3	1	33	1	0	0	0	0	1	0	0	0	373	913	32	2	2068	2	AGBL2	11	47721004	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	13538442	47721004	87285512	102	24412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	168					0	0	1	0	0	A	58605742	G	A	58605742	4	1	33	1	0	0	0	0	0	1	0	0	6523	1299	45	2	722	2	GLYATL2	11	58605742	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	10884738	58605742	76400774	103	24413											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	51	239					0	0	1	0	0	A	62159721	G	A	62159721	3	1	33	1	0	0	0	0	1	0	0	0	1059	1290	45	2	914	2	ASRGL1	11	62159721	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3553979	62159721	72846795	104	24414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527525.1_Silent_p.G493G|SIPA1_ENST00000534313.1_Silent_p.G493G|SIPA1_ENST00000394227.3_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													7	60					0	0	1	0	0	T	65413984	C	T	65413984	2	4	33	1	0	0	0	0	0	0	0	1	14383	755	27	1		1	SIPA1	11	65413984	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	3254263	65413984	69592532	105	24415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260047.6_Missense_Mutation_p.R147Q|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000531895.1_Missense_Mutation_p.R147Q|ANKRD42_ENST00000393392.2_Missense_Mutation_p.R119Q|ANKRD42_ENST00000526731.1_Missense_Mutation_p.R147Q|ANKRD42_ENST00000528722.1_Missense_Mutation_p.R34Q|ANKRD42_ENST00000533342.1_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													10	416					0	0	1	0	0	A	82921451	G	A	82921451	3	1	33	1	0	0	0	0	1	0	0	0	664	1058	37	1	370	1	ANKRD42	11	82921451	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	17507467	82921451	52085065	106	24416											
CASP1	834	broad.mit.edu	37	chr11	104901070	104901070	+	Frame_Shift_Del	DEL	T	T	-													aacttaccgaagcagtgagaTtttttttcacatctacgctg							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:104901070delT	ENST00000533400.1	-	5	649	c.614delA	c.(613-615)atfs	p.N205fs	CASP1_ENST00000525825.1_Frame_Shift_Del_p.N184fs|CASP1_ENST00000594519.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000593315.1_Frame_Shift_Del_p.N184fs|CASP1_ENST00000446369.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000436863.3_Frame_Shift_Del_p.N205fs|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000528974.1_Frame_Shift_Del_p.N166fs|CASP1_ENST00000527979.1_Frame_Shift_Del_p.N168fs|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000526568.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000598974.1_Frame_Shift_Del_p.N205fs|CASP1_ENST00000393136.4_Frame_Shift_Del_p.N184fs|CASP1_ENST00000534497.1_Frame_Shift_Del_p.N112fs	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	205					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.N205I(1)		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)	AGCAGTGAGATTTTTTTTCAC	0.378													8	413	---	---	---	---						-	104901070	T	-	104901070	7	5	33	1	0	1	0	1	0	0	0	0	2686	1493	52	0	620	0	CASP1	11	104901070	Frame_Shift_Del	DEL	T	TCGA-LB-A7SX-01A-11D-A33T-08	21979619	104901070	30105446	107	24417											
BUD13	84811	broad.mit.edu	37	chr11	116631625	116631625	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccctggactttgtttatgCcgtggagaagaaaggtctga	13	7	1	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:116631625C>T	ENST00000260210.4	-	5	1103	c.1080G>A	c.(1078-1080)cgG>cgA	p.R360R	BUD13_ENST00000375445.3_Silent_p.R226R	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	360										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)		TTTGTTTATGCCGTGGAGAAG	0.483													5	274					0	0	1	0	0	T	116631625	C	T	116631625	2	4	33	1	0	0	0	0	0	0	0	1	1576	726	26	2		2	BUD13	11	116631625	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	11730555	116631625	18374891	108	24418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	314					0	0	1	0	0	T	119206987	C	T	119206987	2	4	33	1	0	0	0	0	0	0	0	1	13538	506	18	2		2	RNF26	11	119206987	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	2575362	119206987	15799529	109	24419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000530002.1_RNA|THY1_ENST00000528522.1_Missense_Mutation_p.A93T|THY1_ENST00000580275.1_Missense_Mutation_p.A76T|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000498979.2_RNA|THY1_ENST00000527590.1_5'UTR	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													12	358					0	0	1	0	0	T	119290857	C	T	119290857	3	4	33	1	0	0	0	0	1	0	0	0	15945	768	27	1	216	1	THY1	11	119290857	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	83870	119290857	15715659	110	24420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													91	345					0	0	1	0	0	A	123625215	G	A	123625215	2	1	33	1	0	0	0	0	0	0	0	1	11259	1306	46	2		2	OR6X1	11	123625215	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	4334358	123625215	11381301	111	24421											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	350					0	0	1	0	0	T	124413456	C	T	124413456	3	4	33	1	0	0	0	0	1	0	0	0	11273	507	18	2	839	2	OR8B12	11	124413456	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	788241	124413456	10593060	112	24422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000524655.1_Missense_Mutation_p.S853L|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S578L|ARHGAP32_ENST00000527272.1_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													64	233					0	0	1	0	0	A	128844270	G	A	128844270	3	1	33	1	0	0	0	0	1	0	0	0	878	1294	45	2	3495	2	ARHGAP32	11	128844270	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	4430814	128844270	6162246	113	24423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000526127.1_Nonsense_Mutation_p.Q93*|BARX2_ENST00000531946.1_Nonsense_Mutation_p.Q116*	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													5	252					0	0	1	0	0	T	129321169	C	T	129321169	4	4	33	1	0	0	0	0	0	1	0	0	1314	827	29	2	726	2	BARX2	11	129321169	Nonsense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	476899	129321169	5685347	114	24424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	367					1.12685e-05	1.17788e-05	1	1	0	T	130332572	G	T	130332572	3	4	33	1	0	0	0	0	1	0	0	0	259	1319	46	2	1453	2	ADAMTS15	11	130332572	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1011403	130332572	4673944	115	24425											
LRP1	4035	broad.mit.edu	37	chr12	57595393	57595393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatggcagtgatgagcccGccaactgcagtgagttgcct	14	10	0	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:57595393G>A	ENST00000243077.3	+	66	10925	c.10459G>A	c.(10459-10461)Gcc>Acc	p.A3487T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3487	LDL-receptor class A 24.				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)	TGATGAGCCCGCCAACTGCAG	0.642													4	192					0	0	1	0	0	A	57595393	G	A	57595393	3	1	33	1	0	0	0	0	1	0	0	0	8996	1087	38	1	10721	1	LRP1	12	57595393	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		57595393	76256502	116	24426											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:57642585G>A	ENST00000332782.2	-	4	537	c.334_splice	c.e4-1	p.L112_splice	STAC3_ENST00000554578.1_Splice_Site_p.L73_splice|STAC3_ENST00000546246.2_Intron	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													322	335					0	0	1	0	0	A	57642585	G	A	57642585	5	1	33	1	0	0	0	0	0	0	1	0	15297	1304	45	2	794	2	STAC3	12	57642585	Splice_Site	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	47192	57642585	76209310	117	24427											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357825.3_Missense_Mutation_p.R1003H|SRGAP1_ENST00000543397.1_Missense_Mutation_p.R963H	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													14	258					0	0	1	0	0	A	64536271	G	A	64536271	3	1	33	1	0	0	0	0	1	0	0	0	15201	1145	40	1	3163	1	SRGAP1	12	64536271	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	6893686	64536271	69315624	118	24428											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								40	53					0	0	1	0	0	G	65471603	C	G	65471603	3	3	33	1	0	0	0	0	1	0	0	0	17426	768	27	5	851	5	WIF1	12	65471603	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	935332	65471603	68380292	119	24429											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	357					0	0	1	0	0	G	25272886	A	G	25272886	3	3	33	1	0	0	0	0	1	0	0	0	1121	159	6	3	1667	3	ATP12A	13	25272886	Missense_Mutation	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08		25272886	89896992	120	24430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:46054424_46054425insG	ENST00000349995.5	+	4	660_661	c.549_splice	c.e4+1	p.L183_splice		NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	183					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													47	140	---	---	---	---						G	46054425	-	G	46054424	8	5	33	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	121	24431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	539					0	0	1	0	0	T	46287490	C	T	46287490	2	4	33	1	0	0	0	0	0	0	0	1	15095	639	23	1		1	SPERT	13	46287490	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	233066	46287490	68882388	122	24432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389798.3_Missense_Mutation_p.R368H|LRCH1_ENST00000389797.3_Missense_Mutation_p.R368H	NM_001164213.1	NP_001157685.1	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													51	178					0	0	1	0	0	A	47266759	G	A	47266759	3	1	33	1	0	0	0	0	1	0	0	0	8977	1087	38	1	1133	1	LRCH1	13	47266759	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	979269	47266759	67903119	123	24433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:53227075G>A	ENST00000310528.7	+	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	NM_006704.3	NP_006695.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	7					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)	51	127					0	0	1	0	0	A	53227075	G	A	53227075	3	1	33	1	0	0	0	0	1	0	0	0	15425	1174	41	2	22	2	SUGT1	13	53227075	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	5960316	53227075	61942803	124	24434											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000328454.5_Missense_Mutation_p.S987R|PCDH9_ENST00000456367.1_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													98	223					0	0	1	0	0	C	67799612	A	C	67799612	3	2	33	1	0	0	0	0	1	0	0	0	11565	40	2	3	768	3	PCDH9	13	67799612	Missense_Mutation	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	14572537	67799612	47370266	125	24435											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	85					0	0	1	0	0	A	70681816	G	A	70681816	4	1	33	1	0	0	0	0	0	1	0	0	8408	1095	38	1	2274	1	KLHL1	13	70681816	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2882204	70681816	44488062	126	24436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359684.2_Missense_Mutation_p.T741I|DACH1_ENST00000354591.4_Missense_Mutation_p.T487I|DACH1_ENST00000313174.7_Missense_Mutation_p.T541I	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													53	155					0	0	1	0	0	A	72049296	G	A	72049296	3	1	33	1	0	0	0	0	1	0	0	0	4244	1377	48	2	68	2	DACH1	13	72049296	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1367480	72049296	43120582	127	24437											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	393					0	0	1	0	0	A	20215850	G	A	20215850	2	1	33	1	0	0	0	0	0	0	0	1	11129	962	34	2		2	OR4Q3	14	20215850	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		20215850	87133690	128	24438											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	134					0	0	1	0	0	T	23945486	C	T	23945486	4	4	33	1	0	0	0	0	0	1	0	0	10440	528	19	1	613	1	NGDN	14	23945486	Nonsense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	3729636	23945486	83404054	129	24439											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	117					0	0	1	0	0	T	24530760	C	T	24530760	3	4	33	1	0	0	0	0	1	0	0	0	9017	759	27	1	2465	1	LRRC16B	14	24530760	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	585274	24530760	82818780	130	24440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	186					0	0	1	0	0	A	52507535	G	A	52507535	2	1	33	1	0	0	0	0	0	0	0	1	10462	933	33	2		2	NID2	14	52507535	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	27976775	52507535	54842005	131	24441											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	267					0	0	1	0	0	G	68275942	C	G	68275942	3	3	33	1	0	0	0	0	1	0	0	0	17726	507	18	5	7437	5	ZFYVE26	14	68275942	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	15768407	68275942	39073598	132	24442											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000347662.4_Silent_p.*544*|TRAF3_ENST00000539721.1_Silent_p.*486*|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													30	66					0	0	1	0	0	A	103372120	G	A	103372120	2	1	33	1	0	0	0	0	0	0	0	1	16500	1285	45	2		2	TRAF3	14	103372120	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	35096178	103372120	3977420	133	24443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	333					0	0	1	0	0	A	49304939	G	A	49304939	3	1	33	1	0	0	0	0	1	0	0	0	14061	1377	48	2	1696	2	SECISBP2L	15	49304939	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		49304939	53226453	134	24444											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543779.2_Missense_Mutation_p.H2165Y|DMXL2_ENST00000449909.3_Missense_Mutation_p.H1529Y|RP11-707P17.1_ENST00000561007.1_RNA	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													6	345					0	0	1	0	0	A	51772810	G	A	51772810	3	1	33	1	0	0	0	0	1	0	0	0	4623	1290	45	2	2700	2	DMXL2	15	51772810	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2467871	51772810	50758582	135	24445											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:66210374G>A	ENST00000395614.1	-	0	2076				MEGF11_ENST00000360698.4_Silent_p.N672N|MEGF11_ENST00000395625.2_Silent_p.N597N|MEGF11_ENST00000409699.2_Silent_p.N672N|MEGF11_ENST00000288745.3_Silent_p.N597N|MEGF11_ENST00000422354.1_Silent_p.N672N			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													35	143					0	0	1	0	0	A	66210374	G	A	66210374	1	1	33	1	0	0	0	0	0	0	0	0	9511	1136	40	1		1	MEGF11	15	66210374	Translation_Start_Site	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	14437564	66210374	36321018	136	24446											
NOX5	79400	broad.mit.edu	37	chr15	69328208	69328210	+	In_Frame_Del	DEL	CTG	CTG	-													cctccccgacaggtgtcgctCtgctgctgctgctcctcctc							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:69328208_69328210delCTG	ENST00000260364.5	+	8	1367_1369	c.1066_1068delCTG	c.(1066-1068)del	p.L362del	NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000388866.3_In_Frame_Del_p.L380del			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	380	Ferric oxidoreductase.				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						AGGTGTCGCTCTGCTGCTGCTGC	0.626													7	652	---	---	---	---						-	69328210	CTG	-	69328208	7	5	33	1	0	1	0	1	0	0	0	0	10606	912	32	0	1179	0	NOX5	15	69328208	In_Frame_Del	DEL	CTG	TCGA-LB-A7SX-01A-11D-A33T-08	3117834	69328208	33203184	137	24447											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	149					0	0	1	0	0	A	74239478	G	A	74239478	3	1	33	1	0	0	0	0	1	0	0	0	8944	1059	37	1	1434	1	LOXL1	15	74239478	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	4911270	74239478	28291914	138	24448											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	535					0	0	1	0	0	T	84652038	C	T	84652038	3	4	33	1	0	0	0	0	1	0	0	0	275	623	22	2	3736	2	ADAMTSL3	15	84652038	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	10412560	84652038	17879354	139	24449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000558306.1_Intron|NTRK3_ENST00000394480.1_Intron|NTRK3_ENST00000540489.2_Silent_p.G565G|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000542733.2_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)			11	27					3.86212e-05	3.99182e-05	1	1	0	A	88524482	C	A	88524482	2	1	33	1	0	0	0	0	0	0	0	1	10756	610	22	2		2	NTRK3	15	88524482	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	3872444	88524482	14006910	140	24450											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	158					0	0	1	0	0	T	476687	C	T	476687	2	4	33	1	0	0	0	0	0	0	0	1	12947	825	29	2		2	RAB11FIP3	16	476687	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		476687	89878066	141	24451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	437					3.5997e-14	3.95681e-14	1	1	0	A	633027	C	A	633027	3	1	33	1	0	0	0	0	1	0	0	0	11944	711	25	2	1776	2	PIGQ	16	633027	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	156340	633027	89721726	142	24452											
NAGPA	51172	broad.mit.edu	37	chr16	5083678	5083679	+	Frame_Shift_Del	DEL	GC	GC	-													cgtgtgcagtcccgggggagGcgcgcgcgcgcgcgtggata							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:5083678_5083679delGC	ENST00000312251.3	-	2	156_157	c.137_138delGC	c.(136-138)cfs	p.R46fs	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'UTR|NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	46					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)	CCCGGGGGAGGCGCGCGCGCGC	0.767													7	151	---	---	---	---						-	5083679	GC	-	5083678	7	5	33	1	0	1	0	1	0	0	0	0	10192	1190	42	0	1445	0	NAGPA	16	5083678	Frame_Shift_Del	DEL	GC	TCGA-LB-A7SX-01A-11D-A33T-08	4450651	5083678	85271075	143	24453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000458008.4_Intron|FAM86A_ENST00000587133.1_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													66	166					0	0	1	0	0	A	5141882	G	A	5141882	2	1	33	1	0	0	0	0	0	0	0	1	5675	1368	48	2		2	FAM86A	16	5141882	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	58204	5141882	85212871	144	24454											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													113	344					0	0	1	0	0	G	17353277	C	G	17353277	3	3	33	1	0	0	0	0	1	0	0	0	17523	835	29	5	2438	5	XYLT1	16	17353277	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	12211395	17353277	73001476	145	24455											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	8	177					0	0	1	0	0	A	19126379	T	A	19126379	3	1	33	1	0	0	0	0	1	0	0	0	7969	1580	55	5	598	5	ITPRIPL2	16	19126379	Missense_Mutation	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	1773102	19126379	71228374	146	24456											
PDILT	204474	broad.mit.edu	37	chr16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-													tggaggtccctttggcttagCcaccaccaccaccacctcct							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gct>g	p.VA565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					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						TTTGGCTTAGCCACCACCACCAC	0.478													12	988	---	---	---	---						-	20370702	CCA	-	20370700	7	5	33	1	0	1	0	1	0	0	0	0	11721	739	26	0	62	0	PDILT	16	20370700	In_Frame_Del	DEL	CCA	TCGA-LB-A7SX-01A-11D-A33T-08	1244321	20370700	69984053	147	24457											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538342.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.R163Q|SH2B1_ENST00000359285.5_Missense_Mutation_p.R163Q|SH2B1_ENST00000322610.8_Missense_Mutation_p.R163Q|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000563674.1_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													132	353					0	0	1	0	0	A	28877903	G	A	28877903	3	1	33	1	0	0	0	0	1	0	0	0	14281	1058	37	1	490	1	SH2B1	16	28877903	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	8507203	28877903	61476850	148	24458											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000440851.2_Intron|CENPT_ENST00000219172.3_Intron|CENPT_ENST00000564817.1_Intron|CENPT_ENST00000562787.1_Intron|CENPT_ENST00000562947.1_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													109	484					0	0	1	0	0	G	67865088	C	G	67865088	3	3	33	1	0	0	0	0	1	0	0	0	3264	609	21	5		5	CENPT	16	67865088	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	38987185	67865088	22489665	149	24459											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377504.4_Missense_Mutation_p.H983Y|CNTNAP4_ENST00000469589.1_3'UTR|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													49	161					0	0	1	0	0	T	76572111	C	T	76572111	3	4	33	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	150	24460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	290					0	0	1	0	0	T	88706381	C	T	88706381	2	4	33	1	0	0	0	0	0	0	0	1	7680	755	27	1		1	IL17C	16	88706381	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	12134270	88706381	1648372	151	24461											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_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)			65	59					0	0	1	0	0	A	7578212	G	A	7578212	4	1	33	1	0	0	0	0	0	1	0	0	16442	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		7578212	73616998	152	24462											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000318227.3_Missense_Mutation_p.T349M|ALOXE3_ENST00000448843.2_Missense_Mutation_p.T217M			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													11	202					0	0	1	0	0	A	8017832	G	A	8017832	3	1	33	1	0	0	0	0	1	0	0	0	538	1145	40	1	1529	1	ALOXE3	17	8017832	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	439620	8017832	73177378	153	24463											
GIT1	28964	broad.mit.edu	37	chr17	27903281	27903281	+	Frame_Shift_Del	DEL	G	G	-													gcgtagtgagctcgtccccaGgggggcccccaaagggcttc							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:27903281delG	ENST00000225394.3	-	14	1816	c.1568delC	c.(1567-1569)ctfs	p.P523fs	RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Frame_Shift_Del_p.P532fs|GIT1_ENST00000581348.1_Frame_Shift_Del_p.P532fs|GIT1_ENST00000579937.1_Frame_Shift_Del_p.P523fs	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	523					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)		CTCGTCCCCAGGGGGGCCCCC	0.652													7	613	---	---	---	---						-	27903281	G	-	27903281	7	5	33	1	0	1	0	1	0	0	0	0	6438	1000	35	0	745	0	GIT1	17	27903281	Frame_Shift_Del	DEL	G	TCGA-LB-A7SX-01A-11D-A33T-08	19885449	27903281	53291929	154	24464											
GAS2L2	246176	broad.mit.edu	37	chr17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-													gctctttctcctcctttcctTcctcctcctcctcacctact							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaa>ga	p.EE840del	GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					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)		ctcctttccttcctcctcctcct	0.616													7	307	---	---	---	---						-	34071996	TCC	-	34071994	7	5	33	1	0	1	0	1	0	0	0	0	6287	1783	62	0	124	0	GAS2L2	17	34071994	In_Frame_Del	DEL	TCC	TCGA-LB-A7SX-01A-11D-A33T-08	6168713	34071994	47123216	155	24465											
CCL4L2	388372	broad.mit.edu	37	chr17	34641448	34641448	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctgctccttgttctacAgattccaaaccaaaagaggc	7	12	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:34641448A>G	ENST00000394465.2	+	3	508		c.e3-1		TBC1D3H_ENST00000400684.4_Intron|CCL4L2_ENST00000482104.1_3'UTR|CCL4L2_ENST00000339270.6_Splice_Site|TBC1D3H_ENST00000535446.1_Intron|TBC1D3C_ENST00000451448.2_Intron|TBC1D3C_ENST00000308078.7_Intron			Q8NHW4	CC4L_HUMAN	chemokine (C-C motif) ligand 4-like 2						chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity	p.?(1)		endometrium(1)	1		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTGTTCTACAGATTCCAAAC	0.522													7	693					0	0	1	0	0	G	34641448	A	G	34641448	5	3	33	1	0	0	0	0	0	0	1	0	2926	202	7	3	491	3	CCL4L2	17	34641448	Splice_Site	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	569454	34641448	46553762	156	24466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	153					0	0	1	0	0	T	36940505	C	T	36940505	2	4	33	1	0	0	0	0	0	0	0	1	11985	680	24	2		2	PIP4K2B	17	36940505	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	2299057	36940505	44254705	157	24467											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			26	849					0	0	1	0	0	A	37571341	G	A	37571341	2	1	33	1	0	0	0	0	0	0	0	1	9475	929	33	2		2	MED1	17	37571341	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	630836	37571341	43623869	158	24468											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	226					0	0	1	0	0	A	40997985	G	A	40997985	3	1	33	1	0	0	0	0	1	0	0	0	723	1348	47	2	1344	2	AOC2	17	40997985	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3426644	40997985	40197225	159	24469											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000540035.1_Nonsense_Mutation_p.E428*|CLUL1_ENST00000338387.7_Nonsense_Mutation_p.E376*|CLUL1_ENST00000579494.1_Nonsense_Mutation_p.E376*|CLUL1_ENST00000400606.2_Nonsense_Mutation_p.E376*|C18orf56_ENST00000585033.1_Intron			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													6	345					0.0293803	0.029702	1	1	0	T	641458	G	T	641458	4	4	33	1	0	0	0	0	0	1	0	0	3593	1175	41	2	1148	2	CLUL1	18	641458	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		641458	77435790	160	24470											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	436					0	0	1	0	0	T	19996570	C	T	19996570	3	4	33	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	161	24471											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								8	205					1.12685e-05	1.17788e-05	1	1	0	T	22804704	G	T	22804704	3	4	33	1	0	0	0	0	1	0	0	0	18022	1319	46	2	777	2	ZNF521	18	22804704	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2808134	22804704	55272544	162	24472											
TJP3	27134	broad.mit.edu	37	chr19	3730073	3730073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggtttccatggagaatgCcacctccgcgtttgccattc	11	13	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:3730073C>T	ENST00000541714.2	+	4	668	c.206C>T	c.(205-207)gCc>gTc	p.A69V	TJP3_ENST00000589378.1_Missense_Mutation_p.A78V|TJP3_ENST00000382008.3_Missense_Mutation_p.A69V|TJP3_ENST00000262968.9_Missense_Mutation_p.A88V|TJP3_ENST00000587686.1_Missense_Mutation_p.A88V|TJP3_ENST00000539908.2_Missense_Mutation_p.A33V	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	69	PDZ 1.					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)		ATGGAGAATGCCACCTCCGCG	0.597													5	330					0	0	1	0	0	T	3730073	C	T	3730073	3	4	33	1	0	0	0	0	1	0	0	0	15991	739	26	2	273	2	TJP3	19	3730073	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		3730073	55398910	163	24473											
PLIN5	440503	broad.mit.edu	37	chr19	4523796	4523796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgctccacaaggatgggcGcgaagggtcccaccagccag	14	14	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:4523796G>A	ENST00000381848.3	-	8	1216	c.1136C>T	c.(1135-1137)gCg>gTg	p.A379V		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	379						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						AAGGATGGGCGCGAAGGGTCC	0.751													4	165					0	0	1	0	0	A	4523796	G	A	4523796	3	1	33	1	0	0	0	0	1	0	0	0	12141	1087	38	1	259	1	PLIN5	19	4523796	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	793723	4523796	54605187	164	24474											
TNFSF9	8744	broad.mit.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-													ccttgggccctggtcgcgggGctgctgctgctgctgctgct							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)ggg>gg	p.GL34del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	34					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						TGGTCGCGGGgctgctgctgctg	0.768													8	253	---	---	---	---						-	6531151	GCT	-	6531149	7	5	33	1	0	1	0	1	0	0	0	0	16372	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-LB-A7SX-01A-11D-A33T-08	2007353	6531149	52597834	165	24475											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	201					0	0	1	0	0	A	9064306	G	A	9064306	3	1	33	1	0	0	0	0	1	0	0	0	10021	1174	41	2	20711	2	MUC16	19	9064306	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2533157	9064306	50064677	166	24476											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.E399K|CD97_ENST00000357355.3_Missense_Mutation_p.E443K	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													161	314					0	0	1	0	0	A	14515219	G	A	14515219	3	1	33	1	0	0	0	0	1	0	0	0	3071	1175	41	2	1524	2	CD97	19	14515219	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	5450913	14515219	44613764	167	24477											
MYO9B	4650	broad.mit.edu	37	chr19	17295729	17295729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatgactctgcacgaccGcaccaccaagtccctactgc	7	18	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:17295729G>A	ENST00000595618.1	+	17	2581	c.2429G>A	c.(2428-2430)cGc>cAc	p.R810H	MYO9B_ENST00000594824.1_Missense_Mutation_p.R810H|MYO9B_ENST00000397274.2_Missense_Mutation_p.R810H	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	810	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	p.R810H(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CTGCACGACCGCACCACCAAG	0.582													5	295					0	0	1	0	0	A	17295729	G	A	17295729	3	1	33	1	0	0	0	0	1	0	0	0	10133	1087	38	1	2491	1	MYO9B	19	17295729	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2780510	17295729	41833254	168	24478											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:33699875G>A	ENST00000253188.3	-	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	498					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													46	108					0	0	1	0	0	A	33699875	G	A	33699875	2	1	33	1	0	0	0	0	0	0	0	1	14748	1136	40	1		1	SLC7A10	19	33699875	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	16404146	33699875	25429108	169	24479											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:35941517C>T	ENST00000599180.1	+	2	981	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.R301C			O15552	FFAR2_HUMAN	free fatty acid receptor 2	301						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													155	326					0	0	1	0	0	T	35941517	C	T	35941517	3	4	33	1	0	0	0	0	1	0	0	0	5861	536	19	1	903	1	FFAR2	19	35941517	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	2241642	35941517	23187466	170	24480											
C19orf55	148137	broad.mit.edu	37	chr19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-													ccctgcagcaaagcctccatCtcctcctcctcctccctcag							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atc>at	p.IS213del	C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	213	Ser-rich.									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)			AAGCCTCCATCTCCTCCTCCTCC	0.631													11	1137	---	---	---	---						-	36255949	CTC	-	36255947	7	5	33	1	0	1	0	1	0	0	0	0	1949	903	32	0	665	0	C19orf55	19	36255947	In_Frame_Del	DEL	CTC	TCGA-LB-A7SX-01A-11D-A33T-08	314430	36255947	22873036	171	24481											
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-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	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													5	245					0	0	1	0	0	A	40433869	G	A	40433869	3	1	33	1	0	0	0	0	1	0	0	0	5811	1086	38	1	15957	1	FCGBP	19	40433869	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	4177922	40433869	18695114	172	24482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	361					0	0	1	0	0	T	40900573	C	T	40900573	3	4	33	1	0	0	0	0	1	0	0	0	12691	884	31	1	703	1	PRX	19	40900573	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	466704	40900573	18228410	173	24483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:43430840G>C	ENST00000446844.3	-	0	827				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TTAAGTTATTGATGGTGATGT	0.463													31	1046					0	0	1	0	0	C	43430840	G	C	43430840	1	2	33	0	1	0	0	0	0	0	0	0	12709	1280	45	5		5	PSG7	19	43430840	RNA	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2530267	43430840	15698143	174	24484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	193					0	0	1	0	0	A	44129317	G	A	44129317	2	1	33	1	0	0	0	0	0	0	0	1	2587	933	33	2		2	CADM4	19	44129317	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	698477	44129317	14999666	175	24485											
GIPR	2696	broad.mit.edu	37	chr19	46172779	46172780	+	Translation_Start_Site	INS	-	-	TGACTACCT													acccttcgccgccctcacgaINStgactacctctccgatcctg							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:46172779_46172780insTGACTACCT	ENST00000590918.1	+	0	100_101				GIPR_ENST00000304207.8_Start_Codon_Ins|GIPR_ENST00000263281.3_Start_Codon_Ins	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor						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)		CGCCCTCACGATGACTACCTCT	0.663													7	21	---	---	---	---						TGACTACCT	46172780	-	TGACTACCT	46172779	6	5	33	1	0	1	1	0	0	0	0	0	6437	333	12	0		0	GIPR	19	46172779	Translation_Start_Site	INS	-	TCGA-LB-A7SX-01A-11D-A33T-08	2043462	46172779	12956204	176	24486											
SHANK1	50944	broad.mit.edu	37	chr19	51219698	51219698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcacctgctgcttggccGtccagatggtggcatcgggg	16	11	0	2	rs143340442		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:51219698G>A	ENST00000293441.1	-	2	311	c.293C>T	c.(292-294)aCg>aTg	p.T98M	SHANK1_ENST00000391814.1_Missense_Mutation_p.T98M|SHANK1_ENST00000359082.3_Missense_Mutation_p.T98M	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	98					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)		CTGCTTGGCCGTCCAGATGGT	0.627													5	270					0	0	1	0	0	A	51219698	G	A	51219698	3	1	33	1	0	0	0	0	1	0	0	0	14319	1145	40	1	6280	1	SHANK1	19	51219698	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	5046919	51219698	7909285	177	24487											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	96					0	0	1	0	0	A	56538857	G	A	56538857	3	1	33	1	0	0	0	0	1	0	0	0	10527	943	33	2	1284	2	NLRP5	19	56538857	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	5319159	56538857	2590126	178	24488											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000594386.1_3'UTR|ZFP28_ENST00000591844.1_Missense_Mutation_p.E94K	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													6	169					0	0	1	0	0	A	57051065	G	A	57051065	3	1	33	1	0	0	0	0	1	0	0	0	17700	1291	45	2	286	2	ZFP28	19	57051065	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	512208	57051065	2077918	179	24489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	187					0	0	1	0	0	T	58490523	C	T	58490523	3	4	33	1	0	0	0	0	1	0	0	0	18089	922	32	2	857	2	ZNF606	19	58490523	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	1439458	58490523	638460	180	24490											
FOXS1	2307	broad.mit.edu	37	chr20	30433095	30433095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcccttgcctggcttgCggtcatcgcggggcaccttg	14	14	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:30433095C>T	ENST00000375978.3	-	1	325	c.251G>A	c.(250-252)cGc>cAc	p.R84H		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	84					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						GCCTGGCTTGCGGTCATCGCG	0.647													5	374					0	0	1	0	0	T	30433095	C	T	30433095	3	4	33	1	0	0	0	0	1	0	0	0	6069	768	27	1	745	1	FOXS1	20	30433095	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		30433095	32592425	181	24491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	112					0	0	1	0	0	G	44828152	C	G	44828152	3	3	33	1	0	0	0	0	1	0	0	0	3129	884	31	5	1173	5	CDH22	20	44828152	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	14395057	44828152	18197368	182	24492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													332	659					0	0	1	0	0	C	47324868	T	C	47324868	3	2	33	1	0	0	0	0	1	0	0	0	12528	1493	52	3	4406	3	PREX1	20	47324868	Missense_Mutation	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	2496716	47324868	15700652	183	24493											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													105	216					0	0	1	0	0	T	52192921	C	T	52192921	2	4	33	1	0	0	0	0	0	0	0	1	17830	912	32	2		2	ZNF217	20	52192921	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	4868053	52192921	10832599	184	24494											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_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													61	113					0	0	1	0	0	A	62626750	G	A	62626750	3	1	33	1	0	0	0	0	1	0	0	0	12626	1174	41	2	708	2	PRPF6	20	62626750	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	10433829	62626750	398770	185	24495											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	1190					0	0	1	0	0	T	11039053	C	T	11039053	1	4	33	0	1	0	0	0	0	0	0	0	1290	841	29	2		2	BAGE2	21	11039053	RNA	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		11039053	37090842	186	24496											
BAGE2	85319	broad.mit.edu	37	chr21	11058340	11058340	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgctgaaaggggtaaaggAgagaaatctctttataaaac	10	5	1	2	rs28617310	by1000genomes	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:11058340A>C	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)		GGGGTAAAGGAGAGAAATCTC	0.363													25	372					0	0	1	0	0	C	11058340	A	C	11058340	1	2	33	0	1	0	0	0	0	0	0	0	1290	319	11	3		3	BAGE2	21	11058340	RNA	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	19287	11058340	37071555	187	24497			1	8		2	2	14	N	T_A	8.734408e-05
BAGE2	85319	broad.mit.edu	37	chr21	11058353	11058353	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaggagagaaatctcttTataaaaccttgaaaaggaat	8	4	1	2	rs79433933	by1000genomes	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:11058353T>C	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)		GAAATCTCTTTATAAAACCTT	0.343													15	268					0	0	1	0	0	C	11058353	T	C	11058353	1	2	33	0	1	0	0	0	0	0	0	0	1290	1769	61	3		3	BAGE2	21	11058353	RNA	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	13	11058353	37071542	188	24498			1	8		2	2	14	N	T_A	8.734408e-05
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002763.2	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													33	174					0	0	1	0	0	A	19666604	G	A	19666604	2	1	33	1	0	0	0	0	0	0	0	1	16306	1103	39	1		1	TMPRSS15	21	19666604	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	8608251	19666604	28463291	189	24499											
APP	351	broad.mit.edu	37	chr21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-													ccacctcttccacagactctGtggtggtggtggtggtggtg							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:27394182_27394184delGTG	ENST00000358918.3	-	6	1036_1038	c.837_839delCAC	c.(835-840)aca>ac	p.TT279del	APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000474136.1_5'UTR	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				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)				CACAGACTCTgtggtggtggtgg	0.522													8	124	---	---	---	---						-	27394184	GTG	-	27394182	7	5	33	1	0	1	0	1	0	0	0	0	812	1377	48	0	1525	0	APP	21	27394182	In_Frame_Del	DEL	GTG	TCGA-LB-A7SX-01A-11D-A33T-08	7727578	27394182	20735713	190	24500											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:41032648G>A	ENST00000380620.3	+	5	754	c.162G>A	c.(160-162)caG>caA	p.Q54Q	B3GALT5_ENST00000398714.2_Silent_p.Q54Q|B3GALT5_ENST00000380618.1_Silent_p.Q54Q|B3GALT5_ENST00000343118.4_Silent_p.Q54Q|AF064860.5_ENST00000416555.1_RNA			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	54					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													61	225					0	0	1	0	0	A	41032648	G	A	41032648	2	1	33	1	0	0	0	0	0	0	0	1	1248	933	33	2		2	B3GALT5	21	41032648	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	13638466	41032648	7097247	191	24501											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	863					0	0	1	0	0	T	47686068	C	T	47686068	2	4	33	1	0	0	0	0	0	0	0	1	9438	813	29	2		2	MCM3AP	21	47686068	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	6653420	47686068	443827	192	24502											
PRMT2	3275	broad.mit.edu	37	chr21	48078697	48078697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcctgtatgcccgggatgCctggctgaaggaggacgggg	17	10	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:48078697C>T	ENST00000397637.1	+	7	1649	c.695C>T	c.(694-696)gCc>gTc	p.A232V	PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000440086.1_Intron|PRMT2_ENST00000458387.2_Intron|PRMT2_ENST00000451211.2_Missense_Mutation_p.A232V|PRMT2_ENST00000355680.3_Missense_Mutation_p.A232V|PRMT2_ENST00000397638.2_Missense_Mutation_p.A232V			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	232	Interaction with ESR1.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		GCCCGGGATGCCTGGCTGAAG	0.567													4	163					0	0	1	0	0	T	48078697	C	T	48078697	3	4	33	1	0	0	0	0	1	0	0	0	12589	739	26	2	717	2	PRMT2	21	48078697	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	392629	48078697	51198	193	24503											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:23237723A>C	ENST00000532223.1	+	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	165	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													8	287					0	0	1	0	0	C	23237723	A	C	23237723	3	2	33	1	0	0	0	0	1	0	0	0	7638	14	1	3	504	3	IGLL5	22	23237723	Missense_Mutation	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08		23237723	28066843	194	24504											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000248933.6_Missense_Mutation_p.G222R|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G222R|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G222R|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G222R|SEZ6L_ENST00000402979.1_5'UTR	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													11	317					0	0	1	0	0	A	26688941	G	A	26688941	3	1	33	1	0	0	0	0	1	0	0	0	14197	1116	39	1	670	1	SEZ6L	22	26688941	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3451218	26688941	24615625	195	24505											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	293					0	0	1	0	0	T	36915498	C	T	36915498	3	4	33	1	0	0	0	0	1	0	0	0	5042	768	27	1	1013	1	EIF3D	22	36915498	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	10226557	36915498	14389068	196	24506											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	223					2.73381e-35	3.09088e-35	1	1	0	T	47087589	G	T	47087589	2	4	33	1	0	0	0	0	0	0	0	1	3289	1335	47	2		2	CERK	22	47087589	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	10172091	47087589	4216977	197	24507											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:50279764C>T	ENST00000216268.4	+	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	818						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													6	137					0	0	1	0	0	T	50279764	C	T	50279764	2	4	33	1	0	0	0	0	0	0	0	1	17579	535	19	1		1	ZBED4	22	50279764	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	3192175	50279764	1024802	198	24508											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	442					0	0	1	0	0	T	22292031	C	T	22292031	3	4	33	1	0	0	0	0	1	0	0	0	18118	893	31	1	925	1	ZNF645	23	22292031	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		22292031	132978529	199	24509											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	300					0	0	1	0	0	A	30260943	G	A	30260943	3	1	33	1	0	0	0	0	1	0	0	0	9228	1290	45	2	693	2	MAGEB4	23	30260943	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	7968912	30260943	125009617	200	24510											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		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						GGAGCCTCCCAATACTGGAGT	0.642													8	659					0	0	1	0	0	G	37028425	A	G	37028425	3	3	33	1	0	0	0	0	1	0	0	0	5607	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	6767482	37028425	118242135	201	24511											
CCNB3	85417	broad.mit.edu	37	chrX	50037965	50037965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacacatgctcttggactgGccaaaaagaataagcggaat	9	9	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:50037965G>A	ENST00000376042.1	+	5	605	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.A103T			Q8WWL7	CCNB3_HUMAN	cyclin B3	103					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)					TCTTGGACTGGCCAAAAAGAA	0.403													5	324					0	0	1	0	0	A	50037965	G	A	50037965	3	1	33	1	0	0	0	0	1	0	0	0	2936	1203	42	2	317	2	CCNB3	23	50037965	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	13009540	50037965	105232595	202	24512											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	251					0	0	1	0	0	G	50377159	A	G	50377159	2	3	33	1	0	0	0	0	0	0	0	1	14351	291	11	3		3	SHROOM4	23	50377159	Silent	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	339194	50377159	104893401	203	24513											
PHF8	23133	broad.mit.edu	37	chrX	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-													tgttcatccagactggcgttCtcctcctcctcctcgctctc							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:54011405_54011407delCTC	ENST00000338154.6	-	18	2887_2889	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831	Ser-rich.				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						GACTGGCGTTCTCCTCCTCCTCC	0.591													10	704	---	---	---	---						-	54011407	CTC	-	54011405	7	5	33	1	0	1	0	1	0	0	0	0	11888	912	32	0	835	0	PHF8	23	54011405	In_Frame_Del	DEL	CTC	TCGA-LB-A7SX-01A-11D-A33T-08	3634246	54011405	101259155	204	24514											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000375041.2_Silent_p.V686V|TRO_ENST00000420798.2_Silent_p.V614V|TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron	NM_001039705.1	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													9	195					0	0	1	0	0	T	54956406	C	T	54956406	2	4	33	1	0	0	0	0	0	0	0	1	16635	813	29	2		2	TRO	23	54956406	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	945001	54956406	100314154	205	24515											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	172					0	0	1	0	0	T	106111641	C	T	106111641	3	4	33	1	0	0	0	0	1	0	0	0	15686	913	32	2	2883	2	TBC1D8B	23	106111641	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	51155235	106111641	49158919	206	24516											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:108780167C>T	ENST00000218004.1	+	2	199	c.95_splice	c.e2-1	p.P33_splice	NXT2_ENST00000372106.1_5'UTR|NXT2_ENST00000372107.1_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													14	101					0	0	1	0	0	T	108780167	C	T	108780167	5	4	33	1	0	0	0	0	0	0	1	0	10843	637	22	2	103	2	NXT2	23	108780167	Splice_Site	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	2668526	108780167	46490393	207	24517											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	288					0	0	1	0	0	G	109697313	A	G	109697313	2	3	33	1	0	0	0	0	0	0	0	1	13326	69	3	3		3	RGAG1	23	109697313	Silent	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	917146	109697313	45573247	208	24518											
PADI6	353238	broad.mit.edu	37	chr1	17721695	17721695	+	RNA	DEL	G	G	-													gagaaaactggctttttcttGtttttttttttttttgtttg					rs35197313		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:17721695delG	ENST00000434762.2	+	0	1545							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)	GCTTTTTCttgtttttttttt	0.483													8	120	---	---	---	---						-	17721695	G	-	17721695	6	5	34	0	1	1	0	1	0	0	0	0	11428	1392	48	0		0	PADI6	1	17721695	RNA	DEL	G	TCGA-OE-A75W-01A-12D-A32N-08		17721695	231528926	1	24519											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	86					0	0	1	0	0	A	22186350	G	A	22186350	2	1	34	1	0	0	0	0	0	0	0	1	7474	1078	38	1		1	HSPG2	1	22186350	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	4464655	22186350	227064271	2	24520											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.A197T|KDM1A_ENST00000356634.3_Missense_Mutation_p.A177T	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													5	257					0	0	1	0	0	A	23376891	G	A	23376891	3	1	34	1	0	0	0	0	1	0	0	0	8166	1087	38	1	603	1	KDM1A	1	23376891	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	1190541	23376891	225873730	3	24521											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)tfs	p.YLN199fs	LUZP1_ENST00000374623.3_Frame_Shift_Del_p.YLN199fs|LUZP1_ENST00000418342.1_Frame_Shift_Del_p.YLN199fs|LUZP1_ENST00000314174.5_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													30	114	---	---	---	---						-	23420159	ATTCAAGT	-	23420152	7	5	34	1	0	1	0	1	0	0	0	0	9131	214	8	0	2635	0	LUZP1	1	23420152	Frame_Shift_Del	DEL	ATTCAAGT	TCGA-OE-A75W-01A-12D-A32N-08	43261	23420152	225830469	4	24522											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000372008.1_Silent_p.L486L|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													105	121					0	0	1	0	0	T	46491369	C	T	46491369	2	4	34	1	0	0	0	0	0	0	0	1	9375	796	28	2		2	MAST2	1	46491369	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	23071217	46491369	202759252	5	24523											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	13					0.184627	0.188021	1	1	0	A	52927392	C	A	52927392	3	1	34	1	0	0	0	0	1	0	0	0	17639	913	32	2	1874	2	ZCCHC11	1	52927392	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	6436023	52927392	196323229	6	24524											
PPIAL4G	644591	broad.mit.edu	37	chr1	143767808	143767808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgcggcccaagggcttgCcgtcgacggtgatgtcaaaa	14	10	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:143767808C>T	ENST00000419275.1	-	1	73	c.41G>A	c.(40-42)gGc>gAc	p.G14D		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	14	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CAAGGGCTTGCCGTCGACGGT	0.493													7	1008					0	0	1	0	0	T	143767808	C	T	143767808	3	4	34	1	0	0	0	0	1	0	0	0	12367	739	26	2	457	2	PPIAL4G	1	143767808	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	90840416	143767808	105482813	7	24525											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Missense_Mutation_p.S165L|RP11-98D18.1_ENST00000457548.1_RNA	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													37	109					0	0	1	0	0	A	151680404	G	A	151680404	3	1	34	1	0	0	0	0	1	0	0	0	3239	1059	37	1	931	1	CELF3	1	151680404	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	7912596	151680404	97570217	8	24526											
CRNN	49860	broad.mit.edu	37	chr1	152382749	152382749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcctgccttgaccgtggGtctcagtccctctgttctgg	12	14	3	1	rs3814301		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:152382749G>A	ENST00000271835.3	-	3	871	c.809C>T	c.(808-810)aCc>aTc	p.T270I	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	270	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)			TTGACCGTGGGTCTCAGTCCC	0.612													7	1258					0	0	1	0	0	A	152382749	G	A	152382749	3	1	34	1	0	0	0	0	1	0	0	0	3915	1261	44	2	682	2	CRNN	1	152382749	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	702345	152382749	96867872	9	24527											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	65					1.08312e-15	1.16288e-15	1	1	0	A	153271680	C	A	153271680	2	1	34	1	0	0	0	0	0	0	0	1	11843	465	17	2		2	PGLYRP3	1	153271680	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	888931	153271680	95978941	10	24528											
PKLR	5313	broad.mit.edu	37	chr1	155261672	155261672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggcagcctgggcagagCgggtgacagcaatgactgct	18	10	0	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:155261672C>T	ENST00000392414.3	-	10	1513	c.1400G>A	c.(1399-1401)cGc>cAc	p.R467H	PKLR_ENST00000342741.4_Missense_Mutation_p.R498H	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	498					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)	CTGGGCAGAGCGGGTGACAGC	0.597													5	365					0	0	1	0	0	T	155261672	C	T	155261672	3	4	34	1	0	0	0	0	1	0	0	0	12024	768	27	1	239	1	PKLR	1	155261672	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	1989992	155261672	93988949	11	24529											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													134	341					1.46079e-55	1.59307e-55	1	1	0	T	159410194	G	T	159410194	3	4	34	1	0	0	0	0	1	0	0	0	10958	1261	44	2	648	2	OR10J1	1	159410194	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	4148522	159410194	89840427	12	24530											
UAP1	6675	broad.mit.edu	37	chr1	162549268	162549268	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctacaaaggagttcttcaCcaagcacaagtactttggtt	7	9	3	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:162549268C>A	ENST00000271469.3	+	4	838	c.536C>A	c.(535-537)aCc>aAc	p.T179N	UAP1_ENST00000367924.1_Missense_Mutation_p.T179N|UAP1_ENST00000367925.1_Missense_Mutation_p.T179N|UAP1_ENST00000367926.4_Missense_Mutation_p.T179N			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	179					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)			GAGTTCTTCACCAAGCACAAG	0.388													4	212					0.00909568	0.00936618	1	1	0	A	162549268	C	A	162549268	3	1	34	1	0	0	0	0	1	0	0	0	16886	507	18	2	546	2	UAP1	1	162549268	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	3139074	162549268	86701353	13	24531											
SCYL3	57147	broad.mit.edu	37	chr1	169823495	169823495	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgggaccatttctgtcctCagttcaggtaatataagaaa	8	7	3	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:169823495C>A	ENST00000367772.4	-	13	2282	c.2085G>T	c.(2083-2085)ctG>ctT	p.L695L	SCYL3_ENST00000367770.1_Silent_p.L695L|SCYL3_ENST00000367771.5_Silent_p.L641L	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	695	Interaction with EZR.				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)					TTTCTGTCCTCAGTTCAGGTA	0.393													5	355					0.014758	0.0150847	1	1	0	A	169823495	C	A	169823495	2	1	34	1	0	0	0	0	0	0	0	1	14003	813	29	2		2	SCYL3	1	169823495	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	7274227	169823495	79427126	14	24532											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360108.3_Missense_Mutation_p.T1300R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T926R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T1251R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T1319R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T1270R|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													9	553					0	0	1	0	0	G	181724500	C	G	181724500	3	3	34	1	0	0	0	0	1	0	0	0	2560	536	19	5	4066	5	CACNA1E	1	181724500	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	11901005	181724500	67526121	15	24533											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	472					0	0	1	0	0	A	182569575	G	A	182569575	3	1	34	1	0	0	0	0	1	0	0	0	13348	1087	38	1	151	1	RGS16	1	182569575	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	845075	182569575	66681046	16	24534											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	199					0	0	1	0	0	A	186120449	G	A	186120449	3	1	34	1	0	0	0	0	1	0	0	0	7261	1145	40	1	15100	1	HMCN1	1	186120449	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3550874	186120449	63130172	17	24535											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000478424.1_3'UTR|ARF1_ENST00000272102.5_Silent_p.L177L|ARF1_ENST00000540651.1_Silent_p.L177L	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													15	195					0	0	1	0	0	T	228285699	C	T	228285699	2	4	34	1	0	0	0	0	0	0	0	1	841	842	30	2		2	ARF1	1	228285699	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	42165250	228285699	20964922	18	24536											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													25	43					0	0	1	0	0	T	1982980	C	T	1982980	3	4	34	1	0	0	0	0	1	0	0	0	10155	826	29	2	3517	2	MYT1L	2	1982980	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		1982980	241216393	19	24537											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L394L	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)			7	190					0	0	1	0	0	A	80529763	G	A	80529763	2	1	34	1	0	0	0	0	0	0	0	1	9084	1045	37	1		1	LRRTM1	2	80529763	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	78546783	80529763	162669610	20	24538											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000240423.4_Missense_Mutation_p.R67Q|NCAPH_ENST00000427946.1_Intron			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													124	428					0	0	1	0	0	A	97007560	G	A	97007560	3	1	34	1	0	0	0	0	1	0	0	0	10256	1116	39	1	206	1	NCAPH	2	97007560	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	16477797	97007560	146191813	21	24539											
LIMS2	55679	broad.mit.edu	37	chr2	128412102	128412102	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatggccttgatgacgcgGccaatgatgaactcacctgg	11	11	2	4			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:128412102G>A	ENST00000409455.1	-	4	875	c.240C>T	c.(238-240)ggC>ggT	p.G80G	LIMS2_ENST00000324938.5_Silent_p.G109G|LIMS2_ENST00000410011.1_Silent_p.G80G|LIMS2_ENST00000355119.4_Silent_p.G85G|LIMS2_ENST00000545738.2_Silent_p.G107G|LIMS2_ENST00000409808.2_Silent_p.G80G			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	85	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)		TGATGACGCGGCCAATGATGA	0.607													6	517					0	0	1	0	0	A	128412102	G	A	128412102	2	1	34	1	0	0	0	0	0	0	0	1	8844	1190	42	2		2	LIMS2	2	128412102	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	31404542	128412102	114787271	22	24540											
POTEE	445582	broad.mit.edu	37	chr2	131976313	131976313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgctgcagggggagcgGcaagagcaaggtgggcgctt	18	11	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:131976313G>A	ENST00000356920.5	+	1	432	c.338G>A	c.(337-339)gGc>gAc	p.G113D	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.G113D|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	113							ATP binding										AGGGGGAGCGGCAAGAGCAAG	0.602													6	466					0	0	1	0	0	A	131976313	G	A	131976313	3	1	34	1	0	0	0	0	1	0	0	0	12311	1203	42	2	340	2	POTEE	2	131976313	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3564211	131976313	111223060	23	24541											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409101.3_Silent_p.P614P|SCN3A_ENST00000283254.7_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													6	203					0	0	1	0	0	T	165997338	C	T	165997338	2	4	34	1	0	0	0	0	0	0	0	1	13972	755	27	1		1	SCN3A	2	165997338	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	34021025	165997338	77202035	24	24542											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000397209.2_Missense_Mutation_p.E364Q|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.E364Q|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.E314Q|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.E392Q|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.E449Q			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													5	405					0	0	1	0	0	C	169716142	G	C	169716142	3	2	34	1	0	0	0	0	1	0	0	0	10593	1175	41	5	1399	5	NOSTRIN	2	169716142	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3718804	169716142	73483231	25	24543											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D29483N|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D22059N|TTN_ENST00000342992.6_Missense_Mutation_p.D28556N|TTN_ENST00000359218.5_Missense_Mutation_p.D22184N|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D22251N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_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													9	539					0	0	1	0	0	T	179412983	C	T	179412983	3	4	34	1	0	0	0	0	1	0	0	0	16797	826	29	2	14705	2	TTN	2	179412983	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	9696841	179412983	63786390	26	24544											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R5047H|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R4120H|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA	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													23	79					0	0	1	0	0	T	179597812	C	T	179597812	3	4	34	1	0	0	0	0	1	0	0	0	16797	768	27	1	88670	1	TTN	2	179597812	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	184829	179597812	63601561	27	24545											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591111.1_Missense_Mutation_p.R1752H|TTN_ENST00000460472.2_Missense_Mutation_p.R1706H|TTN_ENST00000342992.6_Missense_Mutation_p.R1752H|TTN_ENST00000359218.5_Missense_Mutation_p.R1706H|TTN_ENST00000342175.6_Missense_Mutation_p.R1706H|TTN_ENST00000360870.5_Missense_Mutation_p.R1752H	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													75	146					0	0	1	0	0	T	179641336	C	T	179641336	3	4	34	1	0	0	0	0	1	0	0	0	16797	536	19	1	106073	1	TTN	2	179641336	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	43524	179641336	63558037	28	24546											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	251					0	0	1	0	0	T	219029099	C	T	219029099	3	4	34	1	0	0	0	0	1	0	0	0	4113	768	27	1	220	1	CXCR1	2	219029099	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	39387763	219029099	24170274	29	24547											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405002.1_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405523.3_Silent_p.L40L|ANKMY1_ENST00000391987.1_5'UTR|ANKMY1_ENST00000373318.2_Silent_p.L40L|ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000361678.4_Silent_p.L40L|ANKMY1_ENST00000406958.1_Silent_p.L40L|ANKMY1_ENST00000272972.3_Intron|ANKMY1_ENST00000403283.1_Silent_p.L119L			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)	8	474					0	0	1	0	0	T	241496633	C	T	241496633	2	4	34	1	0	0	0	0	0	0	0	1	630	813	29	2		2	ANKMY1	2	241496633	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	22467534	241496633	1702740	30	24548											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	617					0	0	1	0	0	T	12858310	C	T	12858310	3	4	34	1	0	0	0	0	1	0	0	0	2634	643	23	1	1917	1	CAND2	3	12858310	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		12858310	185164120	31	24549											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000455624.2_Missense_Mutation_p.A1899V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A1878V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1931V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A1914V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A1931V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A1914V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A1932V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A1878V|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													18	151					0	0	1	0	0	A	38592068	G	A	38592068	3	1	34	1	0	0	0	0	1	0	0	0	13976	1087	38	1	259	1	SCN5A	3	38592068	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	25733758	38592068	159430362	32	24550											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_009115.2	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													57	379					0	0	1	0	0	T	52523640	C	T	52523640	2	4	34	1	0	0	0	0	0	0	0	1	10479	871	31	1		1	NISCH	3	52523640	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	13931572	52523640	145498790	33	24551											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	148					0	0	1	0	0	A	93783283	G	A	93783283	2	1	34	1	0	0	0	0	0	0	0	1	10727	1277	45	2		2	NSUN3	3	93783283	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	41259643	93783283	104239147	34	24552											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	675					0	0	1	0	0	A	119886046	G	A	119886046	3	1	34	1	0	0	0	0	1	0	0	0	6701	1115	39	1	170	1	GPR156	3	119886046	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	26102763	119886046	78136384	35	24553											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	574					0	0	1	0	0	T	121489398	C	T	121489398	3	4	34	1	0	0	0	0	1	0	0	0	7847	922	32	2	209	2	IQCB1	3	121489398	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	1603352	121489398	76533032	36	24554											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_149038.3	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													7	246					0	0	1	0	0	A	124632520	G	A	124632520	3	1	34	1	0	0	0	0	1	0	0	0	10019	1057	37	1	585	1	MUC13	3	124632520	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3143122	124632520	73389910	37	24555											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354446.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.K570N|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													141	304					1.56689e-57	1.71553e-57	1	1	0	T	134278028	G	T	134278028	3	4	34	1	0	0	0	0	1	0	0	0	3279	933	33	2	1760	2	CEP63	3	134278028	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	9645508	134278028	63744402	38	24556	161	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354446.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.T571I|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													141	311					0	0	1	0	0	T	134278030	C	T	134278030	3	4	34	1	0	0	0	0	1	0	0	0	3279	565	20	2	1762	2	CEP63	3	134278030	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	2	134278030	63744400	39	24557	161	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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	176					0	0	1	0	0	A	137483748	G	A	137483748	3	1	34	1	0	0	0	0	1	0	0	0	14999	1087	38	1	124	1	SOX14	3	137483748	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3205718	137483748	60538682	40	24558											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000453248.2_Missense_Mutation_p.D145N|SLC25A36_ENST00000324194.6_Missense_Mutation_p.D171N	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													67	150					0	0	1	0	0	A	140692616	G	A	140692616	3	1	34	1	0	0	0	0	1	0	0	0	14555	942	33	2	533	2	SLC25A36	3	140692616	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3208868	140692616	57329814	41	24559											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000264674.3_Silent_p.T137T|MECOM_ENST00000392736.3_Silent_p.T73T|MECOM_ENST00000433243.2_Silent_p.T73T|MECOM_ENST00000472280.1_Silent_p.T73T|MECOM_ENST00000460814.1_Silent_p.T73T|MECOM_ENST00000468789.1_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													155	431					0	0	1	0	0	T	168845679	C	T	168845679	2	4	34	1	0	0	0	0	0	0	0	1	9472	871	31	1		1	MECOM	3	168845679	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	28153063	168845679	29176751	42	24560											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	125					0	0	1	0	0	G	954958	A	G	954958	3	3	34	1	0	0	0	0	1	0	0	0	4501	333	12	3	230	3	DGKQ	4	954958	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08		954958	190199318	43	24561											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	95					0	0	1	0	0	A	3445871	G	A	3445871	3	1	34	1	0	0	0	0	1	0	0	0	7127	1203	42	2	599	2	HGFAC	4	3445871	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2490913	3445871	187708405	44	24562											
LYAR	55646	broad.mit.edu	37	chr4	4276167	4276169	+	In_Frame_Del	DEL	CTT	CTT	-													ctggcgctgtccttgcgctgCttcttcttcttgctcctctt							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:4276167_4276169delCTT	ENST00000343470.4	-	7	997_999	c.757_759delAAG	c.(757-759)del	p.K253del	LYAR_ENST00000452476.1_In_Frame_Del_p.K253del	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	253	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)		CCTTGCGCTGCTTCTTCTTCTTG	0.601													7	1569	---	---	---	---						-	4276169	CTT	-	4276167	7	5	34	1	0	1	0	1	0	0	0	0	9149	796	28	0	396	0	LYAR	4	4276167	In_Frame_Del	DEL	CTT	TCGA-OE-A75W-01A-12D-A32N-08	830296	4276167	186878109	45	24563											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000382358.4_Missense_Mutation_p.S218C|FBXL5_ENST00000412094.2_Missense_Mutation_p.S327C	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													4	164					0	0	1	0	0	C	15629518	G	C	15629518	3	2	34	1	0	0	0	0	1	0	0	0	5755	1174	41	5	1064	5	FBXL5	4	15629518	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	11353351	15629518	175524758	46	24564											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	647					5.50884e-06	5.78011e-06	1	1	0	T	79417989	G	T	79417989	3	4	34	1	0	0	0	0	1	0	0	0	6076	1290	45	2	9302	2	FRAS1	4	79417989	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	63788471	79417989	111736287	47	24565											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	620					0.248553	0.252194	1	1	0	T	142150724	G	T	142150724	5	4	34	1	0	0	0	0	0	0	1	0	17905	1014	35	2	309	2	ZNF330	4	142150724	Splice_Site	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	62732735	142150724	49003552	48	24566											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	36					0.000157383	0.000163892	1	1	0	T	154318479	G	T	154318479	4	4	34	1	0	0	0	0	0	1	0	0	9724	943	33	2	482	2	MND1	4	154318479	Nonsense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	12167755	154318479	36835797	49	24567											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FSTL5_ENST00000536695.1_Missense_Mutation_p.F688I|FSTL5_ENST00000427802.2_Missense_Mutation_p.F679I|FSTL5_ENST00000379164.4_Missense_Mutation_p.F688I|RP11-234O6.2_ENST00000508189.1_RNA	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													60	107					0	0	1	0	0	T	162307378	A	T	162307378	3	4	34	1	0	0	0	0	1	0	0	0	6115	43	2	5	482	5	FSTL5	4	162307378	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	7988899	162307378	28846898	50	24568											
PDZD2	23037	broad.mit.edu	37	chr5	32090059	32090061	+	In_Frame_Del	DEL	TCC	TCC	-													tcagcatggcaaaactggcgTcctcctcctcctcccttcaa					rs61744453	by1000genomes	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:32090059_32090061delTCC	ENST00000438447.1	+	20	6893_6895	c.6505_6507delTCC	c.(6505-6507)del	p.S2173del	PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2173	Ser-rich.				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						AAAACTGGCGTCCTCCTCCTCCT	0.527													7	627	---	---	---	---						-	32090061	TCC	-	32090059	7	5	34	1	0	1	0	1	0	0	0	0	11748	1667	58	0	6579	0	PDZD2	5	32090059	In_Frame_Del	DEL	TCC	TCGA-OE-A75W-01A-12D-A32N-08		32090059	148825201	51	24569											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													73	177					0	0	1	0	0	T	38370412	A	T	38370412	3	4	34	1	0	0	0	0	1	0	0	0	4992	72	3	5	582	5	EGFLAM	5	38370412	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	6280353	38370412	142544848	52	24570											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	770					0	0	1	0	0	G	43651892	A	G	43651892	3	3	34	1	0	0	0	0	1	0	0	0	10557	275	10	3	1815	3	NNT	5	43651892	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	5281480	43651892	137263368	53	24571											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	141					0	0	1	0	0	T	63509712	C	T	63509712	4	4	34	1	0	0	0	0	0	1	0	0	13516	760	27	1	569	1	RNF180	5	63509712	Nonsense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	19857820	63509712	117405548	54	24572											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	253					0	0	1	0	0	T	74650437	C	T	74650437	3	4	34	1	0	0	0	0	1	0	0	0	7272	913	32	2	1520	2	HMGCR	5	74650437	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	11140725	74650437	106264823	55	24573											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	141					0	0	1	0	0	T	78586970	C	T	78586970	4	4	34	1	0	0	0	0	0	1	0	0	8001	760	27	1	1389	1	JMY	5	78586970	Nonsense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	3936533	78586970	102328290	56	24574											
THBS4	7060	broad.mit.edu	37	chr5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-													gatggaattggtgacgagtgTgatgatgatgatgacaatga							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgt>tg	p.CD663del	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	663					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)		GTGACGAGTGTGATGATGATGAT	0.562													9	814	---	---	---	---						-	79372776	TGA	-	79372774	7	5	34	1	0	1	0	1	0	0	0	0	15916	1702	59	0	2051	0	THBS4	5	79372774	In_Frame_Del	DEL	TGA	TCGA-OE-A75W-01A-12D-A32N-08	785804	79372774	101542486	57	24575											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000447245.2_Intron|SLC25A46_ENST00000504098.1_Nonsense_Mutation_p.G126*|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000513807.1_Nonsense_Mutation_p.G110*|SLC25A46_ENST00000509442.2_Nonsense_Mutation_p.G181*|SLC25A46_ENST00000509432.1_Nonsense_Mutation_p.G59*	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													5	349					1	1	1	1	0	T	110097039	G	T	110097039	4	4	34	1	0	0	0	0	0	1	0	0	14566	1349	47	2	844	2	SLC25A46	5	110097039	Nonsense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	30724265	110097039	70818221	58	24576											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	170					0	0	1	0	0	T	137518869	C	T	137518869	4	4	34	1	0	0	0	0	0	1	0	0	8328	876	31	1	870	1	KIF20A	5	137518869	Nonsense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	27421830	137518869	43396391	59	24577											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													179	1088					0	0	1	0	0	A	140558339	G	A	140558339	3	1	34	1	0	0	0	0	1	0	0	0	11595	1291	45	2	726	2	PCDHB8	5	140558339	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3039470	140558339	40356921	60	24578											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000530742.1_Missense_Mutation_p.D268H|CLINT1_ENST00000411809.2_Missense_Mutation_p.D286H	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													6	251					0	0	1	0	0	G	157232960	C	G	157232960	3	3	34	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	61	24579											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518802.1_Silent_p.T350T|RNF145_ENST00000521606.2_Silent_p.T337T|RNF145_ENST00000274542.2_Silent_p.T348T|RNF145_ENST00000519865.1_Silent_p.T320T|RNF145_ENST00000520638.1_Silent_p.T334T	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													5	415					0	0	1	0	0	T	158596042	C	T	158596042	2	4	34	1	0	0	0	0	0	0	0	1	13499	755	27	1		1	RNF145	5	158596042	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	1363082	158596042	22319218	62	24580											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404867.3_Missense_Mutation_p.R737Q|SLIT3_ENST00000332966.8_Missense_Mutation_p.R737Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	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													6	405					0	0	1	0	0	T	168175367	C	T	168175367	3	4	34	1	0	0	0	0	1	0	0	0	14795	884	31	1	2429	1	SLIT3	5	168175367	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	9579325	168175367	12739893	63	24581											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	34	94					0	0	1	0	0	A	176831274	G	A	176831274	3	1	34	1	0	0	0	0	1	0	0	0	5367	1348	47	2	930	2	F12	5	176831274	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	8655907	176831274	4083986	64	24582											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	473					0	0	1	0	0	G	178045614	C	G	178045614	3	3	34	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	65	24583											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379933.3_Missense_Mutation_p.E1376K|RREB1_ENST00000334984.6_Intron|RREB1_ENST00000349384.6_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													8	25					0	0	1	0	0	A	7246974	G	A	7246974	3	1	34	1	0	0	0	0	1	0	0	0	13731	1175	41	2	4325	2	RREB1	6	7246974	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		7246974	163868093	66	24584											
RANBP9	10048	broad.mit.edu	37	chr6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgttgctgctgctgcGgcggcggcggcggcggctgc	20	13	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761													4	99					5.9392e-07	6.27923e-07	1	1	0	T	13711709	G	T	13711709	3	4	34	1	0	0	0	0	1	0	0	0	13084	1116	39	4	2216	4	RANBP9	6	13711709	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	6464735	13711709	157403358	67	24585											
HIST1H4E	8367	broad.mit.edu	37	chr6	26204886	26204886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggtcatgtctggtcgcgGcaaaggcggaaagggactgg	18	7	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:26204886G>A	ENST00000360441.4	+	1	29	c.14G>A	c.(13-15)gGc>gAc	p.G5D		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	5					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.G5D(1)		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)				TCTGGTCGCGGCAAAGGCGGA	0.517													5	448					0	0	1	0	0	A	26204886	G	A	26204886	3	1	34	1	0	0	0	0	1	0	0	0	7210	1203	42	2	16	2	HIST1H4E	6	26204886	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	12493177	26204886	144910181	68	24586											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373188.2_Missense_Mutation_p.E247Q|MOCS1_ENST00000432280.2_Missense_Mutation_p.E218Q|MOCS1_ENST00000373175.4_Missense_Mutation_p.E218Q|MOCS1_ENST00000340692.5_Missense_Mutation_p.E247Q|MOCS1_ENST00000373195.3_Missense_Mutation_p.E160Q|MOCS1_ENST00000308559.7_Missense_Mutation_p.E247Q|MOCS1_ENST00000425303.2_Missense_Mutation_p.E247Q	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													58	173					0	0	1	0	0	G	39881079	C	G	39881079	3	3	34	1	0	0	0	0	1	0	0	0	9739	922	32	5	438	5	MOCS1	6	39881079	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	13676193	39881079	131233988	69	24587											
SPACA1	81833	broad.mit.edu	37	chr6	88773873	88773873	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagccctaatttttgtgCtgaccataggagtcattatc	8	9	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:88773873C>T	ENST00000237201.1	+	6	784	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L	SPACA1_ENST00000462690.1_Intron	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	223						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)		AATTTTTGTGCTGACCATAGG	0.363													5	237					0	0	1	0	0	T	88773873	C	T	88773873	2	4	34	1	0	0	0	0	0	0	0	1	15026	796	28	2		2	SPACA1	6	88773873	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	48892794	88773873	82341194	70	24588											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	98					0	0	1	0	0	T	102516276	C	T	102516276	3	4	34	1	0	0	0	0	1	0	0	0	6815	768	27	1	2852	1	GRIK2	6	102516276	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	13742403	102516276	68598791	71	24589											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	142					0	0	1	0	0	G	4089014	A	G	4089014	2	3	34	1	0	0	0	0	0	0	0	1	14022	69	3	3		3	SDK1	7	4089014	Silent	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08		4089014	155049649	72	24590											
RADIL	55698	broad.mit.edu	37	chr7	4839090	4839090	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaccgcatcttcttcccGccatgacggatcaggtccac	9	15	3	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:4839090G>A	ENST00000399583.3	-	15	3334	c.3147C>T	c.(3145-3147)ggC>ggT	p.G1049G	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Silent_p.G809G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	1049	PDZ.				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)		TCTTCTTCCCGCCATGACGGA	0.642													6	397					0	0	1	0	0	A	4839090	G	A	4839090	2	1	34	1	0	0	0	0	0	0	0	1	13049	1074	38	1		1	RADIL	7	4839090	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	750076	4839090	154299573	73	24591											
CCM2	83605	broad.mit.edu	37	chr7	45115489	45115489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagctttggcaggcaccggCgggccctgagcaccacatcc	12	16	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:45115489C>T	ENST00000475551.1	+	10	1910	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W	CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000381112.3_Missense_Mutation_p.R411W|CCM2_ENST00000544363.1_Missense_Mutation_p.R299W|CCM2_ENST00000474617.1_Missense_Mutation_p.R293W|CCM2_ENST00000258781.6_Missense_Mutation_p.R390W|CCM2_ENST00000541586.1_Missense_Mutation_p.R332W			Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	390					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						CAGGCACCGGCGGGCCCTGAG	0.627													5	231					0	0	1	0	0	T	45115489	C	T	45115489	3	4	34	1	0	0	0	0	1	0	0	0	2930	759	27	1	1303	1	CCM2	7	45115489	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	40276399	45115489	114023174	74	24592											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000426377.1_Missense_Mutation_p.R140G|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000380984.4_Missense_Mutation_p.R218G|DDC_ENST00000431062.1_Intron|DDC_ENST00000357936.5_Missense_Mutation_p.R218G	NM_001082971.1	NP_001076440.1	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													98	306					0	0	1	0	0	C	50595897	G	C	50595897	3	2	34	1	0	0	0	0	1	0	0	0	4348	1087	38	5	826	5	DDC	7	50595897	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	5480408	50595897	108542766	75	24593											
GPC2	221914	broad.mit.edu	37	chr7	99771554	99771554	+	Frame_Shift_Del	DEL	C	C	-													gcagggcataagtgaggggaCcccccggcacaggggacagc							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:99771554delC	ENST00000292377.2	-	5	963	c.796delG	c.(796-798)tcfs	p.V266fs	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	266						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTGAGGGGACCCCCCGGCAC	0.642													7	882	---	---	---	---						-	99771554	C	-	99771554	7	5	34	1	0	1	0	1	0	0	0	0	6638	507	18	0	967	0	GPC2	7	99771554	Frame_Shift_Del	DEL	C	TCGA-OE-A75W-01A-12D-A32N-08	49175657	99771554	59367109	76	24594											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.S395F|GRM8_ENST00000444921.2_Missense_Mutation_p.S395F|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)			33	72					0	0	1	0	0	A	126410092	G	A	126410092	3	1	34	1	0	0	0	0	1	0	0	0	6844	942	33	2	1612	2	GRM8	7	126410092	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	26638538	126410092	32728571	77	24595											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	48					0	0	1	0	0	C	149523658	G	C	149523658	1	2	34	0	1	0	0	0	0	0	0	0	15245	1349	47	5		5	SSPO	7	149523658	RNA	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	23113566	149523658	9615005	78	24596											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	420					0	0	1	0	0	A	155604784	G	A	155604784	2	1	34	1	0	0	0	0	0	0	0	1	14334	1161	41	2		2	SHH	7	155604784	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	6081126	155604784	3533879	79	24597											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000389418.4_Missense_Mutation_p.T451M|PTPRN2_ENST00000404321.2_Missense_Mutation_p.T474M|PTPRN2_ENST00000409483.1_Missense_Mutation_p.T413M|PTPRN2_ENST00000389416.4_Missense_Mutation_p.T434M	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													7	506					0	0	1	0	0	A	157926573	G	A	157926573	3	1	34	1	0	0	0	0	1	0	0	0	12860	1145	40	1	1755	1	PTPRN2	7	157926573	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2321789	157926573	1212090	80	24598											
KCNQ3	3786	broad.mit.edu	37	chr8	133196511	133196511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgcacaggggcttcctgGcaaacttcagtcggccccgc	11	15	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:133196511G>A	ENST00000388996.4	-	3	1001	c.581C>T	c.(580-582)gCc>gTc	p.A194V	KCNQ3_ENST00000521134.1_Missense_Mutation_p.A74V|KCNQ3_ENST00000519445.1_Missense_Mutation_p.A194V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	194					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)			GGGCTTCCTGGCAAACTTCAG	0.517													5	534					0	0	1	0	0	A	133196511	G	A	133196511	3	1	34	1	0	0	0	0	1	0	0	0	8128	1203	42	2	2089	2	KCNQ3	8	133196511	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		133196511	13167511	81	24599											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:134233083C>T	ENST00000250160.6	+	3	715	c.610_splice	c.e3+1	p.F203_splice	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_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													56	172					0	0	1	0	0	T	134233083	C	T	134233083	5	4	34	1	0	0	0	0	0	0	1	0	17432	898	31	1	619	1	WISP1	8	134233083	Splice_Site	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	1036572	134233083	12130939	82	24600											
SLC45A4	57210	broad.mit.edu	37	chr8	142228490	142228492	+	In_Frame_Del	DEL	GCC	GCC	-													ggcctgcctgcggaacgcgtGccgccgccgccgcatggagc							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:142228490_142228492delGCC	ENST00000519067.1	-	4	1397_1399	c.1094_1096delGGC	c.(1093-1098)cac>c	p.RH365del	SLC45A4_ENST00000433583.2_In_Frame_Del_p.RH358del|SLC45A4_ENST00000024061.3_In_Frame_Del_p.RH365del|SLC45A4_ENST00000517878.1_In_Frame_Del_p.RH416del			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	416					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)			CGGAACGCGTGCCGCCGCCGCCG	0.675													8	460	---	---	---	---						-	142228492	GCC	-	142228490	7	5	34	1	0	1	0	1	0	0	0	0	14698	1319	46	0	1320	0	SLC45A4	8	142228490	In_Frame_Del	DEL	GCC	TCGA-OE-A75W-01A-12D-A32N-08	7995407	142228490	4135532	83	24601											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_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_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y			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)			45	61					0	0	1	0	0	A	21971111	G	A	21971111	3	1	34	1	0	0	0	0	1	0	0	0	3183	1319	46	2	231	2	CDKN2A	9	21971111	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		21971111	119242320	84	24602											
TRPM6	140803	broad.mit.edu	37	chr9	77354692	77354692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagattttatgccatgtccGcacaacctcaggaagaaagg	10	9	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:77354692G>A	ENST00000451710.3	-	33	5683	c.5446C>T	c.(5446-5448)Cgg>Tgg	p.R1816W	TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1812	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						TGCCATGTCCGCACAACCTCA	0.488													6	532					0	0	1	0	0	A	77354692	G	A	77354692	3	1	34	1	0	0	0	0	1	0	0	0	16651	1086	38	1	658	1	TRPM6	9	77354692	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	55383581	77354692	63858739	85	24603											
NFIL3	4783	broad.mit.edu	37	chr9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-													agcttcattatttttccgccTtttttcccaatacatagcat							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)ggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81					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						TTTTTCCGCCTTTTTTCCCAA	0.423													7	840	---	---	---	---						-	94172779	T	-	94172779	7	5	34	1	0	1	0	1	0	0	0	0	10420	1608	56	0	1154	0	NFIL3	9	94172779	Frame_Shift_Del	DEL	T	TCGA-OE-A75W-01A-12D-A32N-08	16818087	94172779	47040652	86	24604											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	367					0	0	1	0	0	T	103340638	C	T	103340638	2	4	34	1	0	0	0	0	0	0	0	1	10035	506	18	2		2	MURC	9	103340638	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	9167859	103340638	37872793	87	24605											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542877.1_Missense_Mutation_p.R1670C|TNC_ENST00000345230.3_Missense_Mutation_p.R1396C|TNC_ENST00000535648.1_Missense_Mutation_p.R1578C|TNC_ENST00000423613.2_Missense_Mutation_p.R1760C|TNC_ENST00000346706.3_Missense_Mutation_p.R1487C|TNC_ENST00000341037.4_Missense_Mutation_p.R1851C|TNC_ENST00000537320.1_Missense_Mutation_p.R1396C|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													9	395					0	0	1	0	0	A	117791711	G	A	117791711	3	1	34	1	0	0	0	0	1	0	0	0	16330	1145	40	1	524	1	TNC	9	117791711	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	14451073	117791711	23421720	88	24606											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	480					0	0	1	0	0	A	125486388	G	A	125486388	2	1	34	1	0	0	0	0	0	0	0	1	11013	1103	39	1		1	OR1L4	9	125486388	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	7694677	125486388	15727043	89	24607											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_002068.1	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													24	175					0	0	1	0	0	T	127644234	C	T	127644234	5	4	34	1	0	0	0	0	0	0	1	0	6593	927	32	2	350	2	GOLGA1	9	127644234	Splice_Site	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	2157846	127644234	13569197	90	24608											
ASS1	445	broad.mit.edu	37	chr9	133364801	133364801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatggaccgggaagtgcGcaaaatcaaacaaggcctgg	12	11	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:133364801G>A	ENST00000372394.1	+	13	1401	c.920G>A	c.(919-921)cGc>cAc	p.R307H	ASS1_ENST00000372393.3_Missense_Mutation_p.R307H|ASS1_ENST00000352480.5_Missense_Mutation_p.R307H			P00966	ASSY_HUMAN	argininosuccinate synthase 1	307			R -> C (in CTLN1).		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)	CGGGAAGTGCGCAAAATCAAA	0.532													6	736					0	0	1	0	0	A	133364801	G	A	133364801	3	1	34	1	0	0	0	0	1	0	0	0	1060	1087	38	1	962	1	ASS1	9	133364801	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	5720567	133364801	7848630	91	24609											
REXO4	57109	broad.mit.edu	37	chr9	136282883	136282883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcttcttgtttttcttccGagtgagcgtcttgacaggac	9	9	4	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:136282883G>A	ENST00000371942.3	-	1	281	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000478037.1_5'UTR|REXO4_ENST00000371935.2_Missense_Mutation_p.R28W	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	28						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TTTTTCTTCCGAGTGAGCGTC	0.612													7	564					0	0	1	0	0	A	136282883	G	A	136282883	3	1	34	1	0	0	0	0	1	0	0	0	13295	1057	37	1	1218	1	REXO4	9	136282883	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2918082	136282883	4930548	92	24610											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			77	242					0	0	1	0	0	A	139412298	G	A	139412298	2	1	34	1	0	0	0	0	0	0	0	1	10594	1079	38	1		1	NOTCH1	9	139412298	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3129415	139412298	1801133	93	24611											
KIAA1217	56243	broad.mit.edu	37	chr10	24813331	24813331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatggaaaaggccacagccGcagaagtcctgaagagtcag	12	10	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:24813331G>A	ENST00000376451.2	+	8	1845	c.1585G>A	c.(1585-1587)Gca>Aca	p.A529T	KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A529T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A529T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.A846T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A811T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A811T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A529T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A766T			Q5T5P2	SKT_HUMAN	KIAA1217	846					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						GGCCACAGCCGCAGAAGTCCT	0.602													5	262					0	0	1	0	0	A	24813331	G	A	24813331	3	1	34	1	0	0	0	0	1	0	0	0	8258	1087	38	1	2586	1	KIAA1217	10	24813331	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		24813331	110721416	94	24612											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000396445.1_Missense_Mutation_p.G852D|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.G1169D|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G1134D|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G1133D|KIAA1217_ENST00000307544.6_Missense_Mutation_p.G852D|KIAA1217_ENST00000376462.1_Intron			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													6	260					0	0	1	0	0	A	24825794	G	A	24825794	3	1	34	1	0	0	0	0	1	0	0	0	8258	1203	42	2	3572	2	KIAA1217	10	24825794	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	12463	24825794	110708953	95	24613											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					8	477					0	0	1	0	0	C	50678629	T	C	50678629	3	2	34	1	0	0	0	0	1	0	0	0	5245	1493	52	3	1120	3	ERCC6	10	50678629	Missense_Mutation	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	25852835	50678629	84856118	96	24614											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.W1506C|PCDH15_ENST00000409834.1_Missense_Mutation_p.W1117C|PCDH15_ENST00000395445.1_Missense_Mutation_p.V1490F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.V1487F|PCDH15_ENST00000395440.1_Intron	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)			101	380					1.21829e-65	1.33916e-65	1	1	0	A	55570351	C	A	55570351	3	1	34	1	0	0	0	0	1	0	0	0	11558	508	18	2	1452	2	PCDH15	10	55570351	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	4891722	55570351	79964396	97	24615											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	329					3.86212e-05	4.03701e-05	1	1	0	T	96802653	G	T	96802653	2	4	34	1	0	0	0	0	0	0	0	1	4190	1164	41	2		2	CYP2C8	10	96802653	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	41232302	96802653	38732094	98	24616											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	227					0	0	1	0	0	A	106118265	G	A	106118265	3	1	34	1	0	0	0	0	1	0	0	0	2799	1145	40	1	182	1	CCDC147	10	106118265	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	9315612	106118265	29416482	99	24617											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													59	153					0	0	1	0	0	A	117154220	G	A	117154220	3	1	34	1	0	0	0	0	1	0	0	0	1205	1377	48	2	3305	2	ATRNL1	10	117154220	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	11035955	117154220	18380527	100	24618											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	662					0	0	1	0	0	G	281566	A	G	281566	3	3	34	1	0	0	0	0	1	0	0	0	10528	304	11	3	1846	3	NLRP6	11	281566	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08		281566	134724950	101	24619											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													132	385					0	0	1	0	0	A	473950	G	A	473950	3	1	34	1	0	0	0	0	1	0	0	0	12786	942	33	2	350	2	PTDSS2	11	473950	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	192384	473950	134532566	102	24620											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	844					0	0	1	0	0	T	4976514	C	T	4976514	3	4	34	1	0	0	0	0	1	0	0	0	11134	710	25	2	513	2	OR51A2	11	4976514	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	4502564	4976514	130030002	103	24621											
APBB1	322	broad.mit.edu	37	chr11	6432337	6432337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcacggtgggccgtggCggcccgccggagctggttct	18	13	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:6432337C>T	ENST00000389906.2	-	2	340	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_Missense_Mutation_p.A81T|APBB1_ENST00000299402.6_Missense_Mutation_p.A81T	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	81					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)		TGGGCCGTGGCGGCCCGCCGG	0.667													8	968					0	0	1	0	0	T	6432337	C	T	6432337	3	4	34	1	0	0	0	0	1	0	0	0	755	768	27	1	1943	1	APBB1	11	6432337	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	1455823	6432337	128574179	104	24622											
AMPD3	272	broad.mit.edu	37	chr11	10483070	10483070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctttgctagctgagatgCcgcggcagtttcccaagctg	11	11	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:10483070C>T	ENST00000396554.3	+	2	372	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	AMPD3_ENST00000444303.2_5'UTR	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	2					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)		AGCTGAGATGCCGCGGCAGTT	0.552													6	887					0	0	1	0	0	T	10483070	C	T	10483070	3	4	34	1	0	0	0	0	1	0	0	0	583	739	26	2	57	2	AMPD3	11	10483070	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	4050733	10483070	124523446	105	24623											
KCNA4	3739	broad.mit.edu	37	chr11	30034029	30034031	+	In_Frame_Del	DEL	TGG	TGG	-													aggtacaggccccgcgtgacTggtggtggtggtgggagccc							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:30034029_30034031delTGG	ENST00000328224.6	-	2	1428_1430	c.195_197delCCA	c.(193-198)cag>ca	p.HQ65del		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	65	Poly-His.					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						CCCGCGTGACTGGTGGTGGTGGT	0.66													7	386	---	---	---	---						-	30034031	TGG	-	30034029	7	5	34	1	0	1	0	1	0	0	0	0	8049	1580	55	0	1768	0	KCNA4	11	30034029	In_Frame_Del	DEL	TGG	TCGA-OE-A75W-01A-12D-A32N-08	19550959	30034029	104972487	106	24624											
DTX4	23220	broad.mit.edu	37	chr11	58956751	58956751	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaataaaatccatcccagggGtttccaacacaagccgcaag	7	12	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:58956751G>T	ENST00000227451.3	+	4	1218	c.1114G>T	c.(1114-1116)Gtt>Ttt	p.V372F	DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Missense_Mutation_p.V266F	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	372					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)				CATCCCAGGGGTTTCCAACAC	0.552													5	36					1	1	1	1	0	T	58956751	G	T	58956751	3	4	34	1	0	0	0	0	1	0	0	0	4823	1261	44	2	1128	2	DTX4	11	58956751	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	28922722	58956751	76049765	107	24625											
TPCN2	219931	broad.mit.edu	37	chr11	68853219	68853219	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaacttcgatgactttgCggtgagccctgcgccctgtc	10	14	0	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:68853219C>T	ENST00000294309.3	+	21	2020	c.1920_splice	c.e21+1	p.A640_splice	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Intron	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	640					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)			GATGACTTTGCGGTGAGCCCT	0.682													5	487					0	0	1	0	0	T	68853219	C	T	68853219	5	4	34	1	0	0	0	0	0	0	1	0	16457	782	27	1	2001	1	TPCN2	11	68853219	Splice_Site	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	9896468	68853219	66153297	108	24626											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409161.1_Silent_p.V406V|SHANK2_ENST00000423696.2_Silent_p.V623V|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													8	895					0	0	1	0	0	A	70333392	G	A	70333392	2	1	34	1	0	0	0	0	0	0	0	1	14320	1161	41	2		2	SHANK2	11	70333392	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	1480173	70333392	64673124	109	24627											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000530055.1_Missense_Mutation_p.R59W|NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000539574.1_Missense_Mutation_p.R170W	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													33	285					0	0	1	0	0	T	71194032	C	T	71194032	3	4	34	1	0	0	0	0	1	0	0	0	10186	643	23	1	1342	1	NADSYN1	11	71194032	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	860640	71194032	63812484	110	24628											
KRTAP5-8	57830	broad.mit.edu	37	chr11	71249545	71249545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttcccagtccagctgCtgtaagccctgctgctgctc	10	15	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:71249545C>T	ENST00000398534.3	+	1	475	c.444C>T	c.(442-444)tgC>tgT	p.C148C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	148	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						AGTCCAGCTGCTGTAAGCCCT	0.607													7	1252					0	0	1	0	0	T	71249545	C	T	71249545	2	4	34	1	0	0	0	0	0	0	0	1	8606	805	28	2		2	KRTAP5-8	11	71249545	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	55513	71249545	63756971	111	24629											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													79	152					0	0	1	0	0	T	86158183	C	T	86158183	3	4	34	1	0	0	0	0	1	0	0	0	9469	768	27	1	526	1	ME3	11	86158183	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	14908638	86158183	48848333	112	24630											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	112					0	0	1	0	0	T	101833633	A	T	101833633	3	4	34	1	0	0	0	0	1	0	0	0	8269	101	4	5	1889	5	KIAA1377	11	101833633	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	15675450	101833633	33172883	113	24631											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000443271.2_Missense_Mutation_p.R123H|ELMOD1_ENST00000531234.1_Missense_Mutation_p.R117H	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													7	205					0	0	1	0	0	A	107506439	G	A	107506439	3	1	34	1	0	0	0	0	1	0	0	0	5096	1145	40	1	386	1	ELMOD1	11	107506439	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	5672806	107506439	27500077	114	24632											
DPAGT1	1798	broad.mit.edu	37	chr11	118967854	118967856	+	In_Frame_Del	DEL	GCA	GCA	-													ctcgattcccatcctcacctGcagcagcagcaggagcaatg							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:118967854_118967856delGCA	ENST00000409993.2	-	10	2708_2710	c.1157_1159delTGC	c.(1156-1161)cag>c	p.LQ386del	DPAGT1_ENST00000432443.2_In_Frame_Del_p.LQ279del|DPAGT1_ENST00000354202.4_In_Frame_Del_p.LQ386del			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	386					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)		ATCCTCACCTGCAGCAGCAGCAG	0.488													7	477	---	---	---	---						-	118967856	GCA	-	118967854	7	5	34	1	0	1	0	1	0	0	0	0	4737	1328	46	0	75	0	DPAGT1	11	118967854	In_Frame_Del	DEL	GCA	TCGA-OE-A75W-01A-12D-A32N-08	11461415	118967854	16038662	115	24633											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000426183.1_Intron|ACRV1_ENST00000257382.2_Intron|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000433875.1_Silent_p.A54A|ACRV1_ENST00000348856.3_Intron|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000353070.1_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													64	167					0	0	1	0	0	G	125548083	A	G	125548083	2	3	34	1	0	0	0	0	0	0	0	1	172	59	3	3		3	ACRV1	11	125548083	Silent	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	6580229	125548083	9458433	116	24634											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	211					0	0	1	0	0	T	5603958	C	T	5603958	3	4	34	1	0	0	0	0	1	0	0	0	10744	536	19	1	623	1	NTF3	12	5603958	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		5603958	128247937	117	24635											
PRB3	5544	broad.mit.edu	37	chr12	11420480	11420480	+	RNA	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgggggaccttgaggttTgttgcctccttgtgggggtg	19	6	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:11420480T>G	ENST00000381842.3	-	0	642				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_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)			CCTTGAGGTTTGTTGCCTCCT	0.617													5	27					0	0	1	0	0	G	11420480	T	G	11420480	1	3	34	0	1	0	0	0	0	0	0	0	12496	1821	63	3		3	PRB3	12	11420480	RNA	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	5816522	11420480	122431415	118	24636											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													146	387					0	0	1	0	0	G	12300383	A	G	12300383	3	3	34	1	0	0	0	0	1	0	0	0	9007	101	4	3	1563	3	LRP6	12	12300383	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	879903	12300383	121551512	119	24637											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_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													5	549					0	0	1	0	0	T	14766211	C	T	14766211	3	4	34	1	0	0	0	0	1	0	0	0	6937	536	19	1	163	1	GUCY2C	12	14766211	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	2465828	14766211	119085684	120	24638											
CASC1	55259	broad.mit.edu	37	chr12	25308303	25308306	+	Frame_Shift_Del	DEL	AATA	AATA	-													cttcaggaaaacacctctctAataaataaagttcttcaagt							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:25308303_25308306delAATA	ENST00000354189.5	-	5	448_451	c.413_416delTATT	c.(412-417)tafs	p.LL138fs	CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395990.2_Frame_Shift_Del_p.LL34fs|CASC1_ENST00000545133.1_Frame_Shift_Del_p.LL15fs|CASC1_ENST00000320267.9_Frame_Shift_Del_p.LL74fs|CASC1_ENST00000537577.1_5'UTR|CASC1_ENST00000395987.3_Frame_Shift_Del_p.LL80fs	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	74										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)			ACACCTCTCTAATAAATAAAGTTC	0.338													24	110	---	---	---	---						-	25308306	AATA	-	25308303	7	5	34	1	0	1	0	1	0	0	0	0	2678	372	13	0	1974	0	CASC1	12	25308303	Frame_Shift_Del	DEL	AATA	TCGA-OE-A75W-01A-12D-A32N-08	10542092	25308303	108543592	121	24639											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)			21	51					0	0	1	0	0	T	25398284	C	T	25398284	3	4	34	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	89981	25398284	108453611	122	24640											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542629.1_Missense_Mutation_p.D550H|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.D575H|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.D428H	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	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													6	513					0	0	1	0	0	C	27832529	G	C	27832529	3	2	34	1	0	0	0	0	1	0	0	0	12358	942	33	5	1835	5	PPFIBP1	12	27832529	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2434245	27832529	106019366	123	24641											
PTHLH	5744	broad.mit.edu	37	chr12	28116642	28116642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaggaagaatcgtcgccGtaaatcttggatggacttcc	12	8	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:28116642G>A	ENST00000535992.1	-	3	509	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	PTHLH_ENST00000538310.1_Missense_Mutation_p.R55W|PTHLH_ENST00000395872.1_Missense_Mutation_p.R55W|PTHLH_ENST00000539239.1_Missense_Mutation_p.R55W|PTHLH_ENST00000201015.4_Missense_Mutation_p.R55W|PTHLH_ENST00000395868.3_Missense_Mutation_p.R55W|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000545234.1_Missense_Mutation_p.R55W|PTHLH_ENST00000354417.3_Missense_Mutation_p.R55W			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	55					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)					AATCGTCGCCGTAAATCTTGG	0.468													7	609					0	0	1	0	0	A	28116642	G	A	28116642	3	1	34	1	0	0	0	0	1	0	0	0	12811	1144	40	1	382	1	PTHLH	12	28116642	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	284113	28116642	105735253	124	24642											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	166					0	0	1	0	0	A	45169879	T	A	45169879	3	1	34	1	0	0	0	0	1	0	0	0	10381	1667	58	5	1685	5	NELL2	12	45169879	Missense_Mutation	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	17053237	45169879	88682016	125	24643											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.P762S|ANO6_ENST00000423947.3_Missense_Mutation_p.P783S|ANO6_ENST00000441606.2_Missense_Mutation_p.P744S|ANO6_ENST00000435642.1_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													109	234					0	0	1	0	0	T	45814920	C	T	45814920	3	4	34	1	0	0	0	0	1	0	0	0	695	623	22	2	2374	2	ANO6	12	45814920	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	645041	45814920	88036975	126	24644											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.A677V|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.A677V|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.A628V|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.A719V	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	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													6	287					0	0	1	0	0	A	48134500	G	A	48134500	3	1	34	1	0	0	0	0	1	0	0	0	13097	1203	42	2	647	2	RAPGEF3	12	48134500	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2319580	48134500	85717395	127	24645											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	340					0	0	1	0	0	G	51749736	C	G	51749736	3	3	34	1	0	0	0	0	1	0	0	0	6257	835	29	5	267	5	GALNT6	12	51749736	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	3615236	51749736	82102159	128	24646											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.E43K|HOTAIR_ENST00000455246.1_RNA			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								11	668					0	0	1	0	0	A	54367152	G	A	54367152	3	1	34	1	0	0	0	0	1	0	0	0	7351	1059	37	1	129	1	HOXC11	12	54367152	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2617416	54367152	79484743	129	24647											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								15	247					0	0	1	0	0	A	59267907	T	A	59267907	2	1	34	1	0	0	0	0	0	0	0	1	8991	1741	61	5		5	LRIG3	12	59267907	Silent	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	4900755	59267907	74583988	130	24648											
NR2C1	7181	broad.mit.edu	37	chr12	95416154	95416154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcatcagtcttaaagctgGcaatctgagtagtagtctgg	10	7	5	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:95416154G>A	ENST00000333003.5	-	14	1993	c.1663C>T	c.(1663-1665)Cca>Tca	p.P555S		NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	555					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						CTTAAAGCTGGCAATCTGAGT	0.333													5	615					0	0	1	0	0	A	95416154	G	A	95416154	3	1	34	1	0	0	0	0	1	0	0	0	10670	1203	42	2	152	2	NR2C1	12	95416154	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	36148247	95416154	38435741	131	24649											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000349716.5_Missense_Mutation_p.E19K|TBX5_ENST00000405440.2_Missense_Mutation_p.E69K|TBX5_ENST00000552726.1_5'UTR	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													60	197					0	0	1	0	0	T	114839668	C	T	114839668	3	4	34	1	0	0	0	0	1	0	0	0	15721	893	31	1	1446	1	TBX5	12	114839668	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	19423514	114839668	19012227	132	24650											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535524.1_Intron|CAMKK2_ENST00000337174.3_Intron|CAMKK2_ENST00000412367.2_Intron|CAMKK2_ENST00000392473.2_Intron|CAMKK2_ENST00000324774.5_Intron|CAMKK2_ENST00000392474.2_Intron|CAMKK2_ENST00000347034.2_Intron|CAMKK2_ENST00000446440.2_Intron|CAMKK2_ENST00000404169.3_Intron|CAMKK2_ENST00000538733.1_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													17	45					0	0	1	0	0	A	121698198	G	A	121698198	2	1	34	1	0	0	0	0	0	0	0	1	2625	1131	39	1		1	CAMKK2	12	121698198	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	6858530	121698198	12153697	133	24651											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	60					0	0	1	0	0	A	123470864	G	A	123470864	4	1	34	1	0	0	0	0	0	1	0	0	11999	1328	46	2	293	2	PITPNM2	12	123470864	Nonsense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	1772666	123470864	10381031	134	24652											
DNAH10	196385	broad.mit.edu	37	chr12	124272482	124272482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatcggtgggagtttgaccGgaagcggctgttcgagagga	18	6	0	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:124272482G>A	ENST00000409039.3	+	10	1395	c.1370G>A	c.(1369-1371)cGg>cAg	p.R457Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	457	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)		GAGTTTGACCGGAAGCGGCTG	0.592													3	64					0	0	1	0	0	A	124272482	G	A	124272482	3	1	34	1	0	0	0	0	1	0	0	0	4626	1116	39	1	1408	1	DNAH10	12	124272482	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	801618	124272482	9579413	135	24653											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	93					0	0	1	0	0	G	20221309	C	G	20221309	3	3	34	1	0	0	0	0	1	0	0	0	9776	827	29	5	1106	5	MPHOSPH8	13	20221309	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		20221309	94948569	136	24654											
WASF3	10810	broad.mit.edu	37	chr13	27250862	27250863	+	Splice_Site	DEL	GT	GT	-													tccctgtccccagatactagGtgtgtgtgtgtcactgctcc							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:27250862_27250863delGT	ENST00000335327.5	+	7	894		c.e7+1		WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3						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)		CAGATACTAGGTGTGTGTGTGT	0.475													10	337	---	---	---	---						-	27250863	GT	-	27250862	8	5	34	1	0	1	0	1	0	0	1	0	17314	1275	44	0	735	0	WASF3	13	27250862	Splice_Site	DEL	GT	TCGA-OE-A75W-01A-12D-A32N-08	7029553	27250862	87919016	137	24655											
MTUS2	23281	broad.mit.edu	37	chr13	29855977	29855977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggagtttacttccagcGccaaaatccacttccacacc	6	16	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:29855977G>A	ENST00000431530.3	+	4	2869	c.2811G>A	c.(2809-2811)gcG>gcA	p.A937A		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	927	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.A937A(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TACTTCCAGCGCCAAAATCCA	0.562													5	332					0	0	1	0	0	A	29855977	G	A	29855977	2	1	34	1	0	0	0	0	0	0	0	1	10014	1074	38	1		1	MTUS2	13	29855977	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2605115	29855977	85313901	138	24656											
FRY	10129	broad.mit.edu	37	chr13	32841383	32841383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgccgcctttcagcccGcagcctgtgacgatgccgag	11	16	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:32841383G>A	ENST00000380250.3	+	55	8519	c.8023G>A	c.(8023-8025)Gca>Aca	p.A2675T	FRY_ENST00000542859.1_Missense_Mutation_p.A45T	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2675					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)		CTTTCAGCCCGCAGCCTGTGA	0.547													5	490					0	0	1	0	0	A	32841383	G	A	32841383	3	1	34	1	0	0	0	0	1	0	0	0	6098	1087	38	1	8241	1	FRY	13	32841383	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2985406	32841383	82328495	139	24657											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000494062.2_Missense_Mutation_p.V567A|SPG20_ENST00000438666.2_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													58	206					0	0	1	0	0	G	36886315	A	G	36886315	3	3	34	1	0	0	0	0	1	0	0	0	15098	43	2	3	308	3	SPG20	13	36886315	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	4044932	36886315	78283563	140	24658											
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-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	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													7	405					0	0	1	0	0	T	23898270	C	T	23898270	3	4	34	1	0	0	0	0	1	0	0	0	10087	681	24	2	4614	2	MYH7	14	23898270	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		23898270	83451270	141	24659											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	211					0	0	1	0	0	G	57698379	C	G	57698379	3	3	34	1	0	0	0	0	1	0	0	0	5334	912	32	5	1165	5	EXOC5	14	57698379	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	33800109	57698379	49651161	142	24660											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_015556.1	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													6	441					0	0	1	0	0	G	72055191	C	G	72055191	4	3	34	1	0	0	0	0	0	1	0	0	14384	838	29	5	604	5	SIPA1L1	14	72055191	Nonsense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	14356812	72055191	35294349	143	24661											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_015556.1	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													5	256					0	0	1	0	0	T	72055518	C	T	72055518	3	4	34	1	0	0	0	0	1	0	0	0	14384	838	29	2	931	2	SIPA1L1	14	72055518	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	327	72055518	35294022	144	24662	162	2									
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_015556.1	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													5	250					0.000602214	0.000624769	1	1	0	A	72055521	C	A	72055521	4	1	34	1	0	0	0	0	0	1	0	0	14384	838	29	2	934	2	SIPA1L1	14	72055521	Nonsense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	3	72055521	35294019	145	24663	162	2									
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398013.3_Missense_Mutation_p.R172H|NIPA2_ENST00000359727.4_Missense_Mutation_p.R153H|NIPA2_ENST00000539711.2_Missense_Mutation_p.R153H|NIPA2_ENST00000398014.2_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													82	86					0	0	1	0	0	T	23006789	C	T	23006789	3	4	34	1	0	0	0	0	1	0	0	0	10470	768	27	1	571	1	NIPA2	15	23006789	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		23006789	79524603	146	24664											
BUB1B	701	broad.mit.edu	37	chr15	40476052	40476052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggaaaaagacagcaagagCtccaatcatccgtgtaggag	12	8	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:40476052C>A	ENST00000287598.6	+	6	914	c.719C>A	c.(718-720)gCt>gAt	p.A240D	BUB1B_ENST00000412359.3_Missense_Mutation_p.A254D	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	240					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)		ACAGCAAGAGCTCCAATCATC	0.398			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				4	197					2.56e-06	2.69627e-06	1	1	0	A	40476052	C	A	40476052	3	1	34	1	0	0	0	0	1	0	0	0	1574	797	28	2	741	2	BUB1B	15	40476052	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	17469263	40476052	62055340	147	24665											
SPINT1	6692	broad.mit.edu	37	chr15	41148252	41148252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctcgagtcttgtcgcgGcatctccagtgagtgggcca	14	12	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:41148252G>A	ENST00000344051.4	+	9	1562	c.1328G>A	c.(1327-1329)gGc>gAc	p.G443D	SPINT1_ENST00000431806.1_Missense_Mutation_p.G427D|SPINT1_ENST00000562057.1_Missense_Mutation_p.G427D			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	443						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)		TCTTGTCGCGGCATCTCCAGT	0.587													5	387					0	0	1	0	0	A	41148252	G	A	41148252	3	1	34	1	0	0	0	0	1	0	0	0	15124	1203	42	2	1358	2	SPINT1	15	41148252	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	672200	41148252	61383140	148	24666											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	416					0	0	1	0	0	A	41192857	G	A	41192857	4	1	34	1	0	0	0	0	0	1	0	0	17254	1357	47	2	1855	2	VPS18	15	41192857	Nonsense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	44605	41192857	61338535	149	24667											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000537942.1_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D629N|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D610N|SEMA6D_ENST00000389428.3_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													10	327					0	0	1	0	0	A	48060897	G	A	48060897	3	1	34	1	0	0	0	0	1	0	0	0	14096	1290	45	2	1994	2	SEMA6D	15	48060897	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	6868040	48060897	54470495	150	24668											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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	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													5	215					0	0	1	0	0	C	49776572	A	C	49776572	2	2	34	1	0	0	0	0	0	0	0	1	5890	204	8	3		3	FGF7	15	49776572	Silent	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	1715675	49776572	52754820	151	24669											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000260433.2_Missense_Mutation_p.K390R|CYP19A1_ENST00000559878.1_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													5	494					0	0	1	0	0	C	51504611	T	C	51504611	3	2	34	1	0	0	0	0	1	0	0	0	4171	1609	56	3	350	3	CYP19A1	15	51504611	Missense_Mutation	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	1728039	51504611	51026781	152	24670											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Missense_Mutation_p.P442T	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													215	560					8.13142e-89	8.97372e-89	1	1	0	A	75116728	C	A	75116728	3	1	34	1	0	0	0	0	1	0	0	0	8878	739	26	2	1410	2	LMAN1L	15	75116728	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	23612117	75116728	27414664	153	24671											
MESDC2	23184	broad.mit.edu	37	chr15	81281974	81281976	+	In_Frame_Del	DEL	CTT	CTT	-													tcattgtaatcgcgaatatcCttcttcttcttccggggagg							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:81281974_81281976delCTT	ENST00000261758.4	-	1	243_245	c.157_159delAAG	c.(157-159)del	p.K53del		NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	53	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						CGCGAATATCCTTCTTCTTCTTC	0.655													7	438	---	---	---	---						-	81281976	CTT	-	81281974	7	5	34	1	0	1	0	1	0	0	0	0	9531	680	24	0	557	0	MESDC2	15	81281974	In_Frame_Del	DEL	CTT	TCGA-OE-A75W-01A-12D-A32N-08	6165246	81281974	21249418	154	24672											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352105.7_Missense_Mutation_p.R2143T|ACAN_ENST00000561243.1_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													5	466					0	0	1	0	0	C	89402244	G	C	89402244	3	2	34	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	8120270	89402244	13129148	155	24673											
UNC45A	55898	broad.mit.edu	37	chr15	91496527	91496527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcccacgctctgcagccGcattccccaagtggtcagtg	12	16	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:91496527G>A	ENST00000394275.2	+	22	3354	c.2519G>A	c.(2518-2520)cGc>cAc	p.R840H	UNC45A_ENST00000418476.2_Missense_Mutation_p.R855H|AC068831.6_ENST00000553321.1_RNA	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	855					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTCTGCAGCCGCATTCCCCAA	0.642													6	425					0	0	1	0	0	A	91496527	G	A	91496527	3	1	34	1	0	0	0	0	1	0	0	0	17048	1087	38	1	2638	1	UNC45A	15	91496527	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2094283	91496527	11034865	156	24674											
ADAMTS17	170691	broad.mit.edu	37	chr15	100591875	100591875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctttgattttccgcagtgCggtttacaggaacagtgtat	11	8	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:100591875C>T	ENST00000268070.4	-	17	2462	c.2357G>A	c.(2356-2358)cGc>cAc	p.R786H		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	786					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)		TTCCGCAGTGCGGTTTACAGG	0.478													6	734					0	0	1	0	0	T	100591875	C	T	100591875	3	4	34	1	0	0	0	0	1	0	0	0	261	768	27	1	954	1	ADAMTS17	15	100591875	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	9095348	100591875	1939517	157	24675											
AXIN1	8312	broad.mit.edu	37	chr16	396851	396851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgagcgcctcggagtggCcgtcgaagtctcacctttaa	11	13	1	0	rs144470280	by1000genomes	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:396851C>T	ENST00000262320.3	-	2	546	c.175G>A	c.(175-177)Gcc>Acc	p.A59T	AXIN1_ENST00000354866.3_Missense_Mutation_p.A59T|AXIN1_ENST00000481769.1_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	59					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)				CTCGGAGTGGCCGTCGAAGTC	0.612											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	168					0	0	1	0	0	T	396851	C	T	396851	3	4	34	1	0	0	0	0	1	0	0	0	1234	739	26	2	2453	2	AXIN1	16	396851	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		396851	89957902	158	24676											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	524					0	0	1	0	0	A	1657152	G	A	1657152	3	1	34	1	0	0	0	0	1	0	0	0	7600	1294	45	2	4388	2	IFT140	16	1657152	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	1260301	1657152	88697601	159	24677											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	137					0	0	1	0	0	A	46781922	G	A	46781922	3	1	34	1	0	0	0	0	1	0	0	0	10106	1086	38	1	2327	1	MYLK3	16	46781922	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	45124770	46781922	43572831	160	24678											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361503.4_Silent_p.P68P|CES1_ENST00000360526.3_Silent_p.P69P			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													46	166					0	0	1	0	0	T	55862732	C	T	55862732	2	4	34	1	0	0	0	0	0	0	0	1	3291	755	27	1		1	CES1	16	55862732	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	9080810	55862732	34492021	161	24679											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000327655.6_Silent_p.T54T|GPR97_ENST00000450388.3_Silent_p.T144T	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													55	163					0	0	1	0	0	A	57714440	G	A	57714440	2	1	34	1	0	0	0	0	0	0	0	1	6761	1103	39	1		1	GPR97	16	57714440	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	1851708	57714440	32640313	162	24680											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	471					0	0	1	0	0	T	67006386	C	T	67006386	2	4	34	1	0	0	0	0	0	0	0	1	3293	813	29	2		2	CES3	16	67006386	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	9291946	67006386	23348367	163	24681											
EDC4	23644	broad.mit.edu	37	chr16	67913786	67913788	+	In_Frame_Del	DEL	AGC	AGC	-													ccagcagcagcagcagcggtAgcagcagcagcagcagcagt							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:67913786_67913788delAGC	ENST00000358933.5	+	16	2094_2096	c.1855_1857delAGC	c.(1855-1857)del	p.S629del		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	629	Ser-rich.				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)		cagcagcggtagcagcagcagca	0.616													8	287	---	---	---	---						-	67913788	AGC	-	67913786	7	5	34	1	0	1	0	1	0	0	0	0	4934	420	15	0	1917	0	EDC4	16	67913786	In_Frame_Del	DEL	AGC	TCGA-OE-A75W-01A-12D-A32N-08	907400	67913786	22440967	164	24682											
CTNS	1497	broad.mit.edu	37	chr17	3543532	3543532	+	Frame_Shift_Del	DEL	T	T	-													ttggctgactatttttatccTttttcccctgaagctcgtag							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:3543532delT	ENST00000046640.3	+	3	625	c.32delT	c.(31-33)ctfs	p.L11fs	CTNS_ENST00000488623.1_Intron|CTNS_ENST00000441220.2_5'UTR|CTNS_ENST00000414524.2_Intron|CTNS_ENST00000399306.2_Frame_Shift_Del_p.L11fs|CTNS_ENST00000381870.3_Frame_Shift_Del_p.L11fs	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	11					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)	ATTTTTATCCTTTTTCCCCTG	0.393													7	510	---	---	---	---						-	3543532	T	-	3543532	7	5	34	1	0	1	0	1	0	0	0	0	4045	1609	56	0	34	0	CTNS	17	3543532	Frame_Shift_Del	DEL	T	TCGA-OE-A75W-01A-12D-A32N-08		3543532	77651678	165	24683											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron	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)			97	139					0	0	1	0	0	A	7577022	G	A	7577022	4	1	34	1	0	0	0	0	0	1	0	0	16442	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	4033490	7577022	73618188	166	24684											
MED9	55090	broad.mit.edu	37	chr17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-													gcatccacctgagccccgaaCagcagcagcagcagctgcag							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)del	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117					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						GAGCCCCGAACAGCAGCAGCAGC	0.581													7	330	---	---	---	---						-	17394707	CAG	-	17394705	7	5	34	1	0	1	0	1	0	0	0	0	9504	479	17	0	343	0	MED9	17	17394705	In_Frame_Del	DEL	CAG	TCGA-OE-A75W-01A-12D-A32N-08	9817683	17394705	63800505	167	24685											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			50	572					0	0	1	0	0	G	29665118	T	G	29665118	2	3	34	1	0	0	0	0	0	0	0	1	10403	1538	54	3		3	NF1	17	29665118	Silent	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	12270413	29665118	51530092	168	24686											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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					6	226					0	0	1	0	0	A	33318808	T	A	33318808	3	1	34	1	0	0	0	0	1	0	0	0	8822	1551	54	5	1178	5	LIG3	17	33318808	Missense_Mutation	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	3653690	33318808	47876402	169	24687											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)cttafs	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													40	286	---	---	---	---						-	33902993	AG	-	33902992	7	5	34	1	0	1	0	1	0	0	0	0	11788	69	3	0	194	0	PEX12	17	33902992	Frame_Shift_Del	DEL	AG	TCGA-OE-A75W-01A-12D-A32N-08	584184	33902992	47292218	170	24688											
THRA	7067	broad.mit.edu	37	chr17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccagggcttctttcgccGcacaatccagaagaacctcc	7	17	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:38240101G>A	ENST00000450525.2	+	5	727	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000264637.4_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					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	p.R79H(2)		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)	TTCTTTCGCCGCACAATCCAG	0.547													5	471					0	0	1	0	0	A	38240101	G	A	38240101	3	1	34	1	0	0	0	0	1	0	0	0	15933	1087	38	1	250	1	THRA	17	38240101	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	4337109	38240101	42955109	171	24689											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000580419.1_Missense_Mutation_p.R262H|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000544009.1_Missense_Mutation_p.R227H|SMARCE1_ENST00000578044.1_Missense_Mutation_p.R227H|SMARCE1_ENST00000431889.2_Missense_Mutation_p.R279H|SMARCE1_ENST00000400122.3_Missense_Mutation_p.R227H|SMARCE1_ENST00000377808.4_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													108	296					0	0	1	0	0	T	38787103	C	T	38787103	3	4	34	1	0	0	0	0	1	0	0	0	14834	768	27	1	353	1	SMARCE1	17	38787103	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	547002	38787103	42408107	172	24690											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													52	157					3.31993e-32	3.60635e-32	1	1	0	T	40925889	G	T	40925889	3	4	34	1	0	0	0	0	1	0	0	0	17256	962	34	2	198	2	VPS25	17	40925889	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2138786	40925889	40269321	173	24691											
SGSH	6448	broad.mit.edu	37	chr17	78184614	78184614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgcacgaggcggaagtgCcggtgctgcacggagcgcat	17	10	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:78184614C>T	ENST00000326317.6	-	8	1232	c.1146G>A	c.(1144-1146)cgG>cgA	p.R382R	SGSH_ENST00000534910.1_Silent_p.R179R	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	382					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)			GGCGGAAGTGCCGGTGCTGCA	0.637													7	394					0	0	1	0	0	T	78184614	C	T	78184614	2	4	34	1	0	0	0	0	0	0	0	1	14275	726	26	2		2	SGSH	17	78184614	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	37258725	78184614	3010596	174	24692											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	102					0	0	1	0	0	C	2739500	G	C	2739500	3	2	34	1	0	0	0	0	1	0	0	0	14842	943	33	5	3602	5	SMCHD1	18	2739500	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		2739500	75337748	175	24693											
LAMA3	3909	broad.mit.edu	37	chr18	21426312	21426312	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccgccaggtccctggtggcCttttaccacaagggcgccct	11	16	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr18:21426312C>A	ENST00000313654.9	+	31	4012	c.3771C>A	c.(3769-3771)gcC>gcA	p.A1257A	LAMA3_ENST00000399516.3_Silent_p.A1257A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1257	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)	CCCTGGTGGCCTTTTACCACA	0.627													5	441					0.014758	0.0150847	1	1	0	A	21426312	C	A	21426312	2	1	34	1	0	0	0	0	0	0	0	1	8646	668	24	2		2	LAMA3	18	21426312	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	18686812	21426312	56650936	176	24694											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000346144.4_Intron|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000382683.4_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													4	170					0	0	1	0	0	A	501739	G	A	501739	2	1	34	1	0	0	0	0	0	0	0	1	9197	1103	39	1		1	MADCAM1	19	501739	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		501739	58627244	177	24695											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:2341000G>A	ENST00000452401.2	+	0	1021				AC005258.3_ENST00000590001.1_RNA			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													5	188					0	0	1	0	0	A	2341000	G	A	2341000	1	1	34	0	1	0	0	0	0	0	0	0	15145	1087	38	1		1	SPPL2B	19	2341000	RNA	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	1839261	2341000	56787983	178	24696											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	62					0	0	1	0	0	A	4652052	G	A	4652052	2	1	34	1	0	0	0	0	0	0	0	1	16337	933	33	2		2	TNFAIP8L1	19	4652052	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2311052	4652052	54476931	179	24697											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000601739.1_Missense_Mutation_p.E898K|FBN3_ENST00000270509.2_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													10	246					0	0	1	0	0	T	8190815	C	T	8190815	3	4	34	1	0	0	0	0	1	0	0	0	5737	922	32	2	5909	2	FBN3	19	8190815	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	3538763	8190815	50938168	180	24698											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_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													155	309					0	0	1	0	0	T	14266197	C	T	14266197	3	4	34	1	0	0	0	0	1	0	0	0	8960	536	19	1	1165	1	LPHN1	19	14266197	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	6075382	14266197	44862786	181	24699											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	27					0	0	1	0	0	T	15271827	C	T	15271827	2	4	34	1	0	0	0	0	0	0	0	1	10597	755	27	1		1	NOTCH3	19	15271827	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	1005630	15271827	43857156	182	24700											
CYP4F2	8529	broad.mit.edu	37	chr19	16006353	16006353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccggatgatgtcggggtgGcacaaactgaggagggggga	20	6	0	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:16006353G>A	ENST00000221700.5	-	3	401	c.306C>T	c.(304-306)tgC>tgT	p.C102C	CYP4F2_ENST00000592328.1_Intron|CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	102					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	p.C102C(1)		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						TGTCGGGGTGGCACAAACTGA	0.597													6	764					0	0	1	0	0	A	16006353	G	A	16006353	2	1	34	1	0	0	0	0	0	0	0	1	4211	1195	42	2		2	CYP4F2	19	16006353	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	734526	16006353	43122630	183	24701											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	616					0	0	1	0	0	T	36043993	C	T	36043993	2	4	34	1	0	0	0	0	0	0	0	1	1144	755	27	1		1	ATP4A	19	36043993	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	20037640	36043993	23084990	184	24702											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													19	398					0	0	1	0	0	A	36303061	G	A	36303061	3	1	34	1	0	0	0	0	1	0	0	0	12601	1145	40	1	929	1	PRODH2	19	36303061	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	259068	36303061	22825922	185	24703											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													44	202					0	0	1	0	0	T	38682812	C	T	38682812	2	4	34	1	0	0	0	0	0	0	0	1	14386	900	32	2		2	SIPA1L3	19	38682812	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	2379751	38682812	20446171	186	24704											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360985.3_Missense_Mutation_p.R4888Q|RYR1_ENST00000359596.3_Missense_Mutation_p.R4893Q	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													28	217					0	0	1	0	0	A	39075614	G	A	39075614	3	1	34	1	0	0	0	0	1	0	0	0	13820	1116	39	1	15084	1	RYR1	19	39075614	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	392802	39075614	20053369	187	24705											
LGALS4	3960	broad.mit.edu	37	chr19	39297196	39297196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccatctgtaggggaagccGgtgcccgtactcatagaagg	14	10	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:39297196G>A	ENST00000307751.4	-	4	856	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	LGALS4_ENST00000597803.1_5'UTR	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	127	Galectin 1.				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)			AGGGGAAGCCGGTGCCCGTAC	0.567													4	241					0	0	1	0	0	A	39297196	G	A	39297196	3	1	34	1	0	0	0	0	1	0	0	0	8784	1115	39	1	620	1	LGALS4	19	39297196	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	221582	39297196	19831787	188	24706											
ERF	2077	broad.mit.edu	37	chr19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-													gcttaaacttgaatggggagGaagaagaagaagaggatgac							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcc>tc	p.SS371del	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				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)				GAATGGGGAGGAAGAAGAAGAAG	0.68													7	652	---	---	---	---						-	42753151	GAA	-	42753149	7	5	34	1	0	1	0	1	0	0	0	0	5249	1174	41	0	535	0	ERF	19	42753149	In_Frame_Del	DEL	GAA	TCGA-OE-A75W-01A-12D-A32N-08	3455953	42753149	16375834	189	24707											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	825					0	0	1	0	0	A	44131875	G	A	44131875	2	1	34	1	0	0	0	0	0	0	0	1	2587	1195	42	2		2	CADM4	19	44131875	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	1378726	44131875	14997108	190	24708											
OPA3	80207	broad.mit.edu	37	chr19	46032694	46032694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatgcgcattttggtccGcatctccagccagtggtaca	10	12	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:46032694G>A	ENST00000323060.3	-	2	240	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W		NM_001017989.2	NP_001017989.2	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	55					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)		ATTTTGGTCCGCATCTCCAGC	0.617													7	691					0	0	1	0	0	A	46032694	G	A	46032694	3	1	34	1	0	0	0	0	1	0	0	0	10920	1086	38	1	383	1	OPA3	19	46032694	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	1900819	46032694	13096289	191	24709											
ARHGAP35	2909	broad.mit.edu	37	chr19	47503775	47503775	+	Frame_Shift_Del	DEL	C	C	-													acaatcggcccatcaccgagCcccccggcgccaggcccagc							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:47503775delC	ENST00000404338.3	+	6	4330	c.4330delC	c.(4330-4332)ccfs	p.P1445fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1445	Pro-rich.				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										CATCACCGAGCCCCCCGGCGC	0.632													7	467	---	---	---	---						-	47503775	C	-	47503775	7	5	34	1	0	1	0	1	0	0	0	0	6836	739	26	0	4352	0	ARHGAP35	19	47503775	Frame_Shift_Del	DEL	C	TCGA-OE-A75W-01A-12D-A32N-08	1471081	47503775	11625208	192	24710											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000421133.2_Missense_Mutation_p.P2L|CD33_ENST00000391796.3_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													19	161					0	0	1	0	0	T	51728379	C	T	51728379	3	4	34	1	0	0	0	0	1	0	0	0	3027	652	23	1	7	1	CD33	19	51728379	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	4224604	51728379	7400604	193	24711											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													154	401					0	0	1	0	0	A	56243922	G	A	56243922	2	1	34	1	0	0	0	0	0	0	0	1	10531	1074	38	1		1	NLRP9	19	56243922	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	4515543	56243922	2885061	194	24712											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	424					0	0	1	0	0	T	57036821	A	T	57036821	3	4	34	1	0	0	0	0	1	0	0	0	17987	72	3	5	1399	5	ZNF471	19	57036821	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	792899	57036821	2092162	195	24713											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:257686G>A	ENST00000360321.2	-	8	962	c.825_splice	c.e8+1	p.A275_splice	C20orf96_ENST00000400269.3_Splice_Site_p.A217_splice|C20orf96_ENST00000382369.5_Splice_Site_p.A240_splice	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													7	801					0	0	1	0	0	A	257686	G	A	257686	5	1	34	1	0	0	0	0	0	0	1	0	2136	1101	38	1	283	1	C20orf96	20	257686	Splice_Site	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		257686	62767834	196	24714											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	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													34	433					0	0	1	0	0	T	13514683	C	T	13514683	3	4	34	1	0	0	0	0	1	0	0	0	15646	623	22	2	505	2	TASP1	20	13514683	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	13256997	13514683	49510837	197	24715											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:32232202A>T	ENST00000346541.3	+	12	2102	c.1565A>T	c.(1564-1566)aAt>aTt	p.N522I	CBFA2T2_ENST00000359606.3_Missense_Mutation_p.N532I|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.N513I|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.N493I|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.N522I|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.N70I	NM_005093.3	NP_005084.1	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													103	302					0	0	1	0	0	T	32232202	A	T	32232202	3	4	34	1	0	0	0	0	1	0	0	0	2715	101	4	5	1645	5	CBFA2T2	20	32232202	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	18717519	32232202	30793318	198	24716											
EMILIN3	90187	broad.mit.edu	37	chr20	39992497	39992497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgggtctgagtactgtgcGgtacctgggccagggagggc	18	8	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:39992497G>A	ENST00000332312.3	-	3	487	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	99	EMI.					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)				AGTACTGTGCGGTACCTGGGC	0.602													5	282					0	0	1	0	0	A	39992497	G	A	39992497	3	1	34	1	0	0	0	0	1	0	0	0	5123	1116	39	1	2013	1	EMILIN3	20	39992497	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	7760295	39992497	23033023	199	24717											
IFNGR2	3460	broad.mit.edu	37	chr21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-													tcgctgatacctccacggccTttttttgttattatgtccat							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)ttfs	p.F173fs	IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													9	902	---	---	---	---						-	34799292	T	-	34799292	7	5	34	1	0	1	0	1	0	0	0	0	7594	1609	56	0	528	0	IFNGR2	21	34799292	Frame_Shift_Del	DEL	T	TCGA-OE-A75W-01A-12D-A32N-08		34799292	13330603	200	24718											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	283					0	0	1	0	0	A	20096497	G	A	20096497	3	1	34	1	0	0	0	0	1	0	0	0	4492	943	33	2	2255	2	DGCR8	22	20096497	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		20096497	31208069	201	24719											
SCARF2	0	broad.mit.edu	37	chr22	20785508	20785508	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctcgcagggagacgagttGcaggcgcactggttgttgca	16	9	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:20785508G>T	ENST00000405555.3	-	4	721	c.651C>A	c.(649-651)tgC>tgA	p.C217*	SCARF2_ENST00000266214.5_Nonsense_Mutation_p.C217*	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	217	EGF-like 5.				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAGACGAGTTGCAGGCGCACT	0.711													3	35					1	1	1	1	0	T	20785508	G	T	20785508	4	4	34	1	0	0	0	0	0	1	0	0	13937	1311	46	2	1993	2	SCARF2	22	20785508	Nonsense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	689011	20785508	30519058	202	24720											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	704					0	0	1	0	0	A	24086056	G	A	24086056	2	1	34	1	0	0	0	0	0	0	0	1	18159	1079	38	1		1	ZNF70	22	24086056	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3300548	24086056	27218510	203	24721											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	169					0	0	1	0	0	T	27003917	C	T	27003917	3	4	34	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	204	24722											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	103					0	0	1	0	0	A	41625557	G	A	41625557	2	1	34	1	0	0	0	0	0	0	0	1	8631	1074	38	1		1	L3MBTL2	22	41625557	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	14621640	41625557	9679009	205	24723											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:50303671C>T	ENST00000330817.5	-	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	179					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													20	73					0	0	1	0	0	T	50303671	C	T	50303671	3	4	34	1	0	0	0	0	1	0	0	0	511	768	27	1	955	1	ALG12	22	50303671	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	8678114	50303671	1000895	206	24724											
PHF8	23133	broad.mit.edu	37	chrX	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-													tgttcatccagactggcgttCtcctcctcctcctcgctctc							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chrX:54011405_54011407delCTC	ENST00000338154.6	-	18	2887_2889	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831	Ser-rich.				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						GACTGGCGTTCTCCTCCTCCTCC	0.591													10	380	---	---	---	---						-	54011407	CTC	-	54011405	7	5	34	1	0	1	0	1	0	0	0	0	11888	912	32	0	835	0	PHF8	23	54011405	In_Frame_Del	DEL	CTC	TCGA-OE-A75W-01A-12D-A32N-08		54011405	101259155	207	24725											
MAP7D3	79649	broad.mit.edu	37	chrX	135314164	135314164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgggggacgcttccatgcTtgtgttgcagaatacttcca	11	10	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chrX:135314164T>C	ENST00000316077.9	-	8	1172	c.952A>G	c.(952-954)Agc>Ggc	p.S318G	MAP7D3_ENST00000370661.1_Missense_Mutation_p.S283G|MAP7D3_ENST00000370663.5_Missense_Mutation_p.S300G	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	318						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)					GCTTCCATGCTTGTGTTGCAG	0.567													5	453					0	0	1	0	0	C	135314164	T	C	135314164	3	2	34	1	0	0	0	0	1	0	0	0	9319	1609	56	3	1722	3	MAP7D3	23	135314164	Missense_Mutation	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	81302759	135314164	19956396	208	24726											
SPANXN2	494119	broad.mit.edu	37	chrX	142795255	142795255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatccttcagatgagtcCaggtcttcgtcctcctgtga	10	11	2	4			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chrX:142795255C>T	ENST00000370498.1	-	2	1176	c.423G>A	c.(421-423)ctG>ctA	p.L141L		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	141										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)					CAGATGAGTCCAGGTCTTCGT	0.517													6	534					0	0	1	0	0	T	142795255	C	T	142795255	2	4	34	1	0	0	0	0	0	0	0	1	15047	581	21	2		2	SPANXN2	23	142795255	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	7481091	142795255	12475305	209	24727											
MAMLD1	10046	broad.mit.edu	37	chrX	149639144	149639144	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcttgccaacctcatgtcCtctaccatcaaaacccctca	2	17	5	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chrX:149639144C>A	ENST00000370401.2	+	4	1609	c.1299C>A	c.(1297-1299)tcC>tcA	p.S433S	MAMLD1_ENST00000262858.5_Silent_p.S433S|MAMLD1_ENST00000426613.2_Silent_p.S408S|MAMLD1_ENST00000432680.2_Silent_p.S408S			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	433					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)					ACCTCATGTCCTCTACCATCA	0.612													5	560					1	1	1	1	0	A	149639144	C	A	149639144	2	1	34	1	0	0	0	0	0	0	0	1	9258	668	24	2		2	MAMLD1	23	149639144	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	6843889	149639144	5631416	210	24728											
MAMLD1	10046	broad.mit.edu	37	chrX	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-													gtaatcttctaagccagcaaCagcagcagcagcagcagcag							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)del	p.Q502del	MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532													8	209	---	---	---	---						-	149639327	CAG	-	149639325	7	5	34	1	0	1	0	1	0	0	0	0	9258	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Del	DEL	CAG	TCGA-OE-A75W-01A-12D-A32N-08	181	149639325	5631235	211	24729											
PASD1	139135	broad.mit.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-													aagccgtgtacgttgaacccGctgctgctgctgctgctgct							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)del	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)		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)					CGTTGAACCCgctgctgctgctg	0.433													8	298	---	---	---	---						-	150817144	GCT	-	150817142	7	5	34	1	0	1	0	1	0	0	0	0	11518	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-OE-A75W-01A-12D-A32N-08	1177817	150817142	4453418	212	24730											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000350060.5_Missense_Mutation_p.R56H|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R33H|ARHGAP4_ENST00000393721.1_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													24	20					0	0	1	0	0	T	153187163	C	T	153187163	3	4	34	1	0	0	0	0	1	0	0	0	882	768	27	1	2881	1	ARHGAP4	23	153187163	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	2370021	153187163	2083397	213	24731											
F8	2157	broad.mit.edu	37	chrX	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-													gaatggctaaagaaaggttaTtttttttggctccttgtaag							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)atfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				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.N1460fs*5(2)|p.N1460fs*2(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)	AGAAAGGTTATTTTTTTTGGC	0.413													7	223	---	---	---	---						-	154157686	T	-	154157686	7	5	34	1	0	1	0	1	0	0	0	0	5378	1493	52	0	2756	0	F8	23	154157686	Frame_Shift_Del	DEL	T	TCGA-OE-A75W-01A-12D-A32N-08	970523	154157686	1112874	214	24732											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	357					0	0	1	0	0	T	36557376	C	T	36557376	3	4	35	1	0	0	0	0	1	0	0	0	332	759	27	1	476	1	ADPRHL2	1	36557376	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08		36557376	212693245	1	24733											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347													9	280	---	---	---	---						-	46184898	AC	-	46184897	7	5	35	1	0	1	0	1	0	0	0	0	7844	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-Q3-A5QY-01A-12D-A32N-08	9627521	46184897	203065724	2	24734											
LRRC41	10489	broad.mit.edu	37	chr1	46752129	46752129	+	Frame_Shift_Del	DEL	A	A	-													ggtcccacgtagaacatgggAaaaaaaggcctccataaact							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:46752129delA	ENST00000343304.6	-	4	685	c.400delT	c.(400-402)ccfs	p.S134fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	134										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGAACATGGGAAAAAAAGGCC	0.483													7	290	---	---	---	---						-	46752129	A	-	46752129	7	5	35	1	0	1	0	1	0	0	0	0	9044	246	9	0	2066	0	LRRC41	1	46752129	Frame_Shift_Del	DEL	A	TCGA-Q3-A5QY-01A-12D-A32N-08	567232	46752129	202498492	3	24735											
NRD1	4898	broad.mit.edu	37	chr1	52285521	52285521	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaatggatccgttaaatgGccaaagtttggtctgggtaa	11	6	2	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:52285521G>A	ENST00000354831.7	-	11	1635	c.1446C>T	c.(1444-1446)ggC>ggT	p.G482G	NRD1_ENST00000544028.1_Silent_p.G282G|NRD1_ENST00000539524.1_Silent_p.G350G|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.G414G	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	413					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						CCGTTAAATGGCCAAAGTTTG	0.328													4	58					0	0	1	0	0	A	52285521	G	A	52285521	2	1	35	1	0	0	0	0	0	0	0	1	10693	1190	42	2		2	NRD1	1	52285521	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	5533392	52285521	196965100	4	24736											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	559					0	0	1	0	0	T	152082631	C	T	152082631	3	4	35	1	0	0	0	0	1	0	0	0	15760	768	27	1	2773	1	TCHH	1	152082631	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	99797110	152082631	97167990	5	24737											
NR1I3	0	broad.mit.edu	37	chr1	161206281	161206281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagccctcacaagtcagCgcattaaagtggtagcctgt	10	11	2	0	rs140012276	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:161206281C>T	ENST00000367983.4	-	2	369	c.75G>A	c.(73-75)gcG>gcA	p.A25A	NR1I3_ENST00000428574.2_Silent_p.A25A|NR1I3_ENST00000367979.2_Silent_p.A25A|NR1I3_ENST00000442691.2_Silent_p.A25A|NR1I3_ENST00000367981.3_Intron|NR1I3_ENST00000367985.3_Silent_p.A25A|NR1I3_ENST00000505005.1_Silent_p.A25A|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367980.2_Silent_p.A25A|NR1I3_ENST00000367982.4_Silent_p.A25A|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000502985.1_Silent_p.A25A|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000515621.1_Intron|NR1I3_ENST00000511944.1_Silent_p.A25A|NR1I3_ENST00000515452.1_Silent_p.A25A|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000511676.1_Intron|NR1I3_ENST00000506209.1_Intron|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367984.4_Silent_p.A25A|NR1I3_ENST00000437437.2_Intron			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	25					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)			CACAAGTCAGCGCATTAAAGT	0.532													5	455					0	0	1	0	0	T	161206281	C	T	161206281	2	4	35	1	0	0	0	0	0	0	0	1	10669	755	27	1		1	NR1I3	1	161206281	Silent	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	9123650	161206281	88044340	6	24738											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	242					0	0	1	0	0	A	211263994	G	A	211263994	4	1	35	1	0	0	0	0	0	1	0	0	8075	1066	37	1	2652	1	KCNH1	1	211263994	Nonsense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	50057713	211263994	37986627	7	24739											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27887291	27887291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggccctgacggagaatgCgacagcaacgggccgggctt	15	13	0	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:27887291C>T	ENST00000326019.6	+	1	954	c.672C>T	c.(670-672)tgC>tgT	p.C224C		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	224	FHA.					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)					ACGGAGAATGCGACAGCAACG	0.622													5	271					0	0	1	0	0	T	27887291	C	T	27887291	2	4	35	1	0	0	0	0	0	0	0	1	14708	776	27	1		1	SLC4A1AP	2	27887291	Silent	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08		27887291	215312082	8	24740											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402717.3_Silent_p.S151S|NRXN1_ENST00000406316.2_Silent_p.S151S|NRXN1_ENST00000401669.2_Silent_p.S151S|NRXN1_ENST00000405472.3_Silent_p.S151S|NRXN1_ENST00000406859.3_Silent_p.S151S|NRXN1_ENST00000405581.1_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													4	124					0	0	1	0	0	A	51254959	G	A	51254959	2	1	35	1	0	0	0	0	0	0	0	1	10713	1078	38	1		1	NRXN1	2	51254959	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	23367668	51254959	191944414	9	24741											
SEPT10	151011	broad.mit.edu	37	chr2	110301827	110301828	+	Frame_Shift_Ins	INS	-	-	T													aaatcaaagcacacttctagINStttttttttaataaagtttg							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:110301827_110301828insT	ENST00000356688.4	-	12	1821_1822	c.1506_1507insA	c.(1504-1509)aatagafs	p.NR502fs	SEPT10_ENST00000397712.2_3'UTR|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000437928.1_3'UTR			Q9P0V9	SEP10_HUMAN	septin 10	0					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CACACTTCTAGTTTTTTTTTAA	0.317													9	184	---	---	---	---						T	110301828	-	T	110301827	7	5	35	1	0	1	1	0	0	0	0	0	14114	1044	36	0		0	SEPT10	2	110301827	Frame_Shift_Ins	INS	-	TCGA-Q3-A5QY-01A-12D-A32N-08	59046868	110301827	132897546	10	24742											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	381					0	0	1	0	0	T	170814986	C	T	170814986	3	4	35	1	0	0	0	0	1	0	0	0	16964	768	27	1	3678	1	UBR3	2	170814986	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	60513159	170814986	72384387	11	24743											
COL4A4	1286	broad.mit.edu	37	chr2	227896886	227896886	+	Frame_Shift_Del	DEL	C	C	-													gggggtcctgggggacctttCtttccacgaggacctggagg					rs2229812	by1000genomes	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:227896886delC	ENST00000396625.3	-	39	3891	c.3684delG	c.(3682-3684)aafs	p.K1229fs	COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K1229fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1229	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)		GGGGACCTTTCTTTCCACGAG	0.522													9	437	---	---	---	---						-	227896886	C	-	227896886	7	5	35	1	0	1	0	1	0	0	0	0	3716	912	32	0	1428	0	COL4A4	2	227896886	Frame_Shift_Del	DEL	C	TCGA-Q3-A5QY-01A-12D-A32N-08	57081900	227896886	15302487	12	24744											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	836					0	0	1	0	0	C	47651727	T	C	47651727	3	2	35	1	0	0	0	0	1	0	0	0	14829	1493	52	3	457	3	SMARCC1	3	47651727	Missense_Mutation	SNP	T	TCGA-Q3-A5QY-01A-12D-A32N-08		47651727	150370703	13	24745											
USP4	7375	broad.mit.edu	37	chr3	49321969	49321971	+	In_Frame_Del	DEL	TCT	TCT	-													gtctctcagggccactgtggTcttcttcttcttctgaggct							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:49321969_49321971delTCT	ENST00000351842.4	-	17	2185_2187	c.2177_2179delAGA	c.(2176-2181)acc>a	p.KT726del	USP4_ENST00000265560.4_In_Frame_Del_p.KT773del	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	773					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)		GCCACTGTGGTCTTCTTCTTCTT	0.532													7	529	---	---	---	---						-	49321971	TCT	-	49321969	7	5	35	1	0	1	0	1	0	0	0	0	17131	1667	58	0	591	0	USP4	3	49321969	In_Frame_Del	DEL	TCT	TCGA-Q3-A5QY-01A-12D-A32N-08	1670242	49321969	148700461	14	24746											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	297					0	0	1	0	0	T	50231284	C	T	50231284	3	4	35	1	0	0	0	0	1	0	0	0	6553	536	19	1	566	1	GNAT1	3	50231284	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	909315	50231284	147791146	15	24747											
ERC2	26059	broad.mit.edu	37	chr3	56330169	56330169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctccaggcttttggatgGcaagcctttactttgcaaca	8	11	0	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:56330169G>A	ENST00000288221.6	-	3	1207	c.952C>T	c.(952-954)Cca>Tca	p.P318S		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	318						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.P318S(2)		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)		CTTTTGGATGGCAAGCCTTTA	0.458													6	804					0	0	1	0	0	A	56330169	G	A	56330169	3	1	35	1	0	0	0	0	1	0	0	0	5239	1203	42	2	1971	2	ERC2	3	56330169	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	6098885	56330169	141692261	16	24748											
ATP6V1A	523	broad.mit.edu	37	chr3	113505224	113505224	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagagagtccttgatgcccTttttccgtaagtttgagatg	10	9	0	3			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:113505224T>C	ENST00000273398.3	+	6	818	c.710T>C	c.(709-711)cTt>cCt	p.L237P	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.L204P	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	237					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to 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			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTGATGCCCTTTTTCCGTAA	0.423													5	663					0	0	1	0	0	C	113505224	T	C	113505224	3	2	35	1	0	0	0	0	1	0	0	0	1175	1609	56	3	728	3	ATP6V1A	3	113505224	Missense_Mutation	SNP	T	TCGA-Q3-A5QY-01A-12D-A32N-08	57175055	113505224	84517206	17	24749											
NPNT	255743	broad.mit.edu	37	chr4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-													agccaacaccaattcctactCcaccaccaccaccacccctg							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)del	p.P333del	NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				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)		AATTCCTACTCCACCACCACCAC	0.522													7	358	---	---	---	---						-	106863684	CCA	-	106863682	7	5	35	1	0	1	0	1	0	0	0	0	10638	855	30	0	1161	0	NPNT	4	106863682	In_Frame_Del	DEL	CCA	TCGA-Q3-A5QY-01A-12D-A32N-08		106863682	84290594	18	24750											
ENPEP	2028	broad.mit.edu	37	chr4	111397677	111397677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggattaatagtgggacttgCcgtgggcttgaccagatcgt	14	7	0	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr4:111397677C>T	ENST00000265162.5	+	1	449	c.107C>T	c.(106-108)gCc>gTc	p.A36V		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	36					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)	GTGGGACTTGCCGTGGGCTTG	0.597													6	657					0	0	1	0	0	T	111397677	C	T	111397677	3	4	35	1	0	0	0	0	1	0	0	0	5156	739	26	2	109	2	ENPEP	4	111397677	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	4533995	111397677	79756599	19	24751											
PLK4	0	broad.mit.edu	37	chr4	128807073	128807073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacatttcaccagaaattgCcactcgaagtgcacatggcc	7	13	1	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr4:128807073C>T	ENST00000270861.5	+	5	822	c.548C>T	c.(547-549)gCc>gTc	p.A183V	PLK4_ENST00000515069.1_Missense_Mutation_p.A183V|PLK4_ENST00000514379.1_Missense_Mutation_p.A142V|PLK4_ENST00000507249.1_Missense_Mutation_p.A183V|PLK4_ENST00000513090.1_Missense_Mutation_p.A151V	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	183	Protein kinase.				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						CCAGAAATTGCCACTCGAAGT	0.433													5	323					0	0	1	0	0	T	128807073	C	T	128807073	3	4	35	1	0	0	0	0	1	0	0	0	12146	739	26	2	566	2	PLK4	4	128807073	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	17409396	128807073	62347203	20	24752											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gat>g	p.AD153del	OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						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)					CCATTCACATCAGCAGCAGCAGC	0.34													9	315	---	---	---	---						-	146077125	CAG	-	146077123	7	5	35	1	0	1	0	1	0	0	0	0	11361	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-Q3-A5QY-01A-12D-A32N-08	17270050	146077123	45077153	21	24753											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	355					1	1	1	1	0	A	98207791	C	A	98207791	3	1	35	1	0	0	0	0	1	0	0	0	3345	826	29	2	1343	2	CHD1	5	98207791	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08		98207791	82707469	22	24754											
CDO1	1036	broad.mit.edu	37	chr5	115148957	115148957	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacaagatttcgggtataccTaaaaaaaaacaatatattca	4	7	1	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr5:115148957T>A	ENST00000250535.4	-	2	727		c.e2-2		CDO1_ENST00000502631.1_Splice_Site	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1						inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	CGGGTATACCTAAAAAAAAAC	0.333													4	162					0	0	1	0	0	A	115148957	T	A	115148957	5	1	35	1	0	0	0	0	0	0	1	0	3191	1536	53	5	449	5	CDO1	5	115148957	Splice_Site	SNP	T	TCGA-Q3-A5QY-01A-12D-A32N-08	16941166	115148957	65766303	23	24755											
ZNF608	57507	broad.mit.edu	37	chr5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-													ttcttgattcgcctgtggctCtcctcctcctcctcttcctt							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)del	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290						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)		GCCTGTGGCTCTCCTCCTCCTCC	0.522													8	946	---	---	---	---						-	124079815	CTC	-	124079813	7	5	35	1	0	1	0	1	0	0	0	0	18091	912	32	0	3704	0	ZNF608	5	124079813	In_Frame_Del	DEL	CTC	TCGA-Q3-A5QY-01A-12D-A32N-08	8930856	124079813	56835447	24	24756											
PCDHA3	0	broad.mit.edu	37	chr5	140182986	140182986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaggcgactgtgggccggGcaagcccacgctggtgtgct	17	12	0	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr5:140182986G>A	ENST00000522353.2	+	1	2204	c.2204G>A	c.(2203-2205)gGc>gAc	p.G735D	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G735D|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)			TGTGGGCCGGGCAAGCCCACG	0.657													6	591					0	0	1	0	0	A	140182986	G	A	140182986	3	1	35	1	0	0	0	0	1	0	0	0	11572	1203	42	2	2206	2	PCDHA3	5	140182986	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	16103173	140182986	40732274	25	24757											
TIGD6	81789	broad.mit.edu	37	chr5	149375600	149375600	+	Frame_Shift_Del	DEL	T	T	-													atgttggccaagtttagtgcTtttttccgaatgacagaacc							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr5:149375600delT	ENST00000296736.3	-	2	1086	c.312delA	c.(310-312)aafs	p.K104fs	TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	104	HTH CENPB-type.				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)			AGTTTAGTGCTTTTTTCCGAA	0.423													7	894	---	---	---	---						-	149375600	T	-	149375600	7	5	35	1	0	1	0	1	0	0	0	0	15960	1606	56	0	1257	0	TIGD6	5	149375600	Frame_Shift_Del	DEL	T	TCGA-Q3-A5QY-01A-12D-A32N-08	9192614	149375600	31539660	26	24758											
HIST1H2BJ	8970	broad.mit.edu	37	chr6	27100369	27100369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggccttggacgaaatgCcggtgtcagggtggacctgc	15	11	1	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr6:27100369C>T	ENST00000607124.1	-	1	160	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.G54D|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.G54D			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	p.G54D(2)		breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						GGACGAAATGCCGGTGTCAGG	0.547													6	868					0	0	1	0	0	T	27100369	C	T	27100369	3	4	35	1	0	0	0	0	1	0	0	0	7190	739	26	2	223	2	HIST1H2BJ	6	27100369	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08		27100369	144014698	27	24759											
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-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	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_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													5	858					0	0	1	0	0	G	72398976	A	G	72398976	3	3	35	1	0	0	0	0	1	0	0	0	12287	101	4	3	291	3	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-Q3-A5QY-01A-12D-A32N-08		72398976	86739687	28	24760											
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-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	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													8	947					0	0	1	0	0	G	99913460	A	G	99913460	2	3	35	1	0	0	0	0	0	0	0	1	15088	175	7	3		3	SPDYE3	7	99913460	Silent	SNP	A	TCGA-Q3-A5QY-01A-12D-A32N-08	27514484	99913460	59225203	29	24761											
FOXP2	93986	broad.mit.edu	37	chr7	114269998	114270000	+	In_Frame_Del	DEL	CAG	CAG	-													aacaacaacagcagcaacaaCagcagcagcagcagcaacag							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:114269998_114270000delCAG	ENST00000393500.3	+	11	1130_1132	c.310_312delCAG	c.(310-312)del	p.Q116del	FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del			O15409	FOXP2_HUMAN	forkhead box P2	191	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	p.Q204K(1)|p.Q204Q(1)		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						gcagcaacaacagcagcagcagc	0.498													7	193	---	---	---	---						-	114270000	CAG	-	114269998	7	5	35	1	0	1	0	1	0	0	0	0	6061	479	17	0	683	0	FOXP2	7	114269998	In_Frame_Del	DEL	CAG	TCGA-Q3-A5QY-01A-12D-A32N-08	14356538	114269998	44868665	30	24762											
CAPZA2	830	broad.mit.edu	37	chr7	116528212	116528212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaaaattcatcattcatgCccctcctggagaatttaatg	6	10	3	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:116528212C>T	ENST00000361183.2	+	2	210	c.71C>T	c.(70-72)gCc>gTc	p.A24V	CAPZA2_ENST00000490693.1_Missense_Mutation_p.A24V|CAPZA2_ENST00000458284.2_Missense_Mutation_p.A24V	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	24					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	actin binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			ATCATTCATGCCCCTCCTGGA	0.343													4	218					0	0	1	0	0	T	116528212	C	T	116528212	3	4	35	1	0	0	0	0	1	0	0	0	2659	739	26	2	77	2	CAPZA2	7	116528212	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	2258214	116528212	42610451	31	24763											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_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													9	458					0	0	1	0	0	T	122338787	A	T	122338787	3	4	35	1	0	0	0	0	1	0	0	0	13491	127	5	5	948	5	RNF133	7	122338787	Missense_Mutation	SNP	A	TCGA-Q3-A5QY-01A-12D-A32N-08	5810575	122338787	36799876	32	24764											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000524118.1_Missense_Mutation_p.P385S|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.P533S|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													7	362					0	0	1	0	0	A	37732058	G	A	37732058	3	1	35	1	0	0	0	0	1	0	0	0	12945	1174	41	2	2270	2	RAB11FIP1	8	37732058	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		37732058	108631964	33	24765											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000524874.1_Missense_Mutation_p.R339H|LETM2_ENST00000523983.2_Missense_Mutation_p.R340H|LETM2_ENST00000527710.1_Missense_Mutation_p.R173H|LETM2_ENST00000297720.5_Missense_Mutation_p.R292H|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													6	277					0	0	1	0	0	A	38261966	G	A	38261966	3	1	35	1	0	0	0	0	1	0	0	0	8774	1087	38	1	893	1	LETM2	8	38261966	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	529908	38261966	108102056	34	24766											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	215					0	0	1	0	0	A	33068870	G	A	33068870	2	1	35	1	0	0	0	0	0	0	0	1	14871	1074	38	1		1	SMU1	9	33068870	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		33068870	108144561	35	24767											
RNF20	56254	broad.mit.edu	37	chr9	104309471	104309471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggagcagtctgtatggcgGcacaatcactatcaatgctc	12	10	3	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:104309471G>A	ENST00000389120.3	+	8	1037	c.947G>A	c.(946-948)gGc>gAc	p.G316D		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	316					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	p.G316D(1)		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)		CTGTATGGCGGCACAATCACT	0.428													5	428					0	0	1	0	0	A	104309471	G	A	104309471	3	1	35	1	0	0	0	0	1	0	0	0	13525	1203	42	2	973	2	RNF20	9	104309471	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	71240601	104309471	36903960	36	24768											
DAB2IP	153090	broad.mit.edu	37	chr9	124528949	124528949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggagtaccctgatgaccGcactgcccgcaccctcaccc	9	19	1	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:124528949G>A	ENST00000408936.3	+	9	1819	c.1637G>A	c.(1636-1638)cGc>cAc	p.R546H	DAB2IP_ENST00000259371.2_Missense_Mutation_p.R518H|DAB2IP_ENST00000309989.1_Missense_Mutation_p.R422H			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	546	Ras-GAP.				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						CCTGATGACCGCACTGCCCGC	0.627													6	755					0	0	1	0	0	A	124528949	G	A	124528949	3	1	35	1	0	0	0	0	1	0	0	0	4243	1087	38	1	1587	1	DAB2IP	9	124528949	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	20219478	124528949	16684482	37	24769											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	384					0	0	1	0	0	A	125681305	G	A	125681305	2	1	35	1	0	0	0	0	0	0	0	1	17592	1079	38	1		1	ZBTB26	9	125681305	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	1152356	125681305	15532126	38	24770											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	373					0	0	1	0	0	A	133499056	G	A	133499056	2	1	35	1	0	0	0	0	0	0	0	1	6128	962	34	2		2	FUBP3	9	133499056	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	7817751	133499056	7714375	39	24771											
PDZD7	79955	broad.mit.edu	37	chr10	102789811	102789811	+	Frame_Shift_Del	DEL	G	G	-													cgatgaggctcggattccgcGggggggcccgttcagcagcc							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr10:102789811delG	ENST00000370215.3	-	2	391	c.166delC	c.(166-168)gcfs	p.R56fs	PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	56						cilium|nucleus	protein binding	p.R56C(1)		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)		CGGATTCCGCGGGGGGGCCCG	0.667													7	560	---	---	---	---						-	102789811	G	-	102789811	7	5	35	1	0	1	0	1	0	0	0	0	11751	1116	39	0	1423	0	PDZD7	10	102789811	Frame_Shift_Del	DEL	G	TCGA-Q3-A5QY-01A-12D-A32N-08		102789811	32744936	40	24772											
HTRA1	5654	broad.mit.edu	37	chr10	124248441	124248441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagatcccaacagtttgCgccataaatataactttatc	6	9	0	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr10:124248441C>T	ENST00000368984.3	+	2	624	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	166					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)				CAACAGTTTGCGCCATAAATA	0.453													5	508					0	0	1	0	0	T	124248441	C	T	124248441	3	4	35	1	0	0	0	0	1	0	0	0	7497	768	27	1	502	1	HTRA1	10	124248441	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	21458630	124248441	11286306	41	24773											
TOLLIP	54472	broad.mit.edu	37	chr11	1311608	1311608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggcagtaggggtccatgCgggtcatgccgtaattcttg	15	9	2	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:1311608C>T	ENST00000527886.1	-	3	388	c.8G>A	c.(7-9)cGc>cAc	p.R3H	TOLLIP_ENST00000263646.7_Missense_Mutation_p.R44H|TOLLIP_ENST00000317204.6_Missense_Mutation_p.R72H|TOLLIP_ENST00000527938.1_Intron|TOLLIP_ENST00000525159.1_Intron|TOLLIP_ENST00000528719.1_5'UTR|TOLLIP_ENST00000542915.1_Missense_Mutation_p.R22H			Q9H0E2	TOLIP_HUMAN	toll interacting protein	72					cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		GGGGTCCATGCGGGTCATGCC	0.587													4	189					0	0	1	0	0	T	1311608	C	T	1311608	3	4	35	1	0	0	0	0	1	0	0	0	16410	768	27	1	625	1	TOLLIP	11	1311608	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08		1311608	133694908	42	24774											
OR5D13	390142	broad.mit.edu	37	chr11	55541018	55541018	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctttctggttttcttgttCgtctacacagtcactgtagt	7	10	5	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:55541018C>T	ENST00000361760.1	+	1	105	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	35					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)				TTTTCTTGTTCGTCTACACAG	0.398													5	522					0	0	1	0	0	T	55541018	C	T	55541018	2	4	35	1	0	0	0	0	0	0	0	1	11201	883	31	1		1	OR5D13	11	55541018	Silent	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	54229410	55541018	79465498	43	24775											
SLC22A9	114571	broad.mit.edu	37	chr11	63149668	63149669	+	Frame_Shift_Ins	INS	-	-	A													aaaaaagaactggaggcagcINSacaaaaaaaaaaaccttctc							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:63149668_63149669insA	ENST00000279178.3	+	6	1241_1242	c.992_993insA	c.(991-993)gcafs	p.A331fs	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	331					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGGAGGCAGCACAAAAAAAAA	0.406													10	488	---	---	---	---						A	63149669	-	A	63149668	7	5	35	1	0	1	1	0	0	0	0	0	14516	710	25	0	1014	0	SLC22A9	11	63149668	Frame_Shift_Ins	INS	-	TCGA-Q3-A5QY-01A-12D-A32N-08	7608650	63149668	71856848	44	24776											
SNX32	254122	broad.mit.edu	37	chr11	65618619	65618619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggccgaccgcgtcatgCgcgcccacaagtgtacgcag	14	15	1	0	rs147615662	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:65618619C>T	ENST00000308342.6	+	7	1122	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	233					cell communication|protein transport		phosphatidylinositol binding	p.R233C(1)		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)		CCGCGTCATGCGCGCCCACAA	0.632											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	627					0	0	1	0	0	T	65618619	C	T	65618619	3	4	35	1	0	0	0	0	1	0	0	0	14956	768	27	1	723	1	SNX32	11	65618619	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	2468951	65618619	69387897	45	24777											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	627					0	0	1	0	0	G	93800764	A	G	93800764	3	3	35	1	0	0	0	0	1	0	0	0	7096	217	8	3	929	3	HEPHL1	11	93800764	Missense_Mutation	SNP	A	TCGA-Q3-A5QY-01A-12D-A32N-08	28182145	93800764	41205752	46	24778											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	RNA	INS	-	-	C													acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs36063533		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													10	67	---	---	---	---						C	7080213	-	C	7080212	6	5	35	0	1	1	1	0	0	0	0	0	5118	1722	60	0		0	EMG1	12	7080212	RNA	INS	-	TCGA-Q3-A5QY-01A-12D-A32N-08		7080212	126771683	47	24779											
SCN8A	6334	broad.mit.edu	37	chr12	52200147	52200147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgattggcccgtattgggcGcatcttgcgtctgatcaaag	12	11	3	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr12:52200147G>A	ENST00000354534.5	+	27	5055	c.4877G>A	c.(4876-4878)cGc>cAc	p.R1626H	SCN8A_ENST00000545061.1_Missense_Mutation_p.R1585H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1626					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)	CGTATTGGGCGCATCTTGCGT	0.483													6	623					0	0	1	0	0	A	52200147	G	A	52200147	3	1	35	1	0	0	0	0	1	0	0	0	13978	1087	38	1	4979	1	SCN8A	12	52200147	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	45119935	52200147	81651748	48	24780											
SLC39A5	283375	broad.mit.edu	37	chr12	56629464	56629464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacatgctggggcttttgCggcaccgagggctcaggcca	15	11	1	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr12:56629464C>T	ENST00000266980.4	+	6	1218	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	309					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	p.R308W(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCTTTTGCGGCACCGAGG	0.632													10	1003					0	0	1	0	0	T	56629464	C	T	56629464	3	4	35	1	0	0	0	0	1	0	0	0	14676	759	27	1	943	1	SLC39A5	12	56629464	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	4429317	56629464	77222431	49	24781											
ZFYVE26	23503	broad.mit.edu	37	chr14	68250148	68250148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtctgctggctttgccGggatgagcaaagagcaaggg	18	7	1	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr14:68250148G>A	ENST00000347230.4	-	21	3859	c.3721C>T	c.(3721-3723)Cgg>Tgg	p.R1241W	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R1241W	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1241					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)		TGGCTTTGCCGGGATGAGCAA	0.592													5	384					0	0	1	0	0	A	68250148	G	A	68250148	3	1	35	1	0	0	0	0	1	0	0	0	17726	1115	39	1	3986	1	ZFYVE26	14	68250148	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		68250148	39099392	50	24782											
AVEN	57099	broad.mit.edu	37	chr15	34163233	34163234	+	Splice_Site	DEL	TA	TA	-													ccacataaaatgctgaattcTatatatatatataaaagaaa							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:34163233_34163234delTA	ENST00000306730.3	-	4	646		c.e4-2		AVEN_ENST00000558136.1_Splice_Site	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor						anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		TGCTGAATTCtatatatatata	0.371													8	79	---	---	---	---						-	34163234	TA	-	34163233	8	5	35	1	0	1	0	1	0	0	1	0	1224	1536	53	0	585	0	AVEN	15	34163233	Splice_Site	DEL	TA	TCGA-Q3-A5QY-01A-12D-A32N-08		34163233	68368159	51	24783											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000319669.4_Silent_p.T173T|TMCO5A_ENST00000559502.1_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													5	576					0.000602214	0.000624685	1	1	0	T	38234406	G	T	38234406	2	4	35	1	0	0	0	0	0	0	0	1	16059	1132	40	4		4	TMCO5A	15	38234406	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	4071173	38234406	64296986	52	24784											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	559					0	0	1	0	0	A	43552730	G	A	43552730	3	1	35	1	0	0	0	0	1	0	0	0	15893	1086	38	1	2152	1	TGM5	15	43552730	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	5318324	43552730	58978662	53	24785											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	274					0.014758	0.0150835	1	1	0	A	63632565	C	A	63632565	2	1	35	1	0	0	0	0	0	0	0	1	2531	494	18	2		2	CA12	15	63632565	Silent	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	20079835	63632565	38898827	54	24786											
FAM65A	79567	broad.mit.edu	37	chr16	67578687	67578687	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagtactggaggcagtatgCgagttcagcaggcggtggga	18	7	1	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr16:67578687C>T	ENST00000540839.3	+	17	3100	c.2880C>T	c.(2878-2880)tgC>tgT	p.C960C	FAM65A_ENST00000428437.2_Silent_p.C955C|FAM65A_ENST00000422602.2_Silent_p.C961C|FAM65A_ENST00000042381.4_Silent_p.C941C|FAM65A_ENST00000379312.3_Silent_p.C945C			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	945						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)		AGGCAGTATGCGAGTTCAGCA	0.642													5	408					0	0	1	0	0	T	67578687	C	T	67578687	2	4	35	1	0	0	0	0	0	0	0	1	5634	776	27	1		1	FAM65A	16	67578687	Silent	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08		67578687	22776066	55	24787											
CDH3	1001	broad.mit.edu	37	chr16	68732255	68732255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatctgaacgagtggggcagCcgcttcaagaagctggcaga	14	9	2	3			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr16:68732255C>T	ENST00000264012.4	+	16	2986	c.2442C>T	c.(2440-2442)agC>agT	p.S814S	CDH3_ENST00000429102.2_3'UTR|CDH3_ENST00000581171.1_Silent_p.S759S	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	814					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		AGTGGGGCAGCCGCTTCAAGA	0.632													5	559					0	0	1	0	0	T	68732255	C	T	68732255	2	4	35	1	0	0	0	0	0	0	0	1	3133	738	26	2		2	CDH3	16	68732255	Silent	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	1153568	68732255	21622498	56	24788											
PER1	5187	broad.mit.edu	37	chr17	8049759	8049761	+	In_Frame_Del	DEL	AGG	AGG	-													agaggctgaggaggtggtatAggaggaggaggaggcacatt							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:8049759_8049761delAGG	ENST00000317276.4	-	16	2204_2206	c.1967_1969delCCT	c.(1966-1971)tat>t	p.SY656del	PER1_ENST00000354903.5_In_Frame_Del_p.SY640del|PER1_ENST00000581082.1_In_Frame_Del_p.SY636del|PER1_ENST00000578089.1_5'UTR	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	656	CSNK1E binding domain (By similarity).|Poly-Ser.				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						GAGGTGGTATAGGAGGAGGAGGA	0.586			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					7	389	---	---	---	---						-	8049761	AGG	-	8049759	7	5	35	1	0	1	0	1	0	0	0	0	11776	420	15	0	1935	0	PER1	17	8049759	In_Frame_Del	DEL	AGG	TCGA-Q3-A5QY-01A-12D-A32N-08		8049759	73145451	57	24789											
ARL17A	51326	broad.mit.edu	37	chr17	44594556	44594556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatttgtgccggtgaccccGcataatttcttgatgaattg	9	9	2	3			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:44594556G>A	ENST00000337845.7	-	5	707	c.569C>T	c.(568-570)gCg>gTg	p.A190V	ARL17A_ENST00000445552.2_Silent_p.C101C|LRRC37A2_ENST00000333412.3_Intron|ARL17A_ENST00000329240.4_Silent_p.C101C|LRRC37A2_ENST00000576629.1_Intron			Q8IVW1	ARL17_HUMAN	ADP-ribosylation factor-like 17A	0					protein transport|vesicle-mediated transport	Golgi apparatus	GTP binding			lung(1)	1						CGGTGACCCCGCATAATTTCT	0.413													5	459					0	0	1	0	0	A	44594556	G	A	44594556	3	1	35	1	0	0	0	0	1	0	0	0	930	1079	38	1	747	1	ARL17A	17	44594556	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	36544797	44594556	36600654	58	24790											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000509507.1_Silent_p.Q168Q|CALCOCO2_ENST00000508679.1_Silent_p.Q75Q|CALCOCO2_ENST00000448105.2_Silent_p.Q171Q|CALCOCO2_ENST00000416445.2_Intron	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													6	444					0	0	1	0	0	A	46926637	G	A	46926637	2	1	35	1	0	0	0	0	0	0	0	1	2596	962	34	2		2	CALCOCO2	17	46926637	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	2332081	46926637	34268573	59	24791											
LRRC37A3	374819	broad.mit.edu	37	chr17	62854898	62854898	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattaattattgtccttaccTcaatgaggcagagaagtata	7	6	1	2	rs144617411	by1000genomes	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:62854898T>A	ENST00000584306.1	-	12	5338	c.4809_splice	c.e12+1	p.E1603_splice	LRRC37A3_ENST00000339474.5_Splice_Site_p.E721_splice|LRRC37A3_ENST00000334962.5_Splice_Site_p.E580_splice|LRRC37A3_ENST00000400877.3_Splice_Site_p.E641_splice|LRRC37A3_ENST00000319651.5_Splice_Site_p.E1603_splice	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1603						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						TGTCCTTACCTCAATGAGGCA	0.388													4	154					0	0	1	0	0	A	62854898	T	A	62854898	5	1	35	1	0	0	0	0	0	0	1	0	9038	1565	54	5	108	5	LRRC37A3	17	62854898	Splice_Site	SNP	T	TCGA-Q3-A5QY-01A-12D-A32N-08	15928261	62854898	18340312	60	24792											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74625165	74625165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctcagatttgaagttggCggccttcagtctttggtttc	12	8	3	2	rs145229994		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:74625165C>T	ENST00000156626.7	-	2	959	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	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	254					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						TTGAAGTTGGCGGCCTTCAGT	0.547													5	366					0	0	1	0	0	T	74625165	C	T	74625165	3	4	35	1	0	0	0	0	1	0	0	0	15279	768	27	1	1074	1	ST6GALNAC1	17	74625165	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	11770267	74625165	6570045	61	24793											
SLC25A10	1468	broad.mit.edu	37	chr17	79674202	79674202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaatcaaagccaatgtcGccaaagctgaggcggagaag	13	8	1	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:79674202G>A	ENST00000571730.1	+	5	660	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	SLC25A10_ENST00000541223.1_Missense_Mutation_p.A177T|MRPL12_ENST00000333676.3_Missense_Mutation_p.A177T			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)	AGCCAATGTCGCCAAAGCTGA	0.622													5	545					0	0	1	0	0	A	79674202	G	A	79674202	3	1	35	1	0	0	0	0	1	0	0	0	14527	1087	38	1		1	SLC25A10	17	79674202	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	5049037	79674202	1521008	62	24794											
RFNG	5986	broad.mit.edu	37	chr17	80008334	80008334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtggtccaggctgggccGccccaggtagacgtcctggc	18	13	0	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:80008334G>A	ENST00000310496.4	-	4	524	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	RFNG_ENST00000584838.1_5'UTR|RFNG_ENST00000429557.3_Missense_Mutation_p.R47W	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	173					cell differentiation|nervous system development|organ morphogenesis|pattern specification process	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	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)			AGGCTGGGCCGCCCCAGGTAG	0.617													5	310					0	0	1	0	0	A	80008334	G	A	80008334	3	1	35	1	0	0	0	0	1	0	0	0	13304	1086	38	1	498	1	RFNG	17	80008334	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	334132	80008334	1186876	63	24795											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	445					0	0	1	0	0	A	29122723	G	A	29122723	3	1	35	1	0	0	0	0	1	0	0	0	4803	1087	38	1	2296	1	DSG2	18	29122723	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		29122723	48954525	64	24796											
ZNF780A	284323	broad.mit.edu	37	chr19	40581260	40581260	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggccttcccacattccctGcattcaaagggtttctcacc	6	15	2	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:40581260G>T	ENST00000450241.2	-	6	1298	c.987C>A	c.(985-987)tgC>tgA	p.C329*	ZNF780A_ENST00000595687.2_Nonsense_Mutation_p.C363*|ZNF780A_ENST00000594395.1_Nonsense_Mutation_p.C364*|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Nonsense_Mutation_p.C363*|ZNF780A_ENST00000455521.1_Nonsense_Mutation_p.C364*			O75290	Z780A_HUMAN	zinc finger protein 780A	363					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)					CACATTCCCTGCATTCAAAGG	0.413													12	333					2.68362e-12	2.86941e-12	1	1	0	T	40581260	G	T	40581260	4	4	35	1	0	0	0	0	0	1	0	0	18201	1311	46	2	967	2	ZNF780A	19	40581260	Nonsense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		40581260	18547723	65	24797											
SYMPK	8189	broad.mit.edu	37	chr19	46351042	46351042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggtggtcacgagggatgCggtccaggctgatatcatgc	17	8	2	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:46351042C>T	ENST00000245934.7	-	7	888	c.644G>A	c.(643-645)cGc>cAc	p.R215H		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	215					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)		ACGAGGGATGCGGTCCAGGCT	0.602													4	290					0	0	1	0	0	T	46351042	C	T	46351042	3	4	35	1	0	0	0	0	1	0	0	0	15496	768	27	1	3264	1	SYMPK	19	46351042	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	5769782	46351042	12777941	66	24798											
CCDC8	83987	broad.mit.edu	37	chr19	46914959	46914959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctctggtcagctggggccTctgccctctgattatctgca	10	14	5	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:46914959T>C	ENST00000307522.3	-	1	1882	c.1109A>G	c.(1108-1110)gAg>gGg	p.E370G		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	370						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)		AGCTGGGGCCTCTGCCCTCTG	0.607													7	968					0	0	1	0	0	C	46914959	T	C	46914959	3	2	35	1	0	0	0	0	1	0	0	0	2873	1551	54	3	511	3	CCDC8	19	46914959	Missense_Mutation	SNP	T	TCGA-Q3-A5QY-01A-12D-A32N-08	563917	46914959	12214024	67	24799											
NUCB1	4924	broad.mit.edu	37	chr19	49425109	49425111	+	In_Frame_Del	DEL	AGC	AGC	-													gctgcacatggagcagcggaAgcagcagcagcagcagcagc							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:49425109_49425111delAGC	ENST00000405315.4	+	12	1533_1535	c.1199_1201delAGC	c.(1198-1203)aag>a	p.KQ400del	NUCB1_ENST00000263273.5_In_Frame_Del_p.KQ400del|NUCB1_ENST00000407032.1_In_Frame_Del_p.KQ400del|NUCB1_ENST00000485798.1_3'UTR	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	400						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		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;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		Gagcagcggaagcagcagcagca	0.64													7	204	---	---	---	---						-	49425111	AGC	-	49425109	7	5	35	1	0	1	0	1	0	0	0	0	10766	72	3	0	1241	0	NUCB1	19	49425109	In_Frame_Del	DEL	AGC	TCGA-Q3-A5QY-01A-12D-A32N-08	2510150	49425109	9703874	68	24800											
BPI	671	broad.mit.edu	37	chr20	36954739	36954739	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgccacacctgtctgtgCagcccaccggccttaccttc	7	21	1	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr20:36954739C>T	ENST00000262865.4	+	10	1167	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	360					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CCTGTCTGTGCAGCCCACCGG	0.587													4	163					0	0	1	0	0	T	36954739	C	T	36954739	4	4	35	1	0	0	0	0	0	1	0	0	1492	711	25	2	1116	2	BPI	20	36954739	Nonsense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08		36954739	26070781	69	24801											
NCOA3	8202	broad.mit.edu	37	chr20	46281698	46281698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttcccagcagcagtttgCccaccaggggaatcctgcag	10	14	0	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr20:46281698C>T	ENST00000372004.3	+	22	4349	c.4133C>T	c.(4132-4134)gCc>gTc	p.A1378V	NCOA3_ENST00000371997.3_Missense_Mutation_p.A1373V|NCOA3_ENST00000341724.6_Missense_Mutation_p.A1308V|NCOA3_ENST00000371998.3_Missense_Mutation_p.A1382V	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	1382					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						CAGCAGTTTGCCCACCAGGGG	0.478													5	546					0	0	1	0	0	T	46281698	C	T	46281698	3	4	35	1	0	0	0	0	1	0	0	0	10277	739	26	2	4253	2	NCOA3	20	46281698	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	9326959	46281698	16743822	70	24802											
ZNF831	128611	broad.mit.edu	37	chr20	57768653	57768653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatcccagaagcaggatgCcgatcccggggaggtgccag	15	12	1	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr20:57768653C>T	ENST00000371030.2	+	1	2579	c.2579C>T	c.(2578-2580)gCc>gTc	p.A860V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	860						intracellular	nucleic acid binding|zinc ion binding	p.A860V(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)					AAGCAGGATGCCGATCCCGGG	0.652													5	302					0	0	1	0	0	T	57768653	C	T	57768653	3	4	35	1	0	0	0	0	1	0	0	0	18232	739	26	2	2581	2	ZNF831	20	57768653	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	11486955	57768653	5256867	71	24803											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380800.3_Silent_p.E685E|BRWD1_ENST00000333229.2_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													10	613					0	0	1	0	0	C	40630429	T	C	40630429	2	2	35	1	0	0	0	0	0	0	0	1	1527	1606	56	3		3	BRWD1	21	40630429	Silent	SNP	T	TCGA-Q3-A5QY-01A-12D-A32N-08		40630429	7499466	72	24804											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	RP1-37E16.12_ENST00000455236.1_RNA	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													6	318					0	0	1	0	0	T	38120997	C	T	38120997	4	4	35	1	0	0	0	0	0	1	0	0	16614	479	17	2	2452	2	TRIOBP	22	38120997	Nonsense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08		38120997	13183569	73	24805											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	520					0	0	1	0	0	T	50487686	C	T	50487686	3	4	35	1	0	0	0	0	1	0	0	0	16795	884	31	1	2295	1	TTLL8	22	50487686	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	12366689	50487686	816880	74	24806											
CNKSR2	22866	broad.mit.edu	37	chrX	21450761	21450761	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaacagaaaatctaaaaaCcctttctcacaagttgaatg	6	8	2	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:21450761C>A	ENST00000425654.2	+	3	740	c.260C>A	c.(259-261)aCc>aAc	p.T87N	CNKSR2_ENST00000279451.4_Missense_Mutation_p.T87N|CNKSR2_ENST00000543067.1_Missense_Mutation_p.T87N|CNKSR2_ENST00000379510.3_Missense_Mutation_p.T87N	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	87	CRIC.				regulation of signal transduction	cytoplasm|membrane	protein binding	p.T87N(2)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AATCTAAAAACCCTTTCTCAC	0.328													10	251					0.105934	0.106702	1	1	0	A	21450761	C	A	21450761	3	1	35	1	0	0	0	0	1	0	0	0	3630	507	18	2	270	2	CNKSR2	23	21450761	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08		21450761	133819799	75	24807											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000378677.2_Silent_p.Q3264Q|DMD_ENST00000474231.1_Silent_p.Q808Q|DMD_ENST00000359836.1_Silent_p.Q808Q|DMD_ENST00000378723.3_Silent_p.Q200Q|DMD_ENST00000378707.3_Silent_p.Q808Q|DMD_ENST00000378702.4_Silent_p.Q200Q|DMD_ENST00000378680.2_Silent_p.Q200Q|DMD_ENST00000361471.4_Silent_p.Q200Q|DMD_ENST00000541735.1_Silent_p.Q808Q|DMD_ENST00000343523.2_Silent_p.Q808Q	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	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													6	164					0	0	1	0	0	C	31222081	T	C	31222081	2	2	35	1	0	0	0	0	0	0	0	1	4608	1490	52	3		3	DMD	23	31222081	Silent	SNP	T	TCGA-Q3-A5QY-01A-12D-A32N-08	9771320	31222081	124048479	76	24808											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		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						GGAGCCTCCCAATACTGGAGT	0.642													8	333					0	0	1	0	0	G	37028425	A	G	37028425	3	3	35	1	0	0	0	0	1	0	0	0	5607	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-Q3-A5QY-01A-12D-A32N-08	5806344	37028425	118242135	77	24809											
PGAM4	441531	broad.mit.edu	37	chrX	77224547	77224547	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcagagagaccctccaCatgcttggcaatgccctgga	9	14	2	2	rs148072662		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	312					0	0	1	0	0	G	77224547	C	G	77224547	3	3	35	1	0	0	0	0	1	0	0	0	11823	478	17	5	179	5	PGAM4	23	77224547	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	40196122	77224547	78046013	78	24810											
GUCY2F	2986	broad.mit.edu	37	chrX	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-													ggaaggggcttcatgaagccTtttttcccaatcagccagaa							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					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						TCATGAAGCCTTTTTTCCCAA	0.418													7	538	---	---	---	---						-	108619355	T	-	108619355	7	5	35	1	0	1	0	1	0	0	0	0	6939	1606	56	0	142	0	GUCY2F	23	108619355	Frame_Shift_Del	DEL	T	TCGA-Q3-A5QY-01A-12D-A32N-08	31394808	108619355	46651205	79	24811											
MAGEC1	9947	broad.mit.edu	37	chrX	140994915	140994915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagggggaggactccctGtctcctcactactttcctca	8	16	4	0	rs111773662	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:140994915G>A	ENST00000285879.4	+	4	2011	c.1725G>A	c.(1723-1725)ctG>ctA	p.L575L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	575							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)					AGGACTCCCTGTCTCCTCACT	0.597										HNSCC(15;0.026)			7	1024					0	0	1	0	0	A	140994915	G	A	140994915	2	1	35	1	0	0	0	0	0	0	0	1	9230	1364	48	2		2	MAGEC1	23	140994915	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	32375560	140994915	14275645	80	24812											
MAMLD1	10046	broad.mit.edu	37	chrX	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-													gtaatcttctaagccagcaaCagcagcagcagcagcagcag							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)del	p.Q502del	MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532													9	161	---	---	---	---						-	149639327	CAG	-	149639325	7	5	35	1	0	1	0	1	0	0	0	0	9258	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Del	DEL	CAG	TCGA-Q3-A5QY-01A-12D-A32N-08	8644410	149639325	5631235	81	24813											
CD99L2	83692	broad.mit.edu	37	chrX	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-													ctcagatccgggctggttcgGgcggcggcggcggctctgca					rs7877654	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccc>cc	p.PP256del	CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				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)					GGCTGGTTCGGGCGGCGGCGGCG	0.611													9	588	---	---	---	---						-	149937528	GGC	-	149937526	7	5	35	1	0	1	0	1	0	0	0	0	3073	1232	43	0	22	0	CD99L2	23	149937526	In_Frame_Del	DEL	GGC	TCGA-Q3-A5QY-01A-12D-A32N-08	298201	149937526	5333034	82	24814											
PASD1	139135	broad.mit.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-													aagccgtgtacgttgaacccGctgctgctgctgctgctgct							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)del	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)		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)					CGTTGAACCCgctgctgctgctg	0.433													15	268	---	---	---	---						-	150817144	GCT	-	150817142	7	5	35	1	0	1	0	1	0	0	0	0	11518	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-Q3-A5QY-01A-12D-A32N-08	879616	150817142	4453418	83	24815											
CALML6	163688	broad.mit.edu	37	chr1	1848280	1848280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagagcgagctgagggcgGcattccgtgtctttgacaaa	15	8	1	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:1848280G>A	ENST00000307786.3	+	4	797	c.343G>A	c.(343-345)Gca>Aca	p.A115T	CALML6_ENST00000462293.1_3'UTR	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	115	EF-hand 3.					cytoplasm|nucleus	calcium ion binding	p.A115T(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGAGGGCGGCATTCCGTGT	0.597													6	595					0	0	1	0	0	A	1848280	G	A	1848280	3	1	36	1	0	0	0	0	1	0	0	0	2608	1203	42	2	357	2	CALML6	1	1848280	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		1848280	247402341	1	24816											
CCDC27	148870	broad.mit.edu	37	chr1	3673345	3673345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgagttcgattacttgcGgaagaggagaaaatcccaga	12	8	0	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:3673345G>A	ENST00000294600.2	+	4	686	c.602G>A	c.(601-603)cGg>cAg	p.R201Q		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	201										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)		GATTACTTGCGGAAGAGGAGA	0.552													4	317					0	0	1	0	0	A	3673345	G	A	3673345	3	1	36	1	0	0	0	0	1	0	0	0	2820	1116	39	1	616	1	CCDC27	1	3673345	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	1825065	3673345	245577276	2	24817											
KIF1B	23095	broad.mit.edu	37	chr1	10386207	10386207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtgaacgagcgccttgCcgaccgcacaccctccccca	9	19	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:10386207C>T	ENST00000377086.1	+	27	2916	c.2714C>T	c.(2713-2715)gCc>gTc	p.A905V	KIF1B_ENST00000377081.1_Missense_Mutation_p.A905V|KIF1B_ENST00000263934.6_Missense_Mutation_p.A859V			O60333	KIF1B_HUMAN	kinesin family member 1B	905					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)		GAGCGCCTTGCCGACCGCACA	0.542													6	620					0	0	1	0	0	T	10386207	C	T	10386207	3	4	36	1	0	0	0	0	1	0	0	0	8326	739	26	2	4159	2	KIF1B	1	10386207	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	6712862	10386207	238864414	3	24818											
VPS13D	55187	broad.mit.edu	37	chr1	12371650	12371650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccatagaggaatttatgCggccttatgatttacaagat	8	7	0	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:12371650C>T	ENST00000358136.3	+	28	6920	c.6790C>T	c.(6790-6792)Cgg>Tgg	p.R2264W	VPS13D_ENST00000356315.4_Missense_Mutation_p.R2264W	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2264					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)		GGAATTTATGCGGCCTTATGA	0.438													5	478					0	0	1	0	0	T	12371650	C	T	12371650	3	4	36	1	0	0	0	0	1	0	0	0	17252	759	27	1	6896	1	VPS13D	1	12371650	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	1985443	12371650	236878971	4	24819											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357730.2_Silent_p.F229F|SLC6A9_ENST00000372307.3_Silent_p.F145F|SLC6A9_ENST00000372306.3_Silent_p.F210F|SLC6A9_ENST00000475075.2_Silent_p.F99F|SLC6A9_ENST00000360584.2_Silent_p.F283F|SLC6A9_ENST00000537678.1_Silent_p.F145F	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													109	595					0	0	1	0	0	G	44468618	A	G	44468618	2	3	36	1	0	0	0	0	0	0	0	1	14746	127	5	3		3	SLC6A9	1	44468618	Silent	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	32096968	44468618	204782003	5	24820											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000438567.2_Intron	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													72	592					0	0	1	0	0	T	48694800	A	T	48694800	3	4	36	1	0	0	0	0	1	0	0	0	14727	275	10	5	379	5	SLC5A9	1	48694800	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	4226182	48694800	200555821	6	24821											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-													ggccagaaggagcggcccccGcagcagcagcagcagcagca					rs113832855		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccg>cc	p.PQ37del	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	37					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						AGCGGCCCCCgcagcagcagcag	0.7													11	201	---	---	---	---						-	77334279	GCA	-	77334277	7	5	36	1	0	1	0	1	0	0	0	0	15283	1074	38	0	117	0	ST6GALNAC5	1	77334277	In_Frame_Del	DEL	GCA	TCGA-RB-A7B8-01A-12D-A33T-08	28639477	77334277	171916344	7	24822											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000353414.4_Missense_Mutation_p.P416T|COL11A1_ENST00000370096.3_Missense_Mutation_p.P455T|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													42	316					4.67007e-22	5.0197e-22	1	1	0	T	103483426	G	T	103483426	3	4	36	1	0	0	0	0	1	0	0	0	3690	1174	41	2	4285	2	COL11A1	1	103483426	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	26149149	103483426	145767195	8	24823											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													81	249					0	0	1	0	0	A	110607330	G	A	110607330	3	1	36	1	0	0	0	0	1	0	0	0	553	1145	40	1	570	1	ALX3	1	110607330	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	7123904	110607330	138643291	9	24824											
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-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	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													6	940					0	0	1	0	0	T	151372581	C	T	151372581	4	4	36	1	0	0	0	0	0	1	0	0	12728	760	27	1	271	1	PSMB4	1	151372581	Nonsense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	40765251	151372581	97878040	10	24825											
HRNR	388697	broad.mit.edu	37	chr1	152187485	152187485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggccacggctggaagaaCgacctgagccagacccatgt	13	12	0	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:152187485C>T	ENST00000368801.2	-	3	6695	c.6620G>A	c.(6619-6621)cGt>cAt	p.R2207H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2207					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)			GCTGGAAGAACGACCTGAGCC	0.597													21	1792					0	0	1	0	0	T	152187485	C	T	152187485	3	4	36	1	0	0	0	0	1	0	0	0	7400	536	19	1	1936	1	HRNR	1	152187485	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	814904	152187485	97063136	11	24826											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_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				207	1677					0	0	1	0	0	T	152277587	C	T	152277587	3	4	36	1	0	0	0	0	1	0	0	0	5955	893	31	1	2414	1	FLG	1	152277587	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	90102	152277587	96973034	12	24827											
HSD17B7	51478	broad.mit.edu	37	chr1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctggacatcatctcgcaGtgcaaggaaatctaatttca	7	10	5	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:162769603G>A	ENST00000367917.3	+	5	586	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	TCATCTCGCAGTGCAAGGAAA	0.458													6	204					0	0	1	0	0	A	162769603	G	A	162769603	3	1	36	1	0	0	0	0	1	0	0	0	7429	1029	36	2	536	2	HSD17B7	1	162769603	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	10492016	162769603	86481018	13	24828											
TMCO1	54499	broad.mit.edu	37	chr1	165712550	165712551	+	Splice_Site	INS	-	-	A													accactctaccatcaaatctINSaaaagaaaaaaaaaaaaaaa							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:165712550_165712551insA	ENST00000367881.5	-	6	752		c.e6-2		TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							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)					CCATCAAATCTAAAAGAAAAAA	0.381													7	259	---	---	---	---						A	165712551	-	A	165712550	8	5	36	1	0	1	1	0	0	0	1	0	16055	1536	53	0	252	0	TMCO1	1	165712550	Splice_Site	INS	-	TCGA-RB-A7B8-01A-12D-A33T-08	2942947	165712550	83538071	14	24829											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000367570.1_Missense_Mutation_p.R668C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R275C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R668C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R619C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R619C|CACNA1E_ENST00000367573.2_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													110	483					0	0	1	0	0	T	181690939	C	T	181690939	3	4	36	1	0	0	0	0	1	0	0	0	2560	652	23	1	2064	1	CACNA1E	1	181690939	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	15978389	181690939	67559682	15	24830											
SMG7	9887	broad.mit.edu	37	chr1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A													aatgcagcagcagcctctagINSaaaaaaaaatgaagcctttt							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:183515266_183515267insA	ENST00000367537.3	+	18	2680_2681	c.2485_2486insA	c.(2485-2487)aaafs	p.K829fs	SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.?(1)		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						GCAGCCTCTAGAAAAAAAAATG	0.45													7	389	---	---	---	---						A	183515267	-	A	183515266	7	5	36	1	0	1	1	0	0	0	0	0	14852	943	33	0	2602	0	SMG7	1	183515266	Frame_Shift_Ins	INS	-	TCGA-RB-A7B8-01A-12D-A33T-08	1824327	183515266	65735355	16	24831											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000460687.1_Nonsense_Mutation_p.R126*|KLHDC8A_ENST00000537168.1_Nonsense_Mutation_p.R147*	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													54	269					0	0	1	0	0	A	205307704	G	A	205307704	4	1	36	1	0	0	0	0	0	1	0	0	8405	1153	40	1	282	1	KLHDC8A	1	205307704	Nonsense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	21792438	205307704	43942917	17	24832											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	382					0	0	1	0	0	G	228646127	T	G	228646127	2	3	36	1	0	0	0	0	0	0	0	1	7224	1770	62	3		3	HIST3H2BB	1	228646127	Silent	SNP	T	TCGA-RB-A7B8-01A-12D-A33T-08	23338423	228646127	20604494	18	24833											
APOB	338	broad.mit.edu	37	chr2	21247750	21247751	+	Splice_Site	INS	-	-	A													taagggagtctgggcgatctINSaaaaaaaaaccaacgtctgg					rs35442885		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:21247750_21247751insA	ENST00000399256.4	-	17	2421		c.e17-2		APOB_ENST00000233242.1_Intron			P04114	APOB_HUMAN	apolipoprotein B						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)	CTGGGCGATCTAAAAAAAAACC	0.53													7	241	---	---	---	---						A	21247751	-	A	21247750	8	5	36	1	0	1	1	0	0	0	1	0	782	1537	53	0		0	APOB	2	21247750	Splice_Site	INS	-	TCGA-RB-A7B8-01A-12D-A33T-08		21247750	221951623	19	24834											
OTOF	9381	broad.mit.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-													tctggctcctccgcagtgccCttcttcttcttcttcttctc							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)del	p.K1310del	OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				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)					CCGCAGTGCCcttcttcttcttc	0.576													7	292	---	---	---	---						-	26693556	CTT	-	26693554	7	5	36	1	0	1	0	1	0	0	0	0	11350	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-RB-A7B8-01A-12D-A33T-08	5445804	26693554	216505819	20	24835											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	269					0	0	1	0	0	C	113514269	A	C	113514269	3	2	36	1	0	0	0	0	1	0	0	0	3466	69	3	3	1582	3	CKAP2L	2	113514269	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	86820715	113514269	129685104	21	24836											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	227					0	0	1	0	0	T	182360534	C	T	182360534	2	4	36	1	0	0	0	0	0	0	0	1	7922	535	19	1		1	ITGA4	2	182360534	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	68846265	182360534	60838839	22	24837											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000347401.3_Missense_Mutation_p.A2353T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1947T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2348T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2354T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2348T	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													8	918					0	0	1	0	0	T	238253001	C	T	238253001	3	4	36	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	23	24838											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	317					0	0	1	0	0	A	242695366	G	A	242695366	3	1	36	1	0	0	0	0	1	0	0	0	4237	1145	40	1	1273	1	D2HGDH	2	242695366	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	4442365	242695366	504007	24	24839											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								7	280					0	0	1	0	0	T	9100157	C	T	9100157	5	4	36	1	0	0	0	0	0	0	1	0	15203	579	20	2	2597	2	SRGAP3	3	9100157	Splice_Site	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		9100157	188922273	25	24840											
RBM15B	29890	broad.mit.edu	37	chr3	51430822	51430824	+	In_Frame_Del	DEL	CCA	CCA	-													catggggctgaggaacggggCcaccaccaccaccaccacga					rs147738916	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:51430822_51430824delCCA	ENST00000323686.4	+	1	2092_2094	c.1992_1994delCCA	c.(1990-1995)ggc>gg	p.GH664del		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	664	His-rich.				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)		AGGAACGGGGCCACCACCACCAC	0.635													7	150	---	---	---	---						-	51430824	CCA	-	51430822	7	5	36	1	0	1	0	1	0	0	0	0	13169	726	26	0	1994	0	RBM15B	3	51430822	In_Frame_Del	DEL	CCA	TCGA-RB-A7B8-01A-12D-A33T-08	42330665	51430822	146591608	26	24841											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000475616.1_Missense_Mutation_p.S647L|MYLK_ENST00000360304.3_Missense_Mutation_p.S647L|MYLK_ENST00000359169.1_Missense_Mutation_p.S647L|MYLK_ENST00000346322.5_Missense_Mutation_p.S578L			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													12	1473					0	0	1	0	0	A	123428605	G	A	123428605	3	1	36	1	0	0	0	0	1	0	0	0	10104	1294	45	2	3888	2	MYLK	3	123428605	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	71997783	123428605	74593825	27	24842											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000321464.5_Silent_p.A704A|ZBTB38_ENST00000441582.2_Silent_p.A703A			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													36	496					0	0	1	0	0	T	141163339	C	T	141163339	2	4	36	1	0	0	0	0	0	0	0	1	17598	639	23	1		1	ZBTB38	3	141163339	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	17734734	141163339	56859091	28	24843											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:170198095G>A	ENST00000231706.4	-	7	2291	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	659						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													5	582					0	0	1	0	0	A	170198095	G	A	170198095	3	1	36	1	0	0	0	0	1	0	0	0	14751	1087	38	1	347	1	SLC7A14	3	170198095	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	29034756	170198095	27824335	29	24844											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			106	202					0	0	1	0	0	T	178952072	A	T	178952072	3	4	36	1	0	0	0	0	1	0	0	0	11961	101	4	5	3205	5	PIK3CA	3	178952072	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	8753977	178952072	19070358	30	24845											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000392438.3_Missense_Mutation_p.K596N|OPA1_ENST00000361828.2_Missense_Mutation_p.K614N|OPA1_ENST00000361715.2_Missense_Mutation_p.K615N|OPA1_ENST00000361908.3_Missense_Mutation_p.K633N	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													17	325					0	0	1	0	0	C	193366601	A	C	193366601	3	2	36	1	0	0	0	0	1	0	0	0	10919	69	3	3	2035	3	OPA1	3	193366601	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	14414529	193366601	4655829	31	24846											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	63					0	0	1	0	0	T	8582937	C	T	8582937	2	4	36	1	0	0	0	0	0	0	0	1	6750	639	23	1		1	GPR78	4	8582937	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		8582937	182571339	32	24847											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													48	278					0	0	1	0	0	T	41984154	C	T	41984154	2	4	36	1	0	0	0	0	0	0	0	1	4295	547	19	1		1	DCAF4L1	4	41984154	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	33401217	41984154	149170122	33	24848											
SCFD2	152579	broad.mit.edu	37	chr4	53773693	53773693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatgtgttcaatatcaacGgaatctggcctctcgggatg	11	9	4	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:53773693G>A	ENST00000401642.3	-	7	1906	c.1773C>T	c.(1771-1773)tcC>tcT	p.S591S	SCFD2_ENST00000388940.4_Intron	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	591					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)			CAATATCAACGGAATCTGGCC	0.403													5	444					0	0	1	0	0	A	53773693	G	A	53773693	2	1	36	1	0	0	0	0	0	0	0	1	13943	1103	39	1		1	SCFD2	4	53773693	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	11789539	53773693	137380583	34	24849											
POLR2B	5431	broad.mit.edu	37	chr4	57876600	57876600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctattggtagagacgGcaagctagcaaaaccaagac	9	10	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:57876600G>A	ENST00000381227.1	+	12	1891	c.1478G>A	c.(1477-1479)gGc>gAc	p.G493D	POLR2B_ENST00000431623.2_Missense_Mutation_p.G418D|POLR2B_ENST00000441246.2_Missense_Mutation_p.G486D|POLR2B_ENST00000314595.5_Missense_Mutation_p.G493D|POLR2B_ENST00000510355.1_3'UTR			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	493					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)					GGTAGAGACGGCAAGCTAGCA	0.423													5	407					0	0	1	0	0	A	57876600	G	A	57876600	3	1	36	1	0	0	0	0	1	0	0	0	12263	1203	42	2	1520	2	POLR2B	4	57876600	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	4102907	57876600	133277676	35	24850											
METAP1	23173	broad.mit.edu	37	chr4	99982344	99982344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccagatggttggactgCggtgacaagagacggaaagc	16	8	0	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:99982344C>T	ENST00000296411.6	+	11	1171	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	METAP1_ENST00000544031.1_Missense_Mutation_p.A296V	NM_015143.2	NP_055958.2	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	346					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)		GGTTGGACTGCGGTGACAAGA	0.488													5	501					0	0	1	0	0	T	99982344	C	T	99982344	3	4	36	1	0	0	0	0	1	0	0	0	9536	768	27	1	1079	1	METAP1	4	99982344	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	42105744	99982344	91171932	36	24851											
PAPSS1	9061	broad.mit.edu	37	chr4	108576017	108576017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctttatcttcatgagtcGcagtcagaactataggtact	7	9	4	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:108576017G>A	ENST00000265174.4	-	8	1207	c.935C>T	c.(934-936)gCg>gTg	p.A312V	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	312					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)		TTCATGAGTCGCAGTCAGAAC	0.458													5	349					0	0	1	0	0	A	108576017	G	A	108576017	3	1	36	1	0	0	0	0	1	0	0	0	11481	1087	38	1	959	1	PAPSS1	4	108576017	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	8593673	108576017	82578259	37	24852											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000448662.2_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													8	1007					0	0	1	0	0	A	186544317	G	A	186544317	3	1	36	1	0	0	0	0	1	0	0	0	14982	1203	42	2	1084	2	SORBS2	4	186544317	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	77968300	186544317	4609959	38	24853											
PLEKHG4B	153478	broad.mit.edu	37	chr5	155050	155050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacagctgccagctgaccGcagacctcgacggctccttt	10	15	0	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:155050G>A	ENST00000283426.6	+	6	1035	c.985G>A	c.(985-987)Gca>Aca	p.A329T		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	329					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)		CCAGCTGACCGCAGACCTCGA	0.587													4	215					0	0	1	0	0	A	155050	G	A	155050	3	1	36	1	0	0	0	0	1	0	0	0	12120	1087	38	1	1007	1	PLEKHG4B	5	155050	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		155050	180760210	39	24854											
PAPD7	11044	broad.mit.edu	37	chr5	6748592	6748592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggaatgacgttggccGgagctcctatggcgccatgc	15	11	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:6748592G>A	ENST00000230859.6	+	8	854	c.725G>A	c.(724-726)cGg>cAg	p.R242Q		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	242					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						GACGTTGGCCGGAGCTCCTAT	0.527													6	934					0	0	1	0	0	A	6748592	G	A	6748592	3	1	36	1	0	0	0	0	1	0	0	0	11473	1116	39	1	751	1	PAPD7	5	6748592	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	6593542	6748592	174166668	40	24855											
SEMA5A	9037	broad.mit.edu	37	chr5	9054317	9054317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatatagtgtccaccgccGcatgttgctgaacattttgt	8	11	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:9054317G>A	ENST00000382496.5	-	19	3236	c.2571C>T	c.(2569-2571)tgC>tgT	p.C857C		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	857	TSP type-1 6.				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						GTCCACCGCCGCATGTTGCTG	0.552													4	193					0	0	1	0	0	A	9054317	G	A	9054317	2	1	36	1	0	0	0	0	0	0	0	1	14091	1079	38	1		1	SEMA5A	5	9054317	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	2305725	9054317	171860943	41	24856											
RASGRF2	5924	broad.mit.edu	37	chr5	80409566	80409568	+	In_Frame_Del	DEL	CCA	CCA	-													cctgacaacttccagcagtcCcaccaccaccacccagagtc							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:80409566_80409568delCCA	ENST00000265080.4	+	15	2364_2366	c.2297_2299delCCA	c.(2296-2301)ccc>c	p.PT766del	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	766					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)		TCCAGCAGTCCCACCACCACCAC	0.562													7	325	---	---	---	---						-	80409568	CCA	-	80409566	7	5	36	1	0	1	0	1	0	0	0	0	13125	623	22	0	2355	0	RASGRF2	5	80409566	In_Frame_Del	DEL	CCA	TCGA-RB-A7B8-01A-12D-A33T-08	71355249	80409566	100505694	42	24857											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359660.5_Intron|FBXL17_ENST00000542267.1_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													29	202					0	0	1	0	0	G	107216677	A	G	107216677	3	3	36	1	0	0	0	0	1	0	0	0	5746	290	10	3		3	FBXL17	5	107216677	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	26807111	107216677	73698583	43	24858											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.1	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													37	134					0	0	1	0	0	A	140257259	G	A	140257259	2	1	36	1	0	0	0	0	0	0	0	1	11569	1103	39	1		1	PCDHA12	5	140257259	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	33040582	140257259	40658001	44	24859											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													107	692					0	0	1	0	0	T	140581503	C	T	140581503	3	4	36	1	0	0	0	0	1	0	0	0	11583	768	27	1	2158	1	PCDHB11	5	140581503	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	324244	140581503	40333757	45	24860											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000490273.1_Missense_Mutation_p.G162R|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000406686.3_Missense_Mutation_p.G443R|SLC22A23_ENST00000380302.4_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													18	102					0	0	1	0	0	T	3287312	C	T	3287312	3	4	36	1	0	0	0	0	1	0	0	0	14508	652	23	1	749	1	SLC22A23	6	3287312	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		3287312	167827755	46	24861											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	496					0	0	1	0	0	A	6318801	G	A	6318801	4	1	36	1	0	0	0	0	0	1	0	0	5368	1299	45	2	2157	2	F13A1	6	6318801	Nonsense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	3031489	6318801	164796266	47	24862											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000457702.2_Missense_Mutation_p.P109Q|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P254Q|PHACTR1_ENST00000379345.2_Intron			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													64	272					2.20561e-19	2.34565e-19	1	1	0	A	13206143	C	A	13206143	3	1	36	1	0	0	0	0	1	0	0	0	11857	594	21	2	783	2	PHACTR1	6	13206143	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	6887342	13206143	157908924	48	24863											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	329					0	0	1	0	0	T	30514571	C	T	30514571	3	4	36	1	0	0	0	0	1	0	0	0	6577	652	23	1	347	1	GNL1	6	30514571	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	17308428	30514571	140600496	49	24864											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-													atggcccaccttcctcccatCaccaccaccaccaccatcac							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)del	p.H966del	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					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						TTCCTCccatcaccaccaccacc	0.645													8	815	---	---	---	---						-	33411203	CAC	-	33411201	7	5	36	1	0	1	0	1	0	0	0	0	15504	826	29	0	2930	0	SYNGAP1	6	33411201	In_Frame_Del	DEL	CAC	TCGA-RB-A7B8-01A-12D-A33T-08	2896630	33411201	137703866	50	24865											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	744					0	0	1	0	0	A	34985688	G	A	34985688	3	1	36	1	0	0	0	0	1	0	0	0	682	1087	38	1	1904	1	ANKS1A	6	34985688	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	1574487	34985688	136129379	51	24866											
OOEP	441161	broad.mit.edu	37	chr6	74079494	74079494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgccccgctgggactcagCggcaccagcatcatcgacca	10	16	2	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:74079494C>T	ENST00000370359.5	-	1	21	c.22G>A	c.(22-24)Gct>Act	p.A8T	OOEP_ENST00000370363.1_Intron|OOEP-AS1_ENST00000445350.2_RNA	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	8						cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						TGGGACTCAGCGGCACCAGCA	0.662													5	418					0	0	1	0	0	T	74079494	C	T	74079494	3	4	36	1	0	0	0	0	1	0	0	0	10918	768	27	1	439	1	OOEP	6	74079494	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	39093806	74079494	97035573	52	24867											
HTR1B	3351	broad.mit.edu	37	chr6	78172192	78172192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagggtcttggtggctttgCgctccctagcggccatgagt	14	11	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:78172192C>T	ENST00000369947.2	-	1	1298	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	310					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)	GGTGGCTTTGCGCTCCCTAGC	0.522													7	765					0	0	1	0	0	T	78172192	C	T	78172192	3	4	36	1	0	0	0	0	1	0	0	0	7481	768	27	1	247	1	HTR1B	6	78172192	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	4092698	78172192	92942875	53	24868											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359203.2_Missense_Mutation_p.E133Q|RRAGD_ENST00000492783.1_5'UTR	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													42	226					0	0	1	0	0	G	90087442	C	G	90087442	3	3	36	1	0	0	0	0	1	0	0	0	13727	835	29	5	364	5	RRAGD	6	90087442	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	11915250	90087442	81027625	54	24869											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	232					0	0	1	0	0	G	101073182	A	G	101073182	2	3	36	1	0	0	0	0	0	0	0	1	1032	175	7	3		3	ASCC3	6	101073182	Silent	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	10985740	101073182	70041885	55	24870											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000179882.6_Silent_p.T457T|STXBP5_ENST00000321680.6_Silent_p.T802T|STXBP5_ENST00000367480.3_Silent_p.T749T	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													28	214					0	0	1	0	0	A	147680320	G	A	147680320	2	1	36	1	0	0	0	0	0	0	0	1	15412	1132	40	1		1	STXBP5	6	147680320	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	46607138	147680320	23434747	56	24871											
CYTH3	9265	broad.mit.edu	37	chr7	6210909	6210909	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatgcgatcaatcttctgCgcctccccgggcagcctgaa	9	15	4	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:6210909C>T	ENST00000350796.3	-	7	622	c.486G>A	c.(484-486)gcG>gcA	p.A162A	CYTH3_ENST00000396741.2_Silent_p.A77A|CYTH3_ENST00000488964.1_5'UTR	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	162	SEC7.				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	p.A162A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						CAATCTTCTGCGCCTCCCCGG	0.612													5	464					0	0	1	0	0	T	6210909	C	T	6210909	2	4	36	1	0	0	0	0	0	0	0	1	4228	755	27	1		1	CYTH3	7	6210909	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		6210909	152927754	57	24872											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	94					0	0	1	0	0	T	100402884	C	T	100402884	3	4	36	1	0	0	0	0	1	0	0	0	5205	739	26	2	233	2	EPHB4	7	100402884	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	94191975	100402884	58735779	58	24873											
MUC17	140453	broad.mit.edu	37	chr7	100684160	100684160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgaaggtaccagcatgCcaacctcaactcctagtgaa	7	13	2	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:100684160C>T	ENST00000306151.4	+	3	9527	c.9463C>T	c.(9463-9465)Cca>Tca	p.P3155S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3155	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)					TACCAGCATGCCAACCTCAAC	0.478													9	1583					0	0	1	0	0	T	100684160	C	T	100684160	3	4	36	1	0	0	0	0	1	0	0	0	10022	739	26	2	9473	2	MUC17	7	100684160	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	281276	100684160	58454503	59	24874											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	438					0	0	1	0	0	A	100780300	G	A	100780300	3	1	36	1	0	0	0	0	1	0	0	0	14165	1087	38	1	1132	1	SERPINE1	7	100780300	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	96140	100780300	58358363	60	24875											
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	6	14	0	0	rs149757187		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:114269973A>G	ENST00000393500.3	+	11	1105	c.285A>G	c.(283-285)caA>caG	p.Q95Q	FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q			O15409	FOXP2_HUMAN	forkhead box P2	170	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	p.Q195Q(1)		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						agcagcagcaacaacaacaac	0.502													6	193					0	0	1	0	0	G	114269973	A	G	114269973	2	3	36	1	0	0	0	0	0	0	0	1	6061	40	2	3		3	FOXP2	7	114269973	Silent	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	13489673	114269973	44868690	61	24876											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_789787.4	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													32	344					0	0	1	0	0	A	141673468	G	A	141673468	3	1	36	1	0	0	0	0	1	0	0	0	15632	1116	39	1	983	1	TAS2R38	7	141673468	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	27403495	141673468	17465195	62	24877											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	460					0	0	1	0	0	T	66988979	C	T	66988979	2	4	36	1	0	0	0	0	0	0	0	1	4678	535	19	1		1	DNAJC5B	8	66988979	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		66988979	79375043	63	24878											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000349423.2_Splice_Site|WWP1_ENST00000265428.4_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													5	246					1	1	1	1	0	T	87423766	G	T	87423766	5	4	36	1	0	0	0	0	0	0	1	0	17475	1043	36	2	750	2	WWP1	8	87423766	Splice_Site	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	20434787	87423766	58940256	64	24879											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	455					0	0	1	0	0	T	122626809	C	T	122626809	3	4	36	1	0	0	0	0	1	0	0	0	7003	652	23	1	463	1	HAS2	8	122626809	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	35203043	122626809	23737213	65	24880											
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-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	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													5	332					0	0	1	0	0	A	32784414	G	A	32784414	3	1	36	1	0	0	0	0	1	0	0	0	16198	1087	38	1	235	1	TMEM215	9	32784414	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		32784414	108429017	66	24881											
NOL6	65083	broad.mit.edu	37	chr9	33464069	33464069	+	Frame_Shift_Del	DEL	T	T	-													catcctgtgtccacacagagTttttgcggtcttggggggta							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:33464069delT	ENST00000379471.2	-	22	2957	c.2870delA	c.(2869-2871)acfs	p.N957fs	NOL6_ENST00000455041.2_Frame_Shift_Del_p.N905fs|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	957					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)		CCACACAGAGTTTTTGCGGTC	0.572													8	662	---	---	---	---						-	33464069	T	-	33464069	7	5	36	1	0	1	0	1	0	0	0	0	10572	1725	60	0	590	0	NOL6	9	33464069	Frame_Shift_Del	DEL	T	TCGA-RB-A7B8-01A-12D-A33T-08	679655	33464069	107749362	67	24882											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000298048.2_Missense_Mutation_p.T428A|MELK_ENST00000545008.1_Missense_Mutation_p.T357A|MELK_ENST00000536329.1_Missense_Mutation_p.T357A|MELK_ENST00000541717.1_Missense_Mutation_p.T387A|MELK_ENST00000538311.1_Missense_Mutation_p.T234A|MELK_ENST00000536860.1_Missense_Mutation_p.T380A|MELK_ENST00000536987.1_Missense_Mutation_p.T297A	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													44	219					0	0	1	0	0	G	36665452	A	G	36665452	3	3	36	1	0	0	0	0	1	0	0	0	9520	391	14	3	1332	3	MELK	9	36665452	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	3201383	36665452	104547979	68	24883											
ZNF658	26149	broad.mit.edu	37	chr9	40772411	40772411	+	Frame_Shift_Del	DEL	A	A	-													ctgtgtgaattctttgatgtActctgagggttgaattatgg							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:40772411delA	ENST00000602553.1	-	5	3158	c.2864delT	c.(2863-2865)gafs	p.V955fs	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Frame_Shift_Del_p.V955fs			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	955					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCTTTGATGTACTCTGAGGGT	0.423													101	503	---	---	---	---						-	40772411	A	-	40772411	7	5	36	1	0	1	0	1	0	0	0	0	18126	391	14	0	319	0	ZNF658	9	40772411	Frame_Shift_Del	DEL	A	TCGA-RB-A7B8-01A-12D-A33T-08	4106959	40772411	100441020	69	24884											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													101	393					0	0	1	0	0	T	75775738	A	T	75775738	3	4	36	1	0	0	0	0	1	0	0	0	708	333	12	5	422	5	ANXA1	9	75775738	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	35003327	75775738	65437693	70	24885											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													69	299					0	0	1	0	0	A	107620844	G	A	107620844	4	1	36	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	71	24886											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PALM2_ENST00000374531.2_Intron|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R150Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R150Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.R150Q|PALM2_ENST00000483909.1_Intron|AKAP2_ENST00000510514.5_Missense_Mutation_p.R150Q|PALM2_ENST00000314527.4_Missense_Mutation_p.R150Q					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													91	392					0	0	1	0	0	A	112694261	G	A	112694261	3	1	36	1	0	0	0	0	1	0	0	0	11456	1058	37	1	481	1	PALM2	9	112694261	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	5073417	112694261	28519170	72	24887											
SYT15	83849	broad.mit.edu	37	chr10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-													cagcagcttgccccgatcaaCagcagcagcagcagcccccc							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:46969401_46969403delCAG	ENST00000374325.3	-	2	210_212	c.58_60delCTG	c.(58-60)del	p.L21del	SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631													8	214	---	---	---	---						-	46969403	CAG	-	46969401	7	5	36	1	0	1	0	1	0	0	0	0	15528	465	17	0	1287	0	SYT15	10	46969401	In_Frame_Del	DEL	CAG	TCGA-RB-A7B8-01A-12D-A33T-08		46969401	88565346	73	24888											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	265					0	0	1	0	0	C	72179709	G	C	72179709	3	2	36	1	0	0	0	0	1	0	0	0	5061	1145	40	5	191	5	EIF4EBP2	10	72179709	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	25210308	72179709	63355038	74	24889											
SYNPO2L	79933	broad.mit.edu	37	chr10	75406859	75406859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttgatagggctgatgccGcataaaatctagagccttga	11	7	1	4			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:75406859G>A	ENST00000394810.2	-	4	2700	c.2551C>T	c.(2551-2553)Cgg>Tgg	p.R851W	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W|SYNPO2L_ENST00000372872.4_Intron	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	851	Pro-rich.					cytoplasm|cytoskeleton	actin binding	p.R627W(2)|p.R851W(1)		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)					GGCTGATGCCGCATAAAATCT	0.577													5	455					0	0	1	0	0	A	75406859	G	A	75406859	3	1	36	1	0	0	0	0	1	0	0	0	15515	1086	38	1	386	1	SYNPO2L	10	75406859	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	3227150	75406859	60127888	75	24890											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_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													65	176					0	0	1	0	0	T	4976163	C	T	4976163	3	4	36	1	0	0	0	0	1	0	0	0	11134	536	19	1	162	1	OR51A2	11	4976163	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		4976163	130030353	76	24891											
CNGA4	1262	broad.mit.edu	37	chr11	6261426	6261426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctacgtgcggctgggcccGcacacacccaccctgaggct	12	17	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:6261426G>A	ENST00000379936.2	+	4	517	c.402G>A	c.(400-402)ccG>ccA	p.P134P	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	134					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)		GGCTGGGCCCGCACACACCCA	0.617													7	806					0	0	1	0	0	A	6261426	G	A	6261426	2	1	36	1	0	0	0	0	0	0	0	1	3622	1074	38	1		1	CNGA4	11	6261426	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	1285263	6261426	128745090	77	24892											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000357665.1_Missense_Mutation_p.R439C|ST5_ENST00000313726.6_Missense_Mutation_p.R439C|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron	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													9	1481					0	0	1	0	0	A	8751522	G	A	8751522	3	1	36	1	0	0	0	0	1	0	0	0	15276	1087	38	1	2170	1	ST5	11	8751522	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	2490096	8751522	126254994	78	24893											
IPO7	10527	broad.mit.edu	37	chr11	9459795	9459797	+	In_Frame_Del	DEL	TGA	TGA	-													gcagaacatgagaatgacagTgatgatgatgatgaagctga							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:9459795_9459797delTGA	ENST00000379719.3	+	22	2800_2802	c.2658_2660delTGA	c.(2656-2661)agt>ag	p.SD886del		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	886	Asp-rich.				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)		AGAATGACAGtgatgatgatgat	0.389													7	375	---	---	---	---						-	9459797	TGA	-	9459795	7	5	36	1	0	1	0	1	0	0	0	0	7841	1693	59	0	2744	0	IPO7	11	9459795	In_Frame_Del	DEL	TGA	TCGA-RB-A7B8-01A-12D-A33T-08	708273	9459795	125546721	79	24894											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000530326.1_Missense_Mutation_p.I90V|NUP160_ENST00000526870.1_3'UTR|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000528071.1_Missense_Mutation_p.I90V	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													65	294					0	0	1	0	0	C	47861533	T	C	47861533	3	2	36	1	0	0	0	0	1	0	0	0	10805	1493	52	3	3832	3	NUP160	11	47861533	Missense_Mutation	SNP	T	TCGA-RB-A7B8-01A-12D-A33T-08	38401738	47861533	87144983	80	24895											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			10	1101					0	0	1	0	0	A	55872750	G	A	55872750	3	1	36	1	0	0	0	0	1	0	0	0	11285	1145	40	1	234	1	OR8H2	11	55872750	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	8011217	55872750	79133766	81	24896											
FADS2	9415	broad.mit.edu	37	chr11	61607885	61607887	+	In_Frame_Del	DEL	TCC	TCC	-													caagaccaaccacgtgttctTcctcctcctcctggcccaca							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:61607885_61607887delTCC	ENST00000278840.4	+	3	1028_1030	c.398_400delTCC	c.(397-402)ttc>t	p.FL133del	FADS2_ENST00000522056.1_In_Frame_Del_p.FL102del|FADS2_ENST00000521849.1_In_Frame_Del_p.FL133del|FADS2_ENST00000257261.6_In_Frame_Del_p.FL111del	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	133					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CACGTGTTCTTCCTCCTCCTCCT	0.537													11	663	---	---	---	---						-	61607887	TCC	-	61607885	7	5	36	1	0	1	0	1	0	0	0	0	5397	1783	62	0	408	0	FADS2	11	61607885	In_Frame_Del	DEL	TCC	TCGA-RB-A7B8-01A-12D-A33T-08	5735135	61607885	73398631	82	24897											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000255688.3_Missense_Mutation_p.S49N|RARRES3_ENST00000354445.2_Missense_Mutation_p.S49N|RARRES3_ENST00000537871.1_3'UTR			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													20	760					0	0	1	0	0	A	63312120	G	A	63312120	3	1	36	1	0	0	0	0	1	0	0	0	13109	1029	36	2	156	2	RARRES3	11	63312120	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	1704235	63312120	71694396	83	24898											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000359902.2_Silent_p.H272H|CCDC88B_ENST00000463837.1_3'UTR|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													24	172					0	0	1	0	0	T	64120219	C	T	64120219	2	4	36	1	0	0	0	0	0	0	0	1	2884	535	19	1		1	CCDC88B	11	64120219	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	808099	64120219	70886297	84	24899											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000527009.1_Missense_Mutation_p.R223H|SCYL1_ENST00000279270.6_Missense_Mutation_p.R366H|SCYL1_ENST00000270176.5_Missense_Mutation_p.R366H|SCYL1_ENST00000525364.1_Missense_Mutation_p.R366H|SCYL1_ENST00000420247.2_Missense_Mutation_p.R366H|SCYL1_ENST00000527630.1_Missense_Mutation_p.R366H|SCYL1_ENST00000533862.1_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													5	154					0	0	1	0	0	A	65299135	G	A	65299135	3	1	36	1	0	0	0	0	1	0	0	0	14001	1087	38	1	1127	1	SCYL1	11	65299135	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	1178916	65299135	69707381	85	24900											
SPTBN2	6712	broad.mit.edu	37	chr11	66457286	66457286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcacccacctcctcggccGcatagtggctcctggccagc	9	20	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:66457286G>A	ENST00000533211.1	-	29	6270	c.5939C>T	c.(5938-5940)gCg>gTg	p.A1980V	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1980V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1980V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1980					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						CTCCTCGGCCGCATAGTGGCT	0.602													6	536					0	0	1	0	0	A	66457286	G	A	66457286	3	1	36	1	0	0	0	0	1	0	0	0	15176	1087	38	1	1273	1	SPTBN2	11	66457286	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	1158151	66457286	68549230	86	24901											
CTTN	2017	broad.mit.edu	37	chr11	70282508	70282508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacttgggtcccggagtgCccgtgaagcgtgtttttgct	16	9	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:70282508C>T	ENST00000376561.3	+	19	2070	c.1899C>T	c.(1897-1899)tgC>tgT	p.C633C	CTTN_ENST00000301843.8_3'UTR|CTTN_ENST00000346329.3_3'UTR	NM_001184740.1	NP_001171669.1	Q14247	SRC8_HUMAN	cortactin	0						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)		TCCCGGAGTGCCCGTGAAGCG	0.532													5	613					0	0	1	0	0	T	70282508	C	T	70282508	2	4	36	1	0	0	0	0	0	0	0	1	4068	747	26	2		2	CTTN	11	70282508	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	3825222	70282508	64724008	87	24902											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000528673.1_Missense_Mutation_p.R771H|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.R770H			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													6	333					0	0	1	0	0	A	110036119	G	A	110036119	3	1	36	1	0	0	0	0	1	0	0	0	17622	1087	38	1	2331	1	ZC3H12C	11	110036119	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	39753611	110036119	24970397	88	24903											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000299333.3_Silent_p.G68G|SCN3B_ENST00000530277.1_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													74	373					0	0	1	0	0	A	123516310	G	A	123516310	2	1	36	1	0	0	0	0	0	0	0	1	13973	1074	38	1		1	SCN3B	11	123516310	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	13480191	123516310	11490206	89	24904											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	303					0	0	1	0	0	T	346453	C	T	346453	2	4	36	1	0	0	0	0	0	0	0	1	14731	726	26	2		2	SLC6A13	12	346453	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		346453	133505442	90	24905											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)			5	70					0	0	1	0	0	G	25398285	C	G	25398285	3	3	36	1	0	0	0	0	1	0	0	0	8481	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	25051832	25398285	108453610	91	24906											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	433					0	0	1	0	0	T	31577541	C	T	31577541	2	4	36	1	0	0	0	0	0	0	0	1	4465	680	24	2		2	DENND5B	12	31577541	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	6179256	31577541	102274354	92	24907											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	132					0	0	1	0	0	G	43860592	A	G	43860592	2	3	36	1	0	0	0	0	0	0	0	1	265	146	6	3		3	ADAMTS20	12	43860592	Silent	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	12283051	43860592	89991303	93	24908											
OR10A7	121364	broad.mit.edu	37	chr12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-													ggctgtggtacccagatgtaCttcttcttcttctttggcag							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tac>ta	p.YF102del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414													7	590	---	---	---	---						-	55615116	CTT	-	55615114	7	5	36	1	0	1	0	1	0	0	0	0	10943	576	20	0	308	0	OR10A7	12	55615114	In_Frame_Del	DEL	CTT	TCGA-RB-A7B8-01A-12D-A33T-08	11754522	55615114	78236781	94	24909											
SBNO1	55206	broad.mit.edu	37	chr12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagctgtttctgttggaccGcaagctgttgagactggtct	12	8	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:123780522G>A	ENST00000420886.2	-	31	4114	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372							ATP binding|DNA binding|hydrolase activity	p.A1371V(2)		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)		CTGTTGGACCGCAAGCTGTTG	0.433													7	651					0	0	1	0	0	A	123780522	G	A	123780522	3	1	36	1	0	0	0	0	1	0	0	0	13915	1087	38	1	70	1	SBNO1	12	123780522	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	68165408	123780522	10071373	95	24910											
TMEM132D	121256	broad.mit.edu	37	chr12	129558549	129558549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttcctggtggggtactcGtcgtctgaggagacggcggt	18	8	1	2	rs74724941	by1000genomes	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:129558549G>A	ENST00000422113.2	-	9	3497	c.3171C>T	c.(3169-3171)gaC>gaT	p.D1057D	TMEM132D_ENST00000389441.4_Silent_p.D595D	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1057						integral to membrane		p.D1057E(1)		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)		TGGGGTACTCGTCGTCTGAGG	0.512													43	355					0	0	1	0	0	A	129558549	G	A	129558549	2	1	36	1	0	0	0	0	0	0	0	1	16107	1136	40	1		1	TMEM132D	12	129558549	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	5778027	129558549	4293346	96	24911											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PGAM5_ENST00000454808.2_Missense_Mutation_p.T7N|PGAM5_ENST00000317555.2_Missense_Mutation_p.T156N|PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000543955.1_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													18	141					2.5808e-16	2.73021e-16	1	1	0	A	133294121	C	A	133294121	3	1	36	1	0	0	0	0	1	0	0	0	11824	507	18	2	477	2	PGAM5	12	133294121	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	3735572	133294121	557774	97	24912											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	416					0	0	1	0	0	T	21721345	C	T	21721345	3	4	36	1	0	0	0	0	1	0	0	0	13884	507	18	2	397	2	SAP18	13	21721345	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		21721345	93448533	98	24913											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.R178Q|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382145.1_Intron	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													4	214					0	0	1	0	0	T	24465897	C	T	24465897	3	4	36	1	0	0	0	0	1	0	0	0	1984	652	23	1	471	1	C1QTNF9B	13	24465897	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	2744552	24465897	90703981	99	24914											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000449823.1_Missense_Mutation_p.S4N|CCNA1_ENST00000463403.1_3'UTR	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													9	343					0	0	1	0	0	A	37007204	G	A	37007204	3	1	36	1	0	0	0	0	1	0	0	0	2931	971	34	2	149	2	CCNA1	13	37007204	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	12541307	37007204	78162674	100	24915											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000379742.4_Intron|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000541179.1_Missense_Mutation_p.I687N|POSTN_ENST00000379743.4_Missense_Mutation_p.I687N|POSTN_ENST00000497145.1_5'UTR|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													39	244					0	0	1	0	0	T	38145544	A	T	38145544	3	4	36	1	0	0	0	0	1	0	0	0	12307	101	4	5	393	5	POSTN	13	38145544	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	1138340	38145544	77024334	101	24916											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	224					0	0	1	0	0	T	58208306	C	T	58208306	2	4	36	1	0	0	0	0	0	0	0	1	11559	883	31	1		1	PCDH17	13	58208306	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	20062762	58208306	56961572	102	24917											
LTBP2	4053	broad.mit.edu	37	chr14	74968164	74968164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgcaggccatgtgggccGcatccagctggaagccctca	12	15	1	0	rs138556118		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:74968164G>A	ENST00000261978.4	-	35	5686	c.5300C>T	c.(5299-5301)gCg>gTg	p.A1767V	LTBP2_ENST00000556690.1_Missense_Mutation_p.A1723V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1767	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)		CATGTGGGCCGCATCCAGCTG	0.617											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	545					0	0	1	0	0	A	74968164	G	A	74968164	3	1	36	1	0	0	0	0	1	0	0	0	9119	1087	38	1	173	1	LTBP2	14	74968164	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		74968164	32381376	103	24918											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	533					0	0	1	0	0	A	91760540	G	A	91760540	2	1	36	1	0	0	0	0	0	0	0	1	2885	1256	44	2		2	CCDC88C	14	91760540	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	16792376	91760540	15589000	104	24919											
C15orf54	400360	broad.mit.edu	37	chr15	39544774	39544774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actatattggctgactcttgCcgtgctcaggctcatgctgc	10	12	3	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:39544774C>T	ENST00000318578.3	+	2	806	c.438C>T	c.(436-438)tgC>tgT	p.C146C	RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Silent_p.C146C|RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	146										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)		CTGACTCTTGCCGTGCTCAGG	0.473													5	396					0	0	1	0	0	T	39544774	C	T	39544774	2	4	36	1	0	0	0	0	0	0	0	1	1808	747	26	2		2	C15orf54	15	39544774	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		39544774	62986618	105	24920											
ADCY7	113	broad.mit.edu	37	chr16	50338382	50338382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcgagtcctggggggcgGcacggccctttgcacatctc	13	15	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:50338382G>A	ENST00000394697.2	+	11	1820	c.1480G>A	c.(1480-1482)Gca>Aca	p.A494T	ADCY7_ENST00000566433.2_Missense_Mutation_p.A494T|ADCY7_ENST00000538642.1_Missense_Mutation_p.A494T|ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000254235.3_Missense_Mutation_p.A494T			P51828	ADCY7_HUMAN	adenylate cyclase 7	494					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)	CTGGGGGGCGGCACGGCCCTT	0.692													5	351					0	0	1	0	0	A	50338382	G	A	50338382	3	1	36	1	0	0	0	0	1	0	0	0	298	1203	42	2	1518	2	ADCY7	16	50338382	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		50338382	40016371	106	24921											
ZFHX3	463	broad.mit.edu	37	chr16	72821594	72821596	+	In_Frame_Del	DEL	GCC	GCC	-													cacgccaggcagtggtacgaGccgccgccgccgccgccgcc							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:72821594_72821596delGCC	ENST00000268489.5	-	10	11251_11253	c.10579_10581delGGC	c.(10579-10581)del	p.G3527del	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Del_p.G2613del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3527	Poly-Gly.		G -> GGG.		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)				AGTGGTACGAgccgccgccgccg	0.69													14	301	---	---	---	---						-	72821596	GCC	-	72821594	7	5	36	1	0	1	0	1	0	0	0	0	17692	958	34	0	534	0	ZFHX3	16	72821594	In_Frame_Del	DEL	GCC	TCGA-RB-A7B8-01A-12D-A33T-08	22483212	72821594	17533159	107	24922											
GSG2	83903	broad.mit.edu	37	chr17	3628194	3628194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagtgttcccaagggccGcattgtgccaaggggaatag	15	10	0	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:3628194G>A	ENST00000325418.4	+	1	984	c.965G>A	c.(964-966)cGc>cAc	p.R322H	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	322					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	p.R322H(1)									CCCAAGGGCCGCATTGTGCCA	0.582													4	243					0	0	1	0	0	A	3628194	G	A	3628194	3	1	36	1	0	0	0	0	1	0	0	0	6863	1087	38	1	967	1	GSG2	17	3628194	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		3628194	77567016	108	24923											
ITGAE	3682	broad.mit.edu	37	chr17	3661079	3661079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagggggtcctcgaatatgCcaccatcggtgagcaccacc	12	13	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:3661079C>T	ENST00000263087.4	-	9	1039	c.941G>A	c.(940-942)gGc>gAc	p.G314D		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	314	VWFA.				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)		CTCGAATATGCCACCATCGGT	0.547													6	906					0	0	1	0	0	T	3661079	C	T	3661079	3	4	36	1	0	0	0	0	1	0	0	0	7929	739	26	2	2690	2	ITGAE	17	3661079	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	32885	3661079	77534131	109	24924											
ALOX15	246	broad.mit.edu	37	chr17	4542424	4542424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggtcctcgcccacagtgCggcctagaaggacagaggag	16	11	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:4542424C>T	ENST00000570836.1	-	4	437	c.341G>A	c.(340-342)cGc>cAc	p.R114H	ALOX15_ENST00000293761.3_Missense_Mutation_p.R114H|ALOX15_ENST00000545513.1_Missense_Mutation_p.R136H|ALOX15_ENST00000574640.1_Missense_Mutation_p.R75H			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	114	PLAT.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.R114H(1)		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)	GCCCACAGTGCGGCCTAGAAG	0.607													6	642					0	0	1	0	0	T	4542424	C	T	4542424	3	4	36	1	0	0	0	0	1	0	0	0	534	768	27	1	1695	1	ALOX15	17	4542424	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	881345	4542424	76652786	110	24925											
MINK1	50488	broad.mit.edu	37	chr17	4798502	4798502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatccggaagtacaagaagcGattcaactccgagatcctct	9	11	2	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:4798502G>A	ENST00000355280.6	+	25	3246	c.3050G>A	c.(3049-3051)cGa>cAa	p.R1017Q	MINK1_ENST00000347992.7_Missense_Mutation_p.R988Q|MINK1_ENST00000453408.3_Missense_Mutation_p.R997Q	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	1017	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						TACAAGAAGCGATTCAACTCC	0.592													6	811					0	0	1	0	0	A	4798502	G	A	4798502	3	1	36	1	0	0	0	0	1	0	0	0	9635	1058	37	1	2915	1	MINK1	17	4798502	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	256078	4798502	76396708	111	24926											
DNAH2	146754	broad.mit.edu	37	chr17	7722684	7722684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaataagctggaggaccGcattgactacctgaatgact	10	10	0	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:7722684G>A	ENST00000572933.1	+	72	12433	c.10973G>A	c.(10972-10974)cGc>cAc	p.R3658H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3658H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3658					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3658H(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)				CTGGAGGACCGCATTGACTAC	0.557													4	247					0	0	1	0	0	A	7722684	G	A	7722684	3	1	36	1	0	0	0	0	1	0	0	0	4630	1087	38	1	11255	1	DNAH2	17	7722684	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	2924182	7722684	73472526	112	24927											
CCDC43	124808	broad.mit.edu	37	chr17	42756252	42756253	+	Frame_Shift_Ins	INS	-	-	T													tcgctcccctctctgtgtccINStttttttttccttttccttg							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:42756252_42756253insT	ENST00000315286.8	-	5	654_655	c.646_647insA	c.(646-648)gacfs	p.D216fs	CCDC43_ENST00000457422.2_3'UTR|C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000588210.1_Frame_Shift_Ins_p.D219fs	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	216										lung(2)	2		Prostate(33;0.0322)				TCTCTGTGTCCTTTTTTTTTCC	0.465													7	110	---	---	---	---						T	42756253	-	T	42756252	7	5	36	1	0	1	1	0	0	0	0	0	2835	681	24	0	31	0	CCDC43	17	42756252	Frame_Shift_Ins	INS	-	TCGA-RB-A7B8-01A-12D-A33T-08	35033568	42756252	38438958	113	24928											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000582155.1_Missense_Mutation_p.K580E|NFE2L1_ENST00000583378.1_Missense_Mutation_p.K569E|NFE2L1_ENST00000536222.1_Missense_Mutation_p.K612E|NFE2L1_ENST00000585291.1_Missense_Mutation_p.K738E|NFE2L1_ENST00000361665.3_Missense_Mutation_p.K757E|NFE2L1_ENST00000357480.5_Missense_Mutation_p.K738E	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													12	140					0	0	1	0	0	G	46136986	A	G	46136986	3	3	36	1	0	0	0	0	1	0	0	0	10414	15	1	3	2320	3	NFE2L1	17	46136986	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	3380734	46136986	35058224	114	24929											
UBE2O	63893	broad.mit.edu	37	chr17	74387236	74387236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcaccgatgcgtctggtgCggtctccgaagtctggtctg	15	11	4	0	rs139277198	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:74387236C>T	ENST00000319380.7	-	18	3731	c.3667G>A	c.(3667-3669)Gca>Aca	p.A1223T		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1223							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						GCGTCTGGTGCGGTCTCCGAA	0.622													5	411					0	0	1	0	0	T	74387236	C	T	74387236	3	4	36	1	0	0	0	0	1	0	0	0	16929	768	27	1	215	1	UBE2O	17	74387236	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	28250250	74387236	6807974	115	24930											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	230					0	0	1	0	0	T	25572669	C	T	25572669	3	4	36	1	0	0	0	0	1	0	0	0	3127	768	27	1	1458	1	CDH2	18	25572669	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		25572669	52504579	116	24931											
KRI1	65095	broad.mit.edu	37	chr19	10673457	10673457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccttcaggtacatgggccGcactttcttctgcttctcca	8	14	4	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:10673457G>A	ENST00000312962.6	-	4	368	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	KRI1_ENST00000361821.5_Missense_Mutation_p.R113W|KRI1_ENST00000537964.1_Intron	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	117	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)			TACATGGGCCGCACTTTCTTC	0.557													5	652					0	0	1	0	0	A	10673457	G	A	10673457	3	1	36	1	0	0	0	0	1	0	0	0	8487	1086	38	1	1844	1	KRI1	19	10673457	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		10673457	48455526	117	24932											
LGI4	163175	broad.mit.edu	37	chr19	35624621	35624621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcaggtgggacaggcccGcaaatgcatcgtcctcaatc	11	13	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:35624621G>A	ENST00000392225.3	-	3	809	c.290C>T	c.(289-291)gCg>gTg	p.A97V	LGI4_ENST00000310123.3_Missense_Mutation_p.A97V|LGI4_ENST00000591633.1_Missense_Mutation_p.A97V|LGI4_ENST00000493050.1_5'UTR			Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	97						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)			GGACAGGCCCGCAAATGCATC	0.582													3	51					0	0	1	0	0	A	35624621	G	A	35624621	3	1	36	1	0	0	0	0	1	0	0	0	8794	1087	38	1	1351	1	LGI4	19	35624621	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	24951164	35624621	23504362	118	24933											
CYP2A13	1553	broad.mit.edu	37	chr19	41597726	41597726	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caagggctggaggacttcatCgccaagaaggtggagcacaa	14	9	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:41597726C>A	ENST00000330436.3	+	5	744	c.744C>A	c.(742-744)atC>atA	p.I248I		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	248					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)	AGGACTTCATCGCCAAGAAGG	0.557													7	299					8.10497e-08	8.39742e-08	1	1	0	A	41597726	C	A	41597726	2	1	36	1	0	0	0	0	0	0	0	1	4184	874	31	4		4	CYP2A13	19	41597726	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	5973105	41597726	17531257	119	24934											
GPR4	2828	broad.mit.edu	37	chr19	46095021	46095021	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccacagagccaggcagTtggtgggcagccccacgccg	14	17	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:46095021T>C	ENST00000323040.4	-	2	1048	c.104A>G	c.(103-105)aAc>aGc	p.N35S	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	35						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)		AGCCAGGCAGTTGGTGGGCAG	0.642													4	266					0	0	1	0	0	C	46095021	T	C	46095021	3	2	36	1	0	0	0	0	1	0	0	0	6734	1725	60	3	988	3	GPR4	19	46095021	Missense_Mutation	SNP	T	TCGA-RB-A7B8-01A-12D-A33T-08	4497295	46095021	13033962	120	24935											
FUT2	2524	broad.mit.edu	37	chr19	49207099	49207099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgttcgggatctgggccGcatacctcacgggcggagac	16	12	2	1	rs79097987		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:49207099G>A	ENST00000425340.2	+	2	1003	c.886G>A	c.(886-888)Gca>Aca	p.A296T	FUT2_ENST00000391876.4_Missense_Mutation_p.A296T	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	296					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)		GATCTGGGCCGCATACCTCAC	0.557													5	521					0	0	1	0	0	A	49207099	G	A	49207099	3	1	36	1	0	0	0	0	1	0	0	0	6139	1087	38	1	888	1	FUT2	19	49207099	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	3112078	49207099	9921884	121	24936											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000587492.1_Missense_Mutation_p.E169G|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E198G|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E315G|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E314G			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													6	410					0	0	1	0	0	C	56733491	T	C	56733491	3	2	36	1	0	0	0	0	1	0	0	0	18278	1783	62	3	550	3	ZSCAN5A	19	56733491	Missense_Mutation	SNP	T	TCGA-RB-A7B8-01A-12D-A33T-08	7526392	56733491	2395492	122	24937			1	9		2	2	13	T		5.426787e-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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000587492.1_Missense_Mutation_p.E165G|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E194G|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E311G|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E310G			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													6	425					0	0	1	0	0	C	56733503	T	C	56733503	3	2	36	1	0	0	0	0	1	0	0	0	18278	1551	54	3	562	3	ZSCAN5A	19	56733503	Missense_Mutation	SNP	T	TCGA-RB-A7B8-01A-12D-A33T-08	12	56733503	2395480	123	24938			1	9		2	2	13	T		5.426787e-05
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	141					0	0	1	0	0	T	58490664	C	T	58490664	3	4	36	1	0	0	0	0	1	0	0	0	18089	603	21	2	998	2	ZNF606	19	58490664	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	1757161	58490664	638319	124	24939											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				27	173					0	0	1	0	0	T	10621878	C	T	10621878	2	4	36	1	0	0	0	0	0	0	0	1	7978	796	28	2		2	JAG1	20	10621878	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		10621878	52403642	125	24940											
NFATC2	4773	broad.mit.edu	37	chr20	50071158	50071158	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggatcatttgctggccGccatagaccaggcagctgtc	13	11	1	2	rs146686251	by1000genomes	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:50071158G>A	ENST00000371564.3	-	6	1995	c.1776C>T	c.(1774-1776)ggC>ggT	p.G592G	NFATC2_ENST00000414705.1_Silent_p.G572G|NFATC2_ENST00000396009.3_Silent_p.G592G	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	592					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	p.G592G(1)	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)					TTTGCTGGCCGCCATAGACCA	0.502													5	630					0	0	1	0	0	A	50071158	G	A	50071158	2	1	36	1	0	0	0	0	0	0	0	1	10409	1074	38	1		1	NFATC2	20	50071158	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	39449280	50071158	12954362	126	24941											
GNAS	2778	broad.mit.edu	37	chr20	57430245	57430245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaagaaggtacccctggCggagaagcgcagacagatgc	15	10	1	4			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:57430245C>T	ENST00000371100.4	+	1	2477	c.1925C>T	c.(1924-1926)gCg>gTg	p.A642V	GNAS_ENST00000603534.1_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306120.3_Missense_Mutation_p.R579W|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.A642V|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.A642V|GNAS_ENST00000371098.2_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)			GTACCCCTGGCGGAGAAGCGC	0.592			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			13	43					0	0	1	0	0	T	57430245	C	T	57430245	3	4	36	1	0	0	0	0	1	0	0	0	6552	768	27	1	2669	1	GNAS	20	57430245	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	7359087	57430245	5595275	127	24942											
RTEL1	51750	broad.mit.edu	37	chr20	62324513	62324513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcttctaccagtttgtgCggccccaccataagcagcag	10	14	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:62324513C>T	ENST00000318100.4	+	30	3696	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	957					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)			CCAGTTTGTGCGGCCCCACCA	0.597													8	628					0	0	1	0	0	T	62324513	C	T	62324513	3	4	36	1	0	0	0	0	1	0	0	0	13772	759	27	1	2983	1	RTEL1	20	62324513	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	4894268	62324513	701007	128	24943											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.A37V|TPTE_ENST00000361285.4_Missense_Mutation_p.A37V	NM_199259.2	NP_954868.1	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													6	485					0	0	1	0	0	A	10970018	G	A	10970018	3	1	36	1	0	0	0	0	1	0	0	0	16491	1087	38	1	1621	1	TPTE	21	10970018	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		10970018	37159877	129	24944											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000398907.1_Missense_Mutation_p.R362C|ERG_ENST00000453032.2_Missense_Mutation_p.R293C|ERG_ENST00000288319.7_Missense_Mutation_p.R385C|ERG_ENST00000398919.2_Missense_Mutation_p.R392C|ERG_ENST00000417133.2_Missense_Mutation_p.R392C|ERG_ENST00000398910.1_Missense_Mutation_p.R369C|ERG_ENST00000398911.1_Missense_Mutation_p.R368C	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"								11	445					0	0	1	0	0	A	39755612	G	A	39755612	3	1	36	1	0	0	0	0	1	0	0	0	5250	1087	38	1	290	1	ERG	21	39755612	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	28785594	39755612	8374283	130	24945											
AP1B1	162	broad.mit.edu	37	chr22	29726396	29726396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggttgcccggctggatccGcagctccgccagcacccaga	14	16	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:29726396G>A	ENST00000357586.2	-	21	2923	c.2737C>T	c.(2737-2739)Cgg>Tgg	p.R913W	AP1B1_ENST00000405198.1_Missense_Mutation_p.R913W|AP1B1_ENST00000415447.1_Missense_Mutation_p.R906W|AP1B1_ENST00000402502.1_Missense_Mutation_p.R906W|AP1B1_ENST00000356015.2_Missense_Mutation_p.R906W|AP1B1_ENST00000317368.7_Missense_Mutation_p.R886W|AP1B1_ENST00000432560.2_Missense_Mutation_p.R906W	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	913					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						GGCTGGATCCGCAGCTCCGCC	0.667													4	242					0	0	1	0	0	A	29726396	G	A	29726396	3	1	36	1	0	0	0	0	1	0	0	0	727	1086	38	1	124	1	AP1B1	22	29726396	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		29726396	21578170	131	24946											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													50	1043					0	0	1	0	0	A	36960745	G	A	36960745	3	1	36	1	0	0	0	0	1	0	0	0	2575	1086	38	1	350	1	CACNG2	22	36960745	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	7234349	36960745	14343821	132	24947											
ST13	6767	broad.mit.edu	37	chr22	41252460	41252460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccactccctcaggaagcGcatttcctcggtgtgcagaa	9	15	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:41252460G>A	ENST00000216218.3	-	1	566	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	29							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						CTCAGGAAGCGCATTTCCTCG	0.642													5	461					0	0	1	0	0	A	41252460	G	A	41252460	3	1	36	1	0	0	0	0	1	0	0	0	15266	1087	38	1	1072	1	ST13	22	41252460	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	4291715	41252460	10052106	133	24948											
PLCXD1	55344	broad.mit.edu	37	chrX	200930	200930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacgaggactggatgtcgGcactgtgtccccggctctgg	14	13	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:200930G>A	ENST00000381657.2	+	2	590	c.76G>A	c.(76-78)Gca>Aca	p.A26T	PLCXD1_ENST00000399012.1_Missense_Mutation_p.A26T|PLCXD1_ENST00000484611.2_3'UTR|PLCXD1_ENST00000381663.3_Missense_Mutation_p.A26T	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	26					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)				CTGGATGTCGGCACTGTGTCC	0.642													5	347					0	0	1	0	0	A	200930	G	A	200930	3	1	36	1	0	0	0	0	1	0	0	0	12089	1203	42	2	78	2	PLCXD1	23	200930	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		200930	155069630	134	24949											
RAI2	10742	broad.mit.edu	37	chrX	17819928	17819928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccaccttcagagccatgCcactctgagactcggcaggg	11	16	2	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:17819928C>T	ENST00000545871.1	-	3	663	c.203G>A	c.(202-204)gGc>gAc	p.G68D	RP3-389A20.4_ENST00000509491.2_Intron|RAI2_ENST00000451717.1_Missense_Mutation_p.G68D|RAI2_ENST00000415486.3_Intron|RAI2_ENST00000360011.1_Missense_Mutation_p.G68D|RAI2_ENST00000331511.1_Missense_Mutation_p.G68D	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	68					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CAGAGCCATGCCACTCTGAGA	0.622													6	606					0	0	1	0	0	T	17819928	C	T	17819928	3	4	36	1	0	0	0	0	1	0	0	0	13061	739	26	2	1393	2	RAI2	23	17819928	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	17618998	17819928	137450632	135	24950											
GNL3L	54552	broad.mit.edu	37	chrX	54578339	54578341	+	In_Frame_Del	DEL	GAA	GAA	-													gcagtggcccaccgtttgggGaagaagaagaagggaggctt							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:54578339_54578341delGAA	ENST00000336470.4	+	12	1252_1254	c.1113_1115delGAA	c.(1111-1116)ggg>gg	p.GK371del	GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	371					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCGTTTGGGGAAGAAGAAGAAG	0.557													10	304	---	---	---	---						-	54578341	GAA	-	54578339	7	5	36	1	0	1	0	1	0	0	0	0	6580	1161	41	0	1155	0	GNL3L	23	54578339	In_Frame_Del	DEL	GAA	TCGA-RB-A7B8-01A-12D-A33T-08	36758411	54578339	100692221	136	24951											
MED12	9968	broad.mit.edu	37	chrX	70360648	70360650	+	In_Frame_Del	DEL	CAG	CAG	-													agcagcagcagcaacagcaaCagcagcagcagcagcagcag							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:70360648_70360650delCAG	ENST00000333646.6	+	42	6416_6418	c.6217_6219delCAG	c.(6217-6219)del	p.Q2079del	MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del|MED12_ENST00000374080.3_In_Frame_Del_p.Q2076del	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)					gcaacagcaacagcagcagcagc	0.621			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						8	280	---	---	---	---						-	70360650	CAG	-	70360648	7	5	36	1	0	1	0	1	0	0	0	0	9478	479	17	0	6374	0	MED12	23	70360648	In_Frame_Del	DEL	CAG	TCGA-RB-A7B8-01A-12D-A33T-08	15782309	70360648	84909912	137	24952											
ATRX	546	broad.mit.edu	37	chrX	76907782	76907784	+	In_Frame_Del	DEL	TCC	TCC	-													tttcatcttcctcctcctctTcctcctcctcctcctcttcc							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:76907782_76907784delTCC	ENST00000373344.5	-	15	4591_4593	c.4377_4379delGGA	c.(4375-4380)gaa>ga	p.EE1463del	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1463	Poly-Glu.				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)	ctcctcctcttcctcctcctcct	0.389			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						7	382	---	---	---	---						-	76907784	TCC	-	76907782	7	5	36	1	0	1	0	1	0	0	0	0	1206	1783	62	0	3183	0	ATRX	23	76907782	In_Frame_Del	DEL	TCC	TCGA-RB-A7B8-01A-12D-A33T-08	6547134	76907782	78362778	138	24953											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													22	319					0	0	1	0	0	A	100880318	G	A	100880318	3	1	36	1	0	0	0	0	1	0	0	0	960	1145	40	1	351	1	ARMCX3	23	100880318	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	23972536	100880318	54390242	139	24954											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			37	552					7.04047e-22	7.52732e-22	1	1	0	T	141291654	G	T	141291654	2	4	36	1	0	0	0	0	0	0	0	1	9231	987	35	2		2	MAGEC2	23	141291654	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	40411336	141291654	13978906	140	24955											
HSPG2	3339	broad.mit.edu	37	chr1	22211066	22211066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagcctgatctggtcccGgaagcggcgggtgctctggc	17	13	2	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:22211066G>A	ENST00000374695.3	-	13	1688	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	537					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)	ATCTGGTCCCGGAAGCGGCGG	0.667													5	470					0	0	1	0	0	A	22211066	G	A	22211066	3	1	37	1	0	0	0	0	1	0	0	0	7474	1115	39	1	11906	1	HSPG2	1	22211066	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		22211066	227039555	1	24956											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544305.1_Missense_Mutation_p.T55M|EPHB2_ENST00000374632.3_Missense_Mutation_p.T55M|EPHB2_ENST00000374627.1_Missense_Mutation_p.T49M|EPHB2_ENST00000374630.3_Missense_Mutation_p.T55M	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													9	109					0	0	1	0	0	T	23110922	C	T	23110922	3	4	37	1	0	0	0	0	1	0	0	0	5203	536	19	1	174	1	EPHB2	1	23110922	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	899856	23110922	226139699	2	24957											
CCDC28B	79140	broad.mit.edu	37	chr1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-													ctttccaaggaacccgtctaTgtgtgtgtgttcctgagagg							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tfs	p.C192fs	CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										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)				AACCCGTCTATGTGTGTGTGTT	0.5													15	862	---	---	---	---						-	32670248	TG	-	32670247	7	5	37	1	0	1	0	1	0	0	0	0	2822	1479	51	0		0	CCDC28B	1	32670247	Frame_Shift_Del	DEL	TG	TCGA-US-A776-01A-13D-A33T-08	9559325	32670247	216580374	3	24958											
ZMYM6	9204	broad.mit.edu	37	chr1	35484912	35484912	+	Frame_Shift_Del	DEL	A	A	-													aactaaacaatatacacactAaaaaaaaggtaaagtaaaaa							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:35484912delA	ENST00000317538.5	-	4	634	c.470delT	c.(469-471)tafs	p.L157fs	ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000357182.4_Intron|ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000373333.1_Frame_Shift_Del_p.L157fs			O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	0					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TATACACACTAAAAAAAAGGT	0.343													7	288	---	---	---	---						-	35484912	A	-	35484912	7	5	37	1	0	1	0	1	0	0	0	0	17762	377	13	0		0	ZMYM6	1	35484912	Frame_Shift_Del	DEL	A	TCGA-US-A776-01A-13D-A33T-08	2814665	35484912	213765709	4	24959											
PPIH	10465	broad.mit.edu	37	chr1	43124525	43124525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgattgcaggaagttggccGcatgaagatcgagctctttg	13	8	1	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:43124525G>A	ENST00000304979.3	+	2	99	c.77G>A	c.(76-78)cGc>cAc	p.R26H	PPIH_ENST00000372549.1_5'UTR|PPIH_ENST00000372550.1_5'UTR	NM_006347.3	NP_006338.1	O43447	PPIH_HUMAN	peptidylprolyl isomerase H (cyclophilin H)	26	PPIase cyclophilin-type.				protein complex assembly|protein folding	cytoplasm|nuclear speck|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding			endometrium(1)|large_intestine(1)|lung(2)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	GAAGTTGGCCGCATGAAGATC	0.582													4	294					0	0	1	0	0	A	43124525	G	A	43124525	3	1	37	1	0	0	0	0	1	0	0	0	12374	1087	38	1	83	1	PPIH	1	43124525	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	7639613	43124525	206126096	5	24960											
B4GALT2	8704	broad.mit.edu	37	chr1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-													atgccctccacccagctgctAgcagcagcagcagcagcagc					rs72406230		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)del	p.S65del	B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					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)	CCCAGCTGCTagcagcagcagca	0.685													8	422	---	---	---	---						-	44447009	AGC	-	44447007	7	5	37	1	0	1	0	1	0	0	0	0	1269	420	15	0	177	0	B4GALT2	1	44447007	In_Frame_Del	DEL	AGC	TCGA-US-A776-01A-13D-A33T-08	1322482	44447007	204803614	6	24961											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				11	962					0	0	1	0	0	T	45297975	C	T	45297975	3	4	37	1	0	0	0	0	1	0	0	0	12780	864	30	2	3407	2	PTCH2	1	45297975	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	850968	45297975	203952646	7	24962											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000452782.2_Missense_Mutation_p.R311C|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R459C|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R474C			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													260	236					0	0	1	0	0	T	47284367	C	T	47284367	3	4	37	1	0	0	0	0	1	0	0	0	4208	652	23	1	1466	1	CYP4B1	1	47284367	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	1986392	47284367	201966254	8	24963											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													243	229					0	0	1	0	0	A	55223794	G	A	55223794	2	1	37	1	0	0	0	0	0	0	0	1	11514	932	33	2		2	PARS2	1	55223794	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	7939427	55223794	194026827	9	24964											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:57333282G>A	ENST00000361249.3	+	2	174	c.77_splice	c.e2-1	p.Q26_splice		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													41	192					0	0	1	0	0	A	57333282	G	A	57333282	5	1	37	1	0	0	0	0	0	0	1	0	2432	1188	41	2	84	2	C8A	1	57333282	Splice_Site	SNP	G	TCGA-US-A776-01A-13D-A33T-08	2109488	57333282	191917339	10	24965											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	215					0	0	1	0	0	A	57383364	G	A	57383364	3	1	37	1	0	0	0	0	1	0	0	0	2432	1116	39	1	1772	1	C8A	1	57383364	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	50082	57383364	191867257	11	24966											
TNNI3K	51086	broad.mit.edu	37	chr1	74957824	74957826	+	In_Frame_Del	DEL	CTT	CTT	-													cagcagtgggtctctctcacCttcttcttcttctgattgcc							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:74957824_74957826delCTT	ENST00000370891.2	+	25	2544_2546	c.2528_2530delCTT	c.(2527-2532)cct>c	p.PS843del	FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|LRRC53_ENST00000294635.4_Intron	NM_001112808.2	NP_001106279.1			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						TCTCTCTCACCTTCTTCTTCTTC	0.473													10	837	---	---	---	---						-	74957826	CTT	-	74957824	7	5	37	1	0	1	0	1	0	0	0	0	16389	681	24	0	2670	0	TNNI3K	1	74957824	In_Frame_Del	DEL	CTT	TCGA-US-A776-01A-13D-A33T-08	17574460	74957824	174292797	12	24967											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	120					0	0	1	0	0	A	90399492	G	A	90399492	3	1	37	1	0	0	0	0	1	0	0	0	9069	1291	45	2	867	2	LRRC8D	1	90399492	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	15441668	90399492	158851129	13	24968											
KCND3	3752	broad.mit.edu	37	chr1	112524427	112524427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgtgtagcccaggatccGcaggccctgggagtggcggg	18	11	0	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:112524427G>A	ENST00000369697.1	-	1	991	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	KCND3_ENST00000302127.4_Missense_Mutation_p.R308W|KCND3_ENST00000315987.2_Missense_Mutation_p.R308W			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	308						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)		CCCAGGATCCGCAGGCCCTGG	0.567													4	232					0	0	1	0	0	A	112524427	G	A	112524427	3	1	37	1	0	0	0	0	1	0	0	0	8064	1086	38	1	1073	1	KCND3	1	112524427	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	22124935	112524427	136726194	14	24969											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	123					0	0	1	0	0	T	116247905	C	T	116247905	3	4	37	1	0	0	0	0	1	0	0	0	2699	893	31	1	364	1	CASQ2	1	116247905	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	3723478	116247905	133002716	15	24970											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_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													16	532					1.52009e-12	1.61837e-12	1	1	0	A	152326576	C	A	152326576	3	1	37	1	0	0	0	0	1	0	0	0	5956	855	30	2	3493	2	FLG2	1	152326576	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	36078671	152326576	96924045	16	24971											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	422					0	0	1	0	0	T	154072575	C	T	154072575	3	4	37	1	0	0	0	0	1	0	0	0	10809	768	27	1	3910	1	NUP210L	1	154072575	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	1745999	154072575	95178046	17	24972											
PAQR6	79957	broad.mit.edu	37	chr1	156215327	156215327	+	Splice_Site	DEL	G	G	-													gaggggcctgggaacccaccGggagtagcaggagaggccgg							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:156215327delG	ENST00000335852.1	-	4	808	c.194_splice	c.e4+1	p.R65_splice	PAQR6_ENST00000356983.2_Splice_Site_p.R65_splice|PAQR6_ENST00000540423.1_Splice_Site_p.R168_splice|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000360733.2_Splice_Site_p.R65_splice|PAQR6_ENST00000292291.5_Splice_Site_p.R171_splice|PAQR6_ENST00000368270.1_Splice_Site_p.R147_splice	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	171						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GGAACCCACCGGGAGTAGCAG	0.662													103	174	---	---	---	---						-	156215327	G	-	156215327	8	5	37	1	0	1	0	1	0	0	1	0	11486	1130	39	0	878	0	PAQR6	1	156215327	Splice_Site	DEL	G	TCGA-US-A776-01A-13D-A33T-08	2142752	156215327	93035294	18	24973											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:158618342C>T	ENST00000368148.3	-	26	3851	c.3671G>A	c.(3670-3672)cGg>cAg	p.R1224Q	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1224Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1224					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													141	166					0	0	1	0	0	T	158618342	C	T	158618342	3	4	37	1	0	0	0	0	1	0	0	0	15172	652	23	1	3696	1	SPTA1	1	158618342	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	2403015	158618342	90632279	19	24974											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	278					0	0	1	0	0	A	176564512	T	A	176564512	3	1	37	1	0	0	0	0	1	0	0	0	11480	1493	52	5	1778	5	PAPPA2	1	176564512	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	17946170	176564512	72686109	20	24975											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	178					0	0	1	0	0	G	202931804	C	G	202931804	3	3	37	1	0	0	0	0	1	0	0	0	4149	478	17	5	152	5	CYB5R1	1	202931804	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	26367292	202931804	46318817	21	24976											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366930.4_Silent_p.A306A|TGFB2_ENST00000479322.1_3'UTR	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													15	282					0	0	1	0	0	A	218609475	G	A	218609475	2	1	37	1	0	0	0	0	0	0	0	1	15878	1103	39	1		1	TGFB2	1	218609475	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	15677671	218609475	30641146	22	24977											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	261					0	0	1	0	0	T	224872534	C	T	224872534	3	4	37	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	23	24978											
OR2L3	391192	broad.mit.edu	37	chr1	248224819	248224819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggctgtcttctacaccaCcctcactccaatgctcaacc	4	18	5	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:248224819C>T	ENST00000359959.3	+	1	836	c.836C>T	c.(835-837)aCc>aTc	p.T279I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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)			TTCTACACCACCCTCACTCCA	0.493													5	392					0	0	1	0	0	T	248224819	C	T	248224819	3	4	37	1	0	0	0	0	1	0	0	0	11056	507	18	2	838	2	OR2L3	1	248224819	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	23352285	248224819	1025802	24	24979											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	713					0	0	1	0	0	T	248525478	C	T	248525478	3	4	37	1	0	0	0	0	1	0	0	0	11075	623	22	2	598	2	OR2T4	1	248525478	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	300659	248525478	725143	25	24980											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.V204I			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													4	136					0	0	1	0	0	A	18112885	G	A	18112885	3	1	37	1	0	0	0	0	1	0	0	0	8134	1145	40	1	612	1	KCNS3	2	18112885	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		18112885	225086488	26	24981											
OTOF	9381	broad.mit.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-													tctggctcctccgcagtgccCttcttcttcttcttcttctc							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)del	p.K1310del	OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				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)					CCGCAGTGCCcttcttcttcttc	0.576													7	238	---	---	---	---						-	26693556	CTT	-	26693554	7	5	37	1	0	1	0	1	0	0	0	0	11350	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-US-A776-01A-13D-A33T-08	8580669	26693554	216505819	27	24982											
XDH	7498	broad.mit.edu	37	chr2	31637495	31637495	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcagctcctacttacctttCtgccattcacaaagaaaacc	4	14	3	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:31637495C>A	ENST00000379416.3	-	1	86	c.38G>T	c.(37-39)aGa>aTa	p.R13I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	13	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)	ACTTACCTTTCTGCCATTCAC	0.493													5	383					0.00116845	0.00117798	1	1	0	A	31637495	C	A	31637495	3	1	37	1	0	0	0	0	1	0	0	0	17486	913	32	2	4107	2	XDH	2	31637495	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	4943941	31637495	211561878	28	24983											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000317668.4_Missense_Mutation_p.R412C|PROM2_ENST00000403131.2_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													20	77					0	0	1	0	0	T	95944852	C	T	95944852	3	4	37	1	0	0	0	0	1	0	0	0	12608	652	23	1	1272	1	PROM2	2	95944852	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	64307357	95944852	147254521	29	24984											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360990.3_Silent_p.S226S|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000468529.1_Silent_p.S222S	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													68	309					0	0	1	0	0	T	96049770	C	T	96049770	2	4	37	1	0	0	0	0	0	0	0	1	8085	581	21	2		2	KCNIP3	2	96049770	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	104918	96049770	147149603	30	24985											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													92	475					2.36867e-37	2.62359e-37	1	1	0	A	119739962	C	A	119739962	3	1	37	1	0	0	0	0	1	0	0	0	9361	680	24	2	1085	2	MARCO	2	119739962	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	23690192	119739962	123459411	31	24986											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	138					0	0	1	0	0	A	136680484	G	A	136680484	2	1	37	1	0	0	0	0	0	0	0	1	4265	1335	47	2		2	DARS	2	136680484	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	16940522	136680484	106518889	32	24987											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)gat>ga	p.ELSD35697del	TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_In_Frame_Del_p.ELSD34056del|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_In_Frame_Del_p.ELSD26824del|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_In_Frame_Del_p.ELSD33129del|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_In_Frame_Del_p.ELSD26757del|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000460472.2_In_Frame_Del_p.ELSD26632del|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592600.1_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													16	49	---	---	---	---						-	179393387	TCTGAGAGT	-	179393379	7	5	37	1	0	1	0	1	0	0	0	0	16797	1435	50	0	892	0	TTN	2	179393379	In_Frame_Del	DEL	TCTGAGAGT	TCGA-US-A776-01A-13D-A33T-08	42712895	179393379	63805994	33	24988											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000081.1	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													13	225					0	0	1	0	0	T	189859047	C	T	189859047	4	4	37	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	34	24989											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:198266548T>C	ENST00000335508.5	-	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	763					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								88	178					0	0	1	0	0	C	198266548	T	C	198266548	3	2	37	1	0	0	0	0	1	0	0	0	14203	1725	60	3	1666	3	SF3B1	2	198266548	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	8407501	198266548	44932825	35	24990											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	237					0	0	1	0	0	A	3887411	T	A	3887411	3	1	37	1	0	0	0	0	1	0	0	0	9079	1432	50	5	1088	5	LRRN1	3	3887411	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08		3887411	194135019	36	24991											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	264					0	0	1	0	0	T	12858160	C	T	12858160	4	4	37	1	0	0	0	0	0	1	0	0	2634	760	27	1	1767	1	CAND2	3	12858160	Nonsense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	8970749	12858160	185164270	37	24992											
FYCO1	79443	broad.mit.edu	37	chr3	46009639	46009639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctgcatctcctgggccGcatcactgggaataggttct	11	13	3	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:46009639G>A	ENST00000296137.2	-	8	1392	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A396V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	396					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)		CTCCTGGGCCGCATCACTGGG	0.567													9	820					0	0	1	0	0	A	46009639	G	A	46009639	3	1	37	1	0	0	0	0	1	0	0	0	6160	1087	38	1	3293	1	FYCO1	3	46009639	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	33151479	46009639	152012791	38	24993											
CCR3	1232	broad.mit.edu	37	chr3	46306948	46306948	+	Frame_Shift_Del	DEL	T	T	-													tgtcagggggcataactgggTttttggccatggcatgtgta							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:46306948delT	ENST00000357422.2	+	4	842	c.299delT	c.(298-300)gtfs	p.V100fs	CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	100					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)		CATAACTGGGTTTTTGGCCAT	0.488													9	910	---	---	---	---						-	46306948	T	-	46306948	7	5	37	1	0	1	0	1	0	0	0	0	2964	1725	60	0	368	0	CCR3	3	46306948	Frame_Shift_Del	DEL	T	TCGA-US-A776-01A-13D-A33T-08	297309	46306948	151715482	39	24994											
TDGF1	6997	broad.mit.edu	37	chr3	46620835	46620835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggtcttcccagcgtgtgCcgcccatggggatacagcac	12	15	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:46620835C>T	ENST00000296145.5	+	3	935	c.202C>T	c.(202-204)Ccg>Tcg	p.P68S	TDGF1_ENST00000542931.1_Missense_Mutation_p.P52S|LRRC2_ENST00000296144.3_Intron	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	68					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CCAGCGTGTGCCGCCCATGGG	0.557													4	216					0	0	1	0	0	T	46620835	C	T	46620835	3	4	37	1	0	0	0	0	1	0	0	0	15785	739	26	2	212	2	TDGF1	3	46620835	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	313887	46620835	151401595	40	24995											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000489684.1_Intron|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.I78T	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													7	260					0	0	1	0	0	C	49049353	T	C	49049353	3	2	37	1	0	0	0	0	1	0	0	0	17370	1406	49	3	482	3	WDR6	3	49049353	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	2428518	49049353	148973077	41	24996											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.R129H|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.R123H|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.R155H|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.R123H|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.R94H	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													21	332					0	0	1	0	0	T	56789016	C	T	56789016	3	4	37	1	0	0	0	0	1	0	0	0	901	536	19	1	1244	1	ARHGEF3	3	56789016	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	7739663	56789016	141233414	42	24997											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000466788.1_5'UTR|FHIT_ENST00000476844.1_Missense_Mutation_p.V69L|FHIT_ENST00000492590.1_Missense_Mutation_p.V69L|FHIT_ENST00000341848.4_Missense_Mutation_p.V69L			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				37	182					1.36161e-19	1.47508e-19	1	1	0	A	59999777	C	A	59999777	3	1	37	1	0	0	0	0	1	0	0	0	5910	507	18	2	254	2	FHIT	3	59999777	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	3210761	59999777	138022653	43	24998											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	1011					0	0	1	0	0	A	59365	G	A	59365	3	1	37	1	0	0	0	0	1	0	0	0	18082	1291	45	2	52	2	ZNF595	4	59365	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		59365	191094911	44	24999											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	54					0	0	1	0	0	A	952216	G	A	952216	3	1	37	1	0	0	0	0	1	0	0	0	16151	1059	37	1	1485	1	TMEM175	4	952216	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	892851	952216	190202060	45	25000											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	528					0	0	1	0	0	A	100208113	G	A	100208113	2	1	37	1	0	0	0	0	0	0	0	1	306	1252	44	2		2	ADH1A	4	100208113	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	99255897	100208113	90946163	46	25001											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	154					0	0	1	0	0	A	104104440	G	A	104104440	3	1	37	1	0	0	0	0	1	0	0	0	3252	1086	38	1	7514	1	CENPE	4	104104440	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	3896327	104104440	87049836	47	25002											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gat>g	p.AD153del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						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)					CCATTCACATCAGCAGCAGCAGC	0.34													9	295	---	---	---	---						-	146077125	CAG	-	146077123	7	5	37	1	0	1	0	1	0	0	0	0	11361	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-US-A776-01A-13D-A33T-08	41972683	146077123	45077153	48	25003											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000541126.1_Missense_Mutation_p.L113M|PDGFC_ENST00000542208.1_Missense_Mutation_p.L121M|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000422544.2_Intron	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													24	454					2.21704e-12	2.35025e-12	1	1	0	T	157689020	G	T	157689020	3	4	37	1	0	0	0	0	1	0	0	0	11706	991	35	2	219	2	PDGFC	4	157689020	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	11611897	157689020	33465256	49	25004											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000337836.5_Missense_Mutation_p.V416M|C6_ENST00000475349.1_5'UTR	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													90	137					0	0	1	0	0	T	41172372	C	T	41172372	3	4	37	1	0	0	0	0	1	0	0	0	2329	565	20	2	1598	2	C6	5	41172372	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08		41172372	139742888	50	25005											
THBS4	7060	broad.mit.edu	37	chr5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-													gatggaattggtgacgagtgTgatgatgatgatgacaatga							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgt>tg	p.CD663del	CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	663					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)		GTGACGAGTGTGATGATGATGAT	0.562													10	724	---	---	---	---						-	79372776	TGA	-	79372774	7	5	37	1	0	1	0	1	0	0	0	0	15916	1702	59	0	2051	0	THBS4	5	79372774	In_Frame_Del	DEL	TGA	TCGA-US-A776-01A-13D-A33T-08	38200402	79372774	101542486	51	25006											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000446965.1_Missense_Mutation_p.S165R|PRR16_ENST00000407149.2_Missense_Mutation_p.S235R|PRR16_ENST00000505123.1_Missense_Mutation_p.S165R	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													13	170					0	0	1	0	0	A	120022194	T	A	120022194	3	1	37	1	0	0	0	0	1	0	0	0	12641	1693	59	5	642	5	PRR16	5	120022194	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	40649420	120022194	60893066	52	25007											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000507835.1_Silent_p.H39H|FBN2_ENST00000508989.1_Silent_p.H1156H|FBN2_ENST00000262464.4_Silent_p.H1189H			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													7	154					0	0	1	0	0	A	127673720	G	A	127673720	2	1	37	1	0	0	0	0	0	0	0	1	5736	1136	40	1		1	FBN2	5	127673720	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	7651526	127673720	53241540	53	25008											
PCDHB2	0	broad.mit.edu	37	chr5	140474589	140474590	+	Frame_Shift_Ins	INS	-	-	A													gccagggtcgtttccaaaggINSaaaaaaaatgcatttgcagt							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:140474589_140474590insA	ENST00000194155.4	+	1	363_364	c.215_216insA	c.(214-216)gaafs	p.E72fs		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		72	Cadherin 1.				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)			GTTTCCAAAGGAAAAAAAATGC	0.525													17	285	---	---	---	---						A	140474590	-	A	140474589	7	5	37	1	0	1	1	0	0	0	0	0	11589	1174	41	0	217	0	PCDHB2	5	140474589	Frame_Shift_Ins	INS	-	TCGA-US-A776-01A-13D-A33T-08	12800869	140474589	40440671	54	25009											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	325					0	0	1	0	0	C	140595334	G	C	140595334	3	2	37	1	0	0	0	0	1	0	0	0	11585	1261	44	5	1641	5	PCDHB13	5	140595334	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	120745	140595334	40319926	55	25010											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000394226.2_Missense_Mutation_p.P408L|ZNF300_ENST00000274599.5_Missense_Mutation_p.P408L|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.P372L	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													6	252					0	0	1	0	0	A	150275578	G	A	150275578	3	1	37	1	0	0	0	0	1	0	0	0	17888	1116	39	1	595	1	ZNF300	5	150275578	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	9680244	150275578	30639682	56	25011											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000455880.2_Missense_Mutation_p.R349W|GLRA1_ENST00000545569.1_Missense_Mutation_p.R266W	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													19	612					0	0	1	0	0	A	151208496	G	A	151208496	3	1	37	1	0	0	0	0	1	0	0	0	6496	1086	38	1	336	1	GLRA1	5	151208496	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	932918	151208496	29706764	57	25012											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.F122S|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													84	382					0	0	1	0	0	C	153789282	T	C	153789282	3	2	37	1	0	0	0	0	1	0	0	0	6248	1783	62	3	1380	3	GALNT10	5	153789282	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	2580786	153789282	27125978	58	25013											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													172	215					0	0	1	0	0	C	159822466	T	C	159822466	3	2	37	1	0	0	0	0	1	0	0	0	2325	1406	49	3	1756	3	C5orf54	5	159822466	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	6033184	159822466	21092794	59	25014											
GABBR1	0	broad.mit.edu	37	chr6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-													tcataagcaaggaagattccCagcagcagcagcagcccctt							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)del	p.L783del	GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					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.L783M(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)	GGAAGATTCCCAGCAGCAGCAGC	0.512													9	340	---	---	---	---						-	29573438	CAG	-	29573436	7	5	37	1	0	1	0	1	0	0	0	0	6190	581	21	0	552	0	GABBR1	6	29573436	In_Frame_Del	DEL	CAG	TCGA-US-A776-01A-13D-A33T-08		29573436	141541631	60	25015											
UBR2	23304	broad.mit.edu	37	chr6	42620380	42620380	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtcagagtccatgctgcaAagggtaggtttgaagacatt	13	6	1	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:42620380A>G	ENST00000372899.1	+	25	3024	c.2766A>G	c.(2764-2766)caA>caG	p.Q922Q	UBR2_ENST00000372883.3_Silent_p.Q426Q|UBR2_ENST00000372901.1_Silent_p.Q922Q	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	922					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)			CCATGCTGCAAAGGGTAGGTT	0.358													5	513					0	0	1	0	0	G	42620380	A	G	42620380	2	3	37	1	0	0	0	0	0	0	0	1	16963	11	1	3		3	UBR2	6	42620380	Silent	SNP	A	TCGA-US-A776-01A-13D-A33T-08	13046944	42620380	128494687	61	25016											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	154					0	0	1	0	0	C	42713174	T	C	42713174	3	2	37	1	0	0	0	0	1	0	0	0	15691	1725	60	3	406	3	TBCC	6	42713174	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	92794	42713174	128401893	62	25017											
RUNX2	860	broad.mit.edu	37	chr6	45390445	45390445	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacagcagcagcagcaAcagcagcagcagcagcagca	11	14	0	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:45390445A>G	ENST00000371438.1	+	2	532	c.174A>G	c.(172-174)caA>caG	p.Q58Q	RUNX2_ENST00000576263.1_Silent_p.Q58Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RUNX2_ENST00000352853.5_Silent_p.Q126Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000541979.1_Silent_p.Q126Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	58	Poly-Gln.				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						agcagcagcaacagcagcagc	0.731													7	244					0	0	1	0	0	G	45390445	A	G	45390445	2	3	37	1	0	0	0	0	0	0	0	1	13800	40	2	3		3	RUNX2	6	45390445	Silent	SNP	A	TCGA-US-A776-01A-13D-A33T-08	2677271	45390445	125724622	63	25018											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_001615.1	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													118	216					0	0	1	0	0	T	106987378	A	T	106987378	3	4	37	1	0	0	0	0	1	0	0	0	427	217	8	5	3621	5	AIM1	6	106987378	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	61596933	106987378	64127689	64	25019											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													99	65					1.14069e-49	1.28068e-49	1	1	0	A	142539725	C	A	142539725	3	1	37	1	0	0	0	0	1	0	0	0	17293	565	20	2	899	2	VTA1	6	142539725	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	35552347	142539725	28575342	65	25020											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361719.2_Missense_Mutation_p.R305H|GRM1_ENST00000492807.2_Missense_Mutation_p.R305H|GRM1_ENST00000355289.4_Missense_Mutation_p.R305H|GRM1_ENST00000507907.1_Missense_Mutation_p.R305H|GRM1_ENST00000282753.1_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													11	178					0	0	1	0	0	A	146480697	G	A	146480697	3	1	37	1	0	0	0	0	1	0	0	0	6837	1087	38	1	920	1	GRM1	6	146480697	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	3940972	146480697	24634370	66	25021											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539869.2_Missense_Mutation_p.L201I|PDE10A_ENST00000354448.4_Missense_Mutation_p.L191I			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													54	116					0	0	1	0	0	T	165846554	A	T	165846554	3	4	37	1	0	0	0	0	1	0	0	0	11677	69	3	5	1832	5	PDE10A	6	165846554	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	19365857	165846554	5268513	67	25022											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536091.1_Missense_Mutation_p.A192T|RADIL_ENST00000538469.1_5'UTR	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													58	85					0	0	1	0	0	T	4876198	C	T	4876198	3	4	37	1	0	0	0	0	1	0	0	0	13049	768	27	1	2705	1	RADIL	7	4876198	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08		4876198	154262465	68	25023											
GTF2I	2969	broad.mit.edu	37	chr7	74148279	74148279	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcagacatgagcttctgaAttcaacacgtgaagatttac	7	8	3	5			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:74148279A>G	ENST00000324896.4	+	16	1708	c.1319A>G	c.(1318-1320)aAt>aGt	p.N440S	GTF2I_ENST00000416070.1_Missense_Mutation_p.N399S|GTF2I_ENST00000353920.4_Missense_Mutation_p.N420S|GTF2I_ENST00000346152.4_Missense_Mutation_p.N419S	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	440					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	p.N440S(7)		NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						GAGCTTCTGAATTCAACACGT	0.358													5	449					0	0	1	0	0	G	74148279	A	G	74148279	3	3	37	1	0	0	0	0	1	0	0	0	6908	101	4	3	1377	3	GTF2I	7	74148279	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	69272081	74148279	84990384	69	25024											
PCLO	27445	broad.mit.edu	37	chr7	82595446	82595447	+	Frame_Shift_Ins	INS	-	-	T													ttttcttcttcagggattagINSttttttttcttcagggagtg							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:82595446_82595447insT	ENST00000423517.2	-	4	3994_3995	c.3657_3658insA	c.(3655-3660)aataatfs	p.NN1219fs	PCLO_ENST00000333891.8_Frame_Shift_Ins_p.NN1219fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1158					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						TCAGGGATTAGTTTTTTTTCTT	0.386													7	851	---	---	---	---						T	82595447	-	T	82595446	7	5	37	1	0	1	1	0	0	0	0	0	11630	1020	36	0	11875	0	PCLO	7	82595446	Frame_Shift_Ins	INS	-	TCGA-US-A776-01A-13D-A33T-08	8447167	82595446	76543217	70	25025											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000414498.1_Missense_Mutation_p.K163M|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_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													135	111					0	0	1	0	0	A	87912452	T	A	87912452	3	1	37	1	0	0	0	0	1	0	0	0	15336	1609	56	5	903	5	STEAP4	7	87912452	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	5317006	87912452	71226211	71	25026											
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-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	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													8	1009					0	0	1	0	0	G	99913460	A	G	99913460	2	3	37	1	0	0	0	0	0	0	0	1	15088	175	7	3		3	SPDYE3	7	99913460	Silent	SNP	A	TCGA-US-A776-01A-13D-A33T-08	12001008	99913460	59225203	72	25027											
MEPCE	56257	broad.mit.edu	37	chr7	100028823	100028825	+	In_Frame_Del	DEL	CCA	CCA	-													cgagggagttggggaggccgCcaccaccaccaccacccact					rs71555278		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:100028823_100028825delCCA	ENST00000310512.2	+	1	1570_1572	c.1182_1184delCCA	c.(1180-1185)cgc>cg	p.RH394del	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	394							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)					GGGGAGGCCGCCACCACCACCAC	0.581													10	367	---	---	---	---						-	100028825	CCA	-	100028823	7	5	37	1	0	1	0	1	0	0	0	0	9527	726	26	0	1184	0	MEPCE	7	100028823	In_Frame_Del	DEL	CCA	TCGA-US-A776-01A-13D-A33T-08	115363	100028823	59109840	73	25028											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:100361458C>T	ENST00000542585.1	+	0	4164				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_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)			GTGAATTCCCCGTCTTGTGAT	0.562													42	547					0	0	1	0	0	T	100361458	C	T	100361458	1	4	37	0	1	0	0	0	0	0	0	0	17573	652	23	1		1	ZAN	7	100361458	RNA	SNP	C	TCGA-US-A776-01A-13D-A33T-08	332635	100361458	58777205	74	25029											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													147	863					0	0	1	0	0	A	100773787	G	A	100773787	2	1	37	1	0	0	0	0	0	0	0	1	14165	1045	37	1		1	SERPINE1	7	100773787	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	412329	100773787	58364876	75	25030											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	292					0	0	1	0	0	A	130025029	G	A	130025029	3	1	37	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	29251242	130025029	29113634	76	25031											
NUP205	23165	broad.mit.edu	37	chr7	135282924	135282924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtgtttctacgattccGtacaagagcttaccggagag	10	10	2	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:135282924G>A	ENST00000285968.6	+	15	2269	c.2243G>A	c.(2242-2244)cGt>cAt	p.R748H	NUP205_ENST00000440390.2_3'UTR	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	748					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						CTACGATTCCGTACAAGAGCT	0.428													6	876					0	0	1	0	0	A	135282924	G	A	135282924	3	1	37	1	0	0	0	0	1	0	0	0	10807	1145	40	1	2301	1	NUP205	7	135282924	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	5257895	135282924	23855739	77	25032											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	279					5.50884e-06	5.71715e-06	1	1	0	A	156994419	C	A	156994419	3	1	37	1	0	0	0	0	1	0	0	0	16942	913	32	2	1378	2	UBE3C	7	156994419	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	21711495	156994419	2144244	78	25033											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													30	854					0	0	1	0	0	T	72981266	C	T	72981266	3	4	37	1	0	0	0	0	1	0	0	0	16638	507	18	2	3023	2	TRPA1	8	72981266	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08		72981266	73382756	79	25034											
OSR2	116039	broad.mit.edu	37	chr8	99961405	99961405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcacggagatggcggcggcGcagggcctcgtggacgcgcg	19	12	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:99961405G>A	ENST00000297565.4	+	2	721	c.225G>A	c.(223-225)gcG>gcA	p.A75A	OSR2_ENST00000522510.1_Silent_p.A75A|OSR2_ENST00000457907.2_Silent_p.A196A|OSR2_ENST00000435298.2_Silent_p.A75A|OSR2_ENST00000523368.1_Silent_p.A75A	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	75					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)			TGGCGGCGGCGCAGGGCCTCG	0.657													5	185					0	0	1	0	0	A	99961405	G	A	99961405	2	1	37	1	0	0	0	0	0	0	0	1	11341	1074	38	1		1	OSR2	8	99961405	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	26980139	99961405	46402617	80	25035											
GPR20	2843	broad.mit.edu	37	chr8	142367908	142367908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctcctcgtccagccggGcaaacaggtggaacaggggc	15	13	0	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:142367908G>A	ENST00000377741.3	-	2	206	c.116C>T	c.(115-117)gCc>gTc	p.A39V		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	39						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GTCCAGCCGGGCAAACAGGTG	0.692													4	166					0	0	1	0	0	A	142367908	G	A	142367908	3	1	37	1	0	0	0	0	1	0	0	0	6720	1203	42	2	964	2	GPR20	8	142367908	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	42406503	142367908	3996114	81	25036											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:144681830C>T	ENST00000321385.3	+	1	1757	c.1610C>T	c.(1609-1611)cCg>cTg	p.P537L	TIGD5_ENST00000504548.2_Missense_Mutation_p.P586L			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													25	62					0	0	1	0	0	T	144681830	C	T	144681830	3	4	37	1	0	0	0	0	1	0	0	0	15959	652	23	1	1759	1	TIGD5	8	144681830	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	2313922	144681830	1682192	82	25037											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.G351S	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													9	194					0	0	1	0	0	T	37518160	C	T	37518160	3	4	37	1	0	0	0	0	1	0	0	0	5759	623	22	2	406	2	FBXO10	9	37518160	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08		37518160	103695271	83	25038											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	441					0	0	1	0	0	T	70871889	C	T	70871889	2	4	37	1	0	0	0	0	0	0	0	1	2732	518	18	2		2	CBWD3	9	70871889	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	33353729	70871889	70341542	84	25039											
ECM2	1842	broad.mit.edu	37	chr9	95277132	95277134	+	In_Frame_Del	DEL	CCT	CCT	-													atcctcctcaccctcctcacCctcctcctcctcatcctcct							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:95277132_95277134delCCT	ENST00000344604.5	-	4	982_984	c.833_835delAGG	c.(832-837)ggt>g	p.EG278del	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.EG256del	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	278	Poly-Glu.				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						ccctcctcaccctcctcctcctc	0.611													7	495	---	---	---	---						-	95277134	CCT	-	95277132	7	5	37	1	0	1	0	1	0	0	0	0	4924	623	22	0	1292	0	ECM2	9	95277132	In_Frame_Del	DEL	CCT	TCGA-US-A776-01A-13D-A33T-08	24405243	95277132	45936299	85	25040											
NR4A3	0	broad.mit.edu	37	chr9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-													cgcccagctaccatcaccatCaccaccaccaccaccaccac							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:102590616_102590618delCAC	ENST00000330847.1	+	2	369_371	c.325_327delCAC	c.(325-327)del	p.H119del	NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108					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)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma								10	213	---	---	---	---						-	102590618	CAC	-	102590616	7	5	37	1	0	1	0	1	0	0	0	0	10682	826	29	0	331	0	NR4A3	9	102590616	In_Frame_Del	DEL	CAC	TCGA-US-A776-01A-13D-A33T-08	7313484	102590616	38622815	86	25041											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	489					0	0	1	0	0	T	113169444	C	T	113169444	2	4	37	1	0	0	0	0	0	0	0	1	15476	854	30	2		2	SVEP1	9	113169444	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	10578828	113169444	28043987	87	25042											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467910.1_5'UTR|SURF4_ENST00000485435.2_Intron	NM_033161.2	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													76	82					0	0	1	0	0	T	136230524	A	T	136230524	3	4	37	1	0	0	0	0	1	0	0	0	15461	14	1	5	158	5	SURF4	9	136230524	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	23061080	136230524	4982907	88	25043											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	64					0	0	1	0	0	A	139262214	G	A	139262214	3	1	37	1	0	0	0	0	1	0	0	0	2670	1087	38	1	543	1	CARD9	9	139262214	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	3031690	139262214	1951217	89	25044											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000317350.4_Silent_p.S362S|PFKFB3_ENST00000379782.3_Silent_p.S362S|PFKFB3_ENST00000360521.2_Silent_p.S362S|PFKFB3_ENST00000379785.1_Silent_p.S362S|PFKFB3_ENST00000536985.1_Intron|PFKFB3_ENST00000379789.4_Silent_p.S342S|PFKFB3_ENST00000540253.1_Silent_p.S376S	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													45	48					0	0	1	0	0	T	6264820	C	T	6264820	2	4	37	1	0	0	0	0	0	0	0	1	11810	668	24	2		2	PFKFB3	10	6264820	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08		6264820	129269927	90	25045											
SYT15	83849	broad.mit.edu	37	chr10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-													cagcagcttgccccgatcaaCagcagcagcagcagcccccc							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:46969401_46969403delCAG	ENST00000374325.3	-	2	210_212	c.58_60delCTG	c.(58-60)del	p.L21del	SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631													8	159	---	---	---	---						-	46969403	CAG	-	46969401	7	5	37	1	0	1	0	1	0	0	0	0	15528	465	17	0	1287	0	SYT15	10	46969401	In_Frame_Del	DEL	CAG	TCGA-US-A776-01A-13D-A33T-08	40704581	46969401	88565346	91	25046											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000399169.4_Missense_Mutation_p.V344I|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.V234I	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													4	251					0	0	1	0	0	A	70644582	G	A	70644582	3	1	37	1	0	0	0	0	1	0	0	0	15375	1145	40	1	1040	1	STOX1	10	70644582	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	23675181	70644582	64890165	92	25047											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	278					0	0	1	0	0	T	103907024	C	T	103907024	2	4	37	1	0	0	0	0	0	0	0	1	12459	697	25	2		2	PPRC1	10	103907024	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	33262442	103907024	31627723	93	25048											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:124402694G>A	ENST00000368909.3	+	53	7128	c.7022G>A	c.(7021-7023)cGc>cAc	p.R2341H	DMBT1_ENST00000368956.2_Missense_Mutation_p.R1713H|DMBT1_ENST00000338354.3_Missense_Mutation_p.R2341H|DMBT1_ENST00000368955.3_Missense_Mutation_p.R2331H|DMBT1_ENST00000344338.3_Missense_Mutation_p.R2331H|DMBT1_ENST00000359586.6_Missense_Mutation_p.R1061H|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1713H	NM_007329.2	NP_015568.2	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													65	211					0	0	1	0	0	A	124402694	G	A	124402694	3	1	37	1	0	0	0	0	1	0	0	0	4605	1087	38	1	7232	1	DMBT1	10	124402694	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	20495670	124402694	11132053	94	25049											
AP2A2	161	broad.mit.edu	37	chr11	970195	970195	+	Frame_Shift_Del	DEL	A	A	-													aggctcttgatggctatagtAaaaaaaagtacgtctgcaag							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:970195delA	ENST00000448903.2	+	3	304	c.163delA	c.(163-165)aafs	p.K57fs	AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	57	Lipid-binding.				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	p.K57fs*24(1)		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)		TGGCTATAGTAAAAAAAAGTA	0.488													7	607	---	---	---	---						-	970195	A	-	970195	7	5	37	1	0	1	0	1	0	0	0	0	736	363	13	0	173	0	AP2A2	11	970195	Frame_Shift_Del	DEL	A	TCGA-US-A776-01A-13D-A33T-08		970195	134036321	95	25050											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	443					1.15088e-07	1.20452e-07	1	1	0	A	5905894	C	A	5905894	2	1	37	1	0	0	0	0	0	0	0	1	11164	784	28	2		2	OR52E4	11	5905894	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	4935699	5905894	129100622	96	25051											
OR52B2	255725	broad.mit.edu	37	chr11	6191262	6191262	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagccttgggtgacacAggcatcaaaagcaatgttat	10	7	1	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:6191262A>T	ENST00000530810.1	-	1	376	c.295T>A	c.(295-297)Tgt>Agt	p.C99S	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGTGACACAGGCATCAAAA	0.512													5	520					0	0	1	0	0	T	6191262	A	T	6191262	3	4	37	1	0	0	0	0	1	0	0	0	11159	188	7	5	679	5	OR52B2	11	6191262	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	285368	6191262	128815254	97	25052											
OR10A2	341276	broad.mit.edu	37	chr11	6891253	6891255	+	In_Frame_Del	DEL	TTC	TTC	-													gctgtgccactcagatgtatTtcttcttcttctttggagtg							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:6891253_6891255delTTC	ENST00000307322.4	+	1	330_332	c.268_270delTTC	c.(268-270)del	p.F94del		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGATGTATTTCTTCTTCTTCT	0.517													7	744	---	---	---	---						-	6891255	TTC	-	6891253	7	5	37	1	0	1	0	1	0	0	0	0	10938	1841	64	0	270	0	OR10A2	11	6891253	In_Frame_Del	DEL	TTC	TCGA-US-A776-01A-13D-A33T-08	699991	6891253	128115263	98	25053											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													46	364					1.7489e-18	1.88637e-18	1	1	0	T	7982120	G	T	7982120	3	4	37	1	0	0	0	0	1	0	0	0	10519	942	33	2	932	2	NLRP10	11	7982120	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	1090867	7982120	127024396	99	25054											
TMEM41B	440026	broad.mit.edu	37	chr11	9308017	9308018	+	Frame_Shift_Ins	INS	-	-	A													ttacctagaaaagtaccaatINSaaaaaaaactttcaatggca							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:9308017_9308018insA	ENST00000528080.1	-	6	1028_1029	c.690_691insT	c.(688-693)ttttggfs	p.W231fs	TMEM41B_ENST00000527813.1_Intron	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	231						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)		AAAGTACCAATAAAAAAAACTT	0.361													8	504	---	---	---	---						A	9308018	-	A	9308017	7	5	37	1	0	1	1	0	0	0	0	0	16225	1406	49	0	192	0	TMEM41B	11	9308017	Frame_Shift_Ins	INS	-	TCGA-US-A776-01A-13D-A33T-08	1325897	9308017	125698499	100	25055											
MICALCL	84953	broad.mit.edu	37	chr11	12316344	12316345	+	In_Frame_Ins	INS	-	-	CTC													cacctccctgcgccaggcagINSctcctcctcctcctcctcct					rs3841216		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:12316344_12316345insCTC	ENST00000256186.2	+	3	1657_1658	c.1366_1367insCTC	c.(1366-1368)tcc>CTCtcc	p.455_456insL		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	455					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)		GCGCCAGGCAGctcctcctcct	0.604													9	134	---	---	---	---						CTC	12316345	-	CTC	12316344	7	5	37	1	0	1	1	0	0	0	0	0	9620	971	34	0	1372	0	MICALCL	11	12316344	In_Frame_Ins	INS	-	TCGA-US-A776-01A-13D-A33T-08	3008327	12316344	122690172	101	25056											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	206					0	0	1	0	0	C	22297720	A	C	22297720	3	2	37	1	0	0	0	0	1	0	0	0	694	72	3	3	2577	3	ANO5	11	22297720	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	9981376	22297720	112708796	102	25057											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.P440L|PRDM11_ENST00000530656.1_Missense_Mutation_p.P474L|CTD-2560E9.3_ENST00000527450.1_RNA			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													15	723					0	0	1	0	0	T	45246344	C	T	45246344	3	4	37	1	0	0	0	0	1	0	0	0	12504	623	22	2	1447	2	PRDM11	11	45246344	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	22948624	45246344	89760172	103	25058											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	OR8I2_ENST00000560768.1_Missense_Mutation_p.S64R			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													12	365					1.61879e-10	1.70872e-10	1	1	0	A	55860975	C	A	55860975	3	1	37	1	0	0	0	0	1	0	0	0	11287	709	25	2	194	2	OR8I2	11	55860975	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	10614631	55860975	79145541	104	25059											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.R389W	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													14	59					0	0	1	0	0	A	76371472	G	A	76371472	3	1	37	1	0	0	0	0	1	0	0	0	9032	1086	38	1	827	1	LRRC32	11	76371472	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	20510497	76371472	58635044	105	25060											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	192					0	0	1	0	0	T	89405142	C	T	89405142	1	4	37	0	1	0	0	0	0	0	0	0	6013	565	20	2		2	FOLH1B	11	89405142	RNA	SNP	C	TCGA-US-A776-01A-13D-A33T-08	13033670	89405142	45601374	106	25061											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000042.3	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)			114	13					0	0	1	0	0	G	108158373	T	G	108158373	4	3	37	1	0	0	0	0	0	1	0	0	1108	1764	61	3	4142	3	ATM	11	108158373	Nonsense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	18753231	108158373	26848143	107	25062											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FDXACB1_ENST00000542429.1_Missense_Mutation_p.S285I|ALG9_ENST00000524880.1_Intron|ALG9_ENST00000527377.1_Intron	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													71	217					3.94896e-32	4.35444e-32	1	1	0	A	111746220	C	A	111746220	3	1	37	1	0	0	0	0	1	0	0	0	5839	797	28	2	577	2	FDXACB1	11	111746220	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	3587847	111746220	23260296	108	25063											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	401					0	0	1	0	0	T	121031073	C	T	121031073	3	4	37	1	0	0	0	0	1	0	0	0	15806	652	23	1	4973	1	TECTA	11	121031073	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	9284853	121031073	13975443	109	25064											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352618.4_Missense_Mutation_p.K283N|RAD51AP1_ENST00000321524.7_Intron|RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.K165N	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													92	935					0	0	1	0	0	C	4665646	G	C	4665646	3	2	37	1	0	0	0	0	1	0	0	0	13038	933	33	5	934	5	RAD51AP1	12	4665646	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		4665646	129186249	110	25065											
IFFO1	25900	broad.mit.edu	37	chr12	6649704	6649706	+	In_Frame_Del	DEL	GGC	GGC	-													cggagtcctcagcctcgcttGgcggcggcggcgggtcgcta					rs144019095		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:6649704_6649706delGGC	ENST00000436152.2	-	11	1273_1275	c.714_716delGCC	c.(712-717)cca>cc	p.PP238del	IFFO1_ENST00000356896.4_In_Frame_Del_p.PP545del|IFFO1_ENST00000465801.1_In_Frame_Del_p.PP237del|IFFO1_ENST00000396840.2_In_Frame_Del_p.PP541del|IFFO1_ENST00000336604.4_In_Frame_Del_p.PP544del			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	541						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						AGCCTCGCTTGGCGGCGGCGGCG	0.601													7	1286	---	---	---	---						-	6649706	GGC	-	6649704	7	5	37	1	0	1	0	1	0	0	0	0	7554	1348	47	0	58	0	IFFO1	12	6649704	In_Frame_Del	DEL	GGC	TCGA-US-A776-01A-13D-A33T-08	1984058	6649704	127202191	111	25066											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													35	703					0	0	1	0	0	T	6952186	C	T	6952186	3	4	37	1	0	0	0	0	1	0	0	0	6561	536	19	1	159	1	GNB3	12	6952186	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	302482	6952186	126899709	112	25067											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000436789.1_Missense_Mutation_p.L205H|LRRC23_ENST00000433346.1_Missense_Mutation_p.L205H|LRRC23_ENST00000323702.5_Missense_Mutation_p.L205H|LRRC23_ENST00000443597.2_Missense_Mutation_p.L205H|LRRC23_ENST00000429740.1_Intron	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													21	1019					0	0	1	0	0	A	7016602	T	A	7016602	3	1	37	1	0	0	0	0	1	0	0	0	9023	1551	54	5	628	5	LRRC23	12	7016602	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	64416	7016602	126835293	113	25068											
LRRC23	10233	broad.mit.edu	37	chr12	7023138	7023138	+	Frame_Shift_Del	DEL	T	T	-													cagagaacagaggatgcctgTttttgccccaaagctggaaa							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:7023138delT	ENST00000323702.5	+	7	954	c.842delT	c.(841-843)gtfs	p.V281fs	LRRC23_ENST00000443597.2_3'UTR|LRRC23_ENST00000429740.1_Frame_Shift_Del_p.F192fs|LRRC23_ENST00000007969.8_3'UTR	NM_006992.3	NP_008923.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	0	LRRCT.									NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						AGGATGCCTGTTTTTGCCCCA	0.567													8	2389	---	---	---	---						-	7023138	T	-	7023138	7	5	37	1	0	1	0	1	0	0	0	0	9023	1725	60	0	1142	0	LRRC23	12	7023138	Frame_Shift_Del	DEL	T	TCGA-US-A776-01A-13D-A33T-08	6536	7023138	126828757	114	25069											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	320					0	0	1	0	0	T	21693480	C	T	21693480	3	4	37	1	0	0	0	0	1	0	0	0	6954	536	19	1	450	1	GYS2	12	21693480	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	14670342	21693480	112158415	115	25070											
KCNH3	23416	broad.mit.edu	37	chr12	49943989	49943989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcactgtctctggccctgCggcccgccttctgcacgccg	13	18	2	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:49943989C>T	ENST00000257981.6	+	10	2055	c.1795C>T	c.(1795-1797)Cgg>Tgg	p.R599W		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	599					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						TCTGGCCCTGCGGCCCGCCTT	0.672													4	227					0	0	1	0	0	T	49943989	C	T	49943989	3	4	37	1	0	0	0	0	1	0	0	0	8077	759	27	1	1833	1	KCNH3	12	49943989	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	28250509	49943989	83907906	116	25071											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	40					0	0	1	0	0	T	81205274	C	T	81205274	2	4	37	1	0	0	0	0	0	0	0	1	8851	796	28	2		2	LIN7A	12	81205274	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	31261285	81205274	52646621	117	25072											
USP44	84101	broad.mit.edu	37	chr12	95926776	95926776	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgagcgtcttgttgggcGtaaccacgaaaggcaggaat	13	9	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:95926776G>A	ENST00000258499.3	-	2	1545	c.1257C>T	c.(1255-1257)taC>taT	p.Y419Y	USP44_ENST00000552440.1_Silent_p.Y419Y|USP44_ENST00000537435.2_Silent_p.Y419Y|USP44_ENST00000393091.2_Silent_p.Y419Y	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	419					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						CTTGTTGGGCGTAACCACGAA	0.438													5	362					0	0	1	0	0	A	95926776	G	A	95926776	2	1	37	1	0	0	0	0	0	0	0	1	17135	1140	40	1		1	USP44	12	95926776	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	14721502	95926776	37925119	118	25073											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000538618.1_Silent_p.K282K|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Silent_p.K116K	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)			176	220					0	0	1	0	0	A	101336205	G	A	101336205	2	1	37	1	0	0	0	0	0	0	0	1	693	1020	36	2		2	ANO4	12	101336205	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	5409429	101336205	32515690	119	25074											
POLR3B	55703	broad.mit.edu	37	chr12	106820980	106820980	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttttttagcttttAtctcttctttttgaagactt	3	5	2	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:106820980A>T	ENST00000228347.4	+	13	1329	c.1107A>T	c.(1105-1107)ttA>ttT	p.L369F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L311F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	369					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						TTTAGCTTTTATCTCTTCTTT	0.269													8	56					0	0	1	0	0	T	106820980	A	T	106820980	3	4	37	1	0	0	0	0	1	0	0	0	12277	446	16	5	1157	5	POLR3B	12	106820980	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	5484775	106820980	27030915	120	25075											
POP5	51367	broad.mit.edu	37	chr12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-													tctgcagcctcctcacctgaCtcctcctcctcctctaataa							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:121017154_121017156delCTC	ENST00000341039.2	-	4	323_325	c.307_309delGAG	c.(307-309)del	p.E103del	POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	153					tRNA processing		protein binding|ribonuclease P activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517													8	483	---	---	---	---						-	121017156	CTC	-	121017154	7	5	37	1	0	1	0	1	0	0	0	0	12301	564	20	0	36	0	POP5	12	121017154	In_Frame_Del	DEL	CTC	TCGA-US-A776-01A-13D-A33T-08	14196174	121017154	12834741	121	25076											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377071.4_3'UTR|KDM2B_ENST00000377069.4_3'UTR|KDM2B_ENST00000542973.1_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													14	293					0	0	1	0	0	A	121867911	G	A	121867911	3	1	37	1	0	0	0	0	1	0	0	0	13541	1044	36	2		2	RNF34	12	121867911	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	850757	121867911	11983984	122	25077											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377071.4_Missense_Mutation_p.M1191T|KDM2B_ENST00000542973.1_Missense_Mutation_p.M559T	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													48	191					0	0	1	0	0	G	121878657	A	G	121878657	3	3	37	1	0	0	0	0	1	0	0	0	8169	217	8	3	502	3	KDM2B	12	121878657	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	10746	121878657	11973238	123	25078											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													82	109					0	0	1	0	0	A	122213529	G	A	122213529	3	1	37	1	0	0	0	0	1	0	0	0	16094	1132	40	1	967	1	TMEM120B	12	122213529	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	334872	122213529	11638366	124	25079											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													40	741					0	0	1	0	0	A	25264838	T	A	25264838	3	1	37	1	0	0	0	0	1	0	0	0	1121	1522	53	5	804	5	ATP12A	13	25264838	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08		25264838	89905040	125	25080											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													204	186					0	0	1	0	0	A	25272866	G	A	25272866	3	1	37	1	0	0	0	0	1	0	0	0	1121	1087	38	1	1647	1	ATP12A	13	25272866	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	8028	25272866	89897012	126	25081											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	243					0	0	1	0	0	C	25480968	T	C	25480968	3	2	37	1	0	0	0	0	1	0	0	0	3256	1725	60	3	2852	3	CENPJ	13	25480968	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	208102	25480968	89688910	127	25082											
TSC22D1	8848	broad.mit.edu	37	chr13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-													gttgctgttgttgttgttgtTgctgctgctgctgctgcacc					rs112613609		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)caa>ca	p.QQ507del	TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	507	Gln-rich.				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)		ttgttgttgttgctgctgctgct	0.507													10	514	---	---	---	---						-	45148708	TGC	-	45148706	7	5	37	1	0	1	0	1	0	0	0	0	16668	1812	63	0	1857	0	TSC22D1	13	45148706	In_Frame_Del	DEL	TGC	TCGA-US-A776-01A-13D-A33T-08	19667738	45148706	70021172	128	25083											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													16	294					0	0	1	0	0	G	33147660	C	G	33147660	3	3	37	1	0	0	0	0	1	0	0	0	452	709	25	5	2900	5	AKAP6	14	33147660	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08		33147660	74201880	129	25084											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000404301.2_Silent_p.A198A|RGS6_ENST00000407322.4_Silent_p.A198A|RGS6_ENST00000343854.6_Silent_p.A198A|RGS6_ENST00000555571.1_Silent_p.A198A|RGS6_ENST00000556437.1_Silent_p.A198A|RGS6_ENST00000406236.4_Silent_p.A198A|RGS6_ENST00000355512.6_Silent_p.A198A|RGS6_ENST00000434263.2_Silent_p.A129A|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000402788.2_Silent_p.A198A|RGS6_ENST00000553525.1_Silent_p.A198A|RGS6_ENST00000554782.1_Silent_p.A59A	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													23	589					0	0	1	0	0	T	72939637	C	T	72939637	2	4	37	1	0	0	0	0	0	0	0	1	13359	668	24	2		2	RGS6	14	72939637	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	39791977	72939637	34409903	130	25085											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000544985.1_Missense_Mutation_p.V4A|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.V1009A|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.V1009A|MLH3_ENST00000238662.7_Missense_Mutation_p.V1009A	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)					79	378					0	0	1	0	0	G	75513333	A	G	75513333	3	3	37	1	0	0	0	0	1	0	0	0	9666	391	14	3	1383	3	MLH3	14	75513333	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	2573696	75513333	31836207	131	25086											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	804					0	0	1	0	0	G	105207231	A	G	105207231	3	3	37	1	0	0	0	0	1	0	0	0	347	217	8	3	991	3	ADSSL1	14	105207231	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	29693898	105207231	2142309	132	25087											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													13	194					0	0	1	0	0	T	105396428	C	T	105396428	3	4	37	1	0	0	0	0	1	0	0	0	12096	759	27	1	721	1	PLD4	14	105396428	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	189197	105396428	1953112	133	25088											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000441322.1_Missense_Mutation_p.G289R|CKMT1B_ENST00000413657.2_Missense_Mutation_p.G152R	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													135	31					0	0	1	0	0	C	43888718	G	C	43888718	3	2	37	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	134	25089											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:52667657G>A	ENST00000399231.3	-	20	2664	c.2420_splice	c.e20-1	p.C807_splice	MYO5A_ENST00000553916.1_Splice_Site_p.C807_splice|MYO5A_ENST00000358212.6_Splice_Site_p.C807_splice|MYO5A_ENST00000356338.6_Splice_Site_p.C807_splice|MYO5A_ENST00000399233.2_Splice_Site_p.C807_splice	NM_000259.3	NP_000250.3	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													4	162					0	0	1	0	0	A	52667657	G	A	52667657	5	1	37	1	0	0	0	0	0	0	1	0	10126	985	34	2	3234	2	MYO5A	15	52667657	Splice_Site	SNP	G	TCGA-US-A776-01A-13D-A33T-08	8778939	52667657	49863735	135	25090											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	325					0	0	1	0	0	T	59179218	C	T	59179218	3	4	37	1	0	0	0	0	1	0	0	0	14808	922	32	2	325	2	SLTM	15	59179218	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	6511561	59179218	43352174	136	25091											
NARG2	79664	broad.mit.edu	37	chr15	60745782	60745782	+	Frame_Shift_Del	DEL	A	A	-													aagtacattccccttaggggAaaaaaaaagcattacatacg							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:60745782delA	ENST00000561114.1	-	9	1307	c.1145delT	c.(1144-1146)tcfs	p.F382fs	NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron	NM_001276385.1	NP_001263314.1	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	0						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						CCCTTAGGGGAAAAAAAAAGC	0.338													9	151	---	---	---	---						-	60745782	A	-	60745782	7	5	37	1	0	1	0	1	0	0	0	0	10217	261	9	0		0	NARG2	15	60745782	Frame_Shift_Del	DEL	A	TCGA-US-A776-01A-13D-A33T-08	1566564	60745782	41785610	137	25092											
SLC24A1	9187	broad.mit.edu	37	chr15	65943128	65943130	+	In_Frame_Del	DEL	GAG	GAG	-													aggaggaagagcaggaggaaGaggaggaggaggaggaggaa							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:65943128_65943130delGAG	ENST00000261892.6	+	7	2928_2930	c.2641_2643delGAG	c.(2641-2643)del	p.E890del	SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000449142.2_3'UTR	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	890	Poly-Glu.				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						gcaggaggaagaggaggaggagg	0.562													7	143	---	---	---	---						-	65943130	GAG	-	65943128	7	5	37	1	0	1	0	1	0	0	0	0	14520	943	33	0	769	0	SLC24A1	15	65943128	In_Frame_Del	DEL	GAG	TCGA-US-A776-01A-13D-A33T-08	5197346	65943128	36588264	138	25093											
GOLGA6B	55889	broad.mit.edu	37	chr15	72954797	72954797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgctccgagagcaggaggTgcagagagtgcgggagcagg	20	7	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:72954797T>C	ENST00000421285.3	+	11	1052	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	351								p.V351A(4)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGCAGGAGGTGCAGAGAGTG	0.562													6	515					0	0	1	0	0	C	72954797	T	C	72954797	3	2	37	1	0	0	0	0	1	0	0	0	6600	1696	59	3	1094	3	GOLGA6B	15	72954797	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	7011669	72954797	29576595	139	25094											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	141					0	0	1	0	0	A	73635767	G	A	73635767	3	1	37	1	0	0	0	0	1	0	0	0	7040	1145	40	1	2471	1	HCN4	15	73635767	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	680970	73635767	28895625	140	25095											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	95					0	0	1	0	0	C	75932242	G	C	75932242	3	2	37	1	0	0	0	0	1	0	0	0	7763	1203	42	5	290	5	IMP3	15	75932242	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	2296475	75932242	26599150	141	25096											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													65	308					1.98135e-44	2.20448e-44	1	1	0	T	1306591	G	T	1306591	3	4	37	1	0	0	0	0	1	0	0	0	16486	1261	44	2	163	2	TPSD1	16	1306591	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		1306591	89048162	142	25097											
CCNF	899	broad.mit.edu	37	chr16	2487219	2487219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggctgaatgtgggtgccGcacctttcatctggctcttc	12	12	3	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:2487219G>A	ENST00000397066.4	+	5	524	c.436G>A	c.(436-438)Gca>Aca	p.A146T		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	146					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)				TGTGGGTGCCGCACCTTTCAT	0.622													5	267					0	0	1	0	0	A	2487219	G	A	2487219	3	1	37	1	0	0	0	0	1	0	0	0	2944	1087	38	1	454	1	CCNF	16	2487219	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	1180628	2487219	87867534	143	25098											
SRL	6345	broad.mit.edu	37	chr16	4242279	4242279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctcctgagtgatggcccGctcaatcttctccagaaagc	9	13	3	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:4242279G>A	ENST00000399609.3	-	6	1309	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	SRL_ENST00000537996.1_Missense_Mutation_p.R391W	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	892	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						GTGATGGCCCGCTCAATCTTC	0.547													5	303					0	0	1	0	0	A	4242279	G	A	4242279	3	1	37	1	0	0	0	0	1	0	0	0	15206	1086	38	1	128	1	SRL	16	4242279	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	1755060	4242279	86112474	144	25099											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:11855848delC	ENST00000396516.2	-	17	2328	c.2131delG	c.(2131-2133)tgfs	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													10	126	---	---	---	---						-	11855848	C	-	11855848	7	5	37	1	0	1	0	1	0	0	0	0	17631	478	17	0	808	0	ZC3H7A	16	11855848	Frame_Shift_Del	DEL	C	TCGA-US-A776-01A-13D-A33T-08	7613569	11855848	78498905	145	25100											
CCDC135	84229	broad.mit.edu	37	chr16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-													gaggtcctgagggagaaggtGgaggaggaggaggaggccga							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtg>gt	p.VE8del	RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	8						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						Gggagaaggtggaggaggaggag	0.591													10	376	---	---	---	---						-	57731887	GGA	-	57731885	7	5	37	1	0	1	0	1	0	0	0	0	2787	1335	47	0	26	0	CCDC135	16	57731885	In_Frame_Del	DEL	GGA	TCGA-US-A776-01A-13D-A33T-08	45876037	57731885	32622868	146	25101											
TEPP	374739	broad.mit.edu	37	chr16	58011728	58011728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccccccagctatggcccGcatcattgacctggtgccct	9	18	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:58011728G>A	ENST00000290871.5	+	2	210	c.173G>A	c.(172-174)cGc>cAc	p.R58H	TEPP_ENST00000569996.1_Intron|TEPP_ENST00000441824.2_Missense_Mutation_p.R58H	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	58						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						GCTATGGCCCGCATCATTGAC	0.632													7	657					0	0	1	0	0	A	58011728	G	A	58011728	3	1	37	1	0	0	0	0	1	0	0	0	15819	1087	38	1	179	1	TEPP	16	58011728	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	279843	58011728	32343025	147	25102											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000245138.4_Silent_p.V971V|CNOT1_ENST00000569240.1_Silent_p.V2115V	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													41	202					0	0	1	0	0	T	58562472	C	T	58562472	2	4	37	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	550744	58562472	31792281	148	25103											
FHOD1	29109	broad.mit.edu	37	chr16	67267845	67267846	+	Frame_Shift_Ins	INS	-	-	G													tgggtgggggaggtggaagtINSgggggaggggggggtactcc							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:67267845_67267846insG	ENST00000258201.4	-	13	2007_2008	c.1760_1761insC	c.(1759-1761)cctfs	p.P587fs	FHOD1_ENST00000567687.1_Frame_Shift_Ins_p.P166fs	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	587	FH1.|Poly-Pro.				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)		GAGGTGGAAGTGGGGGAGGGGG	0.639													7	85	---	---	---	---						G	67267846	-	G	67267845	7	5	37	1	0	1	1	0	0	0	0	0	5915	1683	59	0	1773	0	FHOD1	16	67267845	Frame_Shift_Ins	INS	-	TCGA-US-A776-01A-13D-A33T-08	8705373	67267845	23086908	149	25104											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415766.3_Missense_Mutation_p.R288W|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.R357W	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													60	97					0	0	1	0	0	T	67859904	C	T	67859904	3	4	37	1	0	0	0	0	1	0	0	0	16693	527	19	1	933	1	TSNAXIP1	16	67859904	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	592059	67859904	22494849	150	25105											
COTL1	23406	broad.mit.edu	37	chr16	84600451	84600451	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtggcgggggctggggTtactccgtctgggcgtcgta	20	8	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:84600451T>G	ENST00000262428.4	-	4	591	c.429A>C	c.(427-429)taA>taC	p.*143Y	COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y|COTL1_ENST00000567278.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	0						cytoplasm|cytoskeleton	actin binding|enzyme binding			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GGGGCTGGGGTTACTCCGTCT	0.622													9	86					0	0	1	0	0	G	84600451	T	G	84600451	4	3	37	1	0	0	0	0	0	0	0	0	3784	1732	60	3	3	3	COTL1	16	84600451	Nonstop_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	16740547	84600451	5754302	151	25106											
CA5A	763	broad.mit.edu	37	chr16	87936059	87936059	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acacgcctatcacagccaaaCcattctctcccacgacagct	4	18	2	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:87936059C>G	ENST00000309893.2	-	4	592	c.527G>C	c.(526-528)gGt>gCt	p.G176A		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	176					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		CACAGCCAAACCATTCTCTCC	0.368													4	211					0	0	1	0	0	G	87936059	C	G	87936059	3	3	37	1	0	0	0	0	1	0	0	0	2537	507	18	5	406	5	CA5A	16	87936059	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	3335608	87936059	2418694	152	25107											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000576742.1_Missense_Mutation_p.P424L|TRPV3_ENST00000572519.1_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													220	283					0	0	1	0	0	A	3432261	G	A	3432261	3	1	37	1	0	0	0	0	1	0	0	0	16658	1116	39	1	1137	1	TRPV3	17	3432261	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		3432261	77762949	153	25108											
SMTNL2	342527	broad.mit.edu	37	chr17	4510712	4510712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacatgatggtgatgggccGcaagccggaccccatgtgtg	16	10	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:4510712G>A	ENST00000389313.4	+	8	1383	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	SMTNL2_ENST00000338859.4_Missense_Mutation_p.R295H	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	439	CH.									breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		GTGATGGGCCGCAAGCCGGAC	0.582													6	814					0	0	1	0	0	A	4510712	G	A	4510712	3	1	37	1	0	0	0	0	1	0	0	0	14870	1087	38	1	1346	1	SMTNL2	17	4510712	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	1078451	4510712	76684498	154	25109											
DHX33	56919	broad.mit.edu	37	chr17	5372038	5372038	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcggctgctgcctccggcCtcctcctcctcctctgccgc	11	21	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:5372038C>A	ENST00000225296.3	-	1	342	c.142G>T	c.(142-144)Ggc>Tgc	p.G48C	DHX33_ENST00000433302.3_Missense_Mutation_p.G48C	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	48						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGCCTCCGGCCTCCTCCTCCT	0.721													11	132					0.0167234	0.0167914	1	1	0	A	5372038	C	A	5372038	3	1	37	1	0	0	0	0	1	0	0	0	4534	681	24	2	2029	2	DHX33	17	5372038	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	861326	5372038	75823172	155	25110											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_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													8	212					0	0	1	0	0	A	10416957	G	A	10416957	3	1	37	1	0	0	0	0	1	0	0	0	10077	971	34	2	5156	2	MYH1	17	10416957	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	5044919	10416957	70778253	156	25111											
GRB7	2886	broad.mit.edu	37	chr17	37902199	37902199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaactctggttccacgggcGcatttcccgtgaggagagcc	12	14	1	2	rs149195822		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:37902199G>A	ENST00000309156.4	+	13	1561	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H	GRB7_ENST00000394204.1_Intron|GRB7_ENST00000309185.3_Intron|GRB7_ENST00000394211.3_Missense_Mutation_p.R435H|GRB7_ENST00000445327.2_Missense_Mutation_p.R458H|GRB7_ENST00000394209.2_Missense_Mutation_p.R435H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	435	SH2.				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	p.R435H(1)		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)			TTCCACGGGCGCATTTCCCGT	0.622													6	720					0	0	1	0	0	A	37902199	G	A	37902199	3	1	37	1	0	0	0	0	1	0	0	0	6800	1087	38	1	1350	1	GRB7	17	37902199	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	27485242	37902199	43293011	157	25112											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	145					0	0	1	0	0	T	40321553	C	T	40321553	3	4	37	1	0	0	0	0	1	0	0	0	8078	768	27	1	1553	1	KCNH4	17	40321553	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	2419354	40321553	40873657	158	25113											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000590099.1_Missense_Mutation_p.R114Q|BECN1_ENST00000438274.3_Intron	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													21	195					0	0	1	0	0	T	40970815	C	T	40970815	3	4	37	1	0	0	0	0	1	0	0	0	1394	884	31	1	1043	1	BECN1	17	40970815	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	649262	40970815	40224395	159	25114											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000518766.1_Missense_Mutation_p.R575C|MPP2_ENST00000461854.1_Missense_Mutation_p.R554C|MPP2_ENST00000377184.3_Missense_Mutation_p.R547C|MPP2_ENST00000536246.1_Missense_Mutation_p.R519C|MPP2_ENST00000520305.1_Missense_Mutation_p.R391C|MPP2_ENST00000523501.1_Missense_Mutation_p.R519C	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	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													128	192					0	0	1	0	0	A	41955246	G	A	41955246	3	1	37	1	0	0	0	0	1	0	0	0	9783	1116	39	1	74	1	MPP2	17	41955246	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	984431	41955246	39239964	160	25115											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)	3	40					0	0	1	0	0	T	45776015	C	T	45776015	3	4	37	1	0	0	0	0	1	0	0	0	15698	759	27	1	522	1	TBKBP1	17	45776015	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	3820769	45776015	35419195	161	25116											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	26					0	0	1	0	0	G	48212935	C	G	48212935	3	3	37	1	0	0	0	0	1	0	0	0	12428	855	30	5	78	5	PPP1R9B	17	48212935	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	2436920	48212935	32982275	162	25117											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000589210.1_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													8	816					0	0	1	0	0	A	74077738	G	A	74077738	3	1	37	1	0	0	0	0	1	0	0	0	17570	1087	38	1	808	1	ZACN	17	74077738	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	25864803	74077738	7117472	163	25118											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	SMCHD1_ENST00000261598.8_Missense_Mutation_p.E850K|RP11-703M24.5_ENST00000583546.1_RNA	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													91	1504					0	0	1	0	0	A	2722606	G	A	2722606	3	1	37	1	0	0	0	0	1	0	0	0	14842	1291	45	2	2626	2	SMCHD1	18	2722606	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		2722606	75354642	164	25119											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr18:9279616G>A	ENST00000383440.2	+	11	6165	c.5908G>A	c.(5908-5910)Gtg>Atg	p.V1970M	ANKRD12_ENST00000400020.3_Missense_Mutation_p.V1970M|ANKRD12_ENST00000262126.3_Missense_Mutation_p.V1993M	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1993						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													8	399					0	0	1	0	0	A	9279616	G	A	9279616	3	1	37	1	0	0	0	0	1	0	0	0	636	1377	48	2	6019	2	ANKRD12	18	9279616	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	6557010	9279616	68797632	165	25120											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000586866.1_Silent_p.P104P|HMHA1_ENST00000590214.1_Silent_p.P127P|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000539243.2_Silent_p.P116P	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													6	122					0	0	1	0	0	A	1068622	G	A	1068622	2	1	37	1	0	0	0	0	0	0	0	1	7281	1103	39	1		1	HMHA1	19	1068622	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08		1068622	58060361	166	25121											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	104					0	0	1	0	0	A	38966037	G	A	38966037	3	1	37	1	0	0	0	0	1	0	0	0	13820	1145	40	1	4354	1	RYR1	19	38966037	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	37897415	38966037	20162946	167	25122											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000595425.1_Missense_Mutation_p.A27V|ATP5SL_ENST00000301183.11_Missense_Mutation_p.A33V|ATP5SL_ENST00000592922.2_Missense_Mutation_p.A27V|ATP5SL_ENST00000590641.2_Missense_Mutation_p.A33V|ATP5SL_ENST00000589970.1_Missense_Mutation_p.A27V|ATP5SL_ENST00000438807.3_Missense_Mutation_p.A27V|ATP5SL_ENST00000417807.3_Missense_Mutation_p.A33V|ATP5SL_ENST00000597457.1_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													5	242					0	0	1	0	0	A	41944258	G	A	41944258	3	1	37	1	0	0	0	0	1	0	0	0	1162	1087	38	1	713	1	ATP5SL	19	41944258	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	2978221	41944258	17184725	168	25123											
ARHGEF1	0	broad.mit.edu	37	chr19	42409182	42409182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacagactgtgtcggagcGgaaaaagtgagggggggtct	19	6	1	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:42409182G>A	ENST00000599846.1	+	24	2536	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R715Q|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R748Q|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R763Q|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R730Q			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	748					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)		GTGTCGGAGCGGAAAAAGTGA	0.602													4	197					0	0	1	0	0	A	42409182	G	A	42409182	3	1	37	1	0	0	0	0	1	0	0	0	890	1116	39	1	2378	1	ARHGEF1	19	42409182	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	464924	42409182	16719801	169	25124											
PSG7	5676	broad.mit.edu	37	chr19	43440068	43440069	+	RNA	DEL	AC	AC	-													acacacacacacacacacaaAcacacacacacacatataaa					rs72310923		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:43440068_43440069delAC	ENST00000406070.2	-	0	161				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)				acacacacaaacacacacacac	0.495													8	117	---	---	---	---						-	43440069	AC	-	43440068	6	5	37	0	1	1	0	1	0	0	0	0	12709	58	2	0		0	PSG7	19	43440068	RNA	DEL	AC	TCGA-US-A776-01A-13D-A33T-08	1030886	43440068	15688915	170	25125											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000253435.7_Nonsense_Mutation_p.S196*|TEX101_ENST00000601707.1_3'UTR	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													17	353					8.28177e-16	8.8554e-16	1	1	0	A	43922332	C	A	43922332	4	1	37	1	0	0	0	0	0	1	0	0	15832	893	31	4	609	4	TEX101	19	43922332	Nonsense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	482264	43922332	15206651	171	25126											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000391956.4_Missense_Mutation_p.R348I|ZNF180_ENST00000592529.1_Missense_Mutation_p.R346I	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													16	427					5.01169e-05	5.15787e-05	1	1	0	A	44981580	C	A	44981580	3	1	37	1	0	0	0	0	1	0	0	0	17806	913	32	2	964	2	ZNF180	19	44981580	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	1059248	44981580	14147403	172	25127											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:48981402G>A	ENST00000427476.1	+	9	1188	c.888_splice	c.e9+1	p.T296_splice	CYTH2_ENST00000452733.2_Splice_Site_p.T295_splice	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													20	224					0	0	1	0	0	A	48981402	G	A	48981402	5	1	37	1	0	0	0	0	0	0	1	0	4227	1130	39	1	922	1	CYTH2	19	48981402	Splice_Site	SNP	G	TCGA-US-A776-01A-13D-A33T-08	3999822	48981402	10147581	173	25128											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													43	244					0	0	1	0	0	T	51021944	C	T	51021944	2	4	37	1	0	0	0	0	0	0	0	1	9052	755	27	1		1	LRRC4B	19	51021944	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	2040542	51021944	8107039	174	25129											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000593901.1_Missense_Mutation_p.L162V|SYT3_ENST00000600079.1_Missense_Mutation_p.L162V|SYT3_ENST00000544769.1_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													51	144					0	0	1	0	0	C	51135733	A	C	51135733	3	2	37	1	0	0	0	0	1	0	0	0	15532	69	3	3	1316	3	SYT3	19	51135733	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	113789	51135733	7993250	175	25130											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000593901.1_Silent_p.G113G|SYT3_ENST00000600079.1_Silent_p.G113G|SYT3_ENST00000544769.1_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													9	151					0	0	1	0	0	A	51135878	G	A	51135878	2	1	37	1	0	0	0	0	0	0	0	1	15532	1074	38	1		1	SYT3	19	51135878	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	145	51135878	7993105	176	25131											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	323					0	0	1	0	0	T	56467042	C	T	56467042	3	4	37	1	0	0	0	0	1	0	0	0	10530	768	27	1	1628	1	NLRP8	19	56467042	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	5331164	56467042	2661941	177	25132											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	324					0	0	1	0	0	A	3682127	G	A	3682127	3	1	37	1	0	0	0	0	1	0	0	0	14360	1145	40	1	3803	1	SIGLEC1	20	3682127	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		3682127	59343393	178	25133											
MOCS3	27304	broad.mit.edu	37	chr20	49576053	49576053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtggcccttgctatcgctGcatattcccccaaccacccc	7	19	0	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:49576053G>A	ENST00000244051.1	+	1	691	c.674G>A	c.(673-675)tGc>tAc	p.C225Y		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	225					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						TGCTATCGCTGCATATTCCCC	0.647													5	408					0	0	1	0	0	A	49576053	G	A	49576053	3	1	37	1	0	0	0	0	1	0	0	0	9741	1319	46	2	676	2	MOCS3	20	49576053	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	45893926	49576053	13449467	179	25134											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000371085.3_Missense_Mutation_p.R201C|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C	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)			140	94					0	0	1	0	0	T	57484420	C	T	57484420	3	4	37	1	0	0	0	0	1	0	0	0	6552	652	23	1	3448	1	GNAS	20	57484420	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	7908367	57484420	5541100	180	25135											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	65					0.00024832	0.000252408	1	1	0	A	60891034	C	A	60891034	3	1	37	1	0	0	0	0	1	0	0	0	8648	739	26	2	3342	2	LAMA5	20	60891034	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	3406614	60891034	2134486	181	25136											
RPS21	6227	broad.mit.edu	37	chr20	60963367	60963367	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttttttcttaagggTgagtcagatgattccattct	7	5	3	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:60963367T>G	ENST00000450116.2	+	4	210	c.189T>G	c.(187-189)ggT>ggG	p.G63G	RPS21_ENST00000343986.4_Silent_p.G63G|RPS21_ENST00000492356.2_3'UTR|RPS21_ENST00000370562.1_3'UTR			P63220	RS21_HUMAN	ribosomal protein S21	63					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)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein N-terminus binding|structural constituent of ribosome	p.G63G(1)		endometrium(2)|lung(1)|prostate(1)	4	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TTCTTAAGGGTGAGTCAGATG	0.522													10	69					0	0	1	0	0	G	60963367	T	G	60963367	2	3	37	1	0	0	0	0	0	0	0	1	13685	1683	59	3		3	RPS21	20	60963367	Silent	SNP	T	TCGA-US-A776-01A-13D-A33T-08	72333	60963367	2062153	182	25137											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Missense_Mutation_p.R184C			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													19	386					0	0	1	0	0	T	45732983	C	T	45732983	3	4	37	1	0	0	0	0	1	0	0	0	11812	652	23	1	568	1	PFKL	21	45732983	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08		45732983	2396912	183	25138											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000468429.1_3'UTR|PCBP3_ENST00000400304.1_Missense_Mutation_p.K318Q|PCBP3_ENST00000400308.1_Missense_Mutation_p.K302Q|PCBP3_ENST00000400309.1_Missense_Mutation_p.K327Q|PCBP3_ENST00000400310.1_Missense_Mutation_p.K308Q|PCBP3_ENST00000449640.1_Missense_Mutation_p.K328Q			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													39	254					0	0	1	0	0	C	47360016	A	C	47360016	3	2	37	1	0	0	0	0	1	0	0	0	11549	131	5	3	1032	3	PCBP3	21	47360016	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	1627033	47360016	769879	184	25139											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000353891.5_Missense_Mutation_p.R1094W|CLTCL1_ENST00000427926.1_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								3	40					0	0	1	0	0	A	19196594	G	A	19196594	3	1	37	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	185	25140											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000405089.1_Silent_p.A438A|AIFM3_ENST00000333607.6_Silent_p.A432A|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Silent_p.A432A|AIFM3_ENST00000335375.5_Silent_p.A420A	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													5	333					0	0	1	0	0	T	21332002	C	T	21332002	2	4	37	1	0	0	0	0	0	0	0	1	425	581	21	2		2	AIFM3	22	21332002	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	2135408	21332002	29972564	186	25141											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	194					0	0	1	0	0	A	1471384	G	A	1471384	3	1	37	1	0	0	0	0	1	0	0	0	7739	1145	40	1	619	1	IL3RA	23	1471384	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		1471384	153799176	187	25142											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	929					0	0	1	0	0	A	10090710	G	A	10090710	3	1	37	1	0	0	0	0	1	0	0	0	17473	1087	38	1	1724	1	WWC3	23	10090710	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	8619326	10090710	145179850	188	25143											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													31	253					0	0	1	0	0	A	10094325	G	A	10094325	2	1	37	1	0	0	0	0	0	0	0	1	17473	1074	38	1		1	WWC3	23	10094325	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	3615	10094325	145176235	189	25144											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													10	89					0	0	1	0	0	T	21675080	C	T	21675080	3	4	37	1	0	0	0	0	1	0	0	0	8430	652	23	1	1111	1	KLHL34	23	21675080	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	11580755	21675080	133595480	190	25145											
RBM10	8241	broad.mit.edu	37	chrX	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-													gactatcggaccgagcaaggGgaggaggaggaggaggagga							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggg>gg	p.GE112del	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_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	112					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						CCGAGCAAGGggaggaggaggag	0.66													7	79	---	---	---	---						-	47030563	GGA	-	47030561	7	5	37	1	0	1	0	1	0	0	0	0	13163	1219	43	0	346	0	RBM10	23	47030561	In_Frame_Del	DEL	GGA	TCGA-US-A776-01A-13D-A33T-08	25355481	47030561	108239999	191	25146											
PHF8	23133	broad.mit.edu	37	chrX	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-													tgttcatccagactggcgttCtcctcctcctcctcgctctc							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:54011405_54011407delCTC	ENST00000338154.6	-	18	2887_2889	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831	Ser-rich.				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						GACTGGCGTTCTCCTCCTCCTCC	0.591													10	353	---	---	---	---						-	54011407	CTC	-	54011405	7	5	37	1	0	1	0	1	0	0	0	0	11888	912	32	0	835	0	PHF8	23	54011405	In_Frame_Del	DEL	CTC	TCGA-US-A776-01A-13D-A33T-08	6980844	54011405	101259155	192	25147											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													152	298					0	0	1	0	0	A	100547881	G	A	100547881	2	1	37	1	0	0	0	0	0	0	0	1	15590	1074	38	1		1	TAF7L	23	100547881	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	46536476	100547881	54722679	193	25148											
ARMCX3	51566	broad.mit.edu	37	chrX	100880152	100880154	+	In_Frame_Del	DEL	TGA	TGA	-													gccaggtataatgactggtcTgatgatgatgatgacagcaa							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:100880152_100880154delTGA	ENST00000341189.4	+	5	1049_1051	c.183_185delTGA	c.(181-186)tct>tc	p.SD61del	ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del|ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	61						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATGACTGGTCTGATGATGATGAT	0.517													7	401	---	---	---	---						-	100880154	TGA	-	100880152	7	5	37	1	0	1	0	1	0	0	0	0	960	1567	55	0	185	0	ARMCX3	23	100880152	In_Frame_Del	DEL	TGA	TCGA-US-A776-01A-13D-A33T-08	332271	100880152	54390408	194	25149											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539306.1_Silent_p.R181R|ATP1B4_ENST00000361319.3_Silent_p.R220R	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													90	170					0	0	1	0	0	T	119509336	C	T	119509336	2	4	37	1	0	0	0	0	0	0	0	1	1134	784	28	2		2	ATP1B4	23	119509336	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	18629184	119509336	35761224	195	25150											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	293					0	0	1	0	0	A	149013926	G	A	149013926	3	1	37	1	0	0	0	0	1	0	0	0	9219	1261	44	2	882	2	MAGEA8	23	149013926	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	29504590	149013926	6256634	196	25151											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													4	135					0	0	1	0	0	A	150156360	G	A	150156360	2	1	37	1	0	0	0	0	0	0	0	1	7268	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	1142434	150156360	5114200	197	25152											
AJAP1	55966	broad.mit.edu	37	chr1	4772583	4772585	+	In_Frame_Del	DEL	CCA	CCA	-													acggaagacaactgtggccgCcaccaccaccaccaccacca					rs141981296	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:4772583_4772585delCCA	ENST00000378191.4	+	2	1034_1036	c.653_655delCCA	c.(652-657)gcc>g	p.AT218del	AJAP1_ENST00000378190.3_In_Frame_Del_p.AT218del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	218	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		p.T225_A226insT(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)		ACTGTGGccgccaccaccaccac	0.635													11	98	---	---	---	---						-	4772585	CCA	-	4772583	7	5	38	1	0	1	0	1	0	0	0	0	435	739	26	0	659	0	AJAP1	1	4772583	In_Frame_Del	DEL	CCA	TCGA-US-A779-01A-11D-A32N-08		4772583	244478038	1	25153											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													75	246					0	0	1	0	0	C	24447351	T	C	24447351	3	2	38	1	0	0	0	0	1	0	0	0	7717	1696	59	3	59	3	IL22RA1	1	24447351	Missense_Mutation	SNP	T	TCGA-US-A779-01A-11D-A32N-08	19674768	24447351	224803270	2	25154											
B4GALT2	8704	broad.mit.edu	37	chr1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-													atgccctccacccagctgctAgcagcagcagcagcagcagc					rs72406230		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)del	p.S65del	B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					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)	CCCAGCTGCTagcagcagcagca	0.685													8	371	---	---	---	---						-	44447009	AGC	-	44447007	7	5	38	1	0	1	0	1	0	0	0	0	1269	420	15	0	177	0	B4GALT2	1	44447007	In_Frame_Del	DEL	AGC	TCGA-US-A779-01A-11D-A32N-08	19999656	44447007	204803614	3	25155											
FNDC7	163479	broad.mit.edu	37	chr1	109270513	109270513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtctcctgtccgtggtgccGaactgtatgaaaccaaggct	12	11	1	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:109270513G>A	ENST00000370017.3	+	7	1472	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	FNDC7_ENST00000271311.2_Missense_Mutation_p.E400K	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	400	Fibronectin type-III 5.					extracellular region		p.E166*(1)|p.E399*(1)		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)		CCGTGGTGCCGAACTGTATGA	0.512													6	391					0	0	1	0	0	A	109270513	G	A	109270513	3	1	38	1	0	0	0	0	1	0	0	0	6006	1059	37	1	1221	1	FNDC7	1	109270513	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	64823506	109270513	139980108	4	25156											
TCHH	7062	broad.mit.edu	37	chr1	152082220	152082220	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctggcgccttctcttctccGgttcctctctcagcagctgc	8	18	4	0	rs113946258		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:152082220G>C	ENST00000368804.1	-	2	3472	c.3473C>G	c.(3472-3474)cCg>cGg	p.P1158R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1158	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)			TCTCTTCTCCGGTTCCTCTCT	0.592													7	274					0	0	1	0	0	C	152082220	G	C	152082220	3	2	38	1	0	0	0	0	1	0	0	0	15760	1116	39	5	2362	5	TCHH	1	152082220	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	42811707	152082220	97168401	5	25157											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	14	12	0	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		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)			gctgctgttgctgctgctgct	0.642													7	296					0	0	1	0	0	T	153907309	C	T	153907309	2	4	38	1	0	0	0	0	0	0	0	1	4462	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	1825089	153907309	95343312	6	25158											
ARHGEF11	9826	broad.mit.edu	37	chr1	156914961	156914961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcactggtcccgggcccgGcacagcttctcatgctcaga	12	16	2	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:156914961G>A	ENST00000368194.3	-	30	3880	c.2841C>T	c.(2839-2841)tgC>tgT	p.C947C	ARHGEF11_ENST00000361409.2_Silent_p.C907C|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Silent_p.C323C	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	907					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)					CCCGGGCCCGGCACAGCTTCT	0.552													6	427					0	0	1	0	0	A	156914961	G	A	156914961	2	1	38	1	0	0	0	0	0	0	0	1	893	1195	42	2		2	ARHGEF11	1	156914961	Silent	SNP	G	TCGA-US-A779-01A-11D-A32N-08	3007652	156914961	92335660	7	25159											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000429375.2_Intron|POU2F1_ENST00000420254.3_Missense_Mutation_p.A158D|POU2F1_ENST00000541643.3_Missense_Mutation_p.A158D|POU2F1_ENST00000452019.1_Missense_Mutation_p.A158D|POU2F1_ENST00000367866.2_Missense_Mutation_p.A181D|POU2F1_ENST00000367865.1_3'UTR	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													5	150					1	1	1	1	0	A	167343484	C	A	167343484	3	1	38	1	0	0	0	0	1	0	0	0	12317	739	26	2	491	2	POU2F1	1	167343484	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	10428523	167343484	81907137	8	25160											
PRG4	10216	broad.mit.edu	37	chr1	186276040	186276040	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaccactcccaaggagcctGcacccaccaccaccaaggag	7	20	0	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:186276040G>T	ENST00000445192.2	+	7	1234	c.1189G>T	c.(1189-1191)Gca>Tca	p.A397S	PRG4_ENST00000367484.3_Missense_Mutation_p.A356S|PRG4_ENST00000367483.4_Missense_Mutation_p.A356S|PRG4_ENST00000367485.4_Missense_Mutation_p.A304S|PRG4_ENST00000367486.3_Missense_Mutation_p.A354S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	397	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						CAAGGAGCCTGCACCCACCAC	0.642													6	513					5.9392e-07	6.2057e-07	1	1	0	T	186276040	G	T	186276040	3	4	38	1	0	0	0	0	1	0	0	0	12533	1319	46	2	1211	2	PRG4	1	186276040	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	18932556	186276040	62974581	9	25161											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													114	335					0	0	1	0	0	C	196714957	A	C	196714957	2	2	38	1	0	0	0	0	0	0	0	1	3305	233	9	3		3	CFH	1	196714957	Silent	SNP	A	TCGA-US-A779-01A-11D-A32N-08	10438917	196714957	52535664	10	25162											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000344029.6_Missense_Mutation_p.G88R|SUSD4_ENST00000366878.4_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													109	332					0	0	1	0	0	T	223465880	C	T	223465880	3	4	38	1	0	0	0	0	1	0	0	0	15466	661	23	1	1391	1	SUSD4	1	223465880	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	26750923	223465880	25784741	11	25163											
LGALS8	3964	broad.mit.edu	37	chr1	236711360	236711360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggttgcagtaaatggcGtacacagcctggagtacaaa	11	8	1	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:236711360G>A	ENST00000526589.1	+	14	1499	c.979G>A	c.(979-981)Gta>Ata	p.V327I	LGALS8_ENST00000366584.4_Missense_Mutation_p.V285I|LGALS8_ENST00000416919.2_Missense_Mutation_p.V268I|LGALS8_ENST00000450372.2_Missense_Mutation_p.V327I|LGALS8_ENST00000352231.2_Missense_Mutation_p.V327I|LGALS8_ENST00000525042.1_Missense_Mutation_p.V268I|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000341872.6_Missense_Mutation_p.V285I|LGALS8_ENST00000323938.6_Missense_Mutation_p.V258I|LGALS8_ENST00000526634.1_Missense_Mutation_p.V285I|LGALS8_ENST00000527974.1_Missense_Mutation_p.V327I			O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	285						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)			AGTAAATGGCGTACACAGCCT	0.388													4	164					0	0	1	0	0	A	236711360	G	A	236711360	3	1	38	1	0	0	0	0	1	0	0	0	8787	1145	40	1	1017	1	LGALS8	1	236711360	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	13245480	236711360	12539261	12	25164											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_000673.2	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													24	69					0	0	1	0	0	T	96780765	C	T	96780765	3	4	38	1	0	0	0	0	1	0	0	0	337	739	26	2	223	2	ADRA2B	2	96780765	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08		96780765	146418608	13	25165											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000474820.1_5'UTR|RBMS1_ENST00000409289.2_Missense_Mutation_p.K129R|RBMS1_ENST00000409972.1_Missense_Mutation_p.K129R|RBMS1_ENST00000409075.1_Missense_Mutation_p.K129R|RBMS1_ENST00000392753.3_Missense_Mutation_p.K162R	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													40	233					0	0	1	0	0	C	161159916	T	C	161159916	3	2	38	1	0	0	0	0	1	0	0	0	13200	1841	64	3	771	3	RBMS1	2	161159916	Missense_Mutation	SNP	T	TCGA-US-A779-01A-11D-A32N-08	64379151	161159916	82039457	14	25166											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_021027.2	NP_066307.1												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													5	302					0	0	1	0	0	C	234580748	T	C	234580748	2	2	38	1	0	0	0	0	0	0	0	1	17012	1799	63	3		3	UGT1A9	2	234580748	Silent	SNP	T	TCGA-US-A779-01A-11D-A32N-08	73420832	234580748	8618625	15	25167											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_014667.2	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													6	380					0	0	1	0	0	A	11643423	G	A	11643423	2	1	38	1	0	0	0	0	0	0	0	1	17221	1103	39	1		1	VGLL4	3	11643423	Silent	SNP	G	TCGA-US-A779-01A-11D-A32N-08		11643423	186379007	16	25168											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													11	420					0	0	1	0	0	T	16475456	C	T	16475456	2	4	38	1	0	0	0	0	0	0	0	1	13310	755	27	1		1	RFTN1	3	16475456	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	4832033	16475456	181546974	17	25169											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:72428210C>A	ENST00000477973.1	-	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	0					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													55	116					9.50034e-11	1.02553e-10	1	1	0	A	72428210	C	A	72428210	3	1	38	1	0	0	0	0	1	0	0	0	13818	893	31	4	279	4	RYBP	3	72428210	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	55952754	72428210	125594220	18	25170											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535920.1_Silent_p.D162D|PDZRN3_ENST00000479530.1_Silent_p.D157D|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000466780.1_Silent_p.D97D|PDZRN3_ENST00000462146.2_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													22	653					0	0	1	0	0	A	73440202	G	A	73440202	2	1	38	1	0	0	0	0	0	0	0	1	11756	1136	40	1		1	PDZRN3	3	73440202	Silent	SNP	G	TCGA-US-A779-01A-11D-A32N-08	1011992	73440202	124582228	19	25171											
DPPA2	151871	broad.mit.edu	37	chr3	109028058	109028058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttgttgacaccagtcccGcaaagtgtcccgacacacct	9	14	0	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:109028058G>A	ENST00000478945.1	-	4	547	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	101	SAP.					nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CACCAGTCCCGCAAAGTGTCC	0.453													7	735					0	0	1	0	0	A	109028058	G	A	109028058	3	1	38	1	0	0	0	0	1	0	0	0	4760	1086	38	1	615	1	DPPA2	3	109028058	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	35587856	109028058	88994372	20	25172											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000484491.1_Missense_Mutation_p.R228H|ZNF148_ENST00000468369.1_Missense_Mutation_p.R36H|ZNF148_ENST00000544464.1_Missense_Mutation_p.R23H|ZNF148_ENST00000485866.1_Missense_Mutation_p.R228H|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Missense_Mutation_p.R228H|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													51	219					0	0	1	0	0	T	124953158	C	T	124953158	3	4	38	1	0	0	0	0	1	0	0	0	17792	768	27	1	1709	1	ZNF148	3	124953158	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	15925100	124953158	73069272	21	25173											
MUC4	4585	broad.mit.edu	37	chr3	195516676	195516676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagatggggatgtggccGtttttatcatctgagtcaca	12	6	3	3			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:195516676G>A	ENST00000463781.3	-	2	2234	c.1775C>T	c.(1774-1776)aCg>aTg	p.T592M	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T592M	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	597					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)		GGATGTGGCCGTTTTTATCAT	0.493													7	1216					0	0	1	0	0	A	195516676	G	A	195516676	3	1	38	1	0	0	0	0	1	0	0	0	10026	1145	40	1		1	MUC4	3	195516676	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	70563518	195516676	2505754	22	25174											
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-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:195965646G>A	ENST00000292823.2	-	10	1189	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	PCYT1A_ENST00000431016.1_Silent_p.S339S|PCYT1A_ENST00000419333.1_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													4	257					0	0	1	0	0	A	195965646	G	A	195965646	2	1	38	1	0	0	0	0	0	0	0	1	11657	1103	39	1		1	PCYT1A	3	195965646	Silent	SNP	G	TCGA-US-A779-01A-11D-A32N-08	448970	195965646	2056784	23	25175											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543385.1_Missense_Mutation_p.G145R|RGS12_ENST00000344733.5_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													85	211					0	0	1	0	0	A	3318330	G	A	3318330	3	1	38	1	0	0	0	0	1	0	0	0	13345	1349	47	2	435	2	RGS12	4	3318330	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08		3318330	187835946	24	25176											
LRPAP1	4043	broad.mit.edu	37	chr4	3526686	3526686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccatcttcgtccaagccGtcaagctttagtttcttcca	5	15	3	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:3526686G>A	ENST00000500728.2	-	2	443	c.297C>T	c.(295-297)gaC>gaT	p.D99D	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	99					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)		CGTCCAAGCCGTCAAGCTTTA	0.522													7	1108					0	0	1	0	0	A	3526686	G	A	3526686	2	1	38	1	0	0	0	0	0	0	0	1	9009	1136	40	1		1	LRPAP1	4	3526686	Silent	SNP	G	TCGA-US-A779-01A-11D-A32N-08	208356	3526686	187627590	25	25177											
JAKMIP1	152789	broad.mit.edu	37	chr4	6082004	6082004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcattcaaggaggtatgCcgcttcagagacgcctgcgc	13	11	3	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:6082004C>T	ENST00000409021.3	-	7	1586	c.1137G>A	c.(1135-1137)cgG>cgA	p.R379R	JAKMIP1_ENST00000409371.3_Silent_p.R214R|JAKMIP1_ENST00000282924.5_Silent_p.R379R|JAKMIP1_ENST00000409831.1_Silent_p.R379R|JAKMIP1_ENST00000410077.2_Silent_p.R214R|JAKMIP1_ENST00000457227.2_5'UTR	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	379	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						AGGAGGTATGCCGCTTCAGAG	0.572													4	169					0	0	1	0	0	T	6082004	C	T	6082004	2	4	38	1	0	0	0	0	0	0	0	1	7984	726	26	2		2	JAKMIP1	4	6082004	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	2555318	6082004	185072272	26	25178											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000506140.1_Silent_p.P71P|PPP2R2C_ENST00000507294.1_Silent_p.P71P|PPP2R2C_ENST00000382599.4_Silent_p.P78P|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000515571.1_Silent_p.P61P	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													11	484					0	0	1	0	0	T	6380234	C	T	6380234	2	4	38	1	0	0	0	0	0	0	0	1	12435	639	23	1		1	PPP2R2C	4	6380234	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	298230	6380234	184774042	27	25179											
MUC7	4589	broad.mit.edu	37	chr4	71347143	71347143	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacaccagctccaccatctTcctcagctccaccagagacc	4	20	2	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:71347143T>G	ENST00000413702.1	+	4	970	c.682T>G	c.(682-684)Tcc>Gcc	p.S228A	MUC7_ENST00000304887.5_Missense_Mutation_p.S228A|MUC7_ENST00000456088.1_Missense_Mutation_p.S228A	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	228	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCCACCATCTTCCTCAGCTCC	0.582													7	783					0	0	1	0	0	G	71347143	T	G	71347143	3	3	38	1	0	0	0	0	1	0	0	0	10029	1783	62	3	688	3	MUC7	4	71347143	Missense_Mutation	SNP	T	TCGA-US-A779-01A-11D-A32N-08	64966909	71347143	119807133	28	25180											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	142					0	0	1	0	0	A	90872802	G	A	90872802	2	1	38	1	0	0	0	0	0	0	0	1	9719	1132	40	1		1	MMRN1	4	90872802	Silent	SNP	G	TCGA-US-A779-01A-11D-A32N-08	19525659	90872802	100281474	29	25181											
UNC5C	8633	broad.mit.edu	37	chr4	96140272	96140272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaggggacagcttggacGtaaactcagagaggtcatct	13	8	4	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:96140272G>A	ENST00000453304.1	-	9	1841	c.1493C>T	c.(1492-1494)aCg>aTg	p.T498M	UNC5C_ENST00000506749.1_Missense_Mutation_p.T517M	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	498					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)		CAGCTTGGACGTAAACTCAGA	0.512													5	408					0	0	1	0	0	A	96140272	G	A	96140272	3	1	38	1	0	0	0	0	1	0	0	0	17053	1145	40	1	1334	1	UNC5C	4	96140272	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	5267470	96140272	95014004	30	25182											
WWC2	80014	broad.mit.edu	37	chr4	184233566	184233566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggcaagtctccaaggacGtgtgtcggctccgggagcag	16	10	1	1	rs141307236		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:184233566G>A	ENST00000403733.3	+	22	3656	c.3457G>A	c.(3457-3459)Gtg>Atg	p.V1153M	WWC2_ENST00000448232.2_Missense_Mutation_p.V1177M|WWC2_ENST00000508747.1_Missense_Mutation_p.V281M|WWC2_ENST00000513834.1_Missense_Mutation_p.V1104M|WWC2_ENST00000504005.1_Missense_Mutation_p.V835M	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1153										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)		CTCCAAGGACGTGTGTCGGCT	0.532													5	369					0	0	1	0	0	A	184233566	G	A	184233566	3	1	38	1	0	0	0	0	1	0	0	0	17472	1145	40	1	3543	1	WWC2	4	184233566	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	88093294	184233566	6920710	31	25183											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													58	464					0	0	1	0	0	T	27420760	A	T	27420760	3	4	38	1	0	0	0	0	1	0	0	0	17809	72	3	5	1681	5	ZNF184	6	27420760	Missense_Mutation	SNP	A	TCGA-US-A779-01A-11D-A32N-08		27420760	143694307	32	25184											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													15	429					0	0	1	0	0	T	31964274	C	T	31964274	2	4	38	1	0	0	0	0	0	0	0	1	2262	535	19	1		1	C4A	6	31964274	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	4543514	31964274	139150793	33	25185											
CDK19	23097	broad.mit.edu	37	chr6	110942345	110942345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggtccacctgagtttgCgcctgaaggccctagccgtg	12	14	0	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:110942345C>T	ENST00000368911.3	-	12	1518	c.1339G>A	c.(1339-1341)Gca>Aca	p.A447T	CDK19_ENST00000323817.3_Missense_Mutation_p.A387T|CDK19_ENST00000413605.2_Missense_Mutation_p.A323T	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	447							ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CCTGAGTTTGCGCCTGAAGGC	0.552													4	243					0	0	1	0	0	T	110942345	C	T	110942345	3	4	38	1	0	0	0	0	1	0	0	0	3157	768	27	1	177	1	CDK19	6	110942345	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	78978071	110942345	60172722	34	25186											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	234					0	0	1	0	0	C	84642125	T	C	84642125	3	2	38	1	0	0	0	0	1	0	0	0	14081	1493	52	3	604	3	SEMA3D	7	84642125	Missense_Mutation	SNP	T	TCGA-US-A779-01A-11D-A32N-08		84642125	74496538	35	25187											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													42	139					0	0	1	0	0	T	120991269	A	T	120991269	2	4	38	1	0	0	0	0	0	0	0	1	5594	407	15	5		5	FAM3C	7	120991269	Silent	SNP	A	TCGA-US-A779-01A-11D-A32N-08	36349144	120991269	38147394	36	25188											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			4	98					0	0	1	0	0	A	147600759	G	A	147600759	3	1	38	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	37	25189											
CSMD1	64478	broad.mit.edu	37	chr8	2876088	2876088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgtagccggtgttgcacGtaaatatagctgtggcccca	13	10	0	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:2876088G>A	ENST00000602557.1	-	53	8498	c.7943C>T	c.(7942-7944)aCg>aTg	p.T2648M	CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2647M|CSMD1_ENST00000520002.1_Missense_Mutation_p.T2648M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2648	Sushi 17.					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)		GGTGTTGCACGTAAATATAGC	0.488													6	666					0	0	1	0	0	A	2876088	G	A	2876088	3	1	38	1	0	0	0	0	1	0	0	0	3969	1145	40	1	2830	1	CSMD1	8	2876088	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08		2876088	143487934	38	25190											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													104	404					0	0	1	0	0	T	22064900	C	T	22064900	3	4	38	1	0	0	0	0	1	0	0	0	1455	623	22	2	2606	2	BMP1	8	22064900	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	19188812	22064900	124299122	39	25191											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000455883.2_Missense_Mutation_p.R654Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R718Q	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)			58	278					0	0	1	0	0	T	113697844	C	T	113697844	3	4	38	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	91632944	113697844	32666178	40	25192											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													47	140					0	0	1	0	0	A	117869572	G	A	117869572	3	1	38	1	0	0	0	0	1	0	0	0	13033	1348	47	2	1309	2	RAD21	8	117869572	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	4171728	117869572	28494450	41	25193											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000377838.3_Silent_p.A376A	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													5	528					0	0	1	0	0	T	135614834	C	T	135614834	2	4	38	1	0	0	0	0	0	0	0	1	17690	755	27	1		1	ZFAT	8	135614834	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	17745262	135614834	10749188	42	25194											
CYHR1	50626	broad.mit.edu	37	chr8	145689774	145689775	+	Frame_Shift_Ins	INS	-	-	C													ggccctcagggccgaggtggINSccgccagccactgccagcac							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:145689774_145689775insC	ENST00000403000.2	-	2	901_902	c.314_315insG	c.(313-315)gcafs	p.A105fs	CYHR1_ENST00000424149.2_Frame_Shift_Ins_p.A105fs|CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000438911.2_Intron|CYHR1_ENST00000306145.5_Frame_Shift_Ins_p.A105fs	NM_032687.3	NP_116076.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	101						perinuclear region of cytoplasm	zinc ion binding	p.H106fs*5(1)		haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|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;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGCCGAGGTGGCCGCCAGCCAC	0.624													7	659	---	---	---	---						C	145689775	-	C	145689774	7	5	38	1	0	1	1	0	0	0	0	0	4163	1190	42	0	1122	0	CYHR1	8	145689774	Frame_Shift_Ins	INS	-	TCGA-US-A779-01A-11D-A32N-08	10074940	145689774	674248	43	25195											
FANCG	2189	broad.mit.edu	37	chr9	35074979	35074979	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggctttggtatcctggccGctggctacccattccagtcc	10	14	0	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr9:35074979G>A	ENST00000378643.3	-	12	2072	c.1581C>T	c.(1579-1581)agC>agT	p.S527S	FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	527					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)			TATCCTGGCCGCTGGCTACCC	0.547			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks					6	463					0	0	1	0	0	A	35074979	G	A	35074979	2	1	38	1	0	0	0	0	0	0	0	1	5701	1078	38	1		1	FANCG	9	35074979	Silent	SNP	G	TCGA-US-A779-01A-11D-A32N-08		35074979	106138452	44	25196											
FAM102A	399665	broad.mit.edu	37	chr9	130712784	130712784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccgtggagcccgagcccGcaaactcggccaggttcaag	13	15	1	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr9:130712784G>A	ENST00000373095.1	-	4	707	c.332C>T	c.(331-333)gCg>gTg	p.A111V	FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	111										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GCCCGAGCCCGCAAACTCGGC	0.632													7	316					0	0	1	0	0	A	130712784	G	A	130712784	3	1	38	1	0	0	0	0	1	0	0	0	5413	1087	38	1	854	1	FAM102A	9	130712784	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	95637805	130712784	10500647	45	25197											
DOLPP1	57171	broad.mit.edu	37	chr9	131847034	131847034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctcatcatatttaagcGggagctgcacacggtgagtc	11	11	2	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr9:131847034G>A	ENST00000372546.4	+	2	196	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	DOLPP1_ENST00000540102.1_5'UTR|DOLPP1_ENST00000406974.3_Missense_Mutation_p.R55Q	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	55					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity	p.R55L(1)		endometrium(3)|kidney(2)|lung(7)|skin(1)	13						ATATTTAAGCGGGAGCTGCAC	0.612													7	746					0	0	1	0	0	A	131847034	G	A	131847034	3	1	38	1	0	0	0	0	1	0	0	0	4731	1116	39	1	170	1	DOLPP1	9	131847034	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	1134250	131847034	9366397	46	25198											
ZMYND19	116225	broad.mit.edu	37	chr9	140481542	140481542	+	Frame_Shift_Del	DEL	C	C	-													cctggaagcccggggccacgCccccccggtgccgctcccta							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr9:140481542delC	ENST00000298585.2	-	4	462	c.236delG	c.(235-237)gcfs	p.G79fs	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	79						Golgi apparatus|plasma membrane	zinc ion binding	p.V80fs*34(2)		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)		CGGGGCCACGCCCCCCCGGTG	0.632													8	677	---	---	---	---						-	140481542	C	-	140481542	7	5	38	1	0	1	0	1	0	0	0	0	17768	739	26	0	459	0	ZMYND19	9	140481542	Frame_Shift_Del	DEL	C	TCGA-US-A779-01A-11D-A32N-08	8634508	140481542	731889	47	25199											
CUEDC2	79004	broad.mit.edu	37	chr10	104183257	104183257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcggcctcagggttccGcacatctttgaatcgctccc	8	17	2	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:104183257G>A	ENST00000369937.4	-	9	935	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	CUEDC2_ENST00000465409.1_5'UTR	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	264						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)		TCAGGGTTCCGCACATCTTTG	0.572											OREG0020479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	546					0	0	1	0	0	A	104183257	G	A	104183257	3	1	38	1	0	0	0	0	1	0	0	0	4076	1086	38	1	77	1	CUEDC2	10	104183257	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08		104183257	31351490	48	25200											
AFAP1L2	84632	broad.mit.edu	37	chr10	116062116	116062116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagagagagtttttggccGcactcacaatacaggagacc	10	10	1	3			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:116062116G>A	ENST00000369271.3	-	12	1712	c.1412C>T	c.(1411-1413)gCg>gTg	p.A471V	AFAP1L2_ENST00000304129.4_Missense_Mutation_p.A471V|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.A524V	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	471					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)		GTTTTTGGCCGCACTCACAAT	0.542													6	610					0	0	1	0	0	A	116062116	G	A	116062116	3	1	38	1	0	0	0	0	1	0	0	0	354	1087	38	1	1076	1	AFAP1L2	10	116062116	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	11878859	116062116	19472631	49	25201											
CDHR5	53841	broad.mit.edu	37	chr11	618994	618994	+	Frame_Shift_Del	DEL	G	G	-													aggtgctgttttctgcacccGggggccccccgggtgtggac							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:618994delG	ENST00000358353.3	-	14	1887	c.1565delC	c.(1564-1566)cgfs	p.P522fs	CDHR5_ENST00000397542.2_Frame_Shift_Del_p.P522fs|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	522					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						TTCTGCACCCGGGGGCCCCCC	0.677													10	912	---	---	---	---						-	618994	G	-	618994	7	5	38	1	0	1	0	1	0	0	0	0	3144	1116	39	0	984	0	CDHR5	11	618994	Frame_Shift_Del	DEL	G	TCGA-US-A779-01A-11D-A32N-08		618994	134387522	50	25202											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629152	1629152	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tacagcagctggactgggagCagctgggcttgcagcagctg	16	10	0	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:1629152C>G	ENST00000399685.1	-	1	541	c.464G>C	c.(463-465)tGc>tCc	p.C155S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	155	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)		GGACTGGGAGCAGCTGGGCTT	0.627													7	1110					0	0	1	0	0	G	1629152	C	G	1629152	3	3	38	1	0	0	0	0	1	0	0	0	8602	710	25	5	256	5	KRTAP5-3	11	1629152	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	1010158	1629152	133377364	51	25203											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000525166.1_Missense_Mutation_p.R3760H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3910H			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)			35	106					0	0	1	0	0	A	92599977	G	A	92599977	3	1	38	1	0	0	0	0	1	0	0	0	5724	1145	40	1	11811	1	FAT3	11	92599977	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	90970825	92599977	42406539	52	25204											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000279463.3_Missense_Mutation_p.G326D|CNTN5_ENST00000527185.1_Missense_Mutation_p.G326D|CNTN5_ENST00000528682.1_Missense_Mutation_p.G326D|CNTN5_ENST00000418526.2_Missense_Mutation_p.G252D	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													3	26					0	0	1	0	0	A	99872865	G	A	99872865	3	1	38	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	25205											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	RNA	INS	-	-	C													acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs36063533		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													7	58	---	---	---	---						C	7080213	-	C	7080212	6	5	38	0	1	1	1	0	0	0	0	0	5118	1722	60	0		0	EMG1	12	7080212	RNA	INS	-	TCGA-US-A779-01A-11D-A32N-08		7080212	126771683	54	25206											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			21	64					0	0	1	0	0	T	25398284	C	T	25398284	3	4	38	1	0	0	0	0	1	0	0	0	8481	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	18318072	25398284	108453611	55	25207											
CNTN1	1272	broad.mit.edu	37	chr12	41419066	41419066	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagacacccagtattttataGaagtcggggcctgcaatagt	10	9	0	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:41419066G>T	ENST00000551295.2	+	21	2755	c.2638G>T	c.(2638-2640)Gaa>Taa	p.E880*	CNTN1_ENST00000348761.2_Nonsense_Mutation_p.E869*|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Nonsense_Mutation_p.E880*	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	880	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)				GTATTTTATAGAAGTCGGGGC	0.488													6	901					0.00198382	0.00200846	1	1	0	T	41419066	G	T	41419066	4	4	38	1	0	0	0	0	0	1	0	0	3663	943	33	2	2716	2	CNTN1	12	41419066	Nonsense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	16020782	41419066	92432829	56	25208											
NACA	4666	broad.mit.edu	37	chr12	57111554	57111554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggggtggggtagctgggcCtccttttggggagggaggag	24	5	0	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:57111554C>T	ENST00000454682.1	-	3	4041	c.3760G>A	c.(3760-3762)Ggc>Agc	p.G1254S	NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_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						GTAGCTGGGCCTCCTTTTGGG	0.662			T	BCL6	NHL								6	608					0	0	1	0	0	T	57111554	C	T	57111554	3	4	38	1	0	0	0	0	1	0	0	0	10181	681	24	2	2504	2	NACA	12	57111554	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	15692488	57111554	76740341	57	25209											
RDH16	8608	broad.mit.edu	37	chr12	57351084	57351084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacatgcagccagcacccGcaagcctcgtgcatccagct	9	17	0	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:57351084G>A	ENST00000398138.3	-	1	1019	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	55					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						GCCAGCACCCGCAAGCCTCGT	0.587													4	284					0	0	1	0	0	A	57351084	G	A	57351084	3	1	38	1	0	0	0	0	1	0	0	0	13246	1086	38	1	806	1	RDH16	12	57351084	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	239530	57351084	76500811	58	25210											
DPY19L2	283417	broad.mit.edu	37	chr12	64061890	64061890	+	Frame_Shift_Del	DEL	T	T	-													gcgcctgcagttcctgcaccTtttcccggagctgcgccagg							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:64061890delT	ENST00000324472.4	-	1	467	c.284delA	c.(283-285)agfs	p.K95fs	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	95					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)		TTCCTGCACCTTTTCCCGGAG	0.612													8	486	---	---	---	---						-	64061890	T	-	64061890	7	5	38	1	0	1	0	1	0	0	0	0	4767	1609	56	0	2080	0	DPY19L2	12	64061890	Frame_Shift_Del	DEL	T	TCGA-US-A779-01A-11D-A32N-08	6710806	64061890	69790005	59	25211											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													74	245					0	0	1	0	0	T	70003865	C	T	70003865	3	4	38	1	0	0	0	0	1	0	0	0	9012	797	28	2	83	2	LRRC10	12	70003865	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	5941975	70003865	63848030	60	25212											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													116	275					4.64626e-59	5.04893e-59	1	1	0	T	24877207	G	T	24877207	3	4	38	1	0	0	0	0	1	0	0	0	10844	1261	44	2	337	2	NYNRIN	14	24877207	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08		24877207	82472333	61	25213											
FOXG1	2290	broad.mit.edu	37	chr14	29237469	29237469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcactttgagttacaaCggcaccacgtcggcctaccc	9	15	0	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:29237469C>T	ENST00000382535.3	+	2	1353	c.984C>T	c.(982-984)aaC>aaT	p.N328N	FOXG1_ENST00000313071.4_Silent_p.N328N			P55316	FOXG1_HUMAN	forkhead box G1	328					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)		TGAGTTACAACGGCACCACGT	0.657													7	772					0	0	1	0	0	T	29237469	C	T	29237469	2	4	38	1	0	0	0	0	0	0	0	1	6041	535	19	1		1	FOXG1	14	29237469	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	4360262	29237469	78112071	62	25214											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													12	110					0	0	1	0	0	A	74988701	G	A	74988701	3	1	38	1	0	0	0	0	1	0	0	0	9119	1087	38	1	2844	1	LTBP2	14	74988701	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	45751232	74988701	32360839	63	25215											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								10	179					0	0	1	0	0	G	92470800	C	G	92470800	3	3	38	1	0	0	0	0	1	0	0	0	16616	913	32	5	2463	5	TRIP11	14	92470800	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	17482099	92470800	14878740	64	25216											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								4	84					0	0	1	0	0	T	92470905	C	T	92470905	3	4	38	1	0	0	0	0	1	0	0	0	16616	835	29	2	2568	2	TRIP11	14	92470905	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	105	92470905	14878635	65	25217											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	425					1.12685e-05	1.14798e-05	1	1	0	A	105412407	C	A	105412407	2	1	38	1	0	0	0	0	0	0	0	1	412	610	22	2		2	AHNAK2	14	105412407	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	12941502	105412407	1937133	66	25218											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:65822970A>T	ENST00000562901.1	+	0	215				PTPLAD1_ENST00000442729.2_Start_Codon_SNP_p.M1L|PTPLAD1_ENST00000261875.5_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													12	13					0	0	1	0	0	T	65822970	A	T	65822970	1	4	38	1	0	0	0	0	0	0	0	0	12825	217	8	5		5	PTPLAD1	15	65822970	Translation_Start_Site	SNP	A	TCGA-US-A779-01A-11D-A32N-08		65822970	36708422	67	25219											
KIAA1024	23251	broad.mit.edu	37	chr15	79750585	79750586	+	Frame_Shift_Ins	INS	-	-	A													agcctgcgggtcaaggccttINSaaaaaaaagcctcttcacca							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:79750585_79750586insA	ENST00000305428.3	+	2	2171_2172	c.2096_2097insA	c.(2095-2097)taafs	p.*699fs		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	699						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						GTCAAGGCCTTAAAAAAAAGCC	0.545													8	559	---	---	---	---						A	79750586	-	A	79750585	7	5	38	1	0	1	1	0	0	0	0	0	8247	1764	61	0	2098	0	KIAA1024	15	79750585	Frame_Shift_Ins	INS	-	TCGA-US-A779-01A-11D-A32N-08	13927615	79750585	22780807	68	25220											
SRRM2	23524	broad.mit.edu	37	chr16	2806550	2806550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacatcctggaccacgagcGcaagcggcgcgtcgagctgc	14	14	0	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:2806550G>A	ENST00000301740.8	+	2	734	c.185G>A	c.(184-186)cGc>cAc	p.R62H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	62						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						GACCACGAGCGCAAGCGGCGC	0.647													4	284					0	0	1	0	0	A	2806550	G	A	2806550	3	1	38	1	0	0	0	0	1	0	0	0	15225	1087	38	1	187	1	SRRM2	16	2806550	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08		2806550	87548203	69	25221											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000536379.1_Missense_Mutation_p.R137H|MEFV_ENST00000339854.4_Missense_Mutation_p.R168H|MEFV_ENST00000541159.1_Missense_Mutation_p.R137H	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													35	115					0	0	1	0	0	T	3299648	C	T	3299648	3	4	38	1	0	0	0	0	1	0	0	0	9509	768	27	1	1334	1	MEFV	16	3299648	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	493098	3299648	87055105	70	25222											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	325					0	0	1	0	0	A	18858860	G	A	18858860	2	1	38	1	0	0	0	0	0	0	0	1	14849	962	34	2		2	SMG1	16	18858860	Silent	SNP	G	TCGA-US-A779-01A-11D-A32N-08	15559212	18858860	71495893	71	25223											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	393					0	0	1	0	0	A	84256037	G	A	84256037	3	1	38	1	0	0	0	0	1	0	0	0	8074	1116	39	1	215	1	KCNG4	16	84256037	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	65397177	84256037	6098716	72	25224											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr17:7578373delT	ENST00000420246.2	-	5	689	c.557delA	c.(556-558)gtfs	p.D186fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.D186fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.D186fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000574684.1_5'UTR	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)			94	101	---	---	---	---						-	7578373	T	-	7578373	7	5	38	1	0	1	0	1	0	0	0	0	16442	1435	50	0	741	0	TP53	17	7578373	Frame_Shift_Del	DEL	T	TCGA-US-A779-01A-11D-A32N-08		7578373	73616837	73	25225											
FOXN1	8456	broad.mit.edu	37	chr17	26861536	26861536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagatcccattgctgtgcGcaaaagcatggccaagccag	11	11	0	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr17:26861536G>A	ENST00000226247.2	+	6	1144	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	FOXN1_ENST00000579795.1_Missense_Mutation_p.R372H	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	372					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)					ATTGCTGTGCGCAAAAGCATG	0.547													4	135					0	0	1	0	0	A	26861536	G	A	26861536	3	1	38	1	0	0	0	0	1	0	0	0	6053	1087	38	1	1137	1	FOXN1	17	26861536	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	19283163	26861536	54333674	74	25226											
STXBP2	6813	broad.mit.edu	37	chr19	7707908	7707908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagatcctgaaaaagatgCcgcagtaccagaaggagctg	11	11	0	4			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:7707908C>T	ENST00000441779.2	+	12	1070	c.1033C>T	c.(1033-1035)Ccg>Tcg	p.P345S	STXBP2_ENST00000221283.5_Missense_Mutation_p.P334S|STXBP2_ENST00000414284.2_Missense_Mutation_p.P331S	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	334					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						GAAAAAGATGCCGCAGTACCA	0.607													5	373					0	0	1	0	0	T	7707908	C	T	7707908	3	4	38	1	0	0	0	0	1	0	0	0	15409	739	26	2	1046	2	STXBP2	19	7707908	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08		7707908	51421075	75	25227											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	260					0	0	1	0	0	T	9324694	C	T	9324694	3	4	38	1	0	0	0	0	1	0	0	0	11267	768	27	1	122	1	OR7D4	19	9324694	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	1616786	9324694	49804289	76	25228											
OLFM2	93145	broad.mit.edu	37	chr19	9965171	9965171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatgacctcgagggtgtgCgggtccagccggctgaccac	15	14	0	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:9965171C>T	ENST00000264833.4	-	6	1241	c.1056G>A	c.(1054-1056)ccG>ccA	p.P352P	OLFM2_ENST00000590841.1_Silent_p.P274P	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	352	Olfactomedin-like.					extracellular region		p.P352P(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CGAGGGTGTGCGGGTCCAGCC	0.642													5	336					0	0	1	0	0	T	9965171	C	T	9965171	2	4	38	1	0	0	0	0	0	0	0	1	10901	755	27	1		1	OLFM2	19	9965171	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	640477	9965171	49163812	77	25229											
YIPF2	78992	broad.mit.edu	37	chr19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-													gctgaaggtccagaatcccgGctgctgctgctgctgctgct							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)ccg>c	p.QP74del	YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621													8	257	---	---	---	---						-	11038364	GCT	-	11038362	7	5	38	1	0	1	0	1	0	0	0	0	17538	1203	42	0	751	0	YIPF2	19	11038362	In_Frame_Del	DEL	GCT	TCGA-US-A779-01A-11D-A32N-08	1073191	11038362	48090621	78	25230											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000594999.1_Silent_p.L70L|MRPL34_ENST00000252602.1_Silent_p.L70L|MRPL34_ENST00000595444.1_Silent_p.L162L|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													15	54					8.00594e-06	8.20735e-06	1	1	0	T	17417119	G	T	17417119	4	4	38	1	0	0	0	0	0	0	0	0	9846	1277	45	2	216	2	MRPL34	19	17417119	Nonstop_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	6378757	17417119	41711864	79	25231											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000552293.1_Missense_Mutation_p.R1560W|UNC13A_ENST00000519716.2_Missense_Mutation_p.R1566W|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													7	520					0	0	1	0	0	A	17720864	G	A	17720864	3	1	38	1	0	0	0	0	1	0	0	0	17044	1115	39	1	423	1	UNC13A	19	17720864	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	303745	17720864	41408119	80	25232											
C19orf55	148137	broad.mit.edu	37	chr19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-													ccctgcagcaaagcctccatCtcctcctcctcctccctcag							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atc>at	p.IS213del	C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	213	Ser-rich.									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)			AAGCCTCCATCTCCTCCTCCTCC	0.631													13	1137	---	---	---	---						-	36255949	CTC	-	36255947	7	5	38	1	0	1	0	1	0	0	0	0	1949	903	32	0	665	0	C19orf55	19	36255947	In_Frame_Del	DEL	CTC	TCGA-US-A779-01A-11D-A32N-08	18535083	36255947	22873036	81	25233											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000595687.2_Missense_Mutation_p.I414V|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_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													6	774					0	0	1	0	0	C	40581109	T	C	40581109	3	2	38	1	0	0	0	0	1	0	0	0	18201	1406	49	3	816	3	ZNF780A	19	40581109	Missense_Mutation	SNP	T	TCGA-US-A779-01A-11D-A32N-08	4325162	40581109	18547874	82	25234											
CEACAM1	634	broad.mit.edu	37	chr19	43031337	43031337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctctcgaccgctgtttgCgggccctggggtagcttgtt	14	11	1	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:43031337C>T	ENST00000161559.6	-	2	414	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM1_ENST00000599389.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000308072.4_Missense_Mutation_p.A54T|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A94T|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000358394.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A94T	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	94	Ig-like V-type.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CCGCTGTTTGCGGGCCCTGGG	0.488													8	893					0	0	1	0	0	T	43031337	C	T	43031337	3	4	38	1	0	0	0	0	1	0	0	0	3209	768	27	1	1429	1	CEACAM1	19	43031337	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	2450228	43031337	16097646	83	25235											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000300862.3_Missense_Mutation_p.I386V|HIF3A_ENST00000420102.2_Missense_Mutation_p.I337V|HIF3A_ENST00000377670.4_Missense_Mutation_p.I388V|HIF3A_ENST00000472815.1_Missense_Mutation_p.I319V|HIF3A_ENST00000244303.6_Missense_Mutation_p.I319V|HIF3A_ENST00000600383.1_Missense_Mutation_p.I319V|AC007193.10_ENST00000596807.1_RNA			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													171	460					0	0	1	0	0	G	46825050	A	G	46825050	3	3	38	1	0	0	0	0	1	0	0	0	7146	333	12	3	1224	3	HIF3A	19	46825050	Missense_Mutation	SNP	A	TCGA-US-A779-01A-11D-A32N-08	3793713	46825050	12303933	84	25236											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000391742.2_Missense_Mutation_p.V38M|LAIR1_ENST00000348231.4_Missense_Mutation_p.V38M|LAIR1_ENST00000313038.6_Missense_Mutation_p.V31M|LAIR1_ENST00000434277.2_Missense_Mutation_p.V37M			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													10	538					0	0	1	0	0	T	54872775	C	T	54872775	3	4	38	1	0	0	0	0	1	0	0	0	8641	536	19	1	783	1	LAIR1	19	54872775	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	8047725	54872775	4256208	85	25237											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000585418.1_Missense_Mutation_p.R340C|BRSK1_ENST00000326848.7_Missense_Mutation_p.R35C|BRSK1_ENST00000590333.1_Missense_Mutation_p.R356C	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													55	156					0	0	1	0	0	T	55814225	C	T	55814225	3	4	38	1	0	0	0	0	1	0	0	0	1525	768	27	1	1056	1	BRSK1	19	55814225	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	941450	55814225	3314758	86	25238											
TRIM28	10155	broad.mit.edu	37	chr19	59061118	59061118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctagggaggagtggagctGctcactctgccatgtgctcc	13	13	2	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:59061118G>A	ENST00000253024.5	+	14	2286	c.1997G>A	c.(1996-1998)tGc>tAc	p.C666Y	TRIM28_ENST00000341753.6_Missense_Mutation_p.C584Y	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	666					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)		GAGTGGAGCTGCTCACTCTGC	0.597													6	729					0	0	1	0	0	A	59061118	G	A	59061118	3	1	38	1	0	0	0	0	1	0	0	0	16563	1319	46	2	2051	2	TRIM28	19	59061118	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	3246893	59061118	67865	87	25239											
ZNF343	79175	broad.mit.edu	37	chr20	2464182	2464182	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaggaggagtgatttccgActaaagcctcggccacactc	10	12	0	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:2464182A>G	ENST00000278772.4	-	6	1912	c.1425T>C	c.(1423-1425)agT>agC	p.S475S	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S475S(2)		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						GTGATTTCCGACTAAAGCCTC	0.527													4	233					0	0	1	0	0	G	2464182	A	G	2464182	2	3	38	1	0	0	0	0	0	0	0	1	17915	272	10	3		3	ZNF343	20	2464182	Silent	SNP	A	TCGA-US-A779-01A-11D-A32N-08		2464182	60561338	88	25240											
BFSP1	631	broad.mit.edu	37	chr20	17474884	17474884	+	Frame_Shift_Del	DEL	T	T	-													gccaaagccttgggagggccTttttctggcaggcttctgct							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:17474884delT	ENST00000377873.3	-	8	1872	c.1833delA	c.(1831-1833)aafs	p.K611fs	BFSP1_ENST00000536626.1_Frame_Shift_Del_p.K472fs|BFSP1_ENST00000377868.2_Frame_Shift_Del_p.K486fs|BFSP1_ENST00000544874.1_Frame_Shift_Del_p.K472fs	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	611	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						TGGGAGGGCCTTTTTCTGGCA	0.527													7	632	---	---	---	---						-	17474884	T	-	17474884	7	5	38	1	0	1	0	1	0	0	0	0	1414	1606	56	0	168	0	BFSP1	20	17474884	Frame_Shift_Del	DEL	T	TCGA-US-A779-01A-11D-A32N-08	15010702	17474884	45550636	89	25241											
PTPRT	11122	broad.mit.edu	37	chr20	40979318	40979318	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcagcatcactgtgatggtCgtgtctgtctcattcaatgg	10	9	5	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:40979318C>T	ENST00000373198.3	-	11	2050	c.1815G>A	c.(1813-1815)acG>acA	p.T605T	PTPRT_ENST00000373201.1_Silent_p.T605T|PTPRT_ENST00000373187.1_Silent_p.T605T|PTPRT_ENST00000373190.1_Silent_p.T605T|PTPRT_ENST00000373184.1_Silent_p.T605T|PTPRT_ENST00000356100.2_Silent_p.T605T|PTPRT_ENST00000373193.3_Silent_p.T605T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	605	Fibronectin type-III 4.		T -> M (in a colorectal cancer).		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	p.T605T(1)		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)				CTGTGATGGTCGTGTCTGTCT	0.532													5	436					0	0	1	0	0	T	40979318	C	T	40979318	2	4	38	1	0	0	0	0	0	0	0	1	12864	871	31	1		1	PTPRT	20	40979318	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	23504434	40979318	22046202	90	25242											
SEMG1	6406	broad.mit.edu	37	chr20	43836780	43836780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaagatcaacagcatggccGaaaggcaaataaaatatcat	7	8	3	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:43836780G>A	ENST00000372781.3	+	2	899	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	SEMG1_ENST00000244069.6_Missense_Mutation_p.R281Q	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CAGCATGGCCGAAAGGCAAAT	0.373													5	282					0	0	1	0	0	A	43836780	G	A	43836780	3	1	38	1	0	0	0	0	1	0	0	0	14098	1058	37	1	848	1	SEMG1	20	43836780	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	2857462	43836780	19188740	91	25243											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	382					0	0	1	0	0	T	56138146	C	T	56138146	3	4	38	1	0	0	0	0	1	0	0	0	11628	652	23	1	687	1	PCK1	20	56138146	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	12301366	56138146	6887374	92	25244											
CBR3	874	broad.mit.edu	37	chr21	37510175	37510175	+	Frame_Shift_Del	DEL	T	T	-													gagatgacactgaagacaaaTttttttgccactagaaacat							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr21:37510175delT	ENST00000290354.5	+	2	623	c.342delT	c.(340-342)aafs	p.N114fs	CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000413862.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	114						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding			kidney(1)|large_intestine(1)|lung(1)	3						TGAAGACAAATTTTTTTGCCA	0.408													7	498	---	---	---	---						-	37510175	T	-	37510175	7	5	38	1	0	1	0	1	0	0	0	0	2727	1490	52	0	348	0	CBR3	21	37510175	Frame_Shift_Del	DEL	T	TCGA-US-A779-01A-11D-A32N-08		37510175	10619720	93	25245											
ELFN2	114794	broad.mit.edu	37	chr22	37771213	37771213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcatgcctcgcagcatgCcctccgtcaggttgctgagc	12	15	2	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:37771213C>T	ENST00000402918.1	-	3	1147	c.362G>A	c.(361-363)gGc>gAc	p.G121D	ELFN2_ENST00000349653.3_Missense_Mutation_p.G121D|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	121						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)					TCGCAGCATGCCCTCCGTCAG	0.617													6	512					0	0	1	0	0	T	37771213	C	T	37771213	3	4	38	1	0	0	0	0	1	0	0	0	5086	739	26	2	2104	2	ELFN2	22	37771213	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08		37771213	13533353	94	25246											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	801					0	0	1	0	0	T	41742053	C	T	41742053	2	4	38	1	0	0	0	0	0	0	0	1	17632	883	31	1		1	ZC3H7B	22	41742053	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	3970840	41742053	9562513	95	25247											
ARFGAP3	26286	broad.mit.edu	37	chr22	43218401	43218401	+	Frame_Shift_Del	DEL	T	T	-													ttctgagctcccaaacttccTtttttggccccaagctagaa							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:43218401delT	ENST00000263245.5	-	9	906	c.687delA	c.(685-687)aafs	p.K229fs	ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.K157fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.K185fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	229					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CCAAACTTCCTTTTTTGGCCC	0.423													7	637	---	---	---	---						-	43218401	T	-	43218401	7	5	38	1	0	1	0	1	0	0	0	0	848	1606	56	0	895	0	ARFGAP3	22	43218401	Frame_Shift_Del	DEL	T	TCGA-US-A779-01A-11D-A32N-08	1476348	43218401	8086165	96	25248											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	242					0	0	1	0	0	C	50716129	G	C	50716129	3	2	38	1	0	0	0	0	1	0	0	0	12172	1232	43	5	449	5	PLXNB2	22	50716129	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	7497728	50716129	588437	97	25249											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													181	594					0	0	1	0	0	A	18183254	G	A	18183254	3	1	38	1	0	0	0	0	1	0	0	0	1396	1116	39	1	128	1	BEND2	23	18183254	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08		18183254	137087306	98	25250											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)aacfs	p.N824fs	KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.N745fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.N779fs|KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.N831fs	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"								25	109	---	---	---	---						C	44929371	-	C	44929370	7	5	38	1	0	1	1	0	0	0	0	0	8180	1783	62	0	2536	0	KDM6A	23	44929370	Frame_Shift_Ins	INS	-	TCGA-US-A779-01A-11D-A32N-08	26746116	44929370	110341190	99	25251											
FAM155B	27112	broad.mit.edu	37	chrX	68725672	68725672	+	Frame_Shift_Del	DEL	A	A	-													cggccgagttcccctccgccAaaaaaaacttgctcaaaggc							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:68725672delA	ENST00000252338.4	+	1	589	c.547delA	c.(547-549)aafs	p.K184fs		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	184						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						CCCCTCCGCCAAAAAAAACTT	0.592													7	376	---	---	---	---						-	68725672	A	-	68725672	7	5	38	1	0	1	0	1	0	0	0	0	5496	131	5	0	549	0	FAM155B	23	68725672	Frame_Shift_Del	DEL	A	TCGA-US-A779-01A-11D-A32N-08	23796302	68725672	86544888	100	25252											
RHOXF1	158800	broad.mit.edu	37	chrX	119249579	119249579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgccctcggggatcatgCcgccatcgcggttcatgccg	13	17	2	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:119249579C>T	ENST00000217999.2	-	1	268	c.194G>A	c.(193-195)gGc>gAc	p.G65D	RP4-755D9.1_ENST00000553843.1_RNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	65					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G65D(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						GGGGATCATGCCGCCATCGCG	0.687													5	423					0	0	1	0	0	T	119249579	C	T	119249579	3	4	38	1	0	0	0	0	1	0	0	0	13397	739	26	2	372	2	RHOXF1	23	119249579	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	50523907	119249579	36020981	101	25253											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													24	153					0	0	1	0	0	A	1961076	G	A	1961076	3	1	39	1	0	0	0	0	1	0	0	0	6204	1145	40	1	964	1	GABRD	1	1961076	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		1961076	247289545	1	25254											
SLC2A1	6513	broad.mit.edu	37	chr1	43395374	43395374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgaccttcttctcccGcatcatctgccgactctctt	7	15	5	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:43395374G>A	ENST00000426263.3	-	6	935	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	253					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)	TTCTTCTCCCGCATCATCTGC	0.627													5	634					0	0	1	0	0	A	43395374	G	A	43395374	3	1	39	1	0	0	0	0	1	0	0	0	14593	1086	38	1	741	1	SLC2A1	1	43395374	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	41434298	43395374	205855247	2	25255											
BRDT	676	broad.mit.edu	37	chr1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-													atgtttcccgactgagtgagAgcagcagcagcagcagcagc							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:92447228_92447230delAGC	ENST00000370389.2	+	12	2623_2625	c.1699_1701delAGC	c.(1699-1701)del	p.S575del	BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648					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)		ACTGAGTGAGagcagcagcagca	0.419													8	294	---	---	---	---						-	92447230	AGC	-	92447228	7	5	39	1	0	1	0	1	0	0	0	0	1510	304	11	0	1960	0	BRDT	1	92447228	In_Frame_Del	DEL	AGC	TCGA-US-A77E-01A-11D-A32N-08	49051854	92447228	156803393	3	25256											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	14	12	0	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		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)			gctgctgttgctgctgctgct	0.642													5	288					0	0	1	0	0	T	153907309	C	T	153907309	2	4	39	1	0	0	0	0	0	0	0	1	4462	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	61460081	153907309	95343312	4	25257											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	141					2.17888e-05	2.2656e-05	1	1	0	T	156639754	G	T	156639754	3	4	39	1	0	0	0	0	1	0	0	0	10384	1174	41	2	643	2	NES	1	156639754	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	2732445	156639754	92610867	5	25258											
SNRPE	6635	broad.mit.edu	37	chr1	203832833	203832833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctatgagcaagtgaatatgCggatagaaggctgtatcatt	11	5	2	3			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:203832833C>T	ENST00000414487.2	+	3	169	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	SNRPE_ENST00000483099.1_3'UTR|SNRPE_ENST00000367208.1_Missense_Mutation_p.R2W	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	42					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	p.R42W(1)		breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGTGAATATGCGGATAGAAGG	0.433													5	540					0	0	1	0	0	T	203832833	C	T	203832833	3	4	39	1	0	0	0	0	1	0	0	0	14921	759	27	1	134	1	SNRPE	1	203832833	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	47193079	203832833	45417788	6	25259											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:224868727C>T	ENST00000272133.3	+	2	1031	c.150_splice	c.e2+1	p.A50_splice		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													44	237					0	0	1	0	0	T	224868727	C	T	224868727	5	4	39	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	21035894	224868727	24381894	7	25260											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000395826.2_Silent_p.D192D|POMC_ENST00000380794.1_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													15	56					0	0	1	0	0	A	25384178	G	A	25384178	2	1	39	1	0	0	0	0	0	0	0	1	12290	1136	40	1		1	POMC	2	25384178	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		25384178	217815195	8	25261											
OTX1	5013	broad.mit.edu	37	chr2	63283259	63283261	+	In_Frame_Del	DEL	CCA	CCA	-													ccgttgagccagtcctcaggCcaccaccaccaccatcacca							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:63283259_63283261delCCA	ENST00000366671.3	+	5	1149_1151	c.873_875delCCA	c.(871-876)ggc>gg	p.GH291del	OTX1_ENST00000282549.2_In_Frame_Del_p.GH291del	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	291	His-rich.					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)					AGTCCTCAGGccaccaccaccac	0.64													7	355	---	---	---	---						-	63283261	CCA	-	63283259	7	5	39	1	0	1	0	1	0	0	0	0	11367	726	26	0	883	0	OTX1	2	63283259	In_Frame_Del	DEL	CCA	TCGA-US-A77E-01A-11D-A32N-08	37899081	63283259	179916114	9	25262											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361686.4_Missense_Mutation_p.R342C|ST6GAL2_ENST00000409087.3_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													48	250					0	0	1	0	0	A	107450522	G	A	107450522	3	1	39	1	0	0	0	0	1	0	0	0	15278	1145	40	1	668	1	ST6GAL2	2	107450522	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	44167263	107450522	135748851	10	25263											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000417433.2_Missense_Mutation_p.P516S|POLR1B_ENST00000541869.1_Missense_Mutation_p.P610S|POLR1B_ENST00000537335.1_Missense_Mutation_p.P361S	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													71	359					0	0	1	0	0	T	113322044	C	T	113322044	3	4	39	1	0	0	0	0	1	0	0	0	12258	855	30	2	1752	2	POLR1B	2	113322044	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	5871522	113322044	129877329	11	25264											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539609.3_Missense_Mutation_p.R145C|ZEB2_ENST00000409487.3_Missense_Mutation_p.R169C|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													22	123					0	0	1	0	0	A	145162490	G	A	145162490	3	1	39	1	0	0	0	0	1	0	0	0	17682	1087	38	1	3163	1	ZEB2	2	145162490	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	31840446	145162490	98036883	12	25265											
MARCH7	64844	broad.mit.edu	37	chr2	160605268	160605268	+	Frame_Shift_Del	DEL	T	T	-													ttattccggtttgcagtcccTccagcacttgggagtaattt					rs1365803	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:160605268delT	ENST00000259050.3	+	5	1589	c.1467delT	c.(1465-1467)ccfs	p.P490fs	MARCH7_ENST00000409591.1_Frame_Shift_Del_p.P452fs|MARCH7_ENST00000409175.1_Frame_Shift_Del_p.P490fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.P434fs	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	490							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TTGCAGTCCCTCCAGCACTTG	0.428													7	1125	---	---	---	---						-	160605268	T	-	160605268	7	5	39	1	0	1	0	1	0	0	0	0	9356	1538	54	0	1481	0	MARCH7	2	160605268	Frame_Shift_Del	DEL	T	TCGA-US-A77E-01A-11D-A32N-08	15442778	160605268	82594105	13	25266											
RBM45	129831	broad.mit.edu	37	chr2	178977303	178977304	+	Frame_Shift_Ins	INS	-	-	G													ctggcagctctgcgagcggcINSgggggcttccgcccgggcgt					rs146365140	by1000genomes	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:178977303_178977304insG	ENST00000286070.5	+	1	122_123	c.30_31insG	c.(28-33)ggggggfs	p.GG10fs		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	10					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)			CTGCGAGCGGCGGGGGCTTCCG	0.644											OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	264	---	---	---	---						G	178977304	-	G	178977303	7	5	39	1	0	1	1	0	0	0	0	0	13191	755	27	0	32	0	RBM45	2	178977303	Frame_Shift_Ins	INS	-	TCGA-US-A77E-01A-11D-A32N-08	18372035	178977303	64222070	14	25267											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000460472.2_Missense_Mutation_p.S9345L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S9537L|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S9470L|TTN_ENST00000342992.6_Missense_Mutation_p.S15842L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S16769L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	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													67	284					0	0	1	0	0	A	179466769	G	A	179466769	3	1	39	1	0	0	0	0	1	0	0	0	16797	1294	45	2	52780	2	TTN	2	179466769	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	489466	179466769	63732604	15	25268											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													32	227					0	0	1	0	0	C	189929337	T	C	189929337	2	2	39	1	0	0	0	0	0	0	0	1	3720	1606	56	3		3	COL5A2	2	189929337	Silent	SNP	T	TCGA-US-A77E-01A-11D-A32N-08	10462568	189929337	53270036	16	25269											
ZNF142	7701	broad.mit.edu	37	chr2	219508084	219508084	+	Frame_Shift_Del	DEL	C	C	-													gttttcctcccccgccacgtCcccccctgcagccttcagcc							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:219508084delC	ENST00000411696.2	-	7	3934	c.3155delG	c.(3154-3156)gafs	p.G1052fs	ZNF142_ENST00000449707.1_Frame_Shift_Del_p.G1052fs			P52746	ZN142_HUMAN	zinc finger protein 142	1052					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G1052fs*20(1)|p.G889fs*20(1)		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)		CCCGCCACGTCCCCCCCTGCA	0.607													7	267	---	---	---	---						-	219508084	C	-	219508084	7	5	39	1	0	1	0	1	0	0	0	0	17789	855	30	0	1920	0	ZNF142	2	219508084	Frame_Shift_Del	DEL	C	TCGA-US-A77E-01A-11D-A32N-08	29578747	219508084	23691289	17	25270											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													54	268					0	0	1	0	0	A	225651759	G	A	225651759	3	1	39	1	0	0	0	0	1	0	0	0	4712	1058	37	1	953	1	DOCK10	2	225651759	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	6143675	225651759	17547614	18	25271											
IRS1	3667	broad.mit.edu	37	chr2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-													ctctggagggtgcagcaaggGctgctgctgctgctgctgct							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:227660808_227660810delGCT	ENST00000305123.4	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)ccc>c	p.QP882del		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				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)		TGCAGCAAGGgctgctgctgctg	0.626													9	282	---	---	---	---						-	227660810	GCT	-	227660808	7	5	39	1	0	1	0	1	0	0	0	0	7884	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-US-A77E-01A-11D-A32N-08	2009049	227660808	15538565	19	25272											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000402775.2_Silent_p.S222S|C2orf54_ENST00000388934.4_Silent_p.S390S			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													9	28					0	0	1	0	0	A	241827790	G	A	241827790	2	1	39	1	0	0	0	0	0	0	0	1	2189	1103	39	1		1	C2orf54	2	241827790	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	14166982	241827790	1371583	20	25273											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000535798.1_Missense_Mutation_p.G1029E|FBLN2_ENST00000492059.1_Missense_Mutation_p.G1050E|FBLN2_ENST00000295760.7_Missense_Mutation_p.G1003E	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													25	37					0	0	1	0	0	A	13672892	G	A	13672892	3	1	39	1	0	0	0	0	1	0	0	0	5732	1232	43	2	1897	2	FBLN2	3	13672892	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		13672892	184349538	21	25274											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	147					0	0	1	0	0	A	46729748	G	A	46729748	3	1	39	1	0	0	0	0	1	0	0	0	547	1086	38	1	2815	1	ALS2CL	3	46729748	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	33056856	46729748	151292682	22	25275											
CELSR3	1951	broad.mit.edu	37	chr3	48677726	48677726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattcctgggaccctggccGgctcaggggacgtagaacag	15	12	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:48677726G>A	ENST00000544264.1	-	35	9587	c.9307C>T	c.(9307-9309)Cgg>Tgg	p.R3103W	CELSR3_ENST00000164024.4_Missense_Mutation_p.R3098W			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3098					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)		GACCCTGGCCGGCTCAGGGGA	0.657													5	429					0	0	1	0	0	A	48677726	G	A	48677726	3	1	39	1	0	0	0	0	1	0	0	0	3245	1115	39	1	654	1	CELSR3	3	48677726	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	1947978	48677726	149344704	23	25276											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:52392752C>T	ENST00000420323.2	+	25	4526	c.4266_splice	c.e25+1	p.T1422_splice		NM_015512.4	NP_056327.4	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													18	142					0	0	1	0	0	T	52392752	C	T	52392752	5	4	39	1	0	0	0	0	0	0	1	0	4625	550	19	1	4359	1	DNAH1	3	52392752	Splice_Site	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	3715026	52392752	145629678	24	25277											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	124					0	0	1	0	0	A	93611912	G	A	93611912	2	1	39	1	0	0	0	0	0	0	0	1	12610	1140	40	1		1	PROS1	3	93611912	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	41219160	93611912	104410518	25	25278											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	230					0	0	1	0	0	T	97852400	C	T	97852400	3	4	39	1	0	0	0	0	1	0	0	0	11206	855	30	2	861	2	OR5H1	3	97852400	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	4240488	97852400	100170030	26	25279											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													80	296					0	0	1	0	0	A	110852707	G	A	110852707	3	1	39	1	0	0	0	0	1	0	0	0	12893	1116	39	1	1317	1	PVRL3	3	110852707	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	13000307	110852707	87169723	27	25280											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000508532.1_Missense_Mutation_p.P863R|ATP2C1_ENST00000507488.2_Missense_Mutation_p.P847R|ATP2C1_ENST00000505330.1_Missense_Mutation_p.P847R|ATP2C1_ENST00000504948.1_Missense_Mutation_p.P847R|ATP2C1_ENST00000504381.1_Missense_Mutation_p.P808R|ATP2C1_ENST00000533801.2_Missense_Mutation_p.P858R|ATP2C1_ENST00000428331.2_Missense_Mutation_p.P863R|ATP2C1_ENST00000513801.1_Missense_Mutation_p.P847R|ATP2C1_ENST00000393221.4_Missense_Mutation_p.P897R|ATP2C1_ENST00000422190.2_Missense_Mutation_p.P863R|ATP2C1_ENST00000359644.3_Missense_Mutation_p.P863R|ATP2C1_ENST00000328560.8_Missense_Mutation_p.P863R			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				31	151					0	0	1	0	0	G	130718462	C	G	130718462	3	3	39	1	0	0	0	0	1	0	0	0	1142	652	23	5	2690	5	ATP2C1	3	130718462	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	19865755	130718462	67303968	28	25281											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													39	149					3.43241e-23	3.6231e-23	1	1	0	A	132175223	C	A	132175223	2	1	39	1	0	0	0	0	0	0	0	1	4659	813	29	2		2	DNAJC13	3	132175223	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	1456761	132175223	65847207	29	25282											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	169					0	0	1	0	0	T	148599357	C	T	148599357	4	4	39	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	30	25283											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr4:22749669T>G	ENST00000511446.1	+	0	1040				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													9	43					0	0	1	0	0	G	22749669	T	G	22749669	1	3	39	0	1	0	0	0	0	0	0	0	6308	1435	50	3		3	GBA3	4	22749669	RNA	SNP	T	TCGA-US-A77E-01A-11D-A32N-08		22749669	168404607	31	25284											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)del	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													13	228	---	---	---	---						-	94750656	AAG	-	94750654	7	5	39	1	0	1	0	1	0	0	0	0	1111	131	5	0	579	0	ATOH1	4	94750654	In_Frame_Del	DEL	AAG	TCGA-US-A77E-01A-11D-A32N-08	72000985	94750654	96403622	32	25285											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													28	125					0	0	1	0	0	A	141622724	G	A	141622724	3	1	39	1	0	0	0	0	1	0	0	0	15687	1115	39	1	3705	1	TBC1D9	4	141622724	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	46872070	141622724	49531552	33	25286											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	81					0	0	1	0	0	A	40981607	G	A	40981607	3	1	39	1	0	0	0	0	1	0	0	0	2391	1087	38	1	2534	1	C7	5	40981607	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		40981607	139933653	34	25287											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000343200.5_Missense_Mutation_p.S2384L|VCAN_ENST00000502527.2_Missense_Mutation_p.S630L|VCAN_ENST00000512590.2_Missense_Mutation_p.S1569L|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Missense_Mutation_p.S1617L	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													41	149					0	0	1	0	0	T	82876174	C	T	82876174	3	4	39	1	0	0	0	0	1	0	0	0	17198	838	29	2	10166	2	VCAN	5	82876174	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	41894567	82876174	98039086	35	25288											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R46H|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R46H|PCDHA1_ENST00000394633.3_Intron	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													7	378					0	0	1	0	0	A	140201497	G	A	140201497	3	1	39	1	0	0	0	0	1	0	0	0	11574	1087	38	1	139	1	PCDHA5	5	140201497	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	57325323	140201497	40713763	36	25289											
PCDHA5	0	broad.mit.edu	37	chr5	140203117	140203117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgccgaggtcagtgggtgCgggccacgtggtggcgaagg	22	8	1	0	rs138704270		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:140203117C>T	ENST00000529859.1	+	1	1757	c.1757C>T	c.(1756-1758)gCg>gTg	p.A586V	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A586V|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A586V|PCDHA1_ENST00000394633.3_Intron	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)			TCAGTGGGTGCGGGCCACGTG	0.682													5	340					0	0	1	0	0	T	140203117	C	T	140203117	3	4	39	1	0	0	0	0	1	0	0	0	11574	768	27	1	1759	1	PCDHA5	5	140203117	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	1620	140203117	40712143	37	25290											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				6	33					0	0	1	0	0	A	169533243	G	A	169533243	2	1	39	1	0	0	0	0	0	0	0	1	6043	1074	38	1		1	FOXI1	5	169533243	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	29330126	169533243	11382017	38	25291											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													89	393					0	0	1	0	0	T	172744926	C	T	172744926	3	4	39	1	0	0	0	0	1	0	0	0	15332	739	26	2	79	2	STC2	5	172744926	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	3211683	172744926	8170334	39	25292											
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-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:175815524C>T	ENST00000389158.5	-	1	452	c.17G>A	c.(16-18)gGc>gAc	p.G6D	NOP16_ENST00000509257.1_Missense_Mutation_p.G6D|NOP16_ENST00000510123.1_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													5	417					0	0	1	0	0	T	175815524	C	T	175815524	3	4	39	1	0	0	0	0	1	0	0	0	10584	739	26	2	538	2	NOP16	5	175815524	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	3070598	175815524	5099736	40	25293											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114205	27114205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttggcaagtttacttagCgctggtgtacttggtgacgg	13	7	0	1	rs139171375		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:27114205C>T	ENST00000396891.4	-	1	414	c.373G>A	c.(373-375)Gct>Act	p.A125T	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.A125T	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	125					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						GTTTACTTAGCGCTGGTGTAC	0.547													5	397					0	0	1	0	0	T	27114205	C	T	27114205	3	4	39	1	0	0	0	0	1	0	0	0	7191	768	27	1	11	1	HIST1H2BK	6	27114205	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08		27114205	144000862	41	25294											
GABBR1	0	broad.mit.edu	37	chr6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-													tcataagcaaggaagattccCagcagcagcagcagcccctt							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)del	p.L783del	GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					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.L783M(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)	GGAAGATTCCCAGCAGCAGCAGC	0.512													7	272	---	---	---	---						-	29573438	CAG	-	29573436	7	5	39	1	0	1	0	1	0	0	0	0	6190	581	21	0	552	0	GABBR1	6	29573436	In_Frame_Del	DEL	CAG	TCGA-US-A77E-01A-11D-A32N-08	2459231	29573436	141541631	42	25295											
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-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	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													5	431					0	0	1	0	0	A	47253929	G	A	47253929	3	1	39	1	0	0	0	0	1	0	0	0	16355	1086	38	1	1488	1	TNFRSF21	6	47253929	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	17680493	47253929	123861138	43	25296											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000361203.3_Nonsense_Mutation_p.W1305*|DST_ENST00000312431.6_Nonsense_Mutation_p.W1305*|DST_ENST00000518935.1_Nonsense_Mutation_p.W979*|DST_ENST00000370765.6_Nonsense_Mutation_p.W979*|DST_ENST00000370769.4_Nonsense_Mutation_p.W1305*|DST_ENST00000370788.2_Nonsense_Mutation_p.W1305*|DST_ENST00000446842.2_Nonsense_Mutation_p.W979*|DST_ENST00000421834.2_Nonsense_Mutation_p.W1305*|DST_ENST00000244364.6_Nonsense_Mutation_p.W979*			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													12	191					0	0	1	0	0	T	56492887	C	T	56492887	4	4	39	1	0	0	0	0	0	1	0	0	4809	856	30	2	17482	2	DST	6	56492887	Nonsense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	9238958	56492887	114622180	44	25297											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000416123.2_Missense_Mutation_p.S117L|COL12A1_ENST00000483888.2_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													38	239					0	0	1	0	0	A	75901461	G	A	75901461	3	1	39	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	45	25298											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:122773086T>C	ENST00000368454.1	-	8	1035	c.706A>G	c.(706-708)Aac>Gac	p.N236D	SERINC1_ENST00000339697.3_Missense_Mutation_p.N236D			Q9NRX5	SERC1_HUMAN	serine incorporator 1	236					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													44	156					0	0	1	0	0	C	122773086	T	C	122773086	3	2	39	1	0	0	0	0	1	0	0	0	14133	1812	63	3	675	3	SERINC1	6	122773086	Missense_Mutation	SNP	T	TCGA-US-A77E-01A-11D-A32N-08	46871625	122773086	48341981	46	25299											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													14	74					0	0	1	0	0	G	123539785	A	G	123539785	2	3	39	1	0	0	0	0	0	0	0	1	16529	262	10	3		3	TRDN	6	123539785	Silent	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	766699	123539785	47575282	47	25300											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								68	372					0	0	1	0	0	A	2984085	G	A	2984085	3	1	39	1	0	0	0	0	1	0	0	0	2663	1145	40	1	3103	1	CARD11	7	2984085	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		2984085	156154578	48	25301											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000352860.1_Missense_Mutation_p.A758V|OSBPL3_ENST00000409069.1_Missense_Mutation_p.A722V|OSBPL3_ENST00000396431.1_Missense_Mutation_p.A758V|OSBPL3_ENST00000353930.1_Missense_Mutation_p.A753V|OSBPL3_ENST00000396429.1_Missense_Mutation_p.A753V|OSBPL3_ENST00000431825.2_Missense_Mutation_p.A722V|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													5	340					0	0	1	0	0	A	24846473	G	A	24846473	3	1	39	1	0	0	0	0	1	0	0	0	11326	1087	38	1	309	1	OSBPL3	7	24846473	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	21862388	24846473	134292190	49	25302											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542604.1_Missense_Mutation_p.H699N|TECPR1_ENST00000379795.3_Missense_Mutation_p.H770N			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													5	24					0.00116845	0.00119124	1	1	0	T	97858456	G	T	97858456	3	4	39	1	0	0	0	0	1	0	0	0	15802	1348	47	2	1236	2	TECPR1	7	97858456	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	73011983	97858456	61280207	50	25303											
MUC17	140453	broad.mit.edu	37	chr7	100676607	100676607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataacaagtatgtctgtcaGcaccacactggtggccagtt	9	10	2	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:100676607G>A	ENST00000306151.4	+	3	1974	c.1910G>A	c.(1909-1911)aGc>aAc	p.S637N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	637	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)					ATGTCTGTCAGCACCACACTG	0.468													7	1498					0	0	1	0	0	A	100676607	G	A	100676607	3	1	39	1	0	0	0	0	1	0	0	0	10022	971	34	2	1920	2	MUC17	7	100676607	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	2818151	100676607	58462056	51	25304											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000242365.4_Missense_Mutation_p.R1356G|KIAA1549_ENST00000422774.1_Missense_Mutation_p.R1406G	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								53	297					0	0	1	0	0	C	138566147	G	C	138566147	3	2	39	1	0	0	0	0	1	0	0	0	8286	1058	37	5	1676	5	KIAA1549	7	138566147	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	37889540	138566147	20572516	52	25305											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)aag>a	p.TAPTPQ488del		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				24	196	---	---	---	---						-	140477845	GAGGTGTAGGTGCTG	-	140477831	7	5	39	1	0	1	0	1	0	0	0	0	1498	1299	45	0	851	0	BRAF	7	140477831	In_Frame_Del	DEL	GAGGTGTAGGTGCTG	TCGA-US-A77E-01A-11D-A32N-08	1911684	140477831	18660832	53	25306											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													51	238					0	0	1	0	0	T	148951330	C	T	148951330	3	4	39	1	0	0	0	0	1	0	0	0	17826	826	29	2	1330	2	ZNF212	7	148951330	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	8473499	148951330	10187333	54	25307											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000427557.1_Silent_p.G547G|DPP6_ENST00000332007.3_Silent_p.G592G|DPP6_ENST00000377770.3_Silent_p.G654G	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													10	106					0	0	1	0	0	T	154667694	C	T	154667694	2	4	39	1	0	0	0	0	0	0	0	1	4756	755	27	1		1	DPP6	7	154667694	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	5716364	154667694	4470969	55	25308											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr8:39775725A>T	ENST00000518237.1	+	3	941	c.303_splice	c.e3+1	p.K101_splice	IDO1_ENST00000522495.1_Splice_Site_p.K101_splice|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													62	196					0	0	1	0	0	T	39775725	A	T	39775725	5	4	39	1	0	0	0	0	0	0	1	0	7545	86	3	5	312	5	IDO1	8	39775725	Splice_Site	SNP	A	TCGA-US-A77E-01A-11D-A32N-08		39775725	106588297	56	25309											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	7					1.06961e-07	1.11775e-07	1	1	0	T	55372148	G	T	55372148	3	4	39	1	0	0	0	0	1	0	0	0	15001	1232	43	2	844	2	SOX17	8	55372148	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	15596423	55372148	90991874	57	25310											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	156					0	0	1	0	0	T	145541605	C	T	145541605	3	4	39	1	0	0	0	0	1	0	0	0	4485	768	27	1	675	1	DGAT1	8	145541605	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	90169457	145541605	822417	58	25311											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000380117.1_Missense_Mutation_p.N314K|ELAVL2_ENST00000223951.6_Missense_Mutation_p.N301K|ELAVL2_ENST00000544538.1_Missense_Mutation_p.N314K|ELAVL2_ENST00000380110.4_Missense_Mutation_p.N344K	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													16	372					0	0	1	0	0	C	23692693	A	C	23692693	3	2	39	1	0	0	0	0	1	0	0	0	5078	446	16	3	141	3	ELAVL2	9	23692693	Missense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08		23692693	117520738	59	25312											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000376347.1_Missense_Mutation_p.I7R|KIF27_ENST00000413982.1_Missense_Mutation_p.I616R|KIF27_ENST00000334204.2_Missense_Mutation_p.I616R	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													29	533					0	0	1	0	0	C	86504131	A	C	86504131	3	2	39	1	0	0	0	0	1	0	0	0	8338	449	16	3	2406	3	KIF27	9	86504131	Missense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	62811438	86504131	54709300	60	25313											
NFIL3	4783	broad.mit.edu	37	chr9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-													agcttcattatttttccgccTtttttcccaatacatagcat							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)ggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81					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						TTTTTCCGCCTTTTTTCCCAA	0.423													7	838	---	---	---	---						-	94172779	T	-	94172779	7	5	39	1	0	1	0	1	0	0	0	0	10420	1608	56	0	1154	0	NFIL3	9	94172779	Frame_Shift_Del	DEL	T	TCGA-US-A77E-01A-11D-A32N-08	7668648	94172779	47040652	61	25314											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													100	530					2.03867e-50	2.18503e-50	1	1	0	T	110249341	G	T	110249341	3	4	39	1	0	0	0	0	1	0	0	0	8391	1174	41	2	215	2	KLF4	9	110249341	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	16076562	110249341	30964090	62	25315											
TNC	3371	broad.mit.edu	37	chr9	117844148	117844148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggagctagaccagtttgCcggtaagaggtctctggcct	13	11	1	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:117844148C>T	ENST00000350763.4	-	6	2718	c.2307G>A	c.(2305-2307)cgG>cgA	p.R769R	TNC_ENST00000423613.2_Silent_p.R769R|TNC_ENST00000542877.1_Silent_p.R769R|TNC_ENST00000345230.3_Silent_p.R769R|TNC_ENST00000341037.4_Silent_p.R769R|TNC_ENST00000537320.1_Silent_p.R769R|TNC_ENST00000535648.1_Silent_p.R769R|TNC_ENST00000340094.3_Silent_p.R769R|TNC_ENST00000346706.3_Silent_p.R769R	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	769	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						GACCAGTTTGCCGGTAAGAGG	0.522													5	328					0	0	1	0	0	T	117844148	C	T	117844148	2	4	39	1	0	0	0	0	0	0	0	1	16330	726	26	2		2	TNC	9	117844148	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	7594807	117844148	23369283	63	25316											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000377159.4_Silent_p.Y215Y|NEBL_ENST00000417816.2_Silent_p.Y249Y	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													4	187					0	0	1	0	0	A	21074742	G	A	21074742	2	1	39	1	0	0	0	0	0	0	0	1	10350	1140	40	1		1	NEBL	10	21074742	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		21074742	114460005	64	25317											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													29	140					0	0	1	0	0	T	26457784	C	T	26457784	2	4	39	1	0	0	0	0	0	0	0	1	10124	767	27	1		1	MYO3A	10	26457784	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	5383042	26457784	109076963	65	25318											
UNC5B	219699	broad.mit.edu	37	chr10	73044612	73044612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcgccgagcctacgtccGcatcgcctgtacgccaccct	10	18	0	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:73044612G>A	ENST00000335350.6	+	3	856	c.440G>A	c.(439-441)cGc>cAc	p.R147H	UNC5B_ENST00000373192.4_Missense_Mutation_p.R147H	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	147	Ig-like C2-type.				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						GCCTACGTCCGCATCGCCTGT	0.652													5	298					0	0	1	0	0	A	73044612	G	A	73044612	3	1	39	1	0	0	0	0	1	0	0	0	17052	1087	38	1	450	1	UNC5B	10	73044612	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	46586828	73044612	62490135	66	25319											
SPON1	10418	broad.mit.edu	37	chr11	14284600	14284600	+	RNA	DEL	A	A	-													gctaagtcttggacctgtttAaaaaaaaaaaaaaaaaaaaa					rs79477301		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:14284600delA	ENST00000310358.7	+	0	2795				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)		GGACCTGTTTaaaaaaaaaaa	0.463													10	43	---	---	---	---						-	14284600	A	-	14284600	6	5	39	0	1	1	0	1	0	0	0	0	15138	377	13	0		0	SPON1	11	14284600	RNA	DEL	A	TCGA-US-A77E-01A-11D-A32N-08		14284600	120721916	67	25320											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	113					0	0	1	0	0	A	27016362	G	A	27016362	3	1	39	1	0	0	0	0	1	0	0	0	5918	1145	40	1	291	1	FIBIN	11	27016362	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	12731762	27016362	107990154	68	25321											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000312055.5_Missense_Mutation_p.R1481C|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1481C|CKAP5_ENST00000415402.1_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													5	284					0	0	1	0	0	A	46780946	G	A	46780946	3	1	39	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	19764584	46780946	88225570	69	25322											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													23	495					5.35356e-11	5.62258e-11	1	1	0	A	48510885	C	A	48510885	3	1	39	1	0	0	0	0	1	0	0	0	11090	855	30	2	543	2	OR4A47	11	48510885	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	1729939	48510885	86495631	70	25323											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													38	682					0	0	1	0	0	C	55418776	A	C	55418776	3	2	39	1	0	0	0	0	1	0	0	0	11131	217	8	3	399	3	OR4S2	11	55418776	Missense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	6907891	55418776	79587740	71	25324											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													189	542					0	0	1	0	0	A	63680166	G	A	63680166	4	1	39	1	0	0	0	0	0	1	0	0	13235	1328	46	2	574	2	RCOR2	11	63680166	Nonsense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	8261390	63680166	71326350	72	25325											
PLCB3	5331	broad.mit.edu	37	chr11	64034909	64034909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcctgctgggcgagatgCcggaggggctgggggacggg	24	8	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:64034909C>T	ENST00000540288.1	+	31	3689	c.3586C>T	c.(3586-3588)Ccg>Tcg	p.P1196S	PLCB3_ENST00000325234.5_Missense_Mutation_p.P1129S|PLCB3_ENST00000279230.6_Missense_Mutation_p.P1196S	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1196					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						GGGCGAGATGCCGGAGGGGCT	0.721													3	17					0	0	1	0	0	T	64034909	C	T	64034909	3	4	39	1	0	0	0	0	1	0	0	0	12077	739	26	2	3708	2	PLCB3	11	64034909	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	354743	64034909	70971607	73	25326											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000406310.1_Missense_Mutation_p.R319Q|ESRRA_ENST00000000442.6_Missense_Mutation_p.R320Q			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													43	137					0	0	1	0	0	A	64082689	G	A	64082689	3	1	39	1	0	0	0	0	1	0	0	0	5288	1116	39	1	977	1	ESRRA	11	64082689	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	47780	64082689	70923827	74	25327											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													71	291					0	0	1	0	0	A	116691783	G	A	116691783	3	1	39	1	0	0	0	0	1	0	0	0	780	1232	43	2	203	2	APOA4	11	116691783	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	52609094	116691783	18314733	75	25328											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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|TMEM25_ENST00000442938.2_Intron|IFT46_ENST00000530872.1_Missense_Mutation_p.I291T|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													54	300					0	0	1	0	0	G	118416522	A	G	118416522	3	3	39	1	0	0	0	0	1	0	0	0	7604	101	4	3	207	3	IFT46	11	118416522	Missense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	1724739	118416522	16589994	76	25329											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													34	122					0	0	1	0	0	A	130284700	G	A	130284700	3	1	39	1	0	0	0	0	1	0	0	0	271	1087	38	1	1397	1	ADAMTS8	11	130284700	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	11868178	130284700	4721816	77	25330											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000354310.4_Silent_p.P109P|KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000537672.2_Silent_p.P109P	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													6	243					0	0	1	0	0	T	52994910	C	T	52994910	2	4	39	1	0	0	0	0	0	0	0	1	8528	755	27	1		1	KRT72	12	52994910	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08		52994910	80856985	78	25331											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													21	79					0	0	1	0	0	A	109719343	G	A	109719343	3	1	39	1	0	0	0	0	1	0	0	0	6056	1116	39	1	398	1	FOXN4	12	109719343	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	56724433	109719343	24132552	79	25332											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000415485.3_Splice_Site|RPH3A_ENST00000447659.2_Splice_Site|RPH3A_ENST00000551052.1_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													6	226					0	0	1	0	0	A	113266105	G	A	113266105	5	1	39	1	0	0	0	0	0	0	1	0	13603	1014	35	2		2	RPH3A	12	113266105	Splice_Site	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	3546762	113266105	20585790	80	25333											
FREM2	341640	broad.mit.edu	37	chr13	39451349	39451349	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctgatggatccatgggattCgggcaagagagtgatgttgc	15	6	1	3			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr13:39451349C>A	ENST00000280481.7	+	21	8856	c.8640C>A	c.(8638-8640)ttC>ttA	p.F2880L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2880					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)		CCATGGGATTCGGGCAAGAGA	0.438													5	855					0.217242	0.217242	1	1	0	A	39451349	C	A	39451349	3	1	39	1	0	0	0	0	1	0	0	0	6080	883	31	4	8722	4	FREM2	13	39451349	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08		39451349	75718529	81	25334											
LTB4R	1241	broad.mit.edu	37	chr14	24785074	24785074	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtattgctcactgctcccTttttccttcacttcctggcc	5	17	2	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr14:24785074T>C	ENST00000396789.4	+	2	1942	c.217T>C	c.(217-219)Ttt>Ctt	p.F73L	LTB4R_ENST00000396782.2_Missense_Mutation_p.F73L|LTB4R_ENST00000345363.3_Missense_Mutation_p.F73L	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	73					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)		CACTGCTCCCTTTTTCCTTCA	0.582													5	553					0	0	1	0	0	C	24785074	T	C	24785074	3	2	39	1	0	0	0	0	1	0	0	0	9116	1609	56	3	219	3	LTB4R	14	24785074	Missense_Mutation	SNP	T	TCGA-US-A77E-01A-11D-A32N-08		24785074	82564466	82	25335											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													3	40					0	0	1	0	0	A	37050517	G	A	37050517	3	1	39	1	0	0	0	0	1	0	0	0	10501	1115	39	1	413	1	NKX2-8	14	37050517	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	12265443	37050517	70299023	83	25336											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000554565.1_Silent_p.Y627Y|BTBD7_ENST00000393170.2_Silent_p.Y552Y	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													5	416					0	0	1	0	0	A	93709084	G	A	93709084	2	1	39	1	0	0	0	0	0	0	0	1	1549	1372	48	2		2	BTBD7	14	93709084	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	56658567	93709084	13640456	84	25337											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	585					0	0	1	0	0	A	95677190	G	A	95677190	3	1	39	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	85	25338											
INO80	54617	broad.mit.edu	37	chr15	41280045	41280045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggctctttgcagaatgCgttcttcaatggtgccttta	9	10	3	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr15:41280045C>T	ENST00000361937.3	-	30	4122	c.3698G>A	c.(3697-3699)cGc>cAc	p.R1233H	INO80_ENST00000561244.1_5'UTR|INO80_ENST00000401393.3_Missense_Mutation_p.R1233H			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1233	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal.				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						TTGCAGAATGCGTTCTTCAAT	0.507													6	822					0	0	1	0	0	T	41280045	C	T	41280045	3	4	39	1	0	0	0	0	1	0	0	0	7790	768	27	1	1000	1	INO80	15	41280045	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08		41280045	61251347	86	25339											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr15:63353068G>T	ENST00000357980.4	+	6	698	c.618_splice	c.e6-1	p.V207_splice	TPM1_ENST00000288398.6_Splice_Site_p.V165_splice|TPM1_ENST00000560959.1_Splice_Site_p.V129_splice|TPM1_ENST00000317516.7_Splice_Site_p.V129_splice|TPM1_ENST00000358278.3_Splice_Site_p.V165_splice|TPM1_ENST00000334895.5_Splice_Site_p.V129_splice|TPM1_ENST00000559556.1_Splice_Site_p.V165_splice|TPM1_ENST00000559397.1_Splice_Site_p.V165_splice|TPM1_ENST00000267996.7_Splice_Site_p.V165_splice|TPM1_ENST00000404484.4_Splice_Site_p.V129_splice|TPM1_ENST00000559281.1_Splice_Site_p.V129_splice|TPM1_ENST00000403994.3_Splice_Site_p.V165_splice|TPM1_ENST00000560445.1_Intron			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													43	193					6.31075e-24	6.69516e-24	1	1	0	T	63353068	G	T	63353068	5	4	39	1	0	0	0	0	0	0	1	0	16466	1275	44	2	777	2	TPM1	15	63353068	Splice_Site	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	22073023	63353068	39178324	87	25340											
ISG20	3669	broad.mit.edu	37	chr15	89182651	89182652	+	Frame_Shift_Ins	INS	-	-	C													gcgagatggtggggctggggINSccccaccgggagagtggcct							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr15:89182651_89182652insC	ENST00000306072.5	+	2	412_413	c.54_55insC	c.(52-57)ggcccafs	p.GP18fs	ISG20_ENST00000560741.1_Frame_Shift_Ins_p.GP18fs|ISG20_ENST00000379224.5_Frame_Shift_Ins_p.GP18fs	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	18					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			TGGGGCTGGGGCCCCACCGGGA	0.639											OREG0023441	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	134	---	---	---	---						C	89182652	-	C	89182651	7	5	39	1	0	1	1	0	0	0	0	0	7898	1190	42	0	56	0	ISG20	15	89182651	Frame_Shift_Ins	INS	-	TCGA-US-A77E-01A-11D-A32N-08	25829583	89182651	13348741	88	25341											
ACAN	176	broad.mit.edu	37	chr15	89399992	89399992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggagtagaggacatcagCgggcttccttctggagaagt	14	9	2	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr15:89399992C>T	ENST00000439576.2	+	12	4550	c.4176C>T	c.(4174-4176)agC>agT	p.S1392S	ACAN_ENST00000352105.7_Silent_p.S1392S|ACAN_ENST00000561243.1_Silent_p.S1392S|ACAN_ENST00000559004.1_Silent_p.S1392S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1392					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)			AGGACATCAGCGGGCTTCCTT	0.552													8	713					0	0	1	0	0	T	89399992	C	T	89399992	2	4	39	1	0	0	0	0	0	0	0	1	117	767	27	1		1	ACAN	15	89399992	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	217341	89399992	13131400	89	25342											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	361					0	0	1	0	0	A	1412884	G	A	1412884	3	1	39	1	0	0	0	0	1	0	0	0	6588	1203	42	2	838	2	GNPTG	16	1412884	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		1412884	88941869	90	25343											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	358					0	0	1	0	0	A	2763623	G	A	2763623	2	1	39	1	0	0	0	0	0	0	0	1	12670	1372	48	2		2	PRSS27	16	2763623	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	1350739	2763623	87591130	91	25344											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													63	282					0	0	1	0	0	A	17352929	G	A	17352929	3	1	39	1	0	0	0	0	1	0	0	0	17523	1116	39	1	2090	1	XYLT1	16	17352929	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	14589306	17352929	73001824	92	25345											
EIF3C	8663	broad.mit.edu	37	chr16	28734579	28734581	+	In_Frame_Del	DEL	GAG	GAG	-													ggaaatccaagcgcctggatGaggaggaggaggacaatgaa							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:28734579_28734581delGAG	ENST00000331666.6	+	9	1057_1059	c.871_873delGAG	c.(871-873)del	p.E294del	EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del			Q99613	EIF3C_HUMAN	eukaryotic translation initiation factor 3, subunit C	294	Poly-Glu.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(5)|skin(1)	6						GCGCCTGGATGAGGAGGAGGAGG	0.562													8	2635	---	---	---	---						-	28734581	GAG	-	28734579	7	5	39	1	0	1	0	1	0	0	0	0	5040	1291	45	0	3726	0	EIF3C	16	28734579	In_Frame_Del	DEL	GAG	TCGA-US-A77E-01A-11D-A32N-08	11381650	28734579	61620174	93	25346											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													7	869					0	0	1	0	0	A	31090857	G	A	31090857	3	1	39	1	0	0	0	0	1	0	0	0	18119	1087	38	1	3214	1	ZNF646	16	31090857	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	2356278	31090857	59263896	94	25347											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000543930.1_Missense_Mutation_p.V225I|KIFC3_ENST00000540079.2_Missense_Mutation_p.V262I|KIFC3_ENST00000562903.1_Missense_Mutation_p.V225I|KIFC3_ENST00000421376.2_Missense_Mutation_p.V225I|KIFC3_ENST00000445690.2_Missense_Mutation_p.V364I|KIFC3_ENST00000541240.1_Missense_Mutation_p.V386I|KIFC3_ENST00000539578.1_Missense_Mutation_p.V306I|KIFC3_ENST00000465878.2_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													29	126					0	0	1	0	0	T	57803635	C	T	57803635	3	4	39	1	0	0	0	0	1	0	0	0	8356	536	19	1	1464	1	KIFC3	16	57803635	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	26712778	57803635	32551118	95	25348											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)			48	198					0	0	1	0	0	T	65032559	C	T	65032559	2	4	39	1	0	0	0	0	0	0	0	1	3119	639	23	1		1	CDH11	16	65032559	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	7228924	65032559	25322194	96	25349											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	FHOD1_ENST00000567687.1_Intron	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													37	233					0	0	1	0	0	T	67273270	C	T	67273270	3	4	39	1	0	0	0	0	1	0	0	0	5915	623	22	2	3289	2	FHOD1	16	67273270	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	2240711	67273270	23081483	97	25350											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	144					0	0	1	0	0	T	81942078	A	T	81942078	4	4	39	1	0	0	0	0	0	1	0	0	12084	247	9	5	1677	5	PLCG2	16	81942078	Nonsense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	14668808	81942078	8412675	98	25351											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	59					0	0	1	0	0	A	7369754	G	A	7369754	3	1	39	1	0	0	0	0	1	0	0	0	17600	1261	44	2	2682	2	ZBTB4	17	7369754	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		7369754	73825456	99	25352											
KRT34	3885	broad.mit.edu	37	chr17	39538355	39538355	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccattgaaggagccctcAcagaaccagttgcagttgct	10	12	1	2	rs111441823	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:39538355A>G	ENST00000394001.1	-	1	300	c.270T>C	c.(268-270)tgT>tgC	p.C90C		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	90	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)				AGGAGCCCTCACAGAACCAGT	0.642													11	553					0	0	1	0	0	G	39538355	A	G	39538355	2	3	39	1	0	0	0	0	0	0	0	1	8514	157	6	3		3	KRT34	17	39538355	Silent	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	32168601	39538355	41656855	100	25353											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													18	93					0	0	1	0	0	A	39643660	G	A	39643660	2	1	39	1	0	0	0	0	0	0	0	1	8516	1048	37	1		1	KRT36	17	39643660	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	105305	39643660	41551550	101	25354											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	86					0	0	1	0	0	T	73124988	C	T	73124988	3	4	39	1	0	0	0	0	1	0	0	0	955	893	31	1	462	1	ARMC7	17	73124988	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	33481328	73124988	8070222	102	25355											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													41	184					0	0	1	0	0	T	77081767	C	T	77081767	3	4	39	1	0	0	0	0	1	0	0	0	5146	652	23	1	1816	1	ENGASE	17	77081767	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	3956779	77081767	4113443	103	25356											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_848638.2	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													4	144					0	0	1	0	0	A	77705082	G	A	77705082	3	1	39	1	0	0	0	0	1	0	0	0	5163	1116	39	1	183	1	ENPP7	17	77705082	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	623315	77705082	3490128	104	25357											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													67	278					0	0	1	0	0	T	78085870	C	T	78085870	2	4	39	1	0	0	0	0	0	0	0	1	6182	547	19	1		1	GAA	17	78085870	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	380788	78085870	3109340	105	25358											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000269814.4_3'UTR|MED16_ENST00000589119.1_Nonsense_Mutation_p.W823*|MED16_ENST00000395808.3_Nonsense_Mutation_p.W823*			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													10	120					0	0	1	0	0	T	868430	C	T	868430	4	4	39	1	0	0	0	0	0	1	0	0	9484	856	30	2	172	2	MED16	19	868430	Nonsense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08		868430	58260553	106	25359											
HDGFRP2	0	broad.mit.edu	37	chr19	4491823	4491824	+	Frame_Shift_Ins	INS	-	-	A													ggggccctctggggggacggINSaaaaaaaaggtagcgtgcac							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:4491823_4491824insA	ENST00000301284.4	+	6	733_734	c.669_670insA	c.(667-672)cgaaaafs	p.RK223fs	HDGFRP2_ENST00000586684.1_Frame_Shift_Ins_p.RK223fs	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		223	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										TGGGGGGACGGAAAAAAAAGGT	0.634													8	342	---	---	---	---						A	4491824	-	A	4491823	7	5	39	1	0	1	1	0	0	0	0	0	7061	1161	41	0	691	0	HDGFRP2	19	4491823	Frame_Shift_Ins	INS	-	TCGA-US-A77E-01A-11D-A32N-08	3623393	4491823	54637160	107	25360											
TSHZ3	57616	broad.mit.edu	37	chr19	31769988	31769988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttgtcgtcgcggtaatgCcccgtctcgttcatgtgcac	12	12	2	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:31769988C>T	ENST00000240587.4	-	2	1038	c.711G>A	c.(709-711)ggG>ggA	p.G237G		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	237					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)					CGCGGTAATGCCCCGTCTCGT	0.582													6	872					0	0	1	0	0	T	31769988	C	T	31769988	2	4	39	1	0	0	0	0	0	0	0	1	16686	726	26	2		2	TSHZ3	19	31769988	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	27278165	31769988	27358995	108	25361											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													68	343					0	0	1	0	0	T	41096643	C	T	41096643	2	4	39	1	0	0	0	0	0	0	0	1	14339	726	26	2		2	SHKBP1	19	41096643	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	9326655	41096643	18032340	109	25362											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000292125.2_Missense_Mutation_p.P280L|PSG6_ENST00000402603.4_Intron	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													203	881					0	0	1	0	0	A	43411874	G	A	43411874	3	1	39	1	0	0	0	0	1	0	0	0	12708	1116	39	1	519	1	PSG6	19	43411874	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	2315231	43411874	15717109	110	25363											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													49	218					0	0	1	0	0	T	47823129	C	T	47823129	3	4	39	1	0	0	0	0	1	0	0	0	2296	536	19	1	100	1	C5AR1	19	47823129	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	4411255	47823129	11305854	111	25364											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000587891.1_Missense_Mutation_p.K193E|NLRP4_ENST00000346986.5_Missense_Mutation_p.K268E	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													60	281					0	0	1	0	0	G	56369561	A	G	56369561	3	3	39	1	0	0	0	0	1	0	0	0	10526	247	9	3	808	3	NLRP4	19	56369561	Missense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	8546432	56369561	2759422	112	25365											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													26	129					0	0	1	0	0	A	56467178	G	A	56467178	3	1	39	1	0	0	0	0	1	0	0	0	10530	1000	35	2	1764	2	NLRP8	19	56467178	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	97617	56467178	2661805	113	25366											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													27	156					0	0	1	0	0	A	20350394	G	A	20350394	3	1	39	1	0	0	0	0	1	0	0	0	7815	1059	37	1	1485	1	INSM1	20	20350394	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		20350394	42675126	114	25367											
FOXA2	3170	broad.mit.edu	37	chr20	22562677	22562677	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggtccattttgtggggttgGtggtggtggtggctgtggtg	21	3	0	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:22562677G>C	ENST00000419308.2	-	2	1387	c.1185C>G	c.(1183-1185)caC>caG	p.H395Q	FOXA2_ENST00000377115.4_Missense_Mutation_p.H395Q|FOXA2_ENST00000319993.4_Missense_Mutation_p.H401Q	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	395	Transactivation domain 2 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|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|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(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TGTGGGGTtggtggtggtggt	0.612													4	283					0	0	1	0	0	C	22562677	G	C	22562677	3	2	39	1	0	0	0	0	1	0	0	0	6023	1252	44	5	192	5	FOXA2	20	22562677	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	2212283	22562677	40462843	115	25368											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000373537.2_Intron|BLCAP_ENST00000397137.1_Intron|BLCAP_ENST00000397135.1_Intron|BLCAP_ENST00000414542.2_5'UTR|BLCAP_ENST00000467603.1_Intron|BLCAP_ENST00000397131.1_Intron|NNAT_ENST00000346199.2_Missense_Mutation_p.A6G	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													26	1001					0	0	1	0	0	G	36149750	C	G	36149750	3	3	39	1	0	0	0	0	1	0	0	0	10555	768	27	5	19	5	NNAT	20	36149750	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	13587073	36149750	26875770	116	25369											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													139	832					0	0	1	0	0	T	47324917	C	T	47324917	3	4	39	1	0	0	0	0	1	0	0	0	12528	768	27	1	4455	1	PREX1	20	47324917	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	11175167	47324917	15700603	117	25370											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306090.10_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)			84	204					0	0	1	0	0	A	57484421	G	A	57484421	3	1	39	1	0	0	0	0	1	0	0	0	6552	1145	40	1	3449	1	GNAS	20	57484421	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	10159504	57484421	5541099	118	25371											
KCNQ2	3785	broad.mit.edu	37	chr20	62078155	62078158	+	Frame_Shift_Del	DEL	ACAG	ACAG	-													actccttgatggtggaaaacAcagacagcacgaggcaggag							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:62078155_62078158delACAG	ENST00000354587.3	-	2	505_508	c.329_332delCTGT	c.(328-333)tgfs	p.SV110fs	KCNQ2_ENST00000359689.1_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000359125.2_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000357249.2_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000370221.1_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000430658.1_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000344462.3_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000360480.3_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000370222.3_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000370224.1_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000370226.1_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000344425.5_Frame_Shift_Del_p.SV110fs			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	110					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)	GGTGGAAAACACAGACAGCACGAG	0.632													61	578	---	---	---	---						-	62078158	ACAG	-	62078155	7	5	39	1	0	1	0	1	0	0	0	0	8127	159	6	0	2414	0	KCNQ2	20	62078155	Frame_Shift_Del	DEL	ACAG	TCGA-US-A77E-01A-11D-A32N-08	4593734	62078155	947365	119	25372											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													45	1430					0	0	1	0	0	G	11039066	A	G	11039066	1	3	39	0	1	0	0	0	0	0	0	0	1290	87	3	3		3	BAGE2	21	11039066	RNA	SNP	A	TCGA-US-A77E-01A-11D-A32N-08		11039066	37090829	120	25373											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000486519.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_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"								27	131					0	0	1	0	0	A	44524456	G	A	44524456	3	1	39	1	0	0	0	0	1	0	0	0	16882	942	33	2	720	2	U2AF1	21	44524456	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	33485390	44524456	3605439	121	25374											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													33	96					0	0	1	0	0	A	47552344	G	A	47552344	3	1	39	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	122	25375											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.H1590Y|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000590829.1_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													38	204					0	0	1	0	0	A	47664991	G	A	47664991	3	1	39	1	0	0	0	0	1	0	0	0	9438	1348	47	2	1198	2	MCM3AP	21	47664991	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	112647	47664991	464904	123	25376											
GNL3L	54552	broad.mit.edu	37	chrX	54578339	54578341	+	In_Frame_Del	DEL	GAA	GAA	-													gcagtggcccaccgtttgggGaagaagaagaagggaggctt							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chrX:54578339_54578341delGAA	ENST00000336470.4	+	12	1252_1254	c.1113_1115delGAA	c.(1111-1116)ggg>gg	p.GK371del	GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	371					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCGTTTGGGGAAGAAGAAGAAG	0.557													9	168	---	---	---	---						-	54578341	GAA	-	54578339	7	5	39	1	0	1	0	1	0	0	0	0	6580	1161	41	0	1155	0	GNL3L	23	54578339	In_Frame_Del	DEL	GAA	TCGA-US-A77E-01A-11D-A32N-08		54578339	100692221	124	25377											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.E264V	NM_000052.5	NP_000043.3	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													85	162					0	0	1	0	0	T	77244909	A	T	77244909	3	4	39	1	0	0	0	0	1	0	0	0	1188	246	9	5	801	5	ATP7A	23	77244909	Missense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	22666570	77244909	78025651	125	25378											
ATP2B3	492	broad.mit.edu	37	chrX	152845611	152845611	+	Frame_Shift_Del	DEL	C	C	-													gaacgaggagcgcctccgggCccccccgcccccgtccccca					rs149428057	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chrX:152845611delC	ENST00000263519.4	+	20	3644	c.3518delC	c.(3517-3519)gcfs	p.A1173fs	ATP2B3_ENST00000349466.2_Frame_Shift_Del_p.A1173fs|ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000370186.1_3'UTR	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1173					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)					CGCCTCCGGGCCCCCCCGCCC	0.587													9	382	---	---	---	---						-	152845611	C	-	152845611	7	5	39	1	0	1	0	1	0	0	0	0	1140	739	26	0	3754	0	ATP2B3	23	152845611	Frame_Shift_Del	DEL	C	TCGA-US-A77E-01A-11D-A32N-08	75600702	152845611	2424949	126	25379											
CCDC28B	79140	broad.mit.edu	37	chr1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-													ctttccaaggaacccgtctaTgtgtgtgtgttcctgagagg							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tfs	p.C192fs	CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										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)				AACCCGTCTATGTGTGTGTGTT	0.5													11	859	---	---	---	---						-	32670248	TG	-	32670247	7	5	40	1	0	1	0	1	0	0	0	0	2822	1479	51	0		0	CCDC28B	1	32670247	Frame_Shift_Del	DEL	TG	TCGA-US-A77G-01A-11D-A32N-08		32670247	216580374	1	25380											
SYNC	81493	broad.mit.edu	37	chr1	33160493	33160493	+	Frame_Shift_Del	DEL	T	T	-													tgctgcacctcttcatctcgTttttgcctcacaagtgcgat							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:33160493delT	ENST00000373484.3	-	2	1305	c.1206delA	c.(1204-1206)aafs	p.K402fs	SYNC_ENST00000409190.3_Frame_Shift_Del_p.K402fs	NM_001161708.1	NP_001155180.1	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	402	Coil 2.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTTCATCTCGTTTTTGCCTCA	0.542													7	1813	---	---	---	---						-	33160493	T	-	33160493	7	5	40	1	0	1	0	1	0	0	0	0	15500	1722	60	0	320	0	SYNC	1	33160493	Frame_Shift_Del	DEL	T	TCGA-US-A77G-01A-11D-A32N-08	490246	33160493	216090128	2	25381											
UQCRH	7388	broad.mit.edu	37	chr1	46775912	46775912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagagctctgtgatgagcGtgtatcctctcgatcacata	10	10	3	3			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:46775912G>A	ENST00000311672.5	+	3	303	c.167G>A	c.(166-168)cGt>cAt	p.R56H		NM_001089591.1|NM_006004.2	NP_001083060.1|NP_005995.2	P07919	QCR6_HUMAN	ubiquinol-cytochrome c reductase hinge protein	56					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity			large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TGTGATGAGCGTGTATCCTCT	0.512													5	455					0	0	1	0	0	A	46775912	G	A	46775912	3	1	40	1	0	0	0	0	1	0	0	0	17082	1145	40	1	177	1	UQCRH	1	46775912	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	13615419	46775912	202474709	3	25382											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	14	12	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		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)			gctgctgttgctgctgctgct	0.642													6	354					0	0	1	0	0	T	153907309	C	T	153907309	2	4	40	1	0	0	0	0	0	0	0	1	4462	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	107131397	153907309	95343312	4	25383											
SYT11	23208	broad.mit.edu	37	chr1	155851160	155851160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgttatcgacttcgatcGcaccaccaagaatgaggtgg	10	12	0	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:155851160G>A	ENST00000368324.4	+	4	1410	c.1157G>A	c.(1156-1158)cGc>cAc	p.R386H	SYT11_ENST00000539162.1_Missense_Mutation_p.R79H	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	386	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)			GACTTCGATCGCACCACCAAG	0.552													8	1056					0	0	1	0	0	A	155851160	G	A	155851160	3	1	40	1	0	0	0	0	1	0	0	0	15524	1087	38	1	1171	1	SYT11	1	155851160	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	1943851	155851160	93399461	5	25384											
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-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	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													5	372					0	0	1	0	0	A	156641485	G	A	156641485	3	1	40	1	0	0	0	0	1	0	0	0	10384	1087	38	1	2374	1	NES	1	156641485	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	790325	156641485	92609136	6	25385											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000366652.2_Silent_p.A555A|TRIM67_ENST00000366653.5_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													25	197					0	0	1	0	0	T	231339743	C	T	231339743	2	4	40	1	0	0	0	0	0	0	0	1	16601	639	23	1		1	TRIM67	1	231339743	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	74698258	231339743	17910878	7	25386											
OR2W5	0	broad.mit.edu	37	chr1	247654805	247654805	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatgaccgctatgtggccGtctgccggtccctgcactac	10	17	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:247654805G>A	ENST00000522351.1	+	0	436							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)			CTATGTGGCCGTCTGCCGGTC	0.587													5	405					0	0	1	0	0	A	247654805	G	A	247654805	1	1	40	0	1	0	0	0	0	0	0	0	11082	1145	40	1		1	OR2W5	1	247654805	RNA	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	16315062	247654805	1595816	8	25387											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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								5	407					0	0	1	0	0	T	25471001	C	T	25471001	3	4	40	1	0	0	0	0	1	0	0	0	4703	768	27	1	2046	1	DNMT3A	2	25471001	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08		25471001	217728372	9	25388											
TCF23	150921	broad.mit.edu	37	chr2	27373157	27373157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacatagcccacctcacccGcacactcggccacgagttgc	7	19	1	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:27373157G>A	ENST00000296096.5	+	2	519	c.389G>A	c.(388-390)cGc>cAc	p.R130H		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	130	Helix-loop-helix motif.				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)					CACCTCACCCGCACACTCGGC	0.652													7	924					0	0	1	0	0	A	27373157	G	A	27373157	3	1	40	1	0	0	0	0	1	0	0	0	15752	1087	38	1	395	1	TCF23	2	27373157	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	1902156	27373157	215826216	10	25389											
STON1	11037	broad.mit.edu	37	chr2	48809302	48809302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtacctctggatgcctgCcggtttgagctgatgcgttt	12	9	1	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:48809302C>T	ENST00000309835.3	+	1	1540	c.1530C>T	c.(1528-1530)tgC>tgT	p.C510C	STON1_ENST00000404752.1_Silent_p.C510C|STON1-GTF2A1L_ENST00000402114.2_Silent_p.C510C|STON1-GTF2A1L_ENST00000394751.3_Silent_p.C510C|STON1-GTF2A1L_ENST00000309827.2_Silent_p.C510C|STON1-GTF2A1L_ENST00000394754.1_Silent_p.C510C|STON1_ENST00000406226.1_Silent_p.C510C|STON1-GTF2A1L_ENST00000405008.1_Silent_p.C510C					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)			TGGATGCCTGCCGGTTTGAGC	0.403													5	422					0	0	1	0	0	T	48809302	C	T	48809302	2	4	40	1	0	0	0	0	0	0	0	1	15372	747	26	2		2	STON1	2	48809302	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	21436145	48809302	194390071	11	25390											
AFTPH	54812	broad.mit.edu	37	chr2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-													cattagacaatggagcagagGatgatgatgatgatgaattt							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)del	p.D26del	AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					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						TGGAGCAGAGGATGATGATGATG	0.409													7	582	---	---	---	---						-	64778674	GAT	-	64778672	7	5	40	1	0	1	0	1	0	0	0	0	363	1174	41	0	66	0	AFTPH	2	64778672	In_Frame_Del	DEL	GAT	TCGA-US-A77G-01A-11D-A32N-08	15969370	64778672	178420701	12	25391											
HK2	3099	broad.mit.edu	37	chr2	75107448	75107448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcccggctgcgatgtccGcttcctccgctccgaggatg	14	15	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:75107448G>A	ENST00000290573.2	+	10	1922	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	HK2_ENST00000409174.1_Missense_Mutation_p.R413H	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	441	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						TGCGATGTCCGCTTCCTCCGC	0.612													8	1055					0	0	1	0	0	A	75107448	G	A	75107448	3	1	40	1	0	0	0	0	1	0	0	0	7232	1087	38	1	1360	1	HK2	2	75107448	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	10328776	75107448	168091925	13	25392											
SCN2A	6326	broad.mit.edu	37	chr2	166165305	166165305	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacagtcattacttttgcGtaagtatcttaatacatttt	4	7	3	0	rs2228981		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:166165305G>A	ENST00000375437.2	+	5	895		c.e5+1		SCN2A_ENST00000283256.6_Splice_Site|SCN2A_ENST00000375427.2_Splice_Site|SCN2A_ENST00000357398.3_Splice_Site	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit						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)	TTACTTTTGCGTAAGTATCTT	0.363													4	192					0	0	1	0	0	A	166165305	G	A	166165305	5	1	40	1	0	0	0	0	0	0	1	0	13970	1159	40	1	620	1	SCN2A	2	166165305	Splice_Site	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	91057857	166165305	77034068	14	25393											
HOXD13	3239	broad.mit.edu	37	chr2	176959246	176959246	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccggacatgtgcgtctacCgaagagggaggaagaagaga	16	7	1	3			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:176959246C>A	ENST00000392539.3	+	2	820	c.820C>A	c.(820-822)Cga>Aga	p.R274R		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	274					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)		GTGCGTCTACCGAAGAGGGAG	0.463			T	NUP98	AML*								4	224					0.00024832	0.000257136	1	1	0	A	176959246	C	A	176959246	2	1	40	1	0	0	0	0	0	0	0	1	7363	644	23	4		4	HOXD13	2	176959246	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	10793941	176959246	66240127	15	25394											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409422.1_Missense_Mutation_p.R228H|ATG9A_ENST00000361242.4_Missense_Mutation_p.R289H|ATG9A_ENST00000396761.2_Missense_Mutation_p.R289H			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													28	95					0	0	1	0	0	T	220089227	C	T	220089227	3	4	40	1	0	0	0	0	1	0	0	0	1101	768	27	1	1689	1	ATG9A	2	220089227	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	43129981	220089227	23110146	16	25395											
IRS1	3667	broad.mit.edu	37	chr2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-													ctctggagggtgcagcaaggGctgctgctgctgctgctgct							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:227660808_227660810delGCT	ENST00000305123.4	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)ccc>c	p.QP882del		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				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)		TGCAGCAAGGgctgctgctgctg	0.626													13	289	---	---	---	---						-	227660810	GCT	-	227660808	7	5	40	1	0	1	0	1	0	0	0	0	7884	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-US-A77G-01A-11D-A32N-08	7571581	227660808	15538565	17	25396											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000383800.4_Silent_p.Y370Y|ATP2B2_ENST00000360273.2_Silent_p.Y415Y|ATP2B2_ENST00000352432.4_Silent_p.Y415Y|ATP2B2_ENST00000343816.4_Silent_p.Y401Y			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													48	142					0	0	1	0	0	A	10417285	G	A	10417285	2	1	40	1	0	0	0	0	0	0	0	1	1139	1024	36	2		2	ATP2B2	3	10417285	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		10417285	187605145	18	25397											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000605932.1_Missense_Mutation_p.M7R|OXNAD1_ENST00000544043.1_Missense_Mutation_p.M25R|OXNAD1_ENST00000435829.2_Missense_Mutation_p.M25R|OXNAD1_ENST00000606098.1_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													125	487					0	0	1	0	0	G	16312479	T	G	16312479	3	3	40	1	0	0	0	0	1	0	0	0	11380	1464	51	3	22	3	OXNAD1	3	16312479	Missense_Mutation	SNP	T	TCGA-US-A77G-01A-11D-A32N-08	5895194	16312479	181709951	19	25398											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000425664.1_Missense_Mutation_p.R689C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R689C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R689C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R689C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R689C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R689C|SCN5A_ENST00000450102.2_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													54	258					0	0	1	0	0	A	38639417	G	A	38639417	3	1	40	1	0	0	0	0	1	0	0	0	13976	1116	39	1	4045	1	SCN5A	3	38639417	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	22326938	38639417	159383013	20	25399											
TDGF1	6997	broad.mit.edu	37	chr3	46620830	46620830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcctcggtcttcccagcGtgtgccgcccatggggatac	13	15	1	0	rs148262628		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:46620830G>A	ENST00000296145.5	+	3	930	c.197G>A	c.(196-198)cGt>cAt	p.R66H	LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.R50H	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	66					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TCTTCCCAGCGTGTGCCGCCC	0.552													4	291					0	0	1	0	0	A	46620830	G	A	46620830	3	1	40	1	0	0	0	0	1	0	0	0	15785	1145	40	1	207	1	TDGF1	3	46620830	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	7981413	46620830	151401600	21	25400											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													20	71					0	0	1	0	0	T	47452686	C	T	47452686	3	4	40	1	0	0	0	0	1	0	0	0	12840	913	32	2	3476	2	PTPN23	3	47452686	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	831856	47452686	150569744	22	25401											
MST1	4485	broad.mit.edu	37	chr3	49723596	49723596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgcctctgagccgtcgGggttccggcagaagttctcc	15	13	2	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:49723596G>A	ENST00000449682.2	-	9	1407	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	335	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P335L(5)		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)		TGAGCCGTCGGGGTTCCGGCA	0.667													6	141					0	0	1	0	0	A	49723596	G	A	49723596	3	1	40	1	0	0	0	0	1	0	0	0	9938	1232	43	2	1171	2	MST1	3	49723596	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	2270910	49723596	148298834	23	25402											
GNAI2	2771	broad.mit.edu	37	chr3	50290580	50290580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcaggcctgctttggccGctcaagggaataccagctca	12	12	2	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:50290580G>A	ENST00000313601.6	+	4	812	c.428G>A	c.(427-429)cGc>cAc	p.R143H	GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000536647.1_Missense_Mutation_p.R62H|GNAI2_ENST00000266027.5_Missense_Mutation_p.R127H|GNAI2_ENST00000422163.1_Missense_Mutation_p.R127H|GNAI2_ENST00000451956.1_Missense_Mutation_p.R106H|GNAI2_ENST00000440628.1_Missense_Mutation_p.R91H	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	143					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.R143H(1)		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)		TGCTTTGGCCGCTCAAGGGAA	0.657													6	969					0	0	1	0	0	A	50290580	G	A	50290580	3	1	40	1	0	0	0	0	1	0	0	0	6547	1087	38	1	453	1	GNAI2	3	50290580	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	566984	50290580	147731850	24	25403											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_056327.4	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													41	160					0	0	1	0	0	T	52383089	C	T	52383089	2	4	40	1	0	0	0	0	0	0	0	1	4625	668	24	2		2	DNAH1	3	52383089	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	2092509	52383089	145639341	25	25404											
LRIG1	26018	broad.mit.edu	37	chr3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-													caggcaaaggtcatgggggaGctgctgctgctggctgctga							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:66436625_66436627delGCT	ENST00000383703.3	-	14	2242_2244	c.1639_1641delAGC	c.(1639-1641)del	p.S548del	LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	524	Ig-like C2-type 1.					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)		TCATGGGGGAGCTGCTGCTGCTG	0.547													8	1288	---	---	---	---						-	66436627	GCT	-	66436625	7	5	40	1	0	1	0	1	0	0	0	0	8989	962	34	0	1740	0	LRIG1	3	66436625	In_Frame_Del	DEL	GCT	TCGA-US-A77G-01A-11D-A32N-08	14053536	66436625	131585805	26	25405											
FRMD4B	23150	broad.mit.edu	37	chr3	69230188	69230188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccttctgcccagaggcccGctggtaccagccacgcaagt	10	16	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:69230188G>A	ENST00000542259.1	-	22	3002	c.2551C>T	c.(2551-2553)Cgg>Tgg	p.R851W	FRMD4B_ENST00000478263.1_Missense_Mutation_p.R557W|FRMD4B_ENST00000398540.3_Missense_Mutation_p.R905W			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	905						cytoplasm|cytoskeleton	binding			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)		CCAGAGGCCCGCTGGTACCAG	0.587													6	213					0	0	1	0	0	A	69230188	G	A	69230188	3	1	40	1	0	0	0	0	1	0	0	0	6087	1086	38	1	403	1	FRMD4B	3	69230188	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	2793563	69230188	128792242	27	25406											
CLDN16	10686	broad.mit.edu	37	chr3	190126162	190126162	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtatgtggaacgttctActttggttttgcacaatata	9	5	1	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:190126162A>G	ENST00000264734.2	+	4	900	c.652A>G	c.(652-654)Act>Gct	p.T218A	CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	218					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GGAACGTTCTACTTTGGTTTT	0.438													6	999					0	0	1	0	0	G	190126162	A	G	190126162	3	3	40	1	0	0	0	0	1	0	0	0	3500	391	14	3	666	3	CLDN16	3	190126162	Missense_Mutation	SNP	A	TCGA-US-A77G-01A-11D-A32N-08	120895974	190126162	7896268	28	25407											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													37	134					0	0	1	0	0	A	38799732	G	A	38799732	4	1	40	1	0	0	0	0	0	1	0	0	16009	1299	45	2	1643	2	TLR1	4	38799732	Nonsense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		38799732	152354544	29	25408											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													83	360					0	0	1	0	0	G	69337338	A	G	69337338	3	3	40	1	0	0	0	0	1	0	0	0	16302	363	13	3	505	3	TMPRSS11E	4	69337338	Missense_Mutation	SNP	A	TCGA-US-A77G-01A-11D-A32N-08	30537606	69337338	121816938	30	25409											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000412923.2_Missense_Mutation_p.I910N|PCDH18_ENST00000511115.1_Missense_Mutation_p.I91N|PCDH18_ENST00000510305.1_Missense_Mutation_p.I122N|PCDH18_ENST00000507846.1_Missense_Mutation_p.I690N	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													162	584					0	0	1	0	0	T	138449640	A	T	138449640	3	4	40	1	0	0	0	0	1	0	0	0	11560	101	4	5	683	5	PCDH18	4	138449640	Missense_Mutation	SNP	A	TCGA-US-A77G-01A-11D-A32N-08	69112302	138449640	52704636	31	25410											
MAML3	55534	broad.mit.edu	37	chr4	140811492	140811492	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatcccatggagacatgtgcGaagggagagtgagaggggtc	18	6	0	3			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr4:140811492G>A	ENST00000509479.2	-	2	1954	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	MAML3_ENST00000327122.5_Silent_p.F210F	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	366					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)					AGACATGTGCGAAGGGAGAGT	0.562													5	335					0	0	1	0	0	A	140811492	G	A	140811492	2	1	40	1	0	0	0	0	0	0	0	1	9257	1049	37	1		1	MAML3	4	140811492	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	2361852	140811492	50342784	32	25411											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:35691186_35691187insCCACCCT	ENST00000440995.2	+	11	1572_1573	c.1572_1573insCCACCCT	c.(1570-1575)ttcaccfs	p.T525fs	SPEF2_ENST00000356031.3_Frame_Shift_Ins_p.T525fs|SPEF2_ENST00000509059.1_Frame_Shift_Ins_p.T525fs|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	525					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													26	304	---	---	---	---						CCACCCT	35691187	-	CCACCCT	35691186	7	5	40	1	0	1	1	0	0	0	0	0	15091	388	14	0	1635	0	SPEF2	5	35691186	Frame_Shift_Ins	INS	-	TCGA-US-A77G-01A-11D-A32N-08		35691186	145224074	33	25412											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000510316.1_Missense_Mutation_p.D235V|ENC1_ENST00000537006.1_Missense_Mutation_p.D308V	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													51	226					0	0	1	0	0	A	73931388	T	A	73931388	3	1	40	1	0	0	0	0	1	0	0	0	5141	1667	58	5	850	5	ENC1	5	73931388	Missense_Mutation	SNP	T	TCGA-US-A77G-01A-11D-A32N-08	38240202	73931388	106983872	34	25413											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)					6	722					0	0	1	0	0	A	79974874	G	A	79974874	2	1	40	1	0	0	0	0	0	0	0	1	9920	962	34	2		2	MSH3	5	79974874	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	6043486	79974874	100940386	35	25414											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	289					0	0	1	0	0	A	129520070	G	A	129520070	3	1	40	1	0	0	0	0	1	0	0	0	3435	1087	38	1	1245	1	CHSY3	5	129520070	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	49545196	129520070	51395190	36	25415											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.S680S|PCDHA1_ENST00000394633.3_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													80	334					0	0	1	0	0	A	140216008	G	A	140216008	2	1	40	1	0	0	0	0	0	0	0	1	11576	1074	38	1		1	PCDHA7	5	140216008	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	10695938	140216008	40699252	37	25416											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHA8_ENST00000378123.3_Silent_p.H41H|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_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													34	332					0	0	1	0	0	T	140221029	C	T	140221029	2	4	40	1	0	0	0	0	0	0	0	1	11577	535	19	1		1	PCDHA8	5	140221029	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	5021	140221029	40694231	38	25417											
PCDHA12	0	broad.mit.edu	37	chr5	140255216	140255216	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcatcgctcaggacctgggGctggagctggcggagctggt	18	11	1	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:140255216G>A	ENST00000398631.2	+	1	159	c.159G>A	c.(157-159)ggG>ggA	p.G53G	PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.1	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)			AGGACCTGGGGCTGGAGCTGG	0.627													5	477					0	0	1	0	0	A	140255216	G	A	140255216	2	1	40	1	0	0	0	0	0	0	0	1	11569	1190	42	2		2	PCDHA12	5	140255216	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	34187	140255216	40660044	39	25418											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													8	901					0	0	1	0	0	C	140503632	T	C	140503632	2	2	40	1	0	0	0	0	0	0	0	1	11591	1538	54	3		3	PCDHB4	5	140503632	Silent	SNP	T	TCGA-US-A77G-01A-11D-A32N-08	248416	140503632	40411628	40	25419											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	925					0	0	1	0	0	A	140573626	G	A	140573626	3	1	40	1	0	0	0	0	1	0	0	0	11582	1087	38	1	1503	1	PCDHB10	5	140573626	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	69994	140573626	40341634	41	25420											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_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)			TGCAGGGGGCGCCCCTGTCCT	0.562													39	149					0	0	1	0	0	A	140773877	G	A	140773877	2	1	40	1	0	0	0	0	0	0	0	1	11607	1074	38	1		1	PCDHGA8	5	140773877	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	200251	140773877	40141383	42	25421											
FGFR4	2264	broad.mit.edu	37	chr5	176520430	176520430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctggagtcaggctcttcCggcaagtcaagctcatccct	9	15	4	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:176520430C>T	ENST00000393648.2	+	10	1303	c.1121C>T	c.(1120-1122)cCg>cTg	p.P374L	FGFR4_ENST00000502906.1_Silent_p.S425S|FGFR4_ENST00000393637.1_Silent_p.S385S|FGFR4_ENST00000292408.4_Silent_p.S425S|FGFR4_ENST00000292410.3_Silent_p.S385S			P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	0					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)	CAGGCTCTTCCGGCAAGTCAA	0.622										TSP Lung(9;0.080)			110	433					0	0	1	0	0	T	176520430	C	T	176520430	3	4	40	1	0	0	0	0	1	0	0	0	5901	639	23	1	1379	1	FGFR4	5	176520430	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	35746553	176520430	4394830	43	25422											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	730					0	0	1	0	0	T	27114417	C	T	27114417	3	4	40	1	0	0	0	0	1	0	0	0	7191	739	26	2	223	2	HIST1H2BK	6	27114417	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08		27114417	144000650	44	25423											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													66	200					0	0	1	0	0	A	29641221	G	A	29641221	3	1	40	1	0	0	0	0	1	0	0	0	17709	1145	40	1	947	1	ZFP57	6	29641221	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	2526804	29641221	141473846	45	25424											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	306					0	0	1	0	0	A	33690692	G	A	33690692	2	1	40	1	0	0	0	0	0	0	0	1	7834	1136	40	1		1	IP6K3	6	33690692	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	4049471	33690692	137424375	46	25425											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	226					0	0	1	0	0	A	36489591	G	A	36489591	3	1	40	1	0	0	0	0	1	0	0	0	15359	1144	40	1	1127	1	STK38	6	36489591	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	2798899	36489591	134625476	47	25426											
RUNX2	860	broad.mit.edu	37	chr6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcaacagcagcagcagcagCaggaggcggcggcggcggct	18	12	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				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						gcagcagcagcaggaggcggc	0.716													5	78					0	0	1	0	0	G	45390482	C	G	45390482	3	3	40	1	0	0	0	0	1	0	0	0	13800	711	25	5	233	5	RUNX2	6	45390482	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	8900891	45390482	125724585	48	25427											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				59	176					0	0	1	0	0	A	42005520	G	A	42005520	3	1	40	1	0	0	0	0	1	0	0	0	6481	1086	38	1	1595	1	GLI3	7	42005520	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		42005520	117133143	49	25428											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000413916.1_Missense_Mutation_p.S684R|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S742R|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.S710R	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													17	83					0	0	1	0	0	G	44805162	C	G	44805162	3	3	40	1	0	0	0	0	1	0	0	0	17755	767	27	5	2284	5	ZMIZ2	7	44805162	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	2799642	44805162	114333501	50	25429											
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-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr7:56142409C>T	ENST00000434526.2	+	5	603	c.572C>T	c.(571-573)gCc>gTc	p.A191V	SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V|SUMF2_ENST00000413756.1_Missense_Mutation_p.A172V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V|SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000437307.2_Intron	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	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)	7	465					0	0	1	0	0	T	56142409	C	T	56142409	3	4	40	1	0	0	0	0	1	0	0	0	15442	739	26	2	590	2	SUMF2	7	56142409	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	11337247	56142409	102996254	51	25430											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_874365.3	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													8	23					0	0	1	0	0	A	144896264	G	A	144896264	3	1	40	1	0	0	0	0	1	0	0	0	13991	1087	38	1	4927	1	SCRIB	8	144896264	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		144896264	1467758	52	25431											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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*	CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.Q50*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000361570.3_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)			171	558					0	0	1	0	0	A	21974679	G	A	21974679	4	1	40	1	0	0	0	0	0	1	0	0	3183	1357	47	2	535	2	CDKN2A	9	21974679	Nonsense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		21974679	119238752	53	25432											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000539225.1_Missense_Mutation_p.S1099T|TJP2_ENST00000348208.4_Intron|TJP2_ENST00000453658.2_Intron|TJP2_ENST00000535702.1_Missense_Mutation_p.S1035T	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													5	236					0	0	1	0	0	C	71866162	G	C	71866162	3	2	40	1	0	0	0	0	1	0	0	0	15990	1029	36	5	3544	5	TJP2	9	71866162	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	49891483	71866162	69347269	54	25433											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	77					0	0	1	0	0	A	78790148	G	A	78790148	3	1	40	1	0	0	0	0	1	0	0	0	11650	1189	41	2		2	PCSK5	9	78790148	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	6923986	78790148	62423283	55	25434											
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-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	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													7	1166					0	0	1	0	0	A	80921289	G	A	80921289	3	1	40	1	0	0	0	0	1	0	0	0	12693	1087	38	1	475	1	PSAT1	9	80921289	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	2131141	80921289	60292142	56	25435											
SGMS1	259230	broad.mit.edu	37	chr10	52071060	52071060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtaagtgttagcatgaccGtgtggccgctgtacagatag	14	7	0	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr10:52071060G>A	ENST00000361781.2	-	9	1816	c.857C>T	c.(856-858)aCg>aTg	p.T286M	SGMS1_ENST00000429490.1_Missense_Mutation_p.T117M	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	292					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						TAGCATGACCGTGTGGCCGCT	0.448													5	271					0	0	1	0	0	A	52071060	G	A	52071060	3	1	40	1	0	0	0	0	1	0	0	0	14268	1145	40	1	396	1	SGMS1	10	52071060	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		52071060	83463687	57	25436											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000338519.3_Silent_p.F328F|PKD2L1_ENST00000353274.3_Silent_p.F403F	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													43	151					0	0	1	0	0	A	102056026	G	A	102056026	2	1	40	1	0	0	0	0	0	0	0	1	12015	1165	41	2		2	PKD2L1	10	102056026	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	49984966	102056026	33478721	58	25437											
AFAP1L2	84632	broad.mit.edu	37	chr10	116100476	116100476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtcatccaactctgtcaGcagctgttccagggctaggg	12	11	3	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr10:116100476G>A	ENST00000369271.3	-	2	331	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	AFAP1L2_ENST00000304129.4_Silent_p.L11L|AFAP1L2_ENST00000545353.1_Silent_p.L11L	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	11					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)		AACTCTGTCAGCAGCTGTTCC	0.562													4	232					0	0	1	0	0	A	116100476	G	A	116100476	2	1	40	1	0	0	0	0	0	0	0	1	354	962	34	2		2	AFAP1L2	10	116100476	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	14044450	116100476	19434271	59	25438											
LRRC27	80313	broad.mit.edu	37	chr10	134165159	134165159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacccgacctcttgtcaccGtaccaaatggcgatccgagc	8	15	2	0	rs147065829		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr10:134165159G>A	ENST00000392638.2	+	8	1265	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	LRRC27_ENST00000344079.5_Missense_Mutation_p.R357H|LRRC27_ENST00000368613.4_Silent_p.P325P|LRRC27_ENST00000368610.3_Silent_p.P263P|LRRC27_ENST00000368612.1_Silent_p.P263P|LRRC27_ENST00000432555.2_Silent_p.P198P|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368615.3_Silent_p.P325P|LRRC27_ENST00000368614.3_Silent_p.P325P			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)		TCTTGTCACCGTACCAAATGG	0.527													6	833					0	0	1	0	0	A	134165159	G	A	134165159	3	1	40	1	0	0	0	0	1	0	0	0	9026	1145	40	1	1096	1	LRRC27	10	134165159	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	18064683	134165159	1369588	60	25439											
TRIM22	10346	broad.mit.edu	37	chr11	5730863	5730863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagtccccatgactgtgtgCccaccgagctcctgagtgtt	10	14	0	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:5730863C>T	ENST00000379965.3	+	8	1759	c.1482C>T	c.(1480-1482)tgC>tgT	p.C494C	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	494	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	p.C494C(1)		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)		TGACTGTGTGCCCACCGAGCT	0.498													5	527					0	0	1	0	0	T	5730863	C	T	5730863	2	4	40	1	0	0	0	0	0	0	0	1	16557	747	26	2		2	TRIM22	11	5730863	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08		5730863	129275653	61	25440											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	435					0	0	1	0	0	A	6452915	G	A	6452915	3	1	40	1	0	0	0	0	1	0	0	0	7387	1087	38	1	311	1	HPX	11	6452915	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	722052	6452915	128553601	62	25441											
OR5M3	219482	broad.mit.edu	37	chr11	56237633	56237633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctatcaaaggccatcgcaGcaagaataaaaatttccaca	5	10	2	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:56237633G>A	ENST00000312240.2	-	1	381	c.341C>T	c.(340-342)gCt>gTt	p.A114V		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	114					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)					GGCCATCGCAGCAAGAATAAA	0.368													5	447					0	0	1	0	0	A	56237633	G	A	56237633	3	1	40	1	0	0	0	0	1	0	0	0	11222	971	34	2	584	2	OR5M3	11	56237633	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	49784718	56237633	78768883	63	25442											
TAF1D	79101	broad.mit.edu	37	chr11	93471453	93471453	+	Frame_Shift_Del	DEL	T	T	-													gctggtacctcctctttttcTtttttttatatctctttttc							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:93471453delT	ENST00000448108.2	-	3	931	c.281delA	c.(280-282)agfs	p.K96fs		NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						CCTCTTTTTCTTTTTTTTATA	0.348													9	632	---	---	---	---						-	93471453	T	-	93471453	7	5	40	1	0	1	0	1	0	0	0	0	15579	1609	56	0	571	0	TAF1D	11	93471453	Frame_Shift_Del	DEL	T	TCGA-US-A77G-01A-11D-A32N-08	37233820	93471453	41535063	64	25443											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000360497.4_Missense_Mutation_p.R101H|TRPC6_ENST00000348423.4_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													99	447					0	0	1	0	0	T	101375398	C	T	101375398	3	4	40	1	0	0	0	0	1	0	0	0	16644	768	27	1	2541	1	TRPC6	11	101375398	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	7903945	101375398	33631118	65	25444											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													17	33					0	0	1	0	0	T	117651507	C	T	117651507	3	4	40	1	0	0	0	0	1	0	0	0	4795	739	26	2	6224	2	DSCAML1	11	117651507	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	16276109	117651507	17355009	66	25445											
TMPRSS13	84000	broad.mit.edu	37	chr11	117789415	117789415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgcctgggctggagatgCccggcccggaggtgtcccag	17	12	0	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:117789415C>T	ENST00000528626.1	-	2	233	c.160G>A	c.(160-162)Gca>Aca	p.A54T	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A54T|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A54T|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A54T|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.A54T	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	54	12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GCTGGAGATGCCCGGCCCGGA	0.687													5	343					0	0	1	0	0	T	117789415	C	T	117789415	3	4	40	1	0	0	0	0	1	0	0	0	16305	739	26	2	1591	2	TMPRSS13	11	117789415	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	137908	117789415	17217101	67	25446											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	751					0	0	1	0	0	A	667679	G	A	667679	2	1	40	1	0	0	0	0	0	0	0	1	1266	1074	38	1		1	B4GALNT3	12	667679	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		667679	133184216	68	25447											
ENO2	2026	broad.mit.edu	37	chr12	7030924	7030924	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caaggtcaaccagatcggctCggtcactgaagccatccaag	10	13	2	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:7030924C>A	ENST00000535366.1	+	8	1672	c.1046C>A	c.(1045-1047)tCg>tAg	p.S349*	ENO2_ENST00000545045.2_Nonsense_Mutation_p.S230*|ENO2_ENST00000544774.1_Nonsense_Mutation_p.S306*|ENO2_ENST00000541477.1_Nonsense_Mutation_p.S349*|ENO2_ENST00000229277.1_Nonsense_Mutation_p.S349*|ENO2_ENST00000538763.1_Nonsense_Mutation_p.S306*			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	349					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CAGATCGGCTCGGTCACTGAA	0.527													4	141					1	1	1	1	0	A	7030924	C	A	7030924	4	1	40	1	0	0	0	0	0	1	0	0	5150	893	31	4	1076	4	ENO2	12	7030924	Nonsense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	6363245	7030924	126820971	69	25448											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	RNA	INS	-	-	C													acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs36063533		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													7	63	---	---	---	---						C	7080213	-	C	7080212	6	5	40	0	1	1	1	0	0	0	0	0	5118	1722	60	0		0	EMG1	12	7080212	RNA	INS	-	TCGA-US-A77G-01A-11D-A32N-08	49288	7080212	126771683	70	25449											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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)			15	77					0	0	1	0	0	G	25398285	C	G	25398285	3	3	40	1	0	0	0	0	1	0	0	0	8481	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	18318073	25398285	108453610	71	25450											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000542058.1_Missense_Mutation_p.F455L|GNS_ENST00000418919.2_Missense_Mutation_p.F419L|GNS_ENST00000543646.1_Missense_Mutation_p.F507L	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													126	458					0	0	1	0	0	G	65113959	A	G	65113959	3	3	40	1	0	0	0	0	1	0	0	0	6592	43	2	3	243	3	GNS	12	65113959	Missense_Mutation	SNP	A	TCGA-US-A77G-01A-11D-A32N-08	39715674	65113959	68737936	72	25451											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													9	414					0	0	1	0	0	T	101760468	C	T	101760468	2	4	40	1	0	0	0	0	0	0	0	1	17159	639	23	1		1	UTP20	12	101760468	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	36646509	101760468	32091427	73	25452											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.S415S|SOHLH2_ENST00000554962.1_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													5	343					0	0	1	0	0	A	36744911	G	A	36744911	2	1	40	1	0	0	0	0	0	0	0	1	14978	1103	39	1		1	SOHLH2	13	36744911	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		36744911	78424967	74	25453											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000400330.1_Silent_p.E463E|DIAPH3_ENST00000377908.2_Silent_p.E452E|DIAPH3_ENST00000267215.4_Silent_p.E463E|DIAPH3_ENST00000400319.1_Silent_p.E393E|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Silent_p.E417E	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													85	337					0	0	1	0	0	T	60557994	C	T	60557994	2	4	40	1	0	0	0	0	0	0	0	1	4548	564	20	2		2	DIAPH3	13	60557994	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	23813083	60557994	54611884	75	25454											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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				87	416					4.78148e-37	5.19727e-37	1	1	0	T	45658329	G	T	45658329	3	4	40	1	0	0	0	0	1	0	0	0	5704	1174	41	2	5182	2	FANCM	14	45658329	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		45658329	61691211	76	25455											
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-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	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													6	726					0	0	1	0	0	A	68249561	G	A	68249561	2	1	40	1	0	0	0	0	0	0	0	1	17726	1140	40	1		1	ZFYVE26	14	68249561	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	22591232	68249561	39099979	77	25456											
ZFYVE1	53349	broad.mit.edu	37	chr14	73465019	73465019	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taataaagtcttcttcatttGttacctgcaaaaaaaaaaaa	3	6	3	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr14:73465019G>T	ENST00000556143.1	-	3	1208	c.488C>A	c.(487-489)aCa>aAa	p.T163K	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.T163K|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.T163K	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	163						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	p.T163K(1)		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)		TTCTTCATTTGTTACCTGCAA	0.353													10	103					0.000295444	0.000304133	1	1	0	T	73465019	G	T	73465019	3	4	40	1	0	0	0	0	1	0	0	0	17721	1377	48	2	1885	2	ZFYVE1	14	73465019	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	5215458	73465019	33884521	78	25457											
FLRT2	23768	broad.mit.edu	37	chr14	86087980	86087980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgccctagtgtgtgccGctgcgacaggaactttgtct	13	12	1	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr14:86087980G>A	ENST00000330753.4	+	2	889	c.122G>A	c.(121-123)cGc>cAc	p.R41H	FLRT2_ENST00000554746.1_Missense_Mutation_p.R41H	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	41	LRRNT.				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)		AGTGTGTGCCGCTGCGACAGG	0.542													6	560					0	0	1	0	0	A	86087980	G	A	86087980	3	1	40	1	0	0	0	0	1	0	0	0	5972	1087	38	1	124	1	FLRT2	14	86087980	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	12622961	86087980	21261560	79	25458											
SERPINA1	5265	broad.mit.edu	37	chr14	94844885	94844885	+	Frame_Shift_Del	DEL	G	G	-													ggtttgttgaacttgacctcGggggggatagacatgggtat					rs143329723	by1000genomes	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr14:94844885delG	ENST00000448921.1	-	7	1730	c.1158delC	c.(1156-1158)ccfs	p.P386fs	SERPINA1_ENST00000440909.1_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000437397.1_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000393088.4_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000404814.4_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000449399.3_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000393087.4_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000355814.4_Frame_Shift_Del_p.P386fs	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	386	RCL.		P -> H (in Sao Tome).|P -> T (in L-Offenbach).		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)	ACTTGACCTCGGGGGGGATAG	0.493													8	331	---	---	---	---						-	94844885	G	-	94844885	7	5	40	1	0	1	0	1	0	0	0	0	14140	1103	39	0	102	0	SERPINA1	14	94844885	Frame_Shift_Del	DEL	G	TCGA-US-A77G-01A-11D-A32N-08	8756905	94844885	12504655	80	25459											
GSC	145258	broad.mit.edu	37	chr14	95236204	95236205	+	In_Frame_Ins	INS	-	-	CGC													ggcgccatagtccgaggaggINScgccgccgctggcgccgtag							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr14:95236204_95236205insCGC	ENST00000238558.3	-	1	357_358	c.148_149insGCG	c.(148-150)ctc>GCGctc	p.50_51insA		NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox	50					gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		GTCCGAGGAGGCGCCGCCGCTG	0.762													8	8	---	---	---	---						CGC	95236205	-	CGC	95236204	7	5	40	1	0	1	1	0	0	0	0	0	6855	1203	42	0	636	0	GSC	14	95236204	In_Frame_Ins	INS	-	TCGA-US-A77G-01A-11D-A32N-08	391319	95236204	12113336	81	25460											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													6	329					5.9392e-07	6.2612e-07	1	1	0	A	63088384	C	A	63088384	3	1	40	1	0	0	0	0	1	0	0	0	16008	478	17	2	6116	2	TLN2	15	63088384	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08		63088384	39443008	82	25461											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	256					0	0	1	0	0	A	75043540	G	A	75043540	3	1	40	1	0	0	0	0	1	0	0	0	4173	1116	39	1	848	1	CYP1A2	15	75043540	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	11955156	75043540	27487852	83	25462											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													55	540					0	0	1	0	0	G	27640032	A	G	27640032	3	3	40	1	0	0	0	0	1	0	0	0	8225	159	6	3	205	3	KIAA0556	16	27640032	Missense_Mutation	SNP	A	TCGA-US-A77G-01A-11D-A32N-08		27640032	62714721	84	25463											
VAC14	55697	broad.mit.edu	37	chr16	70818038	70818038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagatgatgaactgccggGcatactggttgttggagtaa	15	5	0	3			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr16:70818038G>A	ENST00000261776.5	-	5	832	c.572C>T	c.(571-573)gCc>gTc	p.A191V		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	191					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)				GAACTGCCGGGCATACTGGTT	0.522													4	230					0	0	1	0	0	A	70818038	G	A	70818038	3	1	40	1	0	0	0	0	1	0	0	0	17171	1203	42	2	1836	2	VAC14	16	70818038	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	43178006	70818038	19536715	85	25464											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000262429.4_Missense_Mutation_p.A445V|ATP2C2_ENST00000420010.2_3'UTR			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													7	1091					0	0	1	0	0	T	84476138	C	T	84476138	3	4	40	1	0	0	0	0	1	0	0	0	1143	768	27	1	1392	1	ATP2C2	16	84476138	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	13658100	84476138	5878615	86	25465											
COTL1	23406	broad.mit.edu	37	chr16	84600451	84600451	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtggcgggggctggggTtactccgtctgggcgtcgta	20	8	1	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr16:84600451T>G	ENST00000262428.4	-	4	591	c.429A>C	c.(427-429)taA>taC	p.*143Y	COTL1_ENST00000567278.1_5'UTR|COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	0						cytoplasm|cytoskeleton	actin binding|enzyme binding			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GGGGCTGGGGTTACTCCGTCT	0.622													10	116					0	0	1	0	0	G	84600451	T	G	84600451	4	3	40	1	0	0	0	0	0	0	0	0	3784	1732	60	3	3	3	COTL1	16	84600451	Nonstop_Mutation	SNP	T	TCGA-US-A77G-01A-11D-A32N-08	124313	84600451	5754302	87	25466											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	137					1.024e-07	1.08606e-07	1	1	0	A	87636931	C	A	87636931	3	1	40	1	0	0	0	0	1	0	0	0	8006	536	19	4	181	4	JPH3	16	87636931	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	3036480	87636931	2717822	88	25467											
PRPF8	10594	broad.mit.edu	37	chr17	1584844	1584844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatattgagtgccttggacGtaaagaaggccttcaaatca	9	9	2	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:1584844G>A	ENST00000572621.1	-	5	1059	c.794C>T	c.(793-795)aCg>aTg	p.T265M	PRPF8_ENST00000304992.6_Missense_Mutation_p.T265M			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	265						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)		TGCCTTGGACGTAAAGAAGGC	0.463													6	597					0	0	1	0	0	A	1584844	G	A	1584844	3	1	40	1	0	0	0	0	1	0	0	0	12627	1145	40	1	6365	1	PRPF8	17	1584844	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		1584844	79610366	89	25468											
KIF1C	10749	broad.mit.edu	37	chr17	4926854	4926854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcagcccccagtgaccGcatgccgtcagcccggcccc	13	19	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:4926854G>A	ENST00000320785.5	+	23	3077	c.2720G>A	c.(2719-2721)cGc>cAc	p.R907H		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	907					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						CCCAGTGACCGCATGCCGTCA	0.662													4	203					0	0	1	0	0	A	4926854	G	A	4926854	3	1	40	1	0	0	0	0	1	0	0	0	8327	1087	38	1	2802	1	KIF1C	17	4926854	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	3342010	4926854	76268356	90	25469											
SMCR7	0	broad.mit.edu	37	chr17	18167778	18167780	+	In_Frame_Del	DEL	GCT	GCT	-													gacgctgggactcgccggcgGctgctgctgctgctgtgtgc							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:18167778_18167780delGCT	ENST00000323019.4	+	4	1276_1278	c.1065_1067delGCT	c.(1063-1068)cgg>cg	p.RL355del	SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del|SMCR7_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN		355						integral to membrane	protein binding	p.L356R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					CTCGCCGGCGGCTGCTGCTGCTG	0.685													9	370	---	---	---	---						-	18167780	GCT	-	18167778	7	5	40	1	0	1	0	1	0	0	0	0	14844	1190	42	0	1112	0	SMCR7	17	18167778	In_Frame_Del	DEL	GCT	TCGA-US-A77G-01A-11D-A32N-08	13240924	18167778	63027432	91	25470											
KIAA0100	9703	broad.mit.edu	37	chr17	26961605	26961605	+	Frame_Shift_Del	DEL	A	A	-													agatctaatccctcagggggAaaagggctgcctggatcaag							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:26961605delA	ENST00000528896.2	-	16	3074	c.3000delT	c.(2998-3000)ttfs	p.F1000fs	KIAA0100_ENST00000544884.1_Frame_Shift_Del_p.F857fs|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Frame_Shift_Del_p.F857fs	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1000						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)					CCTCAGGGGGAAAAGGGCTGC	0.498													7	490	---	---	---	---						-	26961605	A	-	26961605	7	5	40	1	0	1	0	1	0	0	0	0	8196	243	9	0	3803	0	KIAA0100	17	26961605	Frame_Shift_Del	DEL	A	TCGA-US-A77G-01A-11D-A32N-08	8793827	26961605	54233605	92	25471											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000579584.1_Silent_p.A483A|MYO1D_ENST00000394649.4_Silent_p.A395A|MYO1D_ENST00000584232.1_5'UTR	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													13	310					0	0	1	0	0	A	31082528	G	A	31082528	2	1	40	1	0	0	0	0	0	0	0	1	10119	1219	43	2		2	MYO1D	17	31082528	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	4120923	31082528	50112682	93	25472											
GPATCH8	23131	broad.mit.edu	37	chr17	42478477	42478477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagaggtcccttcctccGcatggtccttgaaaactgat	8	13	1	3	rs150312757	byFrequency	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:42478477G>A	ENST00000434000.1	-	9	1016	c.734C>T	c.(733-735)gCg>gTg	p.A245V	GPATCH8_ENST00000591680.1_Missense_Mutation_p.A323V			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	323						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)		CCCTTCCTCCGCATGGTCCTT	0.458											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	710					0	0	1	0	0	A	42478477	G	A	42478477	3	1	40	1	0	0	0	0	1	0	0	0	6634	1087	38	1	3544	1	GPATCH8	17	42478477	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	11395949	42478477	38716733	94	25473											
ACTG1	71	broad.mit.edu	37	chr17	79478121	79478121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtggtctcgtggatgccGcaagattccatacctagggg	14	9	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:79478121G>A	ENST00000575842.1	-	4	1242	c.816C>T	c.(814-816)tgC>tgT	p.C272C	AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Silent_p.C272C|ACTG1_ENST00000331925.2_Silent_p.C272C|ACTG1_ENST00000573283.1_Silent_p.C272C			P63261	ACTG_HUMAN	actin, gamma 1	272					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CGTGGATGCCGCAAGATTCCA	0.542													5	440					0	0	1	0	0	A	79478121	G	A	79478121	2	1	40	1	0	0	0	0	0	0	0	1	196	1079	38	1		1	ACTG1	17	79478121	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	36999644	79478121	1717089	95	25474											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr18:48604742_48604743delCC	ENST00000342988.3	+	12	2102_2103	c.1564_1565delCC	c.(1564-1566)tfs	p.P522fs	SMAD4_ENST00000588745.1_Frame_Shift_Del_p.P426fs|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.P522fs|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	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													77	241	---	---	---	---						-	48604743	CC	-	48604742	7	5	40	1	0	1	0	1	0	0	0	0	14814	507	18	0	1606	0	SMAD4	18	48604742	Frame_Shift_Del	DEL	CC	TCGA-US-A77G-01A-11D-A32N-08		48604742	29472506	96	25475											
ZNF878	729747	broad.mit.edu	37	chr19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacgaacagaactgggaaaActgaatgctttcccacactg	8	11	0	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:12155673A>C	ENST00000602107.1	-	5	683	c.684T>G	c.(682-684)agT>agG	p.S228R	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591898.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	181					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						AACTGGGAAAACTGAATGCTT	0.403													6	762					0	0	1	0	0	C	12155673	A	C	12155673	3	2	40	1	0	0	0	0	1	0	0	0	18239	40	2	3	1056	3	ZNF878	19	12155673	Missense_Mutation	SNP	A	TCGA-US-A77G-01A-11D-A32N-08		12155673	46973310	97	25476											
ACTN4	81	broad.mit.edu	37	chr19	39219655	39219655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgaggccgagttcaaccGcatcatgagcctggtcgacc	14	12	2	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:39219655G>A	ENST00000252699.2	+	20	2514	c.2438G>A	c.(2437-2439)cGc>cAc	p.R813H	ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000424234.2_Missense_Mutation_p.R423H|ACTN4_ENST00000390009.3_Missense_Mutation_p.R594H	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	813	EF-hand 2.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGTTCAACCGCATCATGAGC	0.637													5	458					0	0	1	0	0	A	39219655	G	A	39219655	3	1	40	1	0	0	0	0	1	0	0	0	207	1087	38	1	2516	1	ACTN4	19	39219655	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	27063982	39219655	19909328	98	25477											
PRX	57716	broad.mit.edu	37	chr19	40902612	40902612	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agtttcatctctgacactttCggcagctgtacctctggaag	9	11	3	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:40902612C>G	ENST00000324001.7	-	7	1917	c.1647G>C	c.(1645-1647)ccG>ccC	p.P549P	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	549	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	p.P549P(1)		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)			CTGACACTTTCGGCAGCTGTA	0.577													12	867					0	0	1	0	0	G	40902612	C	G	40902612	2	3	40	1	0	0	0	0	0	0	0	1	12691	871	31	5		5	PRX	19	40902612	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	1682957	40902612	18226371	99	25478											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													313	1299					1.78104e-58	1.94802e-58	1	1	0	T	43433639	G	T	43433639	1	4	40	0	1	0	0	0	0	0	0	0	12709	1232	43	2		2	PSG7	19	43433639	RNA	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	2531027	43433639	15695344	100	25479											
MAMSTR	284358	broad.mit.edu	37	chr19	49218105	49218106	+	Frame_Shift_Ins	INS	-	-	G													tctgaagttccaacttgtgtINSggggggggcgaggggctagg							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:49218105_49218106insG	ENST00000318083.6	-	6	548_549	c.485_486insC	c.(484-486)ccafs	p.P162fs	MAMSTR_ENST00000594582.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000356751.4_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000377367.3_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000419611.1_Frame_Shift_Ins_p.P59fs			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	162	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						CCAACTTGTGTGGGGGGGGCGA	0.569													8	457	---	---	---	---						G	49218106	-	G	49218105	7	5	40	1	0	1	1	0	0	0	0	0	9259	1683	59	0	781	0	MAMSTR	19	49218105	Frame_Shift_Ins	INS	-	TCGA-US-A77G-01A-11D-A32N-08	5784466	49218105	9910878	101	25480											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													4	157					0	0	1	0	0	A	49573549	G	A	49573549	3	1	40	1	0	0	0	0	1	0	0	0	8052	1087	38	1	232	1	KCNA7	19	49573549	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	355444	49573549	9555434	102	25481											
ZNF337	26152	broad.mit.edu	37	chr20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-													cacacataggacttctctccTgtgtgtgtgttctggtgcaa							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)afs	p.T231fs	RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs					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						ACTTCTCTCCTGTGTGTGTGTT	0.51													8	363	---	---	---	---						-	25657232	TG	-	25657231	7	5	40	1	0	1	0	1	0	0	0	0	17910	1567	55	0	1566	0	ZNF337	20	25657231	Frame_Shift_Del	DEL	TG	TCGA-US-A77G-01A-11D-A32N-08		25657231	37368289	103	25482											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr20:47247332C>A	ENST00000396220.1	-	35	4653	c.4630_splice	c.e35-1	p.G1544_splice	PREX1_ENST00000371941.3_Splice_Site_p.R1509_splice			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													60	190					3.84483e-29	4.15337e-29	1	1	0	A	47247332	C	A	47247332	5	1	40	1	0	0	0	0	0	0	1	0	12528	637	22	2	472	2	PREX1	20	47247332	Splice_Site	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	21590101	47247332	15778188	104	25483											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													5	656					0	0	1	0	0	A	54824819	G	A	54824819	3	1	40	1	0	0	0	0	1	0	0	0	9415	1087	38	1	922	1	MC3R	20	54824819	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	7577487	54824819	8200701	105	25484											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_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													6	486					0	0	1	0	0	T	31740473	C	T	31740473	2	4	40	1	0	0	0	0	0	0	0	1	11523	726	26	2		2	PATZ1	22	31740473	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08		31740473	19564093	106	25485											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													117	383					0	0	1	0	0	A	37707094	G	A	37707094	3	1	40	1	0	0	0	0	1	0	0	0	4229	1059	37	1	912	1	CYTH4	22	37707094	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	5966621	37707094	13597472	107	25486											
RBM10	8241	broad.mit.edu	37	chrX	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-													gactatcggaccgagcaaggGgaggaggaggaggaggagga							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggg>gg	p.GE112del	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR	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	112					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						CCGAGCAAGGggaggaggaggag	0.66													8	82	---	---	---	---						-	47030563	GGA	-	47030561	7	5	40	1	0	1	0	1	0	0	0	0	13163	1219	43	0	346	0	RBM10	23	47030561	In_Frame_Del	DEL	GGA	TCGA-US-A77G-01A-11D-A32N-08		47030561	108239999	108	25487											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	8	8	3	2	rs61754468	by1000genomes	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413													7	188					0	0	1	0	0	C	73811938	G	C	73811938	2	2	40	1	0	0	0	0	0	0	0	1	13442	1335	47	5		5	RLIM	23	73811938	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	26781377	73811938	81458622	109	25488											
IRS4	8471	broad.mit.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C													tcccacttcctgagcctttgINSccccccccagagttcttgcc							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)gaafs	p.E591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						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						CTGAGCCTTTGCCCCCCCCAGA	0.545													8	706	---	---	---	---						C	107977803	-	C	107977802	7	5	40	1	0	1	1	0	0	0	0	0	7886	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-US-A77G-01A-11D-A32N-08	34165864	107977802	47292758	110	25489											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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_ENST00000409007.1_Silent_p.P220P|MAGEC3_ENST00000536088.1_Silent_p.P220P|MAGEC3_ENST00000544766.1_Silent_p.P220P|MAGEC3_ENST00000443323.2_Silent_p.P140P	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													7	398					0	0	1	0	0	T	140985098	C	T	140985098	2	4	40	1	0	0	0	0	0	0	0	1	9232	639	23	1		1	MAGEC3	23	140985098	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	33007296	140985098	14285462	111	25490											
MAGEC1	9947	broad.mit.edu	37	chrX	140994960	140994960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagggggaggactccctGtctcctcactactttcctca	8	16	4	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590							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)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)			9	993					0	0	1	0	0	A	140994960	G	A	140994960	2	1	40	1	0	0	0	0	0	0	0	1	9230	1364	48	2		2	MAGEC1	23	140994960	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	9862	140994960	14275600	112	25491											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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													102	100					0	0	1	0	0	A	150869406	G	A	150869406	2	1	40	1	0	0	0	0	0	0	0	1	12657	1074	38	1		1	PRRG3	23	150869406	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	9874446	150869406	4401154	113	25492											
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	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)att>a	p.TQFSAF603del	SRPK3_ENST00000370104.1_In_Frame_Del_p.TQFSAF535del|SRPK3_ENST00000370108.3_In_Frame_Del_p.TQFSAF503del|SRPK3_ENST00000393786.3_In_Frame_Del_p.TQFSAF502del|SRPK3_ENST00000370101.3_In_Frame_Del_p.TQFSAF536del|SRPK3_ENST00000370100.1_In_Frame_Del_p.TQFSAF461del			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													85	182	---	---	---	---						-	153050892	CACAGTTCAGCGCCT	-	153050878	7	5	40	1	0	1	0	1	0	0	0	0	15217	478	17	0	1665	0	SRPK3	23	153050878	In_Frame_Del	DEL	CACAGTTCAGCGCCT	TCGA-US-A77G-01A-11D-A32N-08	2181472	153050878	2219682	114	25493											
F8	2157	broad.mit.edu	37	chrX	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-													gaatggctaaagaaaggttaTtttttttggctccttgtaag							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)atfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				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.N1460fs*5(2)|p.N1460fs*2(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)	AGAAAGGTTATTTTTTTTGGC	0.413													10	259	---	---	---	---						-	154157686	T	-	154157686	7	5	40	1	0	1	0	1	0	0	0	0	5378	1493	52	0	2756	0	F8	23	154157686	Frame_Shift_Del	DEL	T	TCGA-US-A77G-01A-11D-A32N-08	1106808	154157686	1112874	115	25494											
FAM159A	348378	broad.mit.edu	37	chr1	53108560	53108560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctctcataggcctgtccGtagcagcagtggttcttctc	11	13	3	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:53108560G>A	ENST00000517870.1	+	2	358	c.208G>A	c.(208-210)Gta>Ata	p.V70I	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	70						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						AGGCCTGTCCGTAGCAGCAGT	0.522													8	1007					0	0	1	0	0	A	53108560	G	A	53108560	3	1	41	1	0	0	0	0	1	0	0	0	5498	1145	40	1	214	1	FAM159A	1	53108560	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08		53108560	196142061	1	25495											
FAM151A	338094	broad.mit.edu	37	chr1	55089019	55089019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacacacaggtaatgccgGcaaacacccacttgacctga	8	14	0	3			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:55089019G>A	ENST00000302250.2	-	1	210	c.50C>T	c.(49-51)gCc>gTc	p.A17V	ACOT11_ENST00000371316.3_Intron|RP11-240D10.4_ENST00000416119.1_RNA|FAM151A_ENST00000371304.2_Missense_Mutation_p.A17V	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	17						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GGTAATGCCGGCAAACACCCA	0.602													5	592					0	0	1	0	0	A	55089019	G	A	55089019	3	1	41	1	0	0	0	0	1	0	0	0	5488	1203	42	2	1739	2	FAM151A	1	55089019	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	1980459	55089019	194161602	2	25496											
CELSR2	1952	broad.mit.edu	37	chr1	109807082	109807082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtccctcccagggtgtgCgggtgagcgatacgccggag	16	13	0	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:109807082C>T	ENST00000271332.3	+	11	5357	c.5296C>T	c.(5296-5298)Cgg>Tgg	p.R1766W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1766	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)		CCAGGGTGTGCGGGTGAGCGA	0.652													5	252					0	0	1	0	0	T	109807082	C	T	109807082	3	4	41	1	0	0	0	0	1	0	0	0	3244	759	27	1	5338	1	CELSR2	1	109807082	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	54718063	109807082	139443539	3	25497											
LRIG2	9860	broad.mit.edu	37	chr1	113652987	113652987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccatgtccactgtgtggcGcaaagacagtgaaatcctgt	10	11	0	2	rs145758987		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:113652987G>A	ENST00000361127.4	+	13	1799	c.1601G>A	c.(1600-1602)cGc>cAc	p.R534H	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	534	Ig-like C2-type 1.					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)		ACTGTGTGGCGCAAAGACAGT	0.448													5	527					0	0	1	0	0	A	113652987	G	A	113652987	3	1	41	1	0	0	0	0	1	0	0	0	8990	1087	38	1	1651	1	LRIG2	1	113652987	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	3845905	113652987	135597634	4	25498											
RPRD2	23248	broad.mit.edu	37	chr1	150444176	150444176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctatttggtgccttcagcGtaagagggaatgaacctggg	15	7	1	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:150444176G>A	ENST00000401000.4	+	10	2739	c.2674G>A	c.(2674-2676)Gta>Ata	p.V892I	RPRD2_ENST00000369068.4_Missense_Mutation_p.V918I|RPRD2_ENST00000539519.1_Missense_Mutation_p.V892I|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	918	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						TGCCTTCAGCGTAAGAGGGAA	0.507													6	828					0	0	1	0	0	A	150444176	G	A	150444176	3	1	41	1	0	0	0	0	1	0	0	0	13669	1145	40	1	2794	1	RPRD2	1	150444176	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	36791189	150444176	98806445	5	25499											
TARBP1	6894	broad.mit.edu	37	chr1	234606951	234606951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccattttcctctgacaccGcatattcaaacagattgttt	4	11	2	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:234606951G>A	ENST00000040877.1	-	3	1081	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	361					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)			CTCTGACACCGCATATTCAAA	0.279													4	195					0	0	1	0	0	A	234606951	G	A	234606951	3	1	41	1	0	0	0	0	1	0	0	0	15612	1087	38	1	3895	1	TARBP1	1	234606951	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	84162775	234606951	14643670	6	25500											
HIBCH	26275	broad.mit.edu	37	chr2	191161629	191161629	+	Frame_Shift_Del	DEL	T	T	-													gttatgactcccgtgcaaccTtttttttccaatagcacctc							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr2:191161629delT	ENST00000392332.3	-	3	268	c.129delA	c.(127-129)aafs	p.K43fs	HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs			Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	43					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCGTGCAACCTTTTTTTTCCA	0.353													8	204	---	---	---	---						-	191161629	T	-	191161629	7	5	41	1	0	1	0	1	0	0	0	0	7141	1606	56	0	1079	0	HIBCH	2	191161629	Frame_Shift_Del	DEL	T	TCGA-US-A77J-01A-11D-A32N-08		191161629	52037744	7	25501											
CCDC13	152206	broad.mit.edu	37	chr3	42784422	42784422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttttccctttccaggctgCggatcctcagcaggtttttc	9	12	1	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr3:42784422C>T	ENST00000310232.6	-	8	1036	c.953G>A	c.(952-954)cGc>cAc	p.R318H	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	318										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TTCCAGGCTGCGGATCCTCAG	0.577													5	714					0	0	1	0	0	T	42784422	C	T	42784422	3	4	41	1	0	0	0	0	1	0	0	0	2783	768	27	1	1230	1	CCDC13	3	42784422	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08		42784422	155238008	8	25502											
TREX1	11277	broad.mit.edu	37	chr3	48508192	48508192	+	Frame_Shift_Del	DEL	C	C	-													cacagatgtgccctggagagCccccccacctctcaggggcc							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr3:48508192delC	ENST00000296443.9	+	3	1025	c.138delC	c.(136-138)agfs	p.S46fs	TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000422277.2_Frame_Shift_Del_p.S101fs|TREX1_ENST00000436480.2_Frame_Shift_Del_p.S46fs|TREX1_ENST00000456089.1_Intron|TREX1_ENST00000444177.1_Frame_Shift_Del_p.S36fs|TREX1_ENST00000433541.1_5'UTR			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	101					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)		CCCTGGAGAGCCCCCCCACCT	0.647													8	780	---	---	---	---						-	48508192	C	-	48508192	7	5	41	1	0	1	0	1	0	0	0	0	16537	738	26	0	305	0	TREX1	3	48508192	Frame_Shift_Del	DEL	C	TCGA-US-A77J-01A-11D-A32N-08	5723770	48508192	149514238	9	25503											
PLXNA1	5361	broad.mit.edu	37	chr3	126708251	126708251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagctgacctcgcctgatgCcgccggcgagcacttcttca	10	16	2	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr3:126708251C>T	ENST00000251772.4	+	1	815	c.746C>T	c.(745-747)gCc>gTc	p.A249V	PLXNA1_ENST00000393409.2_Missense_Mutation_p.A272V			Q9UIW2	PLXA1_HUMAN	plexin A1	272	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)		TCGCCTGATGCCGCCGGCGAG	0.572													6	513					0	0	1	0	0	T	126708251	C	T	126708251	3	4	41	1	0	0	0	0	1	0	0	0	12167	739	26	2	817	2	PLXNA1	3	126708251	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	78200059	126708251	71314179	10	25504											
GPR125	166647	broad.mit.edu	37	chr4	22390725	22390725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcactagggtgcgtttggCcgactgccgtaattcttaat	10	10	2	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr4:22390725C>T	ENST00000334304.5	-	18	2978	c.2709G>A	c.(2707-2709)cgG>cgA	p.R903R	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	903					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.R903R(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)				GTGCGTTTGGCCGACTGCCGT	0.418													6	813					0	0	1	0	0	T	22390725	C	T	22390725	2	4	41	1	0	0	0	0	0	0	0	1	6679	726	26	2		2	GPR125	4	22390725	Silent	SNP	C	TCGA-US-A77J-01A-11D-A32N-08		22390725	168763551	11	25505											
METAP1	23173	broad.mit.edu	37	chr4	99982344	99982344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccagatggttggactgCggtgacaagagacggaaagc	16	8	0	3			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr4:99982344C>T	ENST00000296411.6	+	11	1171	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	METAP1_ENST00000544031.1_Missense_Mutation_p.A296V	NM_015143.2	NP_055958.2	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	346					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)		GGTTGGACTGCGGTGACAAGA	0.488													5	540					0	0	1	0	0	T	99982344	C	T	99982344	3	4	41	1	0	0	0	0	1	0	0	0	9536	768	27	1	1079	1	METAP1	4	99982344	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	77591619	99982344	91171932	12	25506											
MMAA	166785	broad.mit.edu	37	chr4	146563588	146563588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgcttactgagagaggGcacaaattatctgtgctagc	10	7	1	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr4:146563588G>A	ENST00000281317.5	+	3	1723	c.513G>A	c.(511-513)ggG>ggA	p.G171G	RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	171						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTGAGAGAGGGCACAAATTAT	0.428													6	778					0	0	1	0	0	A	146563588	G	A	146563588	2	1	41	1	0	0	0	0	0	0	0	1	9687	1190	42	2		2	MMAA	4	146563588	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	46581244	146563588	44590688	13	25507											
IRX4	50805	broad.mit.edu	37	chr5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-													ccgcgcctcctcctcgccccCctcctcctcctcgccctccg							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)ggg>g	p.EG228del	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				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)		tcctcgcccccctcctcctcctc	0.685													7	200	---	---	---	---						-	1879671	CCT	-	1879669	7	5	41	1	0	1	0	1	0	0	0	0	7890	623	22	0	882	0	IRX4	5	1879669	In_Frame_Del	DEL	CCT	TCGA-US-A77J-01A-11D-A32N-08		1879669	179035591	14	25508											
MYO10	4651	broad.mit.edu	37	chr5	16794820	16794820	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagcactcgttggcgatggcGaagatgtgcgggggcagctc	17	9	0	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:16794820G>A	ENST00000513610.1	-	4	856	c.402C>T	c.(400-402)ttC>ttT	p.F134F		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	134	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						TGGCGATGGCGAAGATGTGCG	0.652													4	119					0	0	1	0	0	A	16794820	G	A	16794820	2	1	41	1	0	0	0	0	0	0	0	1	10110	1049	37	1		1	MYO10	5	16794820	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	14915151	16794820	164120440	15	25509											
FST	10468	broad.mit.edu	37	chr5	52779374	52779374	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggacctgggaaaaaatgCcgaatgaacaagaagaacaa	11	6	0	3			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:52779374C>T	ENST00000396947.3	+	3	484	c.318C>T	c.(316-318)tgC>tgT	p.C106C	FST_ENST00000256759.3_Silent_p.C106C	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	106	Follistatin-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)				GGAAAAAATGCCGAATGAACA	0.537													4	176					0	0	1	0	0	T	52779374	C	T	52779374	2	4	41	1	0	0	0	0	0	0	0	1	6111	747	26	2		2	FST	5	52779374	Silent	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	35984554	52779374	128135886	16	25510											
AGGF1	55109	broad.mit.edu	37	chr5	76358920	76358920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgcaggcttggggacagGcaaaccatcctcatttgaag	11	10	1	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:76358920G>A	ENST00000312916.7	+	14	2370	c.1988G>A	c.(1987-1989)gGc>gAc	p.G663D		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	663	G-patch.				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)		TTGGGGACAGGCAAACCATCC	0.428													8	1038					0	0	1	0	0	A	76358920	G	A	76358920	3	1	41	1	0	0	0	0	1	0	0	0	379	1203	42	2	2042	2	AGGF1	5	76358920	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	23579546	76358920	104556340	17	25511											
CDO1	1036	broad.mit.edu	37	chr5	115152024	115152024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacattgacctcatcgccgGcaaagagctggtgcaggatg	12	11	1	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:115152024G>A	ENST00000250535.4	-	1	627	c.71C>T	c.(70-72)gCc>gTc	p.A24V	CDO1_ENST00000502631.1_Intron	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	24					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	CTCATCGCCGGCAAAGAGCTG	0.612													6	793					0	0	1	0	0	A	115152024	G	A	115152024	3	1	41	1	0	0	0	0	1	0	0	0	3191	1203	42	2	551	2	CDO1	5	115152024	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	38793104	115152024	65763236	18	25512											
RNF182	221687	broad.mit.edu	37	chr6	13977594	13977594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgaagttagtagcctgCccgatgacaacaacatcctt	8	10	0	3			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:13977594C>T	ENST00000488300.1	+	3	767	c.244C>T	c.(244-246)Ccc>Tcc	p.P82S	RNF182_ENST00000544682.1_Missense_Mutation_p.P82S|RNF182_ENST00000537663.1_Missense_Mutation_p.P82S|RNF182_ENST00000537388.1_Missense_Mutation_p.P82S	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	82						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)			TAGTAGCCTGCCCGATGACAA	0.512													6	416					0	0	1	0	0	T	13977594	C	T	13977594	3	4	41	1	0	0	0	0	1	0	0	0	13518	739	26	2	246	2	RNF182	6	13977594	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08		13977594	157137473	19	25513											
CCHCR1	54535	broad.mit.edu	37	chr6	31110764	31110766	+	In_Frame_Del	DEL	CTG	CTG	-													tatggactccctggtgggcaCtgctgctgctacaggtgcag					rs140560656		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:31110764_31110766delCTG	ENST00000396268.3	-	17	2653_2655	c.2465_2467delCAG	c.(2464-2469)gtg>g	p.AV822del	CCHCR1_ENST00000376266.5_In_Frame_Del_p.AV733del|CCHCR1_ENST00000396263.2_In_Frame_Del_p.AV680del|CCHCR1_ENST00000451521.2_In_Frame_Del_p.AV786del	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	733					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CTGGTGGGCACTGCTGCTGCTAC	0.532													7	1652	---	---	---	---						-	31110766	CTG	-	31110764	7	5	41	1	0	1	0	1	0	0	0	0	2897	565	20	0	156	0	CCHCR1	6	31110764	In_Frame_Del	DEL	CTG	TCGA-US-A77J-01A-11D-A32N-08	17133170	31110764	140004303	20	25514											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A													attcagcgacagtggcgggcINSaaacccctcccggggcgggg							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-57)gaafs	p.E19fs	DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000375349.3_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													7	748	---	---	---	---						A	31939830	-	A	31939829	7	5	41	1	0	1	1	0	0	0	0	0	15348	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-US-A77J-01A-11D-A32N-08	829065	31939829	139175238	21	25515											
COL9A1	1297	broad.mit.edu	37	chr6	71012702	71012702	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagtcactgtcccctcaCgaccccttcactgttaccct	7	17	3	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:71012702C>T	ENST00000357250.6	-	0	84				COL9A1_ENST00000370496.3_De_novo_Start_InFrame	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1						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						TGTCCCCTCACGACCCCTTCA	0.522													7	190					0	0	1	0	0	T	71012702	C	T	71012702	1	4	41	1	0	0	0	0	0	0	0	0	3730	551	19	1		1	COL9A1	6	71012702	Translation_Start_Site	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	39072873	71012702	100102365	22	25516											
MAP3K7	6885	broad.mit.edu	37	chr6	91296568	91296570	+	In_Frame_Del	DEL	GAG	GAG	-													tcatctcaccggccgaagacGaggaggaggaggaggcggca							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:91296568_91296570delGAG	ENST00000369329.3	-	1	194_196	c.33_35delCTC	c.(31-36)tcg>tc	p.SS13del	MAP3K7_ENST00000369325.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369327.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369332.3_In_Frame_Del_p.SS13del	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	13	Poly-Ser.				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)		GGCCGAAGACGAGGAGGAGGAGG	0.655													8	191	---	---	---	---						-	91296570	GAG	-	91296568	7	5	41	1	0	1	0	1	0	0	0	0	9305	1059	37	0	1853	0	MAP3K7	6	91296568	In_Frame_Del	DEL	GAG	TCGA-US-A77J-01A-11D-A32N-08	20283866	91296568	79818499	23	25517											
KIAA0408	9729	broad.mit.edu	37	chr6	127767596	127767596	+	Frame_Shift_Del	DEL	C	C	-													ttccttgcttcacttcctgtCccccccacacagctgtcttt							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:127767596delC	ENST00000483725.3	-	5	2204	c.1868delG	c.(1867-1869)gafs	p.G623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							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)		CACTTCCTGTCCCCCCCACAC	0.398													7	1148	---	---	---	---						-	127767596	C	-	127767596	7	5	41	1	0	1	0	1	0	0	0	0	8216	855	30	0	224	0	KIAA0408	6	127767596	Frame_Shift_Del	DEL	C	TCGA-US-A77J-01A-11D-A32N-08	36471028	127767596	43347471	24	25518											
SNX13	23161	broad.mit.edu	37	chr7	17861218	17861218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcactgtttaggttgcgccGgtgtacagtgatggcatata	12	8	1	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:17861218G>A	ENST00000409389.1	-	18	1964	c.1792C>T	c.(1792-1794)Cgg>Tgg	p.R598W	SNX13_ENST00000428135.3_Missense_Mutation_p.R587W|SNX13_ENST00000496855.1_5'UTR			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	598	PX.				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)					AGGTTGCGCCGGTGTACAGTG	0.403													5	326					0	0	1	0	0	A	17861218	G	A	17861218	3	1	41	1	0	0	0	0	1	0	0	0	14938	1115	39	1	1150	1	SNX13	7	17861218	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08		17861218	141277445	25	25519											
SAMD9L	219285	broad.mit.edu	37	chr7	92761061	92761061	+	Frame_Shift_Del	DEL	T	T	-													tgcaagacctctcggagttgTttttttagcgtggtaagtgg							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:92761061delT	ENST00000318238.4	-	5	5440	c.4224delA	c.(4222-4224)aafs	p.K1408fs	SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.K1408fs|SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.K1408fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1408										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)			CTCGGAGTTGTTTTTTTAGCG	0.408													7	922	---	---	---	---						-	92761061	T	-	92761061	7	5	41	1	0	1	0	1	0	0	0	0	13879	1722	60	0	534	0	SAMD9L	7	92761061	Frame_Shift_Del	DEL	T	TCGA-US-A77J-01A-11D-A32N-08	74899843	92761061	66377602	26	25520											
DENND2A	27147	broad.mit.edu	37	chr7	140301371	140301371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctttgtccccttctccgGcatgtttgaacgttctccgg	8	14	3	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:140301371G>A	ENST00000275884.6	-	2	1244	c.827C>T	c.(826-828)gCc>gTc	p.A276V	DENND2A_ENST00000492720.1_Missense_Mutation_p.A276V|DENND2A_ENST00000537639.1_Missense_Mutation_p.A276V|DENND2A_ENST00000496613.1_Missense_Mutation_p.A276V			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	276										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)					CCCTTCTCCGGCATGTTTGAA	0.582													6	833					0	0	1	0	0	A	140301371	G	A	140301371	3	1	41	1	0	0	0	0	1	0	0	0	4457	1203	42	2	2274	2	DENND2A	7	140301371	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	47540310	140301371	18837292	27	25521											
WDR60	55112	broad.mit.edu	37	chr7	158672580	158672580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaagacataaagaaaagcGacacaaagaaggttttcatt	8	5	1	4			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:158672580G>A	ENST00000407559.3	+	5	937	c.779G>A	c.(778-780)cGa>cAa	p.R260Q		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	260										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)		AAAGAAAAGCGACACAAAGAA	0.398													5	169					0	0	1	0	0	A	158672580	G	A	158672580	3	1	41	1	0	0	0	0	1	0	0	0	17371	1058	37	1	797	1	WDR60	7	158672580	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	18371209	158672580	466083	28	25522											
CYP11B2	1585	broad.mit.edu	37	chr8	143993951	143993953	+	In_Frame_Del	DEL	GCA	GCA	-													cccaggcctgcttacgtggtGcagcagcagcagcatctctg							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr8:143993951_143993953delGCA	ENST00000323110.2	-	8	1393_1395	c.1391_1393delTGC	c.(1390-1395)cac>c	p.LH464del		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	464					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)	CTTACGTGGTGCAGCAGCAGCAG	0.685									Familial Hyperaldosteronism type I				8	335	---	---	---	---						-	143993953	GCA	-	143993951	7	5	41	1	0	1	0	1	0	0	0	0	4169	1319	46	0	126	0	CYP11B2	8	143993951	In_Frame_Del	DEL	GCA	TCGA-US-A77J-01A-11D-A32N-08		143993951	2370071	29	25523											
SMARCA2	6595	broad.mit.edu	37	chr9	2077712	2077712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactacaccgtggctcatgCcatctcggagagggtggaga	13	11	2	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:2077712C>T	ENST00000382203.1	+	14	2329	c.2120C>T	c.(2119-2121)gCc>gTc	p.A707V	SMARCA2_ENST00000357248.2_Missense_Mutation_p.A707V|SMARCA2_ENST00000382194.1_Missense_Mutation_p.A707V|SMARCA2_ENST00000349721.2_Missense_Mutation_p.A707V			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	707					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)		GTGGCTCATGCCATCTCGGAG	0.498													4	151					0	0	1	0	0	T	2077712	C	T	2077712	3	4	41	1	0	0	0	0	1	0	0	0	14823	739	26	2	2170	2	SMARCA2	9	2077712	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08		2077712	139135719	30	25524											
UNC13B	10497	broad.mit.edu	37	chr9	35376164	35376164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctctggggcattgcccGgcagggcatgcgctgcagcg	16	14	1	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:35376164G>A	ENST00000378495.3	+	14	1730	c.1508G>A	c.(1507-1509)cGg>cAg	p.R503Q	UNC13B_ENST00000396787.1_Missense_Mutation_p.R515Q|UNC13B_ENST00000378496.4_Missense_Mutation_p.R503Q	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	503					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	p.R503Q(1)		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)			GGCATTGCCCGGCAGGGCATG	0.582													5	390					0	0	1	0	0	A	35376164	G	A	35376164	3	1	41	1	0	0	0	0	1	0	0	0	17045	1116	39	1	1562	1	UNC13B	9	35376164	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	33298452	35376164	105837267	31	25525											
PNPLA7	375775	broad.mit.edu	37	chr9	140361883	140361883	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatgtccacagggatgccGcactccgccaaggccttgag	11	15	0	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:140361883G>A	ENST00000406427.1	-	26	3261	c.2925C>T	c.(2923-2925)tgC>tgT	p.C975C	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Silent_p.C556C|PNPLA7_ENST00000277531.4_Silent_p.C950C	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	950	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)		CAGGGATGCCGCACTCCGCCA	0.657													5	285					0	0	1	0	0	A	140361883	G	A	140361883	2	1	41	1	0	0	0	0	0	0	0	1	12218	1079	38	1		1	PNPLA7	9	140361883	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	104985719	140361883	851548	32	25526											
ARHGAP21	57584	broad.mit.edu	37	chr10	24908580	24908580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgatgccttaaaggctgCggtgtctggcgtccagatgg	15	9	1	2	rs61758698	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr10:24908580C>T	ENST00000396432.2	-	9	2730	c.2244G>A	c.(2242-2244)ccG>ccA	p.P748P	ARHGAP21_ENST00000320481.6_Silent_p.P535P	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	747					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						TTAAAGGCTGCGGTGTCTGGC	0.473													5	465					0	0	1	0	0	T	24908580	C	T	24908580	2	4	41	1	0	0	0	0	0	0	0	1	868	755	27	1		1	ARHGAP21	10	24908580	Silent	SNP	C	TCGA-US-A77J-01A-11D-A32N-08		24908580	110626167	33	25527											
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-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	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													7	994					0	0	1	0	0	A	129906577	G	A	129906577	3	1	41	1	0	0	0	0	1	0	0	0	9646	1145	40	1	6255	1	MKI67	10	129906577	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	104997997	129906577	5628170	34	25528											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629156	1629156	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggactgggagcagcTgggcttgcagcagctggact	17	10	0	0	rs75371407		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:1629156T>A	ENST00000399685.1	-	1	537	c.460A>T	c.(460-462)Agc>Tgc	p.S154C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	154	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)		TGGGAGCAGCTGGGCTTGCAG	0.627													9	1158					0	0	1	0	0	A	1629156	T	A	1629156	3	1	41	1	0	0	0	0	1	0	0	0	8602	1580	55	5	260	5	KRTAP5-3	11	1629156	Missense_Mutation	SNP	T	TCGA-US-A77J-01A-11D-A32N-08		1629156	133377360	35	25529											
FEN1	2237	broad.mit.edu	37	chr11	61563230	61563230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactaagcggctggtgaagGtcactaagcagcacaatgat	11	9	2	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:61563230G>A	ENST00000305885.2	+	2	810	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1	P39748	FEN1_HUMAN	flap structure-specific endonuclease 1	133	I-domain.				base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GCTGGTGAAGGTCACTAAGCA	0.587								Editing and processing nucleases					5	355					0	0	1	0	0	A	61563230	G	A	61563230	3	1	41	1	0	0	0	0	1	0	0	0	5845	1261	44	2	399	2	FEN1	11	61563230	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	59934074	61563230	73443286	36	25530											
FTH1	2495	broad.mit.edu	37	chr11	61732517	61732517	+	Frame_Shift_Del	DEL	T	T	-													ccagtagtgactgattcacaTttttttccaaatgtaatgca							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:61732517delT	ENST00000273550.7	-	3	563	c.329delA	c.(328-330)atfs	p.N110fs	BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000526640.1_Frame_Shift_Del_p.N80fs|FTH1_ENST00000532601.1_Frame_Shift_Del_p.N40fs|FTH1_ENST00000529191.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	110	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	CTGATTCACATTTTTTTCCAA	0.423													7	928	---	---	---	---						-	61732517	T	-	61732517	7	5	41	1	0	1	0	1	0	0	0	0	6117	1493	52	0	230	0	FTH1	11	61732517	Frame_Shift_Del	DEL	T	TCGA-US-A77J-01A-11D-A32N-08	169287	61732517	73273999	37	25531											
RAD9A	5883	broad.mit.edu	37	chr11	67163738	67163738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctcccctgcccaggcccGccatcttcaccatcaaggac	6	22	3	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:67163738G>A	ENST00000307980.2	+	9	832	c.739G>A	c.(739-741)Gcc>Acc	p.A247T	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)	247					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)			GCCCAGGCCCGCCATCTTCAC	0.632								Other conserved DNA damage response genes					8	898					0	0	1	0	0	A	67163738	G	A	67163738	3	1	41	1	0	0	0	0	1	0	0	0	13047	1087	38	1	773	1	RAD9A	11	67163738	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	5431221	67163738	67842778	38	25532											
RPL6	6128	broad.mit.edu	37	chr12	112843029	112843029	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattaggttcttaagacattTagaacaccaatttgtgagga	8	5	1	3			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:112843029T>C	ENST00000424576.2	-	7	1051	c.866A>G	c.(865-867)tAa>tGa	p.*289*	RPL6_ENST00000202773.9_Silent_p.*289*	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	0					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						TTAAGACATTTAGAACACCAA	0.333													4	162					0	0	1	0	0	C	112843029	T	C	112843029	2	2	41	1	0	0	0	0	0	0	0	1	13650	1761	61	3		3	RPL6	12	112843029	Silent	SNP	T	TCGA-US-A77J-01A-11D-A32N-08		112843029	21008866	39	25533											
EP400	57634	broad.mit.edu	37	chr12	132466657	132466657	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaatgccccccacgccGcaggccgcgcagctcgctgg	15	17	0	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:132466657G>A	ENST00000333577.4	+	6	1780	c.1671G>A	c.(1669-1671)ccG>ccA	p.P557P	EP400_ENST00000332482.4_Silent_p.P484P|EP400_ENST00000389561.2_Silent_p.P521P|EP400_ENST00000389562.2_Silent_p.P520P|EP400_ENST00000330386.6_Silent_p.P521P			Q96L91	EP400_HUMAN	E1A binding protein p400	557					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)		CCCCCACGCCGCAGGCCGCGC	0.592													6	1013					0	0	1	0	0	A	132466657	G	A	132466657	2	1	41	1	0	0	0	0	0	0	0	1	5177	1074	38	1		1	EP400	12	132466657	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	19623628	132466657	1385238	40	25534											
ABHD12B	145447	broad.mit.edu	37	chr14	51370808	51370808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctctatgaaattgcacGcaatgcatacaggaacaaag	9	9	1	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:51370808G>A	ENST00000337334.2	+	12	974	c.959G>A	c.(958-960)cGc>cAc	p.R320H	ABHD12B_ENST00000395752.1_Missense_Mutation_p.R213H|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Missense_Mutation_p.R243H	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	320							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GAAATTGCACGCAATGCATAC	0.428													5	551					0	0	1	0	0	A	51370808	G	A	51370808	3	1	41	1	0	0	0	0	1	0	0	0	77	1087	38	1	784	1	ABHD12B	14	51370808	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08		51370808	55978732	41	25535											
ADCK1	57143	broad.mit.edu	37	chr14	78285426	78285426	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggaccctaatgactttggCgctgtcagggtgggcagagc	15	9	1	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:78285426C>T	ENST00000238561.5	+	2	204	c.105C>T	c.(103-105)ggC>ggT	p.G35G	ADCK1_ENST00000341211.5_Silent_p.G35G	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	35						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)		ATGACTTTGGCGCTGTCAGGG	0.512													5	343					0	0	1	0	0	T	78285426	C	T	78285426	2	4	41	1	0	0	0	0	0	0	0	1	287	755	27	1		1	ADCK1	14	78285426	Silent	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	26914618	78285426	29064114	42	25536											
NARFL	64428	broad.mit.edu	37	chr16	780576	780576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcagcccggaccatgccGtacagtctctccacgtgctg	10	17	2	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:780576G>A	ENST00000540986.1	-	10	2401	c.966C>T	c.(964-966)taC>taT	p.Y322Y	NARFL_ENST00000562862.1_5'UTR|NARFL_ENST00000568545.1_Silent_p.Y322Y|NARFL_ENST00000251588.2_Silent_p.Y424Y			Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	424					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)				GGACCATGCCGTACAGTCTCT	0.682													6	401					0	0	1	0	0	A	780576	G	A	780576	2	1	41	1	0	0	0	0	0	0	0	1	10216	1140	40	1		1	NARFL	16	780576	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08		780576	89574177	43	25537											
ZNF646	9726	broad.mit.edu	37	chr16	31091658	31091658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaagacctactccaaccGcatggccctgaaggaccacc	7	19	0	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:31091658G>A	ENST00000394979.2	+	1	4436	c.4013G>A	c.(4012-4014)cGc>cAc	p.R1338H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1338H			O15015	ZN646_HUMAN	zinc finger protein 646	1338					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						TACTCCAACCGCATGGCCCTG	0.697													4	240					0	0	1	0	0	A	31091658	G	A	31091658	3	1	41	1	0	0	0	0	1	0	0	0	18119	1087	38	1	4015	1	ZNF646	16	31091658	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	30311082	31091658	59263095	44	25538											
SLC12A3	0	broad.mit.edu	37	chr16	56918048	56918048	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatgttcctcctcacctGgtgggcggccctcatcgcca	9	17	3	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:56918048G>A	ENST00000438926.2	+	14	1786	c.1757G>A	c.(1756-1758)tGg>tAg	p.W586*	SLC12A3_ENST00000262502.5_Nonsense_Mutation_p.W585*|SLC12A3_ENST00000563236.1_Nonsense_Mutation_p.W586*|SLC12A3_ENST00000566786.1_Nonsense_Mutation_p.W585*	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	586					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)	CTCCTCACCTGGTGGGCGGCC	0.602													5	256					0	0	1	0	0	A	56918048	G	A	56918048	4	1	41	1	0	0	0	0	0	1	0	0	14439	1357	47	2	1811	2	SLC12A3	16	56918048	Nonsense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	25826390	56918048	33436705	45	25539											
EDC4	23644	broad.mit.edu	37	chr16	67913803	67913803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagcagcagcagcagcagCagtagcagcagctcccttac	12	13	0	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:67913803C>T	ENST00000358933.5	+	16	2111	c.1872C>T	c.(1870-1872)agC>agT	p.S624S		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	624	Ser-rich.				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)		gcagcagcagcagtagcagca	0.602													6	247					0	0	1	0	0	T	67913803	C	T	67913803	2	4	41	1	0	0	0	0	0	0	0	1	4934	709	25	2		2	EDC4	16	67913803	Silent	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	10995755	67913803	22440950	46	25540											
ESRP2	80004	broad.mit.edu	37	chr16	68266371	68266371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagggcctcgccatttctgCggccctgggcgttgaggcag	16	12	1	2	rs146812395		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:68266371C>T	ENST00000473183.2	-	8	1395	c.857G>A	c.(856-858)cGc>cAc	p.R286H	ESRP2_ENST00000565858.1_Missense_Mutation_p.R296H			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	296	RRM 1.				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						GCCATTTCTGCGGCCCTGGGC	0.632													5	289					0	0	1	0	0	T	68266371	C	T	68266371	3	4	41	1	0	0	0	0	1	0	0	0	5287	768	27	1	1328	1	ESRP2	16	68266371	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	352568	68266371	22088382	47	25541											
WDR59	79726	broad.mit.edu	37	chr16	74943482	74943482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtaagccgtggtcacccgcGcaaacgtcggtaagggggga	16	11	1	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:74943482G>A	ENST00000262144.6	-	16	1689	c.1559C>T	c.(1558-1560)gCg>gTg	p.A520V		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	520										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GGTCACCCGCGCAAACGTCGG	0.552													5	562					0	0	1	0	0	A	74943482	G	A	74943482	3	1	41	1	0	0	0	0	1	0	0	0	17368	1087	38	1	1409	1	WDR59	16	74943482	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	6677111	74943482	15411271	48	25542											
KARS	3735	broad.mit.edu	37	chr16	75665392	75665392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctaccatgttgattcgccGgaagggtggggtgaagtcaa	14	7	2	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:75665392G>A	ENST00000319410.5	-	10	1379	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.R392W	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	392					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)	TTGATTCGCCGGAAGGGTGGG	0.522													6	405					0	0	1	0	0	A	75665392	G	A	75665392	3	1	41	1	0	0	0	0	1	0	0	0	8024	1115	39	1	643	1	KARS	16	75665392	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	721910	75665392	14689361	49	25543											
MYH10	4628	broad.mit.edu	37	chr17	8397095	8397097	+	In_Frame_Del	DEL	CCT	CCT	-													cttctccaggttcttcctggCctcctcctcctcctcctgct							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:8397095_8397097delCCT	ENST00000360416.3	-	32	4301_4303	c.4163_4165delAGG	c.(4162-4167)gcc>g	p.EA1388del	MYH10_ENST00000269243.4_In_Frame_Del_p.EA1357del|MYH10_ENST00000396239.1_In_Frame_Del_p.EA1378del|MYH10_ENST00000379980.4_In_Frame_Del_p.EA1373del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1357					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						TTCTTCCTGGCCTCCTCCTCCTC	0.596													7	287	---	---	---	---						-	8397097	CCT	-	8397095	7	5	41	1	0	1	0	1	0	0	0	0	10078	739	26	0	1906	0	MYH10	17	8397095	In_Frame_Del	DEL	CCT	TCGA-US-A77J-01A-11D-A32N-08		8397095	72798115	50	25544											
PROCA1	147011	broad.mit.edu	37	chr17	27031791	27031791	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggcggacacagtcagaggcGaaagggtagatgatgtgccc	16	8	1	3			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:27031791G>A	ENST00000301039.2	-	2	355	c.162C>T	c.(160-162)ttC>ttT	p.F54F	PROCA1_ENST00000439862.3_Silent_p.F56F|PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000581289.1_Intron	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	82					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					AGTCAGAGGCGAAAGGGTAGA	0.587													5	337					0	0	1	0	0	A	27031791	G	A	27031791	2	1	41	1	0	0	0	0	0	0	0	1	12598	1049	37	1		1	PROCA1	17	27031791	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	18634696	27031791	54163419	51	25545											
EVI2A	2123	broad.mit.edu	37	chr17	29646028	29646028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgttccatgtccgtggGcatgcttggcaatctgttgg	14	8	1	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:29646028G>A	ENST00000247270.3	-	3	409	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron|EVI2A_ENST00000461237.1_Missense_Mutation_p.P2S|EVI2A_ENST00000462804.2_Missense_Mutation_p.P2S|NF1_ENST00000581113.2_Intron	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	2						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)		ATGTCCGTGGGCATGCTTGGC	0.378													6	772					0	0	1	0	0	A	29646028	G	A	29646028	3	1	41	1	0	0	0	0	1	0	0	0	5315	1203	42	2	710	2	EVI2A	17	29646028	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	2614237	29646028	51549182	52	25546											
KRT20	54474	broad.mit.edu	37	chr17	39041356	39041356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggtgtcgtcccgaggcGctgcatgcccactgtactga	14	13	0	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:39041356G>A	ENST00000167588.3	-	1	123	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	28	Head.				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)				GTCCCGAGGCGCTGCATGCCC	0.597													5	222					0	0	1	0	0	A	39041356	G	A	39041356	3	1	41	1	0	0	0	0	1	0	0	0	8501	1087	38	1	1224	1	KRT20	17	39041356	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	9395328	39041356	42153854	53	25547											
RGS9	8787	broad.mit.edu	37	chr17	63206625	63206625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccaccctcccttttatgCggcgtcacctgcgctccagc	8	19	1	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:63206625C>T	ENST00000449996.3	+	17	1372	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	RGS9_ENST00000443584.3_Missense_Mutation_p.R434W|RGS9_ENST00000262406.9_Missense_Mutation_p.R437W	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	437					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						CCCTTTTATGCGGCGTCACCT	0.572													8	501					0	0	1	0	0	T	63206625	C	T	63206625	3	4	41	1	0	0	0	0	1	0	0	0	13363	759	27	1	1375	1	RGS9	17	63206625	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	24165269	63206625	17988585	54	25548											
HELZ	9931	broad.mit.edu	37	chr17	65134199	65134199	+	Frame_Shift_Del	DEL	A	A	-													ctactggccacttccttcttAactcttctacacgttccacc							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:65134199delA	ENST00000358691.5	-	22	2967	c.2801delT	c.(2800-2802)tafs	p.L934fs	HELZ_ENST00000580168.1_Frame_Shift_Del_p.L935fs	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)					CTTCCTTCTTAACTCTTCTAC	0.388													7	437	---	---	---	---						-	65134199	A	-	65134199	7	5	41	1	0	1	0	1	0	0	0	0	7090	372	13	0	3075	0	HELZ	17	65134199	Frame_Shift_Del	DEL	A	TCGA-US-A77J-01A-11D-A32N-08	1927574	65134199	16061011	55	25549											
SAFB	6294	broad.mit.edu	37	chr19	5664054	5664054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagatgatgcctattggccGgaagccaagcgggccgccct	14	13	0	2	rs145778900		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:5664054G>A	ENST00000292123.5	+	16	2282	c.2175G>A	c.(2173-2175)ccG>ccA	p.P725P	SAFB_ENST00000454510.1_Silent_p.P656P|SAFB_ENST00000433404.1_Silent_p.P555P|SAFB_ENST00000538656.1_Silent_p.P567P|SAFB_ENST00000588852.1_Silent_p.P725P|SAFB_ENST00000592224.1_Silent_p.P724P	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	725	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				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)		CCTATTGGCCGGAAGCCAAGC	0.602													4	330					0	0	1	0	0	A	5664054	G	A	5664054	2	1	41	1	0	0	0	0	0	0	0	1	13858	1103	39	1		1	SAFB	19	5664054	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08		5664054	53464929	56	25550											
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-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	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													6	261					0	0	1	0	0	T	13338336	C	T	13338336	3	4	41	1	0	0	0	0	1	0	0	0	2556	768	27	1	2030	1	CACNA1A	19	13338336	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	7674282	13338336	45790647	57	25551											
RYR1	6261	broad.mit.edu	37	chr19	39009888	39009888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtgagccgtgcacggccGgagctcctgcagtcccactt	12	14	0	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:39009888G>A	ENST00000355481.4	+	67	10184	c.10053G>A	c.(10051-10053)ccG>ccA	p.P3351P	RYR1_ENST00000360985.3_Silent_p.P3351P|RYR1_ENST00000359596.3_Silent_p.P3351P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3351					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)	GTGCACGGCCGGAGCTCCTGC	0.662													5	439					0	0	1	0	0	A	39009888	G	A	39009888	2	1	41	1	0	0	0	0	0	0	0	1	13820	1103	39	1		1	RYR1	19	39009888	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	25671552	39009888	20119095	58	25552											
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-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:43763169G>A	ENST00000418820.2	-	3	647	c.549C>T	c.(547-549)aaC>aaT	p.N183N	PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Silent_p.N276N|PSG9_ENST00000443718.3_Silent_p.N183N|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_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													7	1182					0	0	1	0	0	A	43763169	G	A	43763169	2	1	41	1	0	0	0	0	0	0	0	1	12711	1136	40	1		1	PSG9	19	43763169	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	4753281	43763169	15365814	59	25553											
CLPTM1	1209	broad.mit.edu	37	chr19	45494548	45494548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgctcctgggctgctatgCcgtctacagtcttctgtacc	9	16	3	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:45494548C>T	ENST00000541297.2	+	12	1895	c.1430C>T	c.(1429-1431)gCc>gTc	p.A477V	CLPTM1_ENST00000546079.1_Missense_Mutation_p.A389V|CLPTM1_ENST00000337392.5_Missense_Mutation_p.A491V			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	491					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)		GGCTGCTATGCCGTCTACAGT	0.637													6	825					0	0	1	0	0	T	45494548	C	T	45494548	3	4	41	1	0	0	0	0	1	0	0	0	3577	739	26	2	1518	2	CLPTM1	19	45494548	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	1731379	45494548	13634435	60	25554											
RTN2	6253	broad.mit.edu	37	chr19	45996481	45996481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcttctcggggattttgCccacttcagtagaacccgga	11	12	2	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:45996481C>T	ENST00000590526.1	-	5	1274	c.148G>A	c.(148-150)Gca>Aca	p.A50T	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000344680.4_Intron|RTN2_ENST00000245923.4_Missense_Mutation_p.A324T|RTN2_ENST00000430715.2_5'UTR			O75298	RTN2_HUMAN	reticulon 2	324						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)		GGGGATTTTGCCCACTTCAGT	0.617													6	763					0	0	1	0	0	T	45996481	C	T	45996481	3	4	41	1	0	0	0	0	1	0	0	0	13778	739	26	2	695	2	RTN2	19	45996481	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	501933	45996481	13132502	61	25555											
VSX1	30813	broad.mit.edu	37	chr20	25056996	25056996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcactttcttggtctcctgCcgggcagagctggagaggtc	14	11	2	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr20:25056996C>T	ENST00000376709.4	-	5	1262	c.999G>A	c.(997-999)cgG>cgA	p.R333R	VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000424574.1_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	333					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						TGGTCTCCTGCCGGGCAGAGC	0.592													5	278					0	0	1	0	0	T	25056996	C	T	25056996	2	4	41	1	0	0	0	0	0	0	0	1	17291	726	26	2		2	VSX1	20	25056996	Silent	SNP	C	TCGA-US-A77J-01A-11D-A32N-08		25056996	37968524	62	25556											
POTEH	23784	broad.mit.edu	37	chr22	16287774	16287774	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccacgttgctcttgccgcTccccctgcaccaggcgaagc	10	19	1	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr22:16287774T>C	ENST00000343518.6	-	1	163	c.112A>G	c.(112-114)Agc>Ggc	p.S38G		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	38										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTCTTGCCGCTCCCCCTGCAC	0.592													8	1308					0	0	1	0	0	C	16287774	T	C	16287774	3	2	41	1	0	0	0	0	1	0	0	0	12314	1551	54	3	1565	3	POTEH	22	16287774	Missense_Mutation	SNP	T	TCGA-US-A77J-01A-11D-A32N-08		16287774	35016792	63	25557											
HIRA	7290	broad.mit.edu	37	chr22	19373136	19373138	+	In_Frame_Del	DEL	GCT	GCT	-													cgcagcactcttctggtccaGctgctgctgctgctgccttc							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr22:19373136_19373138delGCT	ENST00000263208.5	-	12	1491_1493	c.1235_1237delAGC	c.(1234-1239)ctg>c	p.QL412del	HIRA_ENST00000546308.1_In_Frame_Del_p.QL368del|HIRA_ENST00000541063.1_In_Frame_Del_p.QL368del|HIRA_ENST00000340170.4_In_Frame_Del_p.QL412del	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	412	Poly-Gln.				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)					TTCTGGTCCAGCTGCTGCTGCTG	0.581													8	234	---	---	---	---						-	19373138	GCT	-	19373136	7	5	41	1	0	1	0	1	0	0	0	0	7161	962	34	0	1872	0	HIRA	22	19373136	In_Frame_Del	DEL	GCT	TCGA-US-A77J-01A-11D-A32N-08	3085362	19373136	31931430	64	25558											
NEFH	4744	broad.mit.edu	37	chr22	29885739	29885739	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaaggaagaagcaaagTcccctgagaaggccaagtcc	12	10	0	3			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr22:29885739T>A	ENST00000310624.6	+	4	2143	c.2110T>A	c.(2110-2112)Tcc>Acc	p.S704T		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	710	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|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						AGAAGCAAAGTCCCCTGAGAA	0.557													5	472					0	0	1	0	0	A	29885739	T	A	29885739	3	1	41	1	0	0	0	0	1	0	0	0	10361	1667	58	5	2124	5	NEFH	22	29885739	Missense_Mutation	SNP	T	TCGA-US-A77J-01A-11D-A32N-08	10512603	29885739	21418827	65	25559											
PRR5	55615	broad.mit.edu	37	chr22	45133064	45133064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggattttcattgactttggCcggggccggggctctggcat	16	9	2	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr22:45133064C>T	ENST00000403581.1	+	10	1782	c.1173C>T	c.(1171-1173)ggC>ggT	p.G391G	ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000336985.6_Silent_p.G368G|ARHGAP8_ENST00000517296.3_Intron	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)		TTGACTTTGGCCGGGGCCGGG	0.632													5	464					0	0	1	0	0	T	45133064	C	T	45133064	2	4	41	1	0	0	0	0	0	0	0	1	12650	726	26	2		2	PRR5	22	45133064	Silent	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	15247325	45133064	6171502	66	25560											
OFD1	8481	broad.mit.edu	37	chrX	13764946	13764946	+	Frame_Shift_Del	DEL	A	A	-													gcaaaaattaaaatggaagcAaaaaaaaagtatgaaaagga							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:13764946delA	ENST00000380567.1	+	9	1154	c.282delA	c.(280-282)gcfs	p.A94fs	OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	234	LisH.				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						AAATGGAAGCAAAAAAAAAGT	0.299													7	225	---	---	---	---						-	13764946	A	-	13764946	7	5	41	1	0	1	0	1	0	0	0	0	10886	117	5	0	732	0	OFD1	23	13764946	Frame_Shift_Del	DEL	A	TCGA-US-A77J-01A-11D-A32N-08		13764946	141505614	67	25561											
TXLNG	55787	broad.mit.edu	37	chrX	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-													agaagctgatgaaaaacatcAgagagagagagagtttgtaa							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:16850849_16850850delAG	ENST00000380122.5	+	6	1029_1030	c.968_969delAG	c.(967-969)cfs	p.Q323fs	TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	323					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						GAAAAACATCAGAGAGAGAGAG	0.386													10	320	---	---	---	---						-	16850850	AG	-	16850849	7	5	41	1	0	1	0	1	0	0	0	0	16851	188	7	0	990	0	TXLNG	23	16850849	Frame_Shift_Del	DEL	AG	TCGA-US-A77J-01A-11D-A32N-08	3085903	16850849	138419711	68	25562											
PFKFB1	5207	broad.mit.edu	37	chrX	54978521	54978521	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtagcgtgtgcccacgtcGaagatcttgatgtaggacag	13	8	1	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:54978521G>A	ENST00000375006.3	-	8	733	c.663C>T	c.(661-663)ttC>ttT	p.F221F	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.F156F	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	221	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						TGCCCACGTCGAAGATCTTGA	0.567													4	173					0	0	1	0	0	A	54978521	G	A	54978521	2	1	41	1	0	0	0	0	0	0	0	1	11808	1049	37	1		1	PFKFB1	23	54978521	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	38127672	54978521	100292039	69	25563											
FAM104B	90736	broad.mit.edu	37	chrX	55172537	55172537	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgttggagcttgccctcGctgctgcaggctgttgaagt	13	10	1	1	rs1047054	by1000genomes	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:55172537G>A	ENST00000425133.2	-	3	369	c.331C>T	c.(331-333)Cga>Tga	p.R111*	FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000332132.4_Intron|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.R111*(5)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GCTTGCCCTCGCTGCTGCAGG	0.438													4	177					0	0	1	0	0	A	55172537	G	A	55172537	4	1	41	1	0	0	0	0	0	1	0	0	5417	1095	38	1	124	1	FAM104B	23	55172537	Nonsense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	194016	55172537	100098023	70	25564											
MAP7D3	79649	broad.mit.edu	37	chrX	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-													gaatacttccacattcacctGggggggtgcatccacacttg							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:135314194delG	ENST00000316077.9	-	8	1142	c.922delC	c.(922-924)agfs	p.Q308fs	MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308						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)					ACATTCACCTGGGGGGGTGCA	0.532													7	1137	---	---	---	---						-	135314194	G	-	135314194	7	5	41	1	0	1	0	1	0	0	0	0	9319	1357	47	0	1752	0	MAP7D3	23	135314194	Frame_Shift_Del	DEL	G	TCGA-US-A77J-01A-11D-A32N-08	80141657	135314194	19956366	71	25565											
MAGEC1	9947	broad.mit.edu	37	chrX	140994960	140994960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagggggaggactccctGtctcctcactactttcctca	8	16	4	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590							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)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)			11	1847					0	0	1	0	0	A	140994960	G	A	140994960	2	1	41	1	0	0	0	0	0	0	0	1	9230	1364	48	2		2	MAGEC1	23	140994960	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	5680766	140994960	14275600	72	25566											
GPR50	9248	broad.mit.edu	37	chrX	150348992	150348992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccatcttccatgctatgCggcaccctatcatattcttc	6	14	3	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:150348992C>T	ENST00000218316.3	+	2	1006	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	313					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)					CCATGCTATGCGGCACCCTAT	0.542													6	767					0	0	1	0	0	T	150348992	C	T	150348992	3	4	41	1	0	0	0	0	1	0	0	0	6737	759	27	1	943	1	GPR50	23	150348992	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	9354032	150348992	4921568	73	25567											
